Func,Gene,Exonic|Biotype,Transcript,Codon_Change,Impact,COSMIC,1000G_ALL,1000G_EAS,dbSNP141,SIFT,PolyPhen2,MutationAssessor,RadialSVM,LOF|NMD,Chr,Start,End,Ref,Obs,Otherinfo,isoform,ENCODE,HGMD,Clinvar,GWAS,1000G_SAS,1000G_AMR,1000G_EUR,ESP6500_ALL,ESP6500_AA,ESP6500_EA,,LRT,MutationTaster,FATHMM,LR,VEST3,CADD,GERP++_NR,GERP++_RS,phyloP46way_primate,phyloP46way_placental,phyloP100way_vertebrate,phastCons46way_primate,phastCons46way_placental,phastCons100way_vertebrate,SiPhy_29way_logOdds
missense_variant,OR4F5,MISSENSE,NM_001005484.1:p.Thr141Ala/c.421A>G,Aca/Gca,MODERATE,COSM4144171(1),,,rs75062661,0.95(T),0.0(B),-1.295(N),-0.9967(T),,chr1,69511,69511,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr141Ala/c.421A>G|305|OR4F5|protein_coding|CODING|NM_001005484.1|1|1),"K562:PolII,K562:DNase1,HMEC:H3K27me3,K562:H2AZ,NHEK:H3K27me3,K562:H3K4me2,K562:H3K36me3",,,,,,,0.76,0.54,0.89,,0.000427(N),1.000(P),1.26(T),0.0000(T),0.012,-1.715368,2.31,1.15,-0.528000,0.267000,-0.270000,0.129000,0.993000,0.000000,4.1978
missense_variant,SAMD11,MISSENSE,NM_152486.2:p.Trp343Arg/c.1027T>C,Tgg/Cgg,MODERATE,COSM4144217(2),1,1,rs6672356,1(T),"0.0,0.0(B,B)",-2.085(N),-0.9803(T),,chr1,877831,877831,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp343Arg/c.1027T>C|681|SAMD11|protein_coding|CODING|NM_152486.2|10|1),downstream_gene_variant(MODIFIER||1752||749|NOC2L|protein_coding|CODING|NM_015658.3||1)","NH-A:DNase1,HeLa-S3:DNase1,HMEC:H3K27me3,K562:PolII,GM06990:H3K27me3,HeLa-S3:PolII,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,GM12878:H3K27me3,H1ESC:H3K27me3,HeLa-S3:H3K4me3,H1ESC:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1,HUVEC:DNase1",,,,1,1,1,,,,,0.002790(N),1.000(P),,0.0000(T),0.421,-1.111921,3.52,2.51,-0.701000,0.624000,1.209000,0.466000,0.994000,0.941000,7.519
synonymous_variant,NOC2L,SILENT,NM_015658.3:p.Leu615Leu/c.1843C>T,Ctg/Ttg,LOW,COSM1344685(3),0.441893,0.624,rs2272757,,,,,,chr1,881627,881627,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu615Leu/c.1843C>T|749|NOC2L|protein_coding|CODING|NM_015658.3|16|1),downstream_gene_variant(MODIFIER||1666||681|SAMD11|protein_coding|CODING|NM_152486.2||1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.438,0.6332,0.47,0.16,0.64,,,,,,,,,,,,,,,,
synonymous_variant,NOC2L,SILENT,NM_015658.3:p.Thr394Thr/c.1182T>C,acT/acC,LOW,COSM426785(2),0.922324,0.9206,rs3828047,,,,,,chr1,887801,887801,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr394Thr/c.1182T>C|749|NOC2L|protein_coding|CODING|NM_015658.3|10|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.9172,0.9193,0.9523,0.93,0.91,0.94,,,,,,,,,,,,,,,,
synonymous_variant,NOC2L,SILENT,NM_015658.3:p.Glu306Glu/c.918A>G,gaA/gaG,LOW,COSM4144218(1),0.922724,0.9206,rs3748596,,,,,,chr1,888639,888639,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu306Glu/c.918A>G|749|NOC2L|protein_coding|CODING|NM_015658.3|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.9172,0.9193,0.9533,0.93,0.91,0.94,,,,,,,,,,,,,,,,
missense_variant,NOC2L,MISSENSE,NM_015658.3:p.Ile300Val/c.898A>G,Atc/Gtc,MODERATE,COSM4144219(1),0.922724,0.9206,rs3748597,1(T),0.0(B),-2.24(N),-0.9571(T),,chr1,888659,888659,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile300Val/c.898A>G|749|NOC2L|protein_coding|CODING|NM_015658.3|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.9172,0.9193,0.9533,0.93,0.91,0.94,,0.069598(N),1.000(P),-0.39(T),0.0000(T),0.091,-2.240648,5.19,4.28,-0.215000,0.578000,0.538000,0.002000,0.599000,0.025000,7.6952
synonymous_variant,KLHL17,SILENT,NM_198317.2:p.Ala203Ala/c.609G>C,gcG/gcC,LOW,COSM3997700(1),0.859225,0.9157,rs4970441,,,,,,chr1,897325,897325,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala203Ala/c.609G>C|642|KLHL17|protein_coding|CODING|NM_198317.2|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,GM06990:H3K36me3,CD4:H4K20me1",,,,0.9172,0.8847,0.9433,0.86,0.73,0.93,,,,,,,,,,,,,,,,
synonymous_variant,KLHL17,SILENT,NM_198317.2:p.Leu239Leu/c.715C>T,Ctg/Ttg,LOW,COSM4144233(1),0.102037,0.0774,rs6696971,,,,,,chr1,897738,897738,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu239Leu/c.715C>T|642|KLHL17|protein_coding|CODING|NM_198317.2|5|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,GM06990:H3K36me3",,,,0.0767,0.0994,0.0507,0.11,0.18,0.07,,,,,,,,,,,,,,,,
synonymous_variant,KLHL17,SILENT,NM_198317.2:p.Asn585Asn/c.1755C>T,aaC/aaT,LOW,,0.029353,0,rs111560052,,,,,,chr1,900397,900397,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn585Asn/c.1755C>T|642|KLHL17|protein_coding|CODING|NM_198317.2|12|1),upstream_gene_variant(MODIFIER||1480||576|PLEKHN1|protein_coding|CODING|NM_001160184.1||1),upstream_gene_variant(MODIFIER||1480||611|PLEKHN1|protein_coding|CODING|NM_032129.2||1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,GM06990:H3K36me3",,,,0,0.013,0.006,0.04,0.10,0.01,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHN1,SILENT,NM_032129.2:p.Ala166Ala/c.498A>C,gcA/gcC,LOW,,0.180112,0.3304,rs28507236,,,,,,chr1,906272,906272,A,C,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala166Ala/c.498A>C|576|PLEKHN1|protein_coding|CODING|NM_001160184.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala166Ala/c.498A>C|611|PLEKHN1|protein_coding|CODING|NM_032129.2|6|1)","HUVEC:H3K27me3,NHEK:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,H1ESC:DNase1",,,,0.0982,0.1787,0.0755,0.10,0.14,0.08,,,,,,,,,,,,,,,,
missense_variant,PLEKHN1,MISSENSE,NM_032129.2:p.Arg487Pro/c.1460G>C,cGt/cCt,MODERATE,COSM3751448(1),0.776558,0.8869,rs3829740,0.28(T),"0.0,0.0,0.0(B,B,B)",-0.55(N),-1.0426(T),,chr1,909238,909238,G,C,het,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg452Pro/c.1355G>C|576|PLEKHN1|protein_coding|CODING|NM_001160184.1|13|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg487Pro/c.1460G>C|611|PLEKHN1|protein_coding|CODING|NM_032129.2|14|1),downstream_gene_variant(MODIFIER||1341||790|PERM1|protein_coding|CODING|NM_001291366.1||1),downstream_gene_variant(MODIFIER||1341||696|PERM1|protein_coding|CODING|NM_001291367.1||1)","GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,H1ESC:H3K27me3",,,,0.8303,0.6931,0.6183,0.65,0.78,0.58,,0.413783(N),1.000(P),"0.99,1.0,1.0(T,T,T)",0.0000(T),0.09,-0.294888,4.65,2.45,-0.546000,0.456000,0.311000,0.004000,0.007000,0.000000,2.6504
missense_variant,PLEKHN1,MISSENSE,NM_032129.2:p.Ser511Pro/c.1531T>C,Tcc/Ccc,MODERATE,COSM4144242(1),0.254193,0.2758,rs3829738,0.3(T),"0.001,0.001,0.001(B,B,B)",0.895(L),-1.0443(T),,chr1,909309,909309,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser476Pro/c.1426T>C|576|PLEKHN1|protein_coding|CODING|NM_001160184.1|13|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser511Pro/c.1531T>C|611|PLEKHN1|protein_coding|CODING|NM_032129.2|14|1),downstream_gene_variant(MODIFIER||1270||790|PERM1|protein_coding|CODING|NM_001291366.1||1),downstream_gene_variant(MODIFIER||1270||696|PERM1|protein_coding|CODING|NM_001291367.1||1)","GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,H1ESC:H3K27me3",,,,0.3456,0.2248,0.1839,0.19,0.24,0.17,,0.668062(N),1.000(P),"0.6,0.48,0.59(T,T,T)",0.0000(T),0.08,-0.166189,3.83,-7.66,0.342000,-1.637000,-0.670000,0.004000,0.000000,0.000000,0.9724
synonymous_variant,PLEKHN1,SILENT,NM_032129.2:p.Asp547Asp/c.1641C>T,gaC/gaT,LOW,COSM3751450(2),0.111222,0.0962,rs28548431,,,,,,chr1,909419,909419,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp512Asp/c.1536C>T|576|PLEKHN1|protein_coding|CODING|NM_001160184.1|13|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp547Asp/c.1641C>T|611|PLEKHN1|protein_coding|CODING|NM_032129.2|14|1),downstream_gene_variant(MODIFIER||1160||790|PERM1|protein_coding|CODING|NM_001291366.1||1),downstream_gene_variant(MODIFIER||1160||696|PERM1|protein_coding|CODING|NM_001291367.1||1)","GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,H1ESC:H3K27me3",,,,0.1452,0.0778,0.1839,0.14,0.06,0.19,,,,,,,,,,,,,,,,
missense_variant,PERM1,MISSENSE,NM_001291366.1:p.Val777Ala/c.2330T>C,gTg/gCg,MODERATE,COSM4144246(3),0.710264,0.9246,rs7417106,0(D),0.103(B),,-1.0522(T),,chr1,911595,911595,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val777Ala/c.2330T>C|790|PERM1|protein_coding|CODING|NM_001291366.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val683Ala/c.2048T>C|696|PERM1|protein_coding|CODING|NM_001291367.1|5|1),downstream_gene_variant(MODIFIER||1111||576|PLEKHN1|protein_coding|CODING|NM_001160184.1||1),downstream_gene_variant(MODIFIER||1111||611|PLEKHN1|protein_coding|CODING|NM_032129.2||1)","NHEK:CTCF,HSMM:DNase1,HepG2:H3K4me2,HeLa-S3:DNase1,HMEC:CTCF,GM06990:H3K27me3,K562:H3K27me3,GM12878:H3K27me3,HepG2:H3K4me3,K562:Rad21,CD4:DNase1,CD4:CTCF,K562:CTCF,HepG2:CTCF,GM12878:Rad21,H1ESC:H3K27me3,HUVEC:CTCF,HepG2:DNase1,HMEC:DNase1,H1ESC:DNase1,HSMM:CTCF,H1ESC:Gabp,CD4:H4K20me1,HepG2:Rad21,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,HeLa-S3:CTCF,H1ESC:CTCF,GM12878:CTCF,GM06990:CTCF,HUVEC:DNase1",,,,0.7526,0.8012,0.7873,,,,,0.174340(N),1.000(P),0.7(T),0.0000(T),0.123,1.739152,4.94,2.15,0.248000,0.265000,0.190000,0.158000,0.279000,0.002000,6.7836
synonymous_variant,PERM1,SILENT,NM_001291366.1:p.Arg746Arg/c.2238G>A,agG/agA,LOW,COSM4144247(1),0.182308,0.0744,rs74045046,,,,,,chr1,911916,911916,C,T,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg746Arg/c.2238G>A|790|PERM1|protein_coding|CODING|NM_001291366.1|3|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg652Arg/c.1956G>A|696|PERM1|protein_coding|CODING|NM_001291367.1|4|1),downstream_gene_variant(MODIFIER||1432||576|PLEKHN1|protein_coding|CODING|NM_001160184.1||1),downstream_gene_variant(MODIFIER||1432||611|PLEKHN1|protein_coding|CODING|NM_032129.2||1)","HeLa-S3:DNase1,K562:H3K27me3,HepG2:H3K4me3,HeLa-S3:Ap2gamma,H1ESC:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,H1ESC:DNase1,CD4:H4K20me1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:DNase1,HUVEC:DNase1",,,,0.2342,0.1268,0.163,,,,,,,,,,,,,,,,,,,
missense_variant,PERM1,MISSENSE,NM_001291366.1:p.Ser512Gly/c.1534A>G,Agc/Ggc,MODERATE,,0.966853,0.999,rs13302983,0.43(T),0.004(B),,-1.0002(T),,chr1,914876,914876,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser418Gly/c.1252A>G|696|PERM1|protein_coding|CODING|NM_001291367.1|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser512Gly/c.1534A>G|790|PERM1|protein_coding|CODING|NM_001291366.1|2|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9847,0.9539,0.9592,,,,,0.211142(N),1.000(P),"0.65,0.65(T,T)",0.0000(T),0.044,1.343971,4.81,-2.46,-1.940000,-0.248000,-0.959000,0.005000,0.001000,0.000000,2.6788
synonymous_variant,PERM1,SILENT,NM_001291366.1:p.Leu395Leu/c.1183T>C,Ttg/Ctg,LOW,,0.918131,0.999,rs13303355,,,,,,chr1,915227,915227,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu301Leu/c.901T>C|696|PERM1|protein_coding|CODING|NM_001291367.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu395Leu/c.1183T>C|790|PERM1|protein_coding|CODING|NM_001291366.1|2|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9847,0.9409,0.9592,,,,,,,,,,,,,,,,,,,
synonymous_variant,PERM1,SILENT,NM_001291366.1:p.Asp247Asp/c.741C>T,gaC/gaT,LOW,,,,rs147218770,,,,,,chr1,915669,915669,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp153Asp/c.459C>T|696|PERM1|protein_coding|CODING|NM_001291367.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp247Asp/c.741C>T|790|PERM1|protein_coding|CODING|NM_001291366.1|2|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PERM1,MISSENSE,NM_001291367.1:p.Trp20Arg/c.58T>C,Tgg/Cgg,MODERATE,,0.758586,0.88,rs6660139,0.37(T),,,-1.0086(T),,chr1,916549,916549,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp20Arg/c.58T>C|696|PERM1|protein_coding|CODING|NM_001291367.1|2|1),intron_variant(MODIFIER|||c.-18-122T>C|790|PERM1|protein_coding|CODING|NM_001291366.1|1|1)","GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.8323,0.781,0.7584,,,,,,1.000(P),0.82(T),0.0000(T),0.05,0.036572,4.43,-2.36,-1.140000,-0.945000,-0.761000,0.000000,0.000000,0.000000,1.1057
synonymous_variant,PERM1,SILENT,NM_001291367.1:p.Pro2Pro/c.6G>A,ccG/ccA,LOW,,0.180511,0.0734,rs28434575,,,,,,chr1,917492,917492,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2Pro/c.6G>A|696|PERM1|protein_coding|CODING|NM_001291367.1|1|1),5_prime_UTR_variant(MODIFIER||1083|c.-66G>A|790|PERM1|protein_coding|CODING|NM_001291366.1|1|1)","HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.2249,0.1254,0.163,,,,,,,,,,,,,,,,,,,
missense_variant,ISG15,MISSENSE,NM_005101.3:p.Ser83Asn/c.248G>A,aGc/aAc,MODERATE,COSM3751464(2),0.338858,0.1845,rs1921,0(D),0.005(B),1.265(L),-0.9028(T),,chr1,949608,949608,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser83Asn/c.248G>A|165|ISG15|protein_coding|CODING|NM_005101.3|2|1),"K562:H3K4me3,HepG2:H3K4me2,HUVEC:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,GM12878:PolII,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,NHEK:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:H3K4me3",,,,0.3558,0.2709,0.3926,0.40,0.41,0.39,,0.000631(N),1.000(P),1.59(T),0.0000(T),0.012,-0.227652,3.99,-2.36,-0.925000,-0.675000,-1.538000,0.152000,0.204000,0.000000,9.972
synonymous_variant,ISG15,SILENT,NM_005101.3:p.Val98Val/c.294A>G,gtA/gtG,LOW,COSM3773520(1),0.825679,0.9266,rs8997,,,,,,chr1,949654,949654,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val98Val/c.294A>G|165|ISG15|protein_coding|CODING|NM_005101.3|2|1),"K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,GM12878:PolII,CD4:H4K91ac,GM12878:H3K27ac,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:H3K4me3,HUVEC:DNase1",,,,0.9622,0.9179,0.9453,0.82,0.57,0.95,,,,,,,,,,,,,,,,
synonymous_variant,AGRN,SILENT,NM_198576.3:p.Pro15Pro/c.45G>T,ccG/ccT,LOW,,0.282548,0.1667,rs115173026,,,,,,chr1,955597,955597,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro15Pro/c.45G>T|2045|AGRN|protein_coding|CODING|NM_198576.3|1|1),"K562:H3K4me3,HeLa-S3:DNase1,K562:E2F6,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,HeLa-S3:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:H3K9ac,H1ESC:H3K27ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,H1ESC:DNase1,HeLa-S3:E2F1,HepG2:PolII,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,H1ESC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM06990:H3K4me3,HepG2:HEY1,GM12878:Sin3Ak20,HUVEC:DNase1",,RCV000116272.2,,0.3272,0.2334,0.3489,,,,,,,,,,,,,,,,,,,
synonymous_variant,AGRN,SILENT,NM_198576.3:p.Ser1022Ser/c.3066A>G,tcA/tcG,LOW,COSM1126908(5),0.797724,0.9633,rs2465128,,,,,,chr1,981931,981931,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1022Ser/c.3066A>G|2045|AGRN|protein_coding|CODING|NM_198576.3|18|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000116259.1,,0.9059,0.8905,0.9125,0.78,0.53,0.91,,,,,,,,,,,,,,,,
synonymous_variant,AGRN,SILENT,NM_198576.3:p.Phe1186Phe/c.3558T>C,ttT/ttC,LOW,COSM4144271(1),0.835863,0.999,rs10267,,,,,,chr1,982994,982994,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1186Phe/c.3558T>C|2045|AGRN|protein_coding|CODING|NM_198576.3|21|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,RCV000116264.1,,0.9663,0.9035,0.9205,0.79,0.54,0.92,,,,,,,,,,,,,,,,
synonymous_variant,AGRN,SILENT,NM_198576.3:p.Thr1387Thr/c.4161T>C,acT/acC,LOW,,0.545727,0.8294,rs9442391,,,,,,chr1,984302,984302,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr1387Thr/c.4161T>C|2045|AGRN|protein_coding|CODING|NM_198576.3|24|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,GM06990:H3K36me3",,RCV000116269.1,,0.5654,0.6614,0.5636,0.46,0.28,0.55,,,,,,,,,,,,,,,,
synonymous_variant,AGRN,SILENT,NM_198576.3:p.Asp2019Asp/c.6057C>T,gaC/gaT,LOW,,0.585264,0.8214,rs4275402,,,,,,chr1,990280,990280,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2019Asp/c.6057C>T|2045|AGRN|protein_coding|CODING|NM_198576.3|36|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,RCV000116281.1,,0.5838,0.7262,0.6779,0.58,0.33,0.71,,,,,,,,,,,,,,,,
synonymous_variant,RNF223,SILENT,NM_001205252.1:p.Asp248Asp/c.744T>C,gaT/gaC,LOW,,0.841254,0.9196,rs4633229,,,,,,chr1,1007203,1007203,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp248Asp/c.744T>C|249|RNF223|protein_coding|CODING|NM_001205252.1|2|1),"HMEC:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.7843,0.8112,0.7883,,,,,,,,,,,,,,,,,,,
missense_variant,RNF223,MISSENSE,NM_001205252.1:p.Ala172Val/c.515C>T,gCg/gTg,MODERATE,COSM4142057(1),0.532149,0.7917,rs4333796,0.45(T),,0.145(N),-0.9664(T),,chr1,1007432,1007432,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala172Val/c.515C>T|249|RNF223|protein_coding|CODING|NM_001205252.1|2|1),"HMEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,HUVEC:DNase1",,,,0.5481,0.6643,0.5616,,,,,,1.000(P),-1.67(D),0.0000(T),0.119,-0.544386,4.0,-7.35,-0.675000,-0.670000,-0.792000,0.001000,0.000000,0.000000,3.3078
synonymous_variant,C1orf159,SILENT,NM_017891.4:p.Ile119Ile/c.357T>C,atT/atC,LOW,,0.178914,0.122,rs10907177,,,,,,chr1,1021346,1021346,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile119Ile/c.357T>C|198|C1orf159|protein_coding|CODING|NM_017891.4|7|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:H3K36me3,HUVEC:DNase1",,,,0.1881,0.1311,0.1809,0.19,0.24,0.16,,,,,,,,,,,,,,,,
missense_variant,TTLL10,MISSENSE,NM_001130045.1:p.Gly248Arg/c.742G>A,Ggg/Agg,MODERATE,,0.00159744,0,rs200208314,0.58(T),"0.187,0.574(B,P)",0.345(N),-0.9619(T),,chr1,1116227,1116227,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly248Arg/c.742G>A|673|TTLL10|protein_coding|CODING|NM_001130045.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly175Arg/c.523G>A|404|TTLL10|protein_coding|CODING|NM_153254.2|4|1)","K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0,0.0029,0.006,0.00,0.00,0.00,,0.088728(U),1.000(N),"0.99,0.99,0.99(T,T,T)",0.0385(T),0.053,0.624202,3.3,-3.58,0.196000,-0.327000,-0.153000,0.007000,0.000000,0.000000,6.2269
synonymous_variant,SDF4,SILENT,NM_016176.3:p.Asp190Asp/c.570T>C,gaT/gaC,LOW,COSM3750258(2),0.953275,1,rs6603781,,,,,,chr1,1158631,1158631,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp190Asp/c.570T>C|362|SDF4|protein_coding|CODING|NM_016176.3|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp190Asp/c.570T>C|348|SDF4|protein_coding|CODING|NM_016547.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,K562:PolII,GM12878:Pbx3,GM12878:BCL3,GM12878:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.956,0.9294,0.8608,0.92,0.98,0.89,,,0.000(P),,,.,-1.117338,4.61,-8.16,-2.258000,-2.462000,-0.115000,0.076000,0.019000,0.676000,17.3356
synonymous_variant,CPSF3L,SILENT,NM_001256456.1:p.Pro553Pro/c.1659A>G,ccA/ccG,LOW,,0.319289,0.0188,rs12103,,,,,,chr1,1247494,1247494,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro553Pro/c.1659A>G|606|CPSF3L|protein_coding|CODING|NM_001256456.1|18|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro518Pro/c.1554A>G|571|CPSF3L|protein_coding|CODING|NM_001256460.1|17|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro449Pro/c.1347A>G|502|CPSF3L|protein_coding|CODING|NM_001256462.1|14|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro446Pro/c.1338A>G|499|CPSF3L|protein_coding|CODING|NM_001256463.1|14|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro547Pro/c.1641A>G|600|CPSF3L|protein_coding|CODING|NM_017871.5|16|1),downstream_gene_variant(MODIFIER||388|||MIR6727||NON_CODING|NR_106785.1||1),downstream_gene_variant(MODIFIER||437||303|PUSL1|protein_coding|CODING|NM_153339.1||1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3,HepG2:PolII",Inflammatory_bowel_disease,,,0.3415,0.4424,0.8121,0.60,0.20,0.81,,,,,,,,,,,,,,,,
synonymous_variant,CPSF3L,SILENT,NM_001256456.1:p.Phe300Phe/c.900C>T,ttC/ttT,LOW,COSM4142284(1),0.310104,0.0188,rs12142199,,,,,,chr1,1249187,1249187,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe300Phe/c.900C>T|606|CPSF3L|protein_coding|CODING|NM_001256456.1|11|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe265Phe/c.795C>T|571|CPSF3L|protein_coding|CODING|NM_001256460.1|10|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe196Phe/c.588C>T|502|CPSF3L|protein_coding|CODING|NM_001256462.1|7|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe193Phe/c.579C>T|499|CPSF3L|protein_coding|CODING|NM_001256463.1|7|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe294Phe/c.882C>T|600|CPSF3L|protein_coding|CODING|NM_017871.5|9|1),upstream_gene_variant(MODIFIER||1241|||MIR6727||NON_CODING|NR_106785.1||1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,GM12878:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.3405,0.4395,0.8052,0.59,0.17,0.80,,,,,,,,,,,,,,,,
synonymous_variant,CPSF3L,SILENT,NM_001256456.1:p.Gly94Gly/c.282G>C,ggG/ggC,LOW,,0.713658,0.8353,rs10907179,,,,,,chr1,1254841,1254841,C,G,hom,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly94Gly/c.282G>C|606|CPSF3L|protein_coding|CODING|NM_001256456.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly59Gly/c.177G>C|571|CPSF3L|protein_coding|CODING|NM_001256460.1|5|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly88Gly/c.264G>C|600|CPSF3L|protein_coding|CODING|NM_017871.5|4|1),intron_variant(MODIFIER|||c.139+3716G>C|502|CPSF3L|protein_coding|CODING|NM_001256462.1|2|1),intron_variant(MODIFIER|||c.126+1535G>C|499|CPSF3L|protein_coding|CODING|NM_001256463.1|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.8323,0.8545,0.9205,0.75,0.40,0.93,,,,,,,,,,,,,,,,
synonymous_variant,CPTP,SILENT,NM_001029885.1:p.Arg156Arg/c.468C>T,cgC/cgT,LOW,COSM3750295(1),0.76258,0.8323,rs307349,,,,,,chr1,1262966,1262966,C,T,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg156Arg/c.468C>T|214|CPTP|protein_coding|CODING|NM_001029885.1|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3,CD4:H4K20me1",,,,0.8323,0.8732,0.9155,0.81,0.58,0.93,,,,,,,,,,,,,,,,
missense_variant,TAS1R3,MISSENSE,NM_152228.1:p.Glu45Lys/c.133G>A,Gag/Aag,MODERATE,COSM3930303(1),,,rs137986343,0.31(T),0.033(B),0(N),-0.5822(T),,chr1,1266858,1266858,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu45Lys/c.133G>A|852|TAS1R3|protein_coding|CODING|NM_152228.1|1|1),"HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Max,HeLa-S3:Ap2gamma,HepG2:DNase1,H1ESC:DNase1,HepG2:H3K27me3,CD4:H4K20me1,K562:DNase1",,,,,,,0.00,0.00,0.00,,0.002822(N),1.000(N),-2.48(D),0.3184(T),0.208,0.650304,4.18,-5.54,0.313000,-0.503000,-0.549000,0.062000,0.001000,0.000000,5.9401
missense_variant,TAS1R3,MISSENSE,NM_152228.1:p.Cys757Arg/c.2269T>C,Tgc/Cgc,MODERATE,COSM4142285(1),0.951877,0.9137,rs307377,0.33(T),0.0(B),-1.79(N),-0.9480(T),,chr1,1269554,1269554,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys757Arg/c.2269T>C|852|TAS1R3|protein_coding|CODING|NM_152228.1|6|1),downstream_gene_variant(MODIFIER||1104||670|DVL1|protein_coding|CODING|NM_004421.2||1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,K562:PolII,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3,HepG2:PolII",,,,0.9172,0.9813,0.9662,0.98,0.99,0.97,,0.047555(N),1.000(P),-2.22(D),0.0000(T),0.141,-2.569503,4.59,-0.839,-0.366000,-0.627000,0.423000,0.154000,0.001000,0.207000,1.084
synonymous_variant,DVL1,SILENT,NM_004421.2:p.Pro122Pro/c.366A>G,ccA/ccG,LOW,COSM3750299(1),0.998003,0.999,rs307362,,,,,,chr1,1277533,1277533,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro122Pro/c.366A>G|670|DVL1|protein_coding|CODING|NM_004421.2|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.998,0.9986,0.994,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,ATAD3C,MISSENSE,NM_001039211.2:p.Ile50Asn/c.149T>A,aTc/aAc,MODERATE,,0.000199681,0,rs199583997,0(D),0.994(D),2.985(M),0.9396(D),,chr1,1387499,1387499,T,A,het,missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile50Asn/c.149T>A|411|ATAD3C|protein_coding|CODING|NM_001039211.2|2|1),"NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0,0.0014,0,0.00,0.00,0.00,,0.000024(D),1.000(D),-3.79(D),0.9116(D),0.383,-0.023936,2.31,2.31,0.333000,1.070000,2.666000,0.033000,0.997000,1.000000,7.7129
missense_variant,MIB2,MISSENSE,NM_080875.2:p.Phe72Leu/c.214T>C,Ttc/Ctc,MODERATE,COSM4142786(1),0.477037,0.2054,rs7418389,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-0.9314(T),,chr1,1551927,1551927,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe72Leu/c.214T>C|1066|MIB2|protein_coding|CODING|NM_001170686.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe72Leu/c.214T>C|1056|MIB2|protein_coding|CODING|NM_001170687.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe72Leu/c.214T>C|1005|MIB2|protein_coding|CODING|NM_001170688.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe72Leu/c.214T>C|1070|MIB2|protein_coding|CODING|NM_080875.2|2|1),5_prime_UTR_variant(MODIFIER||6906|c.-90T>C|753|MIB2|protein_coding|CODING|NM_001170689.1|2|1),non_coding_exon_variant(MODIFIER|||n.259T>C||MIB2||CODING|NR_033183.1|2|1)","NHEK:H3K9ac,NH-A:H3K4me3,K562:H3K4me3,HepG2:H3K4me2,IMR90:H3K36me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HepG2:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HepG2:H3K9ac,IMR90:H3K4me2,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,GM06990:H3K4me3,HUVEC:DNase1",,,,0.4366,0.4813,0.7058,0.67,0.56,0.72,,,0.999(P),"1.41,1.45,1.44,1.44,1.18,1.4,1.41(T,T,T,T,T,T,T)",0.0000(T),0.099,-0.435458,2.73,0.364,-0.674000,0.044000,0.221000,0.176000,0.120000,0.002000,1.1038
missense_variant,MIB2,MISSENSE,NM_080875.2:p.Met102Thr/c.305T>C,aTg/aCg,MODERATE,,0.773562,0.5516,rs12755088,0.31(T),"0.004,0.0,0.0(B,B,B)",0(N),-0.9996(T),,chr1,1558792,1558792,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met102Thr/c.305T>C|1066|MIB2|protein_coding|CODING|NM_001170686.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met102Thr/c.305T>C|1005|MIB2|protein_coding|CODING|NM_001170688.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met102Thr/c.305T>C|1070|MIB2|protein_coding|CODING|NM_080875.2|3|1),intron_variant(MODIFIER|||c.282-19T>C|1056|MIB2|protein_coding|CODING|NM_001170687.1|2|1),intron_variant(MODIFIER|||c.-22-19T>C|753|MIB2|protein_coding|CODING|NM_001170689.1|2|1),non_coding_exon_variant(MODIFIER|||n.350T>C||MIB2||CODING|NR_033183.1|3|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me1",,,,0.8599,0.8674,0.9364,0.89,0.77,0.94,,0.135053(U),1.000(P),"1.36,1.4,1.4,1.4,1.42,1.36,1.44(T,T,T,T,T,T,T)",0.0000(T),0.13,0.617033,1.5,-2.47,0.147000,-0.339000,.,0.374000,0.014000,.,4.7295
synonymous_variant,SLC35E2B,SILENT,NM_001110781.2:p.Ser286Ser/c.858T>C,agT/agC,LOW,,,,rs2072923,,,,,,chr1,1599888,1599888,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser286Ser/c.858T>C|405|SLC35E2B|protein_coding|CODING|NM_001110781.2|8|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser286Ser/c.858T>C|405|SLC35E2B|protein_coding|CODING|NM_001290264.1|9|1),intron_variant(MODIFIER|||c.-14-22526T>C|526|CDK11B|protein_coding|CODING|NM_033487.2|5|1),intron_variant(MODIFIER|||c.596-22019T>C|770|CDK11B|protein_coding|CODING|NM_001291345.1|6|1),intron_variant(MODIFIER|||c.626-22019T>C|793|CDK11B|protein_coding|CODING|NM_001787.2|6|1),intron_variant(MODIFIER|||c.626-22019T>C|780|CDK11B|protein_coding|CODING|NM_033486.2|6|1),intron_variant(MODIFIER|||c.524-22019T>C|746|CDK11B|protein_coding|CODING|NM_033489.2|7|1),intron_variant(MODIFIER|||c.-20-22019T>C|565|CDK11B|protein_coding|CODING|NM_033490.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDK11A,SILENT,NM_024011.2:p.Lys657Lys/c.1971A>G,aaA/aaG,LOW,,0.592252,0.3849,rs874516,,,,,,chr1,1635004,1635004,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys657Lys/c.1971A>G|780|CDK11A|protein_coding|CODING|NM_024011.2|18|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys647Lys/c.1941A>G|770|CDK11A|protein_coding|CODING|NM_033529.2|18|1),downstream_gene_variant(MODIFIER||1757|||MMP23A||NON_CODING|NR_002946.1.2||1),intron_variant(MODIFIER|||c.-15+12781A>G|526|CDK11B|protein_coding|CODING|NM_033487.2|5|1),intron_variant(MODIFIER|||c.595+8699A>G|770|CDK11B|protein_coding|CODING|NM_001291345.1|6|1),intron_variant(MODIFIER|||c.625+8699A>G|793|CDK11B|protein_coding|CODING|NM_001787.2|6|1),intron_variant(MODIFIER|||c.625+8699A>G|780|CDK11B|protein_coding|CODING|NM_033486.2|6|1),intron_variant(MODIFIER|||c.523+8699A>G|746|CDK11B|protein_coding|CODING|NM_033489.2|7|1),intron_variant(MODIFIER|||c.-21+12781A>G|565|CDK11B|protein_coding|CODING|NM_033490.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.4632,0.5014,0.5626,0.62,0.79,0.56,,,,,,,,,,,,,,,,
synonymous_variant,CDK11A,SILENT,NM_024011.2:p.Arg533Arg/c.1599G>T,cgG/cgT,LOW,COSM4142950(3),0.397564,0.252,rs55880629,,,,,,chr1,1635749,1635749,C,A,het,"synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg533Arg/c.1599G>T|780|CDK11A|protein_coding|CODING|NM_024011.2|15|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg523Arg/c.1569G>T|770|CDK11A|protein_coding|CODING|NM_033529.2|15|1),intron_variant(MODIFIER|||c.-15+12036G>T|526|CDK11B|protein_coding|CODING|NM_033487.2|5|1),intron_variant(MODIFIER|||c.595+7954G>T|770|CDK11B|protein_coding|CODING|NM_001291345.1|6|1),intron_variant(MODIFIER|||c.625+7954G>T|793|CDK11B|protein_coding|CODING|NM_001787.2|6|1),intron_variant(MODIFIER|||c.625+7954G>T|780|CDK11B|protein_coding|CODING|NM_033486.2|6|1),intron_variant(MODIFIER|||c.523+7954G>T|746|CDK11B|protein_coding|CODING|NM_033489.2|7|1),intron_variant(MODIFIER|||c.-21+12036G>T|565|CDK11B|protein_coding|CODING|NM_033490.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.3507,0.4553,0.5368,0.47,0.39,0.51,,,,,,,,,,,,,,,,
synonymous_variant,CDK11A,SILENT,NM_024011.2:p.Tyr503Tyr/c.1509C>T,taC/taT,LOW,COSM146375(2),0.647963,0.4643,rs1059822,,,,,,chr1,1636044,1636044,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr503Tyr/c.1509C>T|780|CDK11A|protein_coding|CODING|NM_024011.2|14|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr493Tyr/c.1479C>T|770|CDK11A|protein_coding|CODING|NM_033529.2|14|1),intron_variant(MODIFIER|||c.-15+11741C>T|526|CDK11B|protein_coding|CODING|NM_033487.2|5|1),intron_variant(MODIFIER|||c.595+7659C>T|770|CDK11B|protein_coding|CODING|NM_001291345.1|6|1),intron_variant(MODIFIER|||c.625+7659C>T|793|CDK11B|protein_coding|CODING|NM_001787.2|6|1),intron_variant(MODIFIER|||c.625+7659C>T|780|CDK11B|protein_coding|CODING|NM_033486.2|6|1),intron_variant(MODIFIER|||c.523+7659C>T|746|CDK11B|protein_coding|CODING|NM_033489.2|7|1),intron_variant(MODIFIER|||c.-21+11741C>T|565|CDK11B|protein_coding|CODING|NM_033490.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3,HUVEC:DNase1",,,,0.5562,0.562,0.5924,0.66,0.88,0.56,,,,,,,,,,,,,,,,
synonymous_variant,CDK11B,SILENT,NM_001787.2:p.Glu153Glu/c.459A>G,gaA/gaG,LOW,,,,rs72901775,0.02(D),,,-0.8958(T),,chr1,1647814,1647814,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu143Glu/c.429A>G|770|CDK11B|protein_coding|CODING|NM_001291345.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu153Glu/c.459A>G|793|CDK11B|protein_coding|CODING|NM_001787.2|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu153Glu/c.459A>G|780|CDK11A|protein_coding|CODING|NM_024011.2|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu153Glu/c.459A>G|780|CDK11B|protein_coding|CODING|NM_033486.2|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu119Glu/c.357A>G|746|CDK11B|protein_coding|CODING|NM_033489.2|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu143Glu/c.429A>G|770|CDK11A|protein_coding|CODING|NM_033529.2|5|1),5_prime_UTR_variant(MODIFIER||70466|c.-44A>G|526|CDK11B|protein_coding|CODING|NM_033487.2|5|1),5_prime_UTR_variant(MODIFIER||69965|c.-50A>G|565|CDK11B|protein_coding|CODING|NM_033490.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,0.000(P),,0.0000(T),.,-0.407150,4.56,0.358,-1.407000,-0.064000,0.108000,0.192000,0.842000,0.982000,12.4983
synonymous_variant,CDK11B,SILENT,NM_001787.2:p.Arg134Arg/c.402A>G,cgA/cgG,LOW,COSM4142966(2),,,rs72909014,,,,,,chr1,1647871,1647871,T,C,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg124Arg/c.372A>G|770|CDK11B|protein_coding|CODING|NM_001291345.1|5|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg134Arg/c.402A>G|793|CDK11B|protein_coding|CODING|NM_001787.2|5|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg134Arg/c.402A>G|780|CDK11A|protein_coding|CODING|NM_024011.2|5|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg134Arg/c.402A>G|780|CDK11B|protein_coding|CODING|NM_033486.2|5|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg100Arg/c.300A>G|746|CDK11B|protein_coding|CODING|NM_033489.2|6|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg124Arg/c.372A>G|770|CDK11A|protein_coding|CODING|NM_033529.2|5|1),5_prime_UTR_variant(MODIFIER||70523|c.-101A>G|526|CDK11B|protein_coding|CODING|NM_033487.2|5|1),5_prime_UTR_variant(MODIFIER||70022|c.-107A>G|565|CDK11B|protein_coding|CODING|NM_033490.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CDK11B,MISSENSE,NM_001787.2:p.His112Arg/c.335A>G,cAt/cGt,MODERATE,,,,rs1137003,1(T),"0.0,0.002,0.0,0.0(B,B,B,B)",,-0.8730(T),,chr1,1650787,1650787,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His112Arg/c.335A>G|793|CDK11B|protein_coding|CODING|NM_001787.2|4|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His112Arg/c.335A>G|780|CDK11A|protein_coding|CODING|NM_024011.2|4|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His112Arg/c.335A>G|780|CDK11B|protein_coding|CODING|NM_033486.2|4|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His78Arg/c.233A>G|746|CDK11B|protein_coding|CODING|NM_033489.2|5|1),5_prime_UTR_variant(MODIFIER||73439|c.-168A>G|526|CDK11B|protein_coding|CODING|NM_033487.2|4|1),5_prime_UTR_variant(MODIFIER||72938|c.-174A>G|565|CDK11B|protein_coding|CODING|NM_033490.2|4|1),intron_variant(MODIFIER|||c.325+10A>G|770|CDK11B|protein_coding|CODING|NM_001291345.1|4|1),intron_variant(MODIFIER|||c.325+10A>G|770|CDK11A|protein_coding|CODING|NM_033529.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"3.56,3.6,3.56(T,T,T)",0.0000(T),0.243,0.491257,4.87,4.87,-0.119000,1.053000,5.293000,0.942000,0.816000,1.000000,12.4561
missense_variant,CDK11B,MISSENSE,NM_001787.2:p.Cys109Arg/c.325T>C,Tgt/Cgt,MODERATE,COSM119024(2),,,rs1059830,1(T),"0.0,0.001,0.0,0.0(B,B,B,B)",-0.975(N),-0.9038(T),,chr1,1650797,1650797,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys109Arg/c.325T>C|793|CDK11B|protein_coding|CODING|NM_001787.2|4|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys109Arg/c.325T>C|780|CDK11A|protein_coding|CODING|NM_024011.2|4|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys109Arg/c.325T>C|780|CDK11B|protein_coding|CODING|NM_033486.2|4|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys75Arg/c.223T>C|746|CDK11B|protein_coding|CODING|NM_033489.2|5|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp109Arg/c.325T>C|770|CDK11B|protein_coding|CODING|NM_001291345.1|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp109Arg/c.325T>C|770|CDK11A|protein_coding|CODING|NM_033529.2|4|1),splice_region_variant(LOW|||c.325T>C|770|CDK11B|protein_coding|CODING|NM_001291345.1|4|1),splice_region_variant(LOW|||c.325T>C|770|CDK11A|protein_coding|CODING|NM_033529.2|4|1),5_prime_UTR_variant(MODIFIER||73449|c.-178T>C|526|CDK11B|protein_coding|CODING|NM_033487.2|4|1),5_prime_UTR_variant(MODIFIER||72948|c.-184T>C|565|CDK11B|protein_coding|CODING|NM_033490.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,,,,,,,,,0.903(N),"2.15,2.15,2.15(T,T,T)",0.0000(T),0.296,-0.174157,4.87,4.87,-0.119000,1.053000,4.389000,0.980000,0.936000,1.000000,12.4561
synonymous_variant,CDK11B,SILENT,NM_001787.2:p.Glu107Glu/c.321A>G,gaA/gaG,LOW,,,,rs1137004,,,,,,chr1,1650801,1650801,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu107Glu/c.321A>G|793|CDK11B|protein_coding|CODING|NM_001787.2|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu107Glu/c.321A>G|780|CDK11A|protein_coding|CODING|NM_024011.2|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu107Glu/c.321A>G|780|CDK11B|protein_coding|CODING|NM_033486.2|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu73Glu/c.219A>G|746|CDK11B|protein_coding|CODING|NM_033489.2|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu107Glu/c.321A>G|770|CDK11B|protein_coding|CODING|NM_001291345.1|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu107Glu/c.321A>G|770|CDK11A|protein_coding|CODING|NM_033529.2|4|1),5_prime_UTR_variant(MODIFIER||73453|c.-182A>G|526|CDK11B|protein_coding|CODING|NM_033487.2|4|1),5_prime_UTR_variant(MODIFIER||72952|c.-188A>G|565|CDK11B|protein_coding|CODING|NM_033490.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDK11B,SILENT,NM_001787.2:p.Arg105Arg/c.315A>G,agA/agG,LOW,COSM4142968(1),0.747404,0.7788,rs1137005,,,,,,chr1,1650807,1650807,T,C,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg105Arg/c.315A>G|793|CDK11B|protein_coding|CODING|NM_001787.2|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg105Arg/c.315A>G|780|CDK11A|protein_coding|CODING|NM_024011.2|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg105Arg/c.315A>G|780|CDK11B|protein_coding|CODING|NM_033486.2|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg71Arg/c.213A>G|746|CDK11B|protein_coding|CODING|NM_033489.2|5|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg105Arg/c.315A>G|770|CDK11B|protein_coding|CODING|NM_001291345.1|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg105Arg/c.315A>G|770|CDK11A|protein_coding|CODING|NM_033529.2|4|1),5_prime_UTR_variant(MODIFIER||73459|c.-188A>G|526|CDK11B|protein_coding|CODING|NM_033487.2|4|1),5_prime_UTR_variant(MODIFIER||72958|c.-194A>G|565|CDK11B|protein_coding|CODING|NM_033490.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.7781,0.879,0.9215,,,,,,,,,,,,,,,,,,,
missense_variant,CDK11B,MISSENSE,NM_001787.2:p.Val97Ala/c.290T>C,gTt/gCt,MODERATE,,,,rs72909030,0.96(T),"0.007,0.0,0.004,0.008,0.005,0.0,0.018,0.01,0.004,0.0,0.007(B,B,B,B,B,B,B,B,B,B,B)",-0.695(N),-0.9228(T),,chr1,1650832,1650832,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val97Ala/c.290T>C|793|CDK11B|protein_coding|CODING|NM_001787.2|4|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val97Ala/c.290T>C|780|CDK11A|protein_coding|CODING|NM_024011.2|4|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val97Ala/c.290T>C|780|CDK11B|protein_coding|CODING|NM_033486.2|4|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val63Ala/c.188T>C|746|CDK11B|protein_coding|CODING|NM_033489.2|5|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val97Ala/c.290T>C|770|CDK11B|protein_coding|CODING|NM_001291345.1|4|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val97Ala/c.290T>C|770|CDK11A|protein_coding|CODING|NM_033529.2|4|1),5_prime_UTR_variant(MODIFIER||73484|c.-213T>C|526|CDK11B|protein_coding|CODING|NM_033487.2|4|1),5_prime_UTR_variant(MODIFIER||72983|c.-219T>C|565|CDK11B|protein_coding|CODING|NM_033490.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,,,,,,,,0.106590(N),1.000(P),"2.16,2.16,2.02,2.02,2.02,2.16,3.64,3.64(T,T,T,T,T,T,T,T)",0.0000(T),0.175,0.676160,5.05,4.12,-0.128000,0.513000,5.802000,0.996000,0.994000,1.000000,9.0812
missense_variant,CDK11B,MISSENSE,NM_001787.2:p.Arg93Trp/c.277C>T,Cgg/Tgg,MODERATE,COSM4142970(1),0.747404,0.7788,rs1059831,0.08(T),"0.013,0.976,0.076,0.988,0.995,0.859,0.991,0.999,0.997,0.9,0.996(B,D,B,D,D,P,D,D,D,P,D)",0.975(L),-0.7680(T),,chr1,1650845,1650845,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg93Trp/c.277C>T|793|CDK11B|protein_coding|CODING|NM_001787.2|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg93Trp/c.277C>T|780|CDK11A|protein_coding|CODING|NM_024011.2|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg93Trp/c.277C>T|780|CDK11B|protein_coding|CODING|NM_033486.2|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg59Trp/c.175C>T|746|CDK11B|protein_coding|CODING|NM_033489.2|5|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg93Trp/c.277C>T|770|CDK11B|protein_coding|CODING|NM_001291345.1|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg93Trp/c.277C>T|770|CDK11A|protein_coding|CODING|NM_033529.2|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||526|CDK11B|protein_coding|CODING|NM_033487.2|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||565|CDK11B|protein_coding|CODING|NM_033490.2|4|1),5_prime_UTR_variant(MODIFIER||73497|c.-226C>T|526|CDK11B|protein_coding|CODING|NM_033487.2|4|1),5_prime_UTR_variant(MODIFIER||72996|c.-232C>T|565|CDK11B|protein_coding|CODING|NM_033490.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.7781,0.879,0.9215,0.45,0.37,0.49,,0.081957(U),0.990(D),"3.3,3.65,3.62,3.62,3.3,3.3,3.3,3.3(T,T,T,T,T,T,T,T)",0.0000(T),0.574,3.297294,5.3,5.3,0.655000,2.462000,6.450000,0.999000,1.000000,1.000000,17.9833
missense_variant,NADK,MISSENSE,NM_001198994.1:p.Asn407Lys/c.1221C>A,aaC/aaA,MODERATE,COSM424509(2),0.249401,0.2837,rs4751,0.45(T),"0.229,0.161,0.161,0.025(B,B,B,B)",1.59(L),-0.9562(T),,chr1,1686040,1686040,G,T,hom,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn262Lys/c.786C>A|446|NADK|protein_coding|CODING|NM_001198993.1|8|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn407Lys/c.1221C>A|591|NADK|protein_coding|CODING|NM_001198994.1|10|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn230Lys/c.690C>A|414|NADK|protein_coding|CODING|NM_001198995.1|6|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn262Lys/c.786C>A|446|NADK|protein_coding|CODING|NM_023018.4|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.2651,0.4115,0.32,0.11,0.42,,0.000005(D),0.867(P),"0.93,0.93,0.93,0.93,0.94(T,T,T,T,T)",0.0000(T),0.099,0.426413,5.84,-1.93,-2.299000,-0.622000,-0.842000,0.000000,0.007000,0.041000,13.1463
missense_variant,TMEM52,MISSENSE,NM_178545.3:p.Met141Thr/c.422T>C,aTg/aCg,MODERATE,COSM3927618(1),0.352037,0.4623,rs28640257,0.52(T),"0.002,0.008(B,B)",0.55(N),-0.9135(T),,chr1,1849529,1849529,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met141Thr/c.422T>C|209|TMEM52|protein_coding|CODING|NM_178545.3|5|1),downstream_gene_variant(MODIFIER||796||181|CALML6|protein_coding|CODING|NM_138705.2||1)","CD4:H2BK5me1,NHEK:H3K27me3,CD4:H3K4me1,IMR90:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1",,,,0.3906,0.5072,0.4901,0.37,0.12,0.50,,0.011934(N),1.000(P),"1.49,1.49(T,T)",0.0000(T),0.05,-0.081358,3.84,0.201,0.459000,0.143000,0.105000,0.849000,0.018000,0.000000,3.3609
stop_lost,KIAA1751,MISSENSE,NM_001080484.1:p.Ter763Glnext*?/c.2287T>C,Tag/Cag,HIGH,,0.797724,0.8591,rs28548017,,,,,,chr1,1887019,1887019,A,G,hom,stop_lost(HIGH|MISSENSE|Tag/Cag|p.Ter763Glnext*?/c.2287T>C|762|KIAA1751|protein_coding|CODING|NM_001080484.1|18|1),IMR90:H3K27me3,,,,0.7791,0.8127,0.8052,0.81,0.78,0.82,,,1.000(P),,,.,-1.191928,1.45,-0.588,-0.355000,-0.644000,-0.638000,0.004000,0.001000,0.000000,5.0902
synonymous_variant,KIAA1751,SILENT,NM_001080484.1:p.Leu145Leu/c.435G>A,ctG/ctA,LOW,,0.438498,0.4335,rs3795280,,,,,,chr1,1916890,1916890,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu145Leu/c.435G>A|762|KIAA1751|protein_coding|CODING|NM_001080484.1|6|1),"K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,K562:DNase1",,,,0.3947,0.2795,0.3082,0.41,0.58,0.33,,,,,,,,,,,,,,,,
synonymous_variant,GABRD,SILENT,NM_000815.4:p.Gly110Gly/c.330T>C,ggT/ggC,LOW,COSM424897(4),0.561302,0.3462,rs2229110,,,,,,chr1,1957037,1957037,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly110Gly/c.330T>C|452|GABRD|protein_coding|CODING|NM_000815.4|4|1),"HSMM:H2AZ,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4448,0.5101,0.6809,0.68,0.73,0.66,,,,,,,,,,,,,,,,
missense_variant,C1orf86,MISSENSE,NM_001282670.1:p.Pro229Ser/c.685C>T,Ccc/Tcc,MODERATE,COSM3750860(5),0.207867,0.0615,rs1058411,0.28(T),0.089(B),,-0.9133(T),,chr1,2125172,2125172,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro126Ser/c.376C>T|195|C1orf86|protein_coding|CODING|NM_001256946.1|3|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro229Ser/c.685C>T|283|C1orf86|protein_coding|CODING|NM_001282670.1|7|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro126Ser/c.376C>T|170|C1orf86|protein_coding|CODING|NM_001282673.1|3|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro126Ser/c.376C>T|180|C1orf86|protein_coding|CODING|NM_182533.2|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile121Ile/c.363C>T|230|C1orf86|protein_coding|CODING|NM_001146310.1|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile80Ile/c.240C>T|189|C1orf86|protein_coding|CODING|NM_001256945.1|2|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile80Ile/c.240C>T|112|C1orf86|protein_coding|CODING|NM_001256947.1|2|1),5_prime_UTR_variant(MODIFIER||7522|c.-702C>T|147|C1orf86|protein_coding|CODING|NM_001282671.1|3|1),5_prime_UTR_variant(MODIFIER||7522|c.-571C>T|147|C1orf86|protein_coding|CODING|NM_001282672.1|3|1),non_coding_exon_variant(MODIFIER|||n.266C>T||C1orf86||CODING|NR_046427.1|2|1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,IMR90:H3K36me3,K562:H3K9ac,HepG2:H3K4me3,NHEK:H3K36me3,H1ESC:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3,HMEC:H3K4me2,K562:H3K4me2",,,,0.1247,0.0836,0.1004,0.20,0.41,0.10,,0.848630(N),1.000(P),"1.19,1.2,1.07(T,T,T)",0.0000(T),.,1.407716,3.09,1.1,0.561000,0.284000,0.374000,0.003000,0.001000,0.001000,3.1153
missense_variant,C1orf86,MISSENSE,NM_001256946.1:p.Arg17Pro/c.50G>C,cGc/cCc,MODERATE,COSM4143309(3),,,rs6662296,,,,-0.9687(T),,chr1,2126139,2126139,C,G,hom,"missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg17Pro/c.50G>C|189|C1orf86|protein_coding|CODING|NM_001256945.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg17Pro/c.50G>C|195|C1orf86|protein_coding|CODING|NM_001256946.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg17Pro/c.50G>C|112|C1orf86|protein_coding|CODING|NM_001256947.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg17Pro/c.50G>C|170|C1orf86|protein_coding|CODING|NM_001282673.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg17Pro/c.50G>C|180|C1orf86|protein_coding|CODING|NM_182533.2|1|1),5_prime_UTR_variant(MODIFIER||8489|c.-1028G>C|147|C1orf86|protein_coding|CODING|NM_001282671.1|1|1),5_prime_UTR_variant(MODIFIER||8489|c.-897G>C|147|C1orf86|protein_coding|CODING|NM_001282672.1|1|1),intron_variant(MODIFIER|||c.186-790G>C|230|C1orf86|protein_coding|CODING|NM_001146310.1|6|1),intron_variant(MODIFIER|||c.372-567G>C|283|C1orf86|protein_coding|CODING|NM_001282670.1|5|1),non_coding_exon_variant(MODIFIER|||n.76G>C||C1orf86||CODING|NR_046427.1|1|1)","K562:ZBTB7A,HepG2:Gabp,K562:Max,K562:Gabp,K562:H3K4me3,K562:Cmyc,HeLa-S3:DNase1,K562:PolII,K562:E2F6,HeLa-S3:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:DNase1,HUVEC:PolII,IMR90:DNase1,HepG2:DNase1,HeLa-S3:H3K4me3,H1ESC:DNase1,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:PolII,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:H3K4me3,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1",,,,,,,,,,,,0.999(P),,0.0972(T),.,-1.474470,2.22,1.25,-0.775000,0.070000,-0.033000,0.021000,0.003000,0.000000,8.0433
synonymous_variant,PEX10,SILENT,NM_153818.1:p.Thr97Thr/c.291A>G,acA/acG,LOW,,0.698882,0.7282,rs2494598,,,,,,chr1,2340200,2340200,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr97Thr/c.291A>G|326|PEX10|protein_coding|CODING|NM_002617.3|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr97Thr/c.291A>G|346|PEX10|protein_coding|CODING|NM_153818.1|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,RCV000117902.2,,0.7014,0.7666,0.7913,0.74,0.60,0.82,,,,,,,,,,,,,,,,
synonymous_variant,PLCH2,SILENT,NM_014638.2:p.Ile843Ile/c.2529C>T,atC/atT,LOW,,0.366613,0.4812,rs2296442,,,,-0.9284(T),,chr1,2430617,2430617,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile843Ile/c.2529C>T|1416|PLCH2|protein_coding|CODING|NM_014638.2|19|1),"NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3344,0.4481,0.4821,0.39,0.22,0.47,,,0.000(P),,0.0000(T),.,0.119174,5.03,-1.71,-0.227000,-0.659000,-1.564000,0.773000,0.965000,0.003000,11.3627
missense_variant,PANK4,MISSENSE,NM_018216.1:p.Ala547Val/c.1640C>T,gCg/gTg,MODERATE,COSM3746888(3),0.225639,0.3046,rs7535528,0.02(D),"0.119,0.098(B,B)",1.585(L),-0.8674(T),,chr1,2444414,2444414,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala547Val/c.1640C>T|773|PANK4|protein_coding|CODING|NM_018216.1|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.2137,0.2983,0.3867,0.27,0.07,0.37,,0.363562(N),1.000(P),"3.19,3.19(T,T)",0.0000(T),0.359,1.822331,5.59,5.59,0.561000,2.635000,3.927000,0.017000,0.008000,0.569000,18.5677
synonymous_variant,PANK4,SILENT,NM_018216.1:p.Lys131Lys/c.393A>G,aaA/aaG,LOW,,0.846046,0.9563,rs2985862,,,,,,chr1,2452569,2452569,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys131Lys/c.393A>G|773|PANK4|protein_coding|CODING|NM_018216.1|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.7904,0.8084,0.7316,0.80,0.90,0.74,,,,,,,,,,,,,,,,
synonymous_variant,MMEL1,SILENT,NM_033467.3:p.Ala14Ala/c.42C>T,gcC/gcT,LOW,COSM3751118(3),0.461462,0.4633,rs4648658,,,,,,chr1,2560882,2560882,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala14Ala/c.42C>T|779|MMEL1|protein_coding|CODING|NM_033467.3|2|1),"HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,H1ESC:H3K4me3",,,,0.4683,0.5101,0.672,0.59,0.37,0.71,,,,,,,,,,,,,,,,
synonymous_variant,MMEL1,SILENT,NM_033467.3:p.Pro7Pro/c.21A>C,ccA/ccC,LOW,COSM3751119(3),0.515775,0.4683,rs4648659,,,,,,chr1,2560903,2560903,T,G,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro7Pro/c.21A>C|779|MMEL1|protein_coding|CODING|NM_033467.3|2|1),"HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,H1ESC:H3K4me3",,,,0.4703,0.5519,0.6909,0.64,0.50,0.72,,,,,,,,,,,,,,,,
synonymous_variant,TTC34,SILENT,NM_001242672.1:p.Leu437Leu/c.1309T>C,Ttg/Ctg,LOW,COSM4143690(1),0.934704,0.9931,rs4648662,,,,,,chr1,2573199,2573199,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu437Leu/c.1309T>C|566|TTC34|protein_coding|CODING|NM_001242672.1|7|1),"HepG2:H3K4me2,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1",,,,0.9202,0.8847,0.8628,,,,,,,,,,,,,,,,,,,
missense_variant,ACTRT2,MISSENSE,NM_080431.4:p.Gly247Arg/c.739G>A,Ggg/Agg,MODERATE,,0.122005,0.1607,rs3795263,0(D),0.996(D),3.5(M),-1.6286(T),,chr1,2938989,2938989,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly247Arg/c.739G>A|377|ACTRT2|protein_coding|CODING|NM_080431.4|1|1),"K562:H3K27me3,HeLa-S3:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.093,0.121,0.2584,0.17,0.05,0.23,,0.000026(D),0.000(P),-4.24(D),0.0041(T),0.282,3.029664,4.85,4.85,0.561000,2.228000,6.582000,0.341000,0.915000,1.000000,11.1701
synonymous_variant,PRDM16,SILENT,NM_022114.3:p.Ser148Ser/c.444C>T,tcC/tcT,LOW,COSM3746938(2),0.340455,0.622,rs2282198,,,,,,chr1,3301721,3301721,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser148Ser/c.444C>T|1276|PRDM16|protein_coding|CODING|NM_022114.3|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser148Ser/c.444C>T|1257|PRDM16|protein_coding|CODING|NM_199454.2|4|1)","K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5409,0.3285,0.2684,0.20,0.08,0.27,,,,,,,,,,,,,,,,
missense_variant,PRDM16,MISSENSE,NM_022114.3:p.Ser533Pro/c.1597T>C,Tcg/Ccg,MODERATE,COSM3751146(1),0.945088,0.998,rs870124,0.53(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.55(N),-0.9552(T),,chr1,3328358,3328358,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser533Pro/c.1597T>C|1276|PRDM16|protein_coding|CODING|NM_022114.3|9|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser533Pro/c.1597T>C|1257|PRDM16|protein_coding|CODING|NM_199454.2|9|1)","K562:H3K27me3,NHEK:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.9642,0.9006,0.8419,0.88,0.97,0.84,,0.005363(N),0.821(P),"3.38,3.4,3.41,3.42,3.42,3.4,3.41,3.35,3.35(T,T,T,T,T,T,T,T,T)",0.0000(T),0.028,-0.285273,5.33,5.33,-0.172000,1.290000,1.977000,0.878000,0.893000,0.373000,14.274
missense_variant,PRDM16,MISSENSE,NM_022114.3:p.Pro633Leu/c.1898C>T,cCt/cTt,MODERATE,COSM4143815(1),0.10603,0.006,rs2493292,0.07(T),"0.016,0.036,0.075,0.016(B,B,B,B)",0(N),-0.9059(T),,chr1,3328659,3328659,C,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro633Leu/c.1898C>T|1276|PRDM16|protein_coding|CODING|NM_022114.3|9|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro633Leu/c.1898C>T|1257|PRDM16|protein_coding|CODING|NM_199454.2|9|1)","K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0593,0.121,0.166,0.15,0.15,0.15,,0.013308(N),0.097(P),"3.54,3.57,3.58,3.58,3.57,3.57,3.58,3.53,3.53(T,T,T,T,T,T,T,T,T)",0.0001(T),0.054,2.871058,5.09,4.18,0.603000,1.153000,4.782000,0.851000,0.921000,1.000000,14.9602
synonymous_variant,ARHGEF16,SILENT,NM_014448.3:p.Pro267Pro/c.801A>G,ccA/ccG,LOW,COSM3751152(1),0.860024,0.8026,rs6424078,,,,,,chr1,3383898,3383898,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro267Pro/c.801A>G|709|ARHGEF16|protein_coding|CODING|NM_014448.3|4|1),"H1ESC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,NHEK:DNase1",,,,0.8885,0.8343,0.9125,0.90,0.87,0.91,,,,,,,,,,,,,,,,
missense_variant,ARHGEF16,MISSENSE,NM_014448.3:p.His370Tyr/c.1108C>T,Cac/Tac,MODERATE,COSM4143831(1),0.684505,0.6746,rs2185639,0.71(T),"0.012,0.021,0.038(B,B,B)",1.355(L),-0.9395(T),,chr1,3389727,3389727,C,T,hom,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His370Tyr/c.1108C>T|709|ARHGEF16|protein_coding|CODING|NM_014448.3|7|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM12878:H3K36me3,NHEK:DNase1",,,,0.865,0.755,0.8638,0.74,0.47,0.87,,0.000014(D),0.000(P),"0.07,0.07,0.07,0.07,0.07,0.07(T,T,T,T,T,T)",0.0000(T),0.255,0.545543,4.37,3.43,0.555000,2.269000,2.105000,0.441000,0.610000,0.842000,7.8106
synonymous_variant,ARHGEF16,SILENT,NM_014448.3:p.Ser497Ser/c.1491T>C,tcT/tcC,LOW,,0.970647,1,rs4638054,,,,,,chr1,3394456,3394456,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser497Ser/c.1491T>C|709|ARHGEF16|protein_coding|CODING|NM_014448.3|11|1),"H1ESC:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9959,0.9928,0.998,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ARHGEF16,SILENT,NM_014448.3:p.Val559Val/c.1677G>A,gtG/gtA,LOW,COSM4143834(1),0.686102,0.6766,rs10797395,,,,,,chr1,3395039,3395039,G,A,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val559Val/c.1677G>A|709|ARHGEF16|protein_coding|CODING|NM_014448.3|12|1),"H1ESC:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.863,0.7637,0.8628,0.73,0.47,0.87,,,,,,,,,,,,,,,,
missense_variant,MEGF6,MISSENSE,NM_001409.3:p.Gly1137Ala/c.3410G>C,gGc/gCc,MODERATE,COSM3751159(2),0.24401,0.1865,rs4648506,0.03(D),"0.902,0.841(P,P)",3.23(M),-1.0911(T),,chr1,3413868,3413868,C,G,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly1137Ala/c.3410G>C|1541|MEGF6|protein_coding|CODING|NM_001409.3|27|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2924,0.3357,0.3201,0.22,0.13,0.27,,0.000200(N),0.899(P),"-0.09,-0.61(T,T)",0.0000(T),0.161,1.903437,4.36,0.0897,0.561000,-0.064000,0.253000,0.135000,0.000000,0.002000,6.2955
missense_variant,MEGF6,MISSENSE,NM_001409.3:p.Arg916Leu/c.2747G>T,cGg/cTg,MODERATE,COSM3751160(2),0.568291,0.4355,rs7553399,0.61(T),"0.098,0.041(B,B)",1.465(L),-0.9764(T),,chr1,3416449,3416449,C,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg916Leu/c.2747G>T|1541|MEGF6|protein_coding|CODING|NM_001409.3|22|1),"H1ESC:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.7935,0.6556,0.7515,0.64,0.41,0.75,,0.683155(N),1.000(P),"-0.28,-0.28(T,T)",0.0000(T),0.355,1.265674,5.22,-4.22,0.561000,-1.012000,-1.621000,0.688000,0.000000,0.000000,10.1619
synonymous_variant,MEGF6,SILENT,NM_001409.3:p.Pro761Pro/c.2283G>A,ccG/ccA,LOW,COSM1342028(3),0.286142,0.3056,rs4648508,,,,,,chr1,3418391,3418391,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro761Pro/c.2283G>A|1541|MEGF6|protein_coding|CODING|NM_001409.3|18|1),"H1ESC:H3K36me3,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.3415,0.2882,0.336,0.27,0.19,0.31,,,,,,,,,,,,,,,,
missense_variant,MEGF6,MISSENSE,NM_001409.3:p.Ser131Gly/c.391A>G,Agc/Ggc,MODERATE,COSM1162425(1),0.852835,0.7054,rs2794340,0.7(T),0.0(B),0.53(N),-0.9506(T),,chr1,3496479,3496479,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser131Gly/c.391A>G|1541|MEGF6|protein_coding|CODING|NM_001409.3|4|1),"H1ESC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8906,0.8919,0.9155,0.90,0.88,0.92,,0.013754(N),0.954(P),-2.92(D),0.0000(T),0.023,-1.894905,4.35,4.35,-0.338000,0.847000,0.213000,0.002000,0.008000,0.000000,8.4943
missense_variant,MEGF6,MISSENSE,NM_001409.3:p.Met115Thr/c.344T>C,aTg/aCg,MODERATE,,0.227236,0.3323,rs7513275,0.92(T),0.0(B),-0.205(N),-1.1011(T),,chr1,3511934,3511934,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met115Thr/c.344T>C|1541|MEGF6|protein_coding|CODING|NM_001409.3|3|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2147,0.1859,0.1451,0.16,0.19,0.14,,0.701808(N),0.000(P),-1.75(D),0.0000(T),0.051,-1.711408,3.92,-0.333,-0.334000,-0.170000,0.713000,0.014000,0.891000,0.999000,2.1498
synonymous_variant,TPRG1L,SILENT,NM_182752.3:p.Gly198Gly/c.594C>T,ggC/ggT,LOW,COSM3746946(1),0.0141773,0,rs113982697,,,,,,chr1,3544187,3544187,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly198Gly/c.594C>T|272|TPRG1L|protein_coding|CODING|NM_182752.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.013,0.0417,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,WRAP73,SILENT,NM_017818.3:p.Ala378Ala/c.1134A>G,gcA/gcG,LOW,,0.90615,0.995,rs2760321,,,,,,chr1,3548136,3548136,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala378Ala/c.1134A>G|460|WRAP73|protein_coding|CODING|NM_017818.3|11|1),downstream_gene_variant(MODIFIER||1442||272|TPRG1L|protein_coding|CODING|NM_182752.3||1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.9479,0.8458,0.836,0.85,0.88,0.84,,,,,,,,,,,,,,,,
synonymous_variant,TP73,SILENT,NM_005427.3:p.Thr173Thr/c.519C>T,acC/acT,LOW,COSM3997496(1),0.736022,0.5268,rs1801174,,,,,,chr1,3638674,3638674,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr124Thr/c.372C>T|587|TP73|protein_coding|CODING|NM_001126240.2|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr124Thr/c.372C>T|450|TP73|protein_coding|CODING|NM_001126241.2|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr124Thr/c.372C>T|426|TP73|protein_coding|CODING|NM_001126242.2|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr173Thr/c.519C>T|499|TP73|protein_coding|CODING|NM_001204184.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr173Thr/c.519C>T|475|TP73|protein_coding|CODING|NM_001204185.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr173Thr/c.519C>T|403|TP73|protein_coding|CODING|NM_001204186.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr173Thr/c.519C>T|555|TP73|protein_coding|CODING|NM_001204187.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr173Thr/c.519C>T|540|TP73|protein_coding|CODING|NM_001204188.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr124Thr/c.372C>T|354|TP73|protein_coding|CODING|NM_001204189.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr124Thr/c.372C>T|506|TP73|protein_coding|CODING|NM_001204190.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr124Thr/c.372C>T|491|TP73|protein_coding|CODING|NM_001204191.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr102Thr/c.306C>T|565|TP73|protein_coding|CODING|NM_001204192.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr173Thr/c.519C>T|636|TP73|protein_coding|CODING|NM_005427.3|5|1)","K562:USF1,K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,GM06990:H3K36me3",,,,0.728,0.7219,0.9135,0.85,0.77,0.89,,,,,,,,,,,,,,,,
synonymous_variant,CCDC27,SILENT,NM_152492.2:p.Pro52Pro/c.156A>G,ccA/ccG,LOW,COSM3751165(1),0.508986,0.2897,rs10797410,,,,,,chr1,3669201,3669201,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro52Pro/c.156A>G|656|CCDC27|protein_coding|CODING|NM_152492.2|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4468,0.4452,0.3996,0.50,0.74,0.37,,,,,,,,,,,,,,,,
missense_variant,CCDC27,MISSENSE,NM_152492.2:p.Gln54Glu/c.160C>G,Cag/Gag,MODERATE,COSM3751166(1),0.387181,0.2897,rs10910021,0.78(T),0.0(B),0.205(N),-0.9125(T),,chr1,3669205,3669205,C,G,hom,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln54Glu/c.160C>G|656|CCDC27|protein_coding|CODING|NM_152492.2|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4458,0.4078,0.3946,0.38,0.39,0.37,,0.650230(N),1.000(P),2.26(T),0.0000(T),0.018,0.337707,3.95,-5.54,-0.829000,-1.647000,-1.374000,0.000000,0.000000,0.000000,7.9089
missense_variant,CCDC27,MISSENSE,NM_152492.2:p.Met267Thr/c.800T>C,aTg/aCg,MODERATE,,0.476038,0.2788,rs1181883,0.49(T),0.0(B),0(N),-1.0148(T),,chr1,3677933,3677933,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met267Thr/c.800T>C|656|CCDC27|protein_coding|CODING|NM_152492.2|5|1),"HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.4315,0.4683,0.4354,0.47,0.62,0.39,,0.160777(N),1.000(P),2.31(T),0.0000(T),0.007,-1.378822,3.75,-1.31,-3.293000,-0.433000,-0.489000,0.018000,0.345000,0.039000,0.0397
missense_variant,CCDC27,MISSENSE,NM_152492.2:p.Thr353Met/c.1058C>T,aCg/aTg,MODERATE,COSM3746951(2),0.148562,0.003,rs10910024,0.15(T),0.007(B),0(N),-1.0049(T),,chr1,3679775,3679775,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr353Met/c.1058C>T|656|CCDC27|protein_coding|CODING|NM_152492.2|7|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1677,0.2738,0.2435,0.20,0.13,0.24,,0.000301(N),1.000(P),2.18(T),0.0000(T),0.054,0.359090,2.93,-5.07,-1.406000,-1.283000,-4.171000,0.000000,0.000000,0.000000,1.2646
missense_variant,CEP104,MISSENSE,NM_014704.3:p.Leu414Ile/c.1240T>A,Tta/Ata,MODERATE,COSM3746952(2),0.302716,0.3383,rs2275824,0.3(T),"0.018,0.008(B,B)",0(N),-0.8981(T),,chr1,3753136,3753136,A,T,het,missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu414Ile/c.1240T>A|925|CEP104|protein_coding|CODING|NM_014704.3|10|1),"NH-A:DNase1,H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.487,0.4284,0.33,0.12,0.43,,0.863386(N),1.000(P),"2.35,2.35(T,T)",0.0000(T),0.2,2.178767,5.68,-3.25,0.528000,-0.328000,-0.281000,0.010000,0.000000,0.000000,2.5751
synonymous_variant,CEP104,SILENT,NM_014704.3:p.Glu248Glu/c.744A>G,gaA/gaG,LOW,,0.789537,0.4792,rs1891941,,,,,,chr1,3755675,3755675,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu248Glu/c.744A>G|925|CEP104|protein_coding|CODING|NM_014704.3|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7178,0.8689,0.9443,0.94,0.91,0.95,,,,,,,,,,,,,,,,
synonymous_variant,CEP104,SILENT,NM_014704.3:p.Thr186Thr/c.558G>A,acG/acA,LOW,COSM3997506(2),0.349441,0.3383,rs2275822,,,,,,chr1,3761479,3761479,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr186Thr/c.558G>A|925|CEP104|protein_coding|CODING|NM_014704.3|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.4928,0.4294,0.38,0.26,0.43,,,,,,,,,,,,,,,,
synonymous_variant,DFFB,SILENT,NM_001282669.1:p.Thr201Thr/c.603G>A,acG/acA,LOW,COSM4143881(1),0.214257,0.1349,rs1141070,,,,,,chr1,3786189,3786189,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr201Thr/c.603G>A|362|DFFB|protein_coding|CODING|NM_001282669.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr177Thr/c.531G>A|338|DFFB|protein_coding|CODING|NM_004402.3|5|1),non_coding_exon_variant(MODIFIER|||n.1005G>A||DFFB||CODING|NR_104222.1|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.2277,0.3459,0.31,0.18,0.37,,,,,,,,,,,,,,,,
synonymous_variant,DFFB,SILENT,NM_001282669.1:p.Pro342Pro/c.1026A>G,ccA/ccG,LOW,COSM4143882(3),0.355831,0.3482,rs3205087,,,,,,chr1,3800242,3800242,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro342Pro/c.1026A>G|362|DFFB|protein_coding|CODING|NM_001282669.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro318Pro/c.954A>G|338|DFFB|protein_coding|CODING|NM_004402.3|7|1),non_coding_exon_variant(MODIFIER|||n.1428A>G||DFFB||CODING|NR_104222.1|8|1)","IMR90:H3K36me3,CD4:DNase1,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.3875,0.3256,0.4105,0.41,0.34,0.45,,,,,,,,,,,,,,,,
missense_variant,C1orf174,MISSENSE,NM_207356.2:p.Thr53Arg/c.158C>G,aCg/aGg,MODERATE,,0.997804,0.999,rs4274008,1(T),0.0(B),-1.895(N),-1.0009(T),,chr1,3807593,3807593,G,C,hom,missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr53Arg/c.158C>G|243|C1orf174|protein_coding|CODING|NM_207356.2|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:DNase1,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9986,0.993,0.99,1.00,0.99,,0.000032(N),1.000(P),3.42(T),0.0000(T),0.071,-1.992776,5.27,4.36,-0.357000,0.620000,0.103000,0.221000,0.056000,0.344000,5.5498
synonymous_variant,AJAP1,SILENT,NM_001042478.1:p.Cys41Cys/c.123T>C,tgT/tgC,LOW,COSM426406(3),0.526757,0.6567,rs1061968,,,,,,chr1,4772053,4772053,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys41Cys/c.123T>C|411|AJAP1|protein_coding|CODING|NM_001042478.1|2|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys41Cys/c.123T>C|411|AJAP1|protein_coding|CODING|NM_018836.3|2|1)","K562:H3K27me3,NHEK:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.5828,0.5014,0.3668,0.41,0.51,0.36,,,,,,,,,,,,,,,,
missense_variant,AJAP1,MISSENSE,NM_001042478.1:p.Gly263Arg/c.787G>A,Ggg/Agg,MODERATE,,0.360823,0.2728,rs242056,0.32(T),0.892(P),0.55(N),-1.0120(T),,chr1,4772717,4772717,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly263Arg/c.787G>A|411|AJAP1|protein_coding|CODING|NM_001042478.1|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly263Arg/c.787G>A|411|AJAP1|protein_coding|CODING|NM_018836.3|2|1)","K562:H3K27me3,NHEK:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.4131,0.3761,0.6431,0.52,0.25,0.67,,0.003703(N),0.829(P),"0.9,0.9(T,T)",0.0000(T),0.13,1.268191,4.76,4.76,0.467000,2.179000,3.781000,0.038000,0.012000,0.858000,13.2654
synonymous_variant,NPHP4,SILENT,NM_015102.4:p.Gly1081Gly/c.3243G>C,ggG/ggC,LOW,COSM3747036(1),0.00898562,0,rs41280800,,,,,,chr1,5933384,5933384,C,G,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly568Gly/c.1704G>C|913|NPHP4|protein_coding|CODING|NM_001291593.1|20|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly569Gly/c.1707G>C|914|NPHP4|protein_coding|CODING|NM_001291594.1|19|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1081Gly/c.3243G>C|1426|NPHP4|protein_coding|CODING|NM_015102.4|23|1),non_coding_exon_variant(MODIFIER|||n.4058G>C||NPHP4||CODING|NR_111987.1|26|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,RCV000081714.1,,0,0.013,0.0288,0.02,0.01,0.03,,,,,,,,,,,,,,,,
splice_acceptor_variant,NPHP4,protein_coding,NM_015102.4:c.2818T>A,,HIGH,COSM3751327(4),0.843251,0.7907,rs1287637,,,,,NPHP4:0.75(4);,chr1,5935162,5935162,A,T,hom,"splice_acceptor_variant(HIGH|||c.1279T>A|913|NPHP4|protein_coding|CODING|NM_001291593.1|18|1),splice_acceptor_variant(HIGH|||c.1282T>A|914|NPHP4|protein_coding|CODING|NM_001291594.1|17|1),splice_acceptor_variant(HIGH|||c.2818T>A|1426|NPHP4|protein_coding|CODING|NM_015102.4|21|1),splice_acceptor_variant(HIGH|||n.3633T>A||NPHP4||CODING|NR_111987.1|24|1),intron_variant(MODIFIER|||n.3633-2T>A||NPHP4||CODING|NR_111987.1|23|1),intron_variant(MODIFIER|||c.1279-2T>A|913|NPHP4|protein_coding|CODING|NM_001291593.1|17|1),intron_variant(MODIFIER|||c.1282-2T>A|914|NPHP4|protein_coding|CODING|NM_001291594.1|16|1),intron_variant(MODIFIER|||c.2818-2T>A|1426|NPHP4|protein_coding|CODING|NM_015102.4|20|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.8425,0.8401,0.8111,0.84,0.89,0.82,,,0.000(P),,,.,0.905064,4.93,4.93,-0.557000,0.745000,0.452000,0.005000,0.202000,0.036000,6.5729
synonymous_variant,NPHP4,SILENT,NM_015102.4:p.Arg934Arg/c.2802C>T,cgC/cgT,LOW,COSM426517(3),0.453474,0.7341,rs3747992,,,,,,chr1,5937168,5937168,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg421Arg/c.1263C>T|913|NPHP4|protein_coding|CODING|NM_001291593.1|17|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg422Arg/c.1266C>T|914|NPHP4|protein_coding|CODING|NM_001291594.1|16|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg934Arg/c.2802C>T|1426|NPHP4|protein_coding|CODING|NM_015102.4|20|1),non_coding_exon_variant(MODIFIER|||n.3354C>T||NPHP4||CODING|NR_111987.1|21|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,RCV000081712.1,,0.4182,0.4597,0.4225,0.35,0.29,0.38,,,,,,,,,,,,,,,,
synonymous_variant,KCNAB2,SILENT,NM_001199862.1:p.Val130Val/c.390G>A,gtG/gtA,LOW,,0.00299521,0,rs34975389,,,,,,chr1,6145273,6145273,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val97Val/c.291G>A|367|KCNAB2|protein_coding|CODING|NM_001199860.1|7|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val97Val/c.291G>A|367|KCNAB2|protein_coding|CODING|NM_001199861.1|7|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val130Val/c.390G>A|415|KCNAB2|protein_coding|CODING|NM_001199862.1|6|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val30Val/c.90G>A|300|KCNAB2|protein_coding|CODING|NM_001199863.1|5|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val97Val/c.291G>A|367|KCNAB2|protein_coding|CODING|NM_003636.3|7|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val83Val/c.249G>A|353|KCNAB2|protein_coding|CODING|NM_172130.2|6|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.002,0.0101,0.006,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,CHD5,MISSENSE,NM_015557.2:p.Ser1539Pro/c.4615T>C,Tcg/Ccg,MODERATE,COSM4144116(1),0.727636,0.994,rs2843493,0.35(T),"0.0,0.0(B,B)",-0.345(N),-0.9759(T),,chr1,6184092,6184092,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser1539Pro/c.4615T>C|1954|CHD5|protein_coding|CODING|NM_015557.2|31|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8323,0.5994,0.5994,0.59,0.60,0.58,,0.024454(N),1.000(P),"-2.8,2.15(D,T)",0.0000(T),0.022,1.539303,4.29,3.35,-0.282000,0.939000,0.402000,0.572000,0.862000,0.089000,6.1467
synonymous_variant,CHD5,SILENT,NM_015557.2:p.Ile831Ile/c.2493T>C,atT/atC,LOW,,0.517772,0.7996,rs2250358,,,,,,chr1,6196869,6196869,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile831Ile/c.2493T>C|1954|CHD5|protein_coding|CODING|NM_015557.2|16|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.6329,0.4697,0.3946,0.39,0.34,0.41,,,,,,,,,,,,,,,,
synonymous_variant,CHD5,SILENT,NM_015557.2:p.Tyr619Tyr/c.1857C>T,taC/taT,LOW,COSM3751336(2),0.0826677,0.0337,rs17436816,,,,,,chr1,6204161,6204161,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr619Tyr/c.1857C>T|1954|CHD5|protein_coding|CODING|NM_015557.2|12|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0961,0.2089,0.1203,0.09,0.03,0.12,,,,,,,,,,,,,,,,
missense_variant,HES3,MISSENSE,NM_001024598.3:p.Pro96Thr/c.286C>A,Ccc/Acc,MODERATE,COSM3749063(5),0.557907,0.5615,rs61760836,0.64(T),0.017(B),0.345(N),-0.9967(T),,chr1,6305292,6305292,C,A,hom,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro96Thr/c.286C>A|186|HES3|protein_coding|CODING|NM_001024598.3|4|1),"NHEK:CTCF,HSMM:DNase1,NH-A:DNase1,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HMEC:CTCF,HMEC:H3K27me3,K562:E2F6,GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:Sin3Ak20,GM12878:H3K27me3,K562:Rad21,HeLa-S3:Max,CD4:DNase1,CD4:CTCF,K562:CTCF,HeLa-S3:Nrsf,HeLa-S3:Ini1,HepG2:Nrsf,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:Nrsf,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,HepG2:DNase1,HMEC:DNase1,K562:Sin3Ak20,H1ESC:DNase1,H1ESC:Sin3Ak20,K562:Nrsf,HSMM:CTCF,HepG2:H3K27me3,CD4:H4K20me1,GM12878:ELF1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,K562:Srf,GM12878:Nrsf,H1ESC:Rad21,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1,H1ESC:CTCF,HeLa-S3:CTCF,K562:E2F4,GM12878:CTCF,GM12878:Sin3Ak20,GM06990:CTCF,HUVEC:DNase1",,,,0.6217,0.755,0.6849,0.66,0.49,0.74,,,1.000(P),1.57(T),0.0000(T),0.056,-0.367136,3.31,2.4,0.289000,0.982000,1.220000,0.040000,0.207000,0.724000,6.4315
synonymous_variant,HES3,SILENT,NM_001024598.3:p.Ala99Ala/c.297C>A,gcC/gcA,LOW,COSM3749064(5),0.557508,0.5615,rs61760837,,,,,,chr1,6305303,6305303,C,A,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala99Ala/c.297C>A|186|HES3|protein_coding|CODING|NM_001024598.3|4|1),"NHEK:CTCF,HSMM:DNase1,NH-A:DNase1,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HMEC:CTCF,HMEC:H3K27me3,K562:E2F6,GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:Sin3Ak20,GM12878:H3K27me3,K562:Rad21,HeLa-S3:Max,CD4:DNase1,CD4:CTCF,K562:CTCF,HeLa-S3:Nrsf,HeLa-S3:Ini1,HepG2:Nrsf,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:Nrsf,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,HepG2:DNase1,HMEC:DNase1,K562:Sin3Ak20,H1ESC:DNase1,H1ESC:Sin3Ak20,K562:Nrsf,HSMM:CTCF,HepG2:H3K27me3,CD4:H4K20me1,GM12878:ELF1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,K562:Srf,GM12878:Nrsf,H1ESC:Rad21,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1,H1ESC:CTCF,HeLa-S3:CTCF,K562:E2F4,GM12878:CTCF,GM12878:Sin3Ak20,GM06990:CTCF,HUVEC:DNase1",,,,0.6217,0.7536,0.6839,0.68,0.51,0.76,,,,,,,,,,,,,,,,
missense_variant,GPR153,MISSENSE,NM_207370.2:p.Arg209His/c.626G>A,cGc/cAc,MODERATE,COSM3805738(1),0.699081,0.6131,rs12735670,0.44(T),0.011(B),0.345(N),-1.0089(T),,chr1,6313938,6313938,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg209His/c.626G>A|609|GPR153|protein_coding|CODING|NM_207370.2|3|1),"IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.7035,0.7939,0.7117,,,,,0.002257(N),0.411(P),0.97(T),0.0000(T),0.146,0.245509,4.9,2.03,-0.448000,0.147000,0.366000,0.025000,0.331000,0.995000,7.4677
synonymous_variant,GPR153,SILENT,NM_207370.2:p.Thr48Thr/c.144A>G,acA/acG,LOW,COSM4144138(2),0.73143,0.6181,rs11590458,,,,,,chr1,6314822,6314822,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr48Thr/c.144A>G|609|GPR153|protein_coding|CODING|NM_207370.2|2|1),"IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.7137,0.8012,0.7127,0.73,0.79,0.70,,,,,,,,,,,,,,,,
missense_variant,HES2,MISSENSE,NM_019089.4:p.Pro139Ser/c.415C>T,Ccg/Tcg,MODERATE,COSM4144144(1),0.0780751,0.13,rs2235687,0.31(T),0.002(B),0(N),-1.0991(T),,chr1,6479040,6479040,G,A,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro139Ser/c.415C>T|173|HES2|protein_coding|CODING|NM_019089.4|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K4me3,K562:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,CD4:H4K20me1,HMEC:H3K4me2,HMEC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1",,,,0.0297,0.0346,0.0239,,,,,0.002254(N),1.000(P),0.31(T),0.0004(T),0.068,1.869614,3.36,0.264,0.462000,0.071000,0.444000,0.036000,0.000000,0.013000,6.1626
synonymous_variant,ESPN,SILENT,NM_031475.2:p.Ser234Ser/c.702C>G,tcC/tcG,LOW,COSM3985192(1),,,rs367944375,,,,,,chr1,6500712,6500712,C,G,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser234Ser/c.702C>G|854|ESPN|protein_coding|CODING|NM_031475.2|4|1),"NHEK:CTCF,K562:H3K4me3,HeLa-S3:DNase1,HMEC:CTCF,K562:E2F6,H1ESC:H3K9ac,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,HepG2:H3K4me3,CD4:DNase1,K562:CTCF,HepG2:CTCF,IMR90:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,HepG2:DNase1,HMEC:DNase1,H1ESC:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1,H1ESC:CTCF,HUVEC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ESPN,SILENT,NM_031475.2:p.Arg303Arg/c.909C>G,cgC/cgG,LOW,COSM4144145(1),0.182109,0.1647,rs2311045,,,,,,chr1,6501044,6501044,C,G,het,synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg303Arg/c.909C>G|854|ESPN|protein_coding|CODING|NM_031475.2|5|1),"K562:ZBTB7A,NHEK:CTCF,HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,K562:CTCF,HepG2:CTCF,IMR90:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1,H1ESC:CTCF,GM12878:CTCF",,,,0.1759,0.1167,0.1223,0.16,0.24,0.12,,,,,,,,,,,,,,,,
missense_variant,NOL9,MISSENSE,NM_024654.4:p.Ser58Ala/c.172T>G,Tcc/Gcc,MODERATE,COSM3749066(5),0.95627,0.9692,rs6693391,1(T),0.0(B),-0.805(N),-0.9690(T),,chr1,6614391,6614391,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser58Ala/c.172T>G|702|NOL9|protein_coding|CODING|NM_024654.4|1|1),upstream_gene_variant(MODIFIER||947||841|TAS1R1|protein_coding|CODING|NM_138697.3||1),upstream_gene_variant(MODIFIER||947||587|TAS1R1|protein_coding|CODING|NM_177540.2||1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NH-A:H3K4me3,NH-A:DNase1,CD4:H2AZ,HeLa-S3:Cmyc,NH-A:H3K27ac,K562:Max,K562:H3K4me3,HSMM:H3K9ac,K562:Cmyc,HeLa-S3:DNase1,GM12878:Pax5,K562:E2F6,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HeLa-S3:Ap2alpha,GM12878:TAF1,HeLa-S3:H3K27ac,HUVEC:H3K4me3,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,CD4:CTCF,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,HepG2:TAF1,GM12878:H3K79me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:H3K27me3,K562:HEY1,HMEC:H3K27ac,HepG2:PolII,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,GM12878:Yy1,IMR90:H3K4me3,H1ESC:H3K4me3,GM12878:Tcf12,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,GM12878:CTCF,K562:E2F4,GM12878:Sin3Ak20,HUVEC:DNase1",,,,0.9969,0.9841,0.995,0.96,0.89,0.99,,0.099972(N),1.000(P),2.4(T),0.0000(T),0.038,-0.910621,4.0,3.05,-0.285000,0.422000,0.592000,0.044000,0.220000,0.795000,8.8998
missense_variant,NOL9,MISSENSE,NM_024654.4:p.Trp50Arg/c.148T>C,Tgg/Cgg,MODERATE,COSM3749067(3),0.979832,1,rs6693400,1(T),0.0(B),-0.805(N),-0.9636(T),,chr1,6614415,6614415,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp50Arg/c.148T>C|702|NOL9|protein_coding|CODING|NM_024654.4|1|1),upstream_gene_variant(MODIFIER||923||841|TAS1R1|protein_coding|CODING|NM_138697.3||1),upstream_gene_variant(MODIFIER||923||587|TAS1R1|protein_coding|CODING|NM_177540.2||1)","K562:ZBTB7A,HepG2:ZBTB33,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NH-A:H3K4me3,NH-A:DNase1,CD4:H2AZ,HeLa-S3:Cmyc,NH-A:H3K27ac,K562:Max,K562:H3K4me3,GM12878:ZBTB33,HSMM:H3K9ac,K562:Cmyc,HeLa-S3:DNase1,GM12878:Pax5,K562:E2F6,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HeLa-S3:Ap2alpha,GM12878:TAF1,HeLa-S3:H3K27ac,HUVEC:H3K4me3,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,CD4:CTCF,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,HepG2:TAF1,GM12878:H3K79me2,K562:H3K79me2,IMR90:DNase1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HMEC:H3K27ac,HepG2:PolII,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,GM12878:Yy1,IMR90:H3K4me3,H1ESC:H3K4me3,GM12878:Tcf12,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,GM12878:CTCF,K562:E2F4,GM12878:Sin3Ak20,HUVEC:DNase1",,,,1,0.9914,1,0.97,0.92,1.00,,0.030874(N),1.000(P),2.5(T),0.0000(T),0.157,-0.889729,4.0,4.0,-0.282000,1.042000,0.756000,0.033000,0.806000,0.793000,7.9426
missense_variant,NOL9,MISSENSE,NM_024654.4:p.Arg10Trp/c.28C>T,Cgg/Tgg,MODERATE,COSM3751365(2),0.722244,0.7927,rs4908923,0(D),0.925(D),0.805(L),-1.0901(T),,chr1,6614535,6614535,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg10Trp/c.28C>T|702|NOL9|protein_coding|CODING|NM_024654.4|1|1),upstream_gene_variant(MODIFIER||803||841|TAS1R1|protein_coding|CODING|NM_138697.3||1),upstream_gene_variant(MODIFIER||803||587|TAS1R1|protein_coding|CODING|NM_177540.2||1)","K562:ZBTB7A,HepG2:ZBTB33,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,CD4:H2AZ,CD4:CBP,HeLa-S3:Cmyc,NH-A:H3K27ac,K562:Max,K562:H3K4me3,GM12878:ZBTB33,HSMM:H3K9ac,K562:Cmyc,HeLa-S3:DNase1,K562:CTCFL,HMEC:CTCF,GM12878:Pax5,K562:E2F6,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,NH-A:CTCF,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HeLa-S3:Ap2alpha,GM12878:TAF1,HeLa-S3:H3K27ac,HUVEC:H3K4me3,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,K562:Yy1,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,CD4:CTCF,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,HepG2:TAF1,GM12878:H3K79me2,K562:H3K79me2,IMR90:DNase1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HMEC:H3K27ac,GM12878:BCLAF1,HepG2:PolII,HepG2:Yy1,GM12878:ELF1,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,GM12878:Yy1,H1ESC:Rad21,IMR90:H3K4me3,H1ESC:H3K4me3,GM12878:Tcf12,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,H1ESC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF,HUVEC:DNase1",,,,0.818,0.8473,0.8608,0.79,0.57,0.89,,0.091646(N),1.000(P),1.96(T),0.0000(T),0.238,3.544878,4.22,2.15,0.561000,1.112000,0.459000,0.006000,0.211000,0.003000,6.7366
missense_variant,TAS1R1,MISSENSE,NM_138697.3:p.Lys347Glu/c.1039A>G,Aag/Gag,MODERATE,COSM4144162(1),0.923323,1,rs10864628,1(T),"0.028,0.021(B,B)",0(N),-0.9711(T),,chr1,6635231,6635231,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys347Glu/c.1039A>G|841|TAS1R1|protein_coding|CODING|NM_138697.3|3|1),intron_variant(MODIFIER|||c.499-1244A>G|587|TAS1R1|protein_coding|CODING|NM_177540.2|2|1)",H1ESC:H3K27me3,,,,0.9959,0.9841,0.999,0.92,0.76,1.00,,0.834398(N),1.000(P),"-2.1,-2.1(D,D)",0.0000(T),0.285,-1.577061,5.4,-0.461,-0.119000,-0.214000,0.442000,0.004000,0.000000,0.000000,6.901
missense_variant,TAS1R1,MISSENSE,NM_138697.3:p.Ala372Thr/c.1114G>A,Gca/Aca,MODERATE,COSM1343925(2),0.135383,0.3204,rs34160967,0.73(T),"0.076,0.094(B,B)",1.03(L),-0.9411(T),,chr1,6635306,6635306,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala372Thr/c.1114G>A|841|TAS1R1|protein_coding|CODING|NM_138697.3|3|1),intron_variant(MODIFIER|||c.499-1169G>A|587|TAS1R1|protein_coding|CODING|NM_177540.2|2|1)",H1ESC:H3K27me3,,,,0.1125,0.0648,0.1223,0.11,0.07,0.13,,0.362231(N),1.000(P),"-2.43,-2.81(D,D)",0.0000(T),0.242,-0.616607,5.24,-0.638,-0.218000,0.160000,-0.147000,0.010000,0.000000,0.000000,4.9085
synonymous_variant,KLHL21,SILENT,NM_014851.2:p.Ser343Ser/c.1029C>T,tcC/tcT,LOW,COSM426608(2),0.347444,0.38,rs2232460,,,,,,chr1,6659505,6659505,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser343Ser/c.1029C>T|597|KLHL21|protein_coding|CODING|NM_014851.2|2|1),"NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,HMEC:CTCF,HeLa-S3:H3K79me2,NHEK:H3K4me3,GM12878:H3K4me3,CD4:H3K4me1,NHEK:PolII,CD4:DNase1,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,GM12878:H3K79me2,K562:H3K79me2,HSMM:H3K36me3,HMEC:DNase1,HSMM:H3K4me3,CD4:H4K20me1,GM06990:H3K36me3,HMEC:H3K4me2,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.4785,0.3127,0.3171,0.31,0.27,0.34,,,,,,,,,,,,,,,,
missense_variant,THAP3,MISSENSE,NM_001195753.1:p.Gln227Arg/c.680A>G,cAg/cGg,MODERATE,,0.370407,0.3889,rs3174820,0.83(T),"0.0,0.0(B,B)",-0.695(N),-0.9340(T),,chr1,6693097,6693097,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln226Arg/c.677A>G|238|THAP3|protein_coding|CODING|NM_001195752.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln227Arg/c.680A>G|239|THAP3|protein_coding|CODING|NM_001195753.1|6|1),downstream_gene_variant(MODIFIER||1131||559|DNAJC11|protein_coding|CODING|NM_018198.3||1),intron_variant(MODIFIER|||c.459+542A>G|175|THAP3|protein_coding|CODING|NM_138350.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4939,0.3429,0.332,0.33,0.31,0.34,,0.000020(N),1.000(P),"-3.4,-3.4(D,D)",0.0000(T),0.022,-1.510745,3.75,-7.5,-0.414000,-3.278000,-2.490000,0.005000,0.000000,0.000000,1.2862
synonymous_variant,DNAJC11,SILENT,NM_018198.3:p.Gly360Gly/c.1080T>C,ggT/ggC,LOW,COSM3747064(1),0.833067,0.5704,rs200458,,,,,,chr1,6704635,6704635,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly360Gly/c.1080T>C|559|DNAJC11|protein_coding|CODING|NM_018198.3|10|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.8712,0.9625,0.9245,0.90,0.88,0.91,,,,,,,,,,,,,,,,
missense_variant,CAMTA1,MISSENSE,NM_001242701.1:p.Leu80Phe/c.238C>T,Ctc/Ttc,MODERATE,,0.208267,0.2956,rs3810982,,,0.345(N),-0.9517(T),,chr1,6947717,6947717,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu80Phe/c.238C>T|101|CAMTA1|protein_coding|CODING|NM_001242701.1|4|1),intron_variant(MODIFIER|||c.234+62447C>T|1673|CAMTA1|protein_coding|CODING|NM_015215.3|3|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CAMTA1||CODING|NR_038934.1|4|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.1167,0.1859,,,,,,0.000(P),,0.0000(T),0.22,2.457705,5.22,3.21,0.650000,1.431000,0.343000,0.999000,1.000000,1.000000,5.7983
synonymous_variant,CAMTA1,SILENT,NM_015215.3:p.Asn327Asn/c.981C>T,aaC/aaT,LOW,,0.0595048,0.0198,rs3737906,,,,,,chr1,7723588,7723588,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn327Asn/c.981C>T|1673|CAMTA1|protein_coding|CODING|NM_015215.3|9|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,RCV000116538.2,,0.0767,0.0735,0.1431,0.10,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,CAMTA1,SILENT,NM_015215.3:p.Ser450Ser/c.1350G>A,tcG/tcA,LOW,COSM3751390(1),0.40016,0.3313,rs12128526,,,,,,chr1,7723957,7723957,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser450Ser/c.1350G>A|1673|CAMTA1|protein_coding|CODING|NM_015215.3|9|1),"K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,RCV000116536.2,,0.4192,0.4539,0.4304,0.43,0.37,0.46,,,,,,,,,,,,,,,,
synonymous_variant,PER3,SILENT,NM_001289862.1:p.Ser446Ser/c.1338T>C,agT/agC,LOW,COSM4144191(1),0.878994,0.7232,rs228669,,,,,,chr1,7870048,7870048,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser446Ser/c.1338T>C|1191|PER3|protein_coding|CODING|NM_001289861.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser446Ser/c.1338T>C|1210|PER3|protein_coding|CODING|NM_001289862.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser446Ser/c.1338T>C|1184|PER3|protein_coding|CODING|NM_001289863.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser127Ser/c.381T>C|890|PER3|protein_coding|CODING|NM_001289864.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser445Ser/c.1335T>C|1201|PER3|protein_coding|CODING|NM_016831.2|12|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.9427,0.7608,0.9324,0.94,0.96,0.93,,,,,,,,,,,,,,,,
synonymous_variant,PER3,SILENT,NM_001289862.1:p.Pro753Pro/c.2259G>A,ccG/ccA,LOW,COSM3747079(1),0.516773,0.8026,rs2859387,,,,,,chr1,7887248,7887248,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro753Pro/c.2259G>A|1191|PER3|protein_coding|CODING|NM_001289861.1|18|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro753Pro/c.2259G>A|1210|PER3|protein_coding|CODING|NM_001289862.1|18|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro746Pro/c.2238G>A|1184|PER3|protein_coding|CODING|NM_001289863.1|18|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro434Pro/c.1302G>A|890|PER3|protein_coding|CODING|NM_001289864.1|18|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro745Pro/c.2235G>A|1201|PER3|protein_coding|CODING|NM_016831.2|18|1)","H1ESC:H3K36me3,K562:Gabp,K562:H3K4me3,IMR90:H3K36me3,K562:E2F6,K562:PolII,K562:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,HUVEC:H3K4me3,K562:Yy1,CD4:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HSMM:H3K4me3,CD4:H3K4me3,K562:H3K4me2,K562:DNase1",,,,0.3896,0.4597,0.3718,0.41,0.51,0.36,,,,,,,,,,,,,,,,
missense_variant,PER3,MISSENSE,NM_001289862.1:p.Leu835Pro/c.2504T>C,cTg/cCg,MODERATE,,0.97524,1,rs228696,1(T),"0.0,0.001,0.0(B,B,B)",0.63(N),-0.9645(T),,chr1,7887493,7887493,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu835Pro/c.2504T>C|1191|PER3|protein_coding|CODING|NM_001289861.1|18|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu835Pro/c.2504T>C|1210|PER3|protein_coding|CODING|NM_001289862.1|18|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu828Pro/c.2483T>C|1184|PER3|protein_coding|CODING|NM_001289863.1|18|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu516Pro/c.1547T>C|890|PER3|protein_coding|CODING|NM_001289864.1|18|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu827Pro/c.2480T>C|1201|PER3|protein_coding|CODING|NM_016831.2|18|1)","H1ESC:H3K36me3,K562:Gabp,K562:H3K4me3,IMR90:H3K36me3,K562:E2F6,K562:PolII,K562:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,K562:ELF1,CD4:H4K91ac,K562:Yy1,CD4:DNase1,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,HMEC:H3K36me3,CD4:H2BK120ac,HSMM:H3K4me3,K562:HEY1,K562:H3K4me2,K562:H2AZ,K562:DNase1",,,,0.9806,0.9654,0.9513,0.96,0.97,0.95,,0.738042(N),1.000(P),"2.88,2.89(T,T)",0.0000(T),0.098,0.328617,3.21,2.16,-0.227000,0.554000,0.873000,0.002000,0.001000,0.001000,6.9788
synonymous_variant,PER3,SILENT,NM_001289862.1:p.Thr978Thr/c.2934C>T,acC/acT,LOW,COSM3751395(2),0.304313,0.4851,rs2640908,,,,,,chr1,7889941,7889941,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr978Thr/c.2934C>T|1210|PER3|protein_coding|CODING|NM_001289862.1|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr977Thr/c.2931C>T|1191|PER3|protein_coding|CODING|NM_001289861.1|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr970Thr/c.2910C>T|1184|PER3|protein_coding|CODING|NM_001289863.1|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr658Thr/c.1974C>T|890|PER3|protein_coding|CODING|NM_001289864.1|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr969Thr/c.2907C>T|1201|PER3|protein_coding|CODING|NM_016831.2|19|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HMEC:H3K36me3",,,,0.3149,0.1599,0.1978,0.23,0.30,0.19,,,,,,,,,,,,,,,,
splice_acceptor_variant,PER3,protein_coding,NM_001289861.1:c.3002A>G,,HIGH,COSM3747080(3),0.244808,0.1478,rs12023156,,,,,PER3:0.40(5);,chr1,7890064,7890064,A,G,het,"splice_acceptor_variant(HIGH|||c.3002A>G|1191|PER3|protein_coding|CODING|NM_001289861.1|20|1),splice_acceptor_variant(HIGH|||c.2981A>G|1184|PER3|protein_coding|CODING|NM_001289863.1|20|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1019Thr/c.3057A>G|1210|PER3|protein_coding|CODING|NM_001289862.1|19|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr699Thr/c.2097A>G|890|PER3|protein_coding|CODING|NM_001289864.1|19|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1010Thr/c.3030A>G|1201|PER3|protein_coding|CODING|NM_016831.2|19|1),intron_variant(MODIFIER|||c.3002-2A>G|1191|PER3|protein_coding|CODING|NM_001289861.1|19|1),intron_variant(MODIFIER|||c.2981-2A>G|1184|PER3|protein_coding|CODING|NM_001289863.1|19|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HMEC:H3K36me3",,,,0.3292,0.2118,0.2863,,,,,,1.000(P),,,.,-0.461664,0.119,0.119,0.232000,0.235000,0.651000,0.063000,0.054000,0.005000,.
missense_variant,UTS2,MISSENSE,NM_021995.2:p.Thr21Met/c.62C>T,aCg/aTg,MODERATE,COSM3751400(2),0.478435,0.3522,rs228648,0.12(T),0.023(B),,-0.9425(T),,chr1,7913430,7913430,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr21Met/c.62C>T|139|UTS2|protein_coding|CODING|NM_021995.2|1|1),upstream_gene_variant(MODIFIER||326||124|UTS2|protein_coding|CODING|NM_006786.3||1)",HUVEC:H3K27me3,,,,0.6339,0.4092,0.5706,0.54,0.47,0.57,,,1.000(P),1.34(T),0.0000(T),0.053,0.439311,4.68,-3.06,0.655000,-0.941000,-0.446000,0.145000,0.000000,0.001000,10.906
synonymous_variant,SLC45A1,SILENT,NM_001080397.2:p.Pro348Pro/c.1044A>G,ccA/ccG,LOW,COSM3749071(5),0.776358,0.8482,rs1058619,,,,,,chr1,8390495,8390495,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro348Pro/c.1044A>G|782|SLC45A1|protein_coding|CODING|NM_001080397.2|5|1),"IMR90:H3K36me3,K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.7924,0.7824,0.7366,0.74,0.75,0.74,,,,,,,,,,,,,,,,
synonymous_variant,SLC45A1,SILENT,NM_001080397.2:p.Pro479Pro/c.1437G>A,ccG/ccA,LOW,COSM4144193(2),0.340455,0.1746,rs2289731,,,,,,chr1,8390888,8390888,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro479Pro/c.1437G>A|782|SLC45A1|protein_coding|CODING|NM_001080397.2|5|1),"IMR90:H3K36me3,K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2975,0.2911,0.325,0.39,0.51,0.32,,,,,,,,,,,,,,,,
missense_variant,SLC45A1,MISSENSE,NM_001080397.2:p.Ala537Ser/c.1609G>T,Gcg/Tcg,MODERATE,COSM3747084(2),0.154353,0.0228,rs7535752,0.76(T),0.001(B),-1.065(N),-1.0394(T),,chr1,8395560,8395560,G,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala537Ser/c.1609G>T|782|SLC45A1|protein_coding|CODING|NM_001080397.2|6|1),"IMR90:H3K36me3,K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.316,0.1859,0.1839,0.16,0.10,0.19,,0.587016(N),1.000(P),"-1.16,-1.16,-1.16(T,T,T)",0.0001(T),0.042,-1.223735,5.09,-10.2,0.561000,-1.967000,-0.306000,0.002000,0.000000,0.000000,13.6969
synonymous_variant,RERE,SILENT,NM_001042681.1:p.Arg1317Arg/c.3951G>T,cgG/cgT,LOW,COSM681943(3),0.797524,0.8978,rs11121172,,,,,,chr1,8418644,8418644,C,A,het,"synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg1317Arg/c.3951G>T|1566|RERE|protein_coding|CODING|NM_001042681.1|20|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg763Arg/c.2289G>T|1012|RERE|protein_coding|CODING|NM_001042682.1|10|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg1317Arg/c.3951G>T|1566|RERE|protein_coding|CODING|NM_012102.3|21|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7495,0.7795,0.669,0.73,0.84,0.68,,,,,,,,,,,,,,,,
synonymous_variant,RERE,SILENT,NM_001042681.1:p.Arg1315Arg/c.3945A>G,cgA/cgG,LOW,COSM3751406(2),0.80012,0.8998,rs1058766,,,,,,chr1,8418650,8418650,T,C,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1315Arg/c.3945A>G|1566|RERE|protein_coding|CODING|NM_001042681.1|20|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg761Arg/c.2283A>G|1012|RERE|protein_coding|CODING|NM_001042682.1|10|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1315Arg/c.3945A>G|1566|RERE|protein_coding|CODING|NM_012102.3|21|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7515,0.7795,0.671,0.73,0.84,0.68,,,,,,,,,,,,,,,,
synonymous_variant,RERE,SILENT,NM_001042681.1:p.Pro788Pro/c.2364A>G,ccA/ccG,LOW,COSM426747(4),0.79992,0.9206,rs13596,,,,,,chr1,8421203,8421203,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro788Pro/c.2364A>G|1566|RERE|protein_coding|CODING|NM_001042681.1|18|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro234Pro/c.702A>G|1012|RERE|protein_coding|CODING|NM_001042682.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro788Pro/c.2364A>G|1566|RERE|protein_coding|CODING|NM_012102.3|19|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.7464,0.7925,0.6819,0.73,0.82,0.68,,,,,,,,,,,,,,,,
synonymous_variant,RERE,SILENT,NM_001042681.1:p.Thr473Thr/c.1419A>G,acA/acG,LOW,,0.248203,0.0575,rs3753275,,,,,,chr1,8425900,8425900,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr473Thr/c.1419A>G|1566|RERE|protein_coding|CODING|NM_001042681.1|13|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr473Thr/c.1419A>G|1566|RERE|protein_coding|CODING|NM_012102.3|14|1),5_prime_UTR_variant(MODIFIER||1707|c.-244A>G|1012|RERE|protein_coding|CODING|NM_001042682.1|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.3119,0.1945,0.1978,0.25,0.36,0.19,,,,,,,,,,,,,,,,
missense_variant,CA6,MISSENSE,NM_001270500.1:p.Ser90Gly/c.268A>G,Agc/Ggc,MODERATE,,0.34385,0.5575,rs2274333,0.13(T),"0.713,0.789(P,P)",2.015(M),-1.0029(T),,chr1,9017204,9017204,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser90Gly/c.268A>G|308|CA6|protein_coding|CODING|NM_001215.3|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser90Gly/c.268A>G|313|CA6|protein_coding|CODING|NM_001270500.1|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser30Gly/c.88A>G|248|CA6|protein_coding|CODING|NM_001270501.1|2|1),intron_variant(MODIFIER|||c.25-1765A>G|180|CA6|protein_coding|CODING|NM_001270502.1|1|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.455,0.3919,0.2913,0.25,0.16,0.30,,0.303668(N),0.999(P),"0.64,-0.3,-0.3,-0.3(T,T,T,T)",0.0000(T),0.346,3.924134,5.22,-0.413,0.455000,-0.257000,0.016000,0.647000,0.042000,0.000000,1.5577
missense_variant,CA6,MISSENSE,NM_001270500.1:p.Gly287Glu/c.860G>A,gGg/gAg,MODERATE,,0.460064,0.6815,rs3765964,0.1(T),,,-0.9469(T),,chr1,9034421,9034421,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly287Glu/c.860G>A|313|CA6|protein_coding|CODING|NM_001270500.1|8|1),intron_variant(MODIFIER|||c.845-260G>A|308|CA6|protein_coding|CODING|NM_001215.3|7|1),intron_variant(MODIFIER|||c.665-260G>A|248|CA6|protein_coding|CODING|NM_001270501.1|6|1),intron_variant(MODIFIER|||c.461-260G>A|180|CA6|protein_coding|CODING|NM_001270502.1|5|1)","HeLa-S3:DNase1,K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5153,0.4265,0.3887,0.35,0.33,0.36,,0.033524(N),1.000(P),-0.32(T),0.0000(T),0.06,-0.145279,.,.,0.000000,-0.429000,0.000000,0.003000,0.000000,0.001000,.
missense_variant,SLC2A7,MISSENSE,NM_207420.2:p.Arg261Gln/c.782G>A,cGg/cAg,MODERATE,COSM1126929(1),0.0950479,0.1696,rs12402973,0.31(T),0.005(B),-0.045(N),-1.0868(T),,chr1,9074861,9074861,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg261Gln/c.782G>A|512|SLC2A7|protein_coding|CODING|NM_207420.2|7|1),"HSMM:DNase1,K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0706,0.1527,0.1123,0.07,0.03,0.10,,0.033329(N),0.997(P),-0.73(T),0.0008(T),0.067,-0.132953,4.12,-2.98,-1.564000,-1.040000,0.018000,0.010000,0.001000,0.129000,12.1855
missense_variant,H6PD,MISSENSE,NM_001282587.1:p.Arg464Gln/c.1391G>A,cGg/cAg,MODERATE,COSM3997704(1),0.389577,0.4812,rs6688832,0.49(T),0.001(B),0.69(N),-0.9892(T),,chr1,9323910,9323910,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg464Gln/c.1391G>A|802|H6PD|protein_coding|CODING|NM_001282587.1|5|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg453Gln/c.1358G>A|791|H6PD|protein_coding|CODING|NM_004285.3|5|1)","IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,RCV000017511.1,,0.3119,0.3732,0.2485,0.31,0.46,0.23,,0.301437(N),1.000(P),-4.83(D),0.0000(T),0.09,-1.188930,5.53,-2.12,-1.197000,-0.530000,-0.091000,0.017000,0.054000,0.001000,4.5195
synonymous_variant,SPSB1,SILENT,NM_025106.3:p.Val67Val/c.201G>A,gtG/gtA,LOW,COSM4144259(1),0.259385,0.2748,rs9435243,,,,,,chr1,9416151,9416151,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val67Val/c.201G>A|273|SPSB1|protein_coding|CODING|NM_025106.3|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,GM06990:H3K36me3",,,,0.2781,0.3401,0.1998,0.23,0.24,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SPSB1,SILENT,NM_025106.3:p.Leu132Leu/c.396C>T,ctC/ctT,LOW,COSM3747118(2),0.197085,0.2798,rs3795309,,,,,,chr1,9416346,9416346,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu132Leu/c.396C>T|273|SPSB1|protein_coding|CODING|NM_025106.3|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,GM06990:H3K36me3",,,,0.183,0.1758,0.3161,0.23,0.10,0.30,,,,,,,,,,,,,,,,
missense_variant,TMEM201,MISSENSE,NM_001130924.2:p.Pro579Leu/c.1736C>T,cCg/cTg,MODERATE,COSM4144263(1),0.671126,0.6468,rs4926472,0.15(T),0.004(B),0(N),-0.9771(T),,chr1,9670834,9670834,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro579Leu/c.1736C>T|666|TMEM201|protein_coding|CODING|NM_001130924.2|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.7249,0.7651,0.8022,0.73,0.56,0.81,,0.492308(N),1.000(P),,0.0000(T),0.195,2.109353,5.19,-10.4,-0.397000,-1.580000,-0.403000,0.002000,0.000000,0.000000,4.4328
missense_variant,PIK3CD,MISSENSE,NM_005026.3:p.Ser312Cys/c.935C>G,tCc/tGc,MODERATE,,0.00778754,0,rs61755420,0.04(D),"0.469,0.0,0.353(P,B,B)",0.345(N),-1.0072(T),,chr1,9777599,9777599,C,G,het,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser312Cys/c.935C>G|1044|PIK3CD|protein_coding|CODING|NM_005026.3|8|1),"K562:USF1,K562:ZBTB7A,H1ESC:H3K36me3,K562:Max,K562:H3K4me3,GM12878:USF1,HepG2:H3K4me2,K562:Cmyc,IMR90:H3K36me3,HMEC:H3K27me3,CD4:H3K18ac,K562:E2F6,K562:PolII,K562:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,HepG2:HNF4A,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K91ac,CD4:DNase1,K562:Nfe2,NHEK:H3K36me3,GM12878:H3K27ac,K562:CTCF,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,GM12878:H3K36me3,CD4:PolII,HepG2:H3K27ac,HepG2:TAF1,HepG2:DNase1,CD4:H2BK120ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,GM12878:DNase1,K562:HEY1,CD4:H3K27ac,GM06990:H3K36me3,HepG2:PolII,GM12878:ELF1,K562:H3K4me2,GM06990:DNase1,HepG2:Cmyc,K562:Cfos,K562:H2AZ,K562:DNase1,HepG2:HEY1,H1ESC:CTCF,K562:E2F4",,,,0.0031,0.0101,0.0288,0.02,0.01,0.03,,0.174133(N),1.000(D),"-0.31,-0.34,-0.31(T,T,T)",0.0601(T),0.163,1.383124,5.44,3.58,-0.742000,0.686000,2.389000,0.239000,0.985000,0.996000,4.7545
synonymous_variant,KIF1B,SILENT,NM_015074.3:p.Ala95Ala/c.285C>G,gcC/gcG,LOW,COSM146390(3),0.230032,0.2887,rs12402052,,,,,,chr1,10318652,10318652,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala95Ala/c.285C>G|1770|KIF1B|protein_coding|CODING|NM_015074.3|4|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala95Ala/c.285C>G|1153|KIF1B|protein_coding|CODING|NM_183416.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3",,RCV000117406.2,,0.2638,0.3199,0.3052,0.23,0.09,0.30,,,,,,,,,,,,,,,,
synonymous_variant,KIF1B,SILENT,NM_015074.3:p.Thr1721Thr/c.5163C>A,acC/acA,LOW,COSM146393(3),0.231629,0.2827,rs11121552,,,,,,chr1,10435324,10435324,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1721Thr/c.5163C>A|1770|KIF1B|protein_coding|CODING|NM_015074.3|46|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,RCV000117408.2,,0.272,0.3199,0.3091,0.23,0.09,0.30,,,,,,,,,,,,,,,,
synonymous_variant,PGD,SILENT,NM_002631.2:p.Asp40Asp/c.120T>C,gaT/gaC,LOW,COSM146394(4),0.233826,0.2817,rs1049887,0(D),,,-0.9948(T),,chr1,10460485,10460485,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp40Asp/c.120T>C|483|PGD|protein_coding|CODING|NM_002631.2|3|1),"NH-A:H3K4me3,HSMM:DNase1,H1ESC:H3K36me3,K562:H3K4me3,HSMM:H3K9ac,HepG2:H3K4me2,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K4me3,IMR90:H3K27ac,K562:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HepG2:H3K4me3,NHEK:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H3K4me2,NHEK:H3K4me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,K562:H3K79me2,IMR90:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me2,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,H1ESC:H3K4me3,IMR90:H3K4me3,GM06990:H3K4me3",,,,0.271,0.3199,0.3111,0.23,0.10,0.30,,,0.000(P),,0.0000(T),.,1.401045,5.18,1.38,0.533000,0.038000,0.528000,0.993000,0.913000,0.999000,5.1933
synonymous_variant,PGD,SILENT,NM_002631.2:p.Asp244Asp/c.732C>T,gaC/gaT,LOW,COSM146395(4),0.335064,0.3403,rs2229687,,,,,,chr1,10473196,10473196,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp244Asp/c.732C>T|483|PGD|protein_coding|CODING|NM_002631.2|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.2853,0.3732,0.338,0.33,0.33,0.33,,,,,,,,,,,,,,,,
synonymous_variant,APITD1-CORT,SILENT,NM_198544.3:p.Ala129Ala/c.387C>T,gcC/gcT,LOW,COSM1332194(2),0.28754,0.4871,rs628462,,,,,,chr1,10511544,10511544,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala108Ala/c.324C>T|143|APITD1-CORT|protein_coding|CODING|NM_001243768.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala70Ala/c.210C>T|105|CORT|protein_coding|CODING|NM_001302.4|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala129Ala/c.387C>T|164|APITD1-CORT|protein_coding|CODING|NM_198544.3|5|1),3_prime_UTR_variant(MODIFIER||9082|c.*147C>T|138|APITD1-CORT|protein_coding|CODING|NM_001270517.1|6|1),3_prime_UTR_variant(MODIFIER||86|c.*86C>T|77|APITD1-CORT|protein_coding|CODING|NM_199006.2|4|1),non_coding_exon_variant(MODIFIER|||n.833C>T||APITD1-CORT||CODING|NR_037187.1|3|1)","NHEK:H3K4me2,H1ESC:DNase1",,,,0.319,0.3112,0.3907,0.29,0.08,0.40,,,,,,,,,,,,,,,,
synonymous_variant,APITD1-CORT,SILENT,NM_198544.3:p.Ser144Ser/c.432T>C,tcT/tcC,LOW,COSM146397(1),0.867612,0.8591,rs666103,,,,,,chr1,10511589,10511589,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser123Ser/c.369T>C|143|APITD1-CORT|protein_coding|CODING|NM_001243768.1|4|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser85Ser/c.255T>C|105|CORT|protein_coding|CODING|NM_001302.4|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser144Ser/c.432T>C|164|APITD1-CORT|protein_coding|CODING|NM_198544.3|5|1),3_prime_UTR_variant(MODIFIER||9127|c.*192T>C|138|APITD1-CORT|protein_coding|CODING|NM_001270517.1|6|1),3_prime_UTR_variant(MODIFIER||131|c.*131T>C|77|APITD1-CORT|protein_coding|CODING|NM_199006.2|4|1),non_coding_exon_variant(MODIFIER|||n.878T>C||APITD1-CORT||CODING|NR_037187.1|3|1)","NHEK:H3K4me2,H1ESC:DNase1",,,,0.8292,0.8213,0.9344,0.93,0.91,0.94,,,,,,,,,,,,,,,,
synonymous_variant,PEX14,SILENT,NM_004565.2:p.Gly344Gly/c.1032G>T,ggG/ggT,LOW,COSM423352(1),0.103634,0.0228,rs11539794,,,,,,chr1,10689942,10689942,G,T,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly344Gly/c.1032G>T|377|PEX14|protein_coding|CODING|NM_004565.2|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,GM06990:H3K36me3,K562:Znf263",,,,0.1861,0.1326,0.1948,0.14,0.05,0.19,,,,,,,,,,,,,,,,
synonymous_variant,C1orf127,SILENT,NM_001170754.1:p.Gly565Gly/c.1695C>G,ggC/ggG,LOW,COSM3747476(4),0.32488,0.2371,rs1281017,,,,-0.9433(T),,chr1,11008497,11008497,G,C,het,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly565Gly/c.1695C>G|823|C1orf127|protein_coding|CODING|NM_001170754.1|12|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4836,0.2867,0.1849,0.23,0.34,0.18,,,1.000(P),,0.0000(T),.,-0.100345,4.61,-5.09,-1.145000,-1.335000,-0.893000,0.006000,0.000000,0.000000,4.3862
synonymous_variant,C1orf127,SILENT,NM_001170754.1:p.Pro499Pro/c.1497A>G,ccA/ccG,LOW,COSM3747478(5),0.211861,0.2321,rs17036032,,,,-0.9531(T),,chr1,11008695,11008695,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro499Pro/c.1497A>G|823|C1orf127|protein_coding|CODING|NM_001170754.1|12|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4468,0.2565,0.1421,0.11,0.06,0.14,,,1.000(P),,0.0000(T),.,0.380333,4.51,-5.45,0.402000,-0.824000,-1.740000,0.016000,0.000000,0.000000,0.2364
missense_variant,C1orf127,MISSENSE,NM_001170754.1:p.Ala353Thr/c.1057G>A,Gcc/Acc,MODERATE,COSM3747481(4),0.219449,0.2331,rs386497238,0.43(T),"0.007,0.007,0.01(B,B,B)",0.345(N),-1.0105(T),,chr1,11014118,11014118,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala353Thr/c.1057G>A|823|C1orf127|protein_coding|CODING|NM_001170754.1|10|1),"K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4294,0.2752,0.164,0.13,0.08,0.15,,0.335928(N),1.000(P),"1.88,1.88(T,T)",0.0000(T),0.277,1.414656,5.07,-9.42,-0.345000,-2.102000,-1.475000,0.391000,0.000000,0.000000,0.8276
missense_variant,C1orf127,MISSENSE,NM_001170754.1:p.Ile286Thr/c.857T>C,aTt/aCt,MODERATE,COSM3747484(3),0.228235,0.2341,rs75130475,0.59(T),"0.086,0.086,0.086(B,B,B)",0.55(N),-1.0052(T),,chr1,11015165,11015165,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile286Thr/c.857T>C|823|C1orf127|protein_coding|CODING|NM_001170754.1|9|1),"K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4294,0.2752,0.164,0.13,0.10,0.15,,0.033671(N),1.000(P),"1.89,1.89(T,T)",0.0000(T),0.503,1.416568,4.94,-6.01,-0.361000,-0.647000,-1.247000,0.092000,0.000000,0.000000,1.0442
synonymous_variant,C1orf127,SILENT,NM_001170754.1:p.Arg144Arg/c.430C>A,Cgg/Agg,LOW,,0.0896565,0.2302,rs11121662,,,,-1.0459(T),,chr1,11024271,11024271,G,T,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg144Arg/c.430C>A|823|C1orf127|protein_coding|CODING|NM_001170754.1|5|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.045,0.0836,0.0527,0.04,0.04,0.04,,,0.000(P),,0.0000(T),.,-0.404314,4.35,2.43,0.561000,0.286000,1.485000,0.210000,0.731000,1.000000,7.6668
synonymous_variant,MASP2,SILENT,NM_006610.3:p.Ser493Ser/c.1479C>T,tcC/tcT,LOW,,0.6875,0.8651,rs1782455,,,,,,chr1,11087524,11087524,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser493Ser/c.1479C>T|686|MASP2|protein_coding|CODING|NM_006610.3|11|1),downstream_gene_variant(MODIFIER||1975||414|TARDBP|protein_coding|CODING|NM_007375.3||1)","HSMM:DNase1,H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7965,0.7983,0.84,0.67,0.36,0.83,,,,,,,,,,,,,,,,
missense_variant,MASP2,MISSENSE,NM_006610.3:p.Asp371Tyr/c.1111G>T,Gat/Tat,MODERATE,COSM3996739(1),0.58127,0.6657,rs12711521,0.04(D),0.566(P),3.02(M),-1.0096(T),,chr1,11090916,11090916,C,A,hom,missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp371Tyr/c.1111G>T|686|MASP2|protein_coding|CODING|NM_006610.3|9|1),"IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.681,0.7536,0.8201,0.63,0.27,0.81,,0.004558(N),0.000(P),-0.28(T),0.0000(T),0.296,2.439952,5.38,3.5,0.561000,0.645000,0.999000,0.271000,0.004000,0.143000,10.5831
synonymous_variant,SRM,SILENT,NM_003132.2:p.Ser34Ser/c.102A>G,tcA/tcG,LOW,COSM4142128(1),1,1,rs7545802,,,,,,chr1,11119899,11119899,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser34Ser/c.102A>G|302|SRM|protein_coding|CODING|NM_003132.2|1|1),"HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:Cmyc,K562:PolII,H1ESC:H3K9ac,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,IMR90:H3K9ac,K562:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:PolII,HepG2:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:H3K9ac,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:TAF1,GM12878:H3K79me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:DNase1,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:PolII,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,GM06990:H3K4me3,GM12878:Sin3Ak20,HUVEC:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,EXOSC10,SILENT,NM_001001998.1:p.Arg723Arg/c.2169C>T,cgC/cgT,LOW,,0.60623,0.7837,rs1130683,,,,,,chr1,11132217,11132217,G,A,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg723Arg/c.2169C>T|885|EXOSC10|protein_coding|CODING|NM_001001998.1|20|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg698Arg/c.2094C>T|860|EXOSC10|protein_coding|CODING|NM_002685.2|19|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7229,0.755,0.7416,0.59,0.29,0.74,,,,,,,,,,,,,,,,
synonymous_variant,EXOSC10,SILENT,NM_001001998.1:p.Pro463Pro/c.1389G>C,ccG/ccC,LOW,COSM4142129(1),0.772364,0.9405,rs2258621,,,,,,chr1,11141187,11141187,C,G,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro463Pro/c.1389G>C|885|EXOSC10|protein_coding|CODING|NM_001001998.1|11|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro463Pro/c.1389G>C|860|EXOSC10|protein_coding|CODING|NM_002685.2|11|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.8701,0.8415,0.7694,0.69,0.56,0.76,,,,,,,,,,,,,,,,
synonymous_variant,MTOR,SILENT,NM_004958.3:p.Ala1577Ala/c.4731G>A,gcG/gcA,LOW,COSM4142146(1),0.547524,0.8165,rs1057079,,,,,,chr1,11205058,11205058,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1577Ala/c.4731G>A|2549|MTOR|protein_coding|CODING|NM_004958.3|33|1),intron_variant(MODIFIER|||n.310+115C>T||MTOR-AS1||NON_CODING|NR_046600.1|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.6217,0.7017,0.7356,0.55,0.18,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MTOR,SILENT,NM_004958.3:p.Asn999Asn/c.2997C>T,aaC/aaT,LOW,COSM4142152(1),0.700479,0.9187,rs1064261,,,,,,chr1,11288758,11288758,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn999Asn/c.2997C>T|2549|MTOR|protein_coding|CODING|NM_004958.3|19|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.865,0.8141,0.7237,0.62,0.40,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MTOR,SILENT,NM_004958.3:p.Asp479Asp/c.1437T>C,gaT/gaC,LOW,COSM4142157(1),0.639577,0.878,rs1135172,,,,,,chr1,11301714,11301714,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp479Asp/c.1437T>C|2549|MTOR|protein_coding|CODING|NM_004958.3|10|1),"NHEK:CTCF,H1ESC:H3K36me3,IMR90:H3K36me3,NH-A:CTCF,CD4:DNase1,NHEK:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HeLa-S3:H3K36me3,HSMM:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.7822,0.7622,0.7237,0.59,0.31,0.73,,,,,,,,,,,,,,,,
missense_variant,PTCHD2,MISSENSE,NM_020780.1:p.Gly182Ser/c.544G>A,Ggc/Agc,MODERATE,COSM3750253(1),0.371805,0.2718,rs2817580,0.62(T),0.011(B),0.345(N),-0.9869(T),,chr1,11561593,11561593,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly182Ser/c.544G>A|1392|PTCHD2|protein_coding|CODING|NM_020780.1|2|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.3047,0.6311,0.659,0.51,0.25,0.63,,,1.000(P),"1.99,1.99(T,T)",0.0000(T),0.063,-0.017933,2.78,0.794,0.561000,0.058000,0.106000,0.044000,0.000000,0.000000,6.4306
missense_variant,PTCHD2,MISSENSE,NM_020780.1:p.Ala650Thr/c.1948G>A,Gct/Act,MODERATE,COSM3747501(3),0.359824,0.2698,rs2072994,0.46(T),0.002(B),0.49(N),-0.9792(T),,chr1,11579470,11579470,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala650Thr/c.1948G>A|1392|PTCHD2|protein_coding|CODING|NM_020780.1|8|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3599,0.6556,0.6471,0.46,0.14,0.62,,0.603446(N),1.000(P),"-2.47,-2.47(D,D)",0.0000(T),0.007,-1.012886,5.31,-5.84,0.651000,-0.682000,-0.647000,0.017000,0.000000,0.000000,8.0415
missense_variant,FBXO44,MISSENSE,NM_001014765.1:p.Arg49Cys/c.145C>T,Cgc/Tgc,MODERATE,COSM180874(1),,,,0.04(D),"0.987,0.984,0.978(D,D,D)",1.805(L),-0.6323(T),,chr1,11716037,11716037,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg49Cys/c.145C>T|255|FBXO44|protein_coding|CODING|NM_001014765.1|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg49Cys/c.145C>T|255|FBXO44|protein_coding|CODING|NM_033182.5|2|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg49Cys/c.145C>T|224|FBXO44|protein_coding|CODING|NM_183412.2|2|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg49Cys/c.145C>T|224|FBXO44|protein_coding|CODING|NM_183413.2|2|1),upstream_gene_variant(MODIFIER||1149||296|FBXO2|protein_coding|CODING|NM_012168.5||1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,,,,,,,,0.000890(D),0.999(D),"0.64,0.64,0.64,0.64,0.64,0.64,0.64(T,T,T,T,T,T,T)",0.2545(T),0.58,4.053436,5.45,5.45,0.407000,2.555000,2.438000,0.850000,1.000000,1.000000,13.2489
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Pro263Ser/c.787C>T,Ccc/Tcc,MODERATE,COSM4142230(2),0.629593,0.7302,rs6668699,0.8(T),,,-0.9985(T),,chr1,11826630,11826630,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro263Ser/c.787C>T|1449|C1orf167|protein_coding|CODING|NM_001010881.1|3|1),"NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.4714,0.7752,0.6958,,,,,,1.000(P),2.62(T),0.0000(T),0.097,2.106234,3.28,2.34,0.462000,1.824000,-0.124000,0.005000,0.029000,0.000000,5.6741
synonymous_variant,C1orf167,SILENT,NM_001010881.1:p.Pro442Pro/c.1326A>G,ccA/ccG,LOW,,0.968051,1,rs6540996,,,,,,chr1,11827304,11827304,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro442Pro/c.1326A>G|1449|C1orf167|protein_coding|CODING|NM_001010881.1|4|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,1,0.987,1,,,,,,,,,,,,,,,,,,,
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Arg483Gln/c.1448G>A,cGa/cAa,MODERATE,,0.610623,0.7292,rs4845880,0.27(T),,,-1.0747(T),,chr1,11828238,11828238,G,A,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg483Gln/c.1448G>A|1449|C1orf167|protein_coding|CODING|NM_001010881.1|5|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.7738,0.6948,,,,,,1.000(P),3.27(T),0.0000(T),0.202,2.302672,4.05,-1.58,-0.244000,-0.158000,-2.385000,0.485000,0.000000,0.000000,3.5056
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Arg510Gln/c.1529G>A,cGg/cAg,MODERATE,,0.611821,0.7292,rs4845881,0.58(T),,,-1.0663(T),,chr1,11828319,11828319,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg510Gln/c.1529G>A|1449|C1orf167|protein_coding|CODING|NM_001010881.1|5|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.7709,0.6948,,,,,,1.000(P),3.27(T),0.0000(T),0.088,0.440252,4.05,-1.35,0.563000,-0.130000,-0.041000,0.091000,0.865000,0.104000,7.4079
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Arg578Trp/c.1732C>T,Cgg/Tgg,MODERATE,,0.696286,0.88,rs6667720,0.16(T),,,-1.0972(T),,chr1,11831615,11831615,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg578Trp/c.1732C>T|1449|C1orf167|protein_coding|CODING|NM_001010881.1|7|1),HepG2:H3K27me3,,,,0.6391,0.8141,0.7237,,,,,,1.000(P),3.39(T),0.0000(T),0.135,0.764073,3.42,-1.38,-1.361000,-0.326000,-0.588000,0.000000,0.000000,0.000000,1.6279
synonymous_variant,C1orf167,SILENT,NM_001010881.1:p.Leu661Leu/c.1983G>C,ctG/ctC,LOW,,0.56849,0.7649,rs10779764,,,,-1.0043(T),,chr1,11832311,11832311,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu661Leu/c.1983G>C|1449|C1orf167|protein_coding|CODING|NM_001010881.1|8|1),HepG2:H3K27me3,,,,0.4264,0.7594,0.6272,,,,,,0.000(P),,0.0000(T),.,1.109600,3.6,0.23,0.462000,0.306000,0.023000,0.592000,0.944000,0.104000,10.7852
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Trp758Arg/c.2272T>C,Tgg/Cgg,MODERATE,COSM4142231(1),0.70008,0.8839,rs6699881,,,,-1.0228(T),,chr1,11836628,11836628,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp758Arg/c.2272T>C|1449|C1orf167|protein_coding|CODING|NM_001010881.1|10|1),HepG2:H3K27me3,,,,0.6452,0.817,0.7286,,,,,,1.000(P),,0.0000(T),.,-1.528460,4.51,1.56,-1.207000,-0.067000,-0.257000,0.036000,0.015000,0.007000,4.8983
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Arg776Cys/c.2326C>T,Cgc/Tgc,MODERATE,COSM4142232(1),0.570487,0.7698,rs7538516,,,,-1.0945(T),,chr1,11836682,11836682,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg776Cys/c.2326C>T|1449|C1orf167|protein_coding|CODING|NM_001010881.1|10|1),HepG2:H3K27me3,,,,0.4305,0.7594,0.6252,,,,,,1.000(P),,0.0000(T),.,1.041160,4.65,0.706,-1.296000,-0.017000,0.049000,0.020000,0.078000,0.036000,9.1923
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Ser824Ile/c.2471G>T,aGc/aTc,MODERATE,COSM3984136(2),0.570687,0.7698,rs6697244,,,0(N),-1.0686(T),,chr1,11838848,11838848,G,T,hom,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser824Ile/c.2471G>T|1449|C1orf167|protein_coding|CODING|NM_001010881.1|11|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4294,0.7594,0.6252,,,,,,1.000(P),,0.0000(T),.,1.297401,4.55,-2.84,0.407000,-0.821000,-1.006000,0.080000,0.000000,0.000000,6.367
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Arg920His/c.2759G>A,cGt/cAt,MODERATE,,0.569888,0.7649,rs4846043,0.23(T),0.046(B),0.55(N),-1.1326(T),,chr1,11839966,11839966,G,A,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg920His/c.2759G>A|1449|C1orf167|protein_coding|CODING|NM_001010881.1|13|1),HepG2:H3K27me3,,,,0.4315,0.7594,0.6243,,,,,0.013224(N),1.000(P),3.29(T),0.0000(T),0.332,-0.408236,4.37,2.44,-0.283000,0.537000,0.158000,0.233000,0.542000,0.022000,7.5515
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Trp931Arg/c.2791T>C,Tgg/Cgg,MODERATE,,0.879792,0.994,rs4846044,,,0(N),-0.9848(T),,chr1,11839998,11839998,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp931Arg/c.2791T>C|1449|C1orf167|protein_coding|CODING|NM_001010881.1|13|1),HepG2:H3K27me3,,,,0.9816,0.9539,0.9791,,,,,,1.000(P),,0.0000(T),.,-1.586592,4.58,3.66,-3.244000,0.249000,0.009000,0.003000,0.000000,0.000000,9.9019
synonymous_variant,C1orf167,SILENT,NM_001010881.1:p.Ala1035Ala/c.3105C>T,gcC/gcT,LOW,COSM3801430(1),0.498003,0.7649,rs10864543,,,,-1.0014(T),,chr1,11844330,11844330,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1035Ala/c.3105C>T|1449|C1orf167|protein_coding|CODING|NM_001010881.1|15|1),downstream_gene_variant(MODIFIER||1457||656|MTHFR|protein_coding|CODING|NM_005957.4||1)","H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.4151,0.7334,0.6173,,,,,,1.000(P),,0.0000(T),.,0.446510,3.65,-4.88,-0.254000,-0.732000,-1.022000,0.000000,0.000000,0.000000,4.8004
missense_variant,C1orf167,MISSENSE,NM_001010881.1:p.Arg1432Gly/c.4294A>G,Aga/Gga,MODERATE,COSM4142235(1),0.932907,1,rs868014,,,0.55(N),-0.9746(T),,chr1,11849447,11849447,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg1432Gly/c.4294A>G|1449|C1orf167|protein_coding|CODING|NM_001010881.1|21|1),3_prime_UTR_variant(MODIFIER||1290|c.*1290T>C|656|MTHFR|protein_coding|CODING|NM_005957.4|12|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,1,0.9741,1,,,,,,1.000(P),,0.0000(T),.,0.961678,4.52,-2.71,-2.078000,-0.577000,-4.950000,0.001000,0.000000,0.000000,0.5111
synonymous_variant,MTHFR,SILENT,NM_005957.4:p.Phe435Phe/c.1305C>T,ttC/ttT,LOW,,0.902955,0.996,rs4846051,,,,,,chr1,11854457,11854457,G,A,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe435Phe/c.1305C>T|656|MTHFR|protein_coding|CODING|NM_005957.4|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9683,0.997,0.89,0.68,1.00,,,,,,,,,,,,,,,,
missense_variant,CLCN6,MISSENSE,NM_001286.3:p.Glu198Gly/c.593A>G,gAg/gGg,MODERATE,,0.9998,1,rs198400,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-4.125(N),-0.9098(T),,chr1,11884555,11884555,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu176Gly/c.527A>G|847|CLCN6|protein_coding|CODING|NM_001256959.1|7|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu198Gly/c.593A>G|869|CLCN6|protein_coding|CODING|NM_001286.3|8|1),non_coding_exon_variant(MODIFIER|||n.760A>G||CLCN6||CODING|NR_046428.1|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,0.000000(N),0.000(P),"0.63,0.63,0.63,0.63(T,T,T,T)",0.0000(T),0.375,-0.023390,5.79,5.79,-0.215000,1.462000,7.663000,0.165000,1.000000,1.000000,14.207
missense_variant,NPPA,MISSENSE,NM_006172.3:p.Pro66Leu/c.197C>T,cCg/cTg,MODERATE,,,,rs150794709,0.02(D),0.0(B),0.345(N),-1.0342(T),,chr1,11907423,11907423,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro66Leu/c.197C>T|151|NPPA|protein_coding|CODING|NM_006172.3|2|1),intron_variant(MODIFIER|||n.1480-68G>A||NPPA-AS1||NON_CODING|NR_037806.1|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.039543(N),0.825(N),0.98(T),0.0650(T),0.101,0.883068,5.84,4.71,-0.367000,1.041000,2.067000,0.011000,0.956000,1.000000,10.2591
synonymous_variant,KIAA2013,SILENT,NM_138346.2:p.Phe458Phe/c.1374T>C,ttT/ttC,LOW,COSM3750284(2),0.675319,0.6796,rs3795408,,,,,,chr1,11983206,11983206,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe458Phe/c.1374T>C|634|KIAA2013|protein_coding|CODING|NM_138346.2|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.6861,0.5317,0.5537,0.59,0.75,0.52,,,,,,,,,,,,,,,,
synonymous_variant,PLOD1,SILENT,NM_000302.3:p.Phe98Phe/c.294C>T,ttC/ttT,LOW,COSM3996779(2),0.267772,0.3631,rs7529452,,,,,,chr1,12009955,12009955,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe98Phe/c.294C>T|727|PLOD1|protein_coding|CODING|NM_000302.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4233,0.3357,0.3052,0.23,0.07,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PLOD1,SILENT,NM_000302.3:p.Asn402Asn/c.1206C>T,aaC/aaT,LOW,COSM3996784(4),0.348442,0.3839,rs1130529,,,,,,chr1,12024235,12024235,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn402Asn/c.1206C>T|727|PLOD1|protein_coding|CODING|NM_000302.3|12|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4489,0.3545,0.3151,0.31,0.29,0.32,,,,,,,,,,,,,,,,
missense_variant,MIIP,MISSENSE,NM_021933.3:p.Lys99Asn/c.297A>T,aaA/aaT,MODERATE,COSM1600191(2),0.162141,0.0685,rs11553925,0.15(T),0.677(P),1.79(L),-1.0508(T),,chr1,12082334,12082334,A,T,hom,missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys99Asn/c.297A>T|388|MIIP|protein_coding|CODING|NM_021933.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1636,0.1398,0.2515,0.22,0.17,0.25,,0.119944(N),1.000(P),"2.0,2.0(T,T)",0.0000(T),0.023,3.982609,4.49,-1.21,-0.285000,-0.287000,-0.465000,0.740000,0.000000,0.000000,8.0747
missense_variant,MIIP,MISSENSE,NM_021933.3:p.Pro142Ser/c.424C>T,Ccg/Tcg,MODERATE,COSM423621(2),0.0836661,0.0675,rs11588712,0.45(T),0.234(B),1.5(L),-1.0241(T),,chr1,12082461,12082461,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro142Ser/c.424C>T|388|MIIP|protein_coding|CODING|NM_021933.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.0992,0.0893,0.159,0.12,0.05,0.15,,0.015426(N),1.000(P),"2.23,2.23(T,T)",0.0002(T),0.073,1.671371,4.42,2.51,0.591000,0.550000,0.286000,0.001000,0.000000,0.000000,5.7764
missense_variant,MIIP,MISSENSE,NM_021933.3:p.Lys167Glu/c.499A>G,Aag/Gag,MODERATE,,0.669329,0.5516,rs2295283,1(T),0.0(B),-1.79(N),-1.0104(T),,chr1,12082926,12082926,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys167Glu/c.499A>G|388|MIIP|protein_coding|CODING|NM_021933.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6115,0.598,0.7276,0.74,0.79,0.71,,0.201260(N),1.000(P),"2.68,2.68(T,T)",0.0000(T),0.016,-1.945159,4.53,1.47,-0.684000,0.101000,2.016000,0.210000,0.068000,0.360000,5.7114
missense_variant,TNFRSF8,MISSENSE,NM_001243.4:p.Arg297Cys/c.889C>T,Cgt/Tgt,MODERATE,COSM4142272(1),1,1,rs1763642,1(T),0.0(B),,-0.9386(T),,chr1,12175729,12175729,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg297Cys/c.889C>T|595|TNFRSF8|protein_coding|CODING|NM_001243.4|8|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg186Cys/c.556C>T|483|TNFRSF8|protein_coding|CODING|NM_001281430.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,1,1,,,,,,0.000(P),"-0.37,-0.37(T,T)",0.0000(T),0.115,-0.537471,3.83,3.83,-0.516000,0.659000,2.017000,0.751000,1.000000,1.000000,6.1411
synonymous_variant,TNFRSF1B,SILENT,NM_001066.2:p.Lys56Lys/c.168A>G,aaA/aaG,LOW,COSM3747514(2),0.199281,0.1548,rs945439,,,,,,chr1,12248942,12248942,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys56Lys/c.168A>G|461|TNFRSF1B|protein_coding|CODING|NM_001066.2|2|1),"IMR90:H3K36me3,NHEK:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.273,0.134,0.2147,0.24,0.22,0.24,,,,,,,,,,,,,,,,
missense_variant,TNFRSF1B,MISSENSE,NM_001066.2:p.Met196Arg/c.587T>G,aTg/aGg,MODERATE,COSM146406(2),0.194688,0.1498,rs1061622,0.18(T),0.001(B),0.31(N),-1.0746(T),,chr1,12252955,12252955,T,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met196Arg/c.587T>G|461|TNFRSF1B|protein_coding|CODING|NM_001066.2|6|1),downstream_gene_variant(MODIFIER||1125|||MIR4632||NON_CODING|NR_039775.2||1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.2761,0.1268,0.2177,0.23,0.21,0.24,,0.216872(N),1.000(P),0.18(T),0.0000(T),0.068,1.310596,4.15,-4.13,0.482000,-0.694000,-1.738000,0.905000,0.000000,0.000000,7.0833
synonymous_variant,VPS13D,SILENT,NM_015378.2:p.Asp3554Asp/c.10662C>T,gaC/gaT,LOW,,0.0646965,0.0179,rs2295338,,,,-0.8714(T),,chr1,12429611,12429611,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp3554Asp/c.10662C>T|4388|VPS13D|protein_coding|CODING|NM_015378.2|54|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp3529Asp/c.10587C>T|4363|VPS13D|protein_coding|CODING|NM_018156.2|53|1)","IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.0695,0.0634,0.0427,0.06,0.10,0.04,,,0.000(P),,0.0065(T),.,1.004065,5.93,-6.53,-0.806000,-1.561000,-0.140000,0.959000,0.748000,0.771000,18.7169
synonymous_variant,DHRS3,SILENT,NM_004753.6:p.Pro160Pro/c.480A>G,ccA/ccG,LOW,,0.804712,0.7282,rs2275875,,,,,,chr1,12638964,12638964,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro160Pro/c.480A>G|302|DHRS3|protein_coding|CODING|NM_004753.6|4|1),downstream_gene_variant(MODIFIER||21|||MIR6730||NON_CODING|NR_106788.1||1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3",,,,0.8988,0.7291,0.8469,0.85,0.83,0.86,,,,,,,,,,,,,,,,
stop_lost,AADACL3,MISSENSE,NM_001103170.2:p.Ter13Cysext*?/c.39A>C,tgA/tgC,HIGH,,0.85643,0.7321,rs3000860,,,,,,chr1,12776218,12776218,A,C,hom,"stop_lost(HIGH|MISSENSE|tgA/tgC|p.Ter13Cysext*?/c.39A>C|407|AADACL3|protein_coding|CODING|NM_001103170.2|1|1),non_coding_exon_variant(MODIFIER|||n.101A>C||AADACL3||CODING|NR_111984.1|1|1)","GM12878:H3K36me3,H1ESC:H3K27ac,HepG2:H3K27me3,H1ESC:H4K5ac",,,,0.9162,0.8948,0.8638,,,,,,,,,,,,,,,,,,,
synonymous_variant,AADACL3,SILENT,NM_001103170.2:p.Thr55Thr/c.165A>T,acA/acT,LOW,,0.65655,0.619,rs3000859,1(T),0.0(B),,-0.9074(T),,chr1,12776344,12776344,A,T,hom,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr55Thr/c.165A>T|407|AADACL3|protein_coding|CODING|NM_001103170.2|1|1),non_coding_exon_variant(MODIFIER|||n.227A>T||AADACL3||CODING|NR_111984.1|1|1)","GM12878:H3K36me3,H1ESC:H3K27ac,HepG2:H3K27me3,H1ESC:H4K5ac",,,,0.7423,0.8473,0.8151,0.73,0.51,0.83,,,0.000(P),3.47(T),0.0000(T),0.023,-0.226085,5.0,-10.0,-0.545000,-1.257000,-2.328000,0.096000,0.064000,0.000000,1.0789
synonymous_variant,AADACL3,SILENT,NM_001103170.2:p.Asp84Asp/c.252T>C,gaT/gaC,LOW,,0.849441,0.7817,rs3010876,,,,,,chr1,12779560,12779560,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp84Asp/c.252T>C|407|AADACL3|protein_coding|CODING|NM_001103170.2|2|1),intron_variant(MODIFIER|||n.231-1325T>C||AADACL3||CODING|NR_111984.1|1|1)","K562:H3K27me3,GM12878:H3K36me3",,,,0.817,0.8818,0.83,0.86,0.91,0.83,,,,,,,,,,,,,,,,
missense_variant,AADACL3,MISSENSE,NM_001103170.2:p.Ser104Pro/c.310T>C,Tcc/Ccc,MODERATE,,0.848043,0.7817,rs3010877,1(T),0.0(B),-2.67(N),-1.0170(T),,chr1,12779618,12779618,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser104Pro/c.310T>C|407|AADACL3|protein_coding|CODING|NM_001103170.2|2|1),intron_variant(MODIFIER|||n.231-1267T>C||AADACL3||CODING|NR_111984.1|1|1)","K562:H3K27me3,GM12878:H3K36me3",,,,0.816,0.879,0.826,0.86,0.92,0.83,,0.000001(N),0.000(P),4.21(T),0.0000(T),0.072,-1.067753,4.44,4.44,-0.320000,1.108000,2.226000,0.034000,0.397000,0.996000,9.7469
missense_variant,AADACL3,MISSENSE,NM_001103170.2:p.Cys252Phe/c.755G>T,tGt/tTt,MODERATE,,0.682308,0.7798,rs111199207,1(T),"0.22,0.037(B,B)",-0.24(N),-0.9627(T),,chr1,12785494,12785494,G,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys252Phe/c.755G>T|407|AADACL3|protein_coding|CODING|NM_001103170.2|4|1),non_coding_exon_variant(MODIFIER|||n.600G>T||AADACL3||CODING|NR_111984.1|3|1)","K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.7342,0.7752,0.7296,0.67,0.52,0.73,,0.000004(N),1.000(P),"3.25,3.52(T,T)",0.0000(T),0.11,0.016412,5.35,5.35,0.484000,2.504000,1.327000,0.038000,0.464000,0.093000,5.3591
missense_variant,C1orf158,MISSENSE,NM_152290.3:p.Phe191Leu/c.571T>C,Ttc/Ctc,MODERATE,,0.823482,0.7808,rs1132185,0.58(T),0.0(B),0(N),-0.9927(T),,chr1,12820870,12820870,T,C,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe191Leu/c.571T>C|194|C1orf158|protein_coding|CODING|NM_152290.3|4|1),"K562:H3K27me3,HeLa-S3:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.7587,0.8545,0.7873,0.82,0.89,0.79,,0.011232(N),1.000(P),"1.17,1.16(T,T)",0.0000(T),0.012,0.305549,4.34,-8.68,-2.508000,-1.940000,-0.774000,0.003000,0.000000,0.000000,1.1769
missense_variant,PRAMEF12,MISSENSE,NM_001080830.4:p.Met157Thr/c.470T>C,aTg/aCg,MODERATE,,0.716454,0.7183,rs1812242,0.56(T),0.0(B),-2.24(N),-0.9952(T),,chr1,12835868,12835868,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met157Thr/c.470T>C|483|PRAMEF12|protein_coding|CODING|NM_001080830.4|2|1),"K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.7546,0.8213,0.7982,0.74,0.61,0.80,,0.017038(N),1.000(P),5.51(T),0.0000(T),0.008,-2.316973,2.67,-2.39,-0.684000,-0.966000,-1.543000,0.010000,0.000000,0.000000,5.42
synonymous_variant,PRAMEF12,SILENT,NM_001080830.4:p.Ile448Ile/c.1344T>A,atT/atA,LOW,,0.663339,0.7192,rs848578,,,,,,chr1,12837634,12837634,T,A,hom,synonymous_variant(LOW|SILENT|atT/atA|p.Ile448Ile/c.1344T>A|483|PRAMEF12|protein_coding|CODING|NM_001080830.4|3|1),"K562:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.7556,0.8055,0.8012,0.68,0.43,0.81,,,,,,,,,,,,,,,,
missense_variant,PRAMEF1,MISSENSE,NM_023013.4:p.Pro218Ser/c.652C>T,Cca/Tca,MODERATE,,,,rs1769774,0.44(T),0.029(B),-0.09(N),-0.9126(T),,chr1,12854428,12854428,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro218Ser/c.652C>T|474|PRAMEF1|protein_coding|CODING|NM_023013.4|3|1),upstream_gene_variant(MODIFIER||415||229|PRAMEF1|protein_coding|CODING|NM_001294139.1||1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,0.28,0.22,0.32,,0.049591(N),1.000(P),2.49(T),0.0000(T),0.131,-2.005143,1.61,-0.486,-0.445000,-0.146000,-0.115000,0.001000,0.000000,0.000000,2.601
missense_variant,PRAMEF1,MISSENSE,NM_023013.4:p.Gln252Glu/c.754C>G,Caa/Gaa,MODERATE,,0.867212,0.7986,rs1063776,1(T),0.001(B),-0.275(N),-0.9996(T),,chr1,12854530,12854530,C,G,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln252Glu/c.754C>G|474|PRAMEF1|protein_coding|CODING|NM_023013.4|3|1),upstream_gene_variant(MODIFIER||313||229|PRAMEF1|protein_coding|CODING|NM_001294139.1||1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.8446,0.8919,0.8638,0.87,0.91,0.86,,0.559892(N),1.000(P),5.57(T),0.0000(T),0.087,-2.797543,0.725,-0.476,-0.444000,-1.065000,-3.001000,0.000000,0.000000,0.000000,.
synonymous_variant,PRAMEF1,SILENT,NM_023013.4:p.Val256Val/c.768T>C,gtT/gtC,LOW,COSM4142305(1),0.359026,0.5159,rs1063778,,,,,,chr1,12854544,12854544,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val256Val/c.768T>C|474|PRAMEF1|protein_coding|CODING|NM_023013.4|3|1),upstream_gene_variant(MODIFIER||299||229|PRAMEF1|protein_coding|CODING|NM_001294139.1||1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4192,0.3127,0.3509,0.32,0.25,0.36,,,,,,,,,,,,,,,,
synonymous_variant,LOC649330,SILENT,NM_001146181.2:p.Thr287Thr/c.861C>G,acC/acG,LOW,COSM146409(3),,,rs139731855,,,,,,chr1,12907282,12907282,G,C,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr287Thr/c.861C>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr287Thr/c.861C>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Thr287Ala/c.859A>G,Acc/Gcc,MODERATE,COSM311826(3),,,rs149796618,1(T),0.001(B),-0.49(N),-0.9317(T),,chr1,12907284,12907284,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr287Ala/c.859A>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr287Ala/c.859A>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.535811(N),1.000(N),3.13(T),0.0072(T),0.079,-3.254567,1.09,-1.19,-1.249000,-0.449000,0.713000,0.004000,0.023000,1.000000,5.5476
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Ser286Arg/c.858C>G,agC/agG,MODERATE,COSM146410(3),,,rs148930640,0.12(T),0.002(B),2.045(M),-1.0755(T),,chr1,12907285,12907285,G,C,het,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser286Arg/c.858C>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser286Arg/c.858C>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.000458(N),0.974(D),2.49(T),0.0278(T),0.295,-1.021841,1.09,-1.76,-2.162000,-0.452000,0.492000,0.003000,0.032000,1.000000,3.3012
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Glu276Gly/c.827A>G,gAg/gGg,MODERATE,COSM4142334(3),,,rs112607517,0.1(T),0.0(B),2.045(M),-1.0922(T),,chr1,12907316,12907316,T,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu276Gly/c.827A>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu276Gly/c.827A>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.000254(N),0.004(P),2.59(T),0.0320(T),0.374,0.252609,0.926,0.926,0.145000,0.676000,1.931000,0.134000,0.919000,1.000000,6.0631
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Asp265Asn/c.793G>A,Gac/Aac,MODERATE,,,,rs2359486,0.34(T),0.233(B),1.555(L),-0.9962(T),,chr1,12907350,12907350,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp265Asn/c.793G>A|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp265Asn/c.793G>A|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.618357(N),1.000(N),2.78(T),0.0211(T),0.049,1.012127,1.09,0.103,-0.505000,0.053000,1.125000,0.002000,0.003000,1.000000,5.6105
synonymous_variant,LOC649330,SILENT,NM_001146181.2:p.Asp264Asp/c.792T>C,gaT/gaC,LOW,,,,rs2359485,,,,,,chr1,12907351,12907351,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp264Asp/c.792T>C|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp264Asp/c.792T>C|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Val258Asp/c.773T>A,gTt/gAt,MODERATE,COSM4142335(1),,,rs2076063,0.46(T),0.0(B),-1.845(N),-0.9362(T),,chr1,12907370,12907370,A,T,het,"missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val258Asp/c.773T>A|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val258Asp/c.773T>A|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.007925(N),1.000(N),3.02(T),0.0046(T),0.211,-1.876804,1.09,1.09,-1.046000,-0.054000,2.013000,0.023000,0.011000,1.000000,3.1938
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Asp255Gly/c.764A>G,gAt/gGt,MODERATE,,0.232029,0.3026,rs74055698,0.44(T),0.991(D),2.075(M),-0.9514(T),,chr1,12907379,12907379,T,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp255Gly/c.764A>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp255Gly/c.764A>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.1339,0.1182,0.1352,,,,,0.009381(U),0.885(P),2.73(T),0.0000(T),0.299,1.346194,1.09,-0.423,0.341000,-0.107000,1.663000,0.008000,0.056000,0.997000,4.9313
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Asp255Tyr/c.763G>T,Gat/Tat,MODERATE,,,,rs141207681,0.08(T),0.998(D),2.075(M),-1.0588(T),,chr1,12907380,12907380,C,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp255Tyr/c.763G>T|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp255Tyr/c.763G>T|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.009381(U),0.691(N),2.69(T),0.0658(T),0.26,1.342153,0.848,-0.361,-0.786000,-0.103000,1.540000,0.007000,0.058000,1.000000,5.683
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Pro253Leu/c.758C>T,cCa/cTa,MODERATE,COSM1662174(2),,,rs150590256,0.12(T),0.0(B),-2.255(N),-0.9148(T),,chr1,12907385,12907385,G,A,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro253Leu/c.758C>T|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro253Leu/c.758C>T|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.064662(N),0.996(N),3.14(T),0.0042(T),0.189,-2.105909,0.848,-1.58,-0.755000,-0.163000,1.770000,0.006000,0.049000,1.000000,4.3013
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Ala248Val/c.743C>T,gCt/gTt,MODERATE,,,,rs149302457,0.08(T),0.986(D),2.045(M),-1.1389(T),,chr1,12907400,12907400,G,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala248Val/c.743C>T|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala248Val/c.743C>T|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.000860(U),0.923(N),2.89(T),0.0595(T),0.205,2.264735,1.09,1.09,0.416000,0.916000,0.373000,0.024000,0.375000,0.996000,8.1133
synonymous_variant,LOC649330,SILENT,NM_001146181.2:p.Gly122Gly/c.366A>G,ggA/ggG,LOW,COSM1600679(7),,,rs28391533,,,,,,chr1,12907777,12907777,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly122Gly/c.366A>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly122Gly/c.366A>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Asp121Gly/c.362A>G,gAt/gGt,MODERATE,COSM1600680(11),0.000599042,0.002,rs28441396,0.11(T),0.1(B),2.125(M),-1.0833(T),,chr1,12907781,12907781,T,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp121Gly/c.362A>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp121Gly/c.362A>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0,0.0014,0,,,,,0.000029(U),0.001(P),2.76(T),0.0260(T),0.283,1.818753,1.09,-1.98,-1.328000,-0.980000,1.515000,0.001000,0.010000,1.000000,4.8557
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Phe115Leu/c.345T>G,ttT/ttG,MODERATE,COSM4142342(3),,,rs150096254,0.41(T),0.002(B),1.82(L),-0.9893(T),,chr1,12907798,12907798,A,C,het,"missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe115Leu/c.345T>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe115Leu/c.345T>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.006349(U),0.013(P),2.9(T),0.0208(T),0.454,1.074129,1.09,-2.18,-1.328000,-1.226000,-0.075000,0.023000,0.119000,0.995000,5.2817
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Gly114Asp/c.341G>A,gGc/gAc,MODERATE,COSM4142343(1),,,rs138087690,0.43(T),0.0(B),-2.44(N),-0.9492(T),,chr1,12907802,12907802,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly114Asp/c.341G>A|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly114Asp/c.341G>A|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.021572(N),1.000(P),3.08(T),0.0036(T),0.219,-1.531386,1.09,-0.499,-0.755000,-0.055000,1.401000,0.048000,0.488000,0.998000,3.125
missense_variant,LOC649330,MISSENSE,NM_001146181.2:p.Gly114Ser/c.340G>A,Ggc/Agc,MODERATE,COSM4142344(1),,,rs141460546,0.41(T),0.0(B),0(N),-1.0099(T),,chr1,12907803,12907803,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly114Ser/c.340G>A|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly114Ser/c.340G>A|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.021572(U),1.000(P),2.89(T),0.0116(T),0.253,1.251013,1.09,1.09,0.416000,0.916000,1.298000,0.060000,0.732000,1.000000,5.5784
synonymous_variant,LOC649330,SILENT,NM_001146181.2:p.Ala102Ala/c.306G>A,gcG/gcA,LOW,COSM4142345(2),0.00738818,0,rs1736811,,,,,,chr1,12907837,12907837,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala102Ala/c.306G>A|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala102Ala/c.306G>A|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0031,0.0072,0.005,,,,,,,,,,,,,,,,,,,
synonymous_variant,LOC649330,SILENT,NM_001146181.2:p.Ala86Ala/c.258A>G,gcA/gcG,LOW,COSM4142346(2),0.913938,0.8125,rs848418,,,,,,chr1,12907885,12907885,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala86Ala/c.258A>G|293|LOC649330|protein_coding|CODING|NM_001146181.2|1|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala86Ala/c.258A>G|293|HNRNPCL1|protein_coding|CODING|NM_001013631.1|2|1)","K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.9254,0.9121,0.9433,,,,,,,,,,,,,,,,,,,
missense_variant,HNRNPCL2,MISSENSE,NM_001136561.3:p.His145Arg/c.434A>G,cAc/cGc,MODERATE,,0.679712,0.7163,rs28713604,,,,,,chr1,13183439,13183439,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His145Arg/c.434A>G|293|HNRNPCL2|protein_coding|CODING|NM_001136561.3|2|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.8149,0.6556,0.664,,,,,,,,,,,,,,,,,,,
missense_variant,HNRNPCL2,MISSENSE,NM_001136561.3:p.Asp121Gly/c.362A>G,gAt/gGt,MODERATE,,,,rs72864546,,,,,,chr1,13183511,13183511,T,C,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp121Gly/c.362A>G|293|HNRNPCL2|protein_coding|CODING|NM_001136561.3|2|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,HNRNPCL2,MISSENSE,NM_001136561.3:p.Phe115Leu/c.345T>G,ttT/ttG,MODERATE,,,,rs76937665,,,,,,chr1,13183528,13183528,A,C,het,missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe115Leu/c.345T>G|293|HNRNPCL2|protein_coding|CODING|NM_001136561.3|2|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,HNRNPCL2,MISSENSE,NM_001136561.3:p.Gly114Asp/c.341G>A,gGc/gAc,MODERATE,,,,rs77505369,,,,,,chr1,13183532,13183532,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly114Asp/c.341G>A|293|HNRNPCL2|protein_coding|CODING|NM_001136561.3|2|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,HNRNPCL2,MISSENSE,NM_001136561.3:p.Gly114Ser/c.340G>A,Ggc/Agc,MODERATE,,,,rs77556803,,,,,,chr1,13183533,13183533,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly114Ser/c.340G>A|293|HNRNPCL2|protein_coding|CODING|NM_001136561.3|2|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,HNRNPCL2,SILENT,NM_001136561.3:p.Ala102Ala/c.306G>A,gcG/gcA,LOW,,0.00159744,0,rs78160026,,,,,,chr1,13183567,13183567,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala102Ala/c.306G>A|293|HNRNPCL2|protein_coding|CODING|NM_001136561.3|2|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,HNRNPCL2,SILENT,NM_001136561.3:p.Ser100Ser/c.300C>A,tcC/tcA,LOW,,0.0491214,0.129,rs76669210,,,,,,chr1,13183573,13183573,G,T,het,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser100Ser/c.300C>A|293|HNRNPCL2|protein_coding|CODING|NM_001136561.3|2|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0307,0.072,0.0179,,,,,,,,,,,,,,,,,,,
missense_variant,LRRC38,MISSENSE,NM_001010847.1:p.Lys292Glu/c.874A>G,Aag/Gag,MODERATE,COSM1582915(3),0.462061,0.62,rs3013105,1(T),0.0(B),-1.78(N),-0.9222(T),,chr1,13802325,13802325,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys292Glu/c.874A>G|294|LRRC38|protein_coding|CODING|NM_001010847.1|2|1),"HeLa-S3:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.3855,0.3357,0.3837,,,,,0.082822(N),1.000(P),0.28(T),0.0000(T),0.085,-1.483234,5.25,5.25,-0.215000,1.225000,1.002000,0.084000,0.701000,0.048000,5.2956
synonymous_variant,LRRC38,SILENT,NM_001010847.1:p.Ser254Ser/c.762C>T,tcC/tcT,LOW,COSM3750306(1),0.324681,0.3879,rs3013106,,,,,,chr1,13802437,13802437,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser254Ser/c.762C>T|294|LRRC38|protein_coding|CODING|NM_001010847.1|2|1),"HeLa-S3:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.274,0.2262,0.2505,,,,,,,,,,,,,,,,,,,
missense_variant,PDPN,MISSENSE,NM_006474.4:p.Ala223Gly/c.668C>G,gCa/gGa,MODERATE,,0.98143,1,rs2486188,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.5(N),-0.9471(T),,chr1,13940864,13940864,C,G,hom,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala105Gly/c.314C>G|118|PDPN|protein_coding|CODING|NM_001006625.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala223Gly/c.668C>G|236|PDPN|protein_coding|CODING|NM_198389.2|5|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala105Gly/c.314C>G|120|PDPN|protein_coding|CODING|NM_001006624.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala223Gly/c.668C>G|238|PDPN|protein_coding|CODING|NM_006474.4|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9867,0.9885,0.9304,0.97,0.99,0.95,,0.018233(N),1.000(P),"2.71,2.71,2.71,2.71,2.71,2.71,2.71,2.71(T,T,T,T,T,T,T,T)",0.0000(T),0.091,0.230654,5.93,5.93,-0.120000,1.545000,0.521000,0.849000,0.078000,0.896000,13.3703
missense_variant,PRDM2,MISSENSE,NM_001135610.1:p.Gln198Arg/c.593A>G,cAg/cGg,MODERATE,,0.821286,0.7073,rs1046331,0.49(T),0.0(B),,-1.0378(T),,chr1,14143003,14143003,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln198Arg/c.593A>G|226|PRDM2|protein_coding|CODING|NM_001135610.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1706Pro/c.5118A>G|1718|PRDM2|protein_coding|CODING|NM_012231.4|9|1)","IMR90:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.727,0.8573,0.8569,0.87,0.93,0.84,,,1.000(P),0.56(T),0.0000(T),.,0.126580,5.07,-4.33,-0.812000,-1.681000,-1.880000,0.431000,0.000000,0.000000,7.1999
synonymous_variant,C1orf195,SILENT,NM_001278501.1:p.Arg16Arg/c.48A>G,cgA/cgG,LOW,,0.95627,0.994,rs6429722,,,,,,chr1,15497727,15497727,T,C,hom,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg16Arg/c.48A>G|126|C1orf195|protein_coding|CODING|NM_001278501.1|2|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg16Arg/c.48A>G|71|C1orf195|protein_coding|CODING|NM_001278502.1|2|1),intron_variant(MODIFIER|||c.-267+18447T>C|253|TMEM51|protein_coding|CODING|NM_001136216.1|1|1),intron_variant(MODIFIER|||c.-194+18447T>C|253|TMEM51|protein_coding|CODING|NM_001136217.1|1|1),intron_variant(MODIFIER|||c.-267+17277T>C|253|TMEM51|protein_coding|CODING|NM_001136218.1|1|1),intron_variant(MODIFIER|||c.-194+17277T>C|253|TMEM51|protein_coding|CODING|NM_018022.2|1|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.9847,0.9582,0.9523,,,,,,,,,,,,,,,,,,,
synonymous_variant,TMEM51,SILENT,NM_001136216.1:p.Pro200Pro/c.600G>A,ccG/ccA,LOW,COSM3747568(1),0.204273,0.0754,rs3753313,,,,,,chr1,15546077,15546077,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro200Pro/c.600G>A|253|TMEM51|protein_coding|CODING|NM_001136216.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro200Pro/c.600G>A|253|TMEM51|protein_coding|CODING|NM_001136217.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro200Pro/c.600G>A|253|TMEM51|protein_coding|CODING|NM_001136218.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro200Pro/c.600G>A|253|TMEM51|protein_coding|CODING|NM_018022.2|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3",,,,0.3661,0.2003,0.3499,0.27,0.12,0.35,,,,,,,,,,,,,,,,
missense_variant,FHAD1,MISSENSE,NM_052929.1:p.Arg182His/c.545G>A,cGc/cAc,MODERATE,COSM4142814(2),0.208067,0.0417,rs486557,0.2(T),0.0(B),-0.55(N),-1.0376(T),,chr1,15616139,15616139,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg182His/c.545G>A|1412|FHAD1|protein_coding|CODING|NM_052929.1|4|1),"K562:Nrsf,HepG2:H3K27me3",,,,0.2587,0.2089,0.326,,,,,0.343560(N),1.000(P),"0.88,0.87,0.86,0.88(T,T,T,T)",0.0000(T),0.087,0.275364,3.77,-7.54,-1.154000,-1.849000,-0.847000,0.002000,0.000000,0.000000,12.0544
synonymous_variant,FHAD1,SILENT,NM_052929.1:p.His494His/c.1482C>T,caC/caT,LOW,,0.221046,0.0486,rs3765357,,,,-0.9377(T),,chr1,15653563,15653563,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His494His/c.1482C>T|1412|FHAD1|protein_coding|CODING|NM_052929.1|12|1),"K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,NH-A:H3K27me3,K562:DNase1",,,,0.3395,0.3228,0.329,0.25,0.16,0.30,,,0.000(P),,0.0000(T),.,1.616153,5.38,-4.2,-0.258000,-0.649000,-0.664000,0.717000,0.969000,0.688000,2.1205
missense_variant,FHAD1,MISSENSE,NM_052929.1:p.Gly651Arg/c.1951G>A,Gga/Aga,MODERATE,COSM3750434(1),0.345847,0.0407,rs763821,0.53(T),0.001(B),-0.55(N),-0.9188(T),,chr1,15668276,15668276,G,A,hom,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly651Arg/c.1951G>A|1412|FHAD1|protein_coding|CODING|NM_052929.1|15|1),"NHEK:H3K27ac,HUVEC:H3K4me2,NHEK:H3K4me1,NHEK:H3K4me2,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3,CD4:H3K27ac",,,,0.3722,0.4078,0.4006,0.43,0.51,0.40,,0.553503(N),0.000(P),"-1.68,-1.68,-1.68,-1.68(D,D,D,D)",0.0000(T),0.125,-1.360892,4.25,0.616,-0.361000,-0.271000,-0.010000,0.212000,0.072000,0.877000,9.4141
missense_variant,FHAD1,MISSENSE,NM_052929.1:p.Glu919Gly/c.2756A>G,gAa/gGa,MODERATE,,0.252995,0.2887,rs4661330,0.02(D),"0.997,0.989,0.009(D,D,B)",2.14(M),-1.0814(T),,chr1,15687059,15687059,A,G,het,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu919Gly/c.2756A>G|1412|FHAD1|protein_coding|CODING|NM_052929.1|21|1),,,,,0.2035,0.2147,0.2853,0.28,0.26,0.28,,,0.000(P),"0.94,0.94,0.94,0.94,1.72,1.72,1.72(T,T,T,T,T,T,T)",0.0000(T),0.47,3.540762,5.35,5.35,0.460000,2.034000,3.610000,0.012000,0.119000,0.983000,11.7335
missense_variant,FHAD1,MISSENSE,NM_052929.1:p.Ile1325Val/c.3973A>G,Att/Gtt,MODERATE,COSM3750454(1),0.422125,0.2589,rs1010294,0.53(T),"0.0,0.0(B,B)",-2.08(N),-0.9639(T),,chr1,15708540,15708540,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1325Val/c.3973A>G|1412|FHAD1|protein_coding|CODING|NM_052929.1|30|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.3671,0.3055,0.2624,0.39,0.69,0.26,,,1.000(P),"1.17,1.17,1.08,1.17,1.08,1.09,1.14(T,T,T,T,T,T,T)",0.0000(T),0.109,-2.038631,5.95,-4.31,-0.716000,-0.699000,-1.470000,0.174000,0.000000,0.000000,7.5924
synonymous_variant,FHAD1,SILENT,NM_052929.1:p.Leu1391Leu/c.4173G>A,ctG/ctA,LOW,COSM3996977(1),0.310703,0.4504,rs2294490,,,,,,chr1,15723843,15723843,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1391Leu/c.4173G>A|1412|FHAD1|protein_coding|CODING|NM_052929.1|31|1),HepG2:H3K27me3,,,,0.32,0.2925,0.4533,0.36,0.14,0.46,,,,,,,,,,,,,,,,
synonymous_variant,CTRC,SILENT,NM_007272.2:p.Asp95Asp/c.285C>T,gaC/gaT,LOW,,0.0329473,0.0585,rs41307798,0(D),,,-0.9543(T),,chr1,15768997,15768997,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp95Asp/c.285C>T|268|CTRC|protein_coding|CODING|NM_007272.2|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0419,0.0375,0.0348,0.02,0.01,0.03,,,1.000(N),,0.0068(T),.,-0.599951,4.39,-6.15,-1.149000,-1.035000,-5.927000,0.004000,0.002000,0.000000,6.9003
synonymous_variant,CELA2A,SILENT,NM_033440.2:p.Ala224Ala/c.672G>A,gcG/gcA,LOW,,0.179912,0.0446,rs1042010,,,,,,chr1,15793913,15793913,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala224Ala/c.672G>A|269|CELA2A|protein_coding|CODING|NM_033440.2|7|1),HepG2:H3K27me3,,,,0.1902,0.1556,0.169,0.22,0.28,0.19,,,,,,,,,,,,,,,,
missense_variant,CELA2B,MISSENSE,NM_015849.2:p.Gln177Arg/c.530A>G,cAg/cGg,MODERATE,,0.993211,1,rs6429745,0.37(T),0.0(B),-0.63(N),-0.9712(T),,chr1,15812432,15812432,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln177Arg/c.530A>G|269|CELA2B|protein_coding|CODING|NM_015849.2|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3",,,,1,0.9942,1,0.99,0.98,1.00,,0.304906(N),1.000(P),-2.38(D),0.0000(T),0.122,0.258013,3.82,-2.83,-0.298000,-1.183000,-2.057000,0.678000,0.000000,0.000000,0.4607
missense_variant,CASP9,MISSENSE,NM_001229.4:p.Gln221Arg/c.662A>G,cAg/cGg,MODERATE,,0.584864,0.6538,rs1052576,1(T),"0.001,0.001(B,B)",-0.52(N),-0.9173(T),,chr1,15832543,15832543,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln221Arg/c.662A>G|416|CASP9|protein_coding|CODING|NM_001229.4|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln138Arg/c.413A>G|333|CASP9|protein_coding|CODING|NM_032996.3|5|1),intron_variant(MODIFIER|||c.419-10596A>G|266|CASP9|protein_coding|CODING|NM_001278054.1|2|1),non_coding_exon_variant(MODIFIER|||n.965A>G||CASP9||CODING|NR_102732.1|5|1),non_coding_exon_variant(MODIFIER|||n.767A>G||CASP9||CODING|NR_102733.1|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4376,0.4986,0.5149,0.59,0.70,0.53,,0.128269(N),0.391(P),"2.1,2.1,2.1,2.1(T,T,T,T)",0.0000(T),0.32,0.441447,5.89,-9.49,-2.575000,-2.385000,-1.738000,0.007000,0.001000,0.000000,15.8974
synonymous_variant,CASP9,SILENT,NM_001229.4:p.Phe136Phe/c.408T>C,ttT/ttC,LOW,COSM146414(2),0.584864,0.6538,rs1132312,,,,,,chr1,15844615,15844615,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe136Phe/c.408T>C|416|CASP9|protein_coding|CODING|NM_001229.4|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe136Phe/c.408T>C|266|CASP9|protein_coding|CODING|NM_001278054.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe53Phe/c.159T>C|333|CASP9|protein_coding|CODING|NM_032996.3|2|1),intron_variant(MODIFIER|||n.523+130T>C||CASP9||CODING|NR_102733.1|2|1),non_coding_exon_variant(MODIFIER|||n.653T>C||CASP9||CODING|NR_102732.1|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4387,0.4986,0.5149,0.59,0.70,0.53,,,,,,,,,,,,,,,,
synonymous_variant,CASP9,SILENT,NM_001229.4:p.Ser31Ser/c.93C>T,agC/agT,LOW,COSM3750475(3),0.235623,0.0565,rs386594200,,,,,,chr1,15850603,15850603,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser31Ser/c.93C>T|416|CASP9|protein_coding|CODING|NM_001229.4|1|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser31Ser/c.93C>T|266|CASP9|protein_coding|CODING|NM_001278054.1|1|1),intron_variant(MODIFIER|||c.-118+475C>T|333|CASP9|protein_coding|CODING|NM_032996.3|1|1),non_coding_exon_variant(MODIFIER|||n.338C>T||CASP9||CODING|NR_102732.1|1|1),non_coding_exon_variant(MODIFIER|||n.338C>T||CASP9||CODING|NR_102733.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HeLa-S3:Ap2alpha,HUVEC:H3K4me3,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,HeLa-S3:Ap2gamma,H1ESC:H3K4me2,CD4:PolII,IMR90:H3K4me2,HepG2:TAF1,IMR90:DNase1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,GM12878:Sin3Ak20,HUVEC:DNase1",,,,0.1933,0.1873,0.2177,0.25,0.37,0.19,,,,,,,,,,,,,,,,
missense_variant,CASP9,MISSENSE,NM_001229.4:p.Ala28Val/c.83C>T,gCc/gTc,MODERATE,COSM3750476(9),0.584665,0.6538,rs1052571,0.4(T),"0.303,0.015,0.015(B,B,B)",1.95(M),-0.9870(T),,chr1,15850613,15850613,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala28Val/c.83C>T|416|CASP9|protein_coding|CODING|NM_001229.4|1|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala28Val/c.83C>T|266|CASP9|protein_coding|CODING|NM_001278054.1|1|1),intron_variant(MODIFIER|||c.-118+465C>T|333|CASP9|protein_coding|CODING|NM_032996.3|1|1),non_coding_exon_variant(MODIFIER|||n.328C>T||CASP9||CODING|NR_102732.1|1|1),non_coding_exon_variant(MODIFIER|||n.328C>T||CASP9||CODING|NR_102733.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HeLa-S3:Ap2alpha,HUVEC:H3K4me3,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,HeLa-S3:Ap2gamma,H1ESC:H3K4me2,CD4:PolII,IMR90:H3K4me2,HepG2:TAF1,IMR90:DNase1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,GM12878:Sin3Ak20,HUVEC:DNase1",,,,0.4376,0.4986,0.5149,,,,,0.808563(N),0.000(P),"1.97,1.97,1.97,1.97(T,T,T,T)",0.0000(T),0.21,2.836320,4.59,1.33,0.305000,0.500000,0.257000,0.713000,0.926000,0.277000,4.6003
synonymous_variant,AGMAT,SILENT,NM_024758.4:p.Ser254Ser/c.762G>A,tcG/tcA,LOW,COSM3750485(2),0.23742,0.0565,rs11544523,,,,,,chr1,15904318,15904318,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser254Ser/c.762G>A|352|AGMAT|protein_coding|CODING|NM_024758.4|5|1),"CD4:H2AZ,CD4:H2BK5ac,CD4:H3K4me1,CD4:H4K5ac,HepG2:H3K36me3,CD4:H4K8ac,CD4:H3K27ac",,,,0.1933,0.1873,0.2177,0.29,0.43,0.22,,,,,,,,,,,,,,,,
synonymous_variant,AGMAT,SILENT,NM_024758.4:p.Thr191Thr/c.573C>T,acC/acT,LOW,COSM1335380(1),0.0922524,0.0308,rs41270261,,,,,,chr1,15905501,15905501,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr191Thr/c.573C>T|352|AGMAT|protein_coding|CODING|NM_024758.4|4|1),"CD4:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,CD4:H3K4me1,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,CD4:H4K8ac,CD4:H2BK120ac,CD4:H3K27ac",,,,0.0971,0.1124,0.1421,0.12,0.09,0.14,,,,,,,,,,,,,,,,
missense_variant,AGMAT,MISSENSE,NM_024758.4:p.Arg140Gln/c.419G>A,cGa/cAa,MODERATE,COSM3750486(1),0.272364,0.0565,rs11580170,0.62(T),0.042(B),0.575(N),-0.9504(T),,chr1,15909744,15909744,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg140Gln/c.419G>A|352|AGMAT|protein_coding|CODING|NM_024758.4|2|1),HepG2:H3K36me3,,,,0.2035,0.2133,0.2326,0.34,0.52,0.25,,0.070839(N),0.610(P),-1.79(D),0.0000(T),0.067,0.792103,5.17,1.23,-0.457000,0.280000,0.542000,0.563000,0.431000,0.113000,8.4855
missense_variant,AGMAT,MISSENSE,NM_024758.4:p.Gly105Arg/c.313G>C,Ggg/Cgg,MODERATE,COSM3750487(1),0.633187,0.6359,rs6429757,1(T),0.001(B),-1.535(N),-0.9810(T),,chr1,15909850,15909850,C,G,het,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly105Arg/c.313G>C|352|AGMAT|protein_coding|CODING|NM_024758.4|2|1),HepG2:H3K36me3,,,,0.4499,0.5274,0.5288,0.65,0.85,0.55,,0.000001(N),0.020(P),-1.9(D),0.0000(T),0.044,-1.909524,5.13,-1.41,-0.986000,-0.321000,0.598000,0.138000,0.010000,0.997000,3.7841
synonymous_variant,DDI2,SILENT,NM_032341.4:p.Ala183Ala/c.549C>T,gcC/gcT,LOW,COSM3750496(1),0.250998,0.0317,rs3795763,,,,,,chr1,15959977,15959977,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala183Ala/c.549C>T|399|DDI2|protein_coding|CODING|NM_032341.4|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.2147,0.2176,0.2684,0.33,0.42,0.28,,,,,,,,,,,,,,,,
missense_variant,RSC1A1,MISSENSE,NM_006511.1:p.Phe62Leu/c.184T>C,Ttc/Ctc,MODERATE,COSM3750499(1),0.250799,0.0317,rs3766163,1(T),0.013(B),0.55(N),-0.9584(T),,chr1,15986547,15986547,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe62Leu/c.184T>C|617|RSC1A1|protein_coding|CODING|NM_006511.1|1|1),3_prime_UTR_variant(MODIFIER||3419|c.*262T>C|399|DDI2|protein_coding|CODING|NM_032341.4|10|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.2147,0.2176,0.2694,0.33,0.42,0.28,,0.027139(N),0.000(P),1.09(T),0.0000(T),0.12,-0.060682,5.61,4.48,0.459000,0.966000,1.411000,0.884000,1.000000,1.000000,8.289
missense_variant,PLEKHM2,MISSENSE,NM_015164.2:p.Ile32Thr/c.95T>C,aTc/aCc,MODERATE,COSM424333(1),0.323083,0.0367,rs12091750,1(T),0.0(B),-0.55(N),-0.9891(T),,chr1,16042766,16042766,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile32Thr/c.95T>C|1019|PLEKHM2|protein_coding|CODING|NM_015164.2|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.2014,0.2176,0.2445,0.38,0.65,0.25,,0.000000(N),1.000(P),"2.92,2.92(T,T)",0.0000(T),0.03,0.870134,6.07,5.15,-0.128000,0.900000,4.750000,0.994000,1.000000,1.000000,12.3717
synonymous_variant,PLEKHM2,SILENT,NM_015164.2:p.Leu97Leu/c.291G>A,ctG/ctA,LOW,,0.186102,0.0337,rs16851970,,,,,,chr1,16044401,16044401,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu97Leu/c.291G>A|1019|PLEKHM2|protein_coding|CODING|NM_015164.2|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.1186,0.1527,0.1889,0.23,0.30,0.19,,,,,,,,,,,,,,,,
synonymous_variant,TMEM82,SILENT,NM_001013641.2:p.Leu97Leu/c.291C>T,ctC/ctT,LOW,,0.185304,0.0337,rs11584945,,,,,,chr1,16069644,16069644,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu97Leu/c.291C>T|343|TMEM82|protein_coding|CODING|NM_001013641.2|3|1),downstream_gene_variant(MODIFIER||1760||304|SLC25A34|protein_coding|CODING|NM_207348.1||1)",K562:H3K27me3,,,,0.183,0.1744,0.2883,0.25,0.21,0.28,,,,,,,,,,,,,,,,
missense_variant,FBLIM1,MISSENSE,NM_001024215.1:p.Ser191Phe/c.572C>T,tCc/tTc,MODERATE,COSM3750523(1),0.642372,0.8284,rs10927851,0.73(T),"0.916,0.916,0.76(D,D,P)",1.125(L),-1.0811(T),,chr1,16096934,16096934,C,T,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser191Phe/c.572C>T|374|FBLIM1|protein_coding|CODING|NM_001024215.1|5|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser94Phe/c.281C>T|276|FBLIM1|protein_coding|CODING|NM_001024216.1|2|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser191Phe/c.572C>T|373|FBLIM1|protein_coding|CODING|NM_017556.2|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3",,,,0.7556,0.6931,0.6501,0.62,0.43,0.71,,0.059120(N),0.025(P),"0.93,0.93,0.93,0.93,0.93,0.93(T,T,T,T,T,T)",0.0000(T),0.335,4.080246,5.24,5.24,0.591000,2.618000,3.566000,0.994000,1.000000,1.000000,14.6067
missense_variant,SPEN,MISSENSE,NM_015001.2:p.Ala970Val/c.2909C>T,gCa/gTa,MODERATE,COSM3997038(3),0.120807,0.2222,rs848208,0.26(T),0.005(B),1.245(L),-1.0629(T),,chr1,16255644,16255644,C,T,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala970Val/c.2909C>T|3664|SPEN|protein_coding|CODING|NM_015001.2|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.09,0.2392,0.0984,0.08,0.04,0.10,,,1.000(P),0.65(T),0.0000(T),0.02,-1.261392,5.5,3.64,0.655000,0.889000,0.584000,0.004000,0.014000,0.000000,8.8436
missense_variant,SPEN,MISSENSE,NM_015001.2:p.Leu1091Pro/c.3272T>C,cTa/cCa,MODERATE,COSM4142934(1),0.648962,0.3214,rs848209,0.43(T),0.0(B),-0.665(N),-1.0295(T),,chr1,16256007,16256007,T,C,het,missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu1091Pro/c.3272T>C|3664|SPEN|protein_coding|CODING|NM_015001.2|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5941,0.7118,0.5577,0.69,0.91,0.58,,,1.000(P),3.2(T),0.0000(T),0.031,-1.056057,5.39,3.51,-0.128000,0.411000,1.031000,0.397000,0.520000,0.064000,11.1582
missense_variant,SPEN,MISSENSE,NM_015001.2:p.Asn2360Asp/c.7078A>G,Aac/Gac,MODERATE,COSM4142938(1),0.648962,0.3214,rs848210,0.63(T),0.0(B),-1.355(N),-1.0417(T),,chr1,16259813,16259813,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn2360Asp/c.7078A>G|3664|SPEN|protein_coding|CODING|NM_015001.2|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5941,0.7118,0.5577,0.69,0.91,0.58,,,1.000(P),3.13(T),0.0000(T),0.002,-0.225237,5.15,3.1,-0.355000,0.110000,2.198000,0.181000,0.003000,0.499000,7.596
synonymous_variant,SPEN,SILENT,NM_015001.2:p.Ala2727Ala/c.8181C>T,gcC/gcT,LOW,COSM3997039(1),0.121206,0.2232,rs386617255,,,,,,chr1,16260916,16260916,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2727Ala/c.8181C>T|3664|SPEN|protein_coding|CODING|NM_015001.2|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,GM12878:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.09,0.2406,0.0984,0.08,0.04,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SPEN,SILENT,NM_015001.2:p.Ser3223Ser/c.9669C>T,agC/agT,LOW,,0.121206,0.2242,rs61749277,,,,,,chr1,16262404,16262404,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser3223Ser/c.9669C>T|3664|SPEN|protein_coding|CODING|NM_015001.2|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.09,0.2392,0.0984,0.08,0.04,0.10,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB17,SILENT,NM_001287603.1:p.Ala207Ala/c.621T>C,gcT/gcC,LOW,COSM3930473(4),0.483027,0.3175,rs848217,,,,,,chr1,16272250,16272250,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala125Ala/c.375T>C|721|ZBTB17|protein_coding|CODING|NM_001242884.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala207Ala/c.621T>C|810|ZBTB17|protein_coding|CODING|NM_001287603.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala131Ala/c.393T>C|727|ZBTB17|protein_coding|CODING|NM_001287604.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala207Ala/c.621T>C|803|ZBTB17|protein_coding|CODING|NM_003443.2|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.544,0.6311,0.502,0.48,0.46,0.49,,,,,,,,,,,,,,,,
synonymous_variant,HSPB7,SILENT,NM_014424.4:p.Thr117Thr/c.351T>C,acT/acC,LOW,,0.652556,0.7639,rs1739840,,,,,,chr1,16342237,16342237,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr117Thr/c.351T>C|170|HSPB7|protein_coding|CODING|NM_014424.4|3|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6421,0.4582,0.5944,0.62,0.70,0.59,,,,,,,,,,,,,,,,
synonymous_variant,HSPB7,SILENT,NM_014424.4:p.Ala33Ala/c.99T>C,gcT/gcC,LOW,,0.648962,0.7639,rs732286,,,,,,chr1,16344360,16344360,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|170|HSPB7|protein_coding|CODING|NM_014424.4|1|1),"HSMM:DNase1,HSMM:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,H1ESC:DNase1,HepG2:H3K27me3,K562:DNase1,H1ESC:CTCF",,,,0.6421,0.4553,0.5934,0.62,0.68,0.59,,,,,,,,,,,,,,,,
synonymous_variant,HSPB7,SILENT,NM_014424.4:p.Ser19Ser/c.57C>T,tcC/tcT,LOW,COSM4142947(1),0.648962,0.7639,rs945416,,,,,,chr1,16344402,16344402,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser19Ser/c.57C>T|170|HSPB7|protein_coding|CODING|NM_014424.4|1|1),"HSMM:DNase1,HSMM:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,H1ESC:DNase1,HepG2:H3K27me3,K562:DNase1",,,,0.6421,0.4553,0.5934,0.62,0.68,0.58,,,,,,,,,,,,,,,,
missense_variant,CLCNKA,MISSENSE,NM_004070.3:p.Arg83Gly/c.247A>G,Agg/Ggg,MODERATE,COSM1737823(2),0.642971,0.7688,rs10927887,0.3(T),"0.0,0.0(B,B)",1.415(L),-0.9193(T),,chr1,16351275,16351275,A,G,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg83Gly/c.247A>G|686|CLCNKA|protein_coding|CODING|NM_001042704.1|4|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg83Gly/c.247A>G|687|CLCNKA|protein_coding|CODING|NM_004070.3|4|1),intron_variant(MODIFIER|||c.229+852A>G|644|CLCNKA|protein_coding|CODING|NM_001257139.1|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.6299,0.4467,0.5636,0.60,0.70,0.55,,0.728172(N),0.990(P),"-3.05,-3.05,-3.05(D,D,D)",0.0000(T),0.056,0.068461,4.0,0.872,-1.325000,-0.153000,0.593000,0.505000,0.991000,0.847000,7.3212
missense_variant,CLCNKA,MISSENSE,NM_004070.3:p.Ala447Thr/c.1339G>A,Gcc/Acc,MODERATE,COSM3747578(4),0.648562,0.7669,rs1805152,0.17(T),"0.005,0.008,0.008(B,B,B)",1.075(L),-0.9382(T),,chr1,16356501,16356501,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala447Thr/c.1339G>A|686|CLCNKA|protein_coding|CODING|NM_001042704.1|14|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala404Thr/c.1210G>A|644|CLCNKA|protein_coding|CODING|NM_001257139.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala447Thr/c.1339G>A|687|CLCNKA|protein_coding|CODING|NM_004070.3|14|1)","GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6268,0.4467,0.5577,0.60,0.71,0.54,,0.019415(N),0.984(P),"-3.11,-3.11,-3.11,-3.11(D,D,D,D)",0.0000(T),0.057,0.249091,3.3,0.33,-1.745000,0.223000,0.055000,0.113000,0.447000,0.005000,5.6763
missense_variant,CLCNKB,MISSENSE,NM_000085.4:p.Arg27Leu/c.80G>T,cGc/cTc,MODERATE,COSM3750546(1),0.555511,0.6498,rs2015352,0.22(T),0.162(B),2.14(M),-0.9027(T),,chr1,16371067,16371067,G,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg27Leu/c.80G>T|687|CLCNKB|protein_coding|CODING|NM_000085.4|2|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6646,0.6916,0.6561,0.53,0.30,0.64,,0.093508(N),0.000(P),-1.92(D),0.0000(T),0.16,2.470803,4.08,3.16,0.462000,0.817000,-0.467000,0.988000,0.994000,0.000000,6.1466
synonymous_variant,CLCNKB,SILENT,NM_000085.4:p.Ser108Ser/c.324A>G,tcA/tcG,LOW,,0.740415,0.9881,rs5257,,,,,,chr1,16373124,16373124,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser108Ser/c.324A>G|687|CLCNKB|protein_coding|CODING|NM_000085.4|4|1),"GM06990:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8896,0.8487,0.832,0.67,0.40,0.81,,,,,,,,,,,,,,,,
synonymous_variant,CLCNKB,SILENT,NM_000085.4:p.Gly164Gly/c.492G>C,ggG/ggC,LOW,,0.89397,0.999,rs2014562,,,,,,chr1,16374533,16374533,G,C,hom,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly164Gly/c.492G>C|687|CLCNKB|protein_coding|CODING|NM_000085.4|5|1),upstream_gene_variant(MODIFIER||724||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9417,0.9337,0.9394,0.88,0.77,0.94,,,,,,,,,,,,,,,,
missense_variant,CLCNKB,MISSENSE,NM_000085.4:p.Ala214Gly/c.641C>G,gCa/gGa,MODERATE,,0.827276,0.998,rs1889789,0.54(T),0.0(B),-1.365(N),-0.9240(T),,chr1,16375063,16375063,C,G,hom,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala214Gly/c.641C>G|687|CLCNKB|protein_coding|CODING|NM_000085.4|7|1),upstream_gene_variant(MODIFIER||194||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","K562:ZBTB7A,K562:H3K4me3,HMEC:H3K27me3,K562:PolII,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:DNase1,H1ESC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3,H1ESC:H3K4me3,K562:DNase1,HUVEC:DNase1",,,,0.9407,0.9006,0.9264,,,,,0.000707(N),0.029(P),-2.79(D),0.0000(T),0.177,-1.124289,4.67,2.71,-0.782000,0.068000,-0.037000,0.425000,0.003000,0.004000,10.1298
synonymous_variant,CLCNKB,SILENT,NM_000085.4:p.Ala214Ala/c.642A>C,gcA/gcC,LOW,,0.827276,0.998,rs1889790,,,,,,chr1,16375064,16375064,A,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala214Ala/c.642A>C|687|CLCNKB|protein_coding|CODING|NM_000085.4|7|1),upstream_gene_variant(MODIFIER||193||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","K562:ZBTB7A,K562:H3K4me3,HMEC:H3K27me3,K562:PolII,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:DNase1,H1ESC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3,H1ESC:H3K4me3,K562:DNase1,HUVEC:DNase1",,,,0.9407,0.9006,0.9264,,,,,,,,,,,,,,,,,,,
missense_variant,CLCNKB,MISSENSE,NM_000085.4:p.Ala287Val/c.860C>T,gCg/gTg,MODERATE,COSM4142953(2),0.829872,0.998,rs7367494,0.52(T),"0.004,0.006(B,B)",0.695(N),-0.9721(T),,chr1,16376191,16376191,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala287Val/c.860C>T|687|CLCNKB|protein_coding|CODING|NM_000085.4|9|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala118Val/c.353C>T|517|CLCNKB|protein_coding|CODING|NM_001165945.2|2|1)","HMEC:H3K27me3,GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9417,0.9107,0.9384,,,,,0.649676(N),1.000(P),"-3.17,-3.17(D,D)",0.0000(T),0.064,-1.386747,4.27,-6.48,-1.206000,-1.876000,-0.335000,0.011000,0.000000,0.000000,14.8194
synonymous_variant,CLCNKB,SILENT,NM_000085.4:p.Cys292Cys/c.876T>C,tgT/tgC,LOW,COSM4142955(1),0.830072,0.999,rs7368151,,,,,,chr1,16376319,16376319,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys292Cys/c.876T>C|687|CLCNKB|protein_coding|CODING|NM_000085.4|10|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys123Cys/c.369T>C|517|CLCNKB|protein_coding|CODING|NM_001165945.2|3|1)","HMEC:H3K27me3,GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9417,0.9107,0.9384,0.82,0.58,0.94,,,,,,,,,,,,,,,,
missense_variant,CLCNKB,MISSENSE,NM_000085.4:p.Met562Thr/c.1685T>C,aTg/aCg,MODERATE,,0.838259,0.8353,rs5253,0.44(T),"0.003,0.0(B,B)",-1.56(N),-0.9828(T),,chr1,16380196,16380196,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met562Thr/c.1685T>C|687|CLCNKB|protein_coding|CODING|NM_000085.4|16|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met393Thr/c.1178T>C|517|CLCNKB|protein_coding|CODING|NM_001165945.2|9|1)","NHEK:H3K27me3,K562:H3K27ac,K562:H3K4me1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.91,0.9179,0.9692,0.89,0.70,0.98,,0.986258(N),1.000(P),"-3.01,-3.01,-2.2(D,D,D)",0.0000(T),0.164,-2.118749,4.59,-3.73,-1.860000,-1.098000,-0.923000,0.397000,0.001000,0.000000,7.1107
missense_variant,CLCNKB,MISSENSE,NM_000085.4:p.Lys578Glu/c.1732A>G,Aag/Gag,MODERATE,,0.701677,0.8056,rs2275166,0.46(T),"0.001,0.0(B,B)",-1.175(N),-0.9360(T),,chr1,16380243,16380243,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys578Glu/c.1732A>G|687|CLCNKB|protein_coding|CODING|NM_000085.4|16|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys409Glu/c.1225A>G|517|CLCNKB|protein_coding|CODING|NM_001165945.2|9|1)","NHEK:H3K27me3,K562:H3K27ac,K562:H3K4me1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6186,0.5519,0.6262,0.70,0.80,0.65,,0.034065(N),1.000(P),"-3.2,-3.2,-2.28(D,D,D)",0.0000(T),0.17,-0.774522,4.59,1.41,-0.133000,-0.094000,0.853000,0.866000,0.159000,0.654000,5.3044
synonymous_variant,CLCNKB,SILENT,NM_000085.4:p.Leu581Leu/c.1741C>T,Ctg/Ttg,LOW,,0.613618,0.8016,rs2275167,,,,,,chr1,16380252,16380252,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu581Leu/c.1741C>T|687|CLCNKB|protein_coding|CODING|NM_000085.4|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu412Leu/c.1234C>T|517|CLCNKB|protein_coding|CODING|NM_001165945.2|9|1)","NHEK:H3K27me3,K562:H3K27ac,K562:H3K4me1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5562,0.5,0.6123,0.61,0.58,0.63,,,,,,,,,,,,,,,,
synonymous_variant,FAM131C,SILENT,NM_182623.2:p.Leu263Leu/c.789C>A,ctC/ctA,LOW,COSM1335875(1),,,rs28496958,,,,,,chr1,16384986,16384986,G,T,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu263Leu/c.789C>A|280|FAM131C|protein_coding|CODING|NM_182623.2|7|1),downstream_gene_variant(MODIFIER||1165||687|CLCNKB|protein_coding|CODING|NM_000085.4||1),downstream_gene_variant(MODIFIER||1165||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM131C,SILENT,NM_182623.2:p.Pro259Pro/c.777C>G,ccC/ccG,LOW,COSM1601158(3),0.376797,0.4315,rs1807285,,,,,,chr1,16384998,16384998,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro259Pro/c.777C>G|280|FAM131C|protein_coding|CODING|NM_182623.2|7|1),downstream_gene_variant(MODIFIER||1177||687|CLCNKB|protein_coding|CODING|NM_000085.4||1),downstream_gene_variant(MODIFIER||1177||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3957,0.2795,0.336,,,,,,,,,,,,,,,,,,,
missense_variant,FAM131C,MISSENSE,NM_182623.2:p.Pro259Leu/c.776C>T,cCc/cTc,MODERATE,COSM1601159(3),0.376797,0.4315,rs1807284,1(T),0.0(B),-1.085(N),-0.9381(T),,chr1,16384999,16384999,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro259Leu/c.776C>T|280|FAM131C|protein_coding|CODING|NM_182623.2|7|1),downstream_gene_variant(MODIFIER||1178||687|CLCNKB|protein_coding|CODING|NM_000085.4||1),downstream_gene_variant(MODIFIER||1178||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3957,0.2795,0.336,,,,,0.215578(N),1.000(N),2.74(T),0.0000(T),0.112,-2.029401,4.65,-2.16,-1.271000,-1.034000,-0.041000,0.000000,0.000000,0.000000,10.8536
missense_variant,FAM131C,MISSENSE,NM_182623.2:p.Arg245Trp/c.733C>T,Cgg/Tgg,MODERATE,COSM1733522(1),,,rs77667563,0.06(T),0.528(P),0(N),-0.9907(T),,chr1,16385042,16385042,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg245Trp/c.733C>T|280|FAM131C|protein_coding|CODING|NM_182623.2|7|1),downstream_gene_variant(MODIFIER||1221||687|CLCNKB|protein_coding|CODING|NM_000085.4||1),downstream_gene_variant(MODIFIER||1221||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.005214(N),1.000(P),2.42(T),0.0000(T),0.133,1.771185,4.8,-0.971,0.549000,-0.172000,-0.080000,0.008000,0.000000,0.000000,4.4045
synonymous_variant,FAM131C,SILENT,NM_182623.2:p.Ser200Ser/c.600C>T,agC/agT,LOW,COSM3930477(1),,,rs17853748,,,,,,chr1,16385175,16385175,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser200Ser/c.600C>T|280|FAM131C|protein_coding|CODING|NM_182623.2|7|1),downstream_gene_variant(MODIFIER||1354||687|CLCNKB|protein_coding|CODING|NM_000085.4||1),downstream_gene_variant(MODIFIER||1354||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM131C,SILENT,NM_182623.2:p.Ser197Ser/c.591C>T,agC/agT,LOW,COSM530219(4),,,rs75273615,,,,,,chr1,16385184,16385184,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser197Ser/c.591C>T|280|FAM131C|protein_coding|CODING|NM_182623.2|7|1),downstream_gene_variant(MODIFIER||1363||687|CLCNKB|protein_coding|CODING|NM_000085.4||1),downstream_gene_variant(MODIFIER||1363||517|CLCNKB|protein_coding|CODING|NM_001165945.2||1)","HMEC:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM131C,SILENT,NM_182623.2:p.Gln181Gln/c.543A>G,caA/caG,LOW,COSM3773440(3),0.721645,0.8343,rs2863452,,,,,,chr1,16386008,16386008,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln181Gln/c.543A>G|280|FAM131C|protein_coding|CODING|NM_182623.2|6|1),"HMEC:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.817,0.7709,0.7654,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM131C,SILENT,NM_182623.2:p.Asp133Asp/c.399C>T,gaC/gaT,LOW,COSM424446(1),0.710463,0.8155,rs9442230,,,,,,chr1,16386416,16386416,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp133Asp/c.399C>T|280|FAM131C|protein_coding|CODING|NM_182623.2|5|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8139,0.768,0.7584,0.69,0.54,0.76,,,,,,,,,,,,,,,,
missense_variant,FAM131C,MISSENSE,NM_182623.2:p.Pro123Arg/c.368C>G,cCg/cGg,MODERATE,COSM3802682(4),0.915935,0.8185,rs11576236,0.74(T),0.0(B),-1.265(N),-1.0232(T),,chr1,16386447,16386447,G,C,hom,missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro123Arg/c.368C>G|280|FAM131C|protein_coding|CODING|NM_182623.2|5|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9018,0.9337,0.9662,,,,,0.665717(N),1.000(P),1.61(T),0.0000(T),0.068,-1.007094,4.72,-1.32,-1.020000,-0.406000,-0.952000,0.507000,0.001000,0.000000,6.6094
missense_variant,FAM131C,MISSENSE,NM_182623.2:p.Arg107Gln/c.320G>A,cGa/cAa,MODERATE,COSM4142958(3),0.396965,0.7966,rs71510977,1(T),0.997(D),0.735(N),-1.1191(T),,chr1,16386495,16386495,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg107Gln/c.320G>A|280|FAM131C|protein_coding|CODING|NM_182623.2|5|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4407,0.3458,0.4374,,,,,0.001350(N),0.060(P),2.77(T),0.0395(T),0.265,2.962395,4.94,4.94,0.549000,2.318000,2.742000,0.994000,0.581000,0.993000,13.7326
synonymous_variant,FAM131C,SILENT,NM_182623.2:p.Arg72Arg/c.216A>G,agA/agG,LOW,COSM3930479(2),0.816693,0.8304,rs2863456,,,,,,chr1,16388646,16388646,T,C,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg72Arg/c.216A>G|280|FAM131C|protein_coding|CODING|NM_182623.2|4|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.8497,0.8588,0.8738,0.82,0.72,0.87,,,,,,,,,,,,,,,,
missense_variant,FAM131C,MISSENSE,NM_182623.2:p.Lys48Glu/c.142A>G,Aaa/Gaa,MODERATE,COSM3750548(3),0.298323,0.0188,rs2863458,0.1(T),0.54(P),1.78(L),-0.9031(T),,chr1,16389026,16389026,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys48Glu/c.142A>G|280|FAM131C|protein_coding|CODING|NM_182623.2|3|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.319,0.4207,0.3121,0.31,0.37,0.28,,0.000005(D),0.564(P),2.37(T),0.0000(T),0.213,3.763043,5.07,3.9,0.459000,0.733000,2.546000,0.985000,1.000000,1.000000,8.7891
synonymous_variant,EPHA2,SILENT,NM_004431.3:p.Ile958Ile/c.2874C>T,atC/atT,LOW,COSM4142961(2),0.236621,0.1548,rs3754334,,,,,,chr1,16451767,16451767,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile958Ile/c.2874C>T|976|EPHA2|protein_coding|CODING|NM_004431.3|17|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3",,,,0.3507,0.3141,0.3161,0.23,0.12,0.28,,,,,,,,,,,,,,,,
synonymous_variant,EPHA2,SILENT,NM_004431.3:p.Thr647Thr/c.1941G>T,acG/acT,LOW,,0.00698882,0,rs56043737,,,,,,chr1,16459787,16459787,C,A,het,synonymous_variant(LOW|SILENT|acG/acT|p.Thr647Thr/c.1941G>T|976|EPHA2|protein_coding|CODING|NM_004431.3|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,NHEK:DNase1",,,,0,0.0144,0.0249,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,EPHA2,SILENT,NM_004431.3:p.Pro329Pro/c.987C>T,ccC/ccT,LOW,COSM3749009(4),0.349441,0.1458,rs2230597,,,,,,chr1,16464673,16464673,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro329Pro/c.987C>T|976|EPHA2|protein_coding|CODING|NM_004431.3|5|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3",,,,0.4417,0.4294,0.4215,0.39,0.36,0.40,,,,,,,,,,,,,,,,
synonymous_variant,EPHA2,SILENT,NM_004431.3:p.Leu191Leu/c.573G>A,ctG/ctA,LOW,,0.226438,0.0308,rs6678616,,,,,,chr1,16475123,16475123,C,T,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu191Leu/c.573G>A|976|EPHA2|protein_coding|CODING|NM_004431.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,HepG2:DNase1,NHEK:DNase1",,,,0.2986,0.366,0.3618,0.28,0.17,0.35,,,,,,,,,,,,,,,,
synonymous_variant,EPHA2,SILENT,NM_004431.3:p.Ala190Ala/c.570G>A,gcG/gcA,LOW,COSM1178394(1),0.226637,0.0308,rs6678618,,,,,,chr1,16475126,16475126,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala190Ala/c.570G>A|976|EPHA2|protein_coding|CODING|NM_004431.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,HepG2:DNase1,NHEK:DNase1",,,,0.2996,0.366,0.3618,0.28,0.17,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ARHGEF19,SILENT,NM_153213.3:p.Ser390Ser/c.1170C>T,tcC/tcT,LOW,,0.26877,0.1518,rs221050,,,,-1.0840(T),,chr1,16532803,16532803,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser390Ser/c.1170C>T|802|ARHGEF19|protein_coding|CODING|NM_153213.3|7|1),"IMR90:H3K4ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H2BK5me1,K562:E2F6,K562:PolII,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,K562:H3K9ac,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,HeLa-S3:H3K27ac,HUVEC:H3K4me3,HepG2:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,H1ESC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM06990:H3K4me3,IMR90:H4K8ac,HUVEC:DNase1",,,,0.4233,0.4049,0.2654,0.23,0.18,0.25,,,0.000(P),,0.0000(T),.,1.571221,4.85,-9.7,0.555000,-2.358000,-1.891000,0.995000,0.630000,0.005000,12.7933
missense_variant,ARHGEF19,MISSENSE,NM_153213.3:p.Glu238Gln/c.712G>C,Gag/Cag,MODERATE,COSM3747579(2),0.266973,0.1528,rs221057,0.5(T),0.018(B),1.59(L),-1.0973(T),,chr1,16534255,16534255,C,G,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu238Gln/c.712G>C|802|ARHGEF19|protein_coding|CODING|NM_153213.3|4|1),"K562:H3K4me3,K562:PolII,NHEK:H3K4me3,HeLa-S3:PolII,K562:H3K9ac,K562:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,H1ESC:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me3,H1ESC:DNase1,HepG2:H3K27me3,K562:H3K4me2,H1ESC:H3K4me3",,,,0.4233,0.4063,0.2654,0.23,0.18,0.26,,0.000785(N),0.975(P),"-0.58,1.81(T,T)",0.0000(T),0.045,3.874660,4.94,4.94,0.549000,2.316000,3.812000,0.043000,0.474000,0.961000,13.8258
missense_variant,ARHGEF19,MISSENSE,NM_153213.3:p.Gly163Arg/c.487G>C,Ggc/Cgc,MODERATE,COSM1335927(2),0.24401,0.1528,rs221058,0.28(T),0.011(B),0.975(L),-0.9954(T),,chr1,16534646,16534646,C,G,het,missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly163Arg/c.487G>C|802|ARHGEF19|protein_coding|CODING|NM_153213.3|3|1),"HeLa-S3:DNase1,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.4223,0.3948,0.2654,0.21,0.10,0.26,,0.615075(N),0.998(P),"0.76,0.76(T,T)",0.0000(T),0.087,1.459937,5.21,2.13,0.561000,0.220000,0.673000,0.118000,0.967000,0.296000,6.6718
missense_variant,FBXO42,MISSENSE,NM_018994.1:p.Pro471Ala/c.1411C>G,Cct/Gct,MODERATE,COSM3747581(1),0.270767,0.1746,rs12069239,0.61(T),0.0(B),0(N),-0.9195(T),,chr1,16577908,16577908,G,C,het,missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro471Ala/c.1411C>G|717|FBXO42|protein_coding|CODING|NM_018994.1|10|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.2133,0.334,0.38,0.42,0.36,,0.322664(N),1.000(P),"3.68,1.08,1.08(T,T,T)",0.0000(T),0.098,0.061879,5.51,0.736,-0.127000,-0.343000,0.097000,0.989000,0.937000,0.013000,1.5643
synonymous_variant,FBXO42,SILENT,NM_018994.1:p.Ser5Ser/c.15G>A,tcG/tcA,LOW,,0.357428,0.6786,rs2273311,,,,,,chr1,16641899,16641899,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser5Ser/c.15G>A|717|FBXO42|protein_coding|CODING|NM_018994.1|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.3926,0.3372,0.4235,0.30,0.12,0.40,,,,,,,,,,,,,,,,
missense_variant,SPATA21,MISSENSE,NM_198546.1:p.His305Gln/c.915C>A,caC/caA,MODERATE,COSM146418(1),0.0511182,0.0685,rs41269193,0.28(T),"0.074,0.034(B,B)",0.69(N),-1.1005(T),,chr1,16730308,16730308,G,T,het,missense_variant(MODERATE|MISSENSE|caC/caA|p.His305Gln/c.915C>A|469|SPATA21|protein_coding|CODING|NM_198546.1|10|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0593,0.0677,0.0736,0.05,0.01,0.07,,0.979693(N),0.983(N),"1.03,0.0,-0.0(T,T,T)",0.0083(T),0.05,1.054863,4.84,-4.0,-0.410000,-0.546000,-0.795000,0.924000,0.360000,0.084000,8.3285
missense_variant,SPATA21,MISSENSE,NM_198546.1:p.Gln184Arg/c.551A>G,cAg/cGg,MODERATE,,0.152756,0.1726,rs4661746,0.18(T),"0.023,0.01(B,B)",0.805(L),-1.0441(T),,chr1,16736132,16736132,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln184Arg/c.551A>G|469|SPATA21|protein_coding|CODING|NM_198546.1|6|1),"HepG2:H3K4me2,HepG2:H3K4me3",,,,0.138,0.1686,0.3161,0.24,0.06,0.33,,0.283261(N),1.000(P),"-0.17,-0.15(T,T)",0.0000(T),0.047,0.891646,4.03,-1.76,0.358000,-0.066000,-0.374000,0.036000,0.001000,0.000000,2.3344
splice_acceptor_variant,CROCCP2,,NR_026752.1:n.724A>G,,HIGH,,,,rs437905,,,,,,chr1,16946535,16946535,T,C,het,"splice_acceptor_variant(HIGH|||n.724A>G||CROCCP2||NON_CODING|NR_026752.1|6|1),intron_variant(MODIFIER|||n.724-2A>G||CROCCP2||NON_CODING|NR_026752.1|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,GM06990:H3K36me3,H1ESC:CTCF,HUVEC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Phe672Cys/c.2015T>G,tTc/tGc,MODERATE,COSM1317626(2),,,rs200844502,0(D),"0.999,1.0(D,D)",,-0.5019(T),,chr1,17083782,17083782,A,C,het,missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe672Cys/c.2015T>G|689|MST1L|protein_coding|CODING|NM_001271733.1|15|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,K562:Znf263,NH-A:H3K27me3",,,,,,,,,,,0.000459(D),,,0.2681(T),0.426,1.948793,.,.,0.000000,0.419000,3.843000,0.000000,0.928000,1.000000,5.2253
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Thr664Ala/c.1990A>G,Aca/Gca,MODERATE,COSM1499802(1),0.689696,0.8819,rs9286084,1(T),"0.0,0.0(B,B)",,-0.9777(T),,chr1,17083807,17083807,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr664Ala/c.1990A>G|689|MST1L|protein_coding|CODING|NM_001271733.1|15|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3,K562:Znf263,NH-A:H3K27me3",,,,0.6472,0.7435,0.6789,,,,,0.000789(N),,,0.0340(T),0.186,-1.494189,.,.,0.000000,-0.406000,3.203000,0.000000,0.810000,1.000000,4.4522
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Lys654Glu/c.1960A>G,Aaa/Gaa,MODERATE,COSM424562(3),0.158946,0.0139,rs7798,0.85(T),"0.0,0.0(B,B)",,-0.9932(T),,chr1,17083837,17083837,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys654Glu/c.1960A>G|689|MST1L|protein_coding|CODING|NM_001271733.1|15|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3,K562:Znf263,NH-A:H3K27me3",,,,0.1084,0.147,0.1183,,,,,0.096033(N),,,0.0373(T),0.185,0.113916,.,.,0.000000,-0.406000,2.244000,0.000000,0.916000,1.000000,4.4522
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Gly637Ser/c.1909G>A,Ggt/Agt,MODERATE,COSM3802806(1),,,rs75141545,0.02(D),"0.993,0.998(D,D)",,-0.4502(T),,chr1,17083888,17083888,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly637Ser/c.1909G>A|689|MST1L|protein_coding|CODING|NM_001271733.1|15|1),splice_region_variant(LOW|||c.1909G>A|689|MST1L|protein_coding|CODING|NM_001271733.1|15|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3,K562:Znf263,NH-A:H3K27me3,K562:DNase1",,,,,,,,,,,0.000618(D),,,0.2755(T),0.314,2.028492,.,.,0.000000,0.502000,2.280000,0.000000,0.948000,1.000000,6.7402
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Arg619Trp/c.1855C>T,Cgg/Tgg,MODERATE,COSM424563(2),,,rs201206414,0.02(D),"0.888,0.935(P,D)",,-0.9080(T),,chr1,17084066,17084066,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg619Trp/c.1855C>T|689|MST1L|protein_coding|CODING|NM_001271733.1|14|1),"NHEK:CTCF,H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,K562:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,H1ESC:DNase1,GM06990:H3K36me3,HepG2:PolII,K562:Znf263,NH-A:H3K27me3,K562:DNase1,H1ESC:CTCF,GM12878:CTCF",,,,,,,,,,,0.763598(N),,,0.1873(T),0.356,2.032090,.,.,0.000000,0.502000,0.941000,0.000000,0.403000,1.000000,2.9647
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Arg503Gly/c.1507C>G,Cgg/Ggg,MODERATE,COSM1127275(2),,,rs2761533,0.01(D),"0.146,0.908(B,P)",,-0.6133(T),,chr1,17084968,17084968,G,C,het,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg503Gly/c.1507C>G|689|MST1L|protein_coding|CODING|NM_001271733.1|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,H1ESC:DNase1,GM06990:H3K36me3,HepG2:PolII,NH-A:H3K27me3",,,,,,,,,,,0.001564(N),,,0.2341(T),0.457,1.661479,.,.,0.000000,-0.000000,1.873000,0.000000,0.000000,1.000000,4.8114
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Ala427Thr/c.1279G>A,Gca/Aca,MODERATE,COSM3747587(1),0.459864,0.4554,rs872964,0.14(T),0.009(B),,-1.0430(T),,chr1,17085412,17085412,C,T,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala427Thr/c.1279G>A|689|MST1L|protein_coding|CODING|NM_001271733.1|10|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,H1ESC:H3K4me1,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,H1ESC:DNase1,GM06990:H3K36me3,H1ESC:H3K4me3,NH-A:H3K27me3",,,,0.4755,0.4654,0.4175,,,,,0.013097(N),,,0.0748(T),0.104,0.846385,.,.,0.000000,-0.000000,-0.949000,0.000000,0.000000,0.516000,.
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Met397Val/c.1189A>G,Atg/Gtg,MODERATE,COSM3747588(1),,,rs2329006,,0.015(B),,-1.0267(T),,chr1,17085502,17085502,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met397Val/c.1189A>G|689|MST1L|protein_coding|CODING|NM_001271733.1|10|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,H1ESC:H3K4me1,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,H1ESC:DNase1,GM06990:H3K36me3,K562:SETDB1,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1",,,,,,,,,,,,,,0.0507(T),0.11,-1.918343,.,.,0.000000,0.000000,-0.455000,0.000000,0.000000,0.565000,4.4758
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Leu386Pro/c.1157T>C,cTg/cCg,MODERATE,,,,rs3851921,0.4(T),0.003(B),,-1.0611(T),,chr1,17085564,17085564,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu386Pro/c.1157T>C|689|MST1L|protein_coding|CODING|NM_001271733.1|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,H1ESC:H3K4me1,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,H1ESC:DNase1,GM06990:H3K36me3,K562:SETDB1,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1",,,,,,,,,,,0.000802(N),,,0.0615(T),0.19,-0.489562,.,.,0.000000,-0.000000,2.886000,0.000000,0.000000,1.000000,4.4758
synonymous_variant,MST1L,SILENT,NM_001271733.1:p.Thr329Thr/c.987C>A,acC/acA,LOW,COSM3747589(1),,,rs2005622,,,,,,chr1,17085834,17085834,G,T,hom,synonymous_variant(LOW|SILENT|acC/acA|p.Thr329Thr/c.987C>A|689|MST1L|protein_coding|CODING|NM_001271733.1|8|1),"CD4:H2AZ,H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,H1ESC:DNase1,GM06990:H3K36me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.His282Arg/c.845A>G,cAc/cGc,MODERATE,,0.994808,0.999,rs1057286,0.28(T),0.001(B),,-1.0540(T),,chr1,17086052,17086052,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His282Arg/c.845A>G|689|MST1L|protein_coding|CODING|NM_001271733.1|7|1),"H1ESC:PolII,CD4:H2AZ,H1ESC:H3K36me3,HMEC:H3K27me3,CD4:H3K18ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,NHEK:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:H3K4ac,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,CD4:H3K4me2,CD4:H2BK120ac,H1ESC:DNase1,CD4:H3K4me3,GM06990:H3K36me3,NHEK:DNase1,K562:SETDB1,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1,H1ESC:CTCF",,,,0.9939,0.9928,0.9871,,,,,0.000678(N),,,0.0000(T),0.097,-0.140450,.,.,0.000000,0.000000,-0.028000,0.000000,0.000000,0.989000,2.1243
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Glu108Lys/c.322G>A,Gag/Aag,MODERATE,COSM1499796(1),,,rs2926375,1(T),0.001(B),,-1.0135(T),,chr1,17087262,17087262,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu108Lys/c.322G>A|689|MST1L|protein_coding|CODING|NM_001271733.1|3|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,,,,,,,,0.000477(N),,,0.0259(T),0.315,-1.553339,.,.,0.000000,-0.000000,2.272000,0.000000,0.000000,1.000000,1.4156
synonymous_variant,MST1L,SILENT,NM_001271733.1:p.Ser95Ser/c.285A>G,tcA/tcG,LOW,,,,rs2179162,,,,,,chr1,17087299,17087299,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser95Ser/c.285A>G|689|MST1L|protein_coding|CODING|NM_001271733.1|3|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MST1L,SILENT,NM_001271733.1:p.Ala73Ala/c.219G>C,gcG/gcC,LOW,,,,rs2446556,,,,,,chr1,17087365,17087365,C,G,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala73Ala/c.219G>C|689|MST1L|protein_coding|CODING|NM_001271733.1|3|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HSMM:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,NH-A:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MST1L,MISSENSE,NM_001271733.1:p.Pro67Leu/c.200C>T,cCc/cTc,MODERATE,,,,rs11260924,0.34(T),0.009(B),,-1.0427(T),,chr1,17087465,17087465,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro67Leu/c.200C>T|689|MST1L|protein_coding|CODING|NM_001271733.1|2|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HMEC:H3K27me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HSMM:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,HepG2:PolII,NH-A:H3K27me3",,,,,,,,,,,0.155175(N),,,0.0681(T),0.193,-0.424959,.,.,0.000000,-0.000000,-0.121000,0.000000,0.000000,0.000000,5.3027
missense_variant,CROCC,MISSENSE,NM_014675.4:p.Arg7Gly/c.19A>G,Agg/Ggg,MODERATE,,1,1,rs6586566,1(T),0.0(B),0(N),-0.9815(T),,chr1,17248532,17248532,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg7Gly/c.19A>G|2017|CROCC|protein_coding|CODING|NM_014675.4|1|1),"K562:USF1,H1ESC:PolII,H1ESC:USF1,CD4:H3K18ac,GM06990:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,H1ESC:H3K4me2,H1ESC:DNase1,NHEK:DNase1,H1ESC:H3K4me3,HUVEC:DNase1",,,,1,1,1,,,,,,1.000(P),3.03(T),0.0000(T),0.01,-1.471935,4.34,0.306,-0.994000,-0.363000,0.002000,0.349000,0.000000,0.005000,4.3514
missense_variant,CROCC,MISSENSE,NM_014675.4:p.Ala439Val/c.1316C>T,gCg/gTg,MODERATE,COSM1127264(3),,,rs4463721,0.63(T),"0.002,0.003,0.135(B,B,B)",1.285(L),-0.9028(T),,chr1,17264920,17264920,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala439Val/c.1316C>T|2017|CROCC|protein_coding|CODING|NM_014675.4|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,0.992(N),2.68(T),0.0000(T),0.188,1.997905,4.81,4.81,0.561000,2.374000,-0.113000,0.666000,0.535000,0.006000,10.9447
synonymous_variant,CROCC,SILENT,NM_014675.4:p.Asp445Asp/c.1335T>C,gaT/gaC,LOW,COSM1127263(3),,,rs4558023,,,,,,chr1,17264939,17264939,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp445Asp/c.1335T>C|2017|CROCC|protein_coding|CODING|NM_014675.4|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3,HUVEC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CROCC,MISSENSE,NM_014675.4:p.Pro511Ser/c.1531C>T,Ccc/Tcc,MODERATE,COSM424610(10),,,rs9435793,0.81(T),"0.013,0.002,0.367(B,B,B)",0.695(N),-0.9575(T),,chr1,17265560,17265560,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro511Ser/c.1531C>T|2017|CROCC|protein_coding|CODING|NM_014675.4|12|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:DNase1",,,,,,,,,,,,0.888(N),3.0(T),0.0000(T),0.196,1.532985,5.39,4.42,0.561000,2.702000,1.779000,0.963000,1.000000,0.959000,8.3381
missense_variant,CROCC,MISSENSE,NM_014675.4:p.Asp586His/c.1756G>C,Gac/Cac,MODERATE,COSM1747941(10),,,rs9435714,0.09(T),"0.964,0.974,0.874(D,D,P)",2.36(M),-0.9546(T),,chr1,17266536,17266536,G,C,het,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp586His/c.1756G>C|2017|CROCC|protein_coding|CODING|NM_014675.4|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,0.990(D),2.82(T),0.0000(T),0.531,2.782176,4.99,4.08,0.561000,1.432000,5.471000,0.609000,0.992000,1.000000,11.8785
missense_variant,CROCC,MISSENSE,NM_014675.4:p.Val1110Met/c.3328G>A,Gtg/Atg,MODERATE,COSM3750604(1),0.0393371,0.001,rs41272737,0.1(T),"0.024,0.015(B,B)",1.04(L),-1.0525(T),,chr1,17281235,17281235,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1110Met/c.3328G>A|2017|CROCC|protein_coding|CODING|NM_014675.4|23|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0112,0.0159,0.0477,0.06,0.07,0.05,,,1.000(N),0.66(T),0.0050(T),0.048,1.201238,4.4,-0.213,0.561000,0.083000,-0.177000,0.551000,0.986000,0.001000,0.892
missense_variant,CROCC,MISSENSE,NM_014675.4:p.Gly1471Arg/c.4411G>A,Ggg/Agg,MODERATE,,0.0375399,0.001,rs78888579,0.51(T),"0.82,0.964(P,D)",1.735(L),-1.0990(T),,chr1,17292223,17292223,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly1471Arg/c.4411G>A|2017|CROCC|protein_coding|CODING|NM_014675.4|28|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3",,,,0.0225,0.0159,0.0497,0.06,0.07,0.05,,,1.000(N),0.91(T),0.0131(T),0.072,0.458266,4.27,3.35,-0.233000,0.912000,0.315000,0.010000,0.078000,0.998000,8.6032
synonymous_variant,CROCC,SILENT,NM_014675.4:p.Ala1715Ala/c.5145T>C,gcT/gcC,LOW,COSM4143042(1),0.944688,0.9663,rs4920574,,,,,,chr1,17295679,17295679,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1715Ala/c.5145T>C|2017|CROCC|protein_coding|CODING|NM_014675.4|32|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3",,,,0.907,0.9496,0.8907,0.93,0.98,0.90,,,,,,,,,,,,,,,,
missense_variant,CROCC,MISSENSE,NM_014675.4:p.Ser1744Gly/c.5230A>G,Agc/Ggc,MODERATE,,0.0940495,0.001,rs56278097,0.22(T),"0.483,0.439,0.37(P,B,B)",1.87(L),-0.9446(T),,chr1,17295764,17295764,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1744Gly/c.5230A>G|2017|CROCC|protein_coding|CODING|NM_014675.4|32|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1",,,,0.0123,0.0403,0.0507,0.11,0.22,0.05,,,0.318(P),2.77(T),0.0000(T),0.118,2.550629,4.62,1.85,0.402000,0.742000,1.184000,0.969000,0.995000,0.018000,4.6643
synonymous_variant,MFAP2,SILENT,NM_002403.3:p.His144His/c.432T>C,caT/caC,LOW,,0.415335,0.2401,rs761422,,,,,,chr1,17301780,17301780,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His143His/c.429T>C|182|MFAP2|protein_coding|CODING|NM_001135247.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His143His/c.429T>C|182|MFAP2|protein_coding|CODING|NM_001135248.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His144His/c.432T>C|183|MFAP2|protein_coding|CODING|NM_002403.3|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His144His/c.432T>C|183|MFAP2|protein_coding|CODING|NM_017459.2|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.4131,0.4582,0.4861,0.47,0.45,0.47,,,,,,,,,,,,,,,,
missense_variant,ATP13A2,MISSENSE,NM_001141974.2:p.Ala1072Thr/c.3214G>A,Gcc/Acc,MODERATE,COSM3750607(3),0.33127,0.246,rs3170740,1(T),0.001(B),,-1.0329(T),,chr1,17312743,17312743,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1072Thr/c.3214G>A|1158|ATP13A2|protein_coding|CODING|NM_001141974.2|27|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1167Pro/c.3501G>A|1175|ATP13A2|protein_coding|CODING|NM_001141973.2|29|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1172Pro/c.3516G>A|1180|ATP13A2|protein_coding|CODING|NM_022089.3|29|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,RCV000116444.1,,0.3998,0.4553,0.5099,0.42,0.22,0.53,,,0.031(P),"-3.3,-4.19(D,D)",0.0000(T),.,-1.900646,3.56,-7.11,-0.914000,-1.707000,-2.548000,0.046000,0.015000,0.001000,7.7309
synonymous_variant,ATP13A2,SILENT,NM_022089.3:p.Ala1064Ala/c.3192C>T,gcC/gcT,LOW,COSM3747591(5),0.338458,0.2599,rs9435659,,,,,,chr1,17313343,17313343,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1059Ala/c.3177C>T|1175|ATP13A2|protein_coding|CODING|NM_001141973.2|27|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1020Ala/c.3060C>T|1158|ATP13A2|protein_coding|CODING|NM_001141974.2|26|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1064Ala/c.3192C>T|1180|ATP13A2|protein_coding|CODING|NM_022089.3|27|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,GM06990:H3K36me3,H1ESC:CTCF,HUVEC:DNase1",,RCV000116442.1,,0.4325,0.4568,0.5089,0.42,0.21,0.52,,,,,,,,,,,,,,,,
synonymous_variant,ATP13A2,SILENT,NM_022089.3:p.Val990Val/c.2970G>A,gtG/gtA,LOW,COSM3750609(2),0.346246,0.252,rs761421,,,,,,chr1,17313654,17313654,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val985Val/c.2955G>A|1175|ATP13A2|protein_coding|CODING|NM_001141973.2|26|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val946Val/c.2838G>A|1158|ATP13A2|protein_coding|CODING|NM_001141974.2|25|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val990Val/c.2970G>A|1180|ATP13A2|protein_coding|CODING|NM_022089.3|26|1)","NHEK:CTCF,H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,K562:CTCF,HepG2:CTCF,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HepG2:DNase1,H1ESC:DNase1,HSMM:CTCF,GM06990:H3K36me3,H1ESC:Rad21,K562:DNase1,HeLa-S3:CTCF,H1ESC:CTCF,GM12878:CTCF,HUVEC:DNase1",,RCV000116439.1,,0.4346,0.4582,0.508,0.43,0.24,0.52,,,,,,,,,,,,,,,,
synonymous_variant,ATP13A2,SILENT,NM_022089.3:p.Gly879Gly/c.2637C>T,ggC/ggT,LOW,COSM3750613(3),0.338658,0.2599,rs9435662,,,,,,chr1,17314942,17314942,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly874Gly/c.2622C>T|1175|ATP13A2|protein_coding|CODING|NM_001141973.2|24|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly835Gly/c.2505C>T|1158|ATP13A2|protein_coding|CODING|NM_001141974.2|23|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly879Gly/c.2637C>T|1180|ATP13A2|protein_coding|CODING|NM_022089.3|24|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,RCV000116435.1,,0.4346,0.4568,0.508,0.42,0.21,0.52,,,,,,,,,,,,,,,,
synonymous_variant,ATP13A2,SILENT,NM_022089.3:p.Pro605Pro/c.1815C>T,ccC/ccT,LOW,COSM3997076(2),0.448482,0.2589,rs2076603,,,,,,chr1,17319011,17319011,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro600Pro/c.1800C>T|1175|ATP13A2|protein_coding|CODING|NM_001141973.2|17|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro600Pro/c.1800C>T|1158|ATP13A2|protein_coding|CODING|NM_001141974.2|17|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro605Pro/c.1815C>T|1180|ATP13A2|protein_coding|CODING|NM_022089.3|17|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,GM06990:H3K36me3",,RCV000116434.1,,0.4663,0.5216,0.6153,0.57,0.45,0.63,,,,,,,,,,,,,,,,
synonymous_variant,SDHB,SILENT,NM_003000.2:p.Ala6Ala/c.18C>A,gcC/gcA,LOW,,0.957069,0.996,rs2746462,,,,,,chr1,17380497,17380497,G,T,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala6Ala/c.18C>A|280|SDHB|protein_coding|CODING|NM_003000.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,H1ESC:HDAC2,NHEK:H3K27ac,HepG2:Gabp,NH-A:H3K27ac,K562:Gabp,K562:H3K4me3,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HeLa-S3:DNase1,HUVEC:H3K4me2,CD4:H3K18ac,K562:E2F6,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,CD4:H2BK5ac,CD4:H3K36ac,K562:H3K27ac,GM12878:H3K4me3,HeLa-S3:H3K27ac,HUVEC:H3K4me3,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,CD4:H3K4ac,H1ESC:H3K4me2,HepG2:H3K9ac,K562:SP2,CD4:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HepG2:TAF1,GM12878:H3K79me2,K562:H3K79me2,IMR90:DNase1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,CD4:H3K9ac,HepG2:Yy1,GM12878:ELF1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Yy1,H1ESC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,K562:E2F4,IMR90:H4K8ac,GM12878:Sin3Ak20,HUVEC:DNase1",,RCV000037717.2,,0.9918,0.9769,0.9722,0.95,0.91,0.97,,,,,,,,,,,,,,,,
synonymous_variant,PADI2,SILENT,NM_007365.2:p.Leu548Leu/c.1644A>G,ctA/ctG,LOW,COSM3750623(2),0.444688,0.3929,rs2076595,,,,,,chr1,17396703,17396703,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu548Leu/c.1644A>G|665|PADI2|protein_coding|CODING|NM_007365.2|15|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3",,,,0.4663,0.536,0.5905,0.53,0.39,0.60,,,,,,,,,,,,,,,,
synonymous_variant,PADI2,SILENT,NM_007365.2:p.Ala458Ala/c.1374G>A,gcG/gcA,LOW,COSM3750624(2),0.525958,0.4028,rs3818032,,,,,,chr1,17402255,17402255,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala458Ala/c.1374G>A|665|PADI2|protein_coding|CODING|NM_007365.2|12|1),"NHEK:CTCF,HeLa-S3:DNase1,HMEC:CTCF,K562:CTCF,HepG2:CTCF,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,H1ESC:Rad21,H1ESC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,GM06990:CTCF",,,,0.5378,0.5807,0.6561,0.62,0.54,0.65,,,,,,,,,,,,,,,,
synonymous_variant,PADI2,SILENT,NM_007365.2:p.Asn420Asn/c.1260C>T,aaC/aaT,LOW,COSM3997079(1),0.434505,0.3879,rs2057096,,,,,,chr1,17405809,17405809,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn420Asn/c.1260C>T|665|PADI2|protein_coding|CODING|NM_007365.2|11|1),"K562:H3K27me3,GM12878:H3K36me3",,,,0.4642,0.5259,0.5726,0.50,0.36,0.58,,,,,,,,,,,,,,,,
synonymous_variant,PADI2,SILENT,NM_007365.2:p.Leu178Leu/c.534C>T,ctC/ctT,LOW,COSM3750626(1),0.28135,0.5099,rs11203297,,,,,,chr1,17419024,17419024,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu178Leu/c.534C>T|665|PADI2|protein_coding|CODING|NM_007365.2|6|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3466,0.3631,0.1869,0.17,0.11,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PADI1,SILENT,NM_013358.2:p.Arg93Arg/c.279G>A,agG/agA,LOW,,0.146765,0.1567,rs2293912,,,,,,chr1,17550121,17550121,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg93Arg/c.279G>A|663|PADI1|protein_coding|CODING|NM_013358.2|3|1),"GM06990:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1626,0.3084,0.1402,0.12,0.05,0.16,,,,,,,,,,,,,,,,
synonymous_variant,PADI1,SILENT,NM_013358.2:p.Arg374Arg/c.1120A>C,Agg/Cgg,LOW,COSM146420(1),0.407947,0.372,rs3003406,,,,,,chr1,17557133,17557133,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg374Arg/c.1120A>C|663|PADI1|protein_coding|CODING|NM_013358.2|10|1),"K562:H3K27me3,NHEK:H3K36me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4969,0.3199,0.4254,0.41,0.41,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PADI3,SILENT,NM_016233.2:p.Arg397Arg/c.1191C>T,cgC/cgT,LOW,COSM3750634(1),0.0607029,0.001,rs11585357,,,,,,chr1,17601165,17601165,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg397Arg/c.1191C>T|664|PADI3|protein_coding|CODING|NM_016233.2|11|1),"NHEK:CTCF,K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HUVEC:CTCF,HepG2:H3K27me3",,,,0.0419,0.0994,0.1759,0.11,0.03,0.15,,,,,,,,,,,,,,,,
synonymous_variant,PADI3,SILENT,NM_016233.2:p.Pro623Pro/c.1869G>T,ccG/ccT,LOW,COSM3746669(2),0.404952,0.623,rs2293920,,,,,,chr1,17609448,17609448,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro623Pro/c.1869G>T|664|PADI3|protein_coding|CODING|NM_016233.2|16|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.454,0.415,0.4374,0.37,0.23,0.44,,,,,,,,,,,,,,,,
missense_variant,PADI4,MISSENSE,NM_012387.2:p.Gly55Ser/c.163G>A,Ggc/Agc,MODERATE,COSM3746670(1),0.524561,0.5635,rs11203366,1(T),"0.0,0.001(B,B)",-0.405(N),-0.9120(T),,chr1,17657534,17657534,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly55Ser/c.163G>A|663|PADI4|protein_coding|CODING|NM_012387.2|2|1),"GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5184,0.5432,0.5755,0.55,0.48,0.58,,0.899595(N),1.000(P),"3.29,3.29(T,T)",0.0000(T),0.022,-0.167802,5.44,-10.9,-1.322000,-1.960000,-1.530000,0.075000,0.000000,0.000000,4.2913
missense_variant,PADI4,MISSENSE,NM_012387.2:p.Val82Ala/c.245T>C,gTg/gCg,MODERATE,COSM3746671(1),0.533347,0.5635,rs11203367,1(T),"0.0,0.0(B,B)",-1.87(N),-0.9590(T),,chr1,17657616,17657616,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val82Ala/c.245T>C|663|PADI4|protein_coding|CODING|NM_012387.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5245,0.5476,0.5726,0.55,0.51,0.58,,0.173330(N),1.000(P),"3.24,3.24(T,T)",0.0000(T),0.014,-0.113090,5.56,4.66,-0.119000,0.846000,1.638000,0.007000,0.001000,0.080000,9.0124
missense_variant,PADI4,MISSENSE,NM_012387.2:p.Gly112Ala/c.335G>C,gGg/gCg,MODERATE,COSM3746672(2),0.521965,0.5585,rs874881,0.66(T),"0.19,0.19(B,B)",1.35(L),-1.0269(T),,chr1,17660499,17660499,G,C,hom,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly112Ala/c.335G>C|663|PADI4|protein_coding|CODING|NM_012387.2|3|1),"GM06990:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5215,0.5403,0.5537,0.53,0.49,0.55,,0.000534(D),0.290(P),"3.16,3.16(T,T)",0.0000(T),0.3,1.355764,4.74,4.74,0.557000,2.339000,3.212000,0.983000,0.885000,0.810000,13.6003
synonymous_variant,PADI4,SILENT,NM_012387.2:p.Leu117Leu/c.349T>C,Ttg/Ctg,LOW,COSM3746673(2),0.591853,0.6151,rs1748033,,,,,,chr1,17662662,17662662,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu117Leu/c.349T>C|663|PADI4|protein_coding|CODING|NM_012387.2|4|1),"NHEK:CTCF,HeLa-S3:DNase1,HMEC:CTCF,NH-A:CTCF,K562:Rad21,CD4:CTCF,K562:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,GM06990:CTCF",,,,0.5716,0.585,0.661,0.64,0.58,0.66,,,,,,,,,,,,,,,,
missense_variant,PADI4,MISSENSE,NM_012387.2:p.Asp260Asn/c.778G>A,Gac/Aac,MODERATE,COSM3750635(2),0.052516,0.001,rs35903413,0.43(T),"0.008,0.008(B,B)",0.895(L),-0.9724(T),,chr1,17668563,17668563,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp260Asn/c.778G>A|663|PADI4|protein_coding|CODING|NM_012387.2|7|1),"IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0317,0.0865,0.1531,0.10,0.03,0.13,,0.085903(N),1.000(P),2.43(T),0.0001(T),0.01,-0.518326,4.63,1.27,-0.355000,0.345000,0.539000,0.041000,0.069000,0.000000,6.2085
synonymous_variant,PADI6,SILENT,NM_207421.4:p.Ala383Ala/c.1149C>T,gcC/gcT,LOW,,0.108227,0.0506,rs12073549,,,,,,chr1,17720545,17720545,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala383Ala/c.1149C>T|694|PADI6|protein_coding|CODING|NM_207421.4|11|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HSMM:H3K27me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.1227,0.1715,0.1113,0.12,0.09,0.14,,,,,,,,,,,,,,,,
synonymous_variant,RCC2,SILENT,NM_001136204.2:p.Ile432Ile/c.1296C>T,atC/atT,LOW,,0.330871,0.1647,rs386622530,,,,,,chr1,17739586,17739586,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile432Ile/c.1296C>T|522|RCC2|protein_coding|CODING|NM_001136204.2|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile432Ile/c.1296C>T|522|RCC2|protein_coding|CODING|NM_018715.3|10|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.3885,0.3689,0.3688,0.36,0.39,0.35,,,,,,,,,,,,,,,,
missense_variant,ARHGEF10L,MISSENSE,NM_018125.3:p.Ser47Asn/c.140G>A,aGc/aAc,MODERATE,,0.0295527,0,rs34417109,0.21(T),"0.004,0.002,0.002,0.002(B,B,B,B)",0.46(N),-1.0412(T),,chr1,17914057,17914057,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser47Asn/c.140G>A|1240|ARHGEF10L|protein_coding|CODING|NM_001011722.2|2|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser47Asn/c.140G>A|1279|ARHGEF10L|protein_coding|CODING|NM_018125.3|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HSMM:H3K4me1,K562:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,HepG2:H3K27ac",,,,0.0573,0.0303,0.0596,0.05,0.01,0.06,,0.636762(N),0.997(D),"0.49,0.35,0.31,0.35(T,T,T,T)",0.0115(T),0.023,0.892561,4.7,2.82,0.655000,1.305000,1.201000,0.384000,0.742000,0.334000,6.4614
missense_variant,ARHGEF10L,MISSENSE,NM_018125.3:p.Trp991Arg/c.2971T>C,Tgg/Cgg,MODERATE,COSM4143084(1),0.9998,1,rs6695710,0.89(T),"0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",-1.905(N),-0.9950(T),,chr1,17991052,17991052,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp952Arg/c.2854T>C|1240|ARHGEF10L|protein_coding|CODING|NM_001011722.2|24|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp991Arg/c.2971T>C|1279|ARHGEF10L|protein_coding|CODING|NM_018125.3|26|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.011494(N),0.000(P),"1.69,1.69,1.69,1.69,1.69,1.69(T,T,T,T,T,T)",0.0000(T),0.241,-0.019640,4.22,3.15,-0.355000,0.172000,0.263000,0.864000,0.951000,0.000000,6.1301
synonymous_variant,ARHGEF10L,SILENT,NM_018125.3:p.Asn1110Asn/c.3330C>T,aaC/aaT,LOW,COSM3750656(1),0.784744,0.8363,rs2270978,,,,,,chr1,18023365,18023365,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1071Asn/c.3213C>T|1240|ARHGEF10L|protein_coding|CODING|NM_001011722.2|27|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1110Asn/c.3330C>T|1279|ARHGEF10L|protein_coding|CODING|NM_018125.3|29|1)","NHEK:CTCF,H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HUVEC:CTCF",,,,0.909,0.8674,0.8171,0.76,0.63,0.83,,,,,,,,,,,,,,,,
synonymous_variant,ARHGEF10L,SILENT,NM_018125.3:p.Asp1158Asp/c.3474T>C,gaT/gaC,LOW,COSM3750661(1),0.834665,0.8988,rs2270977,,,,,,chr1,18023509,18023509,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1119Asp/c.3357T>C|1240|ARHGEF10L|protein_coding|CODING|NM_001011722.2|27|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1158Asp/c.3474T>C|1279|ARHGEF10L|protein_coding|CODING|NM_018125.3|29|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,H1ESC:DNase1,H1ESC:CTCF",,,,0.9131,0.8775,0.8171,0.81,0.76,0.83,,,,,,,,,,,,,,,,
missense_variant,ARHGEF10L,MISSENSE,NM_018125.3:p.Ile1219Val/c.3655A>G,Atc/Gtc,MODERATE,COSM3750664(1),0.822684,0.8988,rs2270976,1(T),"0.001,0.001,0.001,0.001,0.001(B,B,B,B,B)",-0.525(N),-0.9518(T),,chr1,18023690,18023690,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1180Val/c.3538A>G|1240|ARHGEF10L|protein_coding|CODING|NM_001011722.2|27|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1219Val/c.3655A>G|1279|ARHGEF10L|protein_coding|CODING|NM_018125.3|29|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,H1ESC:DNase1,H1ESC:CTCF",,,,0.9162,0.8746,0.8211,0.80,0.71,0.84,,0.017853(N),0.000(P),"0.63,0.62,0.62,0.35,2.61(T,T,T,T,T)",0.0000(T),0.02,-0.208717,4.89,2.98,-0.119000,0.461000,0.608000,0.993000,1.000000,0.236000,7.746
missense_variant,ACTL8,MISSENSE,NM_030812.2:p.Ala3Ser/c.7G>T,Gca/Tca,MODERATE,COSM3746686(2),0.305711,0.4315,rs694214,0(D),0.008(B),0.55(N),-1.0170(T),,chr1,18149510,18149510,G,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala3Ser/c.7G>T|366|ACTL8|protein_coding|CODING|NM_030812.2|2|1),"K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2485,0.3228,0.4374,0.35,0.20,0.42,,0.426156(N),1.000(P),-3.46(D),0.0000(T),0.073,2.048776,4.72,-3.42,-0.274000,-0.699000,-0.019000,0.042000,0.000000,0.000000,3.7462
synonymous_variant,ACTL8,SILENT,NM_030812.2:p.Gly21Gly/c.63C>A,ggC/ggA,LOW,COSM3746687(1),0.482827,0.6865,rs2296035,,,,,,chr1,18149566,18149566,C,A,hom,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly21Gly/c.63C>A|366|ACTL8|protein_coding|CODING|NM_030812.2|2|1),"K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4315,0.5807,0.4732,0.42,0.34,0.46,,,,,,,,,,,,,,,,
missense_variant,KLHDC7A,MISSENSE,NM_152375.2:p.Pro141Arg/c.422C>G,cCc/cGc,MODERATE,COSM1742560(1),0.646965,0.8958,rs2992755,0.39(T),0.0(B),0(N),-1.0150(T),,chr1,18807897,18807897,C,G,het,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro141Arg/c.422C>G|777|KLHDC7A|protein_coding|CODING|NM_152375.2|1|1),"HepG2:H3K4me2,H1ESC:H3K4me1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,GM12878:H3K36me3,GM12878:Tcf12",,,,0.4847,0.7147,0.6113,0.62,0.60,0.63,,,1.000(P),-0.68(T),0.0000(T),0.037,1.275745,5.16,1.18,-0.946000,-0.168000,-0.040000,0.000000,0.000000,0.000000,5.2538
missense_variant,KLHDC7A,MISSENSE,NM_152375.2:p.Arg160Ser/c.478C>A,Cgc/Agc,MODERATE,COSM3750705(3),0.279553,0.2321,rs11261022,0.62(T),0.008(B),0(N),-1.0491(T),,chr1,18807953,18807953,C,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg160Ser/c.478C>A|777|KLHDC7A|protein_coding|CODING|NM_152375.2|1|1),"HepG2:H3K4me2,H1ESC:H3K4me1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,GM12878:H3K36me3,GM12878:Tcf12",,,,0.2352,0.3401,0.3628,0.32,0.25,0.35,,0.550465(U),1.000(P),-0.62(T),0.0000(T),0.033,1.764864,4.65,-3.99,-0.216000,-0.507000,-4.138000,0.010000,0.000000,0.000000,2.446
missense_variant,KLHDC7A,MISSENSE,NM_152375.2:p.His273Asn/c.817C>A,Cat/Aat,MODERATE,,0.672923,0.8958,rs2992753,1(T),0.0(B),-0.895(N),-0.9483(T),,chr1,18808292,18808292,C,A,het,missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His273Asn/c.817C>A|777|KLHDC7A|protein_coding|CODING|NM_152375.2|1|1),"H1ESC:H3K36me3,HepG2:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K36me3",,,,0.4847,0.7277,0.6113,0.64,0.67,0.63,,0.182256(N),1.000(P),-0.31(T),0.0000(T),0.012,-1.498345,4.92,4.92,-0.824000,0.717000,2.560000,0.277000,0.650000,0.998000,10.5437
synonymous_variant,KLHDC7A,SILENT,NM_152375.2:p.Ala330Ala/c.990T>A,gcT/gcA,LOW,COSM3722302(1),0.672724,0.8948,rs3007718,,,,,,chr1,18808465,18808465,T,A,het,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala330Ala/c.990T>A|777|KLHDC7A|protein_coding|CODING|NM_152375.2|1|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K36me3",,,,0.4836,0.7277,0.6113,0.64,0.66,0.63,,,,,,,,,,,,,,,,
missense_variant,KLHDC7A,MISSENSE,NM_152375.2:p.Thr351Pro/c.1051A>C,Aca/Cca,MODERATE,COSM424852(5),0.672724,0.8948,rs2992752,1(T),0.0(B),-1.1(N),-0.9691(T),,chr1,18808526,18808526,A,C,het,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr351Pro/c.1051A>C|777|KLHDC7A|protein_coding|CODING|NM_152375.2|1|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K36me3",,,,0.4836,0.7277,0.6113,0.64,0.66,0.63,,0.496434(N),1.000(P),-0.57(T),0.0000(T),0.053,-0.963986,5.01,0.69,-1.961000,-0.075000,-1.198000,0.002000,0.000000,0.000000,3.8663
missense_variant,TAS1R2,MISSENSE,NM_152232.2:p.Ser9Cys/c.26C>G,tCc/tGc,MODERATE,COSM3746703(2),0.797923,0.7748,rs9701796,1(T),0.0(B),-1.1(N),-0.9627(T),,chr1,19186129,19186129,G,C,hom,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser9Cys/c.26C>G|839|TAS1R2|protein_coding|CODING|NM_152232.2|1|1),,,,,0.7751,0.8415,0.7833,0.79,0.83,0.77,,,1.000(P),-2.47(D),0.0000(T),0.061,-1.590631,4.46,1.14,-0.674000,0.083000,-0.038000,0.042000,0.001000,0.000000,8.4868
synonymous_variant,ALDH4A1,SILENT,NM_003748.3:p.Asp460Asp/c.1380T>C,gaT/gaC,LOW,,0.73722,0.7063,rs2230708,,,,,,chr1,19201956,19201956,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp400Asp/c.1200T>C|503|ALDH4A1|protein_coding|CODING|NM_001161504.1|13|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp460Asp/c.1380T>C|563|ALDH4A1|protein_coding|CODING|NM_003748.3|13|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp460Asp/c.1380T>C|563|ALDH4A1|protein_coding|CODING|NM_170726.2|13|1)","NHEK:CTCF,NH-A:DNase1,HSMM:DNase1,H1ESC:H3K36me3,HeLa-S3:DNase1,HMEC:CTCF,NH-A:CTCF,K562:Rad21,CD4:DNase1,NHEK:H3K36me3,CD4:CTCF,K562:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HUVEC:CTCF,IMR90:DNase1,HepG2:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:DNase1,GM06990:H3K36me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,HeLa-S3:CTCF,H1ESC:CTCF,GM12878:CTCF,GM06990:CTCF,HUVEC:DNase1",,,,0.7587,0.8112,0.7386,0.70,0.68,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ALDH4A1,SILENT,NM_003748.3:p.Ala417Ala/c.1251C>T,gcC/gcT,LOW,COSM4143135(1),0.515974,0.6002,rs2230707,,,,,,chr1,19202896,19202896,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala357Ala/c.1071C>T|503|ALDH4A1|protein_coding|CODING|NM_001161504.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala417Ala/c.1251C>T|563|ALDH4A1|protein_coding|CODING|NM_003748.3|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala417Ala/c.1251C>T|563|ALDH4A1|protein_coding|CODING|NM_170726.2|12|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.6513,0.4453,0.45,0.44,0.46,,,,,,,,,,,,,,,,
synonymous_variant,ALDH4A1,SILENT,NM_003748.3:p.Ser410Ser/c.1230A>G,tcA/tcG,LOW,COSM1337325(2),0.660942,0.7063,rs7550938,,,,,,chr1,19202917,19202917,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser350Ser/c.1050A>G|503|ALDH4A1|protein_coding|CODING|NM_001161504.1|12|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser410Ser/c.1230A>G|563|ALDH4A1|protein_coding|CODING|NM_003748.3|12|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser410Ser/c.1230A>G|563|ALDH4A1|protein_coding|CODING|NM_170726.2|12|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.768,0.7137,0.62,0.48,0.69,,,,,,,,,,,,,,,,
synonymous_variant,ALDH4A1,SILENT,NM_003748.3:p.Ala407Ala/c.1221A>G,gcA/gcG,LOW,COSM1337327(3),0.660144,0.7044,rs2230706,,,,,,chr1,19202926,19202926,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala347Ala/c.1041A>G|503|ALDH4A1|protein_coding|CODING|NM_001161504.1|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala407Ala/c.1221A>G|563|ALDH4A1|protein_coding|CODING|NM_003748.3|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala407Ala/c.1221A>G|563|ALDH4A1|protein_coding|CODING|NM_170726.2|12|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.768,0.7117,0.62,0.48,0.69,,,,,,,,,,,,,,,,
synonymous_variant,ALDH4A1,SILENT,NM_003748.3:p.Ala350Ala/c.1050G>C,gcG/gcC,LOW,COSM1473186(3),0.641573,0.4683,rs2230705,,,,,,chr1,19203997,19203997,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala290Ala/c.870G>C|503|ALDH4A1|protein_coding|CODING|NM_001161504.1|10|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala350Ala/c.1050G>C|563|ALDH4A1|protein_coding|CODING|NM_003748.3|10|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala350Ala/c.1050G>C|563|ALDH4A1|protein_coding|CODING|NM_170726.2|10|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5573,0.7363,0.7117,0.71,0.72,0.71,,,,,,,,,,,,,,,,
synonymous_variant,UBR4,SILENT,NM_020765.2:p.His4959His/c.14877T>C,caT/caC,LOW,COSM3750714(1),0.71885,0.8105,rs1043905,,,,,,chr1,19411129,19411129,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His4959His/c.14877T>C|5183|UBR4|protein_coding|CODING|NM_020765.2|102|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5685,0.7349,0.6074,0.67,0.81,0.60,,,,,,,,,,,,,,,,
missense_variant,UBR4,MISSENSE,NM_020765.2:p.Met4867Leu/c.14599A>T,Atg/Ttg,MODERATE,COSM3750715(2),0.601438,0.7589,rs12584,0.41(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.695(N),-1.0404(T),,chr1,19413261,19413261,T,A,het,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met4867Leu/c.14599A>T|5183|UBR4|protein_coding|CODING|NM_020765.2|100|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.6844,0.5785,0.56,0.55,0.57,,0.000508(N),0.000(P),"1.64,1.64,1.64,1.64,1.64,1.64,1.64(T,T,T,T,T,T,T)",0.0000(T),0.079,2.115935,5.6,0.893,0.460000,-0.151000,2.616000,0.998000,0.997000,1.000000,5.2676
synonymous_variant,UBR4,SILENT,NM_020765.2:p.Lys4793Lys/c.14379G>A,aaG/aaA,LOW,COSM3750717(1),0.591853,0.7589,rs1043899,,,,,,chr1,19415304,19415304,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys4793Lys/c.14379G>A|5183|UBR4|protein_coding|CODING|NM_020765.2|98|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4847,0.6787,0.5775,0.55,0.53,0.57,,,,,,,,,,,,,,,,
synonymous_variant,UBR4,SILENT,NM_020765.2:p.Val4039Val/c.12117T>C,gtT/gtC,LOW,COSM3750720(1),0.719249,0.8105,rs6426677,,,,,,chr1,19433449,19433449,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val4039Val/c.12117T>C|5183|UBR4|protein_coding|CODING|NM_020765.2|82|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.7334,0.6083,0.67,0.81,0.60,,,,,,,,,,,,,,,,
synonymous_variant,UBR4,SILENT,NM_020765.2:p.Leu3327Leu/c.9981G>C,ctG/ctC,LOW,COSM1337405(2),0.600439,0.7589,rs1044010,,,,,,chr1,19447843,19447843,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu3327Leu/c.9981G>C|5183|UBR4|protein_coding|CODING|NM_020765.2|68|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4796,0.6844,0.5775,0.56,0.55,0.57,,,,,,,,,,,,,,,,
missense_variant,EMC1,MISSENSE,NM_015047.2:p.Ser345Thr/c.1034G>C,aGt/aCt,MODERATE,,0.572284,0.7401,rs709683,0.17(T),,0(N),-1.0410(T),,chr1,19565344,19565344,C,G,het,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser344Thr/c.1031G>C|992|EMC1|protein_coding|CODING|NM_001271427.1|10|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser345Thr/c.1034G>C|992|EMC1|protein_coding|CODING|NM_001271428.1|10|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser323Thr/c.968G>C|971|EMC1|protein_coding|CODING|NM_001271429.1|9|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser345Thr/c.1034G>C|993|EMC1|protein_coding|CODING|NM_015047.2|10|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.5101,0.3469,0.47,0.68,0.36,,,1.000(P),,0.0000(T),.,0.690412,6.17,5.22,-0.120000,1.643000,2.667000,0.804000,0.868000,0.934000,16.2834
missense_variant,AKR7A3,MISSENSE,NM_012067.2:p.Thr323Ala/c.967A>G,Act/Gct,MODERATE,COSM3746706(1),0.83147,0.8413,rs1738025,1(T),0.0(B),,-0.9891(T),,chr1,19609254,19609254,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr323Ala/c.967A>G|331|AKR7A3|protein_coding|CODING|NM_012067.2|7|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.8937,0.8674,0.8499,0.80,0.75,0.82,,0.000007(N),1.000(P),3.73(T),0.0000(T),0.034,-1.670557,3.59,3.59,-0.971000,0.487000,3.650000,0.017000,0.524000,1.000000,8.8928
missense_variant,AKR7A3,MISSENSE,NM_012067.2:p.Asn215Asp/c.643A>G,Aat/Gat,MODERATE,,0.807708,0.8502,rs1738023,1(T),0.001(B),,-0.9574(T),,chr1,19611241,19611241,T,C,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn215Asp/c.643A>G|331|AKR7A3|protein_coding|CODING|NM_012067.2|5|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.8967,0.8646,0.8579,0.77,0.66,0.83,,0.000001(N),1.000(P),1.89(T),0.0000(T),0.009,-1.421962,3.02,3.02,-1.160000,0.497000,1.232000,0.013000,0.954000,1.000000,8.9792
missense_variant,AKR7A3,MISSENSE,NM_012067.2:p.Val138Met/c.412G>A,Gtg/Atg,MODERATE,,0.463259,0.6905,rs2231198,0.15(T),0.057(B),2.61(M),-0.9828(T),,chr1,19612477,19612477,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val138Met/c.412G>A|331|AKR7A3|protein_coding|CODING|NM_012067.2|3|1),"IMR90:H3K36me3,HepG2:H3K36me3,K562:H3K36me3",,,,0.3896,0.5432,0.3817,0.36,0.37,0.36,,0.001046(N),0.988(P),1.91(T),0.0000(T),0.06,0.522560,3.04,3.04,0.194000,1.542000,2.346000,0.263000,1.000000,1.000000,5.9087
synonymous_variant,PQLC2,SILENT,NM_001040125.1:p.Thr123Thr/c.369G>A,acG/acA,LOW,COSM3750722(1),0.20607,0.0833,rs11558390,,,,,,chr1,19652063,19652063,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr123Thr/c.369G>A|291|PQLC2|protein_coding|CODING|NM_001040125.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr58Thr/c.174G>A|226|PQLC2|protein_coding|CODING|NM_001040126.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr123Thr/c.369G>A|291|PQLC2|protein_coding|CODING|NM_017765.2|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr12Thr/c.36G>A|180|PQLC2|protein_coding|CODING|NM_001287531.1|4|1),non_coding_exon_variant(MODIFIER|||n.721G>A||PQLC2||CODING|NR_109848.1|5|1)","K562:ZBTB7A,H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.3292,0.183,0.2873,0.25,0.18,0.29,,,,,,,,,,,,,,,,
synonymous_variant,MINOS1,SILENT,NM_001204083.1:p.His69His/c.207T>C,caT/caC,LOW,COSM3997128(1),0.345647,0.1419,rs1737428,,,,,,chr1,19950062,19950062,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His69His/c.207T>C|78|MINOS1|protein_coding|CODING|NM_001032363.3|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His53His/c.159T>C|62|MINOS1|protein_coding|CODING|NM_001204082.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His69His/c.207T>C|140|MINOS1|protein_coding|CODING|NM_001204083.1|3|1),intron_variant(MODIFIER|||c.-20+26459T>C|181|MINOS1-NBL1|protein_coding|CODING|NM_001204089.1|1|1),intron_variant(MODIFIER|||c.23+22597T>C|195|MINOS1-NBL1|protein_coding|CODING|NM_001204088.1|2|1),non_coding_exon_variant(MODIFIER|||n.461T>C||MINOS1||CODING|NR_033757.2|4|1),non_coding_exon_variant(MODIFIER|||n.355T>C||MINOS1||CODING|NR_033758.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,GM06990:H3K36me3",,,,0.2853,0.2032,0.2346,0.35,0.65,0.20,,,,,,,,,,,,,,,,
synonymous_variant,HTR6,SILENT,NM_000871.2:p.Pro428Pro/c.1284C>T,ccC/ccT,LOW,,0.0105831,0.0159,rs8192534,,,,,,chr1,20005822,20005822,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro428Pro/c.1284C>T|440|HTR6|protein_coding|CODING|NM_000871.2|3|1),"HMEC:H3K27me3,K562:H3K27me3,GM12878:H3K36me3",,,,0.0266,0.0043,0.007,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,TMCO4,SILENT,NM_181719.4:p.Arg478Arg/c.1434T>C,cgT/cgC,LOW,COSM3997130(1),0.660144,0.5823,rs4370779,,,,,,chr1,20020993,20020993,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg478Arg/c.1434T>C|634|TMCO4|protein_coding|CODING|NM_181719.4|15|1),"IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.7618,0.6787,0.8042,0.73,0.57,0.81,,,,,,,,,,,,,,,,
missense_variant,TMCO4,MISSENSE,NM_181719.4:p.Arg478His/c.1433G>A,cGt/cAt,MODERATE,,0.430112,0.2837,rs4515815,0.17(T),"0.004,0.007,0.032(B,B,B)",1.025(L),-0.9595(T),,chr1,20020994,20020994,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg478His/c.1433G>A|634|TMCO4|protein_coding|CODING|NM_181719.4|15|1),"IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.589,0.5389,0.669,0.51,0.26,0.64,,0.848090(N),1.000(P),"0.84,0.84,0.84(T,T,T)",0.0000(T),0.059,0.221549,4.68,-3.89,-1.036000,-0.616000,0.269000,0.017000,0.004000,0.057000,11.9426
missense_variant,RNF186,MISSENSE,NM_019062.1:p.Ala23Thr/c.67G>A,Gct/Act,MODERATE,COSM3750763(1),0.288538,0.3323,rs1541185,0.05(D),0.024(B),1.355(L),-0.9692(T),,chr1,20141528,20141528,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala23Thr/c.67G>A|227|RNF186|protein_coding|CODING|NM_019062.1|1|1),"HepG2:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2802,0.3761,0.2416,0.24,0.23,0.24,,0.746555(N),1.000(P),1.52(T),0.0000(T),0.023,3.343486,5.51,-5.27,-0.291000,-0.859000,-0.405000,0.013000,0.000000,0.000000,9.0371
missense_variant,PLA2G2D,MISSENSE,NM_012400.3:p.Ser80Gly/c.238A>G,Agc/Ggc,MODERATE,COSM3750787(2),0.769369,0.7569,rs584367,0.83(T),0.0(B),0.47(N),-0.9749(T),,chr1,20442054,20442054,T,C,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser80Gly/c.238A>G|145|PLA2G2D|protein_coding|CODING|NM_012400.3|3|1),intron_variant(MODIFIER|||c.185+772A>G|62|PLA2G2D|protein_coding|CODING|NM_001271814.1|2|1)","K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,H1ESC:CTCF",,,,0.7485,0.6974,0.5934,0.69,0.90,0.58,,0.017155(N),1.000(P),1.68(T),0.0000(T),0.036,-0.960936,5.6,-4.38,-2.488000,-0.914000,-0.253000,0.000000,0.000000,0.000000,1.1808
missense_variant,PLA2G2C,MISSENSE,NM_001105572.1:p.Gln140Arg/c.419A>G,cAg/cGg,MODERATE,COSM3746742(1),0.659944,0.7272,rs6426616,0.48(T),0.001(B),-1.445(N),-0.9479(T),,chr1,20490518,20490518,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln140Arg/c.419A>G|150|PLA2G2C|protein_coding|CODING|NM_001105572.1|3|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.6697,0.4942,0.5835,0.64,0.72,0.59,,0.050799(N),1.000(P),"1.73,1.73(T,T)",0.0000(T),0.03,-1.938262,4.37,3.36,-0.279000,1.073000,0.104000,0.015000,0.759000,0.988000,5.563
synonymous_variant,VWA5B1,SILENT,NM_001039500.2:p.Pro52Pro/c.156C>A,ccC/ccA,LOW,,0.00738818,0,rs61743984,,,,,,chr1,20639345,20639345,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro52Pro/c.156C>A|1215|VWA5B1|protein_coding|CODING|NM_001039500.2|3|1),"K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0072,0.0144,0.0189,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,VWA5B1,MISSENSE,NM_001039500.2:p.Glu1204Lys/c.3610G>A,Gag/Aag,MODERATE,COSM4143281(1),0.229433,0.2887,rs2072751,0.39(T),"0.187,0.016,0.607(B,B,P)",0.6(N),-0.9356(T),,chr1,20680718,20680718,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1204Lys/c.3610G>A|1215|VWA5B1|protein_coding|CODING|NM_001039500.2|22|1),"GM06990:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2382,0.1801,0.2237,,,,,0.000059(N),0.000(P),"1.41,1.41(T,T)",0.0000(T),0.196,1.210621,5.58,4.67,-1.688000,0.737000,4.651000,0.362000,0.892000,1.000000,11.7748
synonymous_variant,MUL1,SILENT,NM_024544.2:p.Ala342Ala/c.1026G>A,gcG/gcA,LOW,COSM3750846(2),0.0712859,0.001,rs595980,,,,,,chr1,20827216,20827216,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala342Ala/c.1026G>A|352|MUL1|protein_coding|CODING|NM_024544.2|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.0501,0.1023,0.1988,0.16,0.06,0.20,,,,,,,,,,,,,,,,
missense_variant,CDA,MISSENSE,NM_001785.2:p.Lys27Gln/c.79A>C,Aag/Cag,MODERATE,COSM3750847(2),0.192692,0.122,rs2072671,0.42(T),0.005(B),0.465(N),-0.9643(T),,chr1,20915701,20915701,A,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys27Gln/c.79A>C|146|CDA|protein_coding|CODING|NM_001785.2|1|1),"NHEK:H3K9ac,HeLa-S3:DNase1,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HeLa-S3:PolII,K562:H3K27me3,HUVEC:H3K27me3,HeLa-S3:H3K27ac,GM12878:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K4me2,HeLa-S3:H3K4me2,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K27ac,HMEC:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HUVEC:DNase1",,,,0.2301,0.3055,0.3141,0.26,0.10,0.35,,0.001322(N),0.000(P),0.98(T),0.0000(T),0.194,2.326085,5.14,3.98,0.459000,2.169000,1.604000,0.993000,1.000000,1.000000,7.7946
synonymous_variant,CDA,SILENT,NM_001785.2:p.Thr145Thr/c.435C>T,acC/acT,LOW,COSM146436(1),0.311102,0.244,rs1048977,,,,,,chr1,20945055,20945055,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr145Thr/c.435C>T|146|CDA|protein_coding|CODING|NM_001785.2|4|1),"K562:H3K27me3,NHEK:H3K36me3,HMEC:H3K36me3",,,,0.272,0.317,0.3231,0.34,0.40,0.31,,,,,,,,,,,,,,,,
synonymous_variant,DDOST,SILENT,NM_005216.4:p.Gly122Gly/c.366C>T,ggC/ggT,LOW,COSM4143296(1),0.58726,0.4117,rs4704,,,,,,chr1,20982631,20982631,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly122Gly/c.366C>T|456|DDOST|protein_coding|CODING|NM_005216.4|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.4918,0.5908,0.6292,0.65,0.73,0.61,,,,,,,,,,,,,,,,
missense_variant,DDOST,MISSENSE,NM_005216.4:p.Arg8Gly/c.22C>G,Cgt/Ggt,MODERATE,COSM3750850(1),0.973043,1,rs537816,1(T),"0.0,0.0(B,B)",0(N),-0.9225(T),,chr1,20987873,20987873,G,C,hom,missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg8Gly/c.22C>G|456|DDOST|protein_coding|CODING|NM_005216.4|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NHEK:H3K27ac,GM12878:ZEB1,K562:Max,HepG2:Gabp,K562:Gabp,K562:H3K4me3,HeLa-S3:Tr4,HeLa-S3:DNase1,K562:Cmyc,K562:CTCFL,HMEC:CTCF,CD4:H3K18ac,H1ESC:Nanog,K562:E2F6,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,HeLa-S3:Gabp,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,CD4:CTCF,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HepG2:CTCF,HepG2:H3K9ac,K562:SP2,CD4:PolII,HUVEC:H3K9ac,K562:FAIRE,GM12878:Cfos,H1ESC:SP1,CD4:H4K8ac,HUVEC:CTCF,HepG2:TAF1,GM12878:H3K79me2,K562:H3K79me2,IMR90:DNase1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,GM12878:DNase1,H1ESC:Gabp,HepG2:H3K27me3,K562:HEY1,CD4:H3K27ac,HepG2:PolII,K562:Znf263,HepG2:Yy1,CD4:H3K9ac,GM12878:ELF1,K562:H3K4me2,HepG2:SP1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Cfos,K562:Srf,GM12878:Yy1,IMR90:H3K4me3,H1ESC:H3K4me3,GM12878:Srf,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,H1ESC:CTCF,GM12878:CTCF,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF,HUVEC:DNase1",,,,1,0.9942,0.999,0.97,0.93,1.00,,0.000383(N),1.000(P),"0.88,0.72(T,T)",0.0000(T),0.21,-0.472585,5.35,3.4,-0.120000,1.505000,0.219000,0.412000,0.988000,0.001000,5.3416
missense_variant,KIF17,MISSENSE,NM_020816.3:p.Asp933Glu/c.2799C>G,gaC/gaG,MODERATE,,0.704473,0.5536,rs631357,1(T),"0.0,0.0(B,B)",-1.135(N),-0.9416(T),,chr1,20992819,20992819,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp932Glu/c.2796C>G|1028|KIF17|protein_coding|CODING|NM_001122819.2|14|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp833Glu/c.2499C>G|929|KIF17|protein_coding|CODING|NM_001287212.1|14|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp933Glu/c.2799C>G|1029|KIF17|protein_coding|CODING|NM_020816.3|14|1)",NHEK:H3K36me3,,,,0.636,0.7464,0.8241,0.79,0.76,0.81,,,1.000(P),"-0.02,0.03,0.04(T,T,T)",0.0000(T),0.1,-1.433156,5.95,3.66,-1.315000,0.168000,0.872000,0.068000,1.000000,1.000000,5.559
missense_variant,KIF17,MISSENSE,NM_020816.3:p.Ile341Val/c.1021A>G,Atc/Gtc,MODERATE,COSM4143300(1),0.163738,0.2927,rs2296225,0.05(D),"0.094,0.039(B,B)",0.305(N),-1.0860(T),,chr1,21031042,21031042,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile341Val/c.1021A>G|1028|KIF17|protein_coding|CODING|NM_001122819.2|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile241Val/c.721A>G|929|KIF17|protein_coding|CODING|NM_001287212.1|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile341Val/c.1021A>G|1029|KIF17|protein_coding|CODING|NM_020816.3|5|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2607,0.062,0.0915,0.09,0.10,0.08,,0.005340(U),0.001(P),"-0.58,-0.58,-0.58(T,T,T)",0.0000(T),0.078,1.936368,5.26,5.26,0.379000,2.127000,1.483000,0.883000,1.000000,1.000000,9.2176
synonymous_variant,KIF17,SILENT,NM_020816.3:p.Tyr90Tyr/c.270C>T,taC/taT,LOW,,0.280351,0.7232,rs12046928,,,,,,chr1,21042094,21042094,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr90Tyr/c.270C>T|1028|KIF17|protein_coding|CODING|NM_001122819.2|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr90Tyr/c.270C>T|1029|KIF17|protein_coding|CODING|NM_020816.3|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||929|KIF17|protein_coding|CODING|NM_001287212.1|2|1),5_prime_UTR_variant(MODIFIER||31|c.-31C>T|929|KIF17|protein_coding|CODING|NM_001287212.1|2|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3262,0.1614,0.1451,0.11,0.08,0.13,,,,,,,,,,,,,,,,
synonymous_variant,KIF17,SILENT,NM_020816.3:p.Arg13Arg/c.39T>C,cgT/cgC,LOW,COSM3746771(17),0.712061,0.8879,rs601329,,,,,,chr1,21044161,21044161,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg13Arg/c.39T>C|1028|KIF17|protein_coding|CODING|NM_001122819.2|1|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg13Arg/c.39T>C|1029|KIF17|protein_coding|CODING|NM_020816.3|1|1),5_prime_UTR_variant(MODIFIER||2098|c.-389T>C|929|KIF17|protein_coding|CODING|NM_001287212.1|1|1)","K562:Max,K562:H3K4me3,K562:E2F6,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,H1ESC:DNase1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,HUVEC:DNase1",,,,0.7413,0.621,0.7167,0.67,0.63,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SH2D5,SILENT,NM_001103161.1:p.Gln187Gln/c.561G>A,caG/caA,LOW,,0.879593,0.9802,rs592060,,,,,,chr1,21050958,21050958,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln103Gln/c.309G>A|339|SH2D5|protein_coding|CODING|NM_001103160.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln187Gln/c.561G>A|423|SH2D5|protein_coding|CODING|NM_001103161.1|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K36me3",,,,0.8282,0.7622,0.7714,0.82,0.96,0.76,,,,,,,,,,,,,,,,
synonymous_variant,EIF4G3,SILENT,NM_001198801.1:p.Leu1316Leu/c.3946T>C,Tta/Cta,LOW,,0.9377,1,rs2230573,,,,,,chr1,21167404,21167404,A,G,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1316Leu/c.3946T>C|1621|EIF4G3|protein_coding|CODING|NM_001198801.1|28|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1286Leu/c.3856T>C|1591|EIF4G3|protein_coding|CODING|NM_001198802.1|28|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1280Leu/c.3838T>C|1585|EIF4G3|protein_coding|CODING|NM_003760.4|25|1)","K562:USF1,H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,1,0.9755,1,0.94,0.81,1.00,,,,,,,,,,,,,,,,
missense_variant,NBPF3,MISSENSE,NM_032264.4:p.Tyr114Cys/c.341A>G,tAc/tGc,MODERATE,COSM425331(2),0.423922,0.5804,rs1827293,0(D),"0.998,0.979(D,D)",2.195(M),-0.9026(T),,chr1,21795388,21795388,A,G,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr114Cys/c.341A>G|621|NBPF3|protein_coding|CODING|NM_001256416.2|3|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr114Cys/c.341A>G|633|NBPF3|protein_coding|CODING|NM_032264.4|3|1),splice_region_variant(LOW|||c.341A>G|621|NBPF3|protein_coding|CODING|NM_001256416.2|3|1),splice_region_variant(LOW|||c.341A>G|633|NBPF3|protein_coding|CODING|NM_032264.4|3|1),splice_region_variant(LOW|||n.1268A>G||NBPF3||CODING|NR_046176.2|6|1),intron_variant(MODIFIER|||c.134-1737A>G|563|NBPF3|protein_coding|CODING|NM_001256417.2|2|1),non_coding_exon_variant(MODIFIER|||n.1268A>G||NBPF3||CODING|NR_046176.2|6|1)","NHEK:CTCF,IMR90:H3K36me3,HMEC:CTCF,K562:Rad21,NHEK:H3K36me3,K562:CTCF,HepG2:CTCF,HepG2:H3K36me3,GM12878:H3K36me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,H1ESC:Rad21,K562:DNase1,HeLa-S3:CTCF,H1ESC:CTCF,GM12878:CTCF,GM06990:CTCF",,,,0.4826,0.4755,0.5417,0.44,0.22,0.55,,,1.000(P),"3.69,3.52,3.55,3.69(T,T,T,T)",0.0000(T),0.371,1.323132,1.08,-2.16,0.327000,-0.776000,-0.056000,0.001000,0.001000,0.001000,1.9892
synonymous_variant,NBPF3,SILENT,NM_032264.4:p.Ser501Ser/c.1503G>A,tcG/tcA,LOW,COSM3930650(1),0.467053,0.4871,rs71512991,,,,,,chr1,21808159,21808159,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser489Ser/c.1467G>A|621|NBPF3|protein_coding|CODING|NM_001256416.2|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser431Ser/c.1293G>A|563|NBPF3|protein_coding|CODING|NM_001256417.2|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser501Ser/c.1503G>A|633|NBPF3|protein_coding|CODING|NM_032264.4|13|1),non_coding_exon_variant(MODIFIER|||n.2430G>A||NBPF3||CODING|NR_046176.2|16|1)","IMR90:H3K36me3,CD4:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,GM06990:H3K36me3,NH-A:H3K27me3",,,,0.6063,0.4827,0.495,,,,,,,,,,,,,,,,,,,
synonymous_variant,NBPF3,SILENT,NM_032264.4:p.Gly517Gly/c.1551A>C,ggA/ggC,LOW,COSM3746797(3),,,rs146564096,,,,,,chr1,21808207,21808207,A,C,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly505Gly/c.1515A>C|621|NBPF3|protein_coding|CODING|NM_001256416.2|13|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly447Gly/c.1341A>C|563|NBPF3|protein_coding|CODING|NM_001256417.2|12|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly517Gly/c.1551A>C|633|NBPF3|protein_coding|CODING|NM_032264.4|13|1),non_coding_exon_variant(MODIFIER|||n.2478A>C||NBPF3||CODING|NR_046176.2|16|1)","IMR90:H3K36me3,CD4:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,GM06990:H3K36me3,NH-A:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,NBPF3,SILENT,NM_032264.4:p.Leu523Leu/c.1567T>C,Ttg/Ctg,LOW,COSM3746800(5),,,rs145079058,,,,,,chr1,21808223,21808223,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu511Leu/c.1531T>C|621|NBPF3|protein_coding|CODING|NM_001256416.2|13|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu453Leu/c.1357T>C|563|NBPF3|protein_coding|CODING|NM_001256417.2|12|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu523Leu/c.1567T>C|633|NBPF3|protein_coding|CODING|NM_032264.4|13|1),non_coding_exon_variant(MODIFIER|||n.2494T>C||NBPF3||CODING|NR_046176.2|16|1)","IMR90:H3K36me3,CD4:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,GM06990:H3K36me3,NH-A:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ALPL,SILENT,NM_000478.4:p.Ser110Ser/c.330T>C,agT/agC,LOW,COSM3746801(1),0.929513,0.9821,rs1780316,,,,,,chr1,21889635,21889635,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser110Ser/c.330T>C|524|ALPL|protein_coding|CODING|NM_000478.4|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser55Ser/c.165T>C|469|ALPL|protein_coding|CODING|NM_001127501.2|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser33Ser/c.99T>C|447|ALPL|protein_coding|CODING|NM_001177520.1|3|1)","H1ESC:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.9581,0.9539,0.9374,0.92,0.87,0.95,,,,,,,,,,,,,,,,
missense_variant,RAP1GAP,MISSENSE,NM_001145658.1:p.Ala171Thr/c.511G>A,Gct/Act,MODERATE,,0.392971,0.4196,rs2275363,0.53(T),"0.001,0.001,0.002,0.001(B,B,B,B)",1.65(L),-1.0212(T),,chr1,21940555,21940555,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala107Thr/c.319G>A|681|RAP1GAP|protein_coding|CODING|NM_001145657.1|9|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala171Thr/c.511G>A|727|RAP1GAP|protein_coding|CODING|NM_001145658.1|8|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala107Thr/c.319G>A|663|RAP1GAP|protein_coding|CODING|NM_002885.2|8|1)","H1ESC:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,K562:H3K36me3",,,,0.4325,0.2781,0.4443,0.43,0.37,0.46,,0.247262(N),1.000(P),"-3.27,-3.27,-3.27,-3.27,-3.27(D,D,D,D,D)",0.0000(T),0.122,1.498257,4.82,-1.45,-0.361000,-0.517000,-1.035000,0.989000,0.951000,0.000000,10.5468
missense_variant,LDLRAD2,MISSENSE,NM_001013693.2:p.Asn134Thr/c.401A>C,aAc/aCc,MODERATE,COSM425366(7),0.612819,0.6319,rs10917051,1(T),0.0(B),-0.895(N),-0.9373(T),,chr1,22141206,22141206,A,C,hom,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn134Thr/c.401A>C|272|LDLRAD2|protein_coding|CODING|NM_001013693.2|2|1),"NHEK:CTCF,HMEC:CTCF,NHEK:H3K27me3,K562:Rad21,K562:CTCF,HUVEC:PolII,HepG2:CTCF,IMR90:H3K27me3,H1ESC:H3K27me3,HUVEC:CTCF,HepG2:DNase1,H1ESC:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM12878:CTCF,GM06990:CTCF,HUVEC:DNase1",,,,0.5869,0.7695,0.6988,0.64,0.52,0.69,,0.104491(N),0.999(P),"0.8,0.8(T,T)",0.0000(T),0.007,-0.831142,4.83,3.9,-0.382000,0.459000,1.524000,0.201000,1.000000,1.000000,9.7096
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Ser4351Ser/c.13053A>G,tcA/tcG,LOW,COSM3750884(11),0.780351,0.8155,rs897467,,,,,,chr1,22149935,22149935,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4351Ser/c.13053A>G|4392|HSPG2|protein_coding|CODING|NM_001291860.1|97|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4350Ser/c.13050A>G|4391|HSPG2|protein_coding|CODING|NM_005529.6|97|1),3_prime_UTR_variant(MODIFIER||1227|c.*1227T>C|272|LDLRAD2|protein_coding|CODING|NM_001013693.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.8517,0.7493,0.833,0.79,0.72,0.83,,,,,,,,,,,,,,,,
missense_variant,HSPG2,MISSENSE,NM_001291860.1:p.Ser4332Asn/c.12995G>A,aGc/aAc,MODERATE,COSM3750886(2),0.176118,0.1567,rs3736360,0.76(T),0.004(B),-0.06(N),-1.1061(T),,chr1,22150120,22150120,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser4332Asn/c.12995G>A|4392|HSPG2|protein_coding|CODING|NM_001291860.1|96|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser4331Asn/c.12992G>A|4391|HSPG2|protein_coding|CODING|NM_005529.6|96|1),3_prime_UTR_variant(MODIFIER||1412|c.*1412C>T|272|LDLRAD2|protein_coding|CODING|NM_001013693.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.318,0.1484,0.2157,0.15,0.09,0.18,,0.247691(N),0.000(P),-0.93(T),0.0002(T),0.01,0.962709,5.03,2.03,0.655000,0.124000,0.096000,0.744000,0.899000,0.022000,5.3758
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Arg4319Arg/c.12955C>A,Cgg/Agg,LOW,COSM3750887(1),,,rs3736358,,,,,,chr1,22150160,22150160,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg4319Arg/c.12955C>A|4392|HSPG2|protein_coding|CODING|NM_001291860.1|96|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg4318Arg/c.12952C>A|4391|HSPG2|protein_coding|CODING|NM_005529.6|96|1),3_prime_UTR_variant(MODIFIER||1452|c.*1452G>T|272|LDLRAD2|protein_coding|CODING|NM_001013693.2|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,,,,0.13,0.04,0.18,,,,,,,,,,,,,,,,
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Asp4105Asp/c.12315T>C,gaT/gaC,LOW,COSM3746805(1),0.257188,0.1577,rs2228347,,,,,,chr1,22154845,22154845,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp4105Asp/c.12315T>C|4392|HSPG2|protein_coding|CODING|NM_001291860.1|89|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp4104Asp/c.12312T>C|4391|HSPG2|protein_coding|CODING|NM_005529.6|89|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.5092,0.2161,0.3241,0.25,0.15,0.31,,,,,,,,,,,,,,,,
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Val3730Val/c.11190G>T,gtG/gtT,LOW,COSM3750888(1),0.157748,0.1567,rs2229487,,,,,,chr1,22159008,22159008,C,A,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val3730Val/c.11190G>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|81|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val3729Val/c.11187G>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|81|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.2914,0.1455,0.1928,0.13,0.06,0.17,,,,,,,,,,,,,,,,
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Val3540Val/c.10620C>T,gtC/gtT,LOW,COSM3997257(1),0.159545,0.1577,rs2229492,,,,,,chr1,22161275,22161275,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val3540Val/c.10620C>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|77|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val3539Val/c.10617C>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|77|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.2986,0.1513,0.1928,0.13,0.06,0.17,,,,,,,,,,,,,,,,
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Ala3285Ala/c.9855T>C,gcT/gcC,LOW,,0.346046,0.1587,rs2291826,,,,,,chr1,22165901,22165901,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3285Ala/c.9855T>C|4392|HSPG2|protein_coding|CODING|NM_001291860.1|73|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3284Ala/c.9852T>C|4391|HSPG2|protein_coding|CODING|NM_005529.6|73|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.408,0.2435,0.2724,0.35,0.53,0.26,,,,,,,,,,,,,,,,
missense_variant,HSPG2,MISSENSE,NM_001291860.1:p.His3257Tyr/c.9769C>T,Cac/Tac,MODERATE,COSM3750891(3),0.152157,0.1577,rs2291827,1(T),0.194(B),0.58(N),-1.0973(T),,chr1,22165987,22165987,G,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His3257Tyr/c.9769C>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|73|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His3256Tyr/c.9766C>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|73|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.2986,0.1484,0.1928,0.12,0.04,0.17,,0.001089(N),0.000(P),1.67(T),0.0001(T),0.269,3.261475,5.5,5.5,0.563000,2.597000,5.085000,0.928000,1.000000,1.000000,17.9616
missense_variant,HSPG2,MISSENSE,NM_001291860.1:p.Ile2039Met/c.6117C>G,atC/atG,MODERATE,,0.00838658,0,rs116788687,0.12(T),0.033(B),1.555(L),-0.9262(T),,chr1,22181360,22181360,G,C,het,"missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile2039Met/c.6117C>G|4392|HSPG2|protein_coding|CODING|NM_001291860.1|48|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile2038Met/c.6114C>G|4391|HSPG2|protein_coding|CODING|NM_005529.6|48|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.001,0.0187,0.0268,0.02,0.00,0.02,,0.024422(N),0.696(D),-0.34(T),0.0928(T),0.104,2.273574,5.54,0.0624,-0.258000,0.301000,0.260000,0.867000,1.000000,0.989000,4.8606
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Thr1973Thr/c.5919C>T,acC/acT,LOW,,,,rs147669915,,,,,,chr1,22181878,22181878,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1973Thr/c.5919C>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|47|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1972Thr/c.5916C>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|47|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,HSPG2,MISSENSE,NM_001291860.1:p.Ala1504Val/c.4511C>T,gCg/gTg,MODERATE,COSM3750893(7),0.691494,0.8889,rs897471,0.07(T),0.997(D),1.5(L),-1.1000(T),,chr1,22191454,22191454,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1504Val/c.4511C>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|36|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1503Val/c.4508C>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|36|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.5276,0.781,0.7256,0.70,0.62,0.74,,0.001754(N),0.999(P),1.27(T),0.0000(T),0.088,3.514289,5.31,4.37,0.467000,1.192000,2.260000,0.310000,0.012000,0.069000,12.8191
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Val1300Val/c.3900G>A,gtG/gtA,LOW,COSM425375(1),0.42492,0.4058,rs2229482,,,,,,chr1,22199245,22199245,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1300Val/c.3900G>A|4392|HSPG2|protein_coding|CODING|NM_001291860.1|32|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1299Val/c.3897G>A|4391|HSPG2|protein_coding|CODING|NM_005529.6|32|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM06990:H3K27me3,NHEK:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.5204,0.4078,0.6471,0.52,0.29,0.64,,,,,,,,,,,,,,,,
missense_variant,HSPG2,MISSENSE,NM_001291860.1:p.Asn766Ser/c.2297A>G,aAt/aGt,MODERATE,,0.929912,1,rs989994,0.24(T),0.016(B),1.45(L),-0.9672(T),,chr1,22206649,22206649,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn766Ser/c.2297A>G|4392|HSPG2|protein_coding|CODING|NM_001291860.1|17|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn765Ser/c.2294A>G|4391|HSPG2|protein_coding|CODING|NM_005529.6|17|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.999,0.9784,1,0.94,0.81,1.00,,0.015750(N),0.002(P),0.11(T),0.0000(T),0.082,2.921300,5.38,5.38,0.533000,2.044000,0.803000,0.998000,1.000000,1.000000,13.348
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Ala704Ala/c.2112C>T,gcC/gcT,LOW,COSM4143367(1),0.929912,1,rs1874793,,,,,,chr1,22206942,22206942,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala704Ala/c.2112C>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|16|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala703Ala/c.2109C>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|16|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.999,0.9784,1,0.94,0.81,1.00,,,,,,,,,,,,,,,,
missense_variant,HSPG2,MISSENSE,NM_001291860.1:p.Met639Val/c.1915A>G,Atg/Gtg,MODERATE,,0.973642,1,rs1874792,1(T),0.0(B),-1.955(N),-0.9791(T),,chr1,22207235,22207235,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met639Val/c.1915A>G|4392|HSPG2|protein_coding|CODING|NM_001291860.1|15|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met638Val/c.1912A>G|4391|HSPG2|protein_coding|CODING|NM_005529.6|15|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,1,0.9928,1,0.98,0.93,1.00,,0.062409(N),1.000(P),1.34(T),0.0000(T),0.016,-1.669374,5.51,3.56,-0.215000,0.707000,1.555000,0.083000,0.609000,0.813000,7.5688
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Gly158Gly/c.474G>T,ggG/ggT,LOW,,0.444489,0.3522,rs2254358,0.24(T),0.226(B),,-0.9603(T),,chr1,22216574,22216574,C,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly158Gly/c.474G>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly158Gly/c.474G>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM06990:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.6217,0.4164,0.6839,0.55,0.30,0.68,,0.042880(N),0.998(P),0.39(T),0.0000(T),.,1.116592,5.44,0.36,0.650000,0.199000,-0.631000,0.027000,0.928000,0.000000,3.7839
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Leu148Leu/c.444G>C,ctG/ctC,LOW,COSM3997259(2),0.444489,0.3522,rs2254357,0.91(T),0.509(P),,-1.0502(T),,chr1,22216604,22216604,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu148Leu/c.444G>C|4392|HSPG2|protein_coding|CODING|NM_001291860.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu148Leu/c.444G>C|4391|HSPG2|protein_coding|CODING|NM_005529.6|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM06990:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.6217,0.4164,0.6839,0.55,0.30,0.68,,,0.000(P),0.56(T),0.0000(T),.,0.100844,5.44,4.5,0.655000,2.837000,1.469000,0.871000,1.000000,1.000000,14.0504
synonymous_variant,HSPG2,SILENT,NM_001291860.1:p.Phe108Phe/c.324C>T,ttC/ttT,LOW,,0.948083,1,rs2501260,,,,,,chr1,22217108,22217108,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe108Phe/c.324C>T|4392|HSPG2|protein_coding|CODING|NM_001291860.1|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe108Phe/c.324C>T|4391|HSPG2|protein_coding|CODING|NM_005529.6|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,1,0.9798,1,0.95,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CELA3B,SILENT,NM_007352.2:p.Ser51Ser/c.153C>T,agC/agT,LOW,COSM4143376(1),0.849241,0.755,rs7528228,,,,,,chr1,22307340,22307340,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser51Ser/c.153C>T|270|CELA3B|protein_coding|CODING|NM_007352.2|3|1),"NHEK:CTCF,HeLa-S3:DNase1,HMEC:CTCF,K562:H3K27me3,K562:Rad21,CD4:CTCF,K562:CTCF,HepG2:CTCF,HUVEC:CTCF,HepG2:DNase1,H1ESC:DNase1,HSMM:CTCF,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,HeLa-S3:CTCF,H1ESC:CTCF,GM12878:CTCF,HUVEC:DNase1,GM06990:CTCF",,,,0.9458,0.9352,0.9722,,,,,,,,,,,,,,,,,,,
synonymous_variant,CELA3B,SILENT,NM_007352.2:p.Thr57Thr/c.171C>G,acC/acG,LOW,COSM4143378(3),0.847644,0.754,rs7528300,,,,,,chr1,22307358,22307358,C,G,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr57Thr/c.171C>G|270|CELA3B|protein_coding|CODING|NM_007352.2|3|1),"NHEK:CTCF,HeLa-S3:DNase1,HMEC:CTCF,K562:H3K27me3,K562:Rad21,CD4:CTCF,K562:CTCF,HepG2:CTCF,HUVEC:CTCF,HepG2:DNase1,H1ESC:DNase1,HSMM:CTCF,HepG2:Rad21,H1ESC:Rad21,K562:DNase1,HeLa-S3:CTCF,H1ESC:CTCF,GM12878:CTCF,HUVEC:DNase1,GM06990:CTCF",,,,0.9468,0.9366,0.9722,,,,,,,,,,,,,,,,,,,
missense_variant,CELA3B,MISSENSE,NM_007352.2:p.Arg79Trp/c.235C>T,Cgg/Tgg,MODERATE,COSM3997262(1),0.893371,0.755,rs7528405,0.18(T),0.598(P),2.33(M),-0.9226(T),,chr1,22307538,22307538,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg79Trp/c.235C>T|270|CELA3B|protein_coding|CODING|NM_007352.2|4|1),K562:H3K27me3,,,,0.9519,0.9625,0.992,0.95,0.86,0.99,,0.718025(N),1.000(P),"-2.49,-2.49(D,D)",0.0000(T),0.45,1.513694,4.89,-0.773,0.650000,-0.086000,-0.188000,0.036000,0.029000,0.000000,1.8471
synonymous_variant,CELA3B,SILENT,NM_007352.2:p.Pro146Pro/c.438G>C,ccG/ccC,LOW,COSM3997267(2),0.879393,0.755,rs10733033,,,,,,chr1,22310262,22310262,G,C,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro146Pro/c.438G>C|270|CELA3B|protein_coding|CODING|NM_007352.2|5|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.9519,0.9539,0.992,0.93,0.81,0.99,,,,,,,,,,,,,,,,
synonymous_variant,CELA3B,SILENT,NM_007352.2:p.Pro181Pro/c.543G>C,ccG/ccC,LOW,,,,rs3820287,,,,,,chr1,22310725,22310725,G,C,het,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro181Pro/c.543G>C|270|CELA3B|protein_coding|CODING|NM_007352.2|6|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,,,,0.88,0.76,0.94,,,,,,,,,,,,,,,,
missense_variant,CELA3B,MISSENSE,NM_007352.2:p.Ile209Val/c.625A>G,Atc/Gtc,MODERATE,,0.00878594,0.001,rs114365157,0.18(T),0.004(B),0.16(N),-0.7619(T),,chr1,22310807,22310807,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile209Val/c.625A>G|270|CELA3B|protein_coding|CODING|NM_007352.2|6|1),"K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.0051,0.0115,0.0298,0.02,0.00,0.03,,0.254180(N),1.000(N),"-2.36,-2.36(D,D)",0.2029(T),0.12,-2.754062,4.53,-0.787,-0.297000,-0.349000,-0.276000,0.087000,0.002000,0.000000,4.1126
synonymous_variant,CELA3B,SILENT,NM_007352.2:p.Ile260Ile/c.780T>C,atT/atC,LOW,,0.880791,0.7629,rs1803530,,,,,,chr1,22313161,22313161,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile260Ile/c.780T>C|270|CELA3B|protein_coding|CODING|NM_007352.2|7|1),,,,,0.9591,0.9496,0.992,0.93,0.81,0.99,,,,,,,,,,,,,,,,
missense_variant,CELA3A,MISSENSE,NM_005747.4:p.Ala241Gly/c.722C>G,gCc/gGc,MODERATE,COSM4143379(1),0.895767,0.7431,rs3820285,0.59(T),0.004(B),0.155(N),-0.9938(T),,chr1,22336277,22336277,C,G,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala241Gly/c.722C>G|270|CELA3A|protein_coding|CODING|NM_005747.4|7|1),GM12878:H3K36me3,,,,0.953,0.902,0.9771,0.96,0.92,0.98,,,1.000(P),"2.27,2.27(T,T)",0.0000(T),0.075,-1.949341,3.65,1.71,-0.371000,0.216000,-0.157000,0.011000,0.000000,0.000000,11.3991
synonymous_variant,CELA3A,SILENT,NM_005747.4:p.Pro250Pro/c.750C>T,ccC/ccT,LOW,COSM4143380(1),0.286542,0.4018,rs9187,,,,,,chr1,22336305,22336305,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro250Pro/c.750C>T|270|CELA3A|protein_coding|CODING|NM_005747.4|7|1),GM12878:H3K36me3,,,,0.2219,0.4107,0.2207,0.24,0.26,0.23,,,,,,,,,,,,,,,,
synonymous_variant,CELA3A,SILENT,NM_005747.4:p.Thr251Thr/c.753G>A,acG/acA,LOW,COSM4143381(1),0.285543,0.3998,rs12908,,,,,,chr1,22336308,22336308,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr251Thr/c.753G>A|270|CELA3A|protein_coding|CODING|NM_005747.4|7|1),GM12878:H3K36me3,,,,0.2219,0.4078,0.2207,0.24,0.26,0.23,,,,,,,,,,,,,,,,
missense_variant,ZBTB40,MISSENSE,NM_001083621.1:p.Val997Met/c.2989G>A,Gtg/Atg,MODERATE,,0.998403,1,rs209720,0.3(T),"0.0,0.001(B,B)",-0.105(N),-0.9439(T),,chr1,22846709,22846709,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val997Met/c.2989G>A|1239|ZBTB40|protein_coding|CODING|NM_001083621.1|15|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val997Met/c.2989G>A|1239|ZBTB40|protein_coding|CODING|NM_014870.3|14|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.994,1.00,1.00,0.99,,0.000003(N),1.000(P),"3.53,3.53,3.53(T,T,T)",0.0000(T),0.085,0.539123,5.79,5.79,-0.361000,1.023000,2.300000,0.962000,1.000000,1.000000,8.2823
synonymous_variant,EPHA8,SILENT,NM_020526.3:p.Val430Val/c.1290G>A,gtG/gtA,LOW,COSM3750974(1),0.0844649,0.0486,rs56044578,,,,,,chr1,22915674,22915674,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val430Val/c.1290G>A|1005|EPHA8|protein_coding|CODING|NM_020526.3|5|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val430Val/c.1290G>A|495|EPHA8|protein_coding|CODING|NM_001006943.1|5|1)","HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.1984,0.0504,0.0815,0.06,0.05,0.07,,,,,,,,,,,,,,,,
missense_variant,EPHA8,MISSENSE,NM_001006943.1:p.Ser457Pro/c.1369T>C,Tca/Cca,MODERATE,COSM3750976(2),0.481829,0.2907,rs606002,,0.0(B),,-1.1090(T),,chr1,22915753,22915753,T,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser457Pro/c.1369T>C|495|EPHA8|protein_coding|CODING|NM_001006943.1|5|1),intron_variant(MODIFIER|||c.1315+54T>C|1005|EPHA8|protein_coding|CODING|NM_020526.3|5|1)","HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5491,0.3761,0.3777,0.46,0.65,0.36,,,1.000(P),"5.0,5.0(T,T)",0.0000(T),0.026,0.641996,1.67,-0.495,-0.971000,-0.528000,-0.993000,0.029000,0.000000,0.001000,2.7548
missense_variant,EPHA8,MISSENSE,NM_001006943.1:p.Leu492Phe/c.1474C>T,Ctt/Ttt,MODERATE,COSM99210(1),0.0934505,0.0486,rs76452513,,0.002(B),,-0.9234(T),,chr1,22915858,22915858,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu492Phe/c.1474C>T|495|EPHA8|protein_coding|CODING|NM_001006943.1|5|1),intron_variant(MODIFIER|||c.1315+159C>T|1005|EPHA8|protein_coding|CODING|NM_020526.3|5|1)","HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.1984,0.0576,0.0815,0.07,0.08,0.07,,,1.000(N),"4.93,4.93(T,T)",0.0002(T),0.016,0.415574,2.86,-2.54,0.491000,-0.663000,-1.468000,0.258000,0.000000,0.000000,7.8641
synonymous_variant,EPHA8,SILENT,NM_020526.3:p.Asn467Asn/c.1401C>T,aaC/aaT,LOW,,0.336262,0.1726,rs209696,,,,,,chr1,22919904,22919904,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn467Asn/c.1401C>T|1005|EPHA8|protein_coding|CODING|NM_020526.3|6|1),"HMEC:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.4898,0.353,0.2664,0.29,0.38,0.24,,,,,,,,,,,,,,,,
synonymous_variant,EPHA8,SILENT,NM_020526.3:p.Glu852Glu/c.2556G>A,gaG/gaA,LOW,COSM425542(1),0.0529153,0.0456,rs56055011,,,,,,chr1,22927408,22927408,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu852Glu/c.2556G>A|1005|EPHA8|protein_coding|CODING|NM_020526.3|15|1),"K562:USF1,H1ESC:USF1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.1145,0.0331,0.0795,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,C1QA,SILENT,NM_015991.2:p.Gly92Gly/c.276A>G,ggA/ggG,LOW,COSM3721050(2),0.616414,0.6111,rs172378,1(T),,,-0.9378(T),,chr1,22965438,22965438,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly92Gly/c.276A>G|245|C1QA|protein_coding|CODING|NM_015991.2|3|1),"IMR90:H3K27me3,NH-A:H3K27me3",,,,0.6278,0.5965,0.3956,0.49,0.71,0.37,,0.920650(N),0.000(P),,0.0000(T),.,-1.053646,5.48,-2.62,-0.215000,-0.601000,-0.296000,0.002000,0.001000,0.000000,0.3476
synonymous_variant,EPHB2,SILENT,NM_004442.6:p.Gly515Gly/c.1545T>C,ggT/ggC,LOW,,0.998203,1,rs309472,,,,,,chr1,23219493,23219493,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly515Gly/c.1545T>C|987|EPHB2|protein_coding|CODING|NM_004442.6|7|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly515Gly/c.1545T>C|986|EPHB2|protein_coding|CODING|NM_017449.3|7|1)","IMR90:H3K36me3,NHEK:H3K27me3,HUVEC:H3K36me3",,,,1,0.9957,0.995,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,LUZP1,MISSENSE,NM_001142546.1:p.Asp868Asn/c.2602G>A,Gac/Aac,MODERATE,,0.746206,0.8065,rs10799790,1(T),"0.0,0.0(B,B)",-1.79(N),-1.0039(T),,chr1,23418153,23418153,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp868Asn/c.2602G>A|1076|LUZP1|protein_coding|CODING|NM_001142546.1|3|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp868Asn/c.2602G>A|1076|LUZP1|protein_coding|CODING|NM_033631.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5613,0.6225,0.827,0.83,0.82,0.83,,0.012449(N),1.000(P),"2.87,2.87,2.87,2.64(T,T,T,T)",0.0000(T),0.012,-0.212251,5.28,2.74,-0.504000,0.315000,0.800000,0.939000,0.591000,0.013000,6.2314
synonymous_variant,LUZP1,SILENT,NM_001142546.1:p.Ser498Ser/c.1494C>T,agC/agT,LOW,,0.690495,0.8065,rs477717,,,,,,chr1,23419261,23419261,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser498Ser/c.1494C>T|1076|LUZP1|protein_coding|CODING|NM_001142546.1|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser498Ser/c.1494C>T|1076|LUZP1|protein_coding|CODING|NM_033631.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.5937,0.828,0.77,0.66,0.83,,,,,,,,,,,,,,,,
missense_variant,LUZP1,MISSENSE,NM_001142546.1:p.Gln461Lys/c.1381C>A,Cag/Aag,MODERATE,,0.676917,0.8065,rs3765407,0.13(T),"0.082,0.116(B,B)",1.59(L),-1.0971(T),,chr1,23419374,23419374,G,T,hom,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln461Lys/c.1381C>A|1076|LUZP1|protein_coding|CODING|NM_001142546.1|3|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln461Lys/c.1381C>A|1076|LUZP1|protein_coding|CODING|NM_033631.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.5922,0.828,0.76,0.62,0.83,,0.076139(N),1.000(P),"2.7,2.7,2.7,2.48(T,T,T,T)",0.0000(T),0.262,1.474599,4.88,3.97,0.655000,2.694000,3.507000,0.904000,0.988000,0.843000,13.1236
missense_variant,LUZP1,MISSENSE,NM_001142546.1:p.Gly458Ser/c.1372G>A,Ggc/Agc,MODERATE,,0.690296,0.8065,rs477830,0.55(T),"0.012,0.012(B,B)",1.445(L),-1.0619(T),,chr1,23419383,23419383,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly458Ser/c.1372G>A|1076|LUZP1|protein_coding|CODING|NM_001142546.1|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly458Ser/c.1372G>A|1076|LUZP1|protein_coding|CODING|NM_033631.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.5937,0.828,0.77,0.66,0.83,,0.000150(D),1.000(P),"2.59,2.59,2.59,2.38(T,T,T,T)",0.0000(T),0.174,1.618453,4.88,3.97,0.655000,1.414000,2.361000,0.298000,0.084000,0.069000,12.7886
synonymous_variant,LUZP1,SILENT,NM_001142546.1:p.Thr300Thr/c.900A>G,acA/acG,LOW,,0.747404,0.8065,rs1983965,,,,,,chr1,23419855,23419855,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr300Thr/c.900A>G|1076|LUZP1|protein_coding|CODING|NM_001142546.1|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr300Thr/c.900A>G|1076|LUZP1|protein_coding|CODING|NM_033631.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.6225,0.828,0.83,0.82,0.83,,,,,,,,,,,,,,,,
synonymous_variant,ZNF436,SILENT,NM_001077195.1:p.His264His/c.792C>T,caC/caT,LOW,COSM146441(3),0.121206,0.1776,rs3795308,,,,,,chr1,23689083,23689083,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His264His/c.792C>T|470|ZNF436|protein_coding|CODING|NM_001077195.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His264His/c.792C>T|470|ZNF436|protein_coding|CODING|NM_030634.2|3|1)","H1ESC:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K9me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3,K562:SETDB1",,,,0.274,0.1066,0.0656,0.06,0.03,0.07,,,,,,,,,,,,,,,,
missense_variant,E2F2,MISSENSE,NM_004091.3:p.Gln226His/c.678G>T,caG/caT,MODERATE,COSM3746872(1),0.355232,0.5992,rs2075995,0.36(T),0.669(P),1.7(L),-0.8762(T),,chr1,23847464,23847464,C,A,het,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln226His/c.678G>T|437|E2F2|protein_coding|CODING|NM_004091.3|4|1),upstream_gene_variant(MODIFIER||958|||LOC101928163||NON_CODING|NR_110799.1||1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3037,0.4092,0.5089,0.38,0.13,0.50,,0.000332(D),0.024(P),-2.0(D),0.0000(T),0.132,2.679578,5.97,5.06,0.655000,1.521000,0.027000,0.981000,1.000000,0.943000,14.1362
missense_variant,ID3,MISSENSE,NM_002167.4:p.Thr105Ala/c.313A>G,Act/Gct,MODERATE,,0.890375,0.9692,rs11574,0.99(T),0.0(B),-0.55(N),-0.9855(T),,chr1,23885498,23885498,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr105Ala/c.313A>G|119|ID3|protein_coding|CODING|NM_002167.4|2|1),"H1ESC:PolII,NHEK:H3K9ac,NH-A:H3K4me3,NHEK:H3K27ac,H1ESC:H3K36me3,GM12878:ZEB1,NH-A:H3K27ac,K562:H3K4me3,HSMM:H3K9ac,HepG2:H3K4me2,IMR90:H3K36me3,HUVEC:H3K4me2,K562:E2F6,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HeLa-S3:H3K27ac,HUVEC:H3K4me3,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,HepG2:H3K36me3,IMR90:H3K56ac,H1ESC:H3K4me2,HepG2:H3K9ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,NHEK:H3K4me2,HepG2:H3K27ac,CD4:H3K4me2,GM12878:H3K79me2,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:PolII,HMEC:H3K4me2,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,H1ESC:H3K4me3,IMR90:H3K4me3,GM06990:H3K4me3",,,,0.9192,0.7392,0.7575,0.82,0.94,0.76,,0.902466(N),1.000(P),-0.56(T),0.0000(T),0.016,-1.671487,5.46,-2.76,-0.871000,-0.734000,-0.616000,0.082000,0.004000,0.000000,4.9085
synonymous_variant,TCEB3,SILENT,NM_003198.2:p.Ser738Ser/c.2214C>T,agC/agT,LOW,,0.200479,0.2698,rs2076345,,,,,,chr1,24083494,24083494,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser738Ser/c.2214C>T|798|TCEB3|protein_coding|CODING|NM_003198.2|10|1),"NH-A:DNase1,HSMM:DNase1,H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:FOSL2,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,GM06990:H3K36me3",,,,0.138,0.2421,0.3101,0.25,0.13,0.31,,,,,,,,,,,,,,,,
synonymous_variant,HMGCL,SILENT,NM_000191.2:p.Leu218Leu/c.654A>G,ctA/ctG,LOW,,0.88738,0.7817,rs719400,,,,-1.0243(T),,chr1,24134721,24134721,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu218Leu/c.654A>G|325|HMGCL|protein_coding|CODING|NM_000191.2|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu147Leu/c.441A>G|254|HMGCL|protein_coding|CODING|NM_001166059.1|5|1)","IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,RCV000078343.1|RCV000125367.1,,0.8415,0.8876,0.9254,0.93,0.96,0.91,,,0.000(P),,0.0000(T),.,0.960563,5.65,4.74,-0.119000,0.768000,0.873000,0.758000,1.000000,0.301000,7.9682
missense_variant,FUCA1,MISSENSE,NM_000147.4:p.Gln286Arg/c.857A>G,cAg/cGg,MODERATE,COSM3746875(2),0.211262,0.2808,rs13551,0(D),0.001(B),1.065(L),-1.0204(T),,chr1,24180962,24180962,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln286Arg/c.857A>G|466|FUCA1|protein_coding|CODING|NM_000147.4|5|1),"HepG2:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,RCV000000726.1,,0.138,0.2464,0.332,0.27,0.15,0.33,,0.915237(N),1.000(P),0.46(T),0.0000(T),0.069,0.717720,4.74,3.6,0.515000,0.839000,0.652000,0.148000,0.002000,0.000000,3.1357
missense_variant,MYOM3,MISSENSE,NM_152372.3:p.Pro853Ser/c.2557C>T,Cca/Tca,MODERATE,COSM3746881(2),0.0888578,0.002,rs35446243,0.45(T),"0.012,0.012(B,B)",-0.03(N),-1.0128(T),,chr1,24406535,24406535,G,A,het,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro853Ser/c.2557C>T|1437|MYOM3|protein_coding|CODING|NM_152372.3|20|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.0818,0.2363,0.1859,0.15,0.04,0.20,,0.094300(N),1.000(P),"0.66,0.66,0.66(T,T,T)",0.0000(T),0.027,0.729060,5.51,1.21,-0.140000,0.691000,0.246000,0.376000,0.357000,0.164000,1.5761
synonymous_variant,MYOM3,SILENT,NM_152372.3:p.Ala815Ala/c.2445C>T,gcC/gcT,LOW,COSM3751052(1),0.354233,0.4276,rs4649175,,,,,,chr1,24406647,24406647,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala815Ala/c.2445C>T|1437|MYOM3|protein_coding|CODING|NM_152372.3|20|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.2362,0.3444,0.4423,0.39,0.31,0.42,,,,,,,,,,,,,,,,
missense_variant,MYOM3,MISSENSE,NM_152372.3:p.Gly662Arg/c.1984G>A,Ggg/Agg,MODERATE,COSM3751053(1),0.256789,0.4266,rs4320729,0.03(D),"0.999,0.997(D,D)",2.425(M),-1.0249(T),,chr1,24409191,24409191,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly662Arg/c.1984G>A|1437|MYOM3|protein_coding|CODING|NM_152372.3|17|1),"GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.1769,0.3213,0.4364,0.31,0.08,0.42,,0.000003(D),0.000(P),"0.06,0.06,0.06(T,T,T)",0.0000(T),0.454,3.701981,5.41,5.41,0.557000,2.546000,5.783000,0.308000,0.922000,1.000000,19.1966
synonymous_variant,MYOM3,SILENT,NM_152372.3:p.Glu591Glu/c.1773A>G,gaA/gaG,LOW,COSM3746882(2),0.3748,0.4623,rs6424152,,,,,,chr1,24413159,24413159,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu591Glu/c.1773A>G|1437|MYOM3|protein_coding|CODING|NM_152372.3|15|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.2403,0.353,0.4463,0.40,0.35,0.43,,,,,,,,,,,,,,,,
missense_variant,MYOM3,MISSENSE,NM_152372.3:p.Asp528Gly/c.1583A>G,gAc/gGc,MODERATE,COSM4143595(1),0.978834,1,rs4393101,1(T),"0.0,0.0(B,B)",-3.4(N),-0.9350(T),,chr1,24416059,24416059,T,C,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp528Gly/c.1583A>G|1437|MYOM3|protein_coding|CODING|NM_152372.3|14|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,1,0.9841,0.999,0.98,0.94,1.00,,0.000000(N),0.000(P),"0.83,0.83,0.83(T,T,T)",0.0000(T),0.14,0.013710,5.29,5.29,-0.119000,1.261000,4.654000,0.271000,1.000000,1.000000,14.1513
synonymous_variant,MYOM3,SILENT,NM_152372.3:p.Pro524Pro/c.1572C>G,ccC/ccG,LOW,COSM3751056(1),0.500599,0.7321,rs7533060,,,,,,chr1,24416070,24416070,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro524Pro/c.1572C>G|1437|MYOM3|protein_coding|CODING|NM_152372.3|14|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.3885,0.4078,0.5,0.47,0.43,0.49,,,,,,,,,,,,,,,,
synonymous_variant,MYOM3,SILENT,NM_152372.3:p.Pro376Pro/c.1128A>G,ccA/ccG,LOW,COSM3751060(1),0.376198,0.3522,rs7556176,,,,,,chr1,24418768,24418768,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro376Pro/c.1128A>G|1437|MYOM3|protein_coding|CODING|NM_152372.3|11|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.2188,0.3199,0.4662,0.45,0.45,0.45,,,,,,,,,,,,,,,,
missense_variant,MYOM3,MISSENSE,NM_152372.3:p.Met344Thr/c.1031T>C,aTg/aCg,MODERATE,COSM4143596(1),0.378994,0.3512,rs4233050,1(T),"0.0,0.0,0.0(B,B,B)",-2.605(N),-0.9941(T),,chr1,24419496,24419496,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met344Thr/c.1031T>C|1437|MYOM3|protein_coding|CODING|NM_152372.3|10|1),"GM06990:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2321,0.3242,0.496,0.46,0.44,0.48,,0.000514(N),0.680(P),"1.29,1.29,1.29(T,T,T)",0.0000(T),0.033,-2.444953,5.36,-3.19,-0.777000,-0.586000,0.243000,0.189000,0.007000,0.134000,6.2063
missense_variant,MYOM3,MISSENSE,NM_152372.3:p.Thr266Met/c.797C>T,aCg/aTg,MODERATE,COSM3746885(1),0.319888,0.3383,rs6678540,0.62(T),"0.004,0.0(B,B)",-0.69(N),-0.9188(T),,chr1,24421474,24421474,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr266Met/c.797C>T|1437|MYOM3|protein_coding|CODING|NM_152372.3|9|1),"K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,K562:CTCF,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,HSMM:H3K27me3",,,,0.2209,0.2911,0.4771,0.40,0.27,0.45,,0.124919(N),1.000(P),"0.53,0.53,0.49(T,T,T)",0.0000(T),0.079,0.660523,5.18,4.06,-0.381000,0.810000,2.024000,0.591000,0.674000,0.108000,7.2915
missense_variant,MYOM3,MISSENSE,NM_152372.3:p.Asp258His/c.772G>C,Gat/Cat,MODERATE,COSM3751063(2),0.410543,0.377,rs4319261,0.36(T),"0.097,0.869(B,P)",0.585(N),-0.9026(T),,chr1,24421950,24421950,C,G,hom,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp258His/c.772G>C|1437|MYOM3|protein_coding|CODING|NM_152372.3|8|1),"GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,HSMM:H3K27me3",,,,0.2301,0.3386,0.497,0.48,0.50,0.47,,0.005498(N),0.000(P),"0.38,0.39,0.34(T,T,T)",0.0000(T),0.637,0.783923,5.81,5.81,0.558000,2.764000,4.329000,0.902000,1.000000,1.000000,17.0405
missense_variant,IL22RA1,MISSENSE,NM_021258.3:p.Arg518Gly/c.1552C>G,Cgt/Ggt,MODERATE,COSM3751064(1),0.466254,0.7252,rs3795299,0.32(T),0.039(B),0(N),-0.9742(T),,chr1,24447468,24447468,G,C,hom,missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg518Gly/c.1552C>G|574|IL22RA1|protein_coding|CODING|NM_021258.3|7|1),"GM06990:H3K27me3,K562:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K36me3,HepG2:H3K27ac",,,,0.5542,0.4035,0.3996,0.37,0.30,0.41,,0.248041(N),1.000(P),3.11(T),0.0000(T),0.094,0.687230,5.17,4.24,0.650000,1.394000,1.837000,0.006000,0.173000,0.973000,11.3002
synonymous_variant,IL22RA1,SILENT,NM_021258.3:p.Pro45Pro/c.135G>A,ccG/ccA,LOW,COSM3746889(3),0.470647,0.7619,rs10903022,,,,,,chr1,24465113,24465113,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro45Pro/c.135G>A|574|IL22RA1|protein_coding|CODING|NM_021258.3|2|1),"IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5276,0.5231,0.3628,0.34,0.27,0.38,,,,,,,,,,,,,,,,
missense_variant,IFNLR1,MISSENSE,NM_170743.3:p.Arg6Gly/c.16C>G,Cgc/Ggc,MODERATE,,0.0091853,0.001,rs139958347,0.02(D),"0.047,0.07,0.069,0.103(B,B,B,B)",1.04(L),-1.0375(T),,chr1,24513723,24513723,G,C,het,"missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg6Gly/c.16C>G|520|IFNLR1|protein_coding|CODING|NM_170743.3|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg6Gly/c.16C>G|491|IFNLR1|protein_coding|CODING|NM_173064.2|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg6Gly/c.16C>G|244|IFNLR1|protein_coding|CODING|NM_173065.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:DNase1,GM12878:EBF,NHEK:H3K4me3,K562:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:PolII,GM12878:H3K27me3,HepG2:H3K4me3,CD4:DNase1,IMR90:H3K27me3,HepG2:H3K9ac,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,H1ESC:DNase1,HepG2:USF1,GM12878:DNase1,HepG2:H3K27me3,HepG2:PolII,HMEC:H3K4me2,HepG2:Yy1,GM12878:ELF1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1",,,,0.0072,0.0086,0.0318,,,,,0.066288(N),1.000(N),,0.0254(T),0.198,2.211562,3.85,1.88,0.407000,0.370000,0.902000,0.474000,0.000000,0.002000,5.2698
missense_variant,GRHL3,MISSENSE,NM_198174.2:p.Val160Ala/c.479T>C,gTg/gCg,MODERATE,,0.0175719,0,rs34637004,0.51(T),"0.0,0.0,0.0(B,B,B)",0.205(N),-0.9461(T),,chr1,24663184,24663184,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val114Ala/c.341T>C|556|GRHL3|protein_coding|CODING|NM_001195010.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val165Ala/c.494T>C|607|GRHL3|protein_coding|CODING|NM_021180.3|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val160Ala/c.479T>C|602|GRHL3|protein_coding|CODING|NM_198173.2|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val160Ala/c.479T>C|626|GRHL3|protein_coding|CODING|NM_198174.2|4|1)","K562:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0143,0.0231,0.0567,0.03,0.01,0.04,,0.150415(N),1.000(N),"3.03,2.83,3.01,3.03,3.02(T,T,T,T,T)",0.0023(T),0.05,0.548347,6.02,3.72,0.533000,1.116000,0.403000,0.856000,1.000000,0.997000,2.5509
missense_variant,GRHL3,MISSENSE,NM_198174.2:p.Asn484Ser/c.1451A>G,aAc/aGc,MODERATE,,0.0181709,0,rs116396279,0.84(T),"0.0,0.002,0.001(B,B,B)",-0.695(N),-0.9017(T),,chr1,24671418,24671418,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn438Ser/c.1313A>G|556|GRHL3|protein_coding|CODING|NM_001195010.1|12|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn489Ser/c.1466A>G|607|GRHL3|protein_coding|CODING|NM_021180.3|12|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn484Ser/c.1451A>G|602|GRHL3|protein_coding|CODING|NM_198173.2|12|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn484Ser/c.1451A>G|626|GRHL3|protein_coding|CODING|NM_198174.2|12|1)","GM12878:ZEB1,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0133,0.0231,0.0596,0.03,0.01,0.05,,0.436214(N),0.714(D),"3.03,2.82,3.02,3.03,3.03(T,T,T,T,T)",0.0012(T),0.039,0.595687,5.04,-0.14,-0.408000,-0.113000,0.882000,0.615000,0.994000,0.999000,8.0001
synonymous_variant,STPG1,SILENT,NM_001199012.1:p.Gln55Gln/c.165A>G,caA/caG,LOW,COSM3751081(3),0.281749,0.4593,rs2294520,,,,-0.8857(T),,chr1,24718075,24718075,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln55Gln/c.165A>G|334|STPG1|protein_coding|CODING|NM_001199012.1|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln55Gln/c.165A>G|334|STPG1|protein_coding|CODING|NM_001199013.1|3|1),5_prime_UTR_variant(MODIFIER||7669|c.-112A>G|242|STPG1|protein_coding|CODING|NM_001199014.1|4|1),intron_variant(MODIFIER|||c.49-7582A>G|287|STPG1|protein_coding|CODING|NM_178122.4|2|1)","NHEK:CTCF,NHEK:H3K9ac,NH-A:DNase1,HSMM:DNase1,NHEK:H3K27ac,HeLa-S3:DNase1,HMEC:CTCF,HUVEC:H3K4me2,HMEC:H3K9ac,CD4:H2BK5ac,NH-A:CTCF,K562:Rad21,H1ESC:H3K9me3,CD4:DNase1,NHEK:H3K36me3,GM12878:H3K27ac,CD4:CTCF,K562:CTCF,HepG2:CTCF,GM12878:Rad21,HUVEC:H3K9ac,NHEK:H3K4me2,HUVEC:CTCF,IMR90:DNase1,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:DNase1,HMEC:H3K27ac,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,GM06990:CTCF,HUVEC:DNase1",,,,0.2873,0.379,0.2753,,,,,,0.000(P),,0.0000(T),.,1.122403,5.28,5.28,0.533000,2.130000,3.953000,0.943000,1.000000,1.000000,11.8884
synonymous_variant,NIPAL3,SILENT,NM_020448.4:p.Ala263Ala/c.789C>T,gcC/gcT,LOW,COSM3746894(2),0.30631,0.4534,rs2272935,,,,-0.9232(T),,chr1,24785393,24785393,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala263Ala/c.789C>T|406|NIPAL3|protein_coding|CODING|NM_020448.4|9|1),"IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.4409,0.2773,0.23,0.16,0.26,,,0.000(P),,0.0000(T),.,3.098373,5.86,1.62,0.563000,0.366000,0.530000,0.997000,1.000000,0.998000,1.4986
synonymous_variant,RCAN3,SILENT,NM_001251977.1:p.Pro138Pro/c.414G>A,ccG/ccA,LOW,COSM3746902(2),0.383586,0.6786,rs196429,,,,,,chr1,24859617,24859617,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro138Pro/c.414G>A|241|RCAN3|protein_coding|CODING|NM_001251977.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro138Pro/c.414G>A|241|RCAN3|protein_coding|CODING|NM_001251978.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro138Pro/c.414G>A|241|RCAN3|protein_coding|CODING|NM_001251979.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro80Pro/c.240G>A|183|RCAN3|protein_coding|CODING|NM_001251981.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro13Pro/c.39G>A|116|RCAN3|protein_coding|CODING|NM_001251983.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro13Pro/c.39G>A|116|RCAN3|protein_coding|CODING|NM_001251984.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro138Pro/c.414G>A|241|RCAN3|protein_coding|CODING|NM_013441.3|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro128Pro/c.384G>A|231|RCAN3|protein_coding|CODING|NM_001251980.1|3|1),intron_variant(MODIFIER|||c.196-1966G>A|115|RCAN3|protein_coding|CODING|NM_001251985.1|1|1),intron_variant(MODIFIER|||c.369+1736G>A|173|RCAN3|protein_coding|CODING|NM_001251982.1|2|1)","IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.3661,0.3314,0.3221,0.30,0.27,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RCAN3,SILENT,NM_001251977.1:p.Pro154Pro/c.462G>A,ccG/ccA,LOW,COSM3746903(2),0.383586,0.6776,rs196430,,,,,,chr1,24859665,24859665,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro154Pro/c.462G>A|241|RCAN3|protein_coding|CODING|NM_001251977.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro154Pro/c.462G>A|241|RCAN3|protein_coding|CODING|NM_001251978.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro154Pro/c.462G>A|241|RCAN3|protein_coding|CODING|NM_001251979.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro96Pro/c.288G>A|183|RCAN3|protein_coding|CODING|NM_001251981.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro29Pro/c.87G>A|116|RCAN3|protein_coding|CODING|NM_001251983.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro29Pro/c.87G>A|116|RCAN3|protein_coding|CODING|NM_001251984.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro154Pro/c.462G>A|241|RCAN3|protein_coding|CODING|NM_013441.3|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro144Pro/c.432G>A|231|RCAN3|protein_coding|CODING|NM_001251980.1|3|1),intron_variant(MODIFIER|||c.196-1918G>A|115|RCAN3|protein_coding|CODING|NM_001251985.1|1|1),intron_variant(MODIFIER|||c.369+1784G>A|173|RCAN3|protein_coding|CODING|NM_001251982.1|2|1)","IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3",,,,0.3671,0.3314,0.3221,0.30,0.27,0.32,,,,,,,,,,,,,,,,
missense_variant,RCAN3,MISSENSE,NM_001251982.1:p.Arg164Gln/c.491G>A,cGa/cAa,MODERATE,COSM1341222(2),0.509185,0.7272,rs196432,0.87(T),"0.005,0.0(B,B)",,-1.0293(T),,chr1,24861704,24861704,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg164Gln/c.491G>A|173|RCAN3|protein_coding|CODING|NM_001251982.1|3|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg106Gln/c.317G>A|115|RCAN3|protein_coding|CODING|NM_001251985.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr221Thr/c.663G>A|241|RCAN3|protein_coding|CODING|NM_001251977.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr221Thr/c.663G>A|241|RCAN3|protein_coding|CODING|NM_001251978.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr221Thr/c.663G>A|241|RCAN3|protein_coding|CODING|NM_001251979.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr211Thr/c.633G>A|231|RCAN3|protein_coding|CODING|NM_001251980.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr163Thr/c.489G>A|183|RCAN3|protein_coding|CODING|NM_001251981.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr96Thr/c.288G>A|116|RCAN3|protein_coding|CODING|NM_001251983.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr96Thr/c.288G>A|116|RCAN3|protein_coding|CODING|NM_001251984.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr221Thr/c.663G>A|241|RCAN3|protein_coding|CODING|NM_013441.3|5|1)","IMR90:H3K36me3,K562:E2F6,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,NHEK:H3K36me3,CD4:H2BK20ac,CD4:H3K4ac,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:PolII,CD4:H2BK120ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM06990:DNase1,K562:DNase1,GM06990:H3K4me3",,,,0.4724,0.4006,0.4573,0.46,0.46,0.46,,,0.000(P),,0.0000(T),.,-1.348475,5.78,-11.6,-1.753000,-4.477000,-3.588000,0.036000,0.000000,0.000000,9.401
missense_variant,RUNX3,MISSENSE,NM_001031680.2:p.Ile18Asn/c.53T>A,aTc/aAc,MODERATE,COSM3751117(2),0.577676,0.6885,rs6672420,0.01(D),"0.994,0.9(D,P)",0.69(N),-0.9027(T),,chr1,25291010,25291010,A,T,het,missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile18Asn/c.53T>A|429|RUNX3|protein_coding|CODING|NM_001031680.2|1|1),"NHEK:H3K27me3,GM12878:H3K4me3,GM12878:PolII,GM12878:H3K27ac,IMR90:H3K27me3,GM12878:H3K79me2,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:H3K4me3",,,,0.6789,0.719,0.5209,0.46,0.42,0.48,,0.414386(N),0.000(P),"-4.2,-4.2(D,D)",0.0000(T),0.11,1.947479,5.67,5.67,0.459000,2.163000,5.452000,0.294000,1.000000,1.000000,12.3158
missense_variant,RSRP1,MISSENSE,NM_020317.3:p.Glu239Gly/c.716A>G,gAa/gGa,MODERATE,,0.107827,0.0327,rs1043879,0.04(D),0.063(B),1.59(L),-1.0362(T),,chr1,25570081,25570081,T,C,het,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu239Gly/c.716A>G|290|RSRP1|protein_coding|CODING|NM_020317.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",Erythrocyte_sedimentation_rate,,,0.0726,0.2089,0.2724,0.20,0.05,0.27,,0.290259(N),0.000(P),"1.36,1.41(T,T)",0.0000(T),0.198,0.936144,5.1,3.97,0.477000,0.969000,1.995000,0.052000,0.182000,1.000000,8.5213
missense_variant,LDLRAP1,MISSENSE,NM_015627.2:p.Ser202Pro/c.604T>C,Tcc/Ccc,MODERATE,,0.434904,0.4425,rs6687605,0.3(T),"0.048,0.035(B,B)",1.655(L),-0.9277(T),,chr1,25889632,25889632,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser202Pro/c.604T>C|308|LDLRAP1|protein_coding|CODING|NM_015627.2|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,NHEK:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:PolII,CD4:H2BK120ac,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.4366,0.5101,0.5239,0.47,0.34,0.53,,0.251599(N),1.000(P),0.36(T),0.0000(T),0.023,1.573662,5.51,-2.44,-4.093000,-0.325000,-0.615000,0.002000,0.000000,0.000000,2.2127
synonymous_variant,LDLRAP1,SILENT,NM_015627.2:p.Thr218Thr/c.654A>G,acA/acG,LOW,COSM3751120(1),0.586262,0.4435,rs28969504,,,,,,chr1,25890189,25890189,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr218Thr/c.654A>G|308|LDLRAP1|protein_coding|CODING|NM_015627.2|7|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,GM06990:H3K36me3",,,,0.453,0.5951,0.5338,0.63,0.78,0.56,,,,,,,,,,,,,,,,
missense_variant,SEPN1,MISSENSE,NM_020451.2:p.Cys142Tyr/c.425G>A,tGc/tAc,MODERATE,,0.841853,0.9395,rs386500767,1(T),"0.0,0.0(B,B)",0.805(L),-0.9073(T),,chr1,26131654,26131654,G,A,hom,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys142Tyr/c.425G>A|590|SEPN1|protein_coding|CODING|NM_020451.2|4|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys108Tyr/c.323G>A|556|SEPN1|protein_coding|CODING|NM_206926.1|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H4K91ac,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HUVEC:H3K4me1",,RCV000082016.2,,0.8998,0.8919,0.7803,,,,,0.076183(N),1.000(P),"0.68,3.02,3.02(T,T,T)",0.0000(T),0.193,-1.181201,4.19,1.58,-0.521000,0.168000,0.962000,0.102000,0.645000,0.473000,0.9701
synonymous_variant,SEPN1,SILENT,NM_020451.2:p.Pro391Pro/c.1173T>C,ccT/ccC,LOW,COSM1127046(1),0.791933,0.9683,rs760597,,,,,,chr1,26138262,26138262,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro391Pro/c.1173T>C|590|SEPN1|protein_coding|CODING|NM_020451.2|9|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro357Pro/c.1071T>C|556|SEPN1|protein_coding|CODING|NM_206926.1|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,RCV000082009.2,,0.9018,0.8516,0.7753,0.74,0.63,0.79,,,,,,,,,,,,,,,,
missense_variant,SEPN1,MISSENSE,NM_020451.2:p.Asn502Lys/c.1506C>A,aaC/aaA,MODERATE,COSM4143697(1),0.697484,0.9683,rs2294228,0.11(T),"0.001,0.001(B,B)",1.39(L),-0.9975(T),,chr1,26140573,26140573,C,A,hom,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn502Lys/c.1506C>A|590|SEPN1|protein_coding|CODING|NM_020451.2|12|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn468Lys/c.1404C>A|556|SEPN1|protein_coding|CODING|NM_206926.1|11|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:CTCF,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,RCV000082012.2,,0.9018,0.8285,0.7753,0.63,0.32,0.79,,0.053673(N),0.100(P),"-2.36,-2.36,-2.36(D,D,D)",0.0000(T),0.079,1.179976,5.57,2.58,0.561000,0.271000,0.158000,0.165000,0.244000,0.017000,7.686
synonymous_variant,EXTL1,SILENT,NM_004455.2:p.Leu382Leu/c.1146G>A,ctG/ctA,LOW,COSM146451(3),0.149361,0.1845,rs11247848,,,,,,chr1,26357667,26357667,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu382Leu/c.1146G>A|676|EXTL1|protein_coding|CODING|NM_004455.2|5|1),HepG2:H3K27me3,,,,0.0736,0.1484,0.1859,0.19,0.16,0.20,,,,,,,,,,,,,,,,
missense_variant,TRIM63,MISSENSE,NM_032588.3:p.Lys237Glu/c.709A>G,Aaa/Gaa,MODERATE,COSM146453(1),0.182308,0.1706,rs2275950,1(T),0.0(B),-2.47(N),-0.9848(T),,chr1,26385003,26385003,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys237Glu/c.709A>G|353|TRIM63|protein_coding|CODING|NM_032588.3|5|1),"HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.0838,0.1239,0.2187,0.24,0.27,0.22,,0.000069(N),1.000(P),1.02(T),0.0000(T),0.019,0.720876,5.5,5.5,-0.215000,1.336000,2.222000,0.788000,1.000000,0.957000,14.2207
missense_variant,FAM110D,MISSENSE,NM_024869.2:p.His53Arg/c.158A>G,cAc/cGc,MODERATE,COSM3749044(3),0.1877,0.2718,rs3748856,0.41(T),0.326(B),0.14(N),-0.9466(T),,chr1,26487940,26487940,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His53Arg/c.158A>G|271|FAM110D|protein_coding|CODING|NM_024869.2|2|1),"K562:H3K4me3,K562:PolII,K562:E2F6,GM06990:H3K27me3,NHEK:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,IMR90:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,K562:H3K4me2,H1ESC:H3K4me3,K562:DNase1,HUVEC:DNase1",,,,0.1288,0.2305,0.325,0.22,0.07,0.30,,0.069960(U),0.894(P),1.08(T),0.0000(T),0.096,-0.518641,4.42,4.42,0.443000,1.993000,1.046000,0.417000,0.898000,0.006000,13.0775
missense_variant,CATSPER4,MISSENSE,NM_198137.1:p.Asp436Asn/c.1306G>A,Gac/Aac,MODERATE,COSM4143709(1),0.210264,0.0218,rs6657616,0.12(T),0.251(B),1.355(L),-1.1902(T),,chr1,26527951,26527951,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp436Asn/c.1306G>A|472|CATSPER4|protein_coding|CODING|NM_198137.1|9|1),"NHEK:CTCF,K562:Max,K562:Cmyc,K562:E2F6,K562:PolII,K562:Cjun,HUVEC:H3K27me3,K562:H3K9ac,CD4:H2BK5ac,CD4:H3K36ac,K562:H3K27ac,CD4:H3K4me1,K562:Egr1,K562:Rad21,CD4:H4K91ac,K562:CTCF,CD4:H2BK20ac,K562:TFIIIC-110,CD4:H3K4ac,IMR90:H3K27me3,H1ESC:H3K4me2,K562:FAIRE,H1ESC:H3K27me3,HMEC:DNase1,H1ESC:DNase1,HepG2:H3K27me3,CD4:H3K27ac,K562:H3K4me2,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,K562:E2F4,K562:Jund",,,,0.1575,0.1657,0.2654,0.29,0.34,0.26,,0.028916(N),1.000(P),"-4.39,-4.36(D,D)",0.0000(T),0.08,3.633953,5.1,3.1,0.313000,2.393000,1.622000,0.149000,0.018000,0.025000,5.74
missense_variant,CEP85,MISSENSE,NM_022778.3:p.Ser213Asn/c.638G>A,aGc/aAc,MODERATE,COSM3997449(2),0.186302,0.2599,rs3795686,1(T),"0.001,0.0,0.001(B,B,B)",-0.205(N),-0.9333(T),,chr1,26582091,26582091,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser162Asn/c.485G>A|711|CEP85|protein_coding|CODING|NM_001281517.1|3|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser213Asn/c.638G>A|762|CEP85|protein_coding|CODING|NM_022778.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.1299,0.2363,0.3022,0.24,0.09,0.31,,0.000320(D),0.995(P),"2.78,2.78(T,T)",0.0000(T),0.004,-1.133765,5.43,4.24,-0.290000,1.069000,1.327000,0.019000,0.241000,0.005000,9.9193
synonymous_variant,UBXN11,SILENT,NM_183008.2:p.Pro513Pro/c.1539T>C,ccT/ccC,LOW,COSM4143711(1),0.75,0.5169,rs6672357,,,,,,chr1,26608814,26608814,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro393Pro/c.1179T>C|400|UBXN11|protein_coding|CODING|NM_001077262.1|11|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro480Pro/c.1440T>C|487|UBXN11|protein_coding|CODING|NM_145345.2|15|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro513Pro/c.1539T>C|520|UBXN11|protein_coding|CODING|NM_183008.2|16|1),downstream_gene_variant(MODIFIER||801||93|SH3BGRL3|protein_coding|CODING|NM_031286.3||1)","NH-A:DNase1,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,GM06990:H3K36me3",,,,0.638,0.7219,0.9324,,,,,,,,,,,,,,,,,,,
synonymous_variant,UBXN11,SILENT,NM_183008.2:p.Thr391Thr/c.1173G>A,acG/acA,LOW,COSM4143717(2),0.384585,0.3095,rs7522905,,,,,,chr1,26609259,26609259,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr271Thr/c.813G>A|400|UBXN11|protein_coding|CODING|NM_001077262.1|10|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr358Thr/c.1074G>A|487|UBXN11|protein_coding|CODING|NM_145345.2|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr391Thr/c.1173G>A|520|UBXN11|protein_coding|CODING|NM_183008.2|15|1),downstream_gene_variant(MODIFIER||1246||93|SH3BGRL3|protein_coding|CODING|NM_031286.3||1)","IMR90:H3K4me1,H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,IMR90:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H4K5ac,CD4:PolII,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,GM06990:H3K36me3",,,,0.2853,0.3948,0.6282,0.58,0.42,0.66,,,,,,,,,,,,,,,,
missense_variant,UBXN11,MISSENSE,NM_183008.2:p.Leu312Arg/c.935T>G,cTg/cGg,MODERATE,COSM3997450(3),0.727037,0.4603,rs4332350,0.55(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.61(N),-1.0207(T),,chr1,26610891,26610891,A,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu192Arg/c.575T>G|400|UBXN11|protein_coding|CODING|NM_001077262.1|7|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu279Arg/c.836T>G|487|UBXN11|protein_coding|CODING|NM_145345.2|11|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu312Arg/c.935T>G|520|UBXN11|protein_coding|CODING|NM_183008.2|12|1)","IMR90:H3K4ac,IMR90:H3K4me1,H1ESC:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K18ac,IMR90:H3K27ac,CD4:H2BK5ac,K562:H3K27ac,CD4:H3K4me1,CD4:H4K91ac,NHEK:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,CD4:H3K4ac,HMEC:H3K4me1,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:PolII,HUVEC:H3K4me1,IMR90:H3K18ac,HSMM:H3K36me3,CD4:H3K27ac,GM06990:H3K36me3",,,,0.6053,0.6945,0.9304,0.92,0.88,0.94,,0.371821(N),1.000(P),"2.35,2.37,2.63,2.63,2.63,2.63(T,T,T,T,T,T)",0.0000(T),0.268,-0.474763,3.75,-2.06,-0.323000,-0.475000,-0.442000,0.032000,0.005000,0.000000,3.1252
synonymous_variant,UBXN11,SILENT,NM_183008.2:p.Ser46Ser/c.138A>G,tcA/tcG,LOW,COSM3997451(1),0.567292,0.4385,rs2276712,,,,,,chr1,26627478,26627478,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser46Ser/c.138A>G|400|UBXN11|protein_coding|CODING|NM_001077262.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser46Ser/c.138A>G|520|UBXN11|protein_coding|CODING|NM_183008.2|5|1),intron_variant(MODIFIER|||c.100+707A>G|487|UBXN11|protein_coding|CODING|NM_145345.2|4|1)","HeLa-S3:DNase1,HeLa-S3:Ap2alpha,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.4939,0.5735,0.7356,0.73,0.65,0.77,,,,,,,,,,,,,,,,
missense_variant,CD52,MISSENSE,NM_001803.2:p.Asn40Ser/c.119A>G,aAc/aGc,MODERATE,COSM1180632(2),0.580671,0.4415,rs1071849,0.53(T),0.007(B),,-1.0128(T),,chr1,26646726,26646726,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn40Ser/c.119A>G|61|CD52|protein_coding|CODING|NM_001803.2|2|1),upstream_gene_variant(MODIFIER||1970||487|UBXN11|protein_coding|CODING|NM_145345.2||1),downstream_gene_variant(MODIFIER||1624||1661|AIM1L|protein_coding|CODING|NM_001039775.3||1)","H1ESC:H3K36me3,NHEK:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:PolII,CD4:H4K20me1,GM06990:H3K36me3",,,,0.498,0.5807,0.7356,0.73,0.67,0.77,,0.492766(N),1.000(P),1.72(T),0.0000(T),0.02,1.508807,4.33,-1.87,0.533000,-0.296000,0.157000,0.001000,0.000000,0.000000,4.2777
missense_variant,CD52,MISSENSE,NM_001803.2:p.Ile41Met/c.123A>G,atA/atG,MODERATE,COSM1180633(4),0.580671,0.4415,rs17645,0.54(T),0.001(B),,-0.9723(T),,chr1,26646730,26646730,A,G,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile41Met/c.123A>G|61|CD52|protein_coding|CODING|NM_001803.2|2|1),upstream_gene_variant(MODIFIER||1974||487|UBXN11|protein_coding|CODING|NM_145345.2||1),downstream_gene_variant(MODIFIER||1620||1661|AIM1L|protein_coding|CODING|NM_001039775.3||1)","H1ESC:H3K36me3,NHEK:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:PolII,CD4:H4K20me1,GM06990:H3K36me3",,,,0.498,0.5807,0.7356,0.73,0.67,0.77,,0.258020(N),1.000(P),1.53(T),0.0000(T),0.062,0.413339,4.33,3.42,-0.735000,0.796000,0.087000,0.000000,0.004000,0.000000,7.1657
missense_variant,AIM1L,MISSENSE,NM_001039775.3:p.Ser1294Asn/c.3881G>A,aGc/aAc,MODERATE,COSM3746915(1),0.455871,0.1825,rs10751735,0.37(T),"0.006,0.003(B,B)",0.49(N),-0.9431(T),,chr1,26663362,26663362,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1294Asn/c.3881G>A|1661|AIM1L|protein_coding|CODING|NM_001039775.3|11|1),"K562:USF1,HeLa-S3:Cmyc,K562:Max,GM12878:ZEB1,K562:Gabp,K562:H3K4me3,K562:Cmyc,HeLa-S3:DNase1,K562:E2F6,K562:PolII,HeLa-S3:PolII,HUVEC:H3K27me3,K562:H3K9ac,K562:H3K27ac,HeLa-S3:Max,CD4:DNase1,NHEK:H3K36me3,K562:H3K4me1,IMR90:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:DNase1,H1ESC:DNase1,HMEC:H3K4me2,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:H2AZ,NH-A:H3K27me3,K562:DNase1,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20,HUVEC:DNase1",,,,0.4315,0.3833,0.5308,0.56,0.63,0.52,,0.641508(N),1.000(P),"-0.97,-0.97(T,T)",0.0000(T),0.052,1.964309,4.5,-3.51,0.655000,-0.421000,-0.011000,0.948000,0.018000,0.000000,2.4848
missense_variant,AIM1L,MISSENSE,NM_001039775.3:p.Ser902Tyr/c.2705C>A,tCc/tAc,MODERATE,,0.20647,0.2669,rs36024412,0(D),,0.55(N),-1.0891(T),,chr1,26670444,26670444,G,T,het,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser902Tyr/c.2705C>A|1661|AIM1L|protein_coding|CODING|NM_001039775.3|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.1462,0.2478,0.2962,,,,,,0.000(P),-1.14(T),0.0000(T),0.374,3.460150,5.43,5.43,0.655000,2.560000,4.024000,0.549000,1.000000,1.000000,15.9693
missense_variant,AIM1L,MISSENSE,NM_001039775.3:p.Arg847His/c.2540G>A,cGc/cAc,MODERATE,,0.204872,0.2659,rs34370465,,,,,,chr1,26670609,26670609,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg847His/c.2540G>A|1661|AIM1L|protein_coding|CODING|NM_001039775.3|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.1452,0.2478,0.2913,,,,,,,,,,,,,,,,,,,
synonymous_variant,AIM1L,SILENT,NM_001039775.3:p.Thr799Thr/c.2397G>A,acG/acA,LOW,,0.204872,0.1438,rs11247923,,,,,,chr1,26670752,26670752,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr799Thr/c.2397G>A|1661|AIM1L|protein_coding|CODING|NM_001039775.3|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.2342,0.2003,0.1928,,,,,,,,,,,,,,,,,,,
missense_variant,AIM1L,MISSENSE,NM_001039775.3:p.Pro689Thr/c.2065C>A,Ccc/Acc,MODERATE,,0.180911,0.1458,rs12562454,,,,,,chr1,26671084,26671084,G,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro689Thr/c.2065C>A|1661|AIM1L|protein_coding|CODING|NM_001039775.3|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.2331,0.1931,0.1918,,,,,,,,,,,,,,,,,,,
missense_variant,AIM1L,MISSENSE,NM_001039775.3:p.Val634Ala/c.1901T>C,gTc/gCc,MODERATE,,0.18111,0.1458,rs57268417,,,,,,chr1,26671248,26671248,A,G,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val634Ala/c.1901T>C|1661|AIM1L|protein_coding|CODING|NM_001039775.3|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.2342,0.1931,0.1918,,,,,,,,,,,,,,,,,,,
missense_variant,AIM1L,MISSENSE,NM_001039775.3:p.Arg25Trp/c.73C>T,Cgg/Tgg,MODERATE,,0.179513,0.1458,rs11247924,0.04(D),0.994(D),0.895(L),-1.0613(T),,chr1,26673076,26673076,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg25Trp/c.73C>T|1661|AIM1L|protein_coding|CODING|NM_001039775.3|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2311,0.1931,0.1918,0.18,0.14,0.19,,,0.000(P),1.97(T),0.0001(T),0.272,3.724308,5.04,3.01,0.655000,1.096000,0.700000,0.970000,1.000000,0.127000,9.8058
missense_variant,AIM1L,MISSENSE,NM_001039775.3:p.Arg14Gln/c.41G>A,cGa/cAa,MODERATE,COSM4143725(1),0.179313,0.1438,rs11247925,1(T),0.087(B),0.895(L),-1.0128(T),,chr1,26673108,26673108,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg14Gln/c.41G>A|1661|AIM1L|protein_coding|CODING|NM_001039775.3|2|1),"H1ESC:H3K36me3,CD4:H4K91ac,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2321,0.1931,0.1918,0.17,0.14,0.19,,,0.000(P),2.2(T),0.0000(T),0.064,2.270057,5.29,2.41,0.655000,0.242000,0.092000,0.572000,0.996000,0.405000,5.4485
missense_variant,ZNF683,MISSENSE,NM_001114759.1:p.Arg288Leu/c.863G>T,cGt/cTt,MODERATE,,0.263379,0.2778,rs11247933,0.69(T),"0.017,0.008(B,B)",0.55(N),-0.9326(T),,chr1,26691174,26691174,C,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg288Leu/c.863G>T|504|ZNF683|protein_coding|CODING|NM_001114759.1|4|1),missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg288Leu/c.863G>T|504|ZNF683|protein_coding|CODING|NM_173574.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.2474,0.4193,0.341,0.29,0.16,0.36,,0.060622(N),1.000(P),"3.01,3.01,2.96,2.96(T,T,T,T)",0.0000(T),0.086,0.672902,3.52,-7.04,-1.134000,-2.439000,-2.192000,0.004000,0.000000,0.000000,3.8651
missense_variant,DHDDS,MISSENSE,NM_024887.3:p.Val253Met/c.757G>A,Gtg/Atg,MODERATE,COSM146454(3),0.455272,0.7093,rs3816539,,,1.1(L),-0.9702(T),,chr1,26786627,26786627,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val219Met/c.655G>A|299|DHDDS|protein_coding|CODING|NM_001243564.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val214Met/c.640G>A|294|DHDDS|protein_coding|CODING|NM_001243565.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val253Met/c.757G>A|334|DHDDS|protein_coding|CODING|NM_024887.3|8|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val253Met/c.757G>A|333|DHDDS|protein_coding|CODING|NM_205861.2|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4908,0.3069,0.2346,0.29,0.44,0.21,,,1.000(P),,0.0000(T),.,1.520802,5.27,-1.42,0.561000,-0.176000,0.741000,0.801000,0.585000,0.941000,12.0925
synonymous_variant,RPS6KA1,SILENT,NM_002953.3:p.Pro17Pro/c.51T>G,ccT/ccG,LOW,COSM4143728(1),0.936701,0.9583,rs11800553,,,,,,chr1,26856462,26856462,T,G,hom,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro17Pro/c.51T>G|735|RPS6KA1|protein_coding|CODING|NM_002953.3|1|1),"K562:ZBTB7A,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:PolII,H1ESC:TAF1,GM12878:H3K4me3,HeLa-S3:H3K27ac,HUVEC:H3K4me3,GM12878:PolII,HepG2:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K27me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,H1ESC:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:PolII,HMEC:H3K4me3,NHEK:DNase1,H1ESC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM06990:H3K4me3,HUVEC:DNase1",,,,0.9233,0.9179,0.9553,,,,,,,,,,,,,,,,,,,
synonymous_variant,RPS6KA1,SILENT,NM_001006665.1:p.Ala178Ala/c.534T>C,gcT/gcC,LOW,,0.991214,1,rs4970490,,,,,,chr1,26879920,26879920,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala178Ala/c.534T>C|744|RPS6KA1|protein_coding|CODING|NM_001006665.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala169Ala/c.507T>C|735|RPS6KA1|protein_coding|CODING|NM_002953.3|7|1),upstream_gene_variant(MODIFIER||1113|||MIR1976||NON_CODING|NR_031740.1||1)","H1ESC:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RPS6KA1,SILENT,NM_001006665.1:p.Tyr475Tyr/c.1425T>C,taT/taC,LOW,COSM4143733(1),0.510383,0.756,rs1064196,,,,,,chr1,26887592,26887592,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr475Tyr/c.1425T>C|744|RPS6KA1|protein_coding|CODING|NM_001006665.1|15|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr466Tyr/c.1398T>C|735|RPS6KA1|protein_coding|CODING|NM_002953.3|16|1)","H1ESC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.592,0.3646,0.2903,0.33,0.46,0.26,,,,,,,,,,,,,,,,
missense_variant,GPATCH3,MISSENSE,NM_022078.2:p.Asn234Ser/c.701A>G,aAt/aGt,MODERATE,,0.00199681,0,rs35243557,0.22(T),0.173(B),0.895(L),-1.0963(T),,chr1,27223967,27223967,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn234Ser/c.701A>G|525|GPATCH3|protein_coding|CODING|NM_022078.2|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.007,0.00,0.00,0.01,,0.000000(D),0.998(D),0.88(T),0.0487(T),0.061,2.414613,4.81,4.81,0.533000,2.012000,4.534000,0.928000,0.999000,1.000000,10.6313
synonymous_variant,KDF1,SILENT,NM_152365.2:p.Asp117Asp/c.351C>T,gaC/gaT,LOW,COSM4143743(2),0.127596,0.0288,rs3010110,0.11(T),,,-1.2392(T),,chr1,27278521,27278521,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp117Asp/c.351C>T|398|KDF1|protein_coding|CODING|NM_152365.2|2|1),"K562:ZBTB7A,H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:DNase1",,,,0.2505,0.121,0.2604,0.19,0.05,0.26,,,0.000(P),,0.0001(T),.,-0.978044,4.92,4.92,0.557000,2.547000,3.711000,0.124000,1.000000,1.000000,18.3122
missense_variant,KDF1,MISSENSE,NM_152365.2:p.Arg107Trp/c.319C>T,Cgg/Tgg,MODERATE,,0.0938498,0.0288,rs3010109,0.03(D),0.312(B),0.695(N),-1.0620(T),,chr1,27278553,27278553,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg107Trp/c.319C>T|398|KDF1|protein_coding|CODING|NM_152365.2|2|1),"K562:ZBTB7A,H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:DNase1",,,,0.2035,0.085,0.173,0.13,0.03,0.18,,0.131151(N),0.745(P),1.62(T),0.0001(T),0.183,3.549805,4.92,4.92,0.557000,2.547000,3.282000,0.866000,1.000000,1.000000,13.491
missense_variant,TRNP1,MISSENSE,NM_001013642.2:p.Trp27Arg/c.79T>C,Tgg/Cgg,MODERATE,COSM4143745(1),0.982029,1,rs6689941,0.87(T),0.0(B),-0.345(N),-1.0041(T),,chr1,27320356,27320356,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp27Arg/c.79T>C|227|TRNP1|protein_coding|CODING|NM_001013642.2|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HepG2:RXRA,NH-A:DNase1,K562:H3K4me3,K562:E2F6,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HepG2:p300,HepG2:HNF4A,HepG2:Sin3Ak20,HUVEC:H3K4me3,GM12878:H3K27me3,HepG2:H3K4me3,HepG2:FOSL2,CD4:DNase1,HUVEC:PolII,HepG2:HDAC2,H1ESC:H3K27ac,HepG2:TAF1,IMR90:DNase1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HepG2:Yy1,HepG2:Jund,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:H3K4me3,HepG2:HNF4G,K562:DNase1,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1",,,,1,0.9971,1,0.99,0.96,1.00,,0.554332(N),1.000(P),1.09(T),0.0000(T),0.053,1.249893,2.9,0.764,-0.411000,-0.207000,0.270000,0.096000,0.821000,1.000000,5.0244
synonymous_variant,SLC9A1,SILENT,NM_003047.4:p.Glu735Glu/c.2205A>G,gaA/gaG,LOW,,0.989217,1,rs4418629,,,,,,chr1,27427041,27427041,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu735Glu/c.2205A>G|815|SLC9A1|protein_coding|CODING|NM_003047.4|12|1),non_coding_exon_variant(MODIFIER|||n.2540A>G||SLC9A1||CODING|NR_046474.1|11|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,GM06990:H3K36me3,H1ESC:CTCF",,,,0.9969,0.9798,0.9632,0.97,0.99,0.96,,,,,,,,,,,,,,,,
synonymous_variant,SYTL1,SILENT,NM_001193308.1:p.Lys318Lys/c.954G>A,aaG/aaA,LOW,COSM3997464(1),0.244808,0.1786,rs6702341,,,,-0.9166(T),,chr1,27676925,27676925,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys318Lys/c.954G>A|562|SYTL1|protein_coding|CODING|NM_001193308.1|10|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys306Lys/c.918G>A|550|SYTL1|protein_coding|CODING|NM_032872.2|10|1)","IMR90:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,GM06990:H3K36me3,H1ESC:H3K4me3,NH-A:H3K27me3",,,,0.3436,0.2089,0.3787,0.31,0.17,0.38,,,0.000(P),,0.0000(T),.,1.546023,3.87,3.87,0.462000,2.155000,0.998000,0.962000,0.999000,1.000000,6.0715
missense_variant,SYTL1,MISSENSE,NM_001193308.1:p.Gly377Asp/c.1130G>A,gGc/gAc,MODERATE,,0.0157748,0,rs113120872,,,-1.1(N),-0.9443(T),,chr1,27677409,27677409,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly377Asp/c.1130G>A|562|SYTL1|protein_coding|CODING|NM_001193308.1|11|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly365Asp/c.1094G>A|550|SYTL1|protein_coding|CODING|NM_032872.2|11|1)","K562:ZBTB7A,IMR90:H3K36me3,K562:E2F6,HUVEC:H3K27me3,NHEK:H3K36me3,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,GM06990:H3K36me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1",,,,0.0072,0.0375,0.0437,0.03,0.01,0.04,,,1.000(N),,0.0014(T),.,-0.033522,4.49,-2.65,-0.391000,-0.287000,-0.818000,0.211000,0.972000,0.000000,6.109
missense_variant,SYTL1,MISSENSE,NM_001193308.1:p.Gln456Arg/c.1367A>G,cAg/cGg,MODERATE,COSM4143749(1),0.482228,0.25,rs3813795,1(T),"0.001,0.0(B,B)",-1.355(N),-0.9994(T),,chr1,27679797,27679797,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln456Arg/c.1367A>G|562|SYTL1|protein_coding|CODING|NM_001193308.1|14|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln444Arg/c.1331A>G|550|SYTL1|protein_coding|CODING|NM_032872.2|14|1),downstream_gene_variant(MODIFIER||1873||1280|MAP3K6|protein_coding|CODING|NM_001297609.1||1),downstream_gene_variant(MODIFIER||1873||1288|MAP3K6|protein_coding|CODING|NM_004672.4||1)","IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K36me3,GM06990:H3K36me3",,,,0.7331,0.4294,0.6819,0.60,0.41,0.70,,0.002873(N),0.000(P),"3.28,3.28(T,T)",0.0000(T),0.085,0.112983,5.57,2.68,-0.215000,0.327000,0.946000,0.991000,1.000000,0.000000,4.7453
synonymous_variant,SYTL1,SILENT,NM_001193308.1:p.Gly508Gly/c.1524G>A,ggG/ggA,LOW,COSM3751127(1),0.241014,0.1756,rs1128918,,,,,,chr1,27679954,27679954,G,A,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly508Gly/c.1524G>A|562|SYTL1|protein_coding|CODING|NM_001193308.1|14|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly496Gly/c.1488G>A|550|SYTL1|protein_coding|CODING|NM_032872.2|14|1),downstream_gene_variant(MODIFIER||1716||1280|MAP3K6|protein_coding|CODING|NM_001297609.1||1),downstream_gene_variant(MODIFIER||1716||1288|MAP3K6|protein_coding|CODING|NM_004672.4||1)","IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.2176,0.3678,0.29,0.16,0.36,,,,,,,,,,,,,,,,
synonymous_variant,SYTL1,SILENT,NM_001193308.1:p.Glu546Glu/c.1638A>G,gaA/gaG,LOW,COSM3997467(2),0.546326,0.2431,rs8533,,,,,,chr1,27680292,27680292,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu546Glu/c.1638A>G|562|SYTL1|protein_coding|CODING|NM_001193308.1|15|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu534Glu/c.1602A>G|550|SYTL1|protein_coding|CODING|NM_032872.2|15|1),downstream_gene_variant(MODIFIER||1378||1280|MAP3K6|protein_coding|CODING|NM_001297609.1||1),downstream_gene_variant(MODIFIER||1378||1288|MAP3K6|protein_coding|CODING|NM_004672.4||1)","IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K36me3,GM06990:H3K36me3",,,,0.5286,0.4813,0.7247,0.72,0.69,0.73,,,,,,,,,,,,,,,,
missense_variant,MAP3K6,MISSENSE,NM_004672.4:p.Asn622Lys/c.1866C>A,aaC/aaA,MODERATE,COSM1559293(8),0.122005,0.0823,rs35659744,0.15(T),"0.004,0.002(B,B)",1.355(L),-0.9805(T),,chr1,27687466,27687466,G,T,het,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn614Lys/c.1842C>A|1280|MAP3K6|protein_coding|CODING|NM_001297609.1|13|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn622Lys/c.1866C>A|1288|MAP3K6|protein_coding|CODING|NM_004672.4|14|1)","IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,H1ESC:H3K4me3",,,,0.1278,0.1571,0.2684,0.22,0.06,0.30,,,1.000(P),"-0.16,-0.16,-0.16(T,T,T)",0.0000(T),0.05,1.595660,5.2,-0.342,-0.345000,0.246000,0.029000,0.791000,0.648000,0.001000,4.454
missense_variant,MAP3K6,MISSENSE,NM_004672.4:p.Thr455Ile/c.1364C>T,aCc/aTc,MODERATE,COSM4143757(1),0.310503,0.5397,rs1138294,,,0.6(N),-0.9271(T),,chr1,27688633,27688633,G,A,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr447Ile/c.1340C>T|1280|MAP3K6|protein_coding|CODING|NM_001297609.1|8|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr455Ile/c.1364C>T|1288|MAP3K6|protein_coding|CODING|NM_004672.4|9|1)","IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HeLa-S3:H3K36me3,HSMM:H3K36me3",,,,0.3599,0.2147,0.3777,0.28,0.15,0.35,,,1.000(P),,0.0000(T),.,1.171945,4.93,-1.12,0.650000,-0.091000,-1.184000,0.995000,0.395000,0.000000,0.6264
missense_variant,AHDC1,MISSENSE,NM_001029882.3:p.Ala935Thr/c.2803G>A,Gct/Act,MODERATE,,0.998003,1,rs4908364,1(T),0.0(B),0.345(N),-0.9549(T),,chr1,27875824,27875824,C,T,hom,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala935Thr/c.2803G>A|1603|AHDC1|protein_coding|CODING|NM_001029882.3|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3,HUVEC:DNase1",,,,0.999,1,0.9911,0.99,1.00,0.99,,0.390087(N),1.000(P),"0.97,0.97(T,T)",0.0000(T),0.036,0.569499,5.24,-2.09,-0.254000,-0.710000,-0.691000,0.985000,0.287000,0.000000,7.4704
synonymous_variant,AHDC1,SILENT,NM_001029882.3:p.Pro715Pro/c.2145G>T,ccG/ccT,LOW,COSM426019(1),0.792931,0.8204,rs2076457,,,,,,chr1,27876482,27876482,C,A,hom,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro715Pro/c.2145G>T|1603|AHDC1|protein_coding|CODING|NM_001029882.3|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7249,0.7406,0.6193,0.72,0.92,0.61,,,,,,,,,,,,,,,,
synonymous_variant,THEMIS2,SILENT,NM_001105556.2:p.Leu490Leu/c.1470A>G,ctA/ctG,LOW,COSM4143769(1),0.472444,0.5099,rs3766398,,,,,,chr1,28209305,28209305,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu490Leu/c.1470A>G|643|THEMIS2|protein_coding|CODING|NM_001105556.2|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu294Leu/c.882A>G|447|THEMIS2|protein_coding|CODING|NM_001286115.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu361Leu/c.1083A>G|514|THEMIS2|protein_coding|CODING|NM_001286113.1|5|1),intron_variant(MODIFIER|||c.236-2501A>G|123|THEMIS2|protein_coding|CODING|NM_001039477.2|2|1),intron_variant(MODIFIER|||c.647-2501A>G|260|THEMIS2|protein_coding|CODING|NM_004848.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.5086,0.6322,0.52,0.25,0.65,,,0.748(P),,,.,0.315067,4.98,1.89,-0.227000,0.216000,-0.261000,0.785000,0.940000,0.001000,4.182
synonymous_variant,THEMIS2,SILENT,NM_001105556.2:p.Val509Val/c.1527T>C,gtT/gtC,LOW,,0.474441,0.504,rs3766399,,,,-1.0885(T),,chr1,28209362,28209362,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val509Val/c.1527T>C|643|THEMIS2|protein_coding|CODING|NM_001105556.2|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val313Val/c.939T>C|447|THEMIS2|protein_coding|CODING|NM_001286115.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val380Val/c.1140T>C|514|THEMIS2|protein_coding|CODING|NM_001286113.1|5|1),intron_variant(MODIFIER|||c.236-2444T>C|123|THEMIS2|protein_coding|CODING|NM_001039477.2|2|1),intron_variant(MODIFIER|||c.647-2444T>C|260|THEMIS2|protein_coding|CODING|NM_004848.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.5086,0.6322,0.52,0.26,0.65,,,0.000(P),,0.0000(T),.,-1.185382,4.98,-9.96,-3.133000,-2.370000,-3.595000,0.030000,0.284000,0.000000,11.8762
missense_variant,THEMIS2,MISSENSE,NM_001105556.2:p.Lys511Glu/c.1531A>G,Aag/Gag,MODERATE,,0.450479,0.501,rs3766400,0.29(T),"0.0,0.0,0.0(B,B,B)",-2.2(N),-0.9327(T),,chr1,28209366,28209366,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys511Glu/c.1531A>G|643|THEMIS2|protein_coding|CODING|NM_001105556.2|4|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys315Glu/c.943A>G|447|THEMIS2|protein_coding|CODING|NM_001286115.1|4|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys382Glu/c.1144A>G|514|THEMIS2|protein_coding|CODING|NM_001286113.1|5|1),intron_variant(MODIFIER|||c.236-2440A>G|123|THEMIS2|protein_coding|CODING|NM_001039477.2|2|1),intron_variant(MODIFIER|||c.647-2440A>G|260|THEMIS2|protein_coding|CODING|NM_004848.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.5029,0.6322,0.48,0.15,0.64,,0.000246(N),0.000(P),"2.66,2.66(T,T)",0.0000(T),0.306,-0.519377,4.98,4.0,-0.227000,1.258000,1.850000,0.009000,0.876000,0.998000,3.2225
missense_variant,SMPDL3B,MISSENSE,NM_014474.2:p.Arg268His/c.803G>A,cGc/cAc,MODERATE,,0.00319489,0.001,rs35908659,0.33(T),"0.006,0.01,0.014(B,B,B)",0.315(N),-0.6366(T),,chr1,28282307,28282307,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg268His/c.803G>A|373|SMPDL3B|protein_coding|CODING|NM_001009568.1|6|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg268His/c.803G>A|455|SMPDL3B|protein_coding|CODING|NM_014474.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3",,,,0,0.0115,0.006,0.01,0.00,0.01,,0.897042(N),1.000(N),"-3.38,-3.38,-3.38(D,D,D)",0.3656(T),0.067,1.077271,5.34,-4.7,0.462000,-0.994000,0.292000,0.060000,0.000000,0.000000,12.2852
synonymous_variant,PHACTR4,SILENT,NM_023923.3:p.Asp97Asp/c.291C>T,gaC/gaT,LOW,COSM4143777(1),0.00758786,0.001,rs75590636,,,,,,chr1,28786793,28786793,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp87Asp/c.261C>T|702|PHACTR4|protein_coding|CODING|NM_001048183.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp97Asp/c.291C>T|712|PHACTR4|protein_coding|CODING|NM_023923.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0159,0.0229,0.02,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,PHACTR4,SILENT,NM_023923.3:p.Pro241Pro/c.723C>G,ccC/ccG,LOW,,0.0515176,0.0704,rs61748637,,,,,,chr1,28793149,28793149,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro231Pro/c.693C>G|702|PHACTR4|protein_coding|CODING|NM_001048183.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro241Pro/c.723C>G|712|PHACTR4|protein_coding|CODING|NM_023923.3|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.0716,0.0375,0.0835,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,OPRD1,MISSENSE,NM_000911.3:p.Cys27Phe/c.80G>T,tGc/tTc,MODERATE,COSM3749049(25),0.944489,1,rs1042114,0.73(T),0.0(B),-0.695(N),-0.9514(T),,chr1,29138975,29138975,G,T,hom,missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys27Phe/c.80G>T|372|OPRD1|protein_coding|CODING|NM_000911.3|1|1),"HMEC:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,K562:DNase1,HUVEC:DNase1",,,,0.9366,0.9193,0.8678,0.92,0.97,0.89,,0.073605(N),1.000(P),-0.28(T),0.0000(T),0.073,-1.513433,4.0,2.89,-0.694000,0.713000,0.521000,0.116000,0.992000,0.002000,3.8109
missense_variant,EPB41,MISSENSE,NM_001166005.1:p.Val214Ile/c.640G>A,Gtt/Att,MODERATE,,0.0155751,0,rs111642750,,"0.025,0.067,0.127,0.028,0.04,0.047,0.046,0.87,0.015(B,B,B,B,B,B,B,P,B)",1.735(L),-0.3128(T),,chr1,29320013,29320013,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val214Ile/c.640G>A|864|EPB41|protein_coding|CODING|NM_001166005.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val214Ile/c.640G>A|720|EPB41|protein_coding|CODING|NM_001166006.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val5Ile/c.13G>A|601|EPB41|protein_coding|CODING|NM_001166007.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val5Ile/c.13G>A|588|EPB41|protein_coding|CODING|NM_004437.3|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val5Ile/c.13G>A|641|EPB41|protein_coding|CODING|NM_203342.2|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val214Ile/c.640G>A|775|EPB41|protein_coding|CODING|NM_203343.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3",,,,0.0102,0.0346,0.0408,0.04,0.01,0.05,,0.008382(N),1.000(D),"-1.82,-1.82,-1.82,-1.82,-1.82,-1.0,-1.82,-1.82(D,D,D,D,D,T,D,D)",0.2449(T),0.16,3.293288,5.22,4.31,0.557000,1.189000,4.671000,0.995000,1.000000,1.000000,12.4262
missense_variant,EPB41,MISSENSE,NM_001166005.1:p.Gly567Asp/c.1700G>A,gGt/gAt,MODERATE,,0.000199681,0,rs138888144,0.1(T),"0.01,0.017,0.017,0.003,0.023,0.038,0.017,0.023,0.079,0.029(B,B,B,B,B,B,B,B,B,B)",-0.345(N),-0.7321(T),,chr1,29379679,29379679,G,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly567Asp/c.1700G>A|864|EPB41|protein_coding|CODING|NM_001166005.1|12|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly567Asp/c.1700G>A|720|EPB41|protein_coding|CODING|NM_001166006.1|12|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly358Asp/c.1073G>A|601|EPB41|protein_coding|CODING|NM_001166007.1|12|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly358Asp/c.1073G>A|588|EPB41|protein_coding|CODING|NM_004437.3|13|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly358Asp/c.1073G>A|641|EPB41|protein_coding|CODING|NM_203342.2|13|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly532Asp/c.1595G>A|775|EPB41|protein_coding|CODING|NM_203343.2|11|1)","NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,K562:H3K36me3",,,,0.001,0,0,0.01,0.00,0.01,,0.196448(N),0.652(N),"-1.77,-1.84,-1.65,-1.76,-1.76,-1.5,-1.77,-1.75(D,D,D,D,D,D,D,D)",0.3089(T),0.279,2.690291,5.91,5.91,0.655000,2.793000,3.356000,0.876000,0.999000,1.000000,12.7211
missense_variant,SRSF4,MISSENSE,NM_005626.4:p.Gly356Ser/c.1066G>A,Ggc/Agc,MODERATE,COSM4143782(1),0.495008,0.1528,rs2230678,0.65(T),0.003(B),0.69(N),-1.0525(T),,chr1,29475341,29475341,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly356Ser/c.1066G>A|494|SRSF4|protein_coding|CODING|NM_005626.4|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4427,0.5447,0.7694,0.73,0.61,0.80,,0.962558(N),0.000(P),3.77(T),0.0000(T),0.036,1.015494,5.62,3.76,-0.140000,0.730000,1.246000,0.966000,0.984000,0.964000,9.5483
missense_variant,SRSF4,MISSENSE,NM_005626.4:p.Gly338Ala/c.1013G>C,gGg/gCg,MODERATE,COSM4143783(2),0.495208,0.1528,rs2230677,1(T),0.0(B),0(N),-0.9693(T),,chr1,29475394,29475394,C,G,hom,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly338Ala/c.1013G>C|494|SRSF4|protein_coding|CODING|NM_005626.4|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4438,0.5447,0.7694,0.73,0.61,0.80,,0.674083(N),1.000(P),2.64(T),0.0000(T),0.088,-0.680963,4.96,-0.673,-0.122000,-0.178000,0.426000,0.163000,0.333000,0.064000,2.4665
missense_variant,SRSF4,MISSENSE,NM_005626.4:p.Glu253Asp/c.759A>C,gaA/gaC,MODERATE,COSM3997475(3),0.720248,0.5635,rs2230679,0.87(T),0.0(B),-0.255(N),-0.9588(T),,chr1,29475648,29475648,T,G,hom,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu253Asp/c.759A>C|494|SRSF4|protein_coding|CODING|NM_005626.4|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.6943,0.745,0.8817,0.85,0.77,0.89,,0.005029(N),1.000(P),2.58(T),0.0000(T),0.023,0.859665,5.24,-3.25,-0.729000,-0.452000,-1.716000,0.950000,0.406000,0.001000,1.1004
synonymous_variant,MECR,SILENT,NM_016011.3:p.Ala199Ala/c.597A>G,gcA/gcG,LOW,COSM1748339(2),0.746805,0.5615,rs1062924,,,,,,chr1,29529699,29529699,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala123Ala/c.369A>G|297|MECR|protein_coding|CODING|NM_001024732.2|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala199Ala/c.597A>G|373|MECR|protein_coding|CODING|NM_016011.3|5|1)","NHEK:CTCF,HSMM:DNase1,H1ESC:H3K36me3,IMR90:H3K36me3,HeLa-S3:DNase1,K562:CTCFL,HMEC:CTCF,K562:PolII,K562:Cjun,NH-A:CTCF,K562:Rad21,CD4:DNase1,NHEK:H3K36me3,CD4:CTCF,K562:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HepG2:DNase1,H1ESC:DNase1,HSMM:CTCF,GM06990:H3K36me3,HepG2:Rad21,K562:Cfos,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,K562:Jund,GM06990:CTCF,HUVEC:DNase1",,,,0.6943,0.7493,0.8807,0.88,0.85,0.89,,,,,,,,,,,,,,,,
missense_variant,MECR,MISSENSE,NM_016011.3:p.Phe96Leu/c.286T>C,Ttc/Ctc,MODERATE,COSM3997476(2),0.718051,0.5625,rs1128400,0.65(T),0.0(B),-0.38(N),-1.0169(T),,chr1,29542637,29542637,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe20Leu/c.58T>C|297|MECR|protein_coding|CODING|NM_001024732.2|3|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe96Leu/c.286T>C|373|MECR|protein_coding|CODING|NM_016011.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.6943,0.7334,0.8797,0.85,0.77,0.89,,0.000005(N),1.000(P),"1.01,1.01(T,T)",0.0000(T),0.016,0.159742,5.53,1.39,-0.231000,0.052000,0.287000,0.336000,0.997000,0.908000,4.877
missense_variant,PTPRU,MISSENSE,NM_005704.4:p.Asn940Ser/c.2819A>G,aAt/aGt,MODERATE,COSM3997478(2),0.336462,0.4851,rs2235937,,"0.0,0.0,0.0,0.001,0.001(B,B,B,B,B)",0.015(N),-0.9017(T),,chr1,29631909,29631909,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn930Ser/c.2789A>G|1433|PTPRU|protein_coding|CODING|NM_001195001.1|18|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn940Ser/c.2819A>G|1446|PTPRU|protein_coding|CODING|NM_005704.4|19|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn930Ser/c.2789A>G|1440|PTPRU|protein_coding|CODING|NM_133177.3|18|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn930Ser/c.2789A>G|1436|PTPRU|protein_coding|CODING|NM_133178.3|18|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3",,,,0.407,0.3775,0.2425,0.23,0.23,0.23,,0.000528(D),0.904(P),"1.62,1.62,1.62,1.62,1.62,1.62(T,T,T,T,T,T)",0.0000(T),0.078,-0.430790,4.06,1.77,0.460000,0.386000,2.492000,0.990000,0.529000,0.990000,6.9338
synonymous_variant,MATN1,SILENT,NM_002379.3:p.Glu425Glu/c.1275G>A,gaG/gaA,LOW,COSM4143785(1),0.28754,0.1835,rs1065755,,,,,,chr1,31188089,31188089,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu425Glu/c.1275G>A|496|MATN1|protein_coding|CODING|NM_002379.3|6|1),"NHEK:CTCF,HMEC:CTCF,HUVEC:H3K27me3,K562:CTCF,HepG2:CTCF,K562:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,H1ESC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,GM06990:CTCF",,,,0.2699,0.4121,0.3638,0.32,0.29,0.34,,,,,,,,,,,,,,,,
synonymous_variant,MATN1,SILENT,NM_002379.3:p.Thr354Thr/c.1062T>C,acT/acC,LOW,COSM3997479(2),0.604233,0.6052,rs20566,,,,,,chr1,31188901,31188901,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr354Thr/c.1062T>C|496|MATN1|protein_coding|CODING|NM_002379.3|5|1),K562:H3K36me3,,,,0.3701,0.6787,0.4682,0.56,0.77,0.45,,,,,,,,,,,,,,,,
missense_variant,LAPTM5,MISSENSE,NM_006762.2:p.Arg226Lys/c.677G>A,aGa/aAa,MODERATE,,0.115415,0.0764,rs35351292,0.92(T),0.021(B),0(N),-1.0220(T),,chr1,31208042,31208042,C,T,het,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg226Lys/c.677G>A|262|LAPTM5|protein_coding|CODING|NM_006762.2|7|1),"GM12878:PolII,HUVEC:H3K36me3,IMR90:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,CD4:PolII,CD4:H4K20me1,GM06990:H3K36me3",,,,0.1033,0.1124,0.2664,0.20,0.08,0.25,,0.618151(N),1.000(P),0.96(T),0.0000(T),0.012,-0.135257,5.5,-3.43,-0.175000,-0.202000,-1.033000,0.002000,0.000000,0.000000,1.3828
missense_variant,SDC3,MISSENSE,NM_014654.3:p.Asp303Asn/c.907G>A,Gat/Aat,MODERATE,,0.234425,0.0665,rs4949184,0.2(T),"0.015,0.009(B,B)",0.205(N),-0.9495(T),,chr1,31347399,31347399,C,T,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp303Asn/c.907G>A|442|SDC3|protein_coding|CODING|NM_014654.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.32,0.1628,0.1799,0.23,0.31,0.18,,0.008833(N),0.998(P),"1.81,1.8(T,T)",0.0000(T),0.003,3.890788,4.7,4.7,0.563000,2.454000,3.045000,0.697000,0.967000,0.715000,6.7554
missense_variant,SDC3,MISSENSE,NM_014654.3:p.Val208Ile/c.622G>A,Gta/Ata,MODERATE,,0.076278,0.0347,rs2491132,0.25(T),"0.001,0.0(B,B)",0(N),-0.9563(T),,chr1,31349647,31349647,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val208Ile/c.622G>A|442|SDC3|protein_coding|CODING|NM_014654.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,GM06990:H3K27me3,NHEK:H3K36me3,K562:H3K36me3,HepG2:H3K27me3",,RCV000013593.16,,0.0542,0.1009,0.2107,0.15,0.04,0.21,,0.716133(N),1.000(P),"1.99,1.98(T,T)",0.0000(T),0.022,-0.094098,4.99,-8.71,-0.379000,-1.210000,-2.237000,0.211000,0.003000,0.000000,6.0353
synonymous_variant,SDC3,SILENT,NM_014654.3:p.Pro71Pro/c.213C>T,ccC/ccT,LOW,,0.177915,0.1111,rs1891419,,,,,,chr1,31351513,31351513,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro71Pro/c.213C>T|442|SDC3|protein_coding|CODING|NM_014654.3|2|1),"IMR90:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2454,0.2795,0.3042,0.21,0.08,0.28,,,,,,,,,,,,,,,,
synonymous_variant,PUM1,SILENT,NM_001020658.1:p.Asn779Asn/c.2337T>C,aaT/aaC,LOW,COSM3751135(2),0.357428,0.3462,rs2275741,,,,-1.0455(T),,chr1,31426815,31426815,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn779Asn/c.2337T>C|1188|PUM1|protein_coding|CODING|NM_001020658.1|15|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn779Asn/c.2337T>C|1186|PUM1|protein_coding|CODING|NM_014676.2|15|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.364,0.4726,0.3767,0.37,0.31,0.40,,,0.000(P),,0.0000(T),.,0.841585,6.02,-4.63,-1.551000,-1.276000,-0.433000,0.925000,0.831000,0.053000,16.103
synonymous_variant,SERINC2,SILENT,NM_001199038.1:p.Ile159Ile/c.477T>C,atT/atC,LOW,COSM3997481(1),0.35004,0.3591,rs4949402,,,,,,chr1,31898234,31898234,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile154Ile/c.462T>C|459|SERINC2|protein_coding|CODING|NM_001199037.1|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile159Ile/c.477T>C|464|SERINC2|protein_coding|CODING|NM_001199038.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile95Ile/c.285T>C|400|SERINC2|protein_coding|CODING|NM_001199039.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile154Ile/c.462T>C|459|SERINC2|protein_coding|CODING|NM_018565.3|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile150Ile/c.450T>C|455|SERINC2|protein_coding|CODING|NM_178865.4|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM12878:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3",,,,0.3313,0.4496,0.5596,0.45,0.23,0.57,,,,,,,,,,,,,,,,
missense_variant,SERINC2,MISSENSE,NM_001199038.1:p.Gly312Ser/c.934G>A,Ggc/Agc,MODERATE,,0.0409345,0,rs34728687,0.43(T),"0.006,0.006,0.005(B,B,B)",0.245(N),-0.9671(T),,chr1,31902279,31902279,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly307Ser/c.919G>A|459|SERINC2|protein_coding|CODING|NM_001199037.1|8|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly312Ser/c.934G>A|464|SERINC2|protein_coding|CODING|NM_001199038.1|9|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly248Ser/c.742G>A|400|SERINC2|protein_coding|CODING|NM_001199039.1|9|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly307Ser/c.919G>A|459|SERINC2|protein_coding|CODING|NM_018565.3|8|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly303Ser/c.907G>A|455|SERINC2|protein_coding|CODING|NM_178865.4|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3",,,,0.0133,0.0418,0.1093,0.08,0.04,0.11,,0.391438(N),1.000(P),"2.53,2.53,2.53,2.53(T,T,T,T)",0.0005(T),0.014,0.471738,5.12,-4.81,-0.345000,-0.880000,-0.450000,0.004000,0.000000,0.000000,12.7657
synonymous_variant,HCRTR1,SILENT,NM_001525.2:p.Arg37Arg/c.111C>T,cgC/cgT,LOW,COSM3746932(1),0.352835,0.2371,rs1056526,,,,,,chr1,32084904,32084904,C,T,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg37Arg/c.111C>T|425|HCRTR1|protein_coding|CODING|NM_001525.2|3|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.545,0.4654,0.5636,0.42,0.16,0.55,,,,,,,,,,,,,,,,
missense_variant,HCRTR1,MISSENSE,NM_001525.2:p.Ile408Val/c.1222A>G,Atc/Gtc,MODERATE,COSM1341730(2),0.439696,0.244,rs2271933,1(T),0.001(B),-0.345(N),-0.9247(T),,chr1,32092525,32092525,A,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile408Val/c.1222A>G|425|HCRTR1|protein_coding|CODING|NM_001525.2|9|1),"NH-A:DNase1,HSMM:DNase1,H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.6155,0.5086,0.6332,0.51,0.31,0.61,,0.000795(N),0.000(P),"0.31,0.31(T,T)",0.0000(T),0.111,-0.715416,4.7,3.78,-0.735000,0.690000,1.595000,0.914000,0.965000,0.962000,8.2159
synonymous_variant,PEF1,SILENT,NM_012392.3:p.Ile268Ile/c.804T>C,atT/atC,LOW,COSM3746933(1),0.356829,0.248,rs1061770,,,,,,chr1,32096265,32096265,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile268Ile/c.804T>C|284|PEF1|protein_coding|CODING|NM_012392.3|5|1),non_coding_exon_variant(MODIFIER|||n.876T>C||PEF1||CODING|NR_033686.1|4|1),non_coding_exon_variant(MODIFIER|||n.1018T>C||PEF1||CODING|NR_033688.1|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.544,0.4741,0.5676,0.43,0.17,0.56,,,,,,,,,,,,,,,,
synonymous_variant,COL16A1,SILENT,NM_001856.3:p.Pro834Pro/c.2502T>C,ccT/ccC,LOW,,0.999401,1,rs10737358,,,,,,chr1,32148571,32148571,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro834Pro/c.2502T>C|1604|COL16A1|protein_coding|CODING|NM_001856.3|37|1),"IMR90:H3K36me3,GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3",,,,1,0.9986,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL16A1,SILENT,NM_001856.3:p.Pro369Pro/c.1107A>G,ccA/ccG,LOW,COSM3746934(1),0.630391,0.3581,rs3818788,,,,,,chr1,32158374,32158374,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro369Pro/c.1107A>G|1604|COL16A1|protein_coding|CODING|NM_001856.3|14|1),"IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3",,,,0.6718,0.6816,0.6491,0.67,0.73,0.64,,,,,,,,,,,,,,,,
missense_variant,COL16A1,MISSENSE,NM_001856.3:p.Thr62Lys/c.185C>A,aCg/aAg,MODERATE,COSM1341749(1),0.427316,0.2708,rs2228552,0.18(T),"0.473,0.045(P,B)",1.04(L),-0.9686(T),,chr1,32165495,32165495,G,T,het,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr62Lys/c.185C>A|1604|COL16A1|protein_coding|CODING|NM_001856.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,GM12878:EBF,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HMEC:H3K36me3",,,,0.5665,0.4553,0.6481,0.54,0.35,0.63,,0.688765(N),1.000(P),"1.85,1.85,1.85(T,T,T)",0.0000(T),0.11,1.607805,4.63,-2.4,-2.101000,-1.129000,-0.788000,0.704000,0.076000,0.000000,8.0524
synonymous_variant,BAI2,SILENT,NM_001294335.1:p.Ala1516Ala/c.4548A>G,gcA/gcG,LOW,COSM3751138(2),0.604034,0.3492,rs1127100,,,,,,chr1,32193647,32193647,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1516Ala/c.4548A>G|1584|BAI2|protein_coding|CODING|NM_001294335.1|32|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1483Ala/c.4449A>G|1551|BAI2|protein_coding|CODING|NM_001294336.1|31|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5706,0.5159,0.6531,0.70,0.79,0.65,,,,,,,,,,,,,,,,
missense_variant,SPOCD1,MISSENSE,NM_144569.5:p.Arg436Trp/c.1306C>T,Cgg/Tgg,MODERATE,COSM146457(3),0.346246,0.4226,rs6669563,0(D),"0.237,0.12(B,B)",0(N),-0.9290(T),,chr1,32279629,32279629,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg436Trp/c.1306C>T|1203|SPOCD1|protein_coding|CODING|NM_001281987.1|2|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg436Trp/c.1306C>T|1216|SPOCD1|protein_coding|CODING|NM_144569.5|2|1),intron_variant(MODIFIER|||c.-139+1933C>T|696|SPOCD1|protein_coding|CODING|NM_001281988.1|1|1)",HepG2:H3K27me3,,,,0.2822,0.4957,0.4374,0.37,0.22,0.44,,,1.000(P),"1.84,1.37,1.84(T,T,T)",0.0000(T),0.123,1.254901,3.25,0.152,0.455000,0.044000,0.049000,0.085000,0.000000,0.000000,3.8093
missense_variant,SPOCD1,MISSENSE,NM_144569.5:p.Thr109Ala/c.325A>G,Act/Gct,MODERATE,COSM4143799(1),0.6875,0.7212,rs6664445,1(T),"0.0,0.0(B,B)",0(N),-0.9382(T),,chr1,32280610,32280610,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr109Ala/c.325A>G|1203|SPOCD1|protein_coding|CODING|NM_001281987.1|2|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr109Ala/c.325A>G|1216|SPOCD1|protein_coding|CODING|NM_144569.5|2|1),intron_variant(MODIFIER|||c.-139+952A>G|696|SPOCD1|protein_coding|CODING|NM_001281988.1|1|1)",HepG2:H3K27me3,,,,0.7464,0.6671,0.673,0.67,0.64,0.69,,,1.000(P),"2.2,1.63,2.19(T,T,T)",0.0000(T),0.018,-1.480039,3.27,2.32,-0.119000,0.388000,0.365000,0.004000,0.008000,0.008000,4.6382
missense_variant,FAM167B,MISSENSE,NM_032648.2:p.Leu102Val/c.304C>G,Ctg/Gtg,MODERATE,,,,,0.07(T),0.342(B),1.245(L),-0.8651(T),,chr1,32714014,32714014,C,G,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu102Val/c.304C>G|163|FAM167B|protein_coding|CODING|NM_032648.2|2|1),"NHEK:CTCF,K562:Gabp,K562:Cmyc,HMEC:CTCF,NH-A:CTCF,CD4:H3K4me1,K562:Rad21,H1ESC:H3K9me3,CD4:DNase1,CD4:CTCF,K562:CTCF,HepG2:CTCF,GM12878:Rad21,H1ESC:H3K4me2,HUVEC:CTCF,IMR90:DNase1,HepG2:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:DNase1,CD4:H3K27ac,GM12878:H3K4me2,GM12878:ELF1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,GM06990:CTCF,HUVEC:DNase1",,,,,,,,,,,0.000002(D),0.897(D),0.28(T),0.1270(T),0.324,4.146873,5.13,3.12,0.549000,2.579000,3.463000,0.991000,0.996000,1.000000,6.1746
missense_variant,ZBTB8A,MISSENSE,NM_001040441.2:p.Gly418Ala/c.1253G>C,gGt/gCt,MODERATE,,0.9998,1,rs704886,1(T),0.0(B),-0.805(N),-0.9741(T),,chr1,33065947,33065947,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly418Ala/c.1253G>C|441|ZBTB8A|protein_coding|CODING|NM_001040441.2|5|1),3_prime_UTR_variant(MODIFIER||49|c.*49G>C|340|ZBTB8A|protein_coding|CODING|NM_001291496.1|5|1),non_coding_exon_variant(MODIFIER|||n.759G>C||ZBTB8A||CODING|NR_111980.1|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,0.000015(N),0.000(P),2.79(T),0.0000(T),0.034,0.718527,5.59,5.59,-0.120000,1.526000,3.226000,0.989000,1.000000,0.741000,14.5079
synonymous_variant,RBBP4,SILENT,NM_005610.2:p.Val151Val/c.453T>C,gtT/gtC,LOW,,0.967851,1,rs2762904,,,,-1.0038(T),,chr1,33133968,33133968,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val150Val/c.450T>C|424|RBBP4|protein_coding|CODING|NM_001135255.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val116Val/c.348T>C|390|RBBP4|protein_coding|CODING|NM_001135256.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val151Val/c.453T>C|425|RBBP4|protein_coding|CODING|NM_005610.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9841,1,0.97,0.91,1.00,,,0.000(P),,0.0000(T),.,1.317807,5.29,1.77,-1.290000,0.108000,-0.125000,0.970000,1.000000,0.738000,9.1773
missense_variant,SYNC,MISSENSE,NM_030786.2:p.Arg274Gln/c.821G>A,cGg/cAg,MODERATE,COSM3751140(1),0.86262,0.8681,rs360042,0.1(T),"0.072,0.185(B,B)",-0.345(N),-0.9279(T),,chr1,33160878,33160878,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg274Gln/c.821G>A|476|SYNC|protein_coding|CODING|NM_001161708.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg274Gln/c.821G>A|482|SYNC|protein_coding|CODING|NM_030786.2|2|1)","NH-A:DNase1,HSMM:DNase1,HepG2:H3K4me2,IMR90:H3K36me3,K562:PolII,HepG2:ELF1,K562:H3K9ac,K562:ELF1,HepG2:H3K4me3,NHEK:H3K36me3,NH-A:H3K36me3,K562:H3K4me1,HepG2:H3K9ac,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:DNase1,HepG2:DNase1,HepG2:PolII,K562:SP1,K562:H3K4me2,K562:H2AZ,K562:DNase1,HepG2:HEY1,HUVEC:DNase1",,,,0.9223,0.7738,0.9652,0.91,0.81,0.96,,,0.962(P),"-2.83,-2.83(D,D)",0.0000(T),0.08,2.222184,4.32,1.96,0.313000,0.956000,0.064000,0.767000,0.650000,0.493000,8.6507
missense_variant,SYNC,MISSENSE,NM_030786.2:p.Met163Val/c.487A>G,Atg/Gtg,MODERATE,COSM3751143(1),0.86262,0.8681,rs360041,0.45(T),"0.0,0.0(B,B)",-0.345(N),-1.0321(T),,chr1,33161212,33161212,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met163Val/c.487A>G|476|SYNC|protein_coding|CODING|NM_001161708.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met163Val/c.487A>G|482|SYNC|protein_coding|CODING|NM_030786.2|2|1)","HepG2:H3K4me2,IMR90:H3K36me3,K562:PolII,HepG2:H3K4me3,NHEK:H3K36me3,NH-A:H3K36me3,K562:H3K4me1,HepG2:H3K27ac,HSMM:H3K36me3,HepG2:DNase1,HepG2:PolII,K562:H3K4me2,K562:H2AZ",,,,0.9223,0.7738,0.9652,0.91,0.81,0.96,,,1.000(P),"2.01,2.01(T,T)",0.0000(T),0.224,-1.277322,4.57,-2.75,-1.386000,-0.334000,-0.061000,0.017000,0.005000,0.000000,1.5069
missense_variant,RNF19B,MISSENSE,NM_153341.3:p.Gln62Pro/c.185A>C,cAg/cCg,MODERATE,COSM4143816(2),,,rs113840389,0.29(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-1.0125(T),,chr1,33430102,33430102,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln62Pro/c.185A>C|587|RNF19B|protein_coding|CODING|NM_001127361.2|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln62Pro/c.185A>C|731|RNF19B|protein_coding|CODING|NM_001300826.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln62Pro/c.185A>C|732|RNF19B|protein_coding|CODING|NM_153341.3|1|1)","K562:H3K4me3,HeLa-S3:DNase1,K562:E2F6,H1ESC:H3K9ac,K562:PolII,HeLa-S3:PolII,HUVEC:H3K4me3,HepG2:H3K4me3,HSMM:H3K27ac,CD4:PolII,H1ESC:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,H1ESC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,GM12878:Sin3Ak20,HUVEC:DNase1",,,,,,,,,,,,1.000(P),"1.46,1.47,1.47(T,T,T)",0.0294(T),0.172,0.252843,1.33,0.302,-0.779000,-0.289000,0.215000,0.263000,0.903000,0.154000,6.9478
synonymous_variant,TRIM62,SILENT,NM_018207.2:p.His28His/c.84T>C,caT/caC,LOW,COSM3751148(4),0.749601,0.7946,rs622407,,,,,,chr1,33646950,33646950,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His28His/c.84T>C|475|TRIM62|protein_coding|CODING|NM_018207.2|1|1),"NHEK:CTCF,NH-A:H3K4me3,K562:H3K4me3,HepG2:H3K4me2,CD4:H2BK5me1,CD4:H3K18ac,K562:E2F6,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HepG2:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,NHEK:H3K4me2,HUVEC:CTCF,IMR90:DNase1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,H1ESC:H3K4me3,IMR90:H3K4me3,GM06990:H3K4me3,H1ESC:CTCF,HUVEC:DNase1",,,,0.7198,0.7954,0.7545,0.78,0.77,0.79,,,,,,,,,,,,,,,,
synonymous_variant,PHC2,SILENT,NM_198040.2:p.Pro276Pro/c.828T>C,ccT/ccC,LOW,COSM4143830(1),0.728235,0.7708,rs6425816,,,,,,chr1,33832865,33832865,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro276Pro/c.828T>C|858|PHC2|protein_coding|CODING|NM_198040.2|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.7444,0.4856,0.6322,0.73,0.85,0.67,,,,,,,,,,,,,,,,
missense_variant,ZSCAN20,MISSENSE,NM_145238.3:p.Lys35Arg/c.104A>G,aAa/aGa,MODERATE,,0.0191693,0,rs41265901,0.53(T),"0.001,0.006,0.001(B,B,B)",1.01(L),-0.9039(T),,chr1,33944993,33944993,A,G,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys35Arg/c.104A>G|1043|ZSCAN20|protein_coding|CODING|NM_145238.3|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.0174,0.0303,0.0577,0.04,0.01,0.05,,0.588965(N),1.000(N),4.52(T),0.0009(T),0.013,1.913018,5.35,-2.0,0.528000,-0.166000,-0.327000,0.752000,0.000000,0.000000,3.2841
synonymous_variant,ZSCAN20,SILENT,NM_145238.3:p.Thr101Thr/c.303T>A,acT/acA,LOW,COSM3751153(1),0.0686901,0.0089,rs16835507,,,,,,chr1,33945192,33945192,T,A,het,synonymous_variant(LOW|SILENT|acT/acA|p.Thr101Thr/c.303T>A|1043|ZSCAN20|protein_coding|CODING|NM_145238.3|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.0749,0.1342,0.13,0.10,0.15,,,,,,,,,,,,,,,,
missense_variant,ZSCAN20,MISSENSE,NM_145238.3:p.Tyr432Asp/c.1294T>G,Tat/Gat,MODERATE,,0.999201,1,rs4403594,1(T),"0.0,0.0,0.0(B,B,B)",-2.25(N),-0.9655(T),,chr1,33957152,33957152,T,G,hom,missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr432Asp/c.1294T>G|1043|ZSCAN20|protein_coding|CODING|NM_145238.3|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,0.996,1.00,1.00,1.00,,0.000005(N),1.000(P),4.7(T),0.0000(T),0.294,-0.168236,5.61,5.61,-0.217000,1.535000,2.469000,0.671000,0.997000,1.000000,14.2051
synonymous_variant,ZSCAN20,SILENT,NM_145238.3:p.Ala706Ala/c.2118A>G,gcA/gcG,LOW,,0.752596,0.7381,rs9943259,,,,,,chr1,33960062,33960062,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala706Ala/c.2118A>G|1043|ZSCAN20|protein_coding|CODING|NM_145238.3|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7434,0.6239,0.7376,0.81,0.84,0.79,,,,,,,,,,,,,,,,
missense_variant,CSMD2,MISSENSE,NM_001281956.1:p.Met2552Val/c.7654A>G,Atg/Gtg,MODERATE,COSM3751157(2),0.509984,0.4087,rs2641962,0.68(T),"0.001,0.0(B,B)",-1.99(N),-0.9334(T),,chr1,34038214,34038214,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met2552Val/c.7654A>G|3631|CSMD2|protein_coding|CODING|NM_001281956.1|50|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met2554Val/c.7660A>G|3487|CSMD2|protein_coding|CODING|NM_052896.4|51|1)","H1ESC:H3K36me3,K562:H3K27me3,GM12878:H3K36me3",,,,0.4847,0.6542,0.494,0.48,0.52,0.47,,0.036329(N),0.028(P),-0.0(T),0.0000(T),0.019,-1.389467,5.65,1.67,-1.886000,-0.127000,0.282000,0.299000,0.819000,0.095000,6.1601
missense_variant,CSMD2,MISSENSE,NM_052896.4:p.Arg2096Lys/c.6287G>A,aGa/aAa,MODERATE,COSM1600090(1),0.518371,0.5516,rs1874045,,,,,,chr1,34071525,34071525,C,T,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg2096Lys/c.6287G>A|3487|CSMD2|protein_coding|CODING|NM_052896.4|42|1),intron_variant(MODIFIER|||c.6344-455G>A|3631|CSMD2|protein_coding|CODING|NM_001281956.1|41|1)","H1ESC:H3K36me3,HMEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5757,0.6787,0.5755,0.51,0.40,0.58,,,,,,,,,,,,,,,,
synonymous_variant,CSMD2,SILENT,NM_001281956.1:p.Ala432Ala/c.1296C>T,gcC/gcT,LOW,COSM4143842(1),0.601637,0.6627,rs17342512,,,,,,chr1,34285342,34285342,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala432Ala/c.1296C>T|3631|CSMD2|protein_coding|CODING|NM_001281956.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala392Ala/c.1176C>T|3487|CSMD2|protein_coding|CODING|NM_052896.4|9|1)",,,,,0.6084,0.6441,0.5278,0.53,0.57,0.52,,,,,,,,,,,,,,,,
synonymous_variant,CSMD2,SILENT,NM_001281956.1:p.Lys419Lys/c.1257G>A,aaG/aaA,LOW,,0.601438,0.6627,rs11578857,,,,,,chr1,34285381,34285381,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys419Lys/c.1257G>A|3631|CSMD2|protein_coding|CODING|NM_001281956.1|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys379Lys/c.1137G>A|3487|CSMD2|protein_coding|CODING|NM_052896.4|9|1)",,,,,0.6063,0.6455,0.5278,0.53,0.57,0.52,,,,,,,,,,,,,,,,
synonymous_variant,HMGB4,SILENT,NM_145205.5:p.Tyr35Tyr/c.105T>C,taT/taC,LOW,,0.988219,1,rs911218,,,,,,chr1,34329897,34329897,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr35Tyr/c.105T>C|186|HMGB4|protein_coding|CODING|NM_145205.5|2|1),intron_variant(MODIFIER|||c.921-17300A>G|3631|CSMD2|protein_coding|CODING|NM_001281956.1|5|1),intron_variant(MODIFIER|||c.801-17300A>G|3487|CSMD2|protein_coding|CODING|NM_052896.4|5|1),non_coding_exon_variant(MODIFIER|||n.133T>C||HMGB4||CODING|NR_033264.1|2|1)",HepG2:H3K27me3,,,,0.9969,0.987,0.9553,0.97,0.99,0.95,,,,,,,,,,,,,,,,
missense_variant,HMGB4,MISSENSE,NM_145205.5:p.Glu92Ala/c.275A>C,gAa/gCa,MODERATE,,0.901158,0.9008,rs10379,1(T),0.0(B),-2.535(N),-0.9304(T),,chr1,34330067,34330067,A,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu92Ala/c.275A>C|186|HMGB4|protein_coding|CODING|NM_145205.5|2|1),intron_variant(MODIFIER|||c.921-17470T>G|3631|CSMD2|protein_coding|CODING|NM_001281956.1|5|1),intron_variant(MODIFIER|||c.801-17470T>G|3487|CSMD2|protein_coding|CODING|NM_052896.4|5|1),non_coding_exon_variant(MODIFIER|||n.303A>C||HMGB4||CODING|NR_033264.1|2|1)",HepG2:H3K27me3,,,,0.9335,0.9063,0.7475,0.82,0.95,0.76,,0.000000(N),0.000(P),"-3.15,-3.15(D,D)",0.0000(T),0.063,0.862633,5.58,5.58,-0.167000,1.614000,3.889000,0.975000,0.546000,0.996000,11.9281
synonymous_variant,GJB3,SILENT,NM_024009.2:p.Asn266Asn/c.798C>T,aaC/aaT,LOW,,0.0728834,0.002,rs35983826,,,,,,chr1,35251161,35251161,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn266Asn/c.798C>T|270|GJB3|protein_coding|CODING|NM_024009.2|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn266Asn/c.798C>T|270|GJB3|protein_coding|CODING|NM_001005752.1|2|1)","GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,RCV000039324.1,,0.1125,0.0461,0.1103,0.09,0.07,0.10,,,,,,,,,,,,,,,,
synonymous_variant,GJA4,SILENT,NM_002060.2:p.Gln49Gln/c.147A>G,caA/caG,LOW,COSM3746944(2),0.621406,0.4841,rs1764390,,,,,,chr1,35259961,35259961,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln49Gln/c.147A>G|333|GJA4|protein_coding|CODING|NM_002060.2|2|1),"IMR90:H3K36me3,HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HUVEC:H3K4me3,HUVEC:H3K36me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.499,0.513,0.6481,0.71,0.82,0.65,,,,,,,,,,,,,,,,
missense_variant,GJA4,MISSENSE,NM_002060.2:p.Pro319Ser/c.955C>T,Ccc/Tcc,MODERATE,,0.333666,0.1726,rs1764391,0.2(T),0.0(B),-1.1(N),-0.9429(T),,chr1,35260769,35260769,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro319Ser/c.955C>T|333|GJA4|protein_coding|CODING|NM_002060.2|2|1),"IMR90:H3K36me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HUVEC:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2055,0.2723,0.332,0.38,0.53,0.30,,0.087865(N),1.000(P),-4.25(D),0.0000(T),0.025,-1.249319,5.25,0.0125,-0.361000,0.237000,0.155000,0.202000,0.865000,0.000000,5.8617
missense_variant,ZMYM1,MISSENSE,NM_001289088.1:p.Val73Met/c.217G>A,Gtg/Atg,MODERATE,,0.829073,0.7411,rs2971408,0.29(T),"0.001,0.0,0.001(B,B,B)",-1.59(N),-1.0516(T),,chr1,35562965,35562965,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val73Met/c.217G>A|1142|ZMYM1|protein_coding|CODING|NM_001289088.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val73Met/c.217G>A|1123|ZMYM1|protein_coding|CODING|NM_001289089.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val73Met/c.217G>A|1142|ZMYM1|protein_coding|CODING|NM_001289090.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val73Met/c.217G>A|1142|ZMYM1|protein_coding|CODING|NM_024772.4|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||782|ZMYM1|protein_coding|CODING|NM_001289091.1|5|1),5_prime_UTR_variant(MODIFIER||14527|c.-860G>A|782|ZMYM1|protein_coding|CODING|NM_001289091.1|5|1)","NH-A:DNase1,H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1",,,,0.9254,0.7392,0.9215,0.89,0.83,0.93,,0.023157(N),0.000(P),"2.23,2.54,2.54(T,T,T)",0.0000(T),0.181,0.847582,5.04,-0.0767,-1.237000,-0.356000,0.014000,0.867000,0.983000,0.920000,6.6579
missense_variant,TFAP2E,MISSENSE,NM_178548.3:p.Arg363Cys/c.1087C>T,Cgc/Tgc,MODERATE,,0.00179712,0.001,rs145119239,0(D),0.98(D),3.275(M),0.9258(D),,chr1,36060035,36060035,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|442|TFAP2E|protein_coding|CODING|NM_178548.3|7|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.008,0.00,0.00,0.00,,0.000000(D),1.000(D),-4.39(D),0.9467(D),0.976,4.522180,5.64,5.64,0.561000,2.661000,3.816000,0.997000,1.000000,1.000000,19.7201
synonymous_variant,AGO4,SILENT,NM_017629.3:p.Ser798Ser/c.2394A>C,tcA/tcC,LOW,,0.491014,0.253,rs4652895,,,,,,chr1,36316571,36316571,A,C,hom,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser798Ser/c.2394A>C|861|AGO4|protein_coding|CODING|NM_017629.3|17|1),"IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.5375,0.8539,0.66,0.26,0.86,,,,,,,,,,,,,,,,
synonymous_variant,TEKT2,SILENT,NM_014466.2:p.Thr393Thr/c.1179A>G,acA/acG,LOW,,0.938698,0.999,rs386590114,,,,,,chr1,36553673,36553673,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr393Thr/c.1179A>G|430|TEKT2|protein_coding|CODING|NM_014466.2|10|1),upstream_gene_variant(MODIFIER||780||363|ADPRHL2|protein_coding|CODING|NM_017825.2||1)",,,,,0.9397,0.9395,0.9115,0.92,0.92,0.92,,,,,,,,,,,,,,,,
synonymous_variant,MAP7D1,SILENT,NM_018067.4:p.Ser452Ser/c.1356T>C,tcT/tcC,LOW,,0.750399,0.9137,rs475591,,,,-1.0249(T),,chr1,36642420,36642420,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser415Ser/c.1245T>C|803|MAP7D1|protein_coding|CODING|NM_001286365.1|7|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser420Ser/c.1260T>C|808|MAP7D1|protein_coding|CODING|NM_001286366.1|9|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser452Ser/c.1356T>C|841|MAP7D1|protein_coding|CODING|NM_018067.4|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3",,,,0.5521,0.781,0.5755,0.66,0.82,0.58,,,1.000(P),,0.0000(T),.,0.947593,5.04,-10.1,-1.032000,-2.763000,-7.226000,0.002000,0.000000,0.000000,0.7178
synonymous_variant,THRAP3,SILENT,NM_005119.3:p.Tyr107Tyr/c.321C>T,taC/taT,LOW,COSM146465(2),0.247604,0.0754,rs2242428,,,,,,chr1,36752152,36752152,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr107Tyr/c.321C>T|955|THRAP3|protein_coding|CODING|NM_005119.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.2219,0.4205,0.30,0.14,0.38,,,,,,,,,,,,,,,,
missense_variant,THRAP3,MISSENSE,NM_005119.3:p.Ala201Val/c.602C>T,gCc/gTc,MODERATE,,0.795527,0.9484,rs6425977,0.15(T),0.058(B),0.345(N),-1.0197(T),,chr1,36752433,36752433,C,T,hom,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala201Val/c.602C>T|955|THRAP3|protein_coding|CODING|NM_005119.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.8742,0.8602,0.8837,0.78,0.59,0.88,,0.131733(N),0.263(P),"2.54,2.54(T,T)",0.0000(T),0.074,1.925773,5.72,4.79,0.655000,1.368000,0.946000,0.969000,1.000000,0.024000,13.9728
synonymous_variant,SH3D21,SILENT,NM_001162530.1:p.Pro157Pro/c.471T>G,ccT/ccG,LOW,,0.421126,0.7192,rs35343437,,,,,,chr1,36773405,36773405,T,G,het,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro157Pro/c.471T>G|756|SH3D21|protein_coding|CODING|NM_001162530.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro46Pro/c.138T>G|645|SH3D21|protein_coding|CODING|NM_024676.4|3|1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,IMR90:H3K36me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,NHEK:H3K4me2,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,HMEC:H3K4me2,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,GM06990:H3K4me3",,,,0.3916,0.562,0.4443,0.40,0.19,0.49,,,,,,,,,,,,,,,,
missense_variant,STK40,MISSENSE,NM_001282546.1:p.Ala400Thr/c.1198G>A,Gcc/Acc,MODERATE,COSM3927627(2),0.179113,0.1429,rs3795498,0.25(T),"0.005,0.002(B,B)",0.345(N),-1.1061(T),,chr1,36807481,36807481,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala400Thr/c.1198G>A|440|STK40|protein_coding|CODING|NM_001282546.1|11|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala395Thr/c.1183G>A|435|STK40|protein_coding|CODING|NM_001282547.1|11|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala395Thr/c.1183G>A|435|STK40|protein_coding|CODING|NM_032017.2|12|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.2065,0.1369,0.2336,0.23,0.19,0.25,,0.000003(D),0.000(P),"-0.02,-0.02,-0.02(T,T,T)",0.0000(T),0.061,3.554608,5.11,5.11,0.514000,2.370000,5.664000,0.936000,1.000000,1.000000,17.5055
missense_variant,OSCP1,MISSENSE,NM_145047.4:p.Gly307Arg/c.919G>A,Gga/Aga,MODERATE,COSM146468(3),0.252995,0.2599,rs2275477,0.44(T),"0.023,0.01(B,B)",1.79(L),-0.9750(T),,chr1,36886117,36886117,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly307Arg/c.919G>A|379|OSCP1|protein_coding|CODING|NM_145047.4|8|1),CD4:DNase1,,,,0.273,0.1542,0.2068,0.25,0.31,0.21,,0.000284(N),0.000(P),"1.96,1.97,1.55,1.96(T,T,T,T)",0.0000(T),0.217,3.191378,6.07,5.17,0.586000,1.593000,3.762000,0.964000,1.000000,0.998000,10.6431
missense_variant,OSCP1,MISSENSE,NM_145047.4:p.Thr131Ala/c.391A>G,Acc/Gcc,MODERATE,COSM1342321(2),0.208067,0.2599,rs34409118,0.96(T),"0.001,0.0,0.001(B,B,B)",-0.945(N),-0.9698(T),,chr1,36898067,36898067,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr131Ala/c.391A>G|379|OSCP1|protein_coding|CODING|NM_145047.4|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr131Ala/c.391A>G|223|OSCP1|protein_coding|CODING|NM_206837.2|3|1)","IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K36me3",,,,0.273,0.1369,0.2048,0.20,0.18,0.21,,0.200427(N),0.999(P),"1.64,1.64,1.64,1.64,1.64,1.64(T,T,T,T,T,T)",0.0000(T),0.036,-0.521352,5.6,-1.39,0.533000,-0.153000,0.340000,0.462000,0.993000,0.980000,7.0272
synonymous_variant,MRPS15,SILENT,NM_031280.3:p.Pro69Pro/c.207C>T,ccC/ccT,LOW,,0.978634,1,rs7065,,,,,,chr1,36927733,36927733,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro69Pro/c.207C>T|257|MRPS15|protein_coding|CODING|NM_031280.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.9836,0.9784,0.9334,0.95,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,CSF3R,SILENT,NM_156039.3:p.Thr420Thr/c.1260T>C,acT/acC,LOW,COSM1748391(3),0.592452,0.4484,rs3917981,,,,-0.9936(T),,chr1,36937059,36937059,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr420Thr/c.1260T>C|836|CSF3R|protein_coding|CODING|NM_000760.3|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr420Thr/c.1260T>C|863|CSF3R|protein_coding|CODING|NM_156039.3|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr420Thr/c.1260T>C|783|CSF3R|protein_coding|CODING|NM_172313.2|10|1)","IMR90:H3K27me3,H1ESC:H3K27me3",,,,0.7096,0.4006,0.5666,0.61,0.72,0.55,,,1.000(P),,0.0000(T),.,-1.272378,5.3,-0.181,-1.983000,-0.619000,-0.839000,0.000000,0.007000,0.000000,1.2369
synonymous_variant,CSF3R,SILENT,NM_156039.3:p.Arg418Arg/c.1254T>C,cgT/cgC,LOW,COSM4143874(1),0.246406,0.13,rs3917980,,,,-0.9711(T),,chr1,36937065,36937065,A,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg418Arg/c.1254T>C|836|CSF3R|protein_coding|CODING|NM_000760.3|10|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg418Arg/c.1254T>C|863|CSF3R|protein_coding|CODING|NM_156039.3|10|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg418Arg/c.1254T>C|783|CSF3R|protein_coding|CODING|NM_172313.2|10|1)","IMR90:H3K27me3,H1ESC:H3K27me3",,,,0.4059,0.2003,0.338,0.30,0.20,0.35,,,0.060(P),,0.0000(T),.,-0.820494,5.3,-8.29,0.459000,-1.460000,-2.296000,0.006000,0.001000,0.000000,4.0217
synonymous_variant,ZC3H12A,SILENT,NM_025079.2:p.Ala500Ala/c.1500C>T,gcC/gcT,LOW,COSM3997508(3),0.0413339,0.0486,rs41267299,,,,,,chr1,37948912,37948912,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala500Ala/c.1500C>T|599|ZC3H12A|protein_coding|CODING|NM_025079.2|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K36me3,NHEK:DNase1",,,,0.0348,0.0461,0.0865,0.06,0.01,0.08,,,,,,,,,,,,,,,,
missense_variant,EPHA10,MISSENSE,NM_001099439.1:p.Phe281Ile/c.841T>A,Ttc/Atc,MODERATE,COSM3749052(2),0.353235,0.4831,rs4653328,0.34(T),"0.0,0.001(B,B)",-0.895(N),-1.0112(T),,chr1,38227086,38227086,A,T,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe281Ile/c.841T>A|295|EPHA10|protein_coding|CODING|NM_173641.2|3|1),missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe281Ile/c.841T>A|1008|EPHA10|protein_coding|CODING|NM_001099439.1|3|1)","K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.2106,0.3012,0.2833,0.31,0.40,0.27,,0.889212(N),0.000(P),"-4.32,-4.32,4.58(D,D,T)",0.0000(T),0.047,0.754258,4.23,-1.55,-1.255000,-0.327000,-0.342000,0.397000,0.803000,0.003000,3.9977
missense_variant,INPP5B,MISSENSE,NM_005540.2:p.Met665Thr/c.1994T>C,aTg/aCg,MODERATE,,0.523562,0.4752,rs11488569,0.65(T),"0.0,0.0(B,B)",-1.645(N),-0.9500(T),,chr1,38338795,38338795,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met501Thr/c.1502T>C|749|INPP5B|protein_coding|CODING|NM_001297434.1|13|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met665Thr/c.1994T>C|913|INPP5B|protein_coding|CODING|NM_005540.2|19|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.6155,0.5994,0.7266,0.60,0.38,0.70,,0.944196(N),1.000(P),"-3.09,-2.92,-2.92,-2.92(D,D,D,D)",0.0000(T),0.033,-1.564422,5.59,2.59,-0.844000,0.026000,1.586000,0.963000,0.403000,0.489000,5.429
missense_variant,INPP5B,MISSENSE,NM_001297434.1:p.Gly6Ser/c.16G>A,Ggc/Agc,MODERATE,COSM4143892(2),0.355232,0.3185,rs35267671,0(D),0.077(B),,-0.9358(T),,chr1,38397369,38397369,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly6Ser/c.16G>A|749|INPP5B|protein_coding|CODING|NM_001297434.1|1|1),intron_variant(MODIFIER|||c.532+216G>A|913|INPP5B|protein_coding|CODING|NM_005540.2|7|1)","H1ESC:PolII,NHEK:H3K9ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,IMR90:H3K36me3,K562:E2F6,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:PolII,NHEK:H3K4me3,GM12878:Pbx3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:SP2,HUVEC:H3K9ac,H1ESC:SP1,GM12878:H3K79me2,IMR90:DNase1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,H1ESC:DNase1,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:ELF1,K562:H3K4me2,HepG2:SP1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Cfos,GM12878:Yy1,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,GM06990:H3K4me3,K562:E2F4,HUVEC:DNase1",,,,0.4673,0.4366,0.5835,,,,,0.150793(N),0.000(P),"-3.14,-2.92,-2.92,0.54(D,D,D,T)",0.0000(T),0.122,1.572544,4.74,-1.97,-0.373000,-0.464000,0.324000,0.063000,0.628000,0.106000,1.1367
synonymous_variant,INPP5B,SILENT,NM_005540.2:p.His45His/c.135C>T,caC/caT,LOW,COSM3751175(2),0.201877,0.2401,rs871524,,,,,,chr1,38411445,38411445,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His45His/c.135C>T|913|INPP5B|protein_coding|CODING|NM_005540.2|3|1),"H1ESC:H3K36me3,K562:H3K4me3,IMR90:H3K36me3,K562:PolII,IMR90:H3K27ac,K562:H3K9ac,K562:H3K27ac,K562:H3K4me1,HUVEC:H3K27ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1",,,,0.2403,0.2262,0.3181,0.23,0.08,0.31,,,,,,,,,,,,,,,,
synonymous_variant,SF3A3,SILENT,NM_006802.2:p.Gly211Gly/c.633G>A,ggG/ggA,LOW,,0.000199681,0,rs143971922,,,,,,chr1,38446315,38446315,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly211Gly/c.633G>A|501|SF3A3|protein_coding|CODING|NM_006802.2|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,FHL3,MISSENSE,NM_004468.4:p.Leu258Val/c.772C>G,Ctg/Gtg,MODERATE,,0.000599042,0,rs145496383,0(D),0.998(D),3.31(M),1.0486(D),,chr1,38463148,38463148,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu150Val/c.448C>G|172|FHL3|protein_coding|CODING|NM_001243878.1|5|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu258Val/c.772C>G|280|FHL3|protein_coding|CODING|NM_004468.4|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:PolII,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0,0,0.002,0.00,0.00,0.00,,0.000002(D),1.000(D),-3.13(D),0.9031(D),0.832,4.462930,4.75,4.75,0.467000,2.183000,6.481000,0.982000,1.000000,1.000000,17.7493
missense_variant,GJA9,MISSENSE,NM_030772.4:p.Val497Ile/c.1489G>A,Gta/Ata,MODERATE,,0.310903,0.2718,rs880303,0.45(T),0.0(B),0(N),-0.8784(T),,chr1,39340282,39340282,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val497Ile/c.1489G>A|515|GJA9|protein_coding|CODING|NM_030772.4|2|1),upstream_gene_variant(MODIFIER||1232||103|MYCBP|protein_coding|CODING|NM_012333.4||1),upstream_gene_variant(MODIFIER||1232|||MYCBP||CODING|NR_037632.1||1),intron_variant(MODIFIER|||n.195+6822G>A||GJA9-MYCBP||NON_CODING|NR_037637.1|1|1),intron_variant(MODIFIER|||n.195+6822G>A||GJA9-MYCBP||NON_CODING|NR_037636.1|1|1),intron_variant(MODIFIER|||n.196-1520G>A||GJA9-MYCBP||NON_CODING|NR_037635.1|1|1),intron_variant(MODIFIER|||n.1611+168G>A||GJA9-MYCBP||NON_CODING|NR_037634.1|2|1),non_coding_exon_variant(MODIFIER|||n.1779G>A||GJA9-MYCBP||NON_CODING|NR_037633.1|2|1)","NHEK:H3K36me3,K562:DNase1",,,,0.3088,0.4813,0.4523,0.36,0.19,0.46,,0.000558(N),1.000(P),"-4.36,-4.36(D,D)",0.0000(T),0.024,0.758789,4.16,-4.7,-0.471000,-0.846000,0.499000,0.038000,0.000000,0.000000,1.938
missense_variant,RHBDL2,MISSENSE,NM_017821.3:p.Leu273Met/c.817C>A,Ctg/Atg,MODERATE,,0.310503,0.2718,rs2147914,0.24(T),"0.854,0.74(P,P)",1.5(L),-0.8472(T),,chr1,39352271,39352271,G,T,hom,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu273Met/c.817C>A|303|RHBDL2|protein_coding|CODING|NM_017821.3|8|1),"K562:H3K27me3,NHEK:H3K36me3,GM12878:H3K36me3",,,,0.3088,0.4798,0.4513,0.36,0.19,0.46,,0.000020(D),0.000(P),"1.41,1.41,1.36,1.35(T,T,T,T)",0.0000(T),0.221,3.885071,6.03,6.03,0.655000,2.861000,2.757000,0.988000,1.000000,1.000000,10.462
synonymous_variant,MACF1,SILENT,NM_012090.5:p.Gln257Gln/c.771G>A,caG/caA,LOW,COSM3751179(1),0.59405,0.6498,rs2275188,,,,,,chr1,39748921,39748921,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln257Gln/c.771G>A|5430|MACF1|protein_coding|CODING|NM_012090.5|7|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.7996,0.6657,0.7167,0.58,0.35,0.69,,,,,,,,,,,,,,,,
missense_variant,KIAA0754,MISSENSE,NM_015038.1:p.Gly441Arg/c.1321G>A,Gga/Aga,MODERATE,COSM261556(1),,,,0(D),0.027(B),0.55(N),-0.7357(T),,chr1,39877258,39877258,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly441Arg/c.1321G>A|1427|KIAA0754|protein_coding|CODING|NM_015038.1|1|1),intron_variant(MODIFIER|||c.9631-10788G>A|5430|MACF1|protein_coding|CODING|NM_012090.5|52|1)","NH-A:H3K4me3,H1ESC:H3K36me3,HSMM:H3K9ac,HepG2:H3K4me2,IMR90:H3K36me3,HUVEC:H3K4me2,IMR90:H3K9ac,HUVEC:H3K4me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,NHEK:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,IMR90:H4K20me1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me2,K562:H3K4me2,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,,,,,,,,,1.000(N),-2.01(D),0.3348(T),0.205,1.027048,4.41,-2.41,-0.136000,-0.328000,0.451000,0.009000,0.000000,0.077000,6.0916
missense_variant,MACF1,MISSENSE,NM_012090.5:p.Ser4670Thr/c.14009G>C,aGt/aCt,MODERATE,,0.521965,0.3274,rs668556,1(T),"0.0,0.001(B,B)",-0.55(N),-1.0297(T),,chr1,39914363,39914363,G,C,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser4670Thr/c.14009G>C|5430|MACF1|protein_coding|CODING|NM_012090.5|79|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.3108,0.4784,0.5775,0.64,0.77,0.58,,0.036754(N),0.998(P),"0.68,0.68,0.68,0.68,0.68,0.68(T,T,T,T,T,T)",0.0000(T),0.184,-0.306295,6.17,5.26,-0.120000,1.643000,0.759000,0.949000,0.995000,0.865000,8.1401
missense_variant,BMP8A,MISSENSE,NM_181809.3:p.Met84Val/c.250A>G,Atg/Gtg,MODERATE,COSM3746962(3),0.672324,0.6825,rs4660269,,0.021(B),1.1(L),-1.0026(T),,chr1,39957913,39957913,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met84Val/c.250A>G|402|BMP8A|protein_coding|CODING|NM_181809.3|1|1),"HMEC:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3",,,,0.8609,0.8069,0.8887,0.79,0.52,0.92,,0.000001(U),0.016(P),-0.1(T),0.0000(T),0.095,1.871113,3.32,3.32,0.254000,1.285000,2.578000,0.758000,1.000000,1.000000,7.876
missense_variant,BMP8A,MISSENSE,NM_181809.3:p.Arg293His/c.878G>A,cGc/cAc,MODERATE,COSM1599867(6),,,rs6525,,0.0(B),-2.095(N),-0.9846(T),,chr1,39988084,39988084,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg293His/c.878G>A|402|BMP8A|protein_coding|CODING|NM_181809.3|5|1),non_coding_exon_variant(MODIFIER|||n.2505C>T||PPIEL||NON_CODING|NR_003929.2|9|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.035176(N),1.000(P),-0.96(T),0.0000(T),0.156,0.277466,4.4,3.27,-0.524000,0.192000,0.457000,0.071000,0.905000,0.004000,8.0955
missense_variant,HEYL,MISSENSE,NM_014571.3:p.His47Arg/c.140A>G,cAc/cGc,MODERATE,COSM4143924(1),0.989217,0.999,rs784625,1(T),0.0(B),-2.815(N),-0.9154(T),,chr1,40098328,40098328,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His47Arg/c.140A>G|328|HEYL|protein_coding|CODING|NM_014571.3|2|1),"HSMM:H3K9ac,HMEC:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27ac,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HSMM:H3K4me3,H1ESC:DNase1,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.9611,0.9942,0.9891,0.99,1.00,0.99,,0.000000(N),1.000(P),"-4.55,-4.55(D,D)",0.0000(T),0.237,0.836927,4.16,4.16,-0.246000,1.350000,4.840000,0.975000,1.000000,1.000000,8.2608
synonymous_variant,HPCAL4,SILENT,NM_001282396.1:p.Arg115Arg/c.345C>A,cgC/cgA,LOW,COSM426246(3),0.85623,0.8165,rs784634,,,,,,chr1,40149642,40149642,G,T,hom,"synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg115Arg/c.345C>A|191|HPCAL4|protein_coding|CODING|NM_001282396.1|4|1),synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg115Arg/c.345C>A|191|HPCAL4|protein_coding|CODING|NM_016257.3|3|1),intron_variant(MODIFIER|||c.162+472C>A|119|HPCAL4|protein_coding|CODING|NM_001282397.1|2|1)","HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,CD4:DNase1,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,NH-A:H3K27me3",,,,0.8661,0.8256,0.825,0.83,0.88,0.81,,,,,,,,,,,,,,,,
synonymous_variant,HPCAL4,SILENT,NM_001282396.1:p.Ser40Ser/c.120C>T,agC/agT,LOW,COSM146475(3),0.355831,0.2698,rs9662128,,,,,,chr1,40150156,40150156,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser40Ser/c.120C>T|191|HPCAL4|protein_coding|CODING|NM_001282396.1|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser40Ser/c.120C>T|119|HPCAL4|protein_coding|CODING|NM_001282397.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser40Ser/c.120C>T|191|HPCAL4|protein_coding|CODING|NM_016257.3|2|1)","HMEC:H3K27me3,GM06990:H3K27me3,K562:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3,NH-A:H3K27me3",,,,0.3609,0.2406,0.3519,0.37,0.46,0.33,,,,,,,,,,,,,,,,
missense_variant,PPIE,MISSENSE,NM_203456.2:p.Glu282Gly/c.845A>G,gAa/gGa,MODERATE,COSM3746964(1),0.365815,0.3075,rs2463260,1(T),0.0(B),,-1.0266(T),,chr1,40229368,40229368,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu282Gly/c.845A>G|296|PPIE|protein_coding|CODING|NM_203456.2|10|1),3_prime_UTR_variant(MODIFIER||1072|c.*35A>G|314|PPIE|protein_coding|CODING|NM_001195007.1|11|1),intron_variant(MODIFIER|||c.948+16T>C|402|BMP8B|protein_coding|CODING|NM_001720.3|5|1)","GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4888,0.3559,0.4473,,,,,,1.000(P),1.1(T),0.0000(T),0.068,0.466132,3.17,-6.03,-0.746000,-1.798000,-0.266000,0.004000,0.000000,0.000000,7.4386
missense_variant,BMP8B,MISSENSE,NM_001720.3:p.Ser276Thr/c.827G>C,aGc/aCc,MODERATE,COSM4143929(1),,,rs179472,0.54(T),"0.001,0.001(B,B)",-0.805(N),-1.0359(T),,chr1,40230336,40230336,C,G,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser276Thr/c.827G>C|402|BMP8B|protein_coding|CODING|NM_001720.3|4|1),downstream_gene_variant(MODIFIER||750||314|PPIE|protein_coding|CODING|NM_001195007.1||1),downstream_gene_variant(MODIFIER||750||296|PPIE|protein_coding|CODING|NM_203456.2||1)",HepG2:H3K27me3,,,,,,,,,,,0.847354(N),1.000(P),"-1.04,0.15(T,T)",0.0000(T),0.042,-1.933696,3.86,0.499,-0.222000,-0.008000,-0.204000,0.028000,0.289000,0.005000,9.6413
synonymous_variant,TRIT1,SILENT,NM_017646.4:p.Pro11Pro/c.33C>T,ccC/ccT,LOW,COSM426251(5),0.508586,0.5933,rs3845570,,,,,,chr1,40349131,40349131,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro11Pro/c.33C>T|467|TRIT1|protein_coding|CODING|NM_017646.4|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,CD4:H2AZ,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,K562:Cmyc,HUVEC:Cmyc,CD4:H3K18ac,K562:E2F6,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,NHEK:H3K4me3,IMR90:H3K27ac,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:H3K9ac,HUVEC:H3K9ac,K562:FAIRE,H1ESC:H3K27ac,HepG2:TAF1,GM12878:H3K79me2,K562:H3K79me2,IMR90:DNase1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,H1ESC:DNase1,HeLa-S3:TAF1,GM12878:Max,CD4:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:HEY1,HepG2:PolII,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Yy1,IMR90:H3K4me3,H1ESC:H3K4me3,K562:DNase1,HepG2:HEY1,GM06990:H3K4me3,GM12878:H2AZ,K562:E2F4,IMR90:H4K8ac,GM12878:Sin3Ak20,HUVEC:DNase1,H1ESC:H4K5ac",,,,0.4632,0.4107,0.3946,0.45,0.57,0.39,,,,,,,,,,,,,,,,
missense_variant,MYCL,MISSENSE,NM_001033082.2:p.Thr392Ser/c.1175C>G,aCt/aGt,MODERATE,COSM3927628(1),0.935703,1,rs3134614,0.71(T),0.0(B),-0.345(N),-0.9550(T),,chr1,40363054,40363054,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr362Ser/c.1085C>G|364|MYCL|protein_coding|CODING|NM_001033081.2|2|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr392Ser/c.1175C>G|394|MYCL|protein_coding|CODING|NM_001033082.2|3|1)","K562:TAF7,NH-A:DNase1,HSMM:DNase1,K562:PolII,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,HSMM:H3K27ac,K562:H3K36me3,IMR90:DNase1,HepG2:H3K27me3,K562:HEY1,K562:BCLAF1",,,,0.8558,0.9035,0.8917,0.90,0.97,0.87,,0.000013(N),0.000(P),"-0.9,-1.1(T,T)",0.0000(T),0.063,-1.018913,5.46,4.53,-0.120000,1.316000,0.985000,0.979000,1.000000,0.992000,5.6366
missense_variant,CAP1,MISSENSE,NM_001105530.1:p.Cys229Gly/c.685T>G,Tgt/Ggt,MODERATE,,1,1,rs11207440,0.68(T),"0.0,0.0(B,B)",-1.2(N),-0.9599(T),,chr1,40533266,40533266,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys229Gly/c.685T>G|475|CAP1|protein_coding|CODING|NM_001105530.1|8|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys229Gly/c.685T>G|475|CAP1|protein_coding|CODING|NM_006367.3|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.004823(N),1.000(P),"2.85,2.85,2.85,2.85,2.85,2.85,2.85,2.05(T,T,T,T,T,T,T,T)",0.0000(T),0.384,1.077878,4.56,4.56,-0.127000,1.298000,2.322000,0.960000,0.990000,0.965000,12.2275
missense_variant,CAP1,MISSENSE,NM_001105530.1:p.Cys236Gly/c.706T>G,Tgc/Ggc,MODERATE,,1,1,rs6665926,0.29(T),"0.0,0.0(B,B)",-2.065(N),-0.9376(T),,chr1,40533287,40533287,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys236Gly/c.706T>G|475|CAP1|protein_coding|CODING|NM_001105530.1|8|1),missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys236Gly/c.706T>G|475|CAP1|protein_coding|CODING|NM_006367.3|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000000(N),1.000(P),"1.62,1.62,1.62,1.62,1.62,1.62,1.62,1.62(T,T,T,T,T,T,T,T)",0.0000(T),0.339,0.742297,4.88,4.88,-0.127000,1.298000,4.185000,0.235000,0.996000,1.000000,12.535
missense_variant,CAP1,MISSENSE,NM_001105530.1:p.Ile245Ser/c.734T>G,aTt/aGt,MODERATE,COSM4143932(1),1,1,rs6665933,0.85(T),"0.0,0.0(B,B)",-1.285(N),-0.9605(T),,chr1,40533315,40533315,T,G,hom,"missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile245Ser/c.734T>G|475|CAP1|protein_coding|CODING|NM_001105530.1|8|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile245Ser/c.734T>G|475|CAP1|protein_coding|CODING|NM_006367.3|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.007178(N),0.998(P),"2.61,2.61,2.61,2.61,2.61,2.61,2.61,2.61(T,T,T,T,T,T,T,T)",0.0000(T),0.287,-0.358223,4.88,4.88,-0.127000,1.298000,1.217000,0.355000,1.000000,0.998000,12.535
missense_variant,CAP1,MISSENSE,NM_001105530.1:p.Cys247Gly/c.739T>G,Tgc/Ggc,MODERATE,COSM4143933(1),1,1,rs6665936,0.48(T),"0.0,0.0(B,B)",-1.245(N),-0.9844(T),,chr1,40533320,40533320,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys247Gly/c.739T>G|475|CAP1|protein_coding|CODING|NM_001105530.1|8|1),missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys247Gly/c.739T>G|475|CAP1|protein_coding|CODING|NM_006367.3|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.013942(N),1.000(P),"2.82,2.82,0.02,2.82,2.82,2.82,2.82,2.82(T,T,T,T,T,T,T,T)",0.0000(T),0.264,-0.366481,4.88,2.96,-0.127000,0.664000,0.200000,0.224000,0.998000,0.006000,6.5597
missense_variant,CAP1,MISSENSE,NM_001105530.1:p.Tyr249Asp/c.745T>G,Tat/Gat,MODERATE,,1,1,rs6665937,0.97(T),"0.0,0.0(B,B)",-1.495(N),-0.9594(T),,chr1,40533326,40533326,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr249Asp/c.745T>G|475|CAP1|protein_coding|CODING|NM_001105530.1|8|1),missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr249Asp/c.745T>G|475|CAP1|protein_coding|CODING|NM_006367.3|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000115(N),1.000(P),"2.8,2.8,2.8,2.8,2.8,2.8,2.8,2.8(T,T,T,T,T,T,T,T)",0.0000(T),0.336,-0.408540,4.88,4.88,-0.127000,1.298000,5.822000,0.035000,0.931000,1.000000,12.535
missense_variant,CAP1,MISSENSE,NM_001105530.1:p.Ser256Ala/c.766T>G,Tca/Gca,MODERATE,,1,1,rs6665944,1(T),"0.0,0.001(B,B)",-2.025(N),-0.9529(T),,chr1,40533347,40533347,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser256Ala/c.766T>G|475|CAP1|protein_coding|CODING|NM_001105530.1|8|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser256Ala/c.766T>G|475|CAP1|protein_coding|CODING|NM_006367.3|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000632(N),1.000(P),"3.07,3.07,-0.21,3.07,3.07,3.07,3.07,3.07(T,T,T,T,T,T,T,T)",0.0000(T),0.293,0.035701,4.88,4.88,-0.127000,1.298000,4.552000,0.781000,1.000000,1.000000,8.3523
missense_variant,RLF,MISSENSE,NM_012421.3:p.Glu1784Asp/c.5352A>T,gaA/gaT,MODERATE,COSM426263(2),0.148363,0.0625,rs10889205,0.63(T),"0.001,0.0(B,B)",0(N),-1.0122(T),,chr1,40705726,40705726,A,T,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu1784Asp/c.5352A>T|1914|RLF|protein_coding|CODING|NM_012421.3|8|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.046,0.1671,0.1819,0.21,0.23,0.20,,0.076226(N),1.000(P),2.59(T),0.0000(T),0.02,-1.111075,5.87,-11.7,-0.301000,-3.937000,-3.576000,0.979000,0.059000,0.000000,9.5397
synonymous_variant,SMAP2,SILENT,NM_022733.2:p.Ser223Ser/c.669C>G,tcC/tcG,LOW,,0.948083,0.9772,rs209606,,,,,,chr1,40881041,40881041,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser193Ser/c.579C>G|399|SMAP2|protein_coding|CODING|NM_001198978.1|7|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser218Ser/c.654C>G|424|SMAP2|protein_coding|CODING|NM_001198979.1|7|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser143Ser/c.429C>G|349|SMAP2|protein_coding|CODING|NM_001198980.1|7|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser223Ser/c.669C>G|429|SMAP2|protein_coding|CODING|NM_022733.2|7|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9417,0.9222,0.8847,0.92,0.98,0.88,,,,,,,,,,,,,,,,
missense_variant,ZFP69B,MISSENSE,NM_023070.2:p.Cys115Tyr/c.344G>A,tGt/tAt,MODERATE,,0.221645,0.2986,rs2272994,0.26(T),0.0(B),-0.34(N),-0.9554(T),,chr1,40923019,40923019,G,A,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys115Tyr/c.344G>A|534|ZFP69B|protein_coding|CODING|NM_023070.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.3516,0.2366,0.17,0.06,0.22,,,0.000(P),"5.77,5.77(T,T)",0.0000(T),0.051,1.588414,3.4,0.988,-0.294000,0.174000,-0.085000,0.679000,0.987000,0.002000,4.1937
missense_variant,EXO5,MISSENSE,NM_022774.1:p.Asp115Asn/c.343G>A,Gac/Aac,MODERATE,,0.106629,0.0288,rs1134586,0.11(T),0.15(B),1.355(L),-1.0556(T),,chr1,40980559,40980559,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp115Asn/c.343G>A|373|EXO5|protein_coding|CODING|NM_022774.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1646,0.111,0.1839,0.16,0.10,0.19,,0.550512(N),0.431(P),"1.56,1.56,1.56,1.56,1.56,1.56,1.56,1.56(T,T,T,T,T,T,T,T)",0.0001(T),0.019,2.673797,4.56,3.65,0.650000,1.523000,1.363000,0.649000,0.980000,0.986000,8.585
missense_variant,EXO5,MISSENSE,NM_022774.1:p.Gly172Val/c.515G>T,gGg/gTg,MODERATE,,0.542133,0.5,rs11208299,1(T),0.0(B),-2.675(N),-0.9509(T),,chr1,40980731,40980731,G,T,het,missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly172Val/c.515G>T|373|EXO5|protein_coding|CODING|NM_022774.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5481,0.536,0.3757,0.46,0.64,0.37,,0.477953(N),0.940(P),"1.83,1.83,1.83,1.83,1.83,1.83,1.83(T,T,T,T,T,T,T)",0.0000(T),0.385,-1.118333,5.09,3.96,-0.264000,0.504000,2.213000,0.962000,1.000000,1.000000,5.3966
synonymous_variant,NFYC,SILENT,NM_001142588.1:p.Ser18Ser/c.54C>T,agC/agT,LOW,COSM3751193(1),0.482029,0.4692,rs1057925,,,,,,chr1,41204569,41204569,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser18Ser/c.54C>T|334|NFYC|protein_coding|CODING|NM_001142587.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser18Ser/c.54C>T|354|NFYC|protein_coding|CODING|NM_001142588.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser18Ser/c.54C>T|297|NFYC|protein_coding|CODING|NM_001142589.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser18Ser/c.54C>T|301|NFYC|protein_coding|CODING|NM_001142590.1|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser18Ser/c.54C>T|335|NFYC|protein_coding|CODING|NM_014223.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4417,0.5115,0.5895,0.54,0.45,0.58,,,,,,,,,,,,,,,,
synonymous_variant,KCNQ4,SILENT,NM_004700.3:p.Ala259Ala/c.777T>C,gcT/gcC,LOW,COSM3746965(2),0.563299,0.4683,rs4660468,,,,,,chr1,41285087,41285087,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala259Ala/c.777T>C|695|KCNQ4|protein_coding|CODING|NM_004700.3|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala259Ala/c.777T>C|641|KCNQ4|protein_coding|CODING|NM_172163.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000038247.1,,0.5624,0.562,0.6978,0.68,0.58,0.73,,,0.000(P),,,.,1.909646,5.08,-6.66,-1.109000,-0.695000,-4.231000,0.971000,0.983000,0.000000,5.1521
missense_variant,SLFNL1,MISSENSE,NM_001168247.2:p.Arg144Thr/c.431G>C,aGa/aCa,MODERATE,COSM3751197(1),0.182109,0.1687,rs3738368,0.01(D),"0.592,0.453,0.335(P,P,B)",1.845(L),-1.0619(T),,chr1,41485902,41485902,C,G,het,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg144Thr/c.431G>C|407|SLFNL1|protein_coding|CODING|NM_001168247.2|3|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg144Thr/c.431G>C|348|SLFNL1|protein_coding|CODING|NM_001300859.1|3|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg144Thr/c.431G>C|407|SLFNL1|protein_coding|CODING|NM_144990.3|2|1),intron_variant(MODIFIER|||n.3812+1829C>G||SLFNL1-AS1||NON_CODING|NR_037868.1|1|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2178,0.2896,0.3042,0.23,0.07,0.31,,0.045022(N),0.906(P),"0.24,0.24,0.24,0.24,0.24,0.24(T,T,T,T,T,T)",0.0000(T),0.19,1.197201,5.63,3.77,-0.291000,0.746000,0.322000,0.015000,0.233000,0.301000,8.5891
missense_variant,FOXO6,MISSENSE,NM_001291281.1:p.Pro396Ser/c.1186C>T,Ccg/Tcg,MODERATE,COSM4143954(2),,,rs12092825,0.03(D),,,-1.2446(T),,chr1,41848060,41848060,C,T,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro396Ser/c.1186C>T|492|FOXO6|protein_coding|CODING|NM_001291281.1|3|1),"HeLa-S3:DNase1,GM12878:H3K27me3,HeLa-S3:Max,HUVEC:PolII,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HeLa-S3:H3K4me3,HepG2:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,0.000037(U),1.000(P),-3.78(D),0.0000(T),0.069,1.036797,2.83,2.83,0.264000,1.635000,0.442000,0.725000,0.723000,0.007000,13.0638
synonymous_variant,FOXO6,SILENT,NM_001291281.1:p.Pro474Pro/c.1422G>A,ccG/ccA,LOW,COSM4143955(1),0.386781,0.3482,rs4359027,0(D),,,-0.9600(T),,chr1,41848296,41848296,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro474Pro/c.1422G>A|492|FOXO6|protein_coding|CODING|NM_001291281.1|3|1),"HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HeLa-S3:H3K4me3,HepG2:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3",,,,0.3763,0.6037,0.5089,,,,,0.007005(N),1.000(P),-3.86(D),0.0000(T),0.055,0.210244,3.43,-2.49,0.459000,-0.375000,-1.041000,0.072000,0.909000,0.001000,9.3244
missense_variant,HIVEP3,MISSENSE,NM_024503.4:p.Thr2339Ala/c.7015A>G,Acc/Gcc,MODERATE,COSM3749053(11),0.963059,1,rs9439043,1(T),"0.001,0.0(B,B)",-0.55(N),-0.9893(T),,chr1,41976328,41976328,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr2338Ala/c.7012A>G|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|8|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr2339Ala/c.7015A>G|2406|HIVEP3|protein_coding|CODING|NM_024503.4|9|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9899,0.998,0.97,0.91,1.00,,0.392193(N),1.000(P),"3.45,3.44,3.44,3.45(T,T,T,T)",0.0000(T),0.02,-2.459584,5.27,2.17,-2.304000,0.112000,0.034000,0.001000,0.000000,0.137000,8.5616
missense_variant,HIVEP3,MISSENSE,NM_024503.4:p.Asp2109Ala/c.6326A>C,gAc/gCc,MODERATE,,,,rs2991344,1(T),"0.0,0.0(B,B)",0(N),-0.9599(T),,chr1,41978566,41978566,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp2109Ala/c.6326A>C|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|7|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp2109Ala/c.6326A>C|2406|HIVEP3|protein_coding|CODING|NM_024503.4|8|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,1.00,0.99,1.00,,0.024900(N),1.000(P),"3.51,3.5,3.5,3.51(T,T,T,T)",0.0000(T),0.067,-1.238315,4.61,2.66,-0.121000,0.466000,0.929000,0.261000,0.980000,0.997000,4.2595
missense_variant,HIVEP3,MISSENSE,NM_024503.4:p.Ala2023Pro/c.6067G>C,Gct/Cct,MODERATE,,0.994209,1,rs2483689,1(T),"0.0,0.0(B,B)",-0.46(N),-0.9473(T),,chr1,41978825,41978825,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala2023Pro/c.6067G>C|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|7|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala2023Pro/c.6067G>C|2406|HIVEP3|protein_coding|CODING|NM_024503.4|8|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,0.037197(N),1.000(P),"3.66,3.64,3.64,3.66(T,T,T,T)",0.0000(T),0.053,-1.722429,2.9,2.9,-0.120000,0.539000,4.047000,0.003000,0.004000,1.000000,11.6622
synonymous_variant,HIVEP3,SILENT,NM_024503.4:p.Ala1912Ala/c.5736T>C,gcT/gcC,LOW,COSM426277(5),0.734425,0.9931,rs615177,,,,,,chr1,41979156,41979156,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1912Ala/c.5736T>C|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|7|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1912Ala/c.5736T>C|2406|HIVEP3|protein_coding|CODING|NM_024503.4|8|1)","NHEK:CTCF,HeLa-S3:DNase1,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,K562:Znf263,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,K562:H3K27me3,HepG2:CTCF,HepG2:H3K27me3,GM06990:H3K36me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.7342,0.719,0.5835,0.62,0.65,0.60,,,,,,,,,,,,,,,,
synonymous_variant,HIVEP3,SILENT,NM_024503.4:p.Arg1286Arg/c.3856C>A,Cgg/Agg,LOW,,0.121206,0.0446,rs12132697,,,,,,chr1,42046613,42046613,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1286Arg/c.3856C>A|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|3|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1286Arg/c.3856C>A|2406|HIVEP3|protein_coding|CODING|NM_024503.4|4|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1963,0.1311,0.2505,0.19,0.06,0.25,,,,,,,,,,,,,,,,
synonymous_variant,HIVEP3,SILENT,NM_024503.4:p.Gln1219Gln/c.3657G>A,caG/caA,LOW,,0.977236,1,rs2810565,,,,,,chr1,42046812,42046812,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1219Gln/c.3657G>A|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1219Gln/c.3657G>A|2406|HIVEP3|protein_coding|CODING|NM_024503.4|4|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9942,0.999,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,HIVEP3,MISSENSE,NM_024503.4:p.His575Arg/c.1724A>G,cAc/cGc,MODERATE,COSM4143960(1),0.988019,1,rs2810566,1(T),"0.0,0.0(B,B)",-1.7(N),-1.0123(T),,chr1,42048745,42048745,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His575Arg/c.1724A>G|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|3|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His575Arg/c.1724A>G|2406|HIVEP3|protein_coding|CODING|NM_024503.4|4|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9957,1,0.99,0.97,1.00,,0.001705(N),1.000(P),"3.57,3.57,3.57,3.57(T,T,T,T)",0.0000(T),0.059,-1.016789,4.64,2.77,-0.215000,0.217000,1.669000,0.981000,1.000000,1.000000,7.9085
synonymous_variant,HIVEP3,SILENT,NM_024503.4:p.Ser479Ser/c.1437C>T,agC/agT,LOW,COSM4143961(1),0.949281,1,rs2984694,,,,,,chr1,42049032,42049032,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser479Ser/c.1437C>T|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser479Ser/c.1437C>T|2406|HIVEP3|protein_coding|CODING|NM_024503.4|4|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9899,0.999,0.95,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HIVEP3,SILENT,NM_024503.4:p.Leu443Leu/c.1329G>C,ctG/ctC,LOW,COSM4143962(1),0.949281,1,rs2475842,,,,,,chr1,42049140,42049140,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu443Leu/c.1329G>C|2405|HIVEP3|protein_coding|CODING|NM_001127714.2|3|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu443Leu/c.1329G>C|2406|HIVEP3|protein_coding|CODING|NM_024503.4|4|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9899,0.999,0.96,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GUCA2B,SILENT,NM_007102.2:p.Ala6Ala/c.18A>G,gcA/gcG,LOW,,0.315495,0.4038,rs1047047,,,,,,chr1,42619139,42619139,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala6Ala/c.18A>G|112|GUCA2B|protein_coding|CODING|NM_007102.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2004,0.2896,0.165,0.23,0.39,0.15,,,,,,,,,,,,,,,,
missense_variant,GUCA2A,MISSENSE,NM_033553.2:p.Ser7Phe/c.20C>T,tCc/tTc,MODERATE,COSM4143964(1),0.384984,0.4028,rs2071499,0.18(T),0.367(B),2.08(M),-0.9251(T),,chr1,42630364,42630364,G,A,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser7Phe/c.20C>T|115|GUCA2A|protein_coding|CODING|NM_033553.2|1|1),"K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4172,0.572,0.6113,0.45,0.16,0.60,,0.060004(N),1.000(P),0.85(T),0.0000(T),0.228,0.811046,4.7,2.79,0.491000,0.680000,0.768000,0.120000,0.058000,0.002000,6.1467
missense_variant,FOXJ3,MISSENSE,NM_001198850.1:p.Val162Ala/c.485T>C,gTg/gCg,MODERATE,COSM3746966(2),0.795327,0.8482,rs343376,0.51(T),"0.0,0.0(B,B)",0.125(N),-0.9240(T),,chr1,42693597,42693597,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val162Ala/c.485T>C|622|FOXJ3|protein_coding|CODING|NM_001198850.1|5|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val162Ala/c.485T>C|622|FOXJ3|protein_coding|CODING|NM_001198851.1|7|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val162Ala/c.485T>C|588|FOXJ3|protein_coding|CODING|NM_001198852.1|5|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val162Ala/c.485T>C|622|FOXJ3|protein_coding|CODING|NM_014947.4|5|1)","HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7239,0.8862,0.7913,0.78,0.77,0.79,,0.038338(N),0.000(P),"-3.71,-3.71,-3.71,-3.71,-3.71,-3.71(D,D,D,D,D,D)",0.0000(T),0.091,1.684862,5.68,3.81,-0.733000,0.345000,4.028000,0.986000,0.984000,0.997000,9.4864
synonymous_variant,RIMKLA,SILENT,NM_173642.3:p.Ser349Ser/c.1047T>C,agT/agC,LOW,COSM146486(2),0.489417,0.3433,rs1055055,,,,,,chr1,42880516,42880516,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser349Ser/c.1047T>C|391|RIMKLA|protein_coding|CODING|NM_173642.3|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4202,0.5173,0.6441,0.60,0.54,0.64,,,,,,,,,,,,,,,,
missense_variant,ZMYND12,MISSENSE,NM_032257.4:p.Phe316Leu/c.946T>C,Ttt/Ctt,MODERATE,,0.649361,0.6508,rs1034268,1(T),"0.0,0.0(B,B)",-2.365(N),-0.9163(T),,chr1,42898843,42898843,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe206Leu/c.616T>C|255|ZMYND12|protein_coding|CODING|NM_001146192.1|6|1),missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe316Leu/c.946T>C|365|ZMYND12|protein_coding|CODING|NM_032257.4|7|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.7362,0.5965,0.662,0.65,0.59,0.67,,0.000005(N),1.000(P),"-0.67,2.0(T,T)",0.0000(T),0.143,0.445335,5.71,4.8,-0.119000,0.776000,1.876000,0.940000,1.000000,1.000000,7.9922
missense_variant,CLDN19,MISSENSE,NM_001185117.1:p.Arg186Cys/c.556C>T,Cgc/Tgc,MODERATE,COSM3746967(2),0.190495,0.2004,rs4660658,0.06(T),0.0(B),0(N),-1.1273(T),,chr1,43201534,43201534,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg186Cys/c.556C>T|218|CLDN19|protein_coding|CODING|NM_001185117.1|3|1),3_prime_UTR_variant(MODIFIER||5|c.*5C>T|211|CLDN19|protein_coding|CODING|NM_001123395.1|4|1),intron_variant(MODIFIER|||c.626+15C>T|224|CLDN19|protein_coding|CODING|NM_148960.2|4|1)","H1ESC:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.1217,0.2104,0.162,0.18,0.22,0.16,,,1.000(P),-2.07(D),0.0001(T),0.026,2.046969,4.28,-2.52,-0.379000,-0.822000,-1.165000,0.010000,0.000000,0.000000,4.9121
synonymous_variant,LEPRE1,SILENT,NM_022356.3:p.Gly716Gly/c.2148T>C,ggT/ggC,LOW,,1,1,rs4660662,,,,,,chr1,43212431,43212431,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly716Gly/c.2148T>C|736|LEPRE1|protein_coding|CODING|NM_022356.3|15|1),3_prime_UTR_variant(MODIFIER||73|c.*73T>C|697|LEPRE1|protein_coding|CODING|NM_001146289.1|15|1),3_prime_UTR_variant(MODIFIER||152|c.*152T>C|804|LEPRE1|protein_coding|CODING|NM_001243246.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,LEPRE1,MISSENSE,NM_001243246.1:p.Phe710Tyr/c.2129T>A,tTt/tAt,MODERATE,,0.121006,0.2163,rs3738496,0(D),0.025(B),,-0.9841(T),,chr1,43212869,43212869,A,T,het,"missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe710Tyr/c.2129T>A|804|LEPRE1|protein_coding|CODING|NM_001243246.1|14|1),intron_variant(MODIFIER|||c.2074+55T>A|697|LEPRE1|protein_coding|CODING|NM_001146289.1|14|1),intron_variant(MODIFIER|||c.2055+74T>A|736|LEPRE1|protein_coding|CODING|NM_022356.3|14|1)","NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.0613,0.1585,0.1213,0.11,0.07,0.12,,,1.000(P),1.07(T),0.0000(T),0.084,0.123995,4.66,-4.54,-0.132000,-1.252000,-0.010000,0.005000,0.000000,0.000000,1.5523
synonymous_variant,SLC2A1,SILENT,NM_006516.2:p.Pro196Pro/c.588G>A,ccG/ccA,LOW,,0.119609,0.0804,rs2229682,,,,,,chr1,43395635,43395635,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro196Pro/c.588G>A|492|SLC2A1|protein_coding|CODING|NM_006516.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000081436.1,,0.1513,0.2075,0.1928,0.15,0.05,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A1,SILENT,NM_006516.2:p.Cys133Cys/c.399C>T,tgC/tgT,LOW,COSM3751205(2),0.141374,0.1022,rs11537641,,,,,,chr1,43396414,43396414,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys133Cys/c.399C>T|492|SLC2A1|protein_coding|CODING|NM_006516.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000081433.1|RCV000128103.1,,0.1626,0.2133,0.1909,0.16,0.10,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A1,SILENT,NM_006516.2:p.Ala15Ala/c.45C>T,gcC/gcT,LOW,COSM3751209(2),0.240415,0.3185,rs1385129,,,,,,chr1,43408966,43408966,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala15Ala/c.45C>T|492|SLC2A1|protein_coding|CODING|NM_006516.2|2|1),"NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,CD4:H2BK5ac,CD4:H4K91ac,NHEK:PolII,HeLa-S3:Max,HSMM:H3K27ac,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,CD4:H3K4me1,NHEK:H3K36me3,HMEC:H3K4me1,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,RCV000081435.1,,0.2423,0.3199,0.2187,0.20,0.18,0.22,,,,,,,,,,,,,,,,
missense_variant,EBNA1BP2,MISSENSE,NM_001159936.1:p.Arg278His/c.833G>A,cGc/cAc,MODERATE,,0.141374,0,rs7163,0.13(T),"0.357,0.357(B,B)",1.15(L),-1.0669(T),,chr1,43632536,43632536,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg278His/c.833G>A|361|EBNA1BP2|protein_coding|CODING|NM_001159936.1|8|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg223His/c.668G>A|306|EBNA1BP2|protein_coding|CODING|NM_006824.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1442,0.1513,0.2883,0.21,0.12,0.26,,0.255952(N),1.000(P),"0.94,0.94(T,T)",0.0000(T),0.072,1.005915,5.77,-1.47,-1.219000,-0.204000,0.097000,0.006000,0.000000,0.000000,1.3749
synonymous_variant,EBNA1BP2,SILENT,NM_001159936.1:p.Thr185Thr/c.555G>C,acG/acC,LOW,,0.140775,0,rs1049276,,,,,,chr1,43636484,43636484,C,G,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr185Thr/c.555G>C|361|EBNA1BP2|protein_coding|CODING|NM_001159936.1|5|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr130Thr/c.390G>C|306|EBNA1BP2|protein_coding|CODING|NM_006824.2|4|1),upstream_gene_variant(MODIFIER||1517||698|WDR65|protein_coding|CODING|NM_001167965.1||1),upstream_gene_variant(MODIFIER||1517||1283|WDR65|protein_coding|CODING|NM_001195831.2||1),upstream_gene_variant(MODIFIER||1517||698|WDR65|protein_coding|CODING|NM_152498.3||1),downstream_gene_variant(MODIFIER||839|||MIR6733||NON_CODING|NR_106791.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1442,0.1513,0.2883,0.21,0.12,0.26,,,,,,,,,,,,,,,,
synonymous_variant,WDR65,SILENT,NM_001195831.2:p.Val11Val/c.33T>A,gtT/gtA,LOW,,0.142372,0,rs1782387,,,,,,chr1,43638457,43638457,T,A,het,"synonymous_variant(LOW|SILENT|gtT/gtA|p.Val11Val/c.33T>A|1283|WDR65|protein_coding|CODING|NM_001195831.2|2|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val11Val/c.33T>A|698|WDR65|protein_coding|CODING|NM_152498.3|2|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val11Val/c.33T>A|698|WDR65|protein_coding|CODING|NM_001167965.1|2|1),upstream_gene_variant(MODIFIER||1074|||MIR6733||NON_CODING|NR_106791.1||1),upstream_gene_variant(MODIFIER||471||306|EBNA1BP2|protein_coding|CODING|NM_006824.2||1),upstream_gene_variant(MODIFIER||216||361|EBNA1BP2|protein_coding|CODING|NM_001159936.1||1)","K562:Max,HeLa-S3:DNase1,HUVEC:Max,HeLa-S3:Max,CD4:DNase1,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,K562:E2F6,HepG2:DNase1,HMEC:DNase1,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1,K562:E2F4,HeLa-S3:E2F6",,,,0.1462,0.1513,0.2903,0.21,0.12,0.26,,,,,,,,,,,,,,,,
missense_variant,WDR65,MISSENSE,NM_001195831.2:p.Asn241Asp/c.721A>G,Aat/Gat,MODERATE,COSM3751212(5),0.520168,0.3194,rs663824,0.64(T),"0.0,0.001(B,B)",0(N),-1.0470(T),,chr1,43649508,43649508,A,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn241Asp/c.721A>G|698|WDR65|protein_coding|CODING|NM_001167965.1|4|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn241Asp/c.721A>G|1283|WDR65|protein_coding|CODING|NM_001195831.2|4|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn241Asp/c.721A>G|698|WDR65|protein_coding|CODING|NM_152498.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.407,0.5101,0.4135,0.52,0.76,0.40,,0.268470(N),1.000(P),"3.31,3.31(T,T)",0.0000(T),0.058,0.200278,6.07,-3.6,-2.537000,-1.005000,0.639000,0.000000,0.000000,0.000000,2.8833
synonymous_variant,WDR65,SILENT,NM_001195831.2:p.His443His/c.1329C>T,caC/caT,LOW,COSM3751213(1),0.202077,0.002,rs386601165,,,,,,chr1,43664218,43664218,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His443His/c.1329C>T|698|WDR65|protein_coding|CODING|NM_001167965.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His443His/c.1329C>T|1283|WDR65|protein_coding|CODING|NM_001195831.2|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His443His/c.1329C>T|698|WDR65|protein_coding|CODING|NM_152498.3|8|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.1748,0.2089,0.3181,0.27,0.25,0.29,,,,,,,,,,,,,,,,
synonymous_variant,WDR65,SILENT,NM_001195831.2:p.Ser603Ser/c.1809G>A,tcG/tcA,LOW,,0.694888,0.6786,rs2453412,,,,,,chr1,43675467,43675467,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser603Ser/c.1809G>A|1283|WDR65|protein_coding|CODING|NM_001195831.2|11|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser603Ser/c.1809G>A|698|WDR65|protein_coding|CODING|NM_001167965.1|11|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser603Ser/c.1809G>A|698|WDR65|protein_coding|CODING|NM_152498.3|11|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7342,0.6772,0.8877,0.77,0.57,0.88,,,,,,,,,,,,,,,,
synonymous_variant,TIE1,SILENT,NM_005424.4:p.Ala778Ala/c.2334T>C,gcT/gcC,LOW,COSM4143980(2),0.803115,0.879,rs3120276,,,,,,chr1,43779564,43779564,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala733Ala/c.2199T>C|1093|TIE1|protein_coding|CODING|NM_001253357.1|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala778Ala/c.2334T>C|1138|TIE1|protein_coding|CODING|NM_005424.4|14|1)","HepG2:RXRA,HUVEC:H3K36me3,HepG2:FOXA2,HepG2:FOXA1,HepG2:H3K27me3",,,,0.9008,0.6427,0.6272,0.69,0.85,0.61,,,,,,,,,,,,,,,,
synonymous_variant,TIE1,SILENT,NM_005424.4:p.Leu991Leu/c.2973A>G,ctA/ctG,LOW,COSM4143981(1),0.225839,0.1478,rs1199039,,,,,,chr1,43784956,43784956,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu946Leu/c.2838A>G|1093|TIE1|protein_coding|CODING|NM_001253357.1|18|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu991Leu/c.2973A>G|1138|TIE1|protein_coding|CODING|NM_005424.4|18|1)","HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.1125,0.3631,0.3777,0.33,0.21,0.39,,,,,,,,,,,,,,,,
synonymous_variant,CDC20,SILENT,NM_001255.2:p.Tyr144Tyr/c.432T>C,taT/taC,LOW,COSM3997534(1),0.229034,0.1071,rs839763,,,,,,chr1,43825644,43825644,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr144Tyr/c.432T>C|499|CDC20|protein_coding|CODING|NM_001255.2|5|1),"NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:H3K79me2,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2",,,,0.091,0.3674,0.3708,0.35,0.28,0.38,,,,,,,,,,,,,,,,
missense_variant,SZT2,MISSENSE,NM_015284.3:p.Pro446Ser/c.1336C>T,Ccc/Tcc,MODERATE,COSM4143983(1),0.198083,0.0823,rs2782643,,,,,,chr1,43886494,43886494,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro446Ser/c.1336C>T|3375|SZT2|protein_coding|CODING|NM_015284.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.093,0.379,0.4205,0.34,0.15,0.42,,,,,,,,,,,,,,,,
synonymous_variant,SZT2,SILENT,NM_015284.3:p.Glu2395Glu/c.7185A>G,gaA/gaG,LOW,COSM3751218(1),0.196286,0.0823,rs2027130,,,,,,chr1,43906896,43906896,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu2395Glu/c.7185A>G|3375|SZT2|protein_coding|CODING|NM_015284.3|52|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0951,0.3847,0.4205,0.32,0.13,0.41,,,,,,,,,,,,,,,,
synonymous_variant,HYI,SILENT,NM_001190880.2:p.Asp158Asp/c.474C>T,gaC/gaT,LOW,COSM3751221(2),0.223043,0.0784,rs2251802,,,,-0.9226(T),,chr1,43917637,43917637,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp158Asp/c.474C>T|277|HYI|protein_coding|CODING|NM_001190880.2|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp183Asp/c.549C>T|272|HYI|protein_coding|CODING|NM_001243526.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp158Asp/c.474C>T|247|HYI|protein_coding|CODING|NM_031207.5|4|1),3_prime_UTR_variant(MODIFIER||1486|c.*1486G>A|3375|SZT2|protein_coding|CODING|NM_015284.3|71|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0971,0.389,0.4215,0.35,0.23,0.41,,,0.000(P),,0.0000(T),.,1.105568,5.38,2.46,0.462000,0.334000,0.684000,0.987000,0.996000,1.000000,4.5099
missense_variant,HYI,MISSENSE,NM_001190880.2:p.Ser18Pro/c.52T>C,Tcc/Ccc,MODERATE,COSM4143989(2),0.595847,0.5089,rs6692611,,0.001(B),-0.865(N),-1.0028(T),,chr1,43919413,43919413,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser18Pro/c.52T>C|277|HYI|protein_coding|CODING|NM_001190880.2|1|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser18Pro/c.52T>C|272|HYI|protein_coding|CODING|NM_001243526.1|1|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser18Pro/c.52T>C|247|HYI|protein_coding|CODING|NM_031207.5|1|1),3_prime_UTR_variant(MODIFIER||3262|c.*3262A>G|3375|SZT2|protein_coding|CODING|NM_015284.3|71|1)","HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Ap2gamma,CD4:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HeLa-S3:E2F1,GM06990:H3K36me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.4714,0.647,0.6362,,,,,0.001960(N),0.000(P),"1.24,1.21,1.25(T,T,T)",0.0000(T),0.087,-0.897900,4.29,0.0865,-0.684000,-0.117000,0.489000,0.181000,0.084000,0.988000,5.6324
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Ala157Ala/c.471C>T,gcC/gcT,LOW,COSM3751223(1),0.222045,0.2917,rs1065771,,,,,,chr1,44035352,44035352,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala157Ala/c.471C>T|1907|PTPRF|protein_coding|CODING|NM_002840.3|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala157Ala/c.471C>T|1898|PTPRF|protein_coding|CODING|NM_130440.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.3016,0.2363,0.3101,0.23,0.08,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Ala602Ala/c.1806C>A,gcC/gcA,LOW,COSM3751224(3),0.446486,0.5585,rs3828151,,,,-0.8956(T),,chr1,44058265,44058265,C,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala602Ala/c.1806C>A|1907|PTPRF|protein_coding|CODING|NM_002840.3|11|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala602Ala/c.1806C>A|1898|PTPRF|protein_coding|CODING|NM_130440.2|11|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:Znf263,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4611,0.317,0.3966,0.42,0.46,0.40,,,0.000(P),,0.0000(T),.,1.073889,4.49,1.93,-0.363000,0.311000,-1.256000,0.899000,1.000000,0.005000,8.3188
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Val1137Val/c.3411G>A,gtG/gtA,LOW,,0.602436,0.7579,rs631248,,,,-1.0045(T),,chr1,44071221,44071221,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1137Val/c.3411G>A|1907|PTPRF|protein_coding|CODING|NM_002840.3|19|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1128Val/c.3384G>A|1898|PTPRF|protein_coding|CODING|NM_130440.2|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5798,0.5418,0.7376,0.67,0.47,0.77,,,0.000(P),,0.0000(T),.,1.126943,5.18,0.259,-1.170000,0.169000,0.308000,0.930000,1.000000,0.976000,8.2819
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Thr1197Thr/c.3591C>T,acC/acT,LOW,COSM3751227(2),0.278155,0.4702,rs1065772,,,,-0.9295(T),,chr1,44072018,44072018,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1197Thr/c.3591C>T|1907|PTPRF|protein_coding|CODING|NM_002840.3|20|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1188Thr/c.3564C>T|1898|PTPRF|protein_coding|CODING|NM_130440.2|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3323,0.268,0.3569,0.26,0.09,0.35,,,0.000(P),,0.0000(T),.,-0.763508,5.2,1.07,-1.083000,0.023000,0.196000,0.030000,0.996000,0.268000,5.306
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Pro1213Pro/c.3639C>T,ccC/ccT,LOW,COSM3751229(1),0.28115,0.4702,rs10890266,0.08(T),,,-0.9629(T),,chr1,44072066,44072066,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1213Pro/c.3639C>T|1907|PTPRF|protein_coding|CODING|NM_002840.3|20|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1204Pro/c.3612C>T|1898|PTPRF|protein_coding|CODING|NM_130440.2|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3436,0.2752,0.3648,0.27,0.09,0.36,,0.004350(N),0.000(P),1.8(T),0.0000(T),.,1.131657,5.2,-0.529,0.561000,0.019000,-1.265000,0.993000,0.998000,0.007000,1.5715
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Gly1432Gly/c.4296T>C,ggT/ggC,LOW,,0.73722,0.7649,rs641365,,,,-1.0957(T),,chr1,44083507,44083507,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1432Gly/c.4296T>C|1907|PTPRF|protein_coding|CODING|NM_002840.3|25|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1423Gly/c.4269T>C|1898|PTPRF|protein_coding|CODING|NM_130440.2|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5634,0.5764,0.7157,0.81,0.92,0.75,,,0.000(P),,0.0000(T),.,1.097554,5.58,-7.06,-0.766000,-1.781000,-4.012000,0.909000,0.565000,0.000000,13.3978
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Arg1436Arg/c.4308G>A,agG/agA,LOW,,0.73722,0.7649,rs641351,,,,-1.0398(T),,chr1,44083519,44083519,G,A,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg1436Arg/c.4308G>A|1907|PTPRF|protein_coding|CODING|NM_002840.3|25|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg1427Arg/c.4281G>A|1898|PTPRF|protein_coding|CODING|NM_130440.2|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5634,0.5764,0.7157,0.81,0.92,0.75,,,0.000(P),,0.0000(T),.,1.260861,5.58,2.32,-0.834000,0.384000,1.439000,0.907000,1.000000,1.000000,9.1101
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Arg1504Arg/c.4512C>T,cgC/cgT,LOW,,0.73742,0.7649,rs1143701,,,,-0.9579(T),,chr1,44084739,44084739,C,T,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1504Arg/c.4512C>T|1907|PTPRF|protein_coding|CODING|NM_002840.3|27|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1495Arg/c.4485C>T|1898|PTPRF|protein_coding|CODING|NM_130440.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5634,0.5764,0.7167,0.81,0.92,0.75,,,0.000(P),,0.0000(T),.,0.609324,5.34,0.888,-1.214000,-0.265000,0.863000,0.942000,0.994000,1.000000,3.3878
synonymous_variant,PTPRF,SILENT,NM_002840.3:p.Tyr1861Tyr/c.5583C>T,taC/taT,LOW,COSM3773501(1),0.570487,0.6855,rs1143702,,,,,,chr1,44086831,44086831,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1861Tyr/c.5583C>T|1907|PTPRF|protein_coding|CODING|NM_002840.3|33|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1852Tyr/c.5556C>T|1898|PTPRF|protein_coding|CODING|NM_130440.2|32|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4519,0.5014,0.6441,0.64,0.58,0.67,,,0.000(P),,,.,0.682443,4.76,-9.52,-2.203000,-2.452000,-2.838000,0.932000,0.150000,0.000000,15.3071
missense_variant,KDM4A,MISSENSE,NM_014663.2:p.Ala482Glu/c.1445C>A,gCa/gAa,MODERATE,COSM4143992(1),0.740216,0.7946,rs586339,1(T),0.0(B),-1.78(N),-0.9691(T),,chr1,44137257,44137257,C,A,hom,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala482Glu/c.1445C>A|1064|KDM4A|protein_coding|CODING|NM_014663.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:E2F4",,,,0.5706,0.5591,0.7028,0.79,0.92,0.73,,0.615303(N),1.000(P),2.59(T),0.0000(T),0.091,0.037878,5.48,4.34,-0.264000,0.437000,2.658000,0.830000,0.763000,0.995000,11.697
missense_variant,ARTN,MISSENSE,NM_001136215.1:p.Gln19Arg/c.56A>G,cAg/cGg,MODERATE,COSM4143993(1),0.836861,0.8254,rs2242637,0.98(T),"0.001,0.0(B,B)",-0.345(N),-0.9630(T),,chr1,44401384,44401384,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln19Arg/c.56A>G|228|ARTN|protein_coding|CODING|NM_001136215.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln19Arg/c.56A>G|228|ARTN|protein_coding|CODING|NM_057090.2|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln19Arg/c.56A>G|220|ARTN|protein_coding|CODING|NM_057091.2|3|1)","NHEK:H3K9ac,HepG2:H3K4me2,NHEK:H3K4me3,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,HMEC:DNase1,NHEK:DNase1,HMEC:H3K4me3",,,,0.8814,0.8732,0.9115,0.87,0.77,0.92,,,1.000(P),"-1.61,-1.54,0.92,0.92,-1.54,0.9,0.89,0.89,0.9,-1.61(D,D,T,T,D,T,T,T,T,D)",0.0000(T),0.223,0.525045,3.77,1.91,-0.119000,0.221000,0.130000,0.617000,0.058000,0.970000,5.8006
synonymous_variant,IPO13,SILENT,NM_014652.3:p.Asp137Asp/c.411C>T,gaC/gaT,LOW,COSM3751231(2),0.505192,0.6161,rs2240447,,,,,,chr1,44415415,44415415,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp137Asp/c.411C>T|963|IPO13|protein_coding|CODING|NM_014652.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.6167,0.7634,0.59,0.20,0.79,,,,,,,,,,,,,,,,
synonymous_variant,B4GALT2,SILENT,NM_030587.2:p.Ile332Ile/c.996C>T,atC/atT,LOW,COSM146491(3),0.0934505,0.1528,rs1061781,,,,,,chr1,44451234,44451234,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile303Ile/c.909C>T|372|B4GALT2|protein_coding|CODING|NM_001005417.2|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile303Ile/c.909C>T|372|B4GALT2|protein_coding|CODING|NM_003780.4|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile332Ile/c.996C>T|401|B4GALT2|protein_coding|CODING|NM_030587.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.0778,0.1004,0.09,0.06,0.10,,,,,,,,,,,,,,,,
synonymous_variant,C1orf228,SILENT,NM_001145636.1:p.His177His/c.531C>T,caC/caT,LOW,,0.00379393,0.004,rs76132381,,,,-0.6640(T),,chr1,45166683,45166683,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His177His/c.531C>T|440|C1orf228|protein_coding|CODING|NM_001145636.1|5|1),"HepG2:H3K4me2,HepG2:H3K4me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.002,0.0029,0.0109,0.01,0.00,0.02,,,1.000(D),,0.1477(T),.,1.058756,6.11,-4.51,-0.290000,-0.468000,-1.651000,0.990000,0.980000,0.005000,15.2914
synonymous_variant,KIF2C,SILENT,NM_006845.3:p.Arg177Arg/c.531A>T,cgA/cgT,LOW,COSM3751239(1),0.286542,0.2857,rs3795713,,,,,,chr1,45218895,45218895,A,T,het,"synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg123Arg/c.369A>T|671|KIF2C|protein_coding|CODING|NM_001297656.1|5|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg64Arg/c.192A>T|612|KIF2C|protein_coding|CODING|NM_001297657.1|5|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg177Arg/c.531A>T|725|KIF2C|protein_coding|CODING|NM_006845.3|6|1),intron_variant(MODIFIER|||c.440-510A>T|684|KIF2C|protein_coding|CODING|NM_001297655.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.181,0.2781,0.1392,0.26,0.45,0.17,,,,,,,,,,,,,,,,
missense_variant,KIF2C,MISSENSE,NM_006845.3:p.Ile449Leu/c.1345A>C,Atc/Ctc,MODERATE,COSM3735969(1),0.203075,0.2857,rs4342887,0.02(D),"0.155,0.044,0.239(B,B,B)",0.335(N),-1.0424(T),,chr1,45224998,45224998,A,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile408Leu/c.1222A>C|684|KIF2C|protein_coding|CODING|NM_001297655.1|13|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile395Leu/c.1183A>C|671|KIF2C|protein_coding|CODING|NM_001297656.1|13|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile336Leu/c.1006A>C|612|KIF2C|protein_coding|CODING|NM_001297657.1|13|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile449Leu/c.1345A>C|725|KIF2C|protein_coding|CODING|NM_006845.3|14|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.181,0.2507,0.1382,0.18,0.19,0.17,,0.000140(N),0.000(P),"-0.54,-0.54,-0.54,-0.54(T,T,T,T)",0.0000(T),0.702,3.603032,5.87,4.72,0.533000,1.017000,5.178000,0.668000,1.000000,1.000000,13.045
synonymous_variant,KIF2C,SILENT,NM_006845.3:p.Ala500Ala/c.1500G>A,gcG/gcA,LOW,COSM4144010(1),0.190695,0.2857,rs1140279,,,,,,chr1,45226084,45226084,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala459Ala/c.1377G>A|684|KIF2C|protein_coding|CODING|NM_001297655.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala446Ala/c.1338G>A|671|KIF2C|protein_coding|CODING|NM_001297656.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala387Ala/c.1161G>A|612|KIF2C|protein_coding|CODING|NM_001297657.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala500Ala/c.1500G>A|725|KIF2C|protein_coding|CODING|NM_006845.3|15|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.181,0.2464,0.1382,0.16,0.14,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PLK3,SILENT,NM_004073.2:p.Pro452Pro/c.1356G>C,ccG/ccC,LOW,COSM4144013(1),0.191893,0.2857,rs11211036,,,,,,chr1,45270024,45270024,G,C,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro452Pro/c.1356G>C|646|PLK3|protein_coding|CODING|NM_004073.2|12|1),downstream_gene_variant(MODIFIER||1562||221|TCTEX1D4|protein_coding|CODING|NM_001013632.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.1748,0.245,0.1402,0.16,0.14,0.17,,,,,,,,,,,,,,,,
synonymous_variant,TCTEX1D4,SILENT,NM_001013632.2:p.Asp143Asp/c.429C>T,gaC/gaT,LOW,COSM3749057(3),0.176118,0.2847,rs17886118,,,,,,chr1,45271912,45271912,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp143Asp/c.429C>T|221|TCTEX1D4|protein_coding|CODING|NM_001013632.2|2|1),downstream_gene_variant(MODIFIER||245||646|PLK3|protein_coding|CODING|NM_004073.2||1)","H1ESC:H3K36me3,K562:PolII,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.1759,0.2421,0.1412,0.12,0.08,0.14,,,,,,,,,,,,,,,,
synonymous_variant,PTCH2,SILENT,NM_003738.4:p.Ala685Ala/c.2055T>C,gcT/gcC,LOW,COSM3751244(3),0.445487,0.4911,rs7525308,,,,,,chr1,45293518,45293518,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala685Ala/c.2055T>C|1146|PTCH2|protein_coding|CODING|NM_001166292.1|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala685Ala/c.2055T>C|1203|PTCH2|protein_coding|CODING|NM_003738.4|14|1)","HepG2:H3K4me2,HepG2:H3K27me3",,,,0.32,0.4409,0.3191,0.42,0.58,0.34,,,,,,,,,,,,,,,,
synonymous_variant,PTCH2,SILENT,NM_003738.4:p.Glu607Glu/c.1821A>G,gaA/gaG,LOW,,0.21266,0.2897,rs2295997,,,,,,chr1,45293752,45293752,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu607Glu/c.1821A>G|1146|PTCH2|protein_coding|CODING|NM_001166292.1|14|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu607Glu/c.1821A>G|1203|PTCH2|protein_coding|CODING|NM_003738.4|14|1)",,,,,0.1748,0.2522,0.1412,0.18,0.20,0.17,,,,,,,,,,,,,,,,
synonymous_variant,EIF2B3,SILENT,NM_020365.4:p.Asp81Asp/c.243C>T,gaC/gaT,LOW,,0.296526,0.2758,rs11556200,,,,,,chr1,45444038,45444038,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp81Asp/c.243C>T|412|EIF2B3|protein_coding|CODING|NM_001166588.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp81Asp/c.243C>T|401|EIF2B3|protein_coding|CODING|NM_001261418.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp81Asp/c.243C>T|452|EIF2B3|protein_coding|CODING|NM_020365.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081999.3,,0.181,0.4265,0.1998,0.28,0.39,0.23,,,,,,,,,,,,,,,,
synonymous_variant,HECTD3,SILENT,NM_024602.5:p.Pro858Pro/c.2574T>A,ccT/ccA,LOW,COSM3751245(1),0.0515176,0.001,rs12749251,,,,,,chr1,45469176,45469176,A,T,het,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro858Pro/c.2574T>A|861|HECTD3|protein_coding|CODING|NM_024602.5|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0685,0.0591,0.1123,0.11,0.05,0.15,,,,,,,,,,,,,,,,
synonymous_variant,HECTD3,SILENT,NM_024602.5:p.Leu89Leu/c.267C>T,ctC/ctT,LOW,COSM4144021(1),0.251198,0.2897,rs2298005,,,,,,chr1,45476663,45476663,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu89Leu/c.267C>T|861|HECTD3|protein_coding|CODING|NM_024602.5|1|1),upstream_gene_variant(MODIFIER||1142||367|UROD|protein_coding|CODING|NM_000374.4||1),upstream_gene_variant(MODIFIER||1142|||UROD||CODING|NR_036510.1||1)","NHEK:H3K9ac,K562:H3K4me3,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,K562:E2F6,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.2434,0.4107,0.2127,0.18,0.14,0.19,,,,,,,,,,,,,,,,
synonymous_variant,ZSWIM5,SILENT,NM_020883.1:p.Thr594Thr/c.1782C>G,acC/acG,LOW,COSM3751251(1),0.510383,0.4544,rs7551698,,,,,,chr1,45504720,45504720,G,C,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr594Thr/c.1782C>G|1185|ZSWIM5|protein_coding|CODING|NM_020883.1|8|1),"K562:Max,K562:PolII,K562:H3K4me1,K562:Gata1,K562:Cmyc,K562:Gata2,HepG2:H3K36me3,K562:DNase1",,,,0.6871,0.4337,0.6183,0.53,0.40,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ZSWIM5,SILENT,NM_020883.1:p.Ala19Ala/c.57T>C,gcT/gcC,LOW,COSM3749058(7),0.283546,0.1369,rs4454584,,,,,,chr1,45671966,45671966,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala19Ala/c.57T>C|1185|ZSWIM5|protein_coding|CODING|NM_020883.1|1|1),"H1ESC:PolII,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HMEC:H3K27me3,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,IMR90:H3K27me3,HepG2:H3K9ac,CD4:PolII,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.1278,0.2147,0.2634,0.32,0.47,0.25,,,,,,,,,,,,,,,,
synonymous_variant,GPBP1L1,SILENT,NM_021639.4:p.Ser442Ser/c.1326T>C,agT/agC,LOW,COSM146499(2),0.322484,0.3472,rs1250,,,,,,chr1,46094027,46094027,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser442Ser/c.1326T>C|474|GPBP1L1|protein_coding|CODING|NM_021639.4|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3998,0.3458,0.2823,0.28,0.25,0.29,,,,,,,,,,,,,,,,
synonymous_variant,GPBP1L1,SILENT,NM_021639.4:p.Lys416Lys/c.1248A>G,aaA/aaG,LOW,,0.319089,0.3165,rs1135812,,,,,,chr1,46095272,46095272,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys416Lys/c.1248A>G|474|GPBP1L1|protein_coding|CODING|NM_021639.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.409,0.3473,0.2833,0.28,0.25,0.30,,,,,,,,,,,,,,,,
missense_variant,IPP,MISSENSE,NM_005897.2:p.Lys264Arg/c.791A>G,aAa/aGa,MODERATE,COSM146501(2),0.314896,0.3135,rs28375469,0.04(D),"0.002,0.005(B,B)",0(N),-1.0890(T),,chr1,46195375,46195375,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys264Arg/c.791A>G|582|IPP|protein_coding|CODING|NM_001145349.1|4|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys264Arg/c.791A>G|584|IPP|protein_coding|CODING|NM_005897.2|4|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4131,0.3473,0.2833,0.28,0.25,0.30,,0.000068(D),0.000(P),"-0.63,-0.81(T,T)",0.0000(T),0.205,3.121918,5.81,5.81,0.459000,2.226000,7.623000,0.629000,0.994000,1.000000,16.1671
missense_variant,MAST2,MISSENSE,NM_015112.2:p.Asp388Glu/c.1164T>G,gaT/gaG,MODERATE,COSM1343092(1),0.874401,0.9841,rs11211247,1(T),"0.002,0.0(B,B)",-1.28(N),-0.9821(T),,chr1,46476587,46476587,T,G,hom,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp388Glu/c.1164T>G|1798|MAST2|protein_coding|CODING|NM_015112.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.863,0.8674,0.7177,0.79,0.89,0.74,,0.000001(N),0.000(P),"1.87,1.87(T,T)",0.0000(T),0.107,-0.310747,5.6,2.69,-0.999000,0.330000,1.326000,0.481000,1.000000,1.000000,5.815
missense_variant,POMGNT1,MISSENSE,NM_001243766.1:p.Met623Val/c.1867A>G,Atg/Gtg,MODERATE,,0.942492,1,rs6659553,1(T),"0.0,0.0,0.0(B,B,B)",-2.015(N),-0.9256(T),,chr1,46655158,46655158,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met601Val/c.1801A>G|638|POMGNT1|protein_coding|CODING|NM_001290129.1|20|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met480Val/c.1438A>G|517|POMGNT1|protein_coding|CODING|NM_001290130.1|20|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met623Val/c.1867A>G|660|POMGNT1|protein_coding|CODING|NM_017739.3|21|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met623Val/c.1867A>G|748|POMGNT1|protein_coding|CODING|NM_001243766.1|21|1),splice_region_variant(LOW|||c.1867A>G|748|POMGNT1|protein_coding|CODING|NM_001243766.1|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.987,1,0.94,0.83,1.00,,0.000003(N),0.000(P),"-1.76,-1.76,-1.76,-1.76(D,D,D,D)",0.0000(T),0.43,0.836895,5.92,5.92,-0.119000,1.519000,5.756000,0.983000,1.000000,1.000000,15.0282
missense_variant,POMGNT1,MISSENSE,NM_001243766.1:p.Asp556Asn/c.1666G>A,Gac/Aac,MODERATE,,0.00519169,0,rs74374973,0.12(T),"0.895,0.896,0.824,0.913(P,P,P,D)",1.63(L),0.0089(D),,chr1,46655645,46655645,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp556Asn/c.1666G>A|748|POMGNT1|protein_coding|CODING|NM_001243766.1|20|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp534Asn/c.1600G>A|638|POMGNT1|protein_coding|CODING|NM_001290129.1|19|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp413Asn/c.1237G>A|517|POMGNT1|protein_coding|CODING|NM_001290130.1|19|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp556Asn/c.1666G>A|660|POMGNT1|protein_coding|CODING|NM_017739.3|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000004204.1|RCV000081801.3,,0,0.0101,0.0179,0.01,0.00,0.01,,0.000000(D),1.000(A),"-1.59,-1.59,-1.59,-1.59(D,D,D,D)",0.4834(T),0.221,5.604935,6.06,6.06,0.655000,2.882000,5.757000,0.996000,1.000000,1.000000,20.6208
synonymous_variant,POMGNT1,SILENT,NM_001243766.1:p.Lys227Lys/c.681A>G,aaA/aaG,LOW,COSM3751255(1),0.333466,0.1726,rs2292487,0.17(T),,,-1.0014(T),,chr1,46660295,46660295,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys227Lys/c.681A>G|748|POMGNT1|protein_coding|CODING|NM_001243766.1|8|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys205Lys/c.615A>G|638|POMGNT1|protein_coding|CODING|NM_001290129.1|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys84Lys/c.252A>G|517|POMGNT1|protein_coding|CODING|NM_001290130.1|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys227Lys/c.681A>G|660|POMGNT1|protein_coding|CODING|NM_017739.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081805.3,,0.4315,0.3963,0.3549,0.35,0.35,0.35,,,0.000(P),,0.0000(T),.,1.828845,5.93,3.73,-0.215000,0.844000,0.575000,0.985000,1.000000,0.998000,10.3327
missense_variant,NSUN4,MISSENSE,NM_199044.3:p.Leu18Phe/c.52C>T,Ctc/Ttc,MODERATE,COSM3773506(2),0.127196,0.0179,rs41293277,0.78(T),0.0(B),0(N),-0.9202(T),,chr1,46806550,46806550,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu18Phe/c.52C>T|384|NSUN4|protein_coding|CODING|NM_199044.3|1|1),upstream_gene_variant(MODIFIER||300||335|NSUN4|protein_coding|CODING|NM_001256127.1||1),upstream_gene_variant(MODIFIER||300||335|NSUN4|protein_coding|CODING|NM_001256128.1||1),non_coding_exon_variant(MODIFIER|||n.702C>T||NSUN4||CODING|NR_045789.1|1|1),non_coding_exon_variant(MODIFIER|||n.702C>T||NSUN4||CODING|NR_045790.1|1|1),non_coding_exon_variant(MODIFIER|||n.702C>T||NSUN4||CODING|NR_045791.1|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,CD4:H4K5ac,HepG2:CTCF,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,IMR90:H4K8ac,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.0879,0.147,0.2773,0.24,0.14,0.29,,0.414936(N),0.999(P),2.46(T),0.0000(T),0.021,0.291507,4.09,2.93,-0.490000,0.630000,0.284000,0.096000,0.105000,0.005000,4.8239
synonymous_variant,NSUN4,SILENT,NM_199044.3:p.Asp97Asp/c.291T>C,gaT/gaC,LOW,COSM4144040(1),0.131789,0.0179,rs17361763,,,,,,chr1,46810670,46810670,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp48Asp/c.144T>C|335|NSUN4|protein_coding|CODING|NM_001256127.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp48Asp/c.144T>C|335|NSUN4|protein_coding|CODING|NM_001256128.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp97Asp/c.291T>C|384|NSUN4|protein_coding|CODING|NM_199044.3|2|1),intron_variant(MODIFIER|||n.905+36T>C||NSUN4||CODING|NR_045791.1|2|1),non_coding_exon_variant(MODIFIER|||n.1116T>C||NSUN4||CODING|NR_045789.1|3|1),non_coding_exon_variant(MODIFIER|||n.941T>C||NSUN4||CODING|NR_045790.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.092,0.147,0.2724,0.24,0.15,0.29,,,,,,,,,,,,,,,,
synonymous_variant,NSUN4,SILENT,NM_199044.3:p.Pro374Pro/c.1122C>T,ccC/ccT,LOW,COSM4144041(1),,,rs1053624,,,,,,chr1,46827485,46827485,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro325Pro/c.975C>T|335|NSUN4|protein_coding|CODING|NM_001256127.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro325Pro/c.975C>T|335|NSUN4|protein_coding|CODING|NM_001256128.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro374Pro/c.1122C>T|384|NSUN4|protein_coding|CODING|NM_199044.3|6|1),non_coding_exon_variant(MODIFIER|||n.1947C>T||NSUN4||CODING|NR_045789.1|7|1),non_coding_exon_variant(MODIFIER|||n.1617C>T||NSUN4||CODING|NR_045790.1|5|1),non_coding_exon_variant(MODIFIER|||n.1435C>T||NSUN4||CODING|NR_045791.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.24,0.15,0.29,,,,,,,,,,,,,,,,
missense_variant,FAAH,MISSENSE,NM_001441.2:p.Pro129Thr/c.385C>A,Cca/Aca,MODERATE,,0.261581,0.1756,rs324420,0.48(T),0.018(B),0.55(N),-0.9638(T),,chr1,46870761,46870761,C,A,het,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro129Thr/c.385C>A|579|FAAH|protein_coding|CODING|NM_001441.2|3|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,RCV000007116.2,,0.1953,0.3516,0.2107,0.25,0.35,0.20,,0.067550(N),1.000(P),0.61(T),0.0000(T),0.202,-0.024929,5.17,3.08,0.313000,2.417000,0.726000,0.407000,0.395000,0.001000,7.2179
synonymous_variant,FAAH,SILENT,NM_001441.2:p.Cys299Cys/c.897T>C,tgT/tgC,LOW,COSM3746989(2),0.884385,0.995,rs324419,,,,,,chr1,46871986,46871986,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys299Cys/c.897T>C|579|FAAH|protein_coding|CODING|NM_001441.2|7|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:DNase1,K562:DNase1,GM06990:CTCF",,,,0.8088,0.9265,0.8519,0.84,0.85,0.84,,,,,,,,,,,,,,,,
synonymous_variant,DMBX1,SILENT,NM_147192.2:p.Pro193Pro/c.579C>T,ccC/ccT,LOW,COSM4144043(1),0.176717,0.0109,rs1886116,,,,,,chr1,46976837,46976837,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro193Pro/c.579C>T|382|DMBX1|protein_coding|CODING|NM_147192.2|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro188Pro/c.564C>T|377|DMBX1|protein_coding|CODING|NM_172225.1|3|1)","K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1902,0.3588,0.3986,0.32,0.09,0.44,,,,,,,,,,,,,,,,
missense_variant,KNCN,MISSENSE,NM_001097611.1:p.Pro93Ser/c.277C>T,Ccg/Tcg,MODERATE,,0.00179712,0,rs61735709,0.04(D),0.003(B),,-1.0195(T),,chr1,47013431,47013431,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro93Ser/c.277C>T|101|KNCN|protein_coding|CODING|NM_001097611.1|3|1),intron_variant(MODIFIER|||n.254+3991G>A||MKNK1-AS1||NON_CODING|NR_038403.1|3|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0,0.0014,0.008,0.01,0.00,0.01,,,0.963(N),,0.0478(T),0.146,2.168955,3.73,0.731,-0.314000,0.175000,1.216000,0.225000,0.975000,1.000000,2.4743
missense_variant,ATPAF1,MISSENSE,NM_022745.4:p.Ser85Gly/c.253A>G,Agc/Ggc,MODERATE,COSM3749059(4),0.834665,0.9345,rs11211337,0.39(T),"0.0,0.0(B,B)",0(N),-1.0489(T),,chr1,47133811,47133811,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser85Gly/c.253A>G|283|ATPAF1|protein_coding|CODING|NM_001042546.2|1|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser85Gly/c.253A>G|351|ATPAF1|protein_coding|CODING|NM_022745.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,H1ESC:Yy1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.7106,0.8818,0.7853,,,,,0.135495(N),1.000(P),0.99(T),0.0000(T),0.181,-1.122827,5.26,0.687,-2.752000,0.003000,-1.092000,0.127000,0.006000,0.001000,6.369
missense_variant,CYP4B1,MISSENSE,NM_001099772.1:p.Arg173Trp/c.517C>T,Cgg/Tgg,MODERATE,COSM3746991(1),0.184505,0.2123,rs4646487,0.01(D),"0.394,0.809,0.663,0.773(B,P,P,P)",1.32(L),-1.0980(T),,chr1,47279175,47279175,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg173Trp/c.517C>T|511|CYP4B1|protein_coding|CODING|NM_000779.3|5|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg173Trp/c.517C>T|512|CYP4B1|protein_coding|CODING|NM_001099772.1|5|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2301,0.1138,0.1372,0.15,0.19,0.13,,0.167299(N),1.000(P),"-0.37,-0.37,-0.37,-0.37,-0.37,-0.37(T,T,T,T,T,T)",0.0007(T),0.322,2.440188,5.21,0.775,0.591000,0.168000,0.723000,0.063000,0.237000,0.081000,5.2973
synonymous_variant,CYP4A11,SILENT,NM_000778.3:p.Ile458Ile/c.1374C>T,atC/atT,LOW,COSM3997566(1),0.571486,0.495,rs1126743,,,,,,chr1,47395973,47395973,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile458Ile/c.1374C>T|519|CYP4A11|protein_coding|CODING|NM_000778.3|12|1),"GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6656,0.683,0.7773,0.66,0.42,0.78,,,,,,,,,,,,,,,,
missense_variant,CYP4A11,MISSENSE,NM_000778.3:p.Phe434Ser/c.1301T>C,tTc/tCc,MODERATE,COSM3746992(3),0.241414,0.2579,rs1126742,0.66(T),0.002(B),-0.725(N),-1.0312(T),,chr1,47398496,47398496,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe434Ser/c.1301T>C|519|CYP4A11|protein_coding|CODING|NM_000778.3|11|1),GM06990:H3K27me3,,,,0.2607,0.1542,0.1451,0.18,0.29,0.13,,0.038125(N),1.000(P),"-0.24,-0.24,-0.24(T,T,T)",0.0000(T),0.069,-0.233838,5.11,0.315,-0.128000,0.032000,-0.066000,0.662000,0.053000,0.000000,5.1371
synonymous_variant,CYP4A11,SILENT,NM_000778.3:p.His323His/c.969C>T,caC/caT,LOW,COSM3746993(3),0.394169,0.504,rs28451040,,,,,,chr1,47399967,47399967,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His323His/c.969C>T|519|CYP4A11|protein_coding|CODING|NM_000778.3|8|1),,,,,0.3344,0.3112,0.2237,0.30,0.47,0.22,,,,,,,,,,,,,,,,
synonymous_variant,CYP4Z1,SILENT,NM_178134.2:p.Ile390Ile/c.1170C>T,atC/atT,LOW,COSM3746994(2),0.589657,0.9563,rs4926802,,,,,,chr1,47571902,47571902,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile390Ile/c.1170C>T|505|CYP4Z1|protein_coding|CODING|NM_178134.2|9|1),,,,,0.6595,0.4683,0.34,0.38,0.49,0.33,,,,,,,,,,,,,,,,
synonymous_variant,CYP4Z1,SILENT,NM_178134.2:p.Thr391Thr/c.1173C>T,acC/acT,LOW,COSM3746995(2),0.579473,0.9563,rs28463559,,,,,,chr1,47571905,47571905,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr391Thr/c.1173C>T|505|CYP4Z1|protein_coding|CODING|NM_178134.2|9|1),,,,,0.6585,0.4654,0.339,,,,,,,,,,,,,,,,,,,
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Arg126Trp/c.376C>T,Cgg/Tgg,MODERATE,COSM3746996(2),0.371206,0.6141,rs12564525,1(T),"0.0,0.0(B,B)",-3.465(N),-0.9029(T),,chr1,47607281,47607281,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg126Trp/c.376C>T|519|CYP4A22|protein_coding|CODING|NM_001010969.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.5481,0.2867,0.2058,0.22,0.25,0.21,,0.000000(N),1.000(P),"-0.27,-0.29,-0.29(T,T,T)",0.0000(T),0.154,-0.783423,1.66,1.66,-0.665000,0.117000,2.836000,0.155000,0.697000,1.000000,6.8608
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Gly130Ser/c.388G>A,Ggc/Agc,MODERATE,COSM3751258(1),0.336262,0.5546,rs2056900,0.01(D),"0.38,0.893(B,P)",2.875(M),-0.9242(T),,chr1,47607785,47607785,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly130Ser/c.388G>A|519|CYP4A22|protein_coding|CODING|NM_001010969.2|4|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.5072,0.232,0.1928,0.21,0.23,0.20,,0.000000(D),0.001(P),"-0.65,-0.65,-0.65(T,T,T)",0.0000(T),0.327,3.738385,1.7,0.679,0.195000,0.034000,3.218000,0.682000,0.118000,1.000000,8.2754
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Asn152Tyr/c.454A>T,Aat/Tat,MODERATE,COSM3746997(3),0.730831,0.9802,rs2056899,1(T),"0.0,0.0(B,B)",-2.85(N),-0.9648(T),,chr1,47607851,47607851,A,T,het,missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn152Tyr/c.454A>T|519|CYP4A22|protein_coding|CODING|NM_001010969.2|4|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.681,0.5072,0.4036,0.54,0.85,0.39,,0.000015(N),1.000(P),"-0.36,-0.36,-0.36(T,T,T)",0.0000(T),0.096,-2.066875,1.7,0.248,-1.247000,-0.032000,2.912000,0.243000,0.957000,0.997000,6.7756
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Val185Phe/c.553G>T,Gtc/Ttc,MODERATE,COSM3751259(1),0.335663,0.5536,rs113777592,0.03(D),"0.264,0.616(B,P)",1.955(M),-0.9704(T),,chr1,47608983,47608983,G,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val185Phe/c.553G>T|519|CYP4A22|protein_coding|CODING|NM_001010969.2|5|1),NHEK:H3K27me3,,,,0.5072,0.232,0.1928,0.21,0.23,0.20,,0.212985(N),0.999(P),"-0.45,-0.49,-0.49(T,T,T)",0.0000(T),0.247,2.104200,1.44,-1.89,0.194000,-0.551000,-1.183000,0.478000,0.002000,0.001000,5.0373
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Cys231Arg/c.691T>C,Tgt/Cgt,MODERATE,COSM3746998(1),0.580671,0.9335,rs10789501,1(T),0.0(B),-3.89(N),-0.9296(T),,chr1,47609489,47609489,T,C,het,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys231Arg/c.691T>C|519|CYP4A22|protein_coding|CODING|NM_001010969.2|6|1),"NHEK:CTCF,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,NHEK:H3K27me3,K562:Rad21,HepG2:CTCF,H1ESC:Rad21,H1ESC:CTCF",,,,0.6452,0.464,0.3489,0.39,0.50,0.34,,0.000000(N),0.918(P),"-0.17,-0.17(T,T)",0.0000(T),0.074,-2.442517,1.94,1.94,-1.033000,0.188000,0.053000,0.001000,0.002000,0.014000,3.8065
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Lys276Thr/c.827A>C,aAg/aCg,MODERATE,COSM4144053(1),0.141773,0.3075,rs149718343,0.09(T),0.001(B),0.855(L),-1.0386(T),,chr1,47610065,47610065,A,C,het,missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys276Thr/c.827A>C|519|CYP4A22|protein_coding|CODING|NM_001010969.2|7|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2413,0.1009,0.0775,0.07,0.03,0.09,,,1.000(P),-0.7(T),0.0000(T),0.162,1.339406,1.51,1.51,0.163000,0.702000,3.462000,0.690000,0.034000,0.208000,8.9843
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Leu428Pro/c.1283T>C,cTa/cCa,MODERATE,COSM3746999(2),0.375799,0.6141,rs2405599,1(T),"0.004,0.0(B,B)",-3.695(N),-0.9342(T),,chr1,47611598,47611598,T,C,het,missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu428Pro/c.1283T>C|519|CYP4A22|protein_coding|CODING|NM_001010969.2|10|1),"GM12878:H3K36me3,NHEK:H3K27me3",,,,0.5532,0.2896,0.2237,0.23,0.25,0.22,,0.000000(N),0.002(P),"1.64,1.64,1.64(T,T,T)",0.0000(T),0.173,-1.394920,1.59,0.642,-1.033000,-0.120000,3.694000,0.190000,0.722000,1.000000,5.7987
missense_variant,CYP4A22,MISSENSE,NM_001010969.2:p.Leu509Phe/c.1525C>T,Ctc/Ttc,MODERATE,COSM4144054(1),0.152556,0.3065,rs4926600,0.01(D),0.918(D),1.87(L),-1.0747(T),,chr1,47614434,47614434,C,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu509Phe/c.1525C>T|519|CYP4A22|protein_coding|CODING|NM_001010969.2|12|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2556,0.1023,0.0805,0.08,0.05,0.09,,0.018109(N),1.000(P),"-0.77,-0.58(T,T)",0.0000(T),0.031,2.596638,1.69,0.555,0.194000,0.011000,1.006000,0.443000,0.007000,0.846000,3.3575
synonymous_variant,TAL1,SILENT,NM_001287347.2:p.Lys311Lys/c.933A>G,aaA/aaG,LOW,COSM3751262(2),1,1,rs927462,,,,,,chr1,47685455,47685455,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys311Lys/c.933A>G|331|TAL1|protein_coding|CODING|NM_001287347.2|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys311Lys/c.933A>G|331|TAL1|protein_coding|CODING|NM_001290403.1|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys311Lys/c.933A>G|331|TAL1|protein_coding|CODING|NM_001290404.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys311Lys/c.933A>G|331|TAL1|protein_coding|CODING|NM_001290405.1|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys152Lys/c.456A>G|172|TAL1|protein_coding|CODING|NM_001290406.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys311Lys/c.933A>G|331|TAL1|protein_coding|CODING|NM_003189.5|6|1)","HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,STIL,SILENT,NM_001048166.1:p.Pro1162Pro/c.3486T>C,ccT/ccC,LOW,,0.393371,0.4296,rs2758735,,,,,,chr1,47717189,47717189,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1162Pro/c.3486T>C|1288|STIL|protein_coding|CODING|NM_001048166.1|17|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1161Pro/c.3483T>C|1287|STIL|protein_coding|CODING|NM_001282936.1|18|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1144Pro/c.3432T>C|1270|STIL|protein_coding|CODING|NM_001282937.1|18|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1115Pro/c.3345T>C|1241|STIL|protein_coding|CODING|NM_001282938.1|19|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1097Pro/c.3291T>C|1223|STIL|protein_coding|CODING|NM_001282939.1|19|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1161Pro/c.3483T>C|1287|STIL|protein_coding|CODING|NM_003035.2|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080044.1|RCV000128291.1,,0.5593,0.4078,0.5427,0.41,0.18,0.53,,,,,,,,,,,,,,,,
missense_variant,STIL,MISSENSE,NM_001048166.1:p.His985Arg/c.2954A>G,cAt/cGt,MODERATE,COSM4144058(1),0.178315,0.0298,rs13376679,0.4(T),"0.002,0.002,0.002(B,B,B)",1.79(L),-0.9404(T),,chr1,47726087,47726087,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His985Arg/c.2954A>G|1288|STIL|protein_coding|CODING|NM_001048166.1|16|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His984Arg/c.2951A>G|1287|STIL|protein_coding|CODING|NM_001282936.1|17|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His967Arg/c.2900A>G|1270|STIL|protein_coding|CODING|NM_001282937.1|17|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His938Arg/c.2813A>G|1241|STIL|protein_coding|CODING|NM_001282938.1|18|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His920Arg/c.2759A>G|1223|STIL|protein_coding|CODING|NM_001282939.1|18|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His984Arg/c.2951A>G|1287|STIL|protein_coding|CODING|NM_003035.2|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000080043.1,,0.184,0.2161,0.2893,0.28,0.22,0.32,,0.159754(N),1.000(P),"2.31,2.31,2.31,2.3,2.31(T,T,T,T,T)",0.0000(T),0.042,-0.901436,5.93,0.313,0.533000,0.118000,0.041000,0.066000,0.002000,0.001000,8.2989
missense_variant,STIL,MISSENSE,NM_001048166.1:p.Ala86Val/c.257C>T,gCa/gTa,MODERATE,,0.60643,0.5675,rs3125630,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.28(N),-0.9665(T),,chr1,47767914,47767914,G,A,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala86Val/c.257C>T|1288|STIL|protein_coding|CODING|NM_001048166.1|4|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala86Val/c.257C>T|1287|STIL|protein_coding|CODING|NM_001282936.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala86Val/c.257C>T|1270|STIL|protein_coding|CODING|NM_001282937.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala86Val/c.257C>T|1241|STIL|protein_coding|CODING|NM_001282938.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala86Val/c.257C>T|1223|STIL|protein_coding|CODING|NM_001282939.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala86Val/c.257C>T|1287|STIL|protein_coding|CODING|NM_003035.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000020526.1,,0.4407,0.5937,0.4553,0.59,0.82,0.48,,0.000005(N),1.000(P),"1.87,1.87,1.87,1.87,1.87,1.87,1.87(T,T,T,T,T,T,T)",0.0000(T),0.351,-0.118387,5.42,5.42,-0.556000,0.891000,5.182000,0.258000,1.000000,1.000000,10.1156
missense_variant,CMPK1,MISSENSE,NM_016308.2:p.Gly8Arg/c.22G>C,Ggg/Cgg,MODERATE,COSM4144059(1),0.596446,0.5843,rs7543016,0.7(T),"0.0,0.0(B,B)",0(N),-0.9519(T),,chr1,47799639,47799639,G,C,het,"missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly8Arg/c.22G>C|179|CMPK1|protein_coding|CODING|NM_001136140.1|1|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly8Arg/c.22G>C|228|CMPK1|protein_coding|CODING|NM_016308.2|1|1),non_coding_exon_variant(MODIFIER|||n.171G>C||CMPK1||CODING|NR_046394.1|1|1),non_coding_exon_variant(MODIFIER|||n.171G>C||CMPK1||CODING|NR_046395.1|1|1)","NHEK:H3K9ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.4458,0.5893,0.4602,0.57,0.76,0.47,,0.037956(N),1.000(P),"-0.75,0.15(T,T)",0.0000(T),0.038,-0.145854,4.8,2.91,-0.365000,0.238000,0.519000,0.001000,0.000000,0.000000,5.5177
synonymous_variant,FOXE3,SILENT,NM_012186.2:p.Ala170Ala/c.510C>T,gcC/gcT,LOW,COSM3751263(3),0.278554,0.2123,rs34082359,,,,,,chr1,47882497,47882497,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala170Ala/c.510C>T|319|FOXE3|protein_coding|CODING|NM_012186.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3589,0.2378,0.3569,0.31,0.25,0.34,,,,,,,,,,,,,,,,
missense_variant,FOXD2,MISSENSE,NM_004474.3:p.Ala368Pro/c.1102G>C,Gcg/Ccg,MODERATE,,0.999601,1,rs2405913,1(T),0.0(B),-1.845(N),-0.9447(T),,chr1,47904909,47904909,G,C,hom,missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala368Pro/c.1102G>C|495|FOXD2|protein_coding|CODING|NM_004474.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,1.000(P),-3.24(D),0.0000(T),0.075,-0.755720,4.4,3.48,-0.978000,0.309000,0.098000,0.496000,0.905000,0.000000,4.1889
missense_variant,SLC5A9,MISSENSE,NM_001135181.1:p.Ile294Met/c.882T>G,atT/atG,MODERATE,COSM4144064(1),0.999401,1,rs212991,1(T),"0.001,0.007,0.003(B,B,B)",0.115(N),-0.9148(T),,chr1,48697733,48697733,T,G,hom,"missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile269Met/c.807T>G|681|SLC5A9|protein_coding|CODING|NM_001011547.2|7|1),missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile294Met/c.882T>G|706|SLC5A9|protein_coding|CODING|NM_001135181.1|8|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,1,0.9986,0.998,1.00,1.00,1.00,,0.000082(N),0.000(P),"-2.35,-2.35,-2.35(D,D,D)",0.0000(T),0.095,0.532713,5.95,4.05,-0.215000,0.405000,1.851000,0.766000,0.986000,1.000000,5.7182
missense_variant,SPATA6,MISSENSE,NM_019073.3:p.Cys478Tyr/c.1433G>A,tGt/tAt,MODERATE,COSM146506(4),0.273962,0.3492,rs1056042,0.15(T),"0.994,0.994(D,D)",0.69(N),-0.8650(T),,chr1,48764419,48764419,C,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys462Tyr/c.1385G>A|472|SPATA6|protein_coding|CODING|NM_001286238.1|13|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys464Tyr/c.1391G>A|474|SPATA6|protein_coding|CODING|NM_001286239.1|12|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys478Tyr/c.1433G>A|488|SPATA6|protein_coding|CODING|NM_019073.3|13|1)",,,,,0.3354,0.3329,0.4254,0.31,0.09,0.42,,0.000008(D),0.104(P),"2.64,2.63,2.62(T,T,T)",0.0000(T),0.858,3.846395,4.78,4.78,0.563000,2.474000,1.488000,0.990000,1.000000,1.000000,13.1884
synonymous_variant,BEND5,SILENT,NM_024603.2:p.Arg245Arg/c.733C>A,Cgg/Agg,LOW,COSM3751267(1),0.689896,0.5327,rs1128934,,,,,,chr1,49224584,49224584,G,T,hom,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg245Arg/c.733C>A|421|BEND5|protein_coding|CODING|NM_024603.2|3|1),intron_variant(MODIFIER|||c.635-95671C>A|503|AGBL4|protein_coding|CODING|NM_032785.3|6|1)","H1ESC:H3K36me3,GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.6984,0.7795,0.8847,0.81,0.65,0.89,,,,,,,,,,,,,,,,
synonymous_variant,ELAVL4,SILENT,NM_001144775.2:p.Pro265Pro/c.795C>T,ccC/ccT,LOW,COSM4144067(1),0.816494,0.999,rs2480683,,,,,,chr1,50661411,50661411,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro229Pro/c.687C>T|366|ELAVL4|protein_coding|CODING|NM_001144774.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro265Pro/c.795C>T|402|ELAVL4|protein_coding|CODING|NM_001144775.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro229Pro/c.687C>T|366|ELAVL4|protein_coding|CODING|NM_001144776.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro232Pro/c.696C>T|369|ELAVL4|protein_coding|CODING|NM_001144777.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro234Pro/c.702C>T|371|ELAVL4|protein_coding|CODING|NM_001294348.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro229Pro/c.687C>T|380|ELAVL4|protein_coding|CODING|NM_021952.4|5|1)",GM06990:H3K27me3,,,,0.9836,0.9366,0.9712,0.80,0.46,0.97,,,,,,,,,,,,,,,,
missense_variant,ELAVL4,MISSENSE,NM_021952.4:p.Pro270Ser/c.808C>T,Ccc/Tcc,MODERATE,,0.697085,0.6528,rs2494876,0.67(T),0.002(B),0(N),-1.0169(T),,chr1,50666515,50666515,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro270Ser/c.808C>T|380|ELAVL4|protein_coding|CODING|NM_021952.4|7|1),intron_variant(MODIFIER|||c.774-8C>T|366|ELAVL4|protein_coding|CODING|NM_001144774.2|6|1),intron_variant(MODIFIER|||c.882-8C>T|402|ELAVL4|protein_coding|CODING|NM_001144775.2|6|1),intron_variant(MODIFIER|||c.774-8C>T|366|ELAVL4|protein_coding|CODING|NM_001144776.2|6|1),intron_variant(MODIFIER|||c.783-8C>T|369|ELAVL4|protein_coding|CODING|NM_001144777.2|6|1),intron_variant(MODIFIER|||c.789-8C>T|371|ELAVL4|protein_coding|CODING|NM_001294348.1|6|1)",,,,,0.8804,0.8804,0.9006,0.75,0.43,0.92,,0.001072(N),0.000(P),"2.89,2.89(T,T)",0.0000(T),0.113,0.391338,5.37,3.52,0.655000,0.833000,1.606000,0.998000,1.000000,1.000000,9.9916
synonymous_variant,DMRTA2,SILENT,NM_032110.2:p.Ala396Ala/c.1188C>T,gcC/gcT,LOW,,,,rs2746610,,,,,,chr1,50884778,50884778,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala396Ala/c.1188C>T|542|DMRTA2|protein_coding|CODING|NM_032110.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,EPS15,SILENT,NM_001981.2:p.Tyr443Tyr/c.1329C>T,taC/taT,LOW,,0.822684,0.9921,rs1065754,,,,,,chr1,51873951,51873951,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr129Tyr/c.387C>T|582|EPS15|protein_coding|CODING|NM_001159969.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr443Tyr/c.1329C>T|896|EPS15|protein_coding|CODING|NM_001981.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.7622,0.6223,0.73,0.87,0.65,,,,,,,,,,,,,,,,
synonymous_variant,OSBPL9,SILENT,NM_148909.3:p.Asp359Asp/c.1077T>C,gaT/gaC,LOW,,,,,,,,,,chr1,52237850,52237850,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp349Asp/c.1047T>C|736|OSBPL9|protein_coding|CODING|NM_024586.5|13|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp171Asp/c.513T>C|558|OSBPL9|protein_coding|CODING|NM_148904.3|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp171Asp/c.513T>C|558|OSBPL9|protein_coding|CODING|NM_148905.3|8|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp332Asp/c.996T>C|719|OSBPL9|protein_coding|CODING|NM_148906.2|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp239Asp/c.717T>C|626|OSBPL9|protein_coding|CODING|NM_148907.2|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp336Asp/c.1008T>C|723|OSBPL9|protein_coding|CODING|NM_148908.3|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp359Asp/c.1077T>C|746|OSBPL9|protein_coding|CODING|NM_148909.3|13|1),non_coding_exon_variant(MODIFIER|||n.1205T>C||OSBPL9||CODING|NR_036662.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,NRD1,SILENT,NM_002525.2:p.Pro877Pro/c.2631C>T,ccC/ccT,LOW,COSM3747004(2),0.489018,0.8234,rs8375,,,,,,chr1,52266242,52266242,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro809Pro/c.2427C>T|1151|NRD1|protein_coding|CODING|NM_001101662.1|21|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro745Pro/c.2235C>T|1087|NRD1|protein_coding|CODING|NM_001242361.1|23|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro877Pro/c.2631C>T|1219|NRD1|protein_coding|CODING|NM_002525.2|23|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3885,0.5937,0.5298,0.43,0.28,0.50,,,0.000(P),,,.,0.540470,4.91,-4.12,-2.102000,-0.487000,-3.991000,0.950000,0.990000,0.000000,1.9029
synonymous_variant,NRD1,SILENT,NM_002525.2:p.Gly405Gly/c.1215A>C,ggA/ggC,LOW,COSM3747006(1),0.498403,0.8313,rs11205896,,,,,,chr1,52290984,52290984,T,G,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly337Gly/c.1011A>C|1151|NRD1|protein_coding|CODING|NM_001101662.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly273Gly/c.819A>C|1087|NRD1|protein_coding|CODING|NM_001242361.1|8|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly405Gly/c.1215A>C|1219|NRD1|protein_coding|CODING|NM_002525.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3926,0.6009,0.5239,0.43,0.29,0.50,,,,,,,,,,,,,,,,
missense_variant,KTI12,MISSENSE,NM_138417.2:p.Gly112Asp/c.335G>A,gGc/gAc,MODERATE,,0.000599042,0,rs144575218,0.68(T),0.003(B),0.69(N),-1.0244(T),,chr1,52499099,52499099,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly112Asp/c.335G>A|354|KTI12|protein_coding|CODING|NM_138417.2|1|1),intron_variant(MODIFIER|||c.159-4797G>A|172|TXNDC12|protein_coding|CODING|NM_015913.3|2|1),non_coding_exon_variant(MODIFIER|||n.1735G>A||TXNDC12||CODING|NR_046406.1|3|1),non_coding_exon_variant(MODIFIER|||n.1858G>A||TXNDC12||CODING|NR_046405.1|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,CD4:H2AK9ac,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0,0.0014,0.002,0.00,0.00,0.00,,0.704001(N),1.000(N),0.98(T),0.0589(T),0.12,1.715189,4.83,-0.434,0.655000,0.000000,0.633000,0.069000,0.000000,0.000000,5.5331
synonymous_variant,ZCCHC11,SILENT,NM_001009881.2:p.Pro105Pro/c.315G>A,ccG/ccA,LOW,COSM3747011(1),0.285942,0.4306,rs12123698,,,,,,chr1,52991638,52991638,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro105Pro/c.315G>A|1645|ZCCHC11|protein_coding|CODING|NM_001009881.2|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro105Pro/c.315G>A|1644|ZCCHC11|protein_coding|CODING|NM_015269.2|2|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2597,0.5072,0.3698,0.25,0.08,0.33,,,,,,,,,,,,,,,,
synonymous_variant,GPX7,SILENT,NM_015696.4:p.Ala4Ala/c.12G>T,gcG/gcT,LOW,COSM3751285(2),0.0479233,0.001,rs11205977,,,,,,chr1,53068093,53068093,G,T,het,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala4Ala/c.12G>T|187|GPX7|protein_coding|CODING|NM_015696.4|1|1),"CD4:H3K18ac,CD4:H2BK5ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,CD4:PolII,HepG2:DNase1,HSMM:H3K4me3,CD4:H2BK120ac",,,,0.0603,0.0706,0.0944,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,GPX7,SILENT,NM_015696.4:p.Phe79Phe/c.237T>C,ttT/ttC,LOW,COSM3997572(1),0.877995,0.7996,rs1970951,,,,,,chr1,53072454,53072454,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe79Phe/c.237T>C|187|GPX7|protein_coding|CODING|NM_015696.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8661,0.879,0.841,0.88,0.95,0.84,,,,,,,,,,,,,,,,
synonymous_variant,FAM159A,SILENT,NM_001042693.1:p.Arg37Arg/c.111C>G,cgC/cgG,LOW,,0.00159744,0,rs202139774,,,,,,chr1,53099276,53099276,C,G,het,synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg37Arg/c.111C>G|190|FAM159A|protein_coding|CODING|NM_001042693.1|1|1),"H1ESC:H3K36me3,CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,CD4:H2BK5ac,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,CD4:H3K4ac,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3,CD4:H3K4me2,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac",,,,0,0.0029,0.006,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,ZYG11B,SILENT,NM_024646.2:p.Gly398Gly/c.1194G>A,ggG/ggA,LOW,,0.714856,0.9792,rs6588443,,,,,,chr1,53250650,53250650,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly398Gly/c.1194G>A|744|ZYG11B|protein_coding|CODING|NM_024646.2|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5061,0.6729,0.4284,0.57,0.83,0.44,,,,,,,,,,,,,,,,
missense_variant,ZYG11A,MISSENSE,NM_001004339.2:p.Glu76Asp/c.228G>T,gaG/gaT,MODERATE,COSM3747012(2),0.589257,0.2292,rs480299,1(T),0.001(B),-0.55(N),-0.9762(T),,chr1,53320274,53320274,G,T,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu76Asp/c.228G>T|759|ZYG11A|protein_coding|CODING|NM_001004339.2|2|1),"GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.589,0.4424,0.6461,,,,,0.000000(N),0.000(P),1.11(T),0.0000(T),0.104,-1.163433,5.4,0.36,-0.335000,-0.382000,0.233000,0.153000,0.773000,0.992000,5.3962
missense_variant,PODN,MISSENSE,NM_153703.4:p.Arg32His/c.95G>A,cGt/cAt,MODERATE,COSM3747014(3),0.357428,0.5536,rs1288386,0.35(T),"0.02,0.02,0.02(B,B,B)",,-0.9070(T),,chr1,53535478,53535478,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg13His/c.38G>A|642|PODN|protein_coding|CODING|NM_001199080.1|4|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg13His/c.38G>A|642|PODN|protein_coding|CODING|NM_001199081.1|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg32His/c.95G>A|519|PODN|protein_coding|CODING|NM_001199082.1|2|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg32His/c.95G>A|661|PODN|protein_coding|CODING|NM_153703.4|2|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.41,0.3444,0.4254,0.34,0.18,0.42,,,1.000(P),"0.79,0.02,0.81(T,T,T)",0.0000(T),0.034,0.967718,1.96,1.03,0.491000,0.403000,-0.199000,0.204000,0.000000,0.000000,4.5042
synonymous_variant,PODN,SILENT,NM_153703.4:p.Thr172Thr/c.516G>A,acG/acA,LOW,COSM3751291(3),0.55611,0.7371,rs1769316,,,,,,chr1,53537266,53537266,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr153Thr/c.459G>A|642|PODN|protein_coding|CODING|NM_001199080.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr153Thr/c.459G>A|642|PODN|protein_coding|CODING|NM_001199081.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr172Thr/c.516G>A|661|PODN|protein_coding|CODING|NM_153703.4|3|1),intron_variant(MODIFIER|||c.456+1427G>A|519|PODN|protein_coding|CODING|NM_001199082.1|2|1)","GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4755,0.6499,0.4652,0.49,0.52,0.47,,,,,,,,,,,,,,,,
synonymous_variant,PODN,SILENT,NM_153703.4:p.Pro467Pro/c.1401G>A,ccG/ccA,LOW,COSM3997578(2),0.410543,0.2937,rs1288388,,,,,,chr1,53544439,53544439,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro448Pro/c.1344G>A|642|PODN|protein_coding|CODING|NM_001199080.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro448Pro/c.1344G>A|642|PODN|protein_coding|CODING|NM_001199081.1|9|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro325Pro/c.975G>A|519|PODN|protein_coding|CODING|NM_001199082.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro467Pro/c.1401G>A|661|PODN|protein_coding|CODING|NM_153703.4|8|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.498,0.4813,0.7326,0.57,0.26,0.73,,,,,,,,,,,,,,,,
missense_variant,PODN,MISSENSE,NM_153703.4:p.Val520Ala/c.1559T>C,gTg/gCg,MODERATE,,0.560903,0.3304,rs1288389,1(T),"0.006,0.001,0.001(B,B,B)",-0.275(N),-0.9585(T),,chr1,53544597,53544597,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val501Ala/c.1502T>C|642|PODN|protein_coding|CODING|NM_001199080.1|10|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val501Ala/c.1502T>C|642|PODN|protein_coding|CODING|NM_001199081.1|9|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val378Ala/c.1133T>C|519|PODN|protein_coding|CODING|NM_001199082.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val520Ala/c.1559T>C|661|PODN|protein_coding|CODING|NM_153703.4|8|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.6585,0.5793,0.8986,0.75,0.47,0.89,,0.026738(N),1.000(P),"3.72,1.9,3.72(T,T,T)",0.0000(T),0.023,-0.513547,4.82,3.91,-0.930000,0.655000,2.272000,0.837000,0.897000,0.956000,11.8026
synonymous_variant,SLC1A7,SILENT,NM_001287595.1:p.Ser613Ser/c.1839T>C,agT/agC,LOW,,0.942891,1,rs1288400,,,,,,chr1,53553702,53553702,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser613Ser/c.1839T>C|619|SLC1A7|protein_coding|CODING|NM_001287595.1|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser554Ser/c.1662T>C|560|SLC1A7|protein_coding|CODING|NM_006671.5|11|1),3_prime_UTR_variant(MODIFIER||46|c.*46T>C|472|SLC1A7|protein_coding|CODING|NM_001287597.1|10|1),non_coding_exon_variant(MODIFIER|||n.1817T>C||SLC1A7||CODING|NR_109858.1|11|1)","HepG2:H3K4me2,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,1,0.9942,1,0.94,0.83,1.00,,,,,,,,,,,,,,,,
missense_variant,SLC1A7,MISSENSE,NM_001287595.1:p.Gln596Arg/c.1787A>G,cAg/cGg,MODERATE,COSM146516(1),0.410144,0.2966,rs1288401,0.4(T),0.0(B),0.46(N),-1.0000(T),,chr1,53553754,53553754,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln596Arg/c.1787A>G|619|SLC1A7|protein_coding|CODING|NM_001287595.1|11|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln537Arg/c.1610A>G|560|SLC1A7|protein_coding|CODING|NM_006671.5|11|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala471Ala/c.1413A>G|472|SLC1A7|protein_coding|CODING|NM_001287597.1|10|1),non_coding_exon_variant(MODIFIER|||n.1765A>G||SLC1A7||CODING|NR_109858.1|11|1)","HepG2:H3K4me2,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,0.4969,0.4798,0.7336,0.57,0.26,0.73,,0.001153(N),0.000(P),0.79(T),0.0000(T),0.127,1.896960,5.76,5.76,0.533000,2.186000,4.223000,0.586000,0.999000,1.000000,16.0916
synonymous_variant,SLC1A7,SILENT,NM_001287595.1:p.Arg329Arg/c.987T>C,cgT/cgC,LOW,COSM4144082(2),0.846046,0.9544,rs1288406,,,,,,chr1,53558270,53558270,A,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg329Arg/c.987T>C|619|SLC1A7|protein_coding|CODING|NM_001287595.1|7|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg257Arg/c.771T>C|472|SLC1A7|protein_coding|CODING|NM_001287597.1|6|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg329Arg/c.987T>C|560|SLC1A7|protein_coding|CODING|NM_006671.5|7|1),non_coding_exon_variant(MODIFIER|||n.1170T>C||SLC1A7||CODING|NR_109858.1|7|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8384,0.9207,0.835,0.81,0.76,0.84,,,,,,,,,,,,,,,,
missense_variant,CPT2,MISSENSE,NM_000098.2:p.Val368Ile/c.1102G>A,Gtc/Atc,MODERATE,COSM3751293(2),0.413139,0.7242,rs1799821,1(T),0.004(B),-0.36(N),-0.9547(T),,chr1,53676448,53676448,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val368Ile/c.1102G>A|658|CPT2|protein_coding|CODING|NM_000098.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000023026.1|RCV000078116.1|RCV000124601.1,,0.2188,0.3818,0.5179,0.46,0.29,0.54,,0.005156(N),0.999(P),-2.47(D),0.0000(T),0.077,-2.112224,5.72,-0.261,-0.140000,0.038000,-0.054000,0.204000,0.032000,0.000000,10.7366
missense_variant,CPT2,MISSENSE,NM_000098.2:p.Met647Val/c.1939A>G,Atg/Gtg,MODERATE,COSM3751294(2),0.100439,0.0853,rs1799822,0.13(T),0.009(B),0.955(L),-1.0578(T),,chr1,53679229,53679229,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met647Val/c.1939A>G|658|CPT2|protein_coding|CODING|NM_000098.2|5|1),downstream_gene_variant(MODIFIER||543||160|C1orf123|protein_coding|CODING|NM_017887.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000078120.1|RCV000124602.1,,0.0736,0.1542,0.2068,0.17,0.05,0.23,,0.000031(D),0.002(P),-2.62(D),0.0005(T),0.168,3.280726,5.9,5.9,0.528000,2.251000,7.445000,0.994000,1.000000,1.000000,16.3322
synonymous_variant,C1orf123,SILENT,NM_017887.1:p.Ser123Ser/c.369A>C,tcA/tcC,LOW,COSM3751295(2),0.0998403,0.0813,rs1134688,0.04(D),,,-1.0041(T),,chr1,53681699,53681699,T,G,het,"synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser123Ser/c.369A>C|160|C1orf123|protein_coding|CODING|NM_017887.1|7|1),downstream_gene_variant(MODIFIER||1830||658|CPT2|protein_coding|CODING|NM_000098.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0736,0.1542,0.2078,0.17,0.05,0.22,,,0.000(P),,0.0000(T),.,0.722953,5.7,-11.4,-0.993000,-2.135000,-2.547000,0.044000,0.433000,0.000000,7.3621
missense_variant,LRP8,MISSENSE,NM_004631.4:p.Arg952Gln/c.2855G>A,cGa/cAa,MODERATE,COSM3751296(2),0.144369,0.0327,rs5174,0.05(D),"0.996,0.99,0.096,0.978,0.49(D,D,B,D,P)",0.55(N),-1.2041(T),,chr1,53712727,53712727,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg893Gln/c.2678G>A|904|LRP8|protein_coding|CODING|NM_001018054.2|18|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg952Gln/c.2855G>A|963|LRP8|protein_coding|CODING|NM_004631.4|19|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg689Gln/c.2066G>A|700|LRP8|protein_coding|CODING|NM_017522.4|16|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg782Gln/c.2345G>A|793|LRP8|protein_coding|CODING|NM_033300.3|17|1),splice_region_variant(LOW|||c.2678G>A|904|LRP8|protein_coding|CODING|NM_001018054.2|18|1),splice_region_variant(LOW|||c.2855G>A|963|LRP8|protein_coding|CODING|NM_004631.4|19|1),splice_region_variant(LOW|||c.2066G>A|700|LRP8|protein_coding|CODING|NM_017522.4|16|1),splice_region_variant(LOW|||c.2345G>A|793|LRP8|protein_coding|CODING|NM_033300.3|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000007411.1,,0.1503,0.1772,0.3956,0.29,0.08,0.40,,,0.000(P),"-2.9,-2.82,-3.33,-2.75,-2.86(D,D,D,D,D)",0.0000(T),0.609,5.045892,5.43,5.43,0.563000,2.550000,7.102000,0.988000,1.000000,1.000000,17.4324
synonymous_variant,LRP8,SILENT,NM_004631.4:p.Asp874Asp/c.2622C>T,gaC/gaT,LOW,COSM3751297(2),0.370807,0.6984,rs3737983,,,,,,chr1,53716416,53716416,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp874Asp/c.2622C>T|904|LRP8|protein_coding|CODING|NM_001018054.2|17|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp874Asp/c.2622C>T|963|LRP8|protein_coding|CODING|NM_004631.4|17|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp670Asp/c.2010C>T|700|LRP8|protein_coding|CODING|NM_017522.4|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp704Asp/c.2112C>T|793|LRP8|protein_coding|CODING|NM_033300.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2229,0.2867,0.4076,0.36,0.27,0.41,,,,,,,,,,,,,,,,
synonymous_variant,LRP8,SILENT,NM_004631.4:p.Gly419Gly/c.1257C>A,ggC/ggA,LOW,COSM3751298(4),0.335264,0.6319,rs2297660,,,,-0.8975(T),,chr1,53732315,53732315,G,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly419Gly/c.1257C>A|904|LRP8|protein_coding|CODING|NM_001018054.2|9|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly419Gly/c.1257C>A|963|LRP8|protein_coding|CODING|NM_004631.4|9|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly290Gly/c.870C>A|700|LRP8|protein_coding|CODING|NM_017522.4|8|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly249Gly/c.747C>A|793|LRP8|protein_coding|CODING|NM_033300.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.182,0.2824,0.3956,0.34,0.23,0.40,,,0.000(P),,0.0000(T),.,1.038713,4.91,4.91,0.462000,2.550000,1.007000,0.955000,1.000000,1.000000,7.7546
synonymous_variant,LRP8,SILENT,NM_004631.4:p.Arg247Arg/c.741T>C,cgT/cgC,LOW,,0.370008,0.6974,rs56300220,,,,,,chr1,53742506,53742506,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg247Arg/c.741T>C|904|LRP8|protein_coding|CODING|NM_001018054.2|5|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg247Arg/c.741T>C|963|LRP8|protein_coding|CODING|NM_004631.4|5|1),intron_variant(MODIFIER|||c.496+3753T>C|793|LRP8|protein_coding|CODING|NM_033300.3|4|1),intron_variant(MODIFIER|||c.497-1081T>C|700|LRP8|protein_coding|CODING|NM_017522.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2188,0.2709,0.3708,,,,,,,,,,,,,,,,,,,
missense_variant,LRP8,MISSENSE,NM_004631.4:p.Asp46Glu/c.138T>G,gaT/gaG,MODERATE,COSM3722413(5),0.550319,0.4841,rs3820198,1(T),"0.0,0.0,0.001,0.001(B,B,B,B)",-0.15(N),-0.9397(T),,chr1,53792651,53792651,A,C,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp46Glu/c.138T>G|904|LRP8|protein_coding|CODING|NM_001018054.2|2|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp46Glu/c.138T>G|963|LRP8|protein_coding|CODING|NM_004631.4|2|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp46Glu/c.138T>G|700|LRP8|protein_coding|CODING|NM_017522.4|2|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp46Glu/c.138T>G|793|LRP8|protein_coding|CODING|NM_033300.3|2|1)","GM12878:Cmyc,H1ESC:PolII,CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.4479,0.2997,0.3867,0.52,0.83,0.36,,,0.000(P),"-3.61,-3.61,-3.61,-3.61(D,D,D,D)",0.0000(T),0.048,-1.207045,4.0,0.782,-1.219000,-0.278000,-0.884000,0.166000,0.274000,0.005000,1.5348
missense_variant,CDCP2,MISSENSE,NM_201546.3:p.Gly244Arg/c.730G>A,Gga/Aga,MODERATE,,0.824081,0.8681,rs3766465,0.12(T),0.934(D),1.24(L),-1.1069(T),,chr1,54606804,54606804,C,T,hom,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly244Arg/c.730G>A|449|CDCP2|protein_coding|CODING|NM_201546.3|3|1),"GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8425,0.7939,0.8509,0.82,0.78,0.85,,0.010735(N),0.000(P),2.32(T),0.0000(T),0.215,5.276053,5.57,5.57,0.561000,2.619000,7.769000,0.991000,1.000000,1.000000,19.5469
synonymous_variant,CDCP2,SILENT,NM_201546.3:p.Tyr161Tyr/c.483T>C,taT/taC,LOW,,0.996605,1,rs671103,,,,,,chr1,54607051,54607051,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr161Tyr/c.483T>C|449|CDCP2|protein_coding|CODING|NM_201546.3|3|1),"GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,CYB5RL,MISSENSE,NM_001031672.2:p.Arg47Lys/c.140G>A,aGg/aAg,MODERATE,COSM3751300(2),0.316294,0.255,rs946448,0.29(T),0.056(B),0.79(N),-0.9528(T),,chr1,54661150,54661150,C,T,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg47Lys/c.140G>A|315|CYB5RL|protein_coding|CODING|NM_001031672.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4806,0.3213,0.3519,0.30,0.21,0.34,,,0.000(P),"1.03,1.03,1.03,1.03,1.03,1.03(T,T,T,T,T,T)",0.0000(T),0.185,3.956210,5.17,4.24,0.561000,2.689000,0.880000,0.997000,1.000000,0.172000,8.214
missense_variant,MRPL37,MISSENSE,NM_016491.3:p.Cys366Ser/c.1097G>C,tGt/tCt,MODERATE,,0.583267,0.4028,rs13571,1(T),"0.0,0.0,0.0(B,B,B)",-2.28(N),-0.9902(T),,chr1,54681920,54681920,G,C,hom,missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys366Ser/c.1097G>C|423|MRPL37|protein_coding|CODING|NM_016491.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4734,0.6398,0.7922,0.74,0.66,0.78,,0.001646(N),1.000(P),"2.5,2.5(T,T)",0.0000(T),0.197,-2.149684,5.38,5.38,-0.371000,1.270000,2.059000,0.021000,0.030000,0.032000,16.3029
missense_variant,FAM151A,MISSENSE,NM_176782.2:p.Ala416Val/c.1247C>T,gCg/gTg,MODERATE,,0.302316,0.1815,rs1368883,0.05(D),0.045(B),0.92(L),-0.9623(T),,chr1,55075452,55075452,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala416Val/c.1247C>T|585|FAM151A|protein_coding|CODING|NM_176782.2|8|1),3_prime_UTR_variant(MODIFIER||667|c.*667G>A|594|ACOT11|protein_coding|CODING|NM_147161.3|16|1),intron_variant(MODIFIER|||c.1629+1711G>A|607|ACOT11|protein_coding|CODING|NM_015547.3|15|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.2873,0.3588,0.5388,0.43,0.25,0.52,,0.267684(N),1.000(P),2.78(T),0.0000(T),0.055,-0.531093,4.17,2.26,0.655000,0.682000,0.284000,0.034000,0.002000,0.001000,7.2099
missense_variant,FAM151A,MISSENSE,NM_176782.2:p.Asp51Asn/c.151G>A,Gac/Aac,MODERATE,,0.00359425,0.003,rs17399297,0.33(T),0.041(B),0.405(N),-0.9989(T),,chr1,55085648,55085648,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp51Asn/c.151G>A|585|FAM151A|protein_coding|CODING|NM_176782.2|2|1),intron_variant(MODIFIER|||c.1630-10759C>T|607|ACOT11|protein_coding|CODING|NM_015547.3|15|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0,0.0072,0.0099,0.01,0.00,0.01,,0.000005(D),1.000(D),"2.6,2.75(T,T)",0.0161(T),0.221,1.719137,4.48,4.48,0.455000,2.341000,6.245000,0.549000,0.933000,1.000000,16.0822
synonymous_variant,MROH7,SILENT,NM_001039464.3:p.Leu230Leu/c.690G>C,ctG/ctC,LOW,,0.420527,0.5208,rs9332417,,,,,,chr1,55119289,55119289,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu230Leu/c.690G>C|1323|MROH7|protein_coding|CODING|NM_001039464.3|3|1),intron_variant(MODIFIER|||c.-213-11551G>C|841|MROH7|protein_coding|CODING|NM_001291332.1|1|1),non_coding_exon_variant(MODIFIER|||n.1022G>C||MROH7||CODING|NR_026782.2|3|1),non_coding_exon_variant(MODIFIER|||n.1133G>C||MROH7-TTC4||NON_CODING|NR_037639.2|3|1),non_coding_exon_variant(MODIFIER|||n.1028G>C||MROH7-TTC4||NON_CODING|NR_037640.2|3|1),non_coding_exon_variant(MODIFIER|||n.1028G>C||MROH7-TTC4||NON_CODING|NR_037641.2|3|1),non_coding_exon_variant(MODIFIER|||n.1028G>C||MROH7||CODING|NR_111931.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3497,0.4063,0.5944,0.52,0.37,0.59,,,,,,,,,,,,,,,,
missense_variant,MROH7,MISSENSE,NM_001039464.3:p.Tyr306Asp/c.916T>G,Tat/Gat,MODERATE,COSM3997591(2),0.425519,0.4157,rs1655519,1(T),"0.0,0.0,0.0(B,B,B)",-0.805(N),-0.9367(T),,chr1,55119515,55119515,T,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr306Asp/c.916T>G|1323|MROH7|protein_coding|CODING|NM_001039464.3|3|1),intron_variant(MODIFIER|||c.-213-11325T>G|841|MROH7|protein_coding|CODING|NM_001291332.1|1|1),non_coding_exon_variant(MODIFIER|||n.1248T>G||MROH7||CODING|NR_026782.2|3|1),non_coding_exon_variant(MODIFIER|||n.1359T>G||MROH7-TTC4||NON_CODING|NR_037639.2|3|1),non_coding_exon_variant(MODIFIER|||n.1254T>G||MROH7-TTC4||NON_CODING|NR_037640.2|3|1),non_coding_exon_variant(MODIFIER|||n.1254T>G||MROH7-TTC4||NON_CODING|NR_037641.2|3|1),non_coding_exon_variant(MODIFIER|||n.1254T>G||MROH7||CODING|NR_111931.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.5665,0.3833,0.328,0.35,0.40,0.33,,0.902154(N),1.000(P),"3.81,3.81,3.81(T,T,T)",0.0000(T),0.014,-1.558021,3.89,2.98,-0.121000,0.629000,0.353000,0.003000,0.001000,0.001000,5.0515
missense_variant,MROH7,MISSENSE,NM_001039464.3:p.Ser312Phe/c.935C>T,tCc/tTc,MODERATE,COSM3751309(1),0.102835,0.002,rs17399810,0.03(D),"0.971,0.971,0.994(D,D,D)",0.895(L),-0.9202(T),,chr1,55119534,55119534,C,T,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser312Phe/c.935C>T|1323|MROH7|protein_coding|CODING|NM_001039464.3|3|1),intron_variant(MODIFIER|||c.-213-11306C>T|841|MROH7|protein_coding|CODING|NM_001291332.1|1|1),non_coding_exon_variant(MODIFIER|||n.1267C>T||MROH7||CODING|NR_026782.2|3|1),non_coding_exon_variant(MODIFIER|||n.1378C>T||MROH7-TTC4||NON_CODING|NR_037639.2|3|1),non_coding_exon_variant(MODIFIER|||n.1273C>T||MROH7-TTC4||NON_CODING|NR_037640.2|3|1),non_coding_exon_variant(MODIFIER|||n.1273C>T||MROH7-TTC4||NON_CODING|NR_037641.2|3|1),non_coding_exon_variant(MODIFIER|||n.1273C>T||MROH7||CODING|NR_111931.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0818,0.1369,0.2237,0.20,0.11,0.24,,0.520120(N),0.014(P),"3.47,3.47,3.47(T,T,T)",0.0000(T),0.151,2.751855,3.89,3.89,0.655000,2.471000,1.680000,0.006000,0.020000,0.163000,11.6674
missense_variant,MROH7,MISSENSE,NM_001039464.3:p.Glu316Gly/c.947A>G,gAg/gGg,MODERATE,,0.953075,1,rs1655518,1(T),"0.0,0.0,0.0(B,B,B)",-0.805(N),-0.9926(T),,chr1,55119546,55119546,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu316Gly/c.947A>G|1323|MROH7|protein_coding|CODING|NM_001039464.3|3|1),intron_variant(MODIFIER|||c.-213-11294A>G|841|MROH7|protein_coding|CODING|NM_001291332.1|1|1),non_coding_exon_variant(MODIFIER|||n.1279A>G||MROH7||CODING|NR_026782.2|3|1),non_coding_exon_variant(MODIFIER|||n.1390A>G||MROH7-TTC4||NON_CODING|NR_037639.2|3|1),non_coding_exon_variant(MODIFIER|||n.1285A>G||MROH7-TTC4||NON_CODING|NR_037640.2|3|1),non_coding_exon_variant(MODIFIER|||n.1285A>G||MROH7-TTC4||NON_CODING|NR_037641.2|3|1),non_coding_exon_variant(MODIFIER|||n.1285A>G||MROH7||CODING|NR_111931.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9914,0.998,0.96,0.88,1.00,,0.483013(N),1.000(P),"3.68,3.68,3.68(T,T,T)",0.0000(T),0.057,-1.540849,3.89,0.747,-0.726000,-0.049000,-0.108000,0.000000,0.000000,0.000000,0.9251
missense_variant,MROH7,MISSENSE,NM_001039464.3:p.Val509Ala/c.1526T>C,gTg/gCg,MODERATE,COSM4144097(1),0.378994,0.372,rs480963,0.15(T),"0.962,0.848,0.848(D,P,P)",1.79(L),-0.8632(T),,chr1,55136529,55136529,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val509Ala/c.1526T>C|1323|MROH7|protein_coding|CODING|NM_001039464.3|7|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val27Ala/c.80T>C|841|MROH7|protein_coding|CODING|NM_001291332.1|5|1),non_coding_exon_variant(MODIFIER|||n.1858T>C||MROH7||CODING|NR_026782.2|7|1),non_coding_exon_variant(MODIFIER|||n.2044T>C||MROH7-TTC4||NON_CODING|NR_037639.2|8|1),non_coding_exon_variant(MODIFIER|||n.1864T>C||MROH7-TTC4||NON_CODING|NR_037640.2|7|1),non_coding_exon_variant(MODIFIER|||n.1864T>C||MROH7-TTC4||NON_CODING|NR_037641.2|7|1),non_coding_exon_variant(MODIFIER|||n.1864T>C||MROH7||CODING|NR_111931.1|7|1)",IMR90:H3K27me3,,,,0.5706,0.4669,0.2863,0.28,0.26,0.29,,0.009567(N),0.000(P),"3.42,3.42,3.42,3.42,3.42,3.42(T,T,T,T,T,T)",0.0000(T),0.335,2.987550,5.08,5.08,0.529000,1.931000,3.724000,0.156000,0.972000,0.986000,11.2957
missense_variant,MROH7,MISSENSE,NM_001039464.3:p.His618Arg/c.1853A>G,cAc/cGc,MODERATE,COSM3747021(1),0.909744,0.998,rs570218,1(T),"0.0,0.0,0.0(B,B,B)",-2.095(N),-1.0099(T),,chr1,55139741,55139741,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His618Arg/c.1853A>G|1323|MROH7|protein_coding|CODING|NM_001039464.3|10|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His136Arg/c.407A>G|841|MROH7|protein_coding|CODING|NM_001291332.1|8|1),non_coding_exon_variant(MODIFIER|||n.2201A>G||MROH7||CODING|NR_026782.2|10|1),non_coding_exon_variant(MODIFIER|||n.2387A>G||MROH7-TTC4||NON_CODING|NR_037639.2|11|1),non_coding_exon_variant(MODIFIER|||n.2207A>G||MROH7-TTC4||NON_CODING|NR_037641.2|10|1),non_coding_exon_variant(MODIFIER|||n.2191A>G||MROH7-TTC4||NON_CODING|NR_037640.2|10|1),non_coding_exon_variant(MODIFIER|||n.2191A>G||MROH7||CODING|NR_111931.1|10|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9448,0.8559,0.8032,0.83,0.91,0.79,,0.004242(N),0.000(P),"4.76,4.76,4.76,4.76,4.76,4.76(T,T,T,T,T,T)",0.0000(T),0.094,-0.013634,4.65,4.65,-0.220000,0.981000,3.045000,0.965000,0.891000,0.996000,9.0285
synonymous_variant,MROH7,SILENT,NM_001039464.3:p.Pro1044Pro/c.3132C>T,ccC/ccT,LOW,COSM1126984(3),0.25,0.1141,rs1065173,,,,,,chr1,55166842,55166842,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1044Pro/c.3132C>T|1323|MROH7|protein_coding|CODING|NM_001039464.3|19|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro562Pro/c.1686C>T|841|MROH7|protein_coding|CODING|NM_001291332.1|17|1),non_coding_exon_variant(MODIFIER|||n.3480C>T||MROH7||CODING|NR_026782.2|19|1),non_coding_exon_variant(MODIFIER|||n.3666C>T||MROH7-TTC4||NON_CODING|NR_037639.2|20|1),non_coding_exon_variant(MODIFIER|||n.3470C>T||MROH7-TTC4||NON_CODING|NR_037640.2|19|1),non_coding_exon_variant(MODIFIER|||n.3486C>T||MROH7-TTC4||NON_CODING|NR_037641.2|19|1),non_coding_exon_variant(MODIFIER|||n.3315C>T||MROH7||CODING|NR_111931.1|18|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.318,0.2248,0.3191,0.29,0.26,0.30,,,,,,,,,,,,,,,,
missense_variant,MROH7,MISSENSE,NM_001039464.3:p.Val1099Asp/c.3296T>A,gTc/gAc,MODERATE,,0.917931,0.9365,rs646356,1(T),"0.0,0.0(B,B)",-1.845(N),-0.9851(T),,chr1,55167773,55167773,T,A,hom,"missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val1099Asp/c.3296T>A|1323|MROH7|protein_coding|CODING|NM_001039464.3|20|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val617Asp/c.1850T>A|841|MROH7|protein_coding|CODING|NM_001291332.1|18|1),non_coding_exon_variant(MODIFIER|||n.3650T>A||MROH7-TTC4||NON_CODING|NR_037641.2|20|1),non_coding_exon_variant(MODIFIER|||n.3644T>A||MROH7||CODING|NR_026782.2|20|1),non_coding_exon_variant(MODIFIER|||n.3830T>A||MROH7-TTC4||NON_CODING|NR_037639.2|21|1),non_coding_exon_variant(MODIFIER|||n.3634T>A||MROH7-TTC4||NON_CODING|NR_037640.2|20|1),non_coding_exon_variant(MODIFIER|||n.3479T>A||MROH7||CODING|NR_111931.1|19|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8885,0.9251,0.832,0.88,0.97,0.83,,0.888481(N),0.999(P),"1.53,1.53,1.53,1.53(T,T,T,T)",0.0000(T),0.175,-1.783989,4.99,2.63,-0.827000,0.062000,0.573000,0.417000,0.127000,0.273000,5.071
missense_variant,TTC4,MISSENSE,NM_004623.4:p.Ser47Thr/c.139T>A,Tcg/Acg,MODERATE,COSM3751310(1),0.668331,0.9683,rs1147990,1(T),"0.0,0.0(B,B)",-0.425(N),-0.9648(T),,chr1,55182300,55182300,T,A,het,"missense_variant(MODERATE|MISSENSE|Tcg/Acg|p.Ser47Thr/c.139T>A|288|TTC4|protein_coding|CODING|NM_001291333.1|2|1),missense_variant(MODERATE|MISSENSE|Tcg/Acg|p.Ser47Thr/c.139T>A|387|TTC4|protein_coding|CODING|NM_004623.4|2|1),non_coding_exon_variant(MODIFIER|||n.4317T>A||MROH7-TTC4||NON_CODING|NR_037639.2|25|1),non_coding_exon_variant(MODIFIER|||n.4184T>A||MROH7-TTC4||NON_CODING|NR_037640.2|25|1),non_coding_exon_variant(MODIFIER|||n.4068T>A||MROH7-TTC4||NON_CODING|NR_037641.2|24|1)","NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,IMR90:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,K562:H3K9ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1",,,,0.7485,0.6081,0.5477,0.52,0.55,0.51,,,0.000(P),2.67(T),0.0000(T),0.012,1.502706,4.92,4.92,-0.257000,1.011000,5.925000,0.591000,0.996000,1.000000,9.6171
missense_variant,PARS2,MISSENSE,NM_152268.3:p.Asn235Ser/c.704A>G,aAc/aGc,MODERATE,,0.159345,0.1756,rs2270004,0.88(T),0.003(B),0.23(N),-1.1058(T),,chr1,55224131,55224131,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn235Ser/c.704A>G|475|PARS2|protein_coding|CODING|NM_152268.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1687,0.1398,0.1471,0.14,0.14,0.14,,0.278172(N),1.000(P),-0.24(T),0.0004(T),0.004,-1.504196,5.34,-2.1,0.533000,-0.521000,0.203000,0.006000,0.011000,0.022000,6.5773
missense_variant,PARS2,MISSENSE,NM_152268.3:p.Arg28Ser/c.84G>T,agG/agT,MODERATE,,0.130192,0.1756,rs11577368,0.02(D),0.06(B),1.52(L),-1.0853(T),,chr1,55224751,55224751,C,A,het,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg28Ser/c.84G>T|475|PARS2|protein_coding|CODING|NM_152268.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1677,0.1297,0.1471,0.12,0.06,0.14,,0.049765(N),1.000(P),0.95(T),0.0003(T),0.179,0.224267,4.73,1.67,0.579000,0.563000,-0.280000,0.172000,0.366000,0.000000,5.7474
synonymous_variant,TTC22,SILENT,NM_001114108.1:p.Glu329Glu/c.987A>G,gaA/gaG,LOW,,0.999002,1,rs586462,,,,,,chr1,55251689,55251689,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu329Glu/c.987A>G|569|TTC22|protein_coding|CODING|NM_001114108.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu329Glu/c.987A>G|372|TTC22|protein_coding|CODING|NM_017904.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,C1orf177,MISSENSE,NM_001110533.1:p.Gly126Cys/c.376G>T,Ggc/Tgc,MODERATE,COSM3751314(1),0.498003,0.2708,rs9782980,0(D),"0.999,0.999(D,D)",2.135(M),-0.9028(T),,chr1,55273580,55273580,G,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly126Cys/c.376G>T|418|C1orf177|protein_coding|CODING|NM_001110533.1|4|1),missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly126Cys/c.376G>T|414|C1orf177|protein_coding|CODING|NM_152607.2|4|1)","CD4:H2BK5ac,HepG2:H3K27me3",,,,0.6605,0.4568,0.5905,0.57,0.51,0.60,,0.000005(D),0.000(P),"1.76,1.76(T,T)",0.0000(T),0.395,2.589442,5.37,4.45,0.561000,2.531000,3.474000,0.343000,0.987000,0.998000,9.0072
missense_variant,C1orf177,MISSENSE,NM_001110533.1:p.Tyr205His/c.613T>C,Tat/Cat,MODERATE,,1,1,rs386601006,0.58(T),"0.0,0.0(B,B)",-1.87(N),-1.0228(T),,chr1,55277599,55277599,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr205His/c.613T>C|418|C1orf177|protein_coding|CODING|NM_001110533.1|5|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr205His/c.613T>C|414|C1orf177|protein_coding|CODING|NM_152607.2|5|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.729336(N),1.000(P),"2.15,2.15(T,T)",0.0000(T),0.067,-0.014907,4.66,1.29,-0.215000,0.221000,0.145000,0.002000,0.055000,0.000000,3.0667
synonymous_variant,DHCR24,SILENT,NM_014762.3:p.Ile342Ile/c.1026T>C,atT/atC,LOW,COSM4144102(1),0.627596,0.4167,rs718265,,,,,,chr1,55319902,55319902,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile342Ile/c.1026T>C|516|DHCR24|protein_coding|CODING|NM_014762.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8231,0.585,0.6809,0.67,0.61,0.69,,,,,,,,,,,,,,,,
synonymous_variant,TMEM61,SILENT,NM_182532.1:p.Ala189Ala/c.567G>A,gcG/gcA,LOW,COSM3997605(3),0.78754,0.6379,rs2500326,,,,,,chr1,55457710,55457710,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala189Ala/c.567G>A|210|TMEM61|protein_coding|CODING|NM_182532.1|3|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.819,0.8876,0.8002,0.81,0.82,0.81,,,,,,,,,,,,,,,,
missense_variant,PCSK9,MISSENSE,NM_174936.3:p.Ala53Val/c.158C>T,gCc/gTc,MODERATE,COSM426501(1),0.091254,0.1032,rs11583680,0.38(T),0.0(B),0(N),-1.0848(T),,chr1,55505668,55505668,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala53Val/c.158C>T|692|PCSK9|protein_coding|CODING|NM_174936.3|1|1),upstream_gene_variant(MODIFIER||227|||PCSK9||CODING|NR_110451.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HMEC:H3K4me2,K562:Znf263,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:TAF1,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1",,RCV000030348.1,,0.1616,0.0735,0.1342,0.10,0.03,0.13,,0.930071(N),1.000(P),"-0.57,-0.63(T,T)",0.0019(T),0.077,0.965854,3.18,2.23,0.313000,0.478000,0.283000,0.709000,0.000000,0.000000,4.0426
synonymous_variant,PCSK9,SILENT,NM_174936.3:p.Gln342Gln/c.1026A>G,caA/caG,LOW,,0.981829,1,rs509504,,,,,,chr1,55523033,55523033,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln342Gln/c.1026A>G|692|PCSK9|protein_coding|CODING|NM_174936.3|7|1),non_coding_exon_variant(MODIFIER|||n.685A>G||PCSK9||CODING|NR_110451.1|5|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,0.9986,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PCSK9,SILENT,NM_174936.3:p.Val460Val/c.1380A>G,gtA/gtG,LOW,COSM3747025(1),0.869209,0.9881,rs540796,0.16(T),,,-1.0133(T),,chr1,55524197,55524197,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val460Val/c.1380A>G|692|PCSK9|protein_coding|CODING|NM_174936.3|9|1),non_coding_exon_variant(MODIFIER|||n.987A>G||PCSK9||CODING|NR_110451.1|7|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9059,0.8948,0.8211,0.82,0.79,0.83,,,0.000(P),-1.5(D),0.0000(T),.,-0.264858,4.47,4.47,-0.355000,0.861000,1.258000,0.390000,0.982000,1.000000,7.5141
missense_variant,PCSK9,MISSENSE,NM_174936.3:p.Val474Ile/c.1420G>A,Gtc/Atc,MODERATE,COSM3722998(2),0.86901,0.9881,rs386599232,0.29(T),0.002(B),0.895(L),-0.9695(T),,chr1,55524237,55524237,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val474Ile/c.1420G>A|692|PCSK9|protein_coding|CODING|NM_174936.3|9|1),non_coding_exon_variant(MODIFIER|||n.1027G>A||PCSK9||CODING|NR_110451.1|7|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9049,0.8948,0.8211,0.82,0.79,0.83,,0.007472(N),1.000(P),-0.52(T),0.0000(T),0.043,1.517087,4.47,-8.95,-1.449000,-2.214000,-0.834000,0.001000,0.000000,0.000000,3.8461
missense_variant,PCSK9,MISSENSE,NM_174936.3:p.Gly670Glu/c.2009G>A,gGg/gAg,MODERATE,,0.898962,0.9603,rs505151,1(T),0.0(B),-0.695(N),-0.9761(T),,chr1,55529187,55529187,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly670Glu/c.2009G>A|692|PCSK9|protein_coding|CODING|NM_174936.3|12|1),non_coding_exon_variant(MODIFIER|||n.1616G>A||PCSK9||CODING|NR_110451.1|10|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000030349.1,,0.9744,0.964,0.9652,0.89,0.74,0.96,,0.338539(N),1.000(P),-0.35(T),0.0000(T),0.02,-1.388314,2.82,0.348,-0.556000,-0.244000,0.507000,0.000000,0.000000,0.000000,4.5696
missense_variant,USP24,MISSENSE,NM_015306.2:p.Val2468Ala/c.7403T>C,gTa/gCa,MODERATE,COSM3747026(1),0.692292,0.9187,rs386596053,0.86(T),0.001(B),-0.205(N),-1.0245(T),,chr1,55541174,55541174,A,G,hom,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val2468Ala/c.7403T>C|2620|USP24|protein_coding|CODING|NM_015306.2|63|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8456,0.8473,0.7714,0.64,0.36,0.77,,0.000591(D),0.695(P),"4.45,4.46(T,T)",0.0000(T),0.217,1.954963,5.35,4.22,0.533000,1.158000,5.139000,0.993000,0.984000,1.000000,11.4124
missense_variant,USP24,MISSENSE,NM_015306.2:p.Thr226Ile/c.677C>T,aCt/aTt,MODERATE,COSM3747030(1),0.907149,0.995,rs1165222,0.23(T),0.0(B),-0.69(N),-0.9963(T),,chr1,55638075,55638075,G,A,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr226Ile/c.677C>T|2620|USP24|protein_coding|CODING|NM_015306.2|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:Nrsf,GM06990:H3K36me3",,,,0.9284,0.9164,0.837,0.85,0.87,0.84,,0.125121(N),1.000(P),"4.43,4.43(T,T)",0.0000(T),0.025,0.460362,5.81,2.19,-0.352000,0.102000,2.993000,0.987000,0.988000,0.997000,9.3525
missense_variant,C8A,MISSENSE,NM_000562.2:p.Gln93Lys/c.277C>A,Caa/Aaa,MODERATE,,0.34365,0.496,rs652785,0.35(T),0.012(B),1.7(L),-0.9911(T),,chr1,57340727,57340727,C,A,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln93Lys/c.277C>A|584|C8A|protein_coding|CODING|NM_000562.2|3|1),HepG2:H3K36me3,,RCV000018567.1,,0.4796,0.2507,0.3439,0.32,0.21,0.38,,0.480872(N),1.000(P),-0.91(T),0.0000(T),0.065,-0.687821,5.42,3.42,0.650000,1.478000,0.109000,0.013000,0.490000,0.000000,10.1215
missense_variant,C8B,MISSENSE,NM_000066.3:p.Gly117Arg/c.349G>A,Gga/Aga,MODERATE,,0.986422,1,rs1013579,0.8(T),"0.0,0.0(B,B)",,-0.9489(T),,chr1,57422484,57422484,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly117Arg/c.349G>A|591|C8B|protein_coding|CODING|NM_000066.3|3|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly65Arg/c.193G>A|539|C8B|protein_coding|CODING|NM_001278543.1|4|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly55Arg/c.163G>A|529|C8B|protein_coding|CODING|NM_001278544.1|4|1)",,,,,0.9898,0.9683,0.9652,0.98,0.99,0.97,,0.014104(N),1.000(P),"1.89,1.89,1.71(T,T,T)",0.0000(T),0.173,0.646669,5.41,-0.165,-0.269000,-0.139000,0.535000,0.915000,0.997000,0.998000,10.3156
synonymous_variant,MYSM1,SILENT,NM_001085487.2:p.Leu754Leu/c.2262C>T,ctC/ctT,LOW,,0.247804,0.3095,rs7523134,,,,,,chr1,59127086,59127086,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu754Leu/c.2262C>T|828|MYSM1|protein_coding|CODING|NM_001085487.2|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3047,0.2421,0.2843,0.26,0.17,0.29,,,,,,,,,,,,,,,,
missense_variant,FGGY,MISSENSE,NM_001113411.1:p.Asn43Lys/c.129T>G,aaT/aaG,MODERATE,COSM146529(3),0.467252,0.4782,rs835409,,"0.0,0.0,0.0,0.0(B,B,B,B)",-0.345(N),-0.9311(T),,chr1,59787350,59787350,T,G,hom,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn43Lys/c.129T>G|575|FGGY|protein_coding|CODING|NM_001113411.1|2|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn43Lys/c.129T>G|463|FGGY|protein_coding|CODING|NM_001244714.1|2|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn43Lys/c.129T>G|551|FGGY|protein_coding|CODING|NM_018291.3|2|1),non_coding_exon_variant(MODIFIER|||n.299T>G||FGGY||CODING|NR_103473.1|3|1)","HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5092,0.4078,0.3509,0.39,0.51,0.34,,0.023650(N),0.000(P),"0.37,0.37,0.37,0.37(T,T,T,T)",0.0000(T),0.117,1.348245,5.2,0.0513,-0.121000,-0.384000,-1.274000,0.980000,0.030000,0.000000,1.3217
synonymous_variant,FGGY,SILENT,NM_001113411.1:p.Pro172Pro/c.516G>A,ccG/ccA,LOW,COSM3997616(1),0.493211,0.4266,rs835435,,,,,,chr1,59844471,59844471,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro172Pro/c.516G>A|575|FGGY|protein_coding|CODING|NM_001113411.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro84Pro/c.252G>A|463|FGGY|protein_coding|CODING|NM_001244714.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro172Pro/c.516G>A|551|FGGY|protein_coding|CODING|NM_018291.3|5|1),non_coding_exon_variant(MODIFIER|||n.686G>A||FGGY||CODING|NR_103473.1|6|1)",,,,,0.4683,0.4078,0.3996,0.46,0.63,0.38,,,,,,,,,,,,,,,,
missense_variant,C1orf87,MISSENSE,NM_152377.2:p.Lys403Glu/c.1207A>G,Aaa/Gaa,MODERATE,COSM3751332(1),0.551118,0.628,rs386602107,0.86(T),0.0(B),-0.255(N),-0.9511(T),,chr1,60466814,60466814,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys403Glu/c.1207A>G|546|C1orf87|protein_coding|CODING|NM_152377.2|10|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4468,0.6167,0.4483,0.51,0.60,0.46,,0.160746(N),1.000(P),"2.43,1.51(T,T)",0.0000(T),0.197,-0.018223,5.08,2.19,-0.242000,0.400000,0.351000,0.064000,0.018000,0.006000,6.8236
synonymous_variant,NFIA,SILENT,NM_001145512.1:p.Pro406Pro/c.1218G>A,ccG/ccA,LOW,COSM3751335(1),0.353834,0.5625,rs2236059,,,,,,chr1,61869783,61869783,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro361Pro/c.1083G>A|509|NFIA|protein_coding|CODING|NM_001134673.3|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro353Pro/c.1059G>A|501|NFIA|protein_coding|CODING|NM_001145511.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro406Pro/c.1218G>A|554|NFIA|protein_coding|CODING|NM_001145512.1|9|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro361Pro/c.1083G>A|498|NFIA|protein_coding|CODING|NM_005595.4|8|1)","GM12878:H3K27me3,K562:H3K36me3,HUVEC:H3K9ac,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.2812,0.3761,0.2853,0.27,0.29,0.27,,,,,,,,,,,,,,,,
synonymous_variant,INADL,SILENT,NM_176877.2:p.Ile90Ile/c.270C>T,atC/atT,LOW,,0.910144,1,rs1286835,,,,,,chr1,62232031,62232031,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile90Ile/c.270C>T|1801|INADL|protein_coding|CODING|NM_176877.2|4|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9928,0.9654,0.9791,0.90,0.75,0.98,,,,,,,,,,,,,,,,
synonymous_variant,INADL,SILENT,NM_176877.2:p.Ile123Ile/c.369T>C,atT/atC,LOW,,0.25639,0.369,rs11207827,,,,,,chr1,62232130,62232130,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile123Ile/c.369T>C|1801|INADL|protein_coding|CODING|NM_176877.2|4|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1493,0.1744,0.2346,0.27,0.32,0.24,,,,,,,,,,,,,,,,
missense_variant,INADL,MISSENSE,NM_176877.2:p.Glu362Ala/c.1085A>C,gAa/gCa,MODERATE,,0.0461262,0.0248,rs1286823,0.04(D),"0.926,0.643,0.826(D,P,P)",0.895(L),-1.0900(T),,chr1,62257036,62257036,A,C,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu362Ala/c.1085A>C|1801|INADL|protein_coding|CODING|NM_176877.2|9|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0297,0.0634,0.1243,0.08,0.02,0.12,,0.000031(D),0.000(P),"2.18,2.18(T,T)",0.0013(T),0.167,1.930837,5.17,5.17,0.460000,2.173000,6.050000,0.107000,1.000000,1.000000,10.4154
missense_variant,INADL,MISSENSE,NM_176877.2:p.Ile400Val/c.1198A>G,Ata/Gta,MODERATE,COSM1126971(4),0.434904,0.4514,rs7516332,0.41(T),"0.034,0.019,0.034(B,B,B)",0.285(N),-0.9698(T),,chr1,62261168,62261168,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile400Val/c.1198A>G|1801|INADL|protein_coding|CODING|NM_176877.2|10|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6104,0.5634,0.493,0.40,0.24,0.48,,0.041412(N),0.000(P),"2.52,2.52(T,T)",0.0000(T),0.041,0.853778,5.29,-3.27,-0.336000,-0.790000,0.533000,0.675000,0.167000,0.900000,4.4158
missense_variant,INADL,MISSENSE,NM_176877.2:p.Ile870Met/c.2610T>G,atT/atG,MODERATE,,0.990815,1,rs2799627,1(T),"0.0,0.0,0.0(B,B,B)",-1.725(N),-0.9729(T),,chr1,62330080,62330080,T,G,hom,missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile870Met/c.2610T>G|1801|INADL|protein_coding|CODING|NM_176877.2|20|1),"H1ESC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.96,1.00,,0.001411(N),0.000(P),"3.03,2.95(T,T)",0.0000(T),0.212,-0.461592,5.48,4.57,-0.225000,0.703000,4.732000,0.698000,0.998000,1.000000,10.6697
synonymous_variant,INADL,SILENT,NM_176877.2:p.Asn1168Asn/c.3504C>T,aaC/aaT,LOW,COSM3751339(1),0.776957,0.7431,rs1134766,,,,,,chr1,62380270,62380270,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1168Asn/c.3504C>T|1801|INADL|protein_coding|CODING|NM_176877.2|26|1),"H1ESC:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,NHEK:H3K36me3",,,,0.6738,0.8357,0.7247,0.79,0.88,0.75,,,,,,,,,,,,,,,,
missense_variant,INADL,MISSENSE,NM_176877.2:p.Gly1178Ser/c.3532G>A,Ggt/Agt,MODERATE,,0.445088,0.5655,rs1056513,0.79(T),"0.001,0.0,0.001(B,B,B)",-0.345(N),-0.9586(T),,chr1,62380298,62380298,G,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1178Ser/c.3532G>A|1801|INADL|protein_coding|CODING|NM_176877.2|26|1),"H1ESC:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,NHEK:H3K36me3","Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits,Obesity_related_traits",,,0.5624,0.5231,0.6282,0.49,0.16,0.65,,0.073429(N),1.000(P),"2.84,2.73(T,T)",0.0000(T),0.046,-0.638842,4.69,2.27,-0.360000,0.059000,0.416000,0.013000,0.000000,0.000000,6.0221
missense_variant,INADL,MISSENSE,NM_176877.2:p.Arg1282His/c.3845G>A,cGt/cAt,MODERATE,COSM3751342(2),0.47484,0.4683,rs1134767,0.51(T),"0.005,0.003,0.002,0.003,0.001(B,B,B,B,B)",1.145(L),-0.9167(T),,chr1,62456014,62456014,G,A,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg1282His/c.3845G>A|1801|INADL|protein_coding|CODING|NM_176877.2|28|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5562,0.3199,0.4066,0.45,0.49,0.42,,0.025758(N),0.019(P),"1.7,1.7,1.7,1.7(T,T,T,T)",0.0000(T),0.038,-0.563118,5.73,-1.21,-1.632000,-0.098000,-0.174000,0.004000,0.044000,0.000000,7.2394
synonymous_variant,INADL,SILENT,NM_176877.2:p.Lys1313Lys/c.3939G>A,aaG/aaA,LOW,COSM3751344(1),0.107228,0.002,rs34726576,,,,,,chr1,62483599,62483599,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1313Lys/c.3939G>A|1801|INADL|protein_coding|CODING|NM_176877.2|29|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.137,0.147,0.2416,0.19,0.07,0.26,,,,,,,,,,,,,,,,
missense_variant,INADL,MISSENSE,NM_176877.2:p.Val1360Leu/c.4078G>C,Gtc/Ctc,MODERATE,COSM146531(1),0.570887,0.2778,rs2498982,1(T),"0.001,0.0,0.002,0.0,0.0,0.001(B,B,B,B,B,B)",-0.805(N),-0.9559(T),,chr1,62516683,62516683,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val1360Leu/c.4078G>C|1801|INADL|protein_coding|CODING|NM_176877.2|31|1),"HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6411,0.5591,0.5467,0.61,0.71,0.56,,0.997479(N),1.000(P),"2.8,2.65,3.32,2.33,1.61(T,T,T,T,T)",0.0000(T),0.041,-1.656752,4.99,-0.716,-1.838000,-0.124000,-0.401000,0.049000,0.000000,0.000000,6.6747
synonymous_variant,INADL,SILENT,NM_176877.2:p.Glu1520Glu/c.4560G>A,gaG/gaA,LOW,,0.609026,0.754,rs1475563,,,,,,chr1,62579823,62579823,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1520Glu/c.4560G>A|1801|INADL|protein_coding|CODING|NM_176877.2|35|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.5859,0.7161,0.66,0.62,0.47,0.70,,,,,,,,,,,,,,,,
synonymous_variant,INADL,SILENT,NM_176877.2:p.Ile1548Ile/c.4644C>T,atC/atT,LOW,,0.297524,0.7113,rs7418709,,,,,,chr1,62579907,62579907,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile1548Ile/c.4644C>T|1801|INADL|protein_coding|CODING|NM_176877.2|35|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.1789,0.2291,0.0696,0.15,0.26,0.09,,,,,,,,,,,,,,,,
synonymous_variant,INADL,SILENT,NM_176877.2:p.Asn1749Asn/c.5247C>T,aaC/aaT,LOW,COSM4144126(1),0.330871,0.0754,rs2476194,,,,,,chr1,62594593,62594593,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1749Asn/c.5247C>T|1801|INADL|protein_coding|CODING|NM_176877.2|41|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.545,0.4741,0.5358,0.43,0.17,0.55,,,,,,,,,,,,,,,,
missense_variant,KANK4,MISSENSE,NM_181712.4:p.Val935Leu/c.2803G>C,Gtg/Ctg,MODERATE,,0.986222,1,rs2941679,0.3(T),"0.001,0.001(B,B)",-0.94(N),-0.9955(T),,chr1,62713224,62713224,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val935Leu/c.2803G>C|995|KANK4|protein_coding|CODING|NM_181712.4|9|1),"GM06990:H3K27me3,HepG2:H3K36me3",,,,0.9744,0.9914,0.9672,0.97,0.99,0.96,,0.163006(N),1.000(P),"0.08,0.08,0.08,0.08(T,T,T,T)",0.0000(T),0.104,2.156980,4.63,2.62,-0.224000,0.560000,0.698000,0.961000,1.000000,0.938000,9.0071
synonymous_variant,KANK4,SILENT,NM_181712.4:p.His927His/c.2781C>T,caC/caT,LOW,COSM426544(3),0.31889,0.1429,rs10889315,,,,,,chr1,62713246,62713246,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His927His/c.2781C>T|995|KANK4|protein_coding|CODING|NM_181712.4|9|1),"GM06990:H3K27me3,HepG2:H3K36me3",,,,0.4008,0.3444,0.4195,0.39,0.33,0.42,,,,,,,,,,,,,,,,
missense_variant,KANK4,MISSENSE,NM_181712.4:p.Val840Ala/c.2519T>C,gTg/gCg,MODERATE,COSM4144131(1),0.715855,0.8433,rs2666472,0.22(T),"0.036,0.06(B,B)",1.34(L),-0.9615(T),,chr1,62728784,62728784,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val840Ala/c.2519T>C|995|KANK4|protein_coding|CODING|NM_181712.4|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7352,0.7882,0.7396,0.67,0.56,0.73,,0.475234(N),0.000(P),"-0.44,-0.44,-0.44(T,T,T)",0.0000(T),0.19,1.884846,5.24,-0.649,-1.476000,-0.814000,2.839000,0.833000,0.276000,1.000000,12.6625
missense_variant,KANK4,MISSENSE,NM_181712.4:p.His822Arg/c.2465A>G,cAc/cGc,MODERATE,,0.716254,0.8442,rs2258470,0.21(T),"0.0,0.0(B,B)",-0.405(N),-0.9915(T),,chr1,62728838,62728838,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His822Arg/c.2465A>G|995|KANK4|protein_coding|CODING|NM_181712.4|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7352,0.7896,0.7396,0.67,0.56,0.73,,0.278014(N),0.000(P),"-0.08,-0.08,-0.08(T,T,T)",0.0000(T),0.006,1.097021,5.24,3.02,-0.374000,0.628000,3.307000,0.273000,0.371000,1.000000,10.1096
synonymous_variant,KANK4,SILENT,NM_181712.4:p.Lys814Lys/c.2442A>G,aaA/aaG,LOW,,0.716254,0.8433,rs2260581,,,,,,chr1,62728861,62728861,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys814Lys/c.2442A>G|995|KANK4|protein_coding|CODING|NM_181712.4|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7352,0.7896,0.7396,0.67,0.56,0.73,,,,,,,,,,,,,,,,
synonymous_variant,KANK4,SILENT,NM_181712.4:p.Pro795Pro/c.2385C>T,ccC/ccT,LOW,,0.716054,0.8433,rs2262110,,,,,,chr1,62728918,62728918,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro795Pro/c.2385C>T|995|KANK4|protein_coding|CODING|NM_181712.4|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7352,0.7896,0.7396,0.67,0.56,0.73,,,,,,,,,,,,,,,,
synonymous_variant,KANK4,SILENT,NM_181712.4:p.Pro624Pro/c.1872A>G,ccA/ccG,LOW,,0.800519,0.8403,rs7516290,,,,,,chr1,62738904,62738904,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro624Pro/c.1872A>G|995|KANK4|protein_coding|CODING|NM_181712.4|3|1),"NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7628,0.7911,0.7018,0.73,0.85,0.67,,,,,,,,,,,,,,,,
synonymous_variant,KANK4,SILENT,NM_181712.4:p.Ser526Ser/c.1578C>T,agC/agT,LOW,,0.250599,0.1121,rs17855078,,,,,,chr1,62739198,62739198,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser526Ser/c.1578C>T|995|KANK4|protein_coding|CODING|NM_181712.4|3|1),"NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4325,0.2291,0.341,0.28,0.19,0.33,,,,,,,,,,,,,,,,
synonymous_variant,KANK4,SILENT,NM_181712.4:p.Gly237Gly/c.711T>C,ggT/ggC,LOW,COSM4144132(1),0.482228,0.248,rs12127930,,,,,,chr1,62740065,62740065,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly237Gly/c.711T>C|995|KANK4|protein_coding|CODING|NM_181712.4|3|1),"NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6115,0.3948,0.4394,0.49,0.61,0.43,,,,,,,,,,,,,,,,
synonymous_variant,KANK4,SILENT,NM_181712.4:p.Pro110Pro/c.330A>G,ccA/ccG,LOW,,0.804513,0.8522,rs2666506,,,,,,chr1,62740446,62740446,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro110Pro/c.330A>G|995|KANK4|protein_coding|CODING|NM_181712.4|3|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0.7648,0.7911,0.7038,0.74,0.85,0.67,,,,,,,,,,,,,,,,
synonymous_variant,KANK4,SILENT,NM_181712.4:p.Ser109Ser/c.327A>G,tcA/tcG,LOW,,0.78095,0.8522,rs2666507,,,,,,chr1,62740449,62740449,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser109Ser/c.327A>G|995|KANK4|protein_coding|CODING|NM_181712.4|3|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0.7648,0.7795,0.7038,0.71,0.77,0.67,,,,,,,,,,,,,,,,
synonymous_variant,DOCK7,SILENT,NM_001271999.1:p.Leu1679Leu/c.5035T>C,Ttg/Ctg,LOW,,0.349641,0.1815,rs10889335,,,,-1.0076(T),,chr1,62960101,62960101,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1679Leu/c.5035T>C|2129|DOCK7|protein_coding|CODING|NM_001271999.1|40|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1648Leu/c.4942T>C|2100|DOCK7|protein_coding|CODING|NM_001272000.1|39|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1648Leu/c.4942T>C|2098|DOCK7|protein_coding|CODING|NM_001272001.1|39|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1657Leu/c.4969T>C|2109|DOCK7|protein_coding|CODING|NM_033407.3|39|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4519,0.3573,0.3171,0.35,0.39,0.33,,,0.000(P),,0.0000(T),.,0.790280,5.9,-8.68,-0.353000,-1.661000,-0.049000,0.990000,0.003000,0.003000,22.854
missense_variant,ALG6,MISSENSE,NM_013339.3:p.Ser304Phe/c.911C>T,tCt/tTt,MODERATE,,0.830471,0.8571,rs4630153,0.31(T),0.001(B),,-1.0188(T),,chr1,63881552,63881552,C,T,hom,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser304Phe/c.911C>T|507|ALG6|protein_coding|CODING|NM_013339.3|11|1),,,RCV000081560.3,,0.9029,0.7608,0.6859,0.74,0.86,0.68,,0.100370(N),1.000(P),"-1.61,-1.61(D,D)",0.1847(T),0.079,-0.713021,5.06,3.91,-0.254000,0.340000,0.967000,0.578000,0.941000,0.950000,6.8595
missense_variant,ITGB3BP,MISSENSE,NM_001206739.1:p.Arg10Gly/c.28A>G,Aga/Gga,MODERATE,COSM3751349(1),0.947883,1,rs6588047,1(T),,,-0.9547(T),,chr1,63975830,63975830,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg10Gly/c.28A>G|216|ITGB3BP|protein_coding|CODING|NM_001206739.1|2|1),intron_variant(MODIFIER|||c.6-1589A>G|177|ITGB3BP|protein_coding|CODING|NM_014288.4|1|1),intron_variant(MODIFIER|||n.146-1589A>G||ITGB3BP||CODING|NR_045147.1|1|1)","K562:H3K36me3,HepG2:H3K36me3",,,,1,0.9885,0.999,,,,,,1.000(P),2.05(T),0.0047(T),0.022,-2.639035,0.807,-1.48,-1.027000,-1.386000,-0.769000,0.000000,0.000000,0.000000,5.4374
synonymous_variant,EFCAB7,SILENT,NM_032437.2:p.Asp8Asp/c.24T>C,gaT/gaC,LOW,COSM3751350(1),0.401757,0.4812,rs217478,,,,,,chr1,63991267,63991267,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp8Asp/c.24T>C|629|EFCAB7|protein_coding|CODING|NM_032437.2|2|1),,,,,0.4806,0.4741,0.326,0.32,0.33,0.32,,,,,,,,,,,,,,,,
synonymous_variant,EFCAB7,SILENT,NM_032437.2:p.Ser110Ser/c.330A>T,tcA/tcT,LOW,COSM3747044(2),0.196286,0.1855,rs9804078,,,,,,chr1,63997633,63997633,A,T,het,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser110Ser/c.330A>T|629|EFCAB7|protein_coding|CODING|NM_032437.2|3|1),HUVEC:H3K36me3,,,,0.1738,0.1715,0.1441,0.18,0.23,0.15,,,,,,,,,,,,,,,,
missense_variant,EFCAB7,MISSENSE,NM_032437.2:p.Thr248Ile/c.743C>T,aCa/aTa,MODERATE,COSM3747045(4),0.144968,0.1855,rs6693255,0.01(D),0.07(B),1.5(L),-1.0831(T),,chr1,63999826,63999826,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr248Ile/c.743C>T|629|EFCAB7|protein_coding|CODING|NM_032437.2|6|1),"HUVEC:H3K36me3,NHEK:H3K36me3",,,,0.1728,0.1614,0.1441,0.13,0.09,0.15,,0.052243(N),0.000(P),0.32(T),0.0614(T),0.097,-0.078505,5.65,1.49,-0.136000,0.744000,0.578000,0.393000,0.976000,0.160000,4.209
missense_variant,EFCAB7,MISSENSE,NM_032437.2:p.Met262Thr/c.785T>C,aTg/aCg,MODERATE,COSM3747046(4),0.28754,0.1925,rs6657480,0.77(T),0.0(B),-1.39(N),-0.9795(T),,chr1,63999868,63999868,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met262Thr/c.785T>C|629|EFCAB7|protein_coding|CODING|NM_032437.2|6|1),"HUVEC:H3K36me3,NHEK:H3K36me3",,,,0.1943,0.196,0.1491,0.27,0.48,0.16,,0.230086(N),1.000(P),0.51(T),0.0120(T),0.018,-2.489623,5.65,2.32,-0.767000,0.346000,0.268000,0.037000,0.980000,0.083000,4.47
missense_variant,EFCAB7,MISSENSE,NM_032437.2:p.Arg375Lys/c.1124G>A,aGg/aAg,MODERATE,COSM3747048(4),0.139976,0.1855,rs2273367,0.25(T),0.002(B),1.79(L),-1.0885(T),,chr1,64021096,64021096,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg375Lys/c.1124G>A|629|EFCAB7|protein_coding|CODING|NM_032437.2|9|1),,,,,0.1738,0.1585,0.1441,0.13,0.08,0.15,,0.000044(N),0.000(P),0.91(T),0.0496(T),0.04,2.196337,5.96,4.04,0.655000,0.773000,4.663000,0.997000,0.998000,1.000000,10.965
missense_variant,PGM1,MISSENSE,NM_001172818.1:p.Ile106Val/c.316A>G,Atc/Gtc,MODERATE,COSM3735977(1),0.129792,0.0109,rs855314,1(T),"0.037,0.059(B,B)",-0.53(N),-1.0488(T),,chr1,64095111,64095111,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile106Val/c.316A>G|580|PGM1|protein_coding|CODING|NM_001172818.1|2|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile88Val/c.262A>G|562|PGM1|protein_coding|CODING|NM_002633.2|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||365|PGM1|protein_coding|CODING|NM_001172819.1|2|1),5_prime_UTR_variant(MODIFIER||2252|c.-330A>G|365|PGM1|protein_coding|CODING|NM_001172819.1|2|1)","GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.1138,0.1431,0.17,0.24,0.14,,0.000003(D),0.000(P),"0.02,0.02(T,T)",0.0419(T),0.251,1.672935,5.48,5.48,0.533000,2.210000,9.210000,0.911000,0.991000,1.000000,15.8924
synonymous_variant,PGM1,SILENT,NM_001172818.1:p.Ala261Ala/c.783C>T,gcC/gcT,LOW,,,,rs139496157,,,,,,chr1,64100546,64100546,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala261Ala/c.783C>T|580|PGM1|protein_coding|CODING|NM_001172818.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala46Ala/c.138C>T|365|PGM1|protein_coding|CODING|NM_001172819.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala243Ala/c.729C>T|562|PGM1|protein_coding|CODING|NM_002633.2|5|1)","HMEC:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,ROR1,SILENT,NM_005012.3:p.Leu60Leu/c.180C>T,ctC/ctT,LOW,COSM3747050(1),0.778754,0.9415,rs1772626,,,,,,chr1,64515379,64515379,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu60Leu/c.180C>T|393|ROR1|protein_coding|CODING|NM_001083592.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu60Leu/c.180C>T|937|ROR1|protein_coding|CODING|NM_005012.3|3|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8027,0.8602,0.831,0.78,0.63,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ROR1,SILENT,NM_005012.3:p.Ala390Ala/c.1170G>T,gcG/gcT,LOW,,1,1,rs2762833,,,,,,chr1,64608329,64608329,G,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala390Ala/c.1170G>T|937|ROR1|protein_coding|CODING|NM_005012.3|7|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala390Ala/c.1170G>T|393|ROR1|protein_coding|CODING|NM_001083592.1|7|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,ROR1,SILENT,NM_005012.3:p.Val451Val/c.1353A>G,gtA/gtG,LOW,COSM3747051(3),0.345847,0.4127,rs6668545,,,,,,chr1,64624842,64624842,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val451Val/c.1353A>G|937|ROR1|protein_coding|CODING|NM_005012.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3896,0.3588,0.3966,0.32,0.23,0.37,,,,,,,,,,,,,,,,
missense_variant,ROR1,MISSENSE,NM_005012.3:p.Thr518Met/c.1553C>T,aCg/aTg,MODERATE,COSM3747052(3),0.243211,0.3115,rs7527017,0.07(T),0.532(P),0.485(N),-0.2846(T),,chr1,64643277,64643277,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr518Met/c.1553C>T|937|ROR1|protein_coding|CODING|NM_005012.3|9|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2924,0.2968,0.3549,0.25,0.08,0.33,,0.019273(N),0.000(P),-1.68(D),0.3230(T),0.134,2.410795,5.97,5.04,0.655000,1.475000,1.785000,0.970000,0.999000,0.953000,17.0082
missense_variant,CACHD1,MISSENSE,NM_020925.2:p.Met363Thr/c.1088T>C,aTg/aCg,MODERATE,,0.997804,1,rs6588100,0.51(T),0.0(B),0(N),-0.9255(T),,chr1,65113568,65113568,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met118Thr/c.353T>C|978|CACHD1|protein_coding|CODING|NM_001293274.1|8|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met363Thr/c.1088T>C|1223|CACHD1|protein_coding|CODING|NM_020925.2|9|1)","H1ESC:H3K36me3,NHEK:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.003056(N),1.000(P),"2.06,2.06(T,T)",0.0083(T),0.047,-1.246164,5.42,2.3,-0.119000,0.260000,0.770000,0.551000,0.003000,0.001000,8.775
synonymous_variant,JAK1,SILENT,NM_002227.2:p.Pro733Pro/c.2199A>G,ccA/ccG,LOW,COSM3751351(1),0.372604,0.2996,rs2230588,,,,,,chr1,65310489,65310489,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro733Pro/c.2199A>G|1154|JAK1|protein_coding|CODING|NM_002227.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2198,0.3199,0.2525,0.35,0.58,0.23,,,,,,,,,,,,,,,,
synonymous_variant,JAK1,SILENT,NM_002227.2:p.Arg659Arg/c.1977C>T,cgC/cgT,LOW,,0.0465256,0,rs17127063,,,,,,chr1,65312342,65312342,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg659Arg/c.1977C>T|1154|JAK1|protein_coding|CODING|NM_002227.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0274,0.0298,0.05,0.11,0.03,,,,,,,,,,,,,,,,
missense_variant,TCTEX1D1,MISSENSE,NM_152665.2:p.Glu49Asp/c.147A>T,gaA/gaT,MODERATE,COSM3751370(1),0.132588,0.1488,rs1060575,1(T),0.0(B),-1.98(N),-0.9455(T),,chr1,67236097,67236097,A,T,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu49Asp/c.147A>T|179|TCTEX1D1|protein_coding|CODING|NM_152665.2|3|1),,,,,0.181,0.1023,0.1511,0.12,0.09,0.14,,0.000016(N),0.999(P),2.55(T),0.0017(T),0.012,-1.141193,6.06,2.55,-1.091000,-0.032000,1.263000,0.008000,0.990000,1.000000,4.7902
splice_donor_variant,TCTEX1D1,protein_coding,NM_152665.2:c.337G>A,,HIGH,COSM3751371(1),0.130591,0.1488,rs3816989,,,,,TCTEX1D1:1.00(1);,chr1,67242087,67242087,G,A,het,"splice_donor_variant(HIGH|||c.337G>A|179|TCTEX1D1|protein_coding|CODING|NM_152665.2|4|1),intron_variant(MODIFIER|||c.336+1G>A|179|TCTEX1D1|protein_coding|CODING|NM_152665.2|4|1)","GM12878:H3K27me3,NHEK:H3K27me3",,,,0.181,0.1009,0.1511,0.12,0.08,0.14,,,0.000(P),,,.,3.528188,5.92,5.92,0.655000,2.809000,8.439000,0.672000,0.999000,1.000000,19.0921
missense_variant,INSL5,MISSENSE,NM_005478.4:p.Gln50Leu/c.149A>T,cAg/cTg,MODERATE,,0.871206,0.9901,rs549148,1(T),0.0(B),-1.665(N),-0.9008(T),,chr1,67266756,67266756,T,A,hom,missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln50Leu/c.149A>T|135|INSL5|protein_coding|CODING|NM_005478.4|1|1),HMEC:H3K27me3,,,,0.8967,0.8919,0.83,0.84,0.81,0.86,,0.090913(N),1.000(P),-2.49(D),0.0759(T),0.035,0.030974,4.49,-5.74,-2.188000,-2.118000,-0.361000,0.002000,0.000000,0.000000,6.5183
missense_variant,WDR78,MISSENSE,NM_024763.4:p.Arg832Gln/c.2495G>A,cGg/cAg,MODERATE,COSM3997640(1),0.514776,0.6419,rs482082,0.46(T),"0.002,0.003(B,B)",1.355(L),-1.0571(T),,chr1,67288045,67288045,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg832Gln/c.2495G>A|848|WDR78|protein_coding|CODING|NM_024763.4|16|1),splice_region_variant(LOW|||c.2495G>A|848|WDR78|protein_coding|CODING|NM_024763.4|16|1)",,,,,0.3497,0.5447,0.4761,0.52,0.56,0.49,,0.089483(N),0.000(P),"0.96,0.96,0.96(T,T,T)",0.0309(T),0.076,0.256417,5.23,2.34,-1.027000,0.728000,1.551000,0.020000,0.958000,0.998000,6.4519
synonymous_variant,C1orf141,SILENT,NM_001276351.1:p.Thr384Thr/c.1152G>A,acG/acA,LOW,,0.920727,0.9722,rs6588237,,,,,,chr1,67558739,67558739,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr384Thr/c.1152G>A|400|C1orf141|protein_coding|CODING|NM_001276351.1|8|1),3_prime_UTR_variant(MODIFIER||524|c.*524G>A|217|C1orf141|protein_coding|CODING|NM_001276352.1|9|1),non_coding_exon_variant(MODIFIER|||n.1466G>A||C1orf141||CODING|NR_075077.1|10|1)",HUVEC:H3K27me3,,,,0.9816,0.9107,0.8141,0.88,0.92,0.86,,,,,,,,,,,,,,,,
missense_variant,C1orf141,MISSENSE,NM_001276351.1:p.Val189Ile/c.565G>A,Gtc/Atc,MODERATE,,0.938498,0.9722,rs11208997,1(T),0.0(B),-0.975(N),-0.9126(T),,chr1,67560956,67560956,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val189Ile/c.565G>A|400|C1orf141|protein_coding|CODING|NM_001276351.1|7|1),intron_variant(MODIFIER|||c.629+979G>A|217|C1orf141|protein_coding|CODING|NM_001276352.1|8|1),intron_variant(MODIFIER|||n.917+979G>A||C1orf141||CODING|NR_075077.1|9|1)","HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.9816,0.915,0.8141,0.89,0.97,0.86,,0.051575(N),0.000(P),"2.09,2.09,2.09(T,T,T)",0.0046(T),0.198,-1.235736,5.51,4.38,-0.269000,0.462000,0.833000,0.149000,0.809000,0.997000,7.4848
missense_variant,IL23R,MISSENSE,NM_144701.2:p.Gln3His/c.9G>T,caG/caT,MODERATE,COSM3751376(1),0.530152,0.6369,rs1884444,0.48(T),0.005(B),0.69(N),-1.0293(T),,chr1,67633812,67633812,G,T,hom,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln3His/c.9G>T|629|IL23R|protein_coding|CODING|NM_144701.2|2|1),,,,,0.6207,0.3689,0.5239,0.52,0.50,0.53,,0.328617(N),1.000(P),"-1.97,-1.97(D,D)",0.1815(T),0.068,-0.002532,5.41,2.03,0.591000,1.232000,0.723000,0.002000,0.917000,0.352000,5.912
missense_variant,IL23R,MISSENSE,NM_144701.2:p.Leu310Pro/c.929T>C,cTg/cCg,MODERATE,,0.875998,0.9871,rs7530511,,,-1.04(N),-1.0665(T),,chr1,67685387,67685387,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu310Pro/c.929T>C|629|IL23R|protein_coding|CODING|NM_144701.2|7|1),"HUVEC:H3K27me3,K562:H3K36me3",,,,0.9519,0.8501,0.8569,0.83,0.76,0.87,,,1.000(P),,0.0442(T),.,-2.122214,4.88,4.88,-0.128000,1.392000,2.350000,0.020000,0.106000,0.185000,10.0697
synonymous_variant,IL12RB2,SILENT,NM_001559.2:p.Ser238Ser/c.714T>C,tcT/tcC,LOW,COSM3997645(1),0.85024,0.8056,rs1495963,,,,-1.0830(T),,chr1,67795319,67795319,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser238Ser/c.714T>C|659|IL12RB2|protein_coding|CODING|NM_001258214.1|7|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser238Ser/c.714T>C|776|IL12RB2|protein_coding|CODING|NM_001258215.1|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser238Ser/c.714T>C|635|IL12RB2|protein_coding|CODING|NM_001258216.1|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser238Ser/c.714T>C|862|IL12RB2|protein_coding|CODING|NM_001559.2|6|1),non_coding_exon_variant(MODIFIER|||n.1354T>C||IL12RB2||CODING|NR_047583.1|6|1),non_coding_exon_variant(MODIFIER|||n.1354T>C||IL12RB2||CODING|NR_047584.1|6|1)","HUVEC:H3K27me3,K562:H3K36me3",,,,0.908,0.9035,0.9771,0.91,0.76,0.99,,,1.000(P),,0.0221(T),.,-1.146760,5.2,-10.4,-1.381000,-3.252000,-2.530000,0.001000,0.000000,0.000000,8.2208
synonymous_variant,IL12RB2,SILENT,NM_001559.2:p.Thr643Thr/c.1929G>A,acG/acA,LOW,COSM3747066(2),0.413538,0.3442,rs2228420,,,,,,chr1,67852335,67852335,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr643Thr/c.1929G>A|659|IL12RB2|protein_coding|CODING|NM_001258214.1|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr557Thr/c.1671G>A|776|IL12RB2|protein_coding|CODING|NM_001258215.1|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr643Thr/c.1929G>A|862|IL12RB2|protein_coding|CODING|NM_001559.2|14|1),intron_variant(MODIFIER|||n.2337-3377G>A||IL12RB2||CODING|NR_047583.1|12|1),intron_variant(MODIFIER|||c.1855+6529G>A|635|IL12RB2|protein_coding|CODING|NM_001258216.1|13|1),non_coding_exon_variant(MODIFIER|||n.2569G>A||IL12RB2||CODING|NR_047584.1|14|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5593,0.4697,0.5845,0.46,0.23,0.57,,,,,,,,,,,,,,,,
synonymous_variant,IL12RB2,SILENT,NM_001559.2:p.Pro779Pro/c.2337C>A,ccC/ccA,LOW,COSM3997647(1),0.555112,0.3829,rs2229546,,,,,,chr1,67861520,67861520,C,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro693Pro/c.2079C>A|776|IL12RB2|protein_coding|CODING|NM_001258215.1|14|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro779Pro/c.2337C>A|862|IL12RB2|protein_coding|CODING|NM_001559.2|16|1),3_prime_UTR_variant(MODIFIER||257|c.*257C>A|659|IL12RB2|protein_coding|CODING|NM_001258214.1|16|1),3_prime_UTR_variant(MODIFIER||238|c.*238C>A|635|IL12RB2|protein_coding|CODING|NM_001258216.1|14|1),non_coding_exon_variant(MODIFIER|||n.2727C>A||IL12RB2||CODING|NR_047583.1|14|1),non_coding_exon_variant(MODIFIER|||n.3070C>A||IL12RB2||CODING|NR_047584.1|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6462,0.5879,0.675,0.61,0.51,0.67,,,,,,,,,,,,,,,,
synonymous_variant,WLS,SILENT,NM_001002292.3:p.Ala142Ala/c.426G>A,gcG/gcA,LOW,COSM3751377(2),0.349641,0.4127,rs3748705,,,,-1.0686(T),,chr1,68624878,68624878,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala142Ala/c.426G>A|543|WLS|protein_coding|CODING|NM_001002292.3|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala53Ala/c.159G>A|450|WLS|protein_coding|CODING|NM_001193334.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala144Ala/c.432G>A|541|WLS|protein_coding|CODING|NM_024911.6|3|1),intron_variant(MODIFIER|||n.1228+20745C>T||GNG12-AS1||NON_CODING|NR_040077.1|9|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3487,0.4524,0.3648,0.31,0.25,0.34,,,1.000(P),,0.0752(T),.,-1.026590,5.94,1.98,-0.810000,-0.074000,0.049000,0.041000,0.001000,0.000000,8.3848
synonymous_variant,LRRC40,SILENT,NM_017768.4:p.Pro388Pro/c.1164A>G,ccA/ccG,LOW,,0.0135783,0,rs17266340,,,,,,chr1,70625069,70625069,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro388Pro/c.1164A>G|602|LRRC40|protein_coding|CODING|NM_017768.4|10|1),"HUVEC:H3K36me3,HepG2:H3K36me3",,,,0.0164,0.0159,0.0358,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,CTH,MISSENSE,NM_001902.5:p.Ser403Ile/c.1208G>T,aGt/aTt,MODERATE,COSM4144178(1),0.205272,0.2173,rs1021737,0.12(T),"0.102,0.206,0.102(B,B,B)",0(N),-1.0949(T),,chr1,70904800,70904800,G,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser371Ile/c.1112G>T|373|CTH|protein_coding|CODING|NM_001190463.1|11|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser403Ile/c.1208G>T|405|CTH|protein_coding|CODING|NM_001902.5|12|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser359Ile/c.1076G>T|361|CTH|protein_coding|CODING|NM_153742.4|11|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000003075.1,,0.2137,0.3703,0.2584,0.24,0.11,0.30,,0.334609(N),1.000(P),"-0.65,-0.65,-0.66(T,T,T)",0.0730(T),0.293,-0.157730,4.79,0.838,-0.156000,0.308000,0.035000,0.023000,0.035000,0.000000,6.4403
missense_variant,ZRANB2,MISSENSE,NM_203350.2:p.Arg207Gly/c.619C>G,Cga/Gga,MODERATE,,0.0461262,0.003,rs11583800,0.29(T),"0.931,0.969(D,D)",0.805(L),-0.7809(T),,chr1,71536574,71536574,G,C,het,"missense_variant(MODERATE|MISSENSE|Cga/Gga|p.Arg207Gly/c.619C>G|320|ZRANB2|protein_coding|CODING|NM_005455.4|7|1),missense_variant(MODERATE|MISSENSE|Cga/Gga|p.Arg207Gly/c.619C>G|330|ZRANB2|protein_coding|CODING|NM_203350.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.0663,0.1203,0.07,0.02,0.10,,0.000109(D),0.000(P),"-0.16,-0.14(T,T)",0.2498(T),0.225,2.484245,6.06,6.06,0.650000,2.880000,6.778000,0.998000,1.000000,1.000000,20.6397
synonymous_variant,NEGR1,SILENT,NM_173808.2:p.Thr296Thr/c.888C>T,acC/acT,LOW,,0.849641,0.8472,rs1413368,,,,,,chr1,72058552,72058552,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr296Thr/c.888C>T|354|NEGR1|protein_coding|CODING|NM_173808.2|6|1),,,,,0.8978,0.928,0.996,0.90,0.70,1.00,,,,,,,,,,,,,,,,
missense_variant,LRRIQ3,MISSENSE,NM_001105659.1:p.Ala255Thr/c.763G>A,Gca/Aca,MODERATE,,0.804912,0.9573,rs1340472,1(T),0.0(B),-1.61(N),-0.9738(T),,chr1,74575182,74575182,C,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala255Thr/c.763G>A|624|LRRIQ3|protein_coding|CODING|NM_001105659.1|5|1),,,,,0.8875,0.8876,0.9085,0.82,0.59,0.93,,,1.000(P),"3.23,3.23,1.67(T,T,T)",0.0038(T),0.015,-1.380176,3.83,-1.36,-0.352000,-0.586000,-1.765000,0.010000,0.000000,0.000000,2.8495
synonymous_variant,FPGT-TNNI3K,SILENT,NM_001112808.2:p.Val89Val/c.267G>A,gtG/gtA,LOW,COSM3751380(1),0.446685,0.7391,rs792310,,,,,,chr1,74665493,74665493,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val89Val/c.267G>A|949|FPGT-TNNI3K|protein_coding|CODING|NM_001112808.2|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val89Val/c.267G>A|856|FPGT-TNNI3K|protein_coding|CODING|NM_001199327.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val89Val/c.267G>A|353|FPGT|protein_coding|CODING|NM_001199328.2|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val89Val/c.267G>A|182|FPGT|protein_coding|CODING|NM_001199329.2|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val89Val/c.267G>A|607|FPGT|protein_coding|CODING|NM_003838.4|2|1),upstream_gene_variant(MODIFIER||1622||624|LRRIQ3|protein_coding|CODING|NM_001105659.1||1)","HSMM:H3K36me3,IMR90:H3K36me3,K562:DNase1",,,,0.5532,0.389,0.4642,0.40,0.23,0.48,,,,,,,,,,,,,,,,
missense_variant,ERICH3,MISSENSE,NM_001002912.4:p.Val1528Met/c.4582G>A,Gtg/Atg,MODERATE,,0.97484,1,rs9326116,0.22(T),0.006(B),0(N),-0.9286(T),,chr1,75036812,75036812,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1528Met/c.4582G>A|1530|ERICH3|protein_coding|CODING|NM_001002912.4|14|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,0.97,0.92,1.00,,,1.000(P),2.5(T),0.0044(T),0.008,-0.261865,4.4,-6.58,-2.719000,-1.938000,-0.888000,0.000000,0.000000,0.000000,5.2534
synonymous_variant,ERICH3,SILENT,NM_001002912.4:p.Ser1183Ser/c.3549T>C,agT/agC,LOW,COSM3751381(2),0.3752,0.5843,rs12723334,,,,,,chr1,75037845,75037845,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1183Ser/c.3549T>C|1530|ERICH3|protein_coding|CODING|NM_001002912.4|14|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,HeLa-S3:Nrsf,H1ESC:Nrsf,HepG2:H3K27me3",,,,0.3855,0.3314,0.3549,0.33,0.25,0.37,,,,,,,,,,,,,,,,
missense_variant,ERICH3,MISSENSE,NM_001002912.4:p.Leu1056Val/c.3166T>G,Tta/Gta,MODERATE,COSM3751382(1),0.375799,0.5794,rs11580409,0.37(T),0.0(B),-1.1(N),-0.9001(T),,chr1,75038228,75038228,A,C,het,missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu1056Val/c.3166T>G|1530|ERICH3|protein_coding|CODING|NM_001002912.4|14|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.3916,0.33,0.3579,0.33,0.25,0.37,,,1.000(P),2.83(T),0.0032(T),0.015,-1.451229,4.47,2.51,-0.217000,0.520000,-0.554000,0.017000,0.000000,0.000000,7.4138
missense_variant,ERICH3,MISSENSE,NM_001002912.4:p.Pro264Ala/c.790C>G,Cca/Gca,MODERATE,COSM3751383(1),0.320887,0.1141,rs11210490,0.06(T),"0.572,0.893(P,P)",2.24(M),-1.0554(T),,chr1,75097426,75097426,G,C,het,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro264Ala/c.790C>G|1530|ERICH3|protein_coding|CODING|NM_001002912.4|7|1),,,,,0.3384,0.4741,0.5268,0.46,0.32,0.53,,,0.043(P),"2.43,1.98(T,T)",0.0666(T),0.164,1.209431,5.39,3.49,-0.142000,0.640000,2.431000,0.089000,0.977000,1.000000,9.8566
synonymous_variant,CRYZ,SILENT,NM_001130042.1:p.Gly18Gly/c.54G>A,ggG/ggA,LOW,,0.773562,0.7728,rs1051122,,,,,,chr1,75190452,75190452,C,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly18Gly/c.54G>A|329|CRYZ|protein_coding|CODING|NM_001130042.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly18Gly/c.54G>A|295|CRYZ|protein_coding|CODING|NM_001130043.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly18Gly/c.54G>A|329|CRYZ|protein_coding|CODING|NM_001889.3|2|1),intron_variant(MODIFIER|||c.-136-1498G>A|192|CRYZ|protein_coding|CODING|NM_001134759.1|1|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7106,0.7954,0.7455,0.77,0.81,0.74,,,,,,,,,,,,,,,,
synonymous_variant,LHX8,SILENT,NM_001001933.1:p.His283His/c.849C>T,caC/caT,LOW,COSM3997664(1),0.39397,0.2063,rs941032,,,,,,chr1,75622616,75622616,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His283His/c.849C>T|356|LHX8|protein_coding|CODING|NM_001001933.1|9|1),synonymous_variant(LOW|SILENT|caC/caT|p.His273His/c.819C>T|346|LHX8|protein_coding|CODING|NM_001256114.1|8|1)",HMEC:H3K27me3,,,,0.545,0.3026,0.3907,0.43,0.46,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SLC44A5,SILENT,NM_152697.4:p.Ser692Ser/c.2076T>C,tcT/tcC,LOW,COSM3751385(1),0.440695,0.8323,rs1948874,,,,,,chr1,75672376,75672376,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser692Ser/c.2076T>C|719|SLC44A5|protein_coding|CODING|NM_152697.4|24|1),intron_variant(MODIFIER|||c.2048-2858T>C|717|SLC44A5|protein_coding|CODING|NM_001130058.1|23|1)",HUVEC:H3K27me3,,,,0.4202,0.4669,0.3966,0.32,0.21,0.38,,,,,,,,,,,,,,,,
synonymous_variant,SLC44A5,SILENT,NM_152697.4:p.Gln552Gln/c.1656A>G,caA/caG,LOW,,0.896565,0.996,rs595009,,,,,,chr1,75681511,75681511,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln552Gln/c.1656A>G|717|SLC44A5|protein_coding|CODING|NM_001130058.1|19|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln552Gln/c.1656A>G|719|SLC44A5|protein_coding|CODING|NM_152697.4|19|1)",,,,,0.8967,0.8862,0.83,0.85,0.86,0.84,,,,,,,,,,,,,,,,
synonymous_variant,SLC44A5,SILENT,NM_152697.4:p.Val105Val/c.315G>A,gtG/gtA,LOW,COSM4144186(1),0.744609,0.9494,rs588098,,,,,,chr1,75716925,75716925,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val105Val/c.315G>A|717|SLC44A5|protein_coding|CODING|NM_001130058.1|7|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val105Val/c.315G>A|719|SLC44A5|protein_coding|CODING|NM_152697.4|7|1)",,,,,0.8067,0.7637,0.7316,0.68,0.57,0.73,,,,,,,,,,,,,,,,
synonymous_variant,ACADM,SILENT,NM_001286043.1:p.Ala112Ala/c.336G>A,gcG/gcA,LOW,,0.23103,0.0228,rs3818855,,,,,,chr1,76198785,76198785,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala112Ala/c.336G>A|454|ACADM|protein_coding|CODING|NM_001286043.1|5|1),intron_variant(MODIFIER|||c.286+178G>A|421|ACADM|protein_coding|CODING|NM_000016.5|4|1),intron_variant(MODIFIER|||c.298+178G>A|425|ACADM|protein_coding|CODING|NM_001127328.2|4|1),intron_variant(MODIFIER|||c.178+178G>A|385|ACADM|protein_coding|CODING|NM_001286042.1|3|1),intron_variant(MODIFIER|||c.-100+178G>A|232|ACADM|protein_coding|CODING|NM_001286044.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.3256,0.3231,0.32,0.29,0.33,,,,,,,,,,,,,,,,
synonymous_variant,ACADM,SILENT,NM_001286043.1:p.Val420Val/c.1260A>G,gtA/gtG,LOW,,0.174321,0.0228,rs1061337,,,,,,chr1,76227022,76227022,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val387Val/c.1161A>G|421|ACADM|protein_coding|CODING|NM_000016.5|11|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val391Val/c.1173A>G|425|ACADM|protein_coding|CODING|NM_001127328.2|11|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val351Val/c.1053A>G|385|ACADM|protein_coding|CODING|NM_001286042.1|10|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val420Val/c.1260A>G|454|ACADM|protein_coding|CODING|NM_001286043.1|12|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val198Val/c.594A>G|232|ACADM|protein_coding|CODING|NM_001286044.1|8|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,RCV000077878.1,,0.1973,0.2522,0.3002,0.25,0.16,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RABGGTB,SILENT,NM_004582.3:p.Ala202Ala/c.606A>T,gcA/gcT,LOW,,0.897165,0.7371,rs12703,,,,,,chr1,76257892,76257892,A,T,hom,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala202Ala/c.606A>T|331|RABGGTB|protein_coding|CODING|NM_004582.3|7|1),non_coding_exon_variant(MODIFIER|||n.879A>T||RABGGTB||CODING|NR_073562.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.955,0.8055,0.9374,0.95,0.97,0.94,,,,,,,,,,,,,,,,
missense_variant,MSH4,MISSENSE,NM_002440.3:p.Ala97Thr/c.289G>A,Gca/Aca,MODERATE,COSM3735981(1),0.212859,0.0228,rs5745325,1(T),0.001(B),0.975(L),-1.0463(T),,chr1,76269460,76269460,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala97Thr/c.289G>A|936|MSH4|protein_coding|CODING|NM_002440.3|2|1),,,,,0.1953,0.2032,0.3091,0.30,0.30,0.30,,0.765669(N),1.000(P),-2.23(D),0.1856(T),0.033,0.493057,4.73,0.632,-0.315000,-0.148000,0.652000,0.138000,0.190000,0.001000,5.9083
synonymous_variant,MSH4,SILENT,NM_002440.3:p.Leu525Leu/c.1575A>T,ctA/ctT,LOW,,0.792732,0.9851,rs5745449,,,,,,chr1,76344711,76344711,A,T,het,synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu525Leu/c.1575A>T|936|MSH4|protein_coding|CODING|NM_002440.3|12|1),NHEK:H3K27me3,,,,0.7935,0.7781,0.7515,0.74,0.71,0.76,,,,,,,,,,,,,,,,
synonymous_variant,PIGK,SILENT,NM_005482.2:p.Tyr124Tyr/c.372C>T,taC/taT,LOW,,0.986621,1,rs1779199,,,,,,chr1,77634948,77634948,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr124Tyr/c.372C>T|395|PIGK|protein_coding|CODING|NM_005482.2|4|1),,,,,1,0.9971,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,AK5,SILENT,NM_174858.2:p.Ala116Ala/c.348A>G,gcA/gcG,LOW,COSM3997667(1),0.115016,0.1359,rs2815311,,,,,,chr1,77759578,77759578,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala90Ala/c.270A>G|536|AK5|protein_coding|CODING|NM_012093.3|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala116Ala/c.348A>G|562|AK5|protein_coding|CODING|NM_174858.2|3|1)","HSMM:H3K36me3,IMR90:H3K36me3",,,,0.0838,0.1023,0.2038,0.16,0.08,0.21,,,,,,,,,,,,,,,,
synonymous_variant,AK5,SILENT,NM_174858.2:p.Lys203Lys/c.609G>A,aaG/aaA,LOW,,0.978834,1,rs1167206,,,,,,chr1,77763542,77763542,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys177Lys/c.531G>A|536|AK5|protein_coding|CODING|NM_012093.3|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys203Lys/c.609G>A|562|AK5|protein_coding|CODING|NM_174858.2|5|1)","GM12878:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,1,0.9899,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,NEXN,MISSENSE,NM_144573.3:p.Gly245Arg/c.733G>A,Gga/Aga,MODERATE,,0.150759,0.38,rs1166698,0.31(T),"1.0,1.0,1.0,1.0(D,D,D,D)",2.63(M),-0.2910(T),,chr1,78392446,78392446,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly181Arg/c.541G>A|611|NEXN|protein_coding|CODING|NM_001172309.1|7|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly245Arg/c.733G>A|675|NEXN|protein_coding|CODING|NM_144573.3|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:DNase1",,RCV000041182.1|RCV000127191.1,,0.0665,0.1167,0.2107,0.16,0.05,0.21,,0.000209(D),0.000(P),"-0.2,-0.12,-0.16,-0.06,-0.29(T,T,T,T,T)",0.4602(T),0.422,4.442499,5.64,5.64,0.655000,2.643000,8.915000,0.883000,1.000000,1.000000,19.6939
missense_variant,GIPC2,MISSENSE,NM_017655.4:p.Leu206Pro/c.617T>C,cTg/cCg,MODERATE,,0.307109,0.6637,rs540742,1(T),0.0(B),-2.69(N),-1.0381(T),,chr1,78585086,78585086,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu206Pro/c.617T>C|315|GIPC2|protein_coding|CODING|NM_017655.4|4|1),HepG2:H3K36me3,,,,0.2352,0.1758,0.2266,0.22,0.22,0.22,,0.000001(N),1.000(P),-1.39(T),0.0318(T),0.056,-2.457311,5.59,4.68,-0.733000,0.867000,2.060000,0.001000,0.007000,0.535000,9.1027
missense_variant,ELTD1,MISSENSE,NM_022159.3:p.Val300Leu/c.898G>T,Gta/Tta,MODERATE,COSM3751404(2),0.620607,0.7044,rs12754818,,0.001(B),-1.445(N),-0.9169(T),,chr1,79392756,79392756,C,A,hom,missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val300Leu/c.898G>T|690|ELTD1|protein_coding|CODING|NM_022159.3|8|1),HUVEC:H3K36me3,,,,0.6626,0.6844,0.6183,0.60,0.53,0.64,,0.000012(N),1.000(P),2.73(T),0.0027(T),0.096,-0.281777,6.02,3.74,-0.406000,0.187000,1.538000,0.909000,0.997000,1.000000,5.2641
synonymous_variant,LPHN2,SILENT,NM_001297704.1:p.Pro606Pro/c.1818C>T,ccC/ccT,LOW,,0.99401,1,rs11163397,0(D),,,-1.0250(T),,chr1,82421596,82421596,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro606Pro/c.1818C>T|1403|LPHN2|protein_coding|CODING|NM_001297704.1|10|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro606Pro/c.1818C>T|1177|LPHN2|protein_coding|CODING|NM_001297705.1|9|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro606Pro/c.1818C>T|1123|LPHN2|protein_coding|CODING|NM_001297706.1|9|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro606Pro/c.1818C>T|1403|LPHN2|protein_coding|CODING|NM_012302.3|9|1)",H1ESC:H3K36me3,,,,1,0.9942,1,0.99,0.98,1.00,,0.000044(D),0.000(P),2.85(T),0.0144(T),.,1.201222,5.47,-0.15,-0.516000,-0.647000,-0.448000,0.988000,0.985000,0.296000,4.7528
synonymous_variant,LPHN2,SILENT,NM_001297705.1:p.Leu1169Leu/c.3507A>G,ttA/ttG,LOW,,0.00459265,0,rs76995529,,,,,,chr1,82453022,82453022,A,G,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1169Leu/c.3507A>G|1177|LPHN2|protein_coding|CODING|NM_001297705.1|20|1),intron_variant(MODIFIER|||c.3360+2627A>G|1123|LPHN2|protein_coding|CODING|NM_001297706.1|18|1),intron_variant(MODIFIER|||c.3457+1983A>G|1403|LPHN2|protein_coding|CODING|NM_001297704.1|20|1),intron_variant(MODIFIER|||c.3457+1983A>G|1403|LPHN2|protein_coding|CODING|NM_012302.3|19|1)",H1ESC:H3K36me3,,,,0.0031,0.0014,0.0179,0.01,0.01,0.01,,,,,,,,,,,,,,,,
missense_variant,RPF1,MISSENSE,NM_025065.6:p.Ser9Gly/c.25A>G,Agc/Ggc,MODERATE,,0.490415,0.7331,rs2292191,0.48(T),0.0(B),0(N),-1.0016(T),,chr1,84944989,84944989,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser9Gly/c.25A>G|349|RPF1|protein_coding|CODING|NM_025065.6|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:Nanog,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,K562:Tr4,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,K562:FAIRE,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,GM12878:Tr4,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.4806,0.4625,0.6571,0.51,0.27,0.63,,0.108091(N),1.000(P),"0.98,1.57(T,T)",0.0185(T),0.049,-1.436253,5.35,3.35,-0.290000,0.545000,1.873000,0.058000,0.022000,0.026000,7.4489
synonymous_variant,SSX2IP,SILENT,NM_001166293.1:p.Ala586Ala/c.1758A>G,gcA/gcG,LOW,COSM3751414(1),0.76258,0.7917,rs2994949,,,,,,chr1,85113203,85113203,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala586Ala/c.1758A>G|614|SSX2IP|protein_coding|CODING|NM_001166293.1|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala559Ala/c.1677A>G|587|SSX2IP|protein_coding|CODING|NM_001166294.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala559Ala/c.1677A>G|587|SSX2IP|protein_coding|CODING|NM_001166295.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala586Ala/c.1758A>G|614|SSX2IP|protein_coding|CODING|NM_001166417.1|15|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala586Ala/c.1758A>G|614|SSX2IP|protein_coding|CODING|NM_014021.3|15|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7464,0.8588,0.8787,0.78,0.64,0.85,,,,,,,,,,,,,,,,
missense_variant,SSX2IP,MISSENSE,NM_001166293.1:p.Cys578Arg/c.1732T>C,Tgt/Cgt,MODERATE,COSM3751415(1),0.51258,0.7034,rs1057746,0.11(T),0.01(B),0.69(N),-1.0683(T),,chr1,85113229,85113229,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys578Arg/c.1732T>C|614|SSX2IP|protein_coding|CODING|NM_001166293.1|14|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys551Arg/c.1651T>C|587|SSX2IP|protein_coding|CODING|NM_001166294.1|13|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys551Arg/c.1651T>C|587|SSX2IP|protein_coding|CODING|NM_001166295.1|13|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys578Arg/c.1732T>C|614|SSX2IP|protein_coding|CODING|NM_001166417.1|15|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys578Arg/c.1732T>C|614|SSX2IP|protein_coding|CODING|NM_014021.3|15|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5174,0.5346,0.6521,0.52,0.29,0.63,,0.025466(N),0.000(P),"0.81,0.8(T,T)",0.0291(T),0.115,1.387185,5.86,2.16,0.533000,0.103000,1.041000,0.616000,0.925000,0.750000,3.5408
synonymous_variant,MCOLN3,SILENT,NM_018298.10:p.Leu383Leu/c.1149C>T,ctC/ctT,LOW,,0.796126,0.7331,rs2028304,,,,,,chr1,85488030,85488030,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu327Leu/c.981C>T|497|MCOLN3|protein_coding|CODING|NM_001253693.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu383Leu/c.1149C>T|553|MCOLN3|protein_coding|CODING|NM_018298.10|10|1)","HUVEC:H3K27me3,HMEC:H3K36me3,IMR90:H3K27me3",,,,0.8016,0.7522,0.84,0.85,0.83,0.86,,,,,,,,,,,,,,,,
missense_variant,SYDE2,MISSENSE,NM_032184.1:p.Val1157Ile/c.3469G>A,Gtt/Att,MODERATE,,0.999201,1,rs709786,1(T),0.0(B),-0.885(N),-0.9463(T),,chr1,85624549,85624549,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1157Ile/c.3469G>A|1194|SYDE2|protein_coding|CODING|NM_032184.1|7|1),HepG2:H3K36me3,,,,1,1,1,1.00,1.00,1.00,,0.000187(N),1.000(P),0.99(T),0.0092(T),0.022,-0.309985,6.17,2.56,-0.254000,-0.034000,2.146000,0.974000,0.932000,0.990000,6.744
synonymous_variant,SYDE2,SILENT,NM_032184.1:p.Leu1052Leu/c.3154C>T,Ctg/Ttg,LOW,,0.98103,1,rs817412,,,,,,chr1,85624864,85624864,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1052Leu/c.3154C>T|1194|SYDE2|protein_coding|CODING|NM_032184.1|7|1),,,,,1,0.9942,0.999,0.99,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,SYDE2,MISSENSE,NM_032184.1:p.Val569Ile/c.1705G>A,Gtt/Att,MODERATE,,0.979433,1,rs817443,1(T),"0.0,0.0(B,B)",-1.61(N),-0.9134(T),,chr1,85648620,85648620,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val569Ile/c.1705G>A|1194|SYDE2|protein_coding|CODING|NM_032184.1|3|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9942,0.999,0.98,0.95,1.00,,0.919087(N),1.000(P),3.34(T),0.0011(T),0.017,-1.680335,5.41,-1.28,-0.269000,-0.179000,0.005000,0.491000,0.981000,0.038000,7.0342
synonymous_variant,BCL10,SILENT,NM_003921.4:p.Leu8Leu/c.24C>G,ctC/ctG,LOW,COSM4144206(1),0.228235,0.0744,rs11576939,,,,,,chr1,85742012,85742012,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu8Leu/c.24C>G|233|BCL10|protein_coding|CODING|NM_003921.4|1|1),upstream_gene_variant(MODIFIER||29|||LOC646626||NON_CODING|NR_045484.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.2679,0.2032,0.3111,0.29,0.25,0.31,,,,,,,,,,,,,,,,
synonymous_variant,DDAH1,SILENT,NM_012137.3:p.Ala187Ala/c.561A>G,gcA/gcG,LOW,COSM3751420(1),0.124601,0.1567,rs2230820,,,,,,chr1,85816134,85816134,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala84Ala/c.252A>G|182|DDAH1|protein_coding|CODING|NM_001134445.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala187Ala/c.561A>G|285|DDAH1|protein_coding|CODING|NM_012137.3|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0992,0.1974,0.2038,0.15,0.05,0.20,,,,,,,,,,,,,,,,
synonymous_variant,COL24A1,SILENT,NM_152890.5:p.Pro883Pro/c.2649G>C,ccG/ccC,LOW,,0.691893,0.8026,rs1502657,,,,,,chr1,86375654,86375654,C,G,het,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro883Pro/c.2649G>C|1714|COL24A1|protein_coding|CODING|NM_152890.5|26|1),HUVEC:H3K27me3,,,,0.6718,0.7795,0.7008,0.67,0.62,0.70,,,,,,,,,,,,,,,,
missense_variant,COL24A1,MISSENSE,NM_152890.5:p.Gly657Val/c.1970G>T,gGa/gTa,MODERATE,,0.000399361,0,rs184891690,0(D),1.0(D),3.44(M),0.9982(D),,chr1,86499587,86499587,C,A,het,missense_variant(MODERATE|MISSENSE|gGa/gTa|p.Gly657Val/c.1970G>T|1714|COL24A1|protein_coding|CODING|NM_152890.5|13|1),HUVEC:H3K27me3,,,,0,0.0014,0.001,0.00,0.00,0.00,,0.001589(N),1.000(D),"-6.1,-6.1(D,D)",0.9896(D),0.952,2.761185,5.36,5.36,0.655000,2.489000,4.010000,0.993000,1.000000,1.000000,15.7911
synonymous_variant,COL24A1,SILENT,NM_152890.5:p.Ser368Ser/c.1104C>T,agC/agT,LOW,,0.964457,0.9722,rs2174767,,,,,,chr1,86590915,86590915,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser368Ser/c.1104C>T|1714|COL24A1|protein_coding|CODING|NM_152890.5|3|1),HUVEC:H3K27me3,,,,1,0.987,0.999,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,COL24A1,MISSENSE,NM_152890.5:p.Ile293Thr/c.878T>C,aTc/aCc,MODERATE,,0.0640974,0.1538,rs17128866,0.45(T),"0.037,0.007(B,B)",0(N),-0.4428(T),,chr1,86591141,86591141,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile293Thr/c.878T>C|1714|COL24A1|protein_coding|CODING|NM_152890.5|3|1),,,,,0.0491,0.0375,0.0616,0.06,0.03,0.08,,0.430736(N),1.000(P),"-3.7,-3.7(D,D)",0.3709(T),0.097,-1.391107,5.27,-0.689,0.460000,-0.024000,-0.015000,0.148000,0.000000,0.000000,2.514
missense_variant,COL24A1,MISSENSE,NM_152890.5:p.Ala61Val/c.182C>T,gCg/gTg,MODERATE,,0.645168,0.622,rs11161747,0.45(T),"0.0,0.0(B,B)",0(N),-1.0109(T),,chr1,86591837,86591837,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala61Val/c.182C>T|1714|COL24A1|protein_coding|CODING|NM_152890.5|3|1),,,,,0.6595,0.7176,0.7425,0.70,0.60,0.74,,0.285009(N),1.000(P),"-2.68,-2.64,1.31(D,D,T)",0.1846(T),0.149,0.935642,5.81,0.0319,-0.298000,0.080000,0.311000,0.922000,1.000000,0.989000,0.9609
synonymous_variant,ODF2L,SILENT,NM_001007022.2:p.Glu621Glu/c.1863A>G,gaA/gaG,LOW,,0.741214,0.8284,rs272496,,,,-1.0625(T),,chr1,86818572,86818572,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu621Glu/c.1863A>G|636|ODF2L|protein_coding|CODING|NM_001007022.2|17|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu568Glu/c.1704A>G|620|ODF2L|protein_coding|CODING|NM_001184765.1|16|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu539Glu/c.1617A>G|591|ODF2L|protein_coding|CODING|NM_001184766.1|15|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu605Glu/c.1815A>G|620|ODF2L|protein_coding|CODING|NM_020729.2|17|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7894,0.6585,0.6451,0.69,0.76,0.65,,,0.000(P),,0.0855(T),.,0.833928,5.84,2.2,-0.417000,0.539000,0.452000,0.995000,1.000000,1.000000,9.1594
synonymous_variant,ODF2L,SILENT,NM_001007022.2:p.Glu571Glu/c.1713G>A,gaG/gaA,LOW,COSM3747089(1),0.754593,0.8284,rs1182098,,,,-1.0148(T),,chr1,86820267,86820267,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu571Glu/c.1713G>A|636|ODF2L|protein_coding|CODING|NM_001007022.2|16|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu518Glu/c.1554G>A|620|ODF2L|protein_coding|CODING|NM_001184765.1|15|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu489Glu/c.1467G>A|591|ODF2L|protein_coding|CODING|NM_001184766.1|14|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu555Glu/c.1665G>A|620|ODF2L|protein_coding|CODING|NM_020729.2|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.67,0.6551,0.70,0.77,0.66,,,0.000(P),,0.0907(T),.,0.717354,6.03,-0.431,-0.285000,-0.062000,-0.014000,0.965000,0.956000,0.631000,11.9193
synonymous_variant,ODF2L,SILENT,NM_001007022.2:p.Val292Val/c.876G>A,gtG/gtA,LOW,COSM3747091(2),0.754593,0.8284,rs386591710,,,,,,chr1,86838158,86838158,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val292Val/c.876G>A|636|ODF2L|protein_coding|CODING|NM_001007022.2|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val292Val/c.876G>A|620|ODF2L|protein_coding|CODING|NM_001184765.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val292Val/c.876G>A|591|ODF2L|protein_coding|CODING|NM_001184766.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val292Val/c.876G>A|620|ODF2L|protein_coding|CODING|NM_020729.2|9|1)",,,,,0.8037,0.67,0.6551,0.70,0.77,0.66,,,,,,,,,,,,,,,,
synonymous_variant,ODF2L,SILENT,NM_001007022.2:p.Ala198Ala/c.594C>T,gcC/gcT,LOW,COSM3751422(1),0.387979,0.2897,rs272516,,,,-0.9820(T),,chr1,86847955,86847955,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala198Ala/c.594C>T|636|ODF2L|protein_coding|CODING|NM_001007022.2|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala198Ala/c.594C>T|620|ODF2L|protein_coding|CODING|NM_001184765.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala198Ala/c.594C>T|591|ODF2L|protein_coding|CODING|NM_001184766.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala198Ala/c.594C>T|620|ODF2L|protein_coding|CODING|NM_020729.2|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3",,,,0.3446,0.3977,0.326,0.38,0.50,0.31,,,0.000(P),,0.0161(T),.,-0.259949,5.4,-2.5,-0.474000,-0.131000,-0.809000,0.162000,0.995000,0.523000,0.2343
synonymous_variant,CLCA2,SILENT,NM_006536.5:p.Asn292Asn/c.876T>C,aaT/aaC,LOW,COSM3997687(1),0.234824,0.1796,rs17449526,,,,,,chr1,86900332,86900332,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn292Asn/c.876T>C|943|CLCA2|protein_coding|CODING|NM_006536.5|6|1),"HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.229,0.3228,0.3449,0.28,0.17,0.34,,,,,,,,,,,,,,,,
missense_variant,CLCA2,MISSENSE,NM_006536.5:p.Gln306Glu/c.916C>G,Cag/Gag,MODERATE,,0.234824,0.1796,rs17409304,0.06(T),0.523(P),2.815(M),-1.0974(T),,chr1,86900372,86900372,C,G,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln306Glu/c.916C>G|943|CLCA2|protein_coding|CODING|NM_006536.5|6|1),"HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.229,0.3228,0.3449,0.28,0.17,0.34,,0.000000(D),0.007(P),3.87(T),0.0182(T),0.114,4.445471,6.17,5.21,0.655000,2.941000,3.913000,0.991000,0.973000,0.997000,16.0644
synonymous_variant,CLCA2,SILENT,NM_006536.5:p.Arg596Arg/c.1788C>T,cgC/cgT,LOW,COSM3751427(1),0.254593,0.3889,rs2275001,,,,,,chr1,86913265,86913265,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg596Arg/c.1788C>T|943|CLCA2|protein_coding|CODING|NM_006536.5|11|1),"HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.365,0.2032,0.2634,0.23,0.13,0.27,,,,,,,,,,,,,,,,
synonymous_variant,CLCA2,SILENT,NM_006536.5:p.Gln842Gln/c.2526A>G,caA/caG,LOW,COSM146552(3),0.328874,0.4405,rs2390057,,,,,,chr1,86920904,86920904,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln842Gln/c.2526A>G|943|CLCA2|protein_coding|CODING|NM_006536.5|14|1),"HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.4346,0.2435,0.335,0.30,0.25,0.33,,,,,,,,,,,,,,,,
missense_variant,CLCA1,MISSENSE,NM_001285.3:p.Leu65Phe/c.193C>T,Ctt/Ttt,MODERATE,,0.882188,0.9871,rs2145412,1(T),0.0(B),-1.92(N),-0.9224(T),,chr1,86939130,86939130,C,T,hom,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu65Phe/c.193C>T|914|CLCA1|protein_coding|CODING|NM_001285.3|2|1),IMR90:H3K27me3,,,,0.9519,0.9308,0.9513,0.88,0.73,0.96,,0.000002(N),1.000(P),"3.16,3.16(T,T)",0.0014(T),0.227,-0.568543,5.56,5.56,-0.254000,1.049000,2.690000,0.619000,1.000000,1.000000,6.7993
synonymous_variant,CLCA1,SILENT,NM_001285.3:p.Val215Val/c.645A>T,gtA/gtT,LOW,COSM3747094(2),0.367612,0.505,rs1321694,,,,,,chr1,86947975,86947975,A,T,het,synonymous_variant(LOW|SILENT|gtA/gtT|p.Val215Val/c.645A>T|914|CLCA1|protein_coding|CODING|NM_001285.3|5|1),"HUVEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.4397,0.2939,0.3728,0.32,0.25,0.35,,,,,,,,,,,,,,,,
missense_variant,CLCA1,MISSENSE,NM_001285.3:p.Asn357Ser/c.1070A>G,aAt/aGt,MODERATE,COSM3747095(3),0.886981,0.8472,rs2734705,1(T),0.001(B),-0.525(N),-0.9120(T),,chr1,86952324,86952324,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn357Ser/c.1070A>G|914|CLCA1|protein_coding|CODING|NM_001285.3|7|1),"HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8916,0.9078,0.835,0.87,0.93,0.84,,0.000092(N),1.000(P),"2.78,2.78(T,T)",0.0027(T),0.015,-0.259698,5.5,4.58,-0.119000,1.336000,0.527000,0.919000,0.995000,0.999000,2.3098
missense_variant,CLCA1,MISSENSE,NM_001285.3:p.Met524Thr/c.1571T>C,aTg/aCg,MODERATE,COSM3747096(2),0.849641,0.9058,rs2791494,0.76(T),0.0(B),-1.32(N),-0.9518(T),,chr1,86959173,86959173,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met524Thr/c.1571T>C|914|CLCA1|protein_coding|CODING|NM_001285.3|10|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8998,0.8761,0.8241,0.80,0.77,0.82,,0.938044(N),1.000(P),"1.67,1.67(T,T)",0.0058(T),0.022,-2.348343,5.7,0.353,-0.226000,-0.440000,-0.146000,0.236000,0.000000,0.000000,5.3162
synonymous_variant,CLCA1,SILENT,NM_001285.3:p.Thr812Thr/c.2436T>C,acT/acC,LOW,COSM3751428(1),0.352636,0.5446,rs1882753,,,,,,chr1,86965419,86965419,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr812Thr/c.2436T>C|914|CLCA1|protein_coding|CODING|NM_001285.3|14|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4305,0.2291,0.2604,0.26,0.27,0.26,,,,,,,,,,,,,,,,
synonymous_variant,SH3GLB1,SILENT,NM_001206651.1:p.Val8Val/c.24G>A,gtG/gtA,LOW,,0.00559105,0,rs150324653,,,,,,chr1,87170606,87170606,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val8Val/c.24G>A|394|SH3GLB1|protein_coding|CODING|NM_001206651.1|1|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val8Val/c.24G>A|386|SH3GLB1|protein_coding|CODING|NM_001206652.1|1|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val8Val/c.24G>A|365|SH3GLB1|protein_coding|CODING|NM_016009.4|1|1),5_prime_UTR_variant(MODIFIER||14670|c.-135G>A|265|SH3GLB1|protein_coding|CODING|NM_001206653.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.0051,0.0058,0.0179,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,PKN2,SILENT,NM_006256.2:p.Leu141Leu/c.421T>C,Tta/Cta,LOW,COSM3997691(1),0.750599,0.6498,rs430600,,,,,,chr1,89225976,89225976,T,C,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu141Leu/c.421T>C|984|PKN2|protein_coding|CODING|NM_006256.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8292,0.5807,0.6561,0.72,0.89,0.64,,,,,,,,,,,,,,,,
missense_variant,PKN2,MISSENSE,NM_006256.2:p.Val544Met/c.1630G>A,Gtg/Atg,MODERATE,,,,rs369266668,0.12(T),"0.547,0.547,0.656,0.642(P,P,P,P)",1.7(L),-1.0844(T),,chr1,89271308,89271308,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val544Met/c.1630G>A|984|PKN2|protein_coding|CODING|NM_006256.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.001089(U),0.999(D),"1.18,1.18,1.18,1.18,1.18(T,T,T,T,T)",0.1084(T),0.448,3.905351,6.02,6.02,0.591000,2.859000,5.402000,0.998000,1.000000,1.000000,20.5269
synonymous_variant,GTF2B,SILENT,NM_001514.5:p.Leu242Leu/c.724C>T,Ctg/Ttg,LOW,,0.986022,1,rs2794318,,,,,,chr1,89322982,89322982,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu242Leu/c.724C>T|316|GTF2B|protein_coding|CODING|NM_001514.5|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CCBL2,SILENT,NM_001008661.2:p.Ser245Ser/c.735C>T,agC/agT,LOW,COSM146554(1),0.369409,0.4633,rs3738055,,,,,,chr1,89426902,89426902,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser245Ser/c.735C>T|454|CCBL2|protein_coding|CODING|NM_001008661.2|8|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser211Ser/c.633C>T|420|CCBL2|protein_coding|CODING|NM_001008662.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2536,0.5043,0.4771,0.42,0.29,0.49,,,,,,,,,,,,,,,,
missense_variant,GBP3,MISSENSE,NM_018284.2:p.Arg290Cys/c.868C>T,Cgt/Tgt,MODERATE,COSM146555(3),0.134984,0.1677,rs113490655,,"0.745,0.673(P,P)",2.73(M),-1.1131(T),,chr1,89478868,89478868,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg290Cys/c.868C>T|595|GBP3|protein_coding|CODING|NM_018284.2|6|1),splice_region_variant(LOW|||c.868C>T|595|GBP3|protein_coding|CODING|NM_018284.2|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2045,0.1513,0.1879,0.14,0.04,0.19,,0.008088(N),0.033(P),4.34(T),0.0157(T),0.308,3.680847,3.85,3.85,0.514000,2.154000,1.032000,0.401000,0.848000,0.847000,11.4749
missense_variant,GBP3,MISSENSE,NM_018284.2:p.Arg225Trp/c.673C>T,Cgg/Tgg,MODERATE,COSM3751433(3),0.333666,0.3075,rs4656077,,"0.288,0.99(B,D)",3.63(H),0.4178(D),,chr1,89479063,89479063,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg225Trp/c.673C>T|595|GBP3|protein_coding|CODING|NM_018284.2|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4888,0.2925,0.4404,0.39,0.26,0.45,,0.006009(N),1.000(P),-1.13(T),0.6308(D),0.176,3.299634,3.85,2.92,0.514000,0.940000,2.438000,0.753000,0.878000,0.989000,10.8342
missense_variant,GBP3,MISSENSE,NM_018284.2:p.Arg221Gln/c.662G>A,cGa/cAa,MODERATE,COSM3751434(3),0.333866,0.3075,rs4656078,,"0.693,0.498(P,P)",3.41(M),-0.1521(T),,chr1,89479074,89479074,C,T,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg221Gln/c.662G>A|595|GBP3|protein_coding|CODING|NM_018284.2|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4898,0.2925,0.4404,0.39,0.26,0.45,,0.096482(N),1.000(P),-1.87(D),0.5554(D),0.051,3.535117,3.85,-0.523,-0.290000,-0.185000,2.143000,0.898000,0.490000,0.307000,4.6468
missense_variant,GBP1,MISSENSE,NM_002053.2:p.Thr349Ser/c.1046C>G,aCc/aGc,MODERATE,COSM1344744(2),0.718251,0.5595,rs1048425,0.06(T),0.438(B),3.09(M),-1.1855(T),,chr1,89522646,89522646,G,C,hom,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr349Ser/c.1046C>G|592|GBP1|protein_coding|CODING|NM_002053.2|7|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8027,0.6138,0.7654,0.79,0.81,0.78,,0.000018(N),1.000(P),3.92(T),0.0199(T),0.062,2.046072,4.8,3.89,-0.323000,1.026000,2.002000,0.510000,0.995000,0.527000,12.9599
missense_variant,GBP2,MISSENSE,NM_004120.4:p.Ser303Gly/c.907A>G,Agc/Ggc,MODERATE,COSM3747098(2),0.626997,0.7758,rs2230338,0.01(D),0.018(B),3.035(M),-0.9086(T),,chr1,89579941,89579941,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser303Gly/c.907A>G|591|GBP2|protein_coding|CODING|NM_004120.4|7|1),"IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.6421,0.6801,0.6441,0.61,0.52,0.66,,0.726893(U),1.000(P),0.51(T),0.1039(T),0.104,1.679170,3.85,1.19,0.455000,0.586000,0.179000,0.717000,0.999000,0.346000,4.0821
missense_variant,GBP2,MISSENSE,NM_004120.4:p.Pro285Ala/c.853C>G,Cca/Gca,MODERATE,COSM3747099(2),0.626997,0.7758,rs1803632,0.48(T),0.004(B),0.205(N),-1.0735(T),,chr1,89582690,89582690,G,C,hom,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro285Ala/c.853C>G|591|GBP2|protein_coding|CODING|NM_004120.4|6|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3",,,,0.6421,0.6801,0.6431,0.61,0.52,0.66,,0.017550(U),1.000(P),0.66(T),0.0279(T),0.067,-2.092230,3.48,-0.655,-1.312000,-0.241000,-0.472000,0.023000,0.003000,0.002000,10.0399
missense_variant,GBP7,MISSENSE,NM_207398.2:p.Thr14Ile/c.41C>T,aCt/aTt,MODERATE,COSM3751436(1),0.714657,0.7718,rs676913,1(T),0.0(B),-3.37(N),-0.9592(T),,chr1,89637578,89637578,G,A,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr14Ile/c.41C>T|638|GBP7|protein_coding|CODING|NM_207398.2|2|1),,,,,0.6513,0.7046,0.6431,0.71,0.79,0.66,,0.100806(N),1.000(P),0.41(T),0.0052(T),0.014,-1.598286,3.81,2.68,-1.326000,0.091000,2.865000,0.034000,0.000000,0.017000,6.7814
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Glu551Gly/c.1652A>G,gAg/gGg,MODERATE,COSM3751437(1),0.357428,0.3978,rs386599180,0.07(T),0.158(B),2.25(M),-0.9311(T),,chr1,89652071,89652071,T,C,hom,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu551Gly/c.1652A>G|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.502,0.3141,0.4881,0.02,0.01,0.02,,0.858069(N),1.000(P),4.39(T),0.0038(T),0.082,1.484517,4.14,-6.34,-0.232000,-1.292000,-2.078000,0.002000,0.000000,0.000000,4.4945
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Glu551Lys/c.1651G>A,Gag/Aag,MODERATE,COSM3751438(1),0.358826,0.3978,rs561037,0.37(T),0.006(B),0.295(N),-0.9124(T),,chr1,89652072,89652072,C,T,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu551Lys/c.1651G>A|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5061,0.3141,0.4891,0.01,0.00,0.01,,0.858069(N),1.000(N),4.52(T),0.0012(T),0.072,0.196600,4.29,-4.45,-3.050000,-0.652000,-0.422000,0.000000,0.001000,0.000000,1.5862
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Leu549Met/c.1645T>A,Ttg/Atg,MODERATE,,0.359425,0.3988,rs608339,1(T),0.062(B),-0.375(N),-1.0089(T),,chr1,89652078,89652078,A,T,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu549Met/c.1645T>A|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5082,0.3141,0.4891,0.38,0.20,0.47,,0.011330(N),1.000(P),4.3(T),0.0009(T),0.031,-1.061175,4.29,-6.25,-1.750000,-1.293000,-0.767000,0.003000,0.007000,0.001000,7.3538
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Glu546Lys/c.1636G>A,Gag/Aag,MODERATE,COSM146556(3),0.359026,0.3988,rs1142890,0.84(T),0.009(B),-0.25(N),-0.9898(T),,chr1,89652087,89652087,C,T,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu546Lys/c.1636G>A|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5072,0.3141,0.4881,0.11,0.03,0.14,,0.287015(N),1.000(P),4.54(T),0.0009(T),0.056,-1.111990,4.29,-1.62,-1.199000,-0.389000,-1.801000,0.000000,0.000000,0.000000,5.5367
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Met545Ile/c.1635G>C,atG/atC,MODERATE,COSM146557(2),0.359026,0.3988,rs1142889,0.09(T),0.012(B),0.695(N),-0.9186(T),,chr1,89652088,89652088,C,G,hom,missense_variant(MODERATE|MISSENSE|atG/atC|p.Met545Ile/c.1635G>C|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5072,0.3141,0.4881,0.11,0.04,0.14,,0.203239(N),1.000(P),4.46(T),0.0019(T),0.056,0.617874,4.29,0.188,-2.487000,-0.051000,-0.051000,0.000000,0.000000,0.001000,4.9634
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Met545Leu/c.1633A>C,Atg/Ctg,MODERATE,COSM4144231(1),0.359026,0.3988,rs1142888,1(T),0.0(B),-2.68(N),-1.0000(T),,chr1,89652090,89652090,T,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met545Leu/c.1633A>C|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5072,0.3141,0.4881,0.12,0.04,0.16,,0.203239(N),1.000(P),5.43(T),0.0001(T),0.012,-1.449365,4.29,-4.6,-1.240000,-0.769000,0.415000,0.004000,0.000000,0.044000,0.8764
synonymous_variant,GBP4,SILENT,NM_052941.4:p.Ala543Ala/c.1629C>T,gcC/gcT,LOW,COSM3751439(2),0.359026,0.3988,rs1142887,,,,,,chr1,89652094,89652094,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala543Ala/c.1629C>T|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5072,0.3141,0.4881,0.23,0.08,0.30,,,,,,,,,,,,,,,,
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Met542Ile/c.1626G>A,atG/atA,MODERATE,COSM3751440(2),0.359625,0.3998,rs1142886,1(T),0.002(B),-1.76(N),-1.0243(T),,chr1,89652097,89652097,C,T,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met542Ile/c.1626G>A|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5082,0.3141,0.4891,0.26,0.10,0.34,,0.750755(N),1.000(P),0.78(T),0.0065(T),0.101,-1.318603,4.29,-7.4,-1.326000,-1.145000,-4.744000,0.031000,0.000000,0.000000,5.4902
missense_variant,GBP4,MISSENSE,NM_052941.4:p.Tyr541Asn/c.1621T>A,Tac/Aac,MODERATE,COSM3751441(2),0.359625,0.3998,rs655260,1(T),0.0(B),-3.05(N),-1.0498(T),,chr1,89652102,89652102,A,T,hom,missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr541Asn/c.1621T>A|640|GBP4|protein_coding|CODING|NM_052941.4|10|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5082,0.3141,0.4891,0.26,0.10,0.34,,0.051084(N),1.000(P),4.63(T),0.0002(T),0.017,-1.824350,4.29,0.417,-2.024000,-0.033000,0.002000,0.043000,0.002000,0.025000,6.8128
synonymous_variant,GBP5,SILENT,NM_001134486.2:p.Pro220Pro/c.660C>T,ccC/ccT,LOW,COSM3751442(2),0.14357,0.245,rs61729628,,,,,,chr1,89732237,89732237,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro220Pro/c.660C>T|586|GBP5|protein_coding|CODING|NM_001134486.2|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro220Pro/c.660C>T|586|GBP5|protein_coding|CODING|NM_052942.3|7|1)","CD4:H3K36me3,HepG2:H3K27me3",,,,0.1677,0.1441,0.1581,0.13,0.06,0.18,,,,,,,,,,,,,,,,
missense_variant,GBP6,MISSENSE,NM_198460.2:p.Ala331Ser/c.991G>T,Gct/Tct,MODERATE,,0.805911,0.7262,rs386594465,0.11(T),0.612(P),1.725(L),-0.8972(T),,chr1,89847372,89847372,G,T,hom,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala331Ser/c.991G>T|633|GBP6|protein_coding|CODING|NM_198460.2|7|1),HUVEC:H3K27me3,,,,0.7843,0.8415,0.7465,0.79,0.88,0.75,,0.288077(N),1.000(P),"4.39,4.39(T,T)",0.0046(T),0.07,1.848592,4.97,-0.0232,0.585000,0.093000,0.050000,0.269000,0.198000,0.002000,3.3515
missense_variant,GBP6,MISSENSE,NM_198460.2:p.Leu344Phe/c.1030C>T,Ctc/Ttc,MODERATE,COSM4144234(1),0.805911,0.7262,rs386594466,0.33(T),0.025(B),0.72(N),-0.9024(T),,chr1,89847411,89847411,C,T,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu344Phe/c.1030C>T|633|GBP6|protein_coding|CODING|NM_198460.2|7|1),HUVEC:H3K27me3,,,,0.7843,0.8415,0.7465,0.79,0.88,0.75,,0.790184(N),1.000(P),"4.31,4.31(T,T)",0.0025(T),0.02,-1.234974,4.75,-9.49,-3.209000,-4.167000,-2.839000,0.003000,0.000000,0.000000,20.0877
missense_variant,GBP6,MISSENSE,NM_198460.2:p.Met355Val/c.1063A>G,Atg/Gtg,MODERATE,,0.80651,0.7252,rs4658146,0.94(T),0.0(B),-2.215(N),-1.0148(T),,chr1,89847444,89847444,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met355Val/c.1063A>G|633|GBP6|protein_coding|CODING|NM_198460.2|7|1),HUVEC:H3K27me3,,,,0.7843,0.8429,0.7485,0.79,0.88,0.75,,0.389733(N),1.000(P),"4.67,4.67(T,T)",0.0003(T),0.016,-2.440817,4.75,-4.25,-2.224000,-0.835000,-2.447000,0.027000,0.000000,0.000000,3.178
missense_variant,GBP6,MISSENSE,NM_198460.2:p.Asp520Val/c.1559A>T,gAt/gTt,MODERATE,,0.860623,0.7272,rs959460,0.04(D),0.063(B),0.69(N),-1.0356(T),,chr1,89849742,89849742,A,T,hom,missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp520Val/c.1559A>T|633|GBP6|protein_coding|CODING|NM_198460.2|10|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.8517,0.9193,0.8897,0.90,0.91,0.89,,0.680089(N),1.000(P),"0.52,0.52(T,T)",0.0537(T),0.093,1.609896,4.89,3.74,0.482000,0.693000,3.707000,0.180000,0.001000,0.128000,7.5809
synonymous_variant,LRRC8B,SILENT,NM_001134476.1:p.Pro277Pro/c.831A>G,ccA/ccG,LOW,COSM3751443(1),0.161542,0.1677,rs36084789,,,,,,chr1,90049040,90049040,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro277Pro/c.831A>G|803|LRRC8B|protein_coding|CODING|NM_001134476.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro277Pro/c.831A>G|803|LRRC8B|protein_coding|CODING|NM_015350.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3037,0.1225,0.2117,0.20,0.08,0.26,,,,,,,,,,,,,,,,
missense_variant,LRRC8C,MISSENSE,NM_032270.4:p.Asp205Gly/c.614A>G,gAc/gGc,MODERATE,,0.986022,1,rs474536,0.56(T),0.0(B),-1.525(N),-0.9899(T),,chr1,90178743,90178743,A,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp205Gly/c.614A>G|803|LRRC8C|protein_coding|CODING|NM_032270.4|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.98,0.95,1.00,,0.000003(N),1.000(P),1.88(T),0.0073(T),0.244,0.950757,5.94,4.84,-0.128000,1.526000,3.262000,0.992000,1.000000,1.000000,14.0151
synonymous_variant,ZNF326,SILENT,NM_182976.2:p.Val412Val/c.1236T>G,gtT/gtG,LOW,,0.693091,0.8909,rs2816881,,,,,,chr1,90486412,90486412,T,G,het,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val412Val/c.1236T>G|582|ZNF326|protein_coding|CODING|NM_182976.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6339,0.7205,0.5736,0.59,0.66,0.56,,,,,,,,,,,,,,,,
synonymous_variant,ZNF326,SILENT,NM_182976.2:p.Glu505Glu/c.1515G>A,gaG/gaA,LOW,,0.631989,0.8899,rs10922744,,,,,,chr1,90493026,90493026,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu505Glu/c.1515G>A|582|ZNF326|protein_coding|CODING|NM_182976.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.7032,0.5706,0.54,0.50,0.56,,,,,,,,,,,,,,,,
synonymous_variant,HFM1,SILENT,NM_001017975.4:p.Ala1357Ala/c.4071C>T,gcC/gcT,LOW,,0.999201,1,rs585898,,,,-1.0689(T),,chr1,91728053,91728053,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1357Ala/c.4071C>T|1435|HFM1|protein_coding|CODING|NM_001017975.4|37|1),,,,,1,1,1,1.00,1.00,1.00,,,0.000(P),,0.0550(T),.,-0.427912,5.19,2.9,-0.482000,0.446000,2.146000,0.347000,0.861000,1.000000,6.1827
synonymous_variant,HFM1,SILENT,NM_001017975.4:p.Ile1033Ile/c.3099A>C,atA/atC,LOW,,0.762979,0.8244,rs281992,,,,,,chr1,91781413,91781413,T,G,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile1033Ile/c.3099A>C|1435|HFM1|protein_coding|CODING|NM_001017975.4|28|1),,,,,0.819,0.7233,0.6928,0.69,0.73,0.67,,,0.000(P),,,.,0.733391,5.25,4.09,0.377000,0.800000,1.237000,0.831000,1.000000,1.000000,9.4943
missense_variant,HFM1,MISSENSE,NM_001017975.4:p.Ile939Val/c.2815A>G,Ata/Gta,MODERATE,COSM3747106(1),0.125,0.005,rs11584478,0.43(T),"0.007,0.013,0.013(B,B,B)",-0.255(N),-1.0461(T),,chr1,91782031,91782031,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile939Val/c.2815A>G|1435|HFM1|protein_coding|CODING|NM_001017975.4|26|1),splice_region_variant(LOW|||c.2815A>G|1435|HFM1|protein_coding|CODING|NM_001017975.4|26|1)",,,,,0.1155,0.1571,0.2346,0.22,0.14,0.26,,0.003594(N),0.933(P),"0.22,0.22,0.22(T,T,T)",0.0285(T),0.041,0.018200,5.07,1.31,0.455000,0.254000,2.352000,0.936000,1.000000,1.000000,6.864
synonymous_variant,HFM1,SILENT,NM_001017975.4:p.Thr881Thr/c.2643C>T,acC/acT,LOW,COSM146559(3),0.236422,0.1756,rs10493845,,,,-1.0742(T),,chr1,91784887,91784887,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr881Thr/c.2643C>T|1435|HFM1|protein_coding|CODING|NM_001017975.4|24|1),,,,,0.181,0.2781,0.3072,0.31,0.27,0.33,,,0.977(P),,0.0134(T),.,-1.065163,5.0,-10.0,-1.223000,-3.005000,-1.031000,0.240000,0.000000,0.000000,4.3723
synonymous_variant,HFM1,SILENT,NM_001017975.4:p.Gln211Gln/c.633A>G,caA/caG,LOW,,0.999201,1,rs282026,,,,,,chr1,91851253,91851253,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln211Gln/c.633A>G|1435|HFM1|protein_coding|CODING|NM_001017975.4|5|1),,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,HFM1,MISSENSE,NM_001017975.4:p.Ile117Val/c.349A>G,Att/Gtt,MODERATE,,0.999201,1,rs282009,0.92(T),0.0(B),-0.895(N),-0.9723(T),,chr1,91859795,91859795,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile117Val/c.349A>G|1435|HFM1|protein_coding|CODING|NM_001017975.4|4|1),,,,,1,1,1,1.00,1.00,1.00,,,1.000(P),"0.49,1.7,1.71(T,T,T)",0.0146(T),0.05,-2.766938,4.53,1.52,-0.865000,0.131000,-0.292000,0.074000,0.248000,0.000000,6.9659
missense_variant,HFM1,MISSENSE,NM_001017975.4:p.Ser115Pro/c.343T>C,Tca/Cca,MODERATE,COSM3747107(1),0.136781,0.005,rs11165778,0.27(T),"0.0,0.0(B,B)",0.255(N),-1.0526(T),,chr1,91859801,91859801,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser115Pro/c.343T>C|1435|HFM1|protein_coding|CODING|NM_001017975.4|4|1),,,,,0.1176,0.1585,0.2356,0.23,0.18,0.26,,,1.000(P),"0.26,1.33,1.37(T,T,T)",0.0377(T),0.346,-0.707603,4.28,-2.82,-0.326000,-0.377000,-0.443000,0.069000,0.089000,0.000000,9.8673
synonymous_variant,CDC7,SILENT,NM_001134419.1:p.Thr330Thr/c.990A>G,acA/acG,LOW,COSM3747108(1),0.76897,0.7579,rs386595781,,,,,,chr1,91980447,91980447,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr330Thr/c.990A>G|574|CDC7|protein_coding|CODING|NM_001134419.1|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr330Thr/c.990A>G|574|CDC7|protein_coding|CODING|NM_001134420.1|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr330Thr/c.990A>G|574|CDC7|protein_coding|CODING|NM_003503.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7249,0.7824,0.7942,0.78,0.77,0.78,,,,,,,,,,,,,,,,
synonymous_variant,TGFBR3,SILENT,NM_003243.4:p.Thr749Thr/c.2247T>C,acT/acC,LOW,,0.906749,0.7351,rs284878,,,,,,chr1,92174260,92174260,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr748Thr/c.2244T>C|850|TGFBR3|protein_coding|CODING|NM_001195683.1|14|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr748Thr/c.2244T>C|850|TGFBR3|protein_coding|CODING|NM_001195684.1|15|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr749Thr/c.2247T>C|851|TGFBR3|protein_coding|CODING|NM_003243.4|14|1),non_coding_exon_variant(MODIFIER|||n.2859T>C||TGFBR3||CODING|NR_036634.1|15|1)","HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.953,0.9712,0.9433,0.94,0.94,0.94,,,,,,,,,,,,,,,,
synonymous_variant,TGFBR3,SILENT,NM_003243.4:p.Ala72Ala/c.216A>G,gcA/gcG,LOW,COSM3751453(1),0.715256,0.7748,rs2810904,,,,,,chr1,92262874,92262874,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala72Ala/c.216A>G|850|TGFBR3|protein_coding|CODING|NM_001195683.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala72Ala/c.216A>G|850|TGFBR3|protein_coding|CODING|NM_001195684.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala72Ala/c.216A>G|851|TGFBR3|protein_coding|CODING|NM_003243.4|3|1),non_coding_exon_variant(MODIFIER|||n.828A>G||TGFBR3||CODING|NR_036634.1|4|1)","HUVEC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6554,0.7176,0.6322,0.68,0.75,0.64,,,,,,,,,,,,,,,,
missense_variant,BRDT,MISSENSE,NM_001242806.1:p.Gln62Lys/c.184C>A,Cag/Aag,MODERATE,,0.75599,0.6141,rs10783071,0.44(T),0.0(B),0.215(N),-0.9517(T),,chr1,92428495,92428495,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln62Lys/c.184C>A|947|BRDT|protein_coding|CODING|NM_001242805.1|3|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln62Lys/c.184C>A|951|BRDT|protein_coding|CODING|NM_001242806.1|2|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln62Lys/c.184C>A|901|BRDT|protein_coding|CODING|NM_001242807.1|2|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln62Lys/c.184C>A|901|BRDT|protein_coding|CODING|NM_001242808.1|2|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln62Lys/c.184C>A|947|BRDT|protein_coding|CODING|NM_001726.3|2|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln62Lys/c.184C>A|947|BRDT|protein_coding|CODING|NM_207189.2|2|1),intron_variant(MODIFIER|||c.-27-1689C>A|874|BRDT|protein_coding|CODING|NM_001242810.1|2|1)",,,,,0.8057,0.8415,0.9235,0.86,0.70,0.94,,0.014770(N),1.000(P),"1.58,1.58,1.58,2.21,1.58,1.58,1.58,1.58,1.58,1.58,1.58(T,T,T,T,T,T,T,T,T,T,T)",0.0128(T),0.136,0.959908,5.83,2.25,-0.270000,-0.025000,1.070000,0.938000,0.001000,0.034000,6.7075
missense_variant,BRDT,MISSENSE,NM_001242806.1:p.Pro700Leu/c.2099C>T,cCg/cTg,MODERATE,,0.710064,0.6081,rs10747493,0.16(T),"0.0,0.0(B,B)",-0.345(N),-0.9128(T),,chr1,92457843,92457843,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro696Leu/c.2087C>T|947|BRDT|protein_coding|CODING|NM_001242805.1|15|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro700Leu/c.2099C>T|951|BRDT|protein_coding|CODING|NM_001242806.1|14|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro650Leu/c.1949C>T|901|BRDT|protein_coding|CODING|NM_001242807.1|13|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro650Leu/c.1949C>T|901|BRDT|protein_coding|CODING|NM_001242808.1|13|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro623Leu/c.1868C>T|874|BRDT|protein_coding|CODING|NM_001242810.1|14|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro696Leu/c.2087C>T|947|BRDT|protein_coding|CODING|NM_001726.3|14|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro696Leu/c.2087C>T|947|BRDT|protein_coding|CODING|NM_207189.2|14|1)",,,,,0.7945,0.7738,0.8429,0.78,0.63,0.86,,0.441804(N),1.000(P),"3.33,3.34,3.33,3.39,3.33(T,T,T,T,T)",0.0026(T),0.093,-1.498000,2.7,0.0309,-0.550000,-0.347000,-0.908000,0.003000,0.000000,0.000000,2.4313
synonymous_variant,KIAA1107,SILENT,NM_015237.2:p.Lys489Lys/c.1467G>A,aaG/aaA,LOW,COSM3747110(1),0.710863,0.9732,rs1483022,,,,,,chr1,92646021,92646021,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys489Lys/c.1467G>A|1354|KIAA1107|protein_coding|CODING|NM_015237.2|8|1),"IMR90:H3K36me3,CD4:H3K36me3",,,,0.7474,0.6066,0.6223,,,,,,,,,,,,,,,,,,,
missense_variant,KIAA1107,MISSENSE,NM_015237.2:p.Asn890Ser/c.2669A>G,aAt/aGt,MODERATE,COSM3747113(1),0.83127,0.9752,rs560389,0.88(T),0.0(B),-0.55(N),-0.9248(T),,chr1,92647223,92647223,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn890Ser/c.2669A>G|1354|KIAA1107|protein_coding|CODING|NM_015237.2|8|1),"IMR90:H3K36me3,CD4:H3K36me3",,,,0.772,0.6614,0.6779,0.75,0.92,0.68,,0.094037(N),1.000(P),"3.6,3.6(T,T)",0.0016(T),0.004,-1.269933,5.79,3.6,-0.119000,0.815000,1.500000,0.873000,0.938000,0.988000,5.7737
missense_variant,KIAA1107,MISSENSE,NM_015237.2:p.Thr993Asn/c.2978C>A,aCt/aAt,MODERATE,,0.995607,1,rs565156,0.34(T),0.015(B),,-0.9494(T),,chr1,92647532,92647532,C,A,hom,missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr993Asn/c.2978C>A|1354|KIAA1107|protein_coding|CODING|NM_015237.2|8|1),"IMR90:H3K36me3,CD4:H3K36me3",,,,1,0.9899,0.9861,0.99,1.00,0.98,,0.007049(N),0.960(P),"3.24,3.25(T,T)",0.0071(T),0.015,0.968531,5.79,3.82,-1.339000,0.298000,1.620000,0.937000,0.856000,0.995000,12.4611
missense_variant,KIAA1107,MISSENSE,NM_015237.2:p.Phe1028Val/c.3082T>G,Ttt/Gtt,MODERATE,,0.0315495,0.001,rs17578364,0.44(T),0.002(B),-0.345(N),-0.9087(T),,chr1,92647636,92647636,T,G,het,missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe1028Val/c.3082T>G|1354|KIAA1107|protein_coding|CODING|NM_015237.2|8|1),"IMR90:H3K36me3,CD4:H3K36me3",,,,0.0542,0.0692,0.0497,0.05,0.02,0.06,,0.101775(N),1.000(N),"3.7,3.7(T,T)",0.0021(T),0.046,-0.257332,6.06,4.15,0.533000,0.835000,0.038000,0.415000,0.013000,0.000000,6.2572
synonymous_variant,GFI1,SILENT,NM_001127215.1:p.Cys155Cys/c.465C>T,tgC/tgT,LOW,,0.91893,0.9752,rs11164605,,,,,,chr1,92946479,92946479,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys155Cys/c.465C>T|422|GFI1|protein_coding|CODING|NM_001127215.1|4|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys155Cys/c.465C>T|422|GFI1|protein_coding|CODING|NM_001127216.1|4|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys155Cys/c.465C>T|422|GFI1|protein_coding|CODING|NM_005263.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.9611,0.889,0.8091,0.85,0.93,0.81,,,,,,,,,,,,,,,,
synonymous_variant,EVI5,SILENT,NM_005665.4:p.Gly764Gly/c.2292T>C,ggT/ggC,LOW,COSM4144254(1),0.920327,0.9752,rs6603979,,,,,,chr1,92979354,92979354,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly764Gly/c.2292T>C|810|EVI5|protein_coding|CODING|NM_005665.4|18|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.9601,0.8905,0.8072,0.84,0.92,0.79,,,,,,,,,,,,,,,,
synonymous_variant,EVI5,SILENT,NM_005665.4:p.Gln563Gln/c.1689A>G,caA/caG,LOW,,0.949081,0.9752,rs7514716,,,,,,chr1,93089823,93089823,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln563Gln/c.1689A>G|810|EVI5|protein_coding|CODING|NM_005665.4|14|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9683,0.9395,0.9026,0.91,0.94,0.90,,,,,,,,,,,,,,,,
missense_variant,EVI5,MISSENSE,NM_005665.4:p.Ile336Val/c.1006A>G,Att/Gtt,MODERATE,,0.95028,0.9752,rs2391199,0.82(T),"0.003,0.006(B,B)",0.245(N),-0.9354(T),,chr1,93160902,93160902,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile336Val/c.1006A>G|810|EVI5|protein_coding|CODING|NM_005665.4|7|1),"NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9683,0.9452,0.9056,0.91,0.94,0.90,,0.022898(N),0.012(P),"2.01,2.01,2.01(T,T,T)",0.0079(T),0.072,-0.207922,5.94,2.3,0.455000,0.494000,-0.276000,0.912000,1.000000,0.002000,7.9686
missense_variant,MTF2,MISSENSE,NM_007358.3:p.Cys140Ser/c.419G>C,tGc/tCc,MODERATE,,0.999201,1,rs2815427,1(T),"0.0,0.0(B,B)",-2.095(N),-0.9929(T),,chr1,93580581,93580581,G,C,hom,"missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys38Ser/c.113G>C|491|MTF2|protein_coding|CODING|NM_001164391.1|6|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys140Ser/c.419G>C|536|MTF2|protein_coding|CODING|NM_001164392.1|5|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys38Ser/c.113G>C|491|MTF2|protein_coding|CODING|NM_001164393.1|3|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys140Ser/c.419G>C|593|MTF2|protein_coding|CODING|NM_007358.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000027(N),1.000(P),"-1.69,-1.69,-1.69,-1.69(D,D,D,D)",0.0634(T),0.107,0.426488,5.23,5.23,-0.215000,1.210000,3.729000,0.994000,1.000000,1.000000,15.9966
missense_variant,TMED5,MISSENSE,NM_016040.4:p.Thr175Ile/c.524C>T,aCt/aTt,MODERATE,,0.490415,0.6438,rs1060622,0.06(T),0.71(P),2.9(M),-1.0341(T),,chr1,93620393,93620393,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr175Ile/c.524C>T|229|TMED5|protein_coding|CODING|NM_016040.4|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn191Asn/c.573C>T|193|TMED5|protein_coding|CODING|NM_001167830.1|5|1),non_coding_exon_variant(MODIFIER|||n.1042C>T||TMED5||CODING|NR_030761.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6912,0.5836,0.6302,0.47,0.17,0.63,,0.000000(D),0.000(P),2.36(T),0.0589(T),0.156,4.543293,5.9,3.94,0.655000,1.510000,7.850000,0.952000,0.997000,1.000000,10.8543
missense_variant,CCDC18,MISSENSE,NM_206886.4:p.Asn326Thr/c.977A>C,aAt/aCt,MODERATE,,0.748003,0.9623,rs2815413,,,1.905(M),-1.0322(T),,chr1,93672723,93672723,A,C,het,missense_variant(MODERATE|MISSENSE|aAt/aCt|p.Asn326Thr/c.977A>C|1299|CCDC18|protein_coding|CODING|NM_206886.4|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9652,0.8415,0.8052,0.70,0.42,0.82,,,0.000(P),,0.0210(T),.,2.210835,5.83,4.58,0.454000,0.915000,1.754000,0.884000,1.000000,1.000000,8.4598
missense_variant,CCDC18,MISSENSE,NM_206886.4:p.Pro490His/c.1469C>A,cCt/cAt,MODERATE,,0.000399361,0,rs200273930,,,1.955(M),-0.9347(T),,chr1,93677792,93677792,C,A,het,missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro490His/c.1469C>A|1299|CCDC18|protein_coding|CODING|NM_206886.4|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0,0,0.002,0.00,0.00,0.00,,,1.000(D),,0.1924(T),.,3.164535,5.62,5.62,0.563000,2.628000,3.405000,0.992000,1.000000,1.000000,19.6603
synonymous_variant,DNTTIP2,SILENT,NM_014597.4:p.Phe580Phe/c.1740T>C,ttT/ttC,LOW,,0.533746,0.621,rs2273165,,,,,,chr1,94341267,94341267,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe580Phe/c.1740T>C|756|DNTTIP2|protein_coding|CODING|NM_014597.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6237,0.4337,0.4225,0.46,0.51,0.43,,,,,,,,,,,,,,,,
missense_variant,DNTTIP2,MISSENSE,NM_014597.4:p.Glu309Asp/c.927G>T,gaG/gaT,MODERATE,,0.344848,0.5565,rs3747965,0.18(T),0.005(B),1.78(L),-0.9768(T),,chr1,94342564,94342564,C,A,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu309Asp/c.927G>T|756|DNTTIP2|protein_coding|CODING|NM_014597.4|2|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.5133,0.33,0.325,0.27,0.14,0.34,,0.813102(N),1.000(P),1.97(T),0.0185(T),0.021,0.589308,4.83,0.373,-0.345000,-0.083000,-1.753000,0.292000,0.001000,0.000000,4.5422
synonymous_variant,DNTTIP2,SILENT,NM_014597.4:p.Pro156Pro/c.468T>C,ccT/ccC,LOW,COSM3997710(1),0.436901,0.5585,rs2391322,,,,,,chr1,94343023,94343023,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro156Pro/c.468T>C|756|DNTTIP2|protein_coding|CODING|NM_014597.4|2|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.5266,0.3718,0.3499,0.36,0.38,0.36,,,,,,,,,,,,,,,,
synonymous_variant,DNTTIP2,SILENT,NM_014597.4:p.Glu86Glu/c.258A>G,gaA/gaG,LOW,COSM3747119(1),0.759185,0.7857,rs3789457,,,,,,chr1,94343233,94343233,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu86Glu/c.258A>G|756|DNTTIP2|protein_coding|CODING|NM_014597.4|2|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.7301,0.8069,0.662,0.73,0.79,0.70,,,,,,,,,,,,,,,,
synonymous_variant,ABCA4,SILENT,NM_000350.2:p.Ile2023Ile/c.6069T>C,atT/atC,LOW,COSM3997712(1),0.769968,0.8968,rs1762114,,,,,,chr1,94471075,94471075,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile2023Ile/c.6069T>C|2273|ABCA4|protein_coding|CODING|NM_000350.2|44|1),HUVEC:H3K27me3,,,,0.907,0.9006,0.9394,0.78,0.47,0.93,,,,,,,,,,,,,,,,
missense_variant,ABCA4,MISSENSE,NM_000350.2:p.Arg943Gln/c.2828G>A,cGg/cAg,MODERATE,,0.0153754,0,,0.16(T),"0.163,0.012(B,B)",0.855(L),-0.4814(T),,chr1,94512565,94512565,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg943Gln/c.2828G>A|2273|ABCA4|protein_coding|CODING|NM_000350.2|19|1),HUVEC:H3K4me1,,RCV000008374.1|RCV000008375.1|RCV000085512.2,,0.0317,0.0086,0.0368,0.03,0.01,0.04,,0.002764(N),1.000(N),"-3.26,-2.81(D,D)",0.4289(T),0.366,1.512669,5.62,3.54,0.655000,1.294000,1.065000,0.372000,0.992000,0.767000,7.5546
missense_variant,ABCA4,MISSENSE,NM_000350.2:p.His423Arg/c.1268A>G,cAc/cGc,MODERATE,COSM3735987(1),0.220847,0.254,rs3112831,0.39(T),"0.0,0.0(B,B)",-2.255(N),-1.0695(T),,chr1,94544234,94544234,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His423Arg/c.1268A>G|2273|ABCA4|protein_coding|CODING|NM_000350.2|10|1),,,"RCV000085383.2,RCV000085382.1",,0.1769,0.3026,0.2913,0.26,0.17,0.31,,0.000000(N),0.000(P),"-1.74,-1.74(D,D)",0.0755(T),0.443,1.795287,5.49,5.49,-0.215000,1.341000,2.204000,0.141000,0.222000,0.950000,14.5395
synonymous_variant,ABCA4,SILENT,NM_000350.2:p.Pro47Pro/c.141A>G,ccA/ccG,LOW,,0.987021,1,rs4847281,,,,,,chr1,94578548,94578548,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro47Pro/c.141A>G|2273|ABCA4|protein_coding|CODING|NM_000350.2|2|1),"GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000085396.1,,1,0.9957,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,ARHGAP29,MISSENSE,NM_004815.3:p.Gly1255Asp/c.3764G>A,gGt/gAt,MODERATE,,0.94389,1,rs1999272,0.38(T),0.0(B),-1.445(N),-0.9467(T),,chr1,94639447,94639447,C,T,hom,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly1255Asp/c.3764G>A|1261|ARHGAP29|protein_coding|CODING|NM_004815.3|23|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9827,0.998,0.94,0.84,1.00,,0.001223(N),0.000(P),2.18(T),0.0052(T),0.076,-0.236897,5.88,4.69,-0.332000,1.057000,1.988000,0.795000,1.000000,1.000000,7.524
synonymous_variant,ABCD3,SILENT,NM_002858.3:p.Lys54Lys/c.162G>A,aaG/aaA,LOW,COSM3751462(1),0.279952,0.1994,rs16946,,,,,,chr1,94930345,94930345,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys54Lys/c.162G>A|236|ABCD3|protein_coding|CODING|NM_001122674.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys54Lys/c.162G>A|659|ABCD3|protein_coding|CODING|NM_002858.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2986,0.3919,0.502,0.37,0.16,0.48,,,,,,,,,,,,,,,,
synonymous_variant,F3,SILENT,NM_001993.4:p.Pro111Pro/c.333T>G,ccT/ccG,LOW,,0.982628,1,rs698946,,,,,,chr1,95001600,95001600,A,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro111Pro/c.333T>G|238|F3|protein_coding|CODING|NM_001178096.1|3|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro111Pro/c.333T>G|295|F3|protein_coding|CODING|NM_001993.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,1,0.9957,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,SLC44A3,MISSENSE,NM_001114106.2:p.Val438Ile/c.1312G>A,Gtt/Att,MODERATE,COSM4165352(1),0.754593,0.9831,rs859098,0.09(T),"0.056,0.366,0.056,0.056,0.02(B,B,B,B,B)",1.87(L),-1.1033(T),,chr1,95330372,95330372,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val438Ile/c.1312G>A|653|SLC44A3|protein_coding|CODING|NM_001114106.2|11|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val438Ile/c.1312G>A|652|SLC44A3|protein_coding|CODING|NM_001258340.1|11|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val406Ile/c.1216G>A|620|SLC44A3|protein_coding|CODING|NM_001258341.1|11|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val402Ile/c.1204G>A|617|SLC44A3|protein_coding|CODING|NM_001258342.1|10|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val370Ile/c.1108G>A|585|SLC44A3|protein_coding|CODING|NM_001258343.1|10|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val358Ile/c.1072G>A|573|SLC44A3|protein_coding|CODING|NM_001301079.1|10|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val390Ile/c.1168G>A|605|SLC44A3|protein_coding|CODING|NM_152369.4|10|1)","IMR90:H2BK120ac,NH-A:H3K4me1,HSMM:H3K27ac,HSMM:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,IMR90:H2BK12ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:H3K27me3,NHEK:H3K4me2,HUVEC:H3K4me1,IMR90:H3K18ac",,,,0.8149,0.8141,0.7813,0.68,0.55,0.75,,0.027379(N),1.000(P),"2.26,2.26,2.26,2.26,2.26,2.26(T,T,T,T,T,T)",0.0297(T),0.056,1.269144,5.63,5.63,0.655000,2.644000,3.330000,0.139000,0.013000,0.983000,13.912
missense_variant,RWDD3,MISSENSE,NM_015485.4:p.Val47Ala/c.140T>C,gTg/gCg,MODERATE,,0.984625,1,rs259358,0.79(T),"0.001,0.001,0.002,0.0(B,B,B,B)",-1.06(N),-0.9784(T),,chr1,95709821,95709821,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val47Ala/c.140T>C|200|RWDD3|protein_coding|CODING|NM_001199682.1|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val32Ala/c.95T>C|185|RWDD3|protein_coding|CODING|NM_001278247.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val32Ala/c.95T>C|252|RWDD3|protein_coding|CODING|NM_001278248.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val47Ala/c.140T>C|267|RWDD3|protein_coding|CODING|NM_015485.4|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val47Ala/c.140T>C|195|RWDD3|protein_coding|CODING|NM_001128142.1|2|1),3_prime_UTR_variant(MODIFIER||15|c.*15T>C|201|TMEM56-RWDD3|protein_coding|CODING|NM_001199691.1|8|1),intron_variant(MODIFIER|||n.196-300T>C||RWDD3||CODING|NR_103484.1|2|1),non_coding_exon_variant(MODIFIER|||n.216T>C||RWDD3||CODING|NR_103483.1|2|1)","GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.99,0.96,1.00,,0.507115(N),1.000(P),"2.03,2.03,2.03(T,T,T)",0.0036(T),0.075,-1.122915,5.27,-9.18,-1.110000,-1.758000,-0.506000,0.115000,0.000000,0.016000,7.487
missense_variant,RWDD3,MISSENSE,NM_015485.4:p.Asn86Lys/c.258T>G,aaT/aaG,MODERATE,,0.817292,0.8036,rs2296308,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-2.47(N),-0.9991(T),,chr1,95709939,95709939,T,G,het,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn86Lys/c.258T>G|200|RWDD3|protein_coding|CODING|NM_001199682.1|2|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn71Lys/c.213T>G|185|RWDD3|protein_coding|CODING|NM_001278247.1|3|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn71Lys/c.213T>G|252|RWDD3|protein_coding|CODING|NM_001278248.1|3|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn86Lys/c.258T>G|267|RWDD3|protein_coding|CODING|NM_015485.4|2|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn86Lys/c.258T>G|195|RWDD3|protein_coding|CODING|NM_001128142.1|2|1),3_prime_UTR_variant(MODIFIER||133|c.*133T>G|201|TMEM56-RWDD3|protein_coding|CODING|NM_001199691.1|8|1),intron_variant(MODIFIER|||n.196-182T>G||RWDD3||CODING|NR_103484.1|2|1),non_coding_exon_variant(MODIFIER|||n.334T>G||RWDD3||CODING|NR_103483.1|2|1)","GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9346,0.8487,0.8728,0.82,0.72,0.87,,0.000028(N),1.000(P),"2.14,2.14,2.14(T,T,T)",0.0021(T),0.032,-2.767853,5.27,-1.54,-2.910000,-1.171000,-0.125000,0.010000,0.001000,0.726000,9.0636
synonymous_variant,PTBP2,SILENT,NM_001300987.1:p.Asn98Asn/c.294C>T,aaC/aaT,LOW,,,,,,,,,,chr1,97235404,97235404,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn87Asn/c.261C>T|537|PTBP2|protein_coding|CODING|NM_001300985.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn95Asn/c.285C>T|540|PTBP2|protein_coding|CODING|NM_001300986.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn98Asn/c.294C>T|548|PTBP2|protein_coding|CODING|NM_001300987.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn87Asn/c.261C>T|536|PTBP2|protein_coding|CODING|NM_001300988.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn87Asn/c.261C>T|532|PTBP2|protein_coding|CODING|NM_001300989.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn35Asn/c.105C>T|480|PTBP2|protein_coding|CODING|NM_001300990.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn87Asn/c.261C>T|531|PTBP2|protein_coding|CODING|NM_021190.3|4|1),non_coding_exon_variant(MODIFIER|||n.413C>T||PTBP2||CODING|NR_125356.1|4|1),non_coding_exon_variant(MODIFIER|||n.521C>T||PTBP2||CODING|NR_125357.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,DPYD,MISSENSE,NM_000110.3:p.Arg29Cys/c.85C>T,Cgt/Tgt,MODERATE,COSM3735988(1),0.739816,0.9137,rs1801265,0.18(T),0.663(P),,-0.1258(T),,chr1,98348885,98348885,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg29Cys/c.85C>T|1025|DPYD|protein_coding|CODING|NM_000110.3|2|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg29Cys/c.85C>T|173|DPYD|protein_coding|CODING|NM_001160301.1|2|1)",HSMM:H3K36me3,,"RCV000000464.1,RCV000086506.1",,0.7342,0.7752,0.7853,0.72,0.60,0.78,,0.005662(N),0.000(P),"-1.59,-1.59(D,D)",0.4559(T),0.478,3.585293,5.84,5.84,0.557000,2.763000,2.235000,0.907000,0.997000,0.515000,12.5921
synonymous_variant,SNX7,SILENT,NM_015976.4:p.Ser35Ser/c.105T>C,agT/agC,LOW,COSM4144273(2),0.995407,1,rs9728148,,,,,,chr1,99127392,99127392,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser35Ser/c.105T>C|451|SNX7|protein_coding|CODING|NM_015976.4|1|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser35Ser/c.105T>C|396|SNX7|protein_coding|CODING|NM_152238.3|1|1),non_coding_exon_variant(MODIFIER|||n.157T>C||SNX7||CODING|NR_033716.1|1|1)","NHEK:H3K9ac,HSMM:H2AZ,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:Yy1,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,0.9971,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,SNX7,SILENT,NM_015976.4:p.Glu337Glu/c.1011G>A,gaG/gaA,LOW,,0.217652,0.0595,rs386603648,,,,,,chr1,99164434,99164434,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu337Glu/c.1011G>A|451|SNX7|protein_coding|CODING|NM_015976.4|6|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu282Glu/c.846G>A|396|SNX7|protein_coding|CODING|NM_152238.3|5|1),non_coding_exon_variant(MODIFIER|||n.1183G>A||SNX7||CODING|NR_033716.1|7|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3006,0.2781,0.2654,0.27,0.22,0.29,,,,,,,,,,,,,,,,
synonymous_variant,SNX7,SILENT,NM_015976.4:p.Glu432Glu/c.1296G>A,gaG/gaA,LOW,,0.875399,0.6657,rs2019213,,,,,,chr1,99225627,99225627,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu432Glu/c.1296G>A|451|SNX7|protein_coding|CODING|NM_015976.4|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu377Glu/c.1131G>A|396|SNX7|protein_coding|CODING|NM_152238.3|8|1),non_coding_exon_variant(MODIFIER|||n.1315G>A||SNX7||CODING|NR_033716.1|9|1)",,,,,0.9663,0.9078,0.9871,0.96,0.90,0.99,,,,,,,,,,,,,,,,
missense_variant,FRRS1,MISSENSE,NM_001013660.2:p.Met555Ile/c.1665G>A,atG/atA,MODERATE,,0.161542,0.0853,rs12145706,0.37(T),,,-1.0196(T),,chr1,100174670,100174670,C,T,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met555Ile/c.1665G>A|626|FRRS1|protein_coding|CODING|NM_001013660.2|17|1),intron_variant(MODIFIER|||n.28+3816G>A||MIR548D1||NON_CODING|NR_030382.1|1|1),intron_variant(MODIFIER|||n.17-3816C>T||MIR548AA1||NON_CODING|NR_037516.1|2|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.047,0.0605,0.0388,0.14,0.36,0.04,,,0.998(P),,0.0230(T),0.045,0.795358,5.43,1.41,-0.321000,0.254000,0.021000,0.958000,0.990000,0.039000,0.9891
synonymous_variant,FRRS1,SILENT,NM_001013660.2:p.Gln251Gln/c.753G>A,caG/caA,LOW,COSM3996704(2),0.558307,0.3909,rs7537296,,,,,,chr1,100203648,100203648,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln251Gln/c.753G>A|626|FRRS1|protein_coding|CODING|NM_001013660.2|7|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5184,0.4928,0.3082,0.51,0.84,0.34,,,,,,,,,,,,,,,,
synonymous_variant,FRRS1,SILENT,NM_001013660.2:p.Ser236Ser/c.708C>T,agC/agT,LOW,COSM3996705(1),0.558307,0.3909,rs7514021,,,,,,chr1,100203693,100203693,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser236Ser/c.708C>T|626|FRRS1|protein_coding|CODING|NM_001013660.2|7|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5184,0.4928,0.3082,0.51,0.84,0.34,,,,,,,,,,,,,,,,
missense_variant,AGL,MISSENSE,NM_000028.2:p.Gln229Arg/c.686A>G,cAg/cGg,MODERATE,,0.0483227,0.0288,rs17121403,0.66(T),"0.001,0.001,0.0(B,B,B)",0.125(N),-1.0076(T),,chr1,100335977,100335977,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln229Arg/c.686A>G|1532|AGL|protein_coding|CODING|NM_000028.2|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln229Arg/c.686A>G|1532|AGL|protein_coding|CODING|NM_000642.2|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln229Arg/c.686A>G|1532|AGL|protein_coding|CODING|NM_000643.2|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln229Arg/c.686A>G|1532|AGL|protein_coding|CODING|NM_000644.2|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln212Arg/c.635A>G|1515|AGL|protein_coding|CODING|NM_000645.2|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln213Arg/c.638A>G|1516|AGL|protein_coding|CODING|NM_000646.2|6|1)",,Pulmonary_function_decline,,,0.0153,0.0778,0.0119,0.04,0.09,0.02,,0.009224(N),0.987(N),"-1.74,-1.74,-1.74,-1.74,-1.74,-1.74,-1.74(D,D,D,D,D,D,D)",0.1018(T),0.04,0.129685,5.37,4.23,0.477000,0.943000,1.669000,0.994000,0.996000,0.282000,3.3885
synonymous_variant,AGL,SILENT,NM_000028.2:p.Leu298Leu/c.894C>T,ctC/ctT,LOW,,0.76258,0.6835,rs2230306,,,,,,chr1,100336361,100336361,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu298Leu/c.894C>T|1532|AGL|protein_coding|CODING|NM_000028.2|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu298Leu/c.894C>T|1532|AGL|protein_coding|CODING|NM_000642.2|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu298Leu/c.894C>T|1532|AGL|protein_coding|CODING|NM_000643.2|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu298Leu/c.894C>T|1532|AGL|protein_coding|CODING|NM_000644.2|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu281Leu/c.843C>T|1515|AGL|protein_coding|CODING|NM_000645.2|5|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu282Leu/c.846C>T|1516|AGL|protein_coding|CODING|NM_000646.2|7|1)",,,,,0.7454,0.7017,0.6759,0.77,0.91,0.70,,,,,,,,,,,,,,,,
missense_variant,AGL,MISSENSE,NM_000028.2:p.Gly1115Arg/c.3343G>A,Gga/Aga,MODERATE,,0.0884585,0.1935,rs2230307,0(D),"0.996,0.996,0.999(D,D,D)",2.79(M),0.3675(D),,chr1,100361925,100361925,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1115Arg/c.3343G>A|1532|AGL|protein_coding|CODING|NM_000028.2|25|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1115Arg/c.3343G>A|1532|AGL|protein_coding|CODING|NM_000642.2|25|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1115Arg/c.3343G>A|1532|AGL|protein_coding|CODING|NM_000643.2|25|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1115Arg/c.3343G>A|1532|AGL|protein_coding|CODING|NM_000644.2|25|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1098Arg/c.3292G>A|1515|AGL|protein_coding|CODING|NM_000645.2|23|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1099Arg/c.3295G>A|1516|AGL|protein_coding|CODING|NM_000646.2|25|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0562,0.1412,0.0606,0.04,0.03,0.05,,0.000000(D),0.000(P),"-1.2,-1.2,-1.2,-1.2,-1.2,-1.2,-1.2(T,T,T,T,T,T,T)",0.6608(D),0.545,5.214576,5.94,5.94,0.650000,2.820000,9.452000,0.967000,1.000000,1.000000,20.3736
missense_variant,SLC35A3,MISSENSE,NM_001271685.1:p.Asp14Gly/c.41A>G,gAt/gGt,MODERATE,,0.0353435,0.0536,rs11166383,0.55(T),0.0(B),,-1.0753(T),,chr1,100436133,100436133,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp14Gly/c.41A>G|367|SLC35A3|protein_coding|CODING|NM_001271685.1|1|1),intron_variant(MODIFIER|||c.-19+415A>G|220|SLC35A3|protein_coding|CODING|NM_001271684.1|1|1),intron_variant(MODIFIER|||c.-19+415A>G|325|SLC35A3|protein_coding|CODING|NM_012243.2|1|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.0256,0.0288,0.0288,,,,,0.043709(U),1.000(N),0.8(T),0.0234(T),0.085,2.933043,2.96,0.61,0.402000,0.104000,0.494000,0.037000,0.000000,0.000000,4.558
synonymous_variant,SLC35A3,SILENT,NM_001271685.1:p.Leu161Leu/c.483A>G,ttA/ttG,LOW,,0.202276,0.0724,rs534252,,,,,,chr1,100472604,100472604,A,G,hom,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu119Leu/c.357A>G|220|SLC35A3|protein_coding|CODING|NM_001271684.1|4|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu161Leu/c.483A>G|367|SLC35A3|protein_coding|CODING|NM_001271685.1|4|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu119Leu/c.357A>G|325|SLC35A3|protein_coding|CODING|NM_012243.2|4|1)","GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1002,0.1124,0.1471,0.25,0.43,0.15,,,,,,,,,,,,,,,,
synonymous_variant,HIAT1,SILENT,NM_033055.2:p.His39His/c.117T>C,caT/caC,LOW,,0.0435304,0.0188,rs17121792,,,,,,chr1,100515497,100515497,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His39His/c.117T>C|490|HIAT1|protein_coding|CODING|NM_033055.2|2|1),"NHEK:H3K27ac,GM12878:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,IMR90:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,GM06990:H3K36me3",,,,0.0634,0.0259,0.0517,0.04,0.05,0.04,,,,,,,,,,,,,,,,
synonymous_variant,TRMT13,SILENT,NM_019083.2:p.Leu253Leu/c.757C>T,Cta/Tta,LOW,COSM4142055(1),0.0511182,0.0198,rs6681721,,,,,,chr1,100609639,100609639,C,T,het,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu253Leu/c.757C>T|481|TRMT13|protein_coding|CODING|NM_019083.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0634,0.0259,0.0517,0.05,0.07,0.04,,,,,,,,,,,,,,,,
missense_variant,DBT,MISSENSE,NM_001918.3:p.Ser384Gly/c.1150A>G,Agt/Ggt,MODERATE,,0.891773,0.9494,rs12021720,1(T),0.0(B),,-1.0121(T),,chr1,100672060,100672060,T,C,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser384Gly/c.1150A>G|482|DBT|protein_coding|CODING|NM_001918.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,"RCV000012727.21,RCV000116865.2",,0.9611,0.9481,0.9215,0.86,0.77,0.90,,0.000010(N),0.999(P),1.19(T),0.0139(T),0.155,-0.687087,5.54,4.4,-0.215000,1.495000,1.905000,0.611000,0.356000,0.551000,9.6265
missense_variant,CDC14A,MISSENSE,NM_033312.2:p.Glu42Gln/c.124G>C,Gag/Cag,MODERATE,,,,,0.01(D),"0.655,0.538,0.581,0.866,0.337(P,P,P,P,B)",2.385(M),-0.5850(T),,chr1,100819392,100819392,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu42Gln/c.124G>C|594|CDC14A|protein_coding|CODING|NM_003672.3|2|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu42Gln/c.124G>C|623|CDC14A|protein_coding|CODING|NM_033312.2|2|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu42Gln/c.124G>C|383|CDC14A|protein_coding|CODING|NM_033313.2|2|1)","K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HSMM:H3K4me2,HeLa-S3:H3K4me2,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,K562:H3K79me2,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2",,,,,,,,,,,0.000000(D),1.000(D),"0.83,0.83,0.83,0.83,0.83,0.83(T,T,T,T,T,T)",0.2297(T),0.61,4.233930,4.8,4.8,0.555000,2.399000,8.378000,0.998000,1.000000,1.000000,16.9976
missense_variant,GPR88,MISSENSE,NM_022049.2:p.Val190Ile/c.568G>A,Gtc/Atc,MODERATE,COSM4142058(1),0.483227,0.6915,rs2809819,0.54(T),0.001(B),0.55(N),-1.0841(T),,chr1,101005090,101005090,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val190Ile/c.568G>A|384|GPR88|protein_coding|CODING|NM_022049.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:CTCF,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,IMR90:H3K4me3,H1ESC:CTCF",,,,0.5838,0.6412,0.5129,0.36,0.17,0.44,,0.723594(U),1.000(P),-0.42(T),0.0565(T),0.027,-0.663893,3.53,1.57,0.306000,0.176000,-0.229000,0.043000,0.518000,0.904000,6.1642
synonymous_variant,VCAM1,SILENT,NM_001078.3:p.Asp693Asp/c.2079C>T,gaC/gaT,LOW,,0.129193,0.0208,rs3176878,,,,,,chr1,101203698,101203698,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp693Asp/c.2079C>T|739|VCAM1|protein_coding|CODING|NM_001078.3|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp631Asp/c.1893C>T|677|VCAM1|protein_coding|CODING|NM_001199834.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp601Asp/c.1803C>T|647|VCAM1|protein_coding|CODING|NM_080682.2|8|1)",HSMM:H3K36me3,,,,0.0838,0.2435,0.1531,0.17,0.16,0.17,,,,,,,,,,,,,,,,
synonymous_variant,VCAM1,SILENT,NM_001078.3:p.Lys736Lys/c.2208G>A,aaG/aaA,LOW,,0.871206,0.8512,rs3176879,,,,,,chr1,101203827,101203827,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys736Lys/c.2208G>A|739|VCAM1|protein_coding|CODING|NM_001078.3|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys674Lys/c.2022G>A|677|VCAM1|protein_coding|CODING|NM_001199834.1|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys644Lys/c.1932G>A|647|VCAM1|protein_coding|CODING|NM_080682.2|8|1)",,,,,0.9663,0.9625,0.9702,0.88,0.72,0.97,,,,,,,,,,,,,,,,
synonymous_variant,OLFM3,SILENT,NM_001288821.1:p.Lys127Lys/c.381A>G,aaA/aaG,LOW,,0.146965,0.0079,rs10493973,,,,,,chr1,102296279,102296279,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys127Lys/c.381A>G|478|OLFM3|protein_coding|CODING|NM_001288821.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys32Lys/c.96A>G|383|OLFM3|protein_coding|CODING|NM_001288823.1|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys107Lys/c.321A>G|458|OLFM3|protein_coding|CODING|NM_058170.3|3|1),non_coding_exon_variant(MODIFIER|||n.800A>G||OLFM3||CODING|NR_110210.1|4|1),non_coding_exon_variant(MODIFIER|||n.739A>G||OLFM3||CODING|NR_110211.1|3|1),non_coding_exon_variant(MODIFIER|||n.488A>G||OLFM3||CODING|NR_110212.1|3|1)",,,,,0.0992,0.1081,0.1779,0.20,0.24,0.18,,,,,,,,,,,,,,,,
synonymous_variant,COL11A1,SILENT,NM_080629.2:p.Ile1602Ile/c.4806T>C,atT/atC,LOW,COSM3747461(1),0.484625,0.6647,rs2229783,,,,,,chr1,103352451,103352451,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1551Ile/c.4653T>C|1767|COL11A1|protein_coding|CODING|NM_001190709.1|62|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1590Ile/c.4770T>C|1806|COL11A1|protein_coding|CODING|NM_001854.3|63|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1602Ile/c.4806T>C|1818|COL11A1|protein_coding|CODING|NM_080629.2|63|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1474Ile/c.4422T>C|1690|COL11A1|protein_coding|CODING|NM_080630.3|61|1)",HMEC:DNase1,,,,0.5746,0.7478,0.6064,0.45,0.14,0.61,,,,,,,,,,,,,,,,
missense_variant,COL11A1,MISSENSE,NM_080629.2:p.Ser1547Pro/c.4639T>C,Tct/Cct,MODERATE,,0.782947,0.748,rs1676486,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-2.21(N),-0.8051(T),,chr1,103354138,103354138,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser1496Pro/c.4486T>C|1767|COL11A1|protein_coding|CODING|NM_001190709.1|61|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser1535Pro/c.4603T>C|1806|COL11A1|protein_coding|CODING|NM_001854.3|62|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser1547Pro/c.4639T>C|1818|COL11A1|protein_coding|CODING|NM_080629.2|62|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser1419Pro/c.4255T>C|1690|COL11A1|protein_coding|CODING|NM_080630.3|60|1)",,,,,0.6616,0.8948,0.83,0.81,0.80,0.81,,0.000005(N),0.601(P),"-3.42,-3.42,-3.42,-3.42(D,D,D,D)",0.2037(T),0.157,1.614595,5.67,5.67,-0.119000,1.420000,6.349000,0.939000,1.000000,1.000000,14.8898
synonymous_variant,COL11A1,SILENT,NM_080629.2:p.Gly1516Gly/c.4548T>C,ggT/ggC,LOW,COSM423330(2),0.622604,0.746,rs1763347,,,,,,chr1,103354428,103354428,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1465Gly/c.4395T>C|1767|COL11A1|protein_coding|CODING|NM_001190709.1|59|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1504Gly/c.4512T>C|1806|COL11A1|protein_coding|CODING|NM_001854.3|60|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1516Gly/c.4548T>C|1818|COL11A1|protein_coding|CODING|NM_080629.2|60|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1388Gly/c.4164T>C|1690|COL11A1|protein_coding|CODING|NM_080630.3|58|1)",,,,,0.6462,0.8401,0.8042,0.62,0.32,0.78,,,,,,,,,,,,,,,,
missense_variant,COL11A1,MISSENSE,NM_080629.2:p.Pro1335Leu/c.4004C>T,cCt/cTt,MODERATE,COSM3747462(1),0.496605,0.7034,rs3753841,0.09(T),"0.024,0.053,0.715,0.024,0.053(B,B,P,B,B)",2.75(M),0.9694(D),,chr1,103379918,103379918,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1284Leu/c.3851C>T|1767|COL11A1|protein_coding|CODING|NM_001190709.1|51|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1323Leu/c.3968C>T|1806|COL11A1|protein_coding|CODING|NM_001854.3|52|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1335Leu/c.4004C>T|1818|COL11A1|protein_coding|CODING|NM_080629.2|52|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1207Leu/c.3620C>T|1690|COL11A1|protein_coding|CODING|NM_080630.3|50|1)",H1ESC:H3K36me3,Glaucoma_primary_open_angle,,,0.5859,0.755,0.6123,0.45,0.14,0.61,,0.000001(D),0.000(P),"-4.09,-4.09,-4.09,-4.09(D,D,D,D)",0.9155(D),0.527,4.107244,5.75,5.75,0.655000,2.716000,9.365000,0.996000,0.991000,1.000000,19.9598
synonymous_variant,RNPC3,SILENT,NM_017619.3:p.Gly114Gly/c.342C>T,ggC/ggT,LOW,,0.602037,0.3661,rs6697444,,,,,,chr1,104076462,104076462,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly114Gly/c.342C>T|517|RNPC3|protein_coding|CODING|NM_017619.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6534,0.5389,0.6412,0.65,0.71,0.62,,,,,,,,,,,,,,,,
missense_variant,PRMT6,MISSENSE,NM_018137.2:p.Ala194Val/c.581C>T,gCc/gTc,MODERATE,COSM3735914(4),0.1252,0.1448,rs2232016,0.23(T),0.298(B),1.935(M),-1.1067(T),,chr1,107599918,107599918,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala194Val/c.581C>T|375|PRMT6|protein_coding|CODING|NM_018137.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:DNase1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.2198,0.0865,0.1918,0.15,0.04,0.21,,0.000000(D),0.000(P),"1.96,1.96(T,T)",0.0396(T),0.524,5.100072,5.51,5.51,0.442000,2.584000,3.666000,0.981000,0.991000,0.952000,16.9117
synonymous_variant,NTNG1,SILENT,NM_001113226.1:p.Gly455Gly/c.1365A>C,ggA/ggC,LOW,COSM4142084(1),0.95028,1,rs480392,,,,,,chr1,107979396,107979396,A,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly455Gly/c.1365A>C|539|NTNG1|protein_coding|CODING|NM_001113226.1|7|1),intron_variant(MODIFIER|||c.1087+29066A>C|438|NTNG1|protein_coding|CODING|NM_014917.2|5|1),intron_variant(MODIFIER|||c.1213+15631A>C|480|NTNG1|protein_coding|CODING|NM_001113228.1|7|1)",,,,,1,0.987,1,0.95,0.85,1.00,,,,,,,,,,,,,,,,
missense_variant,VAV3,MISSENSE,NM_006113.4:p.Thr298Ser/c.892A>T,Aca/Tca,MODERATE,,0.507788,0.3879,rs7528153,,,0.925(L),-1.0463(T),,chr1,108307727,108307727,T,A,hom,missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr298Ser/c.892A>T|847|VAV3|protein_coding|CODING|NM_006113.4|9|1),,,,,0.3824,0.4251,0.7038,0.67,0.61,0.70,,,0.000(P),,0.0805(T),.,0.812619,5.64,4.5,0.528000,0.946000,1.315000,0.998000,1.000000,1.000000,6.5647
missense_variant,NBPF4,MISSENSE,NM_001143989.2:p.Gln494Arg/c.1481A>G,cAg/cGg,MODERATE,COSM3930243(3),,,rs79996376,0.91(T),0.0(B),-0.695(N),-0.9757(T),,chr1,108771721,108771721,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln494Arg/c.1481A>G|638|NBPF4|protein_coding|CODING|NM_001143989.2|13|1),"K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),4.42(T),0.0007(T),0.051,-0.691135,1.55,-0.859,-2.186000,-0.739000,-0.262000,0.002000,0.000000,0.000000,3.8615
missense_variant,FNDC7,MISSENSE,NM_001144937.1:p.Val353Ala/c.1058T>C,gTc/gCc,MODERATE,COSM3996721(2),0.592851,0.2341,rs4494160,1(T),"0.0,0.0(B,B)",-1.995(N),-0.9559(T),,chr1,109268573,109268573,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val353Ala/c.1058T>C|733|FNDC7|protein_coding|CODING|NM_001144937.1|6|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.6063,0.5346,0.7127,0.74,0.79,0.71,,0.000000(N),1.000(P),"2.24,2.24(T,T)",0.0036(T),0.56,1.197876,6.05,6.05,-0.119000,1.592000,5.626000,0.933000,1.000000,1.000000,15.6206
synonymous_variant,AKNAD1,SILENT,NM_152763.4:p.Lys728Lys/c.2184A>G,aaA/aaG,LOW,,0.386382,0.6974,rs1333130,,,,,,chr1,109363232,109363232,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys728Lys/c.2184A>G|836|AKNAD1|protein_coding|CODING|NM_152763.4|14|1),intron_variant(MODIFIER|||n.2377+2760A>G||AKNAD1||CODING|NR_049760.1|12|1)","HUVEC:H3K27me3,NHEK:H3K36me3",,,,0.364,0.3919,0.2565,0.25,0.28,0.23,,,,,,,,,,,,,,,,
missense_variant,AKNAD1,MISSENSE,NM_152763.4:p.Asn616Lys/c.1848C>A,aaC/aaA,MODERATE,COSM146571(4),0.503195,0.2649,rs7551421,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9733(T),,chr1,109369915,109369915,G,T,hom,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn616Lys/c.1848C>A|836|AKNAD1|protein_coding|CODING|NM_152763.4|11|1),non_coding_exon_variant(MODIFIER|||n.2058C>A||AKNAD1||CODING|NR_049760.1|10|1)",NHEK:H3K36me3,,,,0.4755,0.5288,0.5805,0.61,0.64,0.60,,0.906845(N),1.000(P),"2.52,2.52,2.52,2.52(T,T,T,T)",0.0018(T),0.015,-1.296348,5.0,-7.42,-1.554000,-2.161000,-1.357000,0.000000,0.000000,0.000000,2.3068
missense_variant,AKNAD1,MISSENSE,NM_152763.4:p.Gly582Val/c.1745G>T,gGg/gTg,MODERATE,,0.132987,0.12,rs12060255,0.14(T),"0.1,0.11(B,B)",0.895(L),-0.9582(T),,chr1,109377070,109377070,C,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly582Val/c.1745G>T|836|AKNAD1|protein_coding|CODING|NM_152763.4|9|1),splice_region_variant(LOW|||c.1745G>T|836|AKNAD1|protein_coding|CODING|NM_152763.4|9|1),intron_variant(MODIFIER|||n.1956+3102G>T||AKNAD1||CODING|NR_049760.1|8|1)",HepG2:H3K27me3,,,,0.09,0.0951,0.1133,0.14,0.19,0.11,,,1.000(P),"3.17,2.39,3.08,3.15(T,T,T,T)",0.0082(T),0.064,0.831248,3.31,-0.038,0.462000,0.207000,0.598000,0.052000,0.001000,0.007000,2.5826
missense_variant,AKNAD1,MISSENSE,NM_152763.4:p.Ser61Asn/c.182G>A,aGt/aAt,MODERATE,,0.867013,0.9395,rs1277207,0.74(T),0.0(B),-1.1(N),-0.9477(T),,chr1,109395105,109395105,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser61Asn/c.182G>A|836|AKNAD1|protein_coding|CODING|NM_152763.4|2|1),non_coding_exon_variant(MODIFIER|||n.602G>A||AKNAD1||CODING|NR_049760.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8456,0.879,0.7903,0.83,0.87,0.82,,0.049755(N),1.000(P),"3.24,3.24,3.23(T,T,T)",0.0019(T),0.016,0.196413,4.88,-4.24,-0.972000,-1.527000,-0.410000,0.000000,0.000000,0.000000,6.6085
synonymous_variant,CLCC1,SILENT,NM_001048210.2:p.Thr201Thr/c.603T>C,acT/acC,LOW,COSM3747468(2),0.538339,0.3958,rs338466,,,,,,chr1,109486196,109486196,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr201Thr/c.603T>C|551|CLCC1|protein_coding|CODING|NM_001048210.2|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr151Thr/c.453T>C|501|CLCC1|protein_coding|CODING|NM_015127.4|6|1),intron_variant(MODIFIER|||c.340-3792T>C|366|CLCC1|protein_coding|CODING|NM_001278203.1|3|1),intron_variant(MODIFIER|||c.340-2076T>C|430|CLCC1|protein_coding|CODING|NM_001278202.1|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4254,0.5101,0.5219,0.59,0.73,0.53,,,,,,,,,,,,,,,,
missense_variant,KIAA1324,MISSENSE,NM_020775.4:p.Ile86Val/c.256A>G,Atc/Gtc,MODERATE,,0.995607,0.999,rs678238,1(T),"0.0,0.0,0.0(B,B,B)",-1.78(N),-0.9915(T),,chr1,109704618,109704618,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile86Val/c.256A>G|926|KIAA1324|protein_coding|CODING|NM_001267048.1|2|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile86Val/c.256A>G|1013|KIAA1324|protein_coding|CODING|NM_020775.4|2|1),intron_variant(MODIFIER|||c.-32-2503A>G|902|KIAA1324|protein_coding|CODING|NM_001284352.1|1|1)","IMR90:H2BK120ac,HUVEC:H3K27me3,IMR90:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,IMR90:DNase1,HMEC:H3K4me2,HSMM:DNase1,IMR90:H3K4me1,IMR90:H3K4ac,IMR90:H3K27ac,HMEC:H3K4me1,IMR90:H3K18ac,IMR90:H4K8ac",,,,1,0.9986,1,1.00,0.99,1.00,,0.000000(N),0.968(P),"1.24,1.01,1.01,1.01,1.62,1.62,1.62(T,T,T,T,T,T,T)",0.0090(T),0.22,0.881009,5.55,5.55,-0.119000,1.356000,3.153000,0.945000,0.997000,1.000000,11.4589
synonymous_variant,KIAA1324,SILENT,NM_020775.4:p.Gly583Gly/c.1749T>C,ggT/ggC,LOW,,0.741613,0.999,rs658779,,,,,,chr1,109735298,109735298,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly496Gly/c.1488T>C|926|KIAA1324|protein_coding|CODING|NM_001267048.1|12|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly481Gly/c.1443T>C|902|KIAA1324|protein_coding|CODING|NM_001284352.1|13|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly245Gly/c.735T>C|675|KIAA1324|protein_coding|CODING|NM_001284353.1|7|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly583Gly/c.1749T>C|1013|KIAA1324|protein_coding|CODING|NM_020775.4|14|1)","HUVEC:DNase1,HepG2:H3K27me3",,,,0.9325,0.8055,0.7565,0.64,0.41,0.75,,,,,,,,,,,,,,,,
missense_variant,KIAA1324,MISSENSE,NM_020775.4:p.Thr623Pro/c.1867A>C,Act/Cct,MODERATE,COSM4142096(1),0.740016,0.998,rs659543,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.7(N),-0.9932(T),,chr1,109735416,109735416,A,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr536Pro/c.1606A>C|926|KIAA1324|protein_coding|CODING|NM_001267048.1|12|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr521Pro/c.1561A>C|902|KIAA1324|protein_coding|CODING|NM_001284352.1|13|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr285Pro/c.853A>C|675|KIAA1324|protein_coding|CODING|NM_001284353.1|7|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr623Pro/c.1867A>C|1013|KIAA1324|protein_coding|CODING|NM_020775.4|14|1)",HepG2:H3K27me3,,,,0.9254,0.8055,0.7565,0.64,0.41,0.75,,0.367544(N),1.000(P),"0.05,0.05,0.05(T,T,T)",0.0093(T),0.418,-1.555217,4.81,-7.86,-0.782000,-1.323000,-1.790000,0.287000,0.298000,0.000000,1.863
synonymous_variant,KIAA1324,SILENT,NM_020775.4:p.Asn656Asn/c.1968C>T,aaC/aaT,LOW,,0.713658,0.9702,rs2359246,,,,,,chr1,109737063,109737063,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn569Asn/c.1707C>T|926|KIAA1324|protein_coding|CODING|NM_001267048.1|13|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn554Asn/c.1662C>T|902|KIAA1324|protein_coding|CODING|NM_001284352.1|14|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn318Asn/c.954C>T|675|KIAA1324|protein_coding|CODING|NM_001284353.1|8|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn656Asn/c.1968C>T|1013|KIAA1324|protein_coding|CODING|NM_020775.4|15|1)",,,,,0.8937,0.7968,0.7634,0.63,0.37,0.76,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1324,SILENT,NM_020775.4:p.Pro665Pro/c.1995G>A,ccG/ccA,LOW,,0.715256,0.9702,rs2359245,,,,,,chr1,109737090,109737090,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro578Pro/c.1734G>A|926|KIAA1324|protein_coding|CODING|NM_001267048.1|13|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro563Pro/c.1689G>A|902|KIAA1324|protein_coding|CODING|NM_001284352.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro327Pro/c.981G>A|675|KIAA1324|protein_coding|CODING|NM_001284353.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro665Pro/c.1995G>A|1013|KIAA1324|protein_coding|CODING|NM_020775.4|15|1)",,,,,0.8937,0.7954,0.7634,0.63,0.37,0.76,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1324,SILENT,NM_020775.4:p.Thr679Thr/c.2037T>C,acT/acC,LOW,,0.766573,0.9702,rs2359244,,,,,,chr1,109737132,109737132,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr592Thr/c.1776T>C|926|KIAA1324|protein_coding|CODING|NM_001267048.1|13|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr577Thr/c.1731T>C|902|KIAA1324|protein_coding|CODING|NM_001284352.1|14|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr341Thr/c.1023T>C|675|KIAA1324|protein_coding|CODING|NM_001284353.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr679Thr/c.2037T>C|1013|KIAA1324|protein_coding|CODING|NM_020775.4|15|1)",,,,,0.9305,0.8127,0.7654,0.67,0.49,0.76,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1324,SILENT,NM_020775.4:p.Leu693Leu/c.2077C>T,Ctg/Ttg,LOW,,0.714058,0.9702,rs2359243,,,,,,chr1,109737172,109737172,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu606Leu/c.1816C>T|926|KIAA1324|protein_coding|CODING|NM_001267048.1|13|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu591Leu/c.1771C>T|902|KIAA1324|protein_coding|CODING|NM_001284352.1|14|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu355Leu/c.1063C>T|675|KIAA1324|protein_coding|CODING|NM_001284353.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu693Leu/c.2077C>T|1013|KIAA1324|protein_coding|CODING|NM_020775.4|15|1)",,,,,0.8937,0.7968,0.7634,0.63,0.37,0.76,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1324,SILENT,NM_020775.4:p.Ser837Ser/c.2511G>A,tcG/tcA,LOW,COSM3748989(2),0.758786,0.9593,rs913179,,,,,,chr1,109742485,109742485,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser750Ser/c.2250G>A|926|KIAA1324|protein_coding|CODING|NM_001267048.1|17|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser735Ser/c.2205G>A|902|KIAA1324|protein_coding|CODING|NM_001284352.1|18|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser499Ser/c.1497G>A|675|KIAA1324|protein_coding|CODING|NM_001284353.1|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser837Ser/c.2511G>A|1013|KIAA1324|protein_coding|CODING|NM_020775.4|19|1)","CD4:H2AZ,K562:H3K4me1,CD4:H4K8ac,CD4:H4K5ac",,,,0.8763,0.8055,0.7893,0.70,0.52,0.79,,,,,,,,,,,,,,,,
missense_variant,KIAA1324,MISSENSE,NM_020775.4:p.Leu1009Pro/c.3026T>C,cTa/cCa,MODERATE,COSM4142097(1),0.890375,0.9593,rs1052878,0.19(T),"0.0,0.0(B,B)",0(N),-0.9649(T),,chr1,109745618,109745618,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu922Pro/c.2765T>C|926|KIAA1324|protein_coding|CODING|NM_001267048.1|20|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu671Pro/c.2012T>C|675|KIAA1324|protein_coding|CODING|NM_001284353.1|15|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu1009Pro/c.3026T>C|1013|KIAA1324|protein_coding|CODING|NM_020775.4|22|1),3_prime_UTR_variant(MODIFIER||42|c.*42T>C|902|KIAA1324|protein_coding|CODING|NM_001284352.1|21|1)",HepG2:H3K27me3,,,,0.954,0.9049,0.8996,0.85,0.76,0.90,,0.043843(N),0.557(P),"2.72,2.73(T,T)",0.0064(T),0.128,1.066439,5.18,4.26,-0.119000,1.528000,1.266000,0.925000,0.997000,0.586000,5.6789
synonymous_variant,CELSR2,SILENT,NM_001408.2:p.Ser517Ser/c.1551T>C,agT/agC,LOW,,0.901957,0.997,rs454107,,,,,,chr1,109794252,109794252,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser517Ser/c.1551T>C|2923|CELSR2|protein_coding|CODING|NM_001408.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9417,0.9625,0.9672,0.90,0.78,0.96,,,,,,,,,,,,,,,,
synonymous_variant,CELSR2,SILENT,NM_001408.2:p.Tyr775Tyr/c.2325T>C,taT/taC,LOW,,0.901957,0.997,rs413380,,,,,,chr1,109795026,109795026,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr775Tyr/c.2325T>C|2923|CELSR2|protein_coding|CODING|NM_001408.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9417,0.9611,0.9672,0.90,0.78,0.96,,,,,,,,,,,,,,,,
synonymous_variant,CELSR2,SILENT,NM_001408.2:p.Phe969Phe/c.2907T>C,ttT/ttC,LOW,,0.914337,0.997,rs437444,,,,,,chr1,109795608,109795608,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe969Phe/c.2907T>C|2923|CELSR2|protein_coding|CODING|NM_001408.2|1|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9417,0.9654,0.9662,0.91,0.82,0.96,,,,,,,,,,,,,,,,
synonymous_variant,CELSR2,SILENT,NM_001408.2:p.Pro1712Pro/c.5136C>T,ccC/ccT,LOW,COSM3750214(1),0.353435,0.498,rs6698843,,,,,,chr1,109806834,109806834,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1712Pro/c.5136C>T|2923|CELSR2|protein_coding|CODING|NM_001408.2|10|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,K562:USF1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3742,0.4654,0.4751,0.35,0.13,0.47,,,,,,,,,,,,,,,,
synonymous_variant,CELSR2,SILENT,NM_001408.2:p.Pro1771Pro/c.5313G>A,ccG/ccA,LOW,COSM1178398(5),0.353035,0.497,rs6689614,,,,,,chr1,109807099,109807099,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1771Pro/c.5313G>A|2923|CELSR2|protein_coding|CODING|NM_001408.2|11|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3732,0.4654,0.4751,0.35,0.13,0.47,,,,,,,,,,,,,,,,
synonymous_variant,CELSR2,SILENT,NM_001408.2:p.Arg2009Arg/c.6027C>T,cgC/cgT,LOW,COSM3747472(1),0.0351438,0.001,rs386502948,,,,,,chr1,109810183,109810183,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg2009Arg/c.6027C>T|2923|CELSR2|protein_coding|CODING|NM_001408.2|16|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0613,0.0447,0.0805,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,CELSR2,SILENT,NM_001408.2:p.Gly2876Gly/c.8628A>C,ggA/ggC,LOW,COSM4142101(1),0.969848,1,rs441853,,,,,,chr1,109816176,109816176,A,C,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly2876Gly/c.8628A>C|2923|CELSR2|protein_coding|CODING|NM_001408.2|33|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:Ap2alpha,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HeLa-S3:H3K4me3,HMEC:H3K4me3,NHEK:DNase1",,,,1,0.987,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
splice_acceptor_variant,PSRC1,protein_coding,NM_001032291.2:c.1G>A,,HIGH,,0.971046,1,rs643457,,,,,PSRC1:0.33(3);,chr1,109825360,109825360,C,T,hom,"splice_acceptor_variant(HIGH|||c.1G>A|333|PSRC1|protein_coding|CODING|NM_001032291.2|2|1),splice_region_variant(LOW|||c.1G>A|310|PSRC1|protein_coding|CODING|NM_001005290.3|1|1),splice_region_variant(LOW|||c.1G>A|333|PSRC1|protein_coding|CODING|NM_032636.7|1|1),intron_variant(MODIFIER|||c.-33-7G>A|310|PSRC1|protein_coding|CODING|NM_001005290.3|1|1),intron_variant(MODIFIER|||c.-33-7G>A|333|PSRC1|protein_coding|CODING|NM_032636.7|1|1),intron_variant(MODIFIER|||c.-38-2G>A|333|PSRC1|protein_coding|CODING|NM_001032291.2|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1",,,,1,0.9856,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,MYBPHL,MISSENSE,NM_001010985.2:p.Asp269Asn/c.805G>A,Gac/Aac,MODERATE,,0.874601,1,rs629001,0.35(T),0.012(B),0.625(N),-1.0926(T),,chr1,109838918,109838918,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp269Asn/c.805G>A|354|MYBPHL|protein_coding|CODING|NM_001010985.2|6|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp246Asn/c.736G>A|331|MYBPHL|protein_coding|CODING|NM_001265613.1|6|1)",HUVEC:H3K27me3,,,,0.9356,0.9452,0.9284,0.86,0.71,0.93,,,0.008(P),-0.81(T),0.1021(T),0.033,1.453641,5.16,3.27,0.561000,0.752000,3.461000,0.939000,0.998000,0.997000,8.025
synonymous_variant,MYBPHL,SILENT,NM_001010985.2:p.Thr234Thr/c.702T>C,acT/acC,LOW,,0.925319,1,rs1278285,,,,,,chr1,109839433,109839433,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr234Thr/c.702T>C|354|MYBPHL|protein_coding|CODING|NM_001010985.2|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr211Thr/c.633T>C|331|MYBPHL|protein_coding|CODING|NM_001265613.1|5|1)",HSMM:DNase1,,,,1,0.9697,1,0.92,0.78,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SORT1,SILENT,NM_002959.5:p.Thr323Thr/c.969A>C,acA/acC,LOW,,0.685503,0.9563,rs2228604,,,,,,chr1,109884775,109884775,T,G,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr186Thr/c.558A>C|694|SORT1|protein_coding|CODING|NM_001205228.1|9|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr323Thr/c.969A>C|831|SORT1|protein_coding|CODING|NM_002959.5|9|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7188,0.8271,0.7127,0.62,0.42,0.73,,,,,,,,,,,,,,,,
synonymous_variant,SORT1,SILENT,NM_002959.5:p.Phe198Phe/c.594T>C,ttT/ttC,LOW,COSM1332444(1),0.776358,0.9563,rs11142,,,,,,chr1,109897103,109897103,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe62Phe/c.186T>C|694|SORT1|protein_coding|CODING|NM_001205228.1|5|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe198Phe/c.594T>C|831|SORT1|protein_coding|CODING|NM_002959.5|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.7188,0.853,0.7147,0.71,0.67,0.73,,,,,,,,,,,,,,,,
synonymous_variant,SORT1,SILENT,NM_002959.5:p.Pro4Pro/c.12C>G,ccC/ccG,LOW,COSM4142105(1),0.153954,0.0427,rs72646553,,,,,,chr1,109940503,109940503,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro4Pro/c.12C>G|831|SORT1|protein_coding|CODING|NM_002959.5|1|1),downstream_gene_variant(MODIFIER||1150||183|PSMA5|protein_coding|CODING|NM_001199772.1||1),downstream_gene_variant(MODIFIER||1150||183|PSMA5|protein_coding|CODING|NM_001199773.1||1),downstream_gene_variant(MODIFIER||1150||183|PSMA5|protein_coding|CODING|NM_001199774.1||1),downstream_gene_variant(MODIFIER||1150||241|PSMA5|protein_coding|CODING|NM_002790.3||1)","K562:ZBTB7A,H1ESC:PolII,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HUVEC:H3K27me3,H1ESC:TAF1,HepG2:Sin3Ak20,HUVEC:H3K4me3,K562:SP2,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:Pbx3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,GM12878:Cfos,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.2168,0.1196,0.2296,,,,,,,,,,,,,,,,,,,
synonymous_variant,AMPD2,SILENT,NM_001257360.1:p.His478His/c.1434T>C,caT/caC,LOW,COSM4142108(1),0.807708,0.9802,rs863978,,,,-1.0278(T),,chr1,110170896,110170896,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His478His/c.1434T>C|879|AMPD2|protein_coding|CODING|NM_001257360.1|11|1),synonymous_variant(LOW|SILENT|caT/caC|p.His360His/c.1080T>C|761|AMPD2|protein_coding|CODING|NM_001257361.1|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His478His/c.1434T>C|879|AMPD2|protein_coding|CODING|NM_004037.7|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His397His/c.1191T>C|798|AMPD2|protein_coding|CODING|NM_139156.3|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His359His/c.1077T>C|760|AMPD2|protein_coding|CODING|NM_203404.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8916,0.7695,0.6769,0.68,0.76,0.65,,,0.000(P),,0.0583(T),.,0.613917,5.04,-1.77,-0.441000,-0.169000,-0.772000,0.692000,0.994000,0.042000,10.0817
synonymous_variant,GSTM4,SILENT,NM_000850.4:p.Phe178Phe/c.534T>C,ttT/ttC,LOW,COSM3747486(1),0.805312,0.9702,rs506008,,,,,,chr1,110201699,110201699,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe178Phe/c.534T>C|218|GSTM4|protein_coding|CODING|NM_000850.4|7|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe178Phe/c.534T>C|195|GSTM4|protein_coding|CODING|NM_147148.2|7|1),non_coding_exon_variant(MODIFIER|||n.766T>C||GSTM4||CODING|NR_024538.1|6|1)","H1ESC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8517,0.8732,0.8598,0.79,0.61,0.87,,,,,,,,,,,,,,,,
synonymous_variant,GSTM2,SILENT,NM_000848.3:p.Asn74Asn/c.222C>T,aaC/aaT,LOW,,0.0938498,0.001,rs592792,,,,,,chr1,110211956,110211956,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn74Asn/c.222C>T|218|GSTM2|protein_coding|CODING|NM_000848.3|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn74Asn/c.222C>T|191|GSTM2|protein_coding|CODING|NM_001142368.1|4|1)","H1ESC:H3K27me3,IMR90:H3K36me3",,,,0.047,0.0836,0.1481,0.15,0.16,0.14,,,,,,,,,,,,,,,,
missense_variant,GSTM1,MISSENSE,NM_000561.3:p.Asn85Ser/c.254A>G,aAc/aGc,MODERATE,,0.0123802,0.001,rs147668562,0.07(T),"0.027,0.0(B,B)",2.385(M),-1.0323(T),,chr1,110231746,110231746,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn85Ser/c.254A>G|218|GSTM1|protein_coding|CODING|NM_000561.3|4|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn85Ser/c.254A>G|181|GSTM1|protein_coding|CODING|NM_146421.2|4|1)",H1ESC:H3K27me3,,,,0.0153,0.0187,0.0288,0.04,0.01,0.06,,0.021092(U),0.000(P),"4.53,3.87,4.63,3.62(T,T,T,T)",0.0076(T),0.096,0.241239,3.28,0.761,-0.736000,0.018000,3.591000,0.051000,0.998000,0.998000,6.2295
missense_variant,GSTM5,MISSENSE,NM_000851.3:p.Ala67Thr/c.199G>A,Gct/Act,MODERATE,,0.0401358,0,rs17854972,0.19(T),"0.007,0.0(B,B)",-0.345(N),-1.0435(T),,chr1,110256127,110256127,G,A,hom,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala67Thr/c.199G>A|218|GSTM5|protein_coding|CODING|NM_000851.3|4|1),"GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0501,0.0548,0.0964,0.08,0.03,0.11,,0.021026(N),1.000(N),"0.99,3.33,0.99(T,T,T)",0.0099(T),0.086,-0.208371,4.33,-8.66,-2.830000,-2.436000,-0.869000,0.008000,0.000000,0.000000,2.4536
synonymous_variant,GSTM5,SILENT,NM_000851.3:p.Leu128Leu/c.382T>C,Ttg/Ctg,LOW,,0.0285543,0,rs2229059,,,,,,chr1,110257590,110257590,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu128Leu/c.382T>C|218|GSTM5|protein_coding|CODING|NM_000851.3|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.0389,0.0432,0.0686,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,EPS8L3,SILENT,NM_139053.2:p.Ser390Ser/c.1170A>G,tcA/tcG,LOW,COSM3750218(1),0.770168,0.8601,rs1887547,,,,,,chr1,110295772,110295772,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser389Ser/c.1167A>G|563|EPS8L3|protein_coding|CODING|NM_024526.3|13|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser389Ser/c.1167A>G|593|EPS8L3|protein_coding|CODING|NM_133181.3|13|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser390Ser/c.1170A>G|594|EPS8L3|protein_coding|CODING|NM_139053.2|13|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7444,0.6816,0.5795,0.69,0.87,0.60,,,,,,,,,,,,,,,,
missense_variant,EPS8L3,MISSENSE,NM_139053.2:p.Gly164Ser/c.490G>A,Ggc/Agc,MODERATE,,0.316494,0.0556,rs6693815,0.75(T),"0.001,0.004,0.001,0.004(B,B,B,B)",-0.69(N),-1.0781(T),,chr1,110301260,110301260,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly163Ser/c.487G>A|563|EPS8L3|protein_coding|CODING|NM_024526.3|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly163Ser/c.487G>A|593|EPS8L3|protein_coding|CODING|NM_133181.3|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly164Ser/c.490G>A|594|EPS8L3|protein_coding|CODING|NM_139053.2|7|1)",HepG2:H3K36me3,,,,0.228,0.2248,0.1918,0.35,0.61,0.22,,0.084779(N),1.000(P),"2.6,0.24,0.25(T,T,T)",0.0182(T),0.056,2.277964,5.51,-2.18,0.655000,-0.055000,-0.846000,0.498000,0.003000,0.000000,1.3281
synonymous_variant,CSF1,SILENT,NM_000757.5:p.Thr365Thr/c.1095C>A,acC/acA,LOW,COSM3750220(1),0.430112,0.4018,rs333970,,,,,,chr1,110466338,110466338,C,A,het,"splice_region_variant(LOW|||c.1091C>A|438|CSF1|protein_coding|CODING|NM_172210.2|6|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr365Thr/c.1095C>A|554|CSF1|protein_coding|CODING|NM_000757.5|6|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr365Thr/c.1095C>A|554|CSF1|protein_coding|CODING|NM_172212.2|6|1),intron_variant(MODIFIER|||c.545-344C>A|256|CSF1|protein_coding|CODING|NM_172211.3|5|1),intron_variant(MODIFIER|||c.1090+5C>A|438|CSF1|protein_coding|CODING|NM_172210.2|6|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.5971,0.5749,0.6213,0.46,0.19,0.60,,,,,,,,,,,,,,,,
missense_variant,CSF1,MISSENSE,NM_000757.5:p.Leu408Pro/c.1223T>C,cTg/cCg,MODERATE,COSM3747493(1),0.421526,0.5972,rs1058885,0.33(T),0.007(B),-0.205(N),-0.9736(T),,chr1,110466466,110466466,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu408Pro/c.1223T>C|554|CSF1|protein_coding|CODING|NM_000757.5|6|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu408Pro/c.1223T>C|554|CSF1|protein_coding|CODING|NM_172212.2|6|1),intron_variant(MODIFIER|||c.545-216T>C|256|CSF1|protein_coding|CODING|NM_172211.3|5|1),intron_variant(MODIFIER|||c.1090+133T>C|438|CSF1|protein_coding|CODING|NM_172210.2|6|1)","H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3497,0.3271,0.336,0.40,0.44,0.37,,0.584474(N),1.000(P),"2.45,2.45(T,T)",0.0044(T),0.017,0.857555,4.98,-9.14,-2.386000,-2.705000,-1.105000,0.000000,0.000000,0.000000,3.9327
missense_variant,CSF1,MISSENSE,NM_000757.5:p.Phe489Ser/c.1466T>C,tTc/tCc,MODERATE,,0.996805,1,rs333971,1(T),"0.0,0.001,0.0(B,B,B)",-1.87(N),-0.9148(T),,chr1,110466709,110466709,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe489Ser/c.1466T>C|554|CSF1|protein_coding|CODING|NM_000757.5|6|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe489Ser/c.1466T>C|554|CSF1|protein_coding|CODING|NM_172212.2|6|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe373Ser/c.1118T>C|438|CSF1|protein_coding|CODING|NM_172210.2|7|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe191Ser/c.572T>C|256|CSF1|protein_coding|CODING|NM_172211.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.089637(N),1.000(P),"2.96,2.96,2.96,2.96,2.96(T,T,T,T,T)",0.0019(T),0.124,-1.142876,5.48,4.57,-0.349000,0.700000,-0.151000,0.007000,0.000000,0.000000,9.4148
synonymous_variant,SLC6A17,SILENT,NM_001010898.2:p.Asp56Asp/c.168T>C,gaT/gaC,LOW,,0.392971,0.2143,rs7527375,,,,,,chr1,110709719,110709719,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp56Asp/c.168T>C|727|SLC6A17|protein_coding|CODING|NM_001010898.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3722,0.353,0.5249,0.52,0.51,0.53,,,,,,,,,,,,,,,,
missense_variant,SLC6A17,MISSENSE,NM_001010898.2:p.Ala57Thr/c.169G>A,Gca/Aca,MODERATE,,0.2502,0.2143,rs12737742,0.39(T),0.045(B),0(N),-1.1048(T),,chr1,110709720,110709720,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala57Thr/c.169G>A|727|SLC6A17|protein_coding|CODING|NM_001010898.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3517,0.2608,0.4652,0.33,0.11,0.45,,0.168698(N),1.000(P),-0.82(T),0.0715(T),0.019,2.134875,4.44,2.57,0.655000,0.504000,0.538000,0.914000,0.042000,0.000000,6.0414
synonymous_variant,SLC6A17,SILENT,NM_001010898.2:p.Ser527Ser/c.1581G>A,tcG/tcA,LOW,,0.289736,0.3016,rs2784140,,,,,,chr1,110738296,110738296,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser527Ser/c.1581G>A|727|SLC6A17|protein_coding|CODING|NM_001010898.2|10|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3732,0.3847,0.4543,0.37,0.11,0.50,,,,,,,,,,,,,,,,
synonymous_variant,RBM15,SILENT,NM_022768.4:p.Glu139Glu/c.417A>G,gaA/gaG,LOW,COSM3750221(1),0.822883,0.7738,rs814771,,,,,,chr1,110882444,110882444,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu139Glu/c.417A>G|969|RBM15|protein_coding|CODING|NM_001201545.1|1|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu139Glu/c.417A>G|977|RBM15|protein_coding|CODING|NM_022768.4|1|1),upstream_gene_variant(MODIFIER||651|||LOC440600||NON_CODING|NR_036595.1||1)","NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,CD4:H2BK20ac,K562:H3K36me3,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:DNase1,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.816,0.8545,0.6879,0.79,0.93,0.72,,,,,,,,,,,,,,,,
missense_variant,RBM15,MISSENSE,NM_001201545.1:p.Arg961Gln/c.2882G>A,cGg/cAg,MODERATE,,0.131989,0,rs61787373,,,,,,chr1,110888948,110888948,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg961Gln/c.2882G>A|969|RBM15|protein_coding|CODING|NM_001201545.1|2|1),3_prime_UTR_variant(MODIFIER||717|c.*59G>A|977|RBM15|protein_coding|CODING|NM_022768.4|3|1)","HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.0941,0.2334,0.0805,0.12,0.20,0.08,,,,,,,,,,,,,,,,
synonymous_variant,LAMTOR5,SILENT,NM_006402.2:p.Asp9Asp/c.27C>T,gaC/gaT,LOW,COSM3747495(2),0.0872604,0,rs11102099,,,,,,chr1,110950462,110950462,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp9Asp/c.27C>T|173|LAMTOR5|protein_coding|CODING|NM_006402.2|1|1),non_coding_exon_variant(MODIFIER|||n.32G>A||LAMTOR5-AS1||NON_CODING|NR_102697.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,K562:ATF3,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,GM12878:SIX5,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,GM12878:ATF3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HepG2:HNF4A,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,GM12878:Rad21,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.0675,0.2233,0.0746,0.08,0.10,0.07,,,,,,,,,,,,,,,,
missense_variant,PROK1,MISSENSE,NM_032414.2:p.Val67Ile/c.199G>A,Gtc/Atc,MODERATE,COSM146578(2),0.441094,0.5754,rs7514102,,0.009(B),1.38(L),-1.0674(T),,chr1,110998854,110998854,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val67Ile/c.199G>A|105|PROK1|protein_coding|CODING|NM_032414.2|3|1),splice_region_variant(LOW|||c.199G>A|105|PROK1|protein_coding|CODING|NM_032414.2|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.3405,0.5677,0.4165,0.41,0.38,0.42,,0.688173(N),0.418(P),-2.1(D),0.2430(T),0.04,0.776329,5.35,-7.86,-0.499000,-1.804000,0.747000,0.035000,0.078000,1.000000,11.213
synonymous_variant,KCNA10,SILENT,NM_005549.2:p.Leu247Leu/c.741A>G,ctA/ctG,LOW,COSM3996740(1),0.624201,0.5853,rs1281175,,,,,,chr1,111060669,111060669,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu247Leu/c.741A>G|511|KCNA10|protein_coding|CODING|NM_005549.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5869,0.7839,0.7336,0.67,0.56,0.73,,,,,,,,,,,,,,,,
synonymous_variant,KCNA10,SILENT,NM_005549.2:p.Glu116Glu/c.348A>G,gaA/gaG,LOW,,0.624201,0.5853,rs1281174,,,,,,chr1,111061062,111061062,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu116Glu/c.348A>G|511|KCNA10|protein_coding|CODING|NM_005549.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5869,0.7839,0.7336,0.67,0.56,0.73,,,,,,,,,,,,,,,,
missense_variant,LRIF1,MISSENSE,NM_018372.3:p.Ala438Thr/c.1312G>A,Gcc/Acc,MODERATE,COSM3747497(2),0.157748,0.0635,rs2232041,0.1(T),0.017(B),1.39(L),-0.9917(T),,chr1,111494194,111494194,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala438Thr/c.1312G>A|769|LRIF1|protein_coding|CODING|NM_018372.3|2|1),intron_variant(MODIFIER|||c.-12-1449G>A|233|LRIF1|protein_coding|CODING|NM_001006945.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1748,0.1081,0.2714,0.22,0.16,0.25,,0.678975(N),0.000(P),1.5(T),0.0248(T),0.023,0.874802,5.3,1.19,0.591000,0.393000,-0.526000,0.997000,0.997000,0.000000,4.2771
synonymous_variant,DENND2D,SILENT,NM_024901.4:p.Glu397Glu/c.1191G>A,gaG/gaA,LOW,,0.146965,0.002,rs608881,,,,,,chr1,111730901,111730901,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu394Glu/c.1182G>A|468|DENND2D|protein_coding|CODING|NM_001271833.1|11|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu397Glu/c.1191G>A|471|DENND2D|protein_coding|CODING|NM_024901.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1922,0.1628,0.2286,0.20,0.17,0.22,,,,,,,,,,,,,,,,
missense_variant,CHI3L2,MISSENSE,NM_004000.2:p.Ala182Val/c.545C>T,gCg/gTg,MODERATE,COSM4142132(1),0.0726837,0.0089,rs11556868,0.02(D),"0.919,0.919,0.919(D,D,D)",1.87(L),-1.1354(T),,chr1,111778325,111778325,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala172Val/c.515C>T|380|CHI3L2|protein_coding|CODING|NM_001025197.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala103Val/c.308C>T|311|CHI3L2|protein_coding|CODING|NM_001025199.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala182Val/c.545C>T|390|CHI3L2|protein_coding|CODING|NM_004000.2|6|1)","HUVEC:H3K27me3,GM06990:H3K36me3",,,,0.1513,0.0634,0.1223,0.10,0.04,0.13,,0.000786(D),0.000(P),"3.28,3.28,3.28,3.28,3.28,3.28,3.28,3.28,3.28,3.28,3.28(T,T,T,T,T,T,T,T,T,T,T)",0.0261(T),0.424,3.774289,3.39,3.39,0.561000,1.857000,1.881000,0.497000,0.993000,0.999000,12.661
synonymous_variant,CHI3L2,SILENT,NM_004000.2:p.Gln322Gln/c.966A>G,caA/caG,LOW,,0.999401,1,rs2494007,,,,,,chr1,111783996,111783996,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln312Gln/c.936A>G|380|CHI3L2|protein_coding|CODING|NM_001025197.1|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln243Gln/c.729A>G|311|CHI3L2|protein_coding|CODING|NM_001025199.1|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln322Gln/c.966A>G|390|CHI3L2|protein_coding|CODING|NM_004000.2|9|1)","IMR90:H3K27me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,OVGP1,MISSENSE,NM_002557.3:p.Glu676Gln/c.2026G>C,Gaa/Caa,MODERATE,,0.622404,0.7589,rs7825,1(T),"0.0,0.0(B,B)",-0.69(N),-0.9784(T),,chr1,111957097,111957097,C,G,het,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu676Gln/c.2026G>C|678|OVGP1|protein_coding|CODING|NM_002557.3|11|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.7168,0.353,0.4364,0.52,0.69,0.44,,0.000001(N),1.000(P),3.46(T),0.0017(T),0.035,-1.686550,4.26,0.154,-1.890000,-0.136000,0.052000,0.040000,0.001000,0.000000,2.7748
synonymous_variant,OVGP1,SILENT,NM_002557.3:p.Pro626Pro/c.1878C>T,ccC/ccT,LOW,COSM3750232(2),0.191693,0.1885,rs9629,,,,,,chr1,111957245,111957245,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro626Pro/c.1878C>T|678|OVGP1|protein_coding|CODING|NM_002557.3|11|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.2137,0.1945,0.2724,0.24,0.14,0.29,,,,,,,,,,,,,,,,
missense_variant,OVGP1,MISSENSE,NM_002557.3:p.Met477Thr/c.1430T>C,aTg/aCg,MODERATE,,0.631789,0.7718,rs2485319,0.72(T),"0.0,0.0(B,B)",-0.345(N),-0.9388(T),,chr1,111957693,111957693,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met477Thr/c.1430T>C|678|OVGP1|protein_coding|CODING|NM_002557.3|11|1),"HepG2:RXRA,HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:FOSL2",,,,0.7137,0.3573,0.4364,0.53,0.71,0.44,,0.003714(N),1.000(P),3.74(T),0.0018(T),0.004,-1.281576,3.58,-1.06,-1.636000,-0.608000,-0.339000,0.007000,0.000000,0.001000,4.4317
synonymous_variant,OVGP1,SILENT,NM_002557.3:p.Lys119Lys/c.357G>A,aaG/aaA,LOW,,0.15016,0.1389,rs954739,,,,,,chr1,111966291,111966291,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys119Lys/c.357G>A|678|OVGP1|protein_coding|CODING|NM_002557.3|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.2106,0.1282,0.2366,0.20,0.09,0.26,,,,,,,,,,,,,,,,
missense_variant,C1orf162,MISSENSE,NM_174896.3:p.Gly3Ser/c.7G>A,Ggc/Agc,MODERATE,,0.190096,0.1379,rs6703267,1(T),0.045(B),0.345(N),-1.0970(T),,chr1,112018657,112018657,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly3Ser/c.7G>A|130|C1orf162|protein_coding|CODING|NM_001300834.1|2|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly3Ser/c.7G>A|155|C1orf162|protein_coding|CODING|NM_174896.3|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu5Glu/c.15G>A|126|C1orf162|protein_coding|CODING|NM_001300835.1|2|1)","CD4:H3K4me3,CD4:H3K27ac,GM12878:H3K4me1,CD4:H3K4me2",,,,0.2106,0.1398,0.2386,0.24,0.20,0.27,,0.274047(N),1.000(P),"0.87,0.88(T,T)",0.0116(T),0.034,2.978115,4.55,-1.89,-0.165000,-0.329000,-1.138000,0.089000,0.008000,0.000000,0.9459
synonymous_variant,ADORA3,SILENT,NM_000677.3:p.Ala299Ala/c.897T>C,gcT/gcC,LOW,,0.773562,0.7579,rs2229155,,,,,,chr1,112042632,112042632,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala299Ala/c.897T>C|318|ADORA3|protein_coding|CODING|NM_000677.3|2|1),intron_variant(MODIFIER|||c.350+2995T>C|347|ADORA3|protein_coding|CODING|NM_020683.6|1|1),intron_variant(MODIFIER|||c.108-9248T>C|266|ADORA3|protein_coding|CODING|NM_001081976.1|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7178,0.8602,0.834,0.79,0.74,0.81,,,,,,,,,,,,,,,,
missense_variant,ADORA3,MISSENSE,NM_000677.3:p.Ile248Leu/c.742A>C,Atc/Ctc,MODERATE,,0.0595048,0.001,rs35511654,0.14(T),0.928(D),1.14(L),-0.4943(T),,chr1,112042787,112042787,T,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile248Leu/c.742A>C|318|ADORA3|protein_coding|CODING|NM_000677.3|2|1),intron_variant(MODIFIER|||c.350+2840A>C|347|ADORA3|protein_coding|CODING|NM_020683.6|1|1),intron_variant(MODIFIER|||c.108-9403A>C|266|ADORA3|protein_coding|CODING|NM_001081976.1|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0153,0.0836,0.1402,0.11,0.06,0.14,,,0.000(P),-0.84(T),0.3011(T),0.231,3.642415,5.01,3.86,0.528000,0.834000,3.192000,0.508000,0.998000,1.000000,10.9921
synonymous_variant,FAM212B,SILENT,NM_019099.4:p.Phe204Phe/c.612C>T,ttC/ttT,LOW,,0.860623,0.8254,rs197434,,,,,,chr1,112269872,112269872,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe204Phe/c.612C>T|297|FAM212B|protein_coding|CODING|NM_019099.4|2|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe189Phe/c.567C>T|282|FAM212B|protein_coding|CODING|NM_198926.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8855,0.7464,0.8191,0.86,0.93,0.82,,,,,,,,,,,,,,,,
synonymous_variant,DDX20,SILENT,NM_007204.4:p.Ala12Ala/c.36A>G,gcA/gcG,LOW,COSM423461(1),0.242412,0.0367,rs197392,,,,,,chr1,112298582,112298582,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala12Ala/c.36A>G|824|DDX20|protein_coding|CODING|NM_007204.4|1|1),upstream_gene_variant(MODIFIER||163||282|FAM212B|protein_coding|CODING|NM_198926.2||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,GM12878:ZBTB33,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,K562:TFIIIC-110,HUVEC:H3K9ac,H1ESC:SP1,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,HepG2:ZBTB33,K562:ZBTB33,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,NH-A:H3K27ac,K562:Cmyc,GM12878:MEF2A,K562:E2F6,K562:Cjun,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.1299,0.147,0.1978,0.27,0.44,0.19,,,,,,,,,,,,,,,,
synonymous_variant,DDX20,SILENT,NM_007204.4:p.Leu95Leu/c.283T>C,Ttg/Ctg,LOW,COSM3750236(2),0.472244,0.3403,rs197393,,,,,,chr1,112298829,112298829,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu95Leu/c.283T>C|824|DDX20|protein_coding|CODING|NM_007204.4|1|1),upstream_gene_variant(MODIFIER||410||282|FAM212B|protein_coding|CODING|NM_198926.2||1)","NHEK:H3K9ac,K562:H3K4me3,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:H3K79me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.3088,0.5014,0.4105,0.36,0.51,0.29,,,,,,,,,,,,,,,,
missense_variant,DDX20,MISSENSE,NM_007204.4:p.Ile636Thr/c.1907T>C,aTt/aCt,MODERATE,COSM4142147(1),0.474441,0.3403,rs197412,,"0.0,0.0(B,B)",-1.1(N),-0.9853(T),,chr1,112308953,112308953,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile636Thr/c.1907T>C|824|DDX20|protein_coding|CODING|NM_007204.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.5072,0.4185,0.48,0.67,0.39,,0.011173(N),0.998(P),"1.47,1.98(T,T)",0.0087(T),0.05,-2.070387,5.72,3.86,-0.766000,0.463000,2.183000,0.101000,0.331000,0.906000,5.1813
synonymous_variant,DDX20,SILENT,NM_007204.4:p.Val642Val/c.1926G>A,gtG/gtA,LOW,COSM3721436(2),0.479832,0.3403,rs197413,,,,,,chr1,112308972,112308972,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val642Val/c.1926G>A|824|DDX20|protein_coding|CODING|NM_007204.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.5115,0.4185,0.49,0.68,0.39,,,,,,,,,,,,,,,,
missense_variant,DDX20,MISSENSE,NM_007204.4:p.Arg693Ser/c.2077C>A,Cgt/Agt,MODERATE,,0.165935,0.003,rs197414,,"0.008,0.005(B,B)",0.69(N),-1.0569(T),,chr1,112309123,112309123,C,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg693Ser/c.2077C>A|824|DDX20|protein_coding|CODING|NM_007204.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0716,0.0965,0.1252,0.21,0.37,0.13,,0.000558(N),0.000(P),"1.5,2.06(T,T)",0.0228(T),0.044,0.140947,5.0,4.09,0.655000,1.476000,1.194000,0.024000,0.498000,0.005000,8.3507
missense_variant,DDX20,MISSENSE,NM_007204.4:p.Ile762Thr/c.2285T>C,aTa/aCa,MODERATE,COSM3750237(1),0.165935,0.003,rs85276,,"0.0,0.0(B,B)",-1.79(N),-0.9530(T),,chr1,112309331,112309331,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile762Thr/c.2285T>C|824|DDX20|protein_coding|CODING|NM_007204.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0716,0.0965,0.1252,0.21,0.37,0.13,,0.894524(N),1.000(P),"1.52,2.08(T,T)",0.0071(T),0.013,-1.996505,5.82,4.85,-0.119000,1.489000,0.737000,0.074000,0.002000,0.002000,8.6229
synonymous_variant,CTTNBP2NL,SILENT,NM_018704.2:p.Asn78Asn/c.234T>C,aaT/aaC,LOW,COSM146582(1),0.525359,0.4464,rs2256883,,,,,,chr1,112991698,112991698,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn78Asn/c.234T>C|639|CTTNBP2NL|protein_coding|CODING|NM_018704.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.5692,0.66,0.56,0.39,0.65,,,,,,,,,,,,,,,,
synonymous_variant,CTTNBP2NL,SILENT,NM_018704.2:p.Gln371Gln/c.1113G>A,caG/caA,LOW,,0.939696,1,rs1175641,,,,,,chr1,112999227,112999227,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln371Gln/c.1113G>A|639|CTTNBP2NL|protein_coding|CODING|NM_018704.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9387,0.9366,0.8608,0.88,0.93,0.86,,,,,,,,,,,,,,,,
synonymous_variant,WNT2B,SILENT,NM_024494.2:p.Gln390Gln/c.1170A>G,caA/caG,LOW,,0.483427,0.6151,rs910697,,,,,,chr1,113063125,113063125,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln298Gln/c.894A>G|299|WNT2B|protein_coding|CODING|NM_001291880.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln371Gln/c.1113A>G|372|WNT2B|protein_coding|CODING|NM_004185.4|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln390Gln/c.1170A>G|391|WNT2B|protein_coding|CODING|NM_024494.2|5|1)","GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.3262,0.4438,0.4612,0.48,0.51,0.46,,,,,,,,,,,,,,,,
missense_variant,ST7L,MISSENSE,NM_017744.4:p.Arg451Gln/c.1352G>A,cGa/cAa,MODERATE,COSM146584(1),0.1248,0.0893,rs6658555,,,1.765(L),-1.1284(T),,chr1,113098534,113098534,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg451Gln/c.1352G>A|575|ST7L|protein_coding|CODING|NM_017744.4|12|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg434Gln/c.1301G>A|558|ST7L|protein_coding|CODING|NM_138727.3|12|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg451Gln/c.1352G>A|544|ST7L|protein_coding|CODING|NM_138728.2|12|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg451Gln/c.1352G>A|555|ST7L|protein_coding|CODING|NM_138729.3|12|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.089,0.1196,0.2406,0.20,0.12,0.25,,,0.000(P),,0.0933(T),.,5.171196,5.59,5.59,0.585000,2.625000,6.086000,0.968000,0.997000,1.000000,19.1881
missense_variant,PPM1J,MISSENSE,NM_005167.5:p.Val236Ile/c.706G>A,Gtt/Att,MODERATE,,0.967851,1,rs10857971,0.6(T),"0.0,0.001(B,B)",-1.54(N),-0.9203(T),,chr1,113255389,113255389,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val236Ile/c.706G>A|505|PPM1J|protein_coding|CODING|NM_005167.5|3|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9899,1,0.96,0.89,1.00,,0.000000(N),1.000(P),"2.44,2.44(T,T)",0.0039(T),0.096,1.333652,5.84,4.72,-0.361000,0.486000,2.579000,0.983000,1.000000,1.000000,10.0513
synonymous_variant,LRIG2,SILENT,NM_014813.1:p.Thr708Thr/c.2124A>C,acA/acC,LOW,,0.901757,0.9504,rs1216793,,,,,,chr1,113657092,113657092,A,C,hom,synonymous_variant(LOW|SILENT|acA/acC|p.Thr708Thr/c.2124A>C|1065|LRIG2|protein_coding|CODING|NM_014813.1|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9847,0.9669,0.9891,0.90,0.74,0.99,,,,,,,,,,,,,,,,
synonymous_variant,MAGI3,SILENT,NM_001142782.1:p.Thr828Thr/c.2484A>G,acA/acG,LOW,,0.194289,0.0933,rs2359173,,,,,,chr1,114196495,114196495,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr828Thr/c.2484A>G|1481|MAGI3|protein_coding|CODING|NM_001142782.1|15|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr828Thr/c.2484A>G|1125|MAGI3|protein_coding|CODING|NM_152900.2|15|1)",HepG2:H3K36me3,,,,0.4049,0.2032,0.327,0.22,0.07,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RSBN1,SILENT,NM_018364.3:p.Pro127Pro/c.381A>G,ccA/ccG,LOW,COSM423491(3),0.121805,0.2282,rs3195954,,,,,,chr1,114354654,114354654,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro127Pro/c.381A>G|802|RSBN1|protein_coding|CODING|NM_018364.3|1|1),downstream_gene_variant(MODIFIER||1779||779|PTPN22|protein_coding|CODING|NM_001193431.1||1),downstream_gene_variant(MODIFIER||1779||752|PTPN22|protein_coding|CODING|NM_012411.4||1),downstream_gene_variant(MODIFIER||1779||807|PTPN22|protein_coding|CODING|NM_015967.5||1)","K562:ZBTB7A,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:Nanog,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,CD4:H2AK9ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.0971,0.1311,0.1869,0.13,0.04,0.17,,,,,,,,,,,,,,,,
synonymous_variant,RSBN1,SILENT,NM_018364.3:p.Arg31Arg/c.93A>C,cgA/cgC,LOW,COSM1560090(6),0.133786,0.2282,rs3789604,,,,,,chr1,114354942,114354942,T,G,het,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg31Arg/c.93A>C|802|RSBN1|protein_coding|CODING|NM_018364.3|1|1),downstream_gene_variant(MODIFIER||1491||779|PTPN22|protein_coding|CODING|NM_001193431.1||1),downstream_gene_variant(MODIFIER||1491||752|PTPN22|protein_coding|CODING|NM_012411.4||1),downstream_gene_variant(MODIFIER||1491||807|PTPN22|protein_coding|CODING|NM_015967.5||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:Nanog,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,K562:ETS1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HUVEC:PolII,K562:TFIIIC-110,GM12878:ETS1,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,K562:SIX5,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,GM12878:MEF2A,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,GM12878:TAF1,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,K562:BCLAF1,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.0971,0.1369,0.1879,0.15,0.08,0.18,,,,,,,,,,,,,,,,
missense_variant,PTPN22,MISSENSE,NM_015967.5:p.Trp620Arg/c.1858T>C,Tgg/Cgg,MODERATE,,0.972644,1,rs2476601,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",,-0.9056(T),,chr1,114377568,114377568,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp620Arg/c.1858T>C|779|PTPN22|protein_coding|CODING|NM_001193431.1|14|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp565Arg/c.1693T>C|752|PTPN22|protein_coding|CODING|NM_012411.4|12|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp620Arg/c.1858T>C|807|PTPN22|protein_coding|CODING|NM_015967.5|14|1)","GM12878:H3K36me3,HMEC:DNase1,GM06990:H3K36me3","Rheumatoid_arthritis,Myasthenia_gravis,Type_1_diabetes_autoantibodies,Crohn_s_disease,Rheumatoid_arthritis,Vitiligo,Rheumatoid_arthritis,Type_1_diabetes,Crohn_s_disease,Rheumatoid_arthritis,Type_1_diabetes,Type_1_diabetes",RCV000009460.1|RCV000009461.1|RCV000009462.1|RCV000009463.1|RCV000009464.1,,0.9867,0.964,0.9056,0.93,0.98,0.91,,0.000074(N),0.000(P),"4.64,4.29,2.54,4.59,4.16(T,T,T,T,T)",0.0043(T),0.347,-0.453819,5.87,2.7,-0.119000,0.351000,0.645000,0.954000,0.949000,0.969000,7.5165
missense_variant,BCL2L15,MISSENSE,NM_001010922.2:p.Asp90Asn/c.268G>A,Gac/Aac,MODERATE,,0.999401,1,rs1217381,0.98(T),0.002(B),0.895(L),-0.9192(T),,chr1,114424601,114424601,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp90Asn/c.268G>A|163|BCL2L15|protein_coding|CODING|NM_001010922.2|3|1),intron_variant(MODIFIER|||n.247-15889C>T||AP4B1-AS1||NON_CODING|NR_037864.1|3|1)",,,,,1,1,0.997,1.00,1.00,1.00,,1.000000(N),1.000(P),3.61(T),0.0028(T),0.004,-1.862848,5.85,-0.702,-0.977000,-0.360000,-1.532000,0.000000,0.000000,0.000000,7.7843
missense_variant,DCLRE1B,MISSENSE,NM_022836.3:p.His61Tyr/c.181C>T,Cac/Tac,MODERATE,COSM3750240(1),0.242212,0.5873,rs11552449,1(T),0.197(B),0.345(N),-1.0672(T),,chr1,114448389,114448389,C,T,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His61Tyr/c.181C>T|532|DCLRE1B|protein_coding|CODING|NM_022836.3|1|1),upstream_gene_variant(MODIFIER||864||739|AP4B1|protein_coding|CODING|NM_001253852.1||1),upstream_gene_variant(MODIFIER||648||640|AP4B1|protein_coding|CODING|NM_001253853.1||1),upstream_gene_variant(MODIFIER||648||739|AP4B1|protein_coding|CODING|NM_006594.3||1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",Breast_cancer,,,0.1462,0.3833,0.1909,0.13,0.04,0.17,,0.477046(N),1.000(P),-1.0(T),0.0892(T),0.024,1.687518,5.56,3.57,0.561000,1.337000,3.647000,0.677000,0.269000,0.995000,8.133
synonymous_variant,DCLRE1B,SILENT,NM_022836.3:p.His78His/c.234T>C,caT/caC,LOW,COSM3750241(1),0.243411,0.5903,rs3761936,,,,,,chr1,114449662,114449662,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His78His/c.234T>C|532|DCLRE1B|protein_coding|CODING|NM_022836.3|2|1),upstream_gene_variant(MODIFIER||1921||640|AP4B1|protein_coding|CODING|NM_001253853.1||1),upstream_gene_variant(MODIFIER||1921||739|AP4B1|protein_coding|CODING|NM_006594.3||1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1472,0.3833,0.1928,0.13,0.04,0.17,,,,,,,,,,,,,,,,
synonymous_variant,HIPK1,SILENT,NM_198268.2:p.Ala1072Ala/c.3216G>A,gcG/gcA,LOW,COSM4142169(1),0.486222,0.5238,rs2358996,,,,-0.9882(T),,chr1,114515717,114515717,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala678Ala/c.2034G>A|816|HIPK1|protein_coding|CODING|NM_181358.2|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1072Ala/c.3216G>A|1210|HIPK1|protein_coding|CODING|NM_198268.2|16|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala698Ala/c.2094G>A|836|HIPK1|protein_coding|CODING|NM_198269.2|15|1),downstream_gene_variant(MODIFIER||1019||1075|HIPK1|protein_coding|CODING|NM_152696.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4571,0.4366,0.4314,0.45,0.51,0.42,,,0.000(P),,0.0187(T),.,0.662757,5.82,-0.0111,-0.175000,-0.012000,-0.289000,0.993000,0.998000,0.393000,0.4926
synonymous_variant,SYT6,SILENT,NM_001270805.1:p.Ser131Ser/c.393G>A,tcG/tcA,LOW,COSM146587(2),0.207668,0.2579,rs17032441,,,,,,chr1,114680540,114680540,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser131Ser/c.393G>A|425|SYT6|protein_coding|CODING|NM_001270805.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser131Ser/c.393G>A|425|SYT6|protein_coding|CODING|NM_205848.3|3|1)","H1ESC:H3K36me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1646,0.1628,0.2078,0.20,0.19,0.21,,,,,,,,,,,,,,,,
missense_variant,TRIM33,MISSENSE,NM_015906.3:p.Ile840Thr/c.2519T>C,aTt/aCt,MODERATE,COSM3735916(1),0.85643,0.5823,rs6537825,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.805(N),-1.0659(T),,chr1,114948281,114948281,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile840Thr/c.2519T>C|1127|TRIM33|protein_coding|CODING|NM_015906.3|15|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile840Thr/c.2519T>C|1110|TRIM33|protein_coding|CODING|NM_033020.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9284,0.8012,0.9364,0.94,0.97,0.93,,0.000062(N),1.000(P),"-0.55,-0.46,-0.68(T,T,T)",0.0389(T),0.227,-0.087119,5.29,4.35,-0.320000,0.649000,2.976000,0.970000,0.997000,0.999000,10.7252
synonymous_variant,TRIM33,SILENT,NM_015906.3:p.Gln382Gln/c.1146A>G,caA/caG,LOW,COSM3750242(1),0.295727,0.0446,rs12083584,,,,-1.0106(T),,chr1,114973429,114973429,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln382Gln/c.1146A>G|1127|TRIM33|protein_coding|CODING|NM_015906.3|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln382Gln/c.1146A>G|1110|TRIM33|protein_coding|CODING|NM_033020.2|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.2392,0.325,0.37,0.44,0.33,,,0.000(P),,0.1051(T),.,0.780930,5.68,3.77,-0.186000,0.745000,1.835000,0.995000,1.000000,1.000000,10.7422
missense_variant,DENND2C,MISSENSE,NM_001256404.1:p.Asp170Gly/c.509A>G,gAc/gGc,MODERATE,COSM3735917(2),0.125599,0.0873,rs12136548,0.54(T),"0.0,0.0(B,B)",-0.665(N),-1.0591(T),,chr1,115168097,115168097,T,C,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp170Gly/c.509A>G|928|DENND2C|protein_coding|CODING|NM_001256404.1|4|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp170Gly/c.509A>G|871|DENND2C|protein_coding|CODING|NM_198459.3|2|1)","GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.1002,0.1787,0.2913,0.22,0.07,0.30,,0.061261(N),0.953(P),"3.78,3.78,1.0(T,T,T)",0.0113(T),0.031,1.066944,5.31,-1.64,0.528000,-0.223000,0.275000,0.979000,0.975000,0.998000,1.4474
missense_variant,DENND2C,MISSENSE,NM_001256404.1:p.Asp2Glu/c.6T>A,gaT/gaA,MODERATE,COSM3735919(2),0.114217,0.002,rs7541738,0.18(T),"0.024,0.016(B,B)",1.355(L),-0.9818(T),,chr1,115168600,115168600,A,T,het,"missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp2Glu/c.6T>A|928|DENND2C|protein_coding|CODING|NM_001256404.1|4|1),missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp2Glu/c.6T>A|871|DENND2C|protein_coding|CODING|NM_198459.3|2|1)","GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.1616,0.1441,0.2863,0.20,0.06,0.28,,0.023706(N),0.390(P),"3.46,3.61,2.96(T,T,T)",0.0084(T),0.095,2.012818,5.71,4.54,0.524000,2.187000,0.645000,0.998000,1.000000,0.277000,1.8171
missense_variant,TSHB,MISSENSE,NM_000549.4:p.Thr14Ala/c.40A>G,Aca/Gca,MODERATE,,0.983626,1,rs10776792,1(T),0.0(B),-0.46(N),-1.0391(T),,chr1,115576023,115576023,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr14Ala/c.40A>G|138|TSHB|protein_coding|CODING|NM_000549.4|2|1),upstream_gene_variant(MODIFIER||544||93|TSHB|protein_coding|CODING|NM_001277991.1||1)","HUVEC:H3K27me3,HMEC:H3K27me3,HSMM:H3K27me3",,,,0.9591,0.9942,0.9622,0.98,0.99,0.97,,0.931747(N),1.000(P),"0.36,0.36(T,T)",0.0134(T),0.048,-1.619774,5.96,-1.69,-1.595000,-0.615000,0.224000,0.003000,0.009000,0.058000,2.1733
synonymous_variant,TSPAN2,SILENT,NM_005725.4:p.Gly76Gly/c.228G>A,ggG/ggA,LOW,COSM423531(1),0.320088,0.4921,rs10776795,,,,,,chr1,115604798,115604798,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly76Gly/c.228G>A|221|TSPAN2|protein_coding|CODING|NM_005725.4|3|1),CD4:H3K4me1,,,,0.1769,0.3343,0.3012,0.29,0.29,0.29,,,,,,,,,,,,,,,,
missense_variant,NGF,MISSENSE,NM_002506.2:p.Ala35Val/c.104C>T,gCc/gTc,MODERATE,COSM3735921(2),0.247404,0.1637,rs6330,0.03(D),0.003(B),1.79(L),-1.0015(T),,chr1,115829313,115829313,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala35Val/c.104C>T|241|NGF|protein_coding|CODING|NM_002506.2|3|1),"GM06990:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1902,0.3228,0.4563,0.37,0.21,0.45,,0.137281(N),0.254(P),0.09(T),0.0837(T),0.037,2.927347,5.36,4.45,0.467000,1.264000,2.298000,0.986000,0.977000,0.997000,5.8933
synonymous_variant,CASQ2,SILENT,NM_001232.3:p.Asp398Asp/c.1194T>C,gaT/gaC,LOW,,0.0309505,0,rs28730711,,,,,,chr1,116243868,116243868,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp398Asp/c.1194T>C|399|CASQ2|protein_coding|CODING|NM_001232.3|11|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3",,RCV000037135.1,,0.0399,0.0865,0.0537,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A15,SILENT,NM_018420.2:p.Ser96Ser/c.288C>T,tcC/tcT,LOW,,0.435304,0.4196,rs4046190,,,,,,chr1,116534852,116534852,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser96Ser/c.288C>T|547|SLC22A15|protein_coding|CODING|NM_018420.2|2|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.6074,0.4827,0.6441,0.49,0.20,0.62,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A15,SILENT,NM_018420.2:p.Leu205Leu/c.615G>C,ctG/ctC,LOW,,0.903355,0.874,rs2488429,,,,,,chr1,116569530,116569530,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu205Leu/c.615G>C|547|SLC22A15|protein_coding|CODING|NM_018420.2|5|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.9796,0.8674,0.9543,0.93,0.88,0.95,,,,,,,,,,,,,,,,
synonymous_variant,ATP1A1,SILENT,NM_000701.7:p.Leu548Leu/c.1644C>T,ctC/ctT,LOW,,,,rs375787318,,,,,,chr1,116936329,116936329,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu548Leu/c.1644C>T|1023|ATP1A1|protein_coding|CODING|NM_000701.7|12|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu548Leu/c.1644C>T|1023|ATP1A1|protein_coding|CODING|NM_001160233.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu517Leu/c.1551C>T|992|ATP1A1|protein_coding|CODING|NM_001160234.1|12|1),intron_variant(MODIFIER|||n.401-681G>A||ATP1A1-AS1||NON_CODING|NR_027646.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,ATP1A1,MISSENSE,NM_000701.7:p.Ile580Val/c.1738A>G,Atc/Gtc,MODERATE,COSM3747504(1),0.0091853,0,rs77217304,0.57(T),"0.001,0.001(B,B)",0.2(N),-0.9811(T),,chr1,116937809,116937809,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile580Val/c.1738A>G|1023|ATP1A1|protein_coding|CODING|NM_000701.7|13|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile580Val/c.1738A>G|1023|ATP1A1|protein_coding|CODING|NM_001160233.1|13|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile549Val/c.1645A>G|992|ATP1A1|protein_coding|CODING|NM_001160234.1|13|1),intron_variant(MODIFIER|||n.401-2161T>C||ATP1A1-AS1||NON_CODING|NR_027646.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0202,0.0239,0.02,0.01,0.03,,0.032547(N),1.000(N),"-0.98,-0.98,-0.98(T,T,T)",0.0549(T),0.021,-0.025753,4.54,-2.67,-0.177000,-0.556000,0.865000,0.442000,0.002000,0.035000,5.1931
missense_variant,IGSF3,MISSENSE,NM_001542.3:p.Gln1093Arg/c.3278A>G,cAa/cGa,MODERATE,COSM4142188(1),0.344249,0.5169,rs6703791,0.52(T),"0.0,0.0(B,B)",0.345(N),-0.9946(T),,chr1,117122130,117122130,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln1073Arg/c.3218A>G|1194|IGSF3|protein_coding|CODING|NM_001007237.2|10|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln1093Arg/c.3278A>G|1214|IGSF3|protein_coding|CODING|NM_001542.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3732,0.304,0.167,0.24,0.35,0.18,,0.336820(N),1.000(P),"2.02,2.02,2.02(T,T,T)",0.0108(T),0.006,-1.511898,4.67,-4.48,-1.403000,-1.780000,-0.212000,0.063000,0.001000,0.000000,15.5741
missense_variant,IGSF3,MISSENSE,NM_001542.3:p.Asp1040Glu/c.3120C>G,gaC/gaG,MODERATE,COSM1333059(1),0.261581,0.1101,rs647711,0.83(T),"0.0,0.0(B,B)",0(N),-0.9024(T),,chr1,117122288,117122288,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1020Glu/c.3060C>G|1194|IGSF3|protein_coding|CODING|NM_001007237.2|10|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1040Glu/c.3120C>G|1214|IGSF3|protein_coding|CODING|NM_001542.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.3241,0.3141,0.4324,0.24,0.13,0.29,,0.637693(N),1.000(P),"4.08,3.95,3.95(T,T,T)",0.0014(T),0.048,-2.465162,2.68,-5.35,-1.748000,-2.572000,-1.686000,0.094000,0.000000,0.000000,7.1155
synonymous_variant,PTGFRN,SILENT,NM_020440.2:p.Pro276Pro/c.828A>G,ccA/ccG,LOW,COSM3750268(2),0.859425,0.8452,rs10159095,,,,,,chr1,117487710,117487710,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro276Pro/c.828A>G|879|PTGFRN|protein_coding|CODING|NM_020440.2|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.9325,0.9222,0.8966,0.64,0.53,0.70,,,,,,,,,,,,,,,,
missense_variant,PTGFRN,MISSENSE,NM_020440.2:p.Ser277Thr/c.829T>A,Tca/Aca,MODERATE,COSM3750269(2),0.859425,0.8452,rs4546904,1(T),0.001(B),-0.975(N),-0.9184(T),,chr1,117487711,117487711,T,A,hom,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser277Thr/c.829T>A|879|PTGFRN|protein_coding|CODING|NM_020440.2|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.9325,0.9222,0.8966,0.64,0.52,0.70,,0.000016(N),1.000(P),3.82(T),0.0013(T),0.05,-0.044773,5.49,5.49,-0.364000,0.930000,4.215000,0.819000,0.784000,0.998000,10.2232
missense_variant,PTGFRN,MISSENSE,NM_020440.2:p.Val837Ile/c.2509G>A,Gtc/Atc,MODERATE,COSM3750270(1),0.498003,0.6597,rs10801922,0.84(T),0.003(B),-0.55(N),-0.9328(T),,chr1,117529458,117529458,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val837Ile/c.2509G>A|879|PTGFRN|protein_coding|CODING|NM_020440.2|9|1),"CD4:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,K562:CTCF,CD4:H2BK20ac,HUVEC:H3K36me3,K562:H3K4me1,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,CD4:H3K4me3,CD4:H3K27ac,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,CD4:H4K5ac,CD4:H2BK120ac,CD4:H3K9ac,K562:DNase1",,,,0.591,0.5951,0.4364,0.40,0.31,0.44,,0.050303(N),1.000(P),3.64(T),0.0018(T),0.034,0.953437,6.17,0.122,-0.137000,0.115000,0.593000,0.976000,0.726000,0.796000,11.6594
missense_variant,CD101,MISSENSE,NM_001256106.2:p.Asn225Ser/c.674A>G,aAc/aGc,MODERATE,,0.150359,0.0635,rs3754112,0.14(T),0.001(B),0(N),-1.0822(T),,chr1,117554421,117554421,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn225Ser/c.674A>G|1021|CD101|protein_coding|CODING|NM_001256106.2|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn225Ser/c.674A>G|1021|CD101|protein_coding|CODING|NM_001256109.2|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn225Ser/c.674A>G|1021|CD101|protein_coding|CODING|NM_004258.5|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn163Ser/c.488A>G|959|CD101|protein_coding|CODING|NM_001256111.2|3|1)",NHEK:H3K36me3,,,,0.1677,0.2017,0.337,0.24,0.09,0.32,,0.287292(N),0.992(P),"-0.07,-0.07(T,T)",0.0382(T),0.007,0.812367,5.57,-2.28,-0.285000,-0.239000,0.914000,0.004000,0.077000,0.989000,6.0936
missense_variant,CD101,MISSENSE,NM_001256106.2:p.Met415Val/c.1243A>G,Atg/Gtg,MODERATE,,0.935304,0.8462,rs2249265,1(T),0.0(B),-1.445(N),-1.0532(T),,chr1,117559726,117559726,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met415Val/c.1243A>G|1021|CD101|protein_coding|CODING|NM_001256106.2|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met415Val/c.1243A>G|1021|CD101|protein_coding|CODING|NM_001256109.2|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met353Val/c.1057A>G|959|CD101|protein_coding|CODING|NM_001256111.2|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met415Val/c.1243A>G|1021|CD101|protein_coding|CODING|NM_004258.5|5|1)","HUVEC:H3K27me3,GM12878:EBF,NHEK:H3K36me3",,,,0.9366,0.9625,0.9602,0.98,0.97,0.98,,0.681088(N),1.000(P),"-0.1,-0.1(T,T)",0.0105(T),0.024,-2.915430,4.83,-8.2,-1.874000,-1.822000,-1.273000,0.108000,0.000000,0.000000,1.2866
synonymous_variant,CD101,SILENT,NM_001256106.2:p.Gln551Gln/c.1653A>G,caA/caG,LOW,COSM3750272(1),0.344449,0.6181,rs3736908,,,,,,chr1,117560818,117560818,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln551Gln/c.1653A>G|1021|CD101|protein_coding|CODING|NM_001256106.2|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln551Gln/c.1653A>G|1021|CD101|protein_coding|CODING|NM_001256109.2|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln489Gln/c.1467A>G|959|CD101|protein_coding|CODING|NM_001256111.2|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln551Gln/c.1653A>G|1021|CD101|protein_coding|CODING|NM_004258.5|6|1)","HUVEC:H3K27me3,NHEK:H3K36me3",,,,0.4673,0.4438,0.2813,0.21,0.08,0.28,,,,,,,,,,,,,,,,
synonymous_variant,CD101,SILENT,NM_001256106.2:p.Ile588Ile/c.1764C>A,atC/atA,LOW,COSM3750273(1),0.209665,0.2054,rs3736907,,,,,,chr1,117560929,117560929,C,A,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile588Ile/c.1764C>A|1021|CD101|protein_coding|CODING|NM_001256106.2|6|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile588Ile/c.1764C>A|1021|CD101|protein_coding|CODING|NM_001256109.2|6|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile526Ile/c.1578C>A|959|CD101|protein_coding|CODING|NM_001256111.2|6|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile588Ile/c.1764C>A|1021|CD101|protein_coding|CODING|NM_004258.5|6|1)",NHEK:H3K36me3,,,,0.3303,0.3876,0.2326,0.18,0.05,0.24,,,,,,,,,,,,,,,,
missense_variant,TTF2,MISSENSE,NM_003594.3:p.Lys167Glu/c.499A>G,Aaa/Gaa,MODERATE,COSM3750274(1),0.514577,0.7679,rs998532,0.08(T),"0.004,0.063(B,B)",0.77(N),-0.9325(T),,chr1,117617705,117617705,A,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys167Glu/c.499A>G|1162|TTF2|protein_coding|CODING|NM_003594.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.6671,0.5934,0.47,0.21,0.60,,0.018493(N),1.000(P),-2.32(D),0.2236(T),0.078,0.831161,5.59,0.438,0.455000,0.102000,0.349000,0.004000,0.003000,0.972000,5.315
synonymous_variant,TTF2,SILENT,NM_003594.3:p.Asn287Asn/c.861C>T,aaC/aaT,LOW,COSM3750275(1),0.513778,0.7679,rs1289673,,,,,,chr1,117618067,117618067,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn287Asn/c.861C>T|1162|TTF2|protein_coding|CODING|NM_003594.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.6686,0.5934,0.47,0.20,0.60,,,,,,,,,,,,,,,,
missense_variant,TRIM45,MISSENSE,NM_025188.3:p.Met496Thr/c.1487T>C,aTg/aCg,MODERATE,,0.445088,0.1865,rs1289658,0.85(T),"0.0,0.0(B,B)",-1.155(N),-0.9603(T),,chr1,117656088,117656088,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met478Thr/c.1433T>C|562|TRIM45|protein_coding|CODING|NM_001145635.1|5|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met496Thr/c.1487T>C|580|TRIM45|protein_coding|CODING|NM_025188.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3824,0.4755,0.4364,0.48,0.62,0.40,,0.095923(N),1.000(P),"2.08,1.08,2.08(T,T,T)",0.0087(T),0.335,-2.228181,4.96,3.99,-0.213000,0.562000,0.149000,0.342000,0.629000,0.023000,3.8833
missense_variant,TRIM45,MISSENSE,NM_025188.3:p.Cys375Tyr/c.1124G>A,tGt/tAt,MODERATE,,0.224641,0.0327,rs386610715,0.82(T),"0.0,0.0(B,B)",-0.345(N),-1.0990(T),,chr1,117660754,117660754,C,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys375Tyr/c.1124G>A|580|TRIM45|protein_coding|CODING|NM_025188.3|2|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys375Tyr/c.1124G>A|562|TRIM45|protein_coding|CODING|NM_001145635.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2086,0.3674,0.3529,0.30,0.23,0.33,,0.240719(N),0.998(P),"-1.38,-1.56,-1.09(T,D,T)",0.0812(T),0.073,-2.538963,4.75,0.722,-0.165000,-0.013000,1.358000,0.040000,0.888000,0.990000,5.3998
synonymous_variant,FAM46C,SILENT,NM_017709.3:p.Asn161Asn/c.483C>T,aaC/aaT,LOW,,0.279752,0.2391,rs1627787,,,,,,chr1,118165973,118165973,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn161Asn/c.483C>T|391|FAM46C|protein_coding|CODING|NM_017709.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,CD4:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2689,0.3127,0.2266,0.26,0.32,0.22,,,,,,,,,,,,,,,,
synonymous_variant,FAM46C,SILENT,NM_017709.3:p.Ile202Ile/c.606C>T,atC/atT,LOW,,0.134385,0.1141,rs2884587,,,,,,chr1,118166096,118166096,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile202Ile/c.606C>T|391|FAM46C|protein_coding|CODING|NM_017709.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2219,0.2233,0.164,0.13,0.05,0.17,,,,,,,,,,,,,,,,
synonymous_variant,HAO2,SILENT,NM_001005783.2:p.Leu19Leu/c.55T>C,Ttg/Ctg,LOW,COSM3747508(1),0.358227,0.4504,rs2275607,,,,,,chr1,119923724,119923724,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu19Leu/c.55T>C|364|HAO2|protein_coding|CODING|NM_001005783.2|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu6Leu/c.16T>C|351|HAO2|protein_coding|CODING|NM_016527.3|2|1)",,,,,0.3446,0.5216,0.5298,0.40,0.19,0.52,,,,,,,,,,,,,,,,
synonymous_variant,HSD3B1,SILENT,NM_000862.2:p.Leu338Leu/c.1012C>T,Ctg/Ttg,LOW,COSM3747510(3),0.366813,0.6528,rs6203,,,,,,chr1,120057158,120057158,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu338Leu/c.1012C>T|373|HSD3B1|protein_coding|CODING|NM_000862.2|4|1),NHEK:H3K27me3,,,,0.3814,0.4813,0.4254,0.32,0.10,0.43,,,,,,,,,,,,,,,,
missense_variant,HSD3B1,MISSENSE,NM_000862.2:p.Thr367Asn/c.1100C>A,aCc/aAc,MODERATE,COSM3747511(2),0.833466,0.9177,rs1047303,0.37(T),"0.022,0.025(B,B)",2.44(M),-1.0614(T),,chr1,120057246,120057246,C,A,hom,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr367Asn/c.1100C>A|373|HSD3B1|protein_coding|CODING|NM_000862.2|4|1),NHEK:H3K27me3,,,,0.8425,0.7954,0.66,0.75,0.88,0.68,,0.233454(N),1.000(P),"-0.58,-0.58,-0.58(T,T,T)",0.1510(T),0.029,-1.631737,3.26,-0.043,-2.061000,0.216000,-0.086000,0.058000,0.007000,0.000000,4.8389
synonymous_variant,ZNF697,SILENT,NM_001080470.1:p.Pro380Pro/c.1140G>A,ccG/ccA,LOW,,0.715855,0.7738,rs12076924,,,,,,chr1,120165826,120165826,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro380Pro/c.1140G>A|545|ZNF697|protein_coding|CODING|NM_001080470.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.6484,0.5845,0.68,0.83,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ZNF697,SILENT,NM_001080470.1:p.Ser95Ser/c.285C>T,tcC/tcT,LOW,COSM3750291(2),0.672324,0.7758,rs12067843,,,,,,chr1,120166681,120166681,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser95Ser/c.285C>T|545|ZNF697|protein_coding|CODING|NM_001080470.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.636,0.5893,0.503,0.58,0.76,0.49,,,,,,,,,,,,,,,,
synonymous_variant,PHGDH,SILENT,NM_006623.3:p.Thr442Thr/c.1326G>A,acG/acA,LOW,COSM3930297(2),0.722244,0.622,rs543703,,,,,,chr1,120285546,120285546,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr442Thr/c.1326G>A|533|PHGDH|protein_coding|CODING|NM_006623.3|11|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7965,0.7478,0.668,0.71,0.75,0.68,,,,,,,,,,,,,,,,
synonymous_variant,NBPF7,SILENT,NM_001047980.2:p.Gln356Gln/c.1068G>A,caG/caA,LOW,COSM3996786(1),0.628395,0.4673,rs3009182,,,,,,chr1,120378678,120378678,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln356Gln/c.1068G>A|421|NBPF7|protein_coding|CODING|NM_001047980.2|7|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8405,0.7118,0.8121,0.69,0.48,0.79,,,,,,,,,,,,,,,,
synonymous_variant,NBPF7,SILENT,NM_001047980.2:p.Val119Val/c.357T>C,gtT/gtC,LOW,COSM3996787(1),0.625,0.4673,rs2994820,,,,,,chr1,120384205,120384205,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val119Val/c.357T>C|421|NBPF7|protein_coding|CODING|NM_001047980.2|3|1),"HUVEC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8405,0.7118,0.8121,0.68,0.45,0.79,,,,,,,,,,,,,,,,
synonymous_variant,NBPF7,SILENT,NM_001047980.2:p.Thr13Thr/c.39C>T,acC/acT,LOW,,0.358027,0.3641,rs12405228,,,,,,chr1,120387120,120387120,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr13Thr/c.39C>T|421|NBPF7|protein_coding|CODING|NM_001047980.2|1|1),"NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,HMEC:H3K27me3,NH-A:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,H1ESC:CTCF,GM06990:CTCF",,,,0.4591,0.4827,0.5835,0.42,0.12,0.57,,,,,,,,,,,,,,,,
missense_variant,NOTCH2,MISSENSE,NM_024408.3:p.Cys19Trp/c.57C>G,tgC/tgG,MODERATE,COSM132738(4),,,rs11810554,0(D),,0.345(N),-1.0476(T),,chr1,120611964,120611964,G,C,het,"missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys19Trp/c.57C>G|1235|NOTCH2|protein_coding|CODING|NM_001200001.1|1|1),missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys19Trp/c.57C>G|2471|NOTCH2|protein_coding|CODING|NM_024408.3|1|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K27me3,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,,,,,,,,,0.970(N),,0.0360(T),.,0.421956,3.09,2.04,0.184000,1.760000,0.766000,0.313000,0.998000,0.998000,6.7594
synonymous_variant,NOTCH2,SILENT,NM_024408.3:p.Arg5Arg/c.15C>T,cgC/cgT,LOW,,0.39397,0.4315,rs4021006,,,,,,chr1,120612006,120612006,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg5Arg/c.15C>T|1235|NOTCH2|protein_coding|CODING|NM_001200001.1|1|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg5Arg/c.15C>T|2471|NOTCH2|protein_coding|CODING|NM_024408.3|1|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,NHEK:PolII,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K27me3,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.4744,0.4049,0.4423,,,,,,1.000(D),,,.,1.169358,2.9,1.95,0.184000,0.543000,1.074000,0.588000,0.959000,0.988000,5.0819
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Ile2314Ile/c.6942T>C,atT/atC,LOW,COSM4142460(2),,,rs78461771,,,,,,chr1,144854528,144854528,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile2208Ile/c.6624T>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|44|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile2314Ile/c.6942T>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|42|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile2314Ile/c.6942T>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|42|1),intron_variant(MODIFIER|||c.5357+29772A>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+26600A>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Glu2311Glu/c.6933A>G,gaA/gaG,LOW,COSM4142461(1),,,rs3851872,,,,,,chr1,144854537,144854537,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu2205Glu/c.6615A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|44|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu2311Glu/c.6933A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|42|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu2311Glu/c.6933A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|42|1),intron_variant(MODIFIER|||c.5357+29781T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+26609T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Leu2292Leu/c.6876C>A,ctC/ctA,LOW,COSM4142467(2),0.441094,0.4464,rs79028512,,,,,,chr1,144854594,144854594,G,T,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu2186Leu/c.6558C>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|44|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu2292Leu/c.6876C>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|42|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu2292Leu/c.6876C>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|42|1),intron_variant(MODIFIER|||c.5357+29838G>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+26666G>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4693,0.3804,0.3191,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Arg2291Arg/c.6873A>G,cgA/cgG,LOW,,0.441094,0.4464,rs3851873,,,,,,chr1,144854597,144854597,T,C,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg2185Arg/c.6555A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|44|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg2291Arg/c.6873A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|42|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg2291Arg/c.6873A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|42|1),intron_variant(MODIFIER|||c.5357+29841T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+26669T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4693,0.3804,0.3191,,,,,,,,,,,,,,,,,,,
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Arg2291Gln/c.6872G>A,cGa/cAa,MODERATE,COSM3930333(4),,,rs3863691,1(T),"0.0,0.001(B,B)",0(N),-0.9178(T),,chr1,144854598,144854598,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2185Gln/c.6554G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|44|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2291Gln/c.6872G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|42|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2291Gln/c.6872G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|42|1),intron_variant(MODIFIER|||c.5357+29842C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+26670C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"4.74,4.83,4.81,4.84,4.83(T,T,T,T,T)",0.0006(T),0.088,-1.808339,4.0,-6.67,-0.432000,-1.278000,-1.259000,0.013000,0.000000,0.000000,3.778
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Asp1910Glu/c.5730C>A,gaC/gaA,MODERATE,,,,rs1613780,1(T),"0.0,0.0(B,B)",-2.045(N),-0.9629(T),,chr1,144865850,144865850,G,T,het,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp1804Glu/c.5412C>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|37|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp1910Glu/c.5730C>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|35|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp1910Glu/c.5730C>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|35|1),intron_variant(MODIFIER|||c.5357+41094G>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+37922G>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"5.16,5.34,5.35,5.3,5.32(T,T,T,T,T)",0.0068(T),0.209,-0.992159,5.72,3.3,-0.264000,0.078000,0.393000,0.203000,0.998000,0.998000,4.6017
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Arg1867Cys/c.5599C>T,Cgc/Tgc,MODERATE,,,,rs1620560,0.01(D),"0.01,0.995(B,D)",2.365(M),-1.0990(T),,chr1,144866643,144866643,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1761Cys/c.5281C>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|36|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1867Cys/c.5599C>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|34|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1867Cys/c.5599C>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|34|1),intron_variant(MODIFIER|||c.5357+41887G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+38715G>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"3.9,3.94,3.93,3.99,3.97(T,T,T,T,T)",0.0190(T),0.513,2.134960,5.13,2.24,-0.781000,0.330000,1.088000,0.029000,0.975000,0.996000,6.2868
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Glu1860Glu/c.5580A>G,gaA/gaG,LOW,,,,rs1064044,,,,-1.0745(T),,chr1,144866662,144866662,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1754Glu/c.5262A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|36|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1860Glu/c.5580A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|34|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1860Glu/c.5580A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|34|1),intron_variant(MODIFIER|||c.5357+41906T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+38734T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,0.000(P),,0.0552(T),.,1.472556,5.13,2.05,-0.128000,0.354000,0.268000,0.959000,1.000000,0.996000,6.8472
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Ala1757Thr/c.5269G>A,Gcc/Acc,MODERATE,,,,rs1628310,0.44(T),"0.022,0.013(B,B)",0.55(N),-0.9241(T),,chr1,144868170,144868170,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1651Thr/c.4951G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|35|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1757Thr/c.5269G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|33|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1757Thr/c.5269G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|33|1),splice_region_variant(LOW|||c.4951G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|35|1),splice_region_variant(LOW|||c.5269G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|33|1),splice_region_variant(LOW|||c.5269G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|33|1),intron_variant(MODIFIER|||c.5357+43414C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+40242C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"4.71,4.88,4.88,4.87,4.87(T,T,T,T,T)",0.0016(T),0.026,1.491553,5.44,2.4,0.650000,0.870000,0.085000,0.763000,0.956000,0.906000,6.3626
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Ala1742Ser/c.5224G>T,Gct/Tct,MODERATE,,,,rs1698605,0.48(T),0.985(D),1.995(M),-0.7976(T),,chr1,144871738,144871738,C,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala1742Ser/c.5224G>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|32|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala1742Ser/c.5224G>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|32|1),intron_variant(MODIFIER|||c.5357+46982C>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+43810C>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.4948+2139G>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|34|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,,,,,,,,,,,1.000(D),"4.69,4.69,4.58,4.7(T,T,T,T)",0.0150(T),0.179,5.071375,5.97,5.97,0.650000,2.834000,6.650000,0.968000,1.000000,1.000000,17.9176
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Val1736Glu/c.5207T>A,gTg/gAg,MODERATE,,,,rs1778159,0.32(T),0.069(B),1.59(L),-0.9310(T),,chr1,144871755,144871755,A,T,het,"missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val1736Glu/c.5207T>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|32|1),missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val1736Glu/c.5207T>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|32|1),intron_variant(MODIFIER|||c.5357+46999A>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+43827A>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.4948+2122T>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|34|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,,,,,,,,,,,1.000(N),"4.8,4.8,4.81,4.8(T,T,T,T)",0.0021(T),0.271,2.221371,5.97,0.597,-0.321000,0.127000,0.238000,0.921000,0.034000,0.001000,7.6455
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Leu1727Pro/c.5180T>C,cTc/cCc,MODERATE,,,,rs1778158,1(T),0.0(B),-1.935(N),-0.9388(T),,chr1,144871782,144871782,A,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1727Pro/c.5180T>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|32|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1727Pro/c.5180T>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|32|1),intron_variant(MODIFIER|||c.5357+47026A>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+43854A>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.4948+2095T>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|34|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,,,,,,,,,,,1.000(D),"4.86,4.85,4.81,4.85(T,T,T,T)",0.0006(T),0.116,0.261421,5.97,5.97,-0.128000,1.549000,3.094000,0.885000,1.000000,1.000000,13.2804
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Gln1690Gln/c.5070G>A,caG/caA,LOW,,,,rs1699787,,,,,,chr1,144873887,144873887,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1646Gln/c.4938G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|34|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1690Gln/c.5070G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|31|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1690Gln/c.5070G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|31|1),intron_variant(MODIFIER|||c.5357+49131C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+45959C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Glu1616Glu/c.4848A>G,gaA/gaG,LOW,COSM4142484(1),,,rs1610774,,,,,,chr1,144874760,144874760,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1572Glu/c.4716A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|33|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1616Glu/c.4848A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|30|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1616Glu/c.4848A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|30|1),intron_variant(MODIFIER|||c.5357+50004T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+46832T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.His1598Arg/c.4793A>G,cAt/cGt,MODERATE,COSM1737825(3),,,rs1778155,0.15(T),"0.001,0.006(B,B)",0.395(N),-0.9228(T),,chr1,144874815,144874815,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1554Arg/c.4661A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|33|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1598Arg/c.4793A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|30|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1598Arg/c.4793A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|30|1),intron_variant(MODIFIER|||c.5357+50059T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+46887T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.27,0.20,0.30,,,1.000(D),"4.21,4.32,4.31,4.33,4.33(T,T,T,T,T)",0.0028(T),0.049,1.664153,5.91,-6.68,-0.137000,-1.172000,-0.066000,0.836000,0.003000,0.002000,16.709
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Arg1504Gln/c.4511G>A,cGg/cAg,MODERATE,,,,rs2762875,1(T),"0.0,0.0(B,B)",-2.325(N),-0.9910(T),,chr1,144877176,144877176,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1460Gln/c.4379G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|31|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1504Gln/c.4511G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|28|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1504Gln/c.4511G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|28|1),intron_variant(MODIFIER|||c.5357+52420C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+49248C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:TAF7,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,K562:HEY1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,1.000(D),"5.39,5.52,5.54,5.5,5.49(T,T,T,T,T)",0.0003(T),0.307,0.263515,5.18,5.18,-0.269000,0.994000,5.444000,0.444000,0.995000,1.000000,9.3201
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Trp1396Arg/c.4186T>C,Tgg/Cgg,MODERATE,,0.710064,0.9296,rs2798901,0.82(T),"0.0,0.0(B,B)",-1.995(N),-1.0616(T),,chr1,144879264,144879264,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1352Arg/c.4054T>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|30|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1396Arg/c.4186T>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|27|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1396Arg/c.4186T>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|27|1),intron_variant(MODIFIER|||c.5357+54508A>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+51336A>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.773,0.7248,0.6451,,,,,,0.000(P),"5.05,5.13,5.15,5.14,5.13(T,T,T,T,T)",0.0003(T),0.166,-0.586922,5.55,-0.119,-0.930000,-0.204000,0.849000,0.890000,0.334000,0.009000,6.4534
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Lys1359Glu/c.4075A>G,Aaa/Gaa,MODERATE,,,,rs1747958,0.92(T),"0.008,0.053(B,B)",0.695(N),-0.9762(T),,chr1,144879375,144879375,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1315Glu/c.3943A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|30|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1359Glu/c.4075A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|27|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1359Glu/c.4075A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|27|1),intron_variant(MODIFIER|||c.5357+54619T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+51447T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,0.788(N),"4.78,4.86,4.89,4.9,4.88(T,T,T,T,T)",0.0011(T),0.065,0.733504,5.08,-0.444,0.529000,0.068000,0.385000,0.685000,0.269000,0.897000,7.421
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Ile1146Ile/c.3438T>C,atT/atC,LOW,,,,rs1699836,,,,,,chr1,144882581,144882581,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1146Ile/c.3438T>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|24|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1146Ile/c.3438T>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|24|1),intron_variant(MODIFIER|||c.5357+57825A>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+54653A>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.3441+195T>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|27|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),,,.,0.775470,6.11,-11.6,-0.119000,-2.229000,-4.503000,0.084000,0.000000,0.000000,7.7056
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Ala1066Thr/c.3196G>A,Gca/Aca,MODERATE,,,,rs1698647,0.58(T),"0.995,0.563(D,P)",0.805(L),-0.5299(T),,chr1,144882823,144882823,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1066Thr/c.3196G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|24|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1066Thr/c.3196G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|24|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1132Thr/c.3394G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|27|1),intron_variant(MODIFIER|||c.5357+58067C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+54895C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"4.54,4.68,4.68,4.69,4.69(T,T,T,T,T)",0.0089(T),0.429,5.060447,5.76,5.76,0.655000,2.736000,3.310000,0.999000,1.000000,1.000000,17.4514
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Phe1013Ile/c.3037T>A,Ttc/Atc,MODERATE,COSM4142487(1),,,rs1698624,0.55(T),"0.0,0.0(B,B)",-0.345(N),-1.0178(T),,chr1,144886197,144886197,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe1079Ile/c.3235T>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|26|1),missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe1013Ile/c.3037T>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|23|1),missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe1013Ile/c.3037T>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|23|1),intron_variant(MODIFIER|||c.5357+61441A>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+58269A>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,,,,,,,,,0.972(D),"4.91,5.01,5.01,5.01,5.01(T,T,T,T,T)",0.0006(T),0.29,-1.049274,5.56,-2.45,-3.320000,-0.810000,-0.328000,0.393000,0.051000,0.012000,2.6767
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Cys708Arg/c.2122T>C,Tgt/Cgt,MODERATE,,0.883786,0.9395,rs1628172,0.47(T),"0.0,0.001,0.0,0.001,0.001,0.0(B,B,B,B,B,B)",-0.345(N),-0.9061(T),,chr1,144912153,144912153,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys871Arg/c.2611T>C|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|11|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys708Arg/c.2122T>C|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|15|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys774Arg/c.2320T>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|18|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys708Arg/c.2122T>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|15|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys708Arg/c.2122T>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|15|1),intron_variant(MODIFIER|||c.5357+87397A>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+84225A>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8497,0.8934,0.8022,0.83,0.89,0.79,,,1.000(P),"4.78,4.88,4.88,4.88,4.88,3.88,3.89,2.81,2.81,2.8(T,T,T,T,T,T,T,T,T,T)",0.0046(T),0.076,-0.239437,5.53,3.64,-0.154000,1.355000,2.043000,0.002000,0.016000,0.023000,9.2989
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Arg681His/c.2042G>A,cGc/cAc,MODERATE,,,,rs1629011,0.12(T),"0.019,0.086,0.201,0.04,0.315,0.998(B,B,B,B,B,D)",0.975(L),-1.1232(T),,chr1,144912233,144912233,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg844His/c.2531G>A|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|11|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg681His/c.2042G>A|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|15|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg747His/c.2240G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|18|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg681His/c.2042G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|15|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg681His/c.2042G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|15|1),intron_variant(MODIFIER|||c.5357+87477C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+84305C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"4.26,4.33,4.33,4.35,4.35,3.23,3.24,2.14,2.16,2.18(T,T,T,T,T,T,T,T,T,T)",0.0524(T),0.571,1.456915,5.53,4.62,-0.726000,0.743000,2.224000,0.044000,0.998000,1.000000,12.2635
stop_gained,PDE4DIP,NONSENSE,NM_001198834.3:p.Arg622*/c.1864C>T,Cga/Tga,HIGH,,,,rs1778111,1(T),,,,PDE4DIP:0.56(9);PDE4DIP:0.56(9);,chr1,144915561,144915561,G,A,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg785*/c.2353C>T|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|10|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg622*/c.1864C>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|14|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg688*/c.2062C>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|17|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg622*/c.1864C>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|14|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg622*/c.1864C>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|14|1),intron_variant(MODIFIER|||c.5357+90805G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+87633G>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,,.,8.122839,5.2,3.29,0.650000,1.327000,2.184000,0.990000,0.754000,0.479000,4.4301
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Leu601Leu/c.1801C>T,Ctg/Ttg,LOW,,0.457268,0.3621,rs1778112,,,,,,chr1,144915624,144915624,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu764Leu/c.2290C>T|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|10|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu601Leu/c.1801C>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|14|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu667Leu/c.1999C>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu601Leu/c.1801C>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|14|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu601Leu/c.1801C>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|14|1),intron_variant(MODIFIER|||c.5357+90868G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+87696G>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4744,0.4625,0.4761,,,,,,,,,,,,,,,,,,,
stop_gained,PDE4DIP,NONSENSE,NM_001198834.3:p.Trp560*/c.1679G>A,tGg/tAg,HIGH,COSM4142493(1),,,rs1698683,0.16(T),,,,PDE4DIP:0.56(9);PDE4DIP:0.56(9);,chr1,144916676,144916676,C,T,het,"stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp723*/c.2168G>A|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|9|1),stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp560*/c.1679G>A|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|13|1),stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp626*/c.1877G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|16|1),stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp560*/c.1679G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|13|1),stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp560*/c.1679G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|13|1),intron_variant(MODIFIER|||c.5357+91920C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+88748C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.32,0.34,0.31,,,1.000(D),,,.,7.265646,5.83,5.83,0.644000,2.932000,4.323000,0.998000,1.000000,1.000000,18.0326
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Ser536Thr/c.1607G>C,aGt/aCt,MODERATE,,,,rs1747930,0.06(T),"0.779,0.912,0.438,0.912,0.895,0.991(P,D,B,D,P,D)",2.045(M),-0.3996(T),,chr1,144916748,144916748,C,G,het,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser699Thr/c.2096G>C|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|9|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser536Thr/c.1607G>C|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|13|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser602Thr/c.1805G>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|16|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser536Thr/c.1607G>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|13|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser536Thr/c.1607G>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|13|1),splice_region_variant(LOW|||c.2096G>C|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|9|1),splice_region_variant(LOW|||c.1607G>C|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|13|1),splice_region_variant(LOW|||c.1805G>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|16|1),splice_region_variant(LOW|||c.1607G>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|13|1),splice_region_variant(LOW|||c.1607G>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|13|1),intron_variant(MODIFIER|||c.5357+91992C>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+88820C>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"4.47,4.54,4.55,4.57,4.56,3.54,3.54,2.36,2.37,-0.05(T,T,T,T,T,T,T,T,T,T)",0.3673(T),0.609,4.583315,5.73,5.73,0.644000,2.886000,4.319000,0.952000,1.000000,1.000000,17.8166
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Leu520Leu/c.1558T>C,Tta/Cta,LOW,,,,rs1698682,,,,,,chr1,144917546,144917546,A,G,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu683Leu/c.2047T>C|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|8|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu520Leu/c.1558T>C|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|12|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu586Leu/c.1756T>C|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|15|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu520Leu/c.1558T>C|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|12|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu520Leu/c.1558T>C|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|12|1),intron_variant(MODIFIER|||c.5357+92790A>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+89618A>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.His482Arg/c.1445A>G,cAt/cGt,MODERATE,,,,rs1698681,0.64(T),"0.013,0.02,0.009,0.012,0.058,0.009(B,B,B,B,B,B)",-0.55(N),-1.0359(T),,chr1,144917841,144917841,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His645Arg/c.1934A>G|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|7|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His482Arg/c.1445A>G|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|11|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His548Arg/c.1643A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|14|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His482Arg/c.1445A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|11|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His482Arg/c.1445A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|11|1),intron_variant(MODIFIER|||c.5357+93085T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+89913T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM12878:CTCF,IMR90:H3K36me3,CD4:H3K36me3,NH-A:CTCF,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"4.88,4.98,4.99,4.98,4.97,3.99,4.0,2.92,2.91,-0.04(T,T,T,T,T,T,T,T,T,T)",0.0405(T),0.227,1.128116,5.78,4.59,0.460000,2.215000,2.822000,0.378000,0.825000,0.997000,10.02
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Glu410Val/c.1229A>T,gAa/gTa,MODERATE,,,,rs1061308,0(D),"0.876,0.998,0.917,0.978,0.886(P,D,D,D,P)",1.935(M),-1.0917(T),,chr1,144918957,144918957,T,A,het,"missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu573Val/c.1718A>T|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|6|1),missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu410Val/c.1229A>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|10|1),missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu476Val/c.1427A>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|13|1),missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu410Val/c.1229A>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|10|1),missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu410Val/c.1229A>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|10|1),intron_variant(MODIFIER|||c.5357+94201T>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+91029T>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"4.31,4.38,4.38,4.41,4.4,3.4,3.41,2.38,2.39,2.31(T,T,T,T,T,T,T,T,T,T)",0.0748(T),0.591,4.482075,5.64,5.64,0.528000,2.144000,6.310000,0.850000,0.991000,1.000000,13.7964
synonymous_variant,PDE4DIP,SILENT,NM_001198834.3:p.Leu369Leu/c.1105C>T,Ctg/Ttg,LOW,,,,rs71664015,,,,,,chr1,144921924,144921924,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu532Leu/c.1594C>T|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu369Leu/c.1105C>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu435Leu/c.1303C>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|12|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu369Leu/c.1105C>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu369Leu/c.1105C>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|9|1),intron_variant(MODIFIER|||c.5357+97168G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+93996G>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,HepG2:SP1,IMR90:H3K36me3,CD4:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,,,,0.13,0.05,0.17,,,,,,,,,,,,,,,,
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Arg295His/c.884G>A,cGt/cAt,MODERATE,COSM4142496(1),,,rs2455994,0.16(T),"0.005,0.022,0.006,0.0,0.002(B,B,B,B,B)",0.345(N),-0.9616(T),,chr1,144922523,144922523,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg458His/c.1373G>A|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg295His/c.884G>A|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg361His/c.1082G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|10|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg295His/c.884G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg295His/c.884G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|7|1),intron_variant(MODIFIER|||c.5357+97767C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+94595C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.34,0.34,0.34,,,1.000(D),"4.72,4.82,4.82,4.82,4.82,3.81,3.82,2.72,2.72,2.73(T,T,T,T,T,T,T,T,T,T)",0.0081(T),0.108,2.800371,6.06,2.07,0.650000,0.129000,0.055000,0.967000,0.999000,0.480000,8.9819
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Ser275Leu/c.824C>T,tCg/tTg,MODERATE,,,,rs1359300,0.01(D),"0.088,0.003,0.172,0.038,0.014(B,B,B,B,B)",0.69(N),-0.9581(T),,chr1,144922583,144922583,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser438Leu/c.1313C>T|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser275Leu/c.824C>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|7|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser341Leu/c.1022C>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|10|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser275Leu/c.824C>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|7|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser275Leu/c.824C>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|7|1),intron_variant(MODIFIER|||c.5357+97827G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+94655G>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),"4.72,4.82,4.82,4.82,4.82,3.82,3.83,2.72,2.72,2.72(T,T,T,T,T,T,T,T,T,T)",0.0085(T),0.134,2.115089,6.06,3.2,0.650000,0.896000,2.152000,0.981000,0.962000,0.997000,4.7762
synonymous_variant,PDE4DIP,SILENT,NM_001002811.2:p.Pro371Pro/c.1113G>T,ccG/ccT,LOW,,,,rs2762867,,,,,,chr1,144930596,144930596,C,A,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro371Pro/c.1113G>T|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|1|1),intron_variant(MODIFIER|||c.5357+105840C>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+102668C>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.637-6775G>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|5|1),intron_variant(MODIFIER|||c.835-6775G>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|8|1),intron_variant(MODIFIER|||c.637-6775G>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|5|1),intron_variant(MODIFIER|||c.637-6775G>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|5|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K4me2,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,CD4:H3K23ac,HUVEC:H3K4me2,IMR90:H3K27ac,HepG2:H3K4me3,HUVEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PDE4DIP,MISSENSE,NM_001002811.2:p.Lys257Glu/c.769A>G,Aaa/Gaa,MODERATE,,,,rs2147326,1(T),0.311(B),1.7(L),-1.1130(T),,chr1,144930940,144930940,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys257Glu/c.769A>G|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|1|1),intron_variant(MODIFIER|||c.5357+106184T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+103012T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.637-7119A>G|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|5|1),intron_variant(MODIFIER|||c.835-7119A>G|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|8|1),intron_variant(MODIFIER|||c.637-7119A>G|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|5|1),intron_variant(MODIFIER|||c.637-7119A>G|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|5|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,H1ESC:H3K36me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HSMM:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,CD4:H3K23ac,HUVEC:H3K4me2,IMR90:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,HUVEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,,,,,,,,,1.000(D),"2.72,2.72(T,T)",0.0146(T),0.327,0.892250,5.53,5.53,0.482000,2.100000,3.061000,0.008000,0.850000,1.000000,13.6035
missense_variant,PDE4DIP,MISSENSE,NM_001002811.2:p.Ala127Thr/c.379G>A,Gca/Aca,MODERATE,,,,rs2762745,0.02(D),0.988(D),1.87(L),-1.1516(T),,chr1,144931330,144931330,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala127Thr/c.379G>A|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|1|1),intron_variant(MODIFIER|||c.5357+106574C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+103402C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.637-7509G>A|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|5|1),intron_variant(MODIFIER|||c.835-7509G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|8|1),intron_variant(MODIFIER|||c.637-7509G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|5|1),intron_variant(MODIFIER|||c.637-7509G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|5|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,H1ESC:H3K36me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,HepG2:H3K9ac,HUVEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,,,,,,,,,1.000(D),"2.55,2.56(T,T)",0.0636(T),0.303,4.031493,5.3,5.3,0.462000,2.467000,6.056000,0.833000,0.997000,1.000000,16.4368
missense_variant,PDE4DIP,MISSENSE,NM_001002811.2:p.Ala106Val/c.317C>T,gCg/gTg,MODERATE,,,,rs2798893,0.32(T),0.01(B),0.14(N),-0.9382(T),,chr1,144931392,144931392,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala106Val/c.317C>T|1132|PDE4DIP|protein_coding|CODING|NM_001002811.2|1|1),intron_variant(MODIFIER|||c.5357+106636G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+103464G>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.637-7571C>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|5|1),intron_variant(MODIFIER|||c.835-7571C>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|8|1),intron_variant(MODIFIER|||c.637-7571C>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|5|1),intron_variant(MODIFIER|||c.637-7571C>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|5|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,H1ESC:H3K36me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,HepG2:H3K9ac,HUVEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,,,,,,,,,0.994(N),"2.67,2.67(T,T)",0.0077(T),0.039,0.239266,5.3,4.35,0.462000,1.154000,1.217000,0.122000,0.867000,0.002000,12.5939
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Ala167Thr/c.499G>A,Gcc/Acc,MODERATE,,,,rs139438772,0.22(T),"0.042,0.039,0.015(B,B,B)",0.535(N),-1.0335(T),,chr1,144952220,144952220,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala167Thr/c.499G>A|173|PDE4DIP|protein_coding|CODING|NM_001002810.3|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala135Thr/c.403G>A|141|PDE4DIP|protein_coding|CODING|NM_001195260.1|5|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala170Thr/c.508G>A|176|PDE4DIP|protein_coding|CODING|NM_001195261.1|5|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala304Thr/c.910G>A|310|PDE4DIP|protein_coding|CODING|NM_022359.5|7|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala167Thr/c.499G>A|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala233Thr/c.697G>A|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|7|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala167Thr/c.499G>A|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala167Thr/c.499G>A|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|4|1),intron_variant(MODIFIER|||c.5357+127464C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+124292C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(D),"4.59,4.65,4.66,4.69,4.68,3.68,3.69,2.0,2.0,2.99(T,T,T,T,T,T,T,T,T,T)",0.0133(T),0.238,2.878951,4.23,3.3,0.555000,2.339000,0.346000,0.806000,0.999000,0.401000,5.7668
missense_variant,PDE4DIP,MISSENSE,NM_001198834.3:p.Arg25Leu/c.74G>T,cGc/cTc,MODERATE,,,,rs1664022,0(D),"0.998,0.999,0.999,1.0,0.998,1.0,0.999(D,D,D,D,D,D,D)",2.945(M),-0.6251(T),,chr1,144994658,144994658,C,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg28Leu/c.83G>T|176|PDE4DIP|protein_coding|CODING|NM_001195261.1|2|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg91Leu/c.272G>T|2240|PDE4DIP|protein_coding|CODING|NM_001198832.2|4|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg162Leu/c.485G>T|310|PDE4DIP|protein_coding|CODING|NM_022359.5|4|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg25Leu/c.74G>T|173|PDE4DIP|protein_coding|CODING|NM_001002810.3|1|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg25Leu/c.74G>T|969|PDE4DIP|protein_coding|CODING|NM_001002812.2|1|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg25Leu/c.74G>T|2362|PDE4DIP|protein_coding|CODING|NM_001198834.3|1|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg25Leu/c.74G>T|2346|PDE4DIP|protein_coding|CODING|NM_014644.5|1|1),5_prime_UTR_variant(MODIFIER||23|c.-23G>T|141|PDE4DIP|protein_coding|CODING|NM_001195260.1|2|1),intron_variant(MODIFIER|||c.5357+169902C>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2583+166730C>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,K562:Max,K562:H3K4me3,K562:PolII,GM06990:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,HSMM:H3K27ac,K562:CTCF,K562:TFIIIC-110,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:DNase1,K562:Gabp,K562:Cmyc,IMR90:H3K36me3,H1ESC:H3K4me1,K562:E2F6,K562:Cjun,K562:H3K9ac,NHEK:H3K27me3,K562:ELF1,NHEK:H3K36me3,K562:H3K79me2,K562:Nrsf,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,K562:Srf,K562:H2AZ,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,,,,,,,,,1.000(D),"1.47,1.47,1.47,1.47,1.47,1.47,1.47,1.47,1.47,1.47,1.47(T,T,T,T,T,T,T,T,T,T,T)",0.2087(T),0.997,5.719624,5.78,5.78,0.650000,2.731000,7.708000,0.999000,1.000000,1.000000,17.5005
stop_gained,PDE4DIP,NONSENSE,NM_022359.5:p.Trp60*/c.180G>A,tgG/tgA,HIGH,COSM423677(2),,,rs2762779,1(T),,,,PDE4DIP:0.11(9);PDE4DIP:0.11(9);,chr1,145075683,145075683,C,T,het,"stop_gained(HIGH|NONSENSE|tgG/tgA|p.Trp60*/c.180G>A|310|PDE4DIP|protein_coding|CODING|NM_022359.5|1|1),intron_variant(MODIFIER|||c.5358-237651C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-237651C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,H1ESC:H3K23me2,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4me1,HSMM:H3K9ac,HUVEC:Cmyc,HMEC:H3K27me3,HUVEC:H3K4me2,H1ESC:H3K4me1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HMEC:H3K4me1,HUVEC:H3K4me1,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,K562:DNase1,IMR90:H4K8ac",,,,,,,,,,,,1.000(A),,,.,4.418607,3.72,3.72,0.561000,2.068000,2.191000,0.220000,0.998000,1.000000,11.1867
synonymous_variant,PDE4DIP,SILENT,NM_022359.5:p.Gly3Gly/c.9C>G,ggC/ggG,LOW,COSM3723000(3),,,rs1663853,,,,,,chr1,145075854,145075854,G,C,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly3Gly/c.9C>G|310|PDE4DIP|protein_coding|CODING|NM_022359.5|1|1),intron_variant(MODIFIER|||c.5358-237480G>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-237480G>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,H1ESC:H3K23me2,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,HUVEC:Cmyc,HMEC:H3K27me3,HUVEC:H3K4me2,H1ESC:H3K4me1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HMEC:H3K4me1,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,IMR90:H4K8ac,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
stop_lost,SEC22B,MISSENSE,NM_004892.5:p.Ter39Glnext*?/c.115T>C,Taa/Caa,HIGH,,,,rs2794062,,,,,,chr1,145103947,145103947,T,C,het,"stop_lost(HIGH|MISSENSE|Taa/Caa|p.Ter39Glnext*?/c.115T>C|215|SEC22B|protein_coding|CODING|NM_004892.5|2|1),intron_variant(MODIFIER|||c.5358-209387T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-209387T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SEC22B,MISSENSE,NM_004892.5:p.Asp71Tyr/c.211G>T,Gat/Tat,MODERATE,,,,rs2596331,,,,,,chr1,145109549,145109549,G,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp71Tyr/c.211G>T|215|SEC22B|protein_coding|CODING|NM_004892.5|3|1),intron_variant(MODIFIER|||c.5358-203785G>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-203785G>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.31,0.32,0.31,,,,,,,,,,,,,,,,
missense_variant,SEC22B,MISSENSE,NM_004892.5:p.Thr82Lys/c.245C>A,aCg/aAg,MODERATE,,,,rs2794053,,,,,,chr1,145109583,145109583,C,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr82Lys/c.245C>A|215|SEC22B|protein_coding|CODING|NM_004892.5|3|1),intron_variant(MODIFIER|||c.5358-203751C>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-203751C>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SEC22B,MISSENSE,NM_004892.5:p.Arg108Gln/c.323G>A,cGa/cAa,MODERATE,,,,rs2655551,,,,,,chr1,145109661,145109661,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg108Gln/c.323G>A|215|SEC22B|protein_coding|CODING|NM_004892.5|3|1),intron_variant(MODIFIER|||c.5358-203673G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-203673G>A|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.38,0.40,0.37,,,,,,,,,,,,,,,,
missense_variant,SEC22B,MISSENSE,NM_004892.5:p.Cys130Arg/c.388T>C,Tgt/Cgt,MODERATE,,,,rs2590131,,,,,,chr1,145112414,145112414,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys130Arg/c.388T>C|215|SEC22B|protein_coding|CODING|NM_004892.5|4|1),intron_variant(MODIFIER|||c.5358-200920T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-200920T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac,GM06990:H3K36me3",,,,,,,0.37,0.35,0.38,,,,,,,,,,,,,,,,
stop_gained,SEC22B,NONSENSE,NM_004892.5:p.Arg132*/c.394C>T,Cga/Tga,HIGH,,,,rs2794041,,,,,SEC22B:1.00(1);SEC22B:1.00(1);,chr1,145112420,145112420,C,T,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg132*/c.394C>T|215|SEC22B|protein_coding|CODING|NM_004892.5|4|1),intron_variant(MODIFIER|||c.5358-200914C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-200914C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac,GM06990:H3K36me3",,,,,,,0.40,0.39,0.40,,,,,,,,,,,,,,,,
synonymous_variant,SEC22B,SILENT,NM_004892.5:p.Asn134Asn/c.402C>T,aaC/aaT,LOW,,,,rs2794040,,,,,,chr1,145112428,145112428,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn134Asn/c.402C>T|215|SEC22B|protein_coding|CODING|NM_004892.5|4|1),intron_variant(MODIFIER|||c.5358-200906C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-200906C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SEC22B,SILENT,NM_004892.5:p.Ile153Ile/c.459C>T,atC/atT,LOW,,,,rs2794039,,,,,,chr1,145112485,145112485,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile153Ile/c.459C>T|215|SEC22B|protein_coding|CODING|NM_004892.5|4|1),intron_variant(MODIFIER|||c.5358-200849C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-200849C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac,GM06990:H3K36me3",,,,,,,0.42,0.40,0.43,,,,,,,,,,,,,,,,
missense_variant,SEC22B,MISSENSE,NM_004892.5:p.His190Arg/c.569A>G,cAt/cGt,MODERATE,,,,rs2655557,,,,,,chr1,145115810,145115810,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His190Arg/c.569A>G|215|SEC22B|protein_coding|CODING|NM_004892.5|5|1),intron_variant(MODIFIER|||c.5358-197524A>G|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-197524A>G|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,IMR90:H2BK120ac,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HSMM:H3K36me3,IMR90:DNase1,IMR90:H2BK12ac,HSMM:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,NHEK:H3K27me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac,GM06990:H3K36me3,IMR90:H4K8ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SEC22B,SILENT,NM_004892.5:p.Tyr193Tyr/c.579T>C,taT/taC,LOW,,,,rs2655558,,,,,,chr1,145115820,145115820,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr193Tyr/c.579T>C|215|SEC22B|protein_coding|CODING|NM_004892.5|5|1),intron_variant(MODIFIER|||c.5358-197514T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-197514T>C|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,IMR90:H2BK120ac,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HSMM:H3K36me3,IMR90:DNase1,IMR90:H2BK12ac,HSMM:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,NHEK:H3K27me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac,GM06990:H3K36me3,IMR90:H4K8ac",,,,,,,0.46,0.45,0.46,,,,,,,,,,,,,,,,
missense_variant,NOTCH2NL,MISSENSE,NM_203458.4:p.Thr158Ile/c.473C>T,aCc/aTc,MODERATE,COSM4142512(2),,,rs8002,0.06(T),"0.996,0.962(D,D)",1.43(L),-0.0666(T),,chr1,145281543,145281543,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr158Ile/c.473C>T|236|NOTCH2NL|protein_coding|CODING|NM_203458.4|4|1),intron_variant(MODIFIER|||c.5358-31791C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-31791C>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","CD4:H3K9me1,H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H4K12ac,CD4:H2BK5me1,HMEC:H3K27me3,CD4:H3K36me3,CD4:H3K4me1,GM12878:H3K4me1,HepG2:H3K36me3,CD4:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,,,,,,,,,0.997(N),"-3.12,-3.12,-3.12(D,D,D)",0.6991(D),0.205,3.320895,2.87,1.87,0.400000,0.473000,0.859000,0.981000,1.000000,0.168000,8.5858
missense_variant,NOTCH2NL,MISSENSE,NM_203458.4:p.Thr196Ser/c.586A>T,Acc/Tcc,MODERATE,COSM1179144(3),,,rs4649852,0.09(T),"0.987,0.955(D,D)",1.85(L),0.0073(D),,chr1,145281656,145281656,A,T,het,"missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr196Ser/c.586A>T|236|NOTCH2NL|protein_coding|CODING|NM_203458.4|4|1),intron_variant(MODIFIER|||c.5358-31678A>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|53|1),intron_variant(MODIFIER|||c.2584-31678A>T|1110|NBPF9|protein_coding|CODING|NM_001277444.1.2|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","CD4:H3K9me1,H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H4K12ac,CD4:H2BK5me1,HMEC:H3K27me3,CD4:H3K36me3,CD4:H3K4me1,GM12878:H3K4me1,HepG2:H3K36me3,CD4:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:PU1,K562:SP1,NHEK:DNase1",,,,,,,,,,,,0.985(N),"-0.19,-2.88,-0.19(T,D,T)",0.7387(D),0.3,3.571953,2.87,2.87,0.329000,1.309000,9.063000,0.784000,0.999000,1.000000,9.1743
synonymous_variant,ITGA10,SILENT,NM_003637.3:p.Phe334Phe/c.1002T>C,ttT/ttC,LOW,,0.988019,1,rs1328584,,,,,,chr1,145532549,145532549,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe334Phe/c.1002T>C|1167|ITGA10|protein_coding|CODING|NM_003637.3|9|1),intron_variant(MODIFIER|||c.10988+167875T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|99|1),intron_variant(MODIFIER|||c.8614+167090T>C|3626|NBPF10|protein_coding|CODING|NM_001039703.5|68|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ITGA10,SILENT,NM_003637.3:p.Leu424Leu/c.1270T>C,Ttg/Ctg,LOW,,0.19988,0.1617,rs11590105,,,,,,chr1,145533175,145533175,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu424Leu/c.1270T>C|1167|ITGA10|protein_coding|CODING|NM_003637.3|11|1),intron_variant(MODIFIER|||c.10988+168501T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|99|1),intron_variant(MODIFIER|||c.8614+167716T>C|3626|NBPF10|protein_coding|CODING|NM_001039703.5|68|1)","HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1616,0.3458,0.3559,0.27,0.11,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD35,SILENT,NM_144698.4:p.Gln268Gln/c.804G>A,caG/caA,LOW,,0.0365415,0,rs11578772,,,,,,chr1,145561116,145561116,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln178Gln/c.534G>A|911|ANKRD35|protein_coding|CODING|NM_001280799.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln268Gln/c.804G>A|1001|ANKRD35|protein_coding|CODING|NM_144698.4|10|1),intron_variant(MODIFIER|||c.10988+196442G>A|4963|NBPF20|protein_coding|CODING|NM_001278267.1|99|1),intron_variant(MODIFIER|||c.8614+195657G>A|3626|NBPF10|protein_coding|CODING|NM_001039703.5|68|1)","GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0184,0.0692,0.1133,0.09,0.03,0.12,,,,,,,,,,,,,,,,
missense_variant,ANKRD35,MISSENSE,NM_144698.4:p.Pro428Ser/c.1282C>T,Ccc/Tcc,MODERATE,,0.564696,0.7252,rs6670984,0.75(T),0.002(B),1.25(L),-1.0895(T),,chr1,145561594,145561594,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro338Ser/c.1012C>T|911|ANKRD35|protein_coding|CODING|NM_001280799.1|8|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro428Ser/c.1282C>T|1001|ANKRD35|protein_coding|CODING|NM_144698.4|10|1),intron_variant(MODIFIER|||c.10988+196920C>T|4963|NBPF20|protein_coding|CODING|NM_001278267.1|99|1),intron_variant(MODIFIER|||c.8614+196135C>T|3626|NBPF10|protein_coding|CODING|NM_001039703.5|68|1)","GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6125,0.5043,0.3797,0.42,0.53,0.37,,0.800111(N),1.000(P),-0.13(T),0.0522(T),0.024,-0.410284,5.21,-3.07,-0.140000,-0.485000,0.280000,0.028000,0.000000,0.000000,6.7985
missense_variant,ANKRD35,MISSENSE,NM_144698.4:p.Glu661Gln/c.1981G>C,Gag/Cag,MODERATE,,0.339058,0.2738,rs11579366,0.38(T),0.598(P),2.14(M),-0.9210(T),,chr1,145562293,145562293,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu571Gln/c.1711G>C|911|ANKRD35|protein_coding|CODING|NM_001280799.1|8|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu661Gln/c.1981G>C|1001|ANKRD35|protein_coding|CODING|NM_144698.4|10|1),intron_variant(MODIFIER|||c.10988+197619G>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|99|1),intron_variant(MODIFIER|||c.8614+196834G>C|3626|NBPF10|protein_coding|CODING|NM_001039703.5|68|1)","GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.363,0.4755,0.6143,0.48,0.20,0.63,,0.004830(N),0.000(P),0.4(T),0.1381(T),0.039,2.869314,4.82,4.82,0.563000,2.504000,5.285000,0.977000,0.943000,1.000000,13.2657
synonymous_variant,ANKRD35,SILENT,NM_144698.4:p.Leu857Leu/c.2569T>C,Ttg/Ctg,LOW,COSM3720801(2),0.588858,0.7252,rs10910824,,,,,,chr1,145562881,145562881,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu767Leu/c.2299T>C|911|ANKRD35|protein_coding|CODING|NM_001280799.1|8|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu857Leu/c.2569T>C|1001|ANKRD35|protein_coding|CODING|NM_144698.4|10|1),intron_variant(MODIFIER|||c.10988+198207T>C|4963|NBPF20|protein_coding|CODING|NM_001278267.1|99|1),intron_variant(MODIFIER|||c.8614+197422T>C|3626|NBPF10|protein_coding|CODING|NM_001039703.5|68|1)","CD4:H2AZ,GM06990:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:DNase1,IMR90:H3K27ac,NHEK:H3K27me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,IMR90:H3K4me3",,,,0.6155,0.5389,0.4384,0.46,0.54,0.41,,,,,,,,,,,,,,,,
synonymous_variant,FMO5,SILENT,NM_001461.3:p.Pro337Pro/c.1011G>A,ccG/ccA,LOW,,0.895767,0.9871,rs386619855,,,,,,chr1,146672906,146672906,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro337Pro/c.1011G>A|464|FMO5|protein_coding|CODING|NM_001144829.2|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro337Pro/c.1011G>A|533|FMO5|protein_coding|CODING|NM_001461.3|7|1),intron_variant(MODIFIER|||c.830+7508G>A|285|FMO5|protein_coding|CODING|NM_001144830.2|5|1)","GM12878:H3K36me3,HepG2:H3K36me3",,,,0.8476,0.9467,0.9085,0.89,0.85,0.92,,,,,,,,,,,,,,,,
synonymous_variant,CHD1L,SILENT,NM_004284.4:p.Ala13Ala/c.39G>C,gcG/gcC,LOW,COSM4142543(2),0.535343,0.5417,rs1890042,,,,,,chr1,146714392,146714392,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala13Ala/c.39G>C|693|CHD1L|protein_coding|CODING|NM_001256338.1|1|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala13Ala/c.39G>C|897|CHD1L|protein_coding|CODING|NM_004284.4|1|1),5_prime_UTR_variant(MODIFIER||9952|c.-155G>C|797|CHD1L|protein_coding|CODING|NM_001256336.1|1|1),5_prime_UTR_variant(MODIFIER||23303|c.-275G>C|616|CHD1L|protein_coding|CODING|NM_001256337.1|1|1),5_prime_UTR_variant(MODIFIER||12232|c.-273G>C|784|CHD1L|protein_coding|CODING|NM_024568.2|1|1),non_coding_exon_variant(MODIFIER|||n.102G>C||CHD1L||CODING|NR_046070.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,GM12878:Egr1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Rad21,K562:Yy1,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,GM12878:Rad21,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,HepG2:Rad21,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,K562:E2F4,GM06990:CTCF",,,,0.5399,0.6037,0.5974,,,,,,,,,,,,,,,,,,,
synonymous_variant,CHD1L,SILENT,NM_004284.4:p.Ile541Ile/c.1623A>C,atA/atC,LOW,,0.967851,0.9881,rs7547279,,,,,,chr1,146751782,146751782,A,C,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile441Ile/c.1323A>C|797|CHD1L|protein_coding|CODING|NM_001256336.1|14|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile260Ile/c.780A>C|616|CHD1L|protein_coding|CODING|NM_001256337.1|10|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile337Ile/c.1011A>C|693|CHD1L|protein_coding|CODING|NM_001256338.1|9|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile541Ile/c.1623A>C|897|CHD1L|protein_coding|CODING|NM_004284.4|15|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile428Ile/c.1284A>C|784|CHD1L|protein_coding|CODING|NM_024568.2|15|1),non_coding_exon_variant(MODIFIER|||n.1501A>C||CHD1L||CODING|NR_046070.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9744,0.9885,0.9592,0.95,0.94,0.96,,,,,,,,,,,,,,,,
missense_variant,CHD1L,MISSENSE,NM_004284.4:p.Ala885Ser/c.2653G>T,Gca/Tca,MODERATE,,0.968051,0.9881,rs4950394,1(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-1.0541(T),,chr1,146767149,146767149,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala785Ser/c.2353G>T|797|CHD1L|protein_coding|CODING|NM_001256336.1|22|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala604Ser/c.1810G>T|616|CHD1L|protein_coding|CODING|NM_001256337.1|18|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala681Ser/c.2041G>T|693|CHD1L|protein_coding|CODING|NM_001256338.1|17|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala885Ser/c.2653G>T|897|CHD1L|protein_coding|CODING|NM_004284.4|23|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala772Ser/c.2314G>T|784|CHD1L|protein_coding|CODING|NM_024568.2|23|1),non_coding_exon_variant(MODIFIER|||n.2531G>T||CHD1L||CODING|NR_046070.1|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9744,0.9885,0.9592,0.95,0.94,0.96,,0.690989(N),1.000(P),"-2.38,-1.24,-2.29,-1.38(D,T,D,T)",0.0923(T),0.142,-0.780798,5.27,2.95,-0.256000,0.124000,0.498000,0.028000,0.057000,0.151000,4.1933
missense_variant,BCL9,MISSENSE,NM_004326.3:p.Pro671Ser/c.2011C>T,Cct/Tct,MODERATE,,0.181909,0.0982,rs3820129,0.04(D),"0.037,0.037(B,B)",0.975(L),-1.0310(T),,chr1,147091972,147091972,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro671Ser/c.2011C>T|1426|BCL9|protein_coding|CODING|NM_004326.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.229,0.2061,0.4125,0.30,0.09,0.40,,0.000000(N),0.000(P),0.53(T),0.0648(T),0.066,3.077060,4.83,3.92,0.591000,1.263000,5.929000,0.940000,0.962000,1.000000,13.1561
synonymous_variant,ACP6,SILENT,NM_016361.4:p.His413His/c.1239C>T,caC/caT,LOW,,0.479233,0.4226,rs1344,,,,,,chr1,147119273,147119273,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His413His/c.1239C>T|428|ACP6|protein_coding|CODING|NM_016361.4|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4029,0.6254,0.5765,0.53,0.46,0.57,,,,,,,,,,,,,,,,
missense_variant,ACP6,MISSENSE,NM_016361.4:p.Val316Met/c.946G>A,Gtg/Atg,MODERATE,,0.984425,1,rs6593795,0.19(T),0.089(B),1.21(L),-1.0285(T),,chr1,147121977,147121977,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val316Met/c.946G>A|428|ACP6|protein_coding|CODING|NM_016361.4|8|1),"H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.96,1.00,,0.641134(N),1.000(P),1.53(T),0.0187(T),0.031,1.464356,5.4,0.112,-0.723000,-0.171000,-1.021000,0.005000,0.003000,0.000000,6.6814
synonymous_variant,ACP6,SILENT,NM_016361.4:p.Arg275Arg/c.823A>C,Agg/Cgg,LOW,,,,rs2153463,,,,,,chr1,147124310,147124310,T,G,hom,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg275Arg/c.823A>C|428|ACP6|protein_coding|CODING|NM_016361.4|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.73,0.76,0.71,,,,,,,,,,,,,,,,
synonymous_variant,GPR89B,SILENT,NM_016334.3:p.Cys80Cys/c.240T>C,tgT/tgC,LOW,,0.0467252,0.0456,rs142935665,,,,,,chr1,147415585,147415585,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys80Cys/c.240T>C|455|GPR89B|protein_coding|CODING|NM_016334.3|4|1),"HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0331,0.0328,0.05,0.08,0.04,,,,,,,,,,,,,,,,
missense_variant,HIST2H2BE,MISSENSE,NM_003528.2:p.Pro4Gln/c.11C>A,cCg/cAg,MODERATE,,0.000599042,0,rs141403958,0.05(D),0.016(B),2.53(M),-1.0619(T),,chr1,149858180,149858180,G,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro4Gln/c.11C>A|126|HIST2H2BE|protein_coding|CODING|NM_003528.2|1|1),upstream_gene_variant(MODIFIER||345||129|HIST2H2AC|protein_coding|CODING|NM_003517.2||1),downstream_gene_variant(MODIFIER||839||130|HIST2H2AB|protein_coding|CODING|NM_175065.2||1)","GM12878:Cmyc,H1ESC:PolII,K562:TAF7,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,K562:FAIRE,IMR90:H3K4me2,H1ESC:SP1,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,HepG2:PolII,GM12878:POU2F2,HMEC:H3K4me2,GM12878:ELF1,HepG2:SP1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,NH-A:H3K27ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,K562:NELFe,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:TAF1,CD4:p300,H1ESC:TAF7,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:BCLAF1,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0,0.0043,0,0.00,0.00,0.00,,0.000000(D),0.788(N),2.18(T),0.0356(T),0.504,3.004215,5.99,5.07,0.650000,1.525000,6.451000,0.957000,0.957000,1.000000,13.1685
missense_variant,MTMR11,MISSENSE,NM_001145862.1:p.Met159Val/c.475A>G,Atg/Gtg,MODERATE,COSM3927611(4),0.228634,0.2837,rs11205303,0.52(T),"0.001,0.023,0.074,0.034(B,B,B,B)",1.79(L),-0.9512(T),,chr1,149906413,149906413,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met159Val/c.475A>G|709|MTMR11|protein_coding|CODING|NM_001145862.1|6|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met87Val/c.259A>G|640|MTMR11|protein_coding|CODING|NM_181873.3|5|1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",Height,,,0.2914,0.2637,0.3688,0.30,0.09,0.40,,0.019403(N),0.927(P),"-1.56,-1.56,-1.56,-1.56(D,D,D,D)",0.2269(T),0.066,1.498377,6.17,2.65,-0.256000,0.214000,0.553000,0.957000,1.000000,1.000000,7.499
synonymous_variant,MTMR11,SILENT,NM_001145862.1:p.Asn27Asn/c.81T>C,aaT/aaC,LOW,COSM3750344(2),0.416733,0.3571,rs1868992,,,,,,chr1,149908108,149908108,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn27Asn/c.81T>C|709|MTMR11|protein_coding|CODING|NM_001145862.1|2|1),5_prime_UTR_variant(MODIFIER||51|c.-51T>C|640|MTMR11|protein_coding|CODING|NM_181873.3|1|1)","NHEK:H3K9ac,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,IMR90:H3K4me2,NH-A:H3K4me3,NHEK:H3K4me2,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2812,0.3991,0.2594,0.38,0.61,0.26,,,,,,,,,,,,,,,,
synonymous_variant,OTUD7B,SILENT,NM_020205.3:p.Gln158Gln/c.474G>A,caG/caA,LOW,,0.0071885,0,rs71622670,,,,,,chr1,149939247,149939247,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln158Gln/c.474G>A|843|OTUD7B|protein_coding|CODING|NM_020205.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0061,0.0101,0.0229,0.02,0.00,0.03,,,,,,,,,,,,,,,,
missense_variant,ANP32E,MISSENSE,NM_001280560.1:p.Ala111Glu/c.332C>A,gCg/gAg,MODERATE,COSM1179736(2),0.602037,0.5456,rs7522034,0.55(T),0.0(B),,-1.0835(T),,chr1,150199123,150199123,G,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala111Glu/c.332C>A|165|ANP32E|protein_coding|CODING|NM_001280560.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly125Gly/c.375C>A|227|ANP32E|protein_coding|CODING|NM_001136478.3|4|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly118Gly/c.354C>A|220|ANP32E|protein_coding|CODING|NM_001136479.2|5|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly166Gly/c.498C>A|267|ANP32E|protein_coding|CODING|NM_001280559.1|5|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly166Gly/c.498C>A|268|ANP32E|protein_coding|CODING|NM_030920.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.498,0.4683,0.4304,0.55,0.82,0.42,,,0.000(P),8.07(T),0.0001(T),.,-1.416738,4.71,-3.24,-0.363000,-0.475000,0.015000,0.046000,0.988000,0.993000,1.3997
missense_variant,MRPS21,MISSENSE,NM_018997.3:p.Arg51Gln/c.152G>A,cGg/cAg,MODERATE,COSM4142586(1),0.0878594,0.001,rs4845,0.79(T),0.012(B),,-1.0201(T),,chr1,150280550,150280550,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg51Gln/c.152G>A|87|MRPS21|protein_coding|CODING|NM_018997.3|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg51Gln/c.152G>A|87|MRPS21|protein_coding|CODING|NM_031901.5|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.0519,0.0706,0.12,0.19,0.09,,,0.998(P),"1.46,1.46(T,T)",0.0148(T),0.197,1.681805,4.94,4.94,0.655000,2.572000,1.483000,0.988000,0.989000,0.084000,9.1038
synonymous_variant,RPRD2,SILENT,NM_015203.4:p.Ser33Ser/c.99G>T,tcG/tcT,LOW,,0.0407348,0.001,rs72696841,,,,,,chr1,150337289,150337289,G,T,het,"synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser33Ser/c.99G>T|934|RPRD2|protein_coding|CODING|NM_001297673.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser33Ser/c.99G>T|1435|RPRD2|protein_coding|CODING|NM_001297674.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser33Ser/c.99G>T|1461|RPRD2|protein_coding|CODING|NM_015203.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:CTCFL,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,GM12878:NFKB,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:TAF1,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,IMR90:H4K8ac",,,,0.0256,0.0548,0.1382,0.09,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,RPRD2,MISSENSE,NM_015203.4:p.Met351Val/c.1051A>G,Atg/Gtg,MODERATE,,0.0409345,0.002,rs41273537,0.56(T),"0.0,0.0,0.0(B,B,B)",0.41(N),-1.0227(T),,chr1,150429944,150429944,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met325Val/c.973A>G|934|RPRD2|protein_coding|CODING|NM_001297673.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met325Val/c.973A>G|1435|RPRD2|protein_coding|CODING|NM_001297674.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met351Val/c.1051A>G|1461|RPRD2|protein_coding|CODING|NM_015203.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0256,0.0562,0.1372,0.09,0.02,0.12,,0.118119(N),1.000(P),"1.07,1.02,1.11(T,T,T)",0.0200(T),0.035,-0.544573,5.2,-10.2,-0.313000,-2.115000,-0.222000,0.980000,0.000000,0.001000,17.8522
synonymous_variant,ECM1,SILENT,NM_001202858.1:p.Thr287Thr/c.861G>A,acG/acA,LOW,,0.0994409,0.001,rs11801190,,,,,,chr1,150484004,150484004,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr287Thr/c.861G>A|567|ECM1|protein_coding|CODING|NM_001202858.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr260Thr/c.780G>A|540|ECM1|protein_coding|CODING|NM_004425.3|7|1),intron_variant(MODIFIER|||c.708+330G>A|415|ECM1|protein_coding|CODING|NM_022664.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0548,0.0716,0.13,0.22,0.09,,,,,,,,,,,,,,,,
missense_variant,ADAMTSL4,MISSENSE,NM_001288608.1:p.Ala193Pro/c.577G>C,Gct/Cct,MODERATE,COSM4142596(1),0.528355,0.5675,rs41317515,0.3(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0579(T),,chr1,150526044,150526044,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala193Pro/c.577G>C|1035|ADAMTSL4|protein_coding|CODING|NM_001288607.1|6|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala193Pro/c.577G>C|1097|ADAMTSL4|protein_coding|CODING|NM_001288608.1|6|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala193Pro/c.577G>C|1074|ADAMTSL4|protein_coding|CODING|NM_019032.5|6|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala193Pro/c.577G>C|877|ADAMTSL4|protein_coding|CODING|NM_025008.4|6|1),downstream_gene_variant(MODIFIER||1554|||MIR4257||NON_CODING|NR_036211.1||1)","H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4427,0.4337,0.5338,0.55,0.59,0.53,,,1.000(P),"0.05,-0.03,0.23,-0.03(T,T,T,T)",0.0306(T),0.016,-0.864147,3.65,-4.57,-1.087000,-1.085000,-1.494000,0.045000,0.000000,0.000000,3.1698
synonymous_variant,ADAMTSL4,SILENT,NM_001288608.1:p.Gly313Gly/c.939C>T,ggC/ggT,LOW,COSM4142599(2),0.347244,0.3056,rs6681639,,,,,,chr1,150526406,150526406,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly313Gly/c.939C>T|1035|ADAMTSL4|protein_coding|CODING|NM_001288607.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly313Gly/c.939C>T|1097|ADAMTSL4|protein_coding|CODING|NM_001288608.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly313Gly/c.939C>T|1074|ADAMTSL4|protein_coding|CODING|NM_019032.5|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly313Gly/c.939C>T|877|ADAMTSL4|protein_coding|CODING|NM_025008.4|6|1),downstream_gene_variant(MODIFIER||1916|||MIR4257||NON_CODING|NR_036211.1||1)","H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1922,0.2666,0.2853,0.36,0.52,0.27,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL4,SILENT,NM_001288608.1:p.Asn837Asn/c.2511T>C,aaT/aaC,LOW,COSM4142601(1),0.814497,0.8373,rs10888382,,,,,,chr1,150531008,150531008,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn775Asn/c.2325T>C|1035|ADAMTSL4|protein_coding|CODING|NM_001288607.1|16|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn837Asn/c.2511T>C|1097|ADAMTSL4|protein_coding|CODING|NM_001288608.1|16|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn814Asn/c.2442T>C|1074|ADAMTSL4|protein_coding|CODING|NM_019032.5|15|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn814Asn/c.2442T>C|877|ADAMTSL4|protein_coding|CODING|NM_025008.4|15|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K4me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8323,0.9049,0.9314,0.87,0.70,0.95,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL4,SILENT,NM_001288608.1:p.Pro851Pro/c.2553G>A,ccG/ccA,LOW,COSM3750346(1),0.878395,0.9831,rs10749657,,,,,,chr1,150531050,150531050,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro789Pro/c.2367G>A|1035|ADAMTSL4|protein_coding|CODING|NM_001288607.1|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro851Pro/c.2553G>A|1097|ADAMTSL4|protein_coding|CODING|NM_001288608.1|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro828Pro/c.2484G>A|1074|ADAMTSL4|protein_coding|CODING|NM_019032.5|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro828Pro/c.2484G>A|877|ADAMTSL4|protein_coding|CODING|NM_025008.4|15|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K4me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9018,0.8444,0.839,0.84,0.84,0.85,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL4,SILENT,NM_025008.4:p.His868His/c.2604C>T,caC/caT,LOW,COSM4142603(1),0.921526,1,rs10749658,,,,,,chr1,150531170,150531170,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His868His/c.2604C>T|877|ADAMTSL4|protein_coding|CODING|NM_025008.4|15|1),intron_variant(MODIFIER|||c.2442+45C>T|1035|ADAMTSL4|protein_coding|CODING|NM_001288607.1|16|1),intron_variant(MODIFIER|||c.2628+45C>T|1097|ADAMTSL4|protein_coding|CODING|NM_001288608.1|16|1),intron_variant(MODIFIER|||c.2559+45C>T|1074|ADAMTSL4|protein_coding|CODING|NM_019032.5|15|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K4me3,K562:H3K36me3,HUVEC:H3K9ac,CD4:H4K20me1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac",,,,1,0.9841,0.997,0.92,0.75,1.00,,,,,,,,,,,,,,,,
missense_variant,CTSS,MISSENSE,NM_004079.4:p.Val7Ala/c.20T>C,gTg/gCg,MODERATE,,0.0217652,0,rs41271951,0.37(T),"0.0,0.0(B,B)",-0.345(N),-0.9790(T),,chr1,150737220,150737220,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val7Ala/c.20T>C|281|CTSS|protein_coding|CODING|NM_001199739.1|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val7Ala/c.20T>C|331|CTSS|protein_coding|CODING|NM_004079.4|2|1)","NHEK:H3K27ac,HeLa-S3:DNase1,GM12878:H3K4me3,HeLa-S3:RPC155,HUVEC:H3K9ac,HeLa-S3:H3K4me2,IMR90:DNase1,CD4:H3K4me3,HUVEC:Cjun,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HUVEC:H3K4me2,HUVEC:H3K4me1,CD4:H3K4me2,HUVEC:H3K27ac,GM12878:H3K9ac,GM12878:H3K4me2,NHEK:DNase1",,,,0.0082,0.0331,0.0765,0.06,0.01,0.08,,0.007586(N),1.000(N),"-1.6,-1.13(D,T)",0.1090(T),0.036,1.580863,4.87,-1.64,-0.379000,-0.377000,-0.018000,0.105000,0.000000,0.000000,6.3731
synonymous_variant,CTSK,SILENT,NM_000396.3:p.Ala277Ala/c.831A>G,gcA/gcG,LOW,,0.963259,0.9931,rs10788796,,,,,,chr1,150771703,150771703,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala277Ala/c.831A>G|329|CTSK|protein_coding|CODING|NM_000396.3|7|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.987,0.998,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ARNT,SILENT,NM_001668.3:p.Ser680Ser/c.2040C>A,tcC/tcA,LOW,,,,,,,,,,chr1,150786626,150786626,G,T,het,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser664Ser/c.1992C>A|773|ARNT|protein_coding|CODING|NM_001197325.1|19|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser666Ser/c.1998C>A|775|ARNT|protein_coding|CODING|NM_001286035.1|21|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser678Ser/c.2034C>A|787|ARNT|protein_coding|CODING|NM_001286036.1|20|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser680Ser/c.2040C>A|789|ARNT|protein_coding|CODING|NM_001668.3|20|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser665Ser/c.1995C>A|774|ARNT|protein_coding|CODING|NM_178427.2|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CERS2,MISSENSE,NM_022075.4:p.Glu115Ala/c.344A>C,gAg/gCg,MODERATE,COSM1333906(1),0.0680911,0.0258,rs267738,0.28(T),0.756(P),2.565(M),0.8221(D),,chr1,150940625,150940625,T,G,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu115Ala/c.344A>C|380|CERS2|protein_coding|CODING|NM_022075.4|4|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu115Ala/c.344A>C|380|CERS2|protein_coding|CODING|NM_181746.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Rhegmatogenous_retinal_detachment,,,0.0501,0.0951,0.1909,0.15,0.04,0.21,,0.000015(D),0.000(P),"-3.89,-3.89,-3.89,-3.89,-3.89,-3.89(D,D,D,D,D,D)",0.8670(D),0.322,5.158232,4.9,4.9,0.533000,2.058000,7.460000,0.967000,1.000000,1.000000,14.3739
missense_variant,FAM63A,MISSENSE,NM_001163258.1:p.Thr433Lys/c.1298C>A,aCg/aAg,MODERATE,,0.943291,1,rs2925741,,,0.345(N),-1.0081(T),,chr1,150970577,150970577,G,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr243Lys/c.728C>A|327|FAM63A|protein_coding|CODING|NM_001040217.2|8|1),missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr433Lys/c.1298C>A|517|FAM63A|protein_coding|CODING|NM_001163258.1|9|1),missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr290Lys/c.869C>A|374|FAM63A|protein_coding|CODING|NM_001163259.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr243Lys/c.728C>A|327|FAM63A|protein_coding|CODING|NM_001163260.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr385Lys/c.1154C>A|469|FAM63A|protein_coding|CODING|NM_018379.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9856,0.998,0.94,0.83,1.00,,,1.000(P),,0.0182(T),.,-0.602801,4.26,3.1,-0.372000,0.691000,0.717000,0.881000,0.954000,0.018000,9.6528
missense_variant,FAM63A,MISSENSE,NM_001163258.1:p.Arg89Ser/c.267A>T,agA/agT,MODERATE,COSM3750348(1),0.0533147,0,rs41310885,0.77(T),"0.023,0.006(B,B)",0.55(N),-1.0826(T),,chr1,150974971,150974971,T,A,het,"missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg89Ser/c.267A>T|517|FAM63A|protein_coding|CODING|NM_001163258.1|3|1),missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg41Ser/c.123A>T|469|FAM63A|protein_coding|CODING|NM_018379.4|3|1),intron_variant(MODIFIER|||c.-120-184A>T|327|FAM63A|protein_coding|CODING|NM_001163260.1|1|1),intron_variant(MODIFIER|||c.-132-172A>T|327|FAM63A|protein_coding|CODING|NM_001040217.2|1|1),intron_variant(MODIFIER|||c.-68-95A>T|374|FAM63A|protein_coding|CODING|NM_001163259.1|1|1)","CD4:H2BK5ac,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0331,0.0646,0.09,0.13,0.07,,0.100509(N),1.000(P),"1.01,0.99(T,T)",0.0175(T),0.047,2.148898,5.18,-0.0985,0.533000,-0.171000,-0.099000,0.003000,0.000000,0.000000,0.829
missense_variant,FAM63A,MISSENSE,NM_001163258.1:p.Lys44Glu/c.130A>G,Aag/Gag,MODERATE,,0.758986,0.8492,rs771205,1(T),,,-1.0198(T),,chr1,150975108,150975108,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys44Glu/c.130A>G|517|FAM63A|protein_coding|CODING|NM_001163258.1|3|1),5_prime_UTR_variant(MODIFIER||15|c.-15A>G|469|FAM63A|protein_coding|CODING|NM_018379.4|3|1),intron_variant(MODIFIER|||c.-120-321A>G|327|FAM63A|protein_coding|CODING|NM_001163260.1|1|1),intron_variant(MODIFIER|||c.-132-309A>G|327|FAM63A|protein_coding|CODING|NM_001040217.2|1|1),intron_variant(MODIFIER|||c.-68-232A>G|374|FAM63A|protein_coding|CODING|NM_001163259.1|1|1)","CD4:H2BK5ac,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9141,0.9424,0.9692,0.80,0.45,0.98,,0.037600(N),1.000(P),0.81(T),0.0137(T),0.008,-0.878475,4.86,1.93,-0.726000,0.007000,0.107000,0.001000,0.000000,0.000000,3.6506
synonymous_variant,PRUNE,SILENT,NM_021222.1:p.Lys236Lys/c.708A>G,aaA/aaG,LOW,,0.275759,0.4613,rs11204762,,,,,,chr1,150999737,150999737,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys236Lys/c.708A>G|453|PRUNE|protein_coding|CODING|NM_021222.1|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2454,0.1974,0.2107,0.24,0.26,0.23,,,,,,,,,,,,,,,,
synonymous_variant,PRUNE,SILENT,NM_021222.1:p.Gly397Gly/c.1191C>A,ggC/ggA,LOW,,0.509385,0.5952,rs3738476,,,,,,chr1,151006539,151006539,C,A,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly397Gly/c.1191C>A|453|PRUNE|protein_coding|CODING|NM_021222.1|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.5187,0.503,0.85,0.82,0.87,,,,,,,,,,,,,,,,
missense_variant,BNIPL,MISSENSE,NM_138278.3:p.Ser226Asn/c.677G>A,aGc/aAc,MODERATE,COSM3750351(1),0.0583067,0,rs12068365,0.32(T),0.358(B),0.38(N),-1.0231(T),,chr1,151015868,151015868,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser144Asn/c.431G>A|275|BNIPL|protein_coding|CODING|NM_001159642.1|6|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser226Asn/c.677G>A|357|BNIPL|protein_coding|CODING|NM_138278.3|6|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0082,0.036,0.0656,0.11,0.16,0.08,,0.000028(D),0.818(P),"1.78,1.78,1.78(T,T,T)",0.0160(T),0.027,3.267359,5.3,4.36,0.462000,1.160000,3.521000,0.753000,0.999000,1.000000,7.1673
missense_variant,GABPB2,MISSENSE,NM_144618.2:p.Val62Ile/c.184G>A,Gtt/Att,MODERATE,,0.0549121,0,rs11204774,0.25(T),"0.93,0.154(D,B)",0.68(N),-1.0594(T),,chr1,151062957,151062957,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val62Ile/c.184G>A|448|GABPB2|protein_coding|CODING|NM_144618.2|3|1),NHEK:H3K36me3,,,,0.0082,0.0346,0.0656,0.11,0.15,0.08,,0.000001(D),0.000(P),"1.04,1.04,1.04(T,T,T)",0.1138(T),0.343,3.860454,5.46,5.46,0.650000,2.861000,9.368000,0.984000,0.908000,1.000000,18.0974
synonymous_variant,SEMA6C,SILENT,NM_001178061.1:p.Pro675Pro/c.2025G>C,ccG/ccC,LOW,COSM3750352(3),0.758187,0.9028,rs4971006,,,,,,chr1,151105824,151105824,C,G,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro675Pro/c.2025G>C|962|SEMA6C|protein_coding|CODING|NM_001178061.1|20|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro635Pro/c.1905G>C|922|SEMA6C|protein_coding|CODING|NM_001178062.1|19|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro643Pro/c.1929G>C|930|SEMA6C|protein_coding|CODING|NM_030913.4|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:CTCF",,,,0.8272,0.7939,0.8121,0.73,0.59,0.81,,,,,,,,,,,,,,,,
missense_variant,SEMA6C,MISSENSE,NM_001178061.1:p.Thr455Pro/c.1363A>C,Acc/Ccc,MODERATE,,0.823482,0.9048,rs4971007,0.36(T),"0.0,0.0,0.0(B,B,B)",0.975(L),-0.9673(T),,chr1,151108137,151108137,T,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr455Pro/c.1363A>C|962|SEMA6C|protein_coding|CODING|NM_001178061.1|14|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr415Pro/c.1243A>C|922|SEMA6C|protein_coding|CODING|NM_001178062.1|13|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr455Pro/c.1363A>C|930|SEMA6C|protein_coding|CODING|NM_030913.4|14|1)","H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:CTCF,H1ESC:CTCF,GM06990:CTCF",,,,0.8354,0.8084,0.8201,0.80,0.78,0.81,,0.000056(N),0.990(P),"2.84,2.84,2.84,2.84(T,T,T,T)",0.0087(T),0.098,1.980540,4.64,4.64,-0.358000,0.974000,0.899000,0.924000,1.000000,0.997000,10.2869
missense_variant,SEMA6C,MISSENSE,NM_001178061.1:p.Leu31Phe/c.91C>T,Ctc/Ttc,MODERATE,,0.00199681,0,rs35817752,0.13(T),"0.093,0.116,0.091,0.08(B,B,B,B)",0(N),-0.9619(T),,chr1,151115007,151115007,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu31Phe/c.91C>T|962|SEMA6C|protein_coding|CODING|NM_001178061.1|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu31Phe/c.91C>T|922|SEMA6C|protein_coding|CODING|NM_001178062.1|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu31Phe/c.91C>T|930|SEMA6C|protein_coding|CODING|NM_030913.4|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.002,0.0043,0.003,0.01,0.00,0.01,,0.493989(N),0.998(N),"2.19,2.38,2.2,2.19(T,T,T,T)",0.0093(T),0.1,1.744264,4.69,1.63,0.462000,0.170000,0.490000,0.962000,0.997000,0.984000,7.5347
missense_variant,SCNM1,MISSENSE,NM_024041.3:p.Glu171Lys/c.511G>A,Gag/Aag,MODERATE,,0.00159744,0.001,rs1115,1(T),0.0(B),-1.04(N),-0.9247(T),,chr1,151140732,151140732,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu136Lys/c.406G>A|195|TNFAIP8L2-SCNM1|protein_coding|CODING|NM_001204848.1|6|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu136Lys/c.406G>A|195|SCNM1|protein_coding|CODING|NM_001204856.1|6|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu171Lys/c.511G>A|230|SCNM1|protein_coding|CODING|NM_024041.3|6|1),downstream_gene_variant(MODIFIER||1731||345|TMOD4|protein_coding|CODING|NM_013353.2||1),non_coding_exon_variant(MODIFIER|||n.592G>A||SCNM1||CODING|NR_037937.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.005,0.01,0.00,0.01,,0.457263(N),0.997(N),,0.0052(T),0.048,0.101785,5.5,0.631,-0.302000,-0.051000,0.689000,0.751000,0.582000,0.989000,4.0816
missense_variant,TMOD4,MISSENSE,NM_013353.2:p.Met332Val/c.994A>G,Atg/Gtg,MODERATE,,0.00139776,0,rs143662204,0.04(D),"0.001,0.0,0.001(B,B,B)",0.255(N),-0.5412(T),,chr1,151143016,151143016,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met332Val/c.994A>G|345|TMOD4|protein_coding|CODING|NM_013353.2|9|1),downstream_gene_variant(MODIFIER||243||195|TNFAIP8L2-SCNM1|protein_coding|CODING|NM_001204848.1||1),downstream_gene_variant(MODIFIER||243||195|SCNM1|protein_coding|CODING|NM_001204856.1||1),downstream_gene_variant(MODIFIER||243||230|SCNM1|protein_coding|CODING|NM_024041.3||1),downstream_gene_variant(MODIFIER||243|||SCNM1||CODING|NR_037937.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.005,0.01,0.00,0.01,,0.000010(N),1.000(D),"-2.92,-2.92(D,D)",0.3565(T),0.094,2.318955,5.88,1.93,0.459000,0.498000,1.746000,0.996000,0.999000,1.000000,9.9734
synonymous_variant,TMOD4,SILENT,NM_013353.2:p.His318His/c.954C>T,caC/caT,LOW,,0.00119808,0,rs34289776,,,,,,chr1,151143056,151143056,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His318His/c.954C>T|345|TMOD4|protein_coding|CODING|NM_013353.2|9|1),downstream_gene_variant(MODIFIER||283||195|TNFAIP8L2-SCNM1|protein_coding|CODING|NM_001204848.1||1),downstream_gene_variant(MODIFIER||283||195|SCNM1|protein_coding|CODING|NM_001204856.1||1),downstream_gene_variant(MODIFIER||283||230|SCNM1|protein_coding|CODING|NM_024041.3||1),downstream_gene_variant(MODIFIER||283|||SCNM1||CODING|NR_037937.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0029,0.003,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,PIP5K1A,SILENT,NM_001135638.1:p.Tyr323Tyr/c.969C>T,taC/taT,LOW,COSM4142615(1),0.641374,0.6121,rs12407426,,,,,,chr1,151209063,151209063,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr311Tyr/c.933C>T|522|PIP5K1A|protein_coding|CODING|NM_001135636.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr310Tyr/c.930C>T|500|PIP5K1A|protein_coding|CODING|NM_001135637.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr323Tyr/c.969C>T|562|PIP5K1A|protein_coding|CODING|NM_001135638.1|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr310Tyr/c.930C>T|549|PIP5K1A|protein_coding|CODING|NM_003557.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5971,0.6138,0.7008,0.69,0.66,0.70,,,,,,,,,,,,,,,,
synonymous_variant,PSMD4,SILENT,NM_002810.2:p.Ser317Ser/c.951T>C,tcT/tcC,LOW,,0.635383,0.6121,rs7489,,,,-1.0795(T),,chr1,151239051,151239051,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser317Ser/c.951T>C|377|PSMD4|protein_coding|CODING|NM_002810.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5971,0.6167,0.7048,0.68,0.64,0.70,,,0.000(P),,0.0100(T),.,-1.018013,5.49,-11.0,-4.631000,-3.580000,-1.536000,0.118000,0.047000,0.014000,2.3535
synonymous_variant,PI4KB,SILENT,NM_002651.2:p.Asp201Asp/c.603T>C,gaT/gaC,LOW,,0.978235,1,rs1752379,,,,,,chr1,151288391,151288391,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp189Asp/c.567T>C|801|PI4KB|protein_coding|CODING|NM_001198773.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp189Asp/c.567T>C|801|PI4KB|protein_coding|CODING|NM_001198774.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp201Asp/c.603T>C|828|PI4KB|protein_coding|CODING|NM_002651.2|3|1),intron_variant(MODIFIER|||c.-42-8114T>C|484|PI4KB|protein_coding|CODING|NM_001198775.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RFX5,SILENT,NM_000449.3:p.Leu251Leu/c.753C>T,ctC/ctT,LOW,,0.978035,1,rs1752386,,,,,,chr1,151316161,151316161,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu251Leu/c.753C>T|616|RFX5|protein_coding|CODING|NM_000449.3|9|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu251Leu/c.753C>T|616|RFX5|protein_coding|CODING|NM_001025603.1|9|1)","H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PSMB4,SILENT,NM_002796.2:p.Pro25Pro/c.75G>A,ccG/ccA,LOW,COSM3996916(2),0.493011,0.2123,rs7172,,,,,,chr1,151372138,151372138,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro25Pro/c.75G>A|264|PSMB4|protein_coding|CODING|NM_002796.2|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,K562:H3K36me3,CD4:MOF,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:SIX5,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,HUVEC:FAIRE,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6667,0.4669,0.835,0.67,0.39,0.82,,,,,,,,,,,,,,,,
missense_variant,PSMB4,MISSENSE,NM_002796.2:p.Ile234Thr/c.701T>C,aTc/aCc,MODERATE,COSM3996917(1),0.192093,0.3165,rs386593970,0(D),0.776(P),2.845(M),-0.8404(T),,chr1,151374025,151374025,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile234Thr/c.701T>C|264|PSMB4|protein_coding|CODING|NM_002796.2|6|1),downstream_gene_variant(MODIFIER||1175||1401|POGZ|protein_coding|CODING|NM_001194937.1||1),downstream_gene_variant(MODIFIER||1175||1348|POGZ|protein_coding|CODING|NM_001194938.1||1),downstream_gene_variant(MODIFIER||1175||1410|POGZ|protein_coding|CODING|NM_015100.3||1),downstream_gene_variant(MODIFIER||1175||1315|POGZ|protein_coding|CODING|NM_145796.3||1),downstream_gene_variant(MODIFIER||1175||1357|POGZ|protein_coding|CODING|NM_207171.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2025,0.3026,0.1461,0.15,0.09,0.17,,0.000035(D),0.000(P),1.74(T),0.1203(T),0.29,3.972373,5.99,5.99,0.533000,2.291000,7.791000,0.519000,0.903000,1.000000,13.8675
missense_variant,OAZ3,MISSENSE,NM_016178.2:p.Leu146Pro/c.437T>C,cTt/cCt,MODERATE,,0.999601,1,rs2495397,,,,-0.9618(T),,chr1,151740666,151740666,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu101Pro/c.302T>C|190|OAZ3|protein_coding|CODING|NM_001134939.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu146Pro/c.437T>C|235|OAZ3|protein_coding|CODING|NM_016178.2|3|1|WARNING_TRANSCRIPT_INCOMPLETE)",NHEK:H3K4me2,,,,1,1,1,1.00,1.00,1.00,,0.000253(D),0.000(P),,0.1042(T),.,2.555688,6.17,5.27,-0.119000,0.963000,1.732000,0.643000,1.000000,1.000000,9.5584
synonymous_variant,C2CD4D,SILENT,NM_001136003.1:p.Cys80Cys/c.240C>T,tgC/tgT,LOW,COSM4142629(1),0.931709,1,rs6673556,,,,,,chr1,151811226,151811226,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys80Cys/c.240C>T|353|C2CD4D|protein_coding|CODING|NM_001136003.1|2|1),intron_variant(MODIFIER|||n.269+13G>A||LOC100132111||NON_CODING|NR_024237.1|1|1)","H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,GM12878:ZEB1,IMR90:H3K27me3,GM12878:H3K4me2",,,,1,0.9841,1,,,,,,,,,,,,,,,,,,,
missense_variant,THEM5,MISSENSE,NM_182578.3:p.Leu206Val/c.616C>G,Ctg/Gtg,MODERATE,,0.996605,1,rs6587624,1(T),0.001(B),-0.855(N),-0.9569(T),,chr1,151820298,151820298,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu206Val/c.616C>G|247|THEM5|protein_coding|CODING|NM_182578.3|5|1),"GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.089221(N),1.000(P),2.4(T),0.0090(T),0.29,-2.207025,5.09,3.13,-0.120000,0.566000,0.135000,0.005000,0.041000,0.017000,3.9831
missense_variant,THEM5,MISSENSE,NM_182578.3:p.Asp197Gly/c.590A>G,gAc/gGc,MODERATE,,0.777955,0.6815,rs6587625,1(T),0.0(B),-1.27(N),-0.9648(T),,chr1,151820324,151820324,T,C,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp197Gly/c.590A>G|247|THEM5|protein_coding|CODING|NM_182578.3|5|1),"GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6258,0.8674,0.833,0.83,0.86,0.81,,0.001017(N),1.000(P),2.71(T),0.0086(T),0.531,-1.506755,5.09,4.17,-0.119000,1.160000,0.635000,0.053000,0.998000,0.999000,7.1408
synonymous_variant,THEM5,SILENT,NM_182578.3:p.Gly17Gly/c.51C>A,ggC/ggA,LOW,COSM4142630(1),0.626597,0.6567,rs7556386,,,,,,chr1,151825991,151825991,G,T,hom,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly17Gly/c.51C>A|247|THEM5|protein_coding|CODING|NM_182578.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4243,0.562,0.6859,0.69,0.72,0.68,,,,,,,,,,,,,,,,
synonymous_variant,THEM4,SILENT,NM_053055.4:p.Asp70Asp/c.210C>T,gaC/gaT,LOW,,0.923123,0.9504,rs3762427,,,,,,chr1,151867560,151867560,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp70Asp/c.210C>T|240|THEM4|protein_coding|CODING|NM_053055.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9356,0.9092,0.9175,0.91,0.91,0.91,,,,,,,,,,,,,,,,
missense_variant,THEM4,MISSENSE,NM_053055.4:p.Leu17Arg/c.50T>G,cTg/cGg,MODERATE,COSM4142631(1),0.922923,0.9494,rs3748805,0.7(T),0.0(B),0(N),-1.0254(T),,chr1,151881885,151881885,A,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu17Arg/c.50T>G|240|THEM4|protein_coding|CODING|NM_053055.4|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:Srf,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6",,,,0.9458,0.9092,0.9155,,,,,0.139768(N),1.000(P),"2.45,1.79(T,T)",0.0075(T),0.071,-0.845033,1.92,-0.278,-0.358000,-0.432000,-0.350000,0.001000,0.000000,0.000000,0.4569
missense_variant,TCHH,MISSENSE,NM_007113.3:p.Leu790Met/c.2368T>A,Ttg/Atg,MODERATE,COSM4142643(1),0.0726837,0.001,rs11803731,0.08(T),0.737(P),0.695(N),-0.9781(T),,chr1,152083325,152083325,A,T,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu790Met/c.2368T>A|1943|TCHH|protein_coding|CODING|NM_007113.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",Hair_morphology,,,0.0634,0.0937,0.2286,0.13,0.04,0.18,,,1.000(P),3.1(T),0.0087(T),0.101,-0.862595,2.41,-0.583,0.255000,0.140000,-0.142000,0.034000,0.003000,0.000000,1.5277
missense_variant,TCHH,MISSENSE,NM_007113.3:p.Leu63Arg/c.188T>G,cTt/cGt,MODERATE,,0.989217,1,rs2515663,1(T),0.003(B),-1.37(N),-0.9482(T),,chr1,152085505,152085505,A,C,hom,missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu63Arg/c.188T>G|1943|TCHH|protein_coding|CODING|NM_007113.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,0.99,0.97,1.00,,,0.948(P),2.55(T),0.0027(T),0.08,-0.043011,4.58,4.58,-0.399000,1.289000,0.546000,0.119000,0.998000,0.404000,10.3459
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Ser799Thr/c.2396G>C,aGt/aCt,MODERATE,COSM1180639(1),0.531749,0.3274,rs6662450,0.67(T),0.014(B),0.345(N),-0.9206(T),,chr1,152191709,152191709,C,G,hom,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser799Thr/c.2396G>C|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3",,,,0.5082,0.5519,0.829,0.73,0.52,0.83,,,1.000(P),3.47(T),0.0030(T),0.033,0.150427,2.17,2.17,0.456000,1.209000,0.562000,0.004000,0.001000,0.000000,7.8348
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.His742His/c.2226C>T,caC/caT,LOW,,0.560104,0.38,rs10788828,,,,,,chr1,152191879,152191879,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His742His/c.2226C>T|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3",,,,0.5133,0.5576,0.83,0.75,0.59,0.83,,,,,,,,,,,,,,,,
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Arg664Gln/c.1991G>A,cGa/cAa,MODERATE,COSM1334101(2),0.559505,0.38,rs7520249,0.95(T),0.001(B),0.46(N),-0.9177(T),,chr1,152192114,152192114,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg664Gln/c.1991G>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,H1ESC:H3K9me3,NHEK:H3K36me3",,,,0.5102,0.5576,0.83,,,,,,1.000(P),3.58(T),0.0019(T),0.07,1.032807,3.4,-3.67,-0.342000,-0.609000,-1.648000,0.001000,0.000000,0.000000,5.3585
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Arg648Ser/c.1942C>A,Cgc/Agc,MODERATE,,,,rs61814943,1(T),0.001(B),-0.895(N),-0.9059(T),,chr1,152192163,152192163,G,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg648Ser/c.1942C>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,H1ESC:H3K9me3,NHEK:H3K36me3",,,,,,,,,,,,1.000(N),3.83(T),0.0008(T),0.106,0.759338,3.86,-7.73,-0.866000,-1.297000,-3.911000,0.000000,0.000000,0.000000,7.1181
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Thr629Ser/c.1886C>G,aCc/aGc,MODERATE,,,,rs79513582,0.78(T),0.0(B),-0.55(N),-0.9542(T),,chr1,152192219,152192219,G,C,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr629Ser/c.1886C>G|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,H1ESC:H3K9me3,NHEK:H3K36me3",,,,,,,,,,,,1.000(N),3.82(T),0.0013(T),0.061,0.150442,3.39,0.355,-0.139000,-0.104000,-5.057000,0.041000,0.000000,0.000000,7.0918
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.Ser604Ser/c.1812G>A,tcG/tcA,LOW,COSM3996924(1),0.549121,0.3313,rs7520375,,,,,,chr1,152192293,152192293,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser604Ser/c.1812G>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.5082,0.5576,0.83,0.74,0.57,0.83,,,,,,,,,,,,,,,,
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.Ser570Ser/c.1710C>T,agC/agT,LOW,COSM146610(1),0.0946486,0.0942,rs61814946,,,,,,chr1,152192395,152192395,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser570Ser/c.1710C>T|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.183,0.0879,0.1322,0.11,0.03,0.15,,,,,,,,,,,,,,,,
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Gly492Arg/c.1474G>A,Gga/Aga,MODERATE,COSM3996925(1),0.559904,0.38,rs6587647,0.25(T),0.007(B),0.805(L),-0.9161(T),,chr1,152192631,152192631,C,T,hom,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly492Arg/c.1474G>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,0.5112,0.5576,0.83,0.75,0.59,0.83,,,1.000(P),3.37(T),0.0042(T),0.061,0.511211,3.63,-3.36,-0.317000,-0.512000,-3.733000,0.000000,0.000000,0.000000,8.7668
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Glu473Gly/c.1418A>G,gAg/gGg,MODERATE,,0.942492,1,rs6587648,0.98(T),0.0(B),-0.345(N),-0.9892(T),,chr1,152192687,152192687,T,C,hom,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu473Gly/c.1418A>G|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,1,0.9841,1,0.95,0.85,1.00,,,1.000(P),4.63(T),0.0007(T),0.04,0.313716,2.99,-0.456,-1.393000,-0.599000,-1.274000,0.000000,0.000000,0.000000,6.6707
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Gly427Asp/c.1280G>A,gGc/gAc,MODERATE,,0.345447,0.2917,rs6666097,0.21(T),0.356(B),0.805(L),-0.8858(T),,chr1,152192825,152192825,C,T,hom,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly427Asp/c.1280G>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HeLa-S3:H3K27me3",,,,0.3875,0.2795,0.5855,0.48,0.26,0.59,,,1.000(P),3.69(T),0.0037(T),0.089,0.675748,3.61,0.311,0.644000,0.181000,-0.075000,0.012000,0.000000,0.000000,3.5232
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Gln376Arg/c.1127A>G,cAa/cGa,MODERATE,,0.942292,0.999,rs6587649,0.58(T),0.0(B),0(N),-0.9088(T),,chr1,152192978,152192978,T,C,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln376Arg/c.1127A>G|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HeLa-S3:H3K27me3",,,,1,0.9841,1,0.95,0.85,1.00,,,1.000(P),4.04(T),0.0015(T),0.01,0.710741,4.26,-8.53,-1.160000,-2.643000,-1.539000,0.000000,0.000000,0.000000,8.9186
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.His351His/c.1053T>C,caT/caC,LOW,,0.914736,1,rs6587650,,,,,,chr1,152193052,152193052,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His351His/c.1053T>C|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HeLa-S3:H3K27me3",,,,0.999,0.9784,1,0.92,0.76,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.Gly328Gly/c.984C>A,ggC/ggA,LOW,COSM146611(1),0.549321,0.3304,rs6587651,,,,,,chr1,152193121,152193121,G,T,hom,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly328Gly/c.984C>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HeLa-S3:H3K27me3",,,,0.5082,0.5576,0.83,0.75,0.59,0.83,,,,,,,,,,,,,,,,
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.His273Gln/c.819C>A,caC/caA,MODERATE,COSM146613(4),0.345847,0.2917,rs7545406,0.67(T),0.001(B),0.205(N),-0.9006(T),,chr1,152193286,152193286,G,T,hom,missense_variant(MODERATE|MISSENSE|caC/caA|p.His273Gln/c.819C>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,0.3875,0.2795,0.5855,0.48,0.26,0.59,,,1.000(P),4.09(T),0.0009(T),0.014,0.169574,4.41,-8.81,-1.517000,-3.578000,-4.851000,0.000000,0.000000,0.000000,0.9813
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.Arg272Arg/c.814C>A,Cga/Aga,LOW,COSM146614(1),0.560104,0.38,rs6587652,,,,,,chr1,152193291,152193291,G,T,hom,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg272Arg/c.814C>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,0.5112,0.5576,0.83,0.75,0.59,0.83,,,,,,,,,,,,,,,,
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.His187His/c.561T>C,caT/caC,LOW,COSM146615(1),0.531949,0.3274,rs7535536,,,,,,chr1,152193544,152193544,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His187His/c.561T>C|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,0.5082,0.5519,0.829,0.73,0.52,0.83,,,,,,,,,,,,,,,,
synonymous_variant,HRNR,SILENT,NM_001009931.2:p.Ser186Ser/c.558C>T,tcC/tcT,LOW,,0.942292,1,rs6587653,,,,,,chr1,152193547,152193547,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser186Ser/c.558C>T|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),"H1ESC:H3K36me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,1,0.9841,0.999,0.95,0.85,1.00,,,,,,,,,,,,,,,,
missense_variant,HRNR,MISSENSE,NM_001009931.2:p.Arg85His/c.254G>A,cGt/cAt,MODERATE,COSM3996926(2),0.532548,0.3284,rs11204937,0.55(T),0.0(B),-0.69(N),-0.9147(T),,chr1,152193851,152193851,C,T,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg85His/c.254G>A|2850|HRNR|protein_coding|CODING|NM_001009931.2|3|1),,,,,0.5082,0.5519,0.829,0.73,0.52,0.83,,,1.000(P),3.31(T),0.0021(T),0.037,-0.364615,4.97,0.954,-1.353000,0.091000,0.309000,0.015000,0.981000,1.000000,7.3624
missense_variant,FLG,MISSENSE,NM_002016.1:p.Ser1207Tyr/c.3620C>A,tCc/tAc,MODERATE,,0.00519169,0,rs142660239,0.05(D),0.008(B),2.34(M),-0.9629(T),,chr1,152283742,152283742,G,T,het,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser1207Tyr/c.3620C>A|4061|FLG|protein_coding|CODING|NM_002016.1|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,NHEK:H3K36me3",,,,0.0031,0.0072,0.0179,0.01,0.00,0.02,,,1.000(N),4.61(T),0.0041(T),0.025,-0.036797,3.13,1.06,0.425000,0.055000,-0.423000,0.001000,0.000000,0.001000,7.3717
synonymous_variant,FLG,SILENT,NM_002016.1:p.Arg412Arg/c.1236T>C,cgT/cgC,LOW,COSM146620(1),0.0860623,0.0992,rs11582620,,,,,,chr1,152286126,152286126,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg412Arg/c.1236T>C|4061|FLG|protein_coding|CODING|NM_002016.1|3|1),non_coding_exon_variant(MODIFIER|||n.192A>G||FLG-AS1||NON_CODING|NR_103778.1|1|1)","H1ESC:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3",,,,0.1708,0.0778,0.1064,0.08,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,LCE5A,MISSENSE,NM_178438.4:p.Cys40Tyr/c.119G>A,tGt/tAt,MODERATE,,0.521965,0.6111,rs2105117,0.05(D),0.003(B),1.7(L),-0.9707(T),,chr1,152484129,152484129,G,A,hom,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys40Tyr/c.119G>A|118|LCE5A|protein_coding|CODING|NM_178438.4|2|1),"GM12878:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6002,0.5346,0.6223,0.54,0.35,0.63,,,1.000(P),3.74(T),0.0054(T),0.108,-0.696693,1.84,0.898,0.195000,0.324000,0.308000,0.794000,0.009000,0.001000,4.2828
synonymous_variant,CRCT1,SILENT,NM_019060.2:p.Cys40Cys/c.120C>T,tgC/tgT,LOW,COSM3748996(14),0.479633,0.6081,rs2282296,,,,,,chr1,152487979,152487979,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys40Cys/c.120C>T|99|CRCT1|protein_coding|CODING|NM_019060.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.6002,0.5245,0.6213,0.57,0.33,0.68,,,,,,,,,,,,,,,,
synonymous_variant,CRCT1,SILENT,NM_019060.2:p.Arg68Arg/c.204C>T,cgC/cgT,LOW,COSM3750360(10),0.585064,0.6478,rs1053588,,,,,,chr1,152488063,152488063,C,T,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg68Arg/c.204C>T|99|CRCT1|protein_coding|CODING|NM_019060.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.6043,0.5476,0.6213,0.64,0.57,0.67,,,,,,,,,,,,,,,,
missense_variant,LCE3D,MISSENSE,NM_032563.1:p.Gly43Val/c.128G>T,gGc/gTc,MODERATE,COSM146624(3),0.276757,0.3264,rs512208,0.22(T),0.169(B),,-0.8845(T),,chr1,152552285,152552285,C,A,het,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly43Val/c.128G>T|92|LCE3D|protein_coding|CODING|NM_032563.1|2|1),"H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,0.2975,0.2853,0.3827,0.30,0.18,0.37,,,1.000(P),3.74(T),0.0040(T),0.124,-1.053864,3.63,0.259,-0.929000,0.318000,0.010000,0.005000,0.642000,0.111000,6.4364
missense_variant,LCE2D,MISSENSE,NM_178430.3:p.Ser88Cys/c.262A>T,Agc/Tgc,MODERATE,,0.124601,0.0298,rs9793541,0(D),0.123(B),2.33(M),-0.9686(T),,chr1,152636843,152636843,A,T,het,missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser88Cys/c.262A>T|110|LCE2D|protein_coding|CODING|NM_178430.3|2|1),"HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.1616,0.1585,0.3032,0.21,0.07,0.29,,,1.000(P),3.35(T),0.0068(T),0.046,0.113868,2.75,0.291,-0.756000,-0.181000,0.682000,0.074000,0.003000,0.001000,4.6936
missense_variant,C1orf68,MISSENSE,NM_001024679.2:p.Ser26Thr/c.77G>C,aGc/aCc,MODERATE,COSM146626(5),0.349241,0.1716,rs1332500,1(T),0.0(B),-0.345(N),-0.9352(T),,chr1,152692074,152692074,G,C,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser26Thr/c.77G>C|250|C1orf68|protein_coding|CODING|NM_001024679.2|1|1),,,,,0.2321,0.3804,0.3608,,,,,0.723727(N),1.000(P),"1.88,1.88(T,T)",0.0058(T),0.087,-1.673937,3.86,0.885,-0.908000,-0.012000,0.412000,0.006000,0.000000,0.001000,2.9191
missense_variant,C1orf68,MISSENSE,NM_001024679.2:p.Thr159Pro/c.475A>C,Act/Cct,MODERATE,COSM146627(2),0.349241,0.1716,rs386618453,0.65(T),0.0(B),-1.245(N),-0.9451(T),,chr1,152692472,152692472,A,C,het,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr159Pro/c.475A>C|250|C1orf68|protein_coding|CODING|NM_001024679.2|1|1),"H1ESC:H3K36me3,H1ESC:H3K9me3",,,,0.2321,0.3804,0.3608,0.40,0.50,0.35,,0.001132(N),1.000(P),"2.23,2.23(T,T)",0.0049(T),0.117,-0.946669,5.4,5.4,-0.225000,1.452000,2.046000,0.287000,0.769000,0.607000,12.041
synonymous_variant,C1orf68,SILENT,NM_001024679.2:p.Ser197Ser/c.591A>G,tcA/tcG,LOW,COSM146628(3),0.349241,0.1716,rs944682,,,,,,chr1,152692588,152692588,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser197Ser/c.591A>G|250|C1orf68|protein_coding|CODING|NM_001024679.2|1|1),"H1ESC:H3K36me3,H1ESC:H3K9me3",,,,0.2321,0.3804,0.3608,0.40,0.50,0.35,,,,,,,,,,,,,,,,
missense_variant,KPRP,MISSENSE,NM_001025231.1:p.Gln14His/c.42A>T,caA/caT,MODERATE,,0.177117,0.2262,rs17612167,0.02(D),0.264(B),0(N),-0.9272(T),,chr1,152732106,152732106,A,T,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln14His/c.42A>T|579|KPRP|protein_coding|CODING|NM_001025231.1|2|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.3252,0.1441,0.2256,0.17,0.04,0.23,,0.050675(N),1.000(P),2.71(T),0.0069(T),0.067,2.367214,5.54,-0.206,-0.250000,0.066000,-0.281000,0.694000,0.917000,0.759000,8.3266
synonymous_variant,KPRP,SILENT,NM_001025231.1:p.Ala124Ala/c.372G>C,gcG/gcC,LOW,COSM3750363(1),0.490415,0.4187,rs4845480,,,,,,chr1,152732436,152732436,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala124Ala/c.372G>C|579|KPRP|protein_coding|CODING|NM_001025231.1|2|1),"GM06990:H3K27me3,NHEK:H3K4me1,GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,NHEK:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,0.4182,0.4914,0.5159,0.52,0.55,0.50,,,,,,,,,,,,,,,,
missense_variant,KPRP,MISSENSE,NM_001025231.1:p.Cys413Ser/c.1237T>A,Tgc/Agc,MODERATE,COSM3750365(3),0.490216,0.4177,rs4329520,0.72(T),0.013(B),1.65(L),-0.9680(T),,chr1,152733301,152733301,T,A,het,missense_variant(MODERATE|MISSENSE|Tgc/Agc|p.Cys413Ser/c.1237T>A|579|KPRP|protein_coding|CODING|NM_001025231.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.4182,0.4914,0.5159,0.52,0.55,0.50,,0.024827(N),1.000(P),1.83(T),0.0122(T),0.033,2.220864,4.88,-0.312,0.379000,-0.142000,-0.196000,0.092000,0.000000,0.000000,0.3401
missense_variant,LCE1F,MISSENSE,NM_178354.2:p.Arg82Trp/c.244C>T,Cgg/Tgg,MODERATE,COSM3976148(2),0.0908546,0.0278,rs41268480,0(D),0.335(B),1.59(L),-0.9799(T),,chr1,152749091,152749091,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg82Trp/c.244C>T|118|LCE1F|protein_coding|CODING|NM_178354.2|1|1),,,,,0.1186,0.1311,0.2117,0.15,0.04,0.21,,,0.982(P),3.79(T),0.0089(T),0.111,1.333655,4.45,4.45,0.557000,2.445000,0.406000,0.487000,0.964000,0.032000,12.7727
missense_variant,LCE1E,MISSENSE,NM_178353.1:p.Ser59Gly/c.175A>G,Agc/Ggc,MODERATE,COSM3747556(1),0.535743,0.4097,rs11205106,0(D),0.0(B),-0.69(N),-0.9190(T),,chr1,152759950,152759950,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser59Gly/c.175A>G|118|LCE1E|protein_coding|CODING|NM_178353.1|2|1),,,,,0.4172,0.5058,0.5,0.56,0.70,0.49,,,1.000(P),"3.85,3.85(T,T)",0.0016(T),0.064,0.788065,3.03,0.345,-1.983000,-0.384000,-0.000000,0.969000,0.995000,0.399000,4.4897
missense_variant,LCE1E,MISSENSE,NM_178353.1:p.Gly111Ser/c.331G>A,Ggc/Agc,MODERATE,,0.0700879,0,rs56313719,0(D),0.0(B),1.61(L),-0.8873(T),,chr1,152760106,152760106,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly111Ser/c.331G>A|118|LCE1E|protein_coding|CODING|NM_178353.1|2|1),,,,,0.0153,0.0418,0.1093,0.10,0.11,0.09,,0.990096(N),1.000(P),"3.5,3.5(T,T)",0.0060(T),0.06,-0.389269,3.91,-4.31,-0.351000,-0.449000,-0.961000,0.003000,0.000000,0.000000,5.3981
synonymous_variant,LCE1C,SILENT,NM_178351.3:p.Cys29Cys/c.87T>C,tgT/tgC,LOW,COSM4142709(1),0.186901,0.0347,rs36107483,,,,,,chr1,152777868,152777868,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys29Cys/c.87T>C|118|LCE1C|protein_coding|CODING|NM_178351.3|2|1),intron_variant(MODIFIER|||c.44+43T>C|88|LCE1C|protein_coding|CODING|NM_001276331.1|2|1)",,,,,0.1636,0.2262,0.3608,0.29,0.19,0.34,,,,,,,,,,,,,,,,
missense_variant,SPRR1A,MISSENSE,NM_001199828.1:p.His42Gln/c.126C>A,caC/caA,MODERATE,COSM3747557(4),0.505391,0.5972,rs1611762,0.2(T),0.056(B),,-0.9541(T),,chr1,152957832,152957832,C,A,het,"missense_variant(MODERATE|MISSENSE|caC/caA|p.His42Gln/c.126C>A|89|SPRR1A|protein_coding|CODING|NM_001199828.1|2|1),missense_variant(MODERATE|MISSENSE|caC/caA|p.His42Gln/c.126C>A|89|SPRR1A|protein_coding|CODING|NM_005987.3|2|1)",GM12878:H3K36me3,,,,0.499,0.4395,0.5348,,,,,0.441596(N),1.000(P),"2.57,2.57(T,T)",0.0092(T),0.132,1.119172,4.77,1.54,0.549000,0.397000,0.156000,0.731000,0.970000,0.620000,7.3544
missense_variant,SPRR1A,MISSENSE,NM_001199828.1:p.Val61Ile/c.181G>A,Gtt/Att,MODERATE,COSM3750369(2),0.561102,0.6319,rs1611764,0.12(T),0.542(P),,-1.0254(T),,chr1,152957887,152957887,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val61Ile/c.181G>A|89|SPRR1A|protein_coding|CODING|NM_001199828.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val61Ile/c.181G>A|89|SPRR1A|protein_coding|CODING|NM_005987.3|2|1)",GM12878:H3K36me3,,,,0.502,0.4524,0.5348,0.58,0.64,0.54,,0.817264(N),1.000(P),"2.48,2.48(T,T)",0.0212(T),0.052,1.983175,5.64,3.77,-0.266000,1.389000,1.015000,0.039000,0.277000,0.044000,7.7627
synonymous_variant,SPRR3,SILENT,NM_001097589.1:p.Gly89Gly/c.267C>A,ggC/ggA,LOW,COSM3750370(2),0.524561,0.6319,rs1977734,,,,,,chr1,152975763,152975763,C,A,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly89Gly/c.267C>A|169|SPRR3|protein_coding|CODING|NM_001097589.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly89Gly/c.267C>A|169|SPRR3|protein_coding|CODING|NM_005416.2|3|1)",,,,,0.5051,0.4323,0.5318,0.54,0.52,0.54,,,,,,,,,,,,,,,,
synonymous_variant,SPRR3,SILENT,NM_001097589.1:p.Glu111Glu/c.333A>G,gaA/gaG,LOW,COSM3750371(2),0.52496,0.6319,rs1970328,,,,,,chr1,152975829,152975829,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu111Glu/c.333A>G|169|SPRR3|protein_coding|CODING|NM_001097589.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu111Glu/c.333A>G|169|SPRR3|protein_coding|CODING|NM_005416.2|3|1)",,,,,0.5051,0.4337,0.5328,0.54,0.52,0.54,,,,,,,,,,,,,,,,
missense_variant,SPRR3,MISSENSE,NM_001097589.1:p.Leu149Val/c.445C>G,Cta/Gta,MODERATE,COSM3750372(2),0.583466,0.6319,rs1055935,0.38(T),"0.002,0.001(B,B)",-1.04(N),-0.9201(T),,chr1,152975941,152975941,C,G,het,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu149Val/c.445C>G|169|SPRR3|protein_coding|CODING|NM_001097589.1|2|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu149Val/c.445C>G|169|SPRR3|protein_coding|CODING|NM_005416.2|3|1)",,,,,0.5051,0.4496,0.5328,0.59,0.68,0.54,,,1.000(P),"3.17,3.17,3.17,3.17(T,T,T,T)",0.0020(T),0.249,-1.623696,4.27,-0.145,-0.990000,0.064000,0.505000,0.001000,0.001000,0.001000,1.562
synonymous_variant,SPRR1B,SILENT,NM_003125.2:p.Pro9Pro/c.27T>C,ccT/ccC,LOW,COSM3750373(3),0.49401,0.5913,rs3795381,,,,,,chr1,153004848,153004848,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro9Pro/c.27T>C|89|SPRR1B|protein_coding|CODING|NM_003125.2|2|1),"NHEK:H3K36me3,HMEC:H3K4me1,HMEC:H3K4me3",,,,0.499,0.4251,0.5099,0.50,0.47,0.51,,,,,,,,,,,,,,,,
missense_variant,SPRR1B,MISSENSE,NM_003125.2:p.Thr11Ile/c.32C>T,aCc/aTc,MODERATE,COSM1180658(4),0.49401,0.5913,rs3795382,0.37(T),0.001(B),,-0.9108(T),,chr1,153004853,153004853,C,T,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr11Ile/c.32C>T|89|SPRR1B|protein_coding|CODING|NM_003125.2|2|1),"NHEK:H3K36me3,HMEC:H3K4me1,HMEC:H3K4me3",,,,0.499,0.4251,0.5099,0.50,0.47,0.51,,,1.000(P),"2.62,2.51(T,T)",0.0074(T),0.107,-0.558376,3.98,-0.059,-1.551000,-0.338000,-0.240000,0.408000,0.000000,0.005000,8.0665
synonymous_variant,SPRR1B,SILENT,NM_003125.2:p.Pro54Pro/c.162C>T,ccC/ccT,LOW,COSM3750374(1),0.497604,0.5923,rs12195,,,,,,chr1,153004983,153004983,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro54Pro/c.162C>T|89|SPRR1B|protein_coding|CODING|NM_003125.2|2|1),"NHEK:H3K36me3,HMEC:H3K4me1,HMEC:H3K4me3",,,,0.5061,0.4265,0.5179,0.51,0.47,0.52,,,,,,,,,,,,,,,,
missense_variant,LOR,MISSENSE,NM_000427.2:p.Ser29Gly/c.85A>G,Agc/Ggc,MODERATE,COSM3747558(4),0.182109,0.0655,rs6661601,0(D),0.001(B),-1.15(N),-0.9486(T),,chr1,153233510,153233510,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser29Gly/c.85A>G|312|LOR|protein_coding|CODING|NM_000427.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1912,0.281,0.3419,,,,,0.794265(N),1.000(P),1.4(T),0.0103(T),0.223,-0.577954,3.17,-4.02,-0.337000,-0.694000,0.658000,0.033000,0.000000,0.516000,8.6837
missense_variant,PGLYRP3,MISSENSE,NM_052891.1:p.Gly126Ser/c.376G>A,Ggc/Agc,MODERATE,COSM3750376(2),0.469848,0.5833,rs843971,,0.6(P),1.11(L),-1.0585(T),,chr1,153277423,153277423,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly126Ser/c.376G>A|341|PGLYRP3|protein_coding|CODING|NM_052891.1|3|1),splice_region_variant(LOW|||c.376G>A|341|PGLYRP3|protein_coding|CODING|NM_052891.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.5501,0.4553,0.3996,0.38,0.38,0.39,,0.000123(D),0.428(P),2.6(T),0.0217(T),0.228,2.988634,4.48,4.48,0.557000,2.307000,2.539000,0.269000,0.991000,0.977000,12.509
missense_variant,PGLYRP4,MISSENSE,NM_020393.2:p.Gly192Val/c.575G>T,gGg/gTg,MODERATE,,0.844449,0.9058,rs3006448,0.38(T),"0.0,0.0(B,B)",-1.555(N),-0.9349(T),,chr1,153314153,153314153,C,A,het,missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly192Val/c.575G>T|373|PGLYRP4|protein_coding|CODING|NM_020393.2|6|1),"GM12878:H3K27ac,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.865,0.866,0.8767,0.82,0.77,0.85,,0.098963(N),0.842(P),"3.58,3.58(T,T)",0.0013(T),0.055,-2.107488,4.2,3.02,-0.335000,0.150000,0.898000,0.135000,0.997000,0.976000,4.5529
synonymous_variant,PGLYRP4,SILENT,NM_020393.2:p.Phe153Phe/c.459T>C,ttT/ttC,LOW,,0.927117,0.9058,rs3014863,,,,,,chr1,153315579,153315579,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe153Phe/c.459T>C|373|PGLYRP4|protein_coding|CODING|NM_020393.2|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,K562:H3K4me1,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8896,0.9135,0.9165,0.93,0.98,0.91,,,,,,,,,,,,,,,,
missense_variant,PGLYRP4,MISSENSE,NM_020393.2:p.Ile13Leu/c.37A>C,Atc/Ctc,MODERATE,COSM4142720(1),0.794129,0.7411,rs3006458,1(T),"0.0,0.0(B,B)",0(N),-0.9624(T),,chr1,153320372,153320372,T,G,het,missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile13Leu/c.37A>C|373|PGLYRP4|protein_coding|CODING|NM_020393.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8456,0.8588,0.8728,0.81,0.73,0.85,,0.012140(N),1.000(P),"3.93,3.93(T,T)",0.0012(T),0.032,-0.118794,3.39,-1.05,-0.217000,-0.484000,0.178000,0.702000,0.003000,0.003000,2.0575
missense_variant,S100A7L2,MISSENSE,NM_001045479.1:p.Gly6Val/c.17G>T,gGc/gTc,MODERATE,,0.614217,0.6042,rs10888561,0.02(D),,,-0.9681(T),,chr1,153410822,153410822,C,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly6Val/c.17G>T|112|S100A7L2|protein_coding|CODING|NM_001045479.1|2|1),splice_region_variant(LOW|||c.17G>T|112|S100A7L2|protein_coding|CODING|NM_001045479.1|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5869,0.7061,0.7376,0.67,0.53,0.74,,,0.999(P),2.69(T),0.0128(T),0.029,1.064220,1.36,-1.48,-0.714000,-0.390000,-0.069000,0.001000,0.001000,0.005000,2.9716
missense_variant,S100A7,MISSENSE,NM_002963.3:p.Glu28Asp/c.84G>C,gaG/gaC,MODERATE,,0.983427,1,rs3014837,1(T),0.0(B),-0.6(N),-0.9211(T),,chr1,153431406,153431406,C,G,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu28Asp/c.84G>C|101|S100A7|protein_coding|CODING|NM_002963.3|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9857,0.9856,0.9573,0.96,0.99,0.94,,,1.000(P),"3.5,3.5(T,T)",0.0019(T),0.019,-1.372101,1.89,-0.422,-1.042000,-0.419000,0.243000,0.443000,0.002000,0.055000,9.6778
synonymous_variant,S100A5,SILENT,NM_002962.1:p.Asp53Asp/c.159T>C,gaT/gaC,LOW,COSM3996952(1),0.114816,0.0724,rs2248745,,,,,,chr1,153509892,153509892,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp53Asp/c.159T>C|92|S100A5|protein_coding|CODING|NM_002962.1|4|1),upstream_gene_variant(MODIFIER||1175||90|S100A6|protein_coding|CODING|NM_014624.3||1)","H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.0787,0.1066,0.0905,0.13,0.19,0.10,,,,,,,,,,,,,,,,
synonymous_variant,CREB3L4,SILENT,NM_001255978.1:p.Leu112Leu/c.336C>G,ctC/ctG,LOW,,0.000798722,0,rs45600231,,,,,,chr1,153941567,153941567,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu112Leu/c.336C>G|395|CREB3L4|protein_coding|CODING|NM_001255978.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu112Leu/c.336C>G|395|CREB3L4|protein_coding|CODING|NM_001255979.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu92Leu/c.276C>G|375|CREB3L4|protein_coding|CODING|NM_001255980.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu92Leu/c.276C>G|375|CREB3L4|protein_coding|CODING|NM_001255981.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu112Leu/c.336C>G|395|CREB3L4|protein_coding|CODING|NM_130898.3|3|1),upstream_gene_variant(MODIFIER||1359||324|SLC39A1|protein_coding|CODING|NM_014437.4||1),upstream_gene_variant(MODIFIER||907||324|SLC39A1|protein_coding|CODING|NM_001271960.1||1),intron_variant(MODIFIER|||n.505-243C>G||CREB3L4||CODING|NR_045658.1|2|1)","NHEK:H3K36me3,HepG2:H3K27me3,K562:H3K4me2",,,,0,0,0.004,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,NUP210L,SILENT,NM_207308.2:p.Asn304Asn/c.912C>T,aaC/aaT,LOW,,0.96905,1,rs3001361,,,,,,chr1,154108387,154108387,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn304Asn/c.912C>T|1736|NUP210L|protein_coding|CODING|NM_001159484.1|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn304Asn/c.912C>T|1888|NUP210L|protein_coding|CODING|NM_207308.2|7|1)",,,,,1,0.9942,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,C1orf189,SILENT,NM_001010979.2:p.Val23Val/c.69C>T,gtC/gtT,LOW,COSM3750383(1),0.0383387,0.001,rs74957241,,,,,,chr1,154178079,154178079,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val23Val/c.69C>T|101|C1orf189|protein_coding|CODING|NM_001010979.2|2|1),downstream_gene_variant(MODIFIER||1098||253|C1orf43|protein_coding|CODING|NM_001098616.2||1),downstream_gene_variant(MODIFIER||1098||152|C1orf43|protein_coding|CODING|NM_001297717.1||1),downstream_gene_variant(MODIFIER||1098||218|C1orf43|protein_coding|CODING|NM_001297718.1||1),downstream_gene_variant(MODIFIER||1098||235|C1orf43|protein_coding|CODING|NM_001297720.1||1),downstream_gene_variant(MODIFIER||1098||219|C1orf43|protein_coding|CODING|NM_015449.3||1),downstream_gene_variant(MODIFIER||1098||201|C1orf43|protein_coding|CODING|NM_138740.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.0677,0.1163,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,AQP10,MISSENSE,NM_080429.2:p.Arg15Gln/c.44G>A,cGg/cAg,MODERATE,,0.273163,0.2093,rs6668968,0.77(T),"0.005,0.004(B,B)",1.21(L),-0.9700(T),,chr1,154293675,154293675,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg15Gln/c.44G>A|301|AQP10|protein_coding|CODING|NM_080429.2|1|1),"K562:Max,K562:H3K4me3,K562:PolII,HUVEC:H3K27me3,K562:H3K27ac,NH-A:H3K27me3,K562:Gata1,K562:Cmyc,K562:Gata2,K562:E2F6,K562:Cjun,K562:H3K9ac,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,NHEK:DNase1,K562:DNase1",,,,0.3262,0.2349,0.3181,0.28,0.26,0.30,,0.005773(N),1.000(P),"-1.8,-1.92(D,D)",0.1921(T),0.037,1.885123,5.09,-1.33,0.505000,-0.423000,-0.528000,0.918000,0.113000,0.038000,10.0901
missense_variant,AQP10,MISSENSE,NM_080429.2:p.His123Tyr/c.367C>T,Cat/Tat,MODERATE,COSM3750385(1),0.293331,0.2103,rs6685323,1(T),"0.0,0.0(B,B)",-1.01(N),-1.0583(T),,chr1,154295592,154295592,C,T,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His123Tyr/c.367C>T|301|AQP10|protein_coding|CODING|NM_080429.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3262,0.2363,0.3181,0.30,0.31,0.30,,0.000008(N),1.000(P),"-1.91,-1.91(D,D)",0.0812(T),0.063,-1.265997,4.92,3.79,-0.369000,0.385000,0.995000,0.307000,0.978000,0.998000,8.098
synonymous_variant,ATP8B2,SILENT,NM_020452.3:p.Asn153Asn/c.459T>C,aaT/aaC,LOW,COSM3750388(1),0.291334,0.2103,rs6702754,,,,,,chr1,154303976,154303976,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn120Asn/c.360T>C|387|ATP8B2|protein_coding|CODING|NM_001005855.1|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn153Asn/c.459T>C|1223|ATP8B2|protein_coding|CODING|NM_020452.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3211,0.2363,0.3181,0.30,0.31,0.30,,,,,,,,,,,,,,,,
synonymous_variant,ATP8B2,SILENT,NM_001005855.1:p.Leu354Leu/c.1062C>G,ctC/ctG,LOW,COSM3750389(1),0.429912,0.624,rs1760795,,,,,,chr1,154310048,154310048,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu354Leu/c.1062C>G|387|ATP8B2|protein_coding|CODING|NM_001005855.1|12|1),intron_variant(MODIFIER|||c.1133+28C>G|1223|ATP8B2|protein_coding|CODING|NM_020452.3|12|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,CD4:H3K4me2,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.5317,0.4957,0.4523,0.38,0.21,0.47,,,,,,,,,,,,,,,,
synonymous_variant,ATP8B2,SILENT,NM_020452.3:p.Ser759Ser/c.2277C>T,tcC/tcT,LOW,COSM3750390(1),0.419928,0.624,rs1194587,,,,,,chr1,154317153,154317153,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser759Ser/c.2277C>T|1223|ATP8B2|protein_coding|CODING|NM_020452.3|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.4899,0.4523,0.37,0.18,0.47,,,,,,,,,,,,,,,,
missense_variant,IL6R,MISSENSE,NM_000565.3:p.Asp358Ala/c.1073A>C,gAt/gCt,MODERATE,,0.293131,0.3234,rs2228145,0.35(T),0.02(B),2.14(M),-0.9766(T),,chr1,154426970,154426970,A,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp358Ala/c.1073A>C|468|IL6R|protein_coding|CODING|NM_000565.3|9|1),intron_variant(MODIFIER|||c.1066+4514A>C|365|IL6R|protein_coding|CODING|NM_181359.2|8|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K27me3","Fibrinogen,C_reactive_protein",RCV000015767.1|RCV000029243.1,,0.2996,0.536,0.3598,0.32,0.15,0.40,,0.000000(N),0.000(P),2.34(T),0.1172(T),0.356,1.499781,4.03,2.85,0.454000,0.662000,0.915000,0.291000,0.672000,0.167000,6.5
synonymous_variant,SHE,SILENT,NM_001010846.2:p.Arg124Arg/c.372G>C,cgG/cgC,LOW,COSM3750395(2),0.776957,0.9117,rs4845635,,,,,,chr1,154474131,154474131,C,G,hom,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg124Arg/c.372G>C|495|SHE|protein_coding|CODING|NM_001010846.2|1|1),upstream_gene_variant(MODIFIER||564||366|TDRD10|protein_coding|CODING|NM_001098475.1||1),upstream_gene_variant(MODIFIER||564||351|TDRD10|protein_coding|CODING|NM_182499.3||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.8057,0.879,0.8241,0.76,0.62,0.83,,,,,,,,,,,,,,,,
synonymous_variant,TDRD10,SILENT,NM_001098475.1:p.Ala212Ala/c.636T>C,gcT/gcC,LOW,,0.900359,1,rs386604306,,,,,,chr1,154516571,154516571,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala212Ala/c.636T>C|366|TDRD10|protein_coding|CODING|NM_001098475.1|9|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala212Ala/c.636T>C|351|TDRD10|protein_coding|CODING|NM_182499.3|9|1)","GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9784,0.997,0.90,0.72,1.00,,,,,,,,,,,,,,,,
missense_variant,TDRD10,MISSENSE,NM_001098475.1:p.Val215Ile/c.643G>A,Gtc/Atc,MODERATE,,0.18111,0.1706,rs3811448,1(T),"0.001,0.0(B,B)",-0.205(N),-0.9580(T),,chr1,154516578,154516578,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val215Ile/c.643G>A|366|TDRD10|protein_coding|CODING|NM_001098475.1|9|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val215Ile/c.643G>A|351|TDRD10|protein_coding|CODING|NM_182499.3|9|1)","GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.229,0.1455,0.2256,0.18,0.14,0.20,,0.584115(N),1.000(P),"2.91,2.91(T,T)",0.0023(T),0.043,-0.759617,3.46,-6.93,-0.381000,-2.265000,-1.526000,0.753000,0.004000,0.000000,4.8941
synonymous_variant,ADAR,SILENT,NM_001111.4:p.Val894Val/c.2682G>A,gtG/gtA,LOW,,0.28095,0.3244,rs1127309,,,,,,chr1,154561925,154561925,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val599Val/c.1797G>A|931|ADAR|protein_coding|CODING|NM_001025107.2|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val894Val/c.2682G>A|1226|ADAR|protein_coding|CODING|NM_001111.4|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val599Val/c.1797G>A|931|ADAR|protein_coding|CODING|NM_001193495.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val868Val/c.2604G>A|1200|ADAR|protein_coding|CODING|NM_015840.3|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val849Val/c.2547G>A|1181|ADAR|protein_coding|CODING|NM_015841.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.226,0.2133,0.3221,0.30,0.31,0.29,,,,,,,,,,,,,,,,
missense_variant,ADAR,MISSENSE,NM_001111.4:p.Lys384Arg/c.1151A>G,aAa/aGa,MODERATE,,0.622604,0.6687,rs2229857,0.42(T),"0.001,0.001,0.0(B,B,B)",1.1(L),-0.9759(T),,chr1,154573967,154573967,T,C,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys89Arg/c.266A>G|931|ADAR|protein_coding|CODING|NM_001025107.2|2|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys384Arg/c.1151A>G|1226|ADAR|protein_coding|CODING|NM_001111.4|2|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys89Arg/c.266A>G|931|ADAR|protein_coding|CODING|NM_001193495.1|2|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys384Arg/c.1151A>G|1200|ADAR|protein_coding|CODING|NM_015840.3|2|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys384Arg/c.1151A>G|1181|ADAR|protein_coding|CODING|NM_015841.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7699,0.7579,0.673,0.61,0.43,0.70,,0.020199(N),1.000(P),"2.72,2.73,2.51,2.73(T,T,T,T)",0.0089(T),0.021,1.460707,4.54,-0.812,0.459000,-0.036000,-0.342000,0.025000,0.000000,0.000000,4.8985
missense_variant,ADAR,MISSENSE,NM_001111.4:p.Arg100Gly/c.298A>G,Aga/Gga,MODERATE,,0.996206,1,rs1466731,0.75(T),"0.0,0.0,0.0(B,B,B)",1.59(L),-1.0146(T),,chr1,154574820,154574820,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg100Gly/c.298A>G|1226|ADAR|protein_coding|CODING|NM_001111.4|2|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg100Gly/c.298A>G|1200|ADAR|protein_coding|CODING|NM_015840.3|2|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg100Gly/c.298A>G|1181|ADAR|protein_coding|CODING|NM_015841.3|2|1),5_prime_UTR_variant(MODIFIER||588|c.-588A>G|931|ADAR|protein_coding|CODING|NM_001025107.2|2|1),5_prime_UTR_variant(MODIFIER||588|c.-588A>G|931|ADAR|protein_coding|CODING|NM_001193495.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.001935(N),1.000(P),"2.41,2.45,2.59(T,T,T)",0.0095(T),0.084,-0.449186,4.56,-2.82,-1.163000,-1.003000,-0.947000,0.000000,0.000000,0.000000,2.295
synonymous_variant,ADAR,SILENT,NM_001111.4:p.Arg26Arg/c.78G>A,agG/agA,LOW,,0.997005,1,rs1802645,,,,,,chr1,154575040,154575040,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg26Arg/c.78G>A|1226|ADAR|protein_coding|CODING|NM_001111.4|2|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg26Arg/c.78G>A|1200|ADAR|protein_coding|CODING|NM_015840.3|2|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg26Arg/c.78G>A|1181|ADAR|protein_coding|CODING|NM_015841.3|2|1),5_prime_UTR_variant(MODIFIER||808|c.-808G>A|931|ADAR|protein_coding|CODING|NM_001025107.2|2|1),5_prime_UTR_variant(MODIFIER||808|c.-808G>A|931|ADAR|protein_coding|CODING|NM_001193495.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KCNN3,SILENT,NM_001204087.1:p.Leu364Leu/c.1092G>C,ctG/ctC,LOW,COSM4142768(1),0.535343,0.5198,rs1051614,,,,,,chr1,154744807,154744807,C,G,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu364Leu/c.1092G>C|746|KCNN3|protein_coding|CODING|NM_001204087.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu364Leu/c.1092G>C|731|KCNN3|protein_coding|CODING|NM_002249.5|3|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu59Leu/c.177G>C|426|KCNN3|protein_coding|CODING|NM_170782.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.6268,0.4625,0.6252,0.58,0.52,0.61,,,,,,,,,,,,,,,,
synonymous_variant,KCNN3,SILENT,NM_001204087.1:p.Asn349Asn/c.1047T>C,aaT/aaC,LOW,COSM4142770(1),0.779153,0.9831,rs1131820,,,,,,chr1,154744852,154744852,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn349Asn/c.1047T>C|746|KCNN3|protein_coding|CODING|NM_001204087.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn349Asn/c.1047T>C|731|KCNN3|protein_coding|CODING|NM_002249.5|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn44Asn/c.132T>C|426|KCNN3|protein_coding|CODING|NM_170782.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.8129,0.8401,0.7445,0.71,0.64,0.74,,,,,,,,,,,,,,,,
synonymous_variant,PBXIP1,SILENT,NM_020524.2:p.Leu600Leu/c.1798C>T,Ctg/Ttg,LOW,,0.0273562,0,rs41264253,,,,,,chr1,154918352,154918352,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu600Leu/c.1798C>T|731|PBXIP1|protein_coding|CODING|NM_020524.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.0092,0.0418,0.0964,0.07,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,ADAM15,MISSENSE,NM_207197.2:p.Lys191Thr/c.572A>C,aAg/aCg,MODERATE,,0.901957,0.9901,rs6427128,0.61(T),"0.001,0.0,0.001,0.001,0.001,0.001,0.0,0.0(B,B,B,B,B,B,B,B)",-0.345(N),-1.0552(T),,chr1,155026942,155026942,A,C,hom,"missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys201Thr/c.602A>C|824|ADAM15|protein_coding|CODING|NM_001261464.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys191Thr/c.572A>C|796|ADAM15|protein_coding|CODING|NM_001261465.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys175Thr/c.524A>C|633|ADAM15|protein_coding|CODING|NM_001261466.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys191Thr/c.572A>C|814|ADAM15|protein_coding|CODING|NM_003815.4|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys191Thr/c.572A>C|772|ADAM15|protein_coding|CODING|NM_207191.2|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys191Thr/c.572A>C|839|ADAM15|protein_coding|CODING|NM_207194.2|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys191Thr/c.572A>C|838|ADAM15|protein_coding|CODING|NM_207195.2|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys191Thr/c.572A>C|862|ADAM15|protein_coding|CODING|NM_207196.2|6|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys191Thr/c.572A>C|863|ADAM15|protein_coding|CODING|NM_207197.2|6|1),intron_variant(MODIFIER|||n.236-5105T>G||LOC100505666||NON_CODING|NR_040773.1|1|1),non_coding_exon_variant(MODIFIER|||n.687A>C||ADAM15||CODING|NR_048577.1|6|1),non_coding_exon_variant(MODIFIER|||n.687A>C||ADAM15||CODING|NR_048578.1|6|1),non_coding_exon_variant(MODIFIER|||n.687A>C||ADAM15||CODING|NR_048579.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8967,0.9308,0.8439,0.87,0.90,0.86,,0.464546(N),1.000(P),"5.66,5.66,5.66,5.57,5.49,5.66,5.63,5.66(T,T,T,T,T,T,T,T)",0.0005(T),0.06,-0.065431,5.09,3.24,-0.217000,0.348000,-0.148000,0.012000,0.000000,0.000000,4.3772
synonymous_variant,ADAM15,SILENT,NM_207197.2:p.Thr549Thr/c.1647A>C,acA/acC,LOW,,0.324481,0.0069,rs11264303,,,,,,chr1,155030557,155030557,A,C,hom,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr559Thr/c.1677A>C|824|ADAM15|protein_coding|CODING|NM_001261464.1|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr549Thr/c.1647A>C|796|ADAM15|protein_coding|CODING|NM_001261465.1|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr533Thr/c.1599A>C|633|ADAM15|protein_coding|CODING|NM_001261466.1|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr549Thr/c.1647A>C|814|ADAM15|protein_coding|CODING|NM_003815.4|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr549Thr/c.1647A>C|772|ADAM15|protein_coding|CODING|NM_207191.2|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr549Thr/c.1647A>C|839|ADAM15|protein_coding|CODING|NM_207194.2|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr549Thr/c.1647A>C|838|ADAM15|protein_coding|CODING|NM_207195.2|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr549Thr/c.1647A>C|862|ADAM15|protein_coding|CODING|NM_207196.2|14|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr549Thr/c.1647A>C|863|ADAM15|protein_coding|CODING|NM_207197.2|14|1),intron_variant(MODIFIER|||n.235+5676T>G||LOC100505666||NON_CODING|NR_040773.1|1|1),non_coding_exon_variant(MODIFIER|||n.1762A>C||ADAM15||CODING|NR_048577.1|14|1),non_coding_exon_variant(MODIFIER|||n.1762A>C||ADAM15||CODING|NR_048578.1|14|1),non_coding_exon_variant(MODIFIER|||n.1762A>C||ADAM15||CODING|NR_048579.1|14|1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.2904,0.3127,0.5179,0.51,0.48,0.53,,,,,,,,,,,,,,,,
missense_variant,ADAM15,MISSENSE,NM_207197.2:p.Pro769Ser/c.2305C>T,Ccc/Tcc,MODERATE,COSM3747567(2),0.133187,0.002,rs41264285,0.53(T),"0.453,0.453,0.453,0.265,0.265(P,P,P,B,B)",0.345(N),-0.5594(T),,chr1,155033918,155033918,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro769Ser/c.2305C>T|839|ADAM15|protein_coding|CODING|NM_207194.2|20|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro769Ser/c.2305C>T|863|ADAM15|protein_coding|CODING|NM_207197.2|20|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro768Ser/c.2302C>T|862|ADAM15|protein_coding|CODING|NM_207196.2|20|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro744Pro/c.2232C>T|796|ADAM15|protein_coding|CODING|NM_001261465.1|19|1),intron_variant(MODIFIER|||n.235+2315G>A||LOC100505666||NON_CODING|NR_040773.1|1|1),intron_variant(MODIFIER|||c.2208-803C>T|772|ADAM15|protein_coding|CODING|NM_207191.2|18|1),intron_variant(MODIFIER|||c.2278-462C>T|838|ADAM15|protein_coding|CODING|NM_207195.2|19|1),intron_variant(MODIFIER|||n.2393-462C>T||ADAM15||CODING|NR_048579.1|19|1),intron_variant(MODIFIER|||c.2307+610C>T|824|ADAM15|protein_coding|CODING|NM_001261464.1|19|1),intron_variant(MODIFIER|||c.2277+610C>T|814|ADAM15|protein_coding|CODING|NM_003815.4|19|1),non_coding_exon_variant(MODIFIER|||n.2420C>T||ADAM15||CODING|NR_048578.1|20|1),non_coding_exon_variant(MODIFIER|||n.2417C>T||ADAM15||CODING|NR_048577.1|20|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:DNase1",,,,0.1329,0.1254,0.1928,0.21,0.20,0.21,,0.013043(N),0.000(P),"5.81,5.78,5.76(T,T,T)",0.0009(T),0.16,2.904433,5.37,3.41,0.639000,0.573000,0.856000,0.958000,0.583000,0.636000,12.0856
missense_variant,EFNA1,MISSENSE,NM_004428.2:p.Asp159Val/c.476A>T,gAc/gTc,MODERATE,COSM3750404(2),0.319888,0.1964,rs4745,0.32(T),"0.0,0.0(B,B)",-0.345(N),-0.9012(T),,chr1,155106227,155106227,A,T,het,"missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp159Val/c.476A>T|205|EFNA1|protein_coding|CODING|NM_004428.2|4|1),missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp137Val/c.410A>T|183|EFNA1|protein_coding|CODING|NM_182685.1|3|1),upstream_gene_variant(MODIFIER||1593||156|SLC50A1|protein_coding|CODING|NM_001287590.1||1),upstream_gene_variant(MODIFIER||1593||183|SLC50A1|protein_coding|CODING|NM_001287591.1||1),upstream_gene_variant(MODIFIER||1593||103|SLC50A1|protein_coding|CODING|NM_001287592.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4714,0.3141,0.5209,0.41,0.17,0.53,,0.987808(N),0.006(P),"-3.2,-3.16(D,D)",0.2623(T),0.067,1.411824,5.64,-0.259,-0.396000,-0.223000,-0.443000,0.699000,0.784000,0.002000,3.6358
synonymous_variant,TRIM46,SILENT,NM_025058.4:p.Thr287Thr/c.861G>A,acG/acA,LOW,COSM1334562(2),0.445887,0.7629,rs3814316,,,,,,chr1,155149718,155149718,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr274Thr/c.822G>A|717|TRIM46|protein_coding|CODING|NM_001256600.1|6|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr264Thr/c.792G>A|736|TRIM46|protein_coding|CODING|NM_001256599.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr274Thr/c.822G>A|746|TRIM46|protein_coding|CODING|NM_001256601.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr161Thr/c.483G>A|633|TRIM46|protein_coding|CODING|NM_001282378.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr287Thr/c.861G>A|551|TRIM46|protein_coding|CODING|NM_001282379.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr287Thr/c.861G>A|759|TRIM46|protein_coding|CODING|NM_025058.4|5|1),non_coding_exon_variant(MODIFIER|||n.1041G>A||TRIM46||CODING|NR_046327.1|5|1),non_coding_exon_variant(MODIFIER|||n.1100G>A||TRIM46||CODING|NR_046329.1|6|1),non_coding_exon_variant(MODIFIER|||n.1041G>A||TRIM46||CODING|NR_104150.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27ac,NHEK:H3K36me3",,,,0.4274,0.5706,0.3579,0.33,0.27,0.36,,,,,,,,,,,,,,,,
missense_variant,MUC1,MISSENSE,NM_001204286.1:p.Gly205Ser/c.613G>A,Ggc/Agc,MODERATE,,0.00539137,0.001,rs11465205,0.79(T),0.052(B),0.895(L),-0.9342(T),,chr1,155160941,155160941,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly196Ser/c.586G>A|475|MUC1|protein_coding|CODING|NM_001204285.1|4|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly205Ser/c.613G>A|484|MUC1|protein_coding|CODING|NM_001204286.1|4|1),intron_variant(MODIFIER|||c.187-411G>A|238|MUC1|protein_coding|CODING|NM_001204289.1|2|1),intron_variant(MODIFIER|||c.124-411G>A|217|MUC1|protein_coding|CODING|NM_001204290.1|2|1),intron_variant(MODIFIER|||c.187-402G>A|241|MUC1|protein_coding|CODING|NM_001204291.1|2|1),intron_variant(MODIFIER|||c.160-253G>A|203|MUC1|protein_coding|CODING|NM_001044390.2|2|1),intron_variant(MODIFIER|||c.160-253G>A|158|MUC1|protein_coding|CODING|NM_001044393.2|2|1),intron_variant(MODIFIER|||c.187-253G>A|239|MUC1|protein_coding|CODING|NM_001204292.1|2|1),intron_variant(MODIFIER|||c.160-253G>A|230|MUC1|protein_coding|CODING|NM_001204294.1|2|1),intron_variant(MODIFIER|||c.187-253G>A|212|MUC1|protein_coding|CODING|NM_001204296.1|2|1),intron_variant(MODIFIER|||c.187-234G>A|264|MUC1|protein_coding|CODING|NM_001018016.2|2|1),intron_variant(MODIFIER|||c.160-234G>A|255|MUC1|protein_coding|CODING|NM_001018017.2|2|1),intron_variant(MODIFIER|||c.160-234G>A|150|MUC1|protein_coding|CODING|NM_001044391.2|2|1),intron_variant(MODIFIER|||c.187-234G>A|159|MUC1|protein_coding|CODING|NM_001044392.2|2|1),intron_variant(MODIFIER|||c.187-234G>A|219|MUC1|protein_coding|CODING|NM_001204288.1|2|1),intron_variant(MODIFIER|||c.187-234G>A|189|MUC1|protein_coding|CODING|NM_001204295.1|2|1),intron_variant(MODIFIER|||c.187-180G>A|282|MUC1|protein_coding|CODING|NM_001204287.1|2|1),intron_variant(MODIFIER|||c.160-180G>A|198|MUC1|protein_coding|CODING|NM_001204293.1|2|1),intron_variant(MODIFIER|||c.187-180G>A|177|MUC1|protein_coding|CODING|NM_001204297.1|2|1),intron_variant(MODIFIER|||c.160-180G>A|273|MUC1|protein_coding|CODING|NM_002456.5|2|1)","H1ESC:H3K36me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.002,0.0115,0.0159,,,,,0.437876(N),1.000(N),2.09(T),0.0077(T),0.049,-0.592661,3.11,-1.11,-1.094000,-0.532000,-2.294000,0.000000,0.000000,0.000000,9.8637
synonymous_variant,MUC1,SILENT,NM_001204286.1:p.Thr31Thr/c.93G>A,acG/acA,LOW,COSM3750408(1),0.628794,0.7619,rs4072037,,,,,,chr1,155162067,155162067,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|475|MUC1|protein_coding|CODING|NM_001204285.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|484|MUC1|protein_coding|CODING|NM_001204286.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|255|MUC1|protein_coding|CODING|NM_001018017.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|203|MUC1|protein_coding|CODING|NM_001044390.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|150|MUC1|protein_coding|CODING|NM_001044391.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|158|MUC1|protein_coding|CODING|NM_001044393.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|198|MUC1|protein_coding|CODING|NM_001204293.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|230|MUC1|protein_coding|CODING|NM_001204294.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|273|MUC1|protein_coding|CODING|NM_002456.5|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|264|MUC1|protein_coding|CODING|NM_001018016.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|159|MUC1|protein_coding|CODING|NM_001044392.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|282|MUC1|protein_coding|CODING|NM_001204287.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|219|MUC1|protein_coding|CODING|NM_001204288.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|238|MUC1|protein_coding|CODING|NM_001204289.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|241|MUC1|protein_coding|CODING|NM_001204291.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|239|MUC1|protein_coding|CODING|NM_001204292.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|189|MUC1|protein_coding|CODING|NM_001204295.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|212|MUC1|protein_coding|CODING|NM_001204296.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr31Thr/c.93G>A|177|MUC1|protein_coding|CODING|NM_001204297.1|2|1),intron_variant(MODIFIER|||c.59-29G>A|217|MUC1|protein_coding|CODING|NM_001204290.1|1|1)","H1ESC:H3K36me3,K562:H3K27ac,CD4:H4K91ac,H1ESC:H3K27me3,HeLa-S3:H3K27ac,HepG2:H3K27me3","Esophageal_cancer_and_gastric_cancer,Magnesium_levels",,,0.5481,0.7133,0.5477,0.57,0.64,0.54,,,,,,,,,,,,,,,,
missense_variant,MTX1,MISSENSE,NM_002455.4:p.Thr63Ser/c.187A>T,Act/Tct,MODERATE,COSM3749002(16),0.666733,0.7738,rs760077,1(T),"0.0,0.0(B,B)",-0.975(N),-1.0212(T),,chr1,155178782,155178782,A,T,het,"missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr63Ser/c.187A>T|466|MTX1|protein_coding|CODING|NM_002455.4|1|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr63Ser/c.187A>T|435|MTX1|protein_coding|CODING|NM_198883.3|1|1),upstream_gene_variant(MODIFIER||1010||947|THBS3|protein_coding|CODING|NM_001252607.1||1),upstream_gene_variant(MODIFIER||1010||836|THBS3|protein_coding|CODING|NM_001252608.1||1),upstream_gene_variant(MODIFIER||1010||956|THBS3|protein_coding|CODING|NM_007112.4||1),upstream_gene_variant(MODIFIER||1010|||THBS3||CODING|NR_045553.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,CD4:H2AK9ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.5982,0.7608,0.6054,0.63,0.68,0.61,,0.138831(N),1.000(P),"1.64,1.64(T,T)",0.0043(T),0.024,1.466570,4.25,-2.39,-0.257000,-0.656000,-0.293000,0.015000,0.000000,0.001000,0.3438
missense_variant,SCAMP3,MISSENSE,NM_005698.3:p.Ala337Ser/c.1009G>T,Gct/Tct,MODERATE,,,,,0.7(T),"0.002,0.134,0.063(B,B,B)",0.55(N),-1.0098(T),,chr1,155226099,155226099,C,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala337Ser/c.1009G>T|347|SCAMP3|protein_coding|CODING|NM_005698.3|9|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala311Ser/c.931G>T|321|SCAMP3|protein_coding|CODING|NM_052837.2|8|1),upstream_gene_variant(MODIFIER||825||650|FAM189B|protein_coding|CODING|NM_001267608.1||1),upstream_gene_variant(MODIFIER||825||668|FAM189B|protein_coding|CODING|NM_006589.2||1),upstream_gene_variant(MODIFIER||825||572|FAM189B|protein_coding|CODING|NM_198264.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000504(D),1.000(D),"2.46,2.25(T,T)",0.0098(T),0.247,0.090579,5.28,3.39,-0.181000,0.782000,0.910000,0.019000,0.686000,0.339000,12.3795
synonymous_variant,SCAMP3,SILENT,NM_005698.3:p.Gly126Gly/c.378G>A,ggG/ggA,LOW,COSM4142788(1),0.451877,0.6944,rs1142287,,,,,,chr1,155230131,155230131,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly126Gly/c.378G>A|347|SCAMP3|protein_coding|CODING|NM_005698.3|4|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly100Gly/c.300G>A|321|SCAMP3|protein_coding|CODING|NM_052837.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Crohn_s_disease,,,0.3558,0.3199,0.2753,0.35,0.54,0.26,,,,,,,,,,,,,,,,
synonymous_variant,PKLR,SILENT,NM_000298.5:p.Arg569Arg/c.1705C>A,Cgg/Agg,LOW,,0.438498,0.6895,rs1052176,,,,,,chr1,155260383,155260383,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg569Arg/c.1705C>A|574|PKLR|protein_coding|CODING|NM_000298.5|11|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg538Arg/c.1612C>A|543|PKLR|protein_coding|CODING|NM_181871.3|11|1),downstream_gene_variant(MODIFIER||1885|||HCN3||CODING|NR_073074.1||1),downstream_gene_variant(MODIFIER||744||774|HCN3|protein_coding|CODING|NM_020897.2||1)","HUVEC:H3K27me3,K562:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3548,0.3271,0.2803,0.34,0.49,0.27,,,,,,,,,,,,,,,,
synonymous_variant,RUSC1,SILENT,NM_001105205.1:p.Leu22Leu/c.66A>G,ctA/ctG,LOW,COSM4142793(2),0.948283,1,rs914616,,,,,,chr1,155294274,155294274,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu22Leu/c.66A>G|492|RUSC1|protein_coding|CODING|NM_001105205.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||400|RUSC1|protein_coding|CODING|NM_001278227.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||427|RUSC1|protein_coding|CODING|NM_001278228.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||327|RUSC1|protein_coding|CODING|NM_001278229.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||433|RUSC1|protein_coding|CODING|NM_014328.4|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||433|RUSC1|protein_coding|CODING|NM_001278230.1|1|1),5_prime_UTR_variant(MODIFIER||412|c.-155A>G|400|RUSC1|protein_coding|CODING|NM_001278227.1|1|1),5_prime_UTR_variant(MODIFIER||725|c.-310A>G|427|RUSC1|protein_coding|CODING|NM_001278228.1|1|1),5_prime_UTR_variant(MODIFIER||412|c.-155A>G|327|RUSC1|protein_coding|CODING|NM_001278229.1|1|1),5_prime_UTR_variant(MODIFIER||412|c.-155A>G|433|RUSC1|protein_coding|CODING|NM_014328.4|1|1),5_prime_UTR_variant(MODIFIER||412|c.-412A>G|433|RUSC1|protein_coding|CODING|NM_001278230.1|1|1),upstream_gene_variant(MODIFIER||336||236|RUSC1-AS1|protein_coding|CODING|NM_001039517.1||1),intron_variant(MODIFIER|||c.1358-362A>G|902|RUSC1|protein_coding|CODING|NM_001105203.1|2|1),intron_variant(MODIFIER|||c.1358-362A>G|796|RUSC1|protein_coding|CODING|NM_001105204.1|2|1),non_coding_exon_variant(MODIFIER|||n.89A>G||RUSC1||CODING|NR_103478.1|1|1)","NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,GM12878:USF1,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:ATF3,HUVEC:H3K9ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ATF3,HepG2:USF1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:PolII,GM12878:Cfos,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9827,1,0.96,0.86,1.00,,,,,,,,,,,,,,,,
missense_variant,ASH1L,MISSENSE,NM_018489.2:p.Thr1771Ala/c.5311A>G,Aca/Gca,MODERATE,,0.948682,1,rs4971053,0.09(T),"0.0,0.0(B,B)",0.345(N),-0.8754(T),,chr1,155408635,155408635,T,C,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr1771Ala/c.5311A>G|2964|ASH1L|protein_coding|CODING|NM_018489.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9827,1,0.95,0.86,1.00,,0.000065(N),0.000(P),"-2.27,-2.27(D,D)",0.2167(T),0.017,1.328107,5.23,4.31,-0.762000,0.809000,2.263000,0.596000,0.980000,0.991000,5.8564
synonymous_variant,YY1AP1,SILENT,NM_001198903.1:p.Glu57Glu/c.171A>G,gaA/gaG,LOW,COSM1472725(4),0.53155,0.6855,rs2666826,,,,,,chr1,155658085,155658085,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu57Glu/c.171A>G|888|YY1AP1|protein_coding|CODING|NM_001198903.1|1|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu57Glu/c.171A>G|868|YY1AP1|protein_coding|CODING|NM_001198904.1|1|1),upstream_gene_variant(MODIFIER||797||398|DAP3|protein_coding|CODING|NM_001199849.1||1),upstream_gene_variant(MODIFIER||797||364|DAP3|protein_coding|CODING|NM_001199850.1||1),upstream_gene_variant(MODIFIER||797||357|DAP3|protein_coding|CODING|NM_001199851.1||1),upstream_gene_variant(MODIFIER||800||398|DAP3|protein_coding|CODING|NM_004632.3||1),upstream_gene_variant(MODIFIER||800||398|DAP3|protein_coding|CODING|NM_033657.2||1),intron_variant(MODIFIER|||c.-21+365A>G|750|YY1AP1|protein_coding|CODING|NM_001198902.1|1|1),intron_variant(MODIFIER|||c.-21+636A>G|750|YY1AP1|protein_coding|CODING|NM_001198901.1|1|1),intron_variant(MODIFIER|||c.-375+636A>G|684|YY1AP1|protein_coding|CODING|NM_139121.2|1|1),intron_variant(MODIFIER|||c.-143-93A>G|739|YY1AP1|protein_coding|CODING|NM_001198900.1|1|1),intron_variant(MODIFIER|||c.-151-93A>G|730|YY1AP1|protein_coding|CODING|NM_001198905.1|1|1),intron_variant(MODIFIER|||c.-265-93A>G|739|YY1AP1|protein_coding|CODING|NM_018253.3|1|1),intron_variant(MODIFIER|||c.-151-93A>G|750|YY1AP1|protein_coding|CODING|NM_139119.2|1|1),intron_variant(MODIFIER|||c.48-93A>G|424|YY1AP1|protein_coding|CODING|NM_001198906.1|1|1),intron_variant(MODIFIER|||c.48-93A>G|796|YY1AP1|protein_coding|CODING|NM_139118.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.365,0.3631,0.2972,,,,,,,,,,,,,,,,,,,
missense_variant,GON4L,MISSENSE,NM_001282856.1:p.Met1418Val/c.4252A>G,Atg/Gtg,MODERATE,,0.354233,0.6865,rs2297775,0.32(T),"0.0,0.0,0.001(B,B,B)",0.895(L),-0.9732(T),,chr1,155735012,155735012,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1418Val/c.4252A>G|1529|GON4L|protein_coding|CODING|NM_001282861.1|21|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1418Val/c.4252A>G|1529|GON4L|protein_coding|CODING|NM_032292.5|21|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1418Val/c.4252A>G|2241|GON4L|protein_coding|CODING|NM_001282856.1|21|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1418Val/c.4252A>G|2240|GON4L|protein_coding|CODING|NM_001282858.1|21|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1418Val/c.4252A>G|2241|GON4L|protein_coding|CODING|NM_001282860.1|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3241,0.3256,0.2972,0.27,0.21,0.30,,0.357025(N),1.000(P),"3.05,3.05,3.05,2.84(T,T,T,T)",0.0088(T),0.014,0.549433,5.04,-4.4,0.529000,-1.090000,-0.619000,0.031000,0.000000,0.000000,16.1992
missense_variant,SYT11,MISSENSE,NM_152280.4:p.Gln48His/c.144G>C,caG/caC,MODERATE,,0.954673,1,rs822522,0.64(T),0.0(B),-0.345(N),-0.9777(T),,chr1,155837865,155837865,G,C,hom,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln48His/c.144G>C|431|SYT11|protein_coding|CODING|NM_152280.4|2|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9827,1,0.95,0.87,1.00,,0.000152(N),0.000(P),0.91(T),0.0147(T),0.072,0.042072,5.52,3.65,-1.721000,0.316000,1.147000,0.830000,0.997000,0.994000,7.439
synonymous_variant,SYT11,SILENT,NM_152280.4:p.His182His/c.546T>C,caT/caC,LOW,,0.93111,1,rs386497363,,,,,,chr1,155838267,155838267,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His182His/c.546T>C|431|SYT11|protein_coding|CODING|NM_152280.4|2|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9856,1,0.93,0.78,1.00,,,,,,,,,,,,,,,,
missense_variant,RIT1,MISSENSE,NM_001256821.1:p.Glu11Gln/c.31G>C,Gag/Cag,MODERATE,,0.779952,0.9405,rs493446,0.49(T),,,-1.0650(T),,chr1,155880573,155880573,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu11Gln/c.31G>C|236|RIT1|protein_coding|CODING|NM_001256821.1|2|1),5_prime_UTR_variant(MODIFIER||21|c.-21G>C|219|RIT1|protein_coding|CODING|NM_006912.5|2|1),intron_variant(MODIFIER|||c.-2-276G>C|183|RIT1|protein_coding|CODING|NM_001256820.1|1|1)","CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.8763,0.9078,0.8926,0.80,0.55,0.92,,,0.997(P),-0.21(T),0.0778(T),0.022,-1.365295,2.74,-0.379,-1.836000,-0.357000,1.320000,0.000000,0.001000,0.139000,7.4637
missense_variant,RXFP4,MISSENSE,NM_181885.2:p.Leu329Ser/c.986T>C,tTg/tCg,MODERATE,,0.924121,0.999,rs2152051,0.95(T),0.0(B),-0.345(N),-0.9433(T),,chr1,155912486,155912486,T,C,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu329Ser/c.986T>C|374|RXFP4|protein_coding|CODING|NM_181885.2|1|1),"K562:PolII,IMR90:DNase1,HeLa-S3:Ap2alpha,GM12878:PolII,HeLa-S3:Ap2gamma,HMEC:H3K4me1,NHEK:DNase1",,,,0.9796,0.9813,1,0.94,0.82,1.00,,0.512802(N),1.000(P),1.25(T),0.0095(T),0.089,0.988773,4.9,1.86,-0.119000,0.260000,-0.036000,0.524000,0.000000,0.000000,4.6142
missense_variant,UBQLN4,MISSENSE,NM_020131.3:p.Ile495Met/c.1485A>G,atA/atG,MODERATE,,0.433107,0.1438,rs2297792,0.28(T),"0.004,0.002(B,B)",0.345(N),-1.0259(T),,chr1,156011444,156011444,T,C,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile495Met/c.1485A>G|601|UBQLN4|protein_coding|CODING|NM_020131.3|10|1),intron_variant(MODIFIER|||n.55+2515A>G||MIR7851||NON_CODING|NR_107005.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5521,0.5461,0.6014,0.55,0.44,0.61,,0.070344(N),1.000(P),0.53(T),0.0215(T),0.034,1.342255,4.62,2.56,-0.119000,0.568000,0.417000,0.930000,0.988000,0.924000,4.3603
synonymous_variant,UBQLN4,SILENT,NM_020131.3:p.Ser100Ser/c.300C>T,tcC/tcT,LOW,,0.0135783,0,rs41265007,,,,,,chr1,156021079,156021079,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser100Ser/c.300C>T|601|UBQLN4|protein_coding|CODING|NM_020131.3|3|1),intron_variant(MODIFIER|||n.44-7109C>T||MIR7851||NON_CODING|NR_107005.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0245,0.0477,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,SEMA4A,SILENT,NM_001193300.1:p.Pro572Pro/c.1716C>T,ccC/ccT,LOW,,0.430911,0.2321,rs12401573,,,,,,chr1,156146218,156146218,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro572Pro/c.1716C>T|761|SEMA4A|protein_coding|CODING|NM_001193300.1|15|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro572Pro/c.1716C>T|761|SEMA4A|protein_coding|CODING|NM_001193301.1|15|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro440Pro/c.1320C>T|629|SEMA4A|protein_coding|CODING|NM_001193302.1|13|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro572Pro/c.1716C>T|761|SEMA4A|protein_coding|CODING|NM_022367.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.4407,0.5231,0.6044,0.53,0.42,0.59,,,,,,,,,,,,,,,,
missense_variant,PMF1-BGLAP,MISSENSE,NM_001199661.1:p.Gln75Arg/c.224A>G,cAa/cGa,MODERATE,COSM4142815(1),0.447284,0.3313,rs1052053,1(T),"0.0,0.0,0.0(B,B,B)",-1.5(N),-0.9419(T),,chr1,156202173,156202173,A,G,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln75Arg/c.224A>G|180|PMF1|protein_coding|CODING|NM_001199653.1|2|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln75Arg/c.224A>G|220|PMF1-BGLAP|protein_coding|CODING|NM_001199661.1|2|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln75Arg/c.224A>G|211|PMF1-BGLAP|protein_coding|CODING|NM_001199662.1|2|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln75Arg/c.224A>G|175|PMF1-BGLAP|protein_coding|CODING|NM_001199663.1|2|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln75Arg/c.224A>G|205|PMF1|protein_coding|CODING|NM_007221.3|2|1),intron_variant(MODIFIER|||c.162-3906A>G|142|PMF1-BGLAP|protein_coding|CODING|NM_001199664.1|1|1),intron_variant(MODIFIER|||c.274-1246A>G|207|PMF1|protein_coding|CODING|NM_001199654.1|2|1)","K562:Nfe2,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.3528,0.366,0.3708,0.47,0.67,0.36,,0.030393(N),1.000(P),"1.61,1.61,1.61,1.61(T,T,T,T)",0.0059(T),0.103,-1.191101,5.68,4.69,-0.119000,1.429000,2.569000,0.444000,0.027000,0.576000,8.2179
missense_variant,PMF1-BGLAP,MISSENSE,NM_001199662.1:p.Met137Ile/c.411G>A,atG/atA,MODERATE,COSM424117(1),0.19369,0.2073,rs1052067,0.08(T),0.127(B),1.265(L),-1.0852(T),,chr1,156206121,156206121,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met139Ile/c.417G>A|207|PMF1|protein_coding|CODING|NM_001199654.1|4|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met137Ile/c.411G>A|211|PMF1-BGLAP|protein_coding|CODING|NM_001199662.1|4|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met68Ile/c.204G>A|142|PMF1-BGLAP|protein_coding|CODING|NM_001199664.1|2|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met137Ile/c.411G>A|205|PMF1|protein_coding|CODING|NM_007221.3|4|1),intron_variant(MODIFIER|||c.369-19G>A|180|PMF1|protein_coding|CODING|NM_001199653.1|3|1),intron_variant(MODIFIER|||c.369-19G>A|220|PMF1-BGLAP|protein_coding|CODING|NM_001199661.1|3|1),intron_variant(MODIFIER|||c.368+2602G>A|175|PMF1-BGLAP|protein_coding|CODING|NM_001199663.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1851,0.219,0.2773,0.24,0.16,0.27,,,0.000(P),"1.7,1.7(T,T)",0.0271(T),0.085,1.999039,5.81,3.93,-0.182000,0.802000,2.057000,0.383000,0.831000,0.997000,10.624
missense_variant,CCT3,MISSENSE,NM_005998.4:p.Ile195Val/c.583A>G,Ata/Gta,MODERATE,,0.0207668,0.002,rs11548200,0.13(T),"0.019,0.997,0.111(B,D,B)",1.57(L),-0.0986(T),,chr1,156290656,156290656,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile157Val/c.469A>G|507|CCT3|protein_coding|CODING|NM_001008800.2|5|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile195Val/c.583A>G|545|CCT3|protein_coding|CODING|NM_005998.4|7|1),non_coding_exon_variant(MODIFIER|||n.976A>G||CCT3||CODING|NR_036564.1|8|1),non_coding_exon_variant(MODIFIER|||n.927A>G||CCT3||CODING|NR_036565.1|8|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0184,0.0403,0.0537,0.04,0.01,0.06,,0.000000(D),1.000(D),"-1.04,-1.04,-1.04,-1.04,-1.04,-1.04,-1.04,0.4(T,T,T,T,T,T,T,T)",0.4642(T),0.161,4.250744,5.94,5.94,0.519000,2.274000,7.697000,0.881000,1.000000,1.000000,12.7903
missense_variant,RHBG,MISSENSE,NM_020407.4:p.Gly76Asp/c.227G>A,gGc/gAc,MODERATE,COSM4142823(2),0.270567,0.1012,rs2245623,0(D),"1.0,1.0,1.0(D,D,D)",3.555(H),0.7046(D),,chr1,156347131,156347131,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly7Asp/c.20G>A|389|RHBG|protein_coding|CODING|NM_001256395.1|3|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly46Asp/c.137G>A|428|RHBG|protein_coding|CODING|NM_001256396.1|3|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly76Asp/c.227G>A|458|RHBG|protein_coding|CODING|NM_020407.4|2|1),non_coding_exon_variant(MODIFIER|||n.411G>A||RHBG||CODING|NR_046115.1|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,HepG2:PolII,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3528,0.2781,0.4563,0.37,0.23,0.45,,0.000000(D),0.000(P),"-1.51,-1.51,-1.51,-1.51,-1.51(D,D,D,D,D)",0.7389(D),0.81,5.389342,4.86,4.86,0.561000,2.512000,9.395000,0.981000,1.000000,1.000000,16.7188
missense_variant,RHBG,MISSENSE,NM_020407.4:p.Gly315Arg/c.943G>A,Ggg/Agg,MODERATE,COSM4142833(1),0.544728,0.7014,rs3748569,0.01(D),"0.986,0.998,1.0,0.999(D,D,D,D)",3.455(M),-0.2511(T),,chr1,156351699,156351699,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly246Arg/c.736G>A|389|RHBG|protein_coding|CODING|NM_001256395.1|7|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly285Arg/c.853G>A|428|RHBG|protein_coding|CODING|NM_001256396.1|7|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly315Arg/c.943G>A|458|RHBG|protein_coding|CODING|NM_020407.4|6|1),non_coding_exon_variant(MODIFIER|||n.1141G>A||RHBG||CODING|NR_046115.1|7|1)","HepG2:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4438,0.6037,0.4095,0.46,0.53,0.43,,0.000000(D),0.000(P),"1.12,1.12,1.12,1.12,1.12(T,T,T,T,T)",0.2881(T),0.829,4.744673,4.44,4.44,0.561000,2.286000,7.438000,0.996000,0.957000,1.000000,14.5902
missense_variant,RHBG,MISSENSE,NM_020407.4:p.His428Arg/c.1283A>G,cAc/cGc,MODERATE,COSM3750423(2),0.733027,0.8978,rs6668857,0(D),,,-1.0756(T),,chr1,156354367,156354367,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His359Arg/c.1076A>G|389|RHBG|protein_coding|CODING|NM_001256395.1|11|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His398Arg/c.1193A>G|428|RHBG|protein_coding|CODING|NM_001256396.1|11|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His428Arg/c.1283A>G|458|RHBG|protein_coding|CODING|NM_020407.4|10|1),non_coding_exon_variant(MODIFIER|||n.1482A>G||RHBG||CODING|NR_046115.1|10|1)","H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6135,0.6686,0.5149,0.63,0.85,0.53,,,0.000(P),2.23(T),0.0483(T),0.18,3.362164,5.94,5.94,-0.215000,1.545000,4.067000,0.923000,0.997000,1.000000,11.3531
synonymous_variant,MEF2D,SILENT,NM_005920.3:p.Pro101Pro/c.303C>T,ccC/ccT,LOW,COSM3750426(2),0.232628,0.245,rs1185700,,,,,,chr1,156450719,156450719,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro101Pro/c.303C>T|514|MEF2D|protein_coding|CODING|NM_001271629.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro101Pro/c.303C>T|521|MEF2D|protein_coding|CODING|NM_005920.3|4|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,GM12878:H3K27ac,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,H1ESC:Yy1,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.2372,0.2983,0.2386,0.22,0.21,0.23,,,,,,,,,,,,,,,,
synonymous_variant,IQGAP3,SILENT,NM_178229.4:p.Leu1444Leu/c.4332A>G,ctA/ctG,LOW,COSM424125(2),0.605631,0.6022,rs1171566,,,,,,chr1,156499969,156499969,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1444Leu/c.4332A>G|1631|IQGAP3|protein_coding|CODING|NM_178229.4|34|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6851,0.4424,0.33,0.46,0.73,0.33,,,,,,,,,,,,,,,,
missense_variant,IQGAP3,MISSENSE,NM_178229.4:p.Arg663Cys/c.1987C>T,Cgt/Tgt,MODERATE,COSM3750427(1),0.407149,0.5724,rs744224,0.1(T),0.0(B),0.895(L),-0.9472(T),,chr1,156518379,156518379,G,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg663Cys/c.1987C>T|1631|IQGAP3|protein_coding|CODING|NM_178229.4|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.3646,0.2575,0.28,0.30,0.28,,0.677301(N),1.000(P),3.25(T),0.0075(T),0.062,-0.007916,4.85,1.89,-0.258000,0.108000,-0.029000,0.044000,0.000000,0.000000,9.5002
missense_variant,IQGAP3,MISSENSE,NM_178229.4:p.Val410Leu/c.1228G>C,Gtg/Ctg,MODERATE,,0.378195,0.4286,rs11264498,0.01(D),0.97(D),1.805(L),-1.1484(T),,chr1,156526387,156526387,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val410Leu/c.1228G>C|1631|IQGAP3|protein_coding|CODING|NM_178229.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2679,0.5519,0.6272,0.50,0.24,0.64,,0.000001(D),0.000(P),2.62(T),0.0661(T),0.326,4.361937,5.54,5.54,0.491000,2.589000,5.769000,0.445000,0.988000,1.000000,18.0563
missense_variant,IQGAP3,MISSENSE,NM_178229.4:p.Arg391Gly/c.1171A>G,Aga/Gga,MODERATE,,0.960064,1,rs2488269,1(T),0.0(B),-2.015(N),-0.9355(T),,chr1,156526444,156526444,T,C,hom,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg391Gly/c.1171A>G|1631|IQGAP3|protein_coding|CODING|NM_178229.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.96,0.88,1.00,,0.000464(N),0.945(P),3.66(T),0.0012(T),0.257,0.219828,5.54,5.54,-0.320000,1.344000,5.777000,0.190000,0.989000,1.000000,13.3831
synonymous_variant,IQGAP3,SILENT,NM_178229.4:p.Gln249Gln/c.747A>G,caA/caG,LOW,,0.959864,1,rs1171547,,,,,,chr1,156532977,156532977,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln249Gln/c.747A>G|1631|IQGAP3|protein_coding|CODING|NM_178229.4|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,IQGAP3,SILENT,NM_178229.4:p.Pro81Pro/c.243C>G,ccC/ccG,LOW,,0.959864,1,rs2066377,,,,,,chr1,156536221,156536221,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro81Pro/c.243C>G|1631|IQGAP3|protein_coding|CODING|NM_178229.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,IQGAP3,SILENT,NM_178229.4:p.Leu71Leu/c.213A>G,ctA/ctG,LOW,,0.959864,1,rs947662,,,,,,chr1,156536251,156536251,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu71Leu/c.213A>G|1631|IQGAP3|protein_coding|CODING|NM_178229.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,TTC24,MISSENSE,NM_001105669.2:p.Glu231Gly/c.692A>G,gAg/gGg,MODERATE,COSM424131(1),0.35004,0.2877,rs6682716,,,0.345(N),-1.0789(T),,chr1,156551848,156551848,A,G,hom,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu231Gly/c.692A>G|582|TTC24|protein_coding|CODING|NM_001105669.2|2|1),"CD4:H2AZ,HSMM:H2AZ,CD4:DNase1,CD4:H4K8ac,HSMM:H3K9ac,GM12878:PolII,CD4:H4K5ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3395,0.4553,0.7018,0.56,0.19,0.72,,0.221131(N),1.000(P),"-0.99,-0.99(T,T)",0.0414(T),0.198,2.213651,4.58,3.41,0.374000,1.933000,2.290000,0.077000,0.019000,0.024000,9.4528
synonymous_variant,TTC24,SILENT,NM_001105669.2:p.Ser576Ser/c.1728G>A,tcG/tcA,LOW,,0.767971,0.9692,rs10796961,,,,-0.9891(T),,chr1,156556321,156556321,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser576Ser/c.1728G>A|582|TTC24|protein_coding|CODING|NM_001105669.2|11|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9192,0.9063,0.9573,0.80,0.45,0.97,,,0.000(P),,0.0142(T),.,0.128799,5.03,-4.94,-2.579000,-0.811000,-0.233000,0.000000,0.619000,0.979000,1.0591
missense_variant,APOA1BP,MISSENSE,NM_144772.2:p.Val19Leu/c.55G>C,Gtg/Ctg,MODERATE,COSM3750429(5),0.928714,0.9722,rs7516274,1(T),"0.0,0.0,0.0(B,B,B)",-1.1(N),-0.9438(T),,chr1,156561651,156561651,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val19Leu/c.55G>C|288|APOA1BP|protein_coding|CODING|NM_144772.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.9202,0.9568,0.9592,0.95,0.89,0.98,,0.083830(N),1.000(P),"0.93,1.61,1.6(T,T,T)",0.0087(T),0.016,-0.812431,4.09,1.94,-0.215000,0.354000,0.968000,0.022000,0.636000,0.257000,5.9438
synonymous_variant,APOA1BP,SILENT,NM_144772.2:p.Ile239Ile/c.717A>C,atA/atC,LOW,,0.928514,0.9722,rs6427322,0.64(T),0.0(B),,-1.0055(T),,chr1,156563726,156563726,A,C,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile239Ile/c.717A>C|288|APOA1BP|protein_coding|CODING|NM_144772.2|6|1),downstream_gene_variant(MODIFIER||374||375|GPATCH4|protein_coding|CODING|NM_015590.3||1),downstream_gene_variant(MODIFIER||374||370|GPATCH4|protein_coding|CODING|NM_182679.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9192,0.9568,0.9592,0.93,0.86,0.97,,0.000005(D),0.000(P),0.73(T),0.0218(T),.,-0.161431,4.86,2.99,-0.969000,0.129000,2.202000,0.685000,0.999000,1.000000,4.4246
synonymous_variant,APOA1BP,SILENT,NM_144772.2:p.Glu268Glu/c.804G>A,gaG/gaA,LOW,,0.928514,0.9722,rs386604248,0.03(D),0.0(B),,-1.0941(T),,chr1,156563813,156563813,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu268Glu/c.804G>A|288|APOA1BP|protein_coding|CODING|NM_144772.2|6|1),downstream_gene_variant(MODIFIER||287||375|GPATCH4|protein_coding|CODING|NM_015590.3||1),downstream_gene_variant(MODIFIER||287||370|GPATCH4|protein_coding|CODING|NM_182679.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9192,0.9568,0.9592,0.93,0.86,0.97,,0.000000(D),0.000(P),0.59(T),0.0445(T),.,1.009808,5.29,1.31,-0.360000,0.301000,3.209000,0.993000,1.000000,1.000000,4.4958
synonymous_variant,APOA1BP,SILENT,NM_144772.2:p.Thr281Thr/c.843C>T,acC/acT,LOW,,0.928514,0.9722,rs942963,,,,,,chr1,156563852,156563852,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr281Thr/c.843C>T|288|APOA1BP|protein_coding|CODING|NM_144772.2|6|1),downstream_gene_variant(MODIFIER||248||375|GPATCH4|protein_coding|CODING|NM_015590.3||1),downstream_gene_variant(MODIFIER||248||370|GPATCH4|protein_coding|CODING|NM_182679.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9192,0.9568,0.9592,0.93,0.86,0.97,,,,,,,,,,,,,,,,
missense_variant,BCAN,MISSENSE,NM_021948.4:p.Arg105Gly/c.313C>G,Cgg/Ggg,MODERATE,,0.00559105,0,rs115373136,0(D),"0.951,0.285(D,B)",1.685(L),-0.4895(T),,chr1,156616814,156616814,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg105Gly/c.313C>G|911|BCAN|protein_coding|CODING|NM_021948.4|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg105Gly/c.313C>G|671|BCAN|protein_coding|CODING|NM_198427.1|3|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0043,0.0199,0.01,0.00,0.01,,0.000061(D),0.866(D),"-0.14,-0.14,-0.14,-0.14(T,T,T,T)",0.2580(T),0.377,2.664022,4.61,2.47,0.455000,1.088000,-0.350000,0.530000,1.000000,0.000000,12.8011
synonymous_variant,NES,SILENT,NM_006617.1:p.Ala1448Ala/c.4344C>T,gcC/gcT,LOW,COSM1127348(1),0.224042,0.2946,rs11549292,,,,,,chr1,156639636,156639636,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1448Ala/c.4344C>T|1621|NES|protein_coding|CODING|NM_006617.1|4|1),"H1ESC:PolII,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:Znf263,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.2996,0.2882,0.3032,0.21,0.07,0.28,,,,,,,,,,,,,,,,
synonymous_variant,NES,SILENT,NM_006617.1:p.Ser1409Ser/c.4227C>T,tcC/tcT,LOW,,0.618411,0.8611,rs11582300,,,,,,chr1,156639753,156639753,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1409Ser/c.4227C>T|1621|NES|protein_coding|CODING|NM_006617.1|4|1),"H1ESC:PolII,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:Znf263,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.6278,0.6787,0.6312,0.54,0.40,0.62,,,,,,,,,,,,,,,,
missense_variant,NES,MISSENSE,NM_006617.1:p.Pro1275Leu/c.3824C>T,cCc/cTc,MODERATE,,0.724441,0.87,rs3748570,1(T),0.0(B),-2.005(N),-1.0276(T),,chr1,156640156,156640156,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1275Leu/c.3824C>T|1621|NES|protein_coding|CODING|NM_006617.1|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,K562:Znf263,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.6738,0.7104,0.6551,0.66,0.69,0.64,,0.012416(N),1.000(P),-1.7(D),0.0435(T),0.083,-1.373560,4.95,4.95,-0.381000,0.732000,0.911000,0.334000,0.999000,0.964000,4.6302
synonymous_variant,NES,SILENT,NM_006617.1:p.Thr1224Thr/c.3672G>A,acG/acA,LOW,COSM1559925(4),0.224241,0.2946,rs3748571,,,,,,chr1,156640308,156640308,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1224Thr/c.3672G>A|1621|NES|protein_coding|CODING|NM_006617.1|4|1),"H1ESC:PolII,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3067,0.2882,0.3032,0.21,0.06,0.29,,,,,,,,,,,,,,,,
synonymous_variant,NES,SILENT,NM_006617.1:p.Gly1159Gly/c.3477G>A,ggG/ggA,LOW,COSM3750432(3),0.223842,0.2946,rs3828043,,,,,,chr1,156640503,156640503,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1159Gly/c.3477G>A|1621|NES|protein_coding|CODING|NM_006617.1|4|1),"H1ESC:PolII,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3067,0.2867,0.3022,0.21,0.06,0.29,,,,,,,,,,,,,,,,
missense_variant,NES,MISSENSE,NM_006617.1:p.Pro1101Leu/c.3302C>T,cCg/cTg,MODERATE,COSM424142(2),0.622204,0.8621,rs2886443,0.85(T),0.0(B),1.78(L),-0.9889(T),,chr1,156640678,156640678,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1101Leu/c.3302C>T|1621|NES|protein_coding|CODING|NM_006617.1|4|1),"H1ESC:PolII,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.6339,0.67,0.6481,0.56,0.41,0.64,,0.627213(N),1.000(P),-1.91(D),0.1912(T),0.048,0.495244,4.16,-4.17,-1.141000,-0.966000,-3.984000,0.000000,0.000000,0.000000,4.0525
missense_variant,NES,MISSENSE,NM_006617.1:p.Val815Ile/c.2443G>A,Gta/Ata,MODERATE,COSM146641(1),0.204273,0.12,rs951781,0.18(T),0.001(B),1.175(L),-0.8602(T),,chr1,156641537,156641537,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val815Ile/c.2443G>A|1621|NES|protein_coding|CODING|NM_006617.1|4|1),"H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3252,0.2738,0.3439,0.27,0.09,0.35,,0.392662(N),1.000(P),-1.96(D),0.2161(T),0.007,1.624057,5.4,-4.93,-0.251000,-0.441000,-1.666000,0.048000,0.000000,0.000000,7.4335
missense_variant,NES,MISSENSE,NM_006617.1:p.Val130Ala/c.389T>C,gTg/gCg,MODERATE,COSM3750433(4),0.998403,1,rs4278369,0.86(T),0.0(B),0.49(N),-1.0654(T),,chr1,156646668,156646668,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val130Ala/c.389T>C|1621|NES|protein_coding|CODING|NM_006617.1|1|1),"H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HSMM:H3K9ac,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,1,1,1,1.00,0.99,1.00,,,1.000(P),-2.53(D),0.1969(T),0.061,-1.875936,4.29,1.39,-0.374000,-0.115000,0.380000,0.018000,0.063000,0.166000,7.7505
missense_variant,RRNAD1,MISSENSE,NM_015997.3:p.Val400Leu/c.1198G>C,Gtg/Ctg,MODERATE,,0.971046,1,rs4311877,0.21(T),0.0(B),-1.56(N),-0.9475(T),,chr1,156705593,156705593,G,C,hom,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg238Pro/c.713G>C|277|RRNAD1|protein_coding|CODING|NM_001142560.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val400Leu/c.1198G>C|475|RRNAD1|protein_coding|CODING|NM_015997.3|7|1),downstream_gene_variant(MODIFIER||1501||216|MRPL24|protein_coding|CODING|NM_024540.3||1),downstream_gene_variant(MODIFIER||1501||216|MRPL24|protein_coding|CODING|NM_145729.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.92,1.00,,,0.000(P),,0.0093(T),.,1.437195,4.93,1.63,-0.120000,0.250000,1.149000,0.978000,0.998000,1.000000,11.4494
synonymous_variant,HDGF,SILENT,NM_001126050.1:p.Glu232Glu/c.696G>A,gaG/gaA,LOW,,0.962061,1,rs4437869,,,,,,chr1,156713512,156713512,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu232Glu/c.696G>A|256|HDGF|protein_coding|CODING|NM_001126050.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu209Glu/c.627G>A|233|HDGF|protein_coding|CODING|NM_001126051.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu216Glu/c.648G>A|240|HDGF|protein_coding|CODING|NM_004494.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.97,0.90,1.00,,,,,,,,,,,,,,,,
missense_variant,HDGF,MISSENSE,NM_001126050.1:p.Pro217Leu/c.650C>T,cCc/cTc,MODERATE,COSM3750438(1),0.192093,0.125,rs4399146,0.07(T),"0.001,0.001,0.0,0.001(B,B,B,B)",1.59(L),-1.0400(T),,chr1,156713558,156713558,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro217Leu/c.650C>T|256|HDGF|protein_coding|CODING|NM_001126050.1|5|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro194Leu/c.581C>T|233|HDGF|protein_coding|CODING|NM_001126051.1|5|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro201Leu/c.602C>T|240|HDGF|protein_coding|CODING|NM_004494.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2638,0.2219,0.334,0.27,0.11,0.34,,0.924918(U),0.391(P),"1.67,1.15,1.67,1.22,1.08(T,T,T,T,T)",0.0421(T),0.04,1.385885,4.67,1.7,-0.366000,0.192000,0.827000,0.759000,0.985000,0.750000,6.7766
missense_variant,SH2D2A,MISSENSE,NM_001161441.1:p.Asn52Ser/c.155A>G,aAc/aGc,MODERATE,COSM424151(1),0.59365,0.8155,rs926103,0.92(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0425(T),,chr1,156784982,156784982,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn52Ser/c.155A>G|399|SH2D2A|protein_coding|CODING|NM_001161441.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn34Ser/c.101A>G|371|SH2D2A|protein_coding|CODING|NM_001161442.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn24Ser/c.71A>G|361|SH2D2A|protein_coding|CODING|NM_001161443.1|2|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn52Ser/c.155A>G|389|SH2D2A|protein_coding|CODING|NM_001161444.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn52Ser/c.155A>G|389|SH2D2A|protein_coding|CODING|NM_003975.3|3|1),upstream_gene_variant(MODIFIER||560||760|NTRK1|protein_coding|CODING|NM_001007792.1||1)","CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K27me3,HUVEC:DNase1,CD4:H3K4ac,IMR90:H3K27me3,HUVEC:H3K4me1,HUVEC:H3K27ac,CD4:H2BK120ac,HepG2:H3K27me3,NHEK:DNase1,CD4:H2BK12ac",,,,0.6401,0.6297,0.662,0.55,0.38,0.64,,0.001137(N),1.000(P),"0.59,0.55,1.01(T,T,T)",0.0137(T),0.001,-1.101109,4.94,-9.87,-1.847000,-2.789000,-1.442000,0.000000,0.000000,0.000000,0.9938
synonymous_variant,NTRK1,SILENT,NM_002529.3:p.Gln558Gln/c.1674G>A,caG/caA,LOW,COSM3750439(1),0.212859,0.3204,rs6334,,,,,,chr1,156846233,156846233,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln522Gln/c.1566G>A|760|NTRK1|protein_coding|CODING|NM_001007792.1|14|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln552Gln/c.1656G>A|790|NTRK1|protein_coding|CODING|NM_001012331.1|13|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln558Gln/c.1674G>A|796|NTRK1|protein_coding|CODING|NM_002529.3|14|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.2464,0.2205,0.1968,0.19,0.14,0.22,,,,,,,,,,,,,,,,
synonymous_variant,NTRK1,SILENT,NM_002529.3:p.Ala629Ala/c.1887C>T,gcC/gcT,LOW,COSM4142850(2),0.334065,0.0437,rs6337,,,,,,chr1,156848995,156848995,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala593Ala/c.1779C>T|760|NTRK1|protein_coding|CODING|NM_001007792.1|15|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala623Ala/c.1869C>T|790|NTRK1|protein_coding|CODING|NM_001012331.1|14|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala629Ala/c.1887C>T|796|NTRK1|protein_coding|CODING|NM_002529.3|15|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3384,0.5735,0.7127,0.56,0.23,0.73,,,,,,,,,,,,,,,,
synonymous_variant,PEAR1,SILENT,NM_001080471.1:p.Pro3Pro/c.9G>A,ccG/ccA,LOW,,0.194489,0.3442,rs12407843,,,,,,chr1,156873727,156873727,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro3Pro/c.9G>A|1037|PEAR1|protein_coding|CODING|NM_001080471.1|2|1),"GM06990:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.2229,0.1499,0.1113,0.12,0.14,0.11,,,,,,,,,,,,,,,,
missense_variant,PEAR1,MISSENSE,NM_001080471.1:p.Ser234Pro/c.700T>C,Tct/Cct,MODERATE,,0.975839,1,rs1952294,1(T),0.0(B),-1.955(N),-0.9718(T),,chr1,156877457,156877457,T,C,hom,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser234Pro/c.700T>C|1037|PEAR1|protein_coding|CODING|NM_001080471.1|7|1),"HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,CD4:DNase1,HUVEC:H3K36me3,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,HUVEC:FAIRE,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1",,,,1,0.9971,1,0.98,0.93,1.00,,0.010327(N),1.000(P),"0.69,0.69(T,T)",0.0086(T),0.068,0.399402,5.04,5.04,-0.215000,1.276000,2.073000,0.927000,0.863000,0.949000,7.681
synonymous_variant,PEAR1,SILENT,NM_001080471.1:p.Arg286Arg/c.856C>A,Cga/Aga,LOW,COSM424162(3),0.227636,0.3502,rs77235035,,,,,,chr1,156877797,156877797,C,A,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg286Arg/c.856C>A|1037|PEAR1|protein_coding|CODING|NM_001080471.1|8|1),"NHEK:H3K4me3,HUVEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.2198,0.1931,0.1223,0.16,0.22,0.12,,,,,,,,,,,,,,,,
synonymous_variant,PEAR1,SILENT,NM_001080471.1:p.His400His/c.1200T>C,caT/caC,LOW,COSM1335006(2),0.223243,0.3135,rs11264580,,,,,,chr1,156878531,156878531,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His400His/c.1200T>C|1037|PEAR1|protein_coding|CODING|NM_001080471.1|10|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.226,0.1585,0.1243,0.16,0.24,0.12,,,,,,,,,,,,,,,,
synonymous_variant,PEAR1,SILENT,NM_001080471.1:p.Pro440Pro/c.1320T>C,ccT/ccC,LOW,,0.223442,0.3145,rs6671392,,,,,,chr1,156878737,156878737,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro440Pro/c.1320T>C|1037|PEAR1|protein_coding|CODING|NM_001080471.1|11|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.226,0.1585,0.1243,0.17,0.25,0.13,,,,,,,,,,,,,,,,
synonymous_variant,PEAR1,SILENT,NM_001080471.1:p.Pro483Pro/c.1449C>T,ccC/ccT,LOW,,0.176717,0.3145,rs3737224,,,,,,chr1,156879580,156879580,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro483Pro/c.1449C>T|1037|PEAR1|protein_coding|CODING|NM_001080471.1|12|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1871,0.1037,0.1024,0.12,0.16,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PEAR1,SILENT,NM_001080471.1:p.Pro811Pro/c.2433G>C,ccG/ccC,LOW,COSM3996975(1),0.319289,0.3323,rs822441,,,,,,chr1,156882996,156882996,G,C,het,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro811Pro/c.2433G>C|1037|PEAR1|protein_coding|CODING|NM_001080471.1|19|1),"K562:H3K4me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,K562:Znf263,IMR90:H3K36me3,HMEC:H3K27me3,K562:Cjun,NHEK:H3K36me3,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1,K562:Jund",,,,0.2843,0.147,0.159,0.27,0.48,0.16,,,,,,,,,,,,,,,,
missense_variant,PEAR1,MISSENSE,NM_001080471.1:p.Asn848Lys/c.2544C>A,aaC/aaA,MODERATE,COSM3996976(1),0.189696,0.2897,rs822442,0.43(T),0.01(B),1.1(L),-0.9356(T),,chr1,156883215,156883215,C,A,het,missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn848Lys/c.2544C>A|1037|PEAR1|protein_coding|CODING|NM_001080471.1|20|1),"K562:H3K4me3,K562:PolII,GM06990:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:Znf263,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K36me3,K562:H3K4me2,H1ESC:CTCF",,,,0.1585,0.1023,0.1034,0.15,0.23,0.12,,0.742807(N),1.000(P),"-2.46,-2.46(D,D)",0.3317(T),0.041,-1.409761,5.66,2.64,0.563000,0.269000,1.345000,0.069000,0.003000,0.001000,10.6155
missense_variant,PEAR1,MISSENSE,NM_001080471.1:p.Arg885His/c.2654G>A,cGc/cAc,MODERATE,COSM3750444(1),0.231829,0.4732,rs11264581,0.55(T),0.001(B),-0.345(N),-1.0045(T),,chr1,156883493,156883493,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg885His/c.2654G>A|1037|PEAR1|protein_coding|CODING|NM_001080471.1|21|1),"K562:H3K4me3,K562:PolII,GM06990:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:Znf263,IMR90:H3K36me3,K562:H3K9ac,NHEK:H3K36me3,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.2454,0.2954,0.1759,0.14,0.07,0.18,,0.259052(N),1.000(P),"-2.45,-2.45(D,D)",0.1369(T),0.064,2.182510,5.78,-3.72,0.563000,-0.439000,-0.451000,0.740000,0.737000,0.000000,5.0929
missense_variant,PEAR1,MISSENSE,NM_001080471.1:p.Asn903Asp/c.2707A>G,Aat/Gat,MODERATE,,0.451078,0.5913,rs12137505,0.36(T),0.016(B),0.345(N),-0.9907(T),,chr1,156883546,156883546,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn903Asp/c.2707A>G|1037|PEAR1|protein_coding|CODING|NM_001080471.1|21|1),"K562:H3K4me3,K562:PolII,GM06990:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K27me3,K562:Znf263,IMR90:H3K36me3,K562:H3K9ac,NHEK:H3K36me3,HepG2:H3K27me3,K562:H3K4me2",,,,0.5542,0.5591,0.3926,0.35,0.26,0.41,,0.932935(N),1.000(P),"-2.37,-2.37(D,D)",0.2012(T),0.029,0.731082,5.49,-3.91,-0.461000,-0.553000,0.203000,0.009000,0.000000,0.012000,6.234
synonymous_variant,PEAR1,SILENT,NM_001080471.1:p.Asp1036Asp/c.3108C>T,gaC/gaT,LOW,,0.1873,0.2827,rs56260937,,,,,,chr1,156884584,156884584,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1036Asp/c.3108C>T|1037|PEAR1|protein_coding|CODING|NM_001080471.1|23|1),"K562:ZBTB7A,K562:Max,K562:PolII,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,K562:H3K36me3,H1ESC:H3K27me3,K562:Znf263,K562:Cfos,NH-A:DNase1,K562:Cmyc,IMR90:H3K36me3,K562:Junb,K562:E2F6,K562:Cjun,K562:FOSL1,NHEK:H3K36me3,HepG2:H3K27me3,K562:DNase1,K562:Jund",,,,0.1616,0.1628,0.173,0.17,0.17,0.17,,,,,,,,,,,,,,,,
missense_variant,LRRC71,MISSENSE,NM_144702.2:p.Val26Ala/c.77T>C,gTg/gCg,MODERATE,COSM3802269(2),0.188698,0.2847,rs41273221,0.05(D),0.0(B),0.695(N),-0.9568(T),,chr1,156890672,156890672,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val26Ala/c.77T>C|559|LRRC71|protein_coding|CODING|NM_144702.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1616,0.1628,0.174,,,,,0.916908(N),1.000(P),1.81(T),0.0133(T),0.042,1.421957,4.97,-2.03,0.397000,-0.554000,0.040000,0.172000,0.020000,0.440000,4.4224
missense_variant,LRRC71,MISSENSE,NM_144702.2:p.Arg483His/c.1448G>A,cGc/cAc,MODERATE,COSM1335020(3),0.199681,0.2907,rs12119908,0.21(T),"0.403,0.583(B,P)",1.7(L),-1.0936(T),,chr1,156902222,156902222,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg483His/c.1448G>A|559|LRRC71|protein_coding|CODING|NM_144702.2|14|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.1656,0.1643,0.174,0.17,0.19,0.17,,0.564117(N),0.997(P),0.61(T),0.0740(T),0.101,2.567291,5.01,2.13,-0.253000,0.284000,0.171000,0.308000,0.989000,0.389000,7.2592
synonymous_variant,LRRC71,SILENT,NM_144702.2:p.Thr495Thr/c.1485G>A,acG/acA,LOW,,0.754792,0.8492,rs822430,,,,,,chr1,156902259,156902259,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr495Thr/c.1485G>A|559|LRRC71|protein_coding|CODING|NM_144702.2|14|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.7413,0.7061,0.5318,0.64,0.84,0.54,,,,,,,,,,,,,,,,
missense_variant,LRRC71,MISSENSE,NM_144702.2:p.Ser503Ala/c.1507T>G,Tcc/Gcc,MODERATE,COSM146644(1),0.282947,0.2917,rs822431,0.37(T),"0.001,0.004(B,B)",0.895(L),-0.9497(T),,chr1,156902281,156902281,T,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser503Ala/c.1507T>G|559|LRRC71|protein_coding|CODING|NM_144702.2|14|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.1513,0.2997,0.175,0.25,0.41,0.17,,0.462092(N),0.993(P),2.06(T),0.0096(T),0.036,1.085354,4.59,0.602,0.460000,0.265000,-0.154000,0.956000,0.998000,0.114000,0.4647
missense_variant,ARHGEF11,MISSENSE,NM_198236.2:p.His1467Arg/c.4400A>G,cAt/cGt,MODERATE,,0.76238,0.8512,rs386622704,1(T),"0.001,0.0,0.001(B,B,B)",0(N),-1.0305(T),,chr1,156907081,156907081,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1427Arg/c.4280A>G|1522|ARHGEF11|protein_coding|CODING|NM_014784.3|38|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1467Arg/c.4400A>G|1562|ARHGEF11|protein_coding|CODING|NM_198236.2|39|1),upstream_gene_variant(MODIFIER||1045|||MIR765||NON_CODING|NR_030527.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7454,0.7233,0.5517,0.65,0.84,0.55,,0.980184(N),1.000(P),"-0.11,-0.1,-0.04(T,T,T)",0.0331(T),0.046,-0.724522,5.33,-1.64,-0.215000,-0.682000,-0.502000,0.905000,0.007000,0.000000,11.2722
missense_variant,ARHGEF11,MISSENSE,NM_198236.2:p.Ser1456Gly/c.4366A>G,Agc/Ggc,MODERATE,COSM3773433(1),0.40655,0.5169,rs868188,0.04(D),"0.009,0.001,0.008(B,B,B)",0.895(L),-1.0912(T),,chr1,156907115,156907115,T,C,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1416Gly/c.4246A>G|1522|ARHGEF11|protein_coding|CODING|NM_014784.3|38|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1456Gly/c.4366A>G|1562|ARHGEF11|protein_coding|CODING|NM_198236.2|39|1),upstream_gene_variant(MODIFIER||1079|||MIR765||NON_CODING|NR_030527.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5174,0.5014,0.3569,0.31,0.22,0.36,,0.174513(N),0.925(P),"-0.34,-0.33,-0.23(T,T,T)",0.0787(T),0.073,0.409363,4.15,0.503,-0.379000,-0.078000,1.112000,0.140000,0.107000,0.657000,7.6539
synonymous_variant,ARHGEF11,SILENT,NM_198236.2:p.Asn1247Asn/c.3741C>T,aaC/aaT,LOW,COSM3749004(2),0.190695,0.2867,rs2275199,,,,,,chr1,156909695,156909695,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1207Asn/c.3621C>T|1522|ARHGEF11|protein_coding|CODING|NM_014784.3|36|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1247Asn/c.3741C>T|1562|ARHGEF11|protein_coding|CODING|NM_198236.2|37|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1656,0.1628,0.174,0.17,0.17,0.17,,,,,,,,,,,,,,,,
missense_variant,FCRL5,MISSENSE,NM_001195388.1:p.Cys987Ser/c.2960G>C,tGc/tCc,MODERATE,,0.0597045,0.001,rs60516051,,,,,,chr1,157485429,157485429,C,G,hom,"missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys987Ser/c.2960G>C|998|FCRL5|protein_coding|CODING|NM_001195388.1|17|1),3_prime_UTR_variant(MODIFIER||36|c.*36G>C|977|FCRL5|protein_coding|CODING|NM_031281.2|17|1)","GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0133,0.0447,0.0676,0.07,0.11,0.05,,,,,,,,,,,,,,,,
missense_variant,FCRL5,MISSENSE,NM_001195388.1:p.Pro962Leu/c.2885C>T,cCg/cTg,MODERATE,COSM424176(1),0.0223642,0.001,rs115493285,,,,,,chr1,157485504,157485504,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro962Leu/c.2885C>T|998|FCRL5|protein_coding|CODING|NM_001195388.1|17|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser965Ser/c.2895C>T|977|FCRL5|protein_coding|CODING|NM_031281.2|17|1)","GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0133,0.036,0.0676,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,FCRL5,MISSENSE,NM_001195388.1:p.Val466Ile/c.1396G>A,Gtc/Atc,MODERATE,COSM3750456(2),0.693291,0.7887,rs6427384,0.28(T),"0.027,0.027,0.019,0.242,0.027(B,B,B,B,B)",1.185(L),-0.9651(T),,chr1,157508882,157508882,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val466Ile/c.1396G>A|998|FCRL5|protein_coding|CODING|NM_001195388.1|7|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val466Ile/c.1396G>A|977|FCRL5|protein_coding|CODING|NM_031281.2|7|1)","NHEK:H3K27me3,GM06990:H3K36me3",,,,0.8487,0.8098,0.8539,0.70,0.41,0.85,,,1.000(P),"2.74,2.74,2.74,2.74,2.74(T,T,T,T,T)",0.0076(T),0.084,1.335903,3.0,-1.74,-0.448000,-0.541000,-2.010000,0.087000,0.000000,0.000000,3.0118
missense_variant,FCRL5,MISSENSE,NM_001195388.1:p.Gly418Asp/c.1253G>A,gGt/gAt,MODERATE,COSM3750458(2),0.841054,0.878,rs2012199,1(T),"0.004,0.003,0.018,0.001,0.012(B,B,B,B,B)",-1.075(N),-0.9309(T),,chr1,157509025,157509025,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly418Asp/c.1253G>A|998|FCRL5|protein_coding|CODING|NM_001195388.1|7|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly418Asp/c.1253G>A|977|FCRL5|protein_coding|CODING|NM_031281.2|7|1)","NHEK:H3K27me3,GM06990:H3K36me3",,,,0.9264,0.8357,0.8648,0.82,0.76,0.86,,0.280245(N),1.000(P),"3.47,3.47,3.47,3.47,3.47(T,T,T,T,T)",0.0015(T),0.076,-1.448222,3.17,-3.79,-0.521000,-1.176000,-0.841000,0.022000,0.000000,0.000000,7.4074
missense_variant,FCRL5,MISSENSE,NM_001195388.1:p.Val269Ile/c.805G>A,Gtc/Atc,MODERATE,,0.197684,0.0784,rs12036228,0.58(T),"0.053,0.057,0.049,0.084,0.037,0.103(B,B,B,B,B,B)",0.6(N),-0.9125(T),,chr1,157514091,157514091,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val269Ile/c.805G>A|998|FCRL5|protein_coding|CODING|NM_001195388.1|5|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val269Ile/c.805G>A|977|FCRL5|protein_coding|CODING|NM_031281.2|5|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1656,0.1729,0.2376,0.24,0.29,0.21,,,1.000(P),"2.7,2.7,2.7,2.7,2.7(T,T,T,T,T)",0.0069(T),0.055,0.586880,4.0,-1.58,-1.361000,-0.792000,-2.680000,0.000000,0.000000,0.000000,10.5466
missense_variant,FCRL5,MISSENSE,NM_001195388.1:p.Tyr267His/c.799T>C,Tac/Cac,MODERATE,,0.707268,0.9067,rs6679793,0.4(T),"0.001,0.001,0.001,0.004,0.001(B,B,B,B,B)",-1.1(N),-0.9488(T),,chr1,157514097,157514097,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr267His/c.799T>C|998|FCRL5|protein_coding|CODING|NM_001195388.1|5|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr267His/c.799T>C|977|FCRL5|protein_coding|CODING|NM_031281.2|5|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.7648,0.7334,0.8221,0.70,0.47,0.81,,0.012462(N),1.000(P),"2.82,2.82,2.82,2.82,2.82(T,T,T,T,T)",0.0025(T),0.014,-0.109740,4.3,-5.95,-0.313000,-0.960000,-2.279000,0.001000,0.000000,0.000000,3.4258
missense_variant,FCRL3,MISSENSE,NM_052939.3:p.Asn28Asp/c.82A>G,Aat/Gat,MODERATE,,0.470647,0.4345,rs7522061,0.66(T),"0.002,0.001(B,B)",0.515(N),-0.9829(T),,chr1,157668390,157668390,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn28Asp/c.82A>G|734|FCRL3|protein_coding|CODING|NM_052939.3|4|1),"GM12878:H3K27me3,NHEK:H3K27me3",,,,0.2873,0.4539,0.5,0.52,0.63,0.46,,0.267923(N),1.000(P),"2.73,2.73(T,T)",0.0045(T),0.013,-0.196801,5.46,-10.7,-1.889000,-2.887000,-0.482000,0.001000,0.000000,0.000000,10.5479
synonymous_variant,CD1C,SILENT,NM_001765.2:p.Asp51Asp/c.153C>T,gaC/gaT,LOW,COSM3750467(1),0.0601038,0,rs3138099,,,,,,chr1,158261015,158261015,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp51Asp/c.153C>T|333|CD1C|protein_coding|CODING|NM_001765.2|2|1),HMEC:H3K27me3,,,,0.0123,0.0331,0.0447,0.08,0.14,0.05,,,,,,,,,,,,,,,,
missense_variant,CD1E,MISSENSE,NM_030893.3:p.Gln106Arg/c.317A>G,cAg/cGg,MODERATE,,0.616414,0.6617,rs1065457,1(T),"0.001,0.0,0.0,0.001,0.0,0.001,0.0,0.001(B,B,B,B,B,B,B,B)",-0.535(N),-1.0172(T),,chr1,158324425,158324425,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln106Arg/c.317A>G|376|CD1E|protein_coding|CODING|NM_001042583.2|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln106Arg/c.317A>G|290|CD1E|protein_coding|CODING|NM_001042584.2|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln106Arg/c.317A>G|321|CD1E|protein_coding|CODING|NM_001042585.2|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln106Arg/c.317A>G|298|CD1E|protein_coding|CODING|NM_001185107.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln106Arg/c.317A>G|231|CD1E|protein_coding|CODING|NM_001185108.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln106Arg/c.317A>G|286|CD1E|protein_coding|CODING|NM_001185115.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln106Arg/c.317A>G|388|CD1E|protein_coding|CODING|NM_030893.3|2|1),intron_variant(MODIFIER|||c.58+589A>G|289|CD1E|protein_coding|CODING|NM_001185114.1|1|1),intron_variant(MODIFIER|||c.58+589A>G|187|CD1E|protein_coding|CODING|NM_001042586.2|1|1),intron_variant(MODIFIER|||c.58+589A>G|101|CD1E|protein_coding|CODING|NM_001042587.2|1|1),intron_variant(MODIFIER|||c.58+589A>G|132|CD1E|protein_coding|CODING|NM_001185110.1|1|1),intron_variant(MODIFIER|||c.58+589A>G|199|CD1E|protein_coding|CODING|NM_001185112.1|1|1),intron_variant(MODIFIER|||c.58+589A>G|144|CD1E|protein_coding|CODING|NM_001185113.1|1|1)",,,,,0.6002,0.415,0.3579,0.48,0.78,0.34,,0.000789(N),1.000(P),"2.34,2.34,3.63,2.34,2.34,2.34,3.83,3.73(T,T,T,T,T,T,T,T)",0.0029(T),0.015,-0.705122,3.8,-5.46,-0.213000,-1.710000,-4.010000,0.000000,0.000000,0.000000,0.268
missense_variant,OR10T2,MISSENSE,NM_001004475.1:p.Val239Ala/c.716T>C,gTc/gCc,MODERATE,COSM3750469(1),0.365216,0.2262,rs34465440,0.28(T),0.0(B),-0.82(N),-1.2148(T),,chr1,158368541,158368541,A,G,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val239Ala/c.716T>C|314|OR10T2|protein_coding|CODING|NM_001004475.1|1|1),,,,,0.5317,0.3055,0.3131,0.34,0.39,0.31,,0.000819(N),1.000(P),8.79(T),0.0001(T),0.041,-0.149557,4.57,4.57,-0.119000,1.151000,2.686000,0.441000,1.000000,0.472000,11.8768
missense_variant,OR10T2,MISSENSE,NM_001004475.1:p.Ile137Met/c.411A>G,atA/atG,MODERATE,COSM3750470(1),0.365216,0.2262,rs6662382,1(T),0.0(B),-2.255(N),-0.9154(T),,chr1,158368846,158368846,T,C,het,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile137Met/c.411A>G|314|OR10T2|protein_coding|CODING|NM_001004475.1|1|1),,,,,0.5317,0.3055,0.3131,0.34,0.39,0.31,,0.000099(N),1.000(P),2.37(T),0.0022(T),0.075,-2.191600,4.57,2.64,-0.119000,0.164000,2.066000,0.373000,0.223000,1.000000,9.2914
synonymous_variant,OR10K2,SILENT,NM_001004476.1:p.Leu135Leu/c.405A>C,ctA/ctC,LOW,,0.290136,0.1687,rs12239443,,,,,,chr1,158390252,158390252,T,G,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu135Leu/c.405A>C|312|OR10K2|protein_coding|CODING|NM_001004476.1|1|1),,,,,0.3057,0.2709,0.4592,0.38,0.27,0.44,,,,,,,,,,,,,,,,
synonymous_variant,OR10K2,SILENT,NM_001004476.1:p.Asp52Asp/c.156C>T,gaC/gaT,LOW,COSM424225(1),0.280551,0.1687,rs34616883,,,,,,chr1,158390501,158390501,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp52Asp/c.156C>T|312|OR10K2|protein_coding|CODING|NM_001004476.1|1|1),,,,,0.3037,0.2695,0.4592,0.37,0.24,0.44,,,,,,,,,,,,,,,,
missense_variant,OR10K1,MISSENSE,NM_001004473.1:p.Gly193Ser/c.577G>A,Ggc/Agc,MODERATE,COSM3749006(1),0.0363419,0,rs41273489,0.75(T),0.003(B),-1.33(N),-1.0731(T),,chr1,158435928,158435928,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly193Ser/c.577G>A|313|OR10K1|protein_coding|CODING|NM_001004473.1|1|1),,,,,0.0399,0.0576,0.0954,0.07,0.02,0.09,,0.874611(N),1.000(P),8.85(T),0.0000(T),0.067,-1.367623,4.24,1.23,-0.310000,0.055000,-1.198000,0.313000,0.001000,0.000000,4.1017
synonymous_variant,OR10R2,SILENT,NM_001004472.1:p.Ala175Ala/c.525C>T,gcC/gcT,LOW,,0.0375399,0,rs61741711,,,,,,chr1,158450192,158450192,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala175Ala/c.525C>T|335|OR10R2|protein_coding|CODING|NM_001004472.1|1|1),,,,,0.0429,0.0562,0.0994,0.07,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,OR10R2,MISSENSE,NM_001004472.1:p.Ala191Thr/c.571G>A,Gcc/Acc,MODERATE,COSM3750474(1),0.182907,0.1935,rs3820678,0.28(T),0.064(B),0.23(N),-1.0021(T),,chr1,158450238,158450238,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala191Thr/c.571G>A|335|OR10R2|protein_coding|CODING|NM_001004472.1|1|1),,,,,0.2137,0.147,0.2187,0.18,0.14,0.20,,,1.000(P),1.24(T),0.0153(T),0.044,2.272389,4.48,1.21,0.655000,0.466000,-1.780000,0.946000,0.897000,0.000000,5.88
missense_variant,OR10R2,MISSENSE,NM_001004472.1:p.Glu216Gly/c.647A>G,gAa/gGa,MODERATE,,0.496406,0.5675,rs386604315,0.05(D),0.06(B),2.25(M),-1.0193(T),,chr1,158450314,158450314,A,G,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu216Gly/c.647A>G|335|OR10R2|protein_coding|CODING|NM_001004472.1|1|1),,,,,0.4233,0.4424,0.5577,0.52,0.48,0.53,,,1.000(P),8.41(T),0.0003(T),0.217,1.387362,4.37,4.37,0.533000,1.801000,1.838000,0.888000,0.124000,0.008000,8.3167
missense_variant,OR10R2,MISSENSE,NM_001004472.1:p.Leu239Phe/c.715C>T,Ctc/Ttc,MODERATE,,0.434704,0.5685,rs1418843,0.41(T),0.195(B),0.4(N),-1.1401(T),,chr1,158450382,158450382,C,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu239Phe/c.715C>T|335|OR10R2|protein_coding|CODING|NM_001004472.1|1|1),,,,,0.3804,0.3833,0.4573,0.42,0.39,0.43,,,1.000(P),8.66(T),0.0001(T),0.03,1.389376,4.2,-1.39,-0.152000,-0.551000,-6.666000,0.816000,0.713000,0.000000,1.3235
missense_variant,OR6Y1,MISSENSE,NM_001005189.1:p.Thr142Ile/c.425C>T,aCc/aTc,MODERATE,COSM3689073(1),0.00239617,0,rs150369892,0.01(D),0.081(B),3.085(M),-0.9590(T),,chr1,158517471,158517471,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr142Ile/c.425C>T|325|OR6Y1|protein_coding|CODING|NM_001005189.1|1|1),,,,,0,0.0029,0.0099,0.01,0.00,0.01,,0.082533(N),0.998(N),4.97(T),0.0035(T),0.077,0.781183,5.21,2.02,-1.119000,0.338000,0.092000,0.392000,0.617000,0.011000,4.9004
synonymous_variant,OR6P1,SILENT,NM_001160325.1:p.Phe85Phe/c.255T>C,ttT/ttC,LOW,COSM424235(1),0.503994,0.5863,rs12080815,,,,,,chr1,158533140,158533140,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe85Phe/c.255T>C|317|OR6P1|protein_coding|CODING|NM_001160325.1|1|1),,,,,0.4131,0.4135,0.4732,0.49,0.57,0.46,,,,,,,,,,,,,,,,
synonymous_variant,OR6P1,SILENT,NM_001160325.1:p.Arg57Arg/c.171T>C,cgT/cgC,LOW,,0.526558,0.5863,rs12081915,,,,,,chr1,158533224,158533224,A,G,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg57Arg/c.171T>C|317|OR6P1|protein_coding|CODING|NM_001160325.1|1|1),,,,,0.4131,0.4193,0.4742,0.51,0.64,0.46,,,,,,,,,,,,,,,,
synonymous_variant,OR10X1,SILENT,NM_001004477.1:p.Ile142Ile/c.426C>T,atC/atT,LOW,COSM424237(1),0.502396,0.5853,rs863360,,,,,,chr1,158549264,158549264,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile142Ile/c.426C>T|326|OR10X1|protein_coding|CODING|NM_001004477.1|1|1),,,,,0.4131,0.4135,0.4732,0.49,0.57,0.44,,,,,,,,,,,,,,,,
synonymous_variant,OR10X1,SILENT,NM_001004477.1:p.Thr90Thr/c.270G>A,acG/acA,LOW,COSM3747572(1),0.518371,0.5853,rs863361,,,,,,chr1,158549420,158549420,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr90Thr/c.270G>A|326|OR10X1|protein_coding|CODING|NM_001004477.1|1|1),,,,,0.4141,0.4164,0.4732,0.50,0.62,0.45,,,,,,,,,,,,,,,,
missense_variant,OR10X1,MISSENSE,NM_001004477.1:p.Thr90Met/c.269C>T,aCg/aTg,MODERATE,COSM2150613(1),0.0379393,0,rs77690058,0.01(D),0.998(D),3.135(M),-1.0847(T),,chr1,158549421,158549421,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr90Met/c.269C>T|326|OR10X1|protein_coding|CODING|NM_001004477.1|1|1),,,,,0.044,0.0562,0.0984,0.07,0.02,0.10,,0.000120(D),0.532(N),6.42(T),0.0070(T),0.439,2.488577,5.13,5.13,0.650000,2.648000,1.249000,0.229000,0.953000,0.002000,17.5191
stop_gained,OR10X1,NONSENSE,NM_001004477.1:p.Trp66*/c.198G>A,tgG/tgA,HIGH,,0.502396,0.5853,rs863362,0.25(T),,,,,chr1,158549492,158549492,C,T,het,stop_gained(HIGH|NONSENSE|tgG/tgA|p.Trp66*/c.198G>A|326|OR10X1|protein_coding|CODING|NM_001004477.1|1|1),,,,,0.4131,0.4135,0.4732,0.49,0.57,0.44,,0.008035(N),0.000(P),,,.,2.598003,5.13,4.18,0.650000,2.648000,-0.039000,0.514000,0.956000,0.000000,13.0701
missense_variant,OR10X1,MISSENSE,NM_001004477.1:p.Ile60Thr/c.179T>C,aTc/aCc,MODERATE,,0.518171,0.5853,rs863363,0.69(T),0.0(B),0.26(N),-0.9961(T),,chr1,158549511,158549511,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile60Thr/c.179T>C|326|OR10X1|protein_coding|CODING|NM_001004477.1|1|1),,,,,0.4131,0.4164,0.4732,0.50,0.62,0.45,,0.978378(N),1.000(P),5.28(T),0.0007(T),0.044,-1.774832,5.13,3.2,-0.128000,0.296000,-0.149000,0.204000,0.254000,0.000000,4.2448
synonymous_variant,SPTA1,SILENT,NM_003126.2:p.Ala2365Ala/c.7095A>G,gcA/gcG,LOW,,0.504792,0.6319,rs2251969,,,,,,chr1,158582646,158582646,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala2365Ala/c.7095A>G|2419|SPTA1|protein_coding|CODING|NM_003126.2|51|1),K562:H3K36me3,,,,0.4202,0.5202,0.5626,0.51,0.44,0.54,,,,,,,,,,,,,,,,
missense_variant,SPTA1,MISSENSE,NM_003126.2:p.Ile2265Thr/c.6794T>C,aTc/aCc,MODERATE,COSM3733640(1),0.50619,0.6319,rs952094,1(T),0.0(B),-0.625(N),-0.9598(T),,chr1,158584091,158584091,A,G,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile2265Thr/c.6794T>C|2419|SPTA1|protein_coding|CODING|NM_003126.2|49|1),K562:H3K36me3,,,,0.4202,0.5202,0.5636,0.51,0.43,0.54,,,1.000(P),"0.94,0.78(T,T)",0.0134(T),0.047,-1.972266,5.53,1.28,-0.724000,0.144000,2.478000,0.186000,0.663000,1.000000,7.2407
synonymous_variant,SPTA1,SILENT,NM_003126.2:p.Pro1986Pro/c.5958C>T,ccC/ccT,LOW,,0.310503,0.2044,rs3753068,,,,,,chr1,158592935,158592935,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1986Pro/c.5958C>T|2419|SPTA1|protein_coding|CODING|NM_003126.2|43|1),K562:H3K36me3,,,,0.2924,0.2478,0.3091,0.33,0.41,0.29,,,,,,,,,,,,,,,,
missense_variant,SPTA1,MISSENSE,NM_003126.2:p.Leu1858Val/c.5572C>G,Cta/Gta,MODERATE,COSM3750478(1),0.227835,0.2054,rs3737515,0.05(D),0.395(B),2.3(M),-1.0044(T),,chr1,158597507,158597507,G,C,hom,missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu1858Val/c.5572C>G|2419|SPTA1|protein_coding|CODING|NM_003126.2|40|1),K562:H3K36me3,,,,0.2515,0.2133,0.2863,0.25,0.19,0.28,,0.295829(N),0.032(P),"0.82,0.82(T,T)",0.0999(T),0.16,2.107732,5.55,2.68,-0.136000,0.451000,2.457000,0.560000,0.678000,1.000000,10.2495
synonymous_variant,SPTA1,SILENT,NM_003126.2:p.Ala1764Ala/c.5292C>A,gcC/gcA,LOW,COSM3750479(1),0.320487,0.2054,rs3738791,,,,,,chr1,158606449,158606449,G,T,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala1764Ala/c.5292C>A|2419|SPTA1|protein_coding|CODING|NM_003126.2|37|1),K562:H3K36me3,,,,0.2904,0.2522,0.3101,0.34,0.44,0.29,,,,,,,,,,,,,,,,
missense_variant,SPTA1,MISSENSE,NM_003126.2:p.Cys1568Arg/c.4702T>C,Tgt/Cgt,MODERATE,,0.59405,0.6359,rs863931,0.69(T),0.0(B),-1.845(N),-0.9464(T),,chr1,158612236,158612236,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1568Arg/c.4702T>C|2419|SPTA1|protein_coding|CODING|NM_003126.2|33|1),K562:H3K36me3,,,,0.4591,0.5605,0.5865,0.60,0.68,0.56,,0.008681(N),0.997(P),"0.87,0.87(T,T)",0.0079(T),0.08,-2.205016,5.26,1.01,-0.119000,0.084000,0.863000,0.097000,0.175000,0.752000,10.0752
missense_variant,SPTA1,MISSENSE,NM_003126.2:p.Ser1163Ala/c.3487T>G,Tcc/Gcc,MODERATE,,0.994609,1,rs2482965,0.65(T),0.001(B),-0.695(N),-1.0620(T),,chr1,158619728,158619728,A,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser1163Ala/c.3487T>G|2419|SPTA1|protein_coding|CODING|NM_003126.2|25|1),K562:H3K36me3,,,,1,1,1,0.99,0.98,1.00,,0.868939(N),1.000(P),"-0.22,-0.22(T,T)",0.0303(T),0.012,0.295459,5.08,-1.91,-0.127000,-0.461000,0.176000,0.457000,0.807000,0.691000,6.9554
synonymous_variant,SPTA1,SILENT,NM_003126.2:p.Ala314Ala/c.942T>A,gcT/gcA,LOW,,0.956869,1,rs325996,,,,,,chr1,158647495,158647495,A,T,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala314Ala/c.942T>A|2419|SPTA1|protein_coding|CODING|NM_003126.2|7|1),K562:H3K36me3,,,,1,0.9914,0.996,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SPTA1,SILENT,NM_003126.2:p.Ser305Ser/c.915T>C,agT/agC,LOW,,0.453874,0.5833,rs703121,,,,,,chr1,158647522,158647522,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser305Ser/c.915T>C|2419|SPTA1|protein_coding|CODING|NM_003126.2|7|1),K562:H3K36me3,,,,0.4254,0.5058,0.6153,0.48,0.28,0.57,,,,,,,,,,,,,,,,
synonymous_variant,SPTA1,SILENT,NM_003126.2:p.Val42Val/c.126C>T,gtC/gtT,LOW,,0.969848,1,rs435080,,,,,,chr1,158655036,158655036,G,A,hom,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val42Val/c.126C>T|2419|SPTA1|protein_coding|CODING|NM_003126.2|2|1),"K562:H3K4me3,K562:H3K27ac,K562:H3K36me3,K562:H3K9ac,K562:H3K79me2,K562:H3K4me2,K562:DNase1",,,,1,0.9957,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,OR6K3,MISSENSE,NM_001005327.2:p.Pro248Leu/c.743C>T,cCg/cTg,MODERATE,COSM3750480(1),0.388978,0.4474,rs28568406,0.83(T),0.0(B),-2.74(N),-0.9406(T),,chr1,158687163,158687163,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro248Leu/c.743C>T|315|OR6K3|protein_coding|CODING|NM_001005327.2|1|1),,,,,0.1708,0.4323,0.3966,0.41,0.48,0.38,,,1.000(P),"1.43,1.43(T,T)",0.0036(T),0.069,-0.583678,3.77,3.77,-0.516000,0.606000,0.037000,0.446000,0.001000,0.000000,8.466
missense_variant,OR6K3,MISSENSE,NM_001005327.2:p.Pro228Ser/c.682C>T,Ccc/Tcc,MODERATE,COSM146654(3),0.280351,0.4474,rs857703,0.1(T),0.05(B),1.4(L),-1.0615(T),,chr1,158687224,158687224,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro228Ser/c.682C>T|315|OR6K3|protein_coding|CODING|NM_001005327.2|1|1),,,,,0.1708,0.389,0.3946,0.29,0.13,0.38,,,1.000(P),"1.23,1.23(T,T)",0.0315(T),0.042,2.243764,3.77,0.813,0.467000,0.055000,-0.113000,0.627000,0.001000,0.000000,7.9959
missense_variant,OR6K3,MISSENSE,NM_001005327.2:p.Gly4Arg/c.10G>A,Gga/Aga,MODERATE,COSM3750481(2),0.22504,0.1518,rs857705,0.5(T),0.002(B),0.715(N),-1.0603(T),,chr1,158687896,158687896,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly4Arg/c.10G>A|315|OR6K3|protein_coding|CODING|NM_001005327.2|1|1),,,,,0.2546,0.1614,0.2227,0.23,0.28,0.20,,,1.000(P),"7.08,7.08(T,T)",0.0002(T),0.029,0.081406,3.89,-2.94,-1.804000,-0.465000,-1.046000,0.016000,0.000000,0.000000,2.3035
missense_variant,OR6K6,MISSENSE,NM_001005184.1:p.Arg159Cys/c.475C>T,Cgt/Tgt,MODERATE,,0.103435,0.1667,rs16841001,0.05(D),0.066(B),1.925(M),-0.9245(T),,chr1,158725080,158725080,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg159Cys/c.475C>T|343|OR6K6|protein_coding|CODING|NM_001005184.1|1|1),,,,,0.0634,0.1095,0.1541,0.11,0.06,0.13,,0.054656(N),0.000(P),4.36(T),0.0062(T),0.202,2.646762,5.48,5.48,0.655000,2.848000,2.968000,0.782000,1.000000,0.706000,18.27
missense_variant,OR6N1,MISSENSE,NM_001005185.1:p.Arg293His/c.878G>A,cGc/cAc,MODERATE,COSM1179737(2),0.667931,0.6171,rs857824,0.02(D),0.041(B),3.22(M),-0.9319(T),,chr1,158735595,158735595,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg293His/c.878G>A|312|OR6N1|protein_coding|CODING|NM_001005185.1|1|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3",,,,0.4335,0.7839,0.7217,0.74,0.78,0.72,,0.005981(N),0.627(P),1.01(T),0.0850(T),0.129,2.401976,4.92,4.01,0.643000,1.279000,1.872000,0.995000,1.000000,0.143000,8.7382
missense_variant,OR6N1,MISSENSE,NM_001005185.1:p.Gln261Arg/c.782A>G,cAg/cGg,MODERATE,COSM1179738(2),0.667931,0.6171,rs857825,1(T),0.0(B),-1.165(N),-0.9867(T),,chr1,158735691,158735691,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln261Arg/c.782A>G|312|OR6N1|protein_coding|CODING|NM_001005185.1|1|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3",,,,0.4335,0.7839,0.7217,0.74,0.78,0.72,,0.000859(N),1.000(P),1.25(T),0.0094(T),0.074,-2.029825,4.74,4.74,-0.119000,1.211000,1.410000,0.113000,0.945000,0.001000,12.1889
missense_variant,OR6N1,MISSENSE,NM_001005185.1:p.Phe245Leu/c.733T>C,Ttc/Ctc,MODERATE,COSM1127314(9),0.667931,0.6171,rs857826,1(T),0.0(B),-2.055(N),-0.9478(T),,chr1,158735740,158735740,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe245Leu/c.733T>C|312|OR6N1|protein_coding|CODING|NM_001005185.1|1|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3",,,,0.4335,0.7839,0.7217,0.74,0.78,0.72,,0.000915(N),0.999(P),1.71(T),0.0043(T),0.053,-0.266661,4.74,4.74,-0.119000,1.211000,3.015000,0.693000,1.000000,1.000000,12.1889
missense_variant,OR6N1,MISSENSE,NM_001005185.1:p.Ile194Thr/c.581T>C,aTa/aCa,MODERATE,COSM1559899(2),0.667931,0.6171,rs857827,0.28(T),0.002(B),0.81(L),-1.0495(T),,chr1,158735892,158735892,A,G,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile194Thr/c.581T>C|312|OR6N1|protein_coding|CODING|NM_001005185.1|1|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3",,,,0.4335,0.7839,0.7217,0.74,0.78,0.72,,0.145796(N),1.000(P),8.6(T),0.0001(T),0.099,0.161768,4.78,3.65,0.533000,0.836000,0.391000,0.908000,0.805000,0.000000,4.054
synonymous_variant,OR6N1,SILENT,NM_001005185.1:p.Leu86Leu/c.258C>T,ctC/ctT,LOW,,0.8125,0.9087,rs6666753,,,,,,chr1,158736215,158736215,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu86Leu/c.258C>T|312|OR6N1|protein_coding|CODING|NM_001005185.1|1|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3",,,,0.6022,0.9308,0.9473,0.86,0.74,0.93,,,,,,,,,,,,,,,,
synonymous_variant,MNDA,SILENT,NM_002432.1:p.Pro159Pro/c.477A>G,ccA/ccG,LOW,COSM3750482(1),0.528155,0.6954,rs857870,,,,,,chr1,158813819,158813819,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro159Pro/c.477A>G|407|MNDA|protein_coding|CODING|NM_002432.1|4|1),,,,,0.5869,0.5447,0.5825,0.50,0.37,0.57,,,,,,,,,,,,,,,,
missense_variant,IFI16,MISSENSE,NM_005531.2:p.Ser179Thr/c.536G>C,aGt/aCt,MODERATE,,0.636182,0.5933,rs866484,1(T),"0.001,0.0(B,B)",-0.755(N),-0.9187(T),,chr1,158986477,158986477,G,C,hom,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser179Thr/c.536G>C|729|IFI16|protein_coding|CODING|NM_005531.2|4|1),intron_variant(MODIFIER|||c.381+700G>C|729|IFI16|protein_coding|CODING|NM_001206567.1|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.682,0.8444,0.7853,0.67,0.46,0.78,,,1.000(P),"2.26,3.68,3.68,3.69,3.69(T,T,T,T,T)",0.0034(T),0.108,-2.175702,2.42,0.384,-0.357000,-0.177000,-2.761000,0.012000,0.000000,0.000000,4.6147
missense_variant,IFI16,MISSENSE,NM_001206567.1:p.Arg353Ser/c.1057C>A,Cgt/Agt,MODERATE,COSM3997001(1),0.63099,0.5883,rs1057027,1(T),"0.0,0.001,0.0(B,B,B)",-1.445(N),-0.9237(T),,chr1,159002377,159002377,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg353Ser/c.1057C>A|729|IFI16|protein_coding|CODING|NM_001206567.1|6|1),missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg409Ser/c.1225C>A|729|IFI16|protein_coding|CODING|NM_005531.2|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.8689,0.838,0.69,0.43,0.82,,,1.000(P),"3.77,3.87,3.8,3.8,3.8(T,T,T,T,T)",0.0059(T),0.055,-1.803729,2.15,2.15,-0.525000,0.257000,0.250000,0.003000,0.135000,0.001000,5.2195
missense_variant,IFI16,MISSENSE,NM_001206567.1:p.Tyr357Asn/c.1069T>A,Tat/Aat,MODERATE,COSM3997003(1),0.630791,0.5873,rs1057028,,,-0.895(N),-0.9268(T),,chr1,159002389,159002389,T,A,hom,"missense_variant(MODERATE|MISSENSE|Tat/Aat|p.Tyr357Asn/c.1069T>A|729|IFI16|protein_coding|CODING|NM_001206567.1|6|1),missense_variant(MODERATE|MISSENSE|Tat/Aat|p.Tyr413Asn/c.1237T>A|729|IFI16|protein_coding|CODING|NM_005531.2|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.8689,0.838,0.69,0.43,0.82,,,1.000(P),,0.0010(T),.,-1.109001,2.15,-4.3,-0.527000,-1.913000,-2.519000,0.004000,0.000000,0.000000,0.1053
synonymous_variant,CADM3,SILENT,NM_021189.3:p.Leu385Leu/c.1155T>C,ctT/ctC,LOW,,0.83107,0.9276,rs386617840,,,,,,chr1,159169641,159169641,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu351Leu/c.1053T>C|398|CADM3|protein_coding|CODING|NM_001127173.1|8|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu385Leu/c.1155T>C|432|CADM3|protein_coding|CODING|NM_021189.3|9|1),non_coding_exon_variant(MODIFIER|||n.992A>G||CADM3-AS1||NON_CODING|NR_037870.1|3|1)","H1ESC:H3K36me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7914,0.7205,0.7425,0.79,0.88,0.74,,,,,,,,,,,,,,,,
missense_variant,ACKR1,MISSENSE,NM_001122951.2:p.Gly44Asp/c.131G>A,gGt/gAt,MODERATE,COSM3735937(1),0.540535,0.0774,rs12075,1(T),"0.0,0.0(B,B)",-0.46(N),-0.9454(T),,chr1,159175354,159175354,G,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly44Asp/c.131G>A|338|ACKR1|protein_coding|CODING|NM_001122951.2|1|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly42Asp/c.125G>A|336|ACKR1|protein_coding|CODING|NM_002036.3|2|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,H1ESC:CTCF","Obesity_related_traits,Monocyte_chemoattractant_protein_1,Inflammatory_biomarkers,White_blood_cell_count",RCV000000005.1,,0.3599,0.5389,0.6024,0.69,0.92,0.58,,,1.000(P),"4.47,4.47,1.96,4.46(T,T,T,T)",0.0042(T),0.292,-1.074849,4.36,-1.07,-0.361000,-0.484000,0.283000,0.007000,0.000000,0.000000,3.1012
missense_variant,ACKR1,MISSENSE,NM_001122951.2:p.Ala102Thr/c.304G>A,Gca/Aca,MODERATE,COSM3750489(1),0.0688898,0,rs13962,0.12(T),"0.763,0.763(P,P)",1.15(L),-1.0820(T),,chr1,159175527,159175527,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala102Thr/c.304G>A|338|ACKR1|protein_coding|CODING|NM_001122951.2|1|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala100Thr/c.298G>A|336|ACKR1|protein_coding|CODING|NM_002036.3|2|1)","HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",IgE_levels,,,0.091,0.0937,0.1839,0.12,0.03,0.17,,0.172829(U),1.000(P),"1.17,1.17,1.66,1.17(T,T,T,T)",0.0543(T),0.384,2.438188,5.09,3.07,0.561000,1.259000,0.380000,0.170000,0.224000,0.098000,5.8028
missense_variant,OR10J1,MISSENSE,NM_012351.2:p.Met62Ile/c.186G>T,atG/atT,MODERATE,,0.988219,1,rs10908722,0.51(T),0.0(B),-0.015(N),-0.9029(T),,chr1,159409734,159409734,G,T,hom,missense_variant(MODERATE|MISSENSE|atG/atT|p.Met62Ile/c.186G>T|320|OR10J1|protein_coding|CODING|NM_012351.2|1|1),GM06990:H3K27me3,,,,1,0.9971,1,0.99,0.97,1.00,,0.194033(N),1.000(P),4.11(T),0.0012(T),0.03,-1.630514,4.38,-5.45,-3.304000,-2.436000,-4.782000,0.000000,0.000000,0.000000,2.818
missense_variant,OR10J1,MISSENSE,NM_012351.2:p.Ile103Met/c.309A>G,atA/atG,MODERATE,COSM146660(4),0.479633,0.2381,rs12048482,0.02(D),0.841(P),2.8(M),-0.9028(T),,chr1,159409857,159409857,A,G,hom,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile103Met/c.309A>G|320|OR10J1|protein_coding|CODING|NM_012351.2|1|1),GM06990:H3K27me3,,,,0.6022,0.5101,0.6471,0.59,0.49,0.64,,0.000776(D),1.000(P),7.13(T),0.0012(T),0.284,1.129702,4.25,-1.89,-0.290000,-0.511000,-1.590000,0.035000,0.000000,0.000000,3.6942
synonymous_variant,OR10J5,SILENT,NM_001004469.1:p.Pro167Pro/c.501G>A,ccG/ccA,LOW,COSM146661(2),0.552915,0.494,rs4656837,,,,,,chr1,159505297,159505297,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro167Pro/c.501G>A|309|OR10J5|protein_coding|CODING|NM_001004469.1|1|1),,,,,0.7403,0.6614,0.6948,0.60,0.38,0.71,,,,,,,,,,,,,,,,
synonymous_variant,APCS,SILENT,NM_001639.3:p.Val144Val/c.432A>G,gtA/gtG,LOW,,0.900359,0.9921,rs2808661,,,,,,chr1,159558258,159558258,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val144Val/c.432A>G|223|APCS|protein_coding|CODING|NM_001639.3|2|1),NHEK:H3K27me3,,,,0.7526,0.9063,0.839,0.87,0.96,0.82,,,,,,,,,,,,,,,,
synonymous_variant,CRP,SILENT,NM_000567.2:p.Leu184Leu/c.552G>C,ctG/ctC,LOW,,0.0329473,0.0605,rs1800947,,,,,,chr1,159683438,159683438,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu184Leu/c.552G>C|224|CRP|protein_coding|CODING|NM_000567.2|2|1),,,,,0.0245,0.0375,0.0507,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,FCRL6,MISSENSE,NM_001004310.2:p.Gly160Asp/c.479G>A,gGc/gAc,MODERATE,,0.0642971,0.0149,rs72700615,0.12(T),"0.006,0.028,0.025(B,B,B)",0.515(N),-0.9083(T),,chr1,159778910,159778910,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly160Asp/c.479G>A|434|FCRL6|protein_coding|CODING|NM_001004310.2|4|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly167Asp/c.500G>A|413|FCRL6|protein_coding|CODING|NM_001284217.1|5|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0603,0.085,0.1392,0.11,0.06,0.13,,0.982432(N),1.000(P),"3.92,3.92,3.92(T,T,T)",0.0027(T),0.048,1.420661,4.64,-0.505,0.585000,0.353000,0.052000,0.064000,0.001000,0.000000,3.8829
synonymous_variant,FCRL6,SILENT,NM_001004310.2:p.Pro184Pro/c.552T>C,ccT/ccC,LOW,,0.271565,0.1855,rs12083967,,,,,,chr1,159778983,159778983,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro184Pro/c.552T>C|434|FCRL6|protein_coding|CODING|NM_001004310.2|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro191Pro/c.573T>C|413|FCRL6|protein_coding|CODING|NM_001284217.1|5|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1145,0.2363,0.1998,0.28,0.46,0.19,,,,,,,,,,,,,,,,
missense_variant,C1orf204,MISSENSE,NM_001134233.1:p.Gln21Glu/c.61C>G,Caa/Gaa,MODERATE,COSM3747573(2),0.93111,0.9474,rs2501340,0.04(D),0.0(B),,-1.0709(T),,chr1,159824967,159824967,G,C,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln21Glu/c.61C>G|235|C1orf204|protein_coding|CODING|NM_001134233.1|1|1),splice_region_variant(LOW|||c.61C>G|235|C1orf204|protein_coding|CODING|NM_001134233.1|1|1),intron_variant(MODIFIER|||c.972-151C>G|414|VSIG8|protein_coding|CODING|NM_001013661.1|6|1)","CD4:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,IMR90:H3K9ac,CD4:H2BK5ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,HeLa-S3:Max,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:H3K27me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,CD4:H3K9ac,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9202,0.9063,0.8598,0.90,0.97,0.87,,,1.000(P),,0.0357(T),0.008,-2.371640,4.37,2.43,-0.216000,0.309000,0.163000,0.074000,0.003000,0.000000,3.3687
missense_variant,SLAMF9,MISSENSE,NM_033438.3:p.Ile127Leu/c.379A>C,Ata/Cta,MODERATE,,0.890176,1,rs2789417,,"0.0,0.001(B,B)",-2.955(N),-0.9695(T),,chr1,159923111,159923111,T,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile127Leu/c.379A>C|198|SLAMF9|protein_coding|CODING|NM_001146172.1|2|1),missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile127Leu/c.379A>C|289|SLAMF9|protein_coding|CODING|NM_033438.3|2|1),intron_variant(MODIFIER|||c.255+124A>C|111|SLAMF9|protein_coding|CODING|NM_001146173.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9274,0.9409,0.8966,0.86,0.76,0.91,,0.000108(N),1.000(P),"1.96,2.08(T,T)",0.0026(T),0.112,-0.356628,5.28,5.28,-0.121000,1.239000,2.161000,0.003000,0.036000,0.738000,11.4711
synonymous_variant,ATP1A2,SILENT,NM_000702.3:p.Ser373Ser/c.1119G>A,tcG/tcA,LOW,,0.209665,0.1548,rs1063125,,,,-1.0949(T),,chr1,160098543,160098543,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser373Ser/c.1119G>A|1020|ATP1A2|protein_coding|CODING|NM_000702.3|9|1),"H1ESC:H3K36me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,RCV000116446.2,,0.365,0.0908,0.1869,0.19,0.19,0.19,,,0.000(P),,0.0119(T),.,0.842037,4.77,-9.55,-1.010000,-3.646000,-6.597000,0.960000,0.080000,0.000000,3.2346
missense_variant,ATP1A4,MISSENSE,NM_144699.3:p.Gly83Asp/c.248G>A,gGt/gAt,MODERATE,,0.693091,0.6835,rs6427504,1(T),0.0(B),-2.97(N),-1.0346(T),,chr1,160124875,160124875,G,A,hom,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly83Asp/c.248G>A|1029|ATP1A4|protein_coding|CODING|NM_144699.3|3|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:SP1",,,,0.6166,0.7104,0.6958,0.73,0.75,0.72,,0.180969(N),0.000(P),-1.09(T),0.0222(T),0.045,-0.968965,4.48,4.48,-0.254000,0.754000,6.088000,0.076000,0.538000,1.000000,8.2844
missense_variant,ATP1A4,MISSENSE,NM_144699.3:p.Glu297Lys/c.889G>A,Gaa/Aaa,MODERATE,COSM3750508(1),0.0449281,0.002,rs17368402,0(D),0.185(B),1.8(L),-0.2293(T),,chr1,160134056,160134056,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu297Lys/c.889G>A|1029|ATP1A4|protein_coding|CODING|NM_144699.3|7|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0849,0.0562,0.0974,0.08,0.02,0.11,,0.000056(N),1.000(D),-2.72(D),0.4974(T),0.136,0.982061,4.54,1.62,-2.387000,0.013000,3.911000,0.050000,0.010000,1.000000,10.4681
synonymous_variant,ATP1A4,SILENT,NM_144699.3:p.Ala346Ala/c.1038C>T,gcC/gcT,LOW,,0.528754,0.5417,rs11265338,,,,,,chr1,160134205,160134205,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala346Ala/c.1038C>T|1029|ATP1A4|protein_coding|CODING|NM_144699.3|7|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.5266,0.6758,0.6421,0.55,0.41,0.62,,,,,,,,,,,,,,,,
synonymous_variant,ATP1A4,SILENT,NM_144699.3:p.Ala360Ala/c.1080G>A,gcG/gcA,LOW,COSM3750509(1),0.468251,0.4851,rs55710009,,,,,,chr1,160136350,160136350,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala360Ala/c.1080G>A|1029|ATP1A4|protein_coding|CODING|NM_144699.3|8|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5757,0.5375,0.5457,0.49,0.33,0.57,,,,,,,,,,,,,,,,
synonymous_variant,ATP1A4,SILENT,NM_144699.3:p.Tyr549Tyr/c.1647C>T,taC/taT,LOW,,0.993011,1,rs386487977,,,,,,chr1,160141196,160141196,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr549Tyr/c.1647C>T|1029|ATP1A4|protein_coding|CODING|NM_144699.3|11|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,SLAMF1,MISSENSE,NM_003037.3:p.Pro333Thr/c.997C>A,Cca/Aca,MODERATE,COSM3750515(1),0.0395367,0.005,rs3796504,0.01(D),0.999(D),0.975(L),-1.1061(T),,chr1,160580549,160580549,G,T,het,"missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro333Thr/c.997C>A|335|SLAMF1|protein_coding|CODING|NM_003037.3|7|1),non_coding_exon_variant(MODIFIER|||n.1289C>A||SLAMF1||CODING|NR_104399.1|6|1),non_coding_exon_variant(MODIFIER|||n.1199C>A||SLAMF1||CODING|NR_104400.1|5|1),non_coding_exon_variant(MODIFIER|||n.1284C>A||SLAMF1||CODING|NR_104401.1|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,GM06990:H3K36me3",,,,0.0634,0.0648,0.0835,0.06,0.02,0.09,,0.386171(N),1.000(D),"2.38,1.77(T,T)",0.0739(T),0.27,3.746407,4.08,4.08,0.655000,2.539000,3.668000,0.981000,0.996000,0.998000,12.092
synonymous_variant,SLAMF1,SILENT,NM_003037.3:p.Thr210Thr/c.630C>T,acC/acT,LOW,COSM3750516(2),0.0467252,0.0129,rs164288,,,,,,chr1,160604473,160604473,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr210Thr/c.630C>T|335|SLAMF1|protein_coding|CODING|NM_003037.3|3|1),non_coding_exon_variant(MODIFIER|||n.991C>T||SLAMF1||CODING|NR_104401.1|3|1),non_coding_exon_variant(MODIFIER|||n.996C>T||SLAMF1||CODING|NR_104399.1|3|1),non_coding_exon_variant(MODIFIER|||n.996C>T||SLAMF1||CODING|NR_104400.1|3|1)","GM12878:BCL3,GM12878:H3K36me3,GM12878:POU2F2,CD4:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0706,0.0648,0.0815,0.07,0.03,0.09,,,,,,,,,,,,,,,,
missense_variant,CD48,MISSENSE,NM_001256030.1:p.Ile244Thr/c.731T>C,aTt/aCt,MODERATE,,0.828674,1,rs4656926,,,,,,chr1,160650913,160650913,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile244Thr/c.731T>C|252|CD48|protein_coding|CODING|NM_001256030.1|3|1),intron_variant(MODIFIER|||c.652+79T>C|243|CD48|protein_coding|CODING|NM_001778.3|3|1)","CD4:H4K91ac,GM12878:H3K36me3,CD4:H4K20me1,CD4:H3K36me3,GM12878:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9539,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,CD48,MISSENSE,NM_001256030.1:p.Glu102Gln/c.304G>C,Gag/Cag,MODERATE,COSM146667(1),0.077476,0.0198,rs2295615,0.02(D),"0.831,0.961,0.958(P,D,D)",2.34(M),-1.0718(T),,chr1,160654758,160654758,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu102Gln/c.304G>C|252|CD48|protein_coding|CODING|NM_001256030.1|2|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu102Gln/c.304G>C|243|CD48|protein_coding|CODING|NM_001778.3|2|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,GM12878:H3K79me2,CD4:H3K27ac,HMEC:H3K27me3,GM12878:PolII,HeLa-S3:H3K27me3,CD4:H3K4ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.0532,0.0951,0.1054,0.13,0.13,0.14,,0.020819(N),1.000(P),"1.72,1.72(T,T)",0.0684(T),0.13,2.470593,3.59,1.54,0.462000,0.427000,-0.538000,0.127000,0.000000,0.000000,3.6294
synonymous_variant,CD48,SILENT,NM_001256030.1:p.Gly92Gly/c.276C>T,ggC/ggT,LOW,COSM3750518(1),0.234425,0.1448,rs1980606,,,,,,chr1,160654786,160654786,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly92Gly/c.276C>T|252|CD48|protein_coding|CODING|NM_001256030.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly92Gly/c.276C>T|243|CD48|protein_coding|CODING|NM_001778.3|2|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,GM12878:H3K79me2,CD4:H3K27ac,HMEC:H3K27me3,GM12878:PolII,HeLa-S3:H3K27me3,CD4:H3K4ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2331,0.2637,0.1859,0.25,0.30,0.22,,,,,,,,,,,,,,,,
synonymous_variant,LY9,SILENT,NM_002348.3:p.Val562Val/c.1686A>G,gtA/gtG,LOW,,0.632188,0.7034,rs474131,,,,,,chr1,160793442,160793442,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val472Val/c.1416A>G|565|LY9|protein_coding|CODING|NM_001261457.1|7|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val562Val/c.1686A>G|655|LY9|protein_coding|CODING|NM_002348.3|8|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val548Val/c.1644A>G|641|LY9|protein_coding|CODING|NM_001261456.1|8|1)","CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6483,0.6643,0.4493,0.49,0.64,0.42,,,,,,,,,,,,,,,,
missense_variant,LY9,MISSENSE,NM_002348.3:p.Pro577Leu/c.1730C>T,cCt/cTt,MODERATE,,,,,0.42(T),"0.003,0.028,0.004,0.004,0.006,0.003(B,B,B,B,B,B)",1.1(L),-0.9768(T),,chr1,160793486,160793486,C,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro487Leu/c.1460C>T|565|LY9|protein_coding|CODING|NM_001261457.1|7|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro577Leu/c.1730C>T|655|LY9|protein_coding|CODING|NM_002348.3|8|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro563Leu/c.1688C>T|641|LY9|protein_coding|CODING|NM_001261456.1|8|1)","CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"1.44,2.58,1.49,2.58(T,T,T,T)",0.0147(T),0.075,0.490398,3.06,0.076,-0.355000,0.012000,-0.250000,0.001000,0.000000,0.000000,2.8361
missense_variant,LY9,MISSENSE,NM_002348.3:p.Met602Val/c.1804A>G,Atg/Gtg,MODERATE,COSM3927616(3),0.660144,0.7034,rs509749,1(T),"0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",-0.625(N),-1.0110(T),,chr1,160793560,160793560,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met512Val/c.1534A>G|565|LY9|protein_coding|CODING|NM_001261457.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met602Val/c.1804A>G|655|LY9|protein_coding|CODING|NM_002348.3|8|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met588Val/c.1762A>G|641|LY9|protein_coding|CODING|NM_001261456.1|8|1)","CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6483,0.6686,0.4503,0.53,0.74,0.42,,0.029726(N),1.000(P),"1.66,2.69,1.57,2.69(T,T,T,T)",0.0090(T),0.013,-2.600850,3.21,2.28,-3.149000,0.061000,-0.210000,0.010000,0.000000,0.000000,8.3708
synonymous_variant,ARHGAP30,SILENT,NM_001025598.1:p.Arg1085Arg/c.3255G>A,agG/agA,LOW,,0.218251,0.1389,rs2774279,,,,,,chr1,161017556,161017556,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg874Arg/c.2622G>A|890|ARHGAP30|protein_coding|CODING|NM_181720.2|13|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg1085Arg/c.3255G>A|1101|ARHGAP30|protein_coding|CODING|NM_001025598.1|12|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg937Arg/c.2811G>A|953|ARHGAP30|protein_coding|CODING|NM_001287600.1|11|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg908Arg/c.2724G>A|924|ARHGAP30|protein_coding|CODING|NM_001287602.1|8|1),upstream_gene_variant(MODIFIER||1787||310|USF1|protein_coding|CODING|NM_007122.4||1),upstream_gene_variant(MODIFIER||1787||251|USF1|protein_coding|CODING|NM_207005.2||1)","HUVEC:H3K27me3,GM12878:H3K27ac,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2975,0.2003,0.333,0.28,0.19,0.33,,,,,,,,,,,,,,,,
missense_variant,ARHGAP30,MISSENSE,NM_001025598.1:p.Pro625Arg/c.1874C>G,cCa/cGa,MODERATE,,,,,0.37(T),"0.002,0.003(B,B)",1.87(L),-1.0311(T),,chr1,161018937,161018937,G,C,het,"missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro625Arg/c.1874C>G|1101|ARHGAP30|protein_coding|CODING|NM_001025598.1|12|1),missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro477Arg/c.1430C>G|953|ARHGAP30|protein_coding|CODING|NM_001287600.1|11|1),missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro448Arg/c.1343C>G|924|ARHGAP30|protein_coding|CODING|NM_001287602.1|8|1),missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro625Arg/c.1874C>G|890|ARHGAP30|protein_coding|CODING|NM_181720.2|12|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,0.445478(N),1.000(N),"3.11,3.08,1.55(T,T,T)",0.0169(T),0.068,-0.716517,5.18,-10.4,-0.266000,-2.133000,-1.621000,0.004000,0.000000,0.000000,1.7568
missense_variant,ARHGAP30,MISSENSE,NM_001025598.1:p.Leu591Val/c.1771C>G,Ctg/Gtg,MODERATE,,0.395966,0.3333,rs3813609,0.67(T),"0.081,0.288(B,B)",1.845(L),-1.0321(T),,chr1,161019040,161019040,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu591Val/c.1771C>G|1101|ARHGAP30|protein_coding|CODING|NM_001025598.1|12|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu443Val/c.1327C>G|953|ARHGAP30|protein_coding|CODING|NM_001287600.1|11|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu414Val/c.1240C>G|924|ARHGAP30|protein_coding|CODING|NM_001287602.1|8|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu591Val/c.1771C>G|890|ARHGAP30|protein_coding|CODING|NM_181720.2|12|1)","GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4611,0.4654,0.6292,0.49,0.26,0.61,,0.937368(N),1.000(P),"2.92,2.84,1.31(T,T,T)",0.0259(T),0.074,1.009373,5.18,1.1,-0.266000,-0.047000,2.269000,0.941000,0.518000,0.983000,1.7083
missense_variant,PVRL4,MISSENSE,NM_030916.2:p.Pro104Thr/c.310C>A,Cca/Aca,MODERATE,,0.0385383,0,rs35434391,0.32(T),0.999(D),1.23(L),-1.1359(T),,chr1,161049509,161049509,G,T,hom,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro104Thr/c.310C>A|510|PVRL4|protein_coding|CODING|NM_030916.2|2|1),HepG2:H3K27me3,,,,0.0204,0.0476,0.1342,0.07,0.02,0.10,,0.000015(D),1.000(D),1.69(T),0.0811(T),0.207,3.435258,5.51,5.51,0.650000,2.574000,2.543000,0.508000,0.253000,0.983000,16.9215
missense_variant,KLHDC9,MISSENSE,NM_152366.4:p.Ser171Arg/c.511A>C,Agc/Cgc,MODERATE,COSM424364(3),0.239217,0.371,rs11576830,0.53(T),"0.001,0.0(B,B)",0.205(N),-1.0967(T),,chr1,161068836,161068836,A,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser171Arg/c.511A>C|288|KLHDC9|protein_coding|CODING|NM_001007255.2|1|1),missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser171Arg/c.511A>C|349|KLHDC9|protein_coding|CODING|NM_152366.4|1|1),downstream_gene_variant(MODIFIER||1510||154|PFDN2|protein_coding|CODING|NM_012394.3||1),non_coding_exon_variant(MODIFIER|||n.425A>C||KLHDC9||CODING|NR_033385.1|2|1),non_coding_exon_variant(MODIFIER|||n.425A>C||KLHDC9||CODING|NR_033386.1|2|1)","K562:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.1933,0.2968,0.339,0.22,0.09,0.28,,0.798341(N),1.000(P),"-0.8,-0.22(T,T)",0.0635(T),0.057,-0.756295,4.99,-7.07,-0.313000,-0.975000,-1.087000,0.021000,0.012000,0.000000,8.4665
missense_variant,ADAMTS4,MISSENSE,NM_005099.4:p.Gln626Arg/c.1877A>G,cAg/cGg,MODERATE,COSM424371(2),0.706869,0.8859,rs4233367,1(T),0.0(B),-1.815(N),-0.9619(T),,chr1,161163037,161163037,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln626Arg/c.1877A>G|837|ADAMTS4|protein_coding|CODING|NM_005099.4|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3",,,,0.7802,0.7089,0.6093,0.60,0.61,0.60,,0.040032(N),0.000(P),3.89(T),0.0007(T),0.033,-0.048557,4.81,1.94,-0.226000,0.011000,0.127000,0.933000,0.990000,0.000000,8.5312
missense_variant,ADAMTS4,MISSENSE,NM_005099.4:p.Ala77Thr/c.229G>A,Gcc/Acc,MODERATE,COSM1559884(1),0.0513179,0.0099,rs34448954,0.3(T),"0.003,0.084(B,B)",0(N),-0.9149(T),,chr1,161168189,161168189,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala77Thr/c.229G>A|837|ADAMTS4|protein_coding|CODING|NM_005099.4|1|1),upstream_gene_variant(MODIFIER||916||463|NDUFS2|protein_coding|CODING|NM_004550.4||1)","H1ESC:PolII,NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,HUVEC:H3K4me3,HUVEC:H3K9ac,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HMEC:H3K4me1,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.0992,0.0418,0.1113,0.07,0.02,0.10,,0.545706(N),1.000(N),"3.23,3.23(T,T)",0.0031(T),0.021,1.560306,5.48,-6.94,0.491000,-0.961000,-1.501000,0.828000,0.000000,0.000000,2.4191
missense_variant,NDUFS2,MISSENSE,NM_004550.4:p.Pro352Ala/c.1054C>G,Cct/Gct,MODERATE,COSM1579564(1),0.0493211,0.0099,rs11576415,0(D),"1.0,0.734,0.734(D,P,P)",3.06(M),0.9443(D),,chr1,161182208,161182208,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro352Ala/c.1054C>G|457|NDUFS2|protein_coding|CODING|NM_001166159.1|10|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro352Ala/c.1054C>G|463|NDUFS2|protein_coding|CODING|NM_004550.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117711.2,,0.0992,0.0317,0.1083,0.07,0.02,0.09,,0.000000(D),0.000(P),"-2.64,-2.64(D,D)",0.8647(D),0.242,4.634647,4.86,4.86,0.650000,2.412000,7.129000,0.991000,1.000000,1.000000,17.14
synonymous_variant,NR1I3,SILENT,NM_001077482.2:p.Pro180Pro/c.540C>T,ccC/ccT,LOW,COSM4142916(1),0.336262,0.5188,rs2307424,,,,,,chr1,161202605,161202605,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|340|NR1I3|protein_coding|CODING|NM_001077469.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro151Pro/c.453C>T|280|NR1I3|protein_coding|CODING|NM_001077470.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|309|NR1I3|protein_coding|CODING|NM_001077471.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro151Pro/c.453C>T|324|NR1I3|protein_coding|CODING|NM_001077472.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro151Pro/c.453C>T|315|NR1I3|protein_coding|CODING|NM_001077473.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|296|NR1I3|protein_coding|CODING|NM_001077474.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro151Pro/c.453C>T|267|NR1I3|protein_coding|CODING|NM_001077475.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro151Pro/c.453C>T|311|NR1I3|protein_coding|CODING|NM_001077476.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro151Pro/c.453C>T|306|NR1I3|protein_coding|CODING|NM_001077477.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|339|NR1I3|protein_coding|CODING|NM_001077478.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro151Pro/c.453C>T|319|NR1I3|protein_coding|CODING|NM_001077479.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|352|NR1I3|protein_coding|CODING|NM_001077480.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|314|NR1I3|protein_coding|CODING|NM_001077481.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|357|NR1I3|protein_coding|CODING|NM_001077482.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro180Pro/c.540C>T|348|NR1I3|protein_coding|CODING|NM_005122.4|5|1)",HepG2:H3K36me3,,,,0.453,0.3256,0.3489,0.27,0.14,0.33,,,,,,,,,,,,,,,,
missense_variant,FCGR2A,MISSENSE,NM_001136219.1:p.His167Arg/c.500A>G,cAt/cGt,MODERATE,COSM3997022(1),0.441693,0.2778,rs1801274,0.28(T),"0.002,0.001(B,B)",1.355(L),-0.9577(T),,chr1,161479745,161479745,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His167Arg/c.500A>G|317|FCGR2A|protein_coding|CODING|NM_001136219.1|4|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His166Arg/c.497A>G|316|FCGR2A|protein_coding|CODING|NM_021642.3|4|1)",K562:H3K36me3,"Inflammatory_bowel_disease,Kawasaki_disease,Ulcerative_colitis,Ulcerative_colitis",RCV000015946.2|RCV000015947.2|RCV000054529.1,,0.4192,0.451,0.5109,0.53,0.56,0.52,,0.000000(N),0.520(P),"2.78,2.78(T,T)",0.0076(T),0.061,0.019927,2.65,-4.15,-0.421000,-0.971000,-0.902000,0.002000,0.000000,0.000000,4.4985
synonymous_variant,HSPA6,SILENT,NM_002155.3:p.Thr343Thr/c.1029A>T,acA/acT,LOW,,,,rs72633678,,,,,,chr1,161495477,161495477,A,T,het,synonymous_variant(LOW|SILENT|acA/acT|p.Thr343Thr/c.1029A>T|643|HSPA6|protein_coding|CODING|NM_002155.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,CD4:PolII,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,0.65,0.67,0.65,,,,,,,,,,,,,,,,
synonymous_variant,HSPA6,SILENT,NM_002155.3:p.Thr479Thr/c.1437T>C,acT/acC,LOW,,0.801118,0.9117,rs404508,,,,,,chr1,161495885,161495885,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr479Thr/c.1437T>C|643|HSPA6|protein_coding|CODING|NM_002155.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,CD4:PolII,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7853,0.7233,0.7883,0.77,0.79,0.75,,,,,,,,,,,,,,,,
missense_variant,FCGR3A,MISSENSE,NM_000569.6:p.Phe212Val/c.634T>G,Ttt/Gtt,MODERATE,COSM4142919(1),,,rs396991,,,-0.22(N),-0.9156(T),,chr1,161514542,161514542,A,C,het,"missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe212Val/c.634T>G|290|FCGR3A|protein_coding|CODING|NM_000569.6|4|1),missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe211Val/c.631T>G|289|FCGR3A|protein_coding|CODING|NM_001127592.1|4|1),missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe176Val/c.526T>G|254|FCGR3A|protein_coding|CODING|NM_001127593.1|5|1),missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe176Val/c.526T>G|254|FCGR3A|protein_coding|CODING|NM_001127595.1|5|1),missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe175Val/c.523T>G|253|FCGR3A|protein_coding|CODING|NM_001127596.1|5|1)","HUVEC:H3K27me3,K562:H3K4me1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.27,0.26,0.28,,0.033707(N),1.000(P),,0.0033(T),.,0.853189,5.03,-0.103,-5.115000,-0.464000,-0.208000,0.003000,0.001000,0.000000,0.3561
splice_acceptor_variant,FCGR2C,protein_coding,NM_201563.5:c.799C>G,,HIGH,,0.741414,0.6766,rs430178,,,,,FCGR2C:0.50(2);,chr1,161569419,161569419,C,G,het,"splice_acceptor_variant(HIGH|||c.799C>G|323|FCGR2C|protein_coding|CODING|NM_201563.5|7|1),splice_acceptor_variant(HIGH|||n.898C>G||FCGR2C||CODING|NR_047648.1|7|1),intron_variant(MODIFIER|||c.799-1C>G|323|FCGR2C|protein_coding|CODING|NM_201563.5|6|1),intron_variant(MODIFIER|||n.898-1C>G||FCGR2C||CODING|NR_047648.1|6|1)",HUVEC:H3K27me3,,,,0.7597,0.8012,0.7763,,,,,,,,,,,,,,,,,,,
missense_variant,FCGR3B,MISSENSE,NM_001244753.1:p.Asn101Ser/c.302A>G,aAc/aGc,MODERATE,COSM3997023(6),0.532947,0.3383,rs448740,0.94(T),,,-0.9254(T),,chr1,161599693,161599693,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn100Ser/c.299A>G|268|FCGR3B|protein_coding|CODING|NM_001271035.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn65Ser/c.194A>G|233|FCGR3B|protein_coding|CODING|NM_000570.4|4|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn101Ser/c.302A>G|269|FCGR3B|protein_coding|CODING|NM_001244753.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn48Ser/c.143A>G|216|FCGR3B|protein_coding|CODING|NM_001271036.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn48Ser/c.143A>G|130|FCGR3B|protein_coding|CODING|NM_001271037.1|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000030607.1,,0.5941,0.4827,0.664,,,,,,1.000(P),"2.75,2.75,2.75,2.75(T,T,T,T)",0.0027(T),0.033,-1.191278,2.79,-2.58,-0.631000,-0.657000,-4.948000,0.202000,0.000000,0.000000,5.2778
synonymous_variant,FCGR2B,SILENT,NM_004001.4:p.Thr112Thr/c.336G>A,acG/acA,LOW,COSM3747577(1),0.138179,0.0595,rs6665610,,,,,,chr1,161641384,161641384,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr112Thr/c.336G>A|291|FCGR2B|protein_coding|CODING|NM_001002274.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr105Thr/c.315G>A|303|FCGR2B|protein_coding|CODING|NM_001190828.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr112Thr/c.336G>A|310|FCGR2B|protein_coding|CODING|NM_004001.4|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr111Thr/c.333G>A|290|FCGR2B|protein_coding|CODING|NM_001002273.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr111Thr/c.333G>A|309|FCGR2B|protein_coding|CODING|NM_001002275.2|3|1)","K562:PolII,GM12878:H3K36me3,K562:Znf263,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1196,0.1066,0.1998,0.18,0.16,0.19,,,,,,,,,,,,,,,,
synonymous_variant,FCRLA,SILENT,NM_001184866.1:p.Ser231Ser/c.693C>T,tcC/tcT,LOW,COSM3997029(1),0.0313498,0.0645,rs4301614,,,,,,chr1,161681848,161681848,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser231Ser/c.693C>T|382|FCRLA|protein_coding|CODING|NM_001184866.1|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser136Ser/c.408C>T|287|FCRLA|protein_coding|CODING|NM_001184867.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser91Ser/c.273C>T|242|FCRLA|protein_coding|CODING|NM_001184870.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser85Ser/c.255C>T|236|FCRLA|protein_coding|CODING|NM_001184872.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser225Ser/c.675C>T|376|FCRLA|protein_coding|CODING|NM_032738.3|4|1),intron_variant(MODIFIER|||c.131-1027C>T|141|FCRLA|protein_coding|CODING|NM_001184871.1|1|1),intron_variant(MODIFIER|||c.284-1027C>T|192|FCRLA|protein_coding|CODING|NM_001184873.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0307,0.0144,0.0497,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FCRLB,SILENT,NM_001002901.3:p.Ala112Ala/c.336G>T,gcG/gcT,LOW,COSM4142926(1),0.927716,1,rs7520519,,,,,,chr1,161695639,161695639,G,T,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala112Ala/c.336G>T|426|FCRLB|protein_coding|CODING|NM_001002901.3|6|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala112Ala/c.336G>T|318|FCRLB|protein_coding|CODING|NM_001288829.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala105Ala/c.315G>T|311|FCRLB|protein_coding|CODING|NM_001288830.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala112Ala/c.336G>T|275|FCRLB|protein_coding|CODING|NM_001288831.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala105Ala/c.315G>T|268|FCRLB|protein_coding|CODING|NM_001288832.1|3|1)","CD4:H3K9me1,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8139,0.9352,0.8797,0.90,0.97,0.87,,,,,,,,,,,,,,,,
missense_variant,ATF6,MISSENSE,NM_007348.3:p.Met67Val/c.199A>G,Atg/Gtg,MODERATE,COSM3750535(2),0.166933,0.2629,rs1058405,0.31(T),0.039(B),1.67(L),-1.0426(T),,chr1,161751741,161751741,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met67Val/c.199A>G|670|ATF6|protein_coding|CODING|NM_007348.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1677,0.17,0.2724,0.21,0.06,0.29,,0.000000(D),0.046(P),2.55(T),0.0144(T),0.322,1.019228,5.04,3.83,0.454000,2.023000,2.129000,0.997000,1.000000,1.000000,8.4476
synonymous_variant,ATF6,SILENT,NM_007348.3:p.Ser632Ser/c.1896A>G,tcA/tcG,LOW,,0.558706,0.506,rs9482,,,,,,chr1,161928327,161928327,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser632Ser/c.1896A>G|670|ATF6|protein_coding|CODING|NM_007348.3|16|1),"NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.6258,0.4928,0.7763,0.65,0.46,0.75,,,,,,,,,,,,,,,,
missense_variant,OLFML2B,MISSENSE,NM_001297713.1:p.Pro290Leu/c.869C>T,cCg/cTg,MODERATE,,0.0183706,0,rs4656343,0.5(T),"0.001,0.003(B,B)",0.345(N),-1.0010(T),,chr1,161969986,161969986,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro289Leu/c.866C>T|750|OLFML2B|protein_coding|CODING|NM_015441.2|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro290Leu/c.869C>T|751|OLFML2B|protein_coding|CODING|NM_001297713.1|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.0031,0.0259,0.0676,0.04,0.01,0.06,,,0.667(N),"1.17,1.17(T,T)",0.0185(T),0.087,2.365212,5.22,3.33,0.561000,0.572000,1.712000,0.936000,0.017000,0.860000,9.0682
synonymous_variant,OLFML2B,SILENT,NM_001297713.1:p.Asn192Asn/c.576T>C,aaT/aaC,LOW,,0.590655,0.4583,rs12022536,,,,,,chr1,161976234,161976234,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn192Asn/c.576T>C|751|OLFML2B|protein_coding|CODING|NM_001297713.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn192Asn/c.576T>C|750|OLFML2B|protein_coding|CODING|NM_015441.2|4|1)","HUVEC:H3K27me3,HSMM:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5491,0.7925,0.8201,0.72,0.51,0.82,,,,,,,,,,,,,,,,
synonymous_variant,C1orf111,SILENT,NM_182581.3:p.Arg174Arg/c.522G>A,agG/agA,LOW,,0.340455,0.5089,rs2282397,,,,,,chr1,162344102,162344102,C,T,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg174Arg/c.522G>A|261|C1orf111|protein_coding|CODING|NM_182581.3|3|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,HeLa-S3:PolII,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3057,0.4222,0.3817,0.32,0.22,0.38,,,,,,,,,,,,,,,,
synonymous_variant,C1orf111,SILENT,NM_182581.3:p.Asp78Asp/c.234T>C,gaT/gaC,LOW,,0.996206,1,rs164159,,,,,,chr1,162344390,162344390,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp78Asp/c.234T>C|261|C1orf111|protein_coding|CODING|NM_182581.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9971,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,C1orf111,MISSENSE,NM_182581.3:p.Ala69Val/c.206C>T,gCg/gTg,MODERATE,,0.938498,1,rs164181,1(T),0.0(B),-1.95(N),-0.9543(T),,chr1,162345091,162345091,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala69Val/c.206C>T|261|C1orf111|protein_coding|CODING|NM_182581.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9918,0.9755,0.998,0.94,0.82,1.00,,0.431218(N),1.000(P),1.6(T),0.0046(T),0.024,-1.513186,4.81,1.25,-1.811000,-0.182000,-0.090000,0.001000,0.000000,0.000000,7.416
stop_retained_variant,SH2D1B,SILENT,NM_053282.4:p.Ter133Ter/c.398G>A,tGa/tAa,LOW,COSM4142932(1),0.307308,0.2063,rs17852003,,,,,,chr1,162367071,162367071,C,T,het,stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter133Ter/c.398G>A|132|SH2D1B|protein_coding|CODING|NM_053282.4|4|1),"K562:ZBTB7A,HUVEC:H3K27me3,K562:CTCF,HeLa-S3:CTCF,NHEK:H3K27me3,K562:Rad21,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K27me3,K562:SP1,K562:DNase1",,,,0.2301,0.2925,0.3171,0.34,0.41,0.30,,,,,,,,,,,,,,,,
synonymous_variant,DDR2,SILENT,NM_001014796.1:p.Leu420Leu/c.1260C>G,ctC/ctG,LOW,COSM3997042(1),0.348442,0.4077,rs2298258,0(D),,,-0.5522(T),,chr1,162737116,162737116,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu420Leu/c.1260C>G|855|DDR2|protein_coding|CODING|NM_001014796.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu420Leu/c.1260C>G|855|DDR2|protein_coding|CODING|NM_006182.2|11|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.2843,0.353,0.1461,0.26,0.47,0.15,,0.000000(D),0.718(P),-0.83(T),0.2891(T),.,1.118647,5.79,1.65,0.655000,0.034000,0.218000,0.995000,0.998000,0.991000,9.3142
missense_variant,C1orf110,MISSENSE,NM_178550.4:p.Arg93Ser/c.279G>T,agG/agT,MODERATE,COSM3750540(1),0.0840655,0.001,rs77227460,0.2(T),"0.015,0.015(B,B)",0.69(N),-1.0393(T),,chr1,162825457,162825457,C,A,het,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg93Ser/c.279G>T|302|C1orf110|protein_coding|CODING|NM_178550.4|3|1),"HUVEC:H3K9ac,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HUVEC:H3K4me2,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3,NHEK:DNase1",,,,0.0624,0.1167,0.1948,0.16,0.07,0.20,,0.895798(N),1.000(N),,0.0183(T),0.059,0.889379,4.33,-8.67,-1.099000,-2.256000,-2.208000,0.001000,0.000000,0.000000,4.4614
synonymous_variant,NUF2,SILENT,NM_031423.3:p.Gly186Gly/c.558A>T,ggA/ggT,LOW,,0.428514,0.3512,rs1509022,,,,,,chr1,163309219,163309219,A,T,het,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly186Gly/c.558A>T|464|NUF2|protein_coding|CODING|NM_031423.3|8|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly186Gly/c.558A>T|464|NUF2|protein_coding|CODING|NM_145697.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6411,0.4352,0.4374,0.42,0.34,0.45,,,,,,,,,,,,,,,,
missense_variant,PBX1,MISSENSE,NM_002585.3:p.Gly21Ser/c.61G>A,Ggc/Agc,MODERATE,COSM1335879(1),0.307308,0.6101,rs2275558,0.43(T),"0.006,0.025,0.004(B,B,B)",1.4(L),-0.5024(T),,chr1,164529120,164529120,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly21Ser/c.61G>A|347|PBX1|protein_coding|CODING|NM_001204961.1|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly21Ser/c.61G>A|420|PBX1|protein_coding|CODING|NM_001204963.1|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly21Ser/c.61G>A|430|PBX1|protein_coding|CODING|NM_002585.3|1|1)","HeLa-S3:DNase1,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,IMR90:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4151,0.4308,0.1968,0.14,0.04,0.19,,0.000005(D),1.000(N),"0.79,-2.51,-2.43,-2.55,-2.43(T,D,D,D,D)",0.3289(T),0.242,1.858419,5.18,5.18,0.561000,2.409000,7.826000,0.200000,1.000000,1.000000,11.0309
synonymous_variant,LMX1A,SILENT,NM_001174069.1:p.Asp350Asp/c.1050T>C,gaT/gaC,LOW,,0.998802,1,rs1354509,,,,,,chr1,165173216,165173216,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp350Asp/c.1050T>C|382|LMX1A|protein_coding|CODING|NM_001174069.1|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp350Asp/c.1050T>C|382|LMX1A|protein_coding|CODING|NM_177398.3|9|1)",,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RXRG,SILENT,NM_006917.4:p.Val350Val/c.1050C>T,gtC/gtT,LOW,,0.478834,0.5079,rs2134095,,,,,,chr1,165377552,165377552,G,A,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val227Val/c.681C>T|340|RXRG|protein_coding|CODING|NM_001256570.1|9|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val227Val/c.681C>T|340|RXRG|protein_coding|CODING|NM_001256571.1|7|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val350Val/c.1050C>T|463|RXRG|protein_coding|CODING|NM_006917.4|8|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.502,0.6023,0.671,0.55,0.31,0.68,,,,,,,,,,,,,,,,
synonymous_variant,RXRG,SILENT,NM_006917.4:p.Ala140Ala/c.420C>T,gcC/gcT,LOW,COSM3750549(1),0.227436,0.122,rs1128977,,,,,,chr1,165389129,165389129,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala17Ala/c.51C>T|340|RXRG|protein_coding|CODING|NM_001256570.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala17Ala/c.51C>T|340|RXRG|protein_coding|CODING|NM_001256571.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala140Ala/c.420C>T|463|RXRG|protein_coding|CODING|NM_006917.4|3|1)","GM12878:H3K27me3,K562:H3K27me3",,,,0.3436,0.2637,0.3996,0.30,0.12,0.39,,,,,,,,,,,,,,,,
missense_variant,LRRC52,MISSENSE,NM_001005214.3:p.Asp209Glu/c.627T>A,gaT/gaA,MODERATE,,0.0585064,0,rs17407838,1(T),0.0(B),0(N),-1.0455(T),,chr1,165532746,165532746,T,A,het,"missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp209Glu/c.627T>A|313|LRRC52|protein_coding|CODING|NM_001005214.3|2|1),intron_variant(MODIFIER|||n.908+10509A>T||LOC400794||NON_CODING|NR_026744.1|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0133,0.062,0.1034,0.10,0.09,0.11,,0.101883(N),0.994(P),-0.12(T),0.0182(T),0.02,-2.043824,4.28,-8.56,-1.123000,-3.350000,-4.590000,0.400000,0.000000,0.000000,4.7372
synonymous_variant,LRRC52,SILENT,NM_001005214.3:p.Arg296Arg/c.886C>A,Cgg/Agg,LOW,COSM1335909(1),0.319489,0.2282,rs453717,,,,,,chr1,165533005,165533005,C,A,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg296Arg/c.886C>A|313|LRRC52|protein_coding|CODING|NM_001005214.3|2|1),intron_variant(MODIFIER|||n.908+10250G>T||LOC400794||NON_CODING|NR_026744.1|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.3681,0.2954,0.3052,0.31,0.34,0.29,,,,,,,,,,,,,,,,
synonymous_variant,ALDH9A1,SILENT,NM_000696.3:p.Ile134Ile/c.402T>C,atT/atC,LOW,,0.746206,0.9881,rs1143659,,,,,,chr1,165652273,165652273,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile134Ile/c.402T>C|518|ALDH9A1|protein_coding|CODING|NM_000696.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7781,0.7723,0.6372,0.65,0.63,0.66,,,,,,,,,,,,,,,,
synonymous_variant,POGK,SILENT,NM_017542.3:p.Ala250Ala/c.750A>G,gcA/gcG,LOW,,0.276757,0.5565,rs2075946,,,,,,chr1,166818566,166818566,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala250Ala/c.750A>G|609|POGK|protein_coding|CODING|NM_017542.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3507,0.17,0.162,0.18,0.17,0.19,,,,,,,,,,,,,,,,
synonymous_variant,MAEL,SILENT,NM_032858.2:p.Arg4Arg/c.12T>C,cgT/cgC,LOW,COSM3750550(1),0.301917,0.247,rs2296837,,,,,,chr1,166958601,166958601,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg4Arg/c.12T>C|403|MAEL|protein_coding|CODING|NM_001286377.1|1|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg4Arg/c.12T>C|434|MAEL|protein_coding|CODING|NM_032858.2|1|1),intron_variant(MODIFIER|||c.-120-37T>C|378|MAEL|protein_coding|CODING|NM_001286378.1|1|1)","GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3",,,,0.183,0.1715,0.2247,0.34,0.52,0.25,,,,,,,,,,,,,,,,
missense_variant,MAEL,MISSENSE,NM_032858.2:p.Ser41Ala/c.121T>G,Tca/Gca,MODERATE,COSM424473(1),0.248602,0.248,rs11578336,0.81(T),"0.0,0.001(B,B)",-0.55(N),-0.9685(T),,chr1,166958710,166958710,T,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser41Ala/c.121T>G|403|MAEL|protein_coding|CODING|NM_001286377.1|1|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser41Ala/c.121T>G|434|MAEL|protein_coding|CODING|NM_032858.2|1|1),5_prime_UTR_variant(MODIFIER||300|c.-48T>G|378|MAEL|protein_coding|CODING|NM_001286378.1|2|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.183,0.1513,0.2256,0.28,0.36,0.25,,0.089278(N),1.000(P),"1.02,2.53,2.53(T,T,T)",0.0130(T),0.082,-2.240398,5.49,2.46,-2.444000,0.429000,-0.371000,0.016000,0.011000,0.000000,9.1724
missense_variant,DUSP27,MISSENSE,NM_001080426.1:p.Glu265Asp/c.795G>C,gaG/gaC,MODERATE,COSM4142988(1),0.641973,0.872,rs267745,1(T),0.001(B),-0.16(N),-0.9829(T),,chr1,167095163,167095163,G,C,hom,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu265Asp/c.795G>C|1158|DUSP27|protein_coding|CODING|NM_001080426.1|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3732,0.4597,0.4751,0.60,0.83,0.48,,0.003677(N),1.000(P),"-1.99,-1.99,-1.99(D,D,D)",0.0763(T),0.054,-0.290557,5.55,-4.59,-0.756000,-0.793000,-2.213000,0.967000,0.815000,0.000000,2.8034
missense_variant,DUSP27,MISSENSE,NM_001080426.1:p.Lys855Gln/c.2563A>C,Aaa/Caa,MODERATE,COSM3750553(1),0.202875,0.127,rs267746,0.71(T),0.009(B),1.24(L),-0.9571(T),,chr1,167096931,167096931,A,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys855Gln/c.2563A>C|1158|DUSP27|protein_coding|CODING|NM_001080426.1|5|1),"GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0849,0.1398,0.16,0.24,0.38,0.17,,0.002580(N),0.756(P),"4.0,4.0,4.0(T,T,T)",0.0038(T),0.047,-0.587281,5.47,2.98,-0.485000,0.873000,2.360000,0.162000,0.985000,0.999000,12.2843
missense_variant,DUSP27,MISSENSE,NM_001080426.1:p.Asp1067Asn/c.3199G>A,Gac/Aac,MODERATE,COSM3750554(1),0.0527157,0.001,rs61748784,0.04(D),0.002(B),1.95(M),-1.0189(T),,chr1,167097567,167097567,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp1067Asn/c.3199G>A|1158|DUSP27|protein_coding|CODING|NM_001080426.1|5|1),"GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.044,0.0965,0.1441,0.10,0.03,0.14,,0.001750(N),1.000(P),"3.94,3.94,3.94(T,T,T)",0.0063(T),0.006,0.281911,5.29,4.38,0.549000,1.223000,0.856000,0.084000,0.973000,0.191000,8.7774
missense_variant,DUSP27,MISSENSE,NM_001080426.1:p.Thr1124Asn/c.3371C>A,aCt/aAt,MODERATE,COSM3750555(1),0.382188,0.7431,rs2281959,0(D),0.002(B),1.95(M),-0.9882(T),,chr1,167097739,167097739,C,A,het,missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr1124Asn/c.3371C>A|1158|DUSP27|protein_coding|CODING|NM_001080426.1|5|1),"GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2894,0.2867,0.3141,0.30,0.28,0.31,,0.061703(N),1.000(P),"3.88,3.88,3.88(T,T,T)",0.0049(T),0.021,0.231340,5.4,0.916,-0.335000,0.198000,0.036000,0.335000,0.363000,0.002000,4.6731
synonymous_variant,RCSD1,SILENT,NM_052862.3:p.Ala137Ala/c.411A>G,gcA/gcG,LOW,,0.00579073,0.001,rs7554805,,,,,,chr1,167663476,167663476,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala137Ala/c.411A>G|416|RCSD1|protein_coding|CODING|NM_052862.3|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0041,0.0029,0.0209,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,ADCY10,SILENT,NM_018417.5:p.Gly799Gly/c.2397T>C,ggT/ggC,LOW,COSM424500(2),0.822085,0.8571,rs203795,,,,,,chr1,167817639,167817639,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly646Gly/c.1938T>C|1457|ADCY10|protein_coding|CODING|NM_001167749.2|16|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly707Gly/c.2121T>C|1518|ADCY10|protein_coding|CODING|NM_001297772.1|19|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly799Gly/c.2397T>C|1610|ADCY10|protein_coding|CODING|NM_018417.5|19|1)",,,,,0.7413,0.8372,0.7137,0.77,0.90,0.71,,,,,,,,,,,,,,,,
missense_variant,ADCY10,MISSENSE,NM_018417.5:p.Ile697Val/c.2089A>G,Att/Gtt,MODERATE,COSM3750558(1),0.504593,0.7113,rs2071921,0.18(T),"0.001,0.001,0.0(B,B,B)",1.445(L),-1.0148(T),,chr1,167825485,167825485,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile544Val/c.1630A>G|1457|ADCY10|protein_coding|CODING|NM_001167749.2|14|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile605Val/c.1813A>G|1518|ADCY10|protein_coding|CODING|NM_001297772.1|17|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile697Val/c.2089A>G|1610|ADCY10|protein_coding|CODING|NM_018417.5|17|1)",,,,,0.3988,0.5749,0.4105,0.42,0.46,0.40,,0.228103(N),1.000(P),"1.41,1.41,1.41(T,T,T)",0.0235(T),0.037,-0.749259,5.16,-2.43,-2.765000,-0.260000,0.086000,0.000000,0.000000,0.005000,8.8481
synonymous_variant,ADCY10,SILENT,NM_018417.5:p.Phe656Phe/c.1968T>C,ttT/ttC,LOW,,0.208267,0.4177,rs2071922,,,,,,chr1,167825606,167825606,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe503Phe/c.1509T>C|1457|ADCY10|protein_coding|CODING|NM_001167749.2|14|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe564Phe/c.1692T>C|1518|ADCY10|protein_coding|CODING|NM_001297772.1|17|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe656Phe/c.1968T>C|1610|ADCY10|protein_coding|CODING|NM_018417.5|17|1)",,,,,0.2076,0.2752,0.1272,0.11,0.09,0.11,,,,,,,,,,,,,,,,
synonymous_variant,ADCY10,SILENT,NM_018417.5:p.Val511Val/c.1533C>T,gtC/gtT,LOW,COSM1559273(2),0.125599,0.126,rs67878347,,,,,,chr1,167839578,167839578,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val358Val/c.1074C>T|1457|ADCY10|protein_coding|CODING|NM_001167749.2|11|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val419Val/c.1257C>T|1518|ADCY10|protein_coding|CODING|NM_001297772.1|14|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val511Val/c.1533C>T|1610|ADCY10|protein_coding|CODING|NM_018417.5|14|1)",,,,,0.0992,0.2161,0.2068,0.16,0.07,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ADCY10,SILENT,NM_018417.5:p.Gly385Gly/c.1155T>C,ggT/ggC,LOW,COSM146675(1),0.493211,0.3224,rs203849,,,,,,chr1,167849414,167849414,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly232Gly/c.696T>C|1457|ADCY10|protein_coding|CODING|NM_001167749.2|8|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly293Gly/c.879T>C|1518|ADCY10|protein_coding|CODING|NM_001297772.1|11|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly385Gly/c.1155T>C|1610|ADCY10|protein_coding|CODING|NM_018417.5|11|1)","K562:H3K4me1,K562:H3K36me3,HepG2:H3K27me3",,,,0.4448,0.4597,0.504,0.53,0.64,0.48,,,,,,,,,,,,,,,,
synonymous_variant,MPC2,SILENT,NM_001143674.3:p.Phe42Phe/c.126C>T,ttC/ttT,LOW,COSM1336022(3),0.40655,0.1806,rs386554065,,,,,,chr1,167893759,167893759,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe42Phe/c.126C>T|127|MPC2|protein_coding|CODING|NM_001143674.3|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe42Phe/c.126C>T|127|MPC2|protein_coding|CODING|NM_015415.3|3|1),non_coding_exon_variant(MODIFIER|||n.486C>T||MPC2||CODING|NR_026550.2|2|1)","K562:H3K27ac,K562:H3K36me3,K562:H3K9ac,HepG2:H3K36me3,K562:DNase1",,,,0.2423,0.5202,0.3519,0.42,0.60,0.33,,,,,,,,,,,,,,,,
synonymous_variant,DCAF6,SILENT,NM_001198956.1:p.Arg30Arg/c.90A>C,cgA/cgC,LOW,COSM4142997(2),1,1,rs203788,,,,,,chr1,167906239,167906239,A,C,hom,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg30Arg/c.90A>C|860|DCAF6|protein_coding|CODING|NM_001017977.2|1|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg30Arg/c.90A>C|951|DCAF6|protein_coding|CODING|NM_001198956.1|1|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg30Arg/c.90A>C|920|DCAF6|protein_coding|CODING|NM_001198957.1|1|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg30Arg/c.90A>C|880|DCAF6|protein_coding|CODING|NM_018442.3|1|1),5_prime_UTR_variant(MODIFIER||1160|c.-120T>G|127|MPC2|protein_coding|CODING|NM_001143674.3|1|1),upstream_gene_variant(MODIFIER||800|||MPC2||CODING|NR_026550.2||1),intron_variant(MODIFIER|||c.-58+4T>G|127|MPC2|protein_coding|CODING|NM_015415.3|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,GM12878:ZEB1,NH-A:H3K27ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,DCAF6,MISSENSE,NM_001198956.1:p.Cys58Tyr/c.173G>A,tGt/tAt,MODERATE,,0.000199681,0,rs146895084,0.14(T),"0.955,0.666,0.875(D,P,P)",2.82(M),-0.3351(T),,chr1,167935880,167935880,G,A,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys58Tyr/c.173G>A|860|DCAF6|protein_coding|CODING|NM_001017977.2|3|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys58Tyr/c.173G>A|951|DCAF6|protein_coding|CODING|NM_001198956.1|3|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys58Tyr/c.173G>A|880|DCAF6|protein_coding|CODING|NM_018442.3|3|1),intron_variant(MODIFIER|||c.160-8188G>A|920|DCAF6|protein_coding|CODING|NM_001198957.1|2|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.001075(N),1.000(D),"0.17,0.17,0.17(T,T,T)",0.3453(T),0.925,2.947353,5.4,5.4,0.544000,2.550000,4.132000,0.980000,1.000000,1.000000,14.7526
synonymous_variant,DCAF6,SILENT,NM_001198956.1:p.Asp441Asp/c.1323C>T,gaC/gaT,LOW,,0.167931,0.1339,rs1060041,,,,,,chr1,167973976,167973976,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp441Asp/c.1323C>T|860|DCAF6|protein_coding|CODING|NM_001017977.2|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp441Asp/c.1323C>T|951|DCAF6|protein_coding|CODING|NM_001198956.1|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp410Asp/c.1230C>T|920|DCAF6|protein_coding|CODING|NM_001198957.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp441Asp/c.1323C>T|880|DCAF6|protein_coding|CODING|NM_018442.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1595,0.3876,0.2266,0.19,0.09,0.24,,,,,,,,,,,,,,,,
missense_variant,DCAF6,MISSENSE,NM_001198956.1:p.Val624Ala/c.1871T>C,gTg/gCg,MODERATE,COSM3750561(1),0.184505,0.2044,rs11558511,0.84(T),"0.002,0.002,0.002,0.002(B,B,B,B)",-0.345(N),-0.9781(T),,chr1,168013850,168013850,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val547Ala/c.1640T>C|860|DCAF6|protein_coding|CODING|NM_001017977.2|13|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val624Ala/c.1871T>C|951|DCAF6|protein_coding|CODING|NM_001198956.1|15|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val593Ala/c.1778T>C|920|DCAF6|protein_coding|CODING|NM_001198957.1|14|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val567Ala/c.1700T>C|880|DCAF6|protein_coding|CODING|NM_018442.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.272,0.1383,0.2823,0.21,0.09,0.27,,0.597043(N),1.000(P),"1.48,1.48,1.48,1.48(T,T,T,T)",0.0084(T),0.09,-0.054977,4.91,2.53,0.533000,0.704000,-0.106000,0.932000,0.895000,0.002000,2.2628
synonymous_variant,GPR161,SILENT,NM_001267609.1:p.Gly400Gly/c.1200T>C,ggT/ggC,LOW,COSM424503(3),0.320487,0.1518,rs275149,,,,,,chr1,168059866,168059866,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly400Gly/c.1200T>C|549|GPR161|protein_coding|CODING|NM_001267609.1|5|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly380Gly/c.1140T>C|529|GPR161|protein_coding|CODING|NM_001267610.1|5|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly397Gly/c.1191T>C|546|GPR161|protein_coding|CODING|NM_001267611.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly248Gly/c.744T>C|397|GPR161|protein_coding|CODING|NM_001267612.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly302Gly/c.906T>C|451|GPR161|protein_coding|CODING|NM_001267613.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly266Gly/c.798T>C|415|GPR161|protein_coding|CODING|NM_001267614.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly380Gly/c.1140T>C|529|GPR161|protein_coding|CODING|NM_153832.2|6|1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2147,0.4063,0.2634,0.43,0.62,0.34,,,,,,,,,,,,,,,,
synonymous_variant,XCL1,SILENT,NM_002995.2:p.Pro41Pro/c.123G>A,ccG/ccA,LOW,,0.0159744,0.0169,rs149760054,,,,,,chr1,168549362,168549362,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro41Pro/c.123G>A|114|XCL1|protein_coding|CODING|NM_002995.2|2|1),"GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.0215,0.0115,0.0229,0.01,0.01,0.01,,,,,,,,,,,,,,,,
synonymous_variant,DPT,SILENT,NM_001937.4:p.Thr80Thr/c.240G>A,acG/acA,LOW,COSM1560468(3),0.317492,0.1637,rs1052591,,,,,,chr1,168698173,168698173,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr80Thr/c.240G>A|201|DPT|protein_coding|CODING|NM_001937.4|1|1),HepG2:H3K27me3,,,,0.3661,0.3141,0.5129,0.47,0.33,0.54,,,,,,,,,,,,,,,,
synonymous_variant,NME7,SILENT,NM_013330.4:p.Phe7Phe/c.21C>T,ttC/ttT,LOW,,0.227037,0.0238,rs1140523,,,,,,chr1,169293721,169293721,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe7Phe/c.21C>T|376|NME7|protein_coding|CODING|NM_013330.4|2|1),intron_variant(MODIFIER|||c.-74-14C>T|340|NME7|protein_coding|CODING|NM_197972.2|1|1),non_coding_exon_variant(MODIFIER|||n.274C>T||NME7||CODING|NR_104229.1|2|1)",,,,,0.1759,0.389,0.4394,0.36,0.23,0.43,,,,,,,,,,,,,,,,
missense_variant,CCDC181,MISSENSE,NM_001300969.1:p.Phe172Ser/c.515T>C,tTt/tCt,MODERATE,,0.688898,0.9236,rs3820059,0.49(T),"0.001,0.0,0.0(B,B,B)",0(N),-0.9353(T),,chr1,169391154,169391154,A,G,het,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe172Ser/c.515T>C|508|CCDC181|protein_coding|CODING|NM_001300968.1|4|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe172Ser/c.515T>C|509|CCDC181|protein_coding|CODING|NM_001300969.1|3|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe172Ser/c.515T>C|508|CCDC181|protein_coding|CODING|NM_021179.2|3|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.5102,0.7176,0.669,0.64,0.64,0.65,,0.759632(N),1.000(P),"2.12,2.12,2.12,2.11(T,T,T,T)",0.0071(T),0.06,-2.535484,5.24,1.67,-1.625000,0.026000,0.118000,0.002000,0.007000,0.000000,2.0448
missense_variant,F5,MISSENSE,NM_000130.4:p.Met1764Val/c.5290A>G,Atg/Gtg,MODERATE,COSM4143006(1),0.308706,0.2837,rs6030,1(T),0.0(B),-0.345(N),-0.4336(T),,chr1,169498975,169498975,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1764Val/c.5290A>G|2224|F5|protein_coding|CODING|NM_000130.4|16|1),"NHEK:H3K27ac,HeLa-S3:DNase1,H1ESC:H3K27ac,HepG2:H3K36me3,NHEK:H3K4me2,HMEC:DNase1",Uric_acid_levels,,,0.3875,0.4885,0.3111,0.29,0.20,0.34,,0.799742(N),1.000(P),"-5.02,-5.02(D,D)",0.4329(T),0.037,-1.433840,5.32,-2.86,-0.226000,-0.913000,-2.414000,0.981000,0.189000,0.000000,3.2522
synonymous_variant,F5,SILENT,NM_000130.4:p.Leu1316Leu/c.3948C>T,ctC/ctT,LOW,COSM3997060(2),0.263578,0.248,rs9287090,,,,,,chr1,169510380,169510380,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1316Leu/c.3948C>T|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3211,0.3948,0.2535,0.24,0.19,0.27,,,,,,,,,,,,,,,,
synonymous_variant,F5,SILENT,NM_000130.4:p.Ser1268Ser/c.3804T>C,tcT/tcC,LOW,COSM4140933(2),0.309505,0.2808,rs1800594,,,,,,chr1,169510524,169510524,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1268Ser/c.3804T>C|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3855,0.487,0.3151,0.28,0.19,0.33,,,,,,,,,,,,,,,,
missense_variant,F5,MISSENSE,NM_000130.4:p.Lys925Glu/c.2773A>G,Aag/Gag,MODERATE,COSM3997061(2),0.26278,0.248,rs6032,1(T),0.001(B),0.14(N),-0.9030(T),,chr1,169511555,169511555,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys925Glu/c.2773A>G|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3221,0.3948,0.2535,0.24,0.18,0.27,,0.884318(N),1.000(P),"2.24,2.24(T,T)",0.0065(T),0.03,-0.406537,5.11,-5.14,-1.306000,-1.326000,-0.987000,0.092000,0.002000,0.000000,17.3504
missense_variant,F5,MISSENSE,NM_000130.4:p.His865Arg/c.2594A>G,cAt/cGt,MODERATE,COSM3747584(4),0.26278,0.248,rs4525,0.4(T),0.0(B),1.32(L),-0.9711(T),,chr1,169511734,169511734,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His865Arg/c.2594A>G|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3221,0.3948,0.2535,0.24,0.18,0.27,,0.464508(N),1.000(P),"2.12,2.12(T,T)",0.0138(T),0.02,0.270076,5.72,-1.12,-0.351000,-0.449000,-0.167000,0.013000,0.000000,0.000000,5.176
missense_variant,F5,MISSENSE,NM_000130.4:p.Lys858Arg/c.2573A>G,aAa/aGa,MODERATE,COSM3750564(3),0.266773,0.248,rs386593571,0.54(T),0.0(B),-0.805(N),-0.9096(T),,chr1,169511755,169511755,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys858Arg/c.2573A>G|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3425,0.3948,0.2535,0.24,0.18,0.27,,0.635169(N),1.000(P),"2.17,2.17(T,T)",0.0049(T),0.022,-0.986145,5.34,-1.7,-1.534000,-0.097000,-0.454000,0.001000,0.000000,0.000000,5.1617
synonymous_variant,F5,SILENT,NM_000130.4:p.Ser767Ser/c.2301A>G,tcA/tcG,LOW,COSM3747585(4),0.26278,0.248,rs6021,,,,,,chr1,169512027,169512027,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser767Ser/c.2301A>G|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3221,0.3948,0.2535,0.24,0.18,0.27,,,,,,,,,,,,,,,,
synonymous_variant,F5,SILENT,NM_000130.4:p.Asn745Asn/c.2235T>C,aaT/aaC,LOW,COSM3997062(1),0.26278,0.248,rs6017,,,,,,chr1,169512093,169512093,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn745Asn/c.2235T>C|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3221,0.3948,0.2535,0.24,0.18,0.27,,,,,,,,,,,,,,,,
synonymous_variant,F5,SILENT,NM_000130.4:p.Ile736Ile/c.2208C>T,atC/atT,LOW,COSM3750565(2),0.26278,0.248,rs386601076,,,,,,chr1,169512120,169512120,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile736Ile/c.2208C>T|2224|F5|protein_coding|CODING|NM_000130.4|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3221,0.3948,0.2535,0.24,0.18,0.27,,,,,,,,,,,,,,,,
missense_variant,F5,MISSENSE,NM_000130.4:p.Gln534Arg/c.1601A>G,cAa/cGa,MODERATE,,0.99401,1,rs6025,1(T),,,-0.0245(T),,chr1,169519049,169519049,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln534Arg/c.1601A>G|2224|F5|protein_coding|CODING|NM_000130.4|10|1),HepG2:H3K36me3,Venous_thromboembolism,RCV000000674.1|RCV000000675.1|RCV000000676.1|RCV000023935.1,,0.9888,0.9899,0.9881,0.98,1.00,0.97,,0.005377(N),0.000(P),"-5.01,-5.01(D,D)",0.6605(D),0.157,0.071163,5.71,5.71,-0.119000,1.434000,2.021000,0.953000,0.674000,0.998000,9.5997
synonymous_variant,F5,SILENT,NM_000130.4:p.Gln79Gln/c.237A>G,caA/caG,LOW,COSM146676(1),0.226438,0.2044,rs6028,,,,,,chr1,169551682,169551682,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln79Gln/c.237A>G|2224|F5|protein_coding|CODING|NM_000130.4|2|1),"HUVEC:H3K27me3,HepG2:H3K36me3",Activated_partial_thromboplastin_time,,,0.3599,0.3501,0.2942,0.21,0.07,0.27,,,,,,,,,,,,,,,,
missense_variant,SELP,MISSENSE,NM_003005.3:p.Thr756Pro/c.2266A>C,Act/Cct,MODERATE,,0.0359425,0.002,rs386601715,,,-0.06(N),-0.8542(T),,chr1,169563951,169563951,T,G,het,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr756Pro/c.2266A>C|830|SELP|protein_coding|CODING|NM_003005.3|13|1),"GM12878:BATF,GM12878:Jund,GM12878:EBF,NHEK:H3K27me3,GM12878:BCL11A,GM12878:NFKB,GM12878:DNase1",Soluble_levels_of_adhesion_molecules,RCV000014482.1,,0.0266,0.0821,0.0885,0.08,0.02,0.11,,,1.000(N),,0.1354(T),.,0.457412,5.42,-3.92,-0.250000,-0.636000,-0.777000,0.056000,0.001000,0.004000,15.7515
missense_variant,SELP,MISSENSE,NM_003005.3:p.Asp603Asn/c.1807G>A,Gac/Aac,MODERATE,,0.750799,0.9573,rs386601660,0.83(T),"0.001,0.001(B,B)",-0.435(N),-1.0323(T),,chr1,169566313,169566313,C,T,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp603Asn/c.1807G>A|830|SELP|protein_coding|CODING|NM_003005.3|11|1),HUVEC:H3K27me3,,,,0.5736,0.7003,0.5905,0.65,0.82,0.56,,0.538069(N),1.000(P),"-0.19,-0.19,-0.19,-0.19,-0.19(T,T,T,T,T)",0.0239(T),0.018,-1.325092,5.13,-1.76,-0.269000,-0.262000,-0.666000,0.320000,0.010000,0.000000,5.7018
missense_variant,SELL,MISSENSE,NM_000655.4:p.Phe206Leu/c.616T>C,Ttt/Ctt,MODERATE,,0.132987,0.005,rs1131498,0.45(T),"0.009,0.009(B,B)",2.015(M),-0.6358(T),,chr1,169676486,169676486,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe206Leu/c.616T>C|385|SELL|protein_coding|CODING|NM_000655.4|4|1),non_coding_exon_variant(MODIFIER|||n.545T>C||SELL||CODING|NR_029467.1|2|1)","GM12878:H3K4me3,CD4:H3K4me3,CD4:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",Amyotrophic_lateral_sclerosis,,,0.1309,0.1801,0.2376,0.23,0.14,0.27,,0.072293(N),0.017(P),-2.8(D),0.4105(T),0.135,2.422432,5.61,3.16,0.533000,1.064000,0.396000,0.990000,0.997000,0.002000,5.6888
synonymous_variant,KIFAP3,SILENT,NM_014970.3:p.Gly506Gly/c.1518G>A,ggG/ggA,LOW,COSM3750581(1),0.273962,0.503,rs33943686,,,,,,chr1,169951997,169951997,C,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly428Gly/c.1284G>A|714|KIFAP3|protein_coding|CODING|NM_001204514.1|15|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly462Gly/c.1386G>A|748|KIFAP3|protein_coding|CODING|NM_001204516.1|13|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly466Gly/c.1398G>A|752|KIFAP3|protein_coding|CODING|NM_001204517.1|14|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly506Gly/c.1518G>A|792|KIFAP3|protein_coding|CODING|NM_014970.3|14|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.228,0.2867,0.326,0.25,0.11,0.32,,,,,,,,,,,,,,,,
synonymous_variant,GORAB,SILENT,NM_152281.2:p.Gly32Gly/c.96A>C,ggA/ggC,LOW,COSM4143021(1),0.927516,1,rs7531125,,,,,,chr1,170501385,170501385,A,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly32Gly/c.96A>C|246|GORAB|protein_coding|CODING|NM_001146039.1|1|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly32Gly/c.96A>C|394|GORAB|protein_coding|CODING|NM_152281.2|1|1),non_coding_exon_variant(MODIFIER|||n.123A>C||GORAB||CODING|NR_027397.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H4K5ac,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,1,0.987,1,0.94,0.81,1.00,,,,,,,,,,,,,,,,
missense_variant,GORAB,MISSENSE,NM_152281.2:p.Glu320Lys/c.958G>A,Gaa/Aaa,MODERATE,COSM3750583(1),0.592652,0.877,rs913257,0.09(T),0.112(B),1.79(L),-1.0340(T),,chr1,170521376,170521376,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu320Lys/c.958G>A|394|GORAB|protein_coding|CODING|NM_152281.2|5|1),non_coding_exon_variant(MODIFIER|||n.989G>A||GORAB||CODING|NR_027397.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.5865,0.4692,0.49,0.53,0.46,,0.000353(D),0.000(P),-0.01(T),0.0851(T),0.087,1.971203,5.63,2.65,0.655000,0.737000,2.566000,0.012000,0.640000,0.999000,9.7822
missense_variant,FMO3,MISSENSE,NM_001002294.2:p.Glu158Lys/c.472G>A,Gag/Aag,MODERATE,,0.347843,0.1905,rs2266782,0.73(T),"0.164,0.025,0.023(B,B,B)",1.385(L),-1.0973(T),,chr1,171076966,171076966,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu158Lys/c.472G>A|532|FMO3|protein_coding|CODING|NM_001002294.2|4|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu158Lys/c.472G>A|532|FMO3|protein_coding|CODING|NM_006894.5|4|1)",,,RCV000017711.1|RCV000020653.1,,0.3108,0.3199,0.3668,0.43,0.47,0.41,,0.071087(N),0.992(P),"0.5,0.5,0.5,0.5(T,T,T,T)",0.0522(T),0.282,1.262427,4.7,3.78,0.491000,2.130000,0.182000,0.664000,1.000000,0.000000,10.54
synonymous_variant,FMO3,SILENT,NM_001002294.2:p.Asn285Asn/c.855C>T,aaC/aaT,LOW,COSM146681(1),0.333666,0.3452,rs909530,,,,,,chr1,171083174,171083174,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn285Asn/c.855C>T|532|FMO3|protein_coding|CODING|NM_001002294.2|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn285Asn/c.855C>T|532|FMO3|protein_coding|CODING|NM_006894.5|7|1)",NHEK:H3K27me3,,,,0.2444,0.3487,0.2356,0.31,0.43,0.24,,,,,,,,,,,,,,,,
missense_variant,FMO3,MISSENSE,NM_001002294.2:p.Glu308Gly/c.923A>G,gAg/gGg,MODERATE,COSM3750592(1),0.0914537,0.1687,rs2266780,0.47(T),"0.994,0.673,0.859(D,P,P)",1.425(L),-0.8055(T),,chr1,171083242,171083242,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu308Gly/c.923A>G|532|FMO3|protein_coding|CODING|NM_001002294.2|7|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu308Gly/c.923A>G|532|FMO3|protein_coding|CODING|NM_006894.5|7|1)",NHEK:H3K27me3,,RCV000017711.1|RCV000031948.1,,0.0337,0.0821,0.172,0.14,0.04,0.19,,0.000020(D),0.000(P),"0.02,0.02,0.02,0.02(T,T,T,T)",0.2038(T),0.244,2.887923,4.73,3.58,0.528000,0.728000,5.276000,0.591000,0.959000,1.000000,11.4047
missense_variant,FMO2,MISSENSE,NM_001460.3:p.Asp36Gly/c.107A>G,gAt/gGt,MODERATE,COSM3750593(1),0.0920527,0.1508,rs2020870,0.01(D),0.46(P),2.4(M),-0.4454(T),,chr1,171154959,171154959,A,G,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp36Gly/c.107A>G|471|FMO2|protein_coding|CODING|NM_001460.3|2|1),,,,,0.1391,0.0447,0.0586,0.07,0.07,0.07,,0.000000(D),0.000(P),"-0.08,-0.08(T,T)",0.2606(T),0.3,4.948795,5.66,5.66,0.533000,2.145000,8.869000,0.938000,0.971000,1.000000,14.8692
missense_variant,FMO2,MISSENSE,NM_001460.3:p.Ser195Leu/c.584C>T,tCa/tTa,MODERATE,COSM146682(5),0.472843,0.5456,rs2020862,0(D),0.366(B),4.705(H),-0.0273(T),,chr1,171168584,171168584,C,T,het,missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser195Leu/c.584C>T|471|FMO2|protein_coding|CODING|NM_001460.3|5|1),HeLa-S3:H3K27me3,,,,0.5,0.4827,0.2962,0.38,0.49,0.32,,0.000000(D),0.000(P),"0.18,0.18(T,T)",0.4697(T),0.36,4.283324,6.17,6.17,0.655000,2.941000,5.980000,0.124000,0.969000,1.000000,19.6509
synonymous_variant,FMO2,SILENT,NM_001460.3:p.Ser195Ser/c.585A>G,tcA/tcG,LOW,COSM146683(3),0.589257,0.6032,rs2020861,,,,,,chr1,171168585,171168585,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser195Ser/c.585A>G|471|FMO2|protein_coding|CODING|NM_001460.3|5|1),HeLa-S3:H3K27me3,,,,0.5849,0.6167,0.3877,0.50,0.67,0.42,,,,,,,,,,,,,,,,
missense_variant,PRRC2C,MISSENSE,NM_015172.3:p.Ala906Thr/c.2716G>A,Gct/Act,MODERATE,,0.800919,0.8958,rs760644,0.86(T),0.002(B),-0.695(N),-0.9298(T),,chr1,171509327,171509327,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala906Thr/c.2716G>A|2817|PRRC2C|protein_coding|CODING|NM_015172.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8548,0.7248,0.8151,0.79,0.76,0.81,,0.404617(N),1.000(P),"3.12,3.12,3.12,3.12(T,T,T,T)",0.0025(T),0.003,0.242422,5.69,-4.06,-1.239000,-0.717000,0.112000,0.002000,0.000000,0.000000,14.1789
synonymous_variant,PRRC2C,SILENT,NM_015172.3:p.Ser1476Ser/c.4428C>G,tcC/tcG,LOW,,0.810304,0.8958,rs1687064,,,,-1.0261(T),,chr1,171511039,171511039,C,G,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser1476Ser/c.4428C>G|2817|PRRC2C|protein_coding|CODING|NM_015172.3|16|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8548,0.7349,0.8161,0.80,0.77,0.81,,,0.000(P),,0.0324(T),.,-0.199301,5.65,0.303,-2.870000,-0.150000,-0.705000,0.928000,0.997000,0.107000,4.4843
missense_variant,PRRC2C,MISSENSE,NM_015172.3:p.Ser1624Cys/c.4871C>G,tCt/tGt,MODERATE,,0.804712,0.8968,rs235468,,,0.345(N),-0.8281(T),,chr1,171514731,171514731,C,G,het,missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser1624Cys/c.4871C>G|2817|PRRC2C|protein_coding|CODING|NM_015172.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8548,0.7305,0.8161,0.79,0.76,0.81,,,1.000(P),,0.0035(T),.,1.164748,5.23,3.27,0.552000,1.156000,1.489000,0.989000,0.092000,0.003000,11.4197
synonymous_variant,PRRC2C,SILENT,NM_015172.3:p.Pro1771Pro/c.5313G>A,ccG/ccA,LOW,,0.810304,0.8958,rs1687057,,,,-1.0134(T),,chr1,171526570,171526570,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1771Pro/c.5313G>A|2817|PRRC2C|protein_coding|CODING|NM_015172.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8548,0.7349,0.8161,0.81,0.78,0.83,,,0.625(P),,0.0324(T),.,-0.045285,0.185,0.185,-0.945000,-0.903000,.,0.206000,0.016000,.,4.5532
synonymous_variant,PRRC2C,SILENT,NM_015172.3:p.Ser2589Ser/c.7767G>C,tcG/tcC,LOW,,0.793131,0.8958,rs235501,,,,-1.0309(T),,chr1,171556165,171556165,G,C,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser2589Ser/c.7767G>C|2817|PRRC2C|protein_coding|CODING|NM_015172.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8221,0.732,0.8151,0.79,0.74,0.81,,,0.000(P),,0.0324(T),.,1.054442,5.24,2.14,-0.365000,0.308000,-0.135000,0.942000,1.000000,0.825000,2.8708
synonymous_variant,DNM3,SILENT,NM_015569.4:p.Thr741Thr/c.2223A>G,acA/acG,LOW,,0.996605,1,rs6688654,,,,,,chr1,172356437,172356437,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr737Thr/c.2211A>G|859|DNM3|protein_coding|CODING|NM_001136127.2|18|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr741Thr/c.2223A>G|863|DNM3|protein_coding|CODING|NM_015569.4|19|1)","GM12878:H3K36me3,K562:H3K27me3",,,,1,0.9942,0.9871,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,PIGC,MISSENSE,NM_153747.1:p.Pro266Ser/c.796C>T,Cca/Tca,MODERATE,COSM3750596(3),0.454273,0.6597,rs1063412,0.13(T),1.0(D),1.515(L),-0.7723(T),,chr1,172410967,172410967,G,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro266Ser/c.796C>T|297|PIGC|protein_coding|CODING|NM_153747.1|2|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro266Ser/c.796C>T|297|PIGC|protein_coding|CODING|NM_002642.3|2|1),intron_variant(MODIFIER|||c.22-3246G>A|183|C1orf105|protein_coding|CODING|NM_139240.3|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.5675,0.536,0.5994,0.42,0.15,0.56,,0.000000(D),0.000(P),"0.36,0.36,0.36(T,T,T)",0.1794(T),0.297,4.083615,5.16,4.24,0.655000,1.157000,9.034000,0.974000,1.000000,1.000000,12.3206
synonymous_variant,PIGC,SILENT,NM_153747.1:p.Gly89Gly/c.267T>C,ggT/ggC,LOW,COSM3750597(1),0.924121,1,rs2230471,,,,,,chr1,172411496,172411496,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly89Gly/c.267T>C|297|PIGC|protein_coding|CODING|NM_153747.1|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly89Gly/c.267T>C|297|PIGC|protein_coding|CODING|NM_002642.3|2|1),intron_variant(MODIFIER|||c.22-2717A>G|183|C1orf105|protein_coding|CODING|NM_139240.3|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1",,,,0.9591,0.9092,0.8499,0.85,0.89,0.83,,,,,,,,,,,,,,,,
missense_variant,C1orf105,MISSENSE,NM_139240.3:p.Ser137Asn/c.410G>A,aGc/aAc,MODERATE,COSM3750598(1),0.841254,1,rs1129942,0.12(T),0.027(B),0.895(L),-1.0725(T),,chr1,172437592,172437592,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser127Asn/c.380G>A|173|C1orf105|protein_coding|CODING|NM_001300760.1|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser137Asn/c.410G>A|183|C1orf105|protein_coding|CODING|NM_139240.3|7|1)",HSMM:DNase1,,,,0.9356,0.8516,0.8072,0.76,0.71,0.78,,0.001276(N),0.000(P),"0.91,0.91(T,T)",0.0291(T),0.038,0.622837,4.01,1.08,0.655000,0.258000,-0.323000,0.111000,0.529000,0.010000,6.607
missense_variant,SUCO,MISSENSE,NM_016227.3:p.Ser11Pro/c.31T>C,Tct/Cct,MODERATE,COSM146688(1),0.2498,0.1885,rs2239816,0(D),,,-0.9646(T),,chr1,172501643,172501643,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser11Pro/c.31T>C|1405|SUCO|protein_coding|CODING|NM_016227.3|1|1),upstream_gene_variant(MODIFIER||615||883|SUCO|protein_coding|CODING|NM_001282750.1||1),upstream_gene_variant(MODIFIER||615||691|SUCO|protein_coding|CODING|NM_001282751.1||1),upstream_gene_variant(MODIFIER||615||1254|SUCO|protein_coding|CODING|NM_014283.4||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,K562:FAIRE,IMR90:H3K4me2,H1ESC:SP1,GM12878:SIX5,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HMEC:H3K27ac,HepG2:PolII,K562:Cfos,IMR90:H2BK12ac,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,K562:GTF2B,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,IMR90:H2BK15ac,GM12878:PolII,HepG2:H3K4me3,HUVEC:FAIRE,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HeLa-S3:Cfos,CD4:PolII,GM12878:Cfos,NHEK:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,CD4:p300,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.3906,0.2104,0.2515,0.23,0.20,0.25,,0.375353(N),1.000(P),,0.0433(T),0.028,0.830565,4.33,-1.3,-0.353000,-0.345000,-1.854000,0.004000,0.000000,0.000000,4.4794
missense_variant,SUCO,MISSENSE,NM_016227.3:p.Leu117Pro/c.350T>C,cTg/cCg,MODERATE,COSM4143029(2),0.363618,0.1895,rs2285143,0.31(T),,,-0.9841(T),,chr1,172502340,172502340,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu117Pro/c.350T>C|1405|SUCO|protein_coding|CODING|NM_016227.3|2|1),5_prime_UTR_variant(MODIFIER||236|c.-236T>C|883|SUCO|protein_coding|CODING|NM_001282750.1|1|1),5_prime_UTR_variant(MODIFIER||236|c.-236T>C|1254|SUCO|protein_coding|CODING|NM_014283.4|1|1),5_prime_UTR_variant(MODIFIER||55591|c.-1765T>C|691|SUCO|protein_coding|CODING|NM_001282751.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:TAF1,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,K562:E2F4,K562:Jund,GM12878:Sin3Ak20",,,,0.4162,0.2493,0.2545,,,,,0.714466(N),0.000(P),,0.0166(T),0.056,-1.712122,3.91,-3.24,-0.642000,-0.808000,-0.939000,0.135000,0.706000,0.109000,0.5736
synonymous_variant,SUCO,SILENT,NM_016227.3:p.Ile163Ile/c.489T>C,atT/atC,LOW,COSM4143030(2),0.589457,0.379,rs2285144,,,,,,chr1,172502479,172502479,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile163Ile/c.489T>C|1405|SUCO|protein_coding|CODING|NM_016227.3|2|1),5_prime_UTR_variant(MODIFIER||97|c.-97T>C|883|SUCO|protein_coding|CODING|NM_001282750.1|1|1),5_prime_UTR_variant(MODIFIER||97|c.-97T>C|1254|SUCO|protein_coding|CODING|NM_014283.4|1|1),5_prime_UTR_variant(MODIFIER||55452|c.-1626T>C|691|SUCO|protein_coding|CODING|NM_001282751.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.7311,0.4611,0.5835,0.63,0.69,0.59,,,,,,,,,,,,,,,,
synonymous_variant,SUCO,SILENT,NM_016227.3:p.Glu607Glu/c.1821A>G,gaA/gaG,LOW,COSM3750599(1),0.254193,0.2024,rs2285664,,,,,,chr1,172547465,172547465,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu419Glu/c.1257A>G|883|SUCO|protein_coding|CODING|NM_001282750.1|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu456Glu/c.1368A>G|1254|SUCO|protein_coding|CODING|NM_014283.4|14|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu607Glu/c.1821A>G|1405|SUCO|protein_coding|CODING|NM_016227.3|13|1),5_prime_UTR_variant(MODIFIER||10466|c.-162A>G|691|SUCO|protein_coding|CODING|NM_001282751.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3885,0.2089,0.2296,0.24,0.23,0.24,,,,,,,,,,,,,,,,
missense_variant,FASLG,MISSENSE,NM_000639.1:p.Ala93Val/c.278C>T,gCc/gTc,MODERATE,,,,,0(D),"0.437,0.234(B,B)",0.975(L),-0.9092(T),,chr1,172628619,172628619,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala93Val/c.278C>T|281|FASLG|protein_coding|CODING|NM_000639.1|1|1),"CD4:H3K4me3,CD4:H3K27ac",,,,,,,,,,,0.000032(D),0.986(D),"0.49,1.43(T,T)",0.1016(T),0.568,4.110648,4.62,4.62,0.563000,2.291000,3.251000,0.909000,1.000000,1.000000,14.5784
synonymous_variant,SLC9C2,SILENT,NM_178527.3:p.Gln1089Gln/c.3267A>G,caA/caG,LOW,COSM3750614(1),0.304313,0.6448,rs12026637,,,,,,chr1,173474429,173474429,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln1089Gln/c.3267A>G|1124|SLC9C2|protein_coding|CODING|NM_178527.3|26|1),HUVEC:H3K27me3,,,,0.4325,0.3213,0.2087,0.15,0.05,0.21,,,,,,,,,,,,,,,,
missense_variant,SLC9C2,MISSENSE,NM_178527.3:p.Ala505Gly/c.1514C>G,gCt/gGt,MODERATE,COSM3750615(1),0.334665,0.6448,rs16846206,0.27(T),0.034(B),0(N),-0.9473(T),,chr1,173516871,173516871,G,C,hom,missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala505Gly/c.1514C>G|1124|SLC9C2|protein_coding|CODING|NM_178527.3|13|1),,,,,0.4264,0.3256,0.2107,0.18,0.13,0.21,,0.421735(N),0.999(P),"1.8,1.8(T,T)",0.0090(T),0.016,1.258637,5.5,-0.206,-0.440000,0.035000,0.324000,0.401000,0.997000,0.999000,4.5975
synonymous_variant,SLC9C2,SILENT,NM_178527.3:p.Asn494Asn/c.1482T>C,aaT/aaC,LOW,COSM3750616(1),0.485224,0.6448,rs10494490,,,,,,chr1,173516903,173516903,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn494Asn/c.1482T>C|1124|SLC9C2|protein_coding|CODING|NM_178527.3|13|1),,,,,0.4274,0.3732,0.2147,0.34,0.59,0.21,,,,,,,,,,,,,,,,
missense_variant,TNN,MISSENSE,NM_022093.1:p.Arg79Gly/c.235A>G,Agg/Ggg,MODERATE,COSM3723919(1),0.571486,0.3829,rs2072032,0.55(T),0.0(B),-0.895(N),-1.0550(T),,chr1,175046789,175046789,A,G,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg79Gly/c.235A>G|1299|TNN|protein_coding|CODING|NM_022093.1|2|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4888,0.5173,0.508,0.59,0.78,0.50,,0.049409(N),1.000(P),1.78(T),0.0000(T),0.032,-1.896385,4.19,0.0709,-1.617000,-0.291000,1.476000,0.033000,0.001000,0.008000,4.9436
synonymous_variant,TNN,SILENT,NM_022093.1:p.His414His/c.1242C>T,caC/caT,LOW,,0.541134,0.3829,rs1573758,,,,,,chr1,175054548,175054548,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His414His/c.1242C>T|1299|TNN|protein_coding|CODING|NM_022093.1|6|1),"K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4806,0.5072,0.508,0.56,0.68,0.50,,,,,,,,,,,,,,,,
missense_variant,TNN,MISSENSE,NM_022093.1:p.Trp807Arg/c.2419T>C,Tgg/Cgg,MODERATE,COSM3746666(2),0.473243,0.0704,rs6696455,0.25(T),0.001(B),-1.9(N),-0.9904(T),,chr1,175087729,175087729,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp807Arg/c.2419T>C|1299|TNN|protein_coding|CODING|NM_022093.1|11|1),"GM12878:H3K36me3,NHEK:H3K27me3",,,,0.3855,0.3818,0.4513,0.57,0.82,0.44,,0.972365(N),1.000(P),0.51(T),0.0000(T),0.029,-1.837943,5.17,0.856,-1.619000,-0.249000,-0.030000,0.009000,0.000000,0.000000,4.7145
missense_variant,TNN,MISSENSE,NM_022093.1:p.Pro930Leu/c.2789C>T,cCg/cTg,MODERATE,COSM146692(4),0.598243,0.4921,rs2285215,0.41(T),0.703(P),2.29(M),-0.9110(T),,chr1,175092674,175092674,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro930Leu/c.2789C>T|1299|TNN|protein_coding|CODING|NM_022093.1|12|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.5838,0.6671,0.6421,0.62,0.61,0.63,,0.010594(N),1.000(P),0.46(T),0.0000(T),0.087,2.485302,4.98,3.1,0.462000,0.605000,1.703000,0.668000,0.001000,0.002000,5.8964
missense_variant,TNN,MISSENSE,NM_022093.1:p.Thr941Met/c.2822C>T,aCg/aTg,MODERATE,COSM1336424(1),0.300319,0.0972,rs10798333,0.08(T),0.292(B),2.66(M),-0.9739(T),,chr1,175092707,175092707,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr941Met/c.2822C>T|1299|TNN|protein_coding|CODING|NM_022093.1|12|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2004,0.2824,0.4433,0.41,0.40,0.42,,0.000046(N),0.994(P),0.24(T),0.0000(T),0.143,2.043724,4.98,3.11,-0.448000,0.606000,-0.268000,0.663000,0.980000,0.000000,6.9905
synonymous_variant,TNN,SILENT,NM_022093.1:p.Asn1217Asn/c.3651T>C,aaT/aaC,LOW,,0.986022,0.997,rs10912897,,,,,,chr1,175113578,175113578,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1217Asn/c.3651T>C|1299|TNN|protein_coding|CODING|NM_022093.1|18|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.9959,0.9741,0.9602,0.97,0.99,0.96,,,,,,,,,,,,,,,,
synonymous_variant,TNR,SILENT,NM_003285.2:p.Gln1234Gln/c.3702A>G,caA/caG,LOW,,0.765974,0.7887,rs2027867,,,,,,chr1,175299301,175299301,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln1234Gln/c.3702A>G|1358|TNR|protein_coding|CODING|NM_003285.2|21|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6902,0.7637,0.7187,0.75,0.81,0.72,,,,,,,,,,,,,,,,
synonymous_variant,TNR,SILENT,NM_003285.2:p.Asp1079Asp/c.3237T>C,gaT/gaC,LOW,COSM4143050(1),0.665735,0.7946,rs2228359,,,,,,chr1,175324651,175324651,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1079Asp/c.3237T>C|1358|TNR|protein_coding|CODING|NM_003285.2|17|1),NHEK:H3K27me3,,,,0.682,0.7104,0.6819,0.64,0.54,0.69,,,,,,,,,,,,,,,,
missense_variant,TNR,MISSENSE,NM_003285.2:p.Arg643Lys/c.1928G>A,aGg/aAg,MODERATE,COSM4143052(1),0.696286,0.8065,rs859427,1(T),0.009(B),0.365(N),-0.9204(T),,chr1,175348723,175348723,C,T,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg643Lys/c.1928G>A|1358|TNR|protein_coding|CODING|NM_003285.2|9|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6861,0.7147,0.6491,0.66,0.68,0.65,,0.002778(N),0.984(P),"0.37,0.37(T,T)",0.0000(T),0.041,0.323851,5.19,2.83,-0.381000,0.271000,2.163000,0.780000,0.543000,0.992000,2.8207
synonymous_variant,TNR,SILENT,NM_003285.2:p.Thr518Thr/c.1554T>C,acT/acC,LOW,COSM4143053(1),0.832867,0.8919,rs386492433,,,,,,chr1,175355391,175355391,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr518Thr/c.1554T>C|1358|TNR|protein_coding|CODING|NM_003285.2|8|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8548,0.8631,0.7724,0.80,0.82,0.79,,,,,,,,,,,,,,,,
missense_variant,TNR,MISSENSE,NM_003285.2:p.Ala128Ser/c.382G>T,Gcc/Tcc,MODERATE,,0.287141,0.5179,rs2239819,0.34(T),"0.007,0.004(B,B)",0.55(N),-0.9524(T),,chr1,175375469,175375469,C,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala128Ser/c.382G>T|1358|TNR|protein_coding|CODING|NM_003285.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3006,0.3617,0.2525,0.22,0.13,0.27,,0.000132(N),1.000(P),"1.34,1.34(T,T)",0.0000(T),0.168,-0.423785,5.24,2.0,0.561000,0.577000,3.195000,0.561000,0.010000,1.000000,8.009
synonymous_variant,TNR,SILENT,NM_003285.2:p.Thr56Thr/c.168A>G,acA/acG,LOW,,0.726837,0.8194,rs386617745,,,,,,chr1,175375683,175375683,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr56Thr/c.168A>G|1358|TNR|protein_coding|CODING|NM_003285.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6462,0.7781,0.6302,0.68,0.76,0.64,,,,,,,,,,,,,,,,
missense_variant,TNR,MISSENSE,NM_003285.2:p.Ile17Val/c.49A>G,Atc/Gtc,MODERATE,,0.722045,0.8194,rs859398,1(T),0.0(B),-0.805(N),-0.9699(T),,chr1,175375802,175375802,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile17Val/c.49A>G|1358|TNR|protein_coding|CODING|NM_003285.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6462,0.7781,0.6302,0.68,0.74,0.64,,0.006081(N),1.000(P),"1.84,1.84(T,T)",0.0000(T),0.052,-0.758951,5.56,3.69,-0.215000,0.727000,0.493000,0.983000,0.813000,0.175000,5.5024
synonymous_variant,PAPPA2,SILENT,NM_020318.2:p.Pro776Pro/c.2328C>T,ccC/ccT,LOW,,0.148962,0.001,rs10913241,,,,,,chr1,176659463,176659463,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro776Pro/c.2328C>T|1791|PAPPA2|protein_coding|CODING|NM_020318.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro776Pro/c.2328C>T|827|PAPPA2|protein_coding|CODING|NM_021936.2|5|1)",,,,,0.1677,0.1182,0.2008,0.18,0.20,0.18,,,,,,,,,,,,,,,,
synonymous_variant,PAPPA2,SILENT,NM_020318.2:p.Asp1754Asp/c.5262C>T,gaC/gaT,LOW,,0.095647,0.002,rs12118034,,,,,,chr1,176809368,176809368,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1754Asp/c.5262C>T|1791|PAPPA2|protein_coding|CODING|NM_020318.2|22|1),"GM12878:H3K36me3,HMEC:H3K27me3",,,,0.2055,0.0821,0.2117,0.13,0.04,0.18,,,,,,,,,,,,,,,,
missense_variant,ASTN1,MISSENSE,NM_004319.2:p.His934Gln/c.2802C>G,caC/caG,MODERATE,,0.829273,0.8006,rs2281180,0.76(T),"0.0,0.0(B,B)",-0.895(N),-1.0115(T),,chr1,176863836,176863836,G,C,hom,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His934Gln/c.2802C>G|1228|ASTN1|protein_coding|CODING|NM_001286164.1|17|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His934Gln/c.2802C>G|1294|ASTN1|protein_coding|CODING|NM_004319.2|17|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His934Gln/c.2802C>G|1216|ASTN1|protein_coding|CODING|NM_207108.2|17|1)","NHEK:H3K27me3,HSMM:H3K27me3",,,,0.862,0.7233,0.8588,0.85,0.87,0.84,,0.000668(N),1.000(P),"1.66,1.66,1.66,1.66(T,T,T,T)",0.0000(T),0.142,-0.172549,5.26,2.28,-0.120000,0.308000,0.771000,0.996000,1.000000,1.000000,3.1692
missense_variant,ASTN1,MISSENSE,NM_004319.2:p.His924Arg/c.2771A>G,cAc/cGc,MODERATE,,0.828874,0.8006,rs2228956,1(T),"0.0,0.0(B,B)",-0.805(N),-0.9714(T),,chr1,176863867,176863867,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His924Arg/c.2771A>G|1228|ASTN1|protein_coding|CODING|NM_001286164.1|17|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His924Arg/c.2771A>G|1294|ASTN1|protein_coding|CODING|NM_004319.2|17|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His924Arg/c.2771A>G|1216|ASTN1|protein_coding|CODING|NM_207108.2|17|1)","NHEK:H3K27me3,HSMM:H3K27me3",,,,0.8609,0.7233,0.8588,0.85,0.87,0.83,,0.000000(N),0.998(P),"1.65,1.65,1.65,1.65(T,T,T,T)",0.0000(T),0.124,0.969826,5.26,5.26,-0.119000,1.387000,5.347000,0.989000,1.000000,1.000000,14.0869
synonymous_variant,ASTN1,SILENT,NM_004319.2:p.Cys475Cys/c.1425T>C,tgT/tgC,LOW,,0.514177,0.2054,rs172917,,,,,,chr1,176992553,176992553,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys475Cys/c.1425T>C|1228|ASTN1|protein_coding|CODING|NM_001286164.1|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys475Cys/c.1425T>C|1294|ASTN1|protein_coding|CODING|NM_004319.2|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys475Cys/c.1425T>C|1216|ASTN1|protein_coding|CODING|NM_207108.2|7|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3926,0.4957,0.5895,0.64,0.73,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ASTN1,SILENT,NM_004319.2:p.Gln434Gln/c.1302G>A,caG/caA,LOW,COSM3750636(2),0.237021,0.003,rs10798496,,,,,,chr1,176992676,176992676,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln434Gln/c.1302G>A|1228|ASTN1|protein_coding|CODING|NM_001286164.1|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln434Gln/c.1302G>A|1294|ASTN1|protein_coding|CODING|NM_004319.2|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln434Gln/c.1302G>A|1216|ASTN1|protein_coding|CODING|NM_207108.2|7|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.2454,0.2248,0.4364,0.38,0.28,0.43,,,,,,,,,,,,,,,,
synonymous_variant,SEC16B,SILENT,NM_033127.2:p.Gly994Gly/c.2982C>T,ggC/ggT,LOW,,0.228035,0.1052,rs3748792,,,,,,chr1,177901655,177901655,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly994Gly/c.2982C>T|1060|SEC16B|protein_coding|CODING|NM_033127.2|24|1),"GM12878:H3K27me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2454,0.2637,0.2604,0.23,0.27,0.22,,,,,,,,,,,,,,,,
synonymous_variant,SEC16B,SILENT,NM_033127.2:p.Ala993Ala/c.2979G>A,gcG/gcA,LOW,,0.227835,0.1052,rs7554597,,,,,,chr1,177901658,177901658,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala993Ala/c.2979G>A|1060|SEC16B|protein_coding|CODING|NM_033127.2|24|1),"GM12878:H3K27me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2454,0.2622,0.2604,0.23,0.27,0.21,,,,,,,,,,,,,,,,
missense_variant,SEC16B,MISSENSE,NM_033127.2:p.Ala929Ser/c.2785G>T,Gct/Tct,MODERATE,COSM3997083(1),0.227436,0.1052,rs61745560,0.68(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.645(N),-0.9396(T),,chr1,177902387,177902387,C,A,het,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala929Ser/c.2785G>T|1060|SEC16B|protein_coding|CODING|NM_033127.2|22|1),"GM12878:H3K27me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2444,0.2608,0.2604,0.25,0.28,0.23,,0.104444(N),1.000(P),2.62(T),0.0000(T),0.028,1.005487,5.19,2.68,-0.256000,0.287000,0.987000,0.002000,0.314000,0.563000,4.9398
missense_variant,SEC16B,MISSENSE,NM_033127.2:p.Ser873Asn/c.2618G>A,aGt/aAt,MODERATE,COSM3997084(1),0.219249,0.1052,rs3813649,0.53(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-1.0132(T),,chr1,177902725,177902725,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser873Asn/c.2618G>A|1060|SEC16B|protein_coding|CODING|NM_033127.2|21|1),"GM12878:H3K27me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.2444,0.2594,0.2604,0.24,0.26,0.24,,0.000175(N),1.000(P),2.54(T),0.0000(T),0.002,-0.066930,5.11,-10.2,-3.232000,-4.241000,-1.654000,0.007000,0.000000,0.000000,2.8549
missense_variant,SEC16B,MISSENSE,NM_033127.2:p.Pro864Ala/c.2590C>G,Cca/Gca,MODERATE,,0.408946,0.2808,rs591120,0.91(T),"0.0,0.0,0.0(B,B,B)",-1.78(N),-0.9406(T),,chr1,177902753,177902753,G,C,het,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro864Ala/c.2590C>G|1060|SEC16B|protein_coding|CODING|NM_033127.2|21|1),"GM12878:H3K27me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.4049,0.4409,0.4463,0.44,0.46,0.43,,0.264476(N),1.000(P),2.72(T),0.0000(T),0.014,0.634161,5.65,2.73,-0.120000,0.052000,-0.320000,0.008000,0.001000,0.000000,4.338
missense_variant,SEC16B,MISSENSE,NM_033127.2:p.Gln845His/c.2535G>T,caG/caT,MODERATE,,0.195088,0.1716,rs7522194,0.65(T),"0.804,0.459,0.459,0.459(P,P,P,P)",2.075(M),-1.0218(T),,chr1,177905469,177905469,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln845His/c.2535G>T|1060|SEC16B|protein_coding|CODING|NM_033127.2|20|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2495,0.2349,0.2624,0.20,0.12,0.23,,0.337745(N),1.000(P),2.45(T),0.0000(T),0.099,1.311719,4.88,2.97,0.655000,0.744000,1.251000,0.055000,0.005000,0.034000,7.9554
synonymous_variant,SEC16B,SILENT,NM_033127.2:p.Pro479Pro/c.1437A>C,ccA/ccC,LOW,COSM3750638(1),0.166933,0.0288,rs12129817,,,,,,chr1,177923440,177923440,T,G,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro479Pro/c.1437A>C|1060|SEC16B|protein_coding|CODING|NM_033127.2|11|1),"HSMM:H3K36me3,HepG2:H3K36me3",,,,0.2055,0.2032,0.2286,0.22,0.18,0.23,,,,,,,,,,,,,,,,
missense_variant,SEC16B,MISSENSE,NM_033127.2:p.His292Arg/c.875A>G,cAt/cGt,MODERATE,COSM4143067(1),0.809904,0.8075,rs12040910,0.36(T),"0.0,0.0,0.001(B,B,B)",-0.345(N),-1.0239(T),,chr1,177929987,177929987,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His292Arg/c.875A>G|1060|SEC16B|protein_coding|CODING|NM_033127.2|7|1),"NH-A:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.7771,0.7882,0.7485,0.81,0.87,0.77,,0.670017(N),1.000(P),"1.01,1.01(T,T)",0.0000(T),0.052,1.184081,5.75,2.46,-0.119000,0.336000,0.146000,0.380000,0.600000,0.000000,6.8249
missense_variant,TEX35,MISSENSE,NM_032126.4:p.Leu171Arg/c.512T>G,cTg/cGg,MODERATE,COSM3930523(2),0.36901,0.4077,rs3813636,0.18(T),"0.648,0.698,0.698(P,P,P)",1.525(L),-0.9323(T),,chr1,178489978,178489978,T,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu179Arg/c.536T>G|215|TEX35|protein_coding|CODING|NM_001170722.1|7|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu171Arg/c.512T>G|212|TEX35|protein_coding|CODING|NM_001170723.1|7|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu171Arg/c.512T>G|207|TEX35|protein_coding|CODING|NM_001170724.1|7|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu171Arg/c.512T>G|233|TEX35|protein_coding|CODING|NM_032126.4|7|1)","HUVEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3558,0.4827,0.4543,0.37,0.28,0.41,,0.732108(N),1.000(P),"1.74,1.74,1.74,1.74,1.74(T,T,T,T,T)",0.0000(T),0.297,2.283107,4.09,1.82,0.438000,0.743000,0.068000,0.040000,0.041000,0.002000,5.1247
synonymous_variant,TEX35,SILENT,NM_001170722.1:p.Ala207Ala/c.621T>A,gcT/gcA,LOW,COSM3721049(4),0.57508,0.503,rs7527160,,,,,,chr1,178492447,178492447,T,A,het,"synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala207Ala/c.621T>A|215|TEX35|protein_coding|CODING|NM_001170722.1|9|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala199Ala/c.597T>A|207|TEX35|protein_coding|CODING|NM_001170724.1|9|1),downstream_gene_variant(MODIFIER||1501||212|TEX35|protein_coding|CODING|NM_001170723.1||1),downstream_gene_variant(MODIFIER||658||233|TEX35|protein_coding|CODING|NM_032126.4||1)",HepG2:H3K27me3,,,,0.456,0.5937,0.5547,0.57,0.70,0.52,,,,,,,,,,,,,,,,
missense_variant,TOR3A,MISSENSE,NM_022371.3:p.Phe13Leu/c.37T>C,Ttc/Ctc,MODERATE,COSM424690(3),0.767173,0.6677,rs2296377,1(T),0.0(B),-1.59(N),-0.9229(T),,chr1,179051300,179051300,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe13Leu/c.37T>C|397|TOR3A|protein_coding|CODING|NM_022371.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.7157,0.6441,0.7117,0.82,0.95,0.76,,0.632520(N),1.000(P),"1.31,1.4,1.63(T,T,T)",0.0000(T),0.328,-1.323382,0.427,-0.794,-1.610000,-1.608000,-1.490000,0.004000,0.002000,0.000000,.
synonymous_variant,TOR3A,SILENT,NM_022371.3:p.Leu211Leu/c.631C>T,Ctg/Ttg,LOW,,0.132388,0.255,rs2296376,,,,,,chr1,179055020,179055020,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu211Leu/c.631C>T|397|TOR3A|protein_coding|CODING|NM_022371.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0736,0.0663,0.1402,0.12,0.11,0.12,,,,,,,,,,,,,,,,
synonymous_variant,SOAT1,SILENT,NM_003101.5:p.Pro199Pro/c.597C>T,ccC/ccT,LOW,COSM146697(1),0.282348,0.4782,rs11576517,,,,,,chr1,179310262,179310262,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro141Pro/c.423C>T|492|SOAT1|protein_coding|CODING|NM_001252511.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro134Pro/c.402C>T|485|SOAT1|protein_coding|CODING|NM_001252512.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro199Pro/c.597C>T|550|SOAT1|protein_coding|CODING|NM_003101.5|7|1),non_coding_exon_variant(MODIFIER|||n.643C>T||SOAT1||CODING|NR_045530.1|5|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:PU1",,,,0.3517,0.2406,0.2406,0.19,0.14,0.21,,,,,,,,,,,,,,,,
synonymous_variant,AXDND1,SILENT,NM_144696.5:p.Val145Val/c.435T>C,gtT/gtC,LOW,COSM3750646(2),0.511781,0.6974,rs10798674,,,,,,chr1,179347832,179347832,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val145Val/c.435T>C|1012|AXDND1|protein_coding|CODING|NM_144696.5|5|1),non_coding_exon_variant(MODIFIER|||n.696T>C||AXDND1||CODING|NR_073544.1|5|1)",GM12878:H3K36me3,,,,0.6186,0.5274,0.5159,0.42,0.32,0.46,,,,,,,,,,,,,,,,
missense_variant,AXDND1,MISSENSE,NM_144696.5:p.Gln993Glu/c.2977C>G,Caa/Gaa,MODERATE,COSM3746680(2),0.38139,0.4256,rs6658180,0.7(T),"0.0,0.0(B,B)",-0.55(N),-0.9399(T),,chr1,179504043,179504043,C,G,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln993Glu/c.2977C>G|1012|AXDND1|protein_coding|CODING|NM_144696.5|25|1),non_coding_exon_variant(MODIFIER|||n.3097C>G||AXDND1||CODING|NR_073544.1|25|1)",,,,,0.4673,0.4035,0.4115,0.33,0.27,0.36,,0.020132(N),1.000(P),"2.44,2.46(T,T)",0.0000(T),0.089,-2.521003,2.47,-4.94,-1.284000,-1.372000,-1.633000,0.003000,0.000000,0.000000,0.9261
synonymous_variant,NPHS2,SILENT,NM_014625.3:p.Ala318Ala/c.954C>T,gcC/gcT,LOW,COSM146700(1),0.58766,0.4911,rs1410592,,,,,,chr1,179520506,179520506,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala250Ala/c.750C>T|315|NPHS2|protein_coding|CODING|NM_001297575.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala318Ala/c.954C>T|383|NPHS2|protein_coding|CODING|NM_014625.3|8|1),intron_variant(MODIFIER|||c.3032-3141G>A|1012|AXDND1|protein_coding|CODING|NM_144696.5|25|1),intron_variant(MODIFIER|||n.3152-3141G>A||AXDND1||CODING|NR_073544.1|25|1)","HeLa-S3:DNase1,GM12878:BATF,IMR90:DNase1,HSMM:DNase1,GM12878:EBF,HeLa-S3:Cfos,GM12878:DNase1,NHEK:DNase1",,,,0.6166,0.634,0.6153,0.62,0.60,0.63,,,,,,,,,,,,,,,,
synonymous_variant,NPHS2,SILENT,NM_014625.3:p.Gly34Gly/c.102A>G,ggA/ggG,LOW,COSM3749013(9),0.930911,0.9812,rs1079292,,,,,,chr1,179544898,179544898,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly34Gly/c.102A>G|315|NPHS2|protein_coding|CODING|NM_001297575.1|1|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly34Gly/c.102A>G|383|NPHS2|protein_coding|CODING|NM_014625.3|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.9356,0.9683,0.992,0.97,0.90,0.99,,,,,,,,,,,,,,,,
missense_variant,TDRD5,MISSENSE,NM_001199085.1:p.Arg126Ser/c.378G>C,agG/agC,MODERATE,COSM3750649(1),0.307708,0.371,rs61310274,0.27(T),"0.994,0.986(D,D)",0.805(L),-0.9211(T),,chr1,179562740,179562740,G,C,het,"missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg126Ser/c.378G>C|1035|TDRD5|protein_coding|CODING|NM_001199085.1|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg126Ser/c.378G>C|1035|TDRD5|protein_coding|CODING|NM_001199089.1|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg126Ser/c.378G>C|981|TDRD5|protein_coding|CODING|NM_001199091.1|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg126Ser/c.378G>C|981|TDRD5|protein_coding|CODING|NM_173533.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3834,0.4092,0.3897,0.29,0.15,0.36,,0.000923(D),0.301(P),"2.64,2.64,2.78(T,T,T)",0.0000(T),0.393,3.658717,5.59,2.58,0.655000,0.625000,0.835000,0.998000,1.000000,1.000000,7.1341
synonymous_variant,TDRD5,SILENT,NM_001199085.1:p.Asp454Asp/c.1362C>T,gaC/gaT,LOW,COSM3750651(2),0.796925,0.9048,rs4628468,,,,,,chr1,179604864,179604864,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp454Asp/c.1362C>T|1035|TDRD5|protein_coding|CODING|NM_001199085.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp454Asp/c.1362C>T|1035|TDRD5|protein_coding|CODING|NM_001199089.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp454Asp/c.1362C>T|981|TDRD5|protein_coding|CODING|NM_001199091.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp9Asp/c.27C>T|536|TDRD5|protein_coding|CODING|NM_001199092.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp454Asp/c.1362C>T|981|TDRD5|protein_coding|CODING|NM_173533.3|9|1)",HUVEC:H3K27me3,,,,0.7679,0.8631,0.7773,0.75,0.73,0.75,,,,,,,,,,,,,,,,
missense_variant,TOR1AIP1,MISSENSE,NM_001267578.1:p.Met146Thr/c.437T>C,aTg/aCg,MODERATE,COSM4143081(1),0.608826,0.7778,rs1281378,1(T),"0.0,0.0(B,B)",-1.905(N),-1.0020(T),,chr1,179852074,179852074,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met146Thr/c.437T>C|584|TOR1AIP1|protein_coding|CODING|NM_001267578.1|1|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met146Thr/c.437T>C|583|TOR1AIP1|protein_coding|CODING|NM_015602.3|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:MEF2C,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:BCLAF1,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,GM12878:SP1,GM12878:ZEB1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:THAP1,K562:Cmyc,HMEC:CTCF,GM12878:MEF2A,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:IRF4,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,CD4:H4K5ac,HeLa-S3:Nrsf,CD4:H3K4ac,GM12878:Rad21,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,K562:PU1,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:TAF1,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:PU1,HepG2:Yy1,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4",,,,0.6902,0.6758,0.6133,0.57,0.44,0.63,,0.440772(N),1.000(P),"2.05,2.05,2.05(T,T,T)",0.0000(T),0.175,-1.444634,4.2,-1.54,-0.230000,-0.363000,0.473000,0.010000,0.000000,0.014000,3.6348
splice_acceptor_variant,TOR1AIP1,protein_coding,NM_001267578.1:c.554G>A,,HIGH,,0.635383,0.7778,rs2245425,,,,,TOR1AIP1:0.50(2);,chr1,179858444,179858444,G,A,hom,"splice_acceptor_variant(HIGH|||c.554G>A|584|TOR1AIP1|protein_coding|CODING|NM_001267578.1|3|1),splice_region_variant(LOW|||c.554G>A|583|TOR1AIP1|protein_coding|CODING|NM_015602.3|2|1),intron_variant(MODIFIER|||c.554-1G>A|584|TOR1AIP1|protein_coding|CODING|NM_001267578.1|2|1),intron_variant(MODIFIER|||c.554-4G>A|583|TOR1AIP1|protein_coding|CODING|NM_015602.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.6916,0.6064,0.58,0.50,0.62,,,0.000(P),,,.,1.764619,5.26,5.26,0.557000,2.598000,4.200000,0.006000,0.123000,0.993000,14.7301
missense_variant,TOR1AIP1,MISSENSE,NM_001267578.1:p.Pro277Arg/c.830C>G,cCt/cGt,MODERATE,,0.584065,0.7778,rs609521,,,1.7(L),-0.9808(T),,chr1,179876988,179876988,C,G,hom,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro277Arg/c.830C>G|584|TOR1AIP1|protein_coding|CODING|NM_001267578.1|7|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro276Arg/c.827C>G|583|TOR1AIP1|protein_coding|CODING|NM_015602.3|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6748,0.6715,0.6093,0.54,0.37,0.63,,,1.000(P),,0.0000(T),.,1.466776,4.74,3.81,0.650000,1.187000,1.705000,0.042000,0.002000,0.003000,10.0678
synonymous_variant,TOR1AIP1,SILENT,NM_001267578.1:p.Ala502Ala/c.1506G>A,gcG/gcA,LOW,,0.91853,0.9147,rs627897,,,,-1.0184(T),,chr1,179887125,179887125,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala502Ala/c.1506G>A|584|TOR1AIP1|protein_coding|CODING|NM_001267578.1|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala501Ala/c.1503G>A|583|TOR1AIP1|protein_coding|CODING|NM_015602.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9642,0.951,0.9523,0.93,0.87,0.95,,,0.000(P),,0.0000(T),.,1.112898,5.96,-2.41,-0.254000,-0.307000,-0.017000,0.985000,0.980000,0.747000,7.0782
missense_variant,CEP350,MISSENSE,NM_014810.4:p.Glu945Gln/c.2833G>C,Gaa/Caa,MODERATE,,0.564297,0.7044,rs2477120,,"0.543,0.029(P,B)",0.895(L),-1.0679(T),,chr1,179989742,179989742,G,C,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu945Gln/c.2833G>C|3117|CEP350|protein_coding|CODING|NM_014810.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.7349,0.6461,0.54,0.33,0.64,,0.005124(N),0.661(P),3.08(T),0.0000(T),0.045,1.209166,6.02,6.02,0.655000,2.865000,4.603000,0.701000,1.000000,1.000000,20.1358
synonymous_variant,QSOX1,SILENT,NM_002826.4:p.Thr145Thr/c.435A>G,acA/acG,LOW,,0.885583,0.8472,rs2298206,,,,,,chr1,180145088,180145088,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr145Thr/c.435A>G|604|QSOX1|protein_coding|CODING|NM_001004128.2|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr145Thr/c.435A>G|747|QSOX1|protein_coding|CODING|NM_002826.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8978,0.9669,0.9563,0.92,0.84,0.96,,,,,,,,,,,,,,,,
missense_variant,LHX4,MISSENSE,NM_033343.3:p.Asn328Ser/c.983A>G,aAt/aGt,MODERATE,COSM3746684(3),0.426318,0.5942,rs7536561,1(T),0.0(B),0.235(N),-0.9560(T),,chr1,180243524,180243524,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn328Ser/c.983A>G|390|LHX4|protein_coding|CODING|NM_033343.3|6|1),intron_variant(MODIFIER|||n.31+262T>C||LHX4-AS1||NON_CODING|NR_037642.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.3256,0.5487,0.41,0.20,0.52,,0.000003(N),0.000(P),-2.24(D),0.0000(T),0.033,-0.196658,5.68,3.27,0.533000,0.377000,2.529000,0.999000,1.000000,1.000000,6.9196
missense_variant,KIAA1614,MISSENSE,NM_020950.1:p.Leu64Pro/c.191T>C,cTg/cCg,MODERATE,COSM4143090(1),0.99401,1,rs10732273,0.12(T),0.0(B),0.345(N),-0.9358(T),,chr1,180885430,180885430,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu64Pro/c.191T>C|1190|KIAA1614|protein_coding|CODING|NM_020950.1|2|1),"GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,0.016358(N),1.000(P),3.35(T),0.0000(T),0.031,1.261995,4.85,-8.68,-1.088000,-2.054000,-1.073000,0.010000,0.000000,0.000000,1.8565
synonymous_variant,KIAA1614,SILENT,NM_020950.1:p.Thr355Thr/c.1065C>T,acC/acT,LOW,COSM3746685(2),0.389976,0.5516,rs3747958,,,,,,chr1,180897569,180897569,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr355Thr/c.1065C>T|1190|KIAA1614|protein_coding|CODING|NM_020950.1|4|1),IMR90:H3K36me3,,,,0.3456,0.4063,0.4135,0.37,0.28,0.41,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1614,SILENT,NM_020950.1:p.Asn883Asn/c.2649C>T,aaC/aaT,LOW,COSM4143091(1),0.288738,0.495,rs3795503,,,,,,chr1,180905694,180905694,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn883Asn/c.2649C>T|1190|KIAA1614|protein_coding|CODING|NM_020950.1|5|1),"IMR90:H3K36me3,NHEK:H3K27me3",,,,0.2863,0.2738,0.3012,0.26,0.17,0.30,,,,,,,,,,,,,,,,
missense_variant,KIAA1614,MISSENSE,NM_020950.1:p.Asn1078Asp/c.3232A>G,Aac/Gac,MODERATE,,0.996406,1,rs2331995,1(T),"0.0,0.0(B,B)",-2.125(N),-0.9876(T),,chr1,180913597,180913597,A,G,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1078Asp/c.3232A>G|1190|KIAA1614|protein_coding|CODING|NM_020950.1|8|1),"H1ESC:H3K36me3,K562:CTCF,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.240871(N),1.000(N),"2.89,2.32(T,T)",0.0000(T),0.004,1.447304,4.94,4.94,-0.320000,1.093000,2.369000,0.314000,1.000000,0.929000,9.5121
synonymous_variant,MR1,SILENT,NM_001531.2:p.Asn239Asn/c.717C>T,aaC/aaT,LOW,COSM292346(1),0.00958466,0,rs35223984,,,,,,chr1,181021483,181021483,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn194Asn/c.582C>T|296|MR1|protein_coding|CODING|NM_001194999.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn239Asn/c.717C>T|341|MR1|protein_coding|CODING|NM_001531.2|5|1),intron_variant(MODIFIER|||c.605-1226C>T|249|MR1|protein_coding|CODING|NM_001195000.1|4|1),intron_variant(MODIFIER|||c.604+2061C>T|214|MR1|protein_coding|CODING|NM_001195035.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0216,0.0318,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,IER5,MISSENSE,NM_016545.4:p.Arg92His/c.275G>A,cGt/cAt,MODERATE,COSM3750665(1),0.443291,0.6002,rs3747955,0.55(T),0.011(B),1.245(L),-0.9749(T),,chr1,181058313,181058313,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg92His/c.275G>A|327|IER5|protein_coding|CODING|NM_016545.4|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.6104,0.4452,0.3777,0.29,0.24,0.31,,0.968738(U),1.000(P),2.85(T),0.0000(T),0.092,-0.234111,3.62,-1.18,0.297000,-0.337000,0.173000,0.009000,0.000000,0.000000,7.4605
missense_variant,IER5,MISSENSE,NM_016545.4:p.Glu103Lys/c.307G>A,Gag/Aag,MODERATE,COSM1560405(1),0.00579073,0,rs200142413,0.1(T),0.14(B),1.445(L),-1.0362(T),,chr1,181058345,181058345,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu103Lys/c.307G>A|327|IER5|protein_coding|CODING|NM_016545.4|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.0123,0.0029,0.0139,0.01,0.00,0.02,,0.186814(U),0.978(N),3.0(T),0.0118(T),0.043,0.884749,3.0,2.02,0.448000,0.535000,0.899000,0.033000,0.008000,0.005000,7.6479
missense_variant,IER5,MISSENSE,NM_016545.4:p.Arg194Gly/c.580C>G,Cgc/Ggc,MODERATE,COSM1579710(2),0.44369,0.6012,rs1416829,0.22(T),0.013(B),-0.69(N),-0.9636(T),,chr1,181058618,181058618,C,G,het,missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg194Gly/c.580C>G|327|IER5|protein_coding|CODING|NM_016545.4|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6115,0.4452,0.3777,,,,,0.532505(N),1.000(P),2.74(T),0.0000(T),0.101,0.100211,3.33,-0.106,-1.520000,0.004000,-0.019000,0.005000,0.001000,0.001000,8.3021
missense_variant,IER5,MISSENSE,NM_016545.4:p.Gln202Arg/c.605A>G,cAa/cGa,MODERATE,COSM3750666(2),0.966054,1,rs1361365,1(T),0.0(B),-0.895(N),-0.9981(T),,chr1,181058643,181058643,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln202Arg/c.605A>G|327|IER5|protein_coding|CODING|NM_016545.4|1|1),"NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,0.9856,0.999,,,,,0.871247(N),1.000(P),2.7(T),0.0000(T),0.105,-1.723243,3.68,2.75,-0.365000,0.089000,-0.325000,0.029000,0.003000,0.000000,7.6022
missense_variant,ZNF648,MISSENSE,NM_001009992.1:p.Asn111Lys/c.333C>G,aaC/aaG,MODERATE,,0.176917,0.2837,rs12568050,0.84(T),0.002(B),0(N),-0.9369(T),,chr1,182026813,182026813,G,C,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn111Lys/c.333C>G|568|ZNF648|protein_coding|CODING|NM_001009992.1|2|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2546,0.121,0.1471,0.12,0.10,0.14,,,1.000(P),3.32(T),0.0000(T),0.021,0.177723,2.26,-4.0,-2.238000,-1.686000,-2.038000,0.000000,0.000000,0.000000,6.409
missense_variant,ZNF648,MISSENSE,NM_001009992.1:p.Glu42Lys/c.124G>A,Gag/Aag,MODERATE,,0.175719,0.2827,rs12564283,0.48(T),0.001(B),0.255(N),-0.8992(T),,chr1,182027022,182027022,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu42Lys/c.124G>A|568|ZNF648|protein_coding|CODING|NM_001009992.1|2|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2546,0.121,0.1471,0.12,0.09,0.14,,,1.000(P),3.13(T),0.0000(T),0.089,1.078777,2.76,0.787,0.655000,0.218000,0.313000,0.007000,0.003000,0.000000,7.0419
synonymous_variant,GLUL,SILENT,NM_001033044.2:p.Ser65Ser/c.195T>C,tcT/tcC,LOW,,0.675719,0.8323,rs1058111,,,,,,chr1,182356399,182356399,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser65Ser/c.195T>C|373|GLUL|protein_coding|CODING|NM_001033044.2|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser65Ser/c.195T>C|373|GLUL|protein_coding|CODING|NM_001033056.2|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser65Ser/c.195T>C|373|GLUL|protein_coding|CODING|NM_002065.5|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5951,0.6167,0.5408,0.59,0.74,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TEDDM1,SILENT,NM_172000.3:p.Pro181Pro/c.543C>T,ccC/ccT,LOW,,0.853634,0.8373,rs6698722,,,,,,chr1,182369078,182369078,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro181Pro/c.543C>T|273|TEDDM1|protein_coding|CODING|NM_172000.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7955,0.8156,0.8171,0.84,0.93,0.79,,,,,,,,,,,,,,,,
missense_variant,TEDDM1,MISSENSE,NM_172000.3:p.Tyr130His/c.388T>C,Tat/Cat,MODERATE,,0.678115,0.8294,rs6674281,1(T),0.0(B),-2.845(N),-0.9579(T),,chr1,182369233,182369233,A,G,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr130His/c.388T>C|273|TEDDM1|protein_coding|CODING|NM_172000.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5971,0.6124,0.5417,0.59,0.74,0.52,,0.000002(N),1.000(P),1.48(T),0.0000(T),0.122,-1.684426,5.05,5.05,-0.119000,1.368000,3.052000,0.001000,0.020000,0.922000,11.5331
missense_variant,RNASEL,MISSENSE,NM_021133.3:p.Asp541Glu/c.1623T>G,gaT/gaG,MODERATE,,0.479832,0.7093,rs386602167,1(T),"0.0,0.0(B,B)",0.565(N),-0.9575(T),,chr1,182551337,182551337,A,C,het,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp541Glu/c.1623T>G|741|RNASEL|protein_coding|CODING|NM_021133.3|4|1),"HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4714,0.4424,0.5686,0.47,0.33,0.55,,0.472757(N),1.000(P),"2.06,2.06,2.06(T,T,T)",0.0000(T),0.023,-0.786976,5.1,-5.59,-1.655000,-1.577000,-2.581000,0.005000,0.000000,0.000000,3.9872
missense_variant,RGS16,MISSENSE,NM_002928.3:p.His137Arg/c.410A>G,cAc/cGc,MODERATE,,0.986022,1,rs1144566,1(T),0.0(B),-3.235(N),-0.9475(T),,chr1,182569626,182569626,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His137Arg/c.410A>G|202|RGS16|protein_coding|CODING|NM_002928.3|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,GM12878:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9928,0.9856,0.9781,0.98,0.98,0.97,,0.000000(N),0.999(P),1.9(T),0.0000(T),0.089,-0.658652,5.3,5.3,-0.320000,1.253000,3.062000,0.137000,1.000000,0.981000,13.8275
synonymous_variant,DHX9,SILENT,NM_001357.4:p.Thr953Thr/c.2859T>C,acT/acC,LOW,,0.984625,1,rs6677840,,,,,,chr1,182850727,182850727,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr953Thr/c.2859T>C|1270|DHX9|protein_coding|CODING|NM_001357.4|24|1),non_coding_exon_variant(MODIFIER|||n.3171T>C||DHX9||CODING|NR_033302.1|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,SHCBP1L,MISSENSE,NM_030933.2:p.Val491Met/c.1471G>A,Gtg/Atg,MODERATE,,0.00758786,0,rs12138972,0.02(D),"0.999,0.999,0.999(D,D,D)",1.32(L),-0.0719(T),,chr1,182873431,182873431,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val491Met/c.1471G>A|653|SHCBP1L|protein_coding|CODING|NM_030933.2|8|1),,,,,0.0153,0.0058,0.0189,0.02,0.01,0.03,,0.000084(D),0.996(D),"-1.29,-1.29(T,T)",0.3398(T),0.538,4.207911,5.55,5.55,0.655000,2.618000,5.085000,0.993000,1.000000,0.995000,16.4312
synonymous_variant,LAMC1,SILENT,NM_002293.3:p.Ala58Ala/c.174C>T,gcC/gcT,LOW,COSM4143109(1),0.519569,0.628,rs10911194,,,,,,chr1,182993025,182993025,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala58Ala/c.174C>T|1609|LAMC1|protein_coding|CODING|NM_002293.3|1|1),"GM12878:Cmyc,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:Cmyc,HUVEC:H3K4me2,K562:H3K27me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF,HeLa-S3:E2F6,GM06990:CTCF",,,,0.5992,0.611,0.5338,0.48,0.36,0.54,,,,,,,,,,,,,,,,
synonymous_variant,LAMC1,SILENT,NM_002293.3:p.Cys182Cys/c.546T>C,tgT/tgC,LOW,,0.531949,0.628,rs2296288,,,,,,chr1,183072590,183072590,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys182Cys/c.546T>C|1609|LAMC1|protein_coding|CODING|NM_002293.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.6268,0.5646,0.51,0.38,0.57,,,,,,,,,,,,,,,,
missense_variant,LAMC1,MISSENSE,NM_002293.3:p.Ile458Val/c.1372A>G,Att/Gtt,MODERATE,,0.531749,0.628,rs20563,1(T),0.0(B),-1.33(N),-1.0410(T),,chr1,183085755,183085755,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile458Val/c.1372A>G|1609|LAMC1|protein_coding|CODING|NM_002293.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.6254,0.5636,0.50,0.37,0.57,,0.010325(N),1.000(P),0.15(T),0.0000(T),0.033,-0.566876,4.5,-4.2,-0.186000,-1.286000,-0.034000,0.961000,0.230000,0.002000,6.7303
synonymous_variant,LAMC1,SILENT,NM_002293.3:p.Ala592Ala/c.1776A>C,gcA/gcC,LOW,COSM4143110(1),0.531749,0.628,rs2296292,,,,,,chr1,183086757,183086757,A,C,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala592Ala/c.1776A>C|1609|LAMC1|protein_coding|CODING|NM_002293.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.6254,0.5636,0.50,0.37,0.57,,,,,,,,,,,,,,,,
synonymous_variant,LAMC1,SILENT,NM_002293.3:p.Asn837Asn/c.2511T>C,aaT/aaC,LOW,,0.531749,0.628,rs20557,,,,,,chr1,183093875,183093875,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn837Asn/c.2511T>C|1609|LAMC1|protein_coding|CODING|NM_002293.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.6254,0.5636,0.50,0.37,0.57,,,,,,,,,,,,,,,,
missense_variant,LAMC1,MISSENSE,NM_002293.3:p.Leu888Pro/c.2663T>C,cTg/cCg,MODERATE,,0.531749,0.628,rs20558,1(T),0.0(B),-1.95(N),-0.9402(T),,chr1,183094547,183094547,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu888Pro/c.2663T>C|1609|LAMC1|protein_coding|CODING|NM_002293.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:USF1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.6254,0.5636,0.50,0.37,0.57,,0.000000(N),0.002(P),0.22(T),0.0000(T),0.167,0.436410,5.64,5.64,-0.119000,1.396000,4.396000,0.012000,0.071000,1.000000,14.4753
missense_variant,LAMC1,MISSENSE,NM_002293.3:p.Arg1121Gln/c.3362G>A,cGg/cAg,MODERATE,COSM3750686(1),0.0155751,0,rs20559,0.6(T),0.002(B),0.885(L),-1.0460(T),,chr1,183099560,183099560,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1121Gln/c.3362G>A|1609|LAMC1|protein_coding|CODING|NM_002293.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0144,0.0467,0.05,0.01,0.06,,0.004632(N),0.998(D),1.98(T),0.0043(T),0.071,2.509314,4.76,4.76,0.561000,2.339000,4.810000,0.988000,0.992000,1.000000,9.9697
synonymous_variant,LAMC1,SILENT,NM_002293.3:p.Arg1376Arg/c.4128T>C,cgT/cgC,LOW,COSM4143113(1),0.560503,0.625,rs20560,,,,,,chr1,183105534,183105534,T,C,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg1376Arg/c.4128T>C|1609|LAMC1|protein_coding|CODING|NM_002293.3|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5787,0.6354,0.5666,0.54,0.48,0.57,,,,,,,,,,,,,,,,
synonymous_variant,LAMC1,SILENT,NM_002293.3:p.Ala1433Ala/c.4299G>A,gcG/gcA,LOW,COSM4143114(1),0.351837,0.5109,rs20561,,,,,,chr1,183105705,183105705,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1433Ala/c.4299G>A|1609|LAMC1|protein_coding|CODING|NM_002293.3|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.317,0.3833,0.4433,0.36,0.22,0.43,,,,,,,,,,,,,,,,
synonymous_variant,SMG7,SILENT,NM_201569.2:p.Leu72Leu/c.216G>A,ctG/ctA,LOW,,0.941893,0.998,rs789169,,,,,,chr1,183486859,183486859,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu30Leu/c.90G>A|1145|SMG7|protein_coding|CODING|NM_001174061.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu72Leu/c.216G>A|1137|SMG7|protein_coding|CODING|NM_173156.2|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu72Leu/c.216G>A|1091|SMG7|protein_coding|CODING|NM_201568.2|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu72Leu/c.216G>A|1178|SMG7|protein_coding|CODING|NM_201569.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.956,0.9135,0.8698,0.90,0.95,0.87,,,,,,,,,,,,,,,,
missense_variant,NCF2,MISSENSE,NM_000433.3:p.Lys181Arg/c.542A>G,aAg/aGg,MODERATE,COSM3750690(3),0.491613,0.621,rs2274064,0.86(T),"0.001,0.0(B,B)",-0.29(N),-0.9326(T),,chr1,183542387,183542387,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys181Arg/c.542A>G|526|NCF2|protein_coding|CODING|NM_000433.3|5|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys181Arg/c.542A>G|526|NCF2|protein_coding|CODING|NM_001127651.2|6|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys136Arg/c.407A>G|481|NCF2|protein_coding|CODING|NM_001190794.1|4|1),intron_variant(MODIFIER|||c.367-2413A>G|445|NCF2|protein_coding|CODING|NM_001190789.1|3|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5256,0.598,0.4672,0.43,0.36,0.47,,0.075117(N),0.000(P),"-0.17,-0.1,-0.17(T,T,T)",0.0000(T),0.011,0.215651,5.08,1.27,-0.962000,0.100000,0.583000,0.968000,0.998000,0.992000,9.9264
missense_variant,APOBEC4,MISSENSE,NM_203454.2:p.Lys331Glu/c.991A>G,Aag/Gag,MODERATE,,0.370208,0.244,rs1174657,0.84(T),0.001(B),0.895(L),-0.9218(T),,chr1,183616926,183616926,T,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys331Glu/c.991A>G|367|APOBEC4|protein_coding|CODING|NM_203454.2|2|1),intron_variant(MODIFIER|||c.-143+11290T>C|766|RGL1|protein_coding|CODING|NM_001297669.1|1|1),intron_variant(MODIFIER|||c.-33+11290T>C|766|RGL1|protein_coding|CODING|NM_001297670.1|1|1),intron_variant(MODIFIER|||c.-33+11290T>C|803|RGL1|protein_coding|CODING|NM_015149.4|1|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.319,0.3473,0.4006,0.42,0.47,0.40,,0.753250(N),1.000(P),2.59(T),0.0000(T),0.016,-1.278574,5.15,-0.467,-2.030000,-0.238000,0.073000,0.000000,0.000000,0.000000,6.984
missense_variant,APOBEC4,MISSENSE,NM_203454.2:p.Phe271Ser/c.812T>C,tTt/tCt,MODERATE,COSM424777(1),0.370208,0.244,rs1174658,0.38(T),0.0(B),-1.87(N),-0.9694(T),,chr1,183617105,183617105,A,G,het,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe271Ser/c.812T>C|367|APOBEC4|protein_coding|CODING|NM_203454.2|2|1),intron_variant(MODIFIER|||c.-143+11469A>G|766|RGL1|protein_coding|CODING|NM_001297669.1|1|1),intron_variant(MODIFIER|||c.-33+11469A>G|766|RGL1|protein_coding|CODING|NM_001297670.1|1|1),intron_variant(MODIFIER|||c.-33+11469A>G|803|RGL1|protein_coding|CODING|NM_015149.4|1|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.319,0.3473,0.4006,0.42,0.47,0.40,,0.034575(N),1.000(P),2.91(T),0.0000(T),0.033,-1.372911,4.55,4.55,-0.119000,0.918000,1.385000,0.011000,0.005000,0.034000,8.1901
synonymous_variant,RGL1,SILENT,NM_015149.4:p.Asp538Asp/c.1614C>T,gaC/gaT,LOW,COSM3746692(2),0.217053,0.0754,rs11591089,,,,,,chr1,183876182,183876182,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp501Asp/c.1503C>T|766|RGL1|protein_coding|CODING|NM_001297669.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp501Asp/c.1503C>T|766|RGL1|protein_coding|CODING|NM_001297670.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp503Asp/c.1509C>T|768|RGL1|protein_coding|CODING|NM_001297671.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp474Asp/c.1422C>T|739|RGL1|protein_coding|CODING|NM_001297672.1|13|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp538Asp/c.1614C>T|803|RGL1|protein_coding|CODING|NM_015149.4|15|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2239,0.2853,0.3012,0.28,0.25,0.30,,,,,,,,,,,,,,,,
missense_variant,EDEM3,MISSENSE,NM_025191.3:p.Ile820Ser/c.2459T>G,aTt/aGt,MODERATE,COSM3746697(2),0.353435,0.5784,rs9425343,0.73(T),0.002(B),0(N),-0.9514(T),,chr1,184663537,184663537,A,C,het,missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile820Ser/c.2459T>G|932|EDEM3|protein_coding|CODING|NM_025191.3|20|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.544,0.3401,0.3698,0.29,0.10,0.38,,0.905495(N),1.000(P),"-0.65,-0.72(T,T)",0.0000(T),0.148,-0.707891,5.21,1.12,0.533000,0.295000,0.294000,0.342000,0.008000,0.003000,6.32
synonymous_variant,EDEM3,SILENT,NM_025191.3:p.Gln805Gln/c.2415A>G,caA/caG,LOW,COSM3746698(3),0.422125,0.5873,rs9425634,,,,,,chr1,184663581,184663581,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln805Gln/c.2415A>G|932|EDEM3|protein_coding|CODING|NM_025191.3|20|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.3963,0.4324,0.38,0.24,0.44,,,,,,,,,,,,,,,,
synonymous_variant,EDEM3,SILENT,NM_025191.3:p.Asn722Asn/c.2166C>T,aaC/aaT,LOW,,0.350639,0.5784,rs1062994,,,,,,chr1,184675814,184675814,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn722Asn/c.2166C>T|932|EDEM3|protein_coding|CODING|NM_025191.3|18|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.544,0.3372,0.3708,0.28,0.09,0.38,,,,,,,,,,,,,,,,
synonymous_variant,EDEM3,SILENT,NM_025191.3:p.Ile620Ile/c.1860C>T,atC/atT,LOW,COSM3746701(2),0.651957,0.7004,rs3736757,,,,,,chr1,184677464,184677464,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile620Ile/c.1860C>T|932|EDEM3|protein_coding|CODING|NM_025191.3|17|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:MEF2A,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Obesity_related_traits,,,0.6125,0.5101,0.4761,0.58,0.79,0.48,,,,,,,,,,,,,,,,
synonymous_variant,SWT1,SILENT,NM_001105518.1:p.Ser42Ser/c.126A>G,tcA/tcG,LOW,COSM3750696(1),0.345048,0.1944,rs950327,,,,,,chr1,185135745,185135745,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser42Ser/c.126A>G|900|SWT1|protein_coding|CODING|NM_001105518.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser42Ser/c.126A>G|900|SWT1|protein_coding|CODING|NM_017673.6|3|1)","HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.3589,0.3905,0.3499,0.38,0.40,0.36,,,,,,,,,,,,,,,,
missense_variant,SWT1,MISSENSE,NM_001105518.1:p.Ile148Val/c.442A>G,Att/Gtt,MODERATE,COSM3750697(2),0.434704,0.2718,rs10489579,0.64(T),0.001(B),1.735(L),-0.9244(T),,chr1,185143721,185143721,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile148Val/c.442A>G|900|SWT1|protein_coding|CODING|NM_001105518.1|5|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile148Val/c.442A>G|900|SWT1|protein_coding|CODING|NM_017673.6|5|1)",IMR90:H3K36me3,,,,0.4008,0.3487,0.3439,0.45,0.64,0.36,,0.918619(N),1.000(P),"1.17,1.17,1.17(T,T,T)",0.0000(T),0.125,-0.836082,5.35,0.918,0.455000,-0.149000,0.566000,0.559000,0.002000,0.955000,1.757
missense_variant,SWT1,MISSENSE,NM_001105518.1:p.His536Arg/c.1607A>G,cAc/cGc,MODERATE,COSM3750698(1),0.275559,0.1964,rs6698109,0.38(T),0.0(B),0(N),-0.8965(T),,chr1,185171869,185171869,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His536Arg/c.1607A>G|900|SWT1|protein_coding|CODING|NM_001105518.1|11|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His536Arg/c.1607A>G|900|SWT1|protein_coding|CODING|NM_017673.6|11|1)",,,,,0.3885,0.2464,0.341,0.32,0.25,0.35,,0.056064(N),1.000(P),"2.34,2.34(T,T)",0.0000(T),0.023,0.684572,5.49,-0.0357,-0.274000,-0.187000,0.715000,0.720000,0.003000,0.844000,4.8888
missense_variant,SWT1,MISSENSE,NM_001105518.1:p.Asn821Asp/c.2461A>G,Aat/Gat,MODERATE,COSM424793(2),0.348043,0.245,rs12041704,0.64(T),0.395(B),0.695(N),-0.9473(T),,chr1,185240474,185240474,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn821Asp/c.2461A>G|900|SWT1|protein_coding|CODING|NM_001105518.1|17|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn821Asp/c.2461A>G|900|SWT1|protein_coding|CODING|NM_017673.6|17|1)",,,,,0.4642,0.3963,0.4433,0.37,0.27,0.43,,0.000535(D),0.988(P),"2.09,2.09(T,T)",0.0000(T),0.027,3.123324,6.02,4.8,0.528000,2.299000,3.076000,0.987000,1.000000,1.000000,9.9289
missense_variant,HMCN1,MISSENSE,NM_031935.2:p.Ile2418Thr/c.7253T>C,aTa/aCa,MODERATE,COSM3997114(1),0.529952,0.5675,rs12129650,0.05(D),0.446(B),2.76(M),-0.9099(T),,chr1,186026474,186026474,T,C,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile2418Thr/c.7253T>C|5635|HMCN1|protein_coding|CODING|NM_031935.2|46|1),,,,,0.455,0.6124,0.496,0.53,0.56,0.51,,0.000027(N),0.000(P),"-0.64,-0.64(T,T)",0.0000(T),0.183,3.569521,5.8,4.67,-0.263000,1.020000,5.743000,0.830000,0.907000,1.000000,11.7655
synonymous_variant,HMCN1,SILENT,NM_031935.2:p.Cys2457Cys/c.7371C>T,tgC/tgT,LOW,COSM3997115(1),0.654353,0.5903,rs7522627,,,,,,chr1,186031041,186031041,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys2457Cys/c.7371C>T|5635|HMCN1|protein_coding|CODING|NM_031935.2|47|1),intron_variant(MODIFIER|||n.59-1151G>A||MIR548F1||NON_CODING|NR_031642.1|3|1)",,,,,0.5849,0.647,0.5348,0.63,0.81,0.54,,,,,,,,,,,,,,,,
missense_variant,HMCN1,MISSENSE,NM_031935.2:p.Glu2893Gly/c.8678A>G,gAg/gGg,MODERATE,COSM424810(1),0.582668,0.5694,rs10798035,0.1(T),0.996(D),2.24(M),-0.9177(T),,chr1,186050417,186050417,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu2893Gly/c.8678A>G|5635|HMCN1|protein_coding|CODING|NM_031935.2|56|1),intron_variant(MODIFIER|||n.53-17130T>C||MIR548F1||NON_CODING|NR_031642.1|2|1)",,,RCV000082286.1,,0.4959,0.6311,0.499,0.55,0.67,0.50,,0.000030(D),0.000(P),"1.54,1.54(T,T)",0.0000(T),0.195,4.808057,5.86,5.86,0.533000,2.241000,8.904000,0.856000,0.995000,1.000000,14.8163
missense_variant,HMCN1,MISSENSE,NM_031935.2:p.Gln4437Arg/c.13310A>G,cAa/cGa,MODERATE,COSM3750699(1),0.484425,0.5685,rs10911825,0.58(T),0.46(P),1.74(L),-0.9315(T),,chr1,186101539,186101539,A,G,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln4437Arg/c.13310A>G|5635|HMCN1|protein_coding|CODING|NM_031935.2|86|1),splice_region_variant(LOW|||c.13310A>G|5635|HMCN1|protein_coding|CODING|NM_031935.2|86|1),intron_variant(MODIFIER|||n.53-68252T>C||MIR548F1||NON_CODING|NR_031642.1|2|1)",,,,,0.4018,0.4841,0.2634,0.37,0.58,0.26,,0.000000(D),0.000(P),"1.58,-0.63(T,T)",0.0000(T),0.157,4.290972,5.37,5.37,0.533000,2.141000,8.537000,0.909000,1.000000,1.000000,15.6642
synonymous_variant,PRG4,SILENT,NM_005807.3:p.Asp269Asp/c.807T>C,gaT/gaC,LOW,,,,rs369538986,,,,,,chr1,186275658,186275658,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp228Asp/c.684T>C|1363|PRG4|protein_coding|CODING|NM_001127708.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp176Asp/c.528T>C|1311|PRG4|protein_coding|CODING|NM_001127709.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp135Asp/c.405T>C|1270|PRG4|protein_coding|CODING|NM_001127710.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp269Asp/c.807T>C|1404|PRG4|protein_coding|CODING|NM_005807.3|7|1),intron_variant(MODIFIER|||n.52+27720A>G||MIR548F1||NON_CODING|NR_031642.1|2|1),intron_variant(MODIFIER|||n.27+5344A>G||RNU6-72P||NON_CODING|NR_046941.1|1|1)",,,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,PRG4,SILENT,NM_005807.3:p.Lys303Lys/c.909G>A,aaG/aaA,LOW,COSM3750700(1),0.177316,0.131,rs16825150,,,,,,chr1,186275760,186275760,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys262Lys/c.786G>A|1363|PRG4|protein_coding|CODING|NM_001127708.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys210Lys/c.630G>A|1311|PRG4|protein_coding|CODING|NM_001127709.1|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys169Lys/c.507G>A|1270|PRG4|protein_coding|CODING|NM_001127710.1|4|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys303Lys/c.909G>A|1404|PRG4|protein_coding|CODING|NM_005807.3|7|1),intron_variant(MODIFIER|||n.52+27618C>T||MIR548F1||NON_CODING|NR_031642.1|2|1),intron_variant(MODIFIER|||n.27+5242C>T||RNU6-72P||NON_CODING|NR_046941.1|1|1)",,,,,0.135,0.0879,0.1521,0.20,0.29,0.16,,,,,,,,,,,,,,,,
missense_variant,PRG4,MISSENSE,NM_005807.3:p.Cys746Ser/c.2237G>C,tGt/tCt,MODERATE,,1,1,rs68069719,,"0.0,0.0,0.0,0.0(B,B,B,B)",-0.55(N),-1.0469(T),,chr1,186277088,186277088,G,C,hom,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys705Ser/c.2114G>C|1363|PRG4|protein_coding|CODING|NM_001127708.1|6|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys653Ser/c.1958G>C|1311|PRG4|protein_coding|CODING|NM_001127709.1|5|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys612Ser/c.1835G>C|1270|PRG4|protein_coding|CODING|NM_001127710.1|4|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys746Ser/c.2237G>C|1404|PRG4|protein_coding|CODING|NM_005807.3|7|1),intron_variant(MODIFIER|||n.52+26290C>G||MIR548F1||NON_CODING|NR_031642.1|2|1),intron_variant(MODIFIER|||n.27+3914C>G||RNU6-72P||NON_CODING|NR_046941.1|1|1)",,,,,1,1,1,1.00,1.00,1.00,,,1.000(P),"3.69,3.83,3.7,3.82(T,T,T,T)",0.0000(T),0.225,-0.892084,0.609,-1.22,-1.106000,-1.529000,-0.166000,0.001000,0.000000,0.000000,7.5014
missense_variant,TPR,MISSENSE,NM_003292.2:p.Ser960Asn/c.2879G>A,aGc/aAc,MODERATE,COSM3750701(1),0.0980431,0.13,rs3753565,0.08(T),0.63(P),1.7(L),-1.1875(T),,chr1,186316488,186316488,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser960Asn/c.2879G>A|2363|TPR|protein_coding|CODING|NM_003292.2|22|1),intron_variant(MODIFIER|||n.40-13098G>A||MIR548F1||NON_CODING|NR_031642.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.136,0.0634,0.1501,0.12,0.04,0.16,,0.000003(D),0.035(P),1.84(T),0.0005(T),0.111,4.675400,5.25,5.25,0.591000,2.445000,3.539000,0.971000,0.997000,1.000000,18.8445
missense_variant,PLA2G4A,MISSENSE,NM_024420.2:p.Arg651Lys/c.1952G>A,aGg/aAg,MODERATE,,0.988219,0.998,rs2307198,1(T),"0.0,0.0(B,B)",-2.365(N),-0.9650(T),,chr1,186946912,186946912,G,A,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg651Lys/c.1952G>A|749|PLA2G4A|protein_coding|CODING|NM_024420.2|16|1),"HUVEC:H3K4me3,HUVEC:H3K9ac,HUVEC:H3K4me2,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.9816,0.9841,0.9742,0.99,1.00,0.98,,0.000000(N),0.970(P),"2.94,2.94(T,T)",0.0000(T),0.182,1.400204,5.98,5.98,-0.254000,1.089000,7.052000,0.979000,1.000000,1.000000,11.5117
missense_variant,GLRX2,MISSENSE,NM_016066.4:p.Arg40Trp/c.118A>T,Agg/Tgg,MODERATE,COSM3750712(4),0.680711,0.4454,rs10921310,0.21(T),0.0(B),,-0.9182(T),,chr1,193074651,193074651,T,A,het,"missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg40Trp/c.118A>T|165|GLRX2|protein_coding|CODING|NM_016066.4|1|1),upstream_gene_variant(MODIFIER||43||164|GLRX2|protein_coding|CODING|NM_197962.2||1),intron_variant(MODIFIER|||c.-2+97A>T|124|GLRX2|protein_coding|CODING|NM_001243399.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,K562:CTCF,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.8119,0.696,0.6928,0.74,0.74,0.74,,0.000001(N),1.000(P),1.38(T),0.0000(T),0.009,1.324576,2.89,0.911,-0.868000,-0.030000,-0.542000,0.023000,0.000000,0.000000,1.3138
missense_variant,B3GALT2,MISSENSE,NM_003783.3:p.Tyr123Asp/c.367T>G,Tac/Gac,MODERATE,,0.000599042,0,rs41265203,0.22(T),0.01(B),1.39(L),-1.0829(T),,chr1,193150326,193150326,A,C,het,"missense_variant(MODERATE|MISSENSE|Tac/Gac|p.Tyr123Asp/c.367T>G|422|B3GALT2|protein_coding|CODING|NM_003783.3|2|1),intron_variant(MODIFIER|||c.973-22599A>C|531|CDC73|protein_coding|CODING|NM_024529.4|10|1)","K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0,0.0014,0.002,0.00,0.00,0.00,,0.028159(N),1.000(D),1.23(T),0.0851(T),0.773,1.013306,5.26,5.26,0.460000,2.113000,4.659000,0.984000,0.999000,1.000000,15.4764
synonymous_variant,KCNT2,SILENT,NM_198503.3:p.Asp1003Asp/c.3009T>C,gaT/gaC,LOW,,0.98722,1,rs977157,,,,,,chr1,196227526,196227526,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp979Asp/c.2937T>C|1111|KCNT2|protein_coding|CODING|NM_001287819.1|25|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp936Asp/c.2808T>C|1068|KCNT2|protein_coding|CODING|NM_001287820.1|25|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1003Asp/c.3009T>C|1135|KCNT2|protein_coding|CODING|NM_198503.3|26|1)",,,,,1,0.9914,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CFH,SILENT,NM_000186.3:p.Ala307Ala/c.921A>C,gcA/gcC,LOW,COSM3750723(1),0.713059,0.9504,rs1061147,,,,,,chr1,196654324,196654324,A,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala307Ala/c.921A>C|1231|CFH|protein_coding|CODING|NM_000186.3|7|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala307Ala/c.921A>C|449|CFH|protein_coding|CODING|NM_001014975.2|7|1)","K562:H3K36me3,HSMM:H3K36me3",Age_related_macular_degeneration,,,0.7096,0.7565,0.6382,0.61,0.59,0.62,,,,,,,,,,,,,,,,
missense_variant,CFH,MISSENSE,NM_000186.3:p.His402Tyr/c.1204C>T,Cat/Tat,MODERATE,COSM424915(2),0.733427,0.9514,rs1061170,1(T),"0.001,0.0(B,B)",,-1.0069(T),,chr1,196659237,196659237,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His402Tyr/c.1204C>T|1231|CFH|protein_coding|CODING|NM_000186.3|9|1),missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His402Tyr/c.1204C>T|449|CFH|protein_coding|CODING|NM_001014975.2|9|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3","Age_related_macular_degeneration_CNV,Age_related_macular_degeneration_GA,Age_related_macular_degeneration,Age_related_macular_degeneration",RCV000018015.1|RCV000018016.26,,0.7127,0.7666,0.6382,0.62,0.64,0.62,,,1.000(P),"-0.03,-0.03,-0.03(T,T,T)",0.0000(T),0.041,-2.252215,4.54,-9.09,-4.388000,-4.010000,-6.715000,0.000000,0.000000,0.000000,2.0714
synonymous_variant,CFH,SILENT,NM_000186.3:p.Ala473Ala/c.1419G>A,gcG/gcA,LOW,COSM3750724(2),0.479034,0.4246,rs2274700,,,,,,chr1,196682947,196682947,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala473Ala/c.1419G>A|1231|CFH|protein_coding|CODING|NM_000186.3|10|1),HSMM:H3K36me3,,RCV000018023.1,,0.5573,0.5389,0.4235,0.43,0.47,0.40,,,,,,,,,,,,,,,,
missense_variant,CFHR4,MISSENSE,NM_001201550.2:p.Glu125Asp/c.375G>T,gaG/gaT,MODERATE,,0.994409,1,rs10801578,0.44(T),0.0(B),,-1.0114(T),,chr1,196874356,196874356,G,T,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu125Asp/c.375G>T|578|CFHR4|protein_coding|CODING|NM_001201550.2|3|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu124Asp/c.372G>T|577|CFHR4|protein_coding|CODING|NM_001201551.1|3|1),intron_variant(MODIFIER|||c.256+2611G>T|331|CFHR4|protein_coding|CODING|NM_006684.4|2|1)",HUVEC:H3K27me3,,,,1,0.9986,1,,,,,,1.000(P),-0.1(T),0.0000(T),0.024,-1.402125,2.28,2.28,-1.241000,0.030000,0.044000,0.251000,0.005000,0.449000,5.1129
missense_variant,ASPM,MISSENSE,NM_018136.4:p.Tyr2494His/c.7480T>C,Tac/Cac,MODERATE,,0.997404,1,rs964201,1(T),"0.01,0.0(B,B)",-1.65(N),-0.9342(T),,chr1,197070901,197070901,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr2494His/c.7480T>C|3477|ASPM|protein_coding|CODING|NM_018136.4|18|1),intron_variant(MODIFIER|||c.4066-5607T>C|1892|ASPM|protein_coding|CODING|NM_001206846.1|17|1)","CD4:H2AZ,H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,RCV000020789.1|RCV000123700.1,,0.9959,0.9942,0.995,1.00,1.00,0.99,,0.000326(N),0.000(P),-0.74(T),0.0000(T),0.121,-1.060788,4.83,4.83,-0.223000,1.142000,2.999000,0.380000,1.000000,1.000000,13.6307
synonymous_variant,CRB1,SILENT,NM_201253.2:p.Leu470Leu/c.1410A>G,ctA/ctG,LOW,,0.919728,1,rs3902057,,,,,,chr1,197390368,197390368,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu358Leu/c.1074A>G|1294|CRB1|protein_coding|CODING|NM_001193640.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu401Leu/c.1203A>G|1382|CRB1|protein_coding|CODING|NM_001257965.1|8|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu470Leu/c.1410A>G|870|CRB1|protein_coding|CODING|NM_001257966.1|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu470Leu/c.1410A>G|1406|CRB1|protein_coding|CODING|NM_201253.2|6|1),non_coding_exon_variant(MODIFIER|||n.1619A>G||CRB1||CODING|NR_047563.1|6|1),non_coding_exon_variant(MODIFIER|||n.1619A>G||CRB1||CODING|NR_047564.1|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3",,,,1,0.9813,0.999,0.92,0.77,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DENND1B,SILENT,NM_001195215.1:p.Gln582Gln/c.1746G>A,caG/caA,LOW,,0.229633,0.2212,rs12142127,,,,,,chr1,197480927,197480927,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln582Gln/c.1746G>A|775|DENND1B|protein_coding|CODING|NM_001195215.1|22|1),non_coding_exon_variant(MODIFIER|||n.1831G>A||DENND1B||CODING|NR_125340.1|19|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.2556,0.2622,0.3062,0.28,0.17,0.34,,,,,,,,,,,,,,,,
missense_variant,KIF14,MISSENSE,NM_014875.2:p.Pro1633Ala/c.4897C>G,Cca/Gca,MODERATE,COSM3750739(1),0.219649,0.2302,rs12120084,0.13(T),0.079(B),1.39(L),-1.0196(T),,chr1,200522566,200522566,G,C,hom,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro1633Ala/c.4897C>G|1648|KIF14|protein_coding|CODING|NM_014875.2|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2843,0.2017,0.3917,0.31,0.10,0.41,,0.577155(N),1.000(P),-0.77(T),0.0000(T),0.044,1.670804,5.37,0.605,-0.176000,0.214000,-0.107000,0.046000,0.001000,0.002000,7.3427
synonymous_variant,KIF14,SILENT,NM_014875.2:p.Glu1340Glu/c.4020G>A,gaG/gaA,LOW,COSM3746712(2),0.563498,0.6895,rs7543730,,,,,,chr1,200534248,200534248,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1340Glu/c.4020G>A|1648|KIF14|protein_coding|CODING|NM_014875.2|25|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.5461,0.5765,0.54,0.43,0.59,,,,,,,,,,,,,,,,
synonymous_variant,KIF14,SILENT,NM_014875.2:p.Glu1032Glu/c.3096A>G,gaA/gaG,LOW,COSM3746713(1),0.766573,0.6875,rs386604231,,,,,,chr1,200558363,200558363,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1032Glu/c.3096A>G|1648|KIF14|protein_coding|CODING|NM_014875.2|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7515,0.67,0.7475,0.81,0.88,0.77,,,,,,,,,,,,,,,,
synonymous_variant,DDX59,SILENT,NM_001031725.4:p.Ser477Ser/c.1431A>G,tcA/tcG,LOW,COSM3746715(1),0.957468,1,rs6665604,,,,-1.0617(T),,chr1,200618238,200618238,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser477Ser/c.1431A>G|619|DDX59|protein_coding|CODING|NM_001031725.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9765,0.9654,0.9543,0.95,0.92,0.96,,,0.000(P),,0.0000(T),.,0.398625,6.06,-11.0,-2.476000,-3.469000,-3.286000,0.644000,0.003000,0.000000,6.0328
synonymous_variant,CACNA1S,SILENT,NM_000069.2:p.Pro1620Pro/c.4860C>T,ccC/ccT,LOW,,0.0461262,0.001,rs41267497,,,,,,chr1,201012597,201012597,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1620Pro/c.4860C>T|1873|CACNA1S|protein_coding|CODING|NM_000069.2|40|1),"NHEK:CTCF,HUVEC:H3K27me3,HUVEC:CTCF,IMR90:H3K27me3",,,,0.0143,0.0764,0.1541,0.12,0.03,0.16,,,,,,,,,,,,,,,,
missense_variant,CACNA1S,MISSENSE,NM_000069.2:p.Arg1539Cys/c.4615C>T,Cgc/Tgc,MODERATE,COSM3750744(2),0.0840655,0.0397,rs3850625,0.01(D),0.299(B),1.28(L),-0.9155(T),,chr1,201016296,201016296,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1539Cys/c.4615C>T|1873|CACNA1S|protein_coding|CODING|NM_000069.2|38|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1984,0.0879,0.1183,0.09,0.02,0.12,,0.000000(D),0.000(P),"-0.47,-0.47(T,T)",0.0062(T),0.226,3.701873,5.17,5.17,0.655000,2.575000,6.194000,0.996000,1.000000,1.000000,19.0118
synonymous_variant,CACNA1S,SILENT,NM_000069.2:p.Phe801Phe/c.2403T>C,ttT/ttC,LOW,,0.294129,0.001,rs7415038,,,,,,chr1,201038687,201038687,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe801Phe/c.2403T>C|1873|CACNA1S|protein_coding|CODING|NM_000069.2|18|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1575,0.3012,0.4215,0.47,0.51,0.45,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1S,SILENT,NM_000069.2:p.Leu522Leu/c.1564C>T,Ctg/Ttg,LOW,COSM3750745(1),0.190895,0.0367,rs4915476,,,,,,chr1,201047062,201047062,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu522Leu/c.1564C>T|1873|CACNA1S|protein_coding|CODING|NM_000069.2|11|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1043,0.2695,0.2425,0.24,0.27,0.22,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1S,SILENT,NM_000069.2:p.Gly517Gly/c.1551T>C,ggT/ggC,LOW,COSM4143154(1),0.571086,0.2302,rs4915477,,,,,,chr1,201047075,201047075,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly517Gly/c.1551T>C|1873|CACNA1S|protein_coding|CODING|NM_000069.2|11|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2761,0.6484,0.6571,0.74,0.88,0.66,,,,,,,,,,,,,,,,
missense_variant,CACNA1S,MISSENSE,NM_000069.2:p.Ala69Gly/c.206C>G,gCc/gGc,MODERATE,,0.0225639,0,rs12406479,0.12(T),0.817(P),2.32(M),-0.4087(T),,chr1,201079344,201079344,G,C,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala69Gly/c.206C>G|1873|CACNA1S|protein_coding|CODING|NM_000069.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0389,0.0259,0.0527,0.04,0.01,0.05,,0.000000(D),1.000(D),"-0.87,-0.87(T,T)",0.1735(T),0.212,4.380201,4.86,4.86,0.561000,2.388000,9.360000,0.867000,0.991000,1.000000,17.9499
synonymous_variant,TMEM9,SILENT,NM_001288571.1:p.Tyr147Tyr/c.441T>C,taT/taC,LOW,COSM146726(1),0.693091,0.626,rs8158,,,,,,chr1,201112981,201112981,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|183|TMEM9|protein_coding|CODING|NM_001288564.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|183|TMEM9|protein_coding|CODING|NM_001288565.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|183|TMEM9|protein_coding|CODING|NM_001288566.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|183|TMEM9|protein_coding|CODING|NM_001288567.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|183|TMEM9|protein_coding|CODING|NM_001288568.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|183|TMEM9|protein_coding|CODING|NM_001288569.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr125Tyr/c.375T>C|186|TMEM9|protein_coding|CODING|NM_001288570.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr147Tyr/c.441T>C|208|TMEM9|protein_coding|CODING|NM_001288571.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|183|TMEM9|protein_coding|CODING|NM_016456.4|5|1),non_coding_exon_variant(MODIFIER|||n.740T>C||TMEM9||CODING|NR_109920.1|6|1),non_coding_exon_variant(MODIFIER|||n.967T>C||TMEM9||CODING|NR_109921.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7515,0.7133,0.7644,0.73,0.66,0.77,,,,,,,,,,,,,,,,
synonymous_variant,TMEM9,SILENT,NM_001288571.1:p.Thr35Thr/c.105A>C,acA/acC,LOW,COSM4143159(1),0.939497,0.875,rs1925361,,,,,,chr1,201122947,201122947,T,G,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr35Thr/c.105A>C|208|TMEM9|protein_coding|CODING|NM_001288571.1|2|1),intron_variant(MODIFIER|||c.75+30A>C|186|TMEM9|protein_coding|CODING|NM_001288570.1|2|1),intron_variant(MODIFIER|||c.66+39A>C|183|TMEM9|protein_coding|CODING|NM_001288564.1|2|1),intron_variant(MODIFIER|||c.66+39A>C|183|TMEM9|protein_coding|CODING|NM_001288565.1|1|1),intron_variant(MODIFIER|||c.66+39A>C|183|TMEM9|protein_coding|CODING|NM_001288566.1|2|1),intron_variant(MODIFIER|||c.66+39A>C|183|TMEM9|protein_coding|CODING|NM_001288567.1|2|1),intron_variant(MODIFIER|||c.66+39A>C|183|TMEM9|protein_coding|CODING|NM_001288568.1|2|1),intron_variant(MODIFIER|||c.66+39A>C|183|TMEM9|protein_coding|CODING|NM_001288569.1|2|1),intron_variant(MODIFIER|||c.66+39A>C|183|TMEM9|protein_coding|CODING|NM_016456.4|2|1),intron_variant(MODIFIER|||n.213+39A>C||TMEM9||CODING|NR_109920.1|2|1),intron_variant(MODIFIER|||n.698+39A>C||TMEM9||CODING|NR_109921.1|1|1)","K562:ZBTB7A,CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,K562:H3K4me1,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HeLa-S3:H3K4me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Gata1,NH-A:H3K4me3,K562:Cmyc,HUVEC:H3K4me2,K562:Gata2,K562:H3K9ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9663,0.9625,0.9543,0.95,0.94,0.95,,,,,,,,,,,,,,,,
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Arg102His/c.305G>A,cGc/cAc,MODERATE,COSM3746720(2),0.732628,0.8562,rs4915221,0.25(T),,2.095(M),-1.0608(T),,chr1,201166383,201166383,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg102His/c.305G>A|3708|IGFN1|protein_coding|CODING|NM_001164586.1|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7965,0.5735,0.5547,0.63,0.77,0.57,,,0.000(P),"0.93,0.93(T,T)",0.0000(T),0.29,2.290057,5.04,3.18,-1.004000,0.545000,0.498000,0.033000,1.000000,1.000000,7.9743
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Thr119Thr/c.357T>C,acT/acC,LOW,,0.867612,0.8552,rs11589317,,,,,,chr1,201166435,201166435,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr119Thr/c.357T>C|3708|IGFN1|protein_coding|CODING|NM_001164586.1|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8691,0.7939,0.9364,0.91,0.86,0.93,,,,,,,,,,,,,,,,
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Pro135Pro/c.405G>A,ccG/ccA,LOW,COSM3750748(3),0.198482,0.256,rs1534057,,,,,,chr1,201168499,201168499,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro135Pro/c.405G>A|3708|IGFN1|protein_coding|CODING|NM_001164586.1|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2485,0.2075,0.1501,0.14,0.13,0.14,,,,,,,,,,,,,,,,
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Asp402Glu/c.1206C>A,gaC/gaA,MODERATE,COSM3984606(1),0.762979,0.6687,rs386616758,1(T),,0(N),-0.9309(T),,chr1,201175227,201175227,C,A,hom,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp402Glu/c.1206C>A|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7607,0.745,0.7217,0.75,0.84,0.71,,,0.000(P),"0.7,0.1(T,T)",0.0000(T),0.009,-1.398832,4.0,2.98,0.655000,2.050000,1.103000,0.167000,0.987000,0.030000,5.795
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Gln418Arg/c.1253A>G,cAg/cGg,MODERATE,COSM3750750(1),0.375799,0.5903,rs9651057,,,0(N),-0.9163(T),,chr1,201175274,201175274,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln418Arg/c.1253A>G|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3333,0.4063,0.4821,0.38,0.20,0.46,,,1.000(P),0.66(T),0.0000(T),0.015,1.807715,4.0,-2.08,-0.313000,-0.179000,0.064000,0.041000,0.000000,0.044000,1.3995
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Arg565Leu/c.1694G>T,cGg/cTg,MODERATE,,0.763978,0.6736,rs1341631,,,0(N),-1.0916(T),,chr1,201175715,201175715,G,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg565Leu/c.1694G>T|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7607,0.745,0.7217,0.75,0.84,0.71,,,1.000(P),0.65(T),0.0000(T),0.01,1.425839,3.9,-7.79,-3.177000,-3.963000,-2.237000,0.000000,0.000000,0.000000,4.5652
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Asp666Gly/c.1997A>G,gAc/gGc,MODERATE,,0.763778,0.6716,rs10753895,,,0(N),-1.0247(T),,chr1,201176018,201176018,A,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp666Gly/c.1997A>G|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7607,0.7464,0.7217,0.75,0.84,0.71,,,1.000(P),0.77(T),0.0000(T),0.053,1.063496,3.72,-0.938,-0.274000,-0.270000,-0.014000,0.100000,0.001000,0.000000,3.5085
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Gly696Asp/c.2087G>A,gGt/gAt,MODERATE,COSM4143160(1),0.309505,0.3095,rs12094334,,,0(N),-0.9403(T),,chr1,201176108,201176108,G,A,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly696Asp/c.2087G>A|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4131,0.3156,0.3489,0.30,0.21,0.34,,,1.000(P),0.47(T),0.0000(T),0.016,1.419146,4.06,0.0769,-0.797000,-0.175000,0.067000,0.003000,0.000000,0.128000,8.2761
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Met983Val/c.2947A>G,Atg/Gtg,MODERATE,,0.303714,0.3095,rs12063867,,,0(N),-0.9343(T),,chr1,201176968,201176968,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met983Val/c.2947A>G|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4131,0.3156,0.3509,0.29,0.20,0.34,,,1.000(P),0.76(T),0.0000(T),0.089,-0.225142,4.29,0.165,0.533000,0.232000,0.185000,0.355000,0.000000,0.000000,4.4644
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Gly1075Gly/c.3225T>C,ggT/ggC,LOW,COSM4143161(1),0.311701,0.3095,rs72751165,,,,,,chr1,201177246,201177246,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1075Gly/c.3225T>C|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4121,0.3184,0.3499,0.30,0.22,0.34,,,,,,,,,,,,,,,,
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Ala1086Val/c.3257C>T,gCg/gTg,MODERATE,,0.311502,0.3105,rs7551098,,,0(N),-0.9361(T),,chr1,201177278,201177278,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1086Val/c.3257C>T|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4121,0.3156,0.3499,0.30,0.22,0.34,,,1.000(P),0.99(T),0.0000(T),0.011,0.418537,2.91,-2.41,-3.813000,-1.134000,0.111000,0.001000,0.000000,0.001000,5.7778
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Ala1173Ser/c.3517G>T,Gct/Tct,MODERATE,,0.304113,0.3105,rs7551538,,,0(N),-0.9425(T),,chr1,201177538,201177538,G,T,het,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala1173Ser/c.3517G>T|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4131,0.3156,0.3499,0.29,0.20,0.33,,,1.000(P),0.36(T),0.0000(T),0.073,2.426853,3.18,1.23,0.462000,0.153000,-0.079000,0.058000,0.003000,0.000000,5.7763
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Arg1483Arg/c.4449G>A,agG/agA,LOW,COSM3803433(1),0.304113,0.3095,rs12757706,,,,,,chr1,201178470,201178470,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg1483Arg/c.4449G>A|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4182,0.3141,0.3499,,,,,,,,,,,,,,,,,,,
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Asp2399Gly/c.7196A>G,gAc/gGc,MODERATE,COSM4143196(1),0.324681,0.3105,rs12070918,,,0(N),-0.9400(T),,chr1,201181217,201181217,A,G,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp2399Gly/c.7196A>G|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4192,0.317,0.3499,0.31,0.26,0.34,,,1.000(P),0.34(T),0.0000(T),0.02,-0.232116,1.53,1.53,-0.747000,0.210000,-0.052000,0.050000,0.006000,0.000000,7.0609
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.Asn2401Ser/c.7202A>G,aAc/aGc,MODERATE,,0.998003,1,rs12070919,,,0(N),-0.9862(T),,chr1,201181223,201181223,A,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn2401Ser/c.7202A>G|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.999,0.99,0.99,1.00,,,1.000(P),0.63(T),0.0000(T),0.007,1.121003,2.98,0.908,-0.747000,-0.015000,-0.646000,0.007000,0.001000,0.000000,8.8248
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Gly2633Gly/c.7899G>T,ggG/ggT,LOW,,0.306909,0.3105,rs12060924,,,,-0.9580(T),,chr1,201181920,201181920,G,T,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly2633Gly/c.7899G>T|3708|IGFN1|protein_coding|CODING|NM_001164586.1|12|1),"GM06990:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:Nrsf,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,K562:Nrsf,HepG2:H3K27me3",,,,0.4182,0.3141,0.3499,0.29,0.20,0.33,,,1.000(P),,0.0000(T),.,-0.091204,3.15,1.04,0.306000,-0.135000,0.052000,0.091000,0.001000,0.000000,4.9669
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Ala2929Ala/c.8787C>T,gcC/gcT,LOW,COSM3750751(1),0.32508,0.3095,rs2282415,,,,-0.9688(T),,chr1,201183363,201183363,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2929Ala/c.8787C>T|3708|IGFN1|protein_coding|CODING|NM_001164586.1|13|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4182,0.3184,0.3479,0.31,0.27,0.33,,,1.000(P),,0.0000(T),.,0.632592,3.39,-5.38,-0.817000,-1.165000,-3.675000,0.156000,0.009000,0.000000,6.0299
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Pro2942Pro/c.8826T>C,ccT/ccC,LOW,,0.315695,0.3403,rs1568810,,,,-1.0280(T),,chr1,201183402,201183402,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2942Pro/c.8826T>C|3708|IGFN1|protein_coding|CODING|NM_001164586.1|13|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4182,0.3256,0.3509,0.29,0.22,0.33,,,0.000(P),,0.0000(T),.,2.083537,3.39,-4.06,-0.642000,-1.670000,-0.981000,0.697000,0.205000,0.001000,11.6598
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Thr2996Thr/c.8988C>T,acC/acT,LOW,,0.329872,0.3452,rs2275673,,,,-1.0545(T),,chr1,201184275,201184275,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr2996Thr/c.8988C>T|3708|IGFN1|protein_coding|CODING|NM_001164586.1|14|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4151,0.3314,0.3509,0.31,0.27,0.34,,,1.000(P),,0.0000(T),.,0.552422,4.65,-6.29,-3.288000,-2.397000,-1.251000,0.201000,0.001000,0.000000,10.8458
synonymous_variant,IGFN1,SILENT,NM_001164586.1:p.Ala3292Ala/c.9876T>C,gcT/gcC,LOW,COSM3750758(2),0.929712,0.998,rs10920144,,,,-1.0455(T),,chr1,201187764,201187764,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3292Ala/c.9876T>C|3708|IGFN1|protein_coding|CODING|NM_001164586.1|18|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9121,0.8501,0.8946,0.90,0.95,0.88,,,0.020(P),,0.0000(T),.,0.667577,4.9,-8.1,-1.814000,-1.316000,-2.244000,0.008000,0.020000,0.000000,10.5584
missense_variant,IGFN1,MISSENSE,NM_001164586.1:p.His3552Tyr/c.10654C>T,Cac/Tac,MODERATE,COSM424999(5),0.567692,0.8313,rs3738270,0.14(T),0.11(B),1.245(L),-1.0330(T),,chr1,201195119,201195119,C,T,hom,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His3552Tyr/c.10654C>T|3708|IGFN1|protein_coding|CODING|NM_001164586.1|22|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6391,0.5893,0.7038,0.54,0.29,0.67,,0.005165(N),0.000(P),0.4(T),0.0000(T),0.19,-1.017435,5.0,3.09,-0.258000,1.344000,2.889000,0.516000,0.971000,1.000000,6.5506
synonymous_variant,PKP1,SILENT,NM_000299.3:p.Lys260Lys/c.780A>G,aaA/aaG,LOW,,0.969449,1,rs1779297,,,,,,chr1,201285759,201285759,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys260Lys/c.780A>G|747|PKP1|protein_coding|CODING|NM_000299.3|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys260Lys/c.780A>G|726|PKP1|protein_coding|CODING|NM_001005337.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9969,0.9885,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PKP1,SILENT,NM_000299.3:p.Ala306Ala/c.918C>T,gcC/gcT,LOW,,0.16853,0.2302,rs1722779,,,,,,chr1,201286771,201286771,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala306Ala/c.918C>T|747|PKP1|protein_coding|CODING|NM_000299.3|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala306Ala/c.918C>T|726|PKP1|protein_coding|CODING|NM_001005337.2|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1063,0.1945,0.1978,0.18,0.13,0.21,,,,,,,,,,,,,,,,
missense_variant,PKP1,MISSENSE,NM_000299.3:p.Gly415Asp/c.1244G>A,gGc/gAc,MODERATE,COSM4143197(1),0.157348,0.2302,rs1626370,0.06(T),0.04(B),0(N),-1.0777(T),,chr1,201288955,201288955,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly415Asp/c.1244G>A|747|PKP1|protein_coding|CODING|NM_000299.3|7|1),intron_variant(MODIFIER|||c.1233-440G>A|726|PKP1|protein_coding|CODING|NM_001005337.2|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.1074,0.1859,0.1988,0.17,0.10,0.21,,0.019377(U),1.000(P),"-0.91,-0.91(T,T)",0.0001(T),0.273,-0.927896,2.9,1.92,0.491000,0.391000,0.116000,0.056000,0.004000,0.000000,7.3593
missense_variant,PKP1,MISSENSE,NM_000299.3:p.Pro424Gln/c.1271C>A,cCg/cAg,MODERATE,,0.00519169,0.001,rs41269939,0.21(T),0.0(B),-0.895(N),-0.9822(T),,chr1,201288982,201288982,C,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro424Gln/c.1271C>A|747|PKP1|protein_coding|CODING|NM_000299.3|7|1),intron_variant(MODIFIER|||c.1233-413C>A|726|PKP1|protein_coding|CODING|NM_001005337.2|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0,0.0043,0.0209,0.01,0.00,0.02,,0.030041(N),1.000(N),"-0.86,-0.86(T,T)",0.0701(T),0.095,0.529584,4.3,-4.07,0.491000,-0.277000,-0.397000,0.011000,0.000000,0.000000,6.7906
synonymous_variant,TNNT2,SILENT,NM_001276345.1:p.Ile116Ile/c.348C>T,atC/atT,LOW,COSM4143200(1),0.695088,0.5268,rs3729547,,,,,,chr1,201334382,201334382,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile116Ile/c.348C>T|295|TNNT2|protein_coding|CODING|NM_000364.3|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile106Ile/c.318C>T|288|TNNT2|protein_coding|CODING|NM_001001430.2|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile106Ile/c.318C>T|285|TNNT2|protein_coding|CODING|NM_001001431.2|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile101Ile/c.303C>T|282|TNNT2|protein_coding|CODING|NM_001001432.2|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile116Ile/c.348C>T|298|TNNT2|protein_coding|CODING|NM_001276345.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile106Ile/c.318C>T|288|TNNT2|protein_coding|CODING|NM_001276347.1|9|1),intron_variant(MODIFIER|||c.291+356C>T|255|TNNT2|protein_coding|CODING|NM_001276346.1|9|1)","GM06990:H3K27me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000036579.1|RCV000125571.1,,0.8354,0.7997,0.7416,0.68,0.61,0.72,,,,,,,,,,,,,,,,
missense_variant,LAD1,MISSENSE,NM_005558.3:p.Lys323Glu/c.967A>G,Aag/Gag,MODERATE,COSM3750761(1),0.553115,0.5188,rs386591087,1(T),"0.0,0.0(B,B)",-1.61(N),-1.0154(T),,chr1,201355522,201355522,T,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys323Glu/c.967A>G|517|LAD1|protein_coding|CODING|NM_005558.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.364,0.3847,0.4612,0.60,0.80,0.49,,0.901672(N),1.000(P),"2.88,2.87(T,T)",0.0000(T),0.015,-0.690442,4.6,1.65,-0.166000,0.206000,1.124000,0.095000,0.000000,0.267000,6.8142
missense_variant,LAD1,MISSENSE,NM_005558.3:p.Pro279Gln/c.836C>A,cCg/cAg,MODERATE,,0.086861,0.0377,rs11805972,0.53(T),"0.027,0.117(B,B)",1.525(L),-1.0469(T),,chr1,201355653,201355653,G,T,het,missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro279Gln/c.836C>A|517|LAD1|protein_coding|CODING|NM_005558.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0153,0.0389,0.0288,0.09,0.22,0.03,,0.117796(N),1.000(P),"2.65,2.64(T,T)",0.0000(T),0.039,1.681792,5.41,-10.8,-0.768000,-3.296000,-1.890000,0.029000,0.000000,0.000000,10.4961
missense_variant,LAD1,MISSENSE,NM_005558.3:p.Leu243Pro/c.728T>C,cTg/cCg,MODERATE,,0.121206,0.0387,rs12088790,0.37(T),"0.0,0.006(B,B)",-0.51(N),-0.9011(T),,chr1,201355761,201355761,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu243Pro/c.728T>C|517|LAD1|protein_coding|CODING|NM_005558.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0153,0.0447,0.0288,0.13,0.33,0.03,,0.700343(N),1.000(P),"2.61,2.59(T,T)",0.0000(T),0.028,0.584525,4.68,0.8,-0.282000,0.012000,-0.524000,0.001000,0.000000,0.000000,7.8079
synonymous_variant,LAD1,SILENT,NM_005558.3:p.Lys182Lys/c.546G>A,aaG/aaA,LOW,COSM3750762(1),0.517572,0.5179,rs2799677,,,,,,chr1,201355943,201355943,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys182Lys/c.546G>A|517|LAD1|protein_coding|CODING|NM_005558.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.363,0.3775,0.4622,0.56,0.69,0.49,,,,,,,,,,,,,,,,
synonymous_variant,TNNI1,SILENT,NM_003281.3:p.Pro2Pro/c.6G>A,ccG/ccA,LOW,,0.0852636,0.122,rs3738286,,,,,,chr1,201386916,201386916,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2Pro/c.6G>A|187|TNNI1|protein_coding|CODING|NM_003281.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2311,0.0331,0.0527,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,PHLDA3,MISSENSE,NM_012396.3:p.Arg28Gln/c.83G>A,cGg/cAg,MODERATE,COSM3749018(3),0.0181709,0,rs35383942,0.01(D),0.325(B),0.695(N),-1.0715(T),,chr1,201437832,201437832,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg28Gln/c.83G>A|127|PHLDA3|protein_coding|CODING|NM_012396.3|1|1),non_coding_exon_variant(MODIFIER|||n.468G>A||PHLDA3||CODING|NR_073080.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K9ac,HepG2:TAF1,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0051,0.0317,0.0596,0.04,0.01,0.06,,0.003044(U),0.762(N),"1.35,1.35(T,T)",0.0064(T),0.103,4.168842,3.75,2.81,0.491000,0.660000,1.854000,0.997000,0.942000,1.000000,4.4733
missense_variant,SHISA4,MISSENSE,NM_198149.2:p.Ile159Met/c.477A>G,atA/atG,MODERATE,,0.784345,0.8978,rs2250377,0.41(T),0.0(B),0(N),-1.0206(T),,chr1,201860626,201860626,A,G,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile159Met/c.477A>G|197|SHISA4|protein_coding|CODING|NM_198149.2|4|1),non_coding_exon_variant(MODIFIER|||n.517A>G||SHISA4||CODING|NR_030775.1|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7342,0.7767,0.6988,0.72,0.79,0.68,,0.009082(N),1.000(P),0.97(T),0.0000(T),0.087,0.804709,5.46,5.46,-0.215000,1.314000,1.845000,0.894000,1.000000,1.000000,12.2783
missense_variant,TIMM17A,MISSENSE,NM_006335.2:p.Val113Ile/c.337G>A,Gtt/Att,MODERATE,COSM146732(2),0.0615016,0.0377,rs4648,0.35(T),0.307(B),0.975(L),-1.0834(T),,chr1,201934578,201934578,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val113Ile/c.337G>A|171|TIMM17A|protein_coding|CODING|NM_006335.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.0793,0.0855,0.08,0.05,0.09,,0.000000(D),0.000(P),1.53(T),0.0036(T),0.178,2.962682,5.36,5.36,0.655000,2.663000,6.121000,0.997000,0.999000,1.000000,16.9249
synonymous_variant,RNPEP,SILENT,NM_020216.3:p.Gln381Gln/c.1143G>A,caG/caA,LOW,COSM4143213(2),0.308506,0.3978,rs1130790,,,,,,chr1,201969082,201969082,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln381Gln/c.1143G>A|650|RNPEP|protein_coding|CODING|NM_020216.3|6|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,NH-A:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.2076,0.438,0.4284,0.35,0.18,0.43,,,,,,,,,,,,,,,,
synonymous_variant,RNPEP,SILENT,NM_020216.3:p.Val421Val/c.1263T>C,gtT/gtC,LOW,,0.978634,1,rs4332408,,,,,,chr1,201970562,201970562,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val421Val/c.1263T>C|650|RNPEP|protein_coding|CODING|NM_020216.3|7|1),upstream_gene_variant(MODIFIER||1690|||MIR6740||NON_CODING|NR_106798.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,0.999,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ELF3,SILENT,NM_001114309.1:p.Pro191Pro/c.573T>C,ccT/ccC,LOW,COSM4143215(1),0.704273,0.7758,rs2819362,,,,,,chr1,201981862,201981862,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro191Pro/c.573T>C|371|ELF3|protein_coding|CODING|NM_001114309.1|5|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro191Pro/c.573T>C|371|ELF3|protein_coding|CODING|NM_004433.4|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3",,,,0.6738,0.6009,0.5467,0.61,0.78,0.52,,,,,,,,,,,,,,,,
missense_variant,GPR37L1,MISSENSE,NM_004767.3:p.Gly90Asp/c.269G>A,gGc/gAc,MODERATE,COSM3997145(1),0.850439,0.8353,rs3795595,0.82(T),0.0(B),-0.41(N),-0.9857(T),,chr1,202092360,202092360,G,A,hom,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly90Asp/c.269G>A|481|GPR37L1|protein_coding|CODING|NM_004767.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9223,0.83,0.9066,0.87,0.81,0.89,,0.058713(N),1.000(P),-1.25(T),0.0000(T),0.018,-1.295134,4.87,-0.436,-0.521000,-0.033000,-0.401000,0.722000,0.025000,0.000000,5.9694
synonymous_variant,GPR37L1,SILENT,NM_004767.3:p.Gly108Gly/c.324A>G,ggA/ggG,LOW,,0.851637,0.8363,rs3795596,,,,,,chr1,202092415,202092415,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly108Gly/c.324A>G|481|GPR37L1|protein_coding|CODING|NM_004767.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9223,0.8285,0.9066,0.87,0.82,0.89,,,,,,,,,,,,,,,,
synonymous_variant,GPR37L1,SILENT,NM_004767.3:p.Ser163Ser/c.489T>C,agT/agC,LOW,,0.83147,0.8353,rs7516762,,,,,,chr1,202092580,202092580,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser163Ser/c.489T>C|481|GPR37L1|protein_coding|CODING|NM_004767.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9223,0.8228,0.9066,0.85,0.76,0.89,,,,,,,,,,,,,,,,
missense_variant,LGR6,MISSENSE,NM_001017404.1:p.Ser9Leu/c.26C>T,tCa/tTa,MODERATE,COSM3746727(3),0.400359,0.3095,rs10920362,0.02(D),0.001(B),,-0.9337(T),,chr1,202183308,202183308,C,T,het,"missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser9Leu/c.26C>T|828|LGR6|protein_coding|CODING|NM_001017404.1|1|1),intron_variant(MODIFIER|||c.213-11243C>T|967|LGR6|protein_coding|CODING|NM_001017403.1|1|1),intron_variant(MODIFIER|||c.56+10305C>T|915|LGR6|protein_coding|CODING|NM_021636.2|1|1)","GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.2904,0.4366,0.4791,0.46,0.46,0.46,,,1.000(P),0.67(T),0.0000(T),0.024,0.119782,1.99,-2.73,-2.879000,-1.333000,-2.816000,0.000000,0.000000,0.000000,3.838
synonymous_variant,LGR6,SILENT,NM_001017403.1:p.Pro415Pro/c.1245C>T,ccC/ccT,LOW,COSM3746728(1),0.533946,0.7173,rs896551,,,,,,chr1,202276494,202276494,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro415Pro/c.1245C>T|967|LGR6|protein_coding|CODING|NM_001017403.1|14|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro276Pro/c.828C>T|828|LGR6|protein_coding|CODING|NM_001017404.1|12|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro363Pro/c.1089C>T|915|LGR6|protein_coding|CODING|NM_021636.2|14|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6084,0.6427,0.5447,0.44,0.31,0.50,,,,,,,,,,,,,,,,
missense_variant,LGR6,MISSENSE,NM_001017403.1:p.Val592Ala/c.1775T>C,gTc/gCc,MODERATE,COSM3930582(1),0.610024,0.7679,rs788795,0.72(T),"0.0,0.001,0.002(B,B,B)",-0.55(N),-0.9865(T),,chr1,202287206,202287206,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val592Ala/c.1775T>C|967|LGR6|protein_coding|CODING|NM_001017403.1|18|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val453Ala/c.1358T>C|828|LGR6|protein_coding|CODING|NM_001017404.1|16|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val540Ala/c.1619T>C|915|LGR6|protein_coding|CODING|NM_021636.2|18|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:HNF4A,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.7055,0.7219,0.6392,0.53,0.37,0.61,,0.752423(N),1.000(P),"-2.46,-2.46,-2.46(D,D,D)",0.0000(T),0.068,-1.164466,5.5,-5.15,0.397000,-0.551000,0.118000,0.406000,0.000000,0.000000,10.3915
synonymous_variant,LGR6,SILENT,NM_001017403.1:p.Ala702Ala/c.2106G>A,gcG/gcA,LOW,COSM3750768(2),0.527955,0.7163,rs788794,,,,,,chr1,202287537,202287537,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala702Ala/c.2106G>A|967|LGR6|protein_coding|CODING|NM_001017403.1|18|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala563Ala/c.1689G>A|828|LGR6|protein_coding|CODING|NM_001017404.1|16|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala650Ala/c.1950G>A|915|LGR6|protein_coding|CODING|NM_021636.2|18|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6074,0.6182,0.5268,0.42,0.31,0.48,,,,,,,,,,,,,,,,
synonymous_variant,LGR6,SILENT,NM_001017403.1:p.Phe794Phe/c.2382T>C,ttT/ttC,LOW,COSM4143221(1),0.610423,0.7679,rs788793,,,,,,chr1,202287813,202287813,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe794Phe/c.2382T>C|967|LGR6|protein_coding|CODING|NM_001017403.1|18|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe655Phe/c.1965T>C|828|LGR6|protein_coding|CODING|NM_001017404.1|16|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe742Phe/c.2226T>C|915|LGR6|protein_coding|CODING|NM_021636.2|18|1)","GM12878:H3K36me3,K562:H3K27me3,K562:ELF1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7055,0.7233,0.6392,0.53,0.37,0.61,,,,,,,,,,,,,,,,
synonymous_variant,UBE2T,SILENT,NM_014176.3:p.Ser5Ser/c.15A>G,tcA/tcG,LOW,COSM3750772(2),0.390575,0.2778,rs14451,,,,,,chr1,202304868,202304868,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser5Ser/c.15A>G|197|UBE2T|protein_coding|CODING|NM_014176.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3742,0.3573,0.495,0.49,0.45,0.51,,,,,,,,,,,,,,,,
synonymous_variant,SYT2,SILENT,NM_001136504.1:p.Ile399Ile/c.1197C>T,atC/atT,LOW,COSM3750774(1),0.307907,0.2927,rs504261,,,,,,chr1,202565948,202565948,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile399Ile/c.1197C>T|419|SYT2|protein_coding|CODING|NM_001136504.1|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile399Ile/c.1197C>T|419|SYT2|protein_coding|CODING|NM_177402.4|9|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.32,0.2594,0.3509,0.36,0.31,0.39,,,,,,,,,,,,,,,,
synonymous_variant,SYT2,SILENT,NM_001136504.1:p.Ser39Ser/c.117C>T,agC/agT,LOW,COSM3997152(1),0.358826,0.3621,rs1968583,,,,,,chr1,202574784,202574784,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser39Ser/c.117C>T|419|SYT2|protein_coding|CODING|NM_001136504.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser39Ser/c.117C>T|419|SYT2|protein_coding|CODING|NM_177402.4|2|1)",,,,,0.4397,0.4597,0.5746,0.40,0.16,0.53,,,,,,,,,,,,,,,,
synonymous_variant,KDM5B,SILENT,NM_006618.3:p.Pro1050Pro/c.3150C>G,ccC/ccG,LOW,,0.639577,0.7837,rs1141109,,,,,,chr1,202705455,202705455,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1050Pro/c.3150C>G|1544|KDM5B|protein_coding|CODING|NM_006618.3|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6452,0.8343,0.7714,0.64,0.38,0.78,,,,,,,,,,,,,,,,
synonymous_variant,KDM5B,SILENT,NM_006618.3:p.Tyr728Tyr/c.2184C>T,taC/taT,LOW,,0.639177,0.7837,rs1141108,,,,,,chr1,202715284,202715284,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr728Tyr/c.2184C>T|1544|KDM5B|protein_coding|CODING|NM_006618.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6442,0.8343,0.7714,0.64,0.38,0.78,,,,,,,,,,,,,,,,
synonymous_variant,KDM5B,SILENT,NM_006618.3:p.His629His/c.1887C>T,caC/caT,LOW,,0.520168,0.5208,rs1892164,,,,,,chr1,202718202,202718202,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His629His/c.1887C>T|1544|KDM5B|protein_coding|CODING|NM_006618.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5685,0.6715,0.7425,0.60,0.31,0.75,,,,,,,,,,,,,,,,
synonymous_variant,KDM5B,SILENT,NM_006618.3:p.Thr249Thr/c.747G>A,acG/acA,LOW,,0.635383,0.7679,rs3196669,,,,,,chr1,202733238,202733238,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr249Thr/c.747G>A|1544|KDM5B|protein_coding|CODING|NM_006618.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6401,0.8343,0.7714,0.64,0.38,0.78,,,,,,,,,,,,,,,,
synonymous_variant,KLHL12,SILENT,NM_021633.2:p.Thr95Thr/c.285A>G,acA/acG,LOW,COSM3997156(2),0.291733,0.5208,rs3182429,,,,,,chr1,202888947,202888947,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr95Thr/c.285A>G|568|KLHL12|protein_coding|CODING|NM_021633.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3937,0.3271,0.2326,0.19,0.12,0.23,,,,,,,,,,,,,,,,
missense_variant,TMEM183B,MISSENSE,NM_001079809.1:p.Ala80Thr/c.238G>A,Gca/Aca,MODERATE,,0.131589,0.1756,rs6678040,0.85(T),"0.001,0.001,0.001,0.001(B,B,B,B)",0.205(N),-0.9641(T),,chr1,202977809,202977809,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala80Thr/c.238G>A|376|TMEM183B|protein_coding|CODING|NM_001079809.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala80Thr/c.238G>A|376|TMEM183A|protein_coding|CODING|NM_138391.4|3|1),upstream_gene_variant(MODIFIER||1416|||LOC100506747||NON_CODING|NR_036557.1||1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.138,0.2089,0.1093,0.10,0.09,0.11,,0.002409(N),0.629(P),1.96(T),0.0000(T),0.014,1.384488,4.84,3.7,0.462000,2.223000,1.172000,0.995000,1.000000,1.000000,3.9794
missense_variant,PPFIA4,MISSENSE,NM_015053.1:p.Ala319Ser/c.955G>T,Gca/Tca,MODERATE,COSM3750776(1),0.121805,0.1577,rs61732315,0.1(T),"0.01,0.054,0.826,0.563(B,B,P,P)",2.045(M),-1.1162(T),,chr1,203028371,203028371,G,T,het,missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala319Ser/c.955G>T|701|PPFIA4|protein_coding|CODING|NM_015053.1|7|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1779,0.1196,0.1759,0.13,0.04,0.17,,0.000395(D),0.000(P),"2.17,1.85,1.82,1.84,1.82(T,T,T,T,T)",0.0002(T),0.294,3.894080,4.83,4.83,0.462000,2.495000,7.834000,0.996000,1.000000,1.000000,11.5666
synonymous_variant,ADORA1,SILENT,NM_000674.2:p.Ala102Ala/c.306T>G,gcT/gcG,LOW,COSM4143242(1),0.233626,0.1448,rs2228079,,,,,,chr1,203098275,203098275,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala102Ala/c.306T>G|326|ADORA1|protein_coding|CODING|NM_000674.2|3|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala102Ala/c.306T>G|326|ADORA1|protein_coding|CODING|NM_001048230.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.3773,0.2565,0.338,0.26,0.13,0.33,,,,,,,,,,,,,,,,
synonymous_variant,CHI3L1,SILENT,NM_001276.2:p.Cys364Cys/c.1092T>C,tgT/tgC,LOW,COSM4143245(1),0.999601,1,rs4950927,,,,-1.0612(T),,chr1,203148633,203148633,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys364Cys/c.1092T>C|383|CHI3L1|protein_coding|CODING|NM_001276.2|10|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.999,1,0.999,1.00,1.00,1.00,,,0.000(P),,0.0000(T),.,-0.265769,4.69,-6.95,-2.865000,-1.801000,-1.210000,0.410000,0.016000,0.000000,15.3056
missense_variant,CHI3L1,MISSENSE,NM_001276.2:p.Arg145Gly/c.433A>G,Aga/Gga,MODERATE,,0.373003,0.3839,rs880633,0(D),0.219(B),2.235(M),-0.9581(T),,chr1,203152801,203152801,T,C,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg145Gly/c.433A>G|383|CHI3L1|protein_coding|CODING|NM_001276.2|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4836,0.3343,0.5417,0.41,0.22,0.51,,0.000247(D),0.173(P),3.44(T),0.0000(T),0.186,1.907189,5.69,5.69,0.533000,2.153000,1.716000,0.358000,0.457000,0.970000,13.9002
missense_variant,CHIT1,MISSENSE,NM_003465.2:p.Gly102Ser/c.304G>A,Ggc/Agc,MODERATE,COSM146738(4),0.290935,0.2847,rs2297950,0(D),0.999(D),1.715(L),-0.9420(T),,chr1,203194186,203194186,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly102Ser/c.304G>A|421|CHIT1|protein_coding|CODING|NM_001270509.1|4|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly102Ser/c.304G>A|466|CHIT1|protein_coding|CODING|NM_003465.2|4|1),intron_variant(MODIFIER|||c.257+611G>A|447|CHIT1|protein_coding|CODING|NM_001256125.1|3|1),non_coding_exon_variant(MODIFIER|||n.400G>A||CHIT1||CODING|NR_045784.1|4|1),non_coding_exon_variant(MODIFIER|||n.400G>A||CHIT1||CODING|NR_045785.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000010134.1,,0.2618,0.3271,0.3231,0.29,0.27,0.29,,0.000249(D),0.000(P),3.81(T),0.0000(T),0.68,3.985328,4.5,2.59,0.655000,0.319000,4.997000,0.887000,0.309000,1.000000,7.7551
synonymous_variant,FMOD,SILENT,NM_002023.4:p.Glu79Glu/c.237G>A,gaG/gaA,LOW,,0.618411,0.6528,rs7543148,0.27(T),,,-1.0440(T),,chr1,203317162,203317162,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu79Glu/c.237G>A|376|FMOD|protein_coding|CODING|NM_002023.4|2|1),intron_variant(MODIFIER|||n.397+2999G>A||FMOD||CODING|NR_103757.1|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.68,0.7925,0.8608,0.67,0.34,0.84,,,0.000(P),,0.0000(T),.,1.634957,5.44,2.05,0.563000,0.645000,0.551000,0.996000,1.000000,0.997000,10.4696
missense_variant,OPTC,MISSENSE,NM_014359.3:p.Leu268Pro/c.803T>C,cTg/cCg,MODERATE,COSM146740(1),0.123802,0.1935,rs79523790,0.26(T),0.003(B),-0.71(N),-1.0524(T),,chr1,203472112,203472112,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu268Pro/c.803T>C|332|OPTC|protein_coding|CODING|NM_014359.3|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.093,0.0692,0.0646,0.07,0.13,0.04,,0.910411(N),0.001(P),0.46(T),0.0001(T),0.049,0.873631,4.13,0.419,0.421000,0.208000,1.284000,0.602000,0.938000,0.093000,3.2075
synonymous_variant,ATP2B4,SILENT,NM_001684.4:p.Ser37Ser/c.111A>G,tcA/tcG,LOW,,0.85004,0.999,rs1419114,,,,,,chr1,203652444,203652444,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser37Ser/c.111A>G|1170|ATP2B4|protein_coding|CODING|NM_001001396.2|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser37Ser/c.111A>G|1205|ATP2B4|protein_coding|CODING|NM_001684.4|2|1)","K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:H2BK120ac,HepG2:H3K27me3,K562:H3K4me2,CD4:H2BK12ac",,,,0.8763,0.9366,0.8976,0.83,0.69,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ATP2B4,SILENT,NM_001684.4:p.Leu106Leu/c.318T>C,ctT/ctC,LOW,,0.859824,0.999,rs2228445,,,,,,chr1,203667409,203667409,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu106Leu/c.318T>C|1170|ATP2B4|protein_coding|CODING|NM_001001396.2|3|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu106Leu/c.318T>C|1205|ATP2B4|protein_coding|CODING|NM_001684.4|3|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.8742,0.9395,0.8976,0.84,0.74,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ZBED6,SILENT,NM_001174108.1:p.Pro59Pro/c.177T>C,ccT/ccC,LOW,,0.348642,0.0585,rs872032,,,,,,chr1,203766827,203766827,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro59Pro/c.177T>C|979|ZBED6|protein_coding|CODING|NM_001174108.1|1|1),intron_variant(MODIFIER|||c.-260+1203T>C|810|ZC3H11A|protein_coding|CODING|NM_014827.4|2|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.3773,0.4121,0.504,,,,,,,,,,,,,,,,,,,
splice_donor_variant,LINC00303,,NR_027902.1:n.548T>C,,HIGH,COSN163405,0.211861,0.25,rs41264273,,,,,,chr1,204006095,204006095,A,G,het,"splice_donor_variant(HIGH|||n.548T>C||LINC00303||NON_CODING|NR_027902.1|4|1),intron_variant(MODIFIER|||n.547+2T>C||LINC00303||NON_CODING|NR_027902.1|4|1)","NHEK:CTCF,HUVEC:H3K27me3,K562:CTCF,GM12878:H3K36me3,HeLa-S3:CTCF,K562:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,H1ESC:CTCF",,,,0.2802,0.2781,0.2813,,,,,,,,,,,,,,,,,,,
missense_variant,KISS1,MISSENSE,NM_002256.3:p.Pro81Arg/c.242C>G,cCc/cGc,MODERATE,COSM3749019(8),0.329872,0.4216,rs4889,1(T),0.205(B),0.28(N),-0.9911(T),,chr1,204159787,204159787,G,C,het,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro81Arg/c.242C>G|138|KISS1|protein_coding|CODING|NM_002256.3|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,HUVEC:H3K27ac,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1",,,,0.227,0.3156,0.2545,0.21,0.26,0.19,,0.011175(N),1.000(P),-1.4(T),0.0000(T),0.025,1.760696,4.91,0.555,0.655000,0.119000,1.748000,0.061000,0.017000,0.450000,2.4672
missense_variant,PLEKHA6,MISSENSE,NM_014935.4:p.Val43Ile/c.127G>A,Gtc/Atc,MODERATE,COSM1179739(1),0.632588,0.8046,rs10900571,0.5(T),0.0(B),-1.25(N),-1.0714(T),,chr1,204237416,204237416,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val43Ile/c.127G>A|1048|PLEKHA6|protein_coding|CODING|NM_014935.4|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.546,0.7637,0.661,0.62,0.50,0.67,,0.038076(N),0.999(P),"2.77,2.77(T,T)",0.0000(T),0.064,1.203838,5.28,0.27,-0.194000,-0.138000,1.067000,0.696000,0.976000,1.000000,10.037
synonymous_variant,PLEKHA6,SILENT,NM_014935.4:p.Gly6Gly/c.18T>G,ggT/ggG,LOW,COSM146743(1),0.200479,0.2946,rs33911350,,,,,,chr1,204242838,204242838,A,C,hom,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly6Gly/c.18T>G|1048|PLEKHA6|protein_coding|CODING|NM_014935.4|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1963,0.2406,0.1769,0.16,0.15,0.17,,,,,,,,,,,,,,,,
missense_variant,PPP1R15B,MISSENSE,NM_032833.4:p.Glu363Gly/c.1088A>G,gAa/gGa,MODERATE,COSM3735950(1),0.0463259,0,rs2089891,0.2(T),0.007(B),1.5(L),-1.0032(T),,chr1,204379452,204379452,T,C,het,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu363Gly/c.1088A>G|713|PPP1R15B|protein_coding|CODING|NM_032833.4|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.0399,0.0346,0.0924,0.07,0.05,0.07,,0.843835(N),1.000(N),2.11(T),0.0026(T),0.059,1.754641,5.1,-0.117,-0.264000,0.007000,0.043000,0.070000,0.001000,0.000000,4.0526
missense_variant,PPP1R15B,MISSENSE,NM_032833.4:p.Asn308Ser/c.923A>G,aAc/aGc,MODERATE,,0.96885,1,rs3014626,1(T),0.0(B),-1.295(N),-0.9990(T),,chr1,204379617,204379617,T,C,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn308Ser/c.923A>G|713|PPP1R15B|protein_coding|CODING|NM_032833.4|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,1,0.9914,0.998,0.97,0.91,1.00,,0.241095(N),1.000(P),1.89(T),0.0000(T),0.024,-0.303823,5.07,1.5,-0.215000,-0.231000,0.016000,0.946000,0.089000,0.220000,4.3173
missense_variant,PIK3C2B,MISSENSE,NM_002646.3:p.Arg315Trp/c.943C>T,Cgg/Tgg,MODERATE,,0.0183706,0.001,rs45492196,0(D),"0.711,0.23(P,B)",1.39(L),-0.8720(T),,chr1,204434438,204434438,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg315Trp/c.943C>T|1634|PIK3C2B|protein_coding|CODING|NM_002646.3|4|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0184,0.0202,0.0537,0.04,0.01,0.05,,0.440488(N),0.927(D),"0.04,0.11(T,T)",0.0476(T),0.436,3.704108,5.24,3.35,0.655000,0.586000,1.269000,0.941000,0.990000,0.999000,2.2963
synonymous_variant,PIK3C2B,SILENT,NM_002646.3:p.Pro199Pro/c.597G>A,ccG/ccA,LOW,,0.728035,0.8194,rs1124777,,,,,,chr1,204438334,204438334,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro199Pro/c.597G>A|1634|PIK3C2B|protein_coding|CODING|NM_002646.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.91,0.8948,0.9841,0.78,0.37,0.98,,,,,,,,,,,,,,,,
synonymous_variant,PIK3C2B,SILENT,NM_002646.3:p.Leu96Leu/c.288C>A,ctC/ctA,LOW,,0.727236,0.8194,rs1553921,,,,,,chr1,204438643,204438643,G,T,hom,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu96Leu/c.288C>A|1634|PIK3C2B|protein_coding|CODING|NM_002646.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.911,0.8963,0.9841,0.78,0.37,0.98,,,,,,,,,,,,,,,,
synonymous_variant,LRRN2,SILENT,NM_006338.2:p.Asp627Asp/c.1881C>T,gaC/gaT,LOW,COSM1748102(4),0.294129,0.3383,rs3747632,,,,,,chr1,204587240,204587240,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp627Asp/c.1881C>T|713|LRRN2|protein_coding|CODING|NM_006338.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp627Asp/c.1881C>T|713|LRRN2|protein_coding|CODING|NM_201630.1|2|1)","GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.317,0.5014,0.4294,0.33,0.10,0.45,,,,,,,,,,,,,,,,
synonymous_variant,LRRN2,SILENT,NM_006338.2:p.Asn151Asn/c.453C>T,aaC/aaT,LOW,,0.00419329,0,rs34224191,,,,,,chr1,204588668,204588668,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn151Asn/c.453C>T|713|LRRN2|protein_coding|CODING|NM_006338.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn151Asn/c.453C>T|713|LRRN2|protein_coding|CODING|NM_201630.1|2|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0086,0.0119,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,NFASC,SILENT,NM_001005388.2:p.Val518Val/c.1554C>A,gtC/gtA,LOW,COSM3750791(1),0.467652,0.6716,rs2246662,,,,,,chr1,204943947,204943947,C,A,het,"synonymous_variant(LOW|SILENT|gtC/gtA|p.Val518Val/c.1554C>A|1240|NFASC|protein_coding|CODING|NM_001005388.2|14|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val518Val/c.1554C>A|619|NFASC|protein_coding|CODING|NM_001005389.1|14|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val529Val/c.1587C>A|1189|NFASC|protein_coding|CODING|NM_001160331.1|12|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val529Val/c.1587C>A|1174|NFASC|protein_coding|CODING|NM_001160332.1|14|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val512Val/c.1536C>A|613|NFASC|protein_coding|CODING|NM_001160333.1|13|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val529Val/c.1587C>A|1169|NFASC|protein_coding|CODING|NM_015090.3|14|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6309,0.5403,0.4125,0.33,0.22,0.39,,,0.000(P),,,.,1.362910,5.8,5.8,0.485000,2.764000,1.261000,0.990000,1.000000,1.000000,15.3475
synonymous_variant,NFASC,SILENT,NM_001005389.1:p.Pro614Pro/c.1842A>G,ccA/ccG,LOW,,0.0920527,0.0089,rs6657372,,,,,,chr1,204945934,204945934,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro614Pro/c.1842A>G|619|NFASC|protein_coding|CODING|NM_001005389.1|16|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro608Pro/c.1824A>G|613|NFASC|protein_coding|CODING|NM_001160333.1|15|1),intron_variant(MODIFIER|||c.1831+11A>G|1240|NFASC|protein_coding|CODING|NM_001005388.2|16|1),intron_variant(MODIFIER|||c.1864+11A>G|1189|NFASC|protein_coding|CODING|NM_001160331.1|14|1),intron_variant(MODIFIER|||c.1864+11A>G|1174|NFASC|protein_coding|CODING|NM_001160332.1|16|1),intron_variant(MODIFIER|||c.1864+11A>G|1169|NFASC|protein_coding|CODING|NM_015090.3|16|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0654,0.0648,0.0706,0.15,0.22,0.11,,,,,,,,,,,,,,,,
synonymous_variant,NFASC,SILENT,NM_001005388.2:p.Pro716Pro/c.2148A>G,ccA/ccG,LOW,,0.0970447,0.0139,rs6667532,,,,-0.9601(T),,chr1,204948659,204948659,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro716Pro/c.2148A>G|1240|NFASC|protein_coding|CODING|NM_001005388.2|19|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro727Pro/c.2181A>G|1189|NFASC|protein_coding|CODING|NM_001160331.1|17|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro712Pro/c.2136A>G|1174|NFASC|protein_coding|CODING|NM_001160332.1|18|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro712Pro/c.2136A>G|1169|NFASC|protein_coding|CODING|NM_015090.3|18|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0767,0.0692,0.0775,0.15,0.22,0.12,,,0.000(P),,0.0000(T),.,0.893166,5.24,-10.5,-1.664000,-5.484000,-2.604000,0.885000,0.002000,0.000000,11.333
synonymous_variant,NFASC,SILENT,NM_001005388.2:p.Ala1103Ala/c.3309G>A,gcG/gcA,LOW,,0.0565096,0.0179,rs55678495,,,,-1.0253(T),,chr1,204978704,204978704,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1103Ala/c.3309G>A|1240|NFASC|protein_coding|CODING|NM_001005388.2|28|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1052Ala/c.3156G>A|1189|NFASC|protein_coding|CODING|NM_001160331.1|25|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1037Ala/c.3111G>A|1174|NFASC|protein_coding|CODING|NM_001160332.1|26|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1032Ala/c.3096G>A|1169|NFASC|protein_coding|CODING|NM_015090.3|25|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0348,0.0951,0.1581,0.12,0.03,0.16,,,0.000(P),,0.0002(T),.,1.221317,5.26,-6.38,-0.142000,-2.009000,-2.169000,0.995000,0.361000,0.000000,0.6603
missense_variant,CNTN2,MISSENSE,NM_005076.3:p.Ala145Thr/c.433G>A,Gct/Act,MODERATE,COSM3746743(2),0.293331,0.4831,rs2275697,0.06(T),"0.002,0.002,0.006(B,B,B)",1.915(M),-1.0020(T),,chr1,205027737,205027737,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala145Thr/c.433G>A|1040|CNTN2|protein_coding|CODING|NM_005076.3|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4663,0.2781,0.1511,0.15,0.15,0.16,,0.023559(N),1.000(P),-1.15(T),0.0000(T),0.014,1.852187,4.8,2.46,-0.381000,-0.047000,2.103000,0.652000,0.865000,0.754000,8.8588
missense_variant,CNTN2,MISSENSE,NM_005076.3:p.Pro366Leu/c.1097C>T,cCt/cTt,MODERATE,COSM3750795(1),0.551118,0.876,rs2229866,0.03(D),"0.023,0.014(B,B)",2.04(M),-0.9571(T),,chr1,205031116,205031116,C,T,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro366Leu/c.1097C>T|1040|CNTN2|protein_coding|CODING|NM_005076.3|9|1),"NHEK:CTCF,HeLa-S3:DNase1,HUVEC:H3K27me3,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NHEK:H3K27me3,NH-A:CTCF,IMR90:H3K27me3,HepG2:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1",,,,0.7372,0.5591,0.339,0.34,0.34,0.34,,0.000078(D),0.000(P),-0.3(T),0.0000(T),0.222,4.055142,4.94,4.94,0.557000,2.284000,4.643000,0.994000,0.999000,1.000000,17.7437
synonymous_variant,TMEM81,SILENT,NM_203376.1:p.Leu170Leu/c.510C>T,ctC/ctT,LOW,,0.798722,0.9762,rs4950979,,,,,,chr1,205052939,205052939,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu170Leu/c.510C>T|255|TMEM81|protein_coding|CODING|NM_203376.1|1|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9243,0.8718,0.84,0.76,0.56,0.86,,,,,,,,,,,,,,,,
missense_variant,TMEM81,MISSENSE,NM_203376.1:p.Arg77Gln/c.230G>A,cGg/cAg,MODERATE,,0.817292,0.9762,rs4951168,0.87(T),0.0(B),-1.175(N),-0.9638(T),,chr1,205053219,205053219,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg77Gln/c.230G>A|255|TMEM81|protein_coding|CODING|NM_203376.1|1|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9254,0.889,0.8489,0.78,0.60,0.86,,0.003936(N),1.000(P),1.45(T),0.0000(T),0.035,0.162296,5.5,5.5,-0.360000,1.039000,0.259000,0.833000,0.995000,0.074000,6.9894
missense_variant,DSTYK,MISSENSE,NM_015375.2:p.Cys641Arg/c.1921T>C,Tgt/Cgt,MODERATE,,0.961062,1,rs3851294,0.86(T),"0.0,0.0,0.0(B,B,B)",-0.69(N),-0.9479(T),,chr1,205130413,205130413,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys641Arg/c.1921T>C|929|DSTYK|protein_coding|CODING|NM_015375.2|7|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys641Arg/c.1921T>C|884|DSTYK|protein_coding|CODING|NM_199462.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9571,0.9424,0.8946,0.93,0.98,0.90,,0.000016(N),0.000(P),"-0.95,-1.01(T,T)",0.0000(T),0.099,0.396542,5.27,5.27,-0.226000,1.245000,4.190000,0.974000,1.000000,1.000000,7.4532
synonymous_variant,TMCC2,SILENT,NM_014858.3:p.Ala315Ala/c.945A>G,gcA/gcG,LOW,COSM3997173(1),0.14976,0.0516,rs1768586,,,,,,chr1,205238275,205238275,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala237Ala/c.711A>G|631|TMCC2|protein_coding|CODING|NM_001242925.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala90Ala/c.270A>G|484|TMCC2|protein_coding|CODING|NM_001297611.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala75Ala/c.225A>G|469|TMCC2|protein_coding|CODING|NM_001297613.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala315Ala/c.945A>G|709|TMCC2|protein_coding|CODING|NM_014858.3|3|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.0736,0.1902,0.3549,0.28,0.15,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TMCC2,SILENT,NM_014858.3:p.Gly400Gly/c.1200C>T,ggC/ggT,LOW,COSM3750800(4),0.125799,0.0377,rs1779411,,,,,,chr1,205238530,205238530,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly322Gly/c.966C>T|631|TMCC2|protein_coding|CODING|NM_001242925.1|3|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly175Gly/c.525C>T|484|TMCC2|protein_coding|CODING|NM_001297611.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly160Gly/c.480C>T|469|TMCC2|protein_coding|CODING|NM_001297613.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly400Gly/c.1200C>T|709|TMCC2|protein_coding|CODING|NM_014858.3|3|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0726,0.1816,0.3549,0.26,0.07,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TMCC2,SILENT,NM_014858.3:p.Tyr562Tyr/c.1686C>T,taC/taT,LOW,COSM3750804(2),0.161941,0.0516,rs1668867,,,,,,chr1,205240251,205240251,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr484Tyr/c.1452C>T|631|TMCC2|protein_coding|CODING|NM_001242925.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr337Tyr/c.1011C>T|484|TMCC2|protein_coding|CODING|NM_001297611.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr322Tyr/c.966C>T|469|TMCC2|protein_coding|CODING|NM_001297613.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr562Tyr/c.1686C>T|709|TMCC2|protein_coding|CODING|NM_014858.3|4|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K27me3,HeLa-S3:Max,K562:H3K36me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K4me1,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:Cfos,HUVEC:H3K4me1,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.0736,0.1931,0.3549,0.30,0.19,0.36,,,,,,,,,,,,,,,,
synonymous_variant,NUAK2,SILENT,NM_030952.1:p.Pro441Pro/c.1323C>G,ccC/ccG,LOW,COSM1473304(2),0.076278,0.001,rs41264881,,,,,,chr1,205273142,205273142,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro441Pro/c.1323C>G|628|NUAK2|protein_coding|CODING|NM_030952.1|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0613,0.1571,0.1501,0.13,0.07,0.15,,,,,,,,,,,,,,,,
synonymous_variant,NUAK2,SILENT,NM_030952.1:p.Gly195Gly/c.585T>C,ggT/ggC,LOW,,0.979233,1,rs4951197,,,,,,chr1,205275421,205275421,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly195Gly/c.585T>C|628|NUAK2|protein_coding|CODING|NM_030952.1|5|1),"H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,0.999,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KLHDC8A,SILENT,NM_001271863.1:p.Phe248Phe/c.744C>T,ttC/ttT,LOW,COSM3750808(1),0.183307,0.0317,rs1105385,,,,,,chr1,205308335,205308335,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe248Phe/c.744C>T|350|KLHDC8A|protein_coding|CODING|NM_001271863.1|7|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe248Phe/c.744C>T|350|KLHDC8A|protein_coding|CODING|NM_001271864.1|5|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe248Phe/c.744C>T|350|KLHDC8A|protein_coding|CODING|NM_001271865.1|6|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe248Phe/c.744C>T|350|KLHDC8A|protein_coding|CODING|NM_018203.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2035,0.1354,0.2942,0.28,0.22,0.30,,,,,,,,,,,,,,,,
synonymous_variant,KLHDC8A,SILENT,NM_001271863.1:p.Arg237Arg/c.711G>A,cgG/cgA,LOW,COSM3750809(1),0.180112,0.0308,rs1105387,,,,,,chr1,205308368,205308368,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg237Arg/c.711G>A|350|KLHDC8A|protein_coding|CODING|NM_001271863.1|7|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg237Arg/c.711G>A|350|KLHDC8A|protein_coding|CODING|NM_001271864.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg237Arg/c.711G>A|350|KLHDC8A|protein_coding|CODING|NM_001271865.1|6|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg237Arg/c.711G>A|350|KLHDC8A|protein_coding|CODING|NM_018203.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2025,0.134,0.2813,0.27,0.22,0.30,,,,,,,,,,,,,,,,
synonymous_variant,CDK18,SILENT,NM_212503.2:p.Val92Val/c.276A>G,gtA/gtG,LOW,,0.921326,0.7659,rs7529442,,,,,,chr1,205492756,205492756,A,G,hom,"splice_region_variant(LOW|||c.274A>G|474|CDK18|protein_coding|CODING|NM_002596.3|3|1),splice_region_variant(LOW|||c.274A>G|474|CDK18|protein_coding|CODING|NM_212502.2|3|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val92Val/c.276A>G|504|CDK18|protein_coding|CODING|NM_212503.2|3|1),intron_variant(MODIFIER|||c.273+3A>G|474|CDK18|protein_coding|CODING|NM_002596.3|3|1),intron_variant(MODIFIER|||c.273+3A>G|474|CDK18|protein_coding|CODING|NM_212502.2|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9847,0.9352,0.9642,0.96,0.95,0.97,,,,,,,,,,,,,,,,
synonymous_variant,SLC41A1,SILENT,NM_173854.4:p.Asn252Asn/c.756C>T,aaC/aaT,LOW,COSM1338233(1),0.141374,0.003,rs708727,,,,,,chr1,205767885,205767885,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn252Asn/c.756C>T|513|SLC41A1|protein_coding|CODING|NM_173854.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1196,0.2291,0.3966,0.30,0.08,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SLC41A1,SILENT,NM_173854.4:p.Thr113Thr/c.339C>T,acC/acT,LOW,COSM146744(1),0.276558,0.5198,rs11240569,,,,,,chr1,205779231,205779231,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr113Thr/c.339C>T|513|SLC41A1|protein_coding|CODING|NM_173854.4|2|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.4274,0.1873,0.2883,0.21,0.06,0.29,,,,,,,,,,,,,,,,
missense_variant,PM20D1,MISSENSE,NM_152491.4:p.Ile380Thr/c.1139T>C,aTt/aCt,MODERATE,COSM3746746(1),0.281749,0.0129,rs1361754,0.54(T),0.015(B),0.255(N),-0.9078(T),,chr1,205801872,205801872,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile380Thr/c.1139T>C|502|PM20D1|protein_coding|CODING|NM_152491.4|11|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:ELF1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2004,0.3112,0.5219,0.48,0.40,0.52,,0.000974(N),1.000(P),0.27(T),0.0000(T),0.118,-2.402190,4.98,-0.108,-0.274000,-0.048000,0.906000,0.069000,0.270000,0.852000,7.4869
missense_variant,PM20D1,MISSENSE,NM_152491.4:p.Arg153Trp/c.457C>T,Cgg/Tgg,MODERATE,,0.2498,0.255,rs1104899,0.01(D),0.962(D),3.38(M),-1.0218(T),,chr1,205814485,205814485,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg153Trp/c.457C>T|502|PM20D1|protein_coding|CODING|NM_152491.4|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3252,0.2536,0.2515,0.23,0.20,0.25,,0.000000(D),0.000(P),0.06(T),0.0001(T),0.367,2.027395,5.85,3.96,-0.254000,0.793000,2.648000,0.005000,0.946000,0.998000,5.2168
missense_variant,PM20D1,MISSENSE,NM_152491.4:p.Ile149Val/c.445A>G,Atc/Gtc,MODERATE,,0.838458,0.7411,rs1891460,0.37(T),0.0(B),-0.945(N),-1.0255(T),,chr1,205814497,205814497,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile149Val/c.445A>G|502|PM20D1|protein_coding|CODING|NM_152491.4|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7914,0.8386,0.9344,0.92,0.88,0.95,,0.000014(N),1.000(P),3.21(T),0.0000(T),0.037,0.961449,6.04,3.65,-1.493000,0.157000,4.731000,0.000000,0.970000,1.000000,9.0158
synonymous_variant,SLC26A9,SILENT,NM_134325.2:p.Pro874Pro/c.2622A>G,ccA/ccG,LOW,,,,rs9438438,,,,,,chr1,205884062,205884062,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro874Pro/c.2622A>G|887|SLC26A9|protein_coding|CODING|NM_134325.2|22|1),3_prime_UTR_variant(MODIFIER||423|c.*423A>G|791|SLC26A9|protein_coding|CODING|NM_052934.3|21|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.11,0.16,0.09,,,,,,,,,,,,,,,,
missense_variant,SLC26A9,MISSENSE,NM_134325.2:p.Arg804Gly/c.2410A>G,Agg/Ggg,MODERATE,,0.154153,0,rs6669481,0.13(T),"0.0,0.005(B,B)",0(N),-0.9829(T),,chr1,205884274,205884274,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg804Gly/c.2410A>G|887|SLC26A9|protein_coding|CODING|NM_134325.2|22|1),3_prime_UTR_variant(MODIFIER||211|c.*211A>G|791|SLC26A9|protein_coding|CODING|NM_052934.3|21|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0123,0.0879,0.1004,0.20,0.40,0.10,,0.000351(N),1.000(P),"-3.27,-3.27(D,D)",0.0000(T),0.021,1.118803,3.33,0.714,0.379000,-0.210000,0.462000,0.019000,0.000000,0.000000,3.4704
missense_variant,SLC26A9,MISSENSE,NM_134325.2:p.His748Arg/c.2243A>G,cAc/cGc,MODERATE,COSM3750816(1),0.076278,0,rs16856462,0.61(T),"0.0,0.0(B,B)",-0.205(N),-0.7434(T),,chr1,205887981,205887981,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His748Arg/c.2243A>G|791|SLC26A9|protein_coding|CODING|NM_052934.3|19|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His748Arg/c.2243A>G|887|SLC26A9|protein_coding|CODING|NM_134325.2|19|1)","NHEK:CTCF,GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3",,,,0.0235,0.0663,0.0805,0.11,0.17,0.08,,0.056944(N),1.000(P),"-2.97,-2.92,-2.97(D,D,D)",0.0023(T),0.009,-3.212806,5.09,-10.2,-2.318000,-4.527000,-3.067000,0.001000,0.000000,0.000000,12.1042
synonymous_variant,SLC26A9,SILENT,NM_134325.2:p.Val695Val/c.2085G>A,gtG/gtA,LOW,COSM3750819(1),0.047524,0.001,rs16856470,,,,,,chr1,205889329,205889329,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val695Val/c.2085G>A|791|SLC26A9|protein_coding|CODING|NM_052934.3|18|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val695Val/c.2085G>A|887|SLC26A9|protein_coding|CODING|NM_134325.2|18|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HSMM:CTCF,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3",,,,0.0245,0.0605,0.0785,0.08,0.08,0.08,,,,,,,,,,,,,,,,
synonymous_variant,SLC26A9,SILENT,NM_134325.2:p.Ala396Ala/c.1188T>C,gcT/gcC,LOW,COSM3750821(1),0.0758786,0,rs34803033,,,,,,chr1,205896647,205896647,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala396Ala/c.1188T>C|791|SLC26A9|protein_coding|CODING|NM_052934.3|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala396Ala/c.1188T>C|887|SLC26A9|protein_coding|CODING|NM_134325.2|10|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0215,0.0605,0.0755,0.11,0.17,0.08,,,,,,,,,,,,,,,,
synonymous_variant,CTSE,SILENT,NM_001910.3:p.Phe233Phe/c.699T>C,ttT/ttC,LOW,COSM3750823(1),0.175519,0.0169,rs61742539,,,,,,chr1,206327510,206327510,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe233Phe/c.699T>C|396|CTSE|protein_coding|CODING|NM_001910.3|6|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe233Phe/c.699T>C|363|CTSE|protein_coding|CODING|NM_148964.2|6|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0501,0.1628,0.2038,0.24,0.37,0.18,,,,,,,,,,,,,,,,
synonymous_variant,CTSE,SILENT,NM_001910.3:p.Pro290Pro/c.870T>C,ccT/ccC,LOW,COSM3750824(1),0.184505,0.0169,rs41302235,,,,,,chr1,206328803,206328803,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro290Pro/c.870T>C|396|CTSE|protein_coding|CODING|NM_001910.3|7|1),intron_variant(MODIFIER|||c.786-159T>C|363|CTSE|protein_coding|CODING|NM_148964.2|6|1)","CD4:H2AZ,HUVEC:H3K27me3,CD4:H3K4me1,CD4:H4K5ac,IMR90:H3K27me3,GM12878:H3K4me1,GM12878:H3K4me2",,,,0.0634,0.1671,0.2107,0.25,0.39,0.19,,,,,,,,,,,,,,,,
missense_variant,SRGAP2,MISSENSE,NM_015326.4:p.Ala21Val/c.62C>T,gCg/gTg,MODERATE,,,,rs201036189,,,,-0.2266(T),,chr1,206516261,206516261,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala21Val/c.62C>T|983|SRGAP2|protein_coding|CODING|NM_001170637.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala21Val/c.62C>T|371|SRGAP2B|protein_coding|CODING|NM_001271870.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala21Val/c.62C>T|371|SRGAP2C|protein_coding|CODING|NM_001271872.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala21Val/c.62C>T|702|SRGAP2|protein_coding|CODING|NM_001300952.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala21Val/c.62C>T|984|SRGAP2|protein_coding|CODING|NM_015326.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,0.2932(T),.,3.655335,4.88,4.88,0.556000,2.266000,2.370000,0.991000,1.000000,1.000000,12.5128
missense_variant,SRGAP2,MISSENSE,NM_015326.4:p.Ser149Pro/c.445T>C,Tca/Cca,MODERATE,,0.494409,0.4851,rs2919105,,,,-0.8297(T),,chr1,206566904,206566904,T,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser149Pro/c.445T>C|983|SRGAP2|protein_coding|CODING|NM_001170637.3|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser149Pro/c.445T>C|371|SRGAP2B|protein_coding|CODING|NM_001271870.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser149Pro/c.445T>C|371|SRGAP2C|protein_coding|CODING|NM_001271872.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser149Pro/c.445T>C|702|SRGAP2|protein_coding|CODING|NM_001300952.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser149Pro/c.445T>C|984|SRGAP2|protein_coding|CODING|NM_015326.4|4|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.445T>C|983|SRGAP2|protein_coding|CODING|NM_001170637.3|4|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.445T>C|371|SRGAP2B|protein_coding|CODING|NM_001271870.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.445T>C|371|SRGAP2C|protein_coding|CODING|NM_001271872.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.445T>C|702|SRGAP2|protein_coding|CODING|NM_001300952.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.445T>C|984|SRGAP2|protein_coding|CODING|NM_015326.4|4|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||n.284T>C||SRGAP2D||NON_CODING|NR_120535.1|3|1),non_coding_exon_variant(MODIFIER|||n.284T>C||SRGAP2D||NON_CODING|NR_120535.1|3|1)","NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K4me1,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:Ap2alpha,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HMEC:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.5,0.4942,0.495,,,,,,,,0.1318(T),.,2.485071,5.59,4.65,-0.227000,0.682000,0.439000,0.967000,1.000000,0.993000,6.9301
missense_variant,SRGAP2,MISSENSE,NM_015326.4:p.Gly420Ser/c.1258G>A,Ggt/Agt,MODERATE,COSM1338270(1),0.52496,0.7024,rs2297539,,,,-0.9902(T),,chr1,206603535,206603535,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly419Ser/c.1255G>A|983|SRGAP2|protein_coding|CODING|NM_001170637.3|11|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly419Ser/c.1255G>A|702|SRGAP2|protein_coding|CODING|NM_001300952.1|11|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly420Ser/c.1258G>A|984|SRGAP2|protein_coding|CODING|NM_015326.4|11|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HSMM:H3K27ac,K562:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3",,,,0.5542,0.5634,0.4334,0.44,0.40,0.45,,,0.711(P),,0.0000(T),.,1.205469,5.8,1.62,0.655000,0.796000,1.440000,0.996000,1.000000,1.000000,4.5963
missense_variant,SRGAP2,MISSENSE,NM_015326.4:p.Val661Ile/c.1981G>A,Gtc/Atc,MODERATE,COSM4143276(1),0.346046,0.2708,rs11120575,,,,-0.8962(T),,chr1,206626607,206626607,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val660Ile/c.1978G>A|983|SRGAP2|protein_coding|CODING|NM_001170637.3|17|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val660Ile/c.1978G>A|702|SRGAP2|protein_coding|CODING|NM_001300952.1|17|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val661Ile/c.1981G>A|984|SRGAP2|protein_coding|CODING|NM_015326.4|17|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3947,0.3948,0.5338,0.43,0.25,0.51,,,0.711(P),,0.0000(T),.,1.584470,5.62,5.62,0.655000,2.633000,1.812000,0.998000,1.000000,1.000000,18.6495
missense_variant,SRGAP2,MISSENSE,NM_015326.4:p.Arg874Gly/c.2620A>G,Aga/Gga,MODERATE,COSM3997180(1),0.209465,0.0675,rs17018890,,,,-1.0753(T),,chr1,206634429,206634429,A,G,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg873Gly/c.2617A>G|983|SRGAP2|protein_coding|CODING|NM_001170637.3|20|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg874Gly/c.2620A>G|984|SRGAP2|protein_coding|CODING|NM_015326.4|20|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3016,0.17,0.2406,0.25,0.22,0.26,,,0.729(P),,0.0000(T),.,0.570271,6.04,-12.1,0.459000,-2.005000,-0.442000,0.953000,0.286000,0.452000,4.3316
synonymous_variant,IKBKE,SILENT,NM_014002.3:p.Gln52Gln/c.156A>G,caA/caG,LOW,COSM4143277(1),0.999401,1,rs1539242,,,,,,chr1,206647742,206647742,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln52Gln/c.156A>G|657|IKBKE|protein_coding|CODING|NM_001193322.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln52Gln/c.156A>G|716|IKBKE|protein_coding|CODING|NM_014002.3|4|1),5_prime_UTR_variant(MODIFIER||493|c.-100A>G|631|IKBKE|protein_coding|CODING|NM_001193321.1|3|1),upstream_gene_variant(MODIFIER||404|||MIR6769B||NON_CODING|NR_106919.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,0.997,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,IKBKE,SILENT,NM_014002.3:p.Ile67Ile/c.201T>C,atT/atC,LOW,,0.899161,0.9732,rs1539243,,,,,,chr1,206647787,206647787,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile67Ile/c.201T>C|657|IKBKE|protein_coding|CODING|NM_001193322.1|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile67Ile/c.201T>C|716|IKBKE|protein_coding|CODING|NM_014002.3|4|1),5_prime_UTR_variant(MODIFIER||448|c.-55T>C|631|IKBKE|protein_coding|CODING|NM_001193321.1|3|1),upstream_gene_variant(MODIFIER||359|||MIR6769B||NON_CODING|NR_106919.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8998,0.9207,0.835,0.85,0.87,0.83,,,,,,,,,,,,,,,,
synonymous_variant,IKBKE,SILENT,NM_014002.3:p.Thr239Thr/c.717G>A,acG/acA,LOW,COSM425146(2),0.315495,0.6131,rs2297545,,,,,,chr1,206651107,206651107,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr154Thr/c.462G>A|631|IKBKE|protein_coding|CODING|NM_001193321.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr239Thr/c.717G>A|657|IKBKE|protein_coding|CODING|NM_001193322.1|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr239Thr/c.717G>A|716|IKBKE|protein_coding|CODING|NM_014002.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2526,0.402,0.2286,0.19,0.16,0.21,,,,,,,,,,,,,,,,
synonymous_variant,RASSF5,SILENT,NM_182663.3:p.Leu16Leu/c.48A>C,ctA/ctC,LOW,COSM1338281(15),0.953674,1,rs2095124,,,,,,chr1,206680983,206680983,A,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu16Leu/c.48A>C|418|RASSF5|protein_coding|CODING|NM_182663.3|1|1),synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu16Leu/c.48A>C|336|RASSF5|protein_coding|CODING|NM_182664.3|1|1)","H1ESC:PolII,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K4me3,CD4:DNase1,HUVEC:PolII,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9693,0.9323,0.8519,0.89,0.97,0.85,,,,,,,,,,,,,,,,
synonymous_variant,RASSF5,SILENT,NM_182663.3:p.Val189Val/c.567G>A,gtG/gtA,LOW,,0.0117812,0,rs79017047,,,,,,chr1,206711610,206711610,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val189Val/c.567G>A|418|RASSF5|protein_coding|CODING|NM_182663.3|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val189Val/c.567G>A|336|RASSF5|protein_coding|CODING|NM_182664.3|2|1)","HUVEC:H3K27me3,NHEK:H3K36me3",,,,0.002,0.0259,0.0348,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,EIF2D,SILENT,NM_006893.2:p.Pro302Pro/c.906T>C,ccT/ccC,LOW,,0.9998,1,rs6662929,,,,,,chr1,206773659,206773659,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro178Pro/c.534T>C|460|EIF2D|protein_coding|CODING|NM_001201478.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro302Pro/c.906T>C|584|EIF2D|protein_coding|CODING|NM_006893.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MAPKAPK2,SILENT,NM_032960.3:p.Thr317Thr/c.951C>T,acC/acT,LOW,COSM3750827(1),0.195487,0.0526,rs4073250,,,,,,chr1,206905043,206905043,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr317Thr/c.951C>T|370|MAPKAPK2|protein_coding|CODING|NM_004759.4|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr317Thr/c.951C>T|400|MAPKAPK2|protein_coding|CODING|NM_032960.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3558,0.1729,0.2137,0.19,0.19,0.19,,,,,,,,,,,,,,,,
missense_variant,IL19,MISSENSE,NM_153758.2:p.Phe213Ser/c.638T>C,tTc/tCc,MODERATE,COSM3746747(1),0.672923,0.3363,rs2243191,1(T),"0.0,0.0(B,B)",-1.265(N),-0.9683(T),,chr1,207015957,207015957,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe175Ser/c.524T>C|177|IL19|protein_coding|CODING|NM_013371.3|7|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe213Ser/c.638T>C|215|IL19|protein_coding|CODING|NM_153758.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7209,0.6729,0.7724,0.80,0.83,0.78,,0.288344(N),1.000(P),"1.2,1.44(T,T)",0.0000(T),0.076,-0.574023,5.62,4.71,-0.119000,0.870000,0.253000,0.000000,0.001000,0.000000,9.2473
missense_variant,PIGR,MISSENSE,NM_002644.3:p.Gly365Ser/c.1093G>A,Ggc/Agc,MODERATE,COSM425158(2),0.296326,0.3284,rs2275531,0.13(T),1.0(D),2.305(M),-0.9112(T),,chr1,207109116,207109116,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly365Ser/c.1093G>A|764|PIGR|protein_coding|CODING|NM_002644.3|5|1),"NHEK:CTCF,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,K562:CTCFL,HMEC:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HepG2:DNase1,HepG2:Rad21,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.2147,0.3271,0.4563,0.38,0.22,0.46,,0.000742(N),0.357(P),3.66(T),0.0000(T),0.07,2.777910,5.55,4.64,-0.140000,1.352000,0.601000,0.242000,1.000000,0.755000,8.6869
synonymous_variant,PIGR,SILENT,NM_002644.3:p.Val183Val/c.549A>G,gtA/gtG,LOW,,0.550919,0.4474,rs291096,,,,,,chr1,207110936,207110936,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val183Val/c.549A>G|764|PIGR|protein_coding|CODING|NM_002644.3|4|1),"IMR90:H3K27me3,K562:PU1,HepG2:H3K27me3,K562:SP1,K562:DNase1",,,,0.2556,0.5115,0.4682,0.60,0.85,0.47,,,,,,,,,,,,,,,,
synonymous_variant,FCAMR,SILENT,NM_001170631.1:p.Ala42Ala/c.126G>A,gcG/gcA,LOW,COSM146750(1),0.236621,0.3165,rs11119933,,,,,,chr1,207140440,207140440,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala42Ala/c.126G>A|265|FCAMR|protein_coding|CODING|NM_001122979.2|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala42Ala/c.126G>A|577|FCAMR|protein_coding|CODING|NM_001170631.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala42Ala/c.126G>A|265|FCAMR|protein_coding|CODING|NM_032029.4|3|1)","HUVEC:H3K27me3,CD4:H3K4me1,CD4:H3K4ac,IMR90:H3K27me3",,,,0.0808,0.1715,0.165,0.23,0.33,0.19,,,,,,,,,,,,,,,,
missense_variant,C1orf116,MISSENSE,NM_023938.5:p.Ser444Pro/c.1330T>C,Tct/Cct,MODERATE,,0.995208,1,rs2842726,1(T),0.0(B),-2.005(N),-1.0163(T),,chr1,207195779,207195779,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser198Pro/c.592T>C|355|C1orf116|protein_coding|CODING|NM_001083924.1|3|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser444Pro/c.1330T>C|601|C1orf116|protein_coding|CODING|NM_023938.5|4|1)","NHEK:H3K27ac,H1ESC:H3K36me3,GM06990:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,NHEK:H3K4me1,K562:H3K4me1,K562:H3K36me3,HMEC:H3K36me3,HMEC:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,0.9949,0.9914,0.9891,0.99,1.00,0.98,,0.065645(N),1.000(P),"3.33,3.33(T,T)",0.0000(T),0.012,-0.660180,5.7,-0.771,-0.733000,-0.716000,0.009000,0.015000,0.000000,0.029000,1.4574
synonymous_variant,C4BPB,SILENT,NM_000716.3:p.Asn154Asn/c.462C>T,aaC/aaT,LOW,COSM3750832(2),0.389776,0.1617,rs8942,,,,,,chr1,207269919,207269919,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn154Asn/c.462C>T|252|C4BPB|protein_coding|CODING|NM_000716.3|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn153Asn/c.459C>T|251|C4BPB|protein_coding|CODING|NM_001017364.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn154Asn/c.462C>T|252|C4BPB|protein_coding|CODING|NM_001017365.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn153Asn/c.459C>T|251|C4BPB|protein_coding|CODING|NM_001017366.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn154Asn/c.462C>T|252|C4BPB|protein_coding|CODING|NM_001017367.1|5|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2474,0.2867,0.1769,0.38,0.76,0.19,,,,,,,,,,,,,,,,
synonymous_variant,C4BPA,SILENT,NM_000715.3:p.Gly225Gly/c.675T>C,ggT/ggC,LOW,,0.857827,0.7639,rs1126618,,,,,,chr1,207297680,207297680,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly225Gly/c.675T>C|597|C4BPA|protein_coding|CODING|NM_000715.3|6|1),"GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8957,0.8646,0.829,0.86,0.91,0.83,,,,,,,,,,,,,,,,
missense_variant,C4BPA,MISSENSE,NM_000715.3:p.Ile300Thr/c.899T>C,aTt/aCt,MODERATE,COSM3997187(2),0.489816,0.2679,rs4844573,0.76(T),0.002(B),-0.975(N),-0.9601(T),,chr1,207304900,207304900,T,C,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile300Thr/c.899T>C|597|C4BPA|protein_coding|CODING|NM_000715.3|8|1),,,,,0.3845,0.4625,0.3767,0.48,0.75,0.35,,0.103873(N),1.000(P),0.02(T),0.0000(T),0.03,-0.865722,4.51,-8.9,-0.119000,-2.717000,-2.583000,0.394000,0.000000,0.000000,16.2134
synonymous_variant,CR2,SILENT,NM_001006658.2:p.Leu592Leu/c.1776G>A,ctG/ctA,LOW,COSM3746749(4),0.400359,0.2024,rs1048971,,,,,,chr1,207646322,207646322,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu592Leu/c.1776G>A|1092|CR2|protein_coding|CODING|NM_001006658.2|10|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu592Leu/c.1776G>A|1033|CR2|protein_coding|CODING|NM_001877.4|10|1)","HUVEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.2658,0.2666,0.3499,0.47,0.69,0.36,,,,,,,,,,,,,,,,
missense_variant,CR2,MISSENSE,NM_001006658.2:p.Ser639Asn/c.1916G>A,aGt/aAt,MODERATE,COSM3750834(2),0.258387,0.1071,rs17615,0.15(T),"0.995,0.982,0.996,0.986(D,D,D,D)",1.66(L),-0.9662(T),,chr1,207646462,207646462,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser639Asn/c.1916G>A|1092|CR2|protein_coding|CODING|NM_001006658.2|10|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser639Asn/c.1916G>A|1033|CR2|protein_coding|CODING|NM_001877.4|10|1)","HUVEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.1953,0.2017,0.2913,0.34,0.38,0.32,,,0.166(P),"-0.22,-0.22,-0.22,-0.22(T,T,T,T)",0.0000(T),0.124,3.772477,5.77,4.8,0.655000,2.723000,0.504000,0.994000,0.971000,0.056000,11.2876
missense_variant,CR2,MISSENSE,NM_001006658.2:p.Ser663Pro/c.1987T>C,Tca/Cca,MODERATE,COSM3746750(2),0.289537,0.1091,rs4308977,0.36(T),0.0(B),-1.285(N),-0.9125(T),,chr1,207646898,207646898,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser663Pro/c.1987T>C|1092|CR2|protein_coding|CODING|NM_001006658.2|11|1),intron_variant(MODIFIER|||c.1979-248T>C|1033|CR2|protein_coding|CODING|NM_001877.4|10|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.1984,0.2089,0.2913,0.38,0.50,0.32,,,1.000(P),-0.02(T),0.0000(T),0.024,-0.737638,4.58,1.19,-0.119000,0.087000,-0.081000,0.471000,0.011000,0.197000,7.633
missense_variant,CR2,MISSENSE,NM_001006658.2:p.Arg671His/c.2012G>A,cGt/cAt,MODERATE,COSM3746751(3),0.257588,0.1071,rs17616,0.16(T),0.674(P),0.95(L),-1.0972(T),,chr1,207646923,207646923,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg671His/c.2012G>A|1092|CR2|protein_coding|CODING|NM_001006658.2|11|1),intron_variant(MODIFIER|||c.1979-223G>A|1033|CR2|protein_coding|CODING|NM_001877.4|10|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.1953,0.2017,0.2903,0.34,0.38,0.31,,,1.000(P),-0.12(T),0.0000(T),0.033,3.697997,5.11,-8.57,-1.127000,-1.688000,-1.366000,0.347000,0.000000,0.000000,9.1856
synonymous_variant,CR2,SILENT,NM_001006658.2:p.Ile776Ile/c.2328T>C,atT/atC,LOW,,0.0632987,0.001,rs61735651,,,,,,chr1,207648173,207648173,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile776Ile/c.2328T>C|1092|CR2|protein_coding|CODING|NM_001006658.2|14|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile717Ile/c.2151T>C|1033|CR2|protein_coding|CODING|NM_001877.4|13|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.0399,0.0447,0.0865,0.10,0.10,0.10,,,,,,,,,,,,,,,,
missense_variant,CR2,MISSENSE,NM_001006658.2:p.Ala1062Glu/c.3185C>A,gCa/gAa,MODERATE,COSM3750836(1),0.942891,1,rs17617,1(T),"0.0,0.0,0.0(B,B,B)",-0.805(N),-0.9549(T),,chr1,207653395,207653395,C,A,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala1062Glu/c.3185C>A|1092|CR2|protein_coding|CODING|NM_001006658.2|18|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala1003Glu/c.3008C>A|1033|CR2|protein_coding|CODING|NM_001877.4|17|1)","HUVEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.9427,0.9121,0.837,0.88,0.98,0.83,,,0.997(P),"1.59,1.52,1.64,1.57(T,T,T,T)",0.0000(T),0.082,-1.292762,4.74,-2.09,-0.494000,-0.826000,-0.173000,0.308000,0.759000,0.848000,0.2783
synonymous_variant,CR1,SILENT,NM_000651.4:p.Glu60Glu/c.180A>G,gaA/gaG,LOW,,0.850439,0.6488,rs4844600,,,,-1.0248(T),,chr1,207679307,207679307,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu60Glu/c.180A>G|2039|CR1|protein_coding|CODING|NM_000573.3|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu60Glu/c.180A>G|2489|CR1|protein_coding|CODING|NM_000651.4|2|1)","HUVEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.9202,0.9078,0.8111,0.85,0.94,0.81,,,1.000(P),,0.0000(T),.,-0.038989,3.91,-0.603,-0.197000,-0.514000,-1.176000,0.001000,0.000000,0.000000,7.9115
missense_variant,CR1,MISSENSE,NM_000651.4:p.Thr1858Met/c.5573C>T,aCg/aTg,MODERATE,COSM3750838(1),0.248802,0.3264,rs3737002,0.11(T),"0.59,0.995,0.958(P,D,D)",1.67(L),-1.0284(T),,chr1,207760773,207760773,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1408Met/c.4223C>T|2039|CR1|protein_coding|CODING|NM_000573.3|26|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1858Met/c.5573C>T|2489|CR1|protein_coding|CODING|NM_000651.4|34|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3129,0.379,0.2873,0.21,0.07,0.28,,,1.000(P),"-0.17,-0.17,-0.17,-0.17,-0.17,-0.17(T,T,T,T,T,T)",0.0000(T),0.148,0.153959,3.11,-0.0816,-0.345000,-0.027000,-0.359000,0.067000,0.001000,0.000000,5.3246
missense_variant,CR1,MISSENSE,NM_000651.4:p.Thr2060Ser/c.6178A>T,Acc/Tcc,MODERATE,,0.995008,1,rs4844609,1(T),"0.0,0.005(B,B)",,-0.9469(T),,chr1,207782916,207782916,A,T,hom,"missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr1610Ser/c.4828A>T|2039|CR1|protein_coding|CODING|NM_000573.3|29|1),missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr2060Ser/c.6178A>T|2489|CR1|protein_coding|CODING|NM_000651.4|37|1)",,,,,0.999,0.9942,0.9801,0.98,1.00,0.97,,,1.000(P),"-0.01,-0.01,-0.01,-0.01,-0.01(T,T,T,T,T)",0.0000(T),0.008,-1.211354,2.54,2.54,-0.527000,0.394000,-0.535000,0.001000,0.001000,0.000000,4.9244
missense_variant,CR1,MISSENSE,NM_000651.4:p.Thr2419Ala/c.7255A>G,Aca/Gca,MODERATE,,0.828075,0.6885,rs2296160,0.8(T),"0.001,0.001(B,B)",0.345(N),-1.0132(T),,chr1,207795320,207795320,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr1969Ala/c.5905A>G|2039|CR1|protein_coding|CODING|NM_000573.3|36|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr2419Ala/c.7255A>G|2489|CR1|protein_coding|CODING|NM_000651.4|44|1),splice_region_variant(LOW|||c.5905A>G|2039|CR1|protein_coding|CODING|NM_000573.3|36|1),splice_region_variant(LOW|||c.7255A>G|2489|CR1|protein_coding|CODING|NM_000651.4|44|1)",,,,,0.9284,0.9207,0.8221,0.82,0.82,0.82,,,1.000(P),"1.49,1.61,1.49,1.49,1.48(T,T,T,T,T)",0.0000(T),0.243,-1.260967,4.13,-8.25,-4.476000,-5.606000,-3.960000,0.002000,0.000000,0.000000,0.4226
synonymous_variant,PLXNA2,SILENT,NM_025179.3:p.Leu371Leu/c.1113G>A,ctG/ctA,LOW,,0.127596,0.1429,rs4844657,,,,,,chr1,208390155,208390155,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu371Leu/c.1113G>A|1894|PLXNA2|protein_coding|CODING|NM_025179.3|2|1),"HSMM:H3K27ac,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1",,,,0.0849,0.2046,0.2078,0.15,0.06,0.19,,,,,,,,,,,,,,,,
missense_variant,PLXNA2,MISSENSE,NM_025179.3:p.Glu369Gly/c.1106A>G,gAg/gGg,MODERATE,,0.11861,0.1429,rs386595842,0(D),"0.828,0.215(P,B)",2.65(M),-1.0749(T),,chr1,208390162,208390162,T,C,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu369Gly/c.1106A>G|1894|PLXNA2|protein_coding|CODING|NM_025179.3|2|1),"HSMM:H3K27ac,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1",,,,0.0849,0.2032,0.2087,0.14,0.03,0.19,,0.000054(D),0.000(P),2.72(T),0.0001(T),0.175,3.789846,5.84,5.84,0.533000,2.232000,5.876000,0.996000,1.000000,1.000000,11.3143
missense_variant,PLXNA2,MISSENSE,NM_025179.3:p.Ala267Thr/c.799G>A,Gcc/Acc,MODERATE,COSM3746760(1),0.139577,0.1458,rs3748735,0.83(T),"0.359,0.13(B,B)",0(N),-0.9450(T),,chr1,208390469,208390469,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala267Thr/c.799G>A|1894|PLXNA2|protein_coding|CODING|NM_025179.3|2|1),"K562:CTCF,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1472,0.1715,0.1988,0.16,0.09,0.20,,0.057027(N),0.015(P),2.83(T),0.0000(T),0.115,2.434528,5.84,4.91,0.655000,1.433000,3.531000,0.966000,1.000000,1.000000,14.0881
synonymous_variant,LAMB3,SILENT,NM_000228.2:p.Cys572Cys/c.1716T>C,tgT/tgC,LOW,COSM3746765(2),0.764976,0.8304,rs2179402,,,,,,chr1,209799253,209799253,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys572Cys/c.1716T>C|1172|LAMB3|protein_coding|CODING|NM_000228.2|14|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys572Cys/c.1716T>C|1172|LAMB3|protein_coding|CODING|NM_001017402.1|13|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys572Cys/c.1716T>C|1172|LAMB3|protein_coding|CODING|NM_001127641.1|14|1)","NHEK:PolII,HSMM:H3K27ac,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:DNase1,HSMM:H3K4me1,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.7464,0.7075,0.7326,0.75,0.77,0.73,,,,,,,,,,,,,,,,
missense_variant,LAMB3,MISSENSE,NM_000228.2:p.Tyr339His/c.1015T>C,Tat/Cat,MODERATE,,0.00559105,0.001,rs52814161,0.12(T),0.001(B),-1.665(N),-1.0200(T),,chr1,209803199,209803199,A,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr339His/c.1015T>C|1172|LAMB3|protein_coding|CODING|NM_000228.2|10|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr339His/c.1015T>C|1172|LAMB3|protein_coding|CODING|NM_001017402.1|9|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr339His/c.1015T>C|1172|LAMB3|protein_coding|CODING|NM_001127641.1|10|1)","GM06990:H3K27me3,NHEK:PolII,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.0112,0.0014,0.0149,0.01,0.00,0.02,,0.006261(N),1.000(N),"0.17,0.17,0.17(T,T,T)",0.0215(T),0.017,1.675555,5.65,0.916,-0.254000,0.251000,2.722000,0.988000,0.000000,0.926000,3.5512
synonymous_variant,LAMB3,SILENT,NM_000228.2:p.Pro128Pro/c.384C>T,ccC/ccT,LOW,COSM3746766(3),0.245407,0.2381,rs1130667,,,,,,chr1,209807972,209807972,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro128Pro/c.384C>T|1172|LAMB3|protein_coding|CODING|NM_000228.2|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro128Pro/c.384C>T|1172|LAMB3|protein_coding|CODING|NM_001017402.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro128Pro/c.384C>T|1172|LAMB3|protein_coding|CODING|NM_001127641.1|6|1)","NHEK:PolII,HMEC:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.317,0.2421,0.3887,0.31,0.15,0.40,,,,,,,,,,,,,,,,
synonymous_variant,LAMB3,SILENT,NM_000228.2:p.Ser97Ser/c.291A>C,tcA/tcC,LOW,COSM146753(2),0.432508,0.2847,rs2076356,,,,,,chr1,209811886,209811886,T,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser97Ser/c.291A>C|1172|LAMB3|protein_coding|CODING|NM_000228.2|4|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser97Ser/c.291A>C|1172|LAMB3|protein_coding|CODING|NM_001017402.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser97Ser/c.291A>C|1172|LAMB3|protein_coding|CODING|NM_001127641.1|4|1)","NHEK:PolII,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.4611,0.4582,0.6412,0.57,0.44,0.65,,,,,,,,,,,,,,,,
synonymous_variant,TRAF3IP3,SILENT,NM_025228.3:p.Gln52Gln/c.156A>G,caA/caG,LOW,COSM4143298(1),0.373003,0.2133,rs2076150,,,,,,chr1,209933540,209933540,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln52Gln/c.156A>G|551|TRAF3IP3|protein_coding|CODING|NM_025228.3|3|1),non_coding_exon_variant(MODIFIER|||n.593A>G||TRAF3IP3||CODING|NR_109871.1|3|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K36me3,K562:H3K27me3,CD4:H3K4me1,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2413,0.2795,0.2386,0.38,0.68,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TRAF3IP3,SILENT,NM_025228.3:p.Ala228Ala/c.684C>T,gcC/gcT,LOW,COSM3997197(1),0.380591,0.3075,rs17015169,,,,,,chr1,209936914,209936914,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala228Ala/c.684C>T|551|TRAF3IP3|protein_coding|CODING|NM_025228.3|8|1),non_coding_exon_variant(MODIFIER|||n.1121C>T||TRAF3IP3||CODING|NR_109871.1|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,CD4:H4K5ac,GM06990:H3K36me3",,,,0.2658,0.2752,0.2306,0.36,0.64,0.22,,,,,,,,,,,,,,,,
synonymous_variant,HHAT,SILENT,NM_001170587.2:p.Asn165Asn/c.495C>T,aaC/aaT,LOW,COSM3750856(2),0.0810703,0.002,rs34772809,,,,,,chr1,210577831,210577831,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn164Asn/c.492C>T|493|HHAT|protein_coding|CODING|NM_001122834.3|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn164Asn/c.492C>T|493|HHAT|protein_coding|CODING|NM_001170580.2|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn165Asn/c.495C>T|494|HHAT|protein_coding|CODING|NM_001170587.2|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn99Asn/c.297C>T|428|HHAT|protein_coding|CODING|NM_001170588.2|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn164Asn/c.492C>T|493|HHAT|protein_coding|CODING|NM_018194.5|6|1),intron_variant(MODIFIER|||c.274-13667C>T|356|HHAT|protein_coding|CODING|NM_001170564.2|4|1)","HUVEC:H3K27me3,HeLa-S3:H3K27me3",,,,0.1033,0.111,0.1789,0.14,0.05,0.19,,,,,,,,,,,,,,,,
synonymous_variant,HHAT,SILENT,NM_001170587.2:p.Leu179Leu/c.537G>C,ctG/ctC,LOW,,0.759984,0.628,rs2066721,,,,,,chr1,210577873,210577873,G,C,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu178Leu/c.534G>C|493|HHAT|protein_coding|CODING|NM_001122834.3|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu178Leu/c.534G>C|493|HHAT|protein_coding|CODING|NM_001170580.2|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu179Leu/c.537G>C|494|HHAT|protein_coding|CODING|NM_001170587.2|5|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu113Leu/c.339G>C|428|HHAT|protein_coding|CODING|NM_001170588.2|5|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu178Leu/c.534G>C|493|HHAT|protein_coding|CODING|NM_018194.5|6|1),intron_variant(MODIFIER|||c.274-13625G>C|356|HHAT|protein_coding|CODING|NM_001170564.2|4|1)","HUVEC:H3K27me3,HeLa-S3:H3K27me3",,,,0.7086,0.8444,0.7634,0.78,0.81,0.76,,,,,,,,,,,,,,,,
missense_variant,HHAT,MISSENSE,NM_001170587.2:p.Cys189Arg/c.565T>C,Tgc/Cgc,MODERATE,,0.0808706,0.002,rs34228541,0.22(T),"1.0,0.999,1.0,1.0(D,D,D,D)",2.485(M),-1.1591(T),,chr1,210577901,210577901,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys188Arg/c.562T>C|493|HHAT|protein_coding|CODING|NM_001122834.3|6|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys188Arg/c.562T>C|493|HHAT|protein_coding|CODING|NM_001170580.2|6|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys189Arg/c.565T>C|494|HHAT|protein_coding|CODING|NM_001170587.2|5|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys123Arg/c.367T>C|428|HHAT|protein_coding|CODING|NM_001170588.2|5|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys188Arg/c.562T>C|493|HHAT|protein_coding|CODING|NM_018194.5|6|1),intron_variant(MODIFIER|||c.274-13597T>C|356|HHAT|protein_coding|CODING|NM_001170564.2|4|1)","HUVEC:H3K27me3,HeLa-S3:H3K27me3",,,,0.1033,0.111,0.1789,0.14,0.05,0.19,,0.000000(D),0.000(P),"2.01,2.0,2.1,1.97,2.02,2.01,2.05,2.01,1.78(T,T,T,T,T,T,T,T,T)",0.0003(T),0.548,4.487403,5.54,5.54,0.482000,2.107000,7.100000,0.986000,0.997000,1.000000,15.3723
synonymous_variant,KCNH1,SILENT,NM_172362.2:p.Thr925Thr/c.2775A>T,acA/acT,LOW,,0.00958466,0,rs114571785,,,,,,chr1,210856818,210856818,T,A,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr898Thr/c.2694A>T|962|KCNH1|protein_coding|CODING|NM_002238.3|11|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr925Thr/c.2775A>T|989|KCNH1|protein_coding|CODING|NM_172362.2|11|1)",HSMM:H3K36me3,,,,0.0123,0.0231,0.0189,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,KCNH1,SILENT,NM_172362.2:p.Asp712Asp/c.2136T>C,gaT/gaC,LOW,,0.739417,0.6528,rs1135317,,,,,,chr1,210857457,210857457,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp685Asp/c.2055T>C|962|KCNH1|protein_coding|CODING|NM_002238.3|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp712Asp/c.2136T>C|989|KCNH1|protein_coding|CODING|NM_172362.2|11|1)",HSMM:H3K36me3,,,,0.8016,0.6888,0.7117,0.74,0.80,0.71,,,,,,,,,,,,,,,,
synonymous_variant,NEK2,SILENT,NM_002497.3:p.Arg439Arg/c.1317A>G,agA/agG,LOW,,0.309505,0.2629,rs12031285,,,,,,chr1,211836789,211836789,T,C,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg439Arg/c.1317A>G|445|NEK2|protein_coding|CODING|NM_002497.3|8|1),intron_variant(MODIFIER|||c.1111+3659A>G|388|NEK2|protein_coding|CODING|NM_001204182.1|7|1)","K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.319,0.3501,0.2286,0.27,0.36,0.23,,,,,,,,,,,,,,,,
synonymous_variant,NEK2,SILENT,NM_002497.3:p.His168His/c.504T>C,caT/caC,LOW,,0.603035,0.7252,rs56500874,,,,,,chr1,211846876,211846876,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His168His/c.504T>C|388|NEK2|protein_coding|CODING|NM_001204182.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His168His/c.504T>C|384|NEK2|protein_coding|CODING|NM_001204183.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His168His/c.504T>C|445|NEK2|protein_coding|CODING|NM_002497.3|3|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.6671,0.4732,0.50,0.53,0.48,,,,,,,,,,,,,,,,
synonymous_variant,NEK2,SILENT,NM_002497.3:p.Ala5Ala/c.15T>G,gcT/gcG,LOW,,0.0323482,0,rs55635245,,,,,,chr1,211848807,211848807,A,C,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala5Ala/c.15T>G|388|NEK2|protein_coding|CODING|NM_001204182.1|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala5Ala/c.15T>G|384|NEK2|protein_coding|CODING|NM_001204183.1|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala5Ala/c.15T>G|445|NEK2|protein_coding|CODING|NM_002497.3|1|1)","H1ESC:PolII,CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:Sin3Ak20,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.0225,0.1066,0.0636,0.05,0.02,0.06,,,,,,,,,,,,,,,,
missense_variant,DTL,MISSENSE,NM_016448.3:p.Ala436Val/c.1307C>T,gCa/gTa,MODERATE,,0.959465,1,rs3135474,0.5(T),"0.001,0.0(B,B)",-1.355(N),-0.9564(T),,chr1,212273639,212273639,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala165Val/c.494C>T|459|DTL|protein_coding|CODING|NM_001286229.1|12|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala394Val/c.1181C>T|688|DTL|protein_coding|CODING|NM_001286230.1|13|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala436Val/c.1307C>T|730|DTL|protein_coding|CODING|NM_016448.3|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9571,0.9957,0.9592,0.95,0.92,0.96,,0.102637(N),1.000(P),"-0.45,-0.52(T,T)",0.0000(T),0.054,-1.841883,5.54,1.48,-0.254000,-0.158000,0.086000,0.285000,0.059000,0.062000,11.7619
missense_variant,DTL,MISSENSE,NM_016448.3:p.Lys694Thr/c.2081A>C,aAa/aCa,MODERATE,,0.996605,1,rs6540718,1(T),"0.0,0.0(B,B)",-0.695(N),-0.9496(T),,chr1,212274413,212274413,A,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys423Thr/c.1268A>C|459|DTL|protein_coding|CODING|NM_001286229.1|12|1),missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys652Thr/c.1955A>C|688|DTL|protein_coding|CODING|NM_001286230.1|13|1),missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys694Thr/c.2081A>C|730|DTL|protein_coding|CODING|NM_016448.3|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9971,0.9891,0.99,1.00,0.99,,0.012694(N),1.000(P),"-0.39,-0.46(T,T)",0.0000(T),0.03,-2.421242,5.74,2.71,-0.121000,0.376000,-0.568000,0.043000,0.349000,0.000000,5.7141
synonymous_variant,TMEM206,SILENT,NM_001198862.1:p.Phe144Phe/c.432T>C,ttT/ttC,LOW,,0.99381,1,rs792449,,,,,,chr1,212560327,212560327,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe144Phe/c.432T>C|411|TMEM206|protein_coding|CODING|NM_001198862.1|4|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe83Phe/c.249T>C|350|TMEM206|protein_coding|CODING|NM_018252.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9899,0.9811,0.99,1.00,0.98,,,,,,,,,,,,,,,,
missense_variant,FAM71A,MISSENSE,NM_153606.3:p.Arg439His/c.1316G>A,cGc/cAc,MODERATE,,0.0081869,0,rs114509113,1(T),0.0(B),0(N),-0.9270(T),,chr1,212799535,212799535,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg439His/c.1316G>A|594|FAM71A|protein_coding|CODING|NM_153606.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.013,0.0268,0.01,0.00,0.02,,,1.000(N),4.09(T),0.0012(T),0.082,0.375275,4.86,-4.13,-0.290000,-0.766000,-0.642000,0.019000,0.000000,0.000000,1.1428
missense_variant,FAM71A,MISSENSE,NM_153606.3:p.Asn551Asp/c.1651A>G,Aac/Gac,MODERATE,COSM4143311(1),0.784145,0.6796,rs3122713,1(T),0.0(B),-2.31(N),-1.0626(T),,chr1,212799870,212799870,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn551Asp/c.1651A>G|594|FAM71A|protein_coding|CODING|NM_153606.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8691,0.755,0.841,0.84,0.79,0.87,,,1.000(P),4.7(T),0.0000(T),0.028,0.945443,4.04,1.19,-0.215000,0.047000,0.170000,0.022000,0.000000,0.014000,6.5639
missense_variant,FAM71A,MISSENSE,NM_153606.3:p.Thr577Met/c.1730C>T,aCg/aTg,MODERATE,COSM3721732(2),0.485024,0.4514,rs3795842,0.44(T),0.0(B),-1.1(N),-1.0910(T),,chr1,212799949,212799949,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr577Met/c.1730C>T|594|FAM71A|protein_coding|CODING|NM_153606.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6769,0.3156,0.6451,0.55,0.39,0.63,,,1.000(P),3.88(T),0.0000(T),0.033,0.878561,4.04,1.7,-0.361000,0.057000,0.072000,0.015000,0.000000,0.000000,3.7946
synonymous_variant,NSL1,SILENT,NM_001297739.1:p.Val178Val/c.534T>C,gtT/gtC,LOW,COSM4143313(1),0.909944,0.8938,rs2244935,,,,,,chr1,212900487,212900487,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val178Val/c.534T>C|178|NSL1|protein_coding|CODING|NM_001297739.1|5|1),3_prime_UTR_variant(MODIFIER||11263|c.*11263T>C|240|NSL1|protein_coding|CODING|NM_001297736.1|4|1),3_prime_UTR_variant(MODIFIER||11263|c.*11263T>C|281|NSL1|protein_coding|CODING|NM_015471.3|6|1),3_prime_UTR_variant(MODIFIER||11522|c.*11522T>C|172|NSL1|protein_coding|CODING|NM_001297737.1|5|1),3_prime_UTR_variant(MODIFIER||12399|c.*11552T>C|213|NSL1|protein_coding|CODING|NM_001042549.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8885,0.9611,0.9155,0.91,0.92,0.91,,,,,,,,,,,,,,,,
missense_variant,NSL1,MISSENSE,NM_015471.3:p.Met254Val/c.760A>G,Atg/Gtg,MODERATE,COSM3746776(2),0.607428,0.5308,rs15702,1(T),0.0(B),-1.04(N),-0.9692(T),,chr1,212911836,212911836,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met213Val/c.637A>G|240|NSL1|protein_coding|CODING|NM_001297736.1|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met254Val/c.760A>G|281|NSL1|protein_coding|CODING|NM_015471.3|6|1),3_prime_UTR_variant(MODIFIER||173|c.*173A>G|172|NSL1|protein_coding|CODING|NM_001297737.1|5|1),3_prime_UTR_variant(MODIFIER||1050|c.*203A>G|213|NSL1|protein_coding|CODING|NM_001042549.1|7|1),intron_variant(MODIFIER|||c.500-11315A>G|178|NSL1|protein_coding|CODING|NM_001297739.1|4|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:DNase1,NH-A:DNase1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6626,0.4438,0.6859,0.68,0.68,0.68,,0.186366(N),1.000(P),"1.85,1.86(T,T)",0.0000(T),0.023,-2.579856,5.51,-10.5,-2.301000,-2.672000,-3.546000,0.002000,0.000000,0.000000,1.4973
missense_variant,SMYD2,MISSENSE,NM_020197.2:p.Gly165Glu/c.494G>A,gGa/gAa,MODERATE,,0.830671,0.623,rs1134647,1(T),"0.0,0.001(B,B)",0.205(N),-0.9175(T),,chr1,214492286,214492286,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly165Glu/c.494G>A|433|SMYD2|protein_coding|CODING|NM_020197.2|5|1),"NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7955,0.755,0.9076,0.94,0.98,0.92,,0.000002(N),1.000(P),"2.57,2.57(T,T)",0.0000(T),0.033,1.272297,5.48,5.48,-0.254000,0.919000,4.959000,0.829000,0.362000,1.000000,11.4671
synonymous_variant,PTPN14,SILENT,NM_005401.4:p.Glu1084Glu/c.3252A>G,gaA/gaG,LOW,COSM146762(1),0.783946,0.6488,rs1135352,,,,,,chr1,214542819,214542819,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1084Glu/c.3252A>G|1187|PTPN14|protein_coding|CODING|NM_005401.4|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7751,0.6744,0.7763,0.83,0.93,0.78,,,,,,,,,,,,,,,,
synonymous_variant,PTPN14,SILENT,NM_005401.4:p.Arg326Arg/c.978A>G,cgA/cgG,LOW,,0.786342,0.6349,rs7550799,,,,,,chr1,214564340,214564340,T,C,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg326Arg/c.978A>G|1187|PTPN14|protein_coding|CODING|NM_005401.4|11|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7597,0.6772,0.7704,0.84,0.95,0.78,,,,,,,,,,,,,,,,
synonymous_variant,CENPF,SILENT,NM_016343.3:p.Gly11Gly/c.33G>A,ggG/ggA,LOW,COSM425275(4),0.236222,0.121,rs2070064,,,,,,chr1,214787130,214787130,G,A,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly11Gly/c.33G>A|3114|CENPF|protein_coding|CODING|NM_016343.3|2|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2771,0.3156,0.499,0.38,0.12,0.52,,,,,,,,,,,,,,,,
synonymous_variant,CENPF,SILENT,NM_016343.3:p.Leu964Leu/c.2890C>T,Cta/Tta,LOW,COSM425278(4),0.239018,0.122,rs3795521,,,,,,chr1,214814571,214814571,C,T,hom,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu964Leu/c.2890C>T|3114|CENPF|protein_coding|CODING|NM_016343.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2894,0.317,0.499,0.38,0.12,0.51,,,,,,,,,,,,,,,,
missense_variant,CENPF,MISSENSE,NM_016343.3:p.Asn2396Asp/c.7186A>G,Aat/Gat,MODERATE,COSM425281(2),0.235024,0.122,rs3748697,0.67(T),0.018(B),1.525(L),-0.9164(T),,chr1,214820099,214820099,A,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn2396Asp/c.7186A>G|3114|CENPF|protein_coding|CODING|NM_016343.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.3127,0.4831,0.38,0.12,0.51,,0.021399(N),0.914(P),0.96(T),0.0000(T),0.007,-0.003637,5.09,3.97,0.496000,0.969000,0.342000,0.176000,0.203000,0.000000,5.1495
missense_variant,CENPF,MISSENSE,NM_016343.3:p.Arg2729Gln/c.8186G>A,cGa/cAa,MODERATE,,0.561102,0.8849,rs335524,0.65(T),0.001(B),-0.695(N),-1.0224(T),,chr1,214826196,214826196,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2729Gln/c.8186G>A|3114|CENPF|protein_coding|CODING|NM_016343.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6973,0.5893,0.4443,0.39,0.32,0.43,,,1.000(P),4.11(T),0.0000(T),0.02,-1.590593,3.65,-6.44,-0.350000,-1.534000,-0.136000,0.049000,0.001000,0.376000,14.1733
missense_variant,CENPF,MISSENSE,NM_016343.3:p.Arg2943Gly/c.8827A>G,Aga/Gga,MODERATE,,0.618411,0.8879,rs386592781,0.39(T),0.0(B),-0.755(N),-1.0602(T),,chr1,214830617,214830617,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg2943Gly/c.8827A>G|3114|CENPF|protein_coding|CODING|NM_016343.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Response_to_antineoplastic_agents,,,0.7434,0.6383,0.5606,0.49,0.40,0.54,,0.878910(N),1.000(P),4.17(T),0.0000(T),0.027,1.777316,5.5,2.52,-0.248000,0.331000,1.447000,0.469000,0.000000,0.274000,7.8784
missense_variant,CENPF,MISSENSE,NM_016343.3:p.Asn3106Lys/c.9318C>G,aaC/aaG,MODERATE,,0.63099,0.8889,rs7289,1(T),0.0(B),-1.265(N),-1.0115(T),,chr1,214837110,214837110,C,G,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn3106Lys/c.9318C>G|3114|CENPF|protein_coding|CODING|NM_016343.3|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7474,0.6772,0.5606,0.50,0.42,0.55,,0.072739(N),1.000(P),4.04(T),0.0000(T),0.017,-0.557762,4.91,3.74,-0.215000,1.189000,0.548000,0.152000,0.002000,0.001000,4.4344
synonymous_variant,KCTD3,SILENT,NM_016121.3:p.Ala774Ala/c.2322G>A,gcG/gcA,LOW,COSM3750862(1),0.414337,0.3492,rs14137,,,,,,chr1,215793834,215793834,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala774Ala/c.2322G>A|815|KCTD3|protein_coding|CODING|NM_016121.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2843,0.6124,0.6372,0.54,0.32,0.66,,,,,,,,,,,,,,,,
synonymous_variant,USH2A,SILENT,NM_206933.2:p.Thr4222Thr/c.12666A>G,acA/acG,LOW,COSM146764(1),0.303115,0.3155,rs2797234,,,,,,chr1,215848587,215848587,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr4222Thr/c.12666A>G|5202|USH2A|protein_coding|CODING|NM_206933.2|63|1),,,RCV000041726.1|RCV000126268.1,,0.2781,0.4539,0.3738,0.33,0.22,0.39,,,,,,,,,,,,,,,,
synonymous_variant,USH2A,SILENT,NM_206933.2:p.Thr4204Thr/c.12612A>G,acA/acG,LOW,COSM146765(1),0.689696,0.6429,rs2797235,,,,,,chr1,215848641,215848641,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr4204Thr/c.12612A>G|5202|USH2A|protein_coding|CODING|NM_206933.2|63|1),,,,,0.6442,0.7954,0.8091,0.75,0.64,0.81,,,,,,,,,,,,,,,,
missense_variant,USH2A,MISSENSE,NM_206933.2:p.Met3868Val/c.11602A>G,Atg/Gtg,MODERATE,COSM146766(4),0.159345,0.0843,rs35309576,0.36(T),0.0(B),-0.09(N),-0.9190(T),,chr1,215914826,215914826,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met3868Val/c.11602A>G|5202|USH2A|protein_coding|CODING|NM_206933.2|60|1),,,RCV000041699.1|RCV000126261.1,,0.0736,0.196,0.2356,0.22,0.19,0.23,,0.917001(N),1.000(P),"2.69,2.69(T,T)",0.0000(T),0.064,0.270032,5.38,-9.68,-1.303000,-1.693000,-2.392000,0.757000,0.000000,0.000000,7.5708
missense_variant,USH2A,MISSENSE,NM_206933.2:p.Thr3835Ile/c.11504C>T,aCt/aTt,MODERATE,COSM146767(2),0.144569,0.0843,rs11120616,0.21(T),0.055(B),1.04(L),-1.1189(T),,chr1,215916563,215916563,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr3835Ile/c.11504C>T|5202|USH2A|protein_coding|CODING|NM_206933.2|59|1),,,RCV000041698.1|RCV000126260.1,,0.0736,0.1931,0.2346,0.20,0.14,0.23,,0.926035(N),0.000(P),"0.35,0.35(T,T)",0.0001(T),0.136,2.036066,4.94,4.94,0.655000,2.706000,1.348000,0.781000,0.996000,0.919000,11.5737
missense_variant,USH2A,MISSENSE,NM_206933.2:p.Ile2106Thr/c.6317T>C,aTa/aCa,MODERATE,COSM146769(1),0.595647,0.4544,rs6657250,0.56(T),0.0(B),-1.5(N),-0.9689(T),,chr1,216219781,216219781,A,G,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile2106Thr/c.6317T>C|5202|USH2A|protein_coding|CODING|NM_206933.2|32|1),NH-A:DNase1,,,,0.5,0.4669,0.6551,0.70,0.76,0.67,,0.162428(N),0.399(P),"0.78,0.78(T,T)",0.0000(T),0.067,-1.964884,5.42,5.42,-0.128000,1.442000,0.988000,0.091000,0.992000,0.866000,5.3694
synonymous_variant,USH2A,SILENT,NM_206933.2:p.Gly1671Gly/c.5013C>A,ggC/ggA,LOW,COSM3746786(2),0.105831,0,,,,,,,chr1,216258194,216258194,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly1671Gly/c.5013C>A|5202|USH2A|protein_coding|CODING|NM_206933.2|25|1),,,RCV000041853.2|RCV000126247.1,,0.0491,0.0951,0.163,0.18,0.19,0.17,,,,,,,,,,,,,,,,
missense_variant,USH2A,MISSENSE,NM_206933.2:p.Arg1486Lys/c.4457G>A,aGg/aAg,MODERATE,COSM3746790(1),0.66234,0.7788,rs1805049,0.12(T),"0.031,0.026(B,B)",1.39(L),-1.0169(T),,chr1,216348764,216348764,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1486Lys/c.4457G>A|1546|USH2A|protein_coding|CODING|NM_007123.5|21|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1486Lys/c.4457G>A|5202|USH2A|protein_coding|CODING|NM_206933.2|21|1)",,,,,0.7106,0.7017,0.6143,0.61,0.60,0.61,,0.332253(U),1.000(P),"0.61,0.61,0.61(T,T,T)",0.0000(T),0.118,1.398848,5.38,-2.24,0.544000,-0.482000,-1.625000,0.961000,0.000000,0.000000,1.7006
synonymous_variant,USH2A,SILENT,NM_206933.2:p.Asp703Asp/c.2109T>C,gaT/gaC,LOW,,0.00738818,0,rs45555435,,,,,,chr1,216424303,216424303,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp703Asp/c.2109T>C|1546|USH2A|protein_coding|CODING|NM_007123.5|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp703Asp/c.2109T>C|5202|USH2A|protein_coding|CODING|NM_206933.2|12|1)",,,RCV000041806.1|RCV000126238.1,,0.0041,0.0231,0.0169,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,USH2A,SILENT,NM_206933.2:p.Thr473Thr/c.1419C>T,acC/acT,LOW,COSM3997245(1),0.262979,0.129,rs1805050,,,,,,chr1,216496947,216496947,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr473Thr/c.1419C>T|1546|USH2A|protein_coding|CODING|NM_007123.5|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr473Thr/c.1419C>T|5202|USH2A|protein_coding|CODING|NM_206933.2|8|1)",,,RCV000041754.1|RCV000126237.1,,0.2393,0.2824,0.2386,0.30,0.38,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ESRRG,SILENT,NM_001243518.1:p.Ser331Ser/c.993G>A,tcG/tcA,LOW,COSM3746794(2),0.632588,0.7381,rs945453,,,,,,chr1,216692669,216692669,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001134285.2|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser68Ser/c.204G>A|207|ESRRG|protein_coding|CODING|NM_001243505.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser134Ser/c.402G>A|273|ESRRG|protein_coding|CODING|NM_001243506.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser257Ser/c.771G>A|396|ESRRG|protein_coding|CODING|NM_001243507.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243509.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243510.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243511.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243512.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243513.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243514.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243515.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser331Ser/c.993G>A|470|ESRRG|protein_coding|CODING|NM_001243518.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_001243519.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser319Ser/c.957G>A|458|ESRRG|protein_coding|CODING|NM_001438.3|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_206594.2|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|435|ESRRG|protein_coding|CODING|NM_206595.2|7|1)",,,,,0.59,0.6354,0.4344,0.50,0.66,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SPATA17,SILENT,NM_138796.2:p.Arg106Arg/c.318G>A,agG/agA,LOW,COSM3746796(2),0.17512,0.0962,rs12068167,,,,,,chr1,217856626,217856626,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg106Arg/c.318G>A|361|SPATA17|protein_coding|CODING|NM_138796.2|5|1),,,,,0.1227,0.1268,0.173,0.20,0.27,0.16,,,,,,,,,,,,,,,,
synonymous_variant,SPATA17,SILENT,NM_138796.2:p.Leu135Leu/c.403C>T,Ctg/Ttg,LOW,,0.126198,0.1419,rs34347452,,,,,,chr1,217915324,217915324,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu135Leu/c.403C>T|361|SPATA17|protein_coding|CODING|NM_138796.2|6|1),,,,,0.1431,0.0951,0.174,0.14,0.11,0.15,,,,,,,,,,,,,,,,
synonymous_variant,SPATA17,SILENT,NM_138796.2:p.Gln194Gln/c.582G>A,caG/caA,LOW,,0.726837,0.7292,rs6604561,,,,,,chr1,217947738,217947738,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln194Gln/c.582G>A|361|SPATA17|protein_coding|CODING|NM_138796.2|7|1),,,,,0.727,0.6801,0.8101,0.77,0.71,0.80,,,,,,,,,,,,,,,,
missense_variant,LYPLAL1,MISSENSE,NM_001300769.1:p.Phe68Leu/c.202T>C,Ttt/Ctt,MODERATE,,0.960264,1,rs386622404,,,,,,chr1,219383867,219383867,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe68Leu/c.202T>C|186|LYPLAL1|protein_coding|CODING|NM_001300769.1|3|1),splice_region_variant(LOW|||c.314T>C|221|LYPLAL1|protein_coding|CODING|NM_001300770.1|3|1),splice_region_variant(LOW|||c.248T>C|199|LYPLAL1|protein_coding|CODING|NM_001300771.1|3|1),splice_region_variant(LOW|||c.248T>C|199|LYPLAL1|protein_coding|CODING|NM_001300772.1|3|1),splice_region_variant(LOW|||c.362T>C|237|LYPLAL1|protein_coding|CODING|NM_138794.4|3|1),intron_variant(MODIFIER|||c.314-7T>C|221|LYPLAL1|protein_coding|CODING|NM_001300770.1|3|1),intron_variant(MODIFIER|||c.248-7T>C|199|LYPLAL1|protein_coding|CODING|NM_001300771.1|3|1),intron_variant(MODIFIER|||c.248-7T>C|199|LYPLAL1|protein_coding|CODING|NM_001300772.1|3|1),intron_variant(MODIFIER|||c.362-7T>C|237|LYPLAL1|protein_coding|CODING|NM_138794.4|3|1)","K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,LYPLAL1,MISSENSE,NM_138794.4:p.Ile131Met/c.393A>G,atA/atG,MODERATE,,0.963259,1,rs940570,0.23(T),"0.0,0.001(B,B)",-0.865(N),-0.9538(T),,chr1,219383905,219383905,A,G,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile80Met/c.240A>G|186|LYPLAL1|protein_coding|CODING|NM_001300769.1|3|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile115Met/c.345A>G|221|LYPLAL1|protein_coding|CODING|NM_001300770.1|4|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile93Met/c.279A>G|199|LYPLAL1|protein_coding|CODING|NM_001300771.1|4|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile93Met/c.279A>G|199|LYPLAL1|protein_coding|CODING|NM_001300772.1|4|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile131Met/c.393A>G|237|LYPLAL1|protein_coding|CODING|NM_138794.4|4|1)","K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.96,0.90,1.00,,0.000059(N),1.000(P),"1.9,1.9(T,T)",0.0000(T),0.285,1.796658,5.97,4.09,-0.119000,1.554000,1.712000,0.993000,1.000000,1.000000,11.9653
missense_variant,EPRS,MISSENSE,NM_004446.2:p.Tyr419Cys/c.1256A>G,tAt/tGt,MODERATE,,0.00439297,0,rs114015346,0.02(D),"0.926,0.864,0.933(D,P,D)",3.04(M),-0.7755(T),,chr1,220193423,220193423,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr419Cys/c.1256A>G|1512|EPRS|protein_coding|CODING|NM_004446.2|10|1),intron_variant(MODIFIER|||n.54+44671T>C||RNU5F-1||NON_CODING|NR_002753.5|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0058,0.0129,0.02,0.00,0.02,,0.000041(D),1.000(D),1.85(T),0.1047(T),0.4,4.167726,5.82,4.68,0.528000,1.009000,5.769000,0.998000,0.991000,1.000000,12.3373
missense_variant,EPRS,MISSENSE,NM_004446.2:p.Asp308Glu/c.924C>A,gaC/gaA,MODERATE,,0.898962,0.9395,rs2230301,1(T),"0.0,0.0,0.001(B,B,B)",-0.655(N),-0.9882(T),,chr1,220197625,220197625,G,T,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp308Glu/c.924C>A|1512|EPRS|protein_coding|CODING|NM_004446.2|8|1),intron_variant(MODIFIER|||n.54+48873G>T||RNU5F-1||NON_CODING|NR_002753.5|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8609,0.8732,0.7932,0.86,0.96,0.81,,0.000000(N),1.000(P),2.05(T),0.0000(T),0.048,-1.403151,5.38,-1.6,-0.527000,-0.807000,0.354000,0.191000,0.885000,0.996000,7.2445
missense_variant,HLX,MISSENSE,NM_021958.3:p.Pro356Leu/c.1067C>T,cCg/cTg,MODERATE,COSM3746803(4),0.298722,0.0952,rs2738755,0.08(T),0.007(B),0.55(N),-0.9645(T),,chr1,221057646,221057646,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro356Leu/c.1067C>T|488|HLX|protein_coding|CODING|NM_021958.3|4|1),"HUVEC:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2434,0.2911,0.34,0.38,0.43,0.35,,0.627919(N),1.000(P),"-0.21,0.6,3.34(T,T,T)",0.0000(T),0.122,0.651577,3.96,2.02,0.561000,0.264000,0.957000,0.013000,0.000000,0.000000,7.0076
synonymous_variant,HLX,SILENT,NM_021958.3:p.Glu361Glu/c.1083G>A,gaG/gaA,LOW,COSM3746804(2),0.186901,0.0942,rs3738182,,,,,,chr1,221057662,221057662,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu361Glu/c.1083G>A|488|HLX|protein_coding|CODING|NM_021958.3|4|1),"HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2014,0.1801,0.1779,0.21,0.23,0.20,,,,,,,,,,,,,,,,
synonymous_variant,DUSP10,SILENT,NM_007207.5:p.Glu242Glu/c.726A>G,gaA/gaG,LOW,,0.720248,0.6736,rs1141714,,,,,,chr1,221912361,221912361,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu242Glu/c.726A>G|482|DUSP10|protein_coding|CODING|NM_007207.5|2|1),intron_variant(MODIFIER|||n.196+2962A>G||DUSP10||CODING|NR_111940.1|1|1)","HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,HSMM:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:Nrsf,GM06990:H3K36me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.727,0.6816,0.6412,0.71,0.82,0.65,,,,,,,,,,,,,,,,
synonymous_variant,DUSP10,SILENT,NM_007207.5:p.Gln93Gln/c.279A>G,caA/caG,LOW,COSM3750892(1),0.343251,0.4484,rs1136448,,,,,,chr1,221912808,221912808,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln93Gln/c.279A>G|482|DUSP10|protein_coding|CODING|NM_007207.5|2|1),intron_variant(MODIFIER|||n.196+2515A>G||DUSP10||CODING|NR_111940.1|1|1)","HUVEC:H3K27me3,GM12878:H3K4me3,HSMM:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.4806,0.4179,0.3777,0.32,0.14,0.41,,,,,,,,,,,,,,,,
synonymous_variant,HHIPL2,SILENT,NM_024746.3:p.Thr433Thr/c.1299G>C,acG/acC,LOW,,0.375599,0.5089,rs3748664,,,,,,chr1,222713503,222713503,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr433Thr/c.1299G>C|724|HHIPL2|protein_coding|CODING|NM_024746.3|4|1),,,,,0.3078,0.5058,0.2604,0.30,0.33,0.29,,,,,,,,,,,,,,,,
missense_variant,HHIPL2,MISSENSE,NM_024746.3:p.His391Asp/c.1171C>G,Cat/Gat,MODERATE,COSM3746807(3),0.375599,0.5089,rs3748666,0.96(T),0.0(B),-2.08(N),-0.9115(T),,chr1,222713631,222713631,G,C,het,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His391Asp/c.1171C>G|724|HHIPL2|protein_coding|CODING|NM_024746.3|4|1),,,,,0.3078,0.5058,0.2604,0.30,0.33,0.29,,0.305409(N),1.000(P),2.8(T),0.0000(T),0.023,-2.657277,4.43,1.02,-0.647000,0.046000,0.545000,0.194000,0.000000,0.000000,3.6679
synonymous_variant,HHIPL2,SILENT,NM_024746.3:p.Leu33Leu/c.99G>A,ttG/ttA,LOW,COSM3750896(1),0.581869,0.6379,rs386595854,,,,,,chr1,222721288,222721288,C,T,hom,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu33Leu/c.99G>A|724|HHIPL2|protein_coding|CODING|NM_024746.3|1|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:Znf263,K562:H3K27me3,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.7669,0.7205,0.6044,0.54,0.38,0.62,,,,,,,,,,,,,,,,
synonymous_variant,TAF1A,SILENT,NM_001201536.1:p.Gly381Gly/c.1143C>G,ggC/ggG,LOW,COSM4143371(1),0.3125,0.3671,rs1134898,,,,,,chr1,222734803,222734803,G,C,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly381Gly/c.1143C>G|450|TAF1A|protein_coding|CODING|NM_001201536.1|10|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly381Gly/c.1143C>G|450|TAF1A|protein_coding|CODING|NM_005681.3|10|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly267Gly/c.801C>G|336|TAF1A|protein_coding|CODING|NM_139352.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4131,0.353,0.5119,0.36,0.10,0.48,,,,,,,,,,,,,,,,
missense_variant,MIA3,MISSENSE,NM_198551.3:p.Lys482Glu/c.1444A>G,Aag/Gag,MODERATE,,0.995607,1,rs2936053,1(T),"0.0,0.0(B,B)",-1.59(N),-0.9905(T),,chr1,222802006,222802006,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys482Glu/c.1444A>G|1907|MIA3|protein_coding|CODING|NM_198551.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,,1.000(P),"1.03,1.03,1.55(T,T,T)",0.0000(T),0.199,-0.298721,4.66,1.63,-0.684000,-0.106000,1.465000,0.376000,0.000000,0.006000,6.8308
synonymous_variant,MIA3,SILENT,NM_198551.3:p.Pro747Pro/c.2241T>G,ccT/ccG,LOW,COSM146781(1),0.507388,0.5823,rs3748626,,,,-0.9840(T),,chr1,222802803,222802803,T,G,hom,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro747Pro/c.2241T>G|1907|MIA3|protein_coding|CODING|NM_198551.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.5072,0.7296,0.59,0.31,0.71,,,1.000(P),,0.0000(T),.,0.164882,4.37,-2.45,0.260000,-0.571000,-0.162000,0.022000,0.000000,0.000000,4.1199
synonymous_variant,MIA3,SILENT,NM_198551.3:p.Ser788Ser/c.2364C>T,agC/agT,LOW,,0.800519,0.8899,rs3008620,,,,,,chr1,222802926,222802926,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser788Ser/c.2364C>T|1907|MIA3|protein_coding|CODING|NM_198551.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8456,0.9035,0.8976,0.80,0.61,0.88,,,1.000(P),,,.,-0.159105,4.39,-1.42,-0.521000,-0.919000,-1.003000,0.001000,0.000000,0.000000,0.5866
synonymous_variant,MIA3,SILENT,NM_198551.3:p.Pro1686Pro/c.5058T>C,ccT/ccC,LOW,,0.995008,1,rs3002153,,,,,,chr1,222833601,222833601,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro564Pro/c.1692T>C|785|MIA3|protein_coding|CODING|NM_001300867.1|19|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1686Pro/c.5058T>C|1907|MIA3|protein_coding|CODING|NM_198551.3|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.999,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,FAM177B,MISSENSE,NM_207468.2:p.Ile3Ser/c.8T>G,aTt/aGt,MODERATE,,0.589257,0.7708,rs2378607,0.53(T),0.007(B),0.69(N),-1.0068(T),,chr1,222919895,222919895,T,G,hom,missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile3Ser/c.8T>G|158|FAM177B|protein_coding|CODING|NM_207468.2|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3",,,,0.6585,0.7378,0.6998,0.55,0.30,0.68,,0.035708(N),1.000(P),"0.89,1.44,1.44,0.88(T,T,T,T)",0.0000(T),0.277,0.474751,4.67,2.3,-0.700000,0.167000,1.053000,0.786000,0.985000,1.000000,3.7419
missense_variant,FAM177B,MISSENSE,NM_207468.2:p.Gln143Arg/c.428A>G,cAa/cGa,MODERATE,COSM146785(3),0.791534,0.8006,rs6683071,0.84(T),0.0(B),0(N),-1.0267(T),,chr1,222923351,222923351,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln143Arg/c.428A>G|158|FAM177B|protein_coding|CODING|NM_207468.2|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HeLa-S3:CTCF,H1ESC:Rad21",Cognitive_performance,,,0.7607,0.8545,0.826,0.80,0.77,0.81,,,1.000(P),"1.53,1.53(T,T)",0.0000(T),0.012,-1.204312,5.51,-11.0,-2.171000,-4.367000,-2.114000,0.022000,0.000000,0.000000,2.2797
missense_variant,DISP1,MISSENSE,NM_032890.3:p.Ala1247Thr/c.3739G>A,Gct/Act,MODERATE,COSM3750900(1),0.0696885,0,rs9441940,0.61(T),0.0(B),-0.145(N),-0.9026(T),,chr1,223178478,223178478,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala1247Thr/c.3739G>A|1524|DISP1|protein_coding|CODING|NM_032890.3|10|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0818,0.0937,0.1829,0.14,0.05,0.18,,0.174310(N),1.000(P),-2.88(D),0.0013(T),0.0,-1.100258,5.48,-11.0,-3.472000,-7.105000,-3.127000,0.007000,0.000000,0.000000,2.8562
synonymous_variant,DISP1,SILENT,NM_032890.3:p.Pro1274Pro/c.3822A>C,ccA/ccC,LOW,COSM146786(2),0.498003,0.4782,rs9441941,,,,,,chr1,223178561,223178561,A,C,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1274Pro/c.3822A>C|1524|DISP1|protein_coding|CODING|NM_032890.3|10|1),"GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4826,0.5346,0.6163,0.53,0.45,0.58,,,,,,,,,,,,,,,,
missense_variant,TLR5,MISSENSE,NM_003268.5:p.Phe822Leu/c.2464T>C,Ttc/Ctc,MODERATE,,1,1,rs7512943,0.7(T),0.0(B),-2.2(N),-1.0052(T),,chr1,223283910,223283910,A,G,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe822Leu/c.2464T>C|858|TLR5|protein_coding|CODING|NM_003268.5|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.168623(N),1.000(P),"3.09,3.09,3.09(T,T,T)",0.0000(T),0.116,-0.792442,5.57,2.58,-0.197000,0.022000,0.484000,0.974000,0.272000,0.142000,0.5753
stop_gained,TLR5,NONSENSE,NM_003268.5:p.Leu697*/c.2090T>A,tTg/tAg,HIGH,,,,,1(T),,,,,chr1,223284284,223284284,A,T,het,stop_gained(HIGH|NONSENSE|tTg/tAg|p.Leu697*/c.2090T>A|858|TLR5|protein_coding|CODING|NM_003268.5|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000184(D),1.000(D),,,.,9.129782,5.59,5.59,0.528000,2.119000,8.635000,0.915000,0.676000,0.995000,15.771
missense_variant,CCDC185,MISSENSE,NM_152610.2:p.Gly329Asp/c.986G>A,gGc/gAc,MODERATE,COSM425404(4),0.175919,0.1101,rs10907376,0.5(T),0.056(B),1.04(L),-0.9460(T),,chr1,223567803,223567803,G,A,hom,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly329Asp/c.986G>A|623|CCDC185|protein_coding|CODING|NM_152610.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1227,0.1916,0.2734,0.24,0.20,0.26,,,1.000(P),1.92(T),0.0000(T),0.043,0.286677,4.71,-0.728,0.650000,-0.055000,-0.021000,0.032000,0.001000,0.000000,1.5099
missense_variant,CAPN8,MISSENSE,NM_001143962.1:p.Arg575Gln/c.1724G>A,cGa/cAa,MODERATE,,0.0690895,0.0258,rs4072247,1(T),0.0(B),-2.64(N),-0.7875(T),,chr1,223716508,223716508,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg575Gln/c.1724G>A|594|CAPN8|protein_coding|CODING|NM_001143962.1|16|1|WARNING_TRANSCRIPT_INCOMPLETE),IMR90:H3K27me3,,,,0.0685,0.0749,0.0954,0.10,0.09,0.11,,0.000023(N),0.000(P),"-3.34,-3.34(D,D)",0.0060(T),0.674,-1.369316,4.8,0.927,-0.260000,-0.303000,0.706000,0.076000,0.987000,1.000000,1.4234
missense_variant,CAPN8,MISSENSE,NM_001143962.1:p.Arg550Trp/c.1648C>T,Cgg/Tgg,MODERATE,COSM3984760(2),0.67472,0.6687,rs34158997,,,,,,chr1,223717484,223717484,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg550Trp/c.1648C>T|594|CAPN8|protein_coding|CODING|NM_001143962.1|15|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7331,0.7493,0.7555,0.71,0.57,0.77,,,,,,,,,,,,,,,,
synonymous_variant,CAPN8,SILENT,NM_001143962.1:p.Asn483Asn/c.1449C>T,aaC/aaT,LOW,COSM3997278(1),0.441094,0.5397,rs61823553,0.01(D),0.828(P),2.64(M),-1.1848(T),,chr1,223718651,223718651,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn483Asn/c.1449C>T|594|CAPN8|protein_coding|CODING|NM_001143962.1|13|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4479,0.5692,0.5586,0.46,0.25,0.54,,0.004098(N),0.991(P),"-1.19,-3.55(T,D)",0.0000(T),0.434,2.922789,5.35,3.45,0.650000,1.238000,0.552000,0.783000,0.055000,0.084000,9.0104
missense_variant,CAPN8,MISSENSE,NM_001143962.1:p.Ser245Tyr/c.734C>A,tCc/tAc,MODERATE,,0.604233,0.5675,rs35539373,,,2.405(M),-0.9535(T),,chr1,223813586,223813586,G,T,hom,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser245Tyr/c.734C>A|594|CAPN8|protein_coding|CODING|NM_001143962.1|6|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,IMR90:H3K27me3",,,,0.6748,0.5432,0.5229,0.58,0.66,0.54,,,0.100(P),,0.0000(T),.,3.976874,5.41,4.44,0.655000,2.523000,7.875000,0.738000,0.990000,1.000000,15.2492
missense_variant,CAPN2,MISSENSE,NM_001748.4:p.Asp22Glu/c.66C>G,gaC/gaG,MODERATE,COSM4143383(4),0.98742,1,rs25655,1(T),0.0(B),-0.72(N),-0.9520(T),,chr1,223900408,223900408,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp22Glu/c.66C>G|700|CAPN2|protein_coding|CODING|NM_001748.4|1|1),intron_variant(MODIFIER|||c.4-5056C>G|622|CAPN2|protein_coding|CODING|NM_001146068.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,HeLa-S3:Ini1,CD4:H3K4ac,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9971,1,0.98,0.95,1.00,,0.868725(N),0.969(P),-4.24(D),0.0000(T),0.044,-0.360853,4.11,2.09,-0.322000,0.227000,-0.178000,0.757000,0.411000,0.000000,9.8213
synonymous_variant,CAPN2,SILENT,NM_001748.4:p.Ala194Ala/c.582G>A,gcG/gcA,LOW,,0.683906,0.7143,rs17600,,,,,,chr1,223934720,223934720,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala116Ala/c.348G>A|622|CAPN2|protein_coding|CODING|NM_001146068.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala194Ala/c.582G>A|700|CAPN2|protein_coding|CODING|NM_001748.4|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9346,0.7233,0.9016,0.74,0.40,0.91,,,,,,,,,,,,,,,,
synonymous_variant,NVL,SILENT,NM_002533.3:p.Leu246Leu/c.738G>A,ctG/ctA,LOW,,0.820088,0.8899,rs3754090,,,,-1.0318(T),,chr1,224492746,224492746,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu30Leu/c.90G>A|667|NVL|protein_coding|CODING|NM_001243146.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu155Leu/c.465G>A|765|NVL|protein_coding|CODING|NM_001243147.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu246Leu/c.738G>A|856|NVL|protein_coding|CODING|NM_002533.3|7|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu140Leu/c.420G>A|750|NVL|protein_coding|CODING|NM_206840.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9162,0.9337,0.9672,0.83,0.59,0.94,,,0.157(P),,0.0000(T),.,-0.557590,5.59,2.68,0.655000,0.300000,0.128000,0.376000,0.283000,0.919000,2.2221
synonymous_variant,NVL,SILENT,NM_002533.3:p.Arg152Arg/c.456G>A,cgG/cgA,LOW,,0.821685,0.8899,rs7534447,,,,,,chr1,224495852,224495852,C,T,hom,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg152Arg/c.456G>A|856|NVL|protein_coding|CODING|NM_002533.3|6|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg46Arg/c.138G>A|750|NVL|protein_coding|CODING|NM_206840.2|5|1),intron_variant(MODIFIER|||c.343-2984G>A|765|NVL|protein_coding|CODING|NM_001243147.1|5|1),intron_variant(MODIFIER|||c.-33-2984G>A|667|NVL|protein_coding|CODING|NM_001243146.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9172,0.9337,0.9672,0.83,0.60,0.94,,,,,,,,,,,,,,,,
missense_variant,CNIH4,MISSENSE,NM_014184.3:p.Phe6Val/c.16T>G,Ttc/Gtc,MODERATE,,,,rs199803522,0(D),0.061(B),2.805(M),-0.6286(T),,chr1,224544642,224544642,T,G,het,"missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe6Val/c.16T>G|92|CNIH4|protein_coding|CODING|NM_001277197.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe6Val/c.16T>G|114|CNIH4|protein_coding|CODING|NM_001277198.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe6Val/c.16T>G|137|CNIH4|protein_coding|CODING|NM_001277200.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe6Val/c.16T>G|139|CNIH4|protein_coding|CODING|NM_014184.3|1|1),5_prime_UTR_variant(MODIFIER||8990|c.-452T>G|76|CNIH4|protein_coding|CODING|NM_001277199.1|1|1),non_coding_exon_variant(MODIFIER|||n.130T>G||CNIH4||CODING|NR_102347.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:SIX5,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,,,,0.00,0.00,0.00,,0.000000(D),1.000(D),"0.56,0.56,0.56,0.56(T,T,T,T)",0.2120(T),0.808,3.438591,4.0,4.0,0.260000,1.795000,6.082000,0.548000,1.000000,1.000000,12.9967
synonymous_variant,DNAH14,SILENT,NM_001373.1:p.Cys520Cys/c.1560C>T,tgC/tgT,LOW,,0.701278,0.7212,rs2501107,,,,,,chr1,225230608,225230608,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys520Cys/c.1560C>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|13|1),,,,,0.8333,0.7651,0.9553,0.82,0.51,0.96,,,,,,,,,,,,,,,,
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Leu828Val/c.2482C>G,Ctg/Gtg,MODERATE,,0.702276,0.7212,rs3105559,1(T),0.0(B),0(N),-0.9621(T),,chr1,225266966,225266966,C,G,hom,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu828Val/c.2482C>G|4515|DNAH14|protein_coding|CODING|NM_001373.1|18|1),,,,,0.8333,0.7651,0.9553,0.83,0.52,0.96,,,0.000(P),"3.42,1.82,1.82(T,T,T)",0.0000(T),0.076,-1.818862,5.37,2.41,-0.499000,0.001000,0.331000,0.121000,0.939000,1.000000,4.6943
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Lys1010Arg/c.3029A>G,aAg/aGg,MODERATE,,0.703275,0.7262,rs3128651,0.56(T),0.0(B),0.55(N),-0.9986(T),,chr1,225268343,225268343,A,G,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys1010Arg/c.3029A>G|4515|DNAH14|protein_coding|CODING|NM_001373.1|19|1),,,,,0.8333,0.7651,0.9553,0.83,0.52,0.96,,,1.000(P),"2.51,0.13,0.13,0.13(T,T,T,T)",0.0000(T),0.041,-0.488317,5.14,3.22,-0.294000,0.261000,-0.611000,0.023000,0.014000,0.000000,4.5831
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Arg1011Gln/c.3032G>A,cGa/cAa,MODERATE,,0.702676,0.7262,rs3128652,0.59(T),0.0(B),0.345(N),-1.0221(T),,chr1,225268346,225268346,G,A,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1011Gln/c.3032G>A|4515|DNAH14|protein_coding|CODING|NM_001373.1|19|1),,,,,0.8333,0.7651,0.9523,0.83,0.52,0.96,,,1.000(P),"2.59,0.21,0.21,0.21(T,T,T,T)",0.0000(T),0.05,0.778109,5.14,-6.66,-2.010000,-1.156000,-2.596000,0.001000,0.000000,0.000000,6.1158
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Asn1099Tyr/c.3295A>T,Aac/Tac,MODERATE,COSM4143393(1),0.662141,0.7133,rs3128655,0.08(T),0.66(P),0.115(N),-0.9899(T),,chr1,225270409,225270409,A,T,hom,missense_variant(MODERATE|MISSENSE|Aac/Tac|p.Asn1099Tyr/c.3295A>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|20|1),,,,,0.7771,0.7277,0.8817,0.76,0.47,0.89,,,1.000(P),"0.08,0.08,0.08(T,T,T)",0.0000(T),0.094,1.690826,5.12,0.889,0.491000,0.240000,1.599000,0.359000,0.015000,0.997000,7.0226
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Met1110Ile/c.3330G>T,atG/atT,MODERATE,,0.702077,0.7202,rs3128658,0.17(T),0.082(B),-0.455(N),-1.0110(T),,chr1,225273248,225273248,G,T,hom,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met1110Ile/c.3330G>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|21|1),splice_region_variant(LOW|||c.3330G>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|21|1)",,,,,0.8333,0.7651,0.9553,0.83,0.52,0.96,,,0.000(P),"0.32,0.32,0.32(T,T,T)",0.0000(T),0.116,-0.449106,5.77,3.9,0.603000,0.788000,1.535000,0.089000,0.990000,1.000000,8.8743
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Thr1850Met/c.5549C>T,aCg/aTg,MODERATE,COSM3773476(2),0.17512,0.3125,rs61851487,0.07(T),0.016(B),2.275(M),-1.0416(T),,chr1,225373072,225373072,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1850Met/c.5549C>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|36|1),,,,,0.1431,0.1902,0.1133,0.12,0.13,0.12,,,1.000(P),"3.24,1.33,1.33,1.57(T,T,T,T)",0.0000(T),0.074,0.923986,4.91,-0.12,-0.438000,-0.306000,0.204000,0.001000,0.000000,0.000000,8.5999
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Asp3393Glu/c.10179C>A,gaC/gaA,MODERATE,,0.529752,0.5089,rs3856145,0.25(T),0.152(B),,-0.9877(T),,chr1,225528183,225528183,C,A,het,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp3393Glu/c.10179C>A|4515|DNAH14|protein_coding|CODING|NM_001373.1|67|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.5695,0.4697,0.4046,0.49,0.61,0.44,,,0.000(P),"2.02,2.02,2.02(T,T,T)",0.0000(T),0.203,2.229518,5.22,0.724,0.508000,-0.062000,0.462000,0.977000,0.981000,1.000000,1.4675
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Lys3474Glu/c.10420A>G,Aaa/Gaa,MODERATE,,0.528954,0.5089,rs6667999,1(T),0.0(B),,-0.9232(T),,chr1,225533684,225533684,A,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys3474Glu/c.10420A>G|4515|DNAH14|protein_coding|CODING|NM_001373.1|68|1),,,,,0.5695,0.4697,0.4046,0.49,0.61,0.44,,,1.000(P),"0.59,0.59,0.59(T,T,T)",0.0000(T),0.253,-2.137791,5.34,3.37,-0.294000,0.621000,1.958000,0.022000,0.026000,0.836000,7.3982
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Val3627Ala/c.10880T>C,gTa/gCa,MODERATE,,0.529153,0.5089,rs7527925,0.55(T),0.001(B),,-0.9285(T),,chr1,225534219,225534219,T,C,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val3627Ala/c.10880T>C|4515|DNAH14|protein_coding|CODING|NM_001373.1|69|1),HUVEC:H3K27me3,,,,0.5695,0.4697,0.4046,0.49,0.61,0.44,,,1.000(P),"0.76,0.76,0.76(T,T,T)",0.0000(T),0.317,-0.357714,5.48,3.53,-0.294000,0.662000,0.067000,0.949000,0.155000,0.000000,3.7279
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Arg3670Lys/c.11009G>A,aGa/aAa,MODERATE,COSM3804080(2),0.529153,0.5089,rs7535953,1(T),0.002(B),,-0.9575(T),,chr1,225534348,225534348,G,A,het,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg3670Lys/c.11009G>A|4515|DNAH14|protein_coding|CODING|NM_001373.1|69|1),HUVEC:H3K27me3,,,,0.5695,0.4697,0.4046,,,,,,1.000(P),"1.05,1.05,1.05(T,T,T)",0.0000(T),0.125,-0.431729,4.94,-3.81,-0.357000,-0.823000,-0.207000,0.463000,0.000000,0.000000,6.7277
synonymous_variant,DNAH14,SILENT,NM_001373.1:p.Ala3939Ala/c.11817C>T,gcC/gcT,LOW,COSM3750919(2),0.32508,0.2321,rs11578981,,,,,,chr1,225555512,225555512,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala3939Ala/c.11817C>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|75|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.2761,0.4366,0.5696,0.46,0.25,0.56,,,,,,,,,,,,,,,,
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Asn3969Lys/c.11907T>G,aaT/aaG,MODERATE,COSM3750920(2),0.329473,0.2321,rs12737248,0.92(T),0.001(B),,-0.9280(T),,chr1,225555602,225555602,T,G,het,missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn3969Lys/c.11907T>G|4515|DNAH14|protein_coding|CODING|NM_001373.1|75|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.2914,0.4366,0.5716,0.47,0.26,0.56,,,1.000(P),"3.16,3.16(T,T)",0.0000(T),0.016,-0.149327,5.03,-10.1,-0.628000,-2.605000,-1.557000,0.797000,0.001000,0.000000,1.9825
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Leu4096Pro/c.12287T>C,cTt/cCt,MODERATE,,0.55631,0.7619,rs3856154,0.32(T),0.001(B),-0.57(N),-1.0865(T),,chr1,225565015,225565015,T,C,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu4096Pro/c.12287T>C|4515|DNAH14|protein_coding|CODING|NM_001373.1|77|1),GM12878:H3K36me3,,,,0.454,0.7507,0.659,0.56,0.34,0.66,,,1.000(P),"3.08,3.08,3.08(T,T,T)",0.0000(T),0.035,0.754493,5.24,4.32,-0.294000,1.208000,1.784000,0.371000,0.318000,0.008000,10.4193
synonymous_variant,DNAH14,SILENT,NM_001373.1:p.Gly4115Gly/c.12345C>T,ggC/ggT,LOW,COSM3750921(1),0.491813,0.7411,rs3856155,,,,,,chr1,225565073,225565073,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly4115Gly/c.12345C>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|77|1),GM12878:H3K36me3,,,,0.3885,0.7118,0.6123,0.49,0.23,0.60,,,,,,,,,,,,,,,,
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Phe4244Cys/c.12731T>G,tTt/tGt,MODERATE,,0.528355,0.7639,rs950210,0.16(T),0.0(B),1.34(L),-1.0835(T),,chr1,225569241,225569241,T,G,het,missense_variant(MODERATE|MISSENSE|tTt/tGt|p.Phe4244Cys/c.12731T>G|4515|DNAH14|protein_coding|CODING|NM_001373.1|79|1),GM12878:H3K36me3,,,,0.454,0.7435,0.6561,0.53,0.24,0.66,,,1.000(P),"3.05,3.05,3.05(T,T,T)",0.0000(T),0.247,0.872719,4.87,1.16,-0.323000,0.225000,2.893000,0.003000,0.000000,0.136000,2.9207
missense_variant,DNAH14,MISSENSE,NM_001373.1:p.Gly4413Val/c.13238G>T,gGg/gTg,MODERATE,,0.00978435,0,rs41304131,0(D),1.0(D),3(M),-0.8560(T),,chr1,225586274,225586274,G,T,het,missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly4413Val/c.13238G>T|4515|DNAH14|protein_coding|CODING|NM_001373.1|83|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0101,0.0338,0.02,0.00,0.03,,,1.000(D),"2.1,2.1,2.1(T,T,T)",0.0741(T),0.706,2.931346,5.24,5.24,0.557000,2.834000,5.025000,0.153000,0.968000,1.000000,16.5995
missense_variant,LBR,MISSENSE,NM_002296.3:p.Ser154Asn/c.461G>A,aGt/aAt,MODERATE,,0.71226,0.9633,rs2230419,0.53(T),"0.007,0.01(B,B)",0(N),-1.0199(T),,chr1,225607144,225607144,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser154Asn/c.461G>A|615|LBR|protein_coding|CODING|NM_002296.3|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser154Asn/c.461G>A|615|LBR|protein_coding|CODING|NM_194442.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.8602,0.8419,0.70,0.44,0.84,,0.904489(N),1.000(P),"-4.17,-4.17,0.55(D,D,T)",0.0000(T),0.05,-0.732544,5.78,-7.95,-3.192000,-2.550000,-0.188000,0.004000,0.000000,0.000000,5.0731
synonymous_variant,LBR,SILENT,NM_002296.3:p.Pro87Pro/c.261T>C,ccT/ccC,LOW,,0.670927,0.9018,rs1056608,,,,,,chr1,225609884,225609884,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro87Pro/c.261T>C|615|LBR|protein_coding|CODING|NM_002296.3|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro87Pro/c.261T>C|615|LBR|protein_coding|CODING|NM_194442.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.6401,0.8329,0.8022,0.66,0.40,0.79,,,,,,,,,,,,,,,,
synonymous_variant,LBR,SILENT,NM_002296.3:p.Val39Val/c.117G>A,gtG/gtA,LOW,,0.657149,0.744,rs1056607,,,,,,chr1,225611661,225611661,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val39Val/c.117G>A|615|LBR|protein_coding|CODING|NM_002296.3|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val39Val/c.117G>A|615|LBR|protein_coding|CODING|NM_194442.2|2|1)","HeLa-S3:H3K79me2,GM12878:H3K4me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,K562:H3K79me2,GM06990:H3K36me3,GM12878:H3K4me2,HSMM:H3K79me2",,,,0.4663,0.7839,0.7058,0.70,0.64,0.73,,,,,,,,,,,,,,,,
missense_variant,EPHX1,MISSENSE,NM_000120.3:p.Tyr113His/c.337T>C,Tac/Cac,MODERATE,COSM3997292(2),0.313299,0.4821,rs1051740,0(D),0.986(D),2.185(M),-0.8856(T),,chr1,226019633,226019633,T,C,het,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr113His/c.337T>C|455|EPHX1|protein_coding|CODING|NM_000120.3|3|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr113His/c.337T>C|455|EPHX1|protein_coding|CODING|NM_001136018.3|3|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr113His/c.337T>C|455|EPHX1|protein_coding|CODING|NM_001291163.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000018075.1|RCV000018076.1|RCV000018077.1|RCV000018078.1,,0.3773,0.3199,0.3042,0.26,0.18,0.30,,0.000005(D),0.000(P),"3.7,3.7,3.7,3.7(T,T,T,T)",0.0000(T),0.678,4.990224,5.58,5.58,0.454000,2.136000,7.809000,0.991000,0.932000,1.000000,15.7585
synonymous_variant,EPHX1,SILENT,NM_000120.3:p.Lys119Lys/c.357G>A,aaG/aaA,LOW,COSM3750927(1),0.191094,0.2867,rs1131873,,,,,,chr1,226019653,226019653,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys119Lys/c.357G>A|455|EPHX1|protein_coding|CODING|NM_000120.3|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys119Lys/c.357G>A|455|EPHX1|protein_coding|CODING|NM_001136018.3|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys119Lys/c.357G>A|455|EPHX1|protein_coding|CODING|NM_001291163.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2536,0.1484,0.162,0.14,0.15,0.14,,,,,,,,,,,,,,,,
missense_variant,LEFTY1,MISSENSE,NM_020997.3:p.Asp322Ala/c.965A>C,gAc/gCc,MODERATE,COSM1339274(5),0.254792,0.2073,rs360057,0.41(T),0.0(B),-1.385(N),-0.9648(T),,chr1,226074563,226074563,T,G,het,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp322Ala/c.965A>C|366|LEFTY1|protein_coding|CODING|NM_020997.3|4|1),"HepG2:H3K4me2,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3",,,,0.2526,0.3415,0.3946,0.30,0.19,0.36,,0.016436(N),1.000(P),-0.47(T),0.0000(T),0.093,-1.720453,4.14,2.09,-0.672000,0.753000,5.788000,0.063000,0.011000,1.000000,9.6529
synonymous_variant,LEFTY1,SILENT,NM_020997.3:p.Val125Val/c.375C>T,gtC/gtT,LOW,COSM3749031(1),0.160343,0.1131,rs12753531,0(D),0.041(B),,-1.1020(T),,chr1,226075608,226075608,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val125Val/c.375C>T|366|LEFTY1|protein_coding|CODING|NM_020997.3|2|1),"H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3",,,,0.2025,0.2017,0.2674,,,,,,1.000(P),-1.61(D),0.0001(T),.,0.871818,3.63,1.62,-0.676000,0.142000,0.105000,0.044000,0.314000,0.576000,9.8091
missense_variant,ACBD3,MISSENSE,NM_022735.3:p.Glu187Asp/c.561A>C,gaA/gaC,MODERATE,COSM3997294(1),0.53115,0.4504,rs2306120,0.38(T),0.237(B),2.645(M),-1.0481(T),,chr1,226352498,226352498,T,G,hom,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu187Asp/c.561A>C|528|ACBD3|protein_coding|CODING|NM_022735.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3436,0.6383,0.6103,0.60,0.59,0.60,,0.000000(D),0.354(P),1.49(T),0.0000(T),0.167,3.007681,5.9,-6.12,0.482000,-1.147000,-0.049000,0.994000,0.616000,0.900000,19.1011
synonymous_variant,LIN9,SILENT,NM_173083.3:p.Phe158Phe/c.474C>T,ttC/ttT,LOW,COSM3930661(1),0.707468,0.745,rs10799347,,,,,,chr1,226474132,226474132,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe123Phe/c.369C>T|523|LIN9|protein_coding|CODING|NM_001270409.1|5|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe90Phe/c.270C>T|490|LIN9|protein_coding|CODING|NM_001270410.1|6|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe158Phe/c.474C>T|558|LIN9|protein_coding|CODING|NM_173083.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6636,0.6657,0.6799,0.70,0.74,0.69,,,,,,,,,,,,,,,,
synonymous_variant,PARP1,SILENT,NM_001618.3:p.Lys352Lys/c.1056A>G,aaA/aaG,LOW,COSM3746819(3),0.789337,0.5635,rs1805415,,,,,,chr1,226570840,226570840,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys352Lys/c.1056A>G|1014|PARP1|protein_coding|CODING|NM_001618.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8998,0.6455,0.8459,0.86,0.90,0.84,,,,,,,,,,,,,,,,
synonymous_variant,ITPKB,SILENT,NM_002221.3:p.Ala632Ala/c.1896C>T,gcC/gcT,LOW,COSM146796(1),0.28155,0.2639,rs708775,,,,,,chr1,226923264,226923264,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala632Ala/c.1896C>T|946|ITPKB|protein_coding|CODING|NM_002221.3|2|1),"CD4:H3K9me1,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,CD4:PolII,CD4:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2935,0.317,0.3141,0.28,0.25,0.29,,,,,,,,,,,,,,,,
missense_variant,ITPKB,MISSENSE,NM_002221.3:p.Pro552Gln/c.1655C>A,cCg/cAg,MODERATE,,0.979832,1,rs708776,0.61(T),0.0(B),-0.345(N),-1.0115(T),,chr1,226923505,226923505,G,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro552Gln/c.1655C>A|946|ITPKB|protein_coding|CODING|NM_002221.3|2|1),"CD4:H3K9me1,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,CD4:PolII,CD4:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.9928,0.9553,0.9423,0.96,0.99,0.94,,0.483806(N),1.000(P),"1.98,1.98,1.93(T,T,T)",0.0000(T),0.024,1.017178,5.54,-4.95,-0.494000,-0.777000,-0.899000,0.475000,0.005000,0.000000,2.0788
missense_variant,ITPKB,MISSENSE,NM_002221.3:p.Ser408Ala/c.1222T>G,Tcc/Gcc,MODERATE,COSM425464(2),0.610423,0.6786,rs6667260,1(T),0.0(B),-0.695(N),-0.9439(T),,chr1,226923938,226923938,A,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser408Ala/c.1222T>G|946|ITPKB|protein_coding|CODING|NM_002221.3|2|1),"GM12878:H3K4me3,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,CD4:PolII,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.5971,0.6599,0.5258,0.51,0.58,0.48,,0.982952(N),1.000(P),"2.07,2.07,2.06(T,T,T)",0.0000(T),0.028,-1.111789,4.1,1.01,-0.323000,-0.121000,0.079000,0.072000,0.001000,0.000000,3.0407
synonymous_variant,PSEN2,SILENT,NM_000447.2:p.Ala23Ala/c.69T>C,gcT/gcC,LOW,,0.735623,0.5427,rs11405,,,,,,chr1,227069677,227069677,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala23Ala/c.69T>C|448|PSEN2|protein_coding|CODING|NM_000447.2|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala23Ala/c.69T>C|447|PSEN2|protein_coding|CODING|NM_012486.2|4|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7495,0.7176,0.8022,0.79,0.82,0.78,,,,,,,,,,,,,,,,
synonymous_variant,PSEN2,SILENT,NM_000447.2:p.Asn43Asn/c.129C>T,aaC/aaT,LOW,,0.443291,0.3859,rs6759,,,,,,chr1,227069737,227069737,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn43Asn/c.129C>T|448|PSEN2|protein_coding|CODING|NM_000447.2|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn43Asn/c.129C>T|447|PSEN2|protein_coding|CODING|NM_012486.2|4|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4264,0.4827,0.5934,0.49,0.39,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PSEN2,SILENT,NM_000447.2:p.His87His/c.261C>T,caC/caT,LOW,COSM4143427(1),0.443291,0.3859,rs1046240,,,,,,chr1,227071525,227071525,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His87His/c.261C>T|448|PSEN2|protein_coding|CODING|NM_000447.2|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His87His/c.261C>T|447|PSEN2|protein_coding|CODING|NM_012486.2|5|1)","H1ESC:H3K36me3,GM12878:H3K27ac,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4264,0.4827,0.5934,0.49,0.39,0.54,,,,,,,,,,,,,,,,
synonymous_variant,ADCK3,SILENT,NM_020247.4:p.Ala39Ala/c.117G>A,gcG/gcA,LOW,COSM3750928(1),0.0806709,0.001,rs11549708,,,,,,chr1,227149203,227149203,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala39Ala/c.117G>A|647|ADCK3|protein_coding|CODING|NM_020247.4|2|1),"K562:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3",,RCV000116234.2,,0.0665,0.111,0.2187,0.18,0.06,0.24,,,,,,,,,,,,,,,,
synonymous_variant,ADCK3,SILENT,NM_020247.4:p.Phe480Phe/c.1440C>T,ttC/ttT,LOW,COSM146801(4),0.238618,0.1716,rs12593,,,,,,chr1,227172290,227172290,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe480Phe/c.1440C>T|647|ADCK3|protein_coding|CODING|NM_020247.4|12|1),"H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116235.2,,0.1912,0.2695,0.4274,0.37,0.21,0.46,,,,,,,,,,,,,,,,
synonymous_variant,ADCK3,SILENT,NM_020247.4:p.Ser572Ser/c.1716T>C,tcT/tcC,LOW,COSM3997300(1),0.313898,0.2133,rs3738725,,,,,,chr1,227174210,227174210,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser572Ser/c.1716T>C|647|ADCK3|protein_coding|CODING|NM_020247.4|15|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116236.2,,0.2679,0.3127,0.494,0.44,0.32,0.51,,,,,,,,,,,,,,,,
missense_variant,CDC42BPA,MISSENSE,NM_003607.3:p.Ala1699Val/c.5096C>T,gCt/gTt,MODERATE,,0.878195,0.8869,rs2802269,1(T),"0.0,0.002,0.001,0.001,0.0,0.001(B,B,B,B,B,B)",0.205(N),-0.9395(T),,chr1,227182033,227182033,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala1699Val/c.5096C>T|1719|CDC42BPA|protein_coding|CODING|NM_003607.3|36|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala1618Val/c.4853C>T|1638|CDC42BPA|protein_coding|CODING|NM_014826.4|35|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:DNase1",,,,0.8139,0.8718,0.8738,0.90,0.92,0.89,,0.106560(N),1.000(P),"-0.19,-0.18,-0.16,-0.18,-0.23,-0.19,-0.19(T,T,T,T,T,T,T)",0.0000(T),0.313,1.606604,4.94,1.22,-0.361000,-0.225000,2.033000,0.978000,0.002000,0.635000,5.5958
synonymous_variant,CDC42BPA,SILENT,NM_003607.3:p.Ser1659Ser/c.4977T>C,tcT/tcC,LOW,,0.826877,0.8274,rs1045247,,,,-1.0499(T),,chr1,227182575,227182575,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1659Ser/c.4977T>C|1719|CDC42BPA|protein_coding|CODING|NM_003607.3|35|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1578Ser/c.4734T>C|1638|CDC42BPA|protein_coding|CODING|NM_014826.4|34|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6125,0.8372,0.826,0.86,0.94,0.81,,,0.000(P),,0.0000(T),.,0.486445,4.95,-9.9,-1.000000,-3.340000,-4.608000,0.647000,0.094000,0.000000,1.4792
missense_variant,JMJD4,MISSENSE,NM_023007.2:p.Ala11Val/c.32C>T,gCg/gTg,MODERATE,COSM3749033(4),1,1,rs7419238,1(T),"0.0,0.0(B,B)",-0.345(N),-1.0075(T),,chr1,227923081,227923081,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala11Val/c.32C>T|447|JMJD4|protein_coding|CODING|NM_001161465.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala11Val/c.32C>T|463|JMJD4|protein_coding|CODING|NM_023007.2|1|1),5_prime_UTR_variant(MODIFIER||30|c.-30G>A|464|SNAP47|protein_coding|CODING|NM_053052.3|1|1),downstream_gene_variant(MODIFIER||1026|||LOC100130093||NON_CODING|NR_024485.1||1),downstream_gene_variant(MODIFIER||1026|||LOC100130093||NON_CODING|NR_024486.1||1)","K562:ZBTB7A,H1ESC:PolII,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HUVEC:PolII,GM12878:ETS1,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,H1ESC:Gabp,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,GM12878:ZZZ3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Gabp,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,HeLa-S3:PolII,HepG2:HNF4A,HeLa-S3:Ap2alpha,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:HEY1,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,1,1,1,1.00,1.00,1.00,,,1.000(P),2.12(T),0.0000(T),0.033,-0.253926,3.58,1.99,-0.268000,-0.047000,-0.100000,0.004000,0.000000,0.000000,5.7765
missense_variant,PRSS38,MISSENSE,NM_183062.2:p.Ala123Asp/c.368C>A,gCc/gAc,MODERATE,,0.0121805,0,rs61826983,0.14(T),0.977(D),-0.275(N),-0.5870(T),,chr1,228004966,228004966,C,A,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala123Asp/c.368C>A|326|PRSS38|protein_coding|CODING|NM_183062.2|3|1),,,,,0.0082,0.0173,0.0398,0.02,0.01,0.03,,0.074077(N),1.000(N),-2.38(D),0.2378(T),0.171,1.516243,4.23,3.31,0.655000,1.359000,0.239000,0.091000,0.011000,0.001000,8.0252
missense_variant,PRSS38,MISSENSE,NM_183062.2:p.Met204Val/c.610A>G,Atg/Gtg,MODERATE,,0.797324,0.6915,rs9426581,0.91(T),0.0(B),-2.205(N),-0.9747(T),,chr1,228033197,228033197,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met204Val/c.610A>G|326|PRSS38|protein_coding|CODING|NM_183062.2|4|1),"K562:Znf263,HepG2:H3K27me3",,,,0.9141,0.7637,0.8439,0.84,0.80,0.86,,0.636096(N),1.000(P),0.52(T),0.0000(T),0.039,-0.479333,4.07,3.16,-0.119000,0.709000,0.030000,0.021000,0.627000,0.006000,6.5397
synonymous_variant,WNT9A,SILENT,NM_003395.2:p.Ala90Ala/c.270G>A,gcG/gcA,LOW,COSM3750934(1),0.0826677,0.0992,rs8192629,,,,,,chr1,228113046,228113046,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala90Ala/c.270G>A|365|WNT9A|protein_coding|CODING|NM_003395.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1258,0.0576,0.0696,0.08,0.06,0.09,,,,,,,,,,,,,,,,
synonymous_variant,WNT9A,SILENT,NM_003395.2:p.Ala51Ala/c.153T>C,gcT/gcC,LOW,COSM425495(7),0.6877,0.6091,rs3795768,,,,,,chr1,228113163,228113163,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala51Ala/c.153T>C|365|WNT9A|protein_coding|CODING|NM_003395.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5603,0.6499,0.67,0.75,0.84,0.71,,,,,,,,,,,,,,,,
synonymous_variant,GUK1,SILENT,NM_001242840.1:p.Ala111Ala/c.333C>T,gcC/gcT,LOW,COSM3750937(1),0.086861,0.1984,rs1803695,,,,,,chr1,228335125,228335125,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala90Ala/c.270C>T|197|GUK1|protein_coding|CODING|NM_000858.5|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala111Ala/c.333C>T|218|GUK1|protein_coding|CODING|NM_001159390.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala90Ala/c.270C>T|197|GUK1|protein_coding|CODING|NM_001159391.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala90Ala/c.270C>T|197|GUK1|protein_coding|CODING|NM_001242839.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala111Ala/c.333C>T|241|GUK1|protein_coding|CODING|NM_001242840.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0593,0.0634,0.0358,0.05,0.08,0.04,,,,,,,,,,,,,,,,
synonymous_variant,GJC2,SILENT,NM_020435.3:p.Ala322Ala/c.966G>C,gcG/gcC,LOW,,,,rs4653910,,,,,,chr1,228346425,228346425,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala322Ala/c.966G>C|439|GJC2|protein_coding|CODING|NM_020435.3|2|1),"H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,IBA57,MISSENSE,NM_001010867.2:p.Gly45Ala/c.134G>C,gGa/gCa,MODERATE,COSM4143448(3),0.35603,0.373,rs55873785,0.3(T),0.026(B),0.55(N),-0.9529(T),,chr1,228353651,228353651,G,C,het,"missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly45Ala/c.134G>C|356|IBA57|protein_coding|CODING|NM_001010867.2|1|1),upstream_gene_variant(MODIFIER||1102|||IBA57-AS1||NON_CODING|NR_103539.1||1),upstream_gene_variant(MODIFIER||438|||IBA57-AS1||NON_CODING|NR_103540.1||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HSMM:CTCF,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,GM12878:CTCF,GM12878:Egr1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,K562:E2F6,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Nrsf,HeLa-S3:E2F1,H1ESC:TAF7,GM12878:DNase1,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,K562:E2F4,K562:Jund,GM12878:Sin3Ak20",,,,0.5644,0.3357,0.4165,,,,,0.281094(N),1.000(P),0.87(T),0.0000(T),0.098,1.169067,3.98,1.02,-1.943000,-0.226000,0.694000,0.002000,0.000000,0.000000,8.6843
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ala94Ala/c.282T>C,gcT/gcC,LOW,COSM1339475(8),0.726238,0.8244,rs55971985,,,,,,chr1,228399766,228399766,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala94Ala/c.282T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala94Ala/c.282T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala94Ala/c.282T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|2|1),intron_variant(MODIFIER|||n.234+1357A>G||C1orf145||NON_CODING|NR_073155.1|1|1),intron_variant(MODIFIER|||n.630+456A>G||C1orf145||NON_CODING|NR_073154.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.8027,0.6441,0.6372,0.64,0.69,0.62,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Cys105Cys/c.315C>T,tgC/tgT,LOW,COSM3750945(3),0.0507188,0.121,rs11582369,,,,,,chr1,228399799,228399799,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys105Cys/c.315C>T|7968|OBSCN|protein_coding|CODING|NM_001098623.2|2|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys105Cys/c.315C>T|8923|OBSCN|protein_coding|CODING|NM_001271223.2|2|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys105Cys/c.315C>T|6620|OBSCN|protein_coding|CODING|NM_052843.3|2|1),intron_variant(MODIFIER|||n.234+1324G>A||C1orf145||NON_CODING|NR_073155.1|1|1),intron_variant(MODIFIER|||n.630+423G>A||C1orf145||NON_CODING|NR_073154.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0409,0.0591,0.0338,0.03,0.02,0.04,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Leu477Leu/c.1431A>G,ctA/ctG,LOW,COSM1339492(4),0.719848,0.8244,rs1620111,,,,,,chr1,228402047,228402047,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu477Leu/c.1431A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu477Leu/c.1431A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu477Leu/c.1431A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|4|1),upstream_gene_variant(MODIFIER||691|||C1orf145||NON_CODING|NR_073155.1||1),upstream_gene_variant(MODIFIER||682|||C1orf145||NON_CODING|NR_073154.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:H3K36me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8047,0.6427,0.6372,0.63,0.67,0.61,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Gln502Arg/c.1505A>G,cAg/cGg,MODERATE,,0.719649,0.8244,rs1771487,0.75(T),"0.013,0.016(B,B)",0.31(N),-1.0013(T),,chr1,228402121,228402121,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln502Arg/c.1505A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln502Arg/c.1505A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln502Arg/c.1505A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|4|1),upstream_gene_variant(MODIFIER||765|||C1orf145||NON_CODING|NR_073155.1||1),upstream_gene_variant(MODIFIER||756|||C1orf145||NON_CODING|NR_073154.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,H1ESC:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:H3K36me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8037,0.6427,0.6362,0.63,0.66,0.61,,0.000099(D),0.000(P),"-1.0,-1.0(T,T)",0.0000(T),0.247,3.467805,5.27,5.27,0.533000,1.979000,3.871000,0.819000,1.000000,1.000000,15.1655
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Leu513Leu/c.1537C>T,Ctg/Ttg,LOW,,0.275759,0.1706,rs2776853,,,,,,chr1,228402508,228402508,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu513Leu/c.1537C>T|7968|OBSCN|protein_coding|CODING|NM_001098623.2|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu513Leu/c.1537C>T|8923|OBSCN|protein_coding|CODING|NM_001271223.2|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu513Leu/c.1537C>T|6620|OBSCN|protein_coding|CODING|NM_052843.3|5|1),upstream_gene_variant(MODIFIER||1152|||C1orf145||NON_CODING|NR_073155.1||1),upstream_gene_variant(MODIFIER||1143|||C1orf145||NON_CODING|NR_073154.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.1963,0.353,0.3618,0.37,0.33,0.39,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ala724Ala/c.2172G>A,gcG/gcA,LOW,COSM3750946(1),0.0535144,0.119,rs61501937,,,,,,chr1,228404198,228404198,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala724Ala/c.2172G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala724Ala/c.2172G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala724Ala/c.2172G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|7|1)","H1ESC:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.047,0.0562,0.0338,0.03,0.03,0.04,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ser999Ser/c.2997T>C,agT/agC,LOW,,0.41254,0.3849,rs1771480,,,,,,chr1,228412227,228412227,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser907Ser/c.2721T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|9|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser999Ser/c.2997T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|10|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser907Ser/c.2721T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|9|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.2577,0.402,0.3668,,,,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Ala1000Thr/c.2998G>A,Gcc/Acc,MODERATE,,0.284145,0.1756,rs1757153,0.28(T),"0.326,0.695(B,P)",2.64(M),-0.8788(T),,chr1,228412228,228412228,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala908Thr/c.2722G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|9|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1000Thr/c.2998G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|10|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala908Thr/c.2722G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|9|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.1963,0.3559,0.3618,,,,,0.005681(N),0.000(P),"3.36,3.36(T,T)",0.0000(T),0.224,1.944173,4.42,3.5,0.655000,1.211000,2.707000,0.036000,0.906000,0.998000,12.898
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ser1026Ser/c.3078G>A,tcG/tcA,LOW,,0.41254,0.3839,rs1757152,,,,,,chr1,228412308,228412308,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser934Ser/c.2802G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1026Ser/c.3078G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser934Ser/c.2802G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|9|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.2577,0.402,0.3678,0.45,0.56,0.39,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Thr1139Thr/c.3417A>G,acA/acG,LOW,,0.616613,0.5992,rs1771455,,,,,,chr1,228431095,228431095,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1047Thr/c.3141A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1139Thr/c.3417A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1047Thr/c.3141A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|10|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.4571,0.6542,0.6412,0.70,0.74,0.68,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Thr1287Thr/c.3861A>G,acA/acG,LOW,,0.616613,0.5992,rs2487384,,,,,,chr1,228433217,228433217,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1195Thr/c.3585A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|12|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1287Thr/c.3861A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|13|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1195Thr/c.3585A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|12|1)","H1ESC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.4571,0.6542,0.6412,0.70,0.73,0.68,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ala1400Ala/c.4200T>C,gcT/gcC,LOW,COSM146810(1),0.617612,0.5992,rs7517088,,,,,,chr1,228434395,228434395,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1308Ala/c.3924T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|13|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1400Ala/c.4200T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1308Ala/c.3924T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|13|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.4571,0.6542,0.6412,0.70,0.73,0.68,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ala1424Ala/c.4272T>C,gcT/gcC,LOW,,0.66254,0.6151,rs7517108,,,,,,chr1,228434467,228434467,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1332Ala/c.3996T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|13|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1424Ala/c.4272T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1332Ala/c.3996T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|13|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.4622,0.6902,0.6421,0.73,0.83,0.68,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Val1600Asp/c.4799T>A,gTc/gAc,MODERATE,,1,1,rs7532342,1(T),"0.001,0.001(B,B)",-4.01(N),-0.9386(T),,chr1,228444565,228444565,T,A,hom,"missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val1508Asp/c.4523T>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|15|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val1600Asp/c.4799T>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|16|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val1508Asp/c.4523T>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|15|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.000644(N),0.000(P),"1.1,1.1,1.1(T,T,T)",0.0000(T),0.295,-1.048451,4.6,4.6,-0.496000,0.617000,6.585000,0.007000,0.031000,1.000000,10.5856
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.His2048Arg/c.6143A>G,cAc/cGc,MODERATE,,0.69349,0.75,rs1188724,0.4(T),,,-1.0040(T),,chr1,228461129,228461129,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His2048Arg/c.6143A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|21|1),intron_variant(MODIFIER|||c.5138-342A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|17|1),intron_variant(MODIFIER|||c.5138-342A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4601,0.6974,0.663,0.74,0.82,0.70,,,1.000(P),-0.12(T),0.0000(T),0.018,-1.701638,4.52,-1.1,-2.896000,-0.621000,-1.735000,0.000000,0.016000,0.000000,11.8163
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Asp2067Asp/c.6201T>C,gaT/gaC,LOW,,0.00958466,0,rs185495392,,,,,,chr1,228461187,228461187,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2067Asp/c.6201T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|21|1),intron_variant(MODIFIER|||c.5138-284T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|17|1),intron_variant(MODIFIER|||c.5138-284T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0174,0.0144,0.0189,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Asp2481Glu/c.7443T>G,gaT/gaG,MODERATE,COSM1339608(1),0.695487,0.75,rs1188721,1(T),"0.001,0.001(B,B)",-1.4(N),-1.0370(T),,chr1,228464248,228464248,T,G,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp2106Glu/c.6318T>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|22|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp2481Glu/c.7443T>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|26|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp2106Glu/c.6318T>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|22|1)","H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,K562:Znf263,H1ESC:H3K4me3,HUVEC:DNase1,K562:USF1,IMR90:H3K36me3,CD4:H2BK5me1,K562:E2F6,NHEK:H3K36me3,HepG2:H3K27me3,K562:DNase1",,,,0.4601,0.7003,0.664,0.74,0.82,0.70,,0.000001(N),0.000(P),"3.66,3.66,3.66(T,T,T)",0.0000(T),0.046,1.011395,5.14,-0.623,-0.232000,-0.225000,-0.293000,0.049000,0.994000,0.128000,7.2757
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Phe2491Leu/c.7471T>C,Ttc/Ctc,MODERATE,,0.663538,0.75,rs1188722,1(T),"0.0,0.001(B,B)",-2.96(N),-0.9840(T),,chr1,228464276,228464276,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe2116Leu/c.6346T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|22|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe2491Leu/c.7471T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|26|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe2116Leu/c.6346T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|22|1)","H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,K562:Znf263,HUVEC:DNase1,K562:USF1,IMR90:H3K36me3,CD4:H2BK5me1,K562:E2F6,NHEK:H3K36me3,HepG2:H3K27me3,K562:DNase1",,,,0.4601,0.6931,0.663,0.71,0.73,0.70,,0.001407(N),0.000(P),"3.98,3.98,3.98(T,T,T)",0.0000(T),0.115,1.103008,5.14,4.23,-1.097000,0.593000,0.888000,0.002000,0.082000,0.996000,11.7714
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Asn2674Asp/c.8020A>G,Aac/Gac,MODERATE,COSM3804194(1),0.330072,0.378,rs386596580,,,,,,chr1,228465346,228465346,A,G,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn2674Asp/c.8020A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|29|1),intron_variant(MODIFIER|||c.6755-109A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|24|1),intron_variant(MODIFIER|||c.6755-109A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|24|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1851,0.3617,0.3638,,,,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Arg3400Arg/c.10200G>C,cgG/cgC,LOW,COSM3997314(1),0.230232,0.1528,rs56168609,,,,,,chr1,228471379,228471379,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg2971Arg/c.8913G>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|33|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg3400Arg/c.10200G>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|38|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg2971Arg/c.8913G>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|33|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1626,0.3242,0.3499,0.33,0.25,0.37,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Thr3983Thr/c.11949A>G,acA/acG,LOW,,0.698882,0.749,rs1150908,,,,,,chr1,228480282,228480282,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr3554Thr/c.10662A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|40|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3983Thr/c.11949A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|45|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3554Thr/c.10662A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|40|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4366,0.7147,0.672,0.74,0.83,0.70,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Thr4161Thr/c.12483G>A,acG/acA,LOW,,0.00878594,0,rs55702382,,,,,,chr1,228481917,228481917,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr3732Thr/c.11196G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr4161Thr/c.12483G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|47|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3732Thr/c.11196G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|42|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0184,0.013,0.0149,0.02,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Leu4198Leu/c.12594G>C,ctG/ctC,LOW,,0.21246,0.1835,rs4653547,,,,,,chr1,228482028,228482028,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu3769Leu/c.11307G>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|42|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu4198Leu/c.12594G>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|47|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu3769Leu/c.11307G>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|42|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1074,0.2795,0.164,0.22,0.30,0.18,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Thr4399Met/c.13196C>T,aCg/aTg,MODERATE,COSM425517(1),0.165935,0.1518,rs56021350,0.23(T),,,-1.0169(T),,chr1,228486404,228486404,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr4399Met/c.13196C>T|8923|OBSCN|protein_coding|CODING|NM_001271223.2|49|1),intron_variant(MODIFIER|||c.11659+3660C>T|7968|OBSCN|protein_coding|CODING|NM_001098623.2|43|1),intron_variant(MODIFIER|||c.11659+3660C>T|6620|OBSCN|protein_coding|CODING|NM_052843.3|43|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0941,0.2378,0.1581,0.19,0.23,0.18,,,1.000(P),-0.36(T),0.0001(T),0.271,0.911956,4.68,-4.67,-0.254000,-1.387000,-2.459000,0.007000,0.000000,0.000000,12.6558
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Val4666Ile/c.13996G>A,Gtc/Atc,MODERATE,COSM3997322(1),0.052516,0.0962,rs11584418,0.09(T),,,-1.0631(T),,chr1,228491633,228491633,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val4666Ile/c.13996G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|52|1),intron_variant(MODIFIER|||c.11660-2440G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|43|1),intron_variant(MODIFIER|||c.11660-2440G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|43|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0368,0.0605,0.0328,0.05,0.07,0.04,,,0.000(P),2.59(T),0.0014(T),0.082,1.530267,4.87,2.99,0.561000,0.638000,1.053000,0.047000,0.004000,0.808000,6.7022
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ala4964Ala/c.14892G>A,gcG/gcA,LOW,,0.308506,0.497,rs4653939,,,,,,chr1,228494696,228494696,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4007Ala/c.12021G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|45|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4964Ala/c.14892G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|56|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4007Ala/c.12021G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|45|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1656,0.2925,0.1869,0.25,0.37,0.19,,,,,,,,,,,,,,,,
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Thr5180Thr/c.15540G>A,acG/acA,LOW,COSM425523(1),0.213059,0.1825,rs386446522,,,,,,chr1,228496014,228496014,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr4223Thr/c.12669G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|47|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr5180Thr/c.15540G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|58|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr4223Thr/c.12669G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|47|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1074,0.2781,0.161,0.22,0.32,0.18,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.His5338Arg/c.16013A>G,cAc/cGc,MODERATE,,0.700879,0.748,rs1150912,0.51(T),"0.0,0.001(B,B)",-0.435(N),-1.0354(T),,chr1,228503677,228503677,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His4381Arg/c.13142A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|50|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His5338Arg/c.16013A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|61|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His4381Arg/c.13142A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|50|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,K562:H3K27me3,K562:DNase1",,,,0.4387,0.7147,0.674,0.75,0.84,0.71,,0.159705(N),1.000(P),"3.63,3.63,3.63,3.63(T,T,T,T)",0.0000(T),0.027,2.149680,5.44,-6.7,-0.355000,-1.923000,-0.143000,0.302000,0.003000,0.003000,11.5095
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Cys5407Arg/c.16219T>C,Tgc/Cgc,MODERATE,COSM3750950(1),0.699281,0.748,rs1188732,0.57(T),"0.0,0.0(B,B)",-0.64(N),-1.0242(T),,chr1,228504472,228504472,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys4450Arg/c.13348T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|51|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys5407Arg/c.16219T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|62|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys4450Arg/c.13348T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|51|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.4387,0.7147,0.674,0.74,0.83,0.70,,0.023510(N),1.000(P),"-0.89,-0.89,0.23,0.73(T,T,T,T)",0.0000(T),0.063,2.426633,5.14,-5.27,-1.335000,-1.989000,0.546000,0.001000,0.000000,0.001000,3.614
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.His5446Gln/c.16338C>A,caC/caA,MODERATE,COSM3750953(2),0.145367,0.1518,rs61825301,0.29(T),"0.835,0.921(P,D)",1.855(L),-1.0412(T),,chr1,228504591,228504591,C,A,het,"missense_variant(MODERATE|MISSENSE|caC/caA|p.His4489Gln/c.13467C>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|51|1),missense_variant(MODERATE|MISSENSE|caC/caA|p.His5446Gln/c.16338C>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|62|1),missense_variant(MODERATE|MISSENSE|caC/caA|p.His4489Gln/c.13467C>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|51|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.0941,0.2349,0.159,0.16,0.16,0.17,,0.000266(D),1.000(P),"-1.06,-1.06,0.09,0.6(T,T,T,T)",0.0002(T),0.357,1.937450,5.41,0.187,0.550000,-0.223000,-0.722000,0.153000,0.074000,0.000000,9.7878
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ala5472Ala/c.16416G>A,gcG/gcA,LOW,COSM3746840(8),0.145567,0.1518,rs61825302,,,,,,chr1,228504669,228504669,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4515Ala/c.13545G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|51|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala5472Ala/c.16416G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|62|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4515Ala/c.13545G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|51|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.0941,0.2349,0.159,0.14,0.13,0.15,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Arg5491His/c.16472G>A,cGc/cAc,MODERATE,,0.315296,0.499,rs4653942,0.12(T),"0.295,0.706(B,P)",0.875(L),-0.9323(T),,chr1,228505204,228505204,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg4534His/c.13601G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|52|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg5491His/c.16472G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|63|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg4534His/c.13601G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|52|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.1656,0.2954,0.1869,0.25,0.38,0.19,,0.229422(N),1.000(P),"0.37,0.37,0.37,0.37(T,T,T,T)",0.0000(T),0.176,2.120013,4.42,2.36,0.479000,1.099000,1.330000,0.029000,0.007000,0.043000,2.8707
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Ser5599Cys/c.16796C>G,tCt/tGt,MODERATE,,0.699281,0.748,rs1188729,0.11(T),"0.0,0.0(B,B)",0.165(N),-0.9864(T),,chr1,228505668,228505668,C,G,het,"missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser4642Cys/c.13925C>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|53|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser5599Cys/c.16796C>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|64|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser4642Cys/c.13925C>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|53|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.4387,0.7147,0.674,0.75,0.83,0.70,,0.205300(N),1.000(P),"-1.09,-1.09,-1.09,-1.09(T,T,T,T)",0.0000(T),0.11,1.214304,4.51,2.58,-0.360000,0.559000,2.591000,0.157000,0.673000,0.196000,7.9335
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Gly5609Gly/c.16827T>C,ggT/ggC,LOW,,0.705871,0.748,rs1188728,,,,,,chr1,228505699,228505699,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly4652Gly/c.13956T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|53|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly5609Gly/c.16827T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|64|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly4652Gly/c.13956T>C|6620|OBSCN|protein_coding|CODING|NM_052843.3|53|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.4387,0.719,0.674,0.75,0.86,0.70,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Gly5623Ser/c.16867G>A,Ggt/Agt,MODERATE,,0.173123,0.1518,rs3795801,0.84(T),"0.004,0.002(B,B)",0.525(N),-0.9506(T),,chr1,228505739,228505739,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly4666Ser/c.13996G>A|7968|OBSCN|protein_coding|CODING|NM_001098623.2|53|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly5623Ser/c.16867G>A|8923|OBSCN|protein_coding|CODING|NM_001271223.2|64|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly4666Ser/c.13996G>A|6620|OBSCN|protein_coding|CODING|NM_052843.3|53|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0941,0.2435,0.159,0.20,0.24,0.17,,0.794996(N),1.000(P),"-0.06,-0.06,-0.06,-0.06(T,T,T,T)",0.0000(T),0.042,2.235989,4.51,-5.37,-0.565000,-1.559000,0.239000,0.151000,0.000000,0.020000,20.2526
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Asp5919Gly/c.17756A>G,gAc/gGc,MODERATE,,0.684704,0.7044,rs373610,0.42(T),"0.0,0.0(B,B)",0.08(N),-1.0063(T),,chr1,228509427,228509427,A,G,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp4962Gly/c.14885A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|55|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp5919Gly/c.17756A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|66|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp4962Gly/c.14885A>G|6620|OBSCN|protein_coding|CODING|NM_052843.3|55|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.4335,0.6758,0.674,0.74,0.82,0.70,,0.124790(N),1.000(P),"-0.27,-0.27,-0.27,-0.27(T,T,T,T)",0.0000(T),0.073,1.124627,5.34,1.91,-0.119000,0.244000,2.094000,0.006000,0.826000,0.966000,4.77
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ala6631Ala/c.19893C>T,gcC/gcT,LOW,COSM3750959(1),0.117612,0.1091,rs11577699,,,,-1.0170(T),,chr1,228526011,228526011,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala5674Ala/c.17022C>T|7968|OBSCN|protein_coding|CODING|NM_001098623.2|68|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala6631Ala/c.19893C>T|8923|OBSCN|protein_coding|CODING|NM_001271223.2|79|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala5674Ala/c.17022C>T|6620|OBSCN|protein_coding|CODING|NM_052843.3|68|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0767,0.1916,0.1372,0.15,0.14,0.16,,,1.000(P),,0.0001(T),.,0.116119,4.59,-2.15,-1.579000,-1.045000,-0.668000,0.031000,0.000000,0.000000,5.2594
synonymous_variant,OBSCN,SILENT,NM_052843.3:p.Asp6436Asp/c.19308C>T,gaC/gaT,LOW,COSM1473563(1),0.298722,0.2669,rs12035900,,,,,,chr1,228547901,228547901,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp6436Asp/c.19308C>T|6620|OBSCN|protein_coding|CODING|NM_052843.3|81|1),intron_variant(MODIFIER|||c.18662-2376C>T|7968|OBSCN|protein_coding|CODING|NM_001098623.2|79|1),intron_variant(MODIFIER|||c.21533-2376C>T|8923|OBSCN|protein_coding|CODING|NM_001271223.2|90|1)","K562:PolII,HepG2:H3K27me3",,,,0.5419,0.3112,0.328,0.25,0.16,0.30,,,,,,,,,,,,,,,,
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Pro7229Ser/c.21685C>T,Cca/Tca,MODERATE,,0.0443291,0.0952,rs11585049,0.22(T),,0.805(L),-1.1041(T),,chr1,228550429,228550429,C,T,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro6272Ser/c.18814C>T|7968|OBSCN|protein_coding|CODING|NM_001098623.2|80|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro7229Ser/c.21685C>T|8923|OBSCN|protein_coding|CODING|NM_001271223.2|91|1),downstream_gene_variant(MODIFIER||1478||6620|OBSCN|protein_coding|CODING|NM_052843.3||1)","HMEC:H3K27me3,HepG2:H3K27me3",,,,0.0143,0.0591,0.0278,0.04,0.04,0.04,,,1.000(N),-0.14(T),0.0039(T),.,2.208860,4.06,1.05,0.491000,0.125000,0.729000,0.009000,0.000000,0.000000,5.2356
missense_variant,OBSCN,MISSENSE,NM_001271223.2:p.Ala8129Val/c.24386C>T,gCg/gTg,MODERATE,COSM1473567(2),0.589058,0.5625,rs500049,1(T),0.003(B),0.805(L),-0.9484(T),,chr1,228559994,228559994,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala7172Val/c.21515C>T|7968|OBSCN|protein_coding|CODING|NM_001098623.2|94|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala8129Val/c.24386C>T|8923|OBSCN|protein_coding|CODING|NM_001271223.2|105|1)","HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6851,0.389,0.504,0.55,0.66,0.50,,,0.019(P),"-0.02,-0.07(T,T)",0.0000(T),0.216,2.391908,4.63,3.71,-1.164000,0.587000,2.164000,0.035000,0.588000,0.008000,11.6121
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Ser8177Ser/c.24531A>G,tcA/tcG,LOW,COSM4143480(1),0.974241,1,rs498382,,,,-1.0224(T),,chr1,228560139,228560139,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser7220Ser/c.21660A>G|7968|OBSCN|protein_coding|CODING|NM_001098623.2|94|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser8177Ser/c.24531A>G|8923|OBSCN|protein_coding|CODING|NM_001271223.2|105|1)","HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9949,0.964,0.9066,0.94,0.98,0.93,,,0.052(P),,0.0000(T),.,0.600486,4.63,0.296,-2.387000,-0.004000,-3.093000,0.070000,0.692000,0.010000,3.7094
synonymous_variant,OBSCN,SILENT,NM_001271223.2:p.Asp8364Asp/c.25092T>C,gaT/gaC,LOW,COSM1473568(8),0.757987,0.752,rs512253,,,,,,chr1,228560700,228560700,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp7407Asp/c.22221T>C|7968|OBSCN|protein_coding|CODING|NM_001098623.2|94|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp8364Asp/c.25092T>C|8923|OBSCN|protein_coding|CODING|NM_001271223.2|105|1)","K562:Znf263,K562:USF1,K562:Cmyc,NHEK:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.8067,0.6398,0.5636,0.65,0.86,0.55,,,0.024(P),,,.,0.436557,5.31,-7.65,-3.149000,-1.794000,-0.247000,0.009000,0.072000,0.942000,5.4422
synonymous_variant,HIST3H3,SILENT,NM_003493.2:p.Ile63Ile/c.189C>A,atC/atA,LOW,COSM4143485(2),0.690296,0.6895,rs2230656,,,,,,chr1,228612838,228612838,G,T,hom,synonymous_variant(LOW|SILENT|atC/atA|p.Ile63Ile/c.189C>A|136|HIST3H3|protein_coding|CODING|NM_003493.2|1|1),"H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII",,,,0.8558,0.8977,0.8847,0.73,0.42,0.89,,,,,,,,,,,,,,,,
missense_variant,BTNL10,MISSENSE,NM_001287262.1:p.His61Arg/c.182A>G,cAc/cGc,MODERATE,,0.502396,0.4444,rs6665115,0.6(T),,0.025(N),-0.9213(T),,chr1,228699477,228699477,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His61Arg/c.182A>G|208|BTNL10|protein_coding|CODING|NM_001287262.1|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6524,0.6412,0.5905,,,,,,,,0.0000(T),.,0.508442,3.6,-6.04,-0.486000,-0.688000,-1.316000,0.002000,0.000000,0.000000,5.4465
synonymous_variant,RHOU,SILENT,NM_021205.5:p.Ser68Ser/c.204C>T,agC/agT,LOW,COSM3750973(4),0.128994,0.0427,rs3738073,,,,,,chr1,228871693,228871693,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|258|RHOU|protein_coding|CODING|NM_021205.5|1|1),intron_variant(MODIFIER|||n.387-1727C>T||RHOU||CODING|NR_037962.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,IMR90:H3K4me3",,,,0.2515,0.0951,0.172,0.16,0.10,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CCSAP,SILENT,NM_145257.4:p.Pro257Pro/c.771G>A,ccG/ccA,LOW,,0.358826,0.3859,rs2282083,,,,,,chr1,229461024,229461024,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro257Pro/c.771G>A|270|CCSAP|protein_coding|CODING|NM_145257.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3282,0.5101,0.4493,0.37,0.25,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ABCB10,SILENT,NM_012089.2:p.Val384Val/c.1152A>T,gtA/gtT,LOW,,0.000199681,0,rs140358686,,,,,,chr1,229676404,229676404,T,A,het,synonymous_variant(LOW|SILENT|gtA/gtT|p.Val384Val/c.1152A>T|738|ABCB10|protein_coding|CODING|NM_012089.2|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,TAF5L,SILENT,NM_014409.3:p.Ser454Ser/c.1362C>T,agC/agT,LOW,COSM4143493(2),0.303514,0.3254,rs2295625,,,,,,chr1,229730452,229730452,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser454Ser/c.1362C>T|589|TAF5L|protein_coding|CODING|NM_014409.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4284,0.2666,0.4612,0.36,0.15,0.46,,,,,,,,,,,,,,,,
synonymous_variant,TAF5L,SILENT,NM_014409.3:p.Arg248Arg/c.744A>C,cgA/cgC,LOW,COSM4143495(1),0.573682,0.7639,rs3753886,,,,,,chr1,229738170,229738170,T,G,hom,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg248Arg/c.744A>C|325|TAF5L|protein_coding|CODING|NM_001025247.1|4|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg248Arg/c.744A>C|589|TAF5L|protein_coding|CODING|NM_014409.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.5447,0.5179,0.51,0.51,0.51,,,,,,,,,,,,,,,,
synonymous_variant,TAF5L,SILENT,NM_014409.3:p.Pro226Pro/c.678C>T,ccC/ccT,LOW,COSM1339965(1),0.842053,0.9415,rs4925500,,,,,,chr1,229738236,229738236,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro226Pro/c.678C>T|325|TAF5L|protein_coding|CODING|NM_001025247.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro226Pro/c.678C>T|589|TAF5L|protein_coding|CODING|NM_014409.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7914,0.7219,0.7614,0.81,0.92,0.75,,,,,,,,,,,,,,,,
missense_variant,URB2,MISSENSE,NM_014777.2:p.Val778Gly/c.2333T>G,gTc/gGc,MODERATE,,0.571885,0.7649,rs3811473,,0.0(B),-0.345(N),-1.0136(T),,chr1,229772693,229772693,T,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val778Gly/c.2333T>G|1524|URB2|protein_coding|CODING|NM_014777.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.5432,0.5189,0.51,0.50,0.51,,0.877421(N),1.000(P),1.62(T),0.0000(T),0.006,-0.365044,5.32,-2.13,-0.195000,-0.911000,-0.568000,0.428000,0.000000,0.000000,3.4003
missense_variant,URB2,MISSENSE,NM_014777.2:p.Lys858Glu/c.2572A>G,Aaa/Gaa,MODERATE,COSM3997325(1),0.199281,0.4315,rs3811474,,0.032(B),0.895(L),-0.9132(T),,chr1,229772932,229772932,A,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys858Glu/c.2572A>G|1524|URB2|protein_coding|CODING|NM_014777.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0746,0.2421,0.0636,0.11,0.19,0.06,,0.177928(N),1.000(P),1.54(T),0.0000(T),0.091,0.651409,4.95,2.59,0.477000,0.831000,2.475000,0.505000,0.001000,0.017000,2.4527
synonymous_variant,URB2,SILENT,NM_014777.2:p.Thr1027Thr/c.3081C>T,acC/acT,LOW,COSM3997326(1),0.205072,0.4315,rs3811475,,,,,,chr1,229773441,229773441,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1027Thr/c.3081C>T|1524|URB2|protein_coding|CODING|NM_014777.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0746,0.2464,0.0626,0.11,0.21,0.06,,,,,,,,,,,,,,,,
synonymous_variant,URB2,SILENT,NM_014777.2:p.Arg1430Arg/c.4290A>G,agA/agG,LOW,COSM3750980(1),0.604034,0.8502,rs7521953,,,,,,chr1,229790048,229790048,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg1430Arg/c.4290A>G|1524|URB2|protein_coding|CODING|NM_014777.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5654,0.5778,0.5457,0.52,0.52,0.52,,,,,,,,,,,,,,,,
synonymous_variant,GALNT2,SILENT,NM_004481.4:p.Thr286Thr/c.858G>A,acG/acA,LOW,COSM3750982(1),0.110024,0.0942,rs1923950,,,,,,chr1,230384970,230384970,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr248Thr/c.744G>A|533|GALNT2|protein_coding|CODING|NM_001291866.1|9|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr286Thr/c.858G>A|571|GALNT2|protein_coding|CODING|NM_004481.4|9|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0749,0.1511,0.14,0.10,0.16,,,,,,,,,,,,,,,,
synonymous_variant,COG2,SILENT,NM_007357.2:p.Asp338Asp/c.1014T>C,gaT/gaC,LOW,,0.00119808,0,rs113173809,,,,,,chr1,230810858,230810858,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp338Asp/c.1014T>C|737|COG2|protein_coding|CODING|NM_001145036.1|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp338Asp/c.1014T>C|738|COG2|protein_coding|CODING|NM_007357.2|9|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0014,0.002,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,AGT,SILENT,NM_000029.3:p.Leu372Leu/c.1116A>G,ctA/ctG,LOW,,0.972644,1,rs386567962,,,,,,chr1,230841687,230841687,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu372Leu/c.1116A>G|485|AGT|protein_coding|CODING|NM_000029.3|3|1),"GM12878:H3K36me3,HepG2:PolII,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9867,0.951,0.9155,0.94,0.98,0.92,,,,,,,,,,,,,,,,
synonymous_variant,CAPN9,SILENT,NM_006615.2:p.Asn166Asn/c.498C>T,aaC/aaT,LOW,COSM146818(1),0.332867,0.4385,rs2282319,,,,,,chr1,230898494,230898494,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn166Asn/c.498C>T|690|CAPN9|protein_coding|CODING|NM_006615.2|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn166Asn/c.498C>T|664|CAPN9|protein_coding|CODING|NM_016452.1|4|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.1789,0.4452,0.3797,0.34,0.27,0.37,,,,,,,,,,,,,,,,
synonymous_variant,CAPN9,SILENT,NM_006615.2:p.Thr200Thr/c.600T>C,acT/acC,LOW,COSM3997330(2),0.224641,0.1984,rs3828126,,,,,,chr1,230903350,230903350,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr200Thr/c.600T>C|690|CAPN9|protein_coding|CODING|NM_006615.2|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr200Thr/c.600T>C|664|CAPN9|protein_coding|CODING|NM_016452.1|5|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.1258,0.2939,0.337,0.28,0.19,0.33,,,,,,,,,,,,,,,,
synonymous_variant,TTC13,SILENT,NM_024525.4:p.Val834Val/c.2502A>T,gtA/gtT,LOW,,0.515575,0.5446,rs3811502,,,,,,chr1,231042732,231042732,T,A,hom,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val780Val/c.2340A>T|806|TTC13|protein_coding|CODING|NM_001122835.2|21|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val834Val/c.2502A>T|860|TTC13|protein_coding|CODING|NM_024525.4|23|1)","HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4969,0.6556,0.5338,0.48,0.41,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TRIM67,SILENT,NM_001004342.3:p.Asn451Asn/c.1353C>T,aaC/aaT,LOW,,0.00978435,0,rs139376072,,,,,,chr1,231335983,231335983,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn451Asn/c.1353C>T|783|TRIM67|protein_coding|CODING|NM_001004342.3|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn389Asn/c.1167C>T|721|TRIM67|protein_coding|CODING|NM_001300889.1|6|1)","HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,K562:H3K4me1,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0337,0.0072,0.0099,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,C1orf131,MISSENSE,NM_152379.3:p.Leu28Val/c.82C>G,Ctt/Gtt,MODERATE,COSM3997332(1),0.0880591,0.0863,rs2274067,0.03(D),"0.996,0.932,0.996,0.996,0.996(D,D,D,D,D)",2.095(M),-1.1126(T),,chr1,231376806,231376806,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu28Val/c.82C>G|292|C1orf131|protein_coding|CODING|NM_001300830.1|1|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu28Val/c.82C>G|293|C1orf131|protein_coding|CODING|NM_152379.3|1|1),upstream_gene_variant(MODIFIER||113||680|GNPAT|protein_coding|CODING|NM_014236.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,CD4:H2AK9ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:GTF2B,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,CD4:H2BK12ac,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.1084,0.2003,0.0616,0.08,0.05,0.10,,0.020149(N),1.000(P),"2.51,2.51,2.51,2.51(T,T,T,T)",0.0010(T),0.114,3.218801,5.06,3.14,0.650000,0.689000,3.041000,0.012000,0.003000,0.517000,7.914
synonymous_variant,GNPAT,SILENT,NM_014236.3:p.Glu305Glu/c.915G>A,gaG/gaA,LOW,COSM3750988(2),0.628594,0.6339,rs574553,,,,,,chr1,231401902,231401902,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu305Glu/c.915G>A|680|GNPAT|protein_coding|CODING|NM_014236.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6268,0.6254,0.5318,0.59,0.69,0.55,,,,,,,,,,,,,,,,
missense_variant,EGLN1,MISSENSE,NM_022051.2:p.Cys127Ser/c.380G>C,tGt/tCt,MODERATE,COSM4143508(1),0.260383,0.4593,rs12097901,0.73(T),0.0(B),0(N),-1.0586(T),,chr1,231557255,231557255,C,G,hom,missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys127Ser/c.380G>C|426|EGLN1|protein_coding|CODING|NM_022051.2|1|1),"NHEK:H3K9ac,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.2556,0.1239,0.0596,,,,,0.522147(N),1.000(P),-1.95(D),0.0000(T),0.052,-0.769945,3.26,3.26,-0.477000,0.561000,-0.031000,0.010000,0.012000,0.000000,9.5298
missense_variant,DISC1,MISSENSE,NM_001164537.1:p.Arg264Gln/c.791G>A,cGg/cAg,MODERATE,,0.232228,0.2173,rs3738401,0.34(T),"0.001,0.007,0.007,0.007,0.004,0.007,0.007,0.007,0.004,0.007,0.0,0.004,0.001,0.007,0.004,0.002,0.004,0.004,0.004,0.0(B,B,B,B,B,B,B,B,B,B,B,B,B,B,B,B,B,B,B,B)",-0.895(N),-0.9908(T),,chr1,231830295,231830295,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|832|DISC1|protein_coding|CODING|NM_001012957.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|369|DISC1|protein_coding|CODING|NM_001012958.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|678|DISC1|protein_coding|CODING|NM_001012959.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|886|DISC1|protein_coding|CODING|NM_001164537.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|803|DISC1|protein_coding|CODING|NM_001164538.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|755|DISC1|protein_coding|CODING|NM_001164539.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|732|DISC1|protein_coding|CODING|NM_001164540.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|695|DISC1|protein_coding|CODING|NM_001164541.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|681|DISC1|protein_coding|CODING|NM_001164542.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|662|DISC1|protein_coding|CODING|NM_001164544.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|579|DISC1|protein_coding|CODING|NM_001164545.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|559|DISC1|protein_coding|CODING|NM_001164546.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|559|DISC1|protein_coding|CODING|NM_001164547.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|551|DISC1|protein_coding|CODING|NM_001164548.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|547|DISC1|protein_coding|CODING|NM_001164549.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|429|DISC1|protein_coding|CODING|NM_001164550.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|423|DISC1|protein_coding|CODING|NM_001164551.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|387|DISC1|protein_coding|CODING|NM_001164552.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|387|DISC1|protein_coding|CODING|NM_001164553.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|375|DISC1|protein_coding|CODING|NM_001164554.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|356|DISC1|protein_coding|CODING|NM_001164555.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|854|DISC1|protein_coding|CODING|NM_018662.2|2|1),intron_variant(MODIFIER|||c.68-55377G>A|201|DISC1|protein_coding|CODING|NM_001164556.1|1|1),non_coding_exon_variant(MODIFIER|||n.1512G>A||TSNAX-DISC1||NON_CODING|NR_028393.1|6|1),non_coding_exon_variant(MODIFIER|||n.1640G>A||TSNAX-DISC1||NON_CODING|NR_028394.1|7|1),non_coding_exon_variant(MODIFIER|||n.1640G>A||TSNAX-DISC1||NON_CODING|NR_028395.1|7|1),non_coding_exon_variant(MODIFIER|||n.1512G>A||TSNAX-DISC1||NON_CODING|NR_028396.1|6|1),non_coding_exon_variant(MODIFIER|||n.1377G>A||TSNAX-DISC1||NON_CODING|NR_028397.1|6|1),non_coding_exon_variant(MODIFIER|||n.1131G>A||TSNAX-DISC1||NON_CODING|NR_028398.1|4|1),non_coding_exon_variant(MODIFIER|||n.1747G>A||TSNAX-DISC1||NON_CODING|NR_028399.1|8|1),non_coding_exon_variant(MODIFIER|||n.1619G>A||TSNAX-DISC1||NON_CODING|NR_028400.1|7|1)","GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,RCV000084637.1,,0.2219,0.3329,0.339,0.26,0.15,0.32,,0.092507(N),1.000(P),"1.84,1.84,1.84,1.84,1.84,1.84,1.84,1.84,1.84(T,T,T,T,T,T,T,T,T)",0.0000(T),0.042,1.165955,4.94,-9.87,-1.288000,-3.304000,-1.466000,0.001000,0.000000,0.000000,1.7516
synonymous_variant,DISC1,SILENT,NM_001164537.1:p.Ile501Ile/c.1503C>T,atC/atT,LOW,,0.142173,0.1409,rs2492367,,,,,,chr1,231906589,231906589,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|832|DISC1|protein_coding|CODING|NM_001012957.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|678|DISC1|protein_coding|CODING|NM_001012959.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile501Ile/c.1503C>T|886|DISC1|protein_coding|CODING|NM_001164537.1|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|803|DISC1|protein_coding|CODING|NM_001164538.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|755|DISC1|protein_coding|CODING|NM_001164539.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|695|DISC1|protein_coding|CODING|NM_001164541.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|681|DISC1|protein_coding|CODING|NM_001164542.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|662|DISC1|protein_coding|CODING|NM_001164544.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|579|DISC1|protein_coding|CODING|NM_001164545.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|559|DISC1|protein_coding|CODING|NM_001164546.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|559|DISC1|protein_coding|CODING|NM_001164547.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|551|DISC1|protein_coding|CODING|NM_001164548.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile119Ile/c.357C>T|201|DISC1|protein_coding|CODING|NM_001164556.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|854|DISC1|protein_coding|CODING|NM_018662.2|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|547|DISC1|protein_coding|CODING|NM_001164549.1|6|1),intron_variant(MODIFIER|||c.1268+20767C>T|732|DISC1|protein_coding|CODING|NM_001164540.1|4|1),non_coding_exon_variant(MODIFIER|||n.2128C>T||TSNAX-DISC1||NON_CODING|NR_028393.1|10|1),non_coding_exon_variant(MODIFIER|||n.2256C>T||TSNAX-DISC1||NON_CODING|NR_028394.1|11|1),non_coding_exon_variant(MODIFIER|||n.2256C>T||TSNAX-DISC1||NON_CODING|NR_028395.1|11|1),non_coding_exon_variant(MODIFIER|||n.2128C>T||TSNAX-DISC1||NON_CODING|NR_028396.1|10|1),non_coding_exon_variant(MODIFIER|||n.1993C>T||TSNAX-DISC1||NON_CODING|NR_028397.1|10|1),non_coding_exon_variant(MODIFIER|||n.1747C>T||TSNAX-DISC1||NON_CODING|NR_028398.1|8|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.1329,0.0663,0.1103,0.14,0.20,0.12,,,,,,,,,,,,,,,,
missense_variant,DISC1,MISSENSE,NM_001164537.1:p.Ser736Cys/c.2206A>T,Agc/Tgc,MODERATE,COSM3750992(1),0.2502,0.1052,rs821616,,0.948(D),,-0.9394(T),,chr1,232144598,232144598,A,T,het,"missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser704Cys/c.2110A>T|832|DISC1|protein_coding|CODING|NM_001012957.1|11|1),missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser736Cys/c.2206A>T|886|DISC1|protein_coding|CODING|NM_001164537.1|12|1),missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser582Cys/c.1744A>T|732|DISC1|protein_coding|CODING|NM_001164540.1|9|1),missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser704Cys/c.2110A>T|854|DISC1|protein_coding|CODING|NM_018662.2|11|1),missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser704Cys/c.2110A>T|803|DISC1|protein_coding|CODING|NM_001164538.1|11|1),missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg683Ser/c.2049A>T|695|DISC1|protein_coding|CODING|NM_001164541.1|10|1),3_prime_UTR_variant(MODIFIER||49979|c.*83A>T|559|DISC1|protein_coding|CODING|NM_001164547.1|8|1),non_coding_exon_variant(MODIFIER|||n.2776A>T||TSNAX-DISC1||NON_CODING|NR_028393.1|14|1)",,,,,0.2689,0.1369,0.2873,0.30,0.33,0.29,,,0.996(P),2.8(T),0.0000(T),0.083,2.976831,4.72,2.37,0.528000,0.839000,2.731000,0.628000,0.206000,1.000000,4.8096
missense_variant,DISC1,MISSENSE,NM_001164538.1:p.Lys800Arg/c.2399A>G,aAg/aGg,MODERATE,COSM3750993(1),0.249601,0.1052,rs821617,,,0(N),-0.9065(T),,chr1,232144887,232144887,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys800Arg/c.2399A>G|803|DISC1|protein_coding|CODING|NM_001164538.1|11|1),3_prime_UTR_variant(MODIFIER||50268|c.*372A>G|559|DISC1|protein_coding|CODING|NM_001164547.1|8|1),3_prime_UTR_variant(MODIFIER||250|c.*250A>G|695|DISC1|protein_coding|CODING|NM_001164541.1|10|1),intron_variant(MODIFIER|||c.2241+158A>G|832|DISC1|protein_coding|CODING|NM_001012957.1|11|1),intron_variant(MODIFIER|||c.2403+92A>G|886|DISC1|protein_coding|CODING|NM_001164537.1|12|1),intron_variant(MODIFIER|||c.1941+92A>G|732|DISC1|protein_coding|CODING|NM_001164540.1|9|1),intron_variant(MODIFIER|||c.2307+92A>G|854|DISC1|protein_coding|CODING|NM_018662.2|11|1),intron_variant(MODIFIER|||n.2973+92A>G||TSNAX-DISC1||NON_CODING|NR_028393.1|14|1)",HepG2:H3K36me3,,,,0.2689,0.1369,0.2853,0.31,0.37,0.28,,,1.000(P),,0.0000(T),.,0.847445,4.42,1.54,-0.128000,0.004000,0.025000,0.098000,0.000000,0.000000,6.6707
missense_variant,SIPA1L2,MISSENSE,NM_020808.3:p.Met1424Leu/c.4270A>T,Atg/Ttg,MODERATE,COSM3746859(1),0.0938498,0.003,rs3210731,0.36(T),"0.0,0.0(B,B)",0.69(N),-0.9981(T),,chr1,232564297,232564297,T,A,hom,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met1424Leu/c.4270A>T|1722|SIPA1L2|protein_coding|CODING|NM_020808.3|15|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1033,0.1801,0.1909,0.15,0.07,0.19,,0.092929(N),0.976(P),"1.6,1.6,1.6(T,T,T)",0.0001(T),0.058,1.743600,5.86,2.18,0.533000,0.114000,0.529000,0.789000,0.962000,0.624000,2.2509
missense_variant,SIPA1L2,MISSENSE,NM_020808.3:p.Thr1322Ala/c.3964A>G,Acc/Gcc,MODERATE,,0.352236,0.4643,rs2275307,1(T),"0.0,0.0(B,B)",-1.245(N),-1.0382(T),,chr1,232574921,232574921,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1322Ala/c.3964A>G|1722|SIPA1L2|protein_coding|CODING|NM_020808.3|13|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.318,0.3473,0.2008,0.27,0.39,0.22,,0.442752(N),1.000(P),"-1.06,-1.06,2.89(T,T,T)",0.0000(T),0.025,-1.930233,5.16,-1.91,-0.213000,-0.905000,1.127000,0.037000,0.000000,0.487000,7.3522
synonymous_variant,SIPA1L2,SILENT,NM_020808.3:p.Thr1064Thr/c.3192C>T,acC/acT,LOW,COSM3746861(1),0.0892572,0.001,rs12757779,,,,,,chr1,232581436,232581436,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1064Thr/c.3192C>T|1722|SIPA1L2|protein_coding|CODING|NM_020808.3|9|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0951,0.1657,0.1889,0.16,0.07,0.21,,,,,,,,,,,,,,,,
synonymous_variant,SIPA1L2,SILENT,NM_020808.3:p.Ser112Ser/c.336T>C,tcT/tcC,LOW,COSM3997337(2),0.835064,0.504,rs3795366,,,,,,chr1,232650750,232650750,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser112Ser/c.336T>C|1722|SIPA1L2|protein_coding|CODING|NM_020808.3|1|1),"HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.8446,0.8429,0.9463,0.95,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,SIPA1L2,SILENT,NM_020808.3:p.Lys73Lys/c.219G>A,aaG/aaA,LOW,COSM3746863(3),0.555511,0.3333,rs4649383,,,,,,chr1,232650867,232650867,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys73Lys/c.219G>A|1722|SIPA1L2|protein_coding|CODING|NM_020808.3|1|1),"HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.6135,0.6369,0.7952,0.71,0.51,0.80,,,,,,,,,,,,,,,,
synonymous_variant,MAP10,SILENT,NM_019090.2:p.Phe128Phe/c.384C>T,ttC/ttT,LOW,COSM4143521(1),0.527356,0.6607,rs12409898,,,,,,chr1,232941153,232941153,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe128Phe/c.384C>T|1047|MAP10|protein_coding|CODING|NM_019090.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,GM12878:ZBTB33,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,GM12878:TAF1,GM12878:PolII,K562:Yy1,CD4:H3K4ac,CD4:PolII,NHEK:H3K4me2,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.7587,0.5879,0.7097,0.53,0.19,0.69,,,,,,,,,,,,,,,,
synonymous_variant,MAP10,SILENT,NM_019090.2:p.Leu195Leu/c.585G>T,ctG/ctT,LOW,COSM3749040(4),0.122404,0.1726,rs12567597,,,,,,chr1,232941354,232941354,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu195Leu/c.585G>T|1047|MAP10|protein_coding|CODING|NM_019090.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:E2F6,H1ESC:Yy1,GM12878:TAF1,GM12878:PolII,K562:Yy1,CD4:H3K4ac,CD4:PolII,NHEK:H3K4me2,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.0787,0.1412,0.0964,0.10,0.10,0.10,,,,,,,,,,,,,,,,
missense_variant,PCNXL2,MISSENSE,NM_014801.3:p.Arg1984Gln/c.5951G>A,cGg/cAg,MODERATE,COSM425603(2),0.172324,0.1667,rs41309639,1(T),"0.002,0.005(B,B)",0.255(N),-0.9560(T),,chr1,233122127,233122127,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1984Gln/c.5951G>A|2137|PCNXL2|protein_coding|CODING|NM_014801.3|33|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1227,0.1254,0.2008,0.23,0.23,0.24,,0.005850(N),0.000(P),"2.12,3.33(T,T)",0.0000(T),0.052,-0.562604,5.85,1.57,-0.258000,0.318000,1.388000,0.110000,0.999000,1.000000,3.1769
missense_variant,PCNXL2,MISSENSE,NM_014801.3:p.Ser1901Asn/c.5702G>A,aGt/aAt,MODERATE,COSM3751001(1),0.183506,0.12,rs56231757,0.13(T),"0.002,0.004(B,B)",0.92(L),-1.0025(T),,chr1,233134086,233134086,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1901Asn/c.5702G>A|2137|PCNXL2|protein_coding|CODING|NM_014801.3|32|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.1339,0.1657,0.2147,0.24,0.25,0.23,,0.735589(N),0.987(P),"1.89,3.06(T,T)",0.0000(T),0.032,2.402301,5.71,3.82,0.563000,0.757000,1.895000,0.119000,0.009000,0.003000,9.345
synonymous_variant,PCNXL2,SILENT,NM_014801.3:p.Thr1345Thr/c.4035A>G,acA/acG,LOW,,0.133586,0,rs12059884,,,,,,chr1,233225848,233225848,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1345Thr/c.4035A>G|2137|PCNXL2|protein_coding|CODING|NM_014801.3|23|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0245,0.1066,0.1014,0.18,0.29,0.12,,,,,,,,,,,,,,,,
missense_variant,PCNXL2,MISSENSE,NM_014801.3:p.Arg117Lys/c.350G>A,aGa/aAa,MODERATE,,0.276957,0.1647,rs1033325,0.42(T),0.0(B),0.115(N),-0.9890(T),,chr1,233398713,233398713,C,T,het,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg117Lys/c.350G>A|2137|PCNXL2|protein_coding|CODING|NM_014801.3|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.455,0.2291,0.3429,0.30,0.23,0.33,,,1.000(P),0.01(T),0.0000(T),0.015,-1.070678,5.09,2.71,-0.254000,0.416000,1.031000,0.009000,0.007000,0.913000,1.353
missense_variant,KIAA1804,MISSENSE,NM_032435.2:p.Val728Ile/c.2182G>A,Gtc/Atc,MODERATE,COSM146826(2),0.261182,0.3433,rs3795375,0.15(T),"0.254,0.109(B,B)",1.15(L),-1.0069(T),,chr1,233514934,233514934,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val728Ile/c.2182G>A|1036|KIAA1804|protein_coding|CODING|NM_032435.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.3139,0.3415,0.172,0.18,0.18,0.18,,0.681408(N),1.000(P),"1.57,1.57(T,T)",0.0000(T),0.034,1.032541,4.94,-3.12,-0.145000,-0.887000,0.129000,0.113000,0.000000,0.000000,11.0154
missense_variant,KIAA1804,MISSENSE,NM_032435.2:p.Glu741Asp/c.2223G>T,gaG/gaT,MODERATE,COSM146827(2),0.276558,0.3442,rs3795374,0.03(D),"0.975,0.066(D,B)",1.385(L),-1.0085(T),,chr1,233514975,233514975,G,T,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu741Asp/c.2223G>T|1036|KIAA1804|protein_coding|CODING|NM_032435.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.3139,0.3444,0.173,0.20,0.23,0.18,,0.000013(D),0.000(P),"1.31,1.31(T,T)",0.0000(T),0.054,2.117899,4.85,1.71,0.650000,0.627000,1.010000,0.507000,0.413000,1.000000,8.5793
synonymous_variant,KIAA1804,SILENT,NM_032435.2:p.Ser773Ser/c.2319C>T,agC/agT,LOW,COSM4143524(1),0.276757,0.3433,rs963982,,,,,,chr1,233515071,233515071,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser773Ser/c.2319C>T|1036|KIAA1804|protein_coding|CODING|NM_032435.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.3139,0.3444,0.174,0.20,0.23,0.18,,,,,,,,,,,,,,,,
missense_variant,KIAA1804,MISSENSE,NM_032435.2:p.Cys784Gly/c.2350T>G,Tgt/Ggt,MODERATE,,0.276358,0.3433,rs963981,0.61(T),"0.0,0.0(B,B)",-1.355(N),-1.0449(T),,chr1,233515102,233515102,T,G,het,missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys784Gly/c.2350T>G|1036|KIAA1804|protein_coding|CODING|NM_032435.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.3139,0.3444,0.173,0.20,0.23,0.18,,0.929050(N),1.000(P),"-0.74,3.34(T,T)",0.0000(T),0.011,-0.302961,4.49,1.18,-0.764000,-0.164000,0.411000,0.001000,0.000000,0.030000,0.6602
synonymous_variant,KIAA1804,SILENT,NM_032435.2:p.Pro887Pro/c.2661G>A,ccG/ccA,LOW,COSM3751004(1),0.21865,0.3294,rs1402815,,,,,,chr1,233515413,233515413,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro887Pro/c.2661G>A|1036|KIAA1804|protein_coding|CODING|NM_032435.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.2904,0.1599,0.3469,0.25,0.07,0.34,,,,,,,,,,,,,,,,
synonymous_variant,SLC35F3,SILENT,NM_173508.3:p.Pro67Pro/c.201G>C,ccG/ccC,LOW,COSM3723590(3),0.450679,0.4474,rs57010808,,,,,,chr1,234041422,234041422,G,C,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro67Pro/c.201G>C|490|SLC35F3|protein_coding|CODING|NM_173508.3|2|1),"NHEK:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,K562:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.544,0.3127,0.4742,0.50,0.45,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TARBP1,SILENT,NM_005646.3:p.Ala1425Ala/c.4275G>A,gcG/gcA,LOW,COSM3997343(1),0.509984,0.495,rs2175594,,,,,,chr1,234529552,234529552,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1425Ala/c.4275G>A|1621|TARBP1|protein_coding|CODING|NM_005646.3|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4049,0.5692,0.4384,0.49,0.59,0.43,,,,,,,,,,,,,,,,
synonymous_variant,TARBP1,SILENT,NM_005646.3:p.Val1419Val/c.4257C>T,gtC/gtT,LOW,COSM3751006(2),0.503994,0.494,rs2175593,,,,,,chr1,234529570,234529570,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1419Val/c.4257C>T|1621|TARBP1|protein_coding|CODING|NM_005646.3|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3998,0.5677,0.4334,0.47,0.57,0.43,,,,,,,,,,,,,,,,
synonymous_variant,TARBP1,SILENT,NM_005646.3:p.Thr1246Thr/c.3738G>A,acG/acA,LOW,COSM3751007(3),0.337061,0.3958,rs1141264,,,,,,chr1,234546245,234546245,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1246Thr/c.3738G>A|1621|TARBP1|protein_coding|CODING|NM_005646.3|23|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3579,0.3847,0.3907,0.34,0.24,0.39,,,,,,,,,,,,,,,,
missense_variant,TARBP1,MISSENSE,NM_005646.3:p.Ser392Thr/c.1174T>A,Tcc/Acc,MODERATE,COSM3997347(2),0.167931,0.2609,rs60079444,0.58(T),0.0(B),-1.245(N),-0.9373(T),,chr1,234603322,234603322,A,T,het,missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser392Thr/c.1174T>A|1621|TARBP1|protein_coding|CODING|NM_005646.3|4|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2689,0.2147,0.0358,0.06,0.09,0.04,,0.004349(N),1.000(P),3.55(T),0.0000(T),0.023,-0.373788,5.07,2.75,-0.286000,0.149000,1.501000,0.989000,0.997000,1.000000,4.4288
synonymous_variant,TARBP1,SILENT,NM_005646.3:p.His345His/c.1035T>C,caT/caC,LOW,COSM4143533(1),0.29393,0.749,rs3754307,,,,,,chr1,234606998,234606998,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His345His/c.1035T>C|1621|TARBP1|protein_coding|CODING|NM_005646.3|3|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3476,0.2522,0.0487,0.07,0.11,0.05,,,,,,,,,,,,,,,,
synonymous_variant,IRF2BP2,SILENT,NM_182972.2:p.Ala276Ala/c.828G>T,gcG/gcT,LOW,COSM1748234(5),0.260783,0.2083,rs4636,,,,,,chr1,234744413,234744413,C,A,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala276Ala/c.828G>T|587|IRF2BP2|protein_coding|CODING|NM_182972.2|1|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala276Ala/c.828G>T|571|IRF2BP2|protein_coding|CODING|NM_001077397.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.2658,0.2896,0.4185,0.28,0.16,0.34,,,,,,,,,,,,,,,,
missense_variant,IRF2BP2,MISSENSE,NM_182972.2:p.Ser78Pro/c.232T>C,Tcg/Ccg,MODERATE,COSM4143537(1),0.603834,0.2679,rs7545855,0.8(T),"0.0,0.0(B,B)",0(N),-0.9955(T),,chr1,234745009,234745009,A,G,het,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser78Pro/c.232T>C|587|IRF2BP2|protein_coding|CODING|NM_182972.2|1|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser78Pro/c.232T>C|571|IRF2BP2|protein_coding|CODING|NM_001077397.1|1|1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,GM06990:H3K36me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,GM12878:Sin3Ak20",,,,0.4509,0.549,0.7734,,,,,0.612909(N),1.000(P),"1.49,1.51(T,T)",0.0000(T),0.082,-2.470482,2.56,0.223,-0.817000,-0.115000,0.684000,0.004000,0.000000,0.056000,4.7903
synonymous_variant,ARID4B,SILENT,NM_001206794.1:p.Ala959Ala/c.2877C>T,gcC/gcT,LOW,,0.00978435,0,rs61730875,,,,-1.0548(T),,chr1,235345357,235345357,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala959Ala/c.2877C>T|1312|ARID4B|protein_coding|CODING|NM_001206794.1|20|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala959Ala/c.2877C>T|1312|ARID4B|protein_coding|CODING|NM_016374.5|20|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala873Ala/c.2619C>T|1226|ARID4B|protein_coding|CODING|NM_031371.3|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0216,0.0219,0.02,0.01,0.03,,,1.000(D),,0.0567(T),.,-1.651943,5.1,3.16,0.585000,0.684000,1.130000,0.051000,0.999000,1.000000,4.3458
synonymous_variant,B3GALNT2,SILENT,NM_152490.4:p.Glu107Glu/c.321A>G,gaA/gaG,LOW,COSM4143540(1),0.678714,0.8413,rs291396,,,,,,chr1,235652513,235652513,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu148Glu/c.444A>G|326|B3GALNT2|protein_coding|CODING|NM_001277155.2|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu107Glu/c.321A>G|500|B3GALNT2|protein_coding|CODING|NM_152490.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7791,0.7104,0.5139,0.52,0.56,0.50,,,,,,,,,,,,,,,,
synonymous_variant,LYST,SILENT,NM_000081.3:p.Lys1791Lys/c.5373G>A,aaG/aaA,LOW,COSM3746866(1),0.300919,0.0655,rs2273584,,,,,,chr1,235940450,235940450,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1791Lys/c.5373G>A|3801|LYST|protein_coding|CODING|NM_000081.3|17|1),NHEK:H3K36me3,,,,0.1646,0.2997,0.4254,0.44,0.51,0.40,,,,,,,,,,,,,,,,
synonymous_variant,LYST,SILENT,NM_000081.3:p.Leu1652Leu/c.4956A>G,ttA/ttG,LOW,COSM3746867(1),0.303514,0.0655,rs6696123,,,,,,chr1,235945294,235945294,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1652Leu/c.4956A>G|3801|LYST|protein_coding|CODING|NM_000081.3|15|1),"HUVEC:DNase1,NHEK:H3K36me3",,,,0.1769,0.2997,0.4254,0.44,0.51,0.40,,,,,,,,,,,,,,,,
synonymous_variant,LYST,SILENT,NM_000081.3:p.Asn1464Asn/c.4392C>T,aaC/aaT,LOW,,0.0642971,0.0407,rs11583387,,,,,,chr1,235955150,235955150,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1464Asn/c.4392C>T|3801|LYST|protein_coding|CODING|NM_000081.3|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0879,0.1272,0.10,0.07,0.11,,,,,,,,,,,,,,,,
synonymous_variant,LYST,SILENT,NM_000081.3:p.Leu785Leu/c.2355T>C,ctT/ctC,LOW,,0.0706869,0.0407,rs3768066,,,,,,chr1,235971763,235971763,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu785Leu/c.2355T>C|3801|LYST|protein_coding|CODING|NM_000081.3|5|1),NHEK:H3K36me3,,,,0.0235,0.0965,0.1481,0.12,0.08,0.14,,,,,,,,,,,,,,,,
missense_variant,LYST,MISSENSE,NM_000081.3:p.Gln562His/c.1686G>C,caG/caC,MODERATE,,0.00119808,0,rs77091385,0.06(T),"0.526,0.429(P,B)",1.59(L),-0.7106(T),,chr1,235972432,235972432,C,G,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln562His/c.1686G>C|3801|LYST|protein_coding|CODING|NM_000081.3|5|1),"GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.003,0.00,0.00,0.00,,0.013461(N),0.967(D),"-0.34,-0.34,1.12(T,T,T)",0.1882(T),0.266,2.164358,5.6,-0.369,0.650000,0.023000,-0.003000,0.484000,0.647000,0.875000,10.5732
synonymous_variant,LYST,SILENT,NM_000081.3:p.Leu561Leu/c.1683A>G,ctA/ctG,LOW,COSM3746868(1),0.302716,0.0665,rs3820553,,,,,,chr1,235972435,235972435,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu561Leu/c.1683A>G|3801|LYST|protein_coding|CODING|NM_000081.3|5|1),"GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1748,0.2983,0.4235,0.44,0.51,0.40,,,,,,,,,,,,,,,,
synonymous_variant,LYST,SILENT,NM_000081.3:p.Gln417Gln/c.1251A>G,caA/caG,LOW,COSM3746869(1),0.303315,0.0655,rs1063128,,,,,,chr1,235972867,235972867,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln417Gln/c.1251A>G|3801|LYST|protein_coding|CODING|NM_000081.3|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1748,0.2997,0.4254,0.44,0.51,0.40,,,,,,,,,,,,,,,,
synonymous_variant,NID1,SILENT,NM_002508.2:p.Val803Val/c.2409A>G,gtA/gtG,LOW,COSM3746870(2),0.696685,0.7698,rs2031487,,,,,,chr1,236175339,236175339,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val803Val/c.2409A>G|1247|NID1|protein_coding|CODING|NM_002508.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.729,0.6427,0.5,0.59,0.76,0.50,,,,,,,,,,,,,,,,
splice_donor_variant,NID1,protein_coding,NM_002508.2:c.226G>T,,HIGH,,,,,,,,,NID1:1.00(1);,chr1,236228154,236228154,C,A,het,"splice_donor_variant(HIGH|||c.226G>T|1247|NID1|protein_coding|CODING|NM_002508.2|1|1),intron_variant(MODIFIER|||c.225+1G>T|1247|NID1|protein_coding|CODING|NM_002508.2|1|1)","HepG2:H3K4me2,HSMM:H2AZ,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HMEC:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,,1.000(D),,,.,2.312359,4.28,4.28,0.313000,2.071000,3.703000,0.289000,1.000000,1.000000,13.9752
missense_variant,ERO1LB,MISSENSE,NM_019891.3:p.Asp129Val/c.386A>T,gAt/gTt,MODERATE,COSM3751015(1),0.335463,0.1329,rs2477599,0.05(D),"0.491,0.042(P,B)",1.59(L),-0.8896(T),,chr1,236413230,236413230,T,A,hom,missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp129Val/c.386A>T|467|ERO1LB|protein_coding|CODING|NM_019891.3|5|1),,,,,0.5204,0.3646,0.6014,0.46,0.19,0.60,,0.000135(D),0.000(P),"-1.59,0.88,-1.59(D,T,D)",0.0000(T),0.612,3.236060,5.85,4.72,-0.475000,1.025000,4.282000,0.980000,0.809000,1.000000,11.2036
missense_variant,EDARADD,MISSENSE,NM_145861.2:p.Met9Ile/c.27G>A,atG/atA,MODERATE,COSM3746871(1),0.776757,0.9187,rs966365,0.33(T),0.0(B),1.87(L),-0.9911(T),,chr1,236557771,236557771,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met9Ile/c.27G>A|215|EDARADD|protein_coding|CODING|NM_145861.2|1|1),upstream_gene_variant(MODIFIER||945||205|EDARADD|protein_coding|CODING|NM_080738.3||1)","NHEK:H3K27ac,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K4me2,GM12878:EBF,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.9366,0.8631,0.825,0.74,0.54,0.84,,0.682954(U),1.000(P),-0.73(T),0.0000(T),0.061,1.709715,4.52,1.33,-0.157000,0.485000,-0.083000,0.007000,0.039000,0.000000,3.1466
missense_variant,LGALS8,MISSENSE,NM_006499.4:p.Phe19Tyr/c.56T>A,tTt/tAt,MODERATE,COSM146350(4),0.4998,0.4762,rs1126407,1(T),"0.002,0.013,0.008(B,B,B)",-0.23(N),-0.9819(T),,chr1,236700807,236700807,T,A,het,"missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe19Tyr/c.56T>A|359|LGALS8|protein_coding|CODING|NM_006499.4|4|1),missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe19Tyr/c.56T>A|317|LGALS8|protein_coding|CODING|NM_201543.2|4|1),missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe19Tyr/c.56T>A|317|LGALS8|protein_coding|CODING|NM_201544.2|3|1),missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe19Tyr/c.56T>A|359|LGALS8|protein_coding|CODING|NM_201545.2|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5072,0.6759,0.62,0.49,0.68,,0.000037(N),1.000(P),"2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74,2.74(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.221,-0.023463,5.45,5.45,-0.336000,1.088000,1.617000,0.603000,1.000000,1.000000,10.5908
synonymous_variant,LGALS8,SILENT,NM_006499.4:p.Pro24Pro/c.72T>C,ccT/ccC,LOW,COSM146830(3),0.5,0.4762,rs1041934,,,,,,chr1,236700823,236700823,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro24Pro/c.72T>C|359|LGALS8|protein_coding|CODING|NM_006499.4|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro24Pro/c.72T>C|317|LGALS8|protein_coding|CODING|NM_201543.2|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro24Pro/c.72T>C|317|LGALS8|protein_coding|CODING|NM_201544.2|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro24Pro/c.72T>C|359|LGALS8|protein_coding|CODING|NM_201545.2|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5072,0.6759,0.62,0.49,0.68,,,,,,,,,,,,,,,,
missense_variant,LGALS8,MISSENSE,NM_006499.4:p.Arg36Cys/c.106C>T,Cgt/Tgt,MODERATE,COSM146351(5),0.5,0.4762,rs1041935,0.08(T),"0.018,0.065,0.005(B,B,B)",2.415(M),-1.0132(T),,chr1,236700857,236700857,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg36Cys/c.106C>T|359|LGALS8|protein_coding|CODING|NM_006499.4|4|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg36Cys/c.106C>T|317|LGALS8|protein_coding|CODING|NM_201543.2|4|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg36Cys/c.106C>T|317|LGALS8|protein_coding|CODING|NM_201544.2|3|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg36Cys/c.106C>T|359|LGALS8|protein_coding|CODING|NM_201545.2|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5072,0.6759,0.62,0.49,0.68,,0.000006(D),0.000(P),"3.36,3.36,3.36,3.36,3.36,3.36,3.36,2.74,3.36,3.36,3.36,3.36,3.36,2.74,3.36,3.36(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.359,3.163472,5.45,5.45,0.591000,2.837000,7.146000,0.362000,0.972000,1.000000,19.4714
synonymous_variant,LGALS8,SILENT,NM_006499.4:p.Ser55Ser/c.165C>T,agC/agT,LOW,COSM146831(4),0.417133,0.4732,rs1041936,,,,,,chr1,236702209,236702209,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser55Ser/c.165C>T|359|LGALS8|protein_coding|CODING|NM_006499.4|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser55Ser/c.165C>T|317|LGALS8|protein_coding|CODING|NM_201543.2|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser55Ser/c.165C>T|317|LGALS8|protein_coding|CODING|NM_201544.2|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser55Ser/c.165C>T|359|LGALS8|protein_coding|CODING|NM_201545.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3988,0.464,0.6014,0.48,0.28,0.58,,,,,,,,,,,,,,,,
missense_variant,LGALS8,MISSENSE,NM_006499.4:p.Met56Val/c.166A>G,Atg/Gtg,MODERATE,COSM146352(4),0.630391,0.6577,rs1041937,1(T),"0.0,0.001,0.0(B,B,B)",-0.81(N),-0.9929(T),,chr1,236702210,236702210,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met56Val/c.166A>G|359|LGALS8|protein_coding|CODING|NM_006499.4|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met56Val/c.166A>G|317|LGALS8|protein_coding|CODING|NM_201543.2|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met56Val/c.166A>G|317|LGALS8|protein_coding|CODING|NM_201544.2|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met56Val/c.166A>G|359|LGALS8|protein_coding|CODING|NM_201545.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4775,0.6311,0.7048,0.70,0.68,0.71,,0.616722(N),0.000(P),"3.53,3.53,3.53,3.53,3.53,3.53,3.53,3.53,3.53,3.53,3.53,3.53,3.53,3.53(T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.231,-0.470962,5.01,1.99,-0.119000,0.014000,-0.006000,0.987000,0.635000,0.000000,4.361
synonymous_variant,LGALS8,SILENT,NM_006499.4:p.Leu110Leu/c.330G>A,ctG/ctA,LOW,COSM3751017(3),0.433307,0.4752,rs2472126,,,,,,chr1,236702374,236702374,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu110Leu/c.330G>A|359|LGALS8|protein_coding|CODING|NM_006499.4|5|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu110Leu/c.330G>A|317|LGALS8|protein_coding|CODING|NM_201543.2|5|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu110Leu/c.330G>A|317|LGALS8|protein_coding|CODING|NM_201544.2|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu110Leu/c.330G>A|359|LGALS8|protein_coding|CODING|NM_201545.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3947,0.464,0.6173,0.57,0.41,0.65,,,,,,,,,,,,,,,,
missense_variant,LGALS8,MISSENSE,NM_006499.4:p.Arg226Ser/c.678G>C,agG/agC,MODERATE,,0.677716,0.6865,rs2243525,0.49(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0445(T),,chr1,236706862,236706862,G,C,het,"missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg226Ser/c.678G>C|359|LGALS8|protein_coding|CODING|NM_006499.4|10|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg184Ser/c.552G>C|317|LGALS8|protein_coding|CODING|NM_201543.2|9|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg184Ser/c.552G>C|317|LGALS8|protein_coding|CODING|NM_201544.2|8|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg226Ser/c.678G>C|359|LGALS8|protein_coding|CODING|NM_201545.2|10|1),splice_region_variant(LOW|||c.678G>C|359|LGALS8|protein_coding|CODING|NM_006499.4|10|1),splice_region_variant(LOW|||c.552G>C|317|LGALS8|protein_coding|CODING|NM_201543.2|9|1),splice_region_variant(LOW|||c.552G>C|317|LGALS8|protein_coding|CODING|NM_201544.2|8|1),splice_region_variant(LOW|||c.678G>C|359|LGALS8|protein_coding|CODING|NM_201545.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5143,0.7622,0.7396,0.74,0.72,0.75,,0.023283(N),1.000(P),"2.83,2.83,2.83,2.83,2.83,2.83,2.83,2.83,2.83,2.83,2.83(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.137,-0.352950,4.88,-2.97,-0.120000,-0.559000,-1.636000,0.424000,0.936000,0.000000,2.2819
synonymous_variant,LGALS8,SILENT,NM_006499.4:p.Tyr314Tyr/c.942T>C,taT/taC,LOW,COSM3997354(2),0.500399,0.4772,rs15701,,,,,,chr1,236711323,236711323,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr314Tyr/c.942T>C|359|LGALS8|protein_coding|CODING|NM_006499.4|12|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr272Tyr/c.816T>C|317|LGALS8|protein_coding|CODING|NM_201543.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr272Tyr/c.816T>C|317|LGALS8|protein_coding|CODING|NM_201544.2|10|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr314Tyr/c.942T>C|359|LGALS8|protein_coding|CODING|NM_201545.2|12|1),downstream_gene_variant(MODIFIER||982||2144|HEATR1|protein_coding|CODING|NM_018072.5||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5101,0.6759,0.62,0.49,0.68,,,,,,,,,,,,,,,,
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Ser2053Ser/c.6159G>A,tcG/tcA,LOW,COSM146832(4),0.484625,0.4772,rs2275685,,,,,,chr1,236716959,236716959,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser2053Ser/c.6159G>A|2144|HEATR1|protein_coding|CODING|NM_018072.5|43|1),downstream_gene_variant(MODIFIER||680||359|LGALS8|protein_coding|CODING|NM_006499.4||1),downstream_gene_variant(MODIFIER||680||317|LGALS8|protein_coding|CODING|NM_201543.2||1),downstream_gene_variant(MODIFIER||680||317|LGALS8|protein_coding|CODING|NM_201544.2||1),downstream_gene_variant(MODIFIER||680||359|LGALS8|protein_coding|CODING|NM_201545.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5072,0.6759,0.60,0.44,0.68,,,,,,,,,,,,,,,,
missense_variant,HEATR1,MISSENSE,NM_018072.5:p.Glu2017Gly/c.6050A>G,gAa/gGa,MODERATE,COSM3751018(3),0.484824,0.4772,rs2275687,0.23(T),"0.0,0.873(B,P)",2.26(M),-0.8547(T),,chr1,236717926,236717926,T,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu2017Gly/c.6050A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|42|1),downstream_gene_variant(MODIFIER||1647||359|LGALS8|protein_coding|CODING|NM_006499.4||1),downstream_gene_variant(MODIFIER||1647||317|LGALS8|protein_coding|CODING|NM_201543.2||1),downstream_gene_variant(MODIFIER||1647||317|LGALS8|protein_coding|CODING|NM_201544.2||1),downstream_gene_variant(MODIFIER||1647||359|LGALS8|protein_coding|CODING|NM_201545.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5086,0.6759,0.60,0.44,0.68,,0.000001(D),0.000(P),"-0.29,-0.29(T,T)",0.0000(T),0.298,3.565349,5.65,5.65,0.533000,2.371000,7.298000,0.988000,1.000000,1.000000,16.0399
missense_variant,HEATR1,MISSENSE,NM_018072.5:p.Asn1967Asp/c.5899A>G,Aac/Gac,MODERATE,COSM3751019(3),0.484824,0.4782,rs1126627,0.21(T),"0.001,0.115(B,B)",0.55(N),-1.0182(T),,chr1,236718620,236718620,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1967Asp/c.5899A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|41|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5086,0.6759,0.60,0.44,0.68,,0.000014(D),0.000(P),"0.99,0.99(T,T)",0.0000(T),0.043,0.611013,5.3,5.3,0.460000,2.225000,2.398000,0.956000,1.000000,1.000000,15.4077
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Glu1873Glu/c.5619A>G,gaA/gaG,LOW,,0.873003,0.9593,rs1885532,,,,,,chr1,236719135,236719135,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1873Glu/c.5619A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|39|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8436,0.8833,0.8022,0.84,0.88,0.82,,,,,,,,,,,,,,,,
missense_variant,HEATR1,MISSENSE,NM_018072.5:p.Val1854Ala/c.5561T>C,gTg/gCg,MODERATE,COSM3751020(4),0.485024,0.4782,rs1885533,0.8(T),"0.0,0.004(B,B)",1.15(L),-0.9253(T),,chr1,236719193,236719193,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1854Ala/c.5561T>C|2144|HEATR1|protein_coding|CODING|NM_018072.5|39|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.5086,0.6759,0.60,0.44,0.68,,0.061914(N),1.000(P),"-0.09,-0.09(T,T)",0.0000(T),0.029,-0.004214,5.07,2.76,0.455000,0.415000,1.277000,0.972000,0.998000,0.039000,6.4126
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Leu1711Leu/c.5131C>T,Ctg/Ttg,LOW,COSM3751021(2),0.614816,0.6538,rs2275688,,,,,,chr1,236721610,236721610,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1711Leu/c.5131C>T|2144|HEATR1|protein_coding|CODING|NM_018072.5|36|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4785,0.6297,0.7078,0.69,0.64,0.72,,,,,,,,,,,,,,,,
missense_variant,HEATR1,MISSENSE,NM_018072.5:p.Asn1694Ser/c.5081A>G,aAc/aGc,MODERATE,,0.677316,0.6825,rs2275689,0.77(T),"0.0,0.0(B,B)",0.4(N),-0.9995(T),,chr1,236721660,236721660,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn1694Ser/c.5081A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|36|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5133,0.7622,0.7406,0.74,0.72,0.75,,0.362040(N),1.000(P),"-0.04,-0.04(T,T)",0.0000(T),0.014,-1.006807,6.04,-7.78,-1.309000,-1.619000,-1.034000,0.544000,0.000000,0.000000,10.4912
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Ala1670Ala/c.5010A>G,gcA/gcG,LOW,,0.999601,1,rs819431,,,,,,chr1,236721731,236721731,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1670Ala/c.5010A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|36|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,HEATR1,MISSENSE,NM_018072.5:p.Tyr1433Cys/c.4298A>G,tAt/tGt,MODERATE,COSM3751022(1),0.0892572,0.0397,rs653737,0.19(T),"0.0,0.001(B,B)",1.39(L),-1.0664(T),,chr1,236729956,236729956,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1433Cys/c.4298A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|30|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1431,0.1023,0.1869,0.12,0.03,0.17,,0.644610(N),1.000(P),"1.58,1.58(T,T)",0.0000(T),0.023,1.168397,5.6,-11.2,-0.993000,-2.264000,-1.428000,0.819000,0.005000,0.001000,10.4002
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Val765Val/c.2295G>A,gtG/gtA,LOW,COSM3751024(1),0.51857,0.6518,rs2794768,,,,,,chr1,236746443,236746443,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val765Val/c.2295G>A|2144|HEATR1|protein_coding|CODING|NM_018072.5|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.453,0.5922,0.6849,0.58,0.37,0.69,,,,,,,,,,,,,,,,
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Leu687Leu/c.2061A>G,ttA/ttG,LOW,COSM3751025(1),0.51857,0.6518,rs1006456,,,,,,chr1,236748505,236748505,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu687Leu/c.2061A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.453,0.5922,0.6849,0.58,0.37,0.69,,,,,,,,,,,,,,,,
missense_variant,HEATR1,MISSENSE,NM_018072.5:p.Met607Val/c.1819A>G,Atg/Gtg,MODERATE,COSM3997357(2),0.36901,0.4712,rs2794763,0.04(D),0.055(B),2.045(M),-0.9403(T),,chr1,236749649,236749649,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met607Val/c.1819A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3875,0.464,0.6223,0.46,0.13,0.62,,0.000000(D),0.000(P),"0.63,0.63(T,T)",0.0000(T),0.458,1.507829,5.42,5.42,0.460000,2.180000,4.261000,0.121000,0.966000,1.000000,15.7547
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Arg430Arg/c.1290G>A,agG/agA,LOW,COSM146834(2),0.559505,0.7242,rs2564739,,,,,,chr1,236755837,236755837,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg430Arg/c.1290G>A|2144|HEATR1|protein_coding|CODING|NM_018072.5|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.6009,0.6998,0.60,0.39,0.71,,,,,,,,,,,,,,,,
missense_variant,HEATR1,MISSENSE,NM_018072.5:p.His348Arg/c.1043A>G,cAt/cGt,MODERATE,COSM3751026(1),0.559505,0.7242,rs2794751,0.41(T),0.001(B),-0.69(N),-0.9615(T),,chr1,236758887,236758887,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His348Arg/c.1043A>G|2144|HEATR1|protein_coding|CODING|NM_018072.5|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.6009,0.6998,0.61,0.39,0.72,,0.036947(N),0.000(P),"1.13,-0.14(T,T)",0.0000(T),0.048,-0.827217,4.98,2.97,-0.186000,0.717000,0.196000,0.717000,0.990000,0.049000,5.5938
synonymous_variant,HEATR1,SILENT,NM_018072.5:p.Ser22Ser/c.66T>C,tcT/tcC,LOW,,0.583267,0.752,rs10802551,,,,,,chr1,236767330,236767330,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser22Ser/c.66T>C|2144|HEATR1|protein_coding|CODING|NM_018072.5|2|1),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5429,0.7205,0.6928,0.60,0.40,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ACTN2,SILENT,NM_001103.3:p.Ile117Ile/c.351T>C,atT/atC,LOW,,0.992612,1,rs1341864,,,,,,chr1,236882303,236882303,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile117Ile/c.351T>C|894|ACTN2|protein_coding|CODING|NM_001103.3|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile117Ile/c.351T>C|894|ACTN2|protein_coding|CODING|NM_001278343.1|3|1),5_prime_UTR_variant(MODIFIER||16670|c.-471T>C|686|ACTN2|protein_coding|CODING|NM_001278344.1|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3",,RCV000036910.1,,1,0.9957,0.999,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ACTN2,SILENT,NM_001103.3:p.Asn126Asn/c.378C>T,aaC/aaT,LOW,,0.920727,0.9831,rs1341863,,,,,,chr1,236883421,236883421,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn126Asn/c.378C>T|894|ACTN2|protein_coding|CODING|NM_001103.3|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn126Asn/c.378C>T|894|ACTN2|protein_coding|CODING|NM_001278343.1|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||686|ACTN2|protein_coding|CODING|NM_001278344.1|4|1),5_prime_UTR_variant(MODIFIER||15552|c.-444C>T|686|ACTN2|protein_coding|CODING|NM_001278344.1|4|1)",,,RCV000036911.1,,0.9693,0.8559,0.996,0.94,0.83,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ACTN2,SILENT,NM_001103.3:p.Ser870Ser/c.2610G>A,tcG/tcA,LOW,COSM1748246(2),0.196086,0.2183,rs12063382,,,,,,chr1,236925844,236925844,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser870Ser/c.2610G>A|894|ACTN2|protein_coding|CODING|NM_001103.3|21|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser870Ser/c.2610G>A|894|ACTN2|protein_coding|CODING|NM_001278343.1|21|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser662Ser/c.1986G>A|686|ACTN2|protein_coding|CODING|NM_001278344.1|23|1)","HeLa-S3:H3K27me3,K562:PU1,K562:SP1,K562:DNase1",,RCV000036905.1|RCV000123526.1,,0.2025,0.1729,0.171,0.16,0.19,0.14,,,,,,,,,,,,,,,,
missense_variant,MTR,MISSENSE,NM_000254.2:p.Asp919Gly/c.2756A>G,gAc/gGc,MODERATE,COSM3751027(2),0.218251,0.1052,rs1805087,0.04(D),"0.161,0.21,0.161(B,B,B)",0.88(L),-1.0793(T),,chr1,237048500,237048500,A,G,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp919Gly/c.2756A>G|1265|MTR|protein_coding|CODING|NM_000254.2|26|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp868Gly/c.2603A>G|1214|MTR|protein_coding|CODING|NM_001291939.1|25|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp512Gly/c.1535A>G|858|MTR|protein_coding|CODING|NM_001291940.1|25|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3211,0.1772,0.173,0.22,0.26,0.20,,0.000017(D),0.000(P),"-0.62,-0.62,-0.62(T,T,T)",0.0000(T),0.554,2.510220,5.99,5.99,0.533000,2.291000,8.545000,0.993000,1.000000,1.000000,16.4943
synonymous_variant,MTR,SILENT,NM_000254.2:p.Leu1192Leu/c.3576C>T,ctC/ctT,LOW,COSM425684(3),0.529153,0.5198,rs1131449,,,,,,chr1,237058828,237058828,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1192Leu/c.3576C>T|1265|MTR|protein_coding|CODING|NM_000254.2|31|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1141Leu/c.3423C>T|1214|MTR|protein_coding|CODING|NM_001291939.1|30|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu785Leu/c.2355C>T|858|MTR|protein_coding|CODING|NM_001291940.1|30|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6155,0.5922,0.5358,0.55,0.47,0.59,,,,,,,,,,,,,,,,
missense_variant,RYR2,MISSENSE,NM_001035.2:p.Ala266Thr/c.796G>A,Gct/Act,MODERATE,COSM83975(3),,,rs373326624,0.06(T),0.771(P),2.455(M),0.7094(D),,chr1,237580371,237580371,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala266Thr/c.796G>A|4967|RYR2|protein_coding|CODING|NM_001035.2|11|1),H1ESC:H3K36me3,,,,,,,0.00,0.00,0.00,,0.000013(D),1.000(D),"-2.78,-2.78,-2.78(D,D,D)",0.8181(D),0.41,3.992444,5.98,5.98,0.650000,2.835000,4.660000,0.735000,0.997000,1.000000,20.4581
synonymous_variant,RYR2,SILENT,NM_001035.2:p.Ser453Ser/c.1359C>T,agC/agT,LOW,,0.535743,0.7391,rs3765097,,,,,,chr1,237617757,237617757,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser453Ser/c.1359C>T|4967|RYR2|protein_coding|CODING|NM_001035.2|15|1),,,RCV000036681.1,,0.6043,0.5447,0.5994,0.51,0.32,0.60,,,,,,,,,,,,,,,,
synonymous_variant,RYR2,SILENT,NM_001035.2:p.Ser991Ser/c.2973A>G,tcA/tcG,LOW,COSM4143549(1),0.830272,0.872,rs2253273,,,,,,chr1,237711797,237711797,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser991Ser/c.2973A>G|4967|RYR2|protein_coding|CODING|NM_001035.2|26|1),,,RCV000036722.1,,0.9652,0.951,0.9583,0.85,0.62,0.96,,,,,,,,,,,,,,,,
synonymous_variant,RYR2,SILENT,NM_001035.2:p.Leu2302Leu/c.6906T>C,ctT/ctC,LOW,,0.954872,1,rs707189,,,,,,chr1,237801770,237801770,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu2302Leu/c.6906T>C|4967|RYR2|protein_coding|CODING|NM_001035.2|45|1),,,RCV000036783.1,,1,0.987,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RYR2,SILENT,NM_001035.2:p.His2602His/c.7806C>T,caC/caT,LOW,COSM3751031(1),0.554912,0.7956,rs386605488,,,,,,chr1,237814783,237814783,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His2602His/c.7806C>T|4967|RYR2|protein_coding|CODING|NM_001035.2|51|1),,,RCV000036793.1,,0.5624,0.5029,0.4324,0.45,0.48,0.44,,,,,,,,,,,,,,,,
synonymous_variant,RYR2,SILENT,NM_001035.2:p.Ser3106Ser/c.9318T>G,tcT/tcG,LOW,,0.969249,1,rs2797436,,,,,,chr1,237863718,237863718,T,G,hom,synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser3106Ser/c.9318T>G|4967|RYR2|protein_coding|CODING|NM_001035.2|65|1),,,RCV000036803.1,,1,0.9914,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RYR2,SILENT,NM_001035.2:p.Thr3501Thr/c.10503C>T,acC/acT,LOW,,0.960463,1,rs2797441,,,,,,chr1,237881770,237881770,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr3501Thr/c.10503C>T|4967|RYR2|protein_coding|CODING|NM_001035.2|73|1),,,RCV000036650.2,,1,0.9899,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RYR2,SILENT,NM_001035.2:p.Ser3592Ser/c.10776C>T,tcC/tcT,LOW,,0.960264,1,rs2685301,,,,,,chr1,237890437,237890437,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser3592Ser/c.10776C>T|4967|RYR2|protein_coding|CODING|NM_001035.2|76|1),,,RCV000036653.1,,1,0.9899,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FMN2,SILENT,NM_020066.4:p.Ala471Ala/c.1413C>A,gcC/gcA,LOW,COSM4143555(2),0.329872,0.3006,rs10926124,,,,,,chr1,240256822,240256822,C,A,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala471Ala/c.1413C>A|1722|FMN2|protein_coding|CODING|NM_020066.4|1|1),"HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K4me3,IMR90:H3K4me3",,,,0.4796,0.3357,0.5249,0.40,0.16,0.52,,,,,,,,,,,,,,,,
synonymous_variant,FMN2,SILENT,NM_020066.4:p.Thr839Thr/c.2517C>G,acC/acG,LOW,,0.28734,0.1032,rs10926166,,,,,,chr1,240370629,240370629,C,G,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr839Thr/c.2517C>G|1722|FMN2|protein_coding|CODING|NM_020066.4|5|1),IMR90:H3K36me3,,,,0.4151,0.2507,0.4066,0.35,0.29,0.39,,,,,,,,,,,,,,,,
synonymous_variant,KMO,SILENT,NM_003679.4:p.Gly20Gly/c.60C>T,ggC/ggT,LOW,,0.373203,0.2788,rs11556464,,,,,,chr1,241712134,241712134,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly20Gly/c.60C>T|486|KMO|protein_coding|CODING|NM_003679.4|2|1),,,,,0.2965,0.4236,0.3042,0.39,0.50,0.33,,,,,,,,,,,,,,,,
synonymous_variant,CHML,SILENT,NM_001821.3:p.Ser146Ser/c.438G>A,tcG/tcA,LOW,COSM146840(2),0.276558,0.2232,rs3737604,,,,,,chr1,241798631,241798631,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser146Ser/c.438G>A|656|CHML|protein_coding|CODING|NM_001821.3|1|1),intron_variant(MODIFIER|||c.373+4553G>A|402|OPN3|protein_coding|CODING|NM_014322.2|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.2565,0.3241,0.32,0.26,0.35,,,,,,,,,,,,,,,,
missense_variant,WDR64,MISSENSE,NM_144625.4:p.Asn82Asp/c.244A>G,Aac/Gac,MODERATE,,0.013778,0,rs77229246,0.47(T),,2.045(M),-0.8659(T),,chr1,241823930,241823930,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn82Asp/c.244A>G|1081|WDR64|protein_coding|CODING|NM_144625.4|2|1),GM12878:H3K27me3,,,,0.0184,0.0173,0.0378,0.02,0.01,0.02,,0.000376(D),1.000(D),"1.18,1.06(T,T)",0.0651(T),0.082,2.677722,5.45,5.45,0.533000,2.071000,5.293000,0.316000,0.997000,1.000000,13.0524
missense_variant,WDR64,MISSENSE,NM_144625.4:p.Arg647Gln/c.1940G>A,cGa/cAa,MODERATE,COSM3751039(1),0.110024,0.003,rs12095445,,,0.345(N),-0.9931(T),,chr1,241929542,241929542,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg647Gln/c.1940G>A|1081|WDR64|protein_coding|CODING|NM_144625.4|15|1),,,,,0.0184,0.1225,0.1541,0.18,0.22,0.16,,,1.000(P),,0.0000(T),.,0.615699,4.47,0.735,-1.283000,-0.072000,2.437000,0.031000,0.228000,1.000000,3.7563
missense_variant,WDR64,MISSENSE,NM_144625.4:p.Arg952Trp/c.2854C>T,Cgg/Tgg,MODERATE,COSM3751041(1),0.11242,0.005,rs12074374,0(D),"0.874,0.928(P,D)",1.87(L),-1.0912(T),,chr1,241951329,241951329,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg952Trp/c.2854C>T|1081|WDR64|protein_coding|CODING|NM_144625.4|23|1),,,,,0.0215,0.1254,0.16,0.18,0.21,0.17,,0.046575(N),0.545(P),"1.17,0.98,0.99(T,T,T)",0.0002(T),0.359,3.271363,5.69,2.8,-0.134000,0.339000,0.373000,0.989000,0.856000,0.148000,9.3749
missense_variant,EXO1,MISSENSE,NM_006027.4:p.His354Arg/c.1061A>G,cAt/cGt,MODERATE,,0.636981,0.7956,rs735943,0.62(T),"0.001,0.0(B,B)",0.975(L),-0.9898(T),,chr1,242030151,242030151,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His354Arg/c.1061A>G|803|EXO1|protein_coding|CODING|NM_003686.4|9|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His354Arg/c.1061A>G|846|EXO1|protein_coding|CODING|NM_006027.4|9|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His354Arg/c.1061A>G|846|EXO1|protein_coding|CODING|NM_130398.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5327,0.6902,0.5716,0.57,0.62,0.54,,0.240566(N),1.000(P),"1.41,1.41,1.35(T,T,T)",0.0000(T),0.044,-1.936856,5.75,-0.821,-1.088000,-0.369000,0.382000,0.291000,0.815000,0.989000,11.7251
missense_variant,EXO1,MISSENSE,NM_006027.4:p.Val458Met/c.1372G>A,Gtg/Atg,MODERATE,COSM1340674(2),0.0898562,0,rs4149965,0.26(T),"0.003,0.001(B,B)",-0.345(N),-0.9710(T),,chr1,242035438,242035438,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val458Met/c.1372G>A|803|EXO1|protein_coding|CODING|NM_003686.4|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val458Met/c.1372G>A|846|EXO1|protein_coding|CODING|NM_006027.4|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val458Met/c.1372G>A|846|EXO1|protein_coding|CODING|NM_130398.3|12|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.1354,0.2505,0.17,0.04,0.24,,0.665867(N),1.000(P),"1.43,1.43,1.43(T,T,T)",0.0000(T),0.039,-1.092237,5.3,-3.18,-0.355000,-0.430000,0.025000,0.207000,0.020000,0.013000,0.5491
missense_variant,EXO1,MISSENSE,NM_006027.4:p.Glu670Gly/c.2009A>G,gAg/gGg,MODERATE,COSM4143582(1),0.681909,0.8085,rs1776148,0.39(T),"0.0,0.0(B,B)",0(N),-1.0000(T),,chr1,242042545,242042545,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu670Gly/c.2009A>G|803|EXO1|protein_coding|CODING|NM_003686.4|11|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu670Gly/c.2009A>G|846|EXO1|protein_coding|CODING|NM_006027.4|11|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu670Gly/c.2009A>G|846|EXO1|protein_coding|CODING|NM_130398.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.6859,0.6511,0.66,0.70,0.63,,0.024687(N),1.000(P),"1.44,1.44,1.44(T,T,T)",0.0000(T),0.206,0.749628,5.24,-5.51,-2.276000,-1.474000,-0.907000,0.000000,0.000000,0.000000,2.5181
missense_variant,EXO1,MISSENSE,NM_006027.4:p.Arg723Cys/c.2167C>T,Cgt/Tgt,MODERATE,,0.915335,0.869,rs1635498,0.23(T),"0.34,0.183(B,B)",0.69(N),-0.9763(T),,chr1,242045275,242045275,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg723Cys/c.2167C>T|803|EXO1|protein_coding|CODING|NM_003686.4|12|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg723Cys/c.2167C>T|846|EXO1|protein_coding|CODING|NM_006027.4|12|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg723Cys/c.2167C>T|846|EXO1|protein_coding|CODING|NM_130398.3|14|1)","H1ESC:H3K36me3,K562:H3K36me3",,,,0.9243,0.9784,0.9672,0.95,0.89,0.98,,0.131224(N),1.000(P),"1.35,1.35,1.28(T,T,T)",0.0000(T),0.078,0.752324,4.77,1.84,0.655000,0.315000,0.872000,0.448000,0.099000,0.032000,5.1346
missense_variant,CEP170,MISSENSE,NM_014812.2:p.Thr738Ile/c.2213C>T,aCt/aTt,MODERATE,COSM3751047(3),,,rs3766664,,,0.55(N),-1.0032(T),,chr1,243329049,243329049,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr640Ile/c.1919C>T|1486|CEP170|protein_coding|CODING|NM_001042404.1|12|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr640Ile/c.1919C>T|1460|CEP170|protein_coding|CODING|NM_001042405.1|12|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr738Ile/c.2213C>T|1584|CEP170|protein_coding|CODING|NM_014812.2|13|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,0.973(N),,0.0886(T),.,1.106068,5.25,3.25,0.484000,1.208000,1.630000,0.868000,0.502000,0.174000,7.1054
synonymous_variant,CEP170,SILENT,NM_014812.2:p.Lys729Lys/c.2187A>G,aaA/aaG,LOW,COSM3746876(4),,,rs61833876,0.52(T),,,-1.0912(T),,chr1,243329075,243329075,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys631Lys/c.1893A>G|1486|CEP170|protein_coding|CODING|NM_001042404.1|12|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys631Lys/c.1893A>G|1460|CEP170|protein_coding|CODING|NM_001042405.1|12|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys729Lys/c.2187A>G|1584|CEP170|protein_coding|CODING|NM_014812.2|13|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.005443(N),1.000(D),0.83(T),0.0922(T),.,-0.779384,5.25,2.17,-0.338000,0.238000,0.760000,0.478000,0.962000,1.000000,6.1109
synonymous_variant,SDCCAG8,SILENT,NM_006642.3:p.Glu575Glu/c.1725G>A,gaG/gaA,LOW,,0.439497,0.7847,rs10927011,,,,,,chr1,243579112,243579112,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu575Glu/c.1725G>A|713|SDCCAG8|protein_coding|CODING|NM_006642.3|14|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4192,0.5403,0.498,0.39,0.16,0.51,,,,,,,,,,,,,,,,
synonymous_variant,C1orf101,SILENT,NM_001130957.1:p.Ser384Ser/c.1152G>A,tcG/tcA,LOW,,0.273163,0.376,rs7544794,,,,,,chr1,244724092,244724092,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser384Ser/c.1152G>A|951|C1orf101|protein_coding|CODING|NM_001130957.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser233Ser/c.699G>A|800|C1orf101|protein_coding|CODING|NM_001242340.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser384Ser/c.1152G>A|832|C1orf101|protein_coding|CODING|NM_173807.4|10|1)",,,,,0.1728,0.2435,0.0775,0.19,0.38,0.09,,,,,,,,,,,,,,,,
synonymous_variant,C1orf101,SILENT,NM_001130957.1:p.Thr578Thr/c.1734A>G,acA/acG,LOW,COSM1473723(1),0.271965,0.373,rs10927267,,,,,,chr1,244735858,244735858,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr578Thr/c.1734A>G|951|C1orf101|protein_coding|CODING|NM_001130957.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr427Thr/c.1281A>G|800|C1orf101|protein_coding|CODING|NM_001242340.1|8|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr578Thr/c.1734A>G|832|C1orf101|protein_coding|CODING|NM_173807.4|11|1)",,,,,0.1728,0.2464,0.0785,0.19,0.38,0.09,,,,,,,,,,,,,,,,
synonymous_variant,COX20,SILENT,NM_198076.4:p.Cys29Cys/c.87C>T,tgC/tgT,LOW,,0.000399361,0,rs140032239,,,,,,chr1,245005290,245005290,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys29Cys/c.87C>T|118|COX20|protein_coding|CODING|NM_198076.4|2|1),non_coding_exon_variant(MODIFIER|||n.3695G>A||HNRNPU-AS1||NON_CODING|NR_026778.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,EFCAB2,SILENT,NM_001290327.1:p.Pro77Pro/c.231C>T,ccC/ccT,LOW,COSM3751069(1),0.289337,0.1935,rs10927387,,,,-1.0116(T),,chr1,245245402,245245402,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro67Pro/c.201C>T|133|EFCAB2|protein_coding|CODING|NM_001143943.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro77Pro/c.231C>T|172|EFCAB2|protein_coding|CODING|NM_001290327.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro67Pro/c.201C>T|162|EFCAB2|protein_coding|CODING|NM_032328.3|5|1),non_coding_exon_variant(MODIFIER|||n.206C>T||EFCAB2||CODING|NR_026587.1|3|1)",H1ESC:H3K36me3,,,,0.2853,0.2853,0.4453,0.35,0.25,0.39,,,0.000(P),,0.0000(T),.,1.133382,5.61,2.57,0.557000,0.722000,-0.343000,0.978000,1.000000,0.842000,3.9513
synonymous_variant,KIF26B,SILENT,NM_018012.3:p.Thr1673Thr/c.5019A>G,acA/acG,LOW,COSM3751073(2),0.989816,1,rs6701084,,,,,,chr1,245851304,245851304,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1673Thr/c.5019A>G|2108|KIF26B|protein_coding|CODING|NM_018012.3|12|1),"GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.9939,0.9784,0.9722,0.98,1.00,0.98,,,,,,,,,,,,,,,,
synonymous_variant,KIF26B,SILENT,NM_018012.3:p.Asp1996Asp/c.5988C>T,gaC/gaT,LOW,COSM3997381(1),0.400359,0.378,rs3205034,,,,,,chr1,245861571,245861571,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1996Asp/c.5988C>T|2108|KIF26B|protein_coding|CODING|NM_018012.3|13|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,GM06990:H3K36me3",,,,0.3272,0.4481,0.5537,0.53,0.40,0.58,,,,,,,,,,,,,,,,
synonymous_variant,SMYD3,SILENT,NM_001167740.1:p.Ala311Ala/c.933A>G,gcA/gcG,LOW,,0.389377,0.1925,rs2362587,,,,,,chr1,246021941,246021941,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala311Ala/c.933A>G|428|SMYD3|protein_coding|CODING|NM_001167740.1|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala252Ala/c.756A>G|369|SMYD3|protein_coding|CODING|NM_022743.2|10|1)","K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.3896,0.5173,0.7177,0.57,0.29,0.72,,,,,,,,,,,,,,,,
missense_variant,SMYD3,MISSENSE,NM_001167740.1:p.Lys13Asn/c.39G>C,aaG/aaC,MODERATE,COSM3751076(4),0.748602,0.9028,rs7520453,0.5(T),0.0(B),0.345(N),-1.0472(T),,chr1,246670481,246670481,C,G,hom,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys13Asn/c.39G>C|428|SMYD3|protein_coding|CODING|NM_001167740.1|1|1),"NHEK:CTCF,CD4:H2AZ,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,K562:CTCF,HUVEC:PolII,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:CTCFL,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.7873,0.8329,0.8618,0.78,0.55,0.88,,0.591676(N),1.000(P),"2.61,2.61(T,T)",0.0000(T),0.023,1.149145,5.31,2.13,-0.322000,0.222000,0.597000,0.609000,0.006000,0.004000,8.0023
synonymous_variant,TFB2M,SILENT,NM_022366.2:p.Phe328Phe/c.984T>C,ttT/ttC,LOW,,0.153155,0.003,rs3129568,,,,,,chr1,246707858,246707858,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe328Phe/c.984T>C|396|TFB2M|protein_coding|CODING|NM_022366.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1033,0.219,0.2803,0.24,0.19,0.27,,,,,,,,,,,,,,,,
synonymous_variant,TFB2M,SILENT,NM_022366.2:p.Pro241Pro/c.723C>T,ccC/ccT,LOW,COSM3751077(1),0.41254,0.3423,rs10754526,,,,,,chr1,246714587,246714587,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro241Pro/c.723C>T|396|TFB2M|protein_coding|CODING|NM_022366.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4049,0.4063,0.4702,0.47,0.47,0.48,,,,,,,,,,,,,,,,
synonymous_variant,TFB2M,SILENT,NM_022366.2:p.Ile147Ile/c.441C>T,atC/atT,LOW,,1,1,rs3124071,,,,,,chr1,246720798,246720798,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile147Ile/c.441C>T|396|TFB2M|protein_coding|CODING|NM_022366.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CNST,MISSENSE,NM_152609.2:p.Leu87Ser/c.260T>C,tTg/tCg,MODERATE,COSM4143624(1),0.883387,0.8919,rs386604501,1(T),"0.001,0.0(B,B)",-0.895(N),-0.9897(T),,chr1,246755124,246755124,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu87Ser/c.260T>C|616|CNST|protein_coding|CODING|NM_001139459.1|2|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu87Ser/c.260T>C|725|CNST|protein_coding|CODING|NM_152609.2|2|1)","H1ESC:H3K36me3,GM12878:BATF,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM12878:Yy1,IMR90:H3K36me3,GM12878:PolII,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1",,,,0.9427,0.9236,0.9056,0.88,0.85,0.90,,0.206825(N),1.000(P),"2.08,2.08,2.08(T,T,T)",0.0000(T),0.041,-2.518982,5.65,-2.86,-0.733000,-1.088000,-0.589000,0.000000,0.000000,0.000000,9.7039
synonymous_variant,ZNF695,SILENT,NM_020394.4:p.Lys359Lys/c.1077A>G,aaA/aaG,LOW,,0.588858,0.9722,rs3749427,,,,,,chr1,247150740,247150740,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys359Lys/c.1077A>G|515|ZNF695|protein_coding|CODING|NM_020394.4|4|1),intron_variant(MODIFIER|||n.579+683A>G||ZNF695||CODING|NR_037892.1|4|1),intron_variant(MODIFIER|||c.390+687A>G|172|ZNF695|protein_coding|CODING|NM_001204221.1|4|1),intron_variant(MODIFIER|||n.575+683A>G||ZNF670-ZNF695||NON_CODING|NR_037894.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:ZNF274,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3",,,,0.6278,0.719,0.6362,0.51,0.25,0.64,,,,,,,,,,,,,,,,
missense_variant,ZNF695,MISSENSE,NM_020394.4:p.Val87Ala/c.260T>C,gTt/gCt,MODERATE,COSM3927626(1),0.625599,0.9712,rs2642992,0.76(T),"0.0,0.0,0.0(B,B,B)",-0.97(N),-1.0523(T),,chr1,247151557,247151557,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val87Ala/c.260T>C|515|ZNF695|protein_coding|CODING|NM_020394.4|4|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val87Ala/c.260T>C|172|ZNF695|protein_coding|CODING|NM_001204221.1|4|1),splice_region_variant(LOW|||c.260T>C|172|ZNF695|protein_coding|CODING|NM_001204221.1|4|1),splice_region_variant(LOW|||c.260T>C|515|ZNF695|protein_coding|CODING|NM_020394.4|4|1),splice_region_variant(LOW|||n.445T>C||ZNF695||CODING|NR_037892.1|4|1),splice_region_variant(LOW|||n.441T>C||ZNF670-ZNF695||NON_CODING|NR_037894.1|4|1),non_coding_exon_variant(MODIFIER|||n.445T>C||ZNF695||CODING|NR_037892.1|4|1),non_coding_exon_variant(MODIFIER|||n.441T>C||ZNF670-ZNF695||NON_CODING|NR_037894.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:H3K9me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6288,0.7392,0.6412,0.55,0.33,0.64,,,1.000(P),"5.77,3.3(T,T)",0.0000(T),0.008,-0.911175,0.459,0.459,-1.063000,-0.405000,0.072000,0.356000,0.033000,0.004000,3.8938
missense_variant,ZNF695,MISSENSE,NM_020394.4:p.Arg84Lys/c.251G>A,aGa/aAa,MODERATE,,0.83107,0.9742,rs2642973,1(T),"0.0,0.002,0.0(B,B,B)",0.69(N),-0.9239(T),,chr1,247162658,247162658,C,T,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg84Lys/c.251G>A|172|ZNF695|protein_coding|CODING|NM_001204221.1|3|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg84Lys/c.251G>A|515|ZNF695|protein_coding|CODING|NM_020394.4|3|1),non_coding_exon_variant(MODIFIER|||n.436G>A||ZNF695||CODING|NR_037892.1|3|1),non_coding_exon_variant(MODIFIER|||n.432G>A||ZNF670-ZNF695||NON_CODING|NR_037894.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6196,0.9265,0.833,0.83,0.83,0.83,,,1.000(P),"5.79,3.26(T,T)",0.0000(T),0.046,-1.927999,0.149,0.149,-1.297000,-1.257000,-0.944000,0.099000,0.098000,0.254000,.
missense_variant,ZNF669,MISSENSE,NM_024804.2:p.Glu76Asp/c.228G>T,gaG/gaT,MODERATE,COSM3746892(1),0.251597,0.123,rs4925692,0.49(T),0.636(P),0.55(N),-0.9345(T),,chr1,247267274,247267274,C,A,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu76Asp/c.228G>T|464|ZNF669|protein_coding|CODING|NM_024804.2|1|1),intron_variant(MODIFIER|||c.3+225G>T|378|ZNF669|protein_coding|CODING|NM_001142572.1|1|1)","NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,K562:Gabp,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,,,0.454,0.2925,0.332,0.25,0.15,0.31,,,0.000(P),"4.79,3.37,4.75(T,T,T)",0.0000(T),0.123,2.758708,0.342,0.342,0.397000,0.392000,-1.229000,0.068000,0.066000,0.005000,2.7626
missense_variant,C1orf229,MISSENSE,NM_207401.1:p.Ser210Pro/c.628T>C,Tcg/Ccg,MODERATE,COSM4143628(4),0.397165,0.13,rs73135916,0(D),0.0(B),0(N),-0.9369(T),,chr1,247274899,247274899,A,G,het,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser210Pro/c.628T>C|237|C1orf229|protein_coding|CODING|NM_207401.1|1|1),"K562:ZBTB7A,K562:Max,K562:H3K4me3,HSMM:H2AZ,K562:PolII,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.5041,0.3487,0.3241,,,,,,1.000(P),,0.0000(T),0.036,0.231287,0.815,-0.419,-1.091000,-1.095000,-0.572000,0.004000,0.004000,0.000000,3.9894
stop_lost,VN1R5,MISSENSE,NM_173858.1:p.Ter46Glnext*?/c.136T>C,Taa/Caa,HIGH,,0.781949,0.8353,rs1778540,,,,,,chr1,247419509,247419509,T,C,hom,stop_lost(HIGH|MISSENSE|Taa/Caa|p.Ter46Glnext*?/c.136T>C|357|VN1R5|protein_coding|CODING|NM_173858.1|1|1),,,,,0.8425,0.8919,0.8877,0.81,0.61,0.90,,,,,,,,,,,,,,,,
synonymous_variant,VN1R5,SILENT,NM_173858.1:p.Thr97Thr/c.291C>T,acC/acT,LOW,,0.771965,0.8353,rs1778541,,,,,,chr1,247419664,247419664,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr97Thr/c.291C>T|357|VN1R5|protein_coding|CODING|NM_173858.1|1|1),,,,,0.8507,0.889,0.8887,0.80,0.59,0.90,,,,,,,,,,,,,,,,
synonymous_variant,NLRP3,SILENT,NM_001079821.2:p.Arg262Arg/c.786A>G,cgA/cgG,LOW,,0.919928,0.998,rs4925543,,,,,,chr1,247587531,247587531,A,G,hom,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg262Arg/c.786A>G|1036|NLRP3|protein_coding|CODING|NM_001079821.2|5|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg262Arg/c.786A>G|979|NLRP3|protein_coding|CODING|NM_001127461.2|4|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg262Arg/c.786A>G|979|NLRP3|protein_coding|CODING|NM_001127462.2|3|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg260Arg/c.780A>G|1034|NLRP3|protein_coding|CODING|NM_001243133.1|3|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg262Arg/c.786A>G|1036|NLRP3|protein_coding|CODING|NM_004895.4|3|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg262Arg/c.786A>G|922|NLRP3|protein_coding|CODING|NM_183395.2|3|1)","GM12878:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8804,0.951,0.9592,0.92,0.85,0.95,,,,,,,,,,,,,,,,
missense_variant,NLRP3,MISSENSE,NM_001079821.2:p.Gln705Lys/c.2113C>A,Cag/Aag,MODERATE,,0.0223642,0.002,rs35829419,0.9(T),"0.002,0.001,0.014,0.022,0.01(B,B,B,B,B)",0.995(L),-0.7308(T),,chr1,247588858,247588858,C,A,het,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln705Lys/c.2113C>A|1036|NLRP3|protein_coding|CODING|NM_001079821.2|5|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln705Lys/c.2113C>A|979|NLRP3|protein_coding|CODING|NM_001127461.2|4|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln705Lys/c.2113C>A|979|NLRP3|protein_coding|CODING|NM_001127462.2|3|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln703Lys/c.2107C>A|1034|NLRP3|protein_coding|CODING|NM_001243133.1|3|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln705Lys/c.2113C>A|1036|NLRP3|protein_coding|CODING|NM_004895.4|3|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln705Lys/c.2113C>A|922|NLRP3|protein_coding|CODING|NM_183395.2|3|1)","GM12878:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0368,0.0202,0.0507,0.03,0.01,0.05,,0.001058(N),1.000(N),"-2.37,-2.37,-2.37,0.66,-2.37,0.66(D,D,D,T,D,T)",0.1192(T),0.251,-0.198807,3.49,-0.977,0.655000,-0.169000,-0.234000,0.012000,0.000000,0.000000,2.2553
missense_variant,OR2B11,MISSENSE,NM_001004492.1:p.Asp300Gly/c.899A>G,gAt/gGt,MODERATE,,0.112021,0.001,rs12070953,0(D),0.001(B),3.64(H),-1.0814(T),,chr1,247614386,247614386,T,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp300Gly/c.899A>G|317|OR2B11|protein_coding|CODING|NM_001004492.1|1|1),downstream_gene_variant(MODIFIER||1980||1036|NLRP3|protein_coding|CODING|NM_001079821.2||1),downstream_gene_variant(MODIFIER||1980||979|NLRP3|protein_coding|CODING|NM_001127461.2||1),downstream_gene_variant(MODIFIER||1980||979|NLRP3|protein_coding|CODING|NM_001127462.2||1),downstream_gene_variant(MODIFIER||1980||1034|NLRP3|protein_coding|CODING|NM_001243133.1||1),downstream_gene_variant(MODIFIER||1980||1036|NLRP3|protein_coding|CODING|NM_004895.4||1),downstream_gene_variant(MODIFIER||1980||922|NLRP3|protein_coding|CODING|NM_183395.2||1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0429,0.1758,0.1352,0.16,0.20,0.15,,0.001600(N),0.197(P),1.07(T),0.0001(T),0.119,0.552289,5.09,2.72,0.523000,0.472000,5.022000,0.022000,0.289000,0.998000,5.6041
missense_variant,OR2B11,MISSENSE,NM_001004492.1:p.Thr293Ile/c.878C>T,aCc/aTc,MODERATE,,0.111821,0.001,rs12065526,1(T),0.0(B),-4.12(N),-0.9845(T),,chr1,247614407,247614407,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr293Ile/c.878C>T|317|OR2B11|protein_coding|CODING|NM_001004492.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0429,0.1758,0.1342,0.16,0.20,0.15,,0.000056(N),0.996(P),2.05(T),0.0000(T),0.088,-1.100774,5.09,5.09,-0.268000,1.076000,5.090000,0.231000,1.000000,1.000000,9.4144
synonymous_variant,OR2B11,SILENT,NM_001004492.1:p.Thr244Thr/c.732G>A,acG/acA,LOW,COSM328601(11),0.110024,0.001,rs12086048,,,,,,chr1,247614553,247614553,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr244Thr/c.732G>A|317|OR2B11|protein_coding|CODING|NM_001004492.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.044,0.1758,0.1342,0.16,0.20,0.14,,,,,,,,,,,,,,,,
missense_variant,OR2B11,MISSENSE,NM_001004492.1:p.Gly223Asp/c.668G>A,gGc/gAc,MODERATE,COSM3746893(3),0.399161,0.503,rs4925663,0(D),0.121(B),2.735(M),-1.0971(T),,chr1,247614617,247614617,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly223Asp/c.668G>A|317|OR2B11|protein_coding|CODING|NM_001004492.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5174,0.4856,0.4105,0.34,0.24,0.39,,0.943360(N),1.000(P),8.69(T),0.0000(T),0.311,2.932539,5.09,4.17,0.643000,1.512000,-0.303000,0.799000,0.887000,0.000000,12.2876
missense_variant,OR2B11,MISSENSE,NM_001004492.1:p.Val198Met/c.592G>A,Gtg/Atg,MODERATE,,0.895567,1,rs6695302,0.24(T),0.009(B),1.245(L),-0.9230(T),,chr1,247614693,247614693,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val198Met/c.592G>A|317|OR2B11|protein_coding|CODING|NM_001004492.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.999,0.9741,0.998,0.90,0.70,1.00,,0.671809(N),1.000(P),8.62(T),0.0000(T),0.036,-0.449126,5.09,-1.39,0.643000,-0.104000,-3.172000,0.033000,0.001000,0.000000,5.3764
synonymous_variant,OR2W5,SILENT,NM_001004698.2:p.Ser188Ser/c.564T>C,tcT/tcC,LOW,,0.323682,0.2659,rs10925061,,,,,,chr1,247654993,247654993,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser188Ser/c.564T>C|320|OR2W5|protein_coding|CODING|NM_001004698.2|1|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2566,0.2536,0.3231,0.35,0.44,0.30,,,,,,,,,,,,,,,,
synonymous_variant,OR2W5,SILENT,NM_001004698.2:p.His282His/c.846T>C,caT/caC,LOW,,0.323482,0.2619,rs12141850,,,,,,chr1,247655275,247655275,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His282His/c.846T>C|320|OR2W5|protein_coding|CODING|NM_001004698.2|1|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2566,0.2406,0.3241,0.35,0.45,0.30,,,,,,,,,,,,,,,,
missense_variant,OR2C3,MISSENSE,NM_198074.4:p.Pro68Ser/c.202C>T,Ccc/Tcc,MODERATE,,0.998403,1,rs6657127,1(T),0.0(B),-4.22(N),-0.9872(T),,chr1,247695612,247695612,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro68Ser/c.202C>T|320|OR2C3|protein_coding|CODING|NM_198074.4|2|1),upstream_gene_variant(MODIFIER||1506|||GCSAML-AS1||NON_CODING|NR_027309.2||1),intron_variant(MODIFIER|||c.-264+5256G>A|115|GCSAML|protein_coding|CODING|NM_001281834.1|2|1),intron_variant(MODIFIER|||c.-148+5256G>A|115|GCSAML|protein_coding|CODING|NM_001281835.1|2|1),intron_variant(MODIFIER|||c.-57+5256G>A|135|GCSAML|protein_coding|CODING|NM_001281853.1|2|1),intron_variant(MODIFIER|||c.-68+5256G>A|103|GCSAML|protein_coding|CODING|NM_001281836.1|2|1),intron_variant(MODIFIER|||c.-68+5256G>A|103|GCSAML|protein_coding|CODING|NM_001281837.1|2|1),intron_variant(MODIFIER|||c.-8+5256G>A|103|GCSAML|protein_coding|CODING|NM_001281838.1|2|1)","GM12878:H3K36me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.002019(N),0.000(P),5.49(T),0.0000(T),0.21,0.015156,4.04,4.04,-0.269000,0.713000,1.400000,0.903000,0.998000,0.242000,7.9343
missense_variant,OR2C3,MISSENSE,NM_198074.4:p.Thr20Ala/c.58A>G,Aca/Gca,MODERATE,,0.977037,1,rs6697472,0.04(D),0.0(B),0.195(N),-0.9122(T),,chr1,247695756,247695756,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr20Ala/c.58A>G|320|OR2C3|protein_coding|CODING|NM_198074.4|2|1),upstream_gene_variant(MODIFIER||1650|||GCSAML-AS1||NON_CODING|NR_027309.2||1),intron_variant(MODIFIER|||c.-264+5400T>C|115|GCSAML|protein_coding|CODING|NM_001281834.1|2|1),intron_variant(MODIFIER|||c.-148+5400T>C|115|GCSAML|protein_coding|CODING|NM_001281835.1|2|1),intron_variant(MODIFIER|||c.-57+5400T>C|135|GCSAML|protein_coding|CODING|NM_001281853.1|2|1),intron_variant(MODIFIER|||c.-68+5400T>C|103|GCSAML|protein_coding|CODING|NM_001281836.1|2|1),intron_variant(MODIFIER|||c.-68+5400T>C|103|GCSAML|protein_coding|CODING|NM_001281837.1|2|1),intron_variant(MODIFIER|||c.-8+5400T>C|103|GCSAML|protein_coding|CODING|NM_001281838.1|2|1)",GM12878:H3K36me3,,,,1,0.9885,0.999,0.97,0.93,1.00,,0.473204(N),1.000(P),8.13(T),0.0000(T),0.004,1.538504,4.04,2.04,-0.128000,0.094000,-0.679000,0.083000,0.054000,0.000000,3.3919
missense_variant,OR2G2,MISSENSE,NM_001001915.1:p.Val120Leu/c.358G>C,Gtg/Ctg,MODERATE,COSM1178405(3),0.579473,0.7599,rs1151687,0.01(D),0.082(B),1.98(M),-1.0903(T),,chr1,247752019,247752019,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val120Leu/c.358G>C|317|OR2G2|protein_coding|CODING|NM_001001915.1|1|1),,,,,0.7526,0.6686,0.7147,0.55,0.25,0.71,,0.006958(U),1.000(P),3.49(T),0.0000(T),0.254,2.254468,4.29,3.37,0.591000,1.008000,0.628000,0.993000,0.378000,0.005000,9.7522
missense_variant,OR2G2,MISSENSE,NM_001001915.1:p.Met150Val/c.448A>G,Atg/Gtg,MODERATE,,0.0672923,0,rs61732336,1(T),0.003(B),-1.41(N),-1.0707(T),,chr1,247752109,247752109,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met150Val/c.448A>G|317|OR2G2|protein_coding|CODING|NM_001001915.1|1|1),,,,,0.0337,0.1095,0.1034,0.10,0.09,0.10,,0.970689(N),1.000(P),1.39(T),0.0006(T),0.036,-2.729325,4.29,-5.33,-1.221000,-1.465000,-3.255000,0.015000,0.000000,0.000000,3.6913
missense_variant,OR2G2,MISSENSE,NM_001001915.1:p.Arg236Gly/c.706A>G,Agg/Ggg,MODERATE,COSM3997392(1),0.388778,0.4444,rs869111,1(T),0.0(B),-2.96(N),-1.0228(T),,chr1,247752367,247752367,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg236Gly/c.706A>G|317|OR2G2|protein_coding|CODING|NM_001001915.1|1|1),,,,,0.3364,0.3444,0.5159,0.44,0.31,0.50,,0.002316(N),1.000(P),9.24(T),0.0000(T),0.035,-2.051580,4.29,4.29,-0.186000,1.023000,0.583000,0.008000,0.038000,0.290000,10.1869
synonymous_variant,OR2G3,SILENT,NM_001001914.1:p.Thr110Thr/c.330T>G,acT/acG,LOW,,0.0367412,0,rs61750030,,,,,,chr1,247769217,247769217,T,G,hom,synonymous_variant(LOW|SILENT|acT/acG|p.Thr110Thr/c.330T>G|309|OR2G3|protein_coding|CODING|NM_001001914.1|1|1),,,,,0.0297,0.0447,0.1074,0.07,0.03,0.10,,,,,,,,,,,,,,,,
missense_variant,OR2G3,MISSENSE,NM_001001914.1:p.Ile289Val/c.865A>G,Atc/Gtc,MODERATE,COSM3997393(1),0.338059,0.4325,rs61730407,0.02(D),0.994(D),2.83(M),-0.9693(T),,chr1,247769752,247769752,A,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile289Val/c.865A>G|309|OR2G3|protein_coding|CODING|NM_001001914.1|1|1),,,,,0.2996,0.3127,0.4394,0.36,0.24,0.42,,0.002213(U),1.000(P),0.68(T),0.0000(T),0.118,2.630914,3.65,3.65,0.403000,1.648000,0.983000,0.988000,0.531000,0.445000,10.5906
synonymous_variant,OR1C1,SILENT,NM_012353.2:p.Gly203Gly/c.609A>C,ggA/ggC,LOW,,0.732428,0.7659,rs1552812,,,,,,chr1,247921100,247921100,T,G,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly203Gly/c.609A>C|314|OR1C1|protein_coding|CODING|NM_012353.2|1|1),,,,,0.7894,0.8775,0.9115,0.77,0.52,0.89,,,,,,,,,,,,,,,,
synonymous_variant,OR1C1,SILENT,NM_012353.2:p.Ala119Ala/c.357G>A,gcG/gcA,LOW,,0.84405,0.9851,rs1552813,,,,,,chr1,247921352,247921352,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala119Ala/c.357G>A|314|OR1C1|protein_coding|CODING|NM_012353.2|1|1),,,,,0.8793,0.9236,0.9573,0.84,0.63,0.94,,,,,,,,,,,,,,,,
synonymous_variant,OR14A16,SILENT,NM_001001966.1:p.Gly299Gly/c.897G>T,ggG/ggT,LOW,COSM3751092(1),0.0932508,0.003,rs12734733,,,,,,chr1,247978135,247978135,C,A,hom,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly299Gly/c.897G>T|309|OR14A16|protein_coding|CODING|NM_001001966.1|1|1),,,,,0.1288,0.1888,0.1968,0.14,0.04,0.19,,,,,,,,,,,,,,,,
missense_variant,OR14A16,MISSENSE,NM_001001966.1:p.Ile238Thr/c.713T>C,aTt/aCt,MODERATE,,0.998802,1,rs6695283,1(T),0.002(B),-3.6(N),-0.9595(T),,chr1,247978319,247978319,A,G,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile238Thr/c.713T>C|309|OR14A16|protein_coding|CODING|NM_001001966.1|1|1),,,,,1,1,1,1.00,1.00,1.00,,0.000277(N),0.997(P),1.48(T),0.0000(T),0.082,-1.072627,3.84,3.84,-0.181000,0.868000,2.641000,0.286000,0.080000,0.996000,11.4029
synonymous_variant,OR14A16,SILENT,NM_001001966.1:p.Leu12Leu/c.36T>C,ctT/ctC,LOW,,0.846845,1,rs10888249,,,,,,chr1,247978996,247978996,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu12Leu/c.36T>C|309|OR14A16|protein_coding|CODING|NM_001001966.1|1|1),,,,,0.9877,0.9035,0.9175,0.82,0.61,0.93,,,,,,,,,,,,,,,,
synonymous_variant,OR11L1,SILENT,NM_001001959.1:p.Thr195Thr/c.585C>T,acC/acT,LOW,COSM4143635(1),0.846845,0.996,rs6667389,,,,,,chr1,248004614,248004614,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr195Thr/c.585C>T|322|OR11L1|protein_coding|CODING|NM_001001959.1|1|1),,,,,0.9254,0.8703,0.8986,0.80,0.65,0.88,,,,,,,,,,,,,,,,
missense_variant,OR11L1,MISSENSE,NM_001001959.1:p.Arg171Pro/c.512G>C,cGc/cCc,MODERATE,COSM4143636(1),0.870407,0.996,rs10888255,1(T),0.0(B),-1.65(N),-0.9639(T),,chr1,248004687,248004687,C,G,hom,missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg171Pro/c.512G>C|322|OR11L1|protein_coding|CODING|NM_001001959.1|1|1),,,,,0.9264,0.8732,0.8986,0.83,0.73,0.88,,0.049479(N),1.000(P),1.29(T),0.0000(T),0.053,-1.970806,4.27,4.27,-0.248000,1.161000,0.879000,0.245000,0.947000,0.001000,9.0615
missense_variant,OR11L1,MISSENSE,NM_001001959.1:p.Ala142Thr/c.424G>A,Gcc/Acc,MODERATE,,0.890575,0.996,rs10888256,0.5(T),0.01(B),-0.045(N),-0.9882(T),,chr1,248004775,248004775,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala142Thr/c.424G>A|322|OR11L1|protein_coding|CODING|NM_001001959.1|1|1),,,,,0.9264,0.8804,0.8986,0.85,0.78,0.88,,0.925746(N),1.000(P),1.18(T),0.0000(T),0.011,-1.392685,4.42,1.79,-0.408000,-0.024000,-3.051000,0.021000,0.003000,0.000000,9.3143
missense_variant,OR11L1,MISSENSE,NM_001001959.1:p.Phe117Leu/c.351C>G,ttC/ttG,MODERATE,COSM4143637(1),0.890375,0.996,rs4607924,0.1(T),0.0(B),0(N),-0.9932(T),,chr1,248004848,248004848,G,C,hom,missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe117Leu/c.351C>G|322|OR11L1|protein_coding|CODING|NM_001001959.1|1|1),,,,,0.9264,0.8804,0.8986,0.85,0.78,0.88,,0.351302(U),1.000(P),5.03(T),0.0000(T),0.045,0.535317,4.42,1.29,-0.248000,-0.055000,-1.811000,0.182000,0.330000,0.000000,9.0887
missense_variant,OR11L1,MISSENSE,NM_001001959.1:p.Gly108Ser/c.322G>A,Ggc/Agc,MODERATE,,0.871006,0.996,rs10888257,0.29(T),0.892(P),2.28(M),-0.9497(T),,chr1,248004877,248004877,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly108Ser/c.322G>A|322|OR11L1|protein_coding|CODING|NM_001001959.1|1|1),,,,,0.9264,0.8732,0.8986,0.83,0.73,0.88,,0.002249(U),0.996(P),4.44(T),0.0000(T),0.073,1.240398,4.2,3.29,-0.253000,1.126000,0.208000,0.003000,0.232000,0.000000,10.1056
synonymous_variant,OR11L1,SILENT,NM_001001959.1:p.Val105Val/c.315A>G,gtA/gtG,LOW,,0.95627,1,rs1339845,,,,,,chr1,248004884,248004884,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val105Val/c.315A>G|322|OR11L1|protein_coding|CODING|NM_001001959.1|1|1),,,,,0.998,0.951,0.9592,0.94,0.90,0.96,,,,,,,,,,,,,,,,
missense_variant,TRIM58,MISSENSE,NM_015431.3:p.Trp3Ser/c.8G>C,tGg/tCg,MODERATE,COSM425890(8),0.680112,0.7897,rs11204523,1(T),0.0(B),-1.75(N),-0.9411(T),,chr1,248020556,248020556,G,C,het,missense_variant(MODERATE|MISSENSE|tGg/tCg|p.Trp3Ser/c.8G>C|486|TRIM58|protein_coding|CODING|NM_015431.3|1|1),"K562:ZBTB7A,K562:Max,K562:H3K4me3,K562:PolII,GM12878:H3K27me3,H1ESC:H3K27me3,K562:Cmyc,K562:E2F6,HSMM:H3K4me3,K562:HEY1,K562:H3K4me2,K562:H2AZ,K562:DNase1",,,,0.8067,0.7262,0.7614,0.68,0.51,0.77,,0.643519(N),1.000(P),0.3(T),0.0000(T),0.046,-0.973024,3.94,2.99,-0.127000,0.612000,0.548000,0.007000,0.008000,0.006000,11.8794
synonymous_variant,TRIM58,SILENT,NM_015431.3:p.Asp156Asp/c.468C>T,gaC/gaT,LOW,COSM3751093(1),0.257188,0.1885,rs3737277,,,,,,chr1,248023966,248023966,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp156Asp/c.468C>T|486|TRIM58|protein_coding|CODING|NM_015431.3|2|1),K562:H3K36me3,,,,0.2045,0.268,0.2744,0.30,0.33,0.28,,,,,,,,,,,,,,,,
synonymous_variant,TRIM58,SILENT,NM_015431.3:p.Pro243Pro/c.729G>A,ccG/ccA,LOW,COSM3751094(1),0.415735,0.5744,rs946696,,,,,,chr1,248028219,248028219,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro243Pro/c.729G>A|486|TRIM58|protein_coding|CODING|NM_015431.3|3|1),"K562:H3K36me3,H1ESC:H3K9me3",,,,0.5685,0.4409,0.5716,0.42,0.13,0.56,,,,,,,,,,,,,,,,
missense_variant,TRIM58,MISSENSE,NM_015431.3:p.Thr374Met/c.1121C>T,aCg/aTg,MODERATE,COSM146852(3),0.227436,0.2292,rs3811444,0.22(T),0.964(D),2(M),-1.0465(T),,chr1,248039451,248039451,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr374Met/c.1121C>T|486|TRIM58|protein_coding|CODING|NM_015431.3|6|1),,"Red_blood_cell_traits,Platelet_counts",,,0.3139,0.2896,0.3449,0.26,0.09,0.35,,0.027168(N),1.000(P),-0.4(T),0.0000(T),0.104,0.245339,4.05,2.21,-0.133000,0.697000,0.168000,0.001000,0.011000,0.000000,4.5153
synonymous_variant,TRIM58,SILENT,NM_015431.3:p.Thr461Thr/c.1383A>G,acA/acG,LOW,,0.584065,0.5417,rs3811445,,,,,,chr1,248039713,248039713,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr461Thr/c.1383A>G|486|TRIM58|protein_coding|CODING|NM_015431.3|6|1),,,,,0.6053,0.7075,0.5865,0.59,0.57,0.59,,,,,,,,,,,,,,,,
missense_variant,OR2W3,MISSENSE,NM_001001957.2:p.Arg179Cys/c.535C>T,Cgt/Tgt,MODERATE,COSM3751095(4),0.388978,0.5714,rs10888267,1(T),0.0(B),-3.96(N),-0.9138(T),,chr1,248059423,248059423,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg179Cys/c.535C>T|314|OR2W3|protein_coding|CODING|NM_001001957.2|1|1),,,,,0.4172,0.3487,0.5308,0.43,0.23,0.53,,0.000003(N),0.995(P),"2.44,2.44(T,T)",0.0000(T),0.114,0.108070,5.28,4.15,-0.326000,0.459000,3.535000,0.964000,0.999000,1.000000,8.1064
missense_variant,OR2W3,MISSENSE,NM_001001957.2:p.Val190Ile/c.568G>A,Gtc/Atc,MODERATE,COSM1600163(3),0.363618,0.5327,rs12135078,0.08(T),0.104(B),1.525(L),-1.0003(T),,chr1,248059456,248059456,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val190Ile/c.568G>A|314|OR2W3|protein_coding|CODING|NM_001001957.2|1|1),,,,,0.4346,0.3357,0.5507,0.40,0.14,0.54,,0.120313(N),1.000(P),"8.76,8.76(T,T)",0.0000(T),0.024,0.723453,5.28,0.041,-0.199000,0.382000,-1.678000,0.013000,0.129000,0.000000,4.0481
missense_variant,OR2W3,MISSENSE,NM_001001957.2:p.Glu196Asp/c.588A>C,gaA/gaC,MODERATE,COSM3997394(1),0.576078,0.5833,rs12139390,0.05(D),0.986(D),2.515(M),-0.9137(T),,chr1,248059476,248059476,A,C,hom,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu196Asp/c.588A>C|314|OR2W3|protein_coding|CODING|NM_001001957.2|1|1),,,,,0.7546,0.5965,0.7962,0.66,0.36,0.81,,0.000009(D),1.000(P),"8.44,8.44(T,T)",0.0000(T),0.208,2.058771,5.29,-2.08,0.496000,-0.240000,-0.407000,0.020000,0.152000,0.002000,11.1148
missense_variant,OR2W3,MISSENSE,NM_001001957.2:p.Met272Lys/c.815T>A,aTg/aAg,MODERATE,COSM4143640(1),0.478035,0.5893,rs11204545,1(T),0.0(B),-2.59(N),-1.0275(T),,chr1,248059703,248059703,T,A,hom,missense_variant(MODERATE|MISSENSE|aTg/aAg|p.Met272Lys/c.815T>A|314|OR2W3|protein_coding|CODING|NM_001001957.2|1|1),,,,,0.4755,0.4553,0.665,0.55,0.36,0.65,,0.000005(N),1.000(P),"8.92,8.92(T,T)",0.0000(T),0.087,-1.225422,5.29,5.29,-0.311000,1.038000,0.366000,0.661000,1.000000,0.000000,9.4446
missense_variant,OR2W3,MISSENSE,NM_001001957.2:p.Met275Thr/c.824T>C,aTg/aCg,MODERATE,COSM4143641(1),0.479832,0.5903,rs11204546,0.83(T),0.0(B),-2.94(N),-1.0690(T),,chr1,248059712,248059712,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met275Thr/c.824T>C|314|OR2W3|protein_coding|CODING|NM_001001957.2|1|1),,,,,0.4816,0.4568,0.667,0.55,0.36,0.65,,0.000007(N),1.000(P),"8.88,8.88(T,T)",0.0000(T),0.059,-1.352137,5.29,5.29,-0.166000,1.488000,0.343000,0.383000,0.999000,0.000000,13.2311
missense_variant,OR2T8,MISSENSE,NM_001005522.1:p.Gly39Ser/c.115G>A,Ggc/Agc,MODERATE,COSM3997395(1),0.462859,0.372,rs11204563,0.08(T),0.107(B),2.845(M),-1.0376(T),,chr1,248084434,248084434,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly39Ser/c.115G>A|312|OR2T8|protein_coding|CODING|NM_001005522.1|1|1),,,,,0.5174,0.6686,0.7813,,,,,0.046294(U),0.042(P),6.77(T),0.0000(T),0.408,2.624693,3.65,1.72,0.603000,0.231000,1.824000,0.226000,0.059000,0.022000,7.4937
missense_variant,OR2T8,MISSENSE,NM_001005522.1:p.Trp49Arg/c.145T>C,Tgg/Cgg,MODERATE,,,,rs11204564,0.15(T),0.0(B),0(N),-1.0097(T),,chr1,248084464,248084464,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp49Arg/c.145T>C|312|OR2T8|protein_coding|CODING|NM_001005522.1|1|1),,,,,,,,,,,,0.026254(N),1.000(P),4.12(T),0.0000(T),0.075,0.378628,3.65,-1.25,-0.176000,-0.330000,-5.957000,0.058000,0.000000,0.000000,0.4049
missense_variant,OR2T8,MISSENSE,NM_001005522.1:p.Ala221Ser/c.661G>T,Gct/Tct,MODERATE,,0.355631,0.3244,rs111275277,0.23(T),0.089(B),0.045(N),-0.9839(T),,chr1,248084980,248084980,G,T,hom,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala221Ser/c.661G>T|312|OR2T8|protein_coding|CODING|NM_001005522.1|1|1),,,,,0.3742,0.5072,0.5507,,,,,0.661922(N),1.000(P),1.24(T),0.0000(T),0.163,0.851203,3.37,-0.126,0.404000,0.111000,-3.937000,0.276000,0.002000,0.000000,2.4369
synonymous_variant,OR2T8,SILENT,NM_001005522.1:p.His263His/c.789C>T,caC/caT,LOW,COSM3997396(1),,,rs4625315,,,,,,chr1,248085108,248085108,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His263His/c.789C>T|312|OR2T8|protein_coding|CODING|NM_001005522.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR2L8,SILENT,NM_001001963.1:p.Cys156Cys/c.468T>C,tgT/tgC,LOW,,0.411941,0.4385,rs4925787,,,,,,chr1,248112627,248112627,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys156Cys/c.468T>C|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+11941T>C|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.5194,0.549,0.6103,0.46,0.19,0.60,,,,,,,,,,,,,,,,
missense_variant,OR2L8,MISSENSE,NM_001001963.1:p.Gly196Cys/c.586G>T,Ggc/Tgc,MODERATE,,0.722843,0.7808,rs4925788,0.16(T),0.013(B),0.255(N),-0.9027(T),,chr1,248112745,248112745,G,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly196Cys/c.586G>T|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12059G>T|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.9305,0.8746,0.8767,,,,,0.424910(N),0.987(P),8.74(T),0.0000(T),0.148,-0.441744,1.79,0.544,-0.532000,-0.000000,-5.079000,0.622000,0.705000,0.000000,0.1013
synonymous_variant,OR2L8,SILENT,NM_001001963.1:p.Ser201Ser/c.603T>C,agT/agC,LOW,COSM3930711(1),0.729832,0.8165,rs4925789,,,,,,chr1,248112762,248112762,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser201Ser/c.603T>C|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12076T>C|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.9356,0.8991,0.9294,0.56,0.12,0.78,,,,,,,,,,,,,,,,
missense_variant,OR2L8,MISSENSE,NM_001001963.1:p.Ala202Thr/c.604G>A,Gcc/Acc,MODERATE,COSM3930712(1),0.743211,0.8165,rs4925790,0.39(T),0.008(B),-0.035(N),-1.0472(T),,chr1,248112763,248112763,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala202Thr/c.604G>A|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12077G>A|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.9366,0.9049,0.9294,0.58,0.18,0.79,,0.004342(N),1.000(P),1.18(T),0.0000(T),0.021,-2.770489,1.79,1.79,-0.539000,-0.000000,-0.914000,0.109000,0.035000,0.000000,4.9265
synonymous_variant,OR2L8,SILENT,NM_001001963.1:p.Ile204Ile/c.612C>T,atC/atT,LOW,,,,rs4925791,,,,,,chr1,248112771,248112771,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile204Ile/c.612C>T|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12085C>T|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,,,,0.63,0.20,0.85,,,,,,,,,,,,,,,,
missense_variant,OR2L8,MISSENSE,NM_001001963.1:p.Tyr217Cys/c.650A>G,tAt/tGt,MODERATE,,0.75599,0.8829,rs4925583,0.01(D),1.0(D),3.76(H),-0.9027(T),,chr1,248112809,248112809,A,G,hom,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr217Cys/c.650A>G|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12123A>G|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.954,0.9251,0.9513,0.75,0.38,0.94,,0.013079(U),0.000(P),6.85(T),0.0000(T),0.224,1.106945,1.8,1.8,0.397000,0.837000,6.755000,0.100000,0.381000,1.000000,8.4143
missense_variant,OR2L8,MISSENSE,NM_001001963.1:p.His226Arg/c.677A>G,cAc/cGc,MODERATE,,0.761981,0.8849,rs4925792,1(T),0.004(B),-1.21(N),-0.9049(T),,chr1,248112836,248112836,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His226Arg/c.677A>G|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12150A>G|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.954,0.9265,0.9503,0.77,0.41,0.95,,0.761494(N),1.000(P),9.09(T),0.0000(T),0.019,-3.572215,1.8,-3.61,-1.489000,-1.489000,-2.750000,0.121000,0.004000,0.000000,9.2106
stop_gained,OR2L8,NONSENSE,NM_001001963.1:p.Tyr289*/c.867T>A,taT/taA,HIGH,,0.745807,0.8532,rs10888281,1(T),,,,,chr1,248113026,248113026,T,A,hom,"stop_gained(HIGH|NONSENSE|taT/taA|p.Tyr289*/c.867T>A|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12340T>A|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.9315,0.9135,0.9453,0.75,0.40,0.93,,,0.000(P),,,.,3.132396,1.8,-0.299,-0.388000,0.104000,-2.946000,0.948000,0.927000,0.000000,5.7859
missense_variant,OR2L8,MISSENSE,NM_001001963.1:p.Lys294Arg/c.881A>G,aAg/aGg,MODERATE,,0.938099,0.9603,rs10888282,0.17(T),0.157(B),1.99(M),-1.0298(T),,chr1,248113040,248113040,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys294Arg/c.881A>G|312|OR2L8|protein_coding|CODING|NM_001001963.1|1|1),intron_variant(MODIFIER|||c.-144+12354A>G|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.9683,0.9784,0.993,,,,,,0.000(P),1.01(T),0.0000(T),0.159,2.188235,1.8,1.8,0.397000,0.837000,3.686000,0.990000,0.973000,0.100000,8.4143
missense_variant,OR2AK2,MISSENSE,NM_001004491.1:p.Val203Met/c.607G>A,Gtg/Atg,MODERATE,COSM3997400(2),0.43131,0.4623,rs4478844,0(D),0.994(D),1.95(M),-1.0520(T),,chr1,248129240,248129240,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val203Met/c.607G>A|335|OR2AK2|protein_coding|CODING|NM_001004491.1|1|1),intron_variant(MODIFIER|||c.-144+28554G>A|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",CD4:H3K36me3,,,,0.5317,0.5706,0.6531,0.49,0.19,0.64,,,1.000(P),8.64(T),0.0000(T),0.049,2.805213,2.89,0.632,0.455000,0.522000,-1.749000,0.568000,0.013000,0.000000,3.3382
missense_variant,OR2L3,MISSENSE,NM_001004687.1:p.Gln169Arg/c.506A>G,cAa/cGa,MODERATE,,0.340455,0.2817,rs56834114,0.55(T),0.002(B),-0.99(N),-0.9815(T),,chr1,248224489,248224489,A,G,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln169Arg/c.506A>G|312|OR2L3|protein_coding|CODING|NM_001004687.1|1|1),intron_variant(MODIFIER|||c.-143-37464A>G|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,0.1401,0.1758,0.1869,,,,,0.540099(N),1.000(P),1.26(T),0.0000(T),0.036,-2.633993,2.05,-4.11,-5.144000,-3.825000,-2.401000,0.000000,0.000000,0.000000,7.5475
synonymous_variant,OR2L3,SILENT,NM_001004687.1:p.Ile204Ile/c.612C>T,atC/atT,LOW,COSM4143650(2),,,rs76336532,,,,,,chr1,248224595,248224595,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile204Ile/c.612C>T|312|OR2L3|protein_coding|CODING|NM_001004687.1|1|1),intron_variant(MODIFIER|||c.-143-37358C>T|312|OR2L13|protein_coding|CODING|NM_175911.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR2M2,SILENT,NM_001004688.1:p.Leu86Leu/c.256C>T,Ctg/Ttg,LOW,,0.578474,0.4306,rs9435919,,,,,,chr1,248343543,248343543,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu86Leu/c.256C>T|347|OR2M2|protein_coding|CODING|NM_001004688.1|1|1),,,,,0.5961,0.6052,0.6382,0.64,0.62,0.65,,,,,,,,,,,,,,,,
synonymous_variant,OR2M3,SILENT,NM_001004689.1:p.Glu111Glu/c.333G>A,gaG/gaA,LOW,,0.483027,0.4325,rs4916112,,,,,,chr1,248366702,248366702,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu111Glu/c.333G>A|312|OR2M3|protein_coding|CODING|NM_001004689.1|1|1),,,,,0.5951,0.5072,0.6083,0.54,0.38,0.62,,,,,,,,,,,,,,,,
synonymous_variant,OR2M3,SILENT,NM_001004689.1:p.Cys141Cys/c.423T>C,tgT/tgC,LOW,COSM3751100(1),0.246006,0.3542,rs12562957,,,,,,chr1,248366792,248366792,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys141Cys/c.423T>C|312|OR2M3|protein_coding|CODING|NM_001004689.1|1|1),,,,,0.3333,0.255,0.1451,0.15,0.16,0.15,,,,,,,,,,,,,,,,
synonymous_variant,OR2M4,SILENT,NM_017504.1:p.His176His/c.528C>T,caC/caT,LOW,,0.702875,0.7966,rs386604235,,,,,,chr1,248402758,248402758,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His176His/c.528C>T|311|OR2M4|protein_coding|CODING|NM_017504.1|1|1),,,,,0.9121,0.7522,0.7346,0.66,0.50,0.75,,,,,,,,,,,,,,,,
missense_variant,OR2T12,MISSENSE,NM_001004692.1:p.Arg301Leu/c.902G>T,cGg/cTg,MODERATE,COSM4143657(1),0.794728,0.8591,rs6667171,0(D),0.014(B),1.945(M),-0.9173(T),,chr1,248457979,248457979,C,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg301Leu/c.902G>T|320|OR2T12|protein_coding|CODING|NM_001004692.1|1|1),,,,,0.8926,0.7608,0.7177,0.75,0.77,0.75,,0.509856(U),1.000(P),1.04(T),0.0000(T),0.119,0.986776,1.25,-1.12,0.175000,-0.207000,-1.839000,0.175000,0.002000,0.000000,5.2518
missense_variant,OR2T12,MISSENSE,NM_001004692.1:p.Lys296Asn/c.888G>C,aaG/aaC,MODERATE,,0.213059,0.3591,rs11204625,0.22(T),0.703(P),2.105(M),-1.0601(T),,chr1,248457993,248457993,C,G,het,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys296Asn/c.888G>C|320|OR2T12|protein_coding|CODING|NM_001004692.1|1|1),,,,,0.3548,0.2464,0.174,0.13,0.04,0.17,,0.102541(U),1.000(P),1.02(T),0.0000(T),0.086,1.588879,1.71,-3.42,0.418000,-0.825000,-0.317000,0.059000,0.000000,0.000000,4.0137
missense_variant,OR2T12,MISSENSE,NM_001004692.1:p.Met69Val/c.205A>G,Atg/Gtg,MODERATE,COSM1600062(4),,,rs6678138,0.25(T),0.001(B),0.61(N),-0.9280(T),,chr1,248458676,248458676,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met69Val/c.205A>G|320|OR2T12|protein_coding|CODING|NM_001004692.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.228852(N),1.000(P),4.21(T),0.0064(T),0.061,-0.131927,1.22,-2.44,0.147000,-1.191000,-2.788000,0.600000,0.016000,0.000000,0.9918
synonymous_variant,OR2T12,SILENT,NM_001004692.1:p.Leu64Leu/c.192T>C,ctT/ctC,LOW,COSM146853(1),,,rs6674940,,,,,,chr1,248458689,248458689,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu64Leu/c.192T>C|320|OR2T12|protein_coding|CODING|NM_001004692.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR2T12,MISSENSE,NM_001004692.1:p.Arg55Thr/c.164G>C,aGg/aCg,MODERATE,COSM3773482(3),,,rs12745228,1(T),0.0(B),-2.765(N),-0.9195(T),,chr1,248458717,248458717,C,G,hom,missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg55Thr/c.164G>C|320|OR2T12|protein_coding|CODING|NM_001004692.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.002679(N),1.000(P),8.03(T),0.0001(T),0.12,-1.591375,1.55,0.445,-1.614000,-1.867000,0.396000,0.176000,0.130000,0.000000,9.5701
missense_variant,OR2T12,MISSENSE,NM_001004692.1:p.Trp49Arg/c.145T>C,Tgg/Cgg,MODERATE,COSM3773483(2),0.227236,0.3601,rs28409263,0.19(T),0.0(B),-0.4(N),-0.9054(T),,chr1,248458736,248458736,A,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp49Arg/c.145T>C|320|OR2T12|protein_coding|CODING|NM_001004692.1|1|1),H1ESC:H3K9me3,,,,0.3548,0.2522,0.1769,0.12,0.06,0.14,,0.026254(N),1.000(P),4.12(T),0.0000(T),0.028,-0.566654,1.55,-3.09,-1.352000,-1.597000,-3.039000,0.056000,0.000000,0.000000,0.2054
missense_variant,OR2T12,MISSENSE,NM_001004692.1:p.Ala41Ser/c.121G>T,Gcc/Tcc,MODERATE,COSM1341134(1),0.251198,0.3591,rs12135684,0.74(T),0.008(B),0.365(N),-1.0279(T),,chr1,248458760,248458760,C,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala41Ser/c.121G>T|320|OR2T12|protein_coding|CODING|NM_001004692.1|1|1),H1ESC:H3K9me3,,,,0.3599,0.2651,0.1849,0.16,0.13,0.18,,0.306246(U),1.000(P),5.54(T),0.0000(T),0.091,0.227590,1.55,-3.09,0.175000,-0.223000,-7.823000,0.239000,0.016000,0.000000,6.1685
synonymous_variant,OR2M7,SILENT,NM_001004691.1:p.Leu285Leu/c.855G>A,ctG/ctA,LOW,,0.213658,0.3641,rs4451579,,,,,,chr1,248487016,248487016,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu285Leu/c.855G>A|312|OR2M7|protein_coding|CODING|NM_001004691.1|1|1),,,,,0.3558,0.245,0.172,0.13,0.04,0.17,,,,,,,,,,,,,,,,
missense_variant,OR2M7,MISSENSE,NM_001004691.1:p.Asp191Asn/c.571G>A,Gac/Aac,MODERATE,COSM3751102(2),0.40655,0.494,rs4916129,0.07(T),0.06(B),2.355(M),-0.9674(T),,chr1,248487300,248487300,C,T,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp191Asn/c.571G>A|312|OR2M7|protein_coding|CODING|NM_001004691.1|1|1),H1ESC:H3K9me3,,,,0.5337,0.4539,0.5159,0.44,0.22,0.55,,0.004419(U),1.000(P),8.49(T),0.0000(T),0.027,1.654451,1.55,1.55,0.194000,0.850000,-0.532000,0.400000,0.180000,0.000000,5.9237
missense_variant,OR2M7,MISSENSE,NM_001004691.1:p.Cys178Phe/c.533G>T,tGc/tTc,MODERATE,COSM4143659(1),0.827476,0.8621,rs4916130,1(T),0.0(B),-3.615(N),-0.9027(T),,chr1,248487338,248487338,C,A,hom,missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys178Phe/c.533G>T|312|OR2M7|protein_coding|CODING|NM_001004691.1|1|1),H1ESC:H3K9me3,,,,0.8967,0.7709,0.7137,0.78,0.85,0.74,,,1.000(P),8.83(T),0.0000(T),0.055,-2.338456,1.38,-0.27,-1.447000,-0.180000,0.037000,0.102000,0.495000,0.788000,4.3941
missense_variant,OR2M7,MISSENSE,NM_001004691.1:p.Val78Ala/c.233T>C,gTa/gCa,MODERATE,,0.800519,0.8601,rs7555310,0.01(D),0.701(P),1.915(M),-1.0765(T),,chr1,248487638,248487638,A,G,hom,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val78Ala/c.233T>C|312|OR2M7|protein_coding|CODING|NM_001004691.1|1|1),H1ESC:H3K9me3,,,,0.8967,0.7651,0.7117,0.76,0.78,0.75,,0.163532(U),1.000(P),3.53(T),0.0000(T),0.084,1.833168,1.54,-0.0112,0.155000,0.703000,0.285000,0.318000,0.903000,0.000000,7.0716
missense_variant,OR2M7,MISSENSE,NM_001004691.1:p.Phe35Leu/c.103T>C,Ttt/Ctt,MODERATE,,0.800919,0.8621,rs7555424,0.01(D),0.291(B),2.2(M),-1.1098(T),,chr1,248487768,248487768,A,G,hom,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe35Leu/c.103T>C|312|OR2M7|protein_coding|CODING|NM_001004691.1|1|1),H1ESC:H3K9me3,,,,0.8957,0.7651,0.7137,0.76,0.78,0.75,,0.084636(U),1.000(P),3.67(T),0.0000(T),0.074,1.841956,1.55,1.55,0.163000,0.708000,6.912000,0.442000,0.080000,0.719000,8.684
synonymous_variant,OR14C36,SILENT,NM_001001918.1:p.Thr6Thr/c.18C>T,acC/acT,LOW,COSM3751103(1),0.464257,0.4315,rs28728105,,,,,,chr1,248512094,248512094,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr6Thr/c.18C>T|312|OR14C36|protein_coding|CODING|NM_001001918.1|1|1),,,,,0.5409,0.4885,0.5239,0.52,0.42,0.57,,,,,,,,,,,,,,,,
missense_variant,OR14C36,MISSENSE,NM_001001918.1:p.Gln141Arg/c.422A>G,cAg/cGg,MODERATE,,0.254393,0.4276,rs28448343,0.49(T),0.93(D),1.345(L),-1.0596(T),,chr1,248512498,248512498,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln141Arg/c.422A>G|312|OR14C36|protein_coding|CODING|NM_001001918.1|1|1),H1ESC:H3K9me3,,,,0.3538,0.2594,0.1938,0.16,0.11,0.19,,0.300211(N),1.000(P),8.74(T),0.0000(T),0.056,1.305831,4.05,-1.39,-0.560000,-0.119000,-1.082000,0.388000,0.000000,0.000000,1.3952
synonymous_variant,OR14C36,SILENT,NM_001001918.1:p.Cys187Cys/c.561C>T,tgC/tgT,LOW,COSM3751104(2),0.460463,0.4315,rs2039824,,,,,,chr1,248512637,248512637,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys187Cys/c.561C>T|312|OR14C36|protein_coding|CODING|NM_001001918.1|1|1),H1ESC:H3K9me3,,,,0.5409,0.4885,0.5239,0.51,0.40,0.57,,,,,,,,,,,,,,,,
missense_variant,OR14C36,MISSENSE,NM_001001918.1:p.Gly225Arg/c.673G>A,Ggg/Agg,MODERATE,COSM1178408(2),0.460463,0.4315,rs28377739,1(T),0.0(B),-1.8(N),-0.9691(T),,chr1,248512749,248512749,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly225Arg/c.673G>A|312|OR14C36|protein_coding|CODING|NM_001001918.1|1|1),H1ESC:H3K9me3,,,,0.5409,0.4885,0.5239,0.51,0.40,0.57,,0.111462(N),1.000(P),9.06(T),0.0000(T),0.025,-2.203520,3.91,1.2,-1.086000,0.101000,0.145000,0.144000,0.035000,0.000000,6.3589
missense_variant,OR14C36,MISSENSE,NM_001001918.1:p.Asp231Tyr/c.691G>T,Gac/Tac,MODERATE,COSM1178409(2),0.460863,0.4315,rs28545014,0(D),0.987(D),1.175(L),-1.0974(T),,chr1,248512767,248512767,G,T,het,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp231Tyr/c.691G>T|312|OR14C36|protein_coding|CODING|NM_001001918.1|1|1),H1ESC:H3K9me3,,,,0.5409,0.4885,0.5249,0.51,0.40,0.57,,0.163548(N),1.000(P),8.69(T),0.0000(T),0.07,3.232118,3.61,1.55,0.395000,0.183000,0.042000,0.747000,0.000000,0.000000,12.5964
synonymous_variant,OR2T4,SILENT,NM_001004696.1:p.Ala57Ala/c.171A>T,gcA/gcT,LOW,COSM3751105(1),0.294129,0.4276,rs28415565,,,,,,chr1,248525053,248525053,A,T,het,synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala57Ala/c.171A>T|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.364,0.2709,0.1799,,,,,,,,,,,,,,,,,,,
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Cys60Ser/c.178T>A,Tgt/Agt,MODERATE,,0.294928,0.4276,rs28491677,0.04(D),0.006(B),-1.225(N),-0.9501(T),,chr1,248525060,248525060,T,A,het,missense_variant(MODERATE|MISSENSE|Tgt/Agt|p.Cys60Ser/c.178T>A|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.364,0.2709,0.1809,,,,,0.116665(N),1.000(P),4.1(T),0.0000(T),0.089,1.147970,3.48,2.33,-0.510000,0.248000,2.832000,0.025000,0.001000,0.044000,8.6683
synonymous_variant,OR2T4,SILENT,NM_001004696.1:p.Ile63Ile/c.189T>C,atT/atC,LOW,COSM1626979(2),0.346246,0.4385,rs28499298,,,,,,chr1,248525071,248525071,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile63Ile/c.189T>C|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.3845,0.2896,0.1948,,,,,,,,,,,,,,,,,,,
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Ala85Thr/c.253G>A,Gcc/Acc,MODERATE,COSM3746176(2),0.308307,0.3819,rs76721536,0.71(T),0.002(B),0.66(N),-0.9594(T),,chr1,248525135,248525135,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala85Thr/c.253G>A|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.3323,0.2392,0.2207,,,,,0.674147(N),1.000(N),7.42(T),0.0004(T),0.066,0.169426,3.48,-6.95,-0.330000,-0.756000,-2.006000,0.110000,0.000000,0.000000,0.4563
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.His86Tyr/c.256C>T,Cac/Tac,MODERATE,COSM3746177(2),0.307508,0.3819,rs75096121,0(D),0.022(B),2.185(M),-0.9307(T),,chr1,248525138,248525138,C,T,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His86Tyr/c.256C>T|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.3323,0.2392,0.2207,,,,,0.036991(N),1.000(N),5.69(T),0.0038(T),0.253,0.049213,3.48,1.54,0.485000,0.026000,-0.656000,0.153000,0.033000,0.000000,4.5422
synonymous_variant,OR2T4,SILENT,NM_001004696.1:p.His88His/c.264C>T,caC/caT,LOW,COSM3751106(1),,,rs28482938,,,,,,chr1,248525146,248525146,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His88His/c.264C>T|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,,,,0.17,0.19,0.15,,,,,,,,,,,,,,,,
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Ala104Val/c.311C>T,gCg/gTg,MODERATE,,,,rs28655275,0.14(T),0.0(B),0.075(N),-1.0039(T),,chr1,248525193,248525193,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala104Val/c.311C>T|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,,,,0.09,0.03,0.12,,0.048969(N),1.000(P),-1.22(T),0.0000(T),0.047,1.210607,3.48,-3.16,-1.330000,-0.481000,1.283000,0.796000,0.163000,0.147000,6.5165
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Phe135Leu/c.403T>C,Ttc/Ctc,MODERATE,,0.335264,0.4514,rs28637620,1(T),0.001(B),0.81(L),-0.9215(T),,chr1,248525285,248525285,T,C,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe135Leu/c.403T>C|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.3845,0.2824,0.1928,,,,,0.016632(N),1.000(P),4.38(T),0.0000(T),0.163,-2.337549,3.48,1.54,-0.390000,0.021000,-0.558000,0.230000,0.055000,0.000000,6.7611
synonymous_variant,OR2T4,SILENT,NM_001004696.1:p.Tyr136Tyr/c.408C>T,taC/taT,LOW,,0.309305,0.4405,rs202028348,,,,,,chr1,248525290,248525290,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr136Tyr/c.408C>T|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.3773,0.2752,0.1899,,,,,,,,,,,,,,,,,,,
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Val137Leu/c.409G>C,Gtg/Ctg,MODERATE,,0.269169,0.4266,rs28540568,1(T),0.0(B),-1.165(N),-0.9455(T),,chr1,248525291,248525291,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val137Leu/c.409G>C|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.3599,0.2622,0.1779,,,,,0.559502(N),1.000(N),6.6(T),0.0005(T),0.1,-2.634418,3.48,-4.98,-2.152000,-1.051000,-4.322000,0.215000,0.002000,0.000000,7.2077
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Met150Val/c.448A>G,Atg/Gtg,MODERATE,COSM3751107(4),0.271166,0.381,rs56721857,0(D),0.844(P),3.26(M),-1.0899(T),,chr1,248525330,248525330,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met150Val/c.448A>G|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3",,,,0.317,0.2637,0.1779,,,,,0.000023(D),0.959(D),5.46(T),0.0145(T),0.536,3.455416,3.48,3.48,0.397000,1.205000,5.832000,0.769000,0.636000,1.000000,11.6861
synonymous_variant,OR2T4,SILENT,NM_001004696.1:p.Leu255Leu/c.765C>A,ctC/ctA,LOW,COSM3751108(1),0.293131,0.4256,rs28405645,,,,,,chr1,248525647,248525647,C,A,het,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu255Leu/c.765C>A|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),GM12878:H3K36me3,,,,0.362,0.2709,0.1799,0.19,0.24,0.16,,,,,,,,,,,,,,,,
synonymous_variant,OR2T4,SILENT,NM_001004696.1:p.Thr256Thr/c.768C>T,acC/acT,LOW,COSM3751109(1),0.294129,0.4276,rs28602650,,,,,,chr1,248525650,248525650,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr256Thr/c.768C>T|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),GM12878:H3K36me3,,,,0.364,0.2709,0.1799,0.19,0.24,0.16,,,,,,,,,,,,,,,,
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Gly259Arg/c.775G>A,Ggg/Agg,MODERATE,,0.294728,0.4296,rs28718027,1(T),0.001(B),-2.135(N),-0.9661(T),,chr1,248525657,248525657,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly259Arg/c.775G>A|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),GM12878:H3K36me3,,,,0.364,0.2709,0.1799,0.19,0.24,0.16,,0.000181(N),1.000(P),9.06(T),0.0000(T),0.042,-2.467723,3.09,0.223,-0.340000,-0.098000,0.443000,0.114000,0.777000,0.000000,5.6019
missense_variant,OR2T4,MISSENSE,NM_001004696.1:p.Pro300Ser/c.898C>T,Cct/Tct,MODERATE,COSM3751110(1),0.294329,0.4276,rs28698997,0.06(T),0.279(B),1.1(L),-1.1062(T),,chr1,248525780,248525780,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro300Ser/c.898C>T|348|OR2T4|protein_coding|CODING|NM_001004696.1|1|1),GM12878:H3K36me3,,,,0.364,0.2709,0.1799,0.19,0.24,0.16,,0.047579(N),1.000(P),8.6(T),0.0000(T),0.087,1.299887,3.0,0.732,0.585000,0.407000,-0.266000,0.941000,0.953000,0.000000,4.7106
missense_variant,OR2T6,MISSENSE,NM_001005471.1:p.Asn21Asp/c.61A>G,Aat/Gat,MODERATE,COSM3751111(1),0.377396,0.4375,rs7417616,0.03(D),0.0(B),0.6(N),-0.9529(T),,chr1,248550970,248550970,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn21Asp/c.61A>G|308|OR2T6|protein_coding|CODING|NM_001005471.1|1|1),,,,,0.3681,0.3156,0.1769,0.25,0.45,0.15,,0.264518(N),1.000(P),4.09(T),0.0000(T),0.018,1.749870,4.48,-6.15,-1.555000,-1.171000,-3.757000,0.009000,0.000000,0.000000,4.0254
missense_variant,OR2T6,MISSENSE,NM_001005471.1:p.Cys23Gly/c.67T>G,Tgc/Ggc,MODERATE,,0.772764,0.749,rs6587467,0.33(T),0.0(B),-1.1(N),-1.0336(T),,chr1,248550976,248550976,T,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys23Gly/c.67T>G|308|OR2T6|protein_coding|CODING|NM_001005471.1|1|1),,,,,0.8067,0.7406,0.66,0.75,0.85,0.70,,0.040922(N),1.000(P),4.09(T),0.0000(T),0.054,0.461581,4.9,-2.04,-0.132000,-0.662000,-1.583000,0.012000,0.000000,0.000000,4.5913
synonymous_variant,OR2T6,SILENT,NM_001005471.1:p.Thr98Thr/c.294T>C,acT/acC,LOW,COSM3751112(1),0.369409,0.4365,rs6700947,,,,,,chr1,248551203,248551203,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr98Thr/c.294T>C|308|OR2T6|protein_coding|CODING|NM_001005471.1|1|1),,,,,0.3671,0.3127,0.1769,0.25,0.43,0.15,,,,,,,,,,,,,,,,
synonymous_variant,OR2T6,SILENT,NM_001005471.1:p.Ser217Ser/c.651C>T,tcC/tcT,LOW,COSM3751113(1),0.29373,0.4365,rs954474,,,,,,chr1,248551560,248551560,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser217Ser/c.651C>T|308|OR2T6|protein_coding|CODING|NM_001005471.1|1|1),H1ESC:H3K9me3,,,,0.3671,0.2867,0.175,0.17,0.22,0.15,,,,,,,,,,,,,,,,
missense_variant,OR2T6,MISSENSE,NM_001005471.1:p.Ser243Ala/c.727T>G,Tca/Gca,MODERATE,COSM3751114(1),0.369609,0.4365,rs386623335,0(D),1.0(D),2.355(M),-0.9265(T),,chr1,248551636,248551636,T,G,het,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser243Ala/c.727T>G|308|OR2T6|protein_coding|CODING|NM_001005471.1|1|1),H1ESC:H3K9me3,,,,0.3681,0.3127,0.1769,0.25,0.44,0.15,,0.002182(N),1.000(P),1.11(T),0.0000(T),0.105,1.542475,4.02,2.85,0.523000,0.673000,0.605000,0.377000,0.048000,0.237000,6.292
missense_variant,OR2T1,MISSENSE,NM_030904.1:p.His25Arg/c.74A>G,cAt/cGt,MODERATE,,0.326278,0.3135,rs28599722,0.08(T),0.0(B),0(N),-1.0331(T),,chr1,248569369,248569369,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His25Arg/c.74A>G|369|OR2T1|protein_coding|CODING|NM_030904.1|1|1),,,,,0.4836,0.4078,0.503,0.42,0.14,0.56,,,1.000(P),4.21(T),0.0000(T),0.022,0.281939,3.8,1.44,0.528000,0.295000,-0.603000,0.037000,0.002000,0.000000,6.1623
synonymous_variant,OR2T2,SILENT,NM_001004136.1:p.Gln101Gln/c.303G>A,caG/caA,LOW,COSM3997411(1),,,rs77680148,,,,,,chr1,248616401,248616401,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln101Gln/c.303G>A|324|OR2T2|protein_coding|CODING|NM_001004136.1|1|1),"GM12878:H3K27ac,GM12878:H3K36me3,GM12878:H3K79me2,H1ESC:H3K9me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR2T2,MISSENSE,NM_001004136.1:p.Leu104Phe/c.310C>T,Ctc/Ttc,MODERATE,,,,rs113784235,1(T),0.01(B),-0.165(N),-1.0175(T),,chr1,248616408,248616408,C,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu104Phe/c.310C>T|324|OR2T2|protein_coding|CODING|NM_001004136.1|1|1),"GM12878:H3K27ac,GM12878:H3K36me3,GM12878:H3K79me2,H1ESC:H3K9me3,GM06990:H3K36me3",,,,,,,,,,,0.439555(N),1.000(P),6.99(T),0.0006(T),0.146,-2.038068,3.59,-0.635,0.298000,-0.046000,-0.885000,0.224000,0.036000,0.000000,8.1475
synonymous_variant,OR2T3,SILENT,NM_001005495.1:p.Ala237Ala/c.711C>T,gcC/gcT,LOW,,0.382388,0.503,rs77686526,,,,,,chr1,248637362,248637362,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala237Ala/c.711C>T|318|OR2T3|protein_coding|CODING|NM_001005495.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,0.4816,0.3775,0.2604,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR2T3,SILENT,NM_001005495.1:p.Leu255Leu/c.765G>C,ctG/ctC,LOW,COSM3751115(5),0.290136,0.3661,rs75924848,,,,,,chr1,248637416,248637416,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu255Leu/c.765G>C|318|OR2T3|protein_coding|CODING|NM_001005495.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,0.3425,0.2853,0.2097,,,,,,,,,,,,,,,,,,,
missense_variant,OR2T3,MISSENSE,NM_001005495.1:p.Leu256Phe/c.766C>T,Ctc/Ttc,MODERATE,,0.290136,0.3661,rs74711605,1(T),0.001(B),-2.435(N),-0.9630(T),,chr1,248637417,248637417,C,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu256Phe/c.766C>T|318|OR2T3|protein_coding|CODING|NM_001005495.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,0.3425,0.2853,0.2097,,,,,,1.000(N),9.19(T),0.0001(T),0.182,-1.693742,2.37,2.37,-1.455000,0.006000,2.358000,0.007000,0.001000,0.941000,5.7877
missense_variant,OR2T3,MISSENSE,NM_001005495.1:p.Arg298Cys/c.892C>T,Cgc/Tgc,MODERATE,COSM3997418(2),,,rs139993642,0.01(D),0.983(D),2.39(M),-0.9894(T),,chr1,248637543,248637543,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg298Cys/c.892C>T|318|OR2T3|protein_coding|CODING|NM_001005495.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,,,,0.09,0.12,0.08,,,0.848(P),1.03(T),0.0000(T),0.239,2.361258,2.37,-0.64,0.186000,-0.543000,0.085000,0.152000,0.198000,0.005000,7.4986
synonymous_variant,OR2G6,SILENT,NM_001013355.1:p.Tyr102Tyr/c.306T>C,taT/taC,LOW,,0.951877,1,rs9727474,,,,,,chr1,248685253,248685253,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr102Tyr/c.306T>C|316|OR2G6|protein_coding|CODING|NM_001013355.1|1|1),GM12878:H3K36me3,,,,1,0.9899,1,0.95,0.85,1.00,,,,,,,,,,,,,,,,
missense_variant,OR2T29,MISSENSE,NM_001004694.2:p.Lys41Met/c.122A>T,aAg/aTg,MODERATE,COSM3773485(2),0.498003,0.5427,rs140437806,1(T),0.0(B),-2.74(N),-1.0267(T),,chr1,248722671,248722671,T,A,het,missense_variant(MODERATE|MISSENSE|aAg/aTg|p.Lys41Met/c.122A>T|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,0.4785,0.4222,0.338,,,,,0.002609(N),1.000(P),7.45(T),0.0002(T),0.126,-2.755629,2.73,2.73,-1.231000,0.191000,1.554000,0.024000,0.995000,0.001000,6.2239
missense_variant,OR2T29,MISSENSE,NM_001004694.2:p.Gln24Arg/c.71A>G,cAa/cGa,MODERATE,COSM3773486(5),0.598442,0.5228,rs199528787,0.19(T),0.003(B),0.425(N),-1.1360(T),,chr1,248722722,248722722,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln24Arg/c.71A>G|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,0.5276,0.6455,0.7247,,,,,0.233106(N),1.000(P),8.11(T),0.0004(T),0.27,-0.297595,2.73,2.73,0.165000,1.126000,-1.412000,0.103000,0.889000,0.000000,8.6547
synonymous_variant,OR2T29,SILENT,NM_001004694.2:p.Leu18Leu/c.54C>G,ctC/ctG,LOW,,,,rs200935922,,,,,,chr1,248722739,248722739,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu18Leu/c.54C>G|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR2T29,MISSENSE,NM_001004694.2:p.Leu14Ser/c.41T>C,tTg/tCg,MODERATE,,,,,1(T),0.0(B),-1.005(N),-0.9709(T),,chr1,248722752,248722752,A,G,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu14Ser/c.41T>C|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,,,,,,,,0.134499(N),1.000(N),7.38(T),0.0003(T),0.048,-2.318749,2.4,-2.68,-1.026000,-1.469000,-1.240000,0.010000,0.000000,0.000000,5.5944
missense_variant,OR2T29,MISSENSE,NM_001004694.2:p.Arg13Trp/c.37A>T,Agg/Tgg,MODERATE,,,,,0.18(T),0.0(B),-0.11(N),-0.9610(T),,chr1,248722756,248722756,T,A,het,missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg13Trp/c.37A>T|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,,,,,,,,0.000905(N),1.000(N),4.08(T),0.0063(T),0.097,-0.297967,2.3,-4.6,-3.116000,-4.168000,-1.034000,0.005000,0.000000,0.000000,1.7294
missense_variant,OR2T29,MISSENSE,NM_001004694.2:p.Asn9Ser/c.26A>G,aAc/aGc,MODERATE,,,,,0.01(D),0.033(B),2.695(M),-0.7656(T),,chr1,248722767,248722767,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn9Ser/c.26A>G|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.383398(N),1.000(N),-0.07(T),0.2283(T),0.049,0.396053,2.34,1.05,-3.178000,-0.216000,0.261000,0.002000,0.058000,0.370000,3.485
missense_variant,OR2T29,MISSENSE,NM_001004694.2:p.Arg6Trp/c.16A>T,Agg/Tgg,MODERATE,COSM3997429(1),,,rs77589892,0.43(T),,1.15(L),-1.2513(T),,chr1,248722777,248722777,T,A,het,missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg6Trp/c.16A>T|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,,,,0.35,0.58,0.24,,0.412838(N),1.000(P),7.23(T),0.0000(T),0.042,0.707330,2.34,-0.604,-4.084000,-0.193000,-0.533000,0.012000,0.001000,0.000000,7.9651
missense_variant,OR2T29,MISSENSE,NM_001004694.2:p.Ala2Asp/c.5C>A,gCc/gAc,MODERATE,,,,,1(T),,0(N),-0.9483(T),,chr1,248722788,248722788,G,T,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala2Asp/c.5C>A|315|OR2T29|protein_coding|CODING|NM_001004694.2|1|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.486741(N),1.000(N),4.78(T),0.0036(T),0.103,-0.958141,2.34,1.12,0.134000,0.166000,0.070000,0.156000,0.079000,0.004000,7.418
missense_variant,OR2T34,MISSENSE,NM_001001821.1:p.Ala244Thr/c.730G>A,Gcc/Acc,MODERATE,COSM3997431(1),,,rs75095367,0.32(T),0.122(B),0.68(N),-1.1960(T),,chr1,248737329,248737329,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala244Thr/c.730G>A|318|OR2T34|protein_coding|CODING|NM_001001821.1|1|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,,,,0.13,0.21,0.09,,,1.000(P),8.78(T),0.0000(T),0.029,-0.263225,2.37,0.0258,0.123000,0.208000,0.078000,0.327000,0.422000,0.008000,4.2667
missense_variant,OR2T34,MISSENSE,NM_001001821.1:p.Met202Thr/c.605T>C,aTg/aCg,MODERATE,COSM3751116(2),,,rs79750523,1(T),0.001(B),0.07(N),-0.9941(T),,chr1,248737454,248737454,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met202Thr/c.605T>C|318|OR2T34|protein_coding|CODING|NM_001001821.1|1|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,,,,0.07,0.08,0.07,,,1.000(N),8.8(T),0.0000(T),0.019,-2.867633,2.37,-4.74,-1.839000,-2.576000,0.183000,0.069000,0.001000,0.000000,5.5169
missense_variant,OR2T34,MISSENSE,NM_001001821.1:p.Phe183Leu/c.547T>C,Ttc/Ctc,MODERATE,,0.00219649,0,rs148006635,0.03(D),0.956(D),2.575(M),-0.9201(T),,chr1,248737512,248737512,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe183Leu/c.547T>C|318|OR2T34|protein_coding|CODING|NM_001001821.1|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,GM06990:H3K36me3",,,,0,0.0029,0.0089,0.00,0.00,0.00,,,1.000(N),8.52(T),0.0016(T),0.199,2.943643,2.37,2.37,0.104000,0.964000,3.736000,0.006000,0.112000,0.999000,9.2409
missense_variant,OR2T11,MISSENSE,NM_001001964.1:p.Gln309Arg/c.926A>G,cAg/cGg,MODERATE,,0.95607,1,rs1892442,0.28(T),0.002(B),1.005(L),-1.0352(T),,chr1,248789504,248789504,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln309Arg/c.926A>G|316|OR2T11|protein_coding|CODING|NM_001001964.1|1|1),"H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9928,0.9841,0.9861,0.95,0.86,0.99,,0.168893(N),1.000(P),1.3(T),0.0000(T),0.065,-0.432798,4.09,1.7,-1.042000,-0.050000,-0.654000,0.009000,0.133000,0.001000,7.7294
missense_variant,OR2T11,MISSENSE,NM_001001964.1:p.Pro226Arg/c.677C>G,cCc/cGc,MODERATE,COSM3997433(1),0.0808706,0.2242,rs28555577,1(T),0.0(B),0.315(N),-1.0243(T),,chr1,248789753,248789753,G,C,het,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro226Arg/c.677C>G|316|OR2T11|protein_coding|CODING|NM_001001964.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0225,0.0735,0.0746,0.08,0.04,0.09,,0.015423(N),1.000(P),1.25(T),0.0000(T),0.021,-2.250424,4.24,-1.14,-0.729000,-0.423000,-3.596000,0.008000,0.783000,0.000000,1.6102
missense_variant,OR2T11,MISSENSE,NM_001001964.1:p.Cys119Arg/c.355T>C,Tgc/Cgc,MODERATE,,0.912939,1,rs1892443,1(T),0.0(B),-2.925(N),-1.0218(T),,chr1,248790075,248790075,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys119Arg/c.355T>C|316|OR2T11|protein_coding|CODING|NM_001001964.1|1|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9928,0.9741,0.9861,0.90,0.72,0.99,,0.000456(N),0.531(P),3.55(T),0.0000(T),0.017,-2.770648,4.38,2.4,-0.119000,0.487000,-0.032000,0.048000,0.939000,0.843000,4.735
missense_variant,OR2T11,MISSENSE,NM_001001964.1:p.Ile88Thr/c.263T>C,aTc/aCc,MODERATE,COSM3997434(1),0.0800719,0.2242,rs34397542,0.51(T),0.0(B),-2.05(N),-1.0883(T),,chr1,248790167,248790167,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile88Thr/c.263T>C|316|OR2T11|protein_coding|CODING|NM_001001964.1|1|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0225,0.0735,0.0775,0.08,0.04,0.10,,0.016714(N),1.000(P),6.89(T),0.0000(T),0.046,-1.393592,4.62,2.7,-0.119000,0.553000,-1.909000,0.611000,0.996000,0.000000,5.0576
synonymous_variant,OR2T11,SILENT,NM_001001964.1:p.Lys77Lys/c.231A>G,aaA/aaG,LOW,,0.0808706,0.2242,rs34674180,,,,,,chr1,248790199,248790199,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys77Lys/c.231A>G|316|OR2T11|protein_coding|CODING|NM_001001964.1|1|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0225,0.0735,0.0775,0.08,0.04,0.10,,,,,,,,,,,,,,,,
synonymous_variant,OR2T35,SILENT,NM_001001827.1:p.Ile221Ile/c.663C>T,atC/atT,LOW,COSM118819(2),,,rs79303917,,,,,,chr1,248801897,248801897,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile221Ile/c.663C>T|323|OR2T35|protein_coding|CODING|NM_001001827.1|1|1),"GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,0.08,0.03,0.10,,,,,,,,,,,,,,,,
missense_variant,OR2T27,MISSENSE,NM_001001824.1:p.Lys45Met/c.134A>T,aAg/aTg,MODERATE,COSM3746906(3),,,rs28533004,1(T),0.0(B),-3.355(N),-1.0098(T),,chr1,248814052,248814052,T,A,het,missense_variant(MODERATE|MISSENSE|aAg/aTg|p.Lys45Met/c.134A>T|317|OR2T27|protein_coding|CODING|NM_001001824.1|1|1),,,,,,,,,,,,0.000198(N),1.000(P),7.91(T),0.0000(T),0.244,-2.110494,3.3,3.3,-1.235000,0.470000,2.940000,0.018000,0.828000,0.022000,8.1814
missense_variant,OR2T27,MISSENSE,NM_001001824.1:p.Leu36Val/c.106T>G,Ttg/Gtg,MODERATE,,0.944688,1,rs1782242,0.24(T),0.004(B),,-1.0657(T),,chr1,248814080,248814080,A,C,hom,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu36Val/c.106T>G|317|OR2T27|protein_coding|CODING|NM_001001824.1|1|1),,,,,1,0.9769,0.996,,,,,0.213907(N),1.000(P),2.32(T),0.0000(T),0.137,-1.043701,3.3,-2.51,-1.045000,-0.773000,-1.491000,0.040000,0.000000,0.000000,1.2168
synonymous_variant,OR2T27,SILENT,NM_001001824.1:p.Asn20Asn/c.60C>T,aaC/aaT,LOW,,,,rs28418327,,,,,,chr1,248814126,248814126,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn20Asn/c.60C>T|317|OR2T27|protein_coding|CODING|NM_001001824.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR14I1,MISSENSE,NM_001004734.1:p.Ser170Asn/c.509G>A,aGt/aAt,MODERATE,,0.751797,0.872,rs2000390,1(T),0.001(B),-2.945(N),-0.9054(T),,chr1,248845097,248845097,C,T,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser170Asn/c.509G>A|311|OR14I1|protein_coding|CODING|NM_001004734.1|1|1),H1ESC:H3K9me3,,,,0.8558,0.8703,0.8777,0.75,0.50,0.88,,0.113574(N),1.000(P),9.04(T),0.0000(T),0.006,-1.168342,3.49,-3.92,-0.408000,-1.261000,-0.493000,0.055000,0.000000,0.000000,7.1684
synonymous_variant,OR14I1,SILENT,NM_001004734.1:p.Ser65Ser/c.195C>T,tcC/tcT,LOW,,0.773163,0.872,rs11485825,,,,,,chr1,248845411,248845411,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser65Ser/c.195C>T|311|OR14I1|protein_coding|CODING|NM_001004734.1|1|1),H1ESC:H3K9me3,,,,0.8538,0.8775,0.8787,0.77,0.56,0.88,,,,,,,,,,,,,,,,
missense_variant,OR14I1,MISSENSE,NM_001004734.1:p.Asp50Asn/c.148G>A,Gat/Aat,MODERATE,,0.746406,0.872,rs4509608,0.06(T),0.624(P),2.6(M),-1.0592(T),,chr1,248845458,248845458,C,T,hom,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp50Asn/c.148G>A|311|OR14I1|protein_coding|CODING|NM_001004734.1|1|1),H1ESC:H3K9me3,,,,0.862,0.866,0.8857,0.74,0.46,0.88,,0.041860(N),1.000(P),5.55(T),0.0000(T),0.028,2.455509,3.2,1.19,0.536000,0.512000,-1.441000,0.008000,0.001000,0.000000,5.4331
synonymous_variant,OR14I1,SILENT,NM_001004734.1:p.Ala45Ala/c.135A>G,gcA/gcG,LOW,,0.874002,1,rs4575113,,,,,,chr1,248845471,248845471,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala45Ala/c.135A>G|311|OR14I1|protein_coding|CODING|NM_001004734.1|1|1),,,,,0.999,0.9539,0.996,0.86,0.61,0.99,,,,,,,,,,,,,,,,
missense_variant,OR14I1,MISSENSE,NM_001004734.1:p.Val36Ala/c.107T>C,gTg/gCg,MODERATE,,0.907149,1,rs4462184,1(T),0.0(B),-2.28(N),-1.0561(T),,chr1,248845499,248845499,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val36Ala/c.107T>C|311|OR14I1|protein_coding|CODING|NM_001004734.1|1|1),,,,,1,0.9669,0.997,0.90,0.72,1.00,,0.009727(N),1.000(P),6.44(T),0.0000(T),0.026,-1.248299,3.35,1.38,-0.260000,-0.156000,0.881000,0.048000,0.000000,0.001000,5.0148
missense_variant,FAM110C,MISSENSE,NM_001077710.2:p.Ile164Thr/c.491T>C,aTc/aCc,MODERATE,COSM3749666(5),0.999201,1,rs4241318,0.74(T),0.0(B),0(N),-0.9803(T),,chr2,45895,45895,A,G,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile164Thr/c.491T>C|321|FAM110C|protein_coding|CODING|NM_001077710.2|1|1),"NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,1,1,0.996,1.00,1.00,1.00,,0.000000(N),1.000(P),1.54(T),0.0000(T),0.018,0.157575,3.58,2.7,-0.222000,0.330000,-0.401000,0.000000,0.001000,0.000000,6.0655
synonymous_variant,SH3YL1,SILENT,NM_015677.3:p.Asp321Asp/c.963T>C,gaT/gaC,LOW,,,,rs371628585,,,,,,chr2,218877,218877,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp302Asp/c.906T>C|323|SH3YL1|protein_coding|CODING|NM_001159597.2|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp206Asp/c.618T>C|227|SH3YL1|protein_coding|CODING|NM_001282682.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp225Asp/c.675T>C|246|SH3YL1|protein_coding|CODING|NM_001282687.1|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp321Asp/c.963T>C|342|SH3YL1|protein_coding|CODING|NM_015677.3|10|1),non_coding_exon_variant(MODIFIER|||n.2635T>C||SH3YL1||CODING|NR_104223.1|12|1),non_coding_exon_variant(MODIFIER|||n.1267T>C||SH3YL1||CODING|NR_104225.1|10|1),non_coding_exon_variant(MODIFIER|||n.1739T>C||SH3YL1||CODING|NR_104226.1|11|1),non_coding_exon_variant(MODIFIER|||n.2561T>C||SH3YL1||CODING|NR_104227.1|11|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
start_lost,SH3YL1,MISSENSE,NM_001282687.1:p.Met1?/c.1A>G,Atg/Gtg,HIGH,,0.325479,0.5843,rs10181051,0(D),".,0.043(.,B)",,-0.9754(T),SH3YL1:0.22(9);,chr2,242800,242800,T,C,het,"start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|227|SH3YL1|protein_coding|CODING|NM_001282682.1|6|1),start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|246|SH3YL1|protein_coding|CODING|NM_001282687.1|6|1),splice_region_variant(LOW|||c.1A>G|227|SH3YL1|protein_coding|CODING|NM_001282682.1|6|1),splice_region_variant(LOW|||c.1A>G|246|SH3YL1|protein_coding|CODING|NM_001282687.1|6|1),splice_region_variant(LOW|||n.1468A>G||SH3YL1||CODING|NR_104227.1|6|1),intron_variant(MODIFIER|||n.1124+703A>G||SH3YL1||CODING|NR_104226.1|6|1),intron_variant(MODIFIER|||c.291+4738A>G|323|SH3YL1|protein_coding|CODING|NM_001159597.2|4|1),intron_variant(MODIFIER|||c.291+4738A>G|342|SH3YL1|protein_coding|CODING|NM_015677.3|4|1),intron_variant(MODIFIER|||n.1963+4738A>G||SH3YL1||CODING|NR_104223.1|6|1),intron_variant(MODIFIER|||n.599+4738A>G||SH3YL1||CODING|NR_104225.1|4|1),intron_variant(MODIFIER|||n.592-624A>G||SH3YL1||CODING|NR_104224.1|6|1),non_coding_exon_variant(MODIFIER|||n.1468A>G||SH3YL1||CODING|NR_104227.1|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2587,0.2752,0.3926,0.32,0.19,0.39,,,0.000(P),"2.25,2.25,2.25(T,T,T)",0.0000(T),0.206,-0.201798,0.13,0.13,0.157000,0.159000,0.208000,0.573000,0.576000,0.444000,.
synonymous_variant,ACP1,SILENT,NM_004300.3:p.Ser44Ser/c.132C>T,agC/agT,LOW,COSM3758165(1),0.0167732,0,rs11553742,,,,,,chr2,272051,272051,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser44Ser/c.132C>T|158|ACP1|protein_coding|CODING|NM_004300.3|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser44Ser/c.132C>T|112|ACP1|protein_coding|CODING|NM_001040649.2|3|1),intron_variant(MODIFIER|||c.117+112C>T|158|ACP1|protein_coding|CODING|NM_007099.3|2|1),non_coding_exon_variant(MODIFIER|||n.228C>T||ACP1||CODING|NR_024080.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K79me2,GM06990:H3K36me3",,,,0,0.0317,0.0586,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,ACP1,MISSENSE,NM_001040649.2:p.Thr95Ile/c.284C>T,aCa/aTa,MODERATE,,0.243411,0.249,rs11553746,0.13(T),0.996(D),,-1.1293(T),,chr2,272203,272203,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr95Ile/c.284C>T|112|ACP1|protein_coding|CODING|NM_001040649.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp43Asp/c.129C>T|158|ACP1|protein_coding|CODING|NM_007099.3|3|1),intron_variant(MODIFIER|||c.231+53C>T|158|ACP1|protein_coding|CODING|NM_004300.3|3|1),non_coding_exon_variant(MODIFIER|||n.254C>T||ACP1||CODING|NR_024080.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K79me2,GM06990:H3K36me3",,,,0.3078,0.232,0.334,0.29,0.17,0.34,,,0.000(P),"0.91,0.84(T,T)",0.0000(T),.,3.419926,5.87,5.87,0.655000,2.779000,5.667000,0.998000,1.000000,1.000000,17.6971
missense_variant,ACP1,MISSENSE,NM_004300.3:p.Gln106Arg/c.317A>G,cAa/cGa,MODERATE,,0.264177,0.246,rs79716074,0.38(T),"0.003,0.011(B,B)",-0.055(N),-0.8914(T),,chr2,277003,277003,A,G,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln106Arg/c.317A>G|158|ACP1|protein_coding|CODING|NM_004300.3|5|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln106Arg/c.317A>G|158|ACP1|protein_coding|CODING|NM_007099.3|5|1),non_coding_exon_variant(MODIFIER|||n.442A>G||ACP1||CODING|NR_024080.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000014681.1,,0.3078,0.2363,0.335,0.30,0.22,0.34,,0.011622(N),0.000(P),"2.34,2.34(T,T)",0.0000(T),0.612,1.595656,5.48,3.09,0.533000,0.370000,2.840000,0.999000,1.000000,1.000000,6.7926
synonymous_variant,SNTG2,SILENT,NM_018968.3:p.Gly63Gly/c.189C>T,ggC/ggT,LOW,COSM4132951(1),0.669129,0.6796,rs4971432,,,,,,chr2,1079320,1079320,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly63Gly/c.189C>T|539|SNTG2|protein_coding|CODING|NM_018968.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5838,0.7839,0.8022,0.73,0.61,0.78,,,,,,,,,,,,,,,,
missense_variant,SNTG2,MISSENSE,NM_018968.3:p.Thr495Met/c.1484C>T,aCg/aTg,MODERATE,,0.505391,0.4395,rs4927635,0.43(T),"0.006,0.002(B,B)",-0.29(N),-0.9055(T),,chr2,1320143,1320143,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr495Met/c.1484C>T|539|SNTG2|protein_coding|CODING|NM_018968.3|16|1),HepG2:H3K27me3,,,,0.593,0.5303,0.5378,0.50,0.45,0.52,,0.000528(N),0.452(P),"-0.67,-0.67(T,T)",0.0000(T),0.044,0.108478,4.52,-0.929,-0.140000,-0.496000,1.212000,0.424000,0.935000,1.000000,11.0881
synonymous_variant,TPO,SILENT,NM_000547.5:p.Leu4Leu/c.12C>G,ctC/ctG,LOW,COSM1399678(1),0.311701,0.2361,rs9678281,,,,,,chr2,1418192,1418192,C,G,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4Leu/c.12C>G|933|TPO|protein_coding|CODING|NM_000547.5|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4Leu/c.12C>G|933|TPO|protein_coding|CODING|NM_001206744.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4Leu/c.12C>G|876|TPO|protein_coding|CODING|NM_001206745.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4Leu/c.12C>G|876|TPO|protein_coding|CODING|NM_175719.3|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4Leu/c.12C>G|889|TPO|protein_coding|CODING|NM_175721.3|1|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4Leu/c.12C>G|760|TPO|protein_coding|CODING|NM_175722.3|1|1)",HepG2:H3K27me3,,,,0.316,0.3703,0.3887,0.36,0.29,0.39,,,,,,,,,,,,,,,,
missense_variant,TPO,MISSENSE,NM_000547.5:p.Pro135His/c.404C>A,cCt/cAt,MODERATE,,0.00878594,0.001,rs61758083,0.51(T),"0.969,0.982,0.992,0.983,0.931(D,D,D,D,D)",1.995(M),-0.7658(T),,chr2,1440078,1440078,C,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro135His/c.404C>A|933|TPO|protein_coding|CODING|NM_000547.5|5|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro135His/c.404C>A|933|TPO|protein_coding|CODING|NM_001206744.1|5|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro135His/c.404C>A|876|TPO|protein_coding|CODING|NM_001206745.1|5|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro135His/c.404C>A|876|TPO|protein_coding|CODING|NM_175719.3|5|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro135His/c.404C>A|889|TPO|protein_coding|CODING|NM_175721.3|4|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro135His/c.404C>A|760|TPO|protein_coding|CODING|NM_175722.3|4|1)","HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.044,0,0,0.00,0.00,0.00,,0.000339(D),0.938(N),"0.4,0.4,0.4,0.4,0.4,0.4,0.4,0.4,0.4,0.4,0.4(T,T,T,T,T,T,T,T,T,T,T)",0.2702(T),0.518,0.631874,5.35,5.35,0.313000,2.500000,1.997000,0.024000,0.559000,0.947000,12.3394
missense_variant,TPO,MISSENSE,NM_000547.5:p.Ala257Ser/c.769G>T,Gct/Tct,MODERATE,,0.365415,0.1825,rs4927611,0.08(T),"0.407,0.173,0.026,0.065(B,B,B,B)",1.215(L),-1.0366(T),,chr2,1460004,1460004,G,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala257Ser/c.769G>T|933|TPO|protein_coding|CODING|NM_000547.5|7|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala257Ser/c.769G>T|933|TPO|protein_coding|CODING|NM_001206744.1|7|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala257Ser/c.769G>T|876|TPO|protein_coding|CODING|NM_001206745.1|7|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala257Ser/c.769G>T|876|TPO|protein_coding|CODING|NM_175719.3|7|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala257Ser/c.769G>T|889|TPO|protein_coding|CODING|NM_175721.3|6|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala257Ser/c.769G>T|760|TPO|protein_coding|CODING|NM_175722.3|6|1)",,,,,0.5153,0.3674,0.3668,0.38,0.38,0.38,,0.667134(N),1.000(P),"-0.72,-0.72,-0.72,-0.72,-0.72,-0.72,-0.72,-0.72(T,T,T,T,T,T,T,T)",0.0000(T),0.054,0.517173,4.81,0.493,0.563000,0.121000,1.055000,0.072000,0.000000,0.001000,9.7845
missense_variant,TPO,MISSENSE,NM_000547.5:p.Ala373Ser/c.1117G>T,Gcg/Tcg,MODERATE,COSM3749597(4),0.408147,0.5228,rs2280132,0.93(T),"0.007,0.007,0.012(B,B,B)",-1.125(N),-0.9908(T),,chr2,1481155,1481155,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala373Ser/c.1117G>T|933|TPO|protein_coding|CODING|NM_000547.5|8|1),missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala373Ser/c.1117G>T|933|TPO|protein_coding|CODING|NM_001206744.1|8|1),missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala373Ser/c.1117G>T|876|TPO|protein_coding|CODING|NM_001206745.1|8|1),missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala373Ser/c.1117G>T|876|TPO|protein_coding|CODING|NM_175719.3|8|1),missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala373Ser/c.1117G>T|889|TPO|protein_coding|CODING|NM_175721.3|7|1),intron_variant(MODIFIER|||c.820-7213G>T|760|TPO|protein_coding|CODING|NM_175722.3|6|1)",HepG2:H3K27me3,,,,0.318,0.4856,0.4463,0.41,0.32,0.45,,0.078413(N),0.998(P),"-0.16,-0.16,-0.16,-0.16,-0.16,-0.16(T,T,T,T,T,T)",0.0000(T),0.044,-0.827268,4.81,-1.27,0.460000,-0.259000,0.173000,0.308000,0.089000,0.000000,2.1535
missense_variant,TPO,MISSENSE,NM_000547.5:p.Ser398Thr/c.1193G>C,aGc/aCc,MODERATE,COSM1579950(4),0.710264,0.7758,rs2175977,0.1(T),,1.935(M),-0.9991(T),,chr2,1481231,1481231,G,C,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser398Thr/c.1193G>C|933|TPO|protein_coding|CODING|NM_000547.5|8|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser398Thr/c.1193G>C|933|TPO|protein_coding|CODING|NM_001206744.1|8|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser398Thr/c.1193G>C|876|TPO|protein_coding|CODING|NM_001206745.1|8|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser398Thr/c.1193G>C|876|TPO|protein_coding|CODING|NM_175719.3|8|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser398Thr/c.1193G>C|889|TPO|protein_coding|CODING|NM_175721.3|7|1),intron_variant(MODIFIER|||c.820-7137G>C|760|TPO|protein_coding|CODING|NM_175722.3|6|1)",HepG2:H3K27me3,,,,0.6442,0.6571,0.6034,0.78,0.86,0.74,,,0.000(P),,0.0000(T),.,3.683431,4.99,4.08,0.460000,1.031000,1.297000,0.986000,1.000000,0.956000,8.6411
synonymous_variant,TPO,SILENT,NM_000547.5:p.Asp666Asp/c.1998C>T,gaC/gaT,LOW,COSM3757660(2),0.359026,0.4067,rs1126797,,,,-1.0366(T),,chr2,1497803,1497803,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp666Asp/c.1998C>T|933|TPO|protein_coding|CODING|NM_000547.5|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp666Asp/c.1998C>T|933|TPO|protein_coding|CODING|NM_001206744.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp609Asp/c.1827C>T|876|TPO|protein_coding|CODING|NM_001206745.1|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp609Asp/c.1827C>T|876|TPO|protein_coding|CODING|NM_175719.3|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp666Asp/c.1998C>T|889|TPO|protein_coding|CODING|NM_175721.3|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp493Asp/c.1479C>T|760|TPO|protein_coding|CODING|NM_175722.3|9|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.3528,0.3689,0.3688,0.35,0.32,0.37,,,0.000(P),,0.0000(T),.,-1.159934,4.84,-9.63,-0.995000,-1.948000,-4.038000,0.038000,0.103000,0.000000,9.8612
synonymous_variant,TPO,SILENT,NM_000547.5:p.Pro715Pro/c.2145C>T,ccC/ccT,LOW,COSM3757666(4),0.438898,0.4087,rs732608,0(D),,,-0.9994(T),,chr2,1499899,1499899,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro715Pro/c.2145C>T|933|TPO|protein_coding|CODING|NM_000547.5|12|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro715Pro/c.2145C>T|933|TPO|protein_coding|CODING|NM_001206744.1|12|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro658Pro/c.1974C>T|876|TPO|protein_coding|CODING|NM_001206745.1|11|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro658Pro/c.1974C>T|876|TPO|protein_coding|CODING|NM_175719.3|11|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro715Pro/c.2145C>T|889|TPO|protein_coding|CODING|NM_175721.3|11|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro542Pro/c.1626C>T|760|TPO|protein_coding|CODING|NM_175722.3|10|1)",HepG2:H3K27me3,,,,0.5225,0.4265,0.4016,0.41,0.44,0.40,,0.000001(D),0.000(P),-0.65(T),0.0000(T),.,-1.379854,4.59,-5.71,-1.066000,-1.146000,-1.559000,0.002000,0.003000,0.000000,2.7509
missense_variant,TPO,MISSENSE,NM_000547.5:p.Thr725Pro/c.2173A>C,Act/Cct,MODERATE,COSM3812428(2),0.498403,0.4087,rs732609,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.755(N),-0.9132(T),,chr2,1499927,1499927,A,C,het,"missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr725Pro/c.2173A>C|933|TPO|protein_coding|CODING|NM_000547.5|12|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr725Pro/c.2173A>C|933|TPO|protein_coding|CODING|NM_001206744.1|12|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr668Pro/c.2002A>C|876|TPO|protein_coding|CODING|NM_001206745.1|11|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr668Pro/c.2002A>C|876|TPO|protein_coding|CODING|NM_175719.3|11|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr725Pro/c.2173A>C|889|TPO|protein_coding|CODING|NM_175721.3|11|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr552Pro/c.1654A>C|760|TPO|protein_coding|CODING|NM_175722.3|10|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5276,0.438,0.4026,0.47,0.61,0.40,,0.000016(N),0.000(P),"-0.5,-0.5,-0.5,-0.5,-0.5,-0.5,-0.5,-0.5,-0.5(T,T,T,T,T,T,T,T,T)",0.0000(T),0.408,-1.590934,4.39,4.39,-0.217000,0.993000,3.471000,0.004000,0.103000,0.985000,11.1959
missense_variant,TPO,MISSENSE,NM_000547.5:p.Val847Ala/c.2540T>C,gTg/gCg,MODERATE,COSM3927753(3),0.663938,0.5833,rs1126799,1(T),"0.0,0.001,0.001,0.0(B,B,B,B)",-1.645(N),-1.0082(T),,chr2,1520676,1520676,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val847Ala/c.2540T>C|933|TPO|protein_coding|CODING|NM_000547.5|15|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val847Ala/c.2540T>C|933|TPO|protein_coding|CODING|NM_001206744.1|15|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val790Ala/c.2369T>C|876|TPO|protein_coding|CODING|NM_001206745.1|14|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val790Ala/c.2369T>C|876|TPO|protein_coding|CODING|NM_175719.3|14|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val803Ala/c.2408T>C|889|TPO|protein_coding|CODING|NM_175721.3|13|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val674Ala/c.2021T>C|760|TPO|protein_coding|CODING|NM_175722.3|13|1)","CD4:H4K91ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6933,0.6037,0.5417,0.61,0.77,0.53,,0.991268(N),0.993(P),"-0.13,-0.12,-0.06,0.16,-0.12,-0.07,0.16,-0.12,0.71,-0.3(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.482,-1.960539,5.52,4.6,-0.124000,1.364000,0.609000,0.001000,0.064000,0.164000,8.8585
synonymous_variant,PXDN,SILENT,NM_012293.2:p.Val1307Val/c.3921A>G,gtA/gtG,LOW,,0.907748,0.999,rs6730800,,,,,,chr2,1647171,1647171,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1307Val/c.3921A>G|1479|PXDN|protein_coding|CODING|NM_012293.2|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9775,0.9568,0.8926,0.86,0.80,0.89,,,,,,,,,,,,,,,,
synonymous_variant,PXDN,SILENT,NM_012293.2:p.Asn964Asn/c.2892C>T,aaC/aaT,LOW,COSM3757715(3),0.244808,0.2847,rs3811613,,,,,,chr2,1652660,1652660,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn964Asn/c.2892C>T|1479|PXDN|protein_coding|CODING|NM_012293.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3129,0.2709,0.2823,0.25,0.15,0.30,,,,,,,,,,,,,,,,
synonymous_variant,PXDN,SILENT,NM_012293.2:p.Ile910Ile/c.2730A>C,atA/atC,LOW,,0.935503,0.999,rs1863135,,,,,,chr2,1652822,1652822,T,G,hom,synonymous_variant(LOW|SILENT|atA/atC|p.Ile910Ile/c.2730A>C|1479|PXDN|protein_coding|CODING|NM_012293.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.9775,0.964,0.8936,0.90,0.90,0.90,,,,,,,,,,,,,,,,
synonymous_variant,MYT1L,SILENT,NM_015025.2:p.Gly1009Gly/c.3027A>G,ggA/ggG,LOW,COSM4133320(1),0.456669,0.6558,rs6728368,,,,,,chr2,1842968,1842968,T,C,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1009Gly/c.3027A>G|1184|MYT1L|protein_coding|CODING|NM_015025.2|21|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.365,0.3141,0.3121,0.43,0.62,0.34,,,,,,,,,,,,,,,,
synonymous_variant,MYT1L,SILENT,NM_015025.2:p.Pro368Pro/c.1104C>A,ccC/ccA,LOW,,0.991214,1,rs1529667,,,,,,chr2,1926437,1926437,G,T,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro368Pro/c.1104C>A|1184|MYT1L|protein_coding|CODING|NM_015025.2|10|1),HepG2:H3K27me3,,,,0.9949,0.9813,0.9761,0.98,0.99,0.97,,,,,,,,,,,,,,,,
synonymous_variant,MYT1L,SILENT,NM_015025.2:p.Asn308Asn/c.924C>T,aaC/aaT,LOW,COSM4001453(1),0.0325479,0.0308,rs2241686,,,,,,chr2,1926617,1926617,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn308Asn/c.924C>T|1184|MYT1L|protein_coding|CODING|NM_015025.2|10|1),HepG2:H3K27me3,,,,0.1074,0.0072,0.0209,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,MYT1L,SILENT,NM_015025.2:p.Asp115Asp/c.345T>C,gaT/gaC,LOW,COSM3757856(1),0.510783,0.6448,rs111154908,,,,,,chr2,1946914,1946914,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp115Asp/c.345T>C|1184|MYT1L|protein_coding|CODING|NM_015025.2|9|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3691,0.3329,0.3708,0.43,0.60,0.33,,,,,,,,,,,,,,,,
synonymous_variant,TRAPPC12,SILENT,NM_016030.5:p.Phe227Phe/c.681T>C,ttT/ttC,LOW,COSM442850(4),0.653754,0.6806,rs10865541,,,,,,chr2,3392075,3392075,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe227Phe/c.681T>C|735|TRAPPC12|protein_coding|CODING|NM_016030.5|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Obesity_related_traits,,,0.6748,0.5,0.6183,0.62,0.70,0.58,,,,,,,,,,,,,,,,
missense_variant,TRAPPC12,MISSENSE,NM_016030.5:p.Ser301Gly/c.901A>G,Agc/Ggc,MODERATE,COSM442851(2),0.467851,0.6081,rs11686212,0.02(D),"0.787,0.777,0.969(P,P,D)",2.215(M),-0.8537(T),,chr2,3392295,3392295,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser301Gly/c.901A>G|735|TRAPPC12|protein_coding|CODING|NM_016030.5|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5695,0.3141,0.4006,0.39,0.41,0.37,,0.000000(D),0.000(P),"0.24,0.24(T,T)",0.0000(T),0.258,4.889728,5.07,5.07,0.459000,2.248000,8.568000,0.992000,0.998000,1.000000,14.4554
synonymous_variant,TRAPPC12,SILENT,NM_016030.5:p.Leu591Leu/c.1773G>C,ctG/ctC,LOW,COSM3758215(1),0.415335,0.3601,rs386467840,,,,-0.9899(T),,chr2,3469463,3469463,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu591Leu/c.1773G>C|735|TRAPPC12|protein_coding|CODING|NM_016030.5|9|1),"H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K4me1,HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:DNase1,GM06990:H3K36me3",,,,0.41,0.3285,0.4473,0.43,0.46,0.42,,,0.000(P),,0.0000(T),.,2.257146,5.65,-10.7,0.655000,-2.368000,-0.650000,0.957000,0.430000,0.166000,2.9671
synonymous_variant,TRAPPC12,SILENT,NM_016030.5:p.Phe727Phe/c.2181C>T,ttC/ttT,LOW,COSM3758217(1),0.485423,0.4653,rs6767,,,,,,chr2,3483205,3483205,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe727Phe/c.2181C>T|735|TRAPPC12|protein_coding|CODING|NM_016030.5|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5133,0.353,0.4185,0.45,0.56,0.39,,,0.000(P),,,.,1.098402,5.09,-1.12,-1.213000,-0.489000,0.604000,0.918000,0.968000,0.999000,10.8795
synonymous_variant,ADI1,SILENT,NM_018269.3:p.Asp106Asp/c.318T>C,gaT/gaC,LOW,COSM148794(3),0.533546,0.4484,rs9950,,,,,,chr2,3504687,3504687,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp106Asp/c.318T>C|179|ADI1|protein_coding|CODING|NM_018269.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3446,0.451,0.3887,0.51,0.80,0.36,,,,,,,,,,,,,,,,
synonymous_variant,COLEC11,SILENT,NM_199235.2:p.Lys53Lys/c.159G>A,aaG/aaA,LOW,COSM4133818(1),0.119209,0.3115,rs10170348,,,,,,chr2,3673648,3673648,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys53Lys/c.159G>A|268|COLEC11|protein_coding|CODING|NM_199235.2|4|1),intron_variant(MODIFIER|||c.131-11475G>A|247|COLEC11|protein_coding|CODING|NM_001255982.1|2|1),intron_variant(MODIFIER|||c.131-14220G>A|223|COLEC11|protein_coding|CODING|NM_001255984.1|2|1),intron_variant(MODIFIER|||c.53-11475G>A|221|COLEC11|protein_coding|CODING|NM_001255987.1|1|1),intron_variant(MODIFIER|||c.53-14220G>A|197|COLEC11|protein_coding|CODING|NM_001255989.1|1|1),intron_variant(MODIFIER|||c.245-11475G>A|285|COLEC11|protein_coding|CODING|NM_001255985.1|4|1),intron_variant(MODIFIER|||c.125-11475G>A|245|COLEC11|protein_coding|CODING|NM_001255986.1|2|1),intron_variant(MODIFIER|||c.203-11475G>A|271|COLEC11|protein_coding|CODING|NM_024027.4|3|1),intron_variant(MODIFIER|||n.566-11475G>A||COLEC11||CODING|NR_045659.1|3|1),intron_variant(MODIFIER|||c.202+12676G>A|247|COLEC11|protein_coding|CODING|NM_001255983.1|3|1),intron_variant(MODIFIER|||c.124+12676G>A|221|COLEC11|protein_coding|CODING|NM_001255988.1|2|1)","IMR90:H3K27ac,HepG2:H3K27me3",,,,0.0583,0.0735,0.1571,0.11,0.04,0.14,,,,,,,,,,,,,,,,
synonymous_variant,DCDC2C,SILENT,NM_001287444.1:p.Gly192Gly/c.576C>T,ggC/ggT,LOW,COSM4133832(1),0.512979,0.6756,rs357969,,,,,,chr2,3800383,3800383,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly192Gly/c.576C>T|364|DCDC2C|protein_coding|CODING|NM_001287444.1|5|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7239,0.5865,0.5487,,,,,,,,,,,,,,,,,,,
synonymous_variant,CMPK2,SILENT,NM_207315.3:p.Thr437Thr/c.1311G>A,acG/acA,LOW,COSM4001730(1),0.103435,0.2669,rs10495545,,,,,,chr2,6990020,6990020,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr437Thr/c.1311G>A|449|CMPK2|protein_coding|CODING|NM_207315.3|5|1),downstream_gene_variant(MODIFIER||761||409|CMPK2|protein_coding|CODING|NM_001256477.1||1),intron_variant(MODIFIER|||c.993-9211G>A|366|CMPK2|protein_coding|CODING|NM_001256478.1|3|1),non_coding_exon_variant(MODIFIER|||n.846G>A||CMPK2||CODING|NR_046236.1|5|1)","CD4:H3K36me3,GM06990:H3K36me3",,,,0.0368,0.1023,0.1153,0.08,0.03,0.11,,,,,,,,,,,,,,,,
synonymous_variant,CMPK2,SILENT,NM_207315.3:p.Cys153Cys/c.459T>C,tgT/tgC,LOW,COSM3749673(7),0.998003,1,rs11678810,,,,,,chr2,7005369,7005369,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys153Cys/c.459T>C|409|CMPK2|protein_coding|CODING|NM_001256477.1|1|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys153Cys/c.459T>C|366|CMPK2|protein_coding|CODING|NM_001256478.1|1|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys153Cys/c.459T>C|449|CMPK2|protein_coding|CODING|NM_207315.3|1|1),intron_variant(MODIFIER|||n.210+1188T>C||CMPK2||CODING|NR_046236.1|1|1)","K562:ZBTB7A,K562:H3K4me3,K562:PolII,HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,GM12878:PolII,HSMM:H3K27me3,HepG2:DNase1,GM12878:H3K9ac,HepG2:H3K27me3,NHEK:DNase1,GM12878:Tcf12,K562:DNase1",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,RNF144A,MISSENSE,NM_014746.4:p.Thr4Ala/c.10A>G,Aca/Gca,MODERATE,,0.841853,0.7817,rs364891,1(T),0.0(B),0.28(N),-0.9623(T),,chr2,7137067,7137067,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr4Ala/c.10A>G|292|RNF144A|protein_coding|CODING|NM_014746.4|3|1),HepG2:H3K36me3,,,,0.9417,0.7954,0.8022,0.81,0.86,0.79,,0.000001(N),0.999(P),"1.45,1.45,1.45(T,T,T)",0.0000(T),0.073,0.805546,5.62,4.74,-0.119000,0.858000,5.276000,0.992000,0.986000,1.000000,12.7793
synonymous_variant,RNF144A,SILENT,NM_014746.4:p.Thr61Thr/c.183T>C,acT/acC,LOW,,0.9998,0.999,rs309325,,,,-1.0195(T),,chr2,7154632,7154632,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr61Thr/c.183T>C|292|RNF144A|protein_coding|CODING|NM_014746.4|4|1),"NHEK:CTCF,CD4:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,GM12878:CTCF,NH-A:DNase1,NH-A:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,1,1,1,,,,,,0.000(P),,0.0000(T),.,1.080246,5.51,-1.96,-2.189000,-0.423000,-0.162000,0.901000,0.988000,0.748000,5.5944
synonymous_variant,KIDINS220,SILENT,NM_020738.2:p.Leu1225Leu/c.3673C>T,Ctg/Ttg,LOW,,0.052516,0.004,rs61742863,,,,,,chr2,8877042,8877042,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1225Leu/c.3673C>T|1771|KIDINS220|protein_coding|CODING|NM_020738.2|27|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0859,0.0548,0.1064,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,ASAP2,SILENT,NM_003887.2:p.Leu368Leu/c.1104C>T,ctC/ctT,LOW,,0.88099,0.9196,rs4669385,,,,,,chr2,9491017,9491017,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu368Leu/c.1104C>T|961|ASAP2|protein_coding|CODING|NM_001135191.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu368Leu/c.1104C>T|1006|ASAP2|protein_coding|CODING|NM_003887.2|12|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9397,0.9611,0.998,0.91,0.74,1.00,,,,,,,,,,,,,,,,
missense_variant,ASAP2,MISSENSE,NM_003887.2:p.Glu748Asp/c.2244G>C,gaG/gaC,MODERATE,,0.445887,0.1468,rs2715860,1(T),"0.0,0.0(B,B)",-0.97(N),-0.9689(T),,chr2,9528536,9528536,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu748Asp/c.2244G>C|961|ASAP2|protein_coding|CODING|NM_001135191.1|22|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu748Asp/c.2244G>C|1006|ASAP2|protein_coding|CODING|NM_003887.2|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2618,0.4265,0.3211,0.50,0.81,0.34,,0.220363(N),1.000(P),"0.54,0.44(T,T)",0.0000(T),0.079,0.465221,5.58,4.69,-0.216000,1.369000,2.946000,0.942000,1.000000,1.000000,9.283
synonymous_variant,ADAM17,SILENT,NM_003183.4:p.Ser608Ser/c.1824T>C,tcT/tcC,LOW,,0.464457,0.0962,rs1048610,,,,,,chr2,9634856,9634856,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser608Ser/c.1824T>C|824|ADAM17|protein_coding|CODING|NM_003183.4|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4233,0.402,0.5845,0.65,0.72,0.61,,,,,,,,,,,,,,,,
missense_variant,TAF1B,MISSENSE,NM_005680.2:p.Ala6Ser/c.16G>T,Gcg/Tcg,MODERATE,COSM3758423(4),0.540735,0.6845,rs2303914,,"0.099,0.037,0.006(B,B,B)",0.205(N),-0.9444(T),,chr2,9983686,9983686,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala6Ser/c.16G>T|588|TAF1B|protein_coding|CODING|NM_005680.2|1|1),splice_region_variant(LOW|||c.16G>T|588|TAF1B|protein_coding|CODING|NM_005680.2|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,K562:TFIIIC-110,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,H1ESC:Egr1,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.547,0.5908,0.5229,0.44,0.38,0.48,,0.869122(N),0.000(P),0.85(T),0.0000(T),0.16,1.347895,3.44,0.593,-0.251000,0.112000,0.196000,0.784000,0.967000,0.995000,5.8805
synonymous_variant,TAF1B,SILENT,NM_005680.2:p.Tyr278Tyr/c.834C>T,taC/taT,LOW,,0.819688,0.8294,rs400917,,,,,,chr2,10045014,10045014,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr278Tyr/c.834C>T|588|TAF1B|protein_coding|CODING|NM_005680.2|9|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8272,0.9424,0.9324,0.85,0.69,0.93,,,,,,,,,,,,,,,,
missense_variant,TAF1B,MISSENSE,NM_005680.2:p.Val282Ile/c.844G>A,Gta/Ata,MODERATE,,0.932109,1,rs396190,,"0.0,0.0(B,B)",-0.905(N),-1.0117(T),,chr2,10045024,10045024,G,A,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val282Ile/c.844G>A|588|TAF1B|protein_coding|CODING|NM_005680.2|9|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9841,1,0.93,0.80,1.00,,0.023330(N),1.000(P),"4.94,4.94(T,T)",0.0000(T),0.086,-0.688668,5.67,3.27,-0.516000,0.096000,0.419000,0.421000,0.113000,0.006000,1.7932
missense_variant,TAF1B,MISSENSE,NM_005680.2:p.Thr487Met/c.1460C>T,aCg/aTg,MODERATE,COSM3757522(1),0.13758,0.2312,rs16867245,,"0.451,0.742(P,P)",1.39(L),-1.0744(T),,chr2,10059844,10059844,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr487Met/c.1460C>T|588|TAF1B|protein_coding|CODING|NM_005680.2|14|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1585,0.2406,0.1262,0.08,0.03,0.11,,0.028418(N),1.000(P),"0.78,0.78(T,T)",0.0001(T),0.128,1.980354,5.01,5.01,0.591000,2.489000,0.709000,0.573000,0.047000,0.000000,8.7309
synonymous_variant,GRHL1,SILENT,NM_198182.2:p.Asp54Asp/c.162T>C,gaT/gaC,LOW,,0.174321,0.0109,rs16867251,,,,,,chr2,10095185,10095185,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp54Asp/c.162T>C|618|GRHL1|protein_coding|CODING|NM_198182.2|2|1),"K562:H3K36me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.0685,0.1023,0.1461,0.20,0.34,0.13,,,,,,,,,,,,,,,,
missense_variant,GRHL1,MISSENSE,NM_198182.2:p.Asn191Ser/c.572A>G,aAt/aGt,MODERATE,,0.176318,0.0119,rs16867256,0.82(T),0.0(B),0(N),-0.9539(T),,chr2,10101468,10101468,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn191Ser/c.572A>G|618|GRHL1|protein_coding|CODING|NM_198182.2|4|1),"K562:H3K36me3,HepG2:H3K36me3",,,,0.0736,0.1052,0.1461,0.21,0.36,0.13,,,1.000(P),2.32(T),0.0000(T),0.017,-0.924831,5.5,-8.89,-1.945000,-2.729000,-0.411000,0.440000,0.000000,0.000000,10.4728
missense_variant,KLF11,MISSENSE,NM_003597.4:p.Gln62Arg/c.185A>G,cAg/cGg,MODERATE,,0.0579073,0.003,rs35927125,0.04(D),0.003(B),2.215(M),-1.0450(T),,chr2,10186419,10186419,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln45Arg/c.134A>G|495|KLF11|protein_coding|CODING|NM_001177716.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln45Arg/c.134A>G|495|KLF11|protein_coding|CODING|NM_001177718.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln62Arg/c.185A>G|512|KLF11|protein_coding|CODING|NM_003597.4|2|1)","K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000117438.2,,0.0695,0.072,0.1233,0.09,0.04,0.12,,0.074747(N),0.776(P),"-0.08,2.54,-0.1,2.53,-0.07,2.53(T,T,T,T,T,T)",0.0036(T),0.079,1.636632,5.03,-0.464,0.379000,-0.043000,2.349000,0.671000,0.190000,1.000000,5.9364
synonymous_variant,KLF11,SILENT,NM_003597.4:p.Val395Val/c.1185A>T,gtA/gtT,LOW,,0.835264,0.8313,rs11687357,,,,,,chr2,10188649,10188649,A,T,hom,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val378Val/c.1134A>T|495|KLF11|protein_coding|CODING|NM_001177716.1|3|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val378Val/c.1134A>T|495|KLF11|protein_coding|CODING|NM_001177718.1|3|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val395Val/c.1185A>T|512|KLF11|protein_coding|CODING|NM_003597.4|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8456,0.8746,0.8201,0.81,0.81,0.81,,,,,,,,,,,,,,,,
missense_variant,RRM2,MISSENSE,NM_001165931.1:p.Ser59Ala/c.175T>G,Tcc/Gcc,MODERATE,COSM440905(4),0.651757,0.3393,rs1130609,0.98(T),,,-0.9025(T),,chr2,10262920,10262920,T,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser59Ala/c.175T>G|449|RRM2|protein_coding|CODING|NM_001165931.1|1|1),5_prime_UTR_variant(MODIFIER||6|c.-6T>G|389|RRM2|protein_coding|CODING|NM_001034.3|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:HDAC2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,HepG2:SP1,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:Cfos,CD4:PolII,GM12878:Cfos,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,K562:Nrsf,H1ESC:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.5593,0.5476,0.7326,0.77,0.89,0.71,,0.298944(N),1.000(P),-4.43(D),0.0000(T),0.026,0.030310,4.41,-3.44,-0.371000,-0.970000,-3.361000,0.135000,0.000000,0.000000,1.2061
missense_variant,NOL10,MISSENSE,NM_024894.3:p.Asp635Asn/c.1903G>A,Gac/Aac,MODERATE,COSM4001119(1),0.133387,0.128,rs2287059,0.51(T),"0.004,0.004,0.174(B,B,B)",2.075(M),-1.0100(T),,chr2,10717806,10717806,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp609Asn/c.1825G>A|662|NOL10|protein_coding|CODING|NM_001261392.1|19|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp585Asn/c.1753G>A|638|NOL10|protein_coding|CODING|NM_001261394.1|19|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp635Asn/c.1903G>A|688|NOL10|protein_coding|CODING|NM_024894.3|20|1),non_coding_exon_variant(MODIFIER|||n.1983G>A||NOL10||CODING|NR_048552.1|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1227,0.1844,0.2744,0.22,0.06,0.30,,0.000000(D),0.000(P),"0.95,2.28,1.56,2.28(T,T,T,T)",0.0000(T),0.129,2.773842,5.99,5.99,0.655000,2.840000,4.025000,0.711000,0.961000,0.997000,20.4777
synonymous_variant,ATP6V1C2,SILENT,NM_001039362.1:p.Val207Val/c.621G>A,gtG/gtA,LOW,COSM3757572(1),0.124201,0.0526,rs72777388,,,,,,chr2,10912719,10912719,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val207Val/c.621G>A|427|ATP6V1C2|protein_coding|CODING|NM_001039362.1|8|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val207Val/c.621G>A|381|ATP6V1C2|protein_coding|CODING|NM_144583.3|8|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0654,0.1369,0.2028,0.19,0.15,0.21,,,,,,,,,,,,,,,,
synonymous_variant,PDIA6,SILENT,NM_001282704.1:p.Arg194Arg/c.582G>A,cgG/cgA,LOW,COSM3757576(2),0.386182,0.4583,rs4799,,,,,,chr2,10933249,10933249,C,T,hom,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg194Arg/c.582G>A|492|PDIA6|protein_coding|CODING|NM_001282704.1|7|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg190Arg/c.570G>A|488|PDIA6|protein_coding|CODING|NM_001282705.1|6|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg147Arg/c.441G>A|445|PDIA6|protein_coding|CODING|NM_001282706.1|6|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg139Arg/c.417G>A|437|PDIA6|protein_coding|CODING|NM_001282707.1|6|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg142Arg/c.426G>A|440|PDIA6|protein_coding|CODING|NM_005742.3|5|1)","NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.455,0.4784,0.4781,0.41,0.21,0.51,,,,,,,,,,,,,,,,
synonymous_variant,PDIA6,SILENT,NM_001282704.1:p.Ser85Ser/c.255G>A,tcG/tcA,LOW,COSM4001126(1),0.459864,0.4613,rs4758,,,,,,chr2,10942687,10942687,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser85Ser/c.255G>A|492|PDIA6|protein_coding|CODING|NM_001282704.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser81Ser/c.243G>A|488|PDIA6|protein_coding|CODING|NM_001282705.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser38Ser/c.114G>A|445|PDIA6|protein_coding|CODING|NM_001282706.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser30Ser/c.90G>A|437|PDIA6|protein_coding|CODING|NM_001282707.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser33Ser/c.99G>A|440|PDIA6|protein_coding|CODING|NM_005742.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.638,0.5245,0.5835,0.49,0.27,0.59,,,,,,,,,,,,,,,,
missense_variant,PDIA6,MISSENSE,NM_001282704.1:p.Asn56Lys/c.168T>G,aaT/aaG,MODERATE,COSM4001130(1),0.0794728,0.0585,rs72779451,0.82(T),"0.001,0.001(B,B)",,-0.9379(T),,chr2,10959407,10959407,A,C,hom,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn56Lys/c.168T>G|492|PDIA6|protein_coding|CODING|NM_001282704.1|3|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn52Lys/c.156T>G|488|PDIA6|protein_coding|CODING|NM_001282705.1|2|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn9Lys/c.27T>G|445|PDIA6|protein_coding|CODING|NM_001282706.1|2|1)","GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0542,0.1268,0.1879,,,,,0.003015(N),1.000(P),"3.71,3.72,3.75(T,T,T)",0.0000(T),0.238,-1.674955,0.94,-1.88,-1.489000,-2.629000,-1.919000,0.001000,0.000000,0.000000,3.9079
synonymous_variant,PDIA6,SILENT,NM_001282704.1:p.Ala38Ala/c.114C>A,gcC/gcA,LOW,,0.0794728,0.0585,rs72779452,,,,,,chr2,10959461,10959461,G,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala38Ala/c.114C>A|492|PDIA6|protein_coding|CODING|NM_001282704.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala34Ala/c.102C>A|488|PDIA6|protein_coding|CODING|NM_001282705.1|2|1),5_prime_UTR_variant(MODIFIER||28|c.-28C>A|445|PDIA6|protein_coding|CODING|NM_001282706.1|2|1)","GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0542,0.1268,0.1879,,,,,,,,,,,,,,,,,,,
missense_variant,PDIA6,MISSENSE,NM_001282704.1:p.Pro34Ala/c.100C>G,Cca/Gca,MODERATE,,0.0852636,0.0585,rs72779453,0(D),"0.0,0.0(B,B)",,-0.9679(T),,chr2,10959475,10959475,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro34Ala/c.100C>G|492|PDIA6|protein_coding|CODING|NM_001282704.1|3|1),missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro30Ala/c.88C>G|488|PDIA6|protein_coding|CODING|NM_001282705.1|2|1),5_prime_UTR_variant(MODIFIER||42|c.-42C>G|445|PDIA6|protein_coding|CODING|NM_001282706.1|2|1)","GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0542,0.1268,0.1879,,,,,,1.000(P),"3.77,3.32(T,T)",0.0000(T),0.02,-1.915485,0.94,0.94,-0.357000,-0.019000,-0.578000,0.000000,0.000000,0.000000,4.8419
synonymous_variant,PDIA6,SILENT,NM_001282704.1:p.Cys13Cys/c.39C>T,tgC/tgT,LOW,,0.0846645,0.0585,rs56025654,,,,,,chr2,10960952,10960952,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys13Cys/c.39C>T|492|PDIA6|protein_coding|CODING|NM_001282704.1|2|1),intron_variant(MODIFIER|||c.-47-1472C>T|445|PDIA6|protein_coding|CODING|NM_001282706.1|1|1),intron_variant(MODIFIER|||c.83-1472C>T|488|PDIA6|protein_coding|CODING|NM_001282705.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0542,0.1268,0.1879,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNF1,SILENT,NM_002236.4:p.Ala156Ala/c.468A>G,gcA/gcG,LOW,COSM440976(5),0.892971,0.9653,rs3732104,,,,,,chr2,11053020,11053020,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala156Ala/c.468A>G|494|KCNF1|protein_coding|CODING|NM_002236.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8037,0.8314,0.837,0.88,0.95,0.84,,,,,,,,,,,,,,,,
synonymous_variant,KCNF1,SILENT,NM_002236.4:p.Ile396Ile/c.1188C>T,atC/atT,LOW,,0.483027,0.5099,rs3732105,,,,,,chr2,11053740,11053740,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile396Ile/c.1188C>T|494|KCNF1|protein_coding|CODING|NM_002236.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4898,0.4928,0.6322,0.55,0.38,0.64,,,,,,,,,,,,,,,,
splice_acceptor_variant,GREB1,protein_coding,NM_148903.2:c.1160G>A,,HIGH,COSM148800(1),0.619209,0.4881,rs13394619,,,,,GREB1:0.33(3);,chr2,11727507,11727507,G,A,hom,"splice_acceptor_variant(HIGH|||c.1160G>A|409|GREB1|protein_coding|CODING|NM_148903.2|10|1),intron_variant(MODIFIER|||c.1160-1G>A|409|GREB1|protein_coding|CODING|NM_148903.2|9|1),intron_variant(MODIFIER|||c.1160-1365G>A|1949|GREB1|protein_coding|CODING|NM_014668.3|9|1),intron_variant(MODIFIER|||c.1160-1365G>A|457|GREB1|protein_coding|CODING|NM_033090.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",Endometriosis,,,0.4683,0.5893,0.5278,0.61,0.84,0.50,,,1.000(P),,,.,-0.681773,2.02,-0.7,-1.246000,-0.592000,-0.639000,0.000000,0.000000,0.000000,6.295
synonymous_variant,GREB1,SILENT,NM_014668.3:p.His713His/c.2139T>C,caT/caC,LOW,,0.916733,0.9692,rs1435547,,,,,,chr2,11738091,11738091,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His713His/c.2139T>C|1949|GREB1|protein_coding|CODING|NM_014668.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9611,0.9683,0.995,0.94,0.82,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GREB1,SILENT,NM_014668.3:p.Ser895Ser/c.2685C>T,agC/agT,LOW,COSM1398989(1),0.0061901,0.001,rs62118319,,,,,,chr2,11750832,11750832,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser895Ser/c.2685C>T|1949|GREB1|protein_coding|CODING|NM_014668.3|18|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0266,0.0029,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,GREB1,SILENT,NM_014668.3:p.Ile1007Ile/c.3021T>C,atT/atC,LOW,,0.976438,0.9762,rs2304399,,,,,,chr2,11752635,11752635,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1007Ile/c.3021T>C|1949|GREB1|protein_coding|CODING|NM_014668.3|19|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9847,0.987,0.996,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,NTSR2,MISSENSE,NM_012344.3:p.Ala54Val/c.161C>T,gCg/gTg,MODERATE,COSM3749589(25),0.970647,1,rs6432225,1(T),0.001(B),-1.39(N),-0.9145(T),,chr2,11810095,11810095,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala54Val/c.161C>T|410|NTSR2|protein_coding|CODING|NM_012344.3|1|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,H1ESC:USF1,GM06990:H3K27me3,HUVEC:Max,HUVEC:H3K27me3,HepG2:Sin3Ak20,GM12878:H3K27me3,HeLa-S3:Max,HepG2:Nrsf,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HepG2:USF1,NH-A:H3K27me3,HUVEC:DNase1,K562:USF1,NH-A:DNase1,HUVEC:Cmyc,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:Nrsf,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,H1ESC:Sin3Ak20,K562:Nrsf,HepG2:H3K27me3,HepG2:Rad21,NHEK:DNase1,HepG2:Cmyc,GM12878:Nrsf",,,,1,0.9899,1,0.98,0.96,1.00,,0.151813(N),1.000(P),-0.35(T),0.0000(T),0.115,0.908158,4.66,-4.72,-0.972000,-1.397000,0.947000,0.940000,0.081000,0.063000,13.7365
missense_variant,LPIN1,MISSENSE,NM_001261428.1:p.Glu13Asp/c.39G>C,gaG/gaC,MODERATE,COSM4133027(1),0.486422,0.4018,rs4669769,0(D),0.002(B),,-0.9502(T),,chr2,11817812,11817812,G,C,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu13Asp/c.39G>C|975|LPIN1|protein_coding|CODING|NM_001261428.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6564,0.5937,0.6064,,,,,,0.997(P),-1.41(T),0.0000(T),0.158,0.948802,4.05,-0.513,0.563000,-0.082000,-0.209000,0.120000,0.067000,0.016000,1.5552
missense_variant,LPIN1,MISSENSE,NM_001261428.1:p.Arg38Gln/c.113G>A,cGa/cAa,MODERATE,,0.157348,0.1379,rs4614906,0.2(T),0.979(D),,-1.1980(T),,chr2,11853913,11853913,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|975|LPIN1|protein_coding|CODING|NM_001261428.1|2|1),"GM06990:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.273,0.232,0.2078,,,,,,0.000(P),-1.44(T),0.0002(T),0.358,2.375813,4.9,4.9,0.655000,2.546000,4.587000,0.995000,0.994000,0.983000,13.4336
missense_variant,NBAS,MISSENSE,NM_015909.3:p.Arg1004Gln/c.3011G>A,cGa/cAa,MODERATE,COSM4133182(1),0.0676917,0.1131,rs16862653,,,1.67(L),-1.1010(T),,chr2,15542352,15542352,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1004Gln/c.3011G>A|2371|NBAS|protein_coding|CODING|NM_015909.3|26|1),non_coding_exon_variant(MODIFIER|||n.3055G>A||NBAS||CODING|NR_052013.2|26|1)","K562:H3K36me3,HSMM:H3K36me3",,,,0.0123,0.0447,0.0616,0.06,0.08,0.05,,,0.000(P),,0.0033(T),.,4.332903,5.65,4.77,0.655000,1.374000,5.449000,0.770000,0.188000,1.000000,13.3248
synonymous_variant,NBAS,SILENT,NM_015909.3:p.Leu741Leu/c.2223G>A,ctG/ctA,LOW,COSM3757685(1),0.523562,0.2222,rs7590340,,,,,,chr2,15601441,15601441,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu741Leu/c.2223G>A|2371|NBAS|protein_coding|CODING|NM_015909.3|21|1),non_coding_exon_variant(MODIFIER|||n.2267G>A||NBAS||CODING|NR_052013.2|21|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5419,0.6254,0.6938,0.65,0.58,0.68,,,,,,,,,,,,,,,,
missense_variant,NBAS,MISSENSE,NM_015909.3:p.Lys655Arg/c.1964A>G,aAg/aGg,MODERATE,COSM1741288(2),0.360623,0.1617,rs4668909,0(D),0.002(B),0.6(N),-0.9854(T),,chr2,15607842,15607842,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys655Arg/c.1964A>G|2371|NBAS|protein_coding|CODING|NM_015909.3|18|1),non_coding_exon_variant(MODIFIER|||n.2008A>G||NBAS||CODING|NR_052013.2|18|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4162,0.5677,0.6879,0.52,0.22,0.68,,0.000051(N),1.000(P),"2.88,3.02(T,T)",0.0000(T),0.025,1.485579,5.33,-1.26,-0.256000,-0.370000,1.492000,0.513000,0.000000,0.996000,12.0186
synonymous_variant,NBAS,SILENT,NM_015909.3:p.Arg462Arg/c.1386A>G,agA/agG,LOW,COSM3757686(1),0.519369,0.2232,rs13014906,,,,,,chr2,15614404,15614404,T,C,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg462Arg/c.1386A>G|2371|NBAS|protein_coding|CODING|NM_015909.3|15|1),non_coding_exon_variant(MODIFIER|||n.1430A>G||NBAS||CODING|NR_052013.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5307,0.6239,0.6938,0.65,0.57,0.68,,,,,,,,,,,,,,,,
synonymous_variant,NBAS,SILENT,NM_015909.3:p.Ser414Ser/c.1242T>C,tcT/tcC,LOW,COSM148803(4),0.492812,0.1696,rs1990754,,,,,,chr2,15615910,15615910,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser414Ser/c.1242T>C|2371|NBAS|protein_coding|CODING|NM_015909.3|14|1),non_coding_exon_variant(MODIFIER|||n.1286T>C||NBAS||CODING|NR_052013.2|14|1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5123,0.6009,0.6909,0.64,0.54,0.68,,,,,,,,,,,,,,,,
missense_variant,NBAS,MISSENSE,NM_015909.3:p.Ile243Val/c.727A>G,Att/Gtt,MODERATE,COSM3757687(2),0.389177,0.1617,rs13029846,0(D),0.002(B),0.665(N),-0.9314(T),,chr2,15674686,15674686,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile243Val/c.727A>G|2371|NBAS|protein_coding|CODING|NM_015909.3|9|1),non_coding_exon_variant(MODIFIER|||n.771A>G||NBAS||CODING|NR_052013.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4243,0.5807,0.6879,0.55,0.30,0.68,,0.014571(N),0.946(P),"0.9,0.9(T,T)",0.0000(T),0.029,-0.336426,5.82,-4.29,0.533000,-0.749000,-0.116000,0.975000,0.019000,0.001000,9.3522
missense_variant,SMC6,MISSENSE,NM_001142286.1:p.Ala691Thr/c.2071G>A,Gcc/Acc,MODERATE,,0.20647,0.0119,rs1065381,0.52(T),"0.002,0.003,0.002(B,B,B)",0(N),-0.9163(T),,chr2,17884495,17884495,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala691Thr/c.2071G>A|1091|SMC6|protein_coding|CODING|NM_001142286.1|19|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala691Thr/c.2071G>A|1091|SMC6|protein_coding|CODING|NM_024624.5|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0787,0.2161,0.3241,0.33,0.32,0.33,,0.050752(N),0.968(P),"1.57,1.57,1.57,1.57,1.48(T,T,T,T,T)",0.0000(T),0.015,0.981245,5.75,1.55,0.579000,0.371000,0.736000,0.186000,0.990000,1.000000,4.2671
missense_variant,SMC6,MISSENSE,NM_001142286.1:p.Arg464Gly/c.1390A>G,Agg/Ggg,MODERATE,COSM3757787(2),0.101238,0.0139,rs35195207,0.41(T),"0.134,0.006,0.16(B,B,B)",1.385(L),-0.9965(T),,chr2,17897488,17897488,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg464Gly/c.1390A>G|1091|SMC6|protein_coding|CODING|NM_001142286.1|15|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg464Gly/c.1390A>G|1091|SMC6|protein_coding|CODING|NM_024624.5|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0603,0.1671,0.2416,0.20,0.08,0.26,,0.000043(D),1.000(P),"1.56,1.56,1.56,1.56,1.37(T,T,T,T,T)",0.0000(T),0.145,2.016854,5.62,4.42,0.454000,2.141000,3.853000,0.612000,0.996000,1.000000,12.249
missense_variant,GEN1,MISSENSE,NM_001130009.1:p.Ser92Thr/c.274T>A,Tct/Act,MODERATE,,0.813698,0.9861,rs1812152,0.64(T),0.002(B),-0.47(N),-1.0053(T),,chr2,17942775,17942775,T,A,het,"missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser92Thr/c.274T>A|908|GEN1|protein_coding|CODING|NM_001130009.1|3|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser92Thr/c.274T>A|908|GEN1|protein_coding|CODING|NM_182625.3|3|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8978,0.781,0.6382,0.67,0.76,0.63,,0.084169(N),0.000(P),"-0.01,-0.01,-0.01,-0.01(T,T,T,T)",0.0000(T),0.088,-0.327812,5.35,0.326,-0.257000,-0.076000,0.567000,0.215000,0.898000,0.189000,6.29
missense_variant,GEN1,MISSENSE,NM_001130009.1:p.Asn143Ser/c.428A>G,aAt/aGt,MODERATE,COSM4001384(1),0.127995,0.0337,rs16981869,0.03(D),0.553(P),1.18(L),-1.0832(T),,chr2,17946243,17946243,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn143Ser/c.428A>G|908|GEN1|protein_coding|CODING|NM_001130009.1|4|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn143Ser/c.428A>G|908|GEN1|protein_coding|CODING|NM_182625.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0992,0.1153,0.1074,0.15,0.23,0.10,,0.010865(N),0.000(P),"-0.45,-0.45(T,T)",0.0000(T),0.048,2.946009,5.71,3.32,-0.377000,0.435000,6.885000,0.187000,0.414000,1.000000,8.0275
missense_variant,GEN1,MISSENSE,NM_001130009.1:p.Ser310Asn/c.929G>A,aGt/aAt,MODERATE,,0.977037,1,rs300175,0.44(T),0.001(B),-0.895(N),-0.9734(T),,chr2,17954027,17954027,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser310Asn/c.929G>A|908|GEN1|protein_coding|CODING|NM_001130009.1|8|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser310Asn/c.929G>A|908|GEN1|protein_coding|CODING|NM_182625.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9663,0.9986,1,0.98,0.95,1.00,,0.252200(N),1.000(P),"0.81,0.81,0.81(T,T,T)",0.0000(T),0.085,-0.443742,5.63,-11.3,-3.189000,-3.417000,-2.195000,0.025000,0.000000,0.000000,6.7358
synonymous_variant,GEN1,SILENT,NM_001130009.1:p.Ser546Ser/c.1638T>A,tcT/tcA,LOW,,0.00998403,0,rs61762986,,,,,,chr2,17962117,17962117,T,A,het,"synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser546Ser/c.1638T>A|908|GEN1|protein_coding|CODING|NM_001130009.1|14|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser546Ser/c.1638T>A|908|GEN1|protein_coding|CODING|NM_182625.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0216,0.0189,0.01,0.01,0.01,,,,,,,,,,,,,,,,
missense_variant,GEN1,MISSENSE,NM_001130009.1:p.Thr680Ile/c.2039C>T,aCa/aTa,MODERATE,,0.757987,0.9851,rs300169,0.96(T),0.0(B),-1.78(N),-0.9967(T),,chr2,17962518,17962518,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr680Ile/c.2039C>T|908|GEN1|protein_coding|CODING|NM_001130009.1|14|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr680Ile/c.2039C>T|908|GEN1|protein_coding|CODING|NM_182625.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8978,0.7608,0.6372,0.62,0.61,0.62,,0.183544(N),1.000(P),"2.01,2.01(T,T)",0.0000(T),0.022,-1.170832,5.41,1.16,-0.254000,0.077000,0.180000,0.862000,0.246000,0.000000,0.5453
missense_variant,MSGN1,MISSENSE,NM_001105569.1:p.Glu80Asp/c.240A>T,gaA/gaT,MODERATE,COSM4133319(1),0.321885,0.0268,rs34069439,0.64(T),0.0(B),-1.1(N),-0.9706(T),,chr2,17998025,17998025,A,T,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu80Asp/c.240A>T|193|MSGN1|protein_coding|CODING|NM_001105569.1|1|1),"NHEK:H3K27ac,HUVEC:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4325,0.3559,0.5398,0.51,0.35,0.58,,0.198368(N),1.000(P),2.35(T),0.0000(T),0.031,-2.296235,4.75,2.33,-0.257000,0.087000,-0.049000,0.169000,0.013000,0.118000,0.8901
missense_variant,MSGN1,MISSENSE,NM_001105569.1:p.His104Tyr/c.310C>T,Cac/Tac,MODERATE,COSM441917(1),0.295927,0.0278,rs35858730,0.59(T),0.0(B),-1.67(N),-0.9699(T),,chr2,17998095,17998095,C,T,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His104Tyr/c.310C>T|193|MSGN1|protein_coding|CODING|NM_001105569.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4335,0.3429,0.5398,0.47,0.25,0.57,,0.013765(N),1.000(P),2.35(T),0.0000(T),0.046,-2.614259,5.77,5.77,-0.254000,1.020000,1.350000,0.062000,0.066000,0.024000,8.8701
synonymous_variant,MSGN1,SILENT,NM_001105569.1:p.Leu182Leu/c.546T>C,ctT/ctC,LOW,COSM4001435(2),0.294529,0.0278,rs13001625,,,,,,chr2,17998331,17998331,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu182Leu/c.546T>C|193|MSGN1|protein_coding|CODING|NM_001105569.1|1|1),"HUVEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4039,0.3501,0.5378,0.47,0.26,0.57,,,,,,,,,,,,,,,,
synonymous_variant,KCNS3,SILENT,NM_001282428.1:p.Glu66Glu/c.198G>A,gaG/gaA,LOW,,0.941094,1,rs4240213,,,,,,chr2,18112473,18112473,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu66Glu/c.198G>A|491|KCNS3|protein_coding|CODING|NM_001282428.1|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu66Glu/c.198G>A|491|KCNS3|protein_coding|CODING|NM_002252.4|3|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9928,0.9784,0.9722,0.93,0.85,0.97,,,,,,,,,,,,,,,,
missense_variant,KCNS3,MISSENSE,NM_001282428.1:p.Thr450Ala/c.1348A>G,Acc/Gcc,MODERATE,COSM3757832(1),0.796126,0.9831,rs4832524,1(T),0.0(B),-0.69(N),-0.9344(T),,chr2,18113623,18113623,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr450Ala/c.1348A>G|491|KCNS3|protein_coding|CODING|NM_001282428.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr450Ala/c.1348A>G|491|KCNS3|protein_coding|CODING|NM_002252.4|3|1)","H1ESC:H3K36me3,GM12878:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8661,0.8098,0.6074,0.67,0.72,0.64,,0.018168(N),1.000(P),"-4.14,-4.14(D,D)",0.0000(T),0.008,-1.226797,5.86,3.9,-0.119000,0.835000,3.596000,0.870000,0.730000,1.000000,5.3245
missense_variant,WDR35,MISSENSE,NM_001006657.1:p.Glu983Gly/c.2948A>G,gAa/gGa,MODERATE,,0.232428,0.1171,rs1191778,0.06(T),"0.156,0.066,0.526(B,B,P)",2.32(M),-1.0357(T),,chr2,20131079,20131079,T,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu983Gly/c.2948A>G|1181|WDR35|protein_coding|CODING|NM_001006657.1|25|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu972Gly/c.2915A>G|1170|WDR35|protein_coding|CODING|NM_020779.3|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2096,0.3588,0.4443,0.32,0.16,0.40,,0.000173(D),0.000(P),"-0.23,-0.23,-0.85(T,T,T)",0.0000(T),0.277,1.837657,4.82,4.82,0.482000,1.933000,3.878000,0.680000,0.019000,0.992000,13.8697
synonymous_variant,LAPTM4A,SILENT,NM_014713.4:p.Ser72Ser/c.216G>T,tcG/tcT,LOW,COSM4001467(1),0.16893,0.3056,rs3731673,,,,,,chr2,20240668,20240668,C,A,het,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser72Ser/c.216G>T|233|LAPTM4A|protein_coding|CODING|NM_014713.4|2|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Jund,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HeLa-S3:Cjun,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:FAIRE,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.2117,0.1988,0.174,0.14,0.05,0.19,,,,,,,,,,,,,,,,
missense_variant,SDC1,MISSENSE,NM_001006946.1:p.Leu136Gln/c.407T>A,cTg/cAg,MODERATE,,0.966853,1,rs10205485,0(D),"0.0,0.0(B,B)",-1.1(N),-0.9911(T),,chr2,20403794,20403794,A,T,hom,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu136Gln/c.407T>A|310|SDC1|protein_coding|CODING|NM_001006946.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu136Gln/c.407T>A|310|SDC1|protein_coding|CODING|NM_002997.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,0.9885,1,0.96,0.90,1.00,,0.985920(N),1.000(P),"2.25,2.25,1.52,1.51(T,T,T,T)",0.0000(T),0.284,-1.084333,3.87,-1.31,-1.205000,-0.580000,-0.844000,0.121000,0.000000,0.000000,4.5293
synonymous_variant,RHOB,SILENT,NM_004040.2:p.Arg68Arg/c.204C>T,cgC/cgT,LOW,,0.00479233,0,rs61754182,,,,,,chr2,20647430,20647430,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg68Arg/c.204C>T|196|RHOB|protein_coding|CODING|NM_004040.2|1|1),"NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HepG2:H4K20me1,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0,0.0101,0.0169,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,HS1BP3,SILENT,NM_022460.3:p.Pro284Pro/c.852A>G,ccA/ccG,LOW,COSM4133403(1),0.996206,1,rs6531248,,,,-1.0392(T),,chr2,20823724,20823724,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro284Pro/c.852A>G|392|HS1BP3|protein_coding|CODING|NM_022460.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,0.008(P),,0.0000(T),.,0.222413,4.46,-8.91,-2.253000,-3.351000,-4.218000,0.022000,0.015000,0.000000,0.1934
synonymous_variant,HS1BP3,SILENT,NM_022460.3:p.Glu239Glu/c.717G>A,gaG/gaA,LOW,COSM4133405(1),0.275559,0.4881,rs2305457,,,,-0.9100(T),,chr2,20824559,20824559,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu239Glu/c.717G>A|392|HS1BP3|protein_coding|CODING|NM_022460.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3344,0.366,0.2614,0.20,0.07,0.26,,,1.000(P),,0.0000(T),.,-1.064030,4.7,0.696,-0.176000,0.580000,-0.441000,0.003000,0.278000,0.000000,3.0218
synonymous_variant,HS1BP3,SILENT,NM_022460.3:p.Phe167Phe/c.501C>T,ttC/ttT,LOW,,0.359026,0.5565,rs3796064,,,,,,chr2,20838318,20838318,G,A,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe167Phe/c.501C>T|392|HS1BP3|protein_coding|CODING|NM_022460.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.454,0.3055,0.2763,0.25,0.22,0.26,,,,,,,,,,,,,,,,
synonymous_variant,GDF7,SILENT,NM_182828.2:p.Arg249Arg/c.747G>A,cgG/cgA,LOW,COSM3757918(3),0.807708,0.8313,rs13013489,,,,,,chr2,20870579,20870579,G,A,hom,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg249Arg/c.747G>A|450|GDF7|protein_coding|CODING|NM_182828.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.8875,0.8329,0.6859,0.85,0.90,0.83,,,,,,,,,,,,,,,,
missense_variant,APOB,MISSENSE,NM_000384.2:p.Ser4338Asn/c.13013G>A,aGt/aAt,MODERATE,COSM4001491(2),0.629593,0.2798,rs1042034,1(T),0.0(B),-1.59(N),-0.9746(T),,chr2,21225281,21225281,C,T,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser4338Asn/c.13013G>A|4563|APOB|protein_coding|CODING|NM_000384.2|29|1),"HepG2:PolII,HepG2:HEY1,HepG2:H3K36me3","HDL_cholesterol,Triglycerides",RCV000116382.2,,0.4151,0.7493,0.7823,0.80,0.84,0.78,,0.669497(N),1.000(P),1.25(T),0.0000(T),0.013,-1.103068,5.41,1.61,-0.516000,-0.124000,0.640000,0.001000,0.000000,0.001000,5.789
synonymous_variant,APOB,SILENT,NM_000384.2:p.Thr2515Thr/c.7545C>T,acC/acT,LOW,COSM4133426(1),0.250998,0.0615,rs386606006,,,,,,chr2,21232195,21232195,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr2515Thr/c.7545C>T|4563|APOB|protein_coding|CODING|NM_000384.2|26|1),"GM12878:H3K27me3,HepG2:PolII,HepG2:HEY1,HepG2:FOSL2,HepG2:H3K36me3,HepG2:Jund","Cholesterol_total,LDL_cholesterol,LDL_cholesterol,LDL_cholesterol,Triglycerides,Triglycerides",RCV000116389.2,,0.2157,0.3775,0.4423,0.41,0.25,0.50,,,,,,,,,,,,,,,,
missense_variant,APOB,MISSENSE,NM_000384.2:p.Ile2313Val/c.6937A>G,Att/Gtt,MODERATE,,0.986222,0.998,rs584542,0.57(T),0.003(B),1.1(L),-0.9846(T),,chr2,21232803,21232803,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile2313Val/c.6937A>G|4563|APOB|protein_coding|CODING|NM_000384.2|26|1),"HepG2:PolII,HepG2:HEY1,HepG2:H3K36me3",,,,1,0.9957,0.999,0.98,0.95,1.00,,0.262017(N),1.000(P),5.78(T),0.0000(T),0.067,-2.714744,5.76,-3.8,-3.274000,-1.344000,-0.205000,0.000000,0.002000,0.000000,5.845
synonymous_variant,APOB,SILENT,NM_000384.2:p.Asp2312Asp/c.6936C>T,gaC/gaT,LOW,COSM3933524(1),0.249201,0.0615,rs1041968,,,,,,chr2,21232804,21232804,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2312Asp/c.6936C>T|4563|APOB|protein_coding|CODING|NM_000384.2|26|1),"HepG2:PolII,HepG2:HEY1,HepG2:H3K36me3",,RCV000116388.2,,0.2065,0.3775,0.4423,0.40,0.23,0.48,,,,,,,,,,,,,,,,
missense_variant,APOB,MISSENSE,NM_000384.2:p.Tyr1422Cys/c.4265A>G,tAt/tGt,MODERATE,,1,1,rs386599419,0.46(T),0.0(B),-1.06(N),-1.0078(T),,chr2,21235475,21235475,T,C,hom,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1422Cys/c.4265A>G|4563|APOB|protein_coding|CODING|NM_000384.2|26|1),"HepG2:PolII,HepG2:HEY1,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.121421(N),1.000(P),5.8(T),0.0000(T),0.06,-1.921177,5.88,1.93,-0.119000,0.125000,0.573000,0.007000,0.048000,0.001000,4.8095
missense_variant,APOB,MISSENSE,NM_000384.2:p.Ala618Val/c.1853C>T,gCt/gTt,MODERATE,,0.485024,0.8641,rs679899,0.23(T),0.998(D),2.205(M),-0.9277(T),,chr2,21250914,21250914,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala618Val/c.1853C>T|4563|APOB|protein_coding|CODING|NM_000384.2|14|1),"GM12878:H3K27me3,HepG2:PolII,HepG2:HEY1,HepG2:H3K36me3",,RCV000116384.2,,0.6513,0.3919,0.4742,0.37,0.18,0.46,,0.000042(D),0.000(P),"-0.62,-0.62(T,T)",0.0000(T),0.792,4.993916,5.73,5.73,0.655000,2.882000,6.554000,0.979000,0.965000,1.000000,20.2886
missense_variant,APOB,MISSENSE,NM_000384.2:p.Thr98Ile/c.293C>T,aCc/aTc,MODERATE,COSM148808(3),0.169329,0.1151,rs1367117,0.1(T),0.085(B),2.125(M),-1.0458(T),,chr2,21263900,21263900,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr98Ile/c.293C>T|4563|APOB|protein_coding|CODING|NM_000384.2|4|1),"HepG2:H3K4me2,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:H3K79me2,HepG2:H3K27me3","Cholesterol_total,LDL_cholesterol,Lipid_metabolism_phenotypes,Lipid_metabolism_phenotypes",RCV000116386.2,,0.1329,0.2867,0.2982,0.25,0.13,0.31,,0.124629(N),0.814(P),"1.0,1.0(T,T)",0.0000(T),0.154,2.999255,4.86,2.93,0.655000,0.493000,2.809000,0.991000,0.958000,0.983000,7.7562
synonymous_variant,KLHL29,SILENT,NM_052920.1:p.Ile160Ile/c.480T>C,atT/atC,LOW,COSM442562(2),0.876198,0.999,rs642931,,,,,,chr2,23865260,23865260,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile160Ile/c.480T>C|875|KLHL29|protein_coding|CODING|NM_052920.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8558,0.8674,0.7644,0.78,0.84,0.75,,,,,,,,,,,,,,,,
synonymous_variant,KLHL29,SILENT,NM_052920.1:p.His699His/c.2097C>T,caC/caT,LOW,COSM442592(1),0.575479,0.7808,rs3795942,,,,-1.0298(T),,chr2,23919375,23919375,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His699His/c.2097C>T|875|KLHL29|protein_coding|CODING|NM_052920.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5828,0.6988,0.5447,0.51,0.37,0.56,,,0.000(P),,0.0000(T),.,0.709092,4.56,1.11,0.563000,0.439000,-0.722000,0.998000,1.000000,0.030000,7.2927
synonymous_variant,KLHL29,SILENT,NM_052920.1:p.Ala790Ala/c.2370T>C,gcT/gcC,LOW,,0.552915,0.7837,rs3795948,,,,,,chr2,23926659,23926659,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala790Ala/c.2370T>C|875|KLHL29|protein_coding|CODING|NM_052920.1|13|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.6686,0.4642,0.46,0.38,0.50,,,,,,,,,,,,,,,,
missense_variant,ATAD2B,MISSENSE,NM_017552.3:p.Gln207Arg/c.620A>G,cAg/cGg,MODERATE,,1,1,rs7579201,1(T),"0.002,0.0(B,B)",-0.85(N),-0.9461(T),,chr2,24108652,24108652,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln207Arg/c.620A>G|1453|ATAD2B|protein_coding|CODING|NM_001242338.2|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln207Arg/c.620A>G|1458|ATAD2B|protein_coding|CODING|NM_017552.3|5|1),non_coding_exon_variant(MODIFIER|||n.964A>G||ATAD2B||CODING|NR_125717.1|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,0.999(P),"-2.58,1.26(D,T)",0.0000(T),0.083,-0.004302,4.94,4.94,-0.204000,1.239000,3.641000,0.734000,1.000000,1.000000,12.2427
missense_variant,C2orf44,MISSENSE,NM_025203.2:p.Thr102Met/c.305C>T,aCg/aTg,MODERATE,,0.0984425,0.0367,rs3731620,0.39(T),"0.001,0.001(B,B)",-1.79(N),-1.0502(T),,chr2,24262060,24262060,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr102Met/c.305C>T|622|C2orf44|protein_coding|CODING|NM_001142319.1|2|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr102Met/c.305C>T|721|C2orf44|protein_coding|CODING|NM_025203.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.18,0.0533,0.1402,0.12,0.08,0.14,,0.020393(N),0.000(P),"1.04,1.04,1.04(T,T,T)",0.0002(T),0.056,-0.276795,5.24,2.72,-0.290000,0.405000,3.141000,0.115000,0.543000,1.000000,9.37
missense_variant,TP53I3,MISSENSE,NM_001206802.2:p.Thr230Ala/c.688A>G,Acg/Gcg,MODERATE,,0.0940495,0.0367,rs10209238,0.13(T),0.002(B),,-0.9462(T),,chr2,24300563,24300563,T,C,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr230Ala/c.688A>G|248|TP53I3|protein_coding|CODING|NM_001206802.2|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln295Gln/c.885A>G|332|TP53I3|protein_coding|CODING|NM_004881.4|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln295Gln/c.885A>G|332|TP53I3|protein_coding|CODING|NM_147184.3|6|1),upstream_gene_variant(MODIFIER||1249||125|SF3B6|protein_coding|CODING|NM_016047.3||1),intron_variant(MODIFIER|||c.-290+724T>C|186|FAM228B|protein_coding|CODING|NM_001291328.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.96+724T>C||FAM228B||CODING|NR_111929.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,CD4:H3K18ac,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,CD4:H4K91ac,H1ESC:H3K4me2,CD4:H4K8ac,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,NHEK:H3K4me2,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.1728,0.0533,0.1392,0.12,0.07,0.14,,,1.000(P),"2.57,2.57(T,T)",0.0002(T),.,3.817677,5.07,-3.35,0.533000,-0.222000,-0.622000,0.980000,0.002000,0.000000,2.3949
synonymous_variant,PFN4,SILENT,NM_199346.1:p.Val101Val/c.303A>G,gtA/gtG,LOW,,0.276957,0.1528,rs1056122,,,,,,chr2,24342505,24342505,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val101Val/c.303A>G|129|PFN4|protein_coding|CODING|NM_199346.1|4|1),intron_variant(MODIFIER|||c.-120-15484T>C|186|FAM228B|protein_coding|CODING|NM_001291328.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.263-15484T>C||FAM228B||CODING|NR_111929.1|3|1)",HepG2:H3K27me3,,,,0.4407,0.2075,0.3738,0.32,0.25,0.35,,,,,,,,,,,,,,,,
synonymous_variant,PFN4,SILENT,NM_199346.1:p.Val92Val/c.276C>T,gtC/gtT,LOW,,0.128395,0.0456,rs1134516,,,,,,chr2,24342532,24342532,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val92Val/c.276C>T|129|PFN4|protein_coding|CODING|NM_199346.1|4|1),intron_variant(MODIFIER|||c.-120-15457G>A|186|FAM228B|protein_coding|CODING|NM_001291328.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.263-15457G>A||FAM228B||CODING|NR_111929.1|3|1)",HepG2:H3K27me3,,,,0.2209,0.0793,0.1561,0.15,0.13,0.16,,,,,,,,,,,,,,,,
missense_variant,FAM228B,MISSENSE,NM_001145710.1:p.Glu38Gln/c.112G>C,Gaa/Caa,MODERATE,,0.0938498,0.0377,rs12329297,0.1(T),0.974(D),1.485(L),-1.0466(T),,chr2,24358001,24358001,G,C,het,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu38Gln/c.112G>C|323|FAM228B|protein_coding|CODING|NM_001145710.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),5_prime_UTR_variant(MODIFIER||4290|c.-108G>C|186|FAM228B|protein_coding|CODING|NM_001291328.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.275G>C||FAM228B||CODING|NR_111929.1|4|1)",,,,,0.1728,0.0519,0.1392,,,,,,0.007(P),,0.0035(T),0.262,3.857788,4.85,4.85,0.655000,2.636000,4.662000,0.981000,1.000000,1.000000,14.2048
synonymous_variant,FAM228B,SILENT,NM_001145710.1:p.Asn166Asn/c.498C>T,aaC/aaT,LOW,COSM3766564(1),0.846046,0.9236,rs11693860,,,,,,chr2,24369674,24369674,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn166Asn/c.498C>T|323|FAM228B|protein_coding|CODING|NM_001145710.1|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn29Asn/c.87C>T|186|FAM228B|protein_coding|CODING|NM_001291328.1|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.331+11617C>T||FAM228B||CODING|NR_111929.1|4|1)",,,,,0.953,0.9323,0.9384,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM228B,SILENT,NM_001145710.1:p.Pro245Pro/c.735T>C,ccT/ccC,LOW,COSM3766565(1),0.813898,0.9127,rs4665667,,,,,,chr2,24384424,24384424,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro245Pro/c.735T>C|323|FAM228B|protein_coding|CODING|NM_001145710.1|8|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro108Pro/c.324T>C|186|FAM228B|protein_coding|CODING|NM_001291328.1|8|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.332-2644T>C||FAM228B||CODING|NR_111929.1|4|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.908,0.9078,0.9205,0.82,0.57,0.93,,,,,,,,,,,,,,,,
missense_variant,FAM228B,MISSENSE,NM_001145710.1:p.Gly318Asp/c.953G>A,gGc/gAc,MODERATE,COSM148809(2),0.586661,0.7788,rs2288072,0(D),0.441(B),0(N),-0.9590(T),,chr2,24390517,24390517,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly318Asp/c.953G>A|323|FAM228B|protein_coding|CODING|NM_001145710.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly181Asp/c.542G>A|186|FAM228B|protein_coding|CODING|NM_001291328.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.469-1708G>A||FAM228B||CODING|NR_111929.1|5|1)",HepG2:H3K27me3,,,,0.6002,0.7651,0.6203,0.55,0.34,0.64,,,1.000(P),,0.0000(T),.,0.199090,0.8,-1.6,0.455000,-0.793000,0.718000,0.122000,0.071000,0.047000,2.2951
missense_variant,FAM228A,MISSENSE,NM_001040710.1:p.Tyr140Cys/c.419A>G,tAt/tGt,MODERATE,COSM4133736(1),0.214257,0.1478,rs2288073,,,0.2(N),-0.9792(T),,chr2,24413298,24413298,A,G,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr140Cys/c.419A>G|206|FAM228A|protein_coding|CODING|NM_001040710.1|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",Venous_thromboembolism_gene_x_gene_interaction,,,0.3241,0.147,0.3131,0.25,0.16,0.29,,,1.000(P),,0.0000(T),.,-1.917424,3.64,-1.3,-0.755000,-0.616000,-0.668000,0.018000,0.000000,0.000000,4.2867
missense_variant,ITSN2,MISSENSE,NM_006277.2:p.Ala1534Thr/c.4600G>A,Gcc/Acc,MODERATE,,0.138978,0.123,rs2303291,0.21(T),"0.996,0.992(D,D)",0.695(N),-1.0672(T),,chr2,24431184,24431184,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1534Thr/c.4600G>A|1697|ITSN2|protein_coding|CODING|NM_006277.2|37|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1507Thr/c.4519G>A|1670|ITSN2|protein_coding|CODING|NM_019595.3|36|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1953,0.134,0.2594,0.18,0.06,0.24,,0.002485(U),0.000(P),"0.93,0.93,0.93(T,T,T)",0.0000(T),0.162,2.646229,4.86,4.86,0.542000,2.397000,7.308000,0.526000,0.978000,1.000000,18.3604
synonymous_variant,ITSN2,SILENT,NM_006277.2:p.Leu1441Leu/c.4321T>C,Tta/Cta,LOW,,0.141174,0.124,rs2303296,,,,,,chr2,24432839,24432839,A,G,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1441Leu/c.4321T>C|1697|ITSN2|protein_coding|CODING|NM_006277.2|35|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1414Leu/c.4240T>C|1670|ITSN2|protein_coding|CODING|NM_019595.3|34|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2014,0.1354,0.2634,0.18,0.06,0.25,,,,,,,,,,,,,,,,
missense_variant,ITSN2,MISSENSE,NM_006277.2:p.Arg1337Trp/c.4009C>T,Cgg/Tgg,MODERATE,,0.0103834,0,rs41281481,0(D),"0.999,1.0(D,D)",3.145(M),-0.1492(T),,chr2,24435599,24435599,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1337Trp/c.4009C>T|1697|ITSN2|protein_coding|CODING|NM_006277.2|33|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1310Trp/c.3928C>T|1670|ITSN2|protein_coding|CODING|NM_019595.3|32|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.013,0.0288,0.03,0.01,0.04,,0.004027(U),1.000(D),"-0.11,-0.11,-0.11(T,T,T)",0.2163(T),0.309,3.144904,4.77,4.77,0.650000,2.384000,4.954000,0.976000,0.365000,1.000000,18.1731
missense_variant,ITSN2,MISSENSE,NM_006277.2:p.Val291Ile/c.871G>A,Gtt/Att,MODERATE,COSM3758146(1),0.292133,0.1915,rs7603997,1(T),"0.496,0.496,0.596,0.275(P,P,P,B)",-0.205(N),-1.0570(T),,chr2,24524958,24524958,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val291Ile/c.871G>A|1697|ITSN2|protein_coding|CODING|NM_006277.2|10|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val291Ile/c.871G>A|1670|ITSN2|protein_coding|CODING|NM_019595.3|10|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val291Ile/c.871G>A|1249|ITSN2|protein_coding|CODING|NM_147152.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2658,0.2075,0.3509,0.36,0.42,0.33,,0.002070(N),1.000(P),"1.71,1.71,1.71,1.71,1.71(T,T,T,T,T)",0.0000(T),0.091,-0.178539,4.44,2.11,-0.524000,0.338000,0.343000,0.973000,0.999000,0.991000,9.1297
synonymous_variant,NCOA1,SILENT,NM_003743.4:p.Thr154Thr/c.462G>C,acG/acC,LOW,COSM4133739(1),0.80651,0.996,rs11125744,,,,,,chr2,24905927,24905927,G,C,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr154Thr/c.462G>C|1441|NCOA1|protein_coding|CODING|NM_003743.4|6|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr154Thr/c.462G>C|1399|NCOA1|protein_coding|CODING|NM_147223.2|6|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr154Thr/c.462G>C|1440|NCOA1|protein_coding|CODING|NM_147233.2|6|1)",,,,,0.8292,0.9063,0.8966,0.79,0.57,0.90,,,,,,,,,,,,,,,,
synonymous_variant,NCOA1,SILENT,NM_003743.4:p.Leu1267Leu/c.3801T>G,ctT/ctG,LOW,,0.836062,0.996,rs11125763,,,,,,chr2,24974945,24974945,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu1267Leu/c.3801T>G|1441|NCOA1|protein_coding|CODING|NM_003743.4|18|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu1267Leu/c.3801T>G|1399|NCOA1|protein_coding|CODING|NM_147223.2|18|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu1267Leu/c.3801T>G|1440|NCOA1|protein_coding|CODING|NM_147233.2|18|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.8303,0.9193,0.8976,0.82,0.67,0.90,,,,,,,,,,,,,,,,
missense_variant,CENPO,MISSENSE,NM_024322.2:p.Gln34Arg/c.101A>G,cAg/cGg,MODERATE,,0.132388,0.2063,rs1550116,0.13(T),"0.0,0.0(B,B)",-0.345(N),-1.0101(T),,chr2,25022598,25022598,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln28Arg/c.83A>G|294|CENPO|protein_coding|CODING|NM_001199803.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln34Arg/c.101A>G|300|CENPO|protein_coding|CODING|NM_024322.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0859,0.1138,0.1461,0.14,0.11,0.15,,0.717152(N),1.000(P),"0.92,0.95,0.92(T,T,T)",0.0000(T),0.008,-0.270191,4.75,-3.63,-0.792000,-0.951000,0.288000,0.041000,0.000000,0.000000,6.5348
synonymous_variant,ADCY3,SILENT,NM_004036.3:p.Ser957Ser/c.2871A>G,tcA/tcG,LOW,,0.691294,0.879,rs1127568,,,,,,chr2,25046090,25046090,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser957Ser/c.2871A>G|1144|ADCY3|protein_coding|CODING|NM_004036.3|17|1),downstream_gene_variant(MODIFIER||845||294|CENPO|protein_coding|CODING|NM_001199803.1||1),downstream_gene_variant(MODIFIER||845||300|CENPO|protein_coding|CODING|NM_024322.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6851,0.7695,0.668,0.63,0.55,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ADCY3,SILENT,NM_004036.3:p.Glu742Glu/c.2226A>G,gaA/gaG,LOW,,0.659545,0.878,rs7566416,,,,,,chr2,25050977,25050977,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu742Glu/c.2226A>G|1144|ADCY3|protein_coding|CODING|NM_004036.3|13|1),"NHEK:CTCF,H1ESC:H3K36me3,HepG2:H3K4me2,GM12878:H3K36me3,H1ESC:DNase1,K562:Znf263,HSMM:DNase1,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.683,0.768,0.669,0.59,0.44,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ADCY3,SILENT,NM_004036.3:p.Leu389Leu/c.1167C>G,ctC/ctG,LOW,COSM3766566(1),0.0706869,0.1012,rs2241758,,,,,,chr2,25064157,25064157,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu389Leu/c.1167C>G|1144|ADCY3|protein_coding|CODING|NM_004036.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0153,0.2118,0.0855,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ADCY3,SILENT,NM_004036.3:p.Tyr141Tyr/c.423C>T,taC/taT,LOW,COSM3758150(2),0.101038,0.0446,rs61732745,,,,,,chr2,25141434,25141434,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr141Tyr/c.423C>T|1144|ADCY3|protein_coding|CODING|NM_004036.3|1|1),"H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0297,0.0865,0.0835,0.13,0.21,0.09,,,,,,,,,,,,,,,,
missense_variant,ADCY3,MISSENSE,NM_004036.3:p.Ser107Pro/c.319T>C,Tcc/Ccc,MODERATE,COSM4133745(1),0.566893,0.4286,rs11676272,0.29(T),0.0(B),-0.41(N),-0.9944(T),,chr2,25141538,25141538,A,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser107Pro/c.319T>C|1144|ADCY3|protein_coding|CODING|NM_004036.3|1|1),"H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.4744,0.3876,0.4642,0.60,0.84,0.47,,0.065548(N),1.000(P),"-1.4,-0.96,0.93(T,T,T)",0.0000(T),0.483,-2.164073,4.8,2.94,-0.213000,0.099000,1.285000,0.382000,0.047000,0.799000,4.9246
synonymous_variant,DNAJC27,SILENT,NM_016544.2:p.Pro11Pro/c.33C>T,ccC/ccT,LOW,COSM4133746(1),0.712859,0.744,rs7593864,,,,,,chr2,25194741,25194741,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro11Pro/c.33C>T|177|DNAJC27|protein_coding|CODING|NM_001198559.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro11Pro/c.33C>T|273|DNAJC27|protein_coding|CODING|NM_016544.2|1|1),upstream_gene_variant(MODIFIER||240|||DNAJC27-AS1||NON_CODING|NR_034113.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,K562:SP2,HUVEC:H3K9ac,H1ESC:SP1,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,GM12878:Cfos,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.6094,0.8588,0.7873,0.74,0.67,0.77,,,,,,,,,,,,,,,,
synonymous_variant,EFR3B,SILENT,NM_014971.1:p.Leu505Leu/c.1515G>A,ctG/ctA,LOW,COSM4001620(1),0.294728,0.3948,rs3731631,,,,,,chr2,25359422,25359422,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu505Leu/c.1515G>A|817|EFR3B|protein_coding|CODING|NM_014971.1|14|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1534,0.2954,0.3022,0.30,0.30,0.30,,,,,,,,,,,,,,,,
synonymous_variant,EFR3B,SILENT,NM_014971.1:p.Tyr807Tyr/c.2421T>C,taT/taC,LOW,COSM1407092(2),0.810304,0.9871,rs2164808,,,,,,chr2,25377176,25377176,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr807Tyr/c.2421T>C|817|EFR3B|protein_coding|CODING|NM_014971.1|23|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7413,0.8026,0.6014,0.64,0.85,0.55,,,,,,,,,,,,,,,,
synonymous_variant,DTNB,SILENT,NM_021907.4:p.Ala480Ala/c.1440A>G,gcA/gcG,LOW,,0.239417,0.005,rs7583475,,,,,,chr2,25655772,25655772,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala480Ala/c.1440A>G|620|DTNB|protein_coding|CODING|NM_001256303.1|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala480Ala/c.1440A>G|602|DTNB|protein_coding|CODING|NM_001256304.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala423Ala/c.1269A>G|545|DTNB|protein_coding|CODING|NM_001256308.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala480Ala/c.1440A>G|627|DTNB|protein_coding|CODING|NM_021907.4|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala480Ala/c.1440A>G|597|DTNB|protein_coding|CODING|NM_033147.3|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala450Ala/c.1350A>G|567|DTNB|protein_coding|CODING|NM_033148.3|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala480Ala/c.1440A>G|609|DTNB|protein_coding|CODING|NM_183360.2|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala450Ala/c.1350A>G|560|DTNB|protein_coding|CODING|NM_183361.2|13|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2669,0.2104,0.3489,0.33,0.32,0.33,,,,,,,,,,,,,,,,
missense_variant,KIF3C,MISSENSE,NM_002254.6:p.Gln370Arg/c.1109A>G,cAg/cGg,MODERATE,,1,1,rs1465878,1(T),0.0(B),-0.95(N),-0.9351(T),,chr2,26203678,26203678,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln370Arg/c.1109A>G|793|KIF3C|protein_coding|CODING|NM_002254.6|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.000001(N),1.000(P),"1.01,1.01(T,T)",0.0000(T),0.098,-0.777687,5.32,5.32,-0.215000,1.263000,2.715000,0.966000,1.000000,0.671000,12.9663
synonymous_variant,KIF3C,SILENT,NM_002254.6:p.Ala49Ala/c.147C>T,gcC/gcT,LOW,COSM3758151(1),0.428115,0.0546,rs6721440,,,,,,chr2,26204640,26204640,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala49Ala/c.147C>T|793|KIF3C|protein_coding|CODING|NM_002254.6|1|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.3415,0.3386,0.4553,0.57,0.74,0.48,,,,,,,,,,,,,,,,
missense_variant,GAREML,MISSENSE,NM_001168241.1:p.Gln407Arg/c.1220A>G,cAg/cGg,MODERATE,COSM4133750(1),,,rs181971256,0.5(T),"0.007,0.007(B,B)",-0.49(N),-1.0192(T),,chr2,26407937,26407937,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln407Arg/c.1220A>G|874|GAREML|protein_coding|CODING|NM_001168241.1|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln330Arg/c.989A>G|664|GAREML|protein_coding|CODING|NM_001191033.1|3|1)","H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,K562:CTCF,K562:TFIIIC-110,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,GM12878:PolII,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF",,,,,,,,,,,0.123164(N),0.538(N),"2.11,2.1(T,T)",0.0005(T),0.243,2.880282,3.36,3.36,0.334000,1.534000,3.949000,0.893000,1.000000,1.000000,10.0402
synonymous_variant,GAREML,SILENT,NM_001168241.1:p.Asp449Asp/c.1347T>C,gaT/gaC,LOW,COSM4133751(1),0.919928,0.9603,rs4665833,,,,,,chr2,26408064,26408064,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp449Asp/c.1347T>C|874|GAREML|protein_coding|CODING|NM_001168241.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp372Asp/c.1116T>C|664|GAREML|protein_coding|CODING|NM_001191033.1|3|1)","K562:H3K4me3,K562:PolII,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,K562:TFIIIC-110,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,K562:ELF1,GM12878:PolII,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3,K562:DNase1",,,,0.9693,0.9669,0.9702,,,,,,,,,,,,,,,,,,,
synonymous_variant,GAREML,SILENT,NM_001168241.1:p.Pro571Pro/c.1713C>T,ccC/ccT,LOW,,0.01877,0,rs1019972,,,,,,chr2,26410214,26410214,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro571Pro/c.1713C>T|874|GAREML|protein_coding|CODING|NM_001168241.1|6|1),intron_variant(MODIFIER|||c.1452+30C>T|664|GAREML|protein_coding|CODING|NM_001191033.1|5|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0082,0.0303,0.0487,0.04,0.03,0.05,,,,,,,,,,,,,,,,
missense_variant,GPR113,MISSENSE,NM_001145168.1:p.His599Tyr/c.1795C>T,Cac/Tac,MODERATE,COSM4133754(1),0.671326,0.754,rs7568529,0.28(T),"0.071,0.061,0.071,0.026(B,B,B,B)",1.67(L),-0.9676(T),,chr2,26534801,26534801,G,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His599Tyr/c.1795C>T|1079|GPR113|protein_coding|CODING|NM_001145168.1|11|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His530Tyr/c.1588C>T|997|GPR113|protein_coding|CODING|NM_001145169.1|10|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His400Tyr/c.1198C>T|873|GPR113|protein_coding|CODING|NM_153835.3|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5879,0.7219,0.7028,0.68,0.63,0.71,,,0.998(P),"2.96,2.96,2.96,2.96(T,T,T,T)",0.0000(T),0.124,0.303959,6.11,5.18,0.655000,2.906000,2.306000,0.012000,0.023000,0.061000,9.5221
synonymous_variant,GPR113,SILENT,NM_001145168.1:p.Pro473Pro/c.1419G>C,ccG/ccC,LOW,COSM4133756(1),0.39976,0.3353,rs11886746,,,,,,chr2,26536299,26536299,C,G,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro473Pro/c.1419G>C|1079|GPR113|protein_coding|CODING|NM_001145168.1|9|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro404Pro/c.1212G>C|997|GPR113|protein_coding|CODING|NM_001145169.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro274Pro/c.822G>C|873|GPR113|protein_coding|CODING|NM_153835.3|6|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4785,0.3228,0.328,0.37,0.47,0.32,,,,,,,,,,,,,,,,
missense_variant,GPR113,MISSENSE,NM_001145168.1:p.Ala404Thr/c.1210G>A,Gct/Act,MODERATE,COSM4133759(2),0.663339,0.6687,rs2052937,1(T),"0.0,0.007,0.0,0.0(B,B,B,B)",-1.39(N),-0.9662(T),,chr2,26536694,26536694,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala404Thr/c.1210G>A|1079|GPR113|protein_coding|CODING|NM_001145168.1|8|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala335Thr/c.1003G>A|997|GPR113|protein_coding|CODING|NM_001145169.1|7|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala205Thr/c.613G>A|873|GPR113|protein_coding|CODING|NM_153835.3|5|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.545,0.7133,0.6938,0.69,0.68,0.70,,,1.000(P),"1.72,3.25,3.25,3.25(T,T,T,T)",0.0000(T),0.065,-1.297136,5.8,3.47,-0.254000,0.478000,0.581000,0.070000,0.007000,0.040000,6.8577
synonymous_variant,EPT1,SILENT,NM_033505.2:p.Thr102Thr/c.306T>G,acT/acG,LOW,COSM3933607(2),0.254193,0.2877,rs6748996,,,,,,chr2,26590084,26590084,T,G,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr102Thr/c.306T>G|397|EPT1|protein_coding|CODING|NM_033505.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.317,0.2997,0.3648,0.28,0.12,0.35,,,,,,,,,,,,,,,,
synonymous_variant,EPT1,SILENT,NM_033505.2:p.Ala299Ala/c.897T>C,gcT/gcC,LOW,,0.939097,0.8899,rs934280,,,,,,chr2,26607992,26607992,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala299Ala/c.897T>C|397|EPT1|protein_coding|CODING|NM_033505.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9836,0.9755,0.9702,0.95,0.91,0.97,,,,,,,,,,,,,,,,
synonymous_variant,DRC1,SILENT,NM_145038.3:p.Ala165Ala/c.495T>G,gcT/gcG,LOW,COSM4001625(2),0.623403,0.3323,rs7423300,,,,,,chr2,26647277,26647277,T,G,hom,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala165Ala/c.495T>G|740|DRC1|protein_coding|CODING|NM_145038.3|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7812,0.6571,0.8817,0.79,0.58,0.89,,,,,,,,,,,,,,,,
missense_variant,DRC1,MISSENSE,NM_145038.3:p.Trp399Arg/c.1195T>C,Tgg/Cgg,MODERATE,,0.999201,1,rs939820,0.71(T),0.0(B),-2.125(N),-0.9616(T),,chr2,26667615,26667615,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp399Arg/c.1195T>C|740|DRC1|protein_coding|CODING|NM_145038.3|10|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,0.059257(N),1.000(P),2.77(T),0.0000(T),0.033,-1.481789,5.51,5.51,-0.119000,1.338000,1.540000,0.130000,0.999000,1.000000,9.2584
synonymous_variant,DRC1,SILENT,NM_145038.3:p.Glu608Glu/c.1824A>G,gaA/gaG,LOW,,0.994409,1,rs1402962,,,,,,chr2,26676322,26676322,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu608Glu/c.1824A>G|740|DRC1|protein_coding|CODING|NM_145038.3|14|1),"NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,0.999,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,OTOF,SILENT,NM_001287489.1:p.Leu912Leu/c.2736G>C,ctG/ctC,LOW,COSM3758161(3),0.707867,0.9831,rs4335905,,,,,,chr2,26699126,26699126,C,G,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu912Leu/c.2736G>C|1997|OTOF|protein_coding|CODING|NM_001287489.1|23|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu165Leu/c.495G>C|1230|OTOF|protein_coding|CODING|NM_004802.3|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu912Leu/c.2736G>C|1997|OTOF|protein_coding|CODING|NM_194248.2|23|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu222Leu/c.666G>C|1307|OTOF|protein_coding|CODING|NM_194322.2|5|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu165Leu/c.495G>C|1230|OTOF|protein_coding|CODING|NM_194323.2|6|1)",HepG2:H3K27me3,,RCV000021051.1|RCV000041509.1,,0.5961,0.6657,0.4722,0.53,0.71,0.44,,,,,,,,,,,,,,,,
synonymous_variant,OTOF,SILENT,NM_001287489.1:p.Val860Val/c.2580C>G,gtC/gtG,LOW,COSM1752492(3),0.501597,0.8542,rs2272069,,,,,,chr2,26699855,26699855,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val860Val/c.2580C>G|1997|OTOF|protein_coding|CODING|NM_001287489.1|22|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val113Val/c.339C>G|1230|OTOF|protein_coding|CODING|NM_004802.3|5|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val860Val/c.2580C>G|1997|OTOF|protein_coding|CODING|NM_194248.2|22|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val170Val/c.510C>G|1307|OTOF|protein_coding|CODING|NM_194322.2|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val113Val/c.339C>G|1230|OTOF|protein_coding|CODING|NM_194323.2|5|1)",HepG2:H3K27me3,,RCV000021050.1|RCV000041505.1,,0.5153,0.5418,0.4225,0.34,0.27,0.38,,,,,,,,,,,,,,,,
missense_variant,OTOF,MISSENSE,NM_194322.2:p.Pro21Leu/c.62C>T,cCc/cTc,MODERATE,COSM442715(3),0.602636,0.9841,rs4665855,,0.0(B),,-0.9994(T),,chr2,26700700,26700700,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro21Leu/c.62C>T|1307|OTOF|protein_coding|CODING|NM_194322.2|1|1),intron_variant(MODIFIER|||c.-28+12C>T|1230|OTOF|protein_coding|CODING|NM_004802.3|1|1),intron_variant(MODIFIER|||c.-28+12C>T|1230|OTOF|protein_coding|CODING|NM_194323.2|1|1),intron_variant(MODIFIER|||c.2215-83C>T|1997|OTOF|protein_coding|CODING|NM_001287489.1|18|1),intron_variant(MODIFIER|||c.2215-83C>T|1997|OTOF|protein_coding|CODING|NM_194248.2|18|1)","HeLa-S3:DNase1,HepG2:H3K27me3",,RCV000041487.1,,0.5757,0.5994,0.4414,0.41,0.44,0.39,,,1.000(P),-1.05(T),0.0000(T),0.021,-0.215799,3.62,-0.572,-1.581000,-0.112000,0.242000,0.018000,0.000000,0.000000,0.7994
synonymous_variant,OTOF,SILENT,NM_001287489.1:p.Lys315Lys/c.945G>A,aaG/aaA,LOW,COSM442718(1),0.0559105,0.001,rs41288779,,,,,,chr2,26712561,26712561,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys315Lys/c.945G>A|1997|OTOF|protein_coding|CODING|NM_001287489.1|10|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys315Lys/c.945G>A|1997|OTOF|protein_coding|CODING|NM_194248.2|10|1)","NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000021076.1|RCV000041591.1,,0.0245,0.0548,0.0586,0.08,0.12,0.06,,,,,,,,,,,,,,,,
synonymous_variant,OTOF,SILENT,NM_001287489.1:p.Thr124Thr/c.372A>G,acA/acG,LOW,COSM3758162(1),0.255391,0.5248,rs11687696,,,,,,chr2,26739423,26739423,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr124Thr/c.372A>G|1997|OTOF|protein_coding|CODING|NM_001287489.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr124Thr/c.372A>G|1997|OTOF|protein_coding|CODING|NM_194248.2|5|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000021059.1|RCV000041530.1,,0.2403,0.2536,0.3012,0.21,0.08,0.28,,,,,,,,,,,,,,,,
missense_variant,C2orf70,MISSENSE,NM_001105519.1:p.Gln66His/c.198A>T,caA/caT,MODERATE,COSM4001631(2),0.334465,0.623,rs13002673,0.04(D),0.217(B),0(N),-0.9579(T),,chr2,26798893,26798893,A,T,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln66His/c.198A>T|201|C2orf70|protein_coding|CODING|NM_001105519.1|2|1),"GM06990:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4356,0.2262,0.336,0.24,0.13,0.30,,0.188809(N),1.000(P),0.79(T),0.0000(T),0.044,0.399809,4.43,-1.1,0.379000,-0.206000,-1.156000,0.252000,0.008000,0.000000,4.1823
synonymous_variant,C2orf70,SILENT,NM_001105519.1:p.Thr112Thr/c.336G>A,acG/acA,LOW,COSM4001632(1),0.359824,0.623,rs2272464,0(D),,,-0.9972(T),,chr2,26799031,26799031,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr112Thr/c.336G>A|201|C2orf70|protein_coding|CODING|NM_001105519.1|2|1),"GM06990:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4489,0.232,0.336,0.26,0.18,0.30,,,0.000(P),,0.0000(T),.,0.783761,4.8,-9.61,-1.621000,-3.293000,-3.581000,0.002000,0.000000,0.000000,1.4254
synonymous_variant,C2orf70,SILENT,NM_001105519.1:p.Thr129Thr/c.387G>A,acG/acA,LOW,,0.341254,0.2183,rs1053807,0(D),,,-1.0315(T),,chr2,26800422,26800422,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr129Thr/c.387G>A|201|C2orf70|protein_coding|CODING|NM_001105519.1|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3569,0.5821,0.4642,0.40,0.24,0.48,,,0.000(P),,0.0000(T),.,-1.334981,5.27,-10.5,-3.125000,-4.527000,-5.452000,0.003000,0.023000,0.000000,1.084
missense_variant,CIB4,MISSENSE,NM_001029881.1:p.His181Arg/c.542A>G,cAc/cGc,MODERATE,,0.585064,0.6855,rs935172,1(T),0.0(B),-1.945(N),-0.9104(T),,chr2,26804247,26804247,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His181Arg/c.542A>G|185|CIB4|protein_coding|CODING|NM_001029881.1|7|1),downstream_gene_variant(MODIFIER||1852||201|C2orf70|protein_coding|CODING|NM_001105519.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5971,0.6326,0.504,0.51,0.53,0.50,,0.001506(N),0.949(P),-0.19(T),0.0000(T),0.235,-0.074965,3.81,2.54,0.533000,1.727000,1.870000,0.959000,1.000000,1.000000,6.7041
synonymous_variant,DPYSL5,SILENT,NM_001253723.1:p.Gly558Gly/c.1674C>A,ggC/ggA,LOW,COSM3758164(1),0.57488,0.7083,rs11126784,,,,,,chr2,27169842,27169842,C,A,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly558Gly/c.1674C>A|564|DPYSL5|protein_coding|CODING|NM_001253723.1|13|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly558Gly/c.1674C>A|564|DPYSL5|protein_coding|CODING|NM_001253724.1|13|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly558Gly/c.1674C>A|564|DPYSL5|protein_coding|CODING|NM_020134.3|13|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6769,0.4625,0.6262,0.55,0.44,0.61,,,,,,,,,,,,,,,,
synonymous_variant,MAPRE3,SILENT,NM_012326.2:p.His69His/c.207C>T,caC/caT,LOW,,0.880192,0.8413,rs10865456,,,,,,chr2,27246285,27246285,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His69His/c.207C>T|281|MAPRE3|protein_coding|CODING|NM_012326.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.8545,0.9274,0.90,0.85,0.93,,,,,,,,,,,,,,,,
missense_variant,TMEM214,MISSENSE,NM_017727.4:p.Val351Met/c.1051G>A,Gtg/Atg,MODERATE,COSM3758166(1),0.303115,0.0655,rs1124649,0.07(T),"0.995,0.991(D,D)",2.255(M),-1.0262(T),,chr2,27260469,27260469,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val306Met/c.916G>A|644|TMEM214|protein_coding|CODING|NM_001083590.1|8|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val351Met/c.1051G>A|689|TMEM214|protein_coding|CODING|NM_017727.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.4006,0.3091,0.34,0.42,0.31,,0.000001(D),0.000(P),"0.51,0.51(T,T)",0.0000(T),0.38,3.915582,5.69,5.69,0.561000,2.700000,9.222000,0.984000,1.000000,1.000000,17.5913
missense_variant,EMILIN1,MISSENSE,NM_007046.3:p.Gln149Arg/c.446A>G,cAg/cGg,MODERATE,COSM4133770(1),0.96885,1,rs2736976,0.9(T),0.0(B),-0.55(N),-0.9863(T),,chr2,27303755,27303755,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln149Arg/c.446A>G|1016|EMILIN1|protein_coding|CODING|NM_007046.3|3|1),"IMR90:H3K4me2,IMR90:H3K36me3,IMR90:H3K27ac",,,,1,0.9841,0.999,0.98,0.93,1.00,,0.592507(N),1.000(P),0.06(T),0.0000(T),0.032,-1.347370,5.95,0.55,-0.708000,-0.045000,0.009000,0.072000,0.664000,0.002000,6.151
missense_variant,KHK,MISSENSE,NM_000221.2:p.Val49Ile/c.145G>A,Gtt/Att,MODERATE,COSM1407364(3),0.33147,0.2312,rs2304681,0.47(T),"0.012,0.145,0.012(B,B,B)",2.1(M),-0.9373(T),,chr2,27315252,27315252,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val49Ile/c.145G>A|298|KHK|protein_coding|CODING|NM_000221.2|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val49Ile/c.145G>A|298|KHK|protein_coding|CODING|NM_006488.2|2|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.3037,0.5043,0.3767,0.36,0.32,0.38,,0.000205(N),0.006(P),"-1.13,-1.13,-1.13(T,T,T)",0.0000(T),0.063,3.900193,5.5,2.71,0.462000,0.701000,4.090000,0.966000,0.013000,1.000000,7.773
missense_variant,CGREF1,MISSENSE,NM_001166241.1:p.Gly61Ser/c.181G>A,Ggc/Agc,MODERATE,,0.291733,0.2351,rs1131375,0.5(T),0.432(B),0(N),-0.9834(T),,chr2,27323385,27323385,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly61Ser/c.181G>A|112|CGREF1|protein_coding|CODING|NM_001166241.1|6|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu104Leu/c.312G>A|130|CGREF1|protein_coding|CODING|NM_001301324.1|5|1),3_prime_UTR_variant(MODIFIER||767|c.*767C>T|298|KHK|protein_coding|CODING|NM_000221.2|8|1),3_prime_UTR_variant(MODIFIER||767|c.*767C>T|298|KHK|protein_coding|CODING|NM_006488.2|8|1),downstream_gene_variant(MODIFIER||77||318|CGREF1|protein_coding|CODING|NM_001166239.1||1),downstream_gene_variant(MODIFIER||77||318|CGREF1|protein_coding|CODING|NM_006569.5||1),intron_variant(MODIFIER|||c.343-677G>A|132|CGREF1|protein_coding|CODING|NM_001166240.1|5|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3078,0.4798,0.3738,0.30,0.16,0.36,,,1.000(P),0.53(T),0.0000(T),0.049,2.403180,3.33,0.334,0.561000,0.053000,-0.035000,0.566000,0.001000,0.001000,1.5077
synonymous_variant,CGREF1,SILENT,NM_001166239.1:p.Thr125Thr/c.375C>G,acC/acG,LOW,COSM3758173(1),0.574681,0.7669,rs2384571,,,,,,chr2,27324724,27324724,G,C,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr125Thr/c.375C>G|318|CGREF1|protein_coding|CODING|NM_001166239.1|6|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr125Thr/c.375C>G|318|CGREF1|protein_coding|CODING|NM_006569.5|6|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr29Thr/c.87C>G|112|CGREF1|protein_coding|CODING|NM_001166241.1|5|1),downstream_gene_variant(MODIFIER||1105||298|KHK|protein_coding|CODING|NM_000221.2||1),downstream_gene_variant(MODIFIER||1105||298|KHK|protein_coding|CODING|NM_006488.2||1),intron_variant(MODIFIER|||c.342+241C>G|132|CGREF1|protein_coding|CODING|NM_001166240.1|5|1),intron_variant(MODIFIER|||c.286+159C>G|130|CGREF1|protein_coding|CODING|NM_001301324.1|4|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.682,0.4568,0.6183,0.55,0.42,0.62,,,,,,,,,,,,,,,,
synonymous_variant,CGREF1,SILENT,NM_001166239.1:p.Ile116Ile/c.348C>A,atC/atA,LOW,COSM3758174(1),0.54353,0.7619,rs2384572,,,,,,chr2,27324751,27324751,G,T,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile116Ile/c.348C>A|318|CGREF1|protein_coding|CODING|NM_001166239.1|6|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile116Ile/c.348C>A|318|CGREF1|protein_coding|CODING|NM_006569.5|6|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile20Ile/c.60C>A|112|CGREF1|protein_coding|CODING|NM_001166241.1|5|1),downstream_gene_variant(MODIFIER||1132||298|KHK|protein_coding|CODING|NM_000221.2||1),downstream_gene_variant(MODIFIER||1132||298|KHK|protein_coding|CODING|NM_006488.2||1),intron_variant(MODIFIER|||c.342+214C>A|132|CGREF1|protein_coding|CODING|NM_001166240.1|5|1),intron_variant(MODIFIER|||c.286+132C>A|130|CGREF1|protein_coding|CODING|NM_001301324.1|4|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.682,0.4481,0.6193,0.51,0.31,0.61,,,,,,,,,,,,,,,,
missense_variant,ABHD1,MISSENSE,NM_032604.3:p.Asp137Glu/c.411T>G,gaT/gaG,MODERATE,,0.983427,1,rs6715286,0.39(T),0.001(B),-0.39(N),-1.0393(T),,chr2,27351948,27351948,T,G,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp137Glu/c.411T>G|405|ABHD1|protein_coding|CODING|NM_032604.3|3|1),downstream_gene_variant(MODIFIER||1677||417|PREB|protein_coding|CODING|NM_013388.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.95,1.00,,0.002398(N),1.000(P),"3.2,3.2(T,T)",0.0000(T),0.073,-0.475035,4.82,1.94,-0.217000,-0.032000,0.092000,0.739000,0.048000,0.025000,3.78
missense_variant,SLC5A6,MISSENSE,NM_021095.2:p.Ser481Phe/c.1442C>T,tCc/tTc,MODERATE,COSM4133773(1),0.532548,0.8492,rs1395,0.05(D),0.011(B),1.845(L),-0.9192(T),,chr2,27424636,27424636,G,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser481Phe/c.1442C>T|635|SLC5A6|protein_coding|CODING|NM_021095.2|14|1),non_coding_exon_variant(MODIFIER|||n.2289C>T||SLC5A6||CODING|NR_028323.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.547,0.5245,0.6928,0.54,0.25,0.69,,0.400532(N),0.072(P),"-2.11,-2.11(D,D)",0.0000(T),0.13,2.234358,5.66,4.78,0.563000,1.391000,2.014000,0.225000,0.868000,0.731000,12.5598
synonymous_variant,SLC5A6,SILENT,NM_021095.2:p.Ile219Ile/c.657T>C,atT/atC,LOW,,0.998602,1,rs1275524,,,,,,chr2,27428295,27428295,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile219Ile/c.657T>C|635|SLC5A6|protein_coding|CODING|NM_021095.2|7|1),non_coding_exon_variant(MODIFIER|||n.1152T>C||SLC5A6||CODING|NR_028323.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,ATRAID,MISSENSE,NM_080592.3:p.Asp60Gly/c.179A>G,gAc/gGc,MODERATE,COSM4133777(1),0.904353,1,rs1275533,0.9(T),0.0(B),-1.245(N),-0.9842(T),,chr2,27435250,27435250,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp60Gly/c.179A>G|284|ATRAID|protein_coding|CODING|NM_080592.3|1|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp5Gly/c.14A>G|229|ATRAID|protein_coding|CODING|NM_001170795.1|1|1),5_prime_UTR_variant(MODIFIER||870|c.-301A>G|171|ATRAID|protein_coding|CODING|NM_016085.4|1|1),upstream_gene_variant(MODIFIER||75||635|SLC5A6|protein_coding|CODING|NM_021095.2||1),upstream_gene_variant(MODIFIER||75|||SLC5A6||CODING|NR_028323.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:THAP1,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,CD4:H2BK12ac,K562:DNase1,IMR90:H4K8ac",,,,0.998,0.9496,0.9861,0.90,0.74,0.98,,0.192049(N),1.000(P),0.8(T),0.0000(T),0.033,-0.021157,5.06,0.343,-0.320000,-0.499000,0.029000,0.008000,0.000000,0.000000,0.7907
synonymous_variant,CAD,SILENT,NM_004341.3:p.Thr41Thr/c.123C>T,acC/acT,LOW,,0.995807,1,rs1275536,,,,,,chr2,27440785,27440785,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr41Thr/c.123C>T|2225|CAD|protein_coding|CODING|NM_004341.3|2|1),downstream_gene_variant(MODIFIER||739||229|ATRAID|protein_coding|CODING|NM_001170795.1||1),downstream_gene_variant(MODIFIER||739||171|ATRAID|protein_coding|CODING|NM_016085.4||1),downstream_gene_variant(MODIFIER||739||284|ATRAID|protein_coding|CODING|NM_080592.3||1)","H1ESC:PolII,CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CAD,SILENT,NM_004341.3:p.Ala1591Ala/c.4773A>G,gcA/gcG,LOW,,0.454673,0.1488,rs1141313,,,,-1.0279(T),,chr2,27460968,27460968,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1591Ala/c.4773A>G|2225|CAD|protein_coding|CODING|NM_004341.3|30|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4141,0.4683,0.2883,0.45,0.75,0.30,,,0.000(P),,0.0000(T),.,-0.727540,4.8,-9.6,-1.195000,-2.338000,-4.974000,0.107000,0.529000,0.000000,2.9165
synonymous_variant,CAD,SILENT,NM_004341.3:p.Asp1686Asp/c.5058C>T,gaC/gaT,LOW,,0.000798722,0,rs61757649,,,,,,chr2,27461496,27461496,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1686Asp/c.5058C>T|2225|CAD|protein_coding|CODING|NM_004341.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.004,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,CAD,SILENT,NM_004341.3:p.Pro1743Pro/c.5229C>T,ccC/ccT,LOW,COSM3758180(1),0.265575,0.1488,rs3739092,0.14(T),,,-1.0276(T),,chr2,27462076,27462076,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1743Pro/c.5229C>T|2225|CAD|protein_coding|CODING|NM_004341.3|32|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3476,0.3689,0.2237,0.23,0.24,0.23,,0.000000(D),0.000(P),,0.0000(T),.,0.550843,5.16,-5.32,-1.943000,-2.352000,-3.104000,0.902000,0.001000,0.000000,4.5504
synonymous_variant,GTF3C2,SILENT,NM_001035521.2:p.Pro782Pro/c.2346T>C,ccT/ccC,LOW,,0.45028,0.1647,rs1049817,,,,-1.0035(T),,chr2,27550967,27550967,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro782Pro/c.2346T>C|911|GTF3C2|protein_coding|CODING|NM_001035521.2|17|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro782Pro/c.2346T>C|911|GTF3C2|protein_coding|CODING|NM_001521.3|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4049,0.4755,0.3807,0.49,0.68,0.39,,,0.000(P),,0.0000(T),.,0.689087,5.16,2.32,-0.119000,0.197000,-0.432000,0.961000,0.999000,0.305000,4.5341
synonymous_variant,IFT172,SILENT,NM_015662.2:p.Ser1305Ser/c.3915T>A,tcT/tcA,LOW,,0.353634,0.1667,rs56076827,,,,-0.9869(T),,chr2,27676287,27676287,A,T,het,synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser1305Ser/c.3915T>A|1749|IFT172|protein_coding|CODING|NM_015662.2|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4356,0.4539,0.3678,0.38,0.37,0.38,,,0.986(P),,0.0000(T),.,1.401574,5.26,-10.5,0.260000,-2.461000,-0.796000,0.137000,0.001000,0.037000,1.3346
missense_variant,GCKR,MISSENSE,NM_001486.3:p.Leu446Pro/c.1337T>C,cTg/cCg,MODERATE,COSM4133785(1),0.706669,0.5188,rs1260326,1(T),0.0(B),,-1.0488(T),,chr2,27730940,27730940,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu446Pro/c.1337T>C|625|GCKR|protein_coding|CODING|NM_001486.3|15|1),splice_region_variant(LOW|||c.1337T>C|625|GCKR|protein_coding|CODING|NM_001486.3|15|1)","GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3","Glycemic_traits_pregnancy,Glycemic_traits_pregnancy,Hypertriglyceridemia,Urate_levels,Lipoprotein_associated_phospholipase_A2_activity_and_mass,Serum_albumin_level,Serum_albumin_level,Serum_albumin_level,Serum_total_protein_level,Serum_total_protein_level,Metabolite_levels,Non_albumin_protein_levels,Metabolite_levels,Platelet_counts,Liver_enzyme_levels_gamma_glutamyl_transferase,Cardiovascular_disease_risk_factors,C_reactive_protein,Cholesterol_total,Triglycerides,Hypertriglyceridemia,Chronic_kidney_disease,Hematological_and_biochemical_traits,Triglycerides,Two_hour_glucose_challenge,Lipid_metabolism_phenotypes,Lipid_metabolism_phenotypes,Lipid_metabolism_phenotypes,Lipid_metabolism_phenotypes,Lipid_metabolism_phenotypes,Lipid_metabolism_phenotypes,Triglycerides,Metabolic_traits,Waist_circumference_and_related_phenotypes",RCV000009294.1,,0.7996,0.6383,0.5895,0.68,0.86,0.58,,0.077250(N),0.267(P),"2.31,1.99(T,T)",0.0000(T),0.368,-2.287046,3.83,2.95,-0.726000,0.409000,0.075000,0.015000,0.994000,0.996000,6.3237
missense_variant,C2orf16,MISSENSE,NM_032266.3:p.Thr655Ser/c.1964C>G,aCt/aGt,MODERATE,,0.659545,0.8462,rs1919125,0.69(T),0.001(B),0.205(N),-1.0556(T),,chr2,27801403,27801403,C,G,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr655Ser/c.1964C>G|1984|C2orf16|protein_coding|CODING|NM_032266.3|1|1),,,,,0.5082,0.6888,0.498,0.56,0.69,0.50,,,1.000(P),3.41(T),0.0000(T),0.014,-1.181599,4.27,-0.677,-1.482000,-0.356000,-0.497000,0.033000,0.040000,0.001000,5.683
missense_variant,C2orf16,MISSENSE,NM_032266.3:p.Ala660Glu/c.1979C>A,gCa/gAa,MODERATE,COSM4133787(1),0.659545,0.8462,rs1919126,0.24(T),0.001(B),0.805(L),-1.0646(T),,chr2,27801418,27801418,C,A,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala660Glu/c.1979C>A|1984|C2orf16|protein_coding|CODING|NM_032266.3|1|1),,,,,0.5082,0.6888,0.498,0.56,0.69,0.50,,,1.000(P),3.05(T),0.0000(T),0.043,-0.078286,4.83,-3.09,-0.363000,-1.023000,-1.056000,0.421000,0.604000,0.755000,1.8543
synonymous_variant,C2orf16,SILENT,NM_032266.3:p.Leu1122Leu/c.3366A>G,ctA/ctG,LOW,COSM3758185(1),0.204673,0.3383,rs3811644,,,,,,chr2,27802805,27802805,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1122Leu/c.3366A>G|1984|C2orf16|protein_coding|CODING|NM_032266.3|1|1),HepG2:H3K27me3,,,,0.3333,0.111,0.2137,0.16,0.08,0.20,,,,,,,,,,,,,,,,
synonymous_variant,C2orf16,SILENT,NM_032266.3:p.Thr1280Thr/c.3840C>T,acC/acT,LOW,,0.0113818,0.002,rs145678525,,,,,,chr2,27803279,27803279,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1280Thr/c.3840C>T|1984|C2orf16|protein_coding|CODING|NM_032266.3|1|1),HepG2:H3K27me3,,,,0.0286,0.0029,0.0209,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,C2orf16,MISSENSE,NM_032266.3:p.Ser1665Pro/c.4993T>C,Tcc/Ccc,MODERATE,,0.694489,0.8452,rs28381983,1(T),0.0(B),-1.175(N),-0.9649(T),,chr2,27804432,27804432,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser1665Pro/c.4993T>C|1984|C2orf16|protein_coding|CODING|NM_032266.3|1|1),upstream_gene_variant(MODIFIER||1404||538|ZNF512|protein_coding|CODING|NM_001271286.1||1),upstream_gene_variant(MODIFIER||1404||490|ZNF512|protein_coding|CODING|NM_001271287.1||1),upstream_gene_variant(MODIFIER||1404||490|ZNF512|protein_coding|CODING|NM_001271288.1||1),upstream_gene_variant(MODIFIER||1404||462|ZNF512|protein_coding|CODING|NM_001271289.1||1),upstream_gene_variant(MODIFIER||1404||490|ZNF512|protein_coding|CODING|NM_001271318.1||1),upstream_gene_variant(MODIFIER||1404||567|ZNF512|protein_coding|CODING|NM_032434.3||1)","CD4:H2BK20ac,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.5082,0.7147,0.506,0.59,0.78,0.50,,,1.000(P),3.55(T),0.0000(T),0.047,-0.667074,3.71,-5.11,-0.642000,-1.880000,-2.659000,0.002000,0.000000,0.000000,0.1883
synonymous_variant,ZNF512,SILENT,NM_032434.3:p.Leu385Leu/c.1155C>A,ctC/ctA,LOW,,0.652756,0.8452,rs11127071,,,,,,chr2,27838058,27838058,C,A,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu356Leu/c.1068C>A|538|ZNF512|protein_coding|CODING|NM_001271286.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu308Leu/c.924C>A|490|ZNF512|protein_coding|CODING|NM_001271287.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu308Leu/c.924C>A|490|ZNF512|protein_coding|CODING|NM_001271288.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu280Leu/c.840C>A|462|ZNF512|protein_coding|CODING|NM_001271289.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu308Leu/c.924C>A|490|ZNF512|protein_coding|CODING|NM_001271318.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu385Leu/c.1155C>A|567|ZNF512|protein_coding|CODING|NM_032434.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5061,0.6873,0.497,0.55,0.67,0.49,,,,,,,,,,,,,,,,
missense_variant,GPN1,MISSENSE,NM_007266.3:p.Arg385Ile/c.1154G>T,aGa/aTa,MODERATE,,0.000199681,0.001,rs35943531,0(D),"0.177,0.205,0.102(B,B,B)",1.7(L),-0.9171(T),,chr2,27873054,27873054,G,T,het,"missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg359Ile/c.1076G>T|362|GPN1|protein_coding|CODING|NM_001145047.1|15|1),missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg292Ile/c.875G>T|295|GPN1|protein_coding|CODING|NM_001145048.1|14|1),missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg276Ile/c.827G>T|279|GPN1|protein_coding|CODING|NM_001145049.1|12|1),missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg385Ile/c.1154G>T|388|GPN1|protein_coding|CODING|NM_007266.3|14|1),downstream_gene_variant(MODIFIER||622||414|SUPT7L|protein_coding|CODING|NM_001282729.1||1),downstream_gene_variant(MODIFIER||622||412|SUPT7L|protein_coding|CODING|NM_001282730.1||1),downstream_gene_variant(MODIFIER||622||412|SUPT7L|protein_coding|CODING|NM_001282731.1||1),downstream_gene_variant(MODIFIER||622||279|SUPT7L|protein_coding|CODING|NM_001282732.1||1),downstream_gene_variant(MODIFIER||622||414|SUPT7L|protein_coding|CODING|NM_014860.2||1),non_coding_exon_variant(MODIFIER|||n.1068G>T||GPN1||CODING|NR_026735.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0,0.00,0.00,0.00,,0.000075(D),1.000(D),"0.76,0.77(T,T)",0.1203(T),0.599,3.704518,5.17,4.3,0.655000,1.399000,2.355000,0.799000,0.981000,1.000000,10.8554
missense_variant,SLC4A1AP,MISSENSE,NM_018158.2:p.Pro139Thr/c.415C>A,Ccg/Acg,MODERATE,COSM4133788(1),0.339058,0.0794,rs9678851,0.67(T),0.014(B),1.39(L),-0.9059(T),,chr2,27887034,27887034,C,A,het,"missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro139Thr/c.415C>A|796|SLC4A1AP|protein_coding|CODING|NM_018158.2|1|1),upstream_gene_variant(MODIFIER||327||414|SUPT7L|protein_coding|CODING|NM_001282729.1||1),upstream_gene_variant(MODIFIER||327||412|SUPT7L|protein_coding|CODING|NM_001282730.1||1),upstream_gene_variant(MODIFIER||327||412|SUPT7L|protein_coding|CODING|NM_001282731.1||1),upstream_gene_variant(MODIFIER||327||279|SUPT7L|protein_coding|CODING|NM_001282732.1||1),upstream_gene_variant(MODIFIER||327||414|SUPT7L|protein_coding|CODING|NM_014860.2||1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.5092,0.3501,0.5388,0.48,0.31,0.56,,0.940809(N),1.000(P),1.28(T),0.0000(T),0.019,1.740201,4.7,-1.94,-0.266000,-0.042000,-0.550000,0.022000,0.000000,0.000000,7.7146
synonymous_variant,PLB1,SILENT,NM_153021.4:p.Pro820Pro/c.2460C>T,ccC/ccT,LOW,COSM1565603(2),0.0373403,0,rs35746006,0.06(T),,,-1.0769(T),,chr2,28821613,28821613,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro809Pro/c.2427C>T|1447|PLB1|protein_coding|CODING|NM_001170585.1|34|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro820Pro/c.2460C>T|1458|PLB1|protein_coding|CODING|NM_153021.4|35|1)","CD4:H2AK5ac,CD4:H4K91ac,HepG2:H3K27me3",,,,0.0327,0.062,0.1034,0.08,0.02,0.11,,0.000982(D),0.000(P),1.92(T),0.0010(T),.,0.441408,5.84,-3.04,-1.434000,-0.131000,-1.888000,0.589000,0.980000,0.014000,1.0688
missense_variant,PLB1,MISSENSE,NM_153021.4:p.His879Asp/c.2635C>G,Cac/Gac,MODERATE,COSM3758194(1),0.64976,0.878,rs7601771,,,-1.95(N),-0.9789(T),,chr2,28824793,28824793,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His868Asp/c.2602C>G|1447|PLB1|protein_coding|CODING|NM_001170585.1|37|1),missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His879Asp/c.2635C>G|1458|PLB1|protein_coding|CODING|NM_153021.4|38|1)","CD4:H4K91ac,HepG2:H3K27me3",,,,0.5143,0.585,0.5765,0.57,0.65,0.53,,,1.000(P),,0.0000(T),.,-2.297355,5.43,1.5,-0.120000,-0.130000,-0.309000,0.001000,0.000000,0.000000,1.6046
missense_variant,PLB1,MISSENSE,NM_153021.4:p.Ala987Val/c.2960C>T,gCg/gTg,MODERATE,COSM3758195(1),0.043131,0,rs34289907,0.1(T),"0.287,0.513(B,P)",1.905(M),-0.9485(T),,chr2,28827625,28827625,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala976Val/c.2927C>T|1447|PLB1|protein_coding|CODING|NM_001170585.1|40|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala987Val/c.2960C>T|1458|PLB1|protein_coding|CODING|NM_153021.4|41|1),splice_region_variant(LOW|||c.2927C>T|1447|PLB1|protein_coding|CODING|NM_001170585.1|40|1),splice_region_variant(LOW|||c.2960C>T|1458|PLB1|protein_coding|CODING|NM_153021.4|41|1)",HepG2:H3K27me3,,,,0.0337,0.0634,0.1054,0.08,0.03,0.11,,0.288560(N),0.000(P),"0.5,0.5(T,T)",0.0037(T),0.248,3.314710,5.2,-5.37,-0.181000,-0.605000,-0.209000,0.354000,0.048000,0.007000,8.8365
missense_variant,PLB1,MISSENSE,NM_153021.4:p.Ala1318Val/c.3953C>T,gCg/gTg,MODERATE,COSM3758197(1),0.253395,0.3204,rs2199619,0.11(T),"0.655,0.766(P,P)",2.06(M),-1.0487(T),,chr2,28854958,28854958,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1307Val/c.3920C>T|1447|PLB1|protein_coding|CODING|NM_001170585.1|54|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1318Val/c.3953C>T|1458|PLB1|protein_coding|CODING|NM_153021.4|55|1)","CD4:H2BK20ac,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2863,0.1844,0.2823,0.25,0.22,0.27,,0.124729(N),0.997(P),"1.4,1.4,1.4(T,T,T)",0.0000(T),0.518,3.349364,5.37,4.49,0.655000,1.290000,2.540000,0.001000,0.001000,0.011000,9.8924
synonymous_variant,PLB1,SILENT,NM_153021.4:p.Leu1404Leu/c.4210T>C,Ttg/Ctg,LOW,,0.38738,0.3591,rs2272387,,,,-0.9168(T),,chr2,28865760,28865760,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1393Leu/c.4177T>C|1447|PLB1|protein_coding|CODING|NM_001170585.1|57|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1404Leu/c.4210T>C|1458|PLB1|protein_coding|CODING|NM_153021.4|58|1)",HepG2:H3K27me3,,,,0.3313,0.2637,0.4125,0.42,0.49,0.39,,,1.000(P),,0.0000(T),.,0.154611,5.7,2.85,-0.119000,0.053000,-0.364000,0.007000,0.001000,0.000000,2.6537
synonymous_variant,PPP1CB,SILENT,NM_002709.2:p.Gln67Gln/c.201A>G,caA/caG,LOW,,0.495407,0.2153,rs1128416,,,,,,chr2,29001691,29001691,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln67Gln/c.201A>G|327|PPP1CB|protein_coding|CODING|NM_002709.2|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln67Gln/c.201A>G|327|PPP1CB|protein_coding|CODING|NM_206876.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6002,0.4395,0.6064,0.60,0.58,0.60,,,,,,,,,,,,,,,,
synonymous_variant,WDR43,SILENT,NM_015131.1:p.Gly166Gly/c.498C>G,ggC/ggG,LOW,,0.699281,0.8591,rs6715296,,,,,,chr2,29135468,29135468,C,G,hom,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly166Gly/c.498C>G|677|WDR43|protein_coding|CODING|NM_015131.1|4|1),upstream_gene_variant(MODIFIER||1060|||SNORD92||NON_CODING|NR_003074.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7311,0.7622,0.7048,0.67,0.57,0.72,,,,,,,,,,,,,,,,
missense_variant,WDR43,MISSENSE,NM_015131.1:p.Ala414Pro/c.1240G>C,Gct/Cct,MODERATE,,,,,0.26(T),0.001(B),0.97(L),-0.6726(T),,chr2,29150501,29150501,G,C,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala414Pro/c.1240G>C|677|WDR43|protein_coding|CODING|NM_015131.1|10|1),downstream_gene_variant(MODIFIER||493|||SNORD53||NON_CODING|NR_002741.1||1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000004(N),0.913(D),-0.92(T),0.2692(T),0.232,2.222847,5.69,4.8,0.650000,1.362000,1.104000,0.681000,0.841000,0.973000,16.2898
synonymous_variant,WDR43,SILENT,NM_015131.1:p.Glu439Glu/c.1317A>G,gaA/gaG,LOW,,0.417732,0.0704,rs1140697,,,,,,chr2,29152456,29152456,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu439Glu/c.1317A>G|677|WDR43|protein_coding|CODING|NM_015131.1|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5685,0.4265,0.6889,0.63,0.43,0.72,,,,,,,,,,,,,,,,
synonymous_variant,WDR43,SILENT,NM_015131.1:p.Asp667Asp/c.2001T>C,gaT/gaC,LOW,,0.755192,0.8601,rs3087649,,,,,,chr2,29169612,29169612,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp667Asp/c.2001T>C|677|WDR43|protein_coding|CODING|NM_015131.1|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7372,0.7911,0.7068,0.72,0.73,0.72,,,,,,,,,,,,,,,,
synonymous_variant,FAM179A,SILENT,NM_199280.2:p.Pro260Pro/c.780G>A,ccG/ccA,LOW,,0.593251,0.6677,rs12613325,,,,,,chr2,29226498,29226498,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro260Pro/c.780G>A|1019|FAM179A|protein_coding|CODING|NM_199280.2|6|1),"CD4:H4K91ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6534,0.7089,0.7584,0.66,0.38,0.80,,,,,,,,,,,,,,,,
missense_variant,FAM179A,MISSENSE,NM_199280.2:p.Gln265Arg/c.794A>G,cAg/cGg,MODERATE,COSM4133799(1),0.744808,0.8274,rs12623297,0.11(T),"0.994,0.003(D,B)",1.04(L),-1.1590(T),,chr2,29226512,29226512,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln265Arg/c.794A>G|1019|FAM179A|protein_coding|CODING|NM_199280.2|6|1),"CD4:H4K91ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7127,0.8098,0.839,0.80,0.66,0.86,,,0.973(P),"2.43,2.38(T,T)",0.0000(T),0.188,2.673574,5.16,5.16,0.402000,1.950000,4.415000,0.041000,0.996000,0.999000,11.3871
synonymous_variant,C2orf71,SILENT,NM_001029883.2:p.Pro833Pro/c.2499G>A,ccG/ccA,LOW,COSM4001642(1),0.1248,0.1617,rs34253433,,,,,,chr2,29294629,29294629,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro833Pro/c.2499G>A|1288|C2orf71|protein_coding|CODING|NM_001029883.2|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1012,0.1585,0.2137,0.18,0.07,0.22,,,,,,,,,,,,,,,,
missense_variant,C2orf71,MISSENSE,NM_001029883.2:p.Leu792Val/c.2374C>G,Ctc/Gtc,MODERATE,,0.125,0.1637,rs17744093,0.23(T),0.163(B),1.845(L),-1.0201(T),,chr2,29294754,29294754,G,C,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu792Val/c.2374C>G|1288|C2orf71|protein_coding|CODING|NM_001029883.2|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0992,0.1571,0.2137,0.18,0.07,0.22,,0.415662(N),1.000(P),1.82(T),0.0000(T),0.056,1.703088,5.39,0.524,-0.806000,-0.205000,1.734000,0.001000,0.000000,0.033000,2.3117
synonymous_variant,C2orf71,SILENT,NM_001029883.2:p.Asn704Asn/c.2112T>C,aaT/aaC,LOW,,0.333866,0.4444,rs10200693,,,,,,chr2,29295016,29295016,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn704Asn/c.2112T>C|1288|C2orf71|protein_coding|CODING|NM_001029883.2|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.229,0.2579,0.2604,0.30,0.37,0.27,,,,,,,,,,,,,,,,
synonymous_variant,C2orf71,SILENT,NM_001029883.2:p.Ser484Ser/c.1452C>T,agC/agT,LOW,,0.331669,0.4415,rs13385188,,,,,,chr2,29295676,29295676,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser484Ser/c.1452C>T|1288|C2orf71|protein_coding|CODING|NM_001029883.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.229,0.2579,0.2604,0.30,0.37,0.27,,,,,,,,,,,,,,,,
synonymous_variant,C2orf71,SILENT,NM_001029883.2:p.Arg86Arg/c.258G>A,agG/agA,LOW,,0.111222,0.123,rs62132765,,,,,,chr2,29296870,29296870,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg86Arg/c.258G>A|1288|C2orf71|protein_coding|CODING|NM_001029883.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,GM12878:SP1,K562:H3K27me3,IMR90:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:PU1",,,,0.0971,0.1527,0.2137,0.17,0.05,0.22,,,,,,,,,,,,,,,,
synonymous_variant,C2orf71,SILENT,NM_001029883.2:p.Gln20Gln/c.60G>A,caG/caA,LOW,COSM4001643(1),0.116613,0.123,rs35929540,,,,,,chr2,29297068,29297068,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln20Gln/c.60G>A|1288|C2orf71|protein_coding|CODING|NM_001029883.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,GM12878:SP1,K562:H3K27me3,IMR90:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:PU1",,,,0.0971,0.1585,0.2137,0.17,0.07,0.22,,,,,,,,,,,,,,,,
synonymous_variant,CLIP4,SILENT,NM_001287527.1:p.Thr172Thr/c.516A>G,acA/acG,LOW,,0.415136,0.3204,rs3100232,,,,,,chr2,29356669,29356669,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr172Thr/c.516A>G|705|CLIP4|protein_coding|CODING|NM_001287527.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr172Thr/c.516A>G|599|CLIP4|protein_coding|CODING|NM_001287528.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr172Thr/c.516A>G|705|CLIP4|protein_coding|CODING|NM_024692.5|5|1),non_coding_exon_variant(MODIFIER|||n.709A>G||CLIP4||CODING|NR_109844.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2464,0.317,0.4006,0.47,0.61,0.40,,,,,,,,,,,,,,,,
synonymous_variant,CLIP4,SILENT,NM_001287527.1:p.Ala240Ala/c.720C>T,gcC/gcT,LOW,COSM3758200(1),0.0301518,0,rs35024908,,,,,,chr2,29366646,29366646,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala240Ala/c.720C>T|705|CLIP4|protein_coding|CODING|NM_001287527.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala240Ala/c.720C>T|599|CLIP4|protein_coding|CODING|NM_001287528.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala240Ala/c.720C>T|705|CLIP4|protein_coding|CODING|NM_024692.5|7|1),non_coding_exon_variant(MODIFIER|||n.913C>T||CLIP4||CODING|NR_109844.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0303,0.0765,0.06,0.04,0.07,,,,,,,,,,,,,,,,
missense_variant,CLIP4,MISSENSE,NM_001287527.1:p.Arg486Leu/c.1457G>T,cGc/cTc,MODERATE,,0.0509185,0.001,rs3100246,0.23(T),0.04(B),0.895(L),-1.0974(T),,chr2,29383256,29383256,G,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg486Leu/c.1457G>T|705|CLIP4|protein_coding|CODING|NM_001287527.1|12|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg486Leu/c.1457G>T|599|CLIP4|protein_coding|CODING|NM_001287528.1|12|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg486Leu/c.1457G>T|705|CLIP4|protein_coding|CODING|NM_024692.5|12|1),non_coding_exon_variant(MODIFIER|||n.1705G>T||CLIP4||CODING|NR_109844.1|11|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0266,0.1023,0.1441,0.11,0.03,0.15,,0.941749(N),1.000(N),"-0.82,-0.82,-0.82,-0.82(T,T,T,T)",0.0016(T),0.203,2.440097,6.16,-8.63,-0.355000,-1.766000,-0.044000,0.002000,0.000000,0.001000,15.3941
missense_variant,ALK,MISSENSE,NM_004304.4:p.Asp1529Glu/c.4587C>G,gaC/gaG,MODERATE,COSM3758201(1),0.572883,0.7292,rs1881421,1(T),0.0(B),-1.78(N),-0.9928(T),,chr2,29416366,29416366,G,C,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1529Glu/c.4587C>G|1620|ALK|protein_coding|CODING|NM_004304.4|29|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5133,0.5706,0.3837,0.43,0.61,0.34,,0.119246(N),1.000(P),"1.7,1.7(T,T)",0.0000(T),0.008,-0.382484,5.11,-3.42,-0.357000,-1.464000,-0.022000,0.047000,0.000000,0.000000,11.8015
missense_variant,ALK,MISSENSE,NM_004304.4:p.Ile1461Val/c.4381A>G,Atc/Gtc,MODERATE,,0.992212,1,rs1670283,,0.0(B),0(N),-0.9870(T),,chr2,29416572,29416572,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1461Val/c.4381A>G|1620|ALK|protein_coding|CODING|NM_004304.4|29|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.999,1,1,0.99,0.97,1.00,,0.683478(N),1.000(P),"-0.89,3.01(T,T)",0.0000(T),0.012,-0.742210,5.64,-0.134,-0.224000,-0.248000,-0.728000,0.025000,0.004000,0.000000,8.3864
synonymous_variant,ALK,SILENT,NM_004304.4:p.Thr1012Thr/c.3036G>A,acG/acA,LOW,COSM148824(2),0.169928,0.119,rs2293563,,,,,,chr2,29449819,29449819,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1012Thr/c.3036G>A|1620|ALK|protein_coding|CODING|NM_004304.4|18|1),"NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.137,0.147,0.1928,0.19,0.22,0.17,,,,,,,,,,,,,,,,
synonymous_variant,ALK,SILENT,NM_004304.4:p.Gly845Gly/c.2535T>C,ggT/ggC,LOW,COSM148825(1),0.5,0.1746,rs2256740,,,,,,chr2,29455267,29455267,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly845Gly/c.2535T>C|1620|ALK|protein_coding|CODING|NM_004304.4|15|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5245,0.5476,0.7247,0.66,0.55,0.72,,,,,,,,,,,,,,,,
synonymous_variant,ALK,SILENT,NM_004304.4:p.Gln500Gln/c.1500A>G,caA/caG,LOW,COSM4133810(1),0.776558,0.9206,rs2293564,,,,,,chr2,29543663,29543663,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln500Gln/c.1500A>G|1620|ALK|protein_coding|CODING|NM_004304.4|7|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.864,0.8847,0.9235,0.79,0.53,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ALK,SILENT,NM_004304.4:p.Pro234Pro/c.702T>A,ccT/ccA,LOW,,0.589257,0.7827,rs2246745,,,,,,chr2,29940529,29940529,A,T,hom,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro234Pro/c.702T>A|1620|ALK|protein_coding|CODING|NM_004304.4|2|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7025,0.6902,0.7913,0.63,0.27,0.81,,,,,,,,,,,,,,,,
synonymous_variant,ALK,SILENT,NM_004304.4:p.Leu9Leu/c.27C>G,ctC/ctG,LOW,COSM3749653(4),0.89377,0.998,rs4358080,,,,,,chr2,30143499,30143499,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu9Leu/c.27C>G|1620|ALK|protein_coding|CODING|NM_004304.4|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,K562:Nrsf",,,,0.8916,0.938,0.8837,0.91,0.88,0.92,,,,,,,,,,,,,,,,
synonymous_variant,YPEL5,SILENT,NM_001127399.1:p.Ser54Ser/c.162T>C,agT/agC,LOW,,0.46885,0.7401,rs1137288,,,,,,chr2,30381505,30381505,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser54Ser/c.162T>C|121|YPEL5|protein_coding|CODING|NM_001127399.1|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser54Ser/c.162T>C|121|YPEL5|protein_coding|CODING|NM_001127400.1|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser54Ser/c.162T>C|121|YPEL5|protein_coding|CODING|NM_001127401.1|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser54Ser/c.162T>C|121|YPEL5|protein_coding|CODING|NM_016061.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,,,0.5061,0.4135,0.4503,0.42,0.33,0.47,,,,,,,,,,,,,,,,
missense_variant,CAPN13,MISSENSE,NM_144575.2:p.Ile596Thr/c.1787T>C,aTa/aCa,MODERATE,,0.08127,0.1726,rs2276568,0.01(D),0.856(P),2.295(M),-1.0722(T),,chr2,30957326,30957326,A,G,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile596Thr/c.1787T>C|669|CAPN13|protein_coding|CODING|NM_144575.2|19|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1288,0.0418,0.0676,0.05,0.02,0.07,,0.002940(N),0.037(P),"1.52,1.52(T,T)",0.0005(T),0.434,1.946949,4.84,4.84,0.374000,1.952000,4.160000,0.062000,0.849000,0.974000,11.1009
missense_variant,CAPN13,MISSENSE,NM_144575.2:p.Gln349Lys/c.1045C>A,Caa/Aaa,MODERATE,,0.0565096,0,rs62142192,0.05(D),0.081(B),1.7(L),-0.9794(T),,chr2,30975961,30975961,G,T,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln349Lys/c.1045C>A|669|CAPN13|protein_coding|CODING|NM_144575.2|10|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0348,0.0836,0.1779,0.14,0.03,0.19,,0.000002(N),1.000(P),"-2.2,-2.2(D,D)",0.0019(T),0.185,-0.935101,5.27,3.44,-0.258000,0.573000,1.400000,0.016000,0.237000,0.406000,7.1577
synonymous_variant,CAPN13,SILENT,NM_144575.2:p.Ser316Ser/c.948G>A,tcG/tcA,LOW,,0.383786,0.5109,rs2926304,,,,,,chr2,30976058,30976058,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser316Ser/c.948G>A|669|CAPN13|protein_coding|CODING|NM_144575.2|10|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4693,0.4928,0.4085,0.33,0.17,0.40,,,,,,,,,,,,,,,,
missense_variant,CAPN13,MISSENSE,NM_144575.2:p.Ala280Thr/c.838G>A,Gcc/Acc,MODERATE,,0.790136,0.7619,rs508405,0.39(T),0.0(B),-0.8(N),-0.9616(T),,chr2,30980940,30980940,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala280Thr/c.838G>A|669|CAPN13|protein_coding|CODING|NM_144575.2|8|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7219,0.7464,0.6889,0.76,0.91,0.68,,0.245066(N),1.000(P),"-2.28,-2.28(D,D)",0.0000(T),0.051,-1.692667,4.86,-5.94,-1.327000,-0.687000,-0.356000,0.007000,0.000000,0.000000,3.2965
missense_variant,GALNT14,MISSENSE,NM_001253826.1:p.Gln474Lys/c.1420C>A,Cag/Aag,MODERATE,,0.198283,0.1984,rs2288101,0.12(T),"0.268,0.723,0.14,0.649(B,P,B,P)",2.57(M),-1.1221(T),,chr2,31135184,31135184,G,T,het,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln474Lys/c.1420C>A|557|GALNT14|protein_coding|CODING|NM_001253826.1|15|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln449Lys/c.1345C>A|532|GALNT14|protein_coding|CODING|NM_001253827.1|16|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln469Lys/c.1405C>A|552|GALNT14|protein_coding|CODING|NM_024572.3|14|1),non_coding_exon_variant(MODIFIER|||n.2178C>A||GALNT14||CODING|NR_045602.1|15|1)","GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2209,0.1844,0.2614,0.22,0.16,0.24,,0.000000(D),0.000(P),"1.65,1.65,1.65,1.65,1.65(T,T,T,T,T)",0.0000(T),0.32,1.867597,5.04,5.04,0.563000,2.349000,6.095000,0.763000,1.000000,1.000000,17.1769
synonymous_variant,CAPN14,SILENT,NM_001145122.1:p.Leu424Leu/c.1272G>C,ctG/ctC,LOW,COSM4133811(1),0.913938,0.9692,rs1562022,,,,,,chr2,31414807,31414807,C,G,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu424Leu/c.1272G>C|684|CAPN14|protein_coding|CODING|NM_001145122.1|11|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9131,0.9409,0.9354,0.91,0.86,0.92,,,,,,,,,,,,,,,,
synonymous_variant,XDH,SILENT,NM_000379.3:p.Phe1010Phe/c.3030T>C,ttT/ttC,LOW,,0.79992,0.8482,rs1884725,,,,,,chr2,31571786,31571786,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1010Phe/c.3030T>C|1333|XDH|protein_coding|CODING|NM_000379.3|27|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8374,0.7565,0.7903,0.77,0.80,0.76,,,,,,,,,,,,,,,,
missense_variant,XDH,MISSENSE,NM_000379.3:p.Ile703Val/c.2107A>G,Ata/Gta,MODERATE,,0.0519169,0.004,rs17011368,0(D),0.092(B),1.675(L),-1.0512(T),,chr2,31590917,31590917,T,C,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile703Val/c.2107A>G|1333|XDH|protein_coding|CODING|NM_000379.3|20|1),"GM06990:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0286,0.0317,0.0477,0.06,0.12,0.03,,0.000000(D),0.000(P),1.09(T),0.0011(T),0.139,3.084344,6.02,4.8,0.533000,2.311000,3.383000,0.989000,0.998000,1.000000,11.1748
missense_variant,XDH,MISSENSE,NM_000379.3:p.Ile646Val/c.1936A>G,Ata/Gta,MODERATE,,0.019369,0.004,rs17323225,0.55(T),0.002(B),0.57(N),-1.0416(T),,chr2,31593265,31593265,T,C,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile646Val/c.1936A>G|1333|XDH|protein_coding|CODING|NM_000379.3|18|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0286,0.0159,0.0467,0.02,0.01,0.03,,0.226175(N),1.000(N),2.34(T),0.0081(T),0.049,-0.328875,6.17,-9.66,-1.231000,-2.073000,-2.756000,0.064000,0.000000,0.000000,10.4692
synonymous_variant,SRD5A2,SILENT,NM_000348.3:p.Ala88Ala/c.264C>G,gcC/gcG,LOW,,0.652157,0.4792,rs523349,,,,,,chr2,31805706,31805706,G,C,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala88Ala/c.264C>G|253|SRD5A2|protein_coding|CODING|NM_000348.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000083650.1,,0.593,0.6643,0.7207,0.72,0.76,0.71,,,,,,,,,,,,,,,,
synonymous_variant,NLRC4,SILENT,NM_001199138.1:p.Ala608Ala/c.1824C>T,gcC/gcT,LOW,,0.592252,0.4633,rs455060,,,,,,chr2,32475109,32475109,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala608Ala/c.1824C>T|1024|NLRC4|protein_coding|CODING|NM_001199138.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala608Ala/c.1824C>T|1024|NLRC4|protein_coding|CODING|NM_001199139.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala608Ala/c.1824C>T|1024|NLRC4|protein_coding|CODING|NM_021209.4|4|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.4816,0.6556,0.6173,0.63,0.68,0.60,,,,,,,,,,,,,,,,
synonymous_variant,NLRC4,SILENT,NM_001199138.1:p.Arg181Arg/c.543A>C,cgA/cgC,LOW,COSM148832(1),0.515575,0.3562,rs408813,,,,,,chr2,32476390,32476390,T,G,het,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg181Arg/c.543A>C|1024|NLRC4|protein_coding|CODING|NM_001199138.1|4|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg181Arg/c.543A>C|1024|NLRC4|protein_coding|CODING|NM_001199139.1|4|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg181Arg/c.543A>C|1024|NLRC4|protein_coding|CODING|NM_021209.4|4|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.408,0.5922,0.6074,0.59,0.58,0.59,,,,,,,,,,,,,,,,
missense_variant,BIRC6,MISSENSE,NM_016252.3:p.Val1332Leu/c.3994G>C,Gtt/Ctt,MODERATE,,1,1,rs60197615,1(T),0.0(B),-1.32(N),-0.9147(T),,chr2,32667182,32667182,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val1332Leu/c.3994G>C|4857|BIRC6|protein_coding|CODING|NM_016252.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,1,1,1,,,,,0.000002(N),0.999(P),0.11(T),0.0000(T),0.216,1.318258,5.64,5.64,-0.143000,1.379000,4.655000,0.988000,1.000000,1.000000,16.8686
missense_variant,BIRC6,MISSENSE,NM_016252.3:p.Thr2674Ser/c.8020A>T,Act/Tct,MODERATE,COSM148833(2),0.560903,0.3433,rs2366894,1(T),0.0(B),0(N),-0.9160(T),,chr2,32713706,32713706,A,T,hom,missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr2674Ser/c.8020A>T|4857|BIRC6|protein_coding|CODING|NM_016252.3|42|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4479,0.6398,0.6412,0.66,0.70,0.64,,0.001086(N),1.000(P),-0.71(T),0.0000(T),0.033,-0.180114,5.67,4.48,-0.257000,0.402000,1.242000,0.992000,1.000000,0.994000,7.3633
synonymous_variant,BIRC6,SILENT,NM_016252.3:p.Cys3550Cys/c.10650T>C,tgT/tgC,LOW,,0.0353435,0,rs34757266,,,,,,chr2,32740138,32740138,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys3550Cys/c.10650T>C|4857|BIRC6|protein_coding|CODING|NM_016252.3|55|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0663,0.1093,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,BIRC6,SILENT,NM_016252.3:p.Thr4584Thr/c.13752G>A,acG/acA,LOW,COSM148834(2),0.332867,0.2956,rs2710625,,,,,,chr2,32822957,32822957,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr4584Thr/c.13752G>A|4857|BIRC6|protein_coding|CODING|NM_016252.3|69|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2587,0.3674,0.4344,0.39,0.32,0.42,,,,,,,,,,,,,,,,
synonymous_variant,TTC27,SILENT,NM_017735.4:p.Leu38Leu/c.114A>G,ctA/ctG,LOW,,0.987819,1,rs2710623,,,,,,chr2,32855615,32855615,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu38Leu/c.114A>G|843|TTC27|protein_coding|CODING|NM_017735.4|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||793|TTC27|protein_coding|CODING|NM_001193509.1|2|1),5_prime_UTR_variant(MODIFIER||37|c.-37A>G|793|TTC27|protein_coding|CODING|NM_001193509.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TTC27,SILENT,NM_017735.4:p.Asn540Asn/c.1620C>T,aaC/aaT,LOW,COSM148836(2),0.292931,0.3671,rs2273665,,,,,,chr2,32983526,32983526,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn490Asn/c.1470C>T|793|TTC27|protein_coding|CODING|NM_001193509.1|13|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn540Asn/c.1620C>T|843|TTC27|protein_coding|CODING|NM_017735.4|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.226,0.3718,0.4125,0.34,0.21,0.41,,,,,,,,,,,,,,,,
synonymous_variant,LTBP1,SILENT,NM_206943.2:p.Thr859Thr/c.2577G>A,acG/acA,LOW,COSM4001657(1),0.167532,0.2371,rs12468099,,,,,,chr2,33488419,33488419,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr533Thr/c.1599G>A|1395|LTBP1|protein_coding|CODING|NM_000627.3|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr533Thr/c.1599G>A|1353|LTBP1|protein_coding|CODING|NM_001166264.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr480Thr/c.1440G>A|1342|LTBP1|protein_coding|CODING|NM_001166265.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr480Thr/c.1440G>A|1300|LTBP1|protein_coding|CODING|NM_001166266.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr859Thr/c.2577G>A|1721|LTBP1|protein_coding|CODING|NM_206943.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.1656,0.1844,0.2863,0.21,0.06,0.29,,,,,,,,,,,,,,,,
synonymous_variant,LTBP1,SILENT,NM_206943.2:p.Pro1214Pro/c.3642G>A,ccG/ccA,LOW,COSM4001659(1),0.460264,0.3095,rs1058840,,,,-0.9754(T),,chr2,33540248,33540248,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro888Pro/c.2664G>A|1395|LTBP1|protein_coding|CODING|NM_000627.3|20|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro888Pro/c.2664G>A|1353|LTBP1|protein_coding|CODING|NM_001166264.1|20|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro835Pro/c.2505G>A|1342|LTBP1|protein_coding|CODING|NM_001166265.1|20|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro835Pro/c.2505G>A|1300|LTBP1|protein_coding|CODING|NM_001166266.1|20|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1214Pro/c.3642G>A|1721|LTBP1|protein_coding|CODING|NM_206943.2|24|1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.4969,0.6282,0.6481,0.56,0.37,0.65,,,0.000(P),,0.0000(T),.,0.817316,4.98,1.28,-1.002000,-0.276000,-0.419000,0.844000,0.987000,0.221000,0.9771
missense_variant,LTBP1,MISSENSE,NM_206943.2:p.Val1378Ala/c.4133T>C,gTg/gCg,MODERATE,,1,1,rs4422143,1(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B)",-1.7(N),-0.9344(T),,chr2,33585796,33585796,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1052Ala/c.3155T>C|1395|LTBP1|protein_coding|CODING|NM_000627.3|23|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1010Ala/c.3029T>C|1353|LTBP1|protein_coding|CODING|NM_001166264.1|22|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val999Ala/c.2996T>C|1342|LTBP1|protein_coding|CODING|NM_001166265.1|23|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val957Ala/c.2870T>C|1300|LTBP1|protein_coding|CODING|NM_001166266.1|22|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1378Ala/c.4133T>C|1721|LTBP1|protein_coding|CODING|NM_206943.2|27|1)","NH-A:H3K36me3,IMR90:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,0.855(P),"-2.9,-2.9,-2.9,-2.9,-2.9,-2.9,-2.9,-2.9,-2.9(D,D,D,D,D,D,D,D,D)",0.0000(T),0.211,-0.516131,4.89,4.89,-0.213000,1.180000,3.902000,0.012000,0.157000,0.998000,13.7162
synonymous_variant,RASGRP3,SILENT,NM_001139488.1:p.Ser363Ser/c.1089C>T,tcC/tcT,LOW,,0.0882588,0.006,rs35933402,,,,,,chr2,33759395,33759395,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser363Ser/c.1089C>T|690|RASGRP3|protein_coding|CODING|NM_001139488.1|11|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser363Ser/c.1089C>T|689|RASGRP3|protein_coding|CODING|NM_015376.2|10|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser363Ser/c.1089C>T|690|RASGRP3|protein_coding|CODING|NM_170672.2|12|1)",GM06990:H3K36me3,,,,0.089,0.1931,0.1501,0.12,0.06,0.15,,,,,,,,,,,,,,,,
synonymous_variant,FEZ2,SILENT,NM_001042548.1:p.Thr134Thr/c.402A>G,acA/acG,LOW,COSM3758218(1),0.428714,0.4147,rs14291,,,,,,chr2,36810586,36810586,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr134Thr/c.402A>G|380|FEZ2|protein_coding|CODING|NM_001042548.1|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr134Thr/c.402A>G|353|FEZ2|protein_coding|CODING|NM_005102.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3742,0.5144,0.4115,0.39,0.44,0.37,,,,,,,,,,,,,,,,
missense_variant,FEZ2,MISSENSE,NM_001042548.1:p.Pro50Leu/c.149C>T,cCg/cTg,MODERATE,COSM3749660(14),0.869609,0.9881,rs1544655,1(T),"0.0,0.0,0.0(B,B,B)",-2.07(N),-0.9922(T),,chr2,36825137,36825137,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro50Leu/c.149C>T|380|FEZ2|protein_coding|CODING|NM_001042548.1|1|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro50Leu/c.149C>T|353|FEZ2|protein_coding|CODING|NM_005102.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:THAP1,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.8538,0.8372,0.7435,,,,,0.000005(N),0.000(P),"2.31,2.31(T,T)",0.0000(T),0.166,1.148856,3.93,3.93,-0.775000,0.590000,0.606000,0.540000,0.997000,1.000000,7.5473
missense_variant,FEZ2,MISSENSE,NM_001042548.1:p.Glu39Gly/c.116A>G,gAg/gGg,MODERATE,COSM3758219(4),0.858626,0.9881,rs2287104,0.48(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0385(T),,chr2,36825170,36825170,T,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu39Gly/c.116A>G|380|FEZ2|protein_coding|CODING|NM_001042548.1|1|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu39Gly/c.116A>G|353|FEZ2|protein_coding|CODING|NM_005102.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:Gabp,K562:THAP1,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.8538,0.8357,0.7435,,,,,0.535217(N),1.000(P),"1.87,1.87(T,T)",0.0000(T),0.114,-2.396057,0.149,0.149,-1.063000,-1.066000,-0.265000,0.039000,0.027000,0.001000,.
synonymous_variant,HEATR5B,SILENT,NM_019024.1:p.Ser1406Ser/c.4218C>T,tcC/tcT,LOW,COSM4133825(1),0.260383,0.5288,rs17020125,,,,,,chr2,37241050,37241050,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1406Ser/c.4218C>T|2071|HEATR5B|protein_coding|CODING|NM_019024.1|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3344,0.2651,0.1948,0.15,0.08,0.18,,,,,,,,,,,,,,,,
synonymous_variant,HEATR5B,SILENT,NM_019024.1:p.Phe86Phe/c.258C>T,ttC/ttT,LOW,,0.929313,1,rs6743906,,,,,,chr2,37306343,37306343,G,A,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe86Phe/c.258C>T|2071|HEATR5B|protein_coding|CODING|NM_019024.1|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9697,0.999,0.92,0.78,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SULT6B1,SILENT,NM_001032377.1:p.Tyr124Tyr/c.372T>C,taT/taC,LOW,,0.42492,0.8006,rs10182091,,,,,,chr2,37406644,37406644,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr124Tyr/c.372T>C|265|SULT6B1|protein_coding|CODING|NM_001032377.1|4|1),HepG2:H3K27me3,,,,0.4744,0.4207,0.2565,0.25,0.25,0.25,,,,,,,,,,,,,,,,
missense_variant,SULT6B1,MISSENSE,NM_001032377.1:p.Leu112Phe/c.336G>C,ttG/ttC,MODERATE,COSM3758222(1),0.42492,0.8016,rs10205833,1(T),0.0(B),-3.05(N),-0.9431(T),,chr2,37406680,37406680,C,G,het,missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu112Phe/c.336G>C|265|SULT6B1|protein_coding|CODING|NM_001032377.1|4|1),HepG2:H3K27me3,,,,0.4744,0.4207,0.2614,0.25,0.25,0.25,,0.000009(N),0.000(P),"-1.55,-1.55,-1.55(D,D,D)",0.0000(T),0.1,-0.910131,4.27,0.367,-0.216000,-0.041000,0.681000,0.930000,0.998000,1.000000,5.2867
synonymous_variant,CEBPZ,SILENT,NM_005760.2:p.Ser931Ser/c.2793C>T,agC/agT,LOW,,0.319489,0.3462,rs1137437,,,,,,chr2,37438993,37438993,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser931Ser/c.2793C>T|1054|CEBPZ|protein_coding|CODING|NM_005760.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2311,0.3674,0.4264,0.36,0.28,0.40,,,,,,,,,,,,,,,,
missense_variant,CEBPZ,MISSENSE,NM_005760.2:p.Ala615Val/c.1844C>T,gCa/gTa,MODERATE,,0.00179712,0,rs34983085,0(D),0.038(B),0.59(N),-1.0746(T),,chr2,37450350,37450350,G,A,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala615Val/c.1844C>T|1054|CEBPZ|protein_coding|CODING|NM_005760.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0.007,0.00,0.00,0.00,,0.001491(N),0.708(D),1.95(T),0.0212(T),0.077,0.896248,5.46,3.27,0.462000,1.435000,2.299000,0.992000,1.000000,1.000000,4.4311
missense_variant,CEBPZ,MISSENSE,NM_005760.2:p.Val102Ile/c.304G>A,Gtt/Att,MODERATE,,0.939896,1,rs2098386,1(T),0.0(B),-0.695(N),-1.0181(T),,chr2,37456032,37456032,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val102Ile/c.304G>A|1054|CEBPZ|protein_coding|CODING|NM_005760.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:SP1",,,,0.8906,0.9496,0.8549,0.88,0.96,0.84,,0.473565(N),1.000(P),"4.32,4.32(T,T)",0.0000(T),0.01,-2.816820,5.65,-1.81,-0.254000,-0.431000,0.135000,0.011000,0.000000,0.000000,3.6334
synonymous_variant,PRKD3,SILENT,NM_005813.3:p.Leu400Leu/c.1200A>C,ctA/ctC,LOW,COSM148841(2),0.223243,0.3373,rs10460527,,,,,,chr2,37505105,37505105,T,G,het,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu400Leu/c.1200A>C|890|PRKD3|protein_coding|CODING|NM_005813.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1595,0.2824,0.1272,0.14,0.21,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PRKD3,SILENT,NM_005813.3:p.Asp374Asp/c.1122T>C,gaT/gaC,LOW,COSM3766577(1),0.16274,0.3373,rs3770761,,,,,,chr2,37506939,37506939,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp374Asp/c.1122T>C|890|PRKD3|protein_coding|CODING|NM_005813.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1217,0.2435,0.0795,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,PRKD3,SILENT,NM_005813.3:p.Leu175Leu/c.525C>G,ctC/ctG,LOW,COSM4001667(1),0.30651,0.4097,rs10177176,,,,,,chr2,37518045,37518045,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu175Leu/c.525C>G|890|PRKD3|protein_coding|CODING|NM_005813.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2393,0.3343,0.4274,0.33,0.19,0.40,,,,,,,,,,,,,,,,
missense_variant,PRKD3,MISSENSE,NM_005813.3:p.Asn42Asp/c.124A>G,Aat/Gat,MODERATE,,0.0341454,0.002,rs11896614,0.03(D),"0.011,0.002(B,B)",1.5(L),-1.0022(T),,chr2,37543544,37543544,T,C,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn42Asp/c.124A>G|890|PRKD3|protein_coding|CODING|NM_005813.3|1|1),"GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0327,0.0259,0.0547,0.05,0.05,0.05,,0.000000(D),1.000(D),"-0.18,-0.18(T,T)",0.0315(T),0.073,3.375423,5.67,5.67,0.482000,2.154000,7.264000,0.989000,0.999000,1.000000,14.4843
missense_variant,RMDN2,MISSENSE,NM_144713.4:p.Gly259Asp/c.776G>A,gGt/gAt,MODERATE,,1,1,rs4670800,1(T),0.0(B),-0.695(N),-0.9862(T),,chr2,38179134,38179134,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly259Asp/c.776G>A|573|RMDN2|protein_coding|CODING|NM_144713.4|2|1),intron_variant(MODIFIER|||c.453-22049G>A|410|RMDN2|protein_coding|CODING|NM_001170791.2|2|1),intron_variant(MODIFIER|||c.453-22049G>A|410|RMDN2|protein_coding|CODING|NM_001170792.2|2|1),intron_variant(MODIFIER|||n.323-1454C>T||RMDN2-AS1||NON_CODING|NR_102712.1|3|1),intron_variant(MODIFIER|||c.17+1396G>A|265|RMDN2|protein_coding|CODING|NM_001170793.2|1|1)",HepG2:H3K36me3,,,,1,1,1,,,,,0.538982(N),1.000(P),"0.95,0.95(T,T)",0.0000(T),0.067,-1.279746,4.04,-3.03,-0.254000,-0.650000,-1.046000,0.001000,0.000000,0.000000,3.8091
synonymous_variant,CYP1B1,SILENT,NM_000104.3:p.Asp449Asp/c.1347T>C,gaT/gaC,LOW,COSM3758225(1),0.620208,0.9087,rs1056837,,,,,,chr2,38298150,38298150,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp449Asp/c.1347T>C|543|CYP1B1|protein_coding|CODING|NM_000104.3|3|1),"HUVEC:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3",,,,0.8313,0.7277,0.6024,0.45,0.25,0.56,,,,,,,,,,,,,,,,
missense_variant,CYP1B1,MISSENSE,NM_000104.3:p.Val432Leu/c.1294G>C,Gtg/Ctg,MODERATE,COSM1408012(2),0.614816,0.9087,rs1056836,0.31(T),0.006(B),,-0.8494(T),,chr2,38298203,38298203,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val432Leu/c.1294G>C|543|CYP1B1|protein_coding|CODING|NM_000104.3|3|1),"HUVEC:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3",,,,0.8313,0.7233,0.6024,0.45,0.23,0.56,,0.543299(N),1.000(P),"-0.3,-0.3(T,T)",0.0000(T),0.101,1.229235,5.95,5.95,0.655000,2.824000,0.163000,0.966000,0.033000,0.000000,13.4692
missense_variant,CYP1B1,MISSENSE,NM_000104.3:p.Ala119Ser/c.355G>T,Gcc/Tcc,MODERATE,COSM1752544(3),0.36242,0.1796,rs1056827,0.05(D),0.0(B),-0.735(N),-0.9327(T),,chr2,38302177,38302177,C,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala119Ser/c.355G>T|543|CYP1B1|protein_coding|CODING|NM_000104.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,RCV000078127.1,,0.4448,0.3112,0.2893,0.34,0.45,0.28,,0.301616(N),1.000(P),"-0.29,-0.29(T,T)",0.0000(T),0.053,0.403763,4.52,-0.879,-2.610000,-0.737000,-0.255000,0.001000,0.026000,0.000000,3.5882
missense_variant,CYP1B1,MISSENSE,NM_000104.3:p.Tyr81Asn/c.241T>A,Tac/Aac,MODERATE,,0.00219649,0,rs9282671,0(D),0.998(D),4.04(H),0.4887(D),,chr2,38302291,38302291,A,T,het,missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr81Asn/c.241T>A|543|CYP1B1|protein_coding|CODING|NM_000104.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HMEC:H3K4me3,H1ESC:CTCF",,RCV000008185.2|RCV000059337.1|RCV000078126.1,,0.002,0.0014,0.007,0.00,0.00,0.00,,0.000013(D),1.000(D),"-0.93,-0.93(T,T)",0.6158(D),0.788,3.713003,4.42,4.42,0.482000,1.860000,6.951000,0.333000,1.000000,1.000000,11.6835
missense_variant,CYP1B1,MISSENSE,NM_000104.3:p.Arg48Gly/c.142C>G,Cgg/Ggg,MODERATE,,0.3748,0.1815,rs10012,0.28(T),0.0(B),0(N),-0.9871(T),,chr2,38302390,38302390,G,C,het,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg48Gly/c.142C>G|543|CYP1B1|protein_coding|CODING|NM_000104.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HMEC:H3K4me3,H1ESC:CTCF",,RCV000078125.1,,0.4438,0.3012,0.2903,0.35,0.51,0.27,,0.019564(N),1.000(P),"-0.64,-0.64(T,T)",0.0000(T),0.048,-0.905640,4.42,-4.77,-0.934000,-0.982000,-1.409000,0.001000,0.000000,0.000000,3.754
missense_variant,MORN2,MISSENSE,NM_001145450.1:p.Glu48Lys/c.142G>A,Gaa/Aaa,MODERATE,COSM3758230(1),0.0696885,0.001,rs3099950,0.08(T),0.986(D),,-0.7968(T),,chr2,39109558,39109558,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu48Lys/c.142G>A|79|MORN2|protein_coding|CODING|NM_001145450.1|5|1),"HSMM:H3K36me3,IMR90:H3K36me3",Amyotrophic_lateral_sclerosis,,,0.1472,0.0865,0.1352,0.09,0.03,0.12,,0.000007(D),0.001(P),"0.88,0.88,0.88,-1.29,0.87(T,T,T,T,T)",0.0239(T),0.587,3.813180,5.38,5.38,0.650000,2.504000,6.017000,0.879000,0.982000,1.000000,17.9286
missense_variant,ARHGEF33,MISSENSE,NM_001145451.2:p.Ser582Pro/c.1744T>C,Tcc/Ccc,MODERATE,COSM3749661(12),0.916933,0.8671,rs6755527,1(T),0.0(B),0(N),-0.9556(T),,chr2,39187190,39187190,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser582Pro/c.1744T>C|870|ARHGEF33|protein_coding|CODING|NM_001145451.2|14|1),non_coding_exon_variant(MODIFIER|||n.296A>G||LOC375196||NON_CODING|NR_028386.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8456,0.9481,0.9354,0.94,0.97,0.93,,,1.000(P),"0.86,0.86,0.87(T,T,T)",0.0000(T),0.084,-0.127262,4.96,1.9,-0.215000,0.466000,0.119000,0.939000,0.985000,0.973000,3.414
synonymous_variant,ARHGEF33,SILENT,NM_001145451.2:p.Lys691Lys/c.2073A>G,aaA/aaG,LOW,COSM3758233(1),0.90016,0.8403,rs958412,,,,,,chr2,39187519,39187519,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys691Lys/c.2073A>G|870|ARHGEF33|protein_coding|CODING|NM_001145451.2|14|1),upstream_gene_variant(MODIFIER||34|||LOC375196||NON_CODING|NR_028386.1||1)","NHEK:CTCF,H1ESC:H3K36me3,HSMM:H2AZ,HUVEC:Max,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,CD4:CTCF,GM06990:DNase1,NHEK:DNase1,IMR90:H3K4me3,H1ESC:CTCF",,,,0.8211,0.9481,0.9354,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP4K3,SILENT,NM_003618.3:p.Thr570Thr/c.1710A>T,acA/acT,LOW,,0.627196,0.7966,rs3755176,,,,,,chr2,39507417,39507417,T,A,hom,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr549Thr/c.1647A>T|873|MAP4K3|protein_coding|CODING|NM_001270425.1|22|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr570Thr/c.1710A>T|894|MAP4K3|protein_coding|CODING|NM_003618.3|23|1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7168,0.7363,0.8549,0.67,0.32,0.84,,,,,,,,,,,,,,,,
synonymous_variant,MAP4K3,SILENT,NM_003618.3:p.Ile63Ile/c.189T>C,atT/atC,LOW,,0.692093,0.8472,rs8545,,,,,,chr2,39583446,39583446,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile63Ile/c.189T>C|873|MAP4K3|protein_coding|CODING|NM_001270425.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile63Ile/c.189T>C|894|MAP4K3|protein_coding|CODING|NM_003618.3|3|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7904,0.7378,0.9026,0.73,0.42,0.90,,,,,,,,,,,,,,,,
splice_acceptor_variant,C2orf91,protein_coding,NM_001242815.1:c.386G>A,,HIGH,,0.252196,0.2381,rs10192292,,,,,C2orf91:1.00(1);,chr2,42165754,42165754,C,T,hom,"splice_acceptor_variant(HIGH|||c.386G>A|131|C2orf91|protein_coding|CODING|NM_001242815.1|4|1),intron_variant(MODIFIER|||c.386-1G>A|131|C2orf91|protein_coding|CODING|NM_001242815.1|3|1)","H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H4K5ac,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.1524,0.3703,0.2773,,,,,,1.000(P),,,.,2.330050,3.16,-0.673,0.561000,-0.124000,-0.302000,0.873000,0.005000,0.000000,3.3978
missense_variant,EML4,MISSENSE,NM_019063.3:p.Lys283Glu/c.847A>G,Aaa/Gaa,MODERATE,,0.996206,1,rs6736913,1(T),"0.0,0.001(B,B)",-2.855(N),-0.9262(T),,chr2,42510018,42510018,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys225Glu/c.673A>G|923|EML4|protein_coding|CODING|NM_001145076.1|7|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys283Glu/c.847A>G|981|EML4|protein_coding|CODING|NM_019063.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9928,0.9881,0.99,1.00,0.98,,0.000002(N),0.000(P),"0.55,0.55,0.55(T,T,T)",0.0000(T),0.338,1.526615,5.89,5.89,-0.124000,1.524000,7.975000,0.869000,1.000000,1.000000,15.3657
missense_variant,EML4,MISSENSE,NM_019063.3:p.Ile382Val/c.1144A>G,Att/Gtt,MODERATE,COSM3758234(1),0.853634,0.8036,rs10202624,1(T),"0.0,0.0,0.0(B,B,B)",-1.59(N),-0.9378(T),,chr2,42515388,42515388,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile324Val/c.970A>G|923|EML4|protein_coding|CODING|NM_001145076.1|10|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile382Val/c.1144A>G|981|EML4|protein_coding|CODING|NM_019063.3|11|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.8548,0.6369,0.8986,0.92,0.94,0.90,,0.000000(N),0.000(P),"0.76,0.76,0.76(T,T,T)",0.0000(T),0.16,1.181731,5.67,5.67,-0.186000,1.409000,8.008000,0.992000,1.000000,1.000000,14.8789
missense_variant,EML4,MISSENSE,NM_019063.3:p.Lys398Arg/c.1193A>G,aAg/aGg,MODERATE,COSM3758235(1),0.272564,0.5784,rs28651764,0.43(T),"0.005,0.009,0.006(B,B,B)",0.305(N),-0.9030(T),,chr2,42515437,42515437,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys340Arg/c.1019A>G|923|EML4|protein_coding|CODING|NM_001145076.1|10|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys398Arg/c.1193A>G|981|EML4|protein_coding|CODING|NM_019063.3|11|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1329,0.1657,0.3131,0.26,0.17,0.31,,0.000003(N),0.000(P),"0.43,0.43,0.43(T,T,T)",0.0000(T),0.073,2.249720,5.43,1.76,0.482000,0.352000,3.107000,0.992000,0.998000,1.000000,9.4373
synonymous_variant,OXER1,SILENT,NM_148962.4:p.Arg328Arg/c.984A>C,cgA/cgC,LOW,COSM442907(2),0.780152,0.8165,rs1992286,,,,,,chr2,42990336,42990336,T,G,hom,synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg328Arg/c.984A>C|423|OXER1|protein_coding|CODING|NM_148962.4|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3",,,,0.7689,0.7536,0.5408,0.66,0.88,0.55,,,,,,,,,,,,,,,,
missense_variant,HAAO,MISSENSE,NM_012205.2:p.Gly235Arg/c.703G>C,Ggc/Cgc,MODERATE,,0.00319489,0,rs34053133,0(D),0.62(P),2.365(M),0.6642(D),,chr2,42994814,42994814,C,G,het,missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly235Arg/c.703G>C|286|HAAO|protein_coding|CODING|NM_012205.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0101,0.008,0.00,0.00,0.01,,0.000000(D),1.000(D),-3.35(D),0.7667(D),0.935,3.123602,4.99,4.99,0.550000,2.331000,1.780000,0.632000,1.000000,1.000000,13.7971
missense_variant,HAAO,MISSENSE,NM_012205.2:p.Ile37Val/c.109A>G,Atc/Gtc,MODERATE,COSM4133842(1),0.859625,0.8026,rs3816183,1(T),0.0(B),-1.75(N),-0.9696(T),,chr2,43015719,43015719,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile37Val/c.109A>G|286|HAAO|protein_coding|CODING|NM_012205.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.9509,0.8934,0.7634,0.79,0.85,0.76,,0.000065(N),1.000(P),"1.74,1.74(T,T)",0.0000(T),0.235,-1.179320,5.44,3.66,-0.726000,0.295000,2.597000,0.351000,0.679000,1.000000,9.3202
synonymous_variant,ZFP36L2,SILENT,NM_006887.4:p.Leu254Leu/c.760T>C,Ttg/Ctg,LOW,COSM442911(2),0.500799,0.2421,rs7933,,,,,,chr2,43452183,43452183,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu254Leu/c.760T>C|494|ZFP36L2|protein_coding|CODING|NM_006887.4|2|1),"NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:Max,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HepG2:PolII,K562:SETDB1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H3K36me3,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.5511,0.3804,0.3718,0.48,0.69,0.37,,,,,,,,,,,,,,,,
missense_variant,THADA,MISSENSE,NM_001083953.1:p.Val699Ile/c.2095G>A,Gta/Ata,MODERATE,,0.21885,0.253,rs17031056,0.7(T),"0.407,0.178,0.047,0.035,0.197(B,B,B,B,B)",1.79(L),-1.0379(T),,chr2,43797619,43797619,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val699Ile/c.2095G>A|1953|THADA|protein_coding|CODING|NM_001083953.1|14|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val699Ile/c.2095G>A|937|THADA|protein_coding|CODING|NM_001271643.1|14|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val699Ile/c.2095G>A|894|THADA|protein_coding|CODING|NM_001271644.1|14|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val699Ile/c.2095G>A|1953|THADA|protein_coding|CODING|NM_022065.4|14|1),non_coding_exon_variant(MODIFIER|||n.2227G>A||THADA||CODING|NR_073394.1|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.319,0.147,0.2286,0.19,0.16,0.20,,0.001824(N),0.610(P),"1.51,1.51,2.69,1.51,-0.07,-0.07,1.45(T,T,T,T,T,T,T)",0.0000(T),0.11,3.097924,5.41,4.53,0.591000,1.287000,2.527000,0.970000,1.000000,0.998000,14.1442
synonymous_variant,THADA,SILENT,NM_001083953.1:p.Leu498Leu/c.1492T>C,Ttg/Ctg,LOW,COSM4001673(1),0.344649,0.2649,rs11899823,,,,,,chr2,43801712,43801712,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu498Leu/c.1492T>C|1953|THADA|protein_coding|CODING|NM_001083953.1|11|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu498Leu/c.1492T>C|937|THADA|protein_coding|CODING|NM_001271643.1|11|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu498Leu/c.1492T>C|894|THADA|protein_coding|CODING|NM_001271644.1|11|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu498Leu/c.1492T>C|1953|THADA|protein_coding|CODING|NM_022065.4|11|1),non_coding_exon_variant(MODIFIER|||n.1624T>C||THADA||CODING|NR_073394.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4397,0.2305,0.34,0.35,0.37,0.34,,,,,,,,,,,,,,,,
synonymous_variant,THADA,SILENT,NM_001083953.1:p.Gly323Gly/c.969A>G,ggA/ggG,LOW,COSM4001674(1),0.377396,0.2659,rs13021894,,,,,,chr2,43804229,43804229,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly323Gly/c.969A>G|1953|THADA|protein_coding|CODING|NM_001083953.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly323Gly/c.969A>G|937|THADA|protein_coding|CODING|NM_001271643.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly323Gly/c.969A>G|894|THADA|protein_coding|CODING|NM_001271644.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly323Gly/c.969A>G|1953|THADA|protein_coding|CODING|NM_022065.4|10|1),non_coding_exon_variant(MODIFIER|||n.1101A>G||THADA||CODING|NR_073394.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4397,0.245,0.341,0.38,0.46,0.34,,,,,,,,,,,,,,,,
synonymous_variant,LOC728819,SILENT,NM_001101330.1:p.Gly132Gly/c.396T>C,ggT/ggC,LOW,COSN166080,0.542532,0.1905,rs3828297,,,,,,chr2,43903066,43903066,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly132Gly/c.396T>C|315|LOC728819|protein_coding|CODING|NM_001101330.1|1|1),intron_variant(MODIFIER|||c.124-2936A>G|1493|PLEKHH2|protein_coding|CODING|NM_172069.3|2|1)","K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K27me3,NHEK:H3K4me2,K562:H3K4me2",,,,0.6319,0.5432,0.7217,0.70,0.65,0.72,,,,,,,,,,,,,,,,
synonymous_variant,LOC728819,SILENT,NM_001101330.1:p.Gln36Gln/c.108A>G,caA/caG,LOW,COSN166081,0.502596,0.1558,rs4952675,,,,,,chr2,43903354,43903354,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln36Gln/c.108A>G|315|LOC728819|protein_coding|CODING|NM_001101330.1|1|1),intron_variant(MODIFIER|||c.124-2648T>C|1493|PLEKHH2|protein_coding|CODING|NM_172069.3|2|1)","HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,IMR90:H3K4me2,HMEC:H3K4me2,HepG2:HEY1,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,HepG2:Yy1,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5624,0.5115,0.6859,0.67,0.62,0.70,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHH2,SILENT,NM_172069.3:p.Pro282Pro/c.846T>A,ccT/ccA,LOW,COSM3758240(1),0.527157,0.1647,rs7606783,,,,,,chr2,43926943,43926943,T,A,het,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro282Pro/c.846T>A|1493|PLEKHH2|protein_coding|CODING|NM_172069.3|8|1),IMR90:H3K36me3,,,,0.5583,0.4741,0.5467,0.61,0.75,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHH2,SILENT,NM_172069.3:p.Asn569Asn/c.1707T>C,aaT/aaC,LOW,COSM442919(4),0.447883,0.1319,rs4953002,,,,,,chr2,43931176,43931176,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn569Asn/c.1707T>C|1493|PLEKHH2|protein_coding|CODING|NM_172069.3|9|1),,,,,0.4785,0.4337,0.5408,0.55,0.58,0.53,,,,,,,,,,,,,,,,
missense_variant,ABCG8,MISSENSE,NM_022437.2:p.Tyr54Cys/c.161A>G,tAc/tGc,MODERATE,COSM3758245(1),0.434704,0.8512,rs4148211,0.06(T),"0.191,0.093(B,B)",1.1(L),-0.9418(T),,chr2,44071743,44071743,A,G,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr54Cys/c.161A>G|673|ABCG8|protein_coding|CODING|NM_022437.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.544,0.3501,0.3708,0.32,0.20,0.39,,0.000154(N),0.000(P),-2.38(D),0.0000(T),0.265,2.737366,5.27,4.12,0.523000,0.856000,5.345000,0.925000,1.000000,1.000000,10.9764
missense_variant,ABCG8,MISSENSE,NM_022437.2:p.Thr400Lys/c.1199C>A,aCg/aAg,MODERATE,COSM1408149(1),0.215655,0.1141,rs4148217,0.31(T),"0.016,0.046(B,B)",0.49(N),-1.0299(T),,chr2,44099433,44099433,C,A,het,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr400Lys/c.1199C>A|673|ABCG8|protein_coding|CODING|NM_022437.2|8|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1575,0.3228,0.2008,0.22,0.27,0.19,,0.012101(N),1.000(P),-0.43(T),0.0000(T),0.196,1.200333,4.81,3.93,0.591000,1.015000,1.368000,0.089000,0.011000,0.001000,9.9542
synonymous_variant,ABCG8,SILENT,NM_022437.2:p.Ala565Ala/c.1695C>T,gcC/gcT,LOW,,0.127596,0.0188,rs4148221,,,,,,chr2,44102491,44102491,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala565Ala/c.1695C>T|673|ABCG8|protein_coding|CODING|NM_022437.2|11|1),"HUVEC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1135,0.1556,0.1759,0.17,0.17,0.18,,,,,,,,,,,,,,,,
missense_variant,ABCG8,MISSENSE,NM_022437.2:p.Val632Ala/c.1895T>C,gTc/gCc,MODERATE,,0.922923,1,rs6544718,0.91(T),"0.0,0.0(B,B)",-1.78(N),-1.0077(T),,chr2,44104925,44104925,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val632Ala/c.1895T>C|673|ABCG8|protein_coding|CODING|NM_022437.2|13|1),"NHEK:CTCF,K562:CTCF,HeLa-S3:CTCF,HMEC:CTCF,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9243,0.8559,0.8042,0.84,0.95,0.78,,0.555832(N),1.000(P),2.43(T),0.0000(T),0.021,-0.755503,5.48,0.0541,-0.119000,-0.225000,0.137000,0.101000,0.010000,0.000000,5.3432
synonymous_variant,LRPPRC,SILENT,NM_133259.3:p.Gln356Gln/c.1068A>G,caA/caG,LOW,COSM4001684(1),0.255791,0.5198,rs386596695,,,,,,chr2,44201376,44201376,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln356Gln/c.1068A>G|1394|LRPPRC|protein_coding|CODING|NM_133259.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117555.2,,0.3947,0.2666,0.1521,0.12,0.05,0.15,,,,,,,,,,,,,,,,
synonymous_variant,LRPPRC,SILENT,NM_133259.3:p.Gln82Gln/c.246G>A,caG/caA,LOW,COSM1408165(2),0.503994,0.0367,rs6741066,,,,,,chr2,44209477,44209477,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln82Gln/c.246G>A|1394|LRPPRC|protein_coding|CODING|NM_133259.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117556.2,,0.4673,0.5548,0.7416,0.72,0.70,0.74,,,,,,,,,,,,,,,,
synonymous_variant,SLC3A1,SILENT,NM_000341.3:p.Gly38Gly/c.114A>C,ggA/ggC,LOW,,0.703474,0.377,rs3738985,,,,,,chr2,44502788,44502788,A,C,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly38Gly/c.114A>C|685|SLC3A1|protein_coding|CODING|NM_000341.3|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.8589,0.6715,0.7684,0.78,0.79,0.77,,,1.000(P),,,.,-0.199049,3.87,0.761,-4.186000,-0.220000,0.063000,0.000000,0.006000,0.079000,6.6101
missense_variant,SLC3A1,MISSENSE,NM_000341.3:p.Met618Ile/c.1854G>A,atG/atA,MODERATE,,0.460863,0.3214,rs698761,"0.78,0.78(T,T)",0.001(B),1.095(L),-0.9028(T),,chr2,44547574,44547574,G,A,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met618Ile/c.1854G>A|685|SLC3A1|protein_coding|CODING|NM_000341.3|10|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|665|PREPL|protein_coding|CODING|NM_001042385.2|13|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|661|PREPL|protein_coding|CODING|NM_001042386.2|13|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|727|PREPL|protein_coding|CODING|NM_001171603.1|15|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|727|PREPL|protein_coding|CODING|NM_001171606.1|15|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|638|PREPL|protein_coding|CODING|NM_001171613.1|14|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|638|PREPL|protein_coding|CODING|NM_001171617.1|14|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|727|PREPL|protein_coding|CODING|NM_006036.4|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6748,0.5447,0.661,0.54,0.29,0.68,,0.120443(N),1.000(P),"-5.33,-4.75,-4.41(D,D,D)",0.0000(T),0.046,0.686183,5.99,-1.37,-0.165000,0.140000,-0.163000,0.015000,0.000000,0.000000,2.1005
synonymous_variant,SIX3,SILENT,NM_005413.3:p.Ala314Ala/c.942A>G,gcA/gcG,LOW,,0.9375,0.9901,rs338074,,,,,,chr2,45171842,45171842,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala314Ala/c.942A>G|332|SIX3|protein_coding|CODING|NM_005413.3|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8548,0.9323,0.9165,0.94,0.97,0.92,,,,,,,,,,,,,,,,
missense_variant,SRBD1,MISSENSE,NM_018079.4:p.Lys811Arg/c.2432A>G,aAa/aGa,MODERATE,,0.132588,0.2163,rs3755072,0(D),0.96(D),0.805(L),-1.0713(T),,chr2,45640334,45640334,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys811Arg/c.2432A>G|995|SRBD1|protein_coding|CODING|NM_018079.4|19|1),"K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,H1ESC:H4K5ac,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1769,0.1599,0.1312,0.10,0.04,0.12,,0.000000(D),0.237(P),"1.62,1.34(T,T)",0.0001(T),0.077,3.269816,5.8,4.65,0.460000,1.031000,5.926000,0.965000,0.958000,1.000000,11.7951
synonymous_variant,PRKCE,SILENT,NM_005400.2:p.Ser368Ser/c.1104A>G,tcA/tcG,LOW,,0.00259585,0,rs41281465,,,,,,chr2,46234641,46234641,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser368Ser/c.1104A>G|737|PRKCE|protein_coding|CODING|NM_005400.2|9|1),"IMR90:H2BK120ac,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,K562:H3K27me3,IMR90:H4K91ac,IMR90:H2BK20ac",,,,0,0.0086,0.007,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,PRKCE,SILENT,NM_005400.2:p.His524His/c.1572C>T,caC/caT,LOW,,0.163738,0.3958,rs1143691,,,,,,chr2,46313481,46313481,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His524His/c.1572C>T|737|PRKCE|protein_coding|CODING|NM_005400.2|11|1),"IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,0.2382,0.121,0.0954,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,PIGF,SILENT,NM_002643.3:p.Ala109Ala/c.327A>G,gcA/gcG,LOW,COSM3933653(2),0.180312,0.121,rs1824050,,,,,,chr2,46839477,46839477,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala109Ala/c.327A>G|219|PIGF|protein_coding|CODING|NM_002643.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala109Ala/c.327A>G|206|PIGF|protein_coding|CODING|NM_173074.2|4|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2096,0.3213,0.2873,0.22,0.08,0.29,,,,,,,,,,,,,,,,
synonymous_variant,SOCS5,SILENT,NM_014011.4:p.Thr249Thr/c.747A>G,acA/acG,LOW,COSM3758249(1),0.21845,0.0853,rs6738426,,,,,,chr2,46986416,46986416,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr249Thr/c.747A>G|536|SOCS5|protein_coding|CODING|NM_014011.4|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr249Thr/c.747A>G|536|SOCS5|protein_coding|CODING|NM_144949.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2474,0.389,0.339,0.30,0.15,0.38,,,,,,,,,,,,,,,,
synonymous_variant,TTC7A,SILENT,NM_001288951.1:p.Ser100Ser/c.300C>T,agC/agT,LOW,,0.0507188,0,rs61738825,,,,,,chr2,47177617,47177617,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser100Ser/c.300C>T|882|TTC7A|protein_coding|CODING|NM_001288951.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser66Ser/c.198C>T|824|TTC7A|protein_coding|CODING|NM_001288953.1|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser100Ser/c.300C>T|858|TTC7A|protein_coding|CODING|NM_020458.3|2|1),5_prime_UTR_variant(MODIFIER||44719|c.-605C>T|504|TTC7A|protein_coding|CODING|NM_001288955.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.0576,0.1153,0.08,0.04,0.10,,,,,,,,,,,,,,,,
synonymous_variant,TTC7A,SILENT,NM_001288951.1:p.Gly483Gly/c.1449G>A,ggG/ggA,LOW,,0.000199681,0,rs142810509,,,,,,chr2,47249057,47249057,G,A,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly483Gly/c.1449G>A|882|TTC7A|protein_coding|CODING|NM_001288951.1|12|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly449Gly/c.1347G>A|824|TTC7A|protein_coding|CODING|NM_001288953.1|13|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly129Gly/c.387G>A|504|TTC7A|protein_coding|CODING|NM_001288955.1|11|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly483Gly/c.1449G>A|858|TTC7A|protein_coding|CODING|NM_020458.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,TTC7A,MISSENSE,NM_001288951.1:p.Val538Leu/c.1612G>C,Gtc/Ctc,MODERATE,,0.270168,0.6032,rs2304290,1(T),"0.003,0.001,0.003,0.002,0.001(B,B,B,B,B)",-1.18(N),-0.9227(T),,chr2,47251469,47251469,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val538Leu/c.1612G>C|882|TTC7A|protein_coding|CODING|NM_001288951.1|14|1),missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val504Leu/c.1510G>C|824|TTC7A|protein_coding|CODING|NM_001288953.1|15|1),missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val184Leu/c.550G>C|504|TTC7A|protein_coding|CODING|NM_001288955.1|13|1),missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val538Leu/c.1612G>C|858|TTC7A|protein_coding|CODING|NM_020458.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.196,0.1332,0.17,0.23,0.14,,0.000969(N),0.000(P),"0.99,0.99,0.99,0.99(T,T,T,T)",0.0000(T),0.168,-1.344233,5.43,2.57,0.563000,0.626000,1.360000,0.051000,0.996000,0.998000,1.9777
missense_variant,C2orf61,MISSENSE,NM_001163561.1:p.Leu17Met/c.49C>A,Ctg/Atg,MODERATE,COSM4133859(1),0.126597,0.1458,rs386615675,0.03(D),0.474(P),0.69(N),-1.0418(T),,chr2,47382342,47382342,G,T,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu17Met/c.49C>A|248|C2orf61|protein_coding|CODING|NM_001163561.1|1|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu17Met/c.49C>A|177|C2orf61|protein_coding|CODING|NM_173649.2|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0808,0.1297,0.1819,0.18,0.14,0.20,,,1.000(P),"1.02,1.03(T,T)",0.0001(T),0.084,1.689502,3.32,0.373,0.561000,0.057000,-0.363000,0.024000,0.000000,0.000000,11.525
synonymous_variant,KCNK12,SILENT,NM_022055.1:p.Cys317Cys/c.951C>T,tgC/tgT,LOW,,0.000599042,0,rs115862926,,,,,,chr2,47748388,47748388,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys317Cys/c.951C>T|430|KCNK12|protein_coding|CODING|NM_022055.1|2|1),"NHEK:CTCF,CD4:H2AZ,H1ESC:H3K36me3,HSMM:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,CD4:H2BK20ac,IMR90:H3K4me2,CD4:H4K8ac,HUVEC:CTCF,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HUVEC:Cmyc,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,CD4:CTCF,GM12878:Rad21,IMR90:H3K27me3,CD4:PolII,CD4:HDAC1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,GM12878:Nrsf,IMR90:H3K4me3,GM12878:H2AZ,GM06990:CTCF",,,,0.001,0.0014,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,MSH6,MISSENSE,NM_000179.2:p.Gly39Glu/c.116G>A,gGg/gAg,MODERATE,COSM3749667(4),0.200879,0.2758,rs1042821,0.28(T),"0.001,0.0,0.003(B,B,B)",0.895(L),-1.0974(T),,chr2,48010488,48010488,G,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly39Glu/c.116G>A|1230|MSH6|protein_coding|CODING|NM_001281492.1|1|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly39Glu/c.116G>A|1360|MSH6|protein_coding|CODING|NM_000179.2|1|1),5_prime_UTR_variant(MODIFIER||15541|c.-621G>A|1058|MSH6|protein_coding|CODING|NM_001281493.1|1|1),upstream_gene_variant(MODIFIER||606||1058|MSH6|protein_coding|CODING|NM_001281494.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:H3K27me3,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,RCV000030258.2|RCV000034489.1|RCV000035318.2|RCV000132091.1,,0.1738,0.1398,0.1819,0.18,0.19,0.17,,0.902400(N),0.000(P),"-1.77,-2.11(D,D)",0.0001(T),0.144,0.044213,4.5,2.63,0.313000,0.838000,1.701000,0.088000,0.689000,0.961000,3.3277
synonymous_variant,MSH6,SILENT,NM_000179.2:p.Asp180Asp/c.540T>C,gaT/gaC,LOW,COSM3758252(1),0.135184,0,rs1800935,,,,,,chr2,48023115,48023115,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp180Asp/c.540T>C|1360|MSH6|protein_coding|CODING|NM_000179.2|3|1),5_prime_UTR_variant(MODIFIER||2914|c.-363T>C|1058|MSH6|protein_coding|CODING|NM_001281494.1|3|1),intron_variant(MODIFIER|||c.238-2635T>C|1230|MSH6|protein_coding|CODING|NM_001281492.1|1|1),intron_variant(MODIFIER|||c.-279-2635T>C|1058|MSH6|protein_coding|CODING|NM_001281493.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000030275.2|RCV000035326.2|RCV000131276.1,,0.0695,0.1772,0.2873,0.25,0.18,0.29,,,,,,,,,,,,,,,,
synonymous_variant,MSH6,SILENT,NM_000179.2:p.Tyr214Tyr/c.642C>T,taC/taT,LOW,,0.0285543,0,rs1800937,,,,,,chr2,48025764,48025764,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr214Tyr/c.642C>T|1360|MSH6|protein_coding|CODING|NM_000179.2|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr84Tyr/c.252C>T|1230|MSH6|protein_coding|CODING|NM_001281492.1|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||1058|MSH6|protein_coding|CODING|NM_001281493.1|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||1058|MSH6|protein_coding|CODING|NM_001281494.1|4|1),5_prime_UTR_variant(MODIFIER||265|c.-265C>T|1058|MSH6|protein_coding|CODING|NM_001281493.1|3|1),5_prime_UTR_variant(MODIFIER||265|c.-265C>T|1058|MSH6|protein_coding|CODING|NM_001281494.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,"RCV000075015.1,RCV000030277.2|RCV000035327.2|RCV000132355.1",,0.0041,0.0432,0.1034,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,FOXN2,SILENT,NM_002158.3:p.Ser322Ser/c.966C>T,tcC/tcT,LOW,,0.255591,0.4603,rs17855177,,,,,,chr2,48602252,48602252,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser322Ser/c.966C>T|431|FOXN2|protein_coding|CODING|NM_002158.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2014,0.2104,0.3101,0.27,0.16,0.32,,,,,,,,,,,,,,,,
synonymous_variant,PPP1R21,SILENT,NM_001135629.2:p.Gly87Gly/c.261C>G,ggC/ggG,LOW,COSM3758254(1),0.0305511,0,rs76587580,,,,,,chr2,48681868,48681868,C,G,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly87Gly/c.261C>G|780|PPP1R21|protein_coding|CODING|NM_001135629.2|3|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly87Gly/c.261C>G|738|PPP1R21|protein_coding|CODING|NM_001193475.1|3|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly87Gly/c.261C>G|769|PPP1R21|protein_coding|CODING|NM_152994.4|3|1),non_coding_exon_variant(MODIFIER|||n.485C>G||PPP1R21||CODING|NR_024188.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0476,0.1103,0.08,0.02,0.10,,,,,,,,,,,,,,,,
synonymous_variant,STON1,SILENT,NM_001198595.1:p.Lys716Lys/c.2148G>A,aaG/aaA,LOW,COSM3758269(1),0.485623,0.5575,rs2140551,,,,,,chr2,48822381,48822381,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys716Lys/c.2148G>A|735|STON1|protein_coding|CODING|NM_001198595.1|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys716Lys/c.2148G>A|735|STON1|protein_coding|CODING|NM_006873.3|4|1),intron_variant(MODIFIER|||c.2133+3387G>A|1158|STON1-GTF2A1L|protein_coding|CODING|NM_001198593.1|3|1),intron_variant(MODIFIER|||c.2133+3387G>A|1135|STON1-GTF2A1L|protein_coding|CODING|NM_001198594.1|2|1),intron_variant(MODIFIER|||c.2133+3387G>A|1182|STON1-GTF2A1L|protein_coding|CODING|NM_172311.2|3|1)",IMR90:H3K36me3,,,,0.5501,0.5749,0.5577,0.47,0.32,0.55,,,,,,,,,,,,,,,,
synonymous_variant,STON1-GTF2A1L,SILENT,NM_172311.2:p.Val1140Val/c.3420T>A,gtT/gtA,LOW,,0.985024,1,rs3920390,,,,,,chr2,48898798,48898798,T,A,hom,"synonymous_variant(LOW|SILENT|gtT/gtA|p.Val402Val/c.1206T>A|444|GTF2A1L|protein_coding|CODING|NM_001193487.2|7|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val1140Val/c.3420T>A|1158|STON1-GTF2A1L|protein_coding|CODING|NM_001198593.1|10|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val1093Val/c.3279T>A|1135|STON1-GTF2A1L|protein_coding|CODING|NM_001198594.1|7|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val436Val/c.1308T>A|478|GTF2A1L|protein_coding|CODING|NM_006872.4|8|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val1140Val/c.3420T>A|1182|STON1-GTF2A1L|protein_coding|CODING|NM_172311.2|10|1)",,,,,0.9581,0.9957,0.9712,0.98,1.00,0.97,,,,,,,,,,,,,,,,
synonymous_variant,LHCGR,SILENT,NM_000233.3:p.Asp355Asp/c.1065T>C,gaT/gaC,LOW,,0.592252,0.9236,rs11125179,,,,,,chr2,48915871,48915871,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp355Asp/c.1065T>C|699|LHCGR|protein_coding|CODING|NM_000233.3|11|1),intron_variant(MODIFIER|||c.3441+17052A>G|1158|STON1-GTF2A1L|protein_coding|CODING|NM_001198593.1|10|1)",HepG2:H3K27me3,,,,0.6094,0.6643,0.6382,0.50,0.31,0.59,,,,,,,,,,,,,,,,
missense_variant,LHCGR,MISSENSE,NM_000233.3:p.Asn312Ser/c.935A>G,aAt/aGt,MODERATE,COSM3766585(1),0.591054,0.9276,rs2293275,,0.003(B),0.495(N),-0.9845(T),,chr2,48921375,48921375,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn312Ser/c.935A>G|699|LHCGR|protein_coding|CODING|NM_000233.3|10|1),intron_variant(MODIFIER|||c.3441+22556T>C|1158|STON1-GTF2A1L|protein_coding|CODING|NM_001198593.1|10|1)","GM12878:H3K27me3,IMR90:DNase1,H1ESC:DNase1,NH-A:DNase1",,,,0.6217,0.6657,0.6402,0.49,0.30,0.59,,0.180938(N),0.000(P),"-0.95,-0.77,-1.14,-0.97(T,T,T,T)",0.0000(T),0.083,0.007198,5.09,3.9,0.460000,0.848000,1.185000,0.151000,0.794000,0.889000,9.9216
missense_variant,ERLEC1,MISSENSE,NM_015701.4:p.Val318Leu/c.952G>C,Gtg/Ctg,MODERATE,COSM4001694(1),0.108626,0.1677,rs2287345,0.68(T),"0.0,0.0(B,B)",,-1.0299(T),,chr2,54035508,54035508,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val318Leu/c.952G>C|457|ERLEC1|protein_coding|CODING|NM_001127397.2|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val318Leu/c.952G>C|483|ERLEC1|protein_coding|CODING|NM_015701.4|9|1),intron_variant(MODIFIER|||c.102-42786C>G|556|GPR75-ASB3|protein_coding|CODING|NM_001164165.1|1|1),intron_variant(MODIFIER|||c.880-843G>C|429|ERLEC1|protein_coding|CODING|NM_001127398.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1002,0.1254,0.0746,0.07,0.07,0.07,,0.171256(N),0.999(P),"0.98,1.0(T,T)",0.0001(T),0.012,0.374535,5.09,-10.2,-0.458000,-1.777000,-0.172000,0.721000,0.014000,0.003000,12.91
synonymous_variant,PSME4,SILENT,NM_014614.2:p.Leu1448Leu/c.4342T>C,Ttg/Ctg,LOW,COSM3758273(1),0.352037,0.4742,rs805400,,,,,,chr2,54115904,54115904,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1448Leu/c.4342T>C|1843|PSME4|protein_coding|CODING|NM_014614.2|38|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5174,0.2579,0.3072,0.28,0.22,0.31,,,,,,,,,,,,,,,,
missense_variant,PSME4,MISSENSE,NM_014614.2:p.Ser1371Thr/c.4111T>A,Tca/Aca,MODERATE,COSM3758274(1),0.349241,0.4742,rs805408,0.53(T),"0.006,0.001,0.001(B,B,B)",-0.17(N),-1.0049(T),,chr2,54120025,54120025,A,T,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser1371Thr/c.4111T>A|1843|PSME4|protein_coding|CODING|NM_014614.2|36|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.2522,0.3002,0.27,0.21,0.30,,0.000251(D),0.000(P),"-0.2,-0.2(T,T)",0.0000(T),0.065,1.226633,5.41,5.41,0.454000,2.060000,4.976000,0.997000,1.000000,1.000000,15.4442
synonymous_variant,PSME4,SILENT,NM_014614.2:p.Cys1343Cys/c.4029C>T,tgC/tgT,LOW,,0.573083,0.7312,rs805412,,,,,,chr2,54120820,54120820,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1343Cys/c.4029C>T|1843|PSME4|protein_coding|CODING|NM_014614.2|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6319,0.4553,0.4374,0.46,0.52,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PSME4,SILENT,NM_014614.2:p.Gln1133Gln/c.3399G>A,caG/caA,LOW,,0.608626,0.7331,rs805423,,,,,,chr2,54127041,54127041,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1133Gln/c.3399G>A|1843|PSME4|protein_coding|CODING|NM_014614.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.4741,0.494,0.52,0.59,0.48,,,,,,,,,,,,,,,,
synonymous_variant,PSME4,SILENT,NM_014614.2:p.Ser978Ser/c.2934A>G,tcA/tcG,LOW,COSM3758276(1),0.213858,0.1558,rs386615067,,,,,,chr2,54133744,54133744,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser978Ser/c.2934A>G|1843|PSME4|protein_coding|CODING|NM_014614.2|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3579,0.2205,0.2664,0.23,0.13,0.28,,,,,,,,,,,,,,,,
synonymous_variant,PSME4,SILENT,NM_014614.2:p.Leu643Leu/c.1927T>C,Ttg/Ctg,LOW,COSM3758278(2),0.112819,0.254,rs3213775,,,,,,chr2,54150237,54150237,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu643Leu/c.1927T>C|1843|PSME4|protein_coding|CODING|NM_014614.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1104,0.1455,0.0746,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,PSME4,MISSENSE,NM_014614.2:p.Glu31Asp/c.93G>T,gaG/gaT,MODERATE,,0.0227636,0.001,rs78645734,0.24(T),0.041(B),1.18(L),-1.0730(T),,chr2,54197829,54197829,C,A,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu31Asp/c.93G>T|1843|PSME4|protein_coding|CODING|NM_014614.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0378,0.0591,0.0308,0.03,0.01,0.04,,,1.000(D),1.77(T),0.0079(T),0.024,2.543979,3.79,1.98,-1.045000,0.276000,1.804000,0.930000,1.000000,1.000000,7.5316
missense_variant,TSPYL6,MISSENSE,NM_001003937.2:p.Gly109Ser/c.325G>A,Ggc/Agc,MODERATE,COSM148855(4),0.270168,0.2966,rs386617087,0.43(T),0.007(B),0.97(L),-0.9356(T),,chr2,54482964,54482964,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly109Ser/c.325G>A|410|TSPYL6|protein_coding|CODING|NM_001003937.2|1|1),intron_variant(MODIFIER|||c.186-48861C>T|99|ACYP2|protein_coding|CODING|NM_138448.3|3|1)","K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:H3K9ac,K562:Yy1,HepG2:H3K36me3,K562:H3K4me2",,,,0.3793,0.1902,0.2624,0.24,0.22,0.26,,,1.000(P),2.16(T),0.0000(T),0.007,0.189912,1.15,-2.31,-0.366000,-1.916000,-0.965000,0.001000,0.000000,0.000000,2.5356
missense_variant,C2orf73,MISSENSE,NM_001100396.1:p.Pro254Leu/c.761C>T,cCt/cTt,MODERATE,,0.676717,0.6429,rs2280718,,"0.161,0.161(B,B)",1.7(L),-0.9772(T),,chr2,54587596,54587596,C,T,hom,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro254Leu/c.761C>T|287|C2orf73|protein_coding|CODING|NM_001100396.1|5|1),"HepG2:H3K4me2,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1",,,,0.5849,0.7522,0.7903,0.76,0.69,0.80,,0.000704(D),0.086(P),"-0.48,-0.48(T,T)",0.0000(T),0.112,3.864774,5.05,3.18,0.557000,0.584000,1.105000,0.563000,0.034000,0.486000,8.3023
missense_variant,C2orf73,MISSENSE,NM_001100396.1:p.Arg275Thr/c.824G>C,aGg/aCg,MODERATE,COSM4001697(1),0.178115,0.126,rs13184,,"0.361,0.288(B,B)",0.805(L),-0.9595(T),,chr2,54587659,54587659,G,C,het,missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg275Thr/c.824G>C|287|C2orf73|protein_coding|CODING|NM_001100396.1|5|1),"HepG2:H3K4me2,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1",,,,0.1431,0.1671,0.2127,0.21,0.22,0.21,,0.002997(N),1.000(P),1.71(T),0.0000(T),0.118,1.558244,5.05,-0.156,-0.259000,-0.017000,1.265000,0.003000,0.034000,0.695000,5.6486
synonymous_variant,SPTBN1,SILENT,NM_003128.2:p.Asn1109Asn/c.3327C>T,aaC/aaT,LOW,COSM148857(1),0.240415,0.2788,rs1052788,,,,,,chr2,54858511,54858511,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1109Asn/c.3327C>T|2364|SPTBN1|protein_coding|CODING|NM_003128.2|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1096Asn/c.3288C>T|2155|SPTBN1|protein_coding|CODING|NM_178313.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3027,0.3343,0.336,0.23,0.09,0.30,,,,,,,,,,,,,,,,
synonymous_variant,SPTBN1,SILENT,NM_003128.2:p.Pro2100Pro/c.6300G>A,ccG/ccA,LOW,COSM148858(1),0.278155,0.2877,rs1052820,,,,,,chr2,54886347,54886347,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2100Pro/c.6300G>A|2364|SPTBN1|protein_coding|CODING|NM_003128.2|31|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2087Pro/c.6261G>A|2155|SPTBN1|protein_coding|CODING|NM_178313.2|30|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3119,0.3617,0.3469,0.28,0.19,0.32,,,,,,,,,,,,,,,,
synonymous_variant,EML6,SILENT,NM_001039753.2:p.Pro85Pro/c.255A>G,ccA/ccG,LOW,,0.786342,0.7649,rs2631840,,,,,,chr2,55040426,55040426,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro85Pro/c.255A>G|1958|EML6|protein_coding|CODING|NM_001039753.2|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.7485,0.8948,0.8579,,,,,,,,,,,,,,,,,,,
synonymous_variant,EML6,SILENT,NM_001039753.2:p.Ala1259Ala/c.3777C>T,gcC/gcT,LOW,COSN166092,0.122204,0.1855,rs386609400,,,,,,chr2,55155551,55155551,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1259Ala/c.3777C>T|1958|EML6|protein_coding|CODING|NM_001039753.2|26|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.2127,0.1988,0.0706,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,EML6,SILENT,NM_001039753.2:p.Arg1617Arg/c.4849A>C,Agg/Cgg,LOW,COSM4001702(1),0.49361,0.6935,rs17346629,,,,,,chr2,55186394,55186394,A,C,hom,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg1617Arg/c.4849A>C|1958|EML6|protein_coding|CODING|NM_001039753.2|33|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4376,0.5865,0.6928,0.58,0.27,0.72,,,,,,,,,,,,,,,,
missense_variant,RTN4,MISSENSE,NM_020532.4:p.Glu1105Ala/c.3314A>C,gAa/gCa,MODERATE,,,,,0(D),"0.998,0.997,0.998,0.999(D,D,D,D)",2.265(M),-0.4017(T),,chr2,55209697,55209697,T,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu112Ala/c.335A>C|199|RTN4|protein_coding|CODING|NM_007008.2|3|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu1105Ala/c.3314A>C|1192|RTN4|protein_coding|CODING|NM_020532.4|5|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu286Ala/c.857A>C|373|RTN4|protein_coding|CODING|NM_153828.2|3|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu305Ala/c.914A>C|392|RTN4|protein_coding|CODING|NM_207520.1|4|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu899Ala/c.2696A>C|986|RTN4|protein_coding|CODING|NM_207521.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"0.84,0.84,0.84,0.84,0.84,0.84,0.84,0.84,0.84,0.84(T,T,T,T,T,T,T,T,T,T)",0.3127(T),0.864,5.003911,5.84,5.84,0.482000,2.226000,7.950000,0.994000,1.000000,1.000000,16.2055
missense_variant,RTN4,MISSENSE,NM_020532.4:p.Ala71Thr/c.211G>A,Gcc/Acc,MODERATE,,0.108626,0.1736,rs117465650,0.57(T),"0.0,0.0,0.01(B,B,B)",0.695(N),-1.0483(T),,chr2,55277226,55277226,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala71Thr/c.211G>A|1192|RTN4|protein_coding|CODING|NM_020532.4|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala71Thr/c.211G>A|373|RTN4|protein_coding|CODING|NM_153828.2|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala71Thr/c.211G>A|392|RTN4|protein_coding|CODING|NM_207520.1|1|1),upstream_gene_variant(MODIFIER||900||986|RTN4|protein_coding|CODING|NM_207521.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,K562:Znf263,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,NH-A:H3K4me3,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,IMR90:H3K18ac,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.181,0.1671,0.0686,0.04,0.01,0.05,,0.631263(U),0.000(P),"1.27,1.27,1.27,1.27(T,T,T,T)",0.0003(T),0.156,1.460434,3.51,1.56,0.655000,0.250000,0.654000,0.033000,0.538000,0.691000,4.0476
missense_variant,CLHC1,MISSENSE,NM_152385.2:p.Ala503Val/c.1508C>T,gCa/gTa,MODERATE,,0.469249,0.4851,rs14026,0.62(T),0.0(B),-1.01(N),-0.9227(T),,chr2,55404794,55404794,G,A,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala381Val/c.1142C>T|464|CLHC1|protein_coding|CODING|NM_001135598.1|10|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala503Val/c.1508C>T|586|CLHC1|protein_coding|CODING|NM_152385.2|12|1)",,,,,0.3896,0.4683,0.5179,0.51,0.47,0.53,,0.577255(N),1.000(P),"1.52,2.27,2.27,2.26(T,T,T,T)",0.0000(T),0.032,-0.693036,5.64,1.85,-0.381000,0.427000,0.430000,0.007000,0.839000,0.009000,3.5936
missense_variant,CLHC1,MISSENSE,NM_152385.2:p.Val426Ile/c.1276G>A,Gtc/Atc,MODERATE,,0.965056,0.9762,rs6716066,1(T),0.0(B),-0.75(N),-0.9468(T),,chr2,55407754,55407754,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val304Ile/c.910G>A|464|CLHC1|protein_coding|CODING|NM_001135598.1|9|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val426Ile/c.1276G>A|586|CLHC1|protein_coding|CODING|NM_152385.2|11|1)","IMR90:H3K36me3,HepG2:FOXA2,NHEK:H3K36me3,HepG2:FOXA1",,,,0.8906,0.9856,0.9692,0.98,0.99,0.98,,0.001163(N),0.000(P),"1.1,1.1,1.1(T,T,T)",0.0000(T),0.056,0.020359,5.98,3.59,-0.332000,0.481000,1.573000,0.934000,0.601000,0.961000,7.2961
missense_variant,MTIF2,MISSENSE,NM_001005369.1:p.Val556Ile/c.1666G>A,Gta/Ata,MODERATE,,0.628794,0.624,rs11357,1(T),0.022(B),-1.115(N),-0.9512(T),,chr2,55470115,55470115,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val556Ile/c.1666G>A|727|MTIF2|protein_coding|CODING|NM_001005369.1|14|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val556Ile/c.1666G>A|727|MTIF2|protein_coding|CODING|NM_002453.2|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6319,0.745,0.7942,0.69,0.52,0.78,,0.000320(N),1.000(P),"1.36,1.36,1.36,1.36(T,T,T,T)",0.0000(T),0.11,0.238353,5.84,2.14,-0.982000,-0.087000,0.850000,0.853000,0.832000,1.000000,9.5781
synonymous_variant,MTIF2,SILENT,NM_001005369.1:p.Pro173Pro/c.519A>T,ccA/ccT,LOW,COSM148862(2),0.0776757,0.0446,rs2230370,,,,,,chr2,55481322,55481322,T,A,het,"synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro173Pro/c.519A>T|727|MTIF2|protein_coding|CODING|NM_001005369.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro173Pro/c.519A>T|727|MTIF2|protein_coding|CODING|NM_002453.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1196,0.1657,0.1044,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,MTIF2,MISSENSE,NM_001005369.1:p.Thr59Asn/c.176C>A,aCt/aAt,MODERATE,,0.629193,0.627,rs1056445,0.55(T),0.019(B),0.69(N),-0.9761(T),,chr2,55490819,55490819,G,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|727|MTIF2|protein_coding|CODING|NM_001005369.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|727|MTIF2|protein_coding|CODING|NM_002453.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.635,0.745,0.7922,0.69,0.52,0.78,,0.687674(N),1.000(P),"0.38,0.38,0.38,0.92,0.92,0.92(T,T,T,T,T,T)",0.0000(T),0.098,1.251990,5.18,1.38,-1.218000,0.050000,0.033000,0.010000,0.000000,0.000000,10.6259
missense_variant,CCDC88A,MISSENSE,NM_001135597.1:p.Val1695Ile/c.5083G>A,Gta/Ata,MODERATE,,,,rs140794014,0.08(T),,-0.69(N),-1.0169(T),,chr2,55523399,55523399,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1695Ile/c.5083G>A|1870|CCDC88A|protein_coding|CODING|NM_001135597.1|30|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1695Ile/c.5083G>A|1796|CCDC88A|protein_coding|CODING|NM_001254943.1|30|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1668Ile/c.5002G>A|1843|CCDC88A|protein_coding|CODING|NM_018084.4|29|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,,1.000(N),,0.0378(T),.,-0.126762,4.99,2.59,-0.332000,0.329000,1.625000,0.897000,1.000000,1.000000,8.3921
missense_variant,CCDC104,MISSENSE,NM_001282761.1:p.Asp268Gly/c.803A>G,gAc/gGc,MODERATE,COSM4001707(1),0.826278,0.4821,rs1045910,0.91(T),"0.0,0.0(B,B)",-1.39(N),-0.9927(T),,chr2,55771161,55771161,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp268Gly/c.803A>G|367|CCDC104|protein_coding|CODING|NM_001282761.1|9|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp243Gly/c.728A>G|342|CCDC104|protein_coding|CODING|NM_080667.6|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7975,0.8977,0.9414,0.95,0.97,0.94,,0.006586(N),0.001(P),"2.3,2.31,2.31(T,T,T)",0.0000(T),0.082,0.440033,5.93,2.01,-0.119000,0.098000,0.262000,0.908000,0.921000,0.276000,8.4783
missense_variant,SMEK2,MISSENSE,NM_001122964.2:p.Ile503Val/c.1507A>G,Ata/Gta,MODERATE,,0.991414,1,rs2903704,0.27(T),0.0(B),-0.69(N),-1.0280(T),,chr2,55805440,55805440,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile503Val/c.1507A>G|849|SMEK2|protein_coding|CODING|NM_001122964.2|10|1),intron_variant(MODIFIER|||c.1469-948A>G|817|SMEK2|protein_coding|CODING|NM_001282850.1|9|1),intron_variant(MODIFIER|||c.1469-948A>G|764|SMEK2|protein_coding|CODING|NM_020463.3|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9784,0.9771,,,,,,1.000(P),1.57(T),0.0000(T),0.062,-1.565811,2.31,-2.24,-1.501000,-0.656000,-0.323000,0.074000,0.000000,0.001000,0.5475
missense_variant,PNPT1,MISSENSE,NM_033109.4:p.Gly636Asp/c.1907G>A,gGt/gAt,MODERATE,,,,rs143197548,0.01(D),1.0(D),2.98(M),-0.1650(T),,chr2,55870560,55870560,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly636Asp/c.1907G>A|783|PNPT1|protein_coding|CODING|NM_033109.4|24|1),splice_region_variant(LOW|||c.1907G>A|783|PNPT1|protein_coding|CODING|NM_033109.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.000000(D),1.000(D),0.74(T),0.3865(T),0.794,4.898746,5.6,5.6,0.467000,2.629000,7.314000,0.960000,1.000000,1.000000,19.6066
synonymous_variant,PNPT1,SILENT,NM_033109.4:p.Arg464Arg/c.1390C>A,Cga/Aga,LOW,,0.356629,0.1429,rs2627765,,,,,,chr2,55883317,55883317,G,T,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg464Arg/c.1390C>A|783|PNPT1|protein_coding|CODING|NM_033109.4|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.4899,0.5785,0.49,0.35,0.56,,,,,,,,,,,,,,,,
missense_variant,PNPT1,MISSENSE,NM_033109.4:p.Ile121Val/c.361A>G,Att/Gtt,MODERATE,,0.328075,0.1498,rs782572,0.26(T),0.005(B),-0.345(N),-0.9201(T),,chr2,55912120,55912120,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile121Val/c.361A>G|783|PNPT1|protein_coding|CODING|NM_033109.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.227,0.4582,0.5209,0.45,0.34,0.50,,0.040097(N),0.554(P),-0.01(T),0.0000(T),0.044,1.690042,5.55,0.133,0.460000,0.367000,2.017000,0.993000,0.997000,0.993000,1.9614
missense_variant,CCDC85A,MISSENSE,NM_001080433.1:p.Pro20Ser/c.58C>T,Cca/Tca,MODERATE,COSM3749672(8),0.713658,0.878,rs35587531,0.69(T),0.0(B),0(N),-0.9928(T),,chr2,56411817,56411817,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro20Ser/c.58C>T|553|CCDC85A|protein_coding|CODING|NM_001080433.1|1|1),intron_variant(MODIFIER|||n.73+1016G>A||LOC100129434||NON_CODING|NR_125368.1|1|1)","GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.6973,0.8487,0.8688,,,,,0.914308(N),1.000(P),,0.0000(T),0.085,1.467128,3.79,0.175,0.478000,-0.079000,-0.747000,0.702000,0.100000,0.000000,1.5864
missense_variant,VRK2,MISSENSE,NM_001130480.2:p.Ile167Val/c.499A>G,Ata/Gta,MODERATE,COSM4001712(1),0.301917,0.4117,rs1051061,0.09(T),"0.994,0.99,0.727,0.569(D,D,P,P)",2.305(M),-0.9359(T),,chr2,58316814,58316814,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile167Val/c.499A>G|508|VRK2|protein_coding|CODING|NM_001130480.2|7|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile167Val/c.499A>G|508|VRK2|protein_coding|CODING|NM_001130481.2|7|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile144Val/c.430A>G|485|VRK2|protein_coding|CODING|NM_001130482.2|7|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile167Val/c.499A>G|396|VRK2|protein_coding|CODING|NM_001130483.2|7|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile49Val/c.145A>G|390|VRK2|protein_coding|CODING|NM_001288836.1|8|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile167Val/c.499A>G|508|VRK2|protein_coding|CODING|NM_001288837.1|10|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile167Val/c.499A>G|396|VRK2|protein_coding|CODING|NM_001288838.1|9|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile49Val/c.145A>G|390|VRK2|protein_coding|CODING|NM_001288839.1|6|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile167Val/c.499A>G|508|VRK2|protein_coding|CODING|NM_006296.6|7|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.363,0.3703,0.3966,0.30,0.11,0.40,,0.000000(D),0.001(P),"1.65,1.65,1.65,1.65,1.65(T,T,T,T,T)",0.0000(T),0.314,4.021668,5.67,5.67,0.477000,2.150000,3.798000,0.998000,1.000000,1.000000,14.8794
synonymous_variant,FANCL,SILENT,NM_001114636.1:p.Ser332Ser/c.996T>C,tcT/tcC,LOW,COSM4001713(1),0.70647,0.5883,rs848291,,,,,,chr2,58388696,58388696,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser332Ser/c.996T>C|380|FANCL|protein_coding|CODING|NM_001114636.1|12|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser327Ser/c.981T>C|375|FANCL|protein_coding|CODING|NM_018062.3|12|1),downstream_gene_variant(MODIFIER||1641||508|VRK2|protein_coding|CODING|NM_001130480.2||1),downstream_gene_variant(MODIFIER||1641||508|VRK2|protein_coding|CODING|NM_001130481.2||1),downstream_gene_variant(MODIFIER||1641||485|VRK2|protein_coding|CODING|NM_001130482.2||1),downstream_gene_variant(MODIFIER||1641||396|VRK2|protein_coding|CODING|NM_001130483.2||1),downstream_gene_variant(MODIFIER||1641||390|VRK2|protein_coding|CODING|NM_001288836.1||1),downstream_gene_variant(MODIFIER||1641||508|VRK2|protein_coding|CODING|NM_001288837.1||1),downstream_gene_variant(MODIFIER||1641||396|VRK2|protein_coding|CODING|NM_001288838.1||1),downstream_gene_variant(MODIFIER||1641||390|VRK2|protein_coding|CODING|NM_001288839.1||1),downstream_gene_variant(MODIFIER||1641||508|VRK2|protein_coding|CODING|NM_006296.6||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6411,0.6412,0.6173,0.70,0.90,0.60,,,,,,,,,,,,,,,,
synonymous_variant,PUS10,SILENT,NM_144709.2:p.Lys439Lys/c.1317A>G,aaA/aaG,LOW,,0.455471,0.1687,rs12479056,,,,,,chr2,61175312,61175312,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys439Lys/c.1317A>G|529|PUS10|protein_coding|CODING|NM_144709.2|16|1),"NHEK:H3K27ac,NHEK:H3K4me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.5274,0.6889,0.65,0.61,0.68,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1841,SILENT,NM_001129993.1:p.Lys216Lys/c.648A>G,aaA/aaG,LOW,COSM148865(1),0.345847,0.4167,rs1729659,,,,,,chr2,61304271,61304271,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys216Lys/c.648A>G|718|KIAA1841|protein_coding|CODING|NM_001129993.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys216Lys/c.648A>G|707|KIAA1841|protein_coding|CODING|NM_032506.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.18,0.4294,0.3191,0.35,0.38,0.33,,,,,,,,,,,,,,,,
missense_variant,C2orf74,MISSENSE,NM_001143959.1:p.Tyr37Asp/c.109T>G,Tat/Gat,MODERATE,COSM3758294(1),0.39377,0.3968,rs1729674,0(D),0.748(P),0.805(L),-0.9278(T),,chr2,61389737,61389737,T,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr37Asp/c.109T>G|194|C2orf74|protein_coding|CODING|NM_001143959.1|1|1),intron_variant(MODIFIER|||c.-121-240T>G|115|C2orf74|protein_coding|CODING|NM_001143960.1|1|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2628,0.389,0.4533,,,,,,1.000(P),,0.0000(T),0.631,1.933117,4.9,2.31,0.254000,0.831000,1.552000,0.582000,0.939000,0.829000,1.6236
stop_gained,C2orf74,NONSENSE,NM_001143959.1:p.Glu189*/c.565G>T,Gaa/Taa,HIGH,,,,,0.12(T),,,,,chr2,61391642,61391642,G,T,het,"stop_gained(HIGH|NONSENSE|Gaa/Taa|p.Glu189*/c.565G>T|194|C2orf74|protein_coding|CODING|NM_001143959.1|4|1),stop_gained(HIGH|NONSENSE|Gaa/Taa|p.Glu110*/c.328G>T|115|C2orf74|protein_coding|CODING|NM_001143960.1|4|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),,,.,1.089508,4.83,0.827,0.549000,0.036000,0.321000,0.754000,0.007000,0.274000,1.4225
synonymous_variant,USP34,SILENT,NM_014709.3:p.Ala3462Ala/c.10386T>C,gcT/gcC,LOW,,0.411741,0.3929,rs14170,,,,,,chr2,61415492,61415492,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3462Ala/c.10386T>C|3546|USP34|protein_coding|CODING|NM_014709.3|80|1),downstream_gene_variant(MODIFIER||806||137|AHSA2|protein_coding|CODING|NM_152392.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.4164,0.4901,0.49,0.48,0.49,,,0.000(P),,,.,0.046111,5.52,-0.572,0.482000,0.049000,-0.555000,0.987000,0.957000,0.078000,3.133
missense_variant,USP34,MISSENSE,NM_014709.3:p.His2064Gln/c.6192T>A,caT/caA,MODERATE,,0.0207668,0,rs72811482,1(T),0.0(B),-1.56(N),-0.9025(T),,chr2,61483548,61483548,A,T,het,missense_variant(MODERATE|MISSENSE|caT/caA|p.His2064Gln/c.6192T>A|3546|USP34|protein_coding|CODING|NM_014709.3|48|1),"NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,GM06990:H3K36me3",,,,0.0082,0.0274,0.0726,0.04,0.01,0.06,,0.000000(D),0.932(D),"3.46,3.46(T,T)",0.0004(T),0.141,-0.077426,5.66,0.517,-0.299000,-0.138000,1.121000,0.988000,0.997000,1.000000,5.7711
synonymous_variant,USP34,SILENT,NM_014709.3:p.Glu1474Glu/c.4422A>G,gaA/gaG,LOW,,0.994609,1,rs13014347,,,,,,chr2,61522123,61522123,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1474Glu/c.4422A>G|3546|USP34|protein_coding|CODING|NM_014709.3|32|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,0.9791,0.99,1.00,0.98,,,,,,,,,,,,,,,,
missense_variant,USP34,MISSENSE,NM_014709.3:p.Met661Thr/c.1982T>C,aTg/aCg,MODERATE,,0.993011,1,rs6722430,0.65(T),0.0(B),0(N),-0.9801(T),,chr2,61575308,61575308,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met661Thr/c.1982T>C|3546|USP34|protein_coding|CODING|NM_014709.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9928,0.9899,0.9801,0.99,1.00,0.98,,0.542604(N),1.000(P),1.2(T),0.0000(T),0.013,0.073529,5.75,3.83,-0.226000,0.777000,1.301000,0.589000,0.957000,0.827000,7.4528
synonymous_variant,USP34,SILENT,NM_014709.3:p.Ala489Ala/c.1467A>G,gcA/gcG,LOW,COSM4001720(2),0.202476,0.2907,rs2166720,,,,,,chr2,61577435,61577435,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala489Ala/c.1467A>G|3546|USP34|protein_coding|CODING|NM_014709.3|12|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3579,0.2421,0.1779,0.12,0.04,0.15,,,,,,,,,,,,,,,,
synonymous_variant,FAM161A,SILENT,NM_001201543.1:p.Cys404Cys/c.1212T>C,tgT/tgC,LOW,,0.979633,0.999,rs4672457,,,,,,chr2,62066927,62066927,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys404Cys/c.1212T>C|716|FAM161A|protein_coding|CODING|NM_001201543.1|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys404Cys/c.1212T>C|660|FAM161A|protein_coding|CODING|NM_032180.2|3|1),non_coding_exon_variant(MODIFIER|||n.1258T>C||FAM161A||CODING|NR_037710.1|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K36me3",,RCV000082296.1,,0.9796,0.9438,0.9632,0.98,1.00,0.97,,,,,,,,,,,,,,,,
missense_variant,FAM161A,MISSENSE,NM_001201543.1:p.Ile236Val/c.706A>G,Att/Gtt,MODERATE,,0.116414,0.0863,rs17513722,0.5(T),"0.52,0.138(P,B)",1.81(L),-1.0091(T),,chr2,62067433,62067433,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile236Val/c.706A>G|716|FAM161A|protein_coding|CODING|NM_001201543.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile236Val/c.706A>G|660|FAM161A|protein_coding|CODING|NM_032180.2|3|1),non_coding_exon_variant(MODIFIER|||n.752A>G||FAM161A||CODING|NR_037710.1|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K36me3",,,,0.1217,0.1427,0.2227,0.19,0.07,0.24,,0.000470(D),0.677(P),"1.51,1.51(T,T)",0.0000(T),0.188,1.860464,5.55,4.38,0.533000,0.919000,1.029000,0.375000,0.442000,0.782000,7.9646
synonymous_variant,FAM161A,SILENT,NM_001201543.1:p.Ala55Ala/c.165T>G,gcT/gcG,LOW,,0.979433,0.999,rs4270331,,,,,,chr2,62081012,62081012,A,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala55Ala/c.165T>G|716|FAM161A|protein_coding|CODING|NM_001201543.1|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala55Ala/c.165T>G|660|FAM161A|protein_coding|CODING|NM_032180.2|1|1),non_coding_exon_variant(MODIFIER|||n.267T>G||FAM161A||CODING|NR_037710.1|1|1)","H1ESC:PolII,CD4:H3K9me1,CD4:H2AZ,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27ac,HeLa-S3:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4",,,,0.9796,0.9438,0.9622,0.98,1.00,0.97,,,,,,,,,,,,,,,,
synonymous_variant,CCT4,SILENT,NM_006430.3:p.Ile322Ile/c.966C>A,atC/atA,LOW,COSM3758298(1),0.141374,0.0109,rs76248080,,,,,,chr2,62100380,62100380,G,T,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile292Ile/c.876C>A|509|CCT4|protein_coding|CODING|NM_001256721.1|8|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile322Ile/c.966C>A|539|CCT4|protein_coding|CODING|NM_006430.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1544,0.0908,0.172,0.17,0.22,0.15,,,,,,,,,,,,,,,,
synonymous_variant,TMEM17,SILENT,NM_198276.2:p.Leu72Leu/c.216A>G,ttA/ttG,LOW,,0.811302,0.6865,rs4672527,,,,,,chr2,62729674,62729674,T,C,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu72Leu/c.216A>G|198|TMEM17|protein_coding|CODING|NM_198276.2|3|1),"K562:H3K27ac,HMEC:H3K27ac,NHEK:H3K36me3",,,,0.8323,0.7752,0.8718,0.88,0.86,0.89,,,,,,,,,,,,,,,,
synonymous_variant,VPS54,SILENT,NM_016516.2:p.Tyr212Tyr/c.636T>C,taT/taC,LOW,,0.124201,0.006,rs17028275,,,,,,chr2,64189566,64189566,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr200Tyr/c.600T>C|965|VPS54|protein_coding|CODING|NM_001005739.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr212Tyr/c.636T>C|977|VPS54|protein_coding|CODING|NM_016516.2|7|1)","NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1053,0.0447,0.0338,0.12,0.29,0.03,,,,,,,,,,,,,,,,
synonymous_variant,PELI1,SILENT,NM_020651.3:p.Thr97Thr/c.291C>A,acC/acA,LOW,,0.355631,0.752,rs329498,,,,,,chr2,64327544,64327544,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr97Thr/c.291C>A|418|PELI1|protein_coding|CODING|NM_020651.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3967,0.3127,0.2992,0.25,0.14,0.30,,,,,,,,,,,,,,,,
synonymous_variant,PELI1,SILENT,NM_020651.3:p.Leu81Leu/c.243A>G,ttA/ttG,LOW,COSM3758303(1),0.35024,0.752,rs329497,,,,,,chr2,64327592,64327592,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu81Leu/c.243A>G|418|PELI1|protein_coding|CODING|NM_020651.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3967,0.3112,0.2992,0.24,0.12,0.30,,,,,,,,,,,,,,,,
synonymous_variant,SLC1A4,SILENT,NM_003038.4:p.Ser530Ser/c.1590G>A,tcG/tcA,LOW,,0.128794,0.0109,rs7563131,,,,,,chr2,65248271,65248271,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser232Ser/c.696G>A|234|SLC1A4|protein_coding|CODING|NM_001193493.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser530Ser/c.1590G>A|532|SLC1A4|protein_coding|CODING|NM_003038.4|8|1)","HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0941,0.1009,0.1193,0.18,0.29,0.12,,,,,,,,,,,,,,,,
missense_variant,CEP68,MISSENSE,NM_015147.2:p.Gly74Ser/c.220G>A,Ggc/Agc,MODERATE,COSM1130751(4),0.115415,0.0913,rs7572857,0.64(T),"0.007,0.004,0.004,0.003,0.011(B,B,B,B,B)",-0.345(N),-0.9902(T),,chr2,65296798,65296798,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly74Ser/c.220G>A|757|CEP68|protein_coding|CODING|NM_015147.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2229,0.1239,0.171,0.13,0.04,0.18,,0.262729(N),1.000(P),"2.17,2.17,2.17(T,T,T)",0.0000(T),0.055,0.036901,3.83,-5.92,-1.012000,-1.411000,-1.258000,0.077000,0.003000,0.000000,4.7843
synonymous_variant,CEP68,SILENT,NM_015147.2:p.Thr203Thr/c.609A>G,acA/acG,LOW,COSM4001727(1),0.247404,0.3304,rs17849707,,,,,,chr2,65298839,65298839,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr203Thr/c.609A>G|757|CEP68|protein_coding|CODING|NM_015147.2|3|1),"NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,H1ESC:CTCF",,,,0.3006,0.2738,0.2256,0.21,0.18,0.23,,,,,,,,,,,,,,,,
missense_variant,CEP68,MISSENSE,NM_015147.2:p.Asn356Lys/c.1068C>A,aaC/aaA,MODERATE,,0.0740815,0,rs2723088,0.18(T),"0.173,0.124,0.032,0.523,0.173(B,B,B,P,B)",1.61(L),-1.0002(T),,chr2,65299298,65299298,C,A,het,missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn356Lys/c.1068C>A|757|CEP68|protein_coding|CODING|NM_015147.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.0749,0.1233,0.11,0.09,0.12,,0.691750(N),1.000(P),"2.49,2.51,2.51(T,T,T)",0.0006(T),0.023,1.610210,5.66,-0.786,-0.339000,-0.095000,0.132000,0.614000,0.079000,0.083000,10.0031
missense_variant,CEP68,MISSENSE,NM_015147.2:p.Cys357Ser/c.1070G>C,tGc/tCc,MODERATE,,0.0740815,0,rs2723089,0.57(T),"0.299,0.299,0.466,0.669,0.494(B,B,P,P,P)",2.14(M),-1.0511(T),,chr2,65299300,65299300,G,C,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys357Ser/c.1070G>C|757|CEP68|protein_coding|CODING|NM_015147.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.0749,0.1233,0.11,0.09,0.12,,0.012803(N),0.000(P),"2.39,2.37,2.37(T,T,T)",0.0010(T),0.233,2.883580,5.66,3.85,0.491000,1.392000,3.803000,0.605000,0.905000,0.945000,8.9366
missense_variant,CEP68,MISSENSE,NM_015147.2:p.Leu397Pro/c.1190T>C,cTt/cCt,MODERATE,,0.00599042,0,rs35501092,0.06(T),"0.116,0.116,0.039,0.037,0.116(B,B,B,B,B)",1.175(L),-1.0395(T),,chr2,65299420,65299420,T,C,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu397Pro/c.1190T>C|757|CEP68|protein_coding|CODING|NM_015147.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0173,0.0179,0.02,0.00,0.02,,0.926815(N),1.000(N),"2.33,2.16,1.25,2.16(T,T,T,T)",0.0347(T),0.133,1.961222,5.68,4.45,0.482000,2.161000,1.024000,0.122000,0.003000,0.001000,4.1112
synonymous_variant,SPRED2,SILENT,NM_181784.2:p.Ala329Ala/c.987G>C,gcG/gcC,LOW,COSM1409006(3),0.395367,0.755,rs8827,,,,,,chr2,65540905,65540905,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala326Ala/c.978G>C|415|SPRED2|protein_coding|CODING|NM_001128210.1|6|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala329Ala/c.987G>C|418|SPRED2|protein_coding|CODING|NM_181784.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.498,0.4784,0.2505,0.22,0.15,0.26,,,,,,,,,,,,,,,,
missense_variant,ETAA1,MISSENSE,NM_019002.3:p.Ser389Asn/c.1166G>A,aGt/aAt,MODERATE,COSM148867(3),0.732827,0.5685,rs3770657,1(T),0.0(B),-1.1(N),-0.9800(T),,chr2,67630980,67630980,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser389Asn/c.1166G>A|926|ETAA1|protein_coding|CODING|NM_019002.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7301,0.719,0.7296,0.76,0.85,0.72,,0.001815(N),1.000(P),2.5(T),0.0000(T),0.022,-2.185214,5.77,3.4,-0.254000,0.125000,2.213000,0.043000,0.567000,1.000000,8.8244
missense_variant,ETAA1,MISSENSE,NM_019002.3:p.Pro771Ser/c.2311C>T,Cca/Tca,MODERATE,COSM148869(3),0.745807,0.5685,rs3770655,0.94(T),0.0(B),-1.04(N),-0.9715(T),,chr2,67632125,67632125,C,T,hom,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro771Ser/c.2311C>T|926|ETAA1|protein_coding|CODING|NM_019002.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.729,0.7233,0.7316,0.78,0.89,0.72,,0.359154(N),1.000(P),2.39(T),0.0000(T),0.03,-0.956856,5.83,-8.29,-2.541000,-1.968000,-0.232000,0.003000,0.000000,0.000000,0.9202
missense_variant,WDR92,MISSENSE,NM_138458.3:p.Met241Val/c.721A>G,Atg/Gtg,MODERATE,COSM148870(1),0.177316,0.1538,rs13009282,0.23(T),0.001(B),1.4(L),-1.0915(T),,chr2,68364478,68364478,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met241Val/c.721A>G|288|WDR92|protein_coding|CODING|NM_001256476.1|6|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met241Val/c.721A>G|357|WDR92|protein_coding|CODING|NM_138458.3|6|1),non_coding_exon_variant(MODIFIER|||n.711A>G||WDR92||CODING|NR_046234.1|6|1)","HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.1626,0.1988,0.2177,0.22,0.16,0.26,,0.000212(D),0.000(P),"-2.53,1.71,-0.02(D,T,T)",0.0002(T),0.368,2.063138,6.03,4.81,0.533000,2.308000,3.431000,0.999000,1.000000,1.000000,12.2344
missense_variant,PNO1,MISSENSE,NM_020143.2:p.Arg11Gly/c.31A>G,Agg/Ggg,MODERATE,COSM443118(3),0.768371,0.6468,rs2044693,0.4(T),0.0(B),-0.55(N),-1.0258(T),,chr2,68385097,68385097,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg11Gly/c.31A>G|252|PNO1|protein_coding|CODING|NM_020143.2|1|1),upstream_gene_variant(MODIFIER||419|||WDR92||CODING|NR_046234.1||1),upstream_gene_variant(MODIFIER||405||288|WDR92|protein_coding|CODING|NM_001256476.1||1),upstream_gene_variant(MODIFIER||405||357|WDR92|protein_coding|CODING|NM_138458.3||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,HepG2:SP1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,HUVEC:FAIRE,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,K562:Sin3Ak20,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.819,0.6844,0.6223,0.74,0.92,0.65,,,1.000(P),1.51(T),0.0000(T),0.13,1.446643,5.37,2.53,-0.213000,0.401000,2.069000,0.058000,0.001000,0.022000,6.8018
synonymous_variant,PNO1,SILENT,NM_020143.2:p.Lys122Lys/c.366A>G,aaA/aaG,LOW,COSM3758305(1),0.339856,0.4881,rs1137930,,,,,,chr2,68388823,68388823,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys122Lys/c.366A>G|252|PNO1|protein_coding|CODING|NM_020143.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5409,0.353,0.327,0.24,0.13,0.30,,,,,,,,,,,,,,,,
synonymous_variant,PPP3R1,SILENT,NM_000945.3:p.Asp33Asp/c.99C>T,gaC/gaT,LOW,COSM3758306(1),0.515575,0.494,rs687,,,,,,chr2,68415767,68415767,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp33Asp/c.99C>T|170|PPP3R1|protein_coding|CODING|NM_000945.3|3|1),"IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6524,0.4798,0.4195,0.42,0.48,0.39,,,,,,,,,,,,,,,,
synonymous_variant,CNRIP1,SILENT,NM_001111101.1:p.Ser121Ser/c.363T>C,tcT/tcC,LOW,COSM148871(2),0.394169,0.5516,rs735815,,,,,,chr2,68511584,68511584,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser121Ser/c.363T>C|128|CNRIP1|protein_coding|CODING|NM_001111101.1|3|1),,,,,0.5153,0.4481,0.4404,0.36,0.19,0.43,,,,,,,,,,,,,,,,
synonymous_variant,CNRIP1,SILENT,NM_015463.2:p.Lys53Lys/c.159A>G,aaA/aaG,LOW,COSM1409045(5),0.412939,0.1558,rs4671898,,,,,,chr2,68546374,68546374,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys53Lys/c.159A>G|128|CNRIP1|protein_coding|CODING|NM_001111101.1|1|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys53Lys/c.159A>G|164|CNRIP1|protein_coding|CODING|NM_015463.2|1|1)","K562:H3K4me3,HSMM:H2AZ,GM06990:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,HMEC:H3K27me3,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K27me3,HUVEC:H3K27ac,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.4121,0.487,0.4553,0.46,0.48,0.45,,,,,,,,,,,,,,,,
missense_variant,PLEK,MISSENSE,NM_002664.2:p.Lys97Asn/c.291G>T,aaG/aaT,MODERATE,,0.427117,0.6885,rs3816281,0.46(T),"0.947,0.935(D,D)",0.565(N),-1.1235(T),,chr2,68607947,68607947,G,T,het,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys97Asn/c.291G>T|350|PLEK|protein_coding|CODING|NM_002664.2|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5051,0.415,0.2704,0.27,0.29,0.26,,0.000000(D),0.000(P),2.73(T),0.0000(T),0.126,3.328837,5.8,4.0,0.655000,1.469000,2.172000,0.989000,1.000000,1.000000,9.8947
missense_variant,PLEK,MISSENSE,NM_002664.2:p.Arg340Lys/c.1019G>A,aGa/aAa,MODERATE,COSM3758308(1),0.857428,0.9315,rs1063479,1(T),0.0(B),-0.27(N),-0.9264(T),,chr2,68622914,68622914,G,A,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg340Lys/c.1019G>A|350|PLEK|protein_coding|CODING|NM_002664.2|9|1),"GM12878:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8303,0.817,0.7087,0.79,0.92,0.72,,0.000010(N),1.000(P),-0.87(T),0.0000(T),0.017,0.678873,5.65,4.49,-1.322000,0.430000,4.577000,0.925000,1.000000,1.000000,10.0186
synonymous_variant,PROKR1,SILENT,NM_138964.2:p.Phe314Phe/c.942T>C,ttT/ttC,LOW,COSM4133893(1),0.452276,0.3919,rs6722313,,,,,,chr2,68882468,68882468,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe314Phe/c.942T>C|393|PROKR1|protein_coding|CODING|NM_138964.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4468,0.3055,0.3171,0.39,0.61,0.28,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP25,SILENT,NM_001007231.2:p.Gln252Gln/c.756G>A,caG/caA,LOW,COSM3758313(1),0.297724,0.4425,rs2280310,,,,-0.9665(T),,chr2,69040500,69040500,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln252Gln/c.756G>A|646|ARHGAP25|protein_coding|CODING|NM_001007231.2|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln245Gln/c.735G>A|639|ARHGAP25|protein_coding|CODING|NM_001166276.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln212Gln/c.636G>A|606|ARHGAP25|protein_coding|CODING|NM_001166277.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln244Gln/c.732G>A|638|ARHGAP25|protein_coding|CODING|NM_014882.2|5|1)","HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2556,0.3213,0.1839,0.22,0.27,0.19,,,0.000(P),,0.0000(T),.,1.031745,5.73,3.62,0.655000,1.432000,0.624000,0.844000,1.000000,1.000000,12.3657
missense_variant,ARHGAP25,MISSENSE,NM_001007231.2:p.Arg556Ser/c.1668G>T,agG/agT,MODERATE,,0.265974,0.4435,rs4241344,,,0(N),-0.9361(T),,chr2,69049939,69049939,G,T,het,"missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg556Ser/c.1668G>T|646|ARHGAP25|protein_coding|CODING|NM_001007231.2|10|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg549Ser/c.1647G>T|639|ARHGAP25|protein_coding|CODING|NM_001166276.1|9|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg516Ser/c.1548G>T|606|ARHGAP25|protein_coding|CODING|NM_001166277.1|9|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg548Ser/c.1644G>T|638|ARHGAP25|protein_coding|CODING|NM_014882.2|9|1)","K562:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2556,0.3156,0.1869,0.18,0.17,0.19,,,0.024(P),,0.0000(T),.,-0.243736,5.42,3.55,0.557000,0.698000,0.193000,0.615000,0.746000,0.001000,1.9238
synonymous_variant,BMP10,SILENT,NM_014482.1:p.Asp242Asp/c.726T>C,gaT/gaC,LOW,,0.141773,0.1151,rs2231344,,,,,,chr2,69093312,69093312,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp242Asp/c.726T>C|424|BMP10|protein_coding|CODING|NM_014482.1|2|1),"GM12878:H3K27me3,HepG2:H3K27me3",,,,0.0685,0.0908,0.0606,0.13,0.27,0.07,,,,,,,,,,,,,,,,
missense_variant,NFU1,MISSENSE,NM_001002755.2:p.Arg96Cys/c.286C>T,Cgc/Tgc,MODERATE,COSM3758318(1),0.0123802,0,rs74637005,0.08(T),"0.002,0.006(B,B)",-0.905(N),-1.1093(T),,chr2,69650730,69650730,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg96Cys/c.286C>T|254|NFU1|protein_coding|CODING|NM_001002755.2|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg72Cys/c.214C>T|230|NFU1|protein_coding|CODING|NM_015700.3|3|1),intron_variant(MODIFIER|||c.-121-3994C>T|113|NFU1|protein_coding|CODING|NM_001002756.2|2|1),intron_variant(MODIFIER|||n.373-3994C>T||NFU1||CODING|NR_045631.1|2|1),intron_variant(MODIFIER|||n.373-3994C>T||NFU1||CODING|NR_045632.1|2|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0245,0.0358,0.03,0.01,0.04,,0.000008(N),1.000(D),"-0.08,-0.08(T,T)",0.0204(T),0.089,1.774476,5.45,3.6,0.638000,0.628000,4.488000,0.977000,1.000000,1.000000,6.9073
synonymous_variant,AAK1,SILENT,NM_014911.3:p.Ser797Ser/c.2391T>C,tcT/tcC,LOW,COSM3758319(1),0.142772,0.0407,rs6721259,,,,,,chr2,69709919,69709919,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser797Ser/c.2391T>C|961|AAK1|protein_coding|CODING|NM_014911.3|18|1),"IMR90:H3K36me3,GM12878:EBF,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1278,0.1023,0.1938,0.17,0.18,0.17,,,,,,,,,,,,,,,,
missense_variant,AAK1,MISSENSE,NM_014911.3:p.Val603Ala/c.1808T>C,gTt/gCt,MODERATE,,0.0141773,0,rs56038532,0.57(T),"0.001,0.001,0.001(B,B,B)",-0.205(N),-1.0327(T),,chr2,69736561,69736561,A,G,het,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val603Ala/c.1808T>C|961|AAK1|protein_coding|CODING|NM_014911.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0259,0.0417,0.03,0.01,0.04,,0.120042(N),0.750(N),"1.86,1.86,1.86(T,T,T)",0.0059(T),0.054,1.519829,5.73,4.6,0.533000,2.179000,2.356000,0.997000,1.000000,0.919000,3.8794
synonymous_variant,AAK1,SILENT,NM_014911.3:p.Glu590Glu/c.1770G>A,gaG/gaA,LOW,COSM3758322(1),0.321286,0.5079,rs2276689,,,,,,chr2,69741609,69741609,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu590Glu/c.1770G>A|961|AAK1|protein_coding|CODING|NM_014911.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.318,0.4524,0.3867,0.27,0.10,0.35,,,,,,,,,,,,,,,,
synonymous_variant,AAK1,SILENT,NM_014911.3:p.Gln526Gln/c.1578G>A,caG/caA,LOW,COSM3758324(1),0.137979,0.0744,rs6757825,,,,,,chr2,69741801,69741801,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln526Gln/c.1578G>A|961|AAK1|protein_coding|CODING|NM_014911.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1708,0.0994,0.1869,0.15,0.13,0.16,,,,,,,,,,,,,,,,
missense_variant,AAK1,MISSENSE,NM_014911.3:p.Lys509Gln/c.1525A>C,Aaa/Caa,MODERATE,,1,1,rs6715776,1(T),"0.0,0.0(B,B)",-0.695(N),-0.9623(T),,chr2,69741854,69741854,T,G,hom,missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys509Gln/c.1525A>C|961|AAK1|protein_coding|CODING|NM_014911.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.506797(N),1.000(P),"1.82,1.82,1.82(T,T,T)",0.0000(T),0.052,-0.141596,5.43,4.52,-0.127000,0.821000,3.429000,0.633000,0.983000,1.000000,9.935
missense_variant,ANXA4,MISSENSE,NM_001153.3:p.Thr87Met/c.260C>T,aCg/aTg,MODERATE,,0.200679,0.1736,rs2228203,,"0.004,0.017(B,B)",-0.115(N),-0.8935(T),,chr2,70033584,70033584,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr87Met/c.260C>T|321|ANXA4|protein_coding|CODING|NM_001153.3|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.17,0.1958,0.23,0.31,0.19,,0.000028(N),0.000(P),"2.73,2.73(T,T)",0.0000(T),0.079,-1.134746,4.97,-1.3,-1.056000,-0.232000,0.043000,0.004000,0.707000,0.129000,10.5802
synonymous_variant,MXD1,SILENT,NM_002357.3:p.Leu85Leu/c.255T>G,ctT/ctG,LOW,COSM3758325(1),0.583866,0.5407,rs2228183,,,,,,chr2,70162534,70162534,T,G,het,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu85Leu/c.255T>G|220|MXD1|protein_coding|CODING|NM_001202513.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu75Leu/c.225T>G|211|MXD1|protein_coding|CODING|NM_001202514.1|3|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu85Leu/c.255T>G|221|MXD1|protein_coding|CODING|NM_002357.3|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5399,0.4035,0.4443,0.55,0.78,0.43,,,,,,,,,,,,,,,,
missense_variant,ASPRV1,MISSENSE,NM_152792.2:p.Thr49Ala/c.145A>G,Act/Gct,MODERATE,,0.698083,0.6815,rs3796097,0.32(T),0.001(B),0(N),-1.0176(T),,chr2,70188676,70188676,T,C,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr49Ala/c.145A>G|343|ASPRV1|protein_coding|CODING|NM_152792.2|1|1),downstream_gene_variant(MODIFIER||719|||PCBP1-AS1||NON_CODING|NR_033872.1||1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.592,0.7421,0.503,0.63,0.85,0.52,,0.976770(N),1.000(P),0.95(T),0.0000(T),0.01,-0.385484,3.88,-4.7,-1.088000,-1.206000,-0.869000,0.000000,0.000000,0.000000,11.8715
synonymous_variant,TGFA,SILENT,NM_003236.3:p.Val160Val/c.480C>T,gtC/gtT,LOW,COSM330436(2),0.207468,0.2877,rs2166975,,,,,,chr2,70677994,70677994,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val159Val/c.477C>T|159|TGFA|protein_coding|CODING|NM_001099691.2|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val160Val/c.480C>T|160|TGFA|protein_coding|CODING|NM_003236.3|6|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2311,0.1326,0.2565,0.24,0.17,0.27,,,,,,,,,,,,,,,,
synonymous_variant,FIGLA,SILENT,NM_001004311.3:p.His184His/c.552C>T,caC/caT,LOW,COSM3758328(1),0.797724,0.9067,rs7566541,,,,,,chr2,71012604,71012604,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His184His/c.552C>T|219|FIGLA|protein_coding|CODING|NM_001004311.3|3|1),"NHEK:CTCF,HeLa-S3:DNase1,HUVEC:H3K27me3,HeLa-S3:Max,CD4:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HSMM:DNase1,K562:Cmyc,HMEC:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.727,0.7032,0.5905,0.68,0.90,0.56,,,,,,,,,,,,,,,,
missense_variant,FIGLA,MISSENSE,NM_001004311.3:p.Ser141Thr/c.422G>C,aGt/aCt,MODERATE,COSM3758329(2),0.762979,0.9077,rs7566476,0.95(T),0.0(B),-1.67(N),-0.9418(T),,chr2,71012734,71012734,C,G,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser141Thr/c.422G>C|219|FIGLA|protein_coding|CODING|NM_001004311.3|3|1),"NHEK:CTCF,HeLa-S3:DNase1,HUVEC:H3K27me3,HeLa-S3:Max,CD4:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HSMM:DNase1,K562:Cmyc,HMEC:CTCF,NHEK:H3K27me3,K562:Rad21,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:Rad21,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.7127,0.6873,0.5626,0.63,0.81,0.54,,0.890934(N),1.000(P),-3.71(D),0.0000(T),0.023,-1.681187,4.12,3.24,-0.127000,0.701000,1.504000,0.009000,0.010000,0.310000,6.0393
missense_variant,CLEC4F,MISSENSE,NM_173535.2:p.Arg101Gln/c.302G>A,cGa/cAa,MODERATE,,0.330471,0.5248,rs2075221,1(T),"0.0,0.0(B,B)",-1.7(N),-1.0321(T),,chr2,71044211,71044211,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg101Gln/c.302G>A|557|CLEC4F|protein_coding|CODING|NM_001258027.1|4|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg101Gln/c.302G>A|589|CLEC4F|protein_coding|CODING|NM_173535.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4356,0.402,0.3817,0.28,0.10,0.37,,0.099533(N),1.000(P),"5.0,4.94(T,T)",0.0000(T),0.019,-0.508202,5.04,3.88,-0.483000,0.878000,0.690000,0.084000,0.026000,0.678000,7.7138
missense_variant,CD207,MISSENSE,NM_015717.4:p.Val278Ala/c.833T>C,gTg/gCg,MODERATE,,0.545327,0.6548,rs741326,0.5(T),0.0(B),-1.27(N),-0.9599(T),,chr2,71058835,71058835,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val278Ala/c.833T>C|328|CD207|protein_coding|CODING|NM_015717.4|5|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5849,0.4813,0.4722,0.44,0.47,0.42,,0.152259(N),1.000(P),2.33(T),0.0000(T),0.082,-1.205573,4.78,-9.57,-2.349000,-2.881000,-1.932000,0.000000,0.000000,0.000000,1.3582
start_lost,ATP6V1B1,MISSENSE,NM_001692.3:p.Met1?/c.2T>C,aTg/aCg,HIGH,COSM3933669(2),0.36881,0.3591,rs11681642,0(D),"0.405,0.599(B,P)",,-1.0754(T),ATP6V1B1:1.00(1);,chr2,71163086,71163086,T,C,het,start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|513|ATP6V1B1|protein_coding|CODING|NM_001692.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1",,RCV000037207.1,,0.3476,0.2939,0.4473,0.42,0.37,0.44,,0.000193(D),1.000(P),"-1.61,-1.61(D,D)",0.0000(T),0.381,2.251676,4.9,4.9,0.482000,1.834000,2.696000,0.238000,0.996000,1.000000,12.4999
synonymous_variant,ATP6V1B1,SILENT,NM_001692.3:p.Arg334Arg/c.1002C>T,cgC/cgT,LOW,COSM4133908(2),0.4375,0.6548,rs2072462,,,,,,chr2,71190384,71190384,C,T,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg334Arg/c.1002C>T|513|ATP6V1B1|protein_coding|CODING|NM_001692.3|10|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000037201.1,,0.5429,0.4928,0.4622,0.36,0.18,0.45,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD53,SILENT,NM_001115116.1:p.Thr384Thr/c.1152A>G,acA/acG,LOW,,0.673323,0.4782,rs3796099,,,,,,chr2,71211989,71211989,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr384Thr/c.1152A>G|530|ANKRD53|protein_coding|CODING|NM_001115116.1|6|1),3_prime_UTR_variant(MODIFIER||247|c.*247A>G|343|ANKRD53|protein_coding|CODING|NM_024933.3|7|1),downstream_gene_variant(MODIFIER||1079||196|TEX261|protein_coding|CODING|NM_144582.2||1)","NHEK:CTCF,CD4:DNase1,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,GM12878:ELF1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,GM12878:PolII,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.7076,0.6398,0.6312,0.68,0.83,0.62,,,,,,,,,,,,,,,,
synonymous_variant,NAGK,SILENT,NM_017567.4:p.Asp77Asp/c.231T>C,gaT/gaC,LOW,COSM3758340(2),0.143371,0.1438,rs2287328,,,,-1.0079(T),,chr2,71297695,71297695,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp77Asp/c.231T>C|390|NAGK|protein_coding|CODING|NM_017567.4|2|1),"NHEK:CTCF,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,NH-A:H3K36me3,NHEK:H3K4me1,K562:CTCF,HUVEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2,IMR90:H3K79me2,H1ESC:CTCF,GM06990:CTCF",,,,0.1605,0.1729,0.1431,0.15,0.14,0.16,,,0.000(P),,0.0002(T),.,1.337451,4.95,-3.11,-0.490000,-0.245000,0.766000,0.993000,0.996000,1.000000,6.0596
synonymous_variant,NAGK,SILENT,NM_017567.4:p.Leu331Leu/c.991C>T,Ctg/Ttg,LOW,,0.829872,0.999,rs6713,,,,-1.0226(T),,chr2,71305456,71305456,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu331Leu/c.991C>T|390|NAGK|protein_coding|CODING|NM_017567.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8446,0.6772,0.7048,0.74,0.82,0.70,,,1.000(P),,0.0000(T),.,-0.542225,4.82,-2.48,-0.360000,-1.033000,-0.421000,0.446000,0.000000,0.000000,0.6595
missense_variant,MCEE,MISSENSE,NM_032601.3:p.Arg104Leu/c.311G>T,cGt/cTt,MODERATE,COSM4001734(1),0.201478,0.2282,rs6748672,0.03(D),0.005(B),0.255(N),-1.0812(T),,chr2,71351403,71351403,C,A,het,missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg104Leu/c.311G>T|176|MCEE|protein_coding|CODING|NM_032601.3|2|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.228,0.1729,0.1342,0.19,0.23,0.17,,0.321551(N),1.000(P),"-0.1,-0.1,-0.1(T,T,T)",0.0000(T),0.056,1.241494,5.38,-4.61,-0.259000,-1.053000,0.803000,0.217000,0.000000,0.658000,6.8041
missense_variant,MCEE,MISSENSE,NM_032601.3:p.Ala76Val/c.227C>T,gCg/gTg,MODERATE,COSM1409252(1),0.182508,0.0446,rs11541017,0.47(T),0.003(B),0.325(N),-0.9718(T),,chr2,71351487,71351487,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala76Val/c.227C>T|176|MCEE|protein_coding|CODING|NM_032601.3|2|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.2474,0.2695,0.3956,0.27,0.08,0.37,,0.689564(N),1.000(P),0.01(T),0.0000(T),0.027,1.228432,5.39,-4.05,-0.127000,-1.116000,-0.150000,0.597000,0.000000,0.000000,7.0962
missense_variant,MPHOSPH10,MISSENSE,NM_005791.2:p.Arg115His/c.344G>A,cGt/cAt,MODERATE,COSM4001735(1),0.191094,0.2282,rs13010513,0.12(T),"0.092,0.083(B,B)",0.345(N),-0.9128(T),,chr2,71360282,71360282,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg115His/c.344G>A|681|MPHOSPH10|protein_coding|CODING|NM_005791.2|2|1),"H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K79me2",,,,0.227,0.1729,0.1342,0.18,0.20,0.17,,0.328668(N),0.123(P),2.89(T),0.0000(T),0.054,0.272902,4.61,2.81,-0.228000,0.696000,0.394000,0.632000,0.003000,0.137000,5.0267
synonymous_variant,PAIP2B,SILENT,NM_020459.1:p.Pro75Pro/c.225C>A,ccC/ccA,LOW,,0.957668,0.997,rs357777,,,,,,chr2,71417065,71417065,G,T,hom,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro75Pro/c.225C>A|123|PAIP2B|protein_coding|CODING|NM_020459.1|3|1),HUVEC:H3K27me3,,,,0.9724,0.9438,0.9076,0.92,0.95,0.91,,,,,,,,,,,,,,,,
synonymous_variant,PAIP2B,SILENT,NM_020459.1:p.Gln52Gln/c.156G>A,caG/caA,LOW,COSM3758341(2),0.336661,0.3343,rs357776,,,,,,chr2,71417134,71417134,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln52Gln/c.156G>A|123|PAIP2B|protein_coding|CODING|NM_020459.1|3|1),HUVEC:H3K27me3,,,,0.5317,0.2205,0.2326,0.28,0.32,0.26,,,,,,,,,,,,,,,,
missense_variant,ZNF638,MISSENSE,NM_001014972.2:p.Asn980Ser/c.2939A>G,aAc/aGc,MODERATE,COSM3758342(1),0.114816,0.1577,rs3732235,0.4(T),"0.039,0.053,0.037,0.039(B,B,B,B)",1.39(L),-1.0759(T),,chr2,71631109,71631109,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn980Ser/c.2939A>G|1978|ZNF638|protein_coding|CODING|NM_001014972.2|17|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn980Ser/c.2939A>G|1978|ZNF638|protein_coding|CODING|NM_001252612.1|17|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn980Ser/c.2939A>G|1957|ZNF638|protein_coding|CODING|NM_001252613.1|17|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn980Ser/c.2939A>G|1978|ZNF638|protein_coding|CODING|NM_014497.4|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1319,0.0576,0.0805,0.10,0.13,0.09,,0.183314(N),0.321(P),"0.54,1.53,1.53(T,T,T)",0.0013(T),0.035,0.889830,5.12,2.67,0.528000,0.262000,3.352000,0.985000,0.963000,0.971000,4.2706
synonymous_variant,ZNF638,SILENT,NM_001014972.2:p.Ile1006Ile/c.3018T>C,atT/atC,LOW,,0.41234,0.2927,rs3732233,,,,,,chr2,71633275,71633275,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1006Ile/c.3018T>C|1978|ZNF638|protein_coding|CODING|NM_001014972.2|19|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1006Ile/c.3018T>C|1978|ZNF638|protein_coding|CODING|NM_001252612.1|19|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1006Ile/c.3018T>C|1957|ZNF638|protein_coding|CODING|NM_001252613.1|19|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1006Ile/c.3018T>C|1978|ZNF638|protein_coding|CODING|NM_014497.4|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5654,0.6398,0.5517,0.46,0.23,0.58,,,,,,,,,,,,,,,,
synonymous_variant,ZNF638,SILENT,NM_001014972.2:p.Asn1044Asn/c.3132C>T,aaC/aaT,LOW,COSM4133909(1),0.42472,0.2927,rs386604605,,,,,,chr2,71633389,71633389,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1044Asn/c.3132C>T|1978|ZNF638|protein_coding|CODING|NM_001014972.2|19|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1044Asn/c.3132C>T|1978|ZNF638|protein_coding|CODING|NM_001252612.1|19|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1044Asn/c.3132C>T|1957|ZNF638|protein_coding|CODING|NM_001252613.1|19|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1044Asn/c.3132C>T|1978|ZNF638|protein_coding|CODING|NM_014497.4|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5654,0.6225,0.5527,0.47,0.27,0.58,,,,,,,,,,,,,,,,
missense_variant,ZNF638,MISSENSE,NM_001014972.2:p.Val1726Met/c.5176G>A,Gtg/Atg,MODERATE,COSM1180618(3),0.343251,0.7034,rs1804020,0.45(T),"0.0,0.0(B,B)",0(N),-0.9715(T),,chr2,71654175,71654175,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1726Met/c.5176G>A|1978|ZNF638|protein_coding|CODING|NM_001014972.2|24|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1726Met/c.5176G>A|1978|ZNF638|protein_coding|CODING|NM_001252612.1|24|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1726Met/c.5176G>A|1957|ZNF638|protein_coding|CODING|NM_001252613.1|24|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1726Met/c.5176G>A|1978|ZNF638|protein_coding|CODING|NM_014497.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3098,0.2435,0.2376,0.24,0.25,0.24,,0.000133(N),0.000(P),"1.53,1.53,1.94(T,T,T)",0.0000(T),0.059,-0.677433,5.85,3.35,-0.254000,1.048000,0.199000,0.957000,1.000000,0.993000,5.2117
synonymous_variant,ZNF638,SILENT,NM_001014972.2:p.Lys1817Lys/c.5451A>G,aaA/aaG,LOW,COSM3758345(1),0.118011,0.1617,rs60163900,,,,,,chr2,71654450,71654450,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1817Lys/c.5451A>G|1978|ZNF638|protein_coding|CODING|NM_001014972.2|24|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1817Lys/c.5451A>G|1978|ZNF638|protein_coding|CODING|NM_001252612.1|24|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1817Lys/c.5451A>G|1957|ZNF638|protein_coding|CODING|NM_001252613.1|24|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1817Lys/c.5451A>G|1978|ZNF638|protein_coding|CODING|NM_014497.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1299,0.0576,0.0795,0.11,0.14,0.09,,,,,,,,,,,,,,,,
missense_variant,ZNF638,MISSENSE,NM_001014972.2:p.Ala1912Val/c.5735C>T,gCg/gTg,MODERATE,COSM3758346(1),0.116214,0.1647,rs11542286,0.3(T),"0.003,0.001(B,B)",0.345(N),-1.0488(T),,chr2,71658541,71658541,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1912Val/c.5735C>T|1978|ZNF638|protein_coding|CODING|NM_001014972.2|26|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1912Val/c.5735C>T|1978|ZNF638|protein_coding|CODING|NM_001252612.1|26|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1912Val/c.5735C>T|1957|ZNF638|protein_coding|CODING|NM_001252613.1|26|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1912Val/c.5735C>T|1978|ZNF638|protein_coding|CODING|NM_014497.4|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1299,0.0576,0.0795,0.11,0.13,0.09,,0.163046(N),1.000(P),"1.47,1.47,1.87(T,T,T)",0.0005(T),0.006,1.621672,4.75,1.86,0.478000,0.263000,1.016000,0.983000,0.006000,0.521000,4.3683
synonymous_variant,DYSF,SILENT,NM_001130987.1:p.Asp627Asp/c.1881T>C,gaT/gaC,LOW,COSM4001738(1),0.575479,0.2222,rs2303596,,,,,,chr2,71780215,71780215,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp610Asp/c.1830T>C|2081|DYSF|protein_coding|CODING|NM_001130455.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp595Asp/c.1785T>C|2066|DYSF|protein_coding|CODING|NM_001130976.1|19|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp595Asp/c.1785T>C|2087|DYSF|protein_coding|CODING|NM_001130977.1|19|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp609Asp/c.1827T>C|2101|DYSF|protein_coding|CODING|NM_001130978.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp640Asp/c.1920T>C|2111|DYSF|protein_coding|CODING|NM_001130979.1|21|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp626Asp/c.1878T>C|2097|DYSF|protein_coding|CODING|NM_001130980.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp626Asp/c.1878T>C|2118|DYSF|protein_coding|CODING|NM_001130981.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp641Asp/c.1923T>C|2112|DYSF|protein_coding|CODING|NM_001130982.1|21|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp610Asp/c.1830T>C|2102|DYSF|protein_coding|CODING|NM_001130983.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp596Asp/c.1788T>C|2088|DYSF|protein_coding|CODING|NM_001130984.1|19|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp627Asp/c.1881T>C|2098|DYSF|protein_coding|CODING|NM_001130985.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp596Asp/c.1788T>C|2067|DYSF|protein_coding|CODING|NM_001130986.1|19|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp627Asp/c.1881T>C|2119|DYSF|protein_coding|CODING|NM_001130987.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp609Asp/c.1827T>C|2080|DYSF|protein_coding|CODING|NM_003494.3|20|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000080244.3,,0.4601,0.6412,0.7336,0.73,0.78,0.71,,,,,,,,,,,,,,,,
synonymous_variant,DYSF,SILENT,NM_001130987.1:p.Ser879Ser/c.2637A>T,tcA/tcT,LOW,COSM3766590(3),0.550519,0.1925,rs2288355,,,,,,chr2,71795152,71795152,A,T,hom,"synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser862Ser/c.2586A>T|2081|DYSF|protein_coding|CODING|NM_001130455.1|25|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser847Ser/c.2541A>T|2066|DYSF|protein_coding|CODING|NM_001130976.1|24|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser847Ser/c.2541A>T|2087|DYSF|protein_coding|CODING|NM_001130977.1|24|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser861Ser/c.2583A>T|2101|DYSF|protein_coding|CODING|NM_001130978.1|25|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser892Ser/c.2676A>T|2111|DYSF|protein_coding|CODING|NM_001130979.1|26|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser878Ser/c.2634A>T|2097|DYSF|protein_coding|CODING|NM_001130980.1|25|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser878Ser/c.2634A>T|2118|DYSF|protein_coding|CODING|NM_001130981.1|25|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser893Ser/c.2679A>T|2112|DYSF|protein_coding|CODING|NM_001130982.1|26|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser862Ser/c.2586A>T|2102|DYSF|protein_coding|CODING|NM_001130983.1|25|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser848Ser/c.2544A>T|2088|DYSF|protein_coding|CODING|NM_001130984.1|24|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser879Ser/c.2637A>T|2098|DYSF|protein_coding|CODING|NM_001130985.1|25|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser848Ser/c.2544A>T|2067|DYSF|protein_coding|CODING|NM_001130986.1|24|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser879Ser/c.2637A>T|2119|DYSF|protein_coding|CODING|NM_001130987.1|25|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser861Ser/c.2583A>T|2080|DYSF|protein_coding|CODING|NM_003494.3|25|1)","HUVEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,RCV000080254.3,,0.4376,0.5634,0.663,0.72,0.81,0.67,,,,,,,,,,,,,,,,
missense_variant,CYP26B1,MISSENSE,NM_019885.3:p.Leu264Ser/c.791T>C,tTg/tCg,MODERATE,,0.172524,0.0754,rs2241057,0.67(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-1.0477(T),,chr2,72361960,72361960,A,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu189Ser/c.566T>C|437|CYP26B1|protein_coding|CODING|NM_001277742.1|3|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu264Ser/c.791T>C|512|CYP26B1|protein_coding|CODING|NM_019885.3|4|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0951,0.2104,0.165,0.20,0.28,0.15,,0.009087(N),1.000(P),"-0.36,-0.36,-0.36(T,T,T)",0.0000(T),0.086,0.502526,5.11,3.32,-0.119000,0.295000,2.483000,0.957000,0.221000,0.059000,9.699
synonymous_variant,EXOC6B,SILENT,NM_015189.1:p.Val557Val/c.1671T>C,gtT/gtC,LOW,COSM3758354(1),0.347644,0.0069,rs653220,,,,,,chr2,72707874,72707874,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val557Val/c.1671T>C|811|EXOC6B|protein_coding|CODING|NM_015189.1|17|1),"CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.091,0.2118,0.2346,0.41,0.80,0.23,,,,,,,,,,,,,,,,
synonymous_variant,EXOC6B,SILENT,NM_015189.1:p.Gln123Gln/c.369A>G,caA/caG,LOW,,0.20008,0.001,rs61736520,,,,,,chr2,72958333,72958333,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln123Gln/c.369A>G|811|EXOC6B|protein_coding|CODING|NM_015189.1|4|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0215,0.0994,0.1213,0.22,0.47,0.11,,,,,,,,,,,,,,,,
synonymous_variant,RAB11FIP5,SILENT,NM_015470.2:p.Cys66Cys/c.198C>T,tgC/tgT,LOW,,0.520567,0.4296,rs1864488,,,,,,chr2,73339708,73339708,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys66Cys/c.198C>T|653|RAB11FIP5|protein_coding|CODING|NM_015470.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.6851,0.6671,0.7137,0.57,0.33,0.69,,,,,,,,,,,,,,,,
synonymous_variant,NOTO,SILENT,NM_001134462.1:p.Thr152Thr/c.456T>C,acT/acC,LOW,COSM3991431(1),0.0920527,0.0149,rs17008862,,,,,,chr2,73435601,73435601,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr152Thr/c.456T>C|251|NOTO|protein_coding|CODING|NM_001134462.1|2|1),"HepG2:H3K4me2,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1043,0.0259,0.0686,0.09,0.16,0.07,,,,,,,,,,,,,,,,
synonymous_variant,FBXO41,SILENT,NM_001080410.2:p.His700His/c.2100T>C,caT/caC,LOW,COSM3758356(1),0.52496,0.3849,rs34363861,,,,,,chr2,73490412,73490412,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His700His/c.2100T>C|875|FBXO41|protein_coding|CODING|NM_001080410.2|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3415,0.4294,0.4821,0.58,0.78,0.48,,,,,,,,,,,,,,,,
missense_variant,FBXO41,MISSENSE,NM_001080410.2:p.Ser454Thr/c.1360T>A,Tcc/Acc,MODERATE,COSM3758362(1),0.330272,0.4752,rs526106,0.85(T),,0.345(N),-0.9386(T),,chr2,73492614,73492614,A,T,het,missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser454Thr/c.1360T>A|875|FBXO41|protein_coding|CODING|NM_001080410.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3712,0.2421,0.2674,0.26,0.27,0.26,,0.260595(N),0.998(P),,0.0000(T),0.042,2.199095,5.52,-0.818,0.454000,-0.113000,0.752000,0.962000,0.946000,0.998000,0.8479
missense_variant,ALMS1,MISSENSE,NM_015120.4:p.Ser2574Asn/c.7721G>A,aGt/aAt,MODERATE,,0.126797,0.2014,rs3820700,0.14(T),"0.801,0.801,0.801(P,P,P)",1.445(L),-0.9657(T),,chr2,73716810,73716810,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2574Asn/c.7721G>A|4167|ALMS1|protein_coding|CODING|NM_015120.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1554,0.0548,0.1262,0.12,0.10,0.13,,0.106868(N),0.000(P),"3.04,3.04(T,T)",0.0000(T),0.309,3.303631,4.45,4.45,0.650000,2.748000,4.331000,0.998000,1.000000,1.000000,12.9143
missense_variant,ALMS1,MISSENSE,NM_015120.4:p.Asp2672His/c.8014G>C,Gat/Cat,MODERATE,,0.135982,0.2034,rs2017116,1(T),"0.0,0.0,0.0(B,B,B)",-1.445(N),-0.9285(T),,chr2,73717103,73717103,G,C,hom,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp2672His/c.8014G>C|4167|ALMS1|protein_coding|CODING|NM_015120.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1564,0.0663,0.1262,0.13,0.12,0.13,,0.081226(N),1.000(P),"3.42,3.42(T,T)",0.0000(T),0.299,-1.711987,4.45,2.64,-0.127000,0.383000,0.444000,0.916000,0.049000,0.002000,6.5992
synonymous_variant,DUSP11,SILENT,NM_003584.2:p.Val11Val/c.33A>C,gtA/gtC,LOW,,,,,,,,,,chr2,74007210,74007210,T,G,het,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val11Val/c.33A>C|377|DUSP11|protein_coding|CODING|NM_003584.2|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,HUVEC:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,K562:Yy1,HepG2:FOXA2,CD4:CTCF,CD4:H4K5ac,HepG2:CTCF,GM12878:Rad21,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:FOXA1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,GM06990:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,DGUOK,SILENT,NM_080916.2:p.Thr53Thr/c.159G>A,acG/acA,LOW,,0.00698882,0.001,rs62641680,,,,,,chr2,74166053,74166053,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr53Thr/c.159G>A|277|DGUOK|protein_coding|CODING|NM_080916.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr53Thr/c.159G>A|189|DGUOK|protein_coding|CODING|NM_080918.2|2|1)","NHEK:H3K27ac,H1ESC:H3K36me3,HSMM:H3K27ac,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H4K20me1,HMEC:H3K27ac,NH-A:DNase1,HSMM:DNase1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0061,0.0029,0.0249,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,TET3,MISSENSE,NM_001287491.1:p.Val1295Ile/c.3883G>A,Gtc/Atc,MODERATE,,0.000199681,0,rs199849765,0.26(T),0.01(B),1.265(L),-1.0625(T),,chr2,74327798,74327798,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1295Ile/c.3883G>A|1795|TET3|protein_coding|CODING|NM_001287491.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.003611(N),0.656(D),2.7(T),0.0287(T),0.136,2.754725,5.44,4.56,-0.140000,1.432000,1.804000,0.947000,0.993000,0.978000,10.4907
synonymous_variant,SLC4A5,SILENT,NM_021196.3:p.Gly729Gly/c.2187C>T,ggC/ggT,LOW,COSM1409512(2),0.226637,0.1954,rs4853018,,,,,,chr2,74466594,74466594,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly729Gly/c.2187C>T|1137|SLC4A5|protein_coding|CODING|NM_021196.3|16|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly729Gly/c.2187C>T|1121|SLC4A5|protein_coding|CODING|NM_133478.2|21|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1667,0.2291,0.4304,0.35,0.20,0.42,,,,,,,,,,,,,,,,
synonymous_variant,C2orf81,SILENT,NM_001145054.1:p.Pro533Pro/c.1599C>G,ccC/ccG,LOW,COSM3758367(1),0.545128,0.8244,rs2240444,,,,,,chr2,74641624,74641624,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro533Pro/c.1599C>G|588|C2orf81|protein_coding|CODING|NM_001145054.1|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3344,0.3271,0.1412,0.33,0.80,0.13,,,,,,,,,,,,,,,,
synonymous_variant,WBP1,SILENT,NM_012477.3:p.Pro184Pro/c.552T>C,ccT/ccC,LOW,,0.524161,0.8214,rs8469,,,,,,chr2,74687550,74687550,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro184Pro/c.552T>C|269|WBP1|protein_coding|CODING|NM_012477.3|4|1),downstream_gene_variant(MODIFIER||634||731|MOGS|protein_coding|CODING|NM_001146158.1||1),downstream_gene_variant(MODIFIER||634||837|MOGS|protein_coding|CODING|NM_006302.2||1),non_coding_exon_variant(MODIFIER|||n.1644T>C||INO80B-WBP1||NON_CODING|NR_037849.1|8|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.3156,0.1581,0.32,0.70,0.13,,,,,,,,,,,,,,,,
missense_variant,MOGS,MISSENSE,NM_006302.2:p.Pro293Ser/c.877C>T,Ccc/Tcc,MODERATE,COSM3758368(1),0.538738,0.8214,rs2268416,0.95(T),0.0(B),-0.975(N),-0.9848(T),,chr2,74690039,74690039,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro187Ser/c.559C>T|731|MOGS|protein_coding|CODING|NM_001146158.1|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro293Ser/c.877C>T|837|MOGS|protein_coding|CODING|NM_006302.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081382.1,,0.3405,0.3242,0.159,0.33,0.73,0.14,,0.062440(N),0.000(P),"1.28,1.28,1.28(T,T,T)",0.0000(T),0.118,-1.939376,4.85,0.945,-0.254000,-0.235000,0.754000,0.518000,0.094000,0.263000,1.0778
missense_variant,MOGS,MISSENSE,NM_006302.2:p.Asp239Asn/c.715G>A,Gac/Aac,MODERATE,COSM3758369(1),0.51877,0.8214,rs1063588,0.42(T),0.23(B),0.525(N),-1.0766(T),,chr2,74690378,74690378,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp133Asn/c.397G>A|731|MOGS|protein_coding|CODING|NM_001146158.1|4|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp239Asn/c.715G>A|837|MOGS|protein_coding|CODING|NM_006302.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081381.1,,0.3323,0.3127,0.1581,0.31,0.67,0.14,,0.000925(D),0.000(P),"1.23,1.23,1.23,1.23(T,T,T,T)",0.0000(T),0.068,1.983034,4.85,4.85,0.655000,2.504000,0.994000,0.950000,1.000000,0.998000,13.3472
missense_variant,MRPL53,MISSENSE,NM_053050.4:p.Thr32Asn/c.95C>A,aCc/aAc,MODERATE,,0.00778754,0,rs78834087,0.3(T),0.096(B),-0.345(N),-1.0890(T),,chr2,74699595,74699595,G,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr32Asn/c.95C>A|112|MRPL53|protein_coding|CODING|NM_053050.4|2|1),splice_region_variant(LOW|||c.95C>A|112|MRPL53|protein_coding|CODING|NM_053050.4|2|1),downstream_gene_variant(MODIFIER||364||743|CCDC142|protein_coding|CODING|NM_032779.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,K562:Tr4,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,IMR90:H4K91ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:PU1,GM12878:Tr4,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.001,0.0173,0.0258,0.01,0.00,0.02,,0.000029(D),1.000(D),0.91(T),0.0229(T),0.044,0.533193,5.61,3.63,0.655000,1.367000,0.674000,0.033000,1.000000,1.000000,7.8903
missense_variant,MRPL53,MISSENSE,NM_053050.4:p.Ala4Ser/c.10G>T,Gcc/Tcc,MODERATE,COSM3758370(2),0.516773,0.8214,rs1047911,0.82(T),0.0(B),0.345(N),-0.9641(T),,chr2,74699778,74699778,C,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala4Ser/c.10G>T|112|MRPL53|protein_coding|CODING|NM_053050.4|1|1),downstream_gene_variant(MODIFIER||181||743|CCDC142|protein_coding|CODING|NM_032779.3||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,K562:Tr4,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:ETS1,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:SIX5,HepG2:H3K27ac,HeLa-S3:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:FOSL2,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,CD4:p300,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,GM12878:PU1,GM12878:Tr4,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.3272,0.3098,0.1581,0.33,0.71,0.14,,0.076882(N),1.000(P),"0.76,0.39(T,T)",0.0000(T),0.058,0.188132,5.09,2.26,-0.137000,0.280000,0.255000,0.002000,0.169000,0.793000,3.6041
missense_variant,CCDC142,MISSENSE,NM_032779.3:p.Pro690Leu/c.2069C>T,cCa/cTa,MODERATE,,0.00778754,0,rs116238920,0.74(T),"0.025,0.007(B,B)",1.79(L),-1.0036(T),,chr2,74701836,74701836,G,A,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro690Leu/c.2069C>T|743|CCDC142|protein_coding|CODING|NM_032779.3|9|1),upstream_gene_variant(MODIFIER||1894||112|MRPL53|protein_coding|CODING|NM_053050.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0173,0.0258,0.01,0.00,0.02,,0.502792(N),1.000(N),"0.88,0.88(T,T)",0.0408(T),0.033,-1.323679,5.01,0.923,-0.761000,0.310000,0.270000,0.010000,0.001000,0.000000,3.8732
missense_variant,TTC31,MISSENSE,NM_022492.4:p.Ala28Val/c.83C>T,gCa/gTa,MODERATE,COSM3758372(2),0.547324,0.8224,rs6707475,1(T),0.0(B),-1.61(N),-1.0007(T),,chr2,74710491,74710491,C,T,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala28Val/c.83C>T|519|TTC31|protein_coding|CODING|NM_022492.4|2|1),upstream_gene_variant(MODIFIER||134||743|CCDC142|protein_coding|CODING|NM_032779.3||1),non_coding_exon_variant(MODIFIER|||n.106C>T||TTC31||CODING|NR_027749.1|2|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,HMEC:CTCF,HUVEC:H3K4me2,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:Tr4,HepG2:Yy1,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,GM06990:CTCF",,,,0.3344,0.3256,0.159,0.34,0.76,0.14,,0.048891(N),0.000(P),"1.16,1.16(T,T)",0.0000(T),0.058,2.534928,4.27,0.28,-0.254000,-0.006000,-0.054000,0.900000,0.771000,0.061000,3.1691
synonymous_variant,LBX2,SILENT,NM_001282430.1:p.Glu169Glu/c.507A>G,gaA/gaG,LOW,,0.971246,1,rs6546908,,,,,,chr2,74725144,74725144,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu165Glu/c.495A>G|194|LBX2|protein_coding|CODING|NM_001009812.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu169Glu/c.507A>G|198|LBX2|protein_coding|CODING|NM_001282430.1|2|1)","HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.9703,0.9553,0.9254,0.94,0.99,0.92,,,,,,,,,,,,,,,,
missense_variant,LBX2,MISSENSE,NM_001282430.1:p.Ser158Phe/c.473C>T,tCc/tTc,MODERATE,COSM3933685(1),0.333067,0.8204,rs17009998,0.02(D),"0.024,0.002(B,B)",0.895(L),-0.9345(T),,chr2,74725178,74725178,G,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser154Phe/c.461C>T|194|LBX2|protein_coding|CODING|NM_001009812.1|2|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser158Phe/c.473C>T|198|LBX2|protein_coding|CODING|NM_001282430.1|2|1)","HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.3282,0.2579,0.1551,0.14,0.15,0.13,,0.367991(N),0.000(P),"-2.82,-2.94(D,D)",0.0000(T),0.029,2.759678,4.76,2.95,0.561000,0.605000,0.297000,0.034000,0.178000,0.000000,7.3598
synonymous_variant,DQX1,SILENT,NM_133637.2:p.Leu614Leu/c.1842T>A,ctT/ctA,LOW,COSM3758374(1),0.523163,0.8185,rs6546909,,,,,,chr2,74746322,74746322,A,T,het,synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu614Leu/c.1842T>A|717|DQX1|protein_coding|CODING|NM_133637.2|11|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3476,0.3213,0.16,0.34,0.69,0.15,,,,,,,,,,,,,,,,
synonymous_variant,SEMA4F,SILENT,NM_004263.4:p.Gly185Gly/c.555G>T,ggG/ggT,LOW,,0.0700879,0.0933,rs34617503,,,,,,chr2,74900588,74900588,G,T,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly152Gly/c.456G>T|737|SEMA4F|protein_coding|CODING|NM_001271662.1|5|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly185Gly/c.555G>T|770|SEMA4F|protein_coding|CODING|NM_004263.4|6|1),intron_variant(MODIFIER|||c.358-1037G>T|615|SEMA4F|protein_coding|CODING|NM_001271661.1|3|1),non_coding_exon_variant(MODIFIER|||n.610G>T||SEMA4F||CODING|NR_073398.1|5|1),non_coding_exon_variant(MODIFIER|||n.511G>T||SEMA4F||CODING|NR_073399.1|4|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0798,0.0591,0.0895,0.08,0.05,0.09,,,,,,,,,,,,,,,,
synonymous_variant,HK2,SILENT,NM_000189.4:p.Asn692Asn/c.2076C>T,aaC/aaT,LOW,COSM4001752(1),0.511581,0.4077,rs2229626,,,,,,chr2,75113657,75113657,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn692Asn/c.2076C>T|917|HK2|protein_coding|CODING|NM_000189.4|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4673,0.3458,0.4662,0.52,0.69,0.43,,,,,,,,,,,,,,,,
synonymous_variant,HK2,SILENT,NM_000189.4:p.Pro736Pro/c.2208C>G,ccC/ccG,LOW,,0.517572,0.4554,rs2229627,,,,,,chr2,75113789,75113789,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro736Pro/c.2208C>G|917|HK2|protein_coding|CODING|NM_000189.4|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6288,0.4928,0.6203,0.55,0.45,0.60,,,,,,,,,,,,,,,,
synonymous_variant,HK2,SILENT,NM_000189.4:p.Leu766Leu/c.2298A>G,ctA/ctG,LOW,COSM148879(2),0.524161,0.4821,rs10194657,,,,,,chr2,75115108,75115108,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu766Leu/c.2298A>G|917|HK2|protein_coding|CODING|NM_000189.4|16|1),"NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,NHEK:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K4me2,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,IMR90:H3K18ac,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.638,0.4654,0.6282,0.57,0.46,0.63,,,,,,,,,,,,,,,,
missense_variant,POLE4,MISSENSE,NM_019896.2:p.Gly17Val/c.50G>T,gGa/gTa,MODERATE,COSM3723134(3),0.341653,0.4206,rs12366,0.09(T),0.301(B),0.205(N),-0.9193(T),,chr2,75185856,75185856,G,T,hom,missense_variant(MODERATE|MISSENSE|gGa/gTa|p.Gly17Val/c.50G>T|117|POLE4|protein_coding|CODING|NM_019896.2|1|1),"GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,HepG2:p300,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,K562:E2F4,HeLa-S3:E2F6",,,,0.2607,0.3545,0.3917,0.33,0.28,0.35,,0.000033(D),0.000(P),1.51(T),0.0000(T),0.24,1.756056,5.41,3.58,0.591000,0.631000,2.026000,0.697000,0.787000,0.978000,7.1936
synonymous_variant,EVA1A,SILENT,NM_001135032.1:p.Leu53Leu/c.157C>T,Ctg/Ttg,LOW,,0.230631,0.0298,rs6741778,,,,,,chr2,75720664,75720664,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu53Leu/c.157C>T|152|EVA1A|protein_coding|CODING|NM_001135032.1|4|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu53Leu/c.157C>T|152|EVA1A|protein_coding|CODING|NM_032181.2|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2045,0.1599,0.2078,0.28,0.41,0.21,,,,,,,,,,,,,,,,
synonymous_variant,REG3G,SILENT,NM_001008387.2:p.Tyr99Tyr/c.297T>C,taT/taC,LOW,,0.859625,0.9117,rs452267,,,,,,chr2,79254261,79254261,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr99Tyr/c.297T>C|175|REG3G|protein_coding|CODING|NM_001008387.2|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr99Tyr/c.297T>C|175|REG3G|protein_coding|CODING|NM_198448.3|4|1),intron_variant(MODIFIER|||c.195+304T>C|129|REG3G|protein_coding|CODING|NM_001270040.1|3|1)",HepG2:H3K27me3,,,,0.863,0.902,0.8042,0.82,0.83,0.81,,,,,,,,,,,,,,,,
synonymous_variant,REG3A,SILENT,NM_002580.2:p.Thr62Thr/c.186A>G,acA/acG,LOW,COSM4133951(1),,,rs76653007,,,,,,chr2,79385786,79385786,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr62Thr/c.186A>G|175|REG3A|protein_coding|CODING|NM_002580.2|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr62Thr/c.186A>G|175|REG3A|protein_coding|CODING|NM_138937.2|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr62Thr/c.186A>G|175|REG3A|protein_coding|CODING|NM_138938.2|2|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,REG3A,MISSENSE,NM_002580.2:p.Thr62Ile/c.185C>T,aCa/aTa,MODERATE,COSM3758377(2),,,rs77686105,0.39(T),0.002(B),0.52(N),-1.0391(T),,chr2,79385787,79385787,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr62Ile/c.185C>T|175|REG3A|protein_coding|CODING|NM_002580.2|3|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr62Ile/c.185C>T|175|REG3A|protein_coding|CODING|NM_138937.2|3|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr62Ile/c.185C>T|175|REG3A|protein_coding|CODING|NM_138938.2|2|1)",,,,,,,,,,,,0.108266(N),1.000(N),"2.12,2.12,2.12(T,T,T)",0.0274(T),0.129,-0.025360,4.02,-4.6,-1.155000,-0.910000,-1.065000,0.003000,0.000000,0.000000,3.4681
missense_variant,DNAH6,MISSENSE,NM_001370.1:p.Val141Met/c.421G>A,Gtg/Atg,MODERATE,,0.944688,0.997,rs4832089,0.37(T),0.002(B),0.345(N),-1.0529(T),,chr2,84756049,84756049,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val141Met/c.421G>A|4158|DNAH6|protein_coding|CODING|NM_001370.1|4|1),IMR90:H3K27me3,,,,0.954,0.9669,0.9443,0.92,0.87,0.95,,,1.000(P),"1.74,1.87,1.74(T,T,T)",0.0000(T),0.011,1.162493,5.08,-5.79,-0.350000,-1.332000,-1.333000,0.081000,0.000000,0.000000,5.7284
synonymous_variant,DNAH6,SILENT,NM_001370.1:p.Leu262Leu/c.786G>A,ctG/ctA,LOW,,0.929513,0.997,rs1037863,,,,,,chr2,84771480,84771480,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu262Leu/c.786G>A|4158|DNAH6|protein_coding|CODING|NM_001370.1|5|1),,,,,0.954,0.9625,0.9443,0.91,0.83,0.95,,,,,,,,,,,,,,,,
synonymous_variant,DNAH6,SILENT,NM_001370.1:p.Ser291Ser/c.873C>T,tcC/tcT,LOW,,0.816693,0.9861,rs1542477,,,,,,chr2,84771567,84771567,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser291Ser/c.873C>T|4158|DNAH6|protein_coding|CODING|NM_001370.1|5|1),,,,,0.8967,0.9121,0.9364,0.81,0.53,0.93,,,,,,,,,,,,,,,,
synonymous_variant,DNAH6,SILENT,NM_001370.1:p.Ala606Ala/c.1818C>A,gcC/gcA,LOW,,0.929712,0.997,rs11891970,,,,,,chr2,84800605,84800605,C,A,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala606Ala/c.1818C>A|4158|DNAH6|protein_coding|CODING|NM_001370.1|12|1),,,,,0.954,0.9625,0.9453,0.91,0.84,0.94,,,,,,,,,,,,,,,,
synonymous_variant,DNAH6,SILENT,NM_001370.1:p.Val2100Val/c.6300G>A,gtG/gtA,LOW,,0.0625,0.004,rs17708884,,,,,,chr2,84896628,84896628,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val2100Val/c.6300G>A|4158|DNAH6|protein_coding|CODING|NM_001370.1|38|1),IMR90:H3K27me3,,,,0.0746,0.1282,0.1312,0.11,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,DNAH6,SILENT,NM_001370.1:p.Leu2124Leu/c.6372A>G,ctA/ctG,LOW,,0.982228,1,rs1881095,,,,,,chr2,84897517,84897517,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu2124Leu/c.6372A>G|4158|DNAH6|protein_coding|CODING|NM_001370.1|39|1),IMR90:H3K27me3,,,,0.9877,0.9755,0.9453,0.96,0.99,0.95,,,,,,,,,,,,,,,,
missense_variant,TCF7L1,MISSENSE,NM_031283.2:p.Pro253Ser/c.757C>T,Cca/Tca,MODERATE,,0.0081869,0.001,rs41288837,0.03(D),0.417(B),1.465(L),0.4279(D),,chr2,85531116,85531116,C,T,het,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro253Ser/c.757C>T|588|TCF7L1|protein_coding|CODING|NM_031283.2|6|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0031,0.0159,0.0239,0.02,0.01,0.03,,0.000003(D),0.988(D),-5.05(D),0.7552(D),0.416,3.536618,4.5,3.62,-0.136000,1.094000,5.852000,0.941000,1.000000,1.000000,10.235
stop_lost,TGOLN2,MISSENSE,NM_001206840.1:p.Ter455Glnext*?/c.1363T>C,Taa/Caa,HIGH,,0.778954,0.9563,rs4240199,0.15(T),,,-1.0425(T),,chr2,85549868,85549868,A,G,het,"stop_lost(HIGH|MISSENSE|Taa/Caa|p.Ter455Glnext*?/c.1363T>C|480|TGOLN2|protein_coding|CODING|NM_001206840.1|4|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu441Pro/c.1322T>C|453|TGOLN2|protein_coding|CODING|NM_001206841.1|4|1),intron_variant(MODIFIER|||c.1135-4T>C|379|TGOLN2|protein_coding|CODING|NM_001206844.1|4|1),intron_variant(MODIFIER|||c.1309-4T>C|437|TGOLN2|protein_coding|CODING|NM_006464.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7229,0.8026,0.6004,0.66,0.79,0.61,,,0.000(P),2.42(T),0.0000(T),.,1.019382,4.23,-3.58,-0.699000,-1.204000,-2.373000,0.002000,0.000000,0.000000,4.1813
synonymous_variant,TGOLN2,SILENT,NM_001206840.1:p.Gly357Gly/c.1071G>A,ggG/ggA,LOW,,0.658746,0.875,rs1044973,,,,,,chr2,85553784,85553784,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly299Gly/c.897G>A|379|TGOLN2|protein_coding|CODING|NM_001206844.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly357Gly/c.1071G>A|480|TGOLN2|protein_coding|CODING|NM_001206840.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly357Gly/c.1071G>A|453|TGOLN2|protein_coding|CODING|NM_001206841.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly357Gly/c.1071G>A|437|TGOLN2|protein_coding|CODING|NM_006464.3|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1",,,,0.6636,0.7205,0.5348,0.55,0.58,0.54,,,,,,,,,,,,,,,,
missense_variant,ELMOD3,MISSENSE,NM_032213.4:p.Arg66Cys/c.196C>T,Cgt/Tgt,MODERATE,,0.0634984,0,rs7564372,0.04(D),"0.172,0.132(B,B)",0.69(N),-1.0352(T),,chr2,85590286,85590286,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg66Cys/c.196C>T|381|ELMOD3|protein_coding|CODING|NM_001135021.1|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg66Cys/c.196C>T|381|ELMOD3|protein_coding|CODING|NM_001135022.1|6|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg66Cys/c.196C>T|381|ELMOD3|protein_coding|CODING|NM_001135023.1|5|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg66Cys/c.196C>T|391|ELMOD3|protein_coding|CODING|NM_032213.4|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0389,0.0348,0.07,0.16,0.03,,0.117802(N),1.000(P),"1.46,1.47,1.47,1.47,1.47,1.46,1.42,1.49(T,T,T,T,T,T,T,T)",0.0001(T),0.325,3.049921,5.95,0.935,-0.211000,0.088000,0.078000,0.651000,0.002000,0.003000,7.3877
missense_variant,CAPG,MISSENSE,NM_001256139.1:p.His335Arg/c.1004A>G,cAt/cGt,MODERATE,,0.585064,0.504,rs6886,0.33(T),"0.0,0.0(B,B)",-0.31(N),-1.0070(T),,chr2,85622059,85622059,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His335Arg/c.1004A>G|348|CAPG|protein_coding|CODING|NM_001256139.1|10|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His320Arg/c.959A>G|333|CAPG|protein_coding|CODING|NM_001256140.1|10|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His335Arg/c.1004A>G|348|CAPG|protein_coding|CODING|NM_001747.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5082,0.3977,0.6551,0.67,0.73,0.64,,0.000809(N),1.000(P),"0.64,0.64,0.64,0.64,0.64(T,T,T,T,T)",0.0000(T),0.066,1.618331,5.69,3.9,-0.733000,0.368000,2.004000,0.961000,0.876000,0.947000,8.0924
synonymous_variant,CAPG,SILENT,NM_001256139.1:p.Pro271Pro/c.813A>C,ccA/ccC,LOW,COSM3758392(1),0.251597,0.121,rs6885,,,,,,chr2,85625222,85625222,T,G,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro271Pro/c.813A>C|348|CAPG|protein_coding|CODING|NM_001256139.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro256Pro/c.768A>C|333|CAPG|protein_coding|CODING|NM_001256140.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro271Pro/c.813A>C|348|CAPG|protein_coding|CODING|NM_001747.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.147,0.2336,0.29,0.37,0.24,,,,,,,,,,,,,,,,
synonymous_variant,GGCX,SILENT,NM_000821.5:p.Gly279Gly/c.837A>C,ggA/ggC,LOW,,0.996605,1,rs1254896,,,,,,chr2,85781318,85781318,T,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly279Gly/c.837A>C|758|GGCX|protein_coding|CODING|NM_000821.5|7|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly222Gly/c.666A>C|701|GGCX|protein_coding|CODING|NM_001142269.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9928,1,0.9901,0.99,1.00,0.98,,,,,,,,,,,,,,,,
missense_variant,SFTPB,MISSENSE,NM_000542.3:p.Thr143Ile/c.428C>T,aCt/aTt,MODERATE,COSM4133963(1),0.519968,0.2639,rs1130866,0.9(T),"0.001,0.0(B,B)",-1.795(N),-0.9493(T),,chr2,85893741,85893741,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr143Ile/c.428C>T|393|SFTPB|protein_coding|CODING|NM_000542.3|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr143Ile/c.428C>T|393|SFTPB|protein_coding|CODING|NM_198843.2|5|1),splice_region_variant(LOW|||c.428C>T|393|SFTPB|protein_coding|CODING|NM_000542.3|5|1),splice_region_variant(LOW|||c.428C>T|393|SFTPB|protein_coding|CODING|NM_198843.2|5|1)",HepG2:H3K27me3,,,,0.455,0.4193,0.5388,0.60,0.74,0.52,,0.149225(N),0.151(P),"-0.69,-0.69,-0.69,-0.69(T,T,T,T)",0.0000(T),0.254,-1.963919,4.49,3.33,-0.598000,0.561000,3.237000,0.014000,0.953000,0.970000,6.9896
synonymous_variant,POLR1A,SILENT,NM_015425.3:p.Gly1408Gly/c.4224G>A,ggG/ggA,LOW,COSM148889(5),0.576877,0.3611,rs2276626,,,,,,chr2,86259443,86259443,C,T,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1408Gly/c.4224G>A|1720|POLR1A|protein_coding|CODING|NM_015425.3|29|1),"H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5174,0.4712,0.5934,0.70,0.81,0.64,,,,,,,,,,,,,,,,
synonymous_variant,POLR1A,SILENT,NM_015425.3:p.Thr226Thr/c.678G>A,acG/acA,LOW,COSM4133965(1),0.657947,0.6567,rs2288120,,,,,,chr2,86315741,86315741,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr226Thr/c.678G>A|1720|POLR1A|protein_coding|CODING|NM_015425.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.82,0.8228,0.84,0.71,0.42,0.85,,,,,,,,,,,,,,,,
missense_variant,POLR1A,MISSENSE,NM_015425.3:p.Pro150Ala/c.448C>G,Ccc/Gcc,MODERATE,,0.754992,0.753,rs4832242,0.94(T),"0.01,0.002(B,B)",0.19(N),-0.9939(T),,chr2,86317037,86317037,G,C,hom,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro150Ala/c.448C>G|1720|POLR1A|protein_coding|CODING|NM_015425.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9029,0.8473,0.8698,0.79,0.59,0.88,,0.052234(N),1.000(P),"2.1,2.1(T,T)",0.0000(T),0.037,-0.396452,5.2,-5.44,-0.812000,-1.809000,-1.423000,0.135000,0.013000,0.000000,11.2608
synonymous_variant,IMMT,SILENT,NM_006839.2:p.Ala595Ala/c.1785A>G,gcA/gcG,LOW,COSM3758399(1),0.260783,0.1488,rs8244,,,,-1.0348(T),,chr2,86371883,86371883,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala594Ala/c.1782A>G|757|IMMT|protein_coding|CODING|NM_001100169.1|15|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala584Ala/c.1752A>G|747|IMMT|protein_coding|CODING|NM_001100170.1|15|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala595Ala/c.1785A>G|758|IMMT|protein_coding|CODING|NM_006839.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3507,0.3703,0.4761,0.38,0.11,0.50,,,0.000(P),,0.0000(T),.,-0.954617,5.27,-10.5,-0.320000,-3.336000,-5.190000,0.292000,0.002000,0.000000,5.2624
missense_variant,MRPL35,MISSENSE,NM_016622.3:p.Pro19Ser/c.55C>T,Ccc/Tcc,MODERATE,COSM148890(3),0.244609,0.121,rs10901,0.33(T),0.033(B),2.295(M),-0.9413(T),,chr2,86433240,86433240,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro19Ser/c.55C>T|188|MRPL35|protein_coding|CODING|NM_016622.3|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro19Ser/c.55C>T|170|MRPL35|protein_coding|CODING|NM_145644.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3671,0.2781,0.4751,0.37,0.11,0.51,,0.000001(N),0.038(P),"2.24,2.65,2.23(T,T,T)",0.0000(T),0.233,2.809597,5.62,4.74,0.650000,1.527000,2.399000,0.922000,0.987000,0.330000,10.6449
synonymous_variant,REEP1,SILENT,NM_001164730.1:p.Thr102Thr/c.306G>A,acG/acA,LOW,COSM3758400(1),0.428714,0.5962,rs2276625,,,,,,chr2,86481835,86481835,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr102Thr/c.306G>A|208|REEP1|protein_coding|CODING|NM_001164730.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr68Thr/c.204G>A|174|REEP1|protein_coding|CODING|NM_001164731.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr95Thr/c.285G>A|201|REEP1|protein_coding|CODING|NM_022912.2|4|1),intron_variant(MODIFIER|||c.182+9253G>A|143|REEP1|protein_coding|CODING|NM_001164732.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000118136.2|RCV000127760.1,,0.4335,0.6037,0.4602,0.37,0.23,0.44,,,,,,,,,,,,,,,,
missense_variant,KDM3A,MISSENSE,NM_001146688.1:p.Ile212Val/c.634A>G,Ata/Gta,MODERATE,,0.804912,0.9425,rs2030259,0.86(T),"0.0,0.0(B,B)",-1.845(N),-0.9748(T),,chr2,86683642,86683642,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile212Val/c.634A>G|1321|KDM3A|protein_coding|CODING|NM_001146688.1|6|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile212Val/c.634A>G|1321|KDM3A|protein_coding|CODING|NM_018433.5|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.7608,0.7594,0.80,0.90,0.75,,0.012307(N),1.000(P),"0.48,0.48,0.48,0.5(T,T,T,T)",0.0000(T),0.049,0.473741,5.33,3.51,-0.215000,0.246000,1.846000,0.955000,0.967000,1.000000,7.6636
synonymous_variant,KDM3A,SILENT,NM_001146688.1:p.Ala306Ala/c.918G>A,gcG/gcA,LOW,,0.804912,0.9425,rs12714187,,,,,,chr2,86691250,86691250,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala306Ala/c.918G>A|1321|KDM3A|protein_coding|CODING|NM_001146688.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala306Ala/c.918G>A|1321|KDM3A|protein_coding|CODING|NM_018433.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.7608,0.7594,0.80,0.90,0.75,,,,,,,,,,,,,,,,
missense_variant,KDM3A,MISSENSE,NM_001146688.1:p.Ser447Pro/c.1339T>C,Tcg/Ccg,MODERATE,COSM3758401(1),0.0728834,0,rs34605051,0.08(T),"0.0,0.0(B,B)",0.805(L),-1.1038(T),,chr2,86693826,86693826,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser447Pro/c.1339T>C|1321|KDM3A|protein_coding|CODING|NM_001146688.1|10|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser447Pro/c.1339T>C|1321|KDM3A|protein_coding|CODING|NM_018433.5|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0677,0.1392,0.15,0.13,0.16,,0.000825(N),1.000(P),"0.2,0.2,0.2,0.2(T,T,T,T)",0.0005(T),0.158,0.975208,5.65,1.78,0.460000,0.060000,1.598000,0.264000,0.018000,0.444000,5.5513
synonymous_variant,RNF103-CHMP3,SILENT,NM_001198954.1:p.Ala111Ala/c.333A>C,gcA/gcC,LOW,COSM3758403(1),0.141973,0,rs11548929,,,,,,chr2,86756381,86756381,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala16Ala/c.48A>C|156|CHMP3|protein_coding|CODING|NM_001005753.2|2|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala111Ala/c.333A>C|251|RNF103-CHMP3|protein_coding|CODING|NM_001198954.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala82Ala/c.246A>C|222|CHMP3|protein_coding|CODING|NM_016079.3|3|1),intron_variant(MODIFIER|||c.216+30A>C|182|CHMP3|protein_coding|CODING|NM_001193517.1|3|1),intron_variant(MODIFIER|||n.195-18779A>C||CHMP3||CODING|NR_036454.1|1|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0879,0.1402,0.22,0.34,0.16,,,,,,,,,,,,,,,,
synonymous_variant,RMND5A,SILENT,NM_022780.3:p.Glu120Glu/c.360G>A,gaG/gaA,LOW,,0.689696,0.9058,rs10186663,,,,,,chr2,86979093,86979093,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu120Glu/c.360G>A|391|RMND5A|protein_coding|CODING|NM_022780.3|3|1),"GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.59,0.696,0.664,0.65,0.66,0.65,,,,,,,,,,,,,,,,
synonymous_variant,CD8A,SILENT,NM_001145873.1:p.Leu189Leu/c.565T>C,Ttg/Ctg,LOW,COSM4001774(3),0.0820687,0.0744,rs3020726,,,,,,chr2,87016506,87016506,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|235|CD8A|protein_coding|CODING|NM_001145873.1|7|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|235|CD8A|protein_coding|CODING|NM_001768.6|4|1),intron_variant(MODIFIER|||c.514+257T>C|198|CD8A|protein_coding|CODING|NM_171827.3|3|1),non_coding_exon_variant(MODIFIER|||n.1040T>C||CD8A||CODING|NR_027353.1|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0337,0.062,0.1412,0.14,0.08,0.16,,,,,,,,,,,,,,,,
synonymous_variant,CD8B,SILENT,NM_172213.3:p.Leu9Leu/c.25T>C,Ttg/Ctg,LOW,COSM3758404(9),0.510982,0.5427,rs62146888,,,,,,chr2,87088964,87088964,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu9Leu/c.25T>C|198|CD8B|protein_coding|CODING|NM_001178100.1|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu9Leu/c.25T>C|210|CD8B|protein_coding|CODING|NM_004931.4|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu9Leu/c.25T>C|221|CD8B|protein_coding|CODING|NM_172101.3|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu9Leu/c.25T>C|213|CD8B|protein_coding|CODING|NM_172102.3|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu9Leu/c.25T>C|243|CD8B|protein_coding|CODING|NM_172213.3|1|1),non_coding_exon_variant(MODIFIER|||n.17A>G||ANAPC1P1||NON_CODING|NR_037931.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.407,0.3862,0.4672,,,,,,,,,,,,,,,,,,,
synonymous_variant,SMYD1,SILENT,NM_198274.3:p.Ser91Ser/c.273G>A,tcG/tcA,LOW,,0.0219649,0,rs61748137,,,,,,chr2,88383970,88383970,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser91Ser/c.273G>A|490|SMYD1|protein_coding|CODING|NM_198274.3|2|1),upstream_gene_variant(MODIFIER||1852|||MIR4780||NON_CODING|NR_039940.1||1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0346,0.0706,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SMYD1,SILENT,NM_198274.3:p.Arg113Arg/c.337C>A,Cgg/Agg,LOW,COSM443340(3),0.510383,0.9097,rs1542088,,,,,,chr2,88387403,88387403,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg113Arg/c.337C>A|490|SMYD1|protein_coding|CODING|NM_198274.3|3|1),"GM12878:H3K36me3,K562:Znf263,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6053,0.6023,0.506,,,,,,,,,,,,,,,,,,,
synonymous_variant,SMYD1,SILENT,NM_198274.3:p.Glu235Glu/c.705G>A,gaG/gaA,LOW,,0.313898,0.1627,rs2919882,,,,,,chr2,88396120,88396120,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu235Glu/c.705G>A|490|SMYD1|protein_coding|CODING|NM_198274.3|6|1),"GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.317,0.2579,0.3559,0.38,0.41,0.36,,,,,,,,,,,,,,,,
synonymous_variant,SMYD1,SILENT,NM_198274.3:p.Leu236Leu/c.708C>G,ctC/ctG,LOW,,0.313898,0.1627,rs2970912,,,,,,chr2,88396123,88396123,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu236Leu/c.708C>G|490|SMYD1|protein_coding|CODING|NM_198274.3|6|1),"GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.317,0.2579,0.3559,0.38,0.41,0.36,,,,,,,,,,,,,,,,
synonymous_variant,SMYD1,SILENT,NM_198274.3:p.Ile253Ile/c.759T>C,atT/atC,LOW,,0.313898,0.1627,rs2919881,,,,,,chr2,88396174,88396174,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile253Ile/c.759T>C|490|SMYD1|protein_coding|CODING|NM_198274.3|6|1),"GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.317,0.2579,0.3559,0.38,0.41,0.36,,,,,,,,,,,,,,,,
missense_variant,FABP1,MISSENSE,NM_001443.2:p.Thr94Ala/c.280A>G,Act/Gct,MODERATE,COSM4001779(1),0.223243,0.2073,rs2241883,0.68(T),"0.009,0.002(B,B)",2.015(M),-0.9298(T),,chr2,88424066,88424066,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr94Ala/c.280A>G|127|FABP1|protein_coding|CODING|NM_001443.2|3|1),"GM06990:H3K27me3,GM12878:H3K36me3,HepG2:PolII,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.138,0.3458,0.3479,0.27,0.17,0.32,,0.184882(N),1.000(P),"2.61,2.61(T,T)",0.0000(T),0.076,0.729033,5.5,1.35,0.533000,0.404000,0.541000,0.923000,0.885000,0.001000,6.2319
missense_variant,THNSL2,MISSENSE,NM_018271.4:p.Gly41Glu/c.122G>A,gGg/gAg,MODERATE,,0.868411,0.8591,rs4129190,1(T),"0.0,0.0,0.0(B,B,B)",-1.55(N),-0.9815(T),,chr2,88472791,88472791,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly41Glu/c.122G>A|405|THNSL2|protein_coding|CODING|NM_001244676.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly41Glu/c.122G>A|484|THNSL2|protein_coding|CODING|NM_018271.4|1|1),intron_variant(MODIFIER|||c.-56-1977G>A|226|THNSL2|protein_coding|CODING|NM_001244678.1|1|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8691,0.7767,0.8797,0.88,0.92,0.86,,0.029759(N),1.000(P),"1.74,1.74,1.74,1.74,1.74,1.74,1.74(T,T,T,T,T,T,T)",0.0000(T),0.337,-1.007432,5.36,4.19,-0.361000,0.870000,2.305000,0.425000,0.975000,1.000000,5.462
missense_variant,EIF2AK3,MISSENSE,NM_004836.5:p.Ala704Ser/c.2110G>T,Gct/Tct,MODERATE,,0.720647,0.5149,rs1805165,1(T),0.003(B),-0.93(N),-0.9299(T),,chr2,88874891,88874891,C,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala704Ser/c.2110G>T|1116|EIF2AK3|protein_coding|CODING|NM_004836.5|13|1),non_coding_exon_variant(MODIFIER|||n.1510C>A||LOC101928371||NON_CODING|NR_110236.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116968.2,,0.6329,0.67,0.7018,0.80,0.94,0.73,,0.000000(N),1.000(P),"-0.43,-0.3,-0.54(T,T,T)",0.0000(T),0.136,2.545891,6.06,4.91,-0.256000,0.545000,2.494000,0.988000,0.999000,1.000000,9.1503
missense_variant,EIF2AK3,MISSENSE,NM_004836.5:p.Gln166Arg/c.497A>G,cAa/cGa,MODERATE,COSM4001780(1),0.648962,0.4663,rs13045,1(T),0.0(B),-2.24(N),-0.9502(T),,chr2,88895123,88895123,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln166Arg/c.497A>G|1116|EIF2AK3|protein_coding|CODING|NM_004836.5|3|1),"GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116970.2,,0.5368,0.6052,0.6481,0.73,0.86,0.67,,0.000000(N),1.000(P),"1.63,1.63,1.63(T,T,T)",0.0000(T),0.117,1.712302,6.16,6.16,-0.128000,1.638000,5.497000,0.990000,0.998000,1.000000,15.8766
missense_variant,EIF2AK3,MISSENSE,NM_004836.5:p.Ser136Cys/c.407C>G,tCc/tGc,MODERATE,COSM3736267(2),0.280551,0.4851,rs867529,0.17(T),0.003(B),0.995(L),-0.8983(T),,chr2,88913273,88913273,G,C,het,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser136Cys/c.407C>G|1116|EIF2AK3|protein_coding|CODING|NM_004836.5|2|1),"K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116969.2,,0.3701,0.3343,0.2982,0.20,0.06,0.27,,0.000261(D),0.000(P),1.51(T),0.0000(T),0.25,2.527371,5.38,5.38,0.655000,2.507000,5.704000,0.812000,1.000000,1.000000,19.1382
missense_variant,TEKT4,MISSENSE,NM_144705.3:p.Arg82Cys/c.244C>T,Cgc/Tgc,MODERATE,,0.0105831,0.001,rs80243548,0.19(T),0.06(B),1.75(L),-0.8900(T),,chr2,95537568,95537568,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg82Cys/c.244C>T|435|TEKT4|protein_coding|CODING|NM_144705.3|1|1),5_prime_UTR_variant(MODIFIER||1745|c.-1006C>T|253|TEKT4|protein_coding|CODING|NM_001286559.1|1|1),intron_variant(MODIFIER|||n.1318-1126G>A||LOC442028||NON_CODING|NR_037597.1|9|1)","NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.0307,0.0072,0.0169,0.02,0.00,0.02,,0.000027(N),1.000(D),"4.13,4.13(T,T)",0.0051(T),0.204,2.317321,1.97,1.97,0.558000,1.094000,-0.002000,0.479000,0.741000,0.174000,9.5816
missense_variant,TEKT4,MISSENSE,NM_144705.3:p.Thr83Met/c.248C>T,aCg/aTg,MODERATE,COSM3749681(7),0.389776,0.4831,rs4854235,0.13(T),0.542(P),1.78(L),-0.9264(T),,chr2,95537572,95537572,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr83Met/c.248C>T|435|TEKT4|protein_coding|CODING|NM_144705.3|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||253|TEKT4|protein_coding|CODING|NM_001286559.1|1|1),5_prime_UTR_variant(MODIFIER||1741|c.-1002C>T|253|TEKT4|protein_coding|CODING|NM_001286559.1|1|1),intron_variant(MODIFIER|||n.1318-1130G>A||LOC442028||NON_CODING|NR_037597.1|9|1)","NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.2403,0.4063,0.2744,0.35,0.47,0.30,,0.000888(D),0.045(P),"4.19,4.19(T,T)",0.0000(T),0.217,2.091221,1.97,1.97,0.558000,1.094000,3.622000,0.454000,0.671000,0.774000,9.5816
missense_variant,TEKT4,MISSENSE,NM_144705.3:p.Ser100Gly/c.298A>G,Agc/Ggc,MODERATE,COSM3749682(4),0.427516,0.4881,rs11164112,0.32(T),0.0(B),-1.04(N),-1.0358(T),,chr2,95537622,95537622,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser100Gly/c.298A>G|435|TEKT4|protein_coding|CODING|NM_144705.3|1|1),5_prime_UTR_variant(MODIFIER||1691|c.-952A>G|253|TEKT4|protein_coding|CODING|NM_001286559.1|1|1),intron_variant(MODIFIER|||n.1318-1180T>C||LOC442028||NON_CODING|NR_037597.1|9|1)","NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.319,0.4467,0.3419,0.41,0.49,0.37,,0.256532(N),1.000(P),"4.24,4.24(T,T)",0.0000(T),0.074,-1.235674,1.97,-0.615,-1.144000,-0.228000,0.388000,0.040000,0.328000,0.608000,3.6684
missense_variant,PROM2,MISSENSE,NM_001165977.1:p.Gln508Arg/c.1523A>G,cAg/cGg,MODERATE,,0.79972,0.6885,rs12992066,0.75(T),0.0(B),-0.41(N),-0.9844(T),,chr2,95947085,95947085,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln508Arg/c.1523A>G|834|PROM2|protein_coding|CODING|NM_001165977.1|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln508Arg/c.1523A>G|834|PROM2|protein_coding|CODING|NM_001165978.1|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln508Arg/c.1523A>G|834|PROM2|protein_coding|CODING|NM_144707.2|12|1)","H1ESC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7546,0.866,0.7664,0.80,0.88,0.76,,0.909370(N),1.000(P),"0.9,0.9,0.9,0.9(T,T,T,T)",0.0000(T),0.046,-2.208608,5.07,-3.94,-3.265000,-2.531000,0.082000,0.183000,0.158000,0.979000,14.3749
synonymous_variant,GPAT2,SILENT,NM_207328.2:p.Pro45Pro/c.135C>T,ccC/ccT,LOW,,0.0770767,0.1538,rs76666665,,,,,,chr2,96697823,96697823,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro45Pro/c.135C>T|795|GPAT2|protein_coding|CODING|NM_207328.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0307,0.1066,0.0159,0.03,0.07,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ADRA2B,SILENT,NM_000682.6:p.Gly391Gly/c.1173A>C,ggA/ggC,LOW,,0.705272,0.5962,rs2229169,,,,,,chr2,96780716,96780716,T,G,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly391Gly/c.1173A>C|447|ADRA2B|protein_coding|CODING|NM_000682.6|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7904,0.6571,0.6819,0.70,0.75,0.68,,,,,,,,,,,,,,,,
synonymous_variant,ADRA2B,SILENT,NM_000682.6:p.Thr12Thr/c.36A>G,acA/acG,LOW,COSM3766602(1),0.0964457,0.2014,rs9333567,,,,,,chr2,96781853,96781853,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr12Thr/c.36A>G|447|ADRA2B|protein_coding|CODING|NM_000682.6|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0368,0.1326,0.0398,0.05,0.06,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ASTL,SILENT,NM_001002036.3:p.Leu366Leu/c.1098A>G,ctA/ctG,LOW,COSM443381(3),0.329473,0.4256,rs893173,,,,,,chr2,96789787,96789787,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu366Leu/c.1098A>G|431|ASTL|protein_coding|CODING|NM_001002036.3|9|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2331,0.3775,0.3549,0.34,0.30,0.36,,,,,,,,,,,,,,,,
missense_variant,ASTL,MISSENSE,NM_001002036.3:p.Lys277Gln/c.829A>C,Aaa/Caa,MODERATE,COSM3758413(2),0.384185,0.621,rs1657502,0.26(T),0.025(B),1.65(L),-0.9069(T),,chr2,96795608,96795608,T,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys277Gln/c.829A>C|431|ASTL|protein_coding|CODING|NM_001002036.3|8|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2505,0.4712,0.3559,0.34,0.29,0.36,,0.257382(N),1.000(P),-0.1(T),0.0000(T),0.049,1.930962,4.14,-2.33,0.454000,-0.187000,0.677000,0.953000,0.206000,0.552000,12.28
synonymous_variant,ASTL,SILENT,NM_001002036.3:p.Leu241Leu/c.723C>T,ctC/ctT,LOW,,0.378794,0.5952,rs386610677,,,,,,chr2,96795714,96795714,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu241Leu/c.723C>T|431|ASTL|protein_coding|CODING|NM_001002036.3|8|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2485,0.4712,0.3569,0.34,0.30,0.36,,,,,,,,,,,,,,,,
missense_variant,ASTL,MISSENSE,NM_001002036.3:p.Gln222Arg/c.665A>G,cAg/cGg,MODERATE,,0.927117,1,rs386610676,0.95(T),0.001(B),-0.155(N),-0.9520(T),,chr2,96795857,96795857,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln222Arg/c.665A>G|431|ASTL|protein_coding|CODING|NM_001002036.3|7|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9652,0.8732,0.7684,0.85,0.96,0.80,,0.769810(N),1.000(P),0.02(T),0.0000(T),0.019,-0.868078,4.14,-1.91,-0.222000,-0.522000,-0.603000,0.971000,0.931000,0.001000,1.3369
missense_variant,ASTL,MISSENSE,NM_001002036.3:p.Arg204His/c.611G>A,cGt/cAt,MODERATE,COSM2150335(1),0.028754,0.0119,rs41320144,0.13(T),0.013(B),1.235(L),-1.0379(T),,chr2,96798305,96798305,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg204His/c.611G>A|431|ASTL|protein_coding|CODING|NM_001002036.3|6|1),"GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0235,0.0303,0.0338,0.04,0.03,0.04,,0.233499(N),1.000(N),-0.06(T),0.0420(T),0.075,1.274202,4.41,0.941,-0.261000,0.303000,-0.586000,0.462000,0.983000,0.000000,7.2544
synonymous_variant,SNRNP200,SILENT,NM_014014.4:p.Leu1773Leu/c.5317C>T,Ctg/Ttg,LOW,COSM3758414(2),0.246006,0.4256,rs386612761,,,,,,chr2,96944553,96944553,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1773Leu/c.5317C>T|2136|SNRNP200|protein_coding|CODING|NM_014014.4|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1687,0.3242,0.3101,0.25,0.11,0.32,,,,,,,,,,,,,,,,
synonymous_variant,NEURL3,SILENT,NM_001285485.1:p.Tyr162Tyr/c.486T>C,taT/taC,LOW,,0.729034,0.8333,rs3731938,,,,,,chr2,97166204,97166204,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr162Tyr/c.486T>C|262|NEURL3|protein_coding|CODING|NM_001285485.1|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr4Tyr/c.12T>C|128|NEURL3|protein_coding|CODING|NM_001285486.1|3|1),non_coding_exon_variant(MODIFIER|||n.774T>C||NEURL3||CODING|NR_104346.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8926,0.7651,0.6123,0.63,0.61,0.63,,,,,,,,,,,,,,,,
missense_variant,FER1L5,MISSENSE,NM_001293083.1:p.Thr687Ala/c.2059A>G,Acc/Gcc,MODERATE,,0.504792,0.4524,rs7599598,1(T),0.0(B),-1.01(N),-0.9838(T),,chr2,97351840,97351840,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr687Ala/c.2059A>G|2057|FER1L5|protein_coding|CODING|NM_001293083.1|22|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:TAF1,HepG2:DNase1,HepG2:H3K27me3",,,,0.229,0.3357,0.4324,0.53,0.82,0.40,,,,,0.0000(T),0.016,1.834794,5.59,1.53,-0.119000,-0.218000,-0.134000,0.787000,0.001000,0.000000,3.8475
synonymous_variant,FAM178B,SILENT,NM_001122646.2:p.Thr339Thr/c.1017A>G,acA/acG,LOW,COSM3840310(1),0.663339,0.504,rs1624844,,,,,,chr2,97613616,97613616,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr339Thr/c.1017A>G|679|FAM178B|protein_coding|CODING|NM_001122646.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3303,0.5879,0.8131,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM178B,SILENT,NM_001122646.2:p.Val323Val/c.969A>G,gtA/gtG,LOW,COSM3840311(2),0.651957,0.504,rs1257019,,,,,,chr2,97617140,97617140,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val323Val/c.969A>G|679|FAM178B|protein_coding|CODING|NM_001122646.2|7|1),"NHEK:CTCF,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:E2F6,NHEK:H3K27me3,NH-A:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.3292,0.5807,0.8131,,,,,,,,,,,,,,,,,,,
missense_variant,FAM178B,MISSENSE,NM_001122646.2:p.Ile99Met/c.297A>G,atA/atG,MODERATE,,0.635383,0.4276,rs6715329,1(T),,-0.205(N),-0.9600(T),,chr2,97637905,97637905,T,C,hom,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile99Met/c.297A>G|679|FAM178B|protein_coding|CODING|NM_001122646.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3354,0.5951,0.8996,,,,,,0.000(P),"0.83,0.93,0.91(T,T,T)",0.0000(T),0.09,-1.667310,4.22,3.34,-0.119000,0.755000,0.571000,0.176000,0.981000,0.988000,6.8436
missense_variant,FAM178B,MISSENSE,NM_001122646.2:p.Val55Ala/c.164T>C,gTg/gCg,MODERATE,COSM4134153(1),0.598442,0.3839,rs1730120,0.56(T),,0(N),-0.9922(T),,chr2,97638038,97638038,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val55Ala/c.164T>C|679|FAM178B|protein_coding|CODING|NM_001122646.2|3|1),"CD4:H3K18ac,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3241,0.585,0.8986,0.83,0.76,0.86,,,1.000(P),"0.67,0.76,0.73(T,T,T)",0.0000(T),0.057,0.626644,3.55,-4.56,-0.327000,-0.898000,-2.563000,0.001000,0.000000,0.000000,1.6062
synonymous_variant,ANKRD36,SILENT,NM_001164315.1:p.Gln652Gln/c.1956A>G,caA/caG,LOW,,0.390375,0.2579,rs62154801,,,,,,chr2,97851069,97851069,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln652Gln/c.1956A>G|1941|ANKRD36|protein_coding|CODING|NM_001164315.1|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2832,0.4856,0.7932,0.62,0.30,0.75,,,,,,,,,,,,,,,,
missense_variant,ANKRD36,MISSENSE,NM_001164315.1:p.Pro1126Gln/c.3377C>A,cCg/cAg,MODERATE,COSM3991528(2),0.64996,0.4772,rs10171441,0.35(T),0.0(B),-0.55(N),-1.0098(T),,chr2,97877292,97877292,C,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro1126Gln/c.3377C>A|1941|ANKRD36|protein_coding|CODING|NM_001164315.1|57|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3497,0.6182,0.9195,,,,,,1.000(P),"-1.02,-1.02(T,T)",0.0000(T),0.042,-2.762930,0.981,0.981,-0.643000,-0.101000,0.189000,0.015000,0.006000,0.505000,3.7959
missense_variant,ANKRD36,MISSENSE,NM_001164315.1:p.Met1144Thr/c.3431T>C,aTg/aCg,MODERATE,COSM4134201(1),0.264377,0.1964,rs35711845,0.37(T),0.0(B),0(N),-0.9589(T),,chr2,97877440,97877440,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1144Thr/c.3431T>C|1941|ANKRD36|protein_coding|CODING|NM_001164315.1|58|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2485,0.3602,0.5129,0.40,0.18,0.50,,,1.000(P),"-1.08,-1.08(T,T)",0.0000(T),0.039,-0.454824,1.17,-2.3,-0.727000,-0.591000,0.779000,0.000000,0.000000,0.002000,1.5487
missense_variant,ANKRD36,MISSENSE,NM_001164315.1:p.Val1157Met/c.3469G>A,Gtg/Atg,MODERATE,COSM1024079(2),,,rs10194525,0.02(D),0.608(P),1.24(L),-1.0603(T),,chr2,97877478,97877478,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1157Met/c.3469G>A|1941|ANKRD36|protein_coding|CODING|NM_001164315.1|58|1),splice_region_variant(LOW|||c.3469G>A|1941|ANKRD36|protein_coding|CODING|NM_001164315.1|58|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"2.02,2.02(T,T)",0.0518(T),0.121,1.775024,1.17,1.17,0.436000,0.949000,1.868000,0.056000,0.147000,0.997000,5.763
synonymous_variant,ACTR1B,SILENT,NM_005735.3:p.Val268Val/c.804C>G,gtC/gtG,LOW,COSM3720702(5),0.532348,0.371,rs1042705,,,,,,chr2,98274527,98274527,G,C,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val268Val/c.804C>G|376|ACTR1B|protein_coding|CODING|NM_005735.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2403,0.5375,0.7366,0.71,0.69,0.72,,,,,,,,,,,,,,,,
missense_variant,ACTR1B,MISSENSE,NM_005735.3:p.Ala143Val/c.428C>T,gCt/gTt,MODERATE,COSM1178462(1),0.023762,0,rs11692435,0(D),0.999(D),4.295(H),-0.3642(T),,chr2,98275354,98275354,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala143Val/c.428C>T|376|ACTR1B|protein_coding|CODING|NM_005735.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0375,0.0835,0.06,0.02,0.08,,0.000000(D),0.000(P),-4.55(D),0.6348(D),0.653,4.990255,4.79,4.79,0.655000,2.369000,9.697000,0.961000,0.998000,1.000000,15.6865
synonymous_variant,ZAP70,SILENT,NM_001079.3:p.Glu559Glu/c.1677G>A,gaG/gaA,LOW,COSM4134221(1),0.148363,0.0109,rs3192177,,,,,,chr2,98354511,98354511,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu559Glu/c.1677G>A|619|ZAP70|protein_coding|CODING|NM_001079.3|13|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu252Glu/c.756G>A|312|ZAP70|protein_coding|CODING|NM_207519.1|5|1)","GM12878:H3K36me3,CD4:H4K20me1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1115,0.2075,0.3618,0.27,0.13,0.34,,,,,,,,,,,,,,,,
missense_variant,TMEM131,MISSENSE,NM_015348.1:p.Pro1316Leu/c.3947C>T,cCg/cTg,MODERATE,COSM3766606(2),0.147165,0.0119,rs12995673,0.28(T),0.001(B),0.69(N),-0.9231(T),,chr2,98409046,98409046,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1316Leu/c.3947C>T|1883|TMEM131|protein_coding|CODING|NM_015348.1|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1227,0.2046,0.3917,0.28,0.10,0.37,,0.464371(N),0.313(P),2.17(T),0.0000(T),0.063,1.741897,5.91,3.94,0.655000,1.505000,1.805000,0.781000,0.930000,0.977000,8.8937
synonymous_variant,TMEM131,SILENT,NM_015348.1:p.Gly44Gly/c.132C>A,ggC/ggA,LOW,COSM3749691(15),0.592053,0.2867,rs2279824,,,,,,chr2,98611994,98611994,G,T,hom,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly44Gly/c.132C>A|1883|TMEM131|protein_coding|CODING|NM_015348.1|1|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:THAP1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.3027,0.5591,0.7793,,,,,,,,,,,,,,,,,,,
missense_variant,VWA3B,MISSENSE,NM_144992.4:p.Leu677Val/c.2029C>G,Ctg/Gtg,MODERATE,,0.689097,0.7986,rs7601049,0.85(T),"0.041,0.015,0.015,0.041(B,B,B,B)",0.77(N),-0.9748(T),,chr2,98844674,98844674,C,G,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu677Val/c.2029C>G|1294|VWA3B|protein_coding|CODING|NM_144992.4|15|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.8487,0.5331,0.6034,0.62,0.64,0.61,,0.900507(N),0.998(P),3.4(T),0.0000(T),0.125,1.029089,5.8,-5.07,0.467000,-0.468000,-1.794000,0.874000,0.033000,0.001000,3.0445
missense_variant,VWA3B,MISSENSE,NM_144992.4:p.Val885Met/c.2653G>A,Gtg/Atg,MODERATE,COSM3758419(2),0.664137,0.7976,rs11889349,,,1.175(L),-1.0024(T),,chr2,98853173,98853173,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val885Met/c.2653G>A|1294|VWA3B|protein_coding|CODING|NM_144992.4|19|1),"GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8303,0.4914,0.5447,0.57,0.61,0.54,,,1.000(P),,0.0000(T),.,-0.795959,4.93,0.946,-1.458000,-0.049000,0.250000,0.030000,0.001000,0.001000,4.4952
missense_variant,VWA3B,MISSENSE,NM_144992.4:p.Arg1245Lys/c.3734G>A,aGg/aAg,MODERATE,COSM4134222(1),0.992013,1,rs7587534,1(T),"0.0,0.0(B,B)",-1.1(N),-0.9434(T),,chr2,98928494,98928494,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1245Lys/c.3734G>A|1294|VWA3B|protein_coding|CODING|NM_144992.4|27|1),splice_region_variant(LOW|||c.3734G>A|1294|VWA3B|protein_coding|CODING|NM_144992.4|27|1)","HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,GM12878:H3K36me3,K562:CTCFL,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.999,0.9942,0.9652,0.97,0.99,0.96,,,1.000(P),3.59(T),0.0000(T),0.163,-0.638228,3.93,-4.06,-0.817000,-1.222000,-0.659000,0.001000,0.003000,0.001000,14.7038
missense_variant,EIF5B,MISSENSE,NM_015904.3:p.Lys522Thr/c.1565A>C,aAa/aCa,MODERATE,COSM4001807(1),0.591853,0.3671,rs386427839,,0.0(B),1.15(L),-1.0036(T),,chr2,99992822,99992822,A,C,hom,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys522Thr/c.1565A>C|1220|EIF5B|protein_coding|CODING|NM_015904.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5307,0.7032,0.5686,0.63,0.76,0.57,,,0.998(P),0.81(T),0.0000(T),0.024,0.084868,6.17,5.29,-0.121000,0.933000,2.998000,0.444000,0.545000,0.992000,10.7971
synonymous_variant,EIF5B,SILENT,NM_015904.3:p.Asp658Asp/c.1974T>C,gaT/gaC,LOW,COSM4001808(1),0.603834,0.3681,rs1376443,,,,,,chr2,99995804,99995804,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp658Asp/c.1974T>C|1220|EIF5B|protein_coding|CODING|NM_015904.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5777,0.7104,0.5865,0.63,0.75,0.57,,,,,,,,,,,,,,,,
synonymous_variant,REV1,SILENT,NM_016316.2:p.Ile1080Ile/c.3240T>C,atT/atC,LOW,,0.588658,0.3681,rs2305354,,,,,,chr2,100019496,100019496,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1079Ile/c.3237T>C|1250|REV1|protein_coding|CODING|NM_001037872.1|20|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1080Ile/c.3240T>C|1251|REV1|protein_coding|CODING|NM_016316.2|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5286,0.7017,0.5696,0.61,0.74,0.55,,,,,,,,,,,,,,,,
missense_variant,REV1,MISSENSE,NM_016316.2:p.Asn373Ser/c.1118A>G,aAt/aGt,MODERATE,COSM3757516(1),0.167931,0.0536,rs3087399,0.65(T),"0.086,0.008,0.097(B,B,B)",1.555(L),-0.9838(T),,chr2,100055158,100055158,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn373Ser/c.1118A>G|1250|REV1|protein_coding|CODING|NM_001037872.1|6|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn373Ser/c.1118A>G|1251|REV1|protein_coding|CODING|NM_016316.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.0576,0.1193,0.17,0.26,0.12,,0.000031(N),0.001(P),"1.55,1.56,0.62(T,T,T)",0.0000(T),0.052,1.063410,5.99,-0.648,-0.250000,-0.321000,1.404000,0.977000,0.794000,1.000000,10.7703
missense_variant,REV1,MISSENSE,NM_016316.2:p.Phe257Ser/c.770T>C,tTt/tCt,MODERATE,COSM4001089(2),0.580272,0.3611,rs3087386,0.78(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-0.9788(T),,chr2,100055506,100055506,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe257Ser/c.770T>C|1250|REV1|protein_coding|CODING|NM_001037872.1|6|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe257Ser/c.770T>C|1251|REV1|protein_coding|CODING|NM_016316.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5307,0.7003,0.5666,0.60,0.71,0.55,,0.957370(N),1.000(P),"1.8,1.8(T,T)",0.0000(T),0.064,-0.781505,5.54,-0.0271,-1.653000,-0.622000,0.717000,0.074000,0.000000,0.164000,6.4404
synonymous_variant,AFF3,SILENT,NM_001025108.1:p.Ala421Ala/c.1263C>T,gcC/gcT,LOW,COSM1752740(4),0.239816,0.4038,rs4851214,,,,,,chr2,100218080,100218080,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala421Ala/c.1263C>T|1251|AFF3|protein_coding|CODING|NM_001025108.1|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala396Ala/c.1188C>T|1226|AFF3|protein_coding|CODING|NM_002285.2|13|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3303,0.2291,0.2932,0.20,0.06,0.27,,,,,,,,,,,,,,,,
missense_variant,AFF3,MISSENSE,NM_001025108.1:p.Ser383Asn/c.1148G>A,aGt/aAt,MODERATE,,1,1,rs4851223,1(T),"0.0,0.0,0.0(B,B,B)",-0.52(N),-0.9264(T),,chr2,100343557,100343557,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser383Asn/c.1148G>A|1251|AFF3|protein_coding|CODING|NM_001025108.1|10|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser358Asn/c.1073G>A|1226|AFF3|protein_coding|CODING|NM_002285.2|10|1)",,,,,1,1,1,,,,,0.004374(N),1.000(P),"0.01,0.01,0.01,0.01(T,T,T,T)",0.0000(T),0.075,-0.036363,5.26,5.26,-0.254000,0.844000,3.279000,0.995000,1.000000,1.000000,9.8463
missense_variant,LONRF2,MISSENSE,NM_198461.3:p.Leu426Pro/c.1277T>C,cTt/cCt,MODERATE,,0.771765,0.9405,rs4851287,0.3(T),0.0(B),-1.5(N),-0.8794(T),,chr2,100915772,100915772,A,G,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu426Pro/c.1277T>C|754|LONRF2|protein_coding|CODING|NM_198461.3|6|1),"HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5624,0.7363,0.675,0.71,0.83,0.64,,0.066060(N),1.000(P),"-1.85,-2.0(D,D)",0.0000(T),0.039,-1.017352,3.96,3.96,-0.227000,0.878000,1.729000,0.001000,0.014000,0.972000,7.1311
synonymous_variant,LONRF2,SILENT,NM_198461.3:p.Phe380Phe/c.1140T>C,ttT/ttC,LOW,,0.771366,0.9405,rs2033748,,,,,,chr2,100916306,100916306,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe380Phe/c.1140T>C|754|LONRF2|protein_coding|CODING|NM_198461.3|5|1),"HUVEC:H3K27me3,K562:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5624,0.7349,0.673,0.71,0.83,0.64,,,,,,,,,,,,,,,,
synonymous_variant,LONRF2,SILENT,NM_198461.3:p.Gly377Gly/c.1131T>C,ggT/ggC,LOW,COSM148913(1),0.290735,0.4851,rs11123823,,,,,,chr2,100916315,100916315,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly377Gly/c.1131T>C|754|LONRF2|protein_coding|CODING|NM_198461.3|5|1),"HUVEC:H3K27me3,K562:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2822,0.2392,0.4851,0.34,0.11,0.46,,,,,,,,,,,,,,,,
synonymous_variant,LONRF2,SILENT,NM_198461.3:p.Ser354Ser/c.1062G>A,tcG/tcA,LOW,COSM4132904(1),0.378594,0.7252,rs13006224,,,,,,chr2,100917109,100917109,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser354Ser/c.1062G>A|754|LONRF2|protein_coding|CODING|NM_198461.3|4|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.318,0.4467,0.498,0.36,0.11,0.48,,,,,,,,,,,,,,,,
missense_variant,LONRF2,MISSENSE,NM_198461.3:p.Asp110Glu/c.330C>G,gaC/gaG,MODERATE,COSM4132906(1),0.41234,0.7768,rs74177694,1(T),0.0(B),-1.625(N),-0.9361(T),,chr2,100938226,100938226,G,C,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp110Glu/c.330C>G|754|LONRF2|protein_coding|CODING|NM_198461.3|1|1),"H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2863,0.4784,0.4861,,,,,0.000023(N),0.995(P),-1.5(D),0.0000(T),0.045,0.182874,2.72,1.82,-0.700000,0.069000,0.656000,0.403000,0.016000,0.002000,7.1592
synonymous_variant,LONRF2,SILENT,NM_198461.3:p.Ala105Ala/c.315C>T,gcC/gcT,LOW,,0.361621,0.7728,rs192225848,,,,,,chr2,100938241,100938241,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala105Ala/c.315C>T|754|LONRF2|protein_coding|CODING|NM_198461.3|1|1),"H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2434,0.4164,0.336,,,,,,,,,,,,,,,,,,,
synonymous_variant,LONRF2,SILENT,NM_198461.3:p.Glu76Glu/c.228A>G,gaA/gaG,LOW,COSM4132907(3),0.41254,0.7768,rs74177695,,,,,,chr2,100938328,100938328,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu76Glu/c.228A>G|754|LONRF2|protein_coding|CODING|NM_198461.3|1|1),"K562:H3K4me3,H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.2863,0.4784,0.4861,,,,,,,,,,,,,,,,,,,
missense_variant,LONRF2,MISSENSE,NM_198461.3:p.Gln25His/c.75G>C,caG/caC,MODERATE,COSM4132908(1),0.394768,0.7212,rs74177696,0.11(T),0.146(B),0.69(N),-0.9163(T),,chr2,100938481,100938481,C,G,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln25His/c.75G>C|754|LONRF2|protein_coding|CODING|NM_198461.3|1|1),"K562:H3K4me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.2863,0.4597,0.4861,,,,,0.058792(U),1.000(P),-1.77(D),0.0000(T),0.066,1.061304,2.7,1.8,-1.098000,0.466000,-0.229000,0.015000,0.001000,0.256000,7.0577
synonymous_variant,CHST10,SILENT,NM_004854.4:p.Thr232Thr/c.696C>G,acC/acG,LOW,,0.605831,0.8065,rs3748930,,,,,,chr2,101010082,101010082,G,C,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr232Thr/c.696C>G|356|CHST10|protein_coding|CODING|NM_004854.4|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.501,0.5778,0.499,0.54,0.63,0.50,,,,,,,,,,,,,,,,
missense_variant,NMS,MISSENSE,NM_001011717.1:p.Pro6Ser/c.16C>T,Ccc/Tcc,MODERATE,COSM148914(2),0.270767,0.3502,rs13411940,0.06(T),0.096(B),1.845(L),-1.0043(T),,chr2,101086966,101086966,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro6Ser/c.16C>T|153|NMS|protein_coding|CODING|NM_001011717.1|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,HeLa-S3:H3K27me3",,,,0.3027,0.1931,0.2048,0.24,0.27,0.22,,0.006318(N),1.000(P),0.73(T),0.0000(T),0.082,1.563248,4.33,2.53,0.655000,0.579000,0.009000,0.004000,0.003000,0.001000,5.9059
synonymous_variant,PDCL3,SILENT,NM_024065.4:p.Phe91Phe/c.273C>T,ttC/ttT,LOW,COSM3749587(2),0.653155,0.9772,rs1052117,,,,-1.0231(T),,chr2,101186088,101186088,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe91Phe/c.273C>T|239|PDCL3|protein_coding|CODING|NM_024065.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7342,0.4236,0.4404,0.48,0.61,0.42,,,0.000(P),,0.0000(T),.,1.159365,4.59,4.59,-0.381000,0.705000,3.013000,0.917000,1.000000,1.000000,9.3103
synonymous_variant,NPAS2,SILENT,NM_002518.3:p.Val218Val/c.654G>A,gtG/gtA,LOW,COSM3757526(1),0.0866613,0.001,rs41280595,,,,,,chr2,101580575,101580575,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val218Val/c.654G>A|824|NPAS2|protein_coding|CODING|NM_002518.3|8|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.09,0.0951,0.169,0.15,0.09,0.18,,,,,,,,,,,,,,,,
missense_variant,NPAS2,MISSENSE,NM_002518.3:p.Thr394Ala/c.1180A>G,Aca/Gca,MODERATE,COSM4132910(1),0.798123,0.8552,rs2305160,0.44(T),"0.003,0.001(B,B)",-0.55(N),-1.0826(T),,chr2,101591304,101591304,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr394Ala/c.1180A>G|824|NPAS2|protein_coding|CODING|NM_002518.3|13|1),intron_variant(MODIFIER|||n.575+443T>C||LOC101927142||NON_CODING|NR_110213.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7464,0.7133,0.67,0.75,0.89,0.67,,0.162783(N),1.000(P),"3.53,3.51(T,T)",0.0000(T),0.045,-0.795188,6.17,-1.04,-2.004000,-0.506000,0.560000,0.018000,0.000000,0.020000,6.3987
missense_variant,NPAS2,MISSENSE,NM_002518.3:p.Ser471Leu/c.1412C>T,tCg/tTg,MODERATE,COSM3757528(2),0.0826677,0.001,rs11541353,0.37(T),"0.008,0.0,0.004(B,B,B)",0.69(N),-1.1005(T),,chr2,101594191,101594191,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser471Leu/c.1412C>T|824|NPAS2|protein_coding|CODING|NM_002518.3|15|1),upstream_gene_variant(MODIFIER||568|||LOC101927142||NON_CODING|NR_110213.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0879,0.0922,0.17,0.15,0.09,0.18,,0.215274(N),1.000(P),"3.47,3.45,1.47(T,T,T)",0.0001(T),0.263,0.942506,5.69,5.69,0.655000,2.677000,2.026000,0.307000,0.007000,0.006000,12.2995
synonymous_variant,NPAS2,SILENT,NM_002518.3:p.Thr710Thr/c.2130C>T,acC/acT,LOW,COSM3757531(2),0.252796,0.2192,rs9223,,,,-0.9659(T),,chr2,101609827,101609827,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr710Thr/c.2130C>T|824|NPAS2|protein_coding|CODING|NM_002518.3|20|1),"HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4315,0.304,0.3002,0.25,0.12,0.31,,,1.000(P),1.52(T),0.0000(T),.,1.584424,5.77,-8.78,-0.136000,-1.815000,-1.203000,0.742000,0.006000,0.000000,1.6356
missense_variant,TBC1D8,MISSENSE,NM_001102426.1:p.Arg1079Gly/c.3235A>G,Agg/Ggg,MODERATE,COSM3757533(2),0.514377,0.2946,rs746924,0.53(T),0.0(B),-0.605(N),-1.1134(T),,chr2,101624471,101624471,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg1079Gly/c.3235A>G|1140|TBC1D8|protein_coding|CODING|NM_001102426.1|20|1),downstream_gene_variant(MODIFIER||1586||125|RPL31|protein_coding|CODING|NM_000993.4||1),downstream_gene_variant(MODIFIER||1586||121|RPL31|protein_coding|CODING|NM_001099693.1||1),intron_variant(MODIFIER|||c.346+1938T>C|128|RPL31|protein_coding|CODING|NM_001098577.2|4|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.593,0.5706,0.6819,0.62,0.52,0.67,,0.001032(N),0.000(P),"4.09,4.09(T,T)",0.0000(T),0.083,-1.023717,5.14,5.14,-0.186000,1.143000,1.224000,0.160000,0.976000,0.844000,13.5418
missense_variant,TBC1D8,MISSENSE,NM_001102426.1:p.Met988Thr/c.2963T>C,aTg/aCg,MODERATE,,,,,0.07(T),0.954(D),2.505(M),-1.0727(T),,chr2,101627398,101627398,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met988Thr/c.2963T>C|1140|TBC1D8|protein_coding|CODING|NM_001102426.1|19|1),intron_variant(MODIFIER|||c.346+4865A>G|128|RPL31|protein_coding|CODING|NM_001098577.2|4|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.000001(D),1.000(D),"3.26,3.28(T,T)",0.0718(T),0.898,3.610730,4.54,4.54,0.533000,1.994000,8.554000,0.998000,1.000000,1.000000,14.598
missense_variant,TBC1D8,MISSENSE,NM_001102426.1:p.Gly954Arg/c.2860G>A,Ggg/Agg,MODERATE,COSM3757534(1),0.0439297,0.001,rs1062062,0.22(T),0.004(B),1.32(L),-0.9192(T),,chr2,101627925,101627925,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly954Arg/c.2860G>A|1140|TBC1D8|protein_coding|CODING|NM_001102426.1|18|1),intron_variant(MODIFIER|||c.346+5392C>T|128|RPL31|protein_coding|CODING|NM_001098577.2|4|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.047,0.0634,0.1262,0.10,0.03,0.13,,0.000006(D),0.000(P),"4.01,4.01(T,T)",0.0002(T),0.565,2.427061,5.67,5.67,0.655000,2.828000,2.987000,0.967000,0.082000,0.083000,14.9126
synonymous_variant,TBC1D8,SILENT,NM_001102426.1:p.Thr877Thr/c.2631G>A,acG/acA,LOW,,0.0577077,0.001,rs34685616,,,,,,chr2,101638828,101638828,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr877Thr/c.2631G>A|1140|TBC1D8|protein_coding|CODING|NM_001102426.1|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.047,0.0634,0.1262,0.11,0.06,0.13,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D8,SILENT,NM_001102426.1:p.Asp857Asp/c.2571T>C,gaT/gaC,LOW,COSM4132915(1),0.526957,0.2946,rs3739014,,,,,,chr2,101638888,101638888,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp857Asp/c.2571T>C|1140|TBC1D8|protein_coding|CODING|NM_001102426.1|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.593,0.5533,0.6829,0.64,0.58,0.67,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D8,SILENT,NM_001102426.1:p.Pro739Pro/c.2217C>T,ccC/ccT,LOW,COSM4001100(2),0.215256,0.1667,rs11683877,,,,,,chr2,101644855,101644855,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro739Pro/c.2217C>T|1140|TBC1D8|protein_coding|CODING|NM_001102426.1|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.3978,0.2853,0.2744,0.22,0.08,0.29,,,,,,,,,,,,,,,,
missense_variant,TBC1D8,MISSENSE,NM_001102426.1:p.Thr317Ala/c.949A>G,Acg/Gcg,MODERATE,COSM4132918(1),0.485623,0.3075,rs2289953,0.56(T),0.0(B),-1.525(N),-0.9070(T),,chr2,101656726,101656726,T,C,hom,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr317Ala/c.949A>G|1140|TBC1D8|protein_coding|CODING|NM_001102426.1|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5941,0.5648,0.6819,0.59,0.43,0.66,,0.912143(N),1.000(P),"-2.12,-2.12(D,D)",0.0000(T),0.082,0.290495,5.86,4.0,-0.119000,0.360000,1.185000,0.367000,0.000000,0.000000,11.3848
synonymous_variant,CNOT11,SILENT,NM_017546.4:p.Pro54Pro/c.162G>T,ccG/ccT,LOW,COSM3757538(3),0.378794,0.5278,rs2272320,,,,,,chr2,101869588,101869588,G,T,hom,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro54Pro/c.162G>T|510|CNOT11|protein_coding|CODING|NM_017546.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.3476,0.4539,0.4354,0.35,0.25,0.40,,,,,,,,,,,,,,,,
missense_variant,RNF149,MISSENSE,NM_173647.3:p.Asp356Glu/c.1068C>G,gaC/gaG,MODERATE,,0.846046,1,rs13151,0.63(T),0.0(B),0(N),-1.0531(T),,chr2,101898412,101898412,G,C,hom,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp356Glu/c.1068C>G|400|RNF149|protein_coding|CODING|NM_173647.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9059,0.9135,0.8738,0.81,0.69,0.87,,0.384495(N),1.000(P),3.16(T),0.0000(T),0.017,-0.612906,5.63,-1.9,-1.100000,-0.942000,-0.698000,0.001000,0.000000,0.000000,3.1889
missense_variant,RFX8,MISSENSE,NM_001145664.1:p.Met412Thr/c.1235T>C,aTg/aCg,MODERATE,COSM4132922(2),0.452476,0.4861,rs2175968,1(T),"0.0,0.0(B,B)",-0.975(N),-0.9406(T),,chr2,102018908,102018908,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met412Thr/c.1235T>C|473|RFX8|protein_coding|CODING|NM_001145664.1|11|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3978,0.3372,0.5457,0.51,0.47,0.53,,0.000021(N),1.000(P),"-0.66,1.29(T,T)",0.0000(T),0.071,-0.962543,4.7,3.81,-0.479000,1.354000,0.966000,0.936000,0.854000,0.815000,6.7948
missense_variant,RFX8,MISSENSE,NM_001145664.1:p.Gln53Leu/c.158A>T,cAg/cTg,MODERATE,,0.901957,0.8819,rs4851436,0.33(T),0.0(B),-1.04(N),-0.9718(T),,chr2,102038849,102038849,T,A,hom,missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln53Leu/c.158A>T|473|RFX8|protein_coding|CODING|NM_001145664.1|3|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.998,0.8213,0.9891,0.95,0.84,0.99,,,1.000(P),"-0.93,1.12(T,T)",0.0000(T),0.14,-1.419852,5.88,4.74,-0.978000,0.493000,3.518000,0.025000,0.987000,1.000000,5.4332
synonymous_variant,MAP4K4,SILENT,NM_145686.3:p.Glu418Glu/c.1254A>G,gaA/gaG,LOW,,0.131789,0.0982,rs1139583,,,,-1.0218(T),,chr2,102472459,102472459,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu418Glu/c.1254A>G|1239|MAP4K4|protein_coding|CODING|NM_001242559.1|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu418Glu/c.1254A>G|1235|MAP4K4|protein_coding|CODING|NM_001242560.1|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu418Glu/c.1254A>G|1165|MAP4K4|protein_coding|CODING|NM_004834.4|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu418Glu/c.1254A>G|1273|MAP4K4|protein_coding|CODING|NM_145686.3|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu418Glu/c.1254A>G|1212|MAP4K4|protein_coding|CODING|NM_145687.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1851,0.0879,0.1789,0.15,0.12,0.16,,,0.825(P),,0.0002(T),.,1.023658,4.29,-1.97,0.377000,-0.219000,0.324000,0.972000,0.305000,0.999000,8.4533
missense_variant,IL1R1,MISSENSE,NM_000877.3:p.Ala124Gly/c.371C>G,gCa/gGa,MODERATE,COSM4132930(1),0.0393371,0,rs2228139,0.35(T),"0.001,0.001,0.014(B,B,B)",0.755(N),-1.0175(T),,chr2,102781649,102781649,C,G,het,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala124Gly/c.371C>G|569|IL1R1|protein_coding|CODING|NM_000877.3|5|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala124Gly/c.371C>G|538|IL1R1|protein_coding|CODING|NM_001288706.1|5|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0092,0.0519,0.0795,0.06,0.05,0.06,,0.092696(N),1.000(P),"4.43,3.81,1.93,3.81,3.81,4.43,4.43,2.23(T,T,T,T,T,T,T,T)",0.0036(T),0.17,0.541904,5.87,1.26,0.655000,0.430000,-0.261000,0.007000,0.001000,0.000000,13.4945
missense_variant,IL1RL1,MISSENSE,NM_016232.4:p.Ala433Thr/c.1297G>A,Gca/Aca,MODERATE,COSM3757548(3),0.385383,0.126,rs4988956,0.08(T),0.201(B),2.095(M),-1.0974(T),,chr2,102968007,102968007,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala433Thr/c.1297G>A|556|IL1RL1|protein_coding|CODING|NM_016232.4|11|1),"HUVEC:DNase1,HSMM:H3K27me3",,,,0.2055,0.2853,0.4046,0.50,0.70,0.39,,0.029816(N),1.000(P),3.15(T),0.0000(T),0.024,1.729188,5.14,2.35,0.455000,0.186000,1.282000,0.681000,0.005000,0.014000,6.5963
synonymous_variant,IL1RL1,SILENT,NM_016232.4:p.Asn455Asn/c.1365T>C,aaT/aaC,LOW,COSM3757549(2),0.385383,0.125,rs4988957,,,,,,chr2,102968075,102968075,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn455Asn/c.1365T>C|556|IL1RL1|protein_coding|CODING|NM_016232.4|11|1),"HUVEC:DNase1,HSMM:H3K27me3",,,,0.2055,0.2867,0.4046,0.50,0.70,0.39,,,,,,,,,,,,,,,,
missense_variant,IL1RL1,MISSENSE,NM_016232.4:p.Gln501Lys/c.1501C>A,Cag/Aag,MODERATE,COSM3757550(2),0.381989,0.125,rs10192036,1(T),0.002(B),-0.29(N),-0.9088(T),,chr2,102968211,102968211,C,A,het,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln501Lys/c.1501C>A|556|IL1RL1|protein_coding|CODING|NM_016232.4|11|1),HSMM:H3K27me3,,,,0.2045,0.2853,0.4046,0.04,0.07,0.02,,0.655119(N),1.000(P),3.3(T),0.0000(T),0.015,-2.498675,4.86,-4.59,-1.610000,-1.047000,-0.392000,0.001000,0.069000,0.000000,20.7514
missense_variant,IL1RL1,MISSENSE,NM_016232.4:p.Gln501Arg/c.1502A>G,cAg/cGg,MODERATE,COSM3757551(2),0.381789,0.125,rs10204137,0.48(T),0.002(B),0.755(N),-0.9885(T),,chr2,102968212,102968212,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln501Arg/c.1502A>G|556|IL1RL1|protein_coding|CODING|NM_016232.4|11|1),HSMM:H3K27me3,,,,0.2045,0.2853,0.4046,0.05,0.10,0.03,,0.655119(N),1.000(P),3.21(T),0.0000(T),0.008,-1.219765,4.86,-0.566,-2.099000,-0.477000,0.037000,0.002000,0.077000,0.008000,10.3171
synonymous_variant,IL1RL1,SILENT,NM_016232.4:p.Ser525Ser/c.1575T>C,tcT/tcC,LOW,COSM3757552(2),0.385184,0.125,rs4988958,,,,,,chr2,102968285,102968285,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser525Ser/c.1575T>C|556|IL1RL1|protein_coding|CODING|NM_016232.4|11|1),HSMM:H3K27me3,,,,0.2055,0.2853,0.4046,0.50,0.70,0.39,,,,,,,,,,,,,,,,
missense_variant,IL1RL1,MISSENSE,NM_016232.4:p.Thr549Ile/c.1646C>T,aCt/aTt,MODERATE,COSM3757553(2),0.385184,0.125,rs10192157,0.19(T),0.023(B),0(N),-0.9366(T),,chr2,102968356,102968356,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr549Ile/c.1646C>T|556|IL1RL1|protein_coding|CODING|NM_016232.4|11|1),HSMM:H3K27me3,,,,0.2055,0.2853,0.4046,0.49,0.70,0.39,,0.095189(N),1.000(P),0.24(T),0.0000(T),0.04,1.921603,4.39,-0.89,0.555000,0.016000,-2.384000,0.613000,0.003000,0.000000,3.2389
missense_variant,IL1RL1,MISSENSE,NM_016232.4:p.Leu551Ser/c.1652T>C,tTg/tCg,MODERATE,COSM3766473(2),0.385184,0.125,rs10206753,0.15(T),0.02(B),1.385(L),-0.9101(T),,chr2,102968362,102968362,T,C,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu551Ser/c.1652T>C|556|IL1RL1|protein_coding|CODING|NM_016232.4|11|1),HSMM:H3K27me3,,,,0.2055,0.2853,0.4046,0.49,0.70,0.39,,0.000001(N),1.000(P),-0.02(T),0.0000(T),0.068,1.359577,3.6,1.12,0.254000,0.225000,0.179000,0.432000,0.284000,0.000000,3.9558
synonymous_variant,IL18R1,SILENT,NM_003855.3:p.Phe251Phe/c.753C>T,ttC/ttT,LOW,COSM4001107(1),0.25639,0.4196,rs1035130,,,,,,chr2,103001402,103001402,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe96Phe/c.288C>T|385|IL18R1|protein_coding|CODING|NM_001282399.1|7|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe251Phe/c.753C>T|541|IL18R1|protein_coding|CODING|NM_003855.3|7|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.1888,0.2505,0.23,0.16,0.27,,,,,,,,,,,,,,,,
synonymous_variant,SLC9A4,SILENT,NM_001011552.3:p.Ser121Ser/c.363G>A,tcG/tcA,LOW,COSM3757554(1),0.339058,0.2321,rs11692304,,,,,,chr2,103095404,103095404,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser121Ser/c.363G>A|798|SLC9A4|protein_coding|CODING|NM_001011552.3|2|1),"HUVEC:H3K27me3,K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3497,0.3314,0.5219,0.42,0.30,0.48,,,,,,,,,,,,,,,,
missense_variant,SLC9A4,MISSENSE,NM_001011552.3:p.Gly784Ser/c.2350G>A,Ggc/Agc,MODERATE,COSM3766476(1),0.622404,0.5308,rs1014286,0.53(T),0.001(B),0.11(N),-0.9766(T),,chr2,103149100,103149100,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly784Ser/c.2350G>A|798|SLC9A4|protein_coding|CODING|NM_001011552.3|12|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",Serum_protein_levels_sST2,,,0.5624,0.6816,0.675,0.64,0.64,0.64,,0.902670(N),1.000(P),1.07(T),0.0000(T),0.028,0.043156,5.52,-11.0,-1.084000,-2.116000,-0.514000,0.003000,0.000000,0.000000,9.557
synonymous_variant,MFSD9,SILENT,NM_032718.3:p.Gly445Gly/c.1335C>T,ggC/ggT,LOW,COSM3757556(1),0.410543,0.5714,rs1052431,,,,,,chr2,103334969,103334969,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly445Gly/c.1335C>T|474|MFSD9|protein_coding|CODING|NM_032718.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5184,0.3271,0.3539,0.31,0.28,0.32,,,,,,,,,,,,,,,,
missense_variant,TMEM182,MISSENSE,NM_144632.3:p.Trp223Arg/c.667T>C,Tgg/Cgg,MODERATE,,0.991613,1,rs887987,1(T),"0.0,0.0(B,B)",-1.735(N),-0.9708(T),,chr2,103431404,103431404,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp223Arg/c.667T>C|229|TMEM182|protein_coding|CODING|NM_144632.3|5|1),HepG2:H3K36me3,,,,0.9898,0.9914,0.9742,0.98,0.99,0.97,,0.000016(N),1.000(P),"1.39,1.38,1.41(T,T,T)",0.0000(T),0.08,-0.508161,6.1,2.93,-0.128000,0.418000,1.007000,0.939000,0.610000,0.368000,8.2822
synonymous_variant,POU3F3,SILENT,NM_006236.1:p.Ala29Ala/c.87T>C,gcT/gcC,LOW,,,,rs186512421,,,,,,chr2,105472055,105472055,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala29Ala/c.87T>C|500|POU3F3|protein_coding|CODING|NM_006236.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MRPS9,SILENT,NM_182640.2:p.Ser272Ser/c.816T>C,agT/agC,LOW,,0.983826,0.999,rs6543282,,,,,,chr2,105709023,105709023,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser272Ser/c.816T>C|396|MRPS9|protein_coding|CODING|NM_182640.2|8|1),"HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9949,0.9726,0.9463,0.97,0.99,0.96,,,,,,,,,,,,,,,,
missense_variant,TGFBRAP1,MISSENSE,NM_001142621.2:p.His725Arg/c.2174A>G,cAt/cGt,MODERATE,,0.502995,0.2827,rs2241797,0.66(T),"0.0,0.002(B,B)",-0.345(N),-0.9696(T),,chr2,105885961,105885961,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His725Arg/c.2174A>G|860|TGFBRAP1|protein_coding|CODING|NM_001142621.2|11|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His725Arg/c.2174A>G|860|TGFBRAP1|protein_coding|CODING|NM_004257.5|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5174,0.6383,0.66,0.59,0.49,0.65,,0.074427(N),1.000(P),"1.03,1.03(T,T)",0.0000(T),0.015,-0.976266,5.66,-6.99,-1.156000,-1.005000,-0.176000,0.024000,0.000000,0.000000,11.5638
synonymous_variant,TGFBRAP1,SILENT,NM_001142621.2:p.Leu645Leu/c.1935C>T,ctC/ctT,LOW,COSM4001112(1),0.116214,0.0804,rs11676273,,,,,,chr2,105889349,105889349,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu645Leu/c.1935C>T|860|TGFBRAP1|protein_coding|CODING|NM_001142621.2|10|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu645Leu/c.1935C>T|860|TGFBRAP1|protein_coding|CODING|NM_004257.5|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1155,0.2219,0.2207,0.15,0.04,0.21,,,,,,,,,,,,,,,,
synonymous_variant,FHL2,SILENT,NM_001039492.2:p.Pro273Pro/c.819C>T,ccC/ccT,LOW,COSM3757559(1),0.111422,0.0258,rs11124029,,,,,,chr2,105977761,105977761,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro273Pro/c.819C>T|279|FHL2|protein_coding|CODING|NM_001039492.2|7|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro273Pro/c.819C>T|279|FHL2|protein_coding|CODING|NM_001450.3|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro273Pro/c.819C>T|279|FHL2|protein_coding|CODING|NM_201555.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro273Pro/c.819C>T|279|FHL2|protein_coding|CODING|NM_201557.3|6|1)","H1ESC:H3K36me3,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000041653.1,,0.1155,0.1614,0.1988,0.16,0.10,0.20,,,,,,,,,,,,,,,,
synonymous_variant,ST6GAL2,SILENT,NM_001142351.1:p.Pro512Pro/c.1536C>T,ccC/ccT,LOW,COSM3757563(2),0.21845,0.0377,rs1470591,,,,-1.0716(T),,chr2,107423188,107423188,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro512Pro/c.1536C>T|529|ST6GAL2|protein_coding|CODING|NM_001142351.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro512Pro/c.1536C>T|529|ST6GAL2|protein_coding|CODING|NM_032528.2|6|1)",H1ESC:H3K36me3,,,,0.1339,0.3285,0.4533,0.38,0.22,0.46,,,0.000(P),,0.0000(T),.,-1.537599,5.8,-11.6,-5.073000,-5.603000,-5.699000,0.016000,0.002000,0.000000,5.7615
missense_variant,ST6GAL2,MISSENSE,NM_001142351.1:p.Leu511Val/c.1531C>G,Ctt/Gtt,MODERATE,,0.00299521,0,rs34558933,0.03(D),0.816(P),2.535(M),-0.5736(T),,chr2,107423193,107423193,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu511Val/c.1531C>G|529|ST6GAL2|protein_coding|CODING|NM_001142351.1|6|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu511Val/c.1531C>G|529|ST6GAL2|protein_coding|CODING|NM_032528.2|6|1)",H1ESC:H3K36me3,,,,0.002,0.0058,0.0089,0.01,0.00,0.01,,0.000000(D),1.000(D),"1.73,1.73(T,T)",0.2594(T),0.634,3.285944,5.8,3.99,0.655000,0.775000,2.446000,0.570000,0.989000,1.000000,7.7832
synonymous_variant,ST6GAL2,SILENT,NM_001142351.1:p.Ile443Ile/c.1329A>C,atA/atC,LOW,,0.409145,0.1726,rs1470590,,,,-0.9329(T),,chr2,107423395,107423395,T,G,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile443Ile/c.1329A>C|529|ST6GAL2|protein_coding|CODING|NM_001142351.1|6|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile443Ile/c.1329A>C|529|ST6GAL2|protein_coding|CODING|NM_032528.2|6|1)",H1ESC:H3K36me3,,,,0.3436,0.4654,0.6113,0.55,0.48,0.59,,,0.000(P),,0.0000(T),.,1.310325,5.56,2.8,-0.121000,0.062000,1.535000,0.980000,0.991000,1.000000,4.4342
synonymous_variant,SULT1C3,SILENT,NM_001008743.1:p.Val39Val/c.117A>C,gtA/gtC,LOW,,0.846645,0.8998,rs9308806,,,,,,chr2,108863767,108863767,A,C,hom,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val39Val/c.117A>C|304|SULT1C3|protein_coding|CODING|NM_001008743.1|1|1),,,,,0.7751,0.7882,0.7137,0.78,0.94,0.70,,,,,,,,,,,,,,,,
missense_variant,SULT1C3,MISSENSE,NM_001008743.1:p.Met194Thr/c.581T>C,aTg/aCg,MODERATE,COSM3757571(2),0.508387,0.7063,rs386604669,0.89(T),0.0(B),-1.02(N),-1.0642(T),,chr2,108875244,108875244,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met194Thr/c.581T>C|304|SULT1C3|protein_coding|CODING|NM_001008743.1|5|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.3548,0.4712,0.2753,0.39,0.62,0.28,,0.276760(N),1.000(P),"4.76,4.76(T,T)",0.0000(T),0.014,-1.294250,3.1,0.643,-1.292000,-0.292000,0.256000,0.004000,0.000000,0.000000,1.8776
missense_variant,GCC2,MISSENSE,NM_181453.3:p.Gln1134Glu/c.3400C>G,Caa/Gaa,MODERATE,,0.997404,1,rs2718698,1(T),0.0(B),-2.125(N),-0.9298(T),,chr2,109099572,109099572,C,G,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1134Glu/c.3400C>G|1684|GCC2|protein_coding|CODING|NM_181453.3|12|1),non_coding_exon_variant(MODIFIER|||n.3469C>G||GCC2||CODING|NR_028063.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9942,0.993,0.99,1.00,0.99,,0.000003(N),0.998(P),1.82(T),0.0000(T),0.133,0.012235,5.13,5.13,-0.335000,1.317000,3.611000,0.974000,1.000000,1.000000,16.1547
synonymous_variant,GCC2,SILENT,NM_181453.3:p.Gln1380Gln/c.4140A>G,caA/caG,LOW,,0.45647,0.8899,rs12104502,,,,,,chr2,109106381,109106381,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1380Gln/c.4140A>G|1684|GCC2|protein_coding|CODING|NM_181453.3|18|1),non_coding_exon_variant(MODIFIER|||n.4209A>G||GCC2||CODING|NR_028063.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.5879,0.3757,0.34,0.22,0.41,,,,,,,,,,,,,,,,
synonymous_variant,RANBP2,SILENT,NM_006267.4:p.Glu2751Glu/c.8253G>A,gaG/gaA,LOW,,0.98722,1,rs826580,,,,,,chr2,109389463,109389463,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2751Glu/c.8253G>A|3224|RANBP2|protein_coding|CODING|NM_006267.4|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.999,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CCDC138,SILENT,NM_144978.1:p.Ala305Ala/c.915T>A,gcT/gcA,LOW,COSM4001127(2),0.614417,0.8929,rs975597,,,,-1.0434(T),,chr2,109429146,109429146,T,A,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala305Ala/c.915T>A|665|CCDC138|protein_coding|CODING|NM_144978.1|8|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6012,0.7781,0.7555,0.61,0.31,0.76,,,0.000(P),,0.0000(T),.,1.301945,5.72,0.148,0.533000,0.074000,0.155000,0.997000,1.000000,0.998000,2.5354
synonymous_variant,EDAR,SILENT,NM_022336.3:p.Cys352Cys/c.1056C>T,tgC/tgT,LOW,,0.711861,0.9474,rs12623957,,,,,,chr2,109513654,109513654,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys352Cys/c.1056C>T|448|EDAR|protein_coding|CODING|NM_022336.3|12|1),"HUVEC:H3K27me3,CD4:H3K36me3,IMR90:H3K27me3",,,,0.7342,0.8429,0.837,0.70,0.44,0.83,,,,,,,,,,,,,,,,
synonymous_variant,EDAR,SILENT,NM_022336.3:p.Ser250Ser/c.750C>T,tcC/tcT,LOW,COSM3766486(1),0.921326,0.994,rs260632,,,,,,chr2,109526969,109526969,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser250Ser/c.750C>T|448|EDAR|protein_coding|CODING|NM_022336.3|9|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9162,0.9294,0.9085,0.90,0.88,0.90,,,,,,,,,,,,,,,,
missense_variant,SH3RF3,MISSENSE,NM_001099289.2:p.Ala15Thr/c.43G>A,Gcc/Acc,MODERATE,COSM4132981(1),0.124401,0.1022,rs34609468,0.02(D),0.757(P),,-1.0970(T),,chr2,109746039,109746039,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala15Thr/c.43G>A|882|SH3RF3|protein_coding|CODING|NM_001099289.2|1|1),non_coding_exon_variant(MODIFIER|||n.537C>T||SH3RF3-AS1||NON_CODING|NR_029193.1|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1421,0.1427,0.2435,,,,,,0.903(P),"0.42,2.16(T,T)",0.0000(T),0.337,5.331010,3.65,3.65,0.298000,1.579000,3.218000,0.923000,0.997000,0.976000,14.1116
synonymous_variant,SOWAHC,SILENT,NM_023016.3:p.Leu42Leu/c.126A>G,ctA/ctG,LOW,COSM3757577(6),1,1,rs6594048,,,,,,chr2,110372192,110372192,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu42Leu/c.126A>G|525|SOWAHC|protein_coding|CODING|NM_023016.3|1|1),upstream_gene_variant(MODIFIER||409||454|SEPT10|protein_coding|CODING|NM_144710.3||1),upstream_gene_variant(MODIFIER||409||431|SEPT10|protein_coding|CODING|NM_178584.2||1),upstream_gene_variant(MODIFIER||409|||SEPT10||CODING|NR_047585.1||1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HepG2:PolII,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,ACOXL,MISSENSE,NM_001142807.1:p.Lys575Arg/c.1724A>G,aAg/aGg,MODERATE,COSM3772395(1),0.00159744,0,,0.45(T),0.004(B),0.695(N),-0.8833(T),,chr2,111875374,111875374,A,G,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys575Arg/c.1724A>G|580|ACOXL|protein_coding|CODING|NM_001142807.1|18|1),"GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H3K4me3,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HeLa-S3:PolII,IMR90:H3K27me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0,0,0,,,,,,1.000(N),-1.55(D),0.2934(T),0.034,4.294078,4.51,2.15,0.454000,0.278000,0.827000,0.389000,0.002000,0.001000,5.7551
synonymous_variant,BCL2L11,SILENT,NM_138621.4:p.Ile155Ile/c.465T>C,atT/atC,LOW,,0.692492,0.8502,rs724710,,,,,,chr2,111907691,111907691,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile65Ile/c.195T>C|108|BCL2L11|protein_coding|CODING|NM_001204106.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile65Ile/c.195T>C|85|BCL2L11|protein_coding|CODING|NM_001204107.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile155Ile/c.465T>C|172|BCL2L11|protein_coding|CODING|NM_001204108.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile65Ile/c.195T>C|82|BCL2L11|protein_coding|CODING|NM_001204110.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile95Ile/c.285T>C|138|BCL2L11|protein_coding|CODING|NM_006538.4|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile155Ile/c.465T>C|198|BCL2L11|protein_coding|CODING|NM_138621.4|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile155Ile/c.465T>C|169|BCL2L11|protein_coding|CODING|NM_138622.3|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile95Ile/c.285T>C|109|BCL2L11|protein_coding|CODING|NM_138623.3|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile65Ile/c.195T>C|79|BCL2L11|protein_coding|CODING|NM_207003.2|3|1),3_prime_UTR_variant(MODIFIER||5613|c.*90T>C|135|BCL2L11|protein_coding|CODING|NM_138624.3|4|1),3_prime_UTR_variant(MODIFIER||19879|c.*83T>C|75|BCL2L11|protein_coding|CODING|NM_138625.3|4|1),intron_variant(MODIFIER|||c.125-14019T>C|45|BCL2L11|protein_coding|CODING|NM_138627.3|2|1),intron_variant(MODIFIER|||c.395-3666T>C|140|BCL2L11|protein_coding|CODING|NM_001204109.1|2|1),intron_variant(MODIFIER|||c.215-3666T>C|80|BCL2L11|protein_coding|CODING|NM_001204112.1|3|1),intron_variant(MODIFIER|||c.215-14019T>C|75|BCL2L11|protein_coding|CODING|NM_001204111.1|3|1),intron_variant(MODIFIER|||c.395-14019T>C|135|BCL2L11|protein_coding|CODING|NM_138626.3|2|1)","HUVEC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,K562:DNase1",,,,0.5429,0.5029,0.668,0.71,0.79,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ANAPC1,SILENT,NM_022662.3:p.Leu436Leu/c.1308A>G,ctA/ctG,LOW,COSM1631248(6),,,rs72936244,,,,,,chr2,112615933,112615933,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu436Leu/c.1308A>G|1944|ANAPC1|protein_coding|CODING|NM_022662.3|11|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MERTK,MISSENSE,NM_006343.2:p.Ser118Asn/c.353G>A,aGt/aAt,MODERATE,COSM4001134(1),0.168131,0.1726,rs13027171,0.41(T),0.001(B),-0.205(N),-1.0252(T),,chr2,112686988,112686988,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser118Asn/c.353G>A|999|MERTK|protein_coding|CODING|NM_006343.2|2|1),"HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000081390.1,,0.229,0.1844,0.2853,0.22,0.07,0.30,,0.620055(N),0.557(P),"-0.34,-0.34(T,T)",0.0000(T),0.003,-0.574024,4.13,-3.98,-0.484000,-0.649000,-0.287000,0.460000,0.020000,0.003000,11.6222
missense_variant,MERTK,MISSENSE,NM_006343.2:p.Arg466Lys/c.1397G>A,aGa/aAa,MODERATE,COSM3736212(4),0.561502,0.2758,rs7604639,1(T),0.0(B),-0.54(N),-0.9670(T),,chr2,112751928,112751928,G,A,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg466Lys/c.1397G>A|999|MERTK|protein_coding|CODING|NM_006343.2|9|1),"HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6196,0.6037,0.6243,0.63,0.65,0.63,,0.059590(N),1.000(P),"0.65,0.65,0.65(T,T,T)",0.0000(T),0.04,-1.237453,5.1,-3.17,-0.360000,-0.861000,-1.465000,0.104000,0.009000,0.000000,12.5621
synonymous_variant,MERTK,SILENT,NM_006343.2:p.Asn498Asn/c.1494C>T,aaC/aaT,LOW,COSM1398800(1),0.190495,0.1696,rs3811634,0.01(D),,,-1.0424(T),,chr2,112754943,112754943,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn498Asn/c.1494C>T|999|MERTK|protein_coding|CODING|NM_006343.2|10|1),"HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.2311,0.1888,0.2873,0.25,0.15,0.30,,,1.000(P),,0.0000(T),.,0.510703,5.87,1.35,0.655000,0.254000,-0.329000,0.881000,0.003000,0.000000,9.3383
missense_variant,MERTK,MISSENSE,NM_006343.2:p.Ile518Val/c.1552A>G,Att/Gtt,MODERATE,COSM3736213(4),0.561502,0.2758,rs2230515,0.89(T),0.001(B),-0.2(N),-0.9603(T),,chr2,112755001,112755001,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile518Val/c.1552A>G|999|MERTK|protein_coding|CODING|NM_006343.2|10|1),"HUVEC:H3K36me3,HMEC:H3K27me3,HepG2:H3K36me3",,,,0.6196,0.6037,0.6252,0.63,0.65,0.63,,0.403004(N),1.000(P),"-0.81,-0.81,-0.81(T,T,T)",0.0000(T),0.023,-1.164191,5.85,-2.03,-0.761000,-0.584000,-0.141000,0.316000,0.000000,0.002000,12.1572
synonymous_variant,MERTK,SILENT,NM_006343.2:p.Ser627Ser/c.1881A>G,tcA/tcG,LOW,COSM4001138(2),0.515176,0.2738,rs1131244,,,,,,chr2,112765973,112765973,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser627Ser/c.1881A>G|999|MERTK|protein_coding|CODING|NM_006343.2|14|1),"HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.6166,0.5951,0.6243,0.59,0.52,0.62,,,,,,,,,,,,,,,,
missense_variant,RGPD5,MISSENSE,NM_005054.2.2:p.Asp7Glu/c.21T>G,gaT/gaG,MODERATE,,0.0670927,0,rs13021601,1(T),"0.002,0.0(B,B)",-0.96(N),-1.0153(T),,chr2,113191010,113191010,A,C,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp7Glu/c.21T>G|1765|RGPD5|protein_coding|CODING|NM_005054.2.2|1|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp7Glu/c.21T>G|1765|RGPD8|protein_coding|CODING|NM_001164463.1|1|1)","NHEK:CTCF,NHEK:H3K9ac,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:HDAC2,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF",,,,0.135,0.0591,0.1561,,,,,,0.000(P),"1.15,0.54(T,T)",0.0001(T),0.113,-0.550964,1.79,0.621,-1.680000,0.082000,-0.089000,0.041000,0.987000,0.988000,3.8722
synonymous_variant,POLR1B,SILENT,NM_001282772.1:p.Thr271Thr/c.813T>A,acT/acA,LOW,COSM4001141(2),0.554113,0.4038,rs2304555,,,,,,chr2,113308516,113308516,T,A,het,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr177Thr/c.531T>A|1079|POLR1B|protein_coding|CODING|NM_001137604.2|4|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr271Thr/c.813T>A|1173|POLR1B|protein_coding|CODING|NM_001282772.1|6|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr233Thr/c.699T>A|952|POLR1B|protein_coding|CODING|NM_001282774.1|5|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr22Thr/c.66T>A|924|POLR1B|protein_coding|CODING|NM_001282776.1|2|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr94Thr/c.282T>A|996|POLR1B|protein_coding|CODING|NM_001282777.1|6|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr94Thr/c.282T>A|996|POLR1B|protein_coding|CODING|NM_001282779.1|5|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr233Thr/c.699T>A|1135|POLR1B|protein_coding|CODING|NM_019014.5|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.635,0.5562,0.6938,0.68,0.56,0.74,,,,,,,,,,,,,,,,
missense_variant,POLR1B,MISSENSE,NM_001282772.1:p.Ser333Leu/c.998C>T,tCg/tTg,MODERATE,COSM4001143(2),0.448283,0.4028,rs1545133,0.6(T),"0.001,0.006,0.001,0.001(B,B,B,B)",-0.255(N),-0.9315(T),,chr2,113309473,113309473,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser239Leu/c.716C>T|1079|POLR1B|protein_coding|CODING|NM_001137604.2|5|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser333Leu/c.998C>T|1173|POLR1B|protein_coding|CODING|NM_001282772.1|7|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser295Leu/c.884C>T|952|POLR1B|protein_coding|CODING|NM_001282774.1|6|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser84Leu/c.251C>T|924|POLR1B|protein_coding|CODING|NM_001282776.1|3|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser156Leu/c.467C>T|996|POLR1B|protein_coding|CODING|NM_001282777.1|7|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser156Leu/c.467C>T|996|POLR1B|protein_coding|CODING|NM_001282779.1|6|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser295Leu/c.884C>T|1135|POLR1B|protein_coding|CODING|NM_019014.5|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4693,0.5014,0.5726,0.54,0.42,0.60,,0.713739(N),1.000(P),"0.04,0.04,0.04,0.04,0.04(T,T,T,T,T)",0.0000(T),0.071,1.143968,5.21,-2.63,-0.930000,-0.479000,-0.090000,0.581000,0.761000,0.000000,5.5742
synonymous_variant,SLC20A1,SILENT,NM_005415.4:p.Leu101Leu/c.303G>A,ctG/ctA,LOW,COSM4001145(2),0.360623,0.2202,rs4849091,,,,,,chr2,113404708,113404708,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu101Leu/c.303G>A|679|SLC20A1|protein_coding|CODING|NM_005415.4|2|1),"CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,GM12878:Pbx3,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K36me3,CD4:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1",,,,0.5235,0.4481,0.5497,0.44,0.21,0.56,,,,,,,,,,,,,,,,
missense_variant,CKAP2L,MISSENSE,NM_152515.3:p.Leu614Ser/c.1841T>C,tTa/tCa,MODERATE,COSM3757580(2),0.422524,0.6895,rs3811040,0.73(T),"0.007,0.034(B,B)",0(N),-0.9758(T),,chr2,113498566,113498566,A,G,hom,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu614Ser/c.1841T>C|745|CKAP2L|protein_coding|CODING|NM_152515.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4632,0.5519,0.508,0.38,0.13,0.50,,0.144541(N),1.000(P),"2.06,2.06(T,T)",0.0000(T),0.076,-1.597170,4.43,-0.529,0.533000,-0.079000,-0.101000,0.368000,0.000000,0.000000,7.2134
missense_variant,CKAP2L,MISSENSE,NM_152515.3:p.Ile375Val/c.1123A>G,Ata/Gta,MODERATE,,0.963858,1,rs6731822,0.53(T),0.002(B),1.79(L),-0.9567(T),,chr2,113513825,113513825,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile375Val/c.1123A>G|745|CKAP2L|protein_coding|CODING|NM_152515.3|4|1),"CD4:H2AZ,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9847,0.9582,0.9513,0.94,0.93,0.95,,0.106738(N),1.000(P),"2.64,3.31(T,T)",0.0000(T),0.016,-0.620422,4.48,-7.88,-0.349000,-1.707000,-2.367000,0.005000,0.000000,0.000000,9.7267
missense_variant,CKAP2L,MISSENSE,NM_152515.3:p.Leu19Phe/c.55C>T,Ctt/Ttt,MODERATE,,0.0329473,0,rs36093393,0(D),0.998(D),2.125(M),-1.2045(T),,chr2,113520129,113520129,G,A,het,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu19Phe/c.55C>T|745|CKAP2L|protein_coding|CODING|NM_152515.3|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0327,0.062,0.0825,0.06,0.02,0.09,,0.000291(D),1.000(D),2.09(T),0.0070(T),0.335,4.139749,5.16,5.16,0.561000,2.692000,4.879000,0.866000,1.000000,1.000000,14.0027
missense_variant,IL1A,MISSENSE,NM_000575.3:p.Ala114Ser/c.340G>T,Gca/Tca,MODERATE,COSM3757583(2),0.217452,0.0734,rs17561,0.4(T),0.637(P),1.75(L),-0.9123(T),,chr2,113537223,113537223,C,A,het,missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala114Ser/c.340G>T|271|IL1A|protein_coding|CODING|NM_000575.3|5|1),"NHEK:PolII,HMEC:H3K36me3,NHEK:H3K36me3,HSMM:H3K27me3,NHEK:DNase1",,,,0.3272,0.2666,0.2873,0.26,0.18,0.30,,0.170990(N),1.000(P),2.28(T),0.0000(T),0.064,3.461982,4.44,4.44,0.650000,2.761000,2.817000,0.005000,0.009000,0.010000,12.8839
synonymous_variant,IL1B,SILENT,NM_000576.2:p.Phe105Phe/c.315C>T,ttC/ttT,LOW,COSM3757584(1),0.132788,0.0228,rs1143634,,,,,,chr2,113590390,113590390,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe105Phe/c.315C>T|269|IL1B|protein_coding|CODING|NM_000576.2|5|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NHEK:DNase1",,,,0.1472,0.1254,0.2475,0.20,0.14,0.24,,,,,,,,,,,,,,,,
missense_variant,IL37,MISSENSE,NM_014439.3:p.Gly31Val/c.92G>T,gGa/gTa,MODERATE,COSM4133010(1),0.60004,0.8115,rs3811046,0.83(T),"0.775,0.601(P,P)",0.895(L),-0.9404(T),,chr2,113671378,113671378,G,T,het,"missense_variant(MODERATE|MISSENSE|gGa/gTa|p.Gly31Val/c.92G>T|218|IL37|protein_coding|CODING|NM_014439.3|2|1),missense_variant(MODERATE|MISSENSE|gGa/gTa|p.Gly31Val/c.92G>T|178|IL37|protein_coding|CODING|NM_173204.1|2|1),upstream_gene_variant(MODIFIER||1392||192|IL37|protein_coding|CODING|NM_173205.1||1),intron_variant(MODIFIER|||c.82+707G>T|197|IL37|protein_coding|CODING|NM_173202.1|1|1),intron_variant(MODIFIER|||c.82+707G>T|157|IL37|protein_coding|CODING|NM_173203.1|1|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7117,0.7997,0.6998,0.56,0.28,0.71,,,1.000(P),"0.24,0.24(T,T)",0.0000(T),0.076,0.441596,2.78,1.89,0.552000,0.749000,1.500000,0.024000,0.002000,0.016000,5.5971
missense_variant,IL37,MISSENSE,NM_014439.3:p.Thr42Ala/c.124A>G,Acc/Gcc,MODERATE,COSM4133011(1),0.617412,0.8115,rs3811047,0.89(T),"0.0,0.0(B,B)",0(N),-0.9615(T),,chr2,113671410,113671410,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr42Ala/c.124A>G|218|IL37|protein_coding|CODING|NM_014439.3|2|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr42Ala/c.124A>G|178|IL37|protein_coding|CODING|NM_173204.1|2|1),upstream_gene_variant(MODIFIER||1360||192|IL37|protein_coding|CODING|NM_173205.1||1),intron_variant(MODIFIER|||c.82+739A>G|197|IL37|protein_coding|CODING|NM_173202.1|1|1),intron_variant(MODIFIER|||c.82+739A>G|157|IL37|protein_coding|CODING|NM_173203.1|1|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7117,0.8055,0.7008,0.57,0.32,0.70,,0.369998(N),1.000(P),"0.51,0.51(T,T)",0.0000(T),0.026,0.436359,2.78,1.6,-1.436000,0.068000,-0.665000,0.000000,0.000000,0.000000,3.5807
missense_variant,IL36A,MISSENSE,NM_014440.1:p.Gln12Arg/c.35A>G,cAg/cGg,MODERATE,COSM441014(2),0.840655,0.9901,rs386619900,0.53(T),0.0(B),0.345(N),-0.9931(T),,chr2,113763575,113763575,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln12Arg/c.35A>G|158|IL36A|protein_coding|CODING|NM_014440.1|2|1),HepG2:H3K27me3,,,,0.9274,0.8156,0.7247,0.73,0.77,0.70,,0.001070(N),1.000(P),2.29(T),0.0000(T),0.013,0.522839,4.9,-7.62,-4.544000,-2.239000,-2.459000,0.000000,0.000000,0.000000,0.7536
missense_variant,IL1F10,MISSENSE,NM_032556.5:p.Ile44Thr/c.131T>C,aTa/aCa,MODERATE,,0.522963,0.1796,rs6761276,0.21(T),"0.297,0.005(B,B)",1.59(L),-0.9611(T),,chr2,113832312,113832312,T,C,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile44Thr/c.131T>C|152|IL1F10|protein_coding|CODING|NM_032556.5|3|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile44Thr/c.131T>C|152|IL1F10|protein_coding|CODING|NM_173161.2|4|1)","H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",Protein_quantitative_trait_loci,,,0.6677,0.5821,0.6113,0.58,0.58,0.59,,0.017034(N),0.769(P),"1.92,2.9,1.92(T,T,T)",0.0000(T),0.073,2.618414,5.1,3.93,0.533000,0.887000,1.593000,0.865000,0.913000,0.338000,7.8998
missense_variant,IL1F10,MISSENSE,NM_032556.5:p.Ala51Asp/c.152C>A,gCc/gAc,MODERATE,,0.725439,0.6825,rs6743376,0.88(T),"0.0,0.0(B,B)",-1.805(N),-0.9939(T),,chr2,113832333,113832333,C,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala51Asp/c.152C>A|152|IL1F10|protein_coding|CODING|NM_032556.5|3|1),missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala51Asp/c.152C>A|152|IL1F10|protein_coding|CODING|NM_173161.2|4|1)","H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",Inflammatory_biomarkers,,,0.8027,0.7118,0.6938,0.68,0.73,0.66,,0.174979(N),1.000(P),"2.36,2.36,2.36(T,T,T)",0.0000(T),0.038,-0.247094,5.1,3.91,-0.256000,0.348000,2.133000,0.845000,0.960000,0.966000,5.7873
synonymous_variant,IL1RN,SILENT,NM_173841.2:p.Ser133Ser/c.399T>C,agT/agC,LOW,,0.35004,0.5556,rs315952,,,,,,chr2,113890304,113890304,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser112Ser/c.336T>C|159|IL1RN|protein_coding|CODING|NM_000577.4|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser133Ser/c.399T>C|180|IL1RN|protein_coding|CODING|NM_173841.2|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser130Ser/c.390T>C|177|IL1RN|protein_coding|CODING|NM_173842.2|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser96Ser/c.288T>C|143|IL1RN|protein_coding|CODING|NM_173843.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1493,0.2147,0.2803,0.33,0.44,0.28,,,,,,,,,,,,,,,,
missense_variant,DPP10,MISSENSE,NM_001178034.1:p.Ala344Pro/c.1030G>C,Gct/Cct,MODERATE,COSM441030(1),0.529353,0.7321,rs2053724,0.46(T),"0.002,0.0,0.005,0.004(B,B,B,B)",1.35(L),-1.0374(T),,chr2,116510817,116510817,G,C,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala333Pro/c.997G>C|789|DPP10|protein_coding|CODING|NM_001004360.3|11|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala344Pro/c.1030G>C|800|DPP10|protein_coding|CODING|NM_001178034.1|11|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala290Pro/c.868G>C|746|DPP10|protein_coding|CODING|NM_001178036.1|12|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala336Pro/c.1006G>C|792|DPP10|protein_coding|CODING|NM_001178037.1|11|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala340Pro/c.1018G>C|796|DPP10|protein_coding|CODING|NM_020868.3|11|1)",,,,,0.5787,0.732,0.6252,0.48,0.23,0.61,,0.002354(N),1.000(P),"1.6,1.6,1.6,1.6(T,T,T,T)",0.0000(T),0.063,1.237402,5.1,3.2,-0.127000,0.734000,1.938000,0.927000,0.991000,1.000000,17.1445
missense_variant,DPP10,MISSENSE,NM_001178034.1:p.Val405Ile/c.1213G>A,Gta/Ata,MODERATE,,0.96905,1,rs1446495,1(T),"0.001,0.001(B,B)",-1.675(N),-0.9566(T),,chr2,116525960,116525960,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val394Ile/c.1180G>A|789|DPP10|protein_coding|CODING|NM_001004360.3|13|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val405Ile/c.1213G>A|800|DPP10|protein_coding|CODING|NM_001178034.1|13|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val351Ile/c.1051G>A|746|DPP10|protein_coding|CODING|NM_001178036.1|14|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val397Ile/c.1189G>A|792|DPP10|protein_coding|CODING|NM_001178037.1|13|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val401Ile/c.1201G>A|796|DPP10|protein_coding|CODING|NM_020868.3|13|1)",,,,,1,0.9914,1,0.97,0.91,1.00,,0.000000(N),1.000(P),"1.81,1.81,1.81,1.81(T,T,T,T)",0.0000(T),0.209,0.832434,5.25,5.25,-0.254000,1.016000,6.278000,0.995000,1.000000,1.000000,10.2364
synonymous_variant,DDX18,SILENT,NM_006773.3:p.Arg539Arg/c.1617C>T,cgC/cgT,LOW,COSM3757595(2),0.303714,0.5298,rs2303348,,,,,,chr2,118583940,118583940,C,T,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg539Arg/c.1617C>T|670|DDX18|protein_coding|CODING|NM_006773.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3405,0.3242,0.3767,0.30,0.11,0.39,,,,,,,,,,,,,,,,
synonymous_variant,CCDC93,SILENT,NM_019044.4:p.Gly2Gly/c.6G>T,ggG/ggT,LOW,COSM1129600(2),0.320288,0.1409,rs11545372,,,,,,chr2,118771566,118771566,C,A,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly2Gly/c.6G>T|631|CCDC93|protein_coding|CODING|NM_019044.4|1|1),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.3057,0.2421,0.3459,0.36,0.42,0.33,,,,,,,,,,,,,,,,
synonymous_variant,EN1,SILENT,NM_001426.3:p.Ala163Ala/c.489G>A,gcG/gcA,LOW,COSM1238782(2),0.063099,0.0397,rs79126103,,,,,,chr2,119604255,119604255,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala163Ala/c.489G>A|392|EN1|protein_coding|CODING|NM_001426.3|1|1),"NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:DNase1",,,,0.0634,0.183,0.0497,0.04,0.02,0.05,,,,,,,,,,,,,,,,
synonymous_variant,C1QL2,SILENT,NM_182528.3:p.Val199Val/c.597A>G,gtA/gtG,LOW,,0.586462,0.3562,rs7556873,,,,,,chr2,119915249,119915249,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val199Val/c.597A>G|287|C1QL2|protein_coding|CODING|NM_182528.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5736,0.7695,0.7137,0.71,0.62,0.75,,,,,,,,,,,,,,,,
synonymous_variant,DBI,SILENT,NM_001178017.1:p.Arg39Arg/c.117A>G,cgA/cgG,LOW,COSM4133034(1),0.891374,0.8929,rs2084202,,,,,,chr2,120125029,120125029,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg39Arg/c.117A>G|148|DBI|protein_coding|CODING|NM_001178017.1|1|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg20Arg/c.60A>G|129|DBI|protein_coding|CODING|NM_001178041.2|2|1),upstream_gene_variant(MODIFIER||222||88|DBI|protein_coding|CODING|NM_001079863.1||1),upstream_gene_variant(MODIFIER||771||126|C2orf76|protein_coding|CODING|NM_001017927.2||1),intron_variant(MODIFIER|||c.-26-106A>G|104|DBI|protein_coding|CODING|NM_001282634.1|1|1),intron_variant(MODIFIER|||c.-21-111A>G|104|DBI|protein_coding|CODING|NM_001178042.2|1|1),intron_variant(MODIFIER|||c.9+393A>G|87|DBI|protein_coding|CODING|NM_001079862.2|1|1),intron_variant(MODIFIER|||c.-26-106A>G|104|DBI|protein_coding|CODING|NM_001282633.1|1|1),intron_variant(MODIFIER|||c.-21-111A>G|104|DBI|protein_coding|CODING|NM_020548.7|1|1),intron_variant(MODIFIER|||c.39+363A>G|97|DBI|protein_coding|CODING|NM_001178043.2|1|1),intron_variant(MODIFIER|||c.-26-106A>G|104|DBI|protein_coding|CODING|NM_001282635.1|1|1),intron_variant(MODIFIER|||c.-64+239A>G|63|DBI|protein_coding|CODING|NM_001282636.1|1|1),non_coding_exon_variant(MODIFIER|||n.406A>G||DBI||CODING|NR_104221.1|1|1)","NHEK:H3K9ac,HepG2:RXRA,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8722,0.8055,0.8579,,,,,,,,,,,,,,,,,,,
synonymous_variant,SCTR,SILENT,NM_002980.2:p.Asn392Asn/c.1176T>C,aaT/aaC,LOW,,0.871006,0.9107,rs1126839,,,,,,chr2,120199140,120199140,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn392Asn/c.1176T>C|440|SCTR|protein_coding|CODING|NM_002980.2|12|1),"GM12878:H3K36me3,HepG2:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9018,0.8271,0.8738,0.86,0.84,0.87,,,,,,,,,,,,,,,,
synonymous_variant,CFAP221,SILENT,NM_001271049.1:p.Pro214Pro/c.642G>A,ccG/ccA,LOW,,0.0233626,0.004,rs55809171,,,,,,chr2,120358804,120358804,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro214Pro/c.642G>A|840|CFAP221|protein_coding|CODING|NM_001271049.1|8|1),non_coding_exon_variant(MODIFIER|||n.768G>A||CFAP221||CODING|NR_073132.1|8|1),non_coding_exon_variant(MODIFIER|||n.667G>A||CFAP221||CODING|NR_073133.1|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0256,0.0331,0.0636,,,,,,,,,,,,,,,,,,,
synonymous_variant,CFAP221,SILENT,NM_001271049.1:p.Val431Val/c.1293T>C,gtT/gtC,LOW,,0.983826,0.9921,rs10864986,,,,,,chr2,120369300,120369300,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val431Val/c.1293T>C|840|CFAP221|protein_coding|CODING|NM_001271049.1|13|1),non_coding_exon_variant(MODIFIER|||n.1564T>C||CFAP221||CODING|NR_073132.1|14|1),non_coding_exon_variant(MODIFIER|||n.1318T>C||CFAP221||CODING|NR_073133.1|12|1)",,,,,1,0.9942,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,CFAP221,MISSENSE,NM_001271049.1:p.Val637Ile/c.1909G>A,Gtc/Atc,MODERATE,,0.976238,0.9921,rs2272058,0.64(T),"0.0,0.001(B,B)",-0.235(N),-1.0324(T),,chr2,120388412,120388412,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val637Ile/c.1909G>A|840|CFAP221|protein_coding|CODING|NM_001271049.1|19|1),non_coding_exon_variant(MODIFIER|||n.2180G>A||CFAP221||CODING|NR_073132.1|20|1),non_coding_exon_variant(MODIFIER|||n.1934G>A||CFAP221||CODING|NR_073133.1|18|1)","HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9928,1,0.98,0.93,1.00,,0.873348(N),1.000(P),1.59(T),0.0000(T),0.093,-0.352547,4.91,-8.37,-2.214000,-1.830000,-0.956000,0.067000,0.000000,0.000000,10.7877
missense_variant,TMEM177,MISSENSE,NM_001105198.1:p.Ile32Val/c.94A>G,Atc/Gtc,MODERATE,,0.778155,0.8284,rs13011768,0.58(T),"0.002,0.0(B,B)",0.95(L),-1.0349(T),,chr2,120438523,120438523,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile32Val/c.94A>G|311|TMEM177|protein_coding|CODING|NM_001105198.1|2|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile32Val/c.94A>G|311|TMEM177|protein_coding|CODING|NM_001105199.1|2|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile32Val/c.94A>G|311|TMEM177|protein_coding|CODING|NM_030577.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8599,0.8285,0.8439,0.77,0.63,0.84,,0.098822(N),0.908(P),"2.3,2.3,2.3,2.3,2.3(T,T,T,T,T)",0.0000(T),0.047,-0.786875,3.95,1.37,0.448000,0.283000,0.070000,0.024000,0.728000,0.100000,6.1104
synonymous_variant,TMEM177,SILENT,NM_001105198.1:p.Gln89Gln/c.267A>G,caA/caG,LOW,,0.980431,1,rs939777,,,,,,chr2,120438696,120438696,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln89Gln/c.267A>G|311|TMEM177|protein_coding|CODING|NM_001105198.1|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln89Gln/c.267A>G|311|TMEM177|protein_coding|CODING|NM_001105199.1|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln89Gln/c.267A>G|311|TMEM177|protein_coding|CODING|NM_030577.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,TMEM177,MISSENSE,NM_001105198.1:p.Asp267Glu/c.801C>G,gaC/gaG,MODERATE,,0.778155,0.8284,rs1983406,1(T),0.0(B),-0.55(N),-1.0537(T),,chr2,120439230,120439230,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp267Glu/c.801C>G|311|TMEM177|protein_coding|CODING|NM_001105198.1|2|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp267Glu/c.801C>G|311|TMEM177|protein_coding|CODING|NM_001105199.1|2|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp267Glu/c.801C>G|311|TMEM177|protein_coding|CODING|NM_030577.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8599,0.8285,0.8439,0.77,0.63,0.84,,0.841380(N),0.003(P),"1.07,1.07,1.07(T,T,T)",0.0000(T),0.007,-3.050185,4.6,-9.21,-2.521000,-5.322000,-1.924000,0.068000,0.000000,0.000000,3.8754
missense_variant,EPB41L5,MISSENSE,NM_020909.3:p.Ala462Thr/c.1384G>A,Gca/Aca,MODERATE,COSM3757600(2),0.590655,0.6736,rs1034489,1(T),"0.0,0.0,0.0(B,B,B)",-1.995(N),-0.9333(T),,chr2,120885310,120885310,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala462Thr/c.1384G>A|687|EPB41L5|protein_coding|CODING|NM_001184937.1|17|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala462Thr/c.1384G>A|733|EPB41L5|protein_coding|CODING|NM_020909.3|17|1)",HepG2:H3K36me3,,,,0.6033,0.6643,0.7266,0.63,0.45,0.72,,0.021175(N),0.000(P),"-1.31,-1.32,-1.3(T,T,T)",0.0000(T),0.107,-1.331396,5.25,1.73,-0.254000,0.198000,0.605000,0.054000,0.973000,0.962000,7.206
missense_variant,TMEM185B,MISSENSE,NM_024121.2:p.Ala42Gly/c.125C>G,gCc/gGc,MODERATE,COSM3766505(2),0.567692,0.6696,rs11550347,,,,,,chr2,120980428,120980428,G,C,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala42Gly/c.125C>G|350|TMEM185B|protein_coding|CODING|NM_024121.2|1|1),"H1ESC:H3K36me3,K562:Max,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,CD4:H2BK20ac,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,K562:SETDB1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,K562:Cmyc,IMR90:H3K36me3,K562:E2F6,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Yy1,H1ESC:H3K9me3,NHEK:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HeLa-S3:E2F6",,,,0.5859,0.6499,0.6829,,,,,,,,,,,,,,,,,,,
synonymous_variant,GLI2,SILENT,NM_005270.4:p.Ser267Ser/c.801G>A,tcG/tcA,LOW,,0.827276,0.999,rs2592595,0.99(T),0.01(B),,-0.9869(T),,chr2,121726447,121726447,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser267Ser/c.801G>A|1586|GLI2|protein_coding|CODING|NM_005270.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.9826,0.938,0.9801,0.81,0.47,0.98,,,0.000(P),,0.0000(T),.,0.626728,4.91,-9.82,-0.782000,-2.599000,-5.509000,0.127000,0.052000,0.000000,9.2055
missense_variant,GLI2,MISSENSE,NM_005270.4:p.Ala1156Ser/c.3466G>T,Gcc/Tcc,MODERATE,,0.508986,0.4722,rs3738880,,"0.018,0.058(B,B)",1.23(L),-1.0411(T),,chr2,121746956,121746956,G,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala1156Ser/c.3466G>T|1586|GLI2|protein_coding|CODING|NM_005270.4|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000081284.1,,0.4765,0.5836,0.7247,0.62,0.41,0.73,,0.609104(N),1.000(P),"2.53,2.53(T,T)",0.0000(T),0.025,-0.411771,4.87,0.0393,0.449000,-0.176000,-0.368000,0.760000,0.182000,0.000000,6.8098
missense_variant,GLI2,MISSENSE,NM_005270.4:p.Asp1306Asn/c.3916G>A,Gat/Aat,MODERATE,COSM3757603(1),0.567093,0.4712,rs12711538,,"0.0,0.0(B,B)",-1.935(N),-1.0282(T),,chr2,121747406,121747406,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp1306Asn/c.3916G>A|1586|GLI2|protein_coding|CODING|NM_005270.4|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000081285.1,,0.4826,0.5951,0.7247,0.68,0.58,0.73,,0.454393(N),1.000(P),"2.6,2.6(T,T)",0.0000(T),0.003,-1.502030,4.5,2.13,-0.556000,-0.006000,2.156000,0.685000,0.000000,0.006000,9.0523
synonymous_variant,GLI2,SILENT,NM_005270.4:p.Pro1313Pro/c.3939A>G,ccA/ccG,LOW,COSM3721935(1),0.51238,0.4762,rs10167980,,,,,,chr2,121747429,121747429,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1313Pro/c.3939A>G|1586|GLI2|protein_coding|CODING|NM_005270.4|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000081286.1,,0.4816,0.5865,0.7286,0.62,0.41,0.73,,,,,,,,,,,,,,,,
synonymous_variant,TFCP2L1,SILENT,NM_014553.2:p.Ile418Ile/c.1254C>T,atC/atT,LOW,COSM3757604(2),0.319888,0.3472,rs2304667,,,,,,chr2,121989489,121989489,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile418Ile/c.1254C>T|479|TFCP2L1|protein_coding|CODING|NM_014553.2|13|1),"HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3701,0.4135,0.504,0.40,0.14,0.53,,,,,,,,,,,,,,,,
synonymous_variant,CNTNAP5,SILENT,NM_130773.3:p.Asp179Asp/c.537T>C,gaT/gaC,LOW,COSM4001161(1),0.824281,0.8611,rs1425745,,,,,,chr2,125192068,125192068,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp179Asp/c.537T>C|1306|CNTNAP5|protein_coding|CODING|NM_130773.3|5|1),,,,,0.8221,0.8545,0.9642,0.89,0.72,0.97,,,,,,,,,,,,,,,,
missense_variant,GYPC,MISSENSE,NM_002101.4:p.Val61Ile/c.181G>A,Gtc/Atc,MODERATE,,0.00898562,0.002,rs111631066,1(T),"0.002,0.002(B,B)",-0.425(N),-0.9660(T),,chr2,127451514,127451514,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val40Ile/c.118G>A|107|GYPC|protein_coding|CODING|NM_001256584.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val61Ile/c.181G>A|128|GYPC|protein_coding|CODING|NM_002101.4|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val42Ile/c.124G>A|109|GYPC|protein_coding|CODING|NM_016815.3|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0029,0.0229,0.01,0.00,0.02,,,1.000(N),"2.64,2.09,2.68(T,T,T)",0.0060(T),0.086,-1.791592,4.02,1.62,-1.322000,0.052000,0.647000,0.002000,0.943000,0.611000,6.1299
synonymous_variant,GYPC,SILENT,NM_002101.4:p.Gly111Gly/c.333A>C,ggA/ggC,LOW,COSM4133042(1),0.615016,0.6806,rs1050967,,,,,,chr2,127453664,127453664,A,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly90Gly/c.270A>C|107|GYPC|protein_coding|CODING|NM_001256584.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly111Gly/c.333A>C|128|GYPC|protein_coding|CODING|NM_002101.4|4|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly92Gly/c.276A>C|109|GYPC|protein_coding|CODING|NM_016815.3|3|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4663,0.572,0.5497,0.60,0.69,0.55,,,,,,,,,,,,,,,,
synonymous_variant,BIN1,SILENT,NM_139343.2:p.Ser296Ser/c.888C>T,agC/agT,LOW,,0.00259585,0,rs114833236,,,,,,chr2,127816701,127816701,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser280Ser/c.840C>T|454|BIN1|protein_coding|CODING|NM_004305.3|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser296Ser/c.888C>T|593|BIN1|protein_coding|CODING|NM_139343.2|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser296Ser/c.888C>T|550|BIN1|protein_coding|CODING|NM_139344.2|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser296Ser/c.888C>T|506|BIN1|protein_coding|CODING|NM_139345.2|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser280Ser/c.840C>T|497|BIN1|protein_coding|CODING|NM_139346.2|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser265Ser/c.795C>T|518|BIN1|protein_coding|CODING|NM_139347.2|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser265Ser/c.795C>T|482|BIN1|protein_coding|CODING|NM_139348.2|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser265Ser/c.795C>T|475|BIN1|protein_coding|CODING|NM_139349.2|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser265Ser/c.795C>T|439|BIN1|protein_coding|CODING|NM_139350.2|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser265Ser/c.795C>T|409|BIN1|protein_coding|CODING|NM_139351.2|10|1)","H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3",,,,0.001,0.0043,0.0089,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,CYP27C1,SILENT,NM_001001665.3:p.Pro264Pro/c.792G>A,ccG/ccA,LOW,,0.00239617,0,rs138682404,,,,,,chr2,127951371,127951371,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro264Pro/c.792G>A|372|CYP27C1|protein_coding|CODING|NM_001001665.3|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K27me3",,,,0,0.0058,0.006,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,MAP3K2,SILENT,NM_006609.4:p.Ala287Ala/c.861T>C,gcT/gcC,LOW,COSM3757612(2),0.20647,0.0179,rs3732209,,,,,,chr2,128079806,128079806,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala287Ala/c.861T>C|619|MAP3K2|protein_coding|CODING|NM_006609.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2679,0.1729,0.2803,0.30,0.26,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PROC,SILENT,NM_000312.3:p.Ser141Ser/c.423G>T,tcG/tcT,LOW,COSM4133049(2),0.645767,0.5556,rs5936,,,,-1.0138(T),,chr2,128180872,128180872,G,T,het,"synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser141Ser/c.423G>T|461|PROC|protein_coding|CODING|NM_000312.3|6|1),downstream_gene_variant(MODIFIER||241|||MIR4783||NON_CODING|NR_039944.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,NHEK:H3K4me2,HSMM:H3K27me3,HMEC:H3K4me3",,,,0.4796,0.7795,0.6789,0.72,0.74,0.71,,,0.000(P),,0.0000(T),.,-0.351728,4.55,0.241,0.306000,0.152000,-1.840000,0.190000,0.678000,0.000000,0.7725
synonymous_variant,PROC,SILENT,NM_000312.3:p.Asp256Asp/c.768T>C,gaT/gaC,LOW,COSM4133050(1),0.229832,0.001,rs5937,,,,,,chr2,128184770,128184770,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp256Asp/c.768T>C|461|PROC|protein_coding|CODING|NM_000312.3|8|1),"HepG2:PolII,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.2434,0.2104,0.3052,0.32,0.32,0.33,,,,,,,,,,,,,,,,
synonymous_variant,MYO7B,SILENT,NM_001080527.1:p.Ser942Ser/c.2826G>A,tcG/tcA,LOW,COSM1399257(4),0.321086,0.1319,rs777432,,,,,,chr2,128367092,128367092,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser942Ser/c.2826G>A|2116|MYO7B|protein_coding|CODING|NM_001080527.1|23|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4407,0.2478,0.3857,0.35,0.34,0.35,,,,,,,,,,,,,,,,
missense_variant,MYO7B,MISSENSE,NM_001080527.1:p.Leu1152Val/c.3454C>G,Ctg/Gtg,MODERATE,COSM3757614(2),0.0646965,0.003,rs61744148,0.64(T),0.848(P),0.6(N),-0.7016(T),,chr2,128379563,128379563,C,G,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu1152Val/c.3454C>G|2116|MYO7B|protein_coding|CODING|NM_001080527.1|27|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1022,0.0735,0.1551,0.08,0.02,0.11,,0.000707(D),0.966(P),"-2.92,-2.92,-2.92,-2.78,-2.2(D,D,D,D,D)",0.0150(T),0.14,1.279506,4.92,3.03,0.561000,0.418000,1.294000,0.559000,0.999000,1.000000,9.0327
synonymous_variant,MYO7B,SILENT,NM_001080527.1:p.His1294His/c.3882C>T,caC/caT,LOW,COSM1129584(4),0.162939,0.1448,rs13422424,,,,,,chr2,128381808,128381808,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1294His/c.3882C>T|2116|MYO7B|protein_coding|CODING|NM_001080527.1|29|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2638,0.1196,0.2038,0.15,0.11,0.17,,,,,,,,,,,,,,,,
synonymous_variant,MYO7B,SILENT,NM_001080527.1:p.Glu1623Glu/c.4869G>A,gaG/gaA,LOW,COSM441096(3),0.168131,0.1349,rs13025791,,,,,,chr2,128388790,128388790,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1623Glu/c.4869G>A|2116|MYO7B|protein_coding|CODING|NM_001080527.1|36|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3589,0.1239,0.2018,0.15,0.07,0.19,,,,,,,,,,,,,,,,
missense_variant,MYO7B,MISSENSE,NM_001080527.1:p.Glu1647Asp/c.4941G>C,gaG/gaC,MODERATE,COSM3757616(2),0.168131,0.1349,rs13025959,0.35(T),0.276(B),1.47(L),-1.0542(T),,chr2,128388862,128388862,G,C,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu1647Asp/c.4941G>C|2116|MYO7B|protein_coding|CODING|NM_001080527.1|36|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3589,0.1239,0.2018,0.15,0.08,0.19,,0.000001(D),0.001(P),"-0.28,-0.28,-0.28,-0.28(T,T,T,T)",0.0002(T),0.422,1.855954,5.77,4.89,0.655000,1.447000,2.170000,0.084000,0.999000,1.000000,6.7962
synonymous_variant,MYO7B,SILENT,NM_001080527.1:p.Tyr1982Tyr/c.5946T>C,taT/taC,LOW,COSM4001163(1),0.21905,0.1458,rs2255161,,,,,,chr2,128393800,128393800,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1982Tyr/c.5946T>C|2116|MYO7B|protein_coding|CODING|NM_001080527.1|44|1),"H1ESC:H3K36me3,CD4:H4K91ac,CD4:H3K4me1,HepG2:H3K27me3",,,,0.4213,0.1369,0.1968,0.19,0.19,0.19,,,,,,,,,,,,,,,,
missense_variant,MYO7B,MISSENSE,NM_001080527.1:p.Gln2105Arg/c.6314A>G,cAg/cGg,MODERATE,COSM330409(2),0.206669,0.1865,rs11686946,0.19(T),0.115(B),1.67(L),-1.0958(T),,chr2,128394955,128394955,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln2105Arg/c.6314A>G|2116|MYO7B|protein_coding|CODING|NM_001080527.1|47|1),downstream_gene_variant(MODIFIER||1041||363|LIMS2|protein_coding|CODING|NM_001136037.2||1),downstream_gene_variant(MODIFIER||1041||341|LIMS2|protein_coding|CODING|NM_001161403.1||1),downstream_gene_variant(MODIFIER||1041||336|LIMS2|protein_coding|CODING|NM_001161404.1||1),downstream_gene_variant(MODIFIER||1041||189|LIMS2|protein_coding|CODING|NM_001256542.1||1),downstream_gene_variant(MODIFIER||1041||365|LIMS2|protein_coding|CODING|NM_017980.4||1)","CD4:H4K91ac,HUVEC:H3K9ac,CD4:H3K27ac,HUVEC:DNase1,CD4:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.4223,0.1239,0.1968,0.17,0.12,0.19,,0.359206(N),0.425(P),"-2.29,-2.29,-2.29,-2.1(D,D,D,D)",0.0009(T),0.088,2.406269,3.81,2.65,0.528000,0.819000,6.232000,0.041000,0.259000,1.000000,8.2599
synonymous_variant,LIMS2,SILENT,NM_017980.4:p.Lys157Lys/c.471G>A,aaG/aaA,LOW,COSM3766509(2),0.545128,0.7113,rs4662751,,,,,,chr2,128400608,128400608,C,T,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys155Lys/c.465G>A|363|LIMS2|protein_coding|CODING|NM_001136037.2|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys133Lys/c.399G>A|341|LIMS2|protein_coding|CODING|NM_001161403.1|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys128Lys/c.384G>A|336|LIMS2|protein_coding|CODING|NM_001161404.1|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys157Lys/c.471G>A|365|LIMS2|protein_coding|CODING|NM_017980.4|5|1),5_prime_UTR_variant(MODIFIER||58|c.-58G>A|189|LIMS2|protein_coding|CODING|NM_001256542.1|2|1)","CD4:H4K91ac,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3957,0.6527,0.5427,0.51,0.46,0.53,,,,,,,,,,,,,,,,
synonymous_variant,WDR33,SILENT,NM_018383.4:p.Gly376Gly/c.1128G>T,ggG/ggT,LOW,,,,,,,,,,chr2,128481975,128481975,C,A,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly376Gly/c.1128G>T|1336|WDR33|protein_coding|CODING|NM_018383.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,UGGT1,SILENT,NM_020120.3:p.Asn224Asn/c.672T>C,aaT/aaC,LOW,,0.823283,0.8512,rs4662775,,,,,,chr2,128870808,128870808,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn224Asn/c.672T>C|1555|UGGT1|protein_coding|CODING|NM_020120.3|6|1),non_coding_exon_variant(MODIFIER|||n.1003T>C||UGGT1||CODING|NR_027671.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8047,0.9035,0.9801,0.89,0.73,0.97,,,,,,,,,,,,,,,,
synonymous_variant,UGGT1,SILENT,NM_020120.3:p.Lys319Lys/c.957G>A,aaG/aaA,LOW,,0.834864,0.8522,rs4662594,,,,,,chr2,128878014,128878014,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys319Lys/c.957G>A|1555|UGGT1|protein_coding|CODING|NM_020120.3|9|1),non_coding_exon_variant(MODIFIER|||n.1288G>A||UGGT1||CODING|NR_027671.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8047,0.9063,0.9801,0.90,0.75,0.97,,,,,,,,,,,,,,,,
missense_variant,HS6ST1,MISSENSE,NM_004807.2:p.Arg249Ser/c.745C>A,Cgc/Agc,MODERATE,COSM228870(6),,,rs3958533,,0.995(D),3.045(M),-0.9047(T),,chr2,129026227,129026227,G,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg249Ser/c.745C>A|411|HS6ST1|protein_coding|CODING|NM_004807.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),-0.97(T),0.0078(T),0.978,4.792392,5.06,5.06,0.462000,2.346000,5.939000,0.996000,1.000000,1.000000,18.424
synonymous_variant,HS6ST1,SILENT,NM_004807.2:p.Thr59Thr/c.177A>G,acA/acG,LOW,COSM3836798(4),0.723442,0.8304,rs61732881,,,,,,chr2,129075961,129075961,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr59Thr/c.177A>G|411|HS6ST1|protein_coding|CODING|NM_004807.2|1|1),"K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4581,0.7839,0.6044,,,,,,,,,,,,,,,,,,,
missense_variant,HS6ST1,MISSENSE,NM_004807.2:p.Ser41Thr/c.122G>C,aGc/aCc,MODERATE,COSM3749595(2),0.0249601,0.004,rs201154532,,0.027(B),0.345(N),-0.7431(T),,chr2,129076016,129076016,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser41Thr/c.122G>C|411|HS6ST1|protein_coding|CODING|NM_004807.2|1|1),"K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0481,0.0173,0.0537,,,,,0.000008(U),0.904(D),-1.64(D),0.2519(T),0.087,1.525451,3.16,3.16,0.313000,1.600000,2.610000,0.928000,1.000000,1.000000,6.0589
missense_variant,RAB6C,MISSENSE,NM_032144.2:p.Ala159Thr/c.475G>A,Gct/Act,MODERATE,COSM3757619(4),0.577077,0.6101,rs144773989,0.65(T),0.006(B),-1.99(N),-0.9452(T),,chr2,130738163,130738163,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala159Thr/c.475G>A|254|RAB6C|protein_coding|CODING|NM_032144.2|1|1),upstream_gene_variant(MODIFIER||118|||RAB6C-AS1||NON_CODING|NR_036537.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,GM12878:SP1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:PU1,HepG2:H3K27me3,GM12878:PU1,K562:SP1",,,,0.6718,0.6859,0.6928,,,,,,0.007(P),-1.03(T),0.0875(T),0.055,1.051337,0.652,-0.869,0.121000,-0.306000,0.594000,0.305000,0.004000,0.960000,5.2636
missense_variant,CCDC74B,MISSENSE,NM_207310.2:p.Arg346His/c.1037G>A,cGt/cAt,MODERATE,,0.374002,0.4435,rs3177472,0.44(T),"0.214,0.015,0.027(B,B,B)",1.1(L),-0.9032(T),,chr2,130897234,130897234,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg280His/c.839G>A|314|CCDC74B|protein_coding|CODING|NM_001258307.1|8|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg346His/c.1037G>A|380|CCDC74B|protein_coding|CODING|NM_207310.2|8|1),downstream_gene_variant(MODIFIER||248|||MED15P9||NON_CODING|NR_033903.1||1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.4356,0.4294,0.3489,0.34,0.29,0.36,,,0.000(P),"1.4,1.4,1.4(T,T,T)",0.0000(T),0.198,0.434632,4.68,3.81,0.455000,1.105000,1.024000,0.017000,0.013000,0.009000,10.9461
missense_variant,CCDC74B,MISSENSE,NM_207310.2:p.Val309Ala/c.926T>C,gTc/gCc,MODERATE,COSM3734102(4),0.363818,0.3839,rs2259332,0.35(T),,-0.715(N),-0.9622(T),,chr2,130897620,130897620,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val243Ala/c.728T>C|314|CCDC74B|protein_coding|CODING|NM_001258307.1|6|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val309Ala/c.926T>C|380|CCDC74B|protein_coding|CODING|NM_207310.2|6|1),downstream_gene_variant(MODIFIER||634|||MED15P9||NON_CODING|NR_033903.1||1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.411,0.4107,0.3032,,,,,,1.000(P),,0.0000(T),.,-3.455399,2.15,0.0767,-1.964000,-0.593000,0.033000,0.003000,0.011000,0.000000,3.125
missense_variant,CCDC74B,MISSENSE,NM_207310.2:p.His149Arg/c.446A>G,cAt/cGt,MODERATE,COSM3766514(5),,,rs138331089,0.86(T),"0.079,0.042(B,B)",0.49(N),-0.9653(T),,chr2,130899804,130899804,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His149Arg/c.446A>G|380|CCDC74B|protein_coding|CODING|NM_207310.2|3|1),intron_variant(MODIFIER|||c.296-48A>G|314|CCDC74B|protein_coding|CODING|NM_001258307.1|2|1)","H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(P),"2.1,2.0(T,T)",0.0000(T),0.213,-1.929685,2.75,-1.77,-0.971000,-0.072000,-4.057000,0.020000,0.000000,0.000000,2.9934
synonymous_variant,CCDC74B,SILENT,NM_207310.2:p.Ala7Ala/c.21G>A,gcG/gcA,LOW,COSM4133070(1),0.360224,0.4415,rs34080706,,,,-0.9061(T),,chr2,130902549,130902549,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala7Ala/c.21G>A|314|CCDC74B|protein_coding|CODING|NM_001258307.1|1|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala7Ala/c.21G>A|380|CCDC74B|protein_coding|CODING|NM_207310.2|1|1)","K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.4427,0.4366,0.3419,,,,,,0.974(P),,0.0000(T),.,-0.826071,2.22,-0.925,-0.794000,-0.095000,-0.920000,0.004000,0.006000,0.001000,5.0382
synonymous_variant,SMPD4,SILENT,NM_017951.4:p.Thr284Thr/c.852G>A,acG/acA,LOW,,0.359824,0.4405,rs10909567,,,,-0.9497(T),,chr2,130925088,130925088,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr211Thr/c.633G>A|764|SMPD4|protein_coding|CODING|NM_001171083.2|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr284Thr/c.852G>A|837|SMPD4|protein_coding|CODING|NM_017751.4|9|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr284Thr/c.852G>A|866|SMPD4|protein_coding|CODING|NM_017951.4|9|1),non_coding_exon_variant(MODIFIER|||n.2001G>A||SMPD4||CODING|NR_033230.2|9|1),non_coding_exon_variant(MODIFIER|||n.865G>A||SMPD4||CODING|NR_033231.2|8|1),non_coding_exon_variant(MODIFIER|||n.932G>A||SMPD4||CODING|NR_033232.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.4366,0.3429,0.33,0.26,0.36,,,0.000(P),,0.0000(T),.,1.280335,3.87,-6.91,-1.263000,-0.789000,-3.081000,0.950000,0.989000,0.000000,7.5421
missense_variant,TUBA3E,MISSENSE,NM_207312.2:p.Ala449Glu/c.1346C>A,gCa/gAa,MODERATE,,0.979433,1,rs10208844,1(T),0.0(B),-2.77(N),-0.9578(T),,chr2,130949411,130949411,G,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala449Glu/c.1346C>A|450|TUBA3E|protein_coding|CODING|NM_207312.2|5|1),downstream_gene_variant(MODIFIER||1111||158|MZT2B|protein_coding|CODING|NM_025029.3||1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9908,0.9654,0.9324,0.95,0.98,0.93,,0.000323(N),0.999(P),-0.86(T),0.0000(T),0.172,-0.356398,2.64,2.64,-0.544000,0.259000,4.403000,0.060000,0.157000,0.997000,7.1132
synonymous_variant,TUBA3E,SILENT,NM_207312.2:p.Arg422Arg/c.1266C>T,cgC/cgT,LOW,COSM4133071(1),,,rs60154251,,,,,,chr2,130949491,130949491,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg422Arg/c.1266C>T|450|TUBA3E|protein_coding|CODING|NM_207312.2|5|1),downstream_gene_variant(MODIFIER||1191||158|MZT2B|protein_coding|CODING|NM_025029.3||1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.38,0.36,0.39,,,,,,,,,,,,,,,,
missense_variant,TUBA3E,MISSENSE,NM_207312.2:p.Trp402Arg/c.1204T>C,Tgg/Cgg,MODERATE,,,,rs1052422,1(T),0.0(B),-3.915(N),-0.9029(T),,chr2,130949553,130949553,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp402Arg/c.1204T>C|450|TUBA3E|protein_coding|CODING|NM_207312.2|5|1),downstream_gene_variant(MODIFIER||1253||158|MZT2B|protein_coding|CODING|NM_025029.3||1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.17,0.17,0.17,,0.000396(N),1.000(P),-1.37(T),0.0000(T),0.098,0.346565,2.96,1.1,-0.374000,-0.126000,0.724000,0.972000,0.996000,0.997000,6.884
synonymous_variant,TUBA3E,SILENT,NM_207312.2:p.His309His/c.927T>C,caT/caC,LOW,,,,rs2443644,,,,,,chr2,130951488,130951488,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His309His/c.927T>C|450|TUBA3E|protein_coding|CODING|NM_207312.2|4|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA3E,SILENT,NM_207312.2:p.Ala289Ala/c.867C>T,gcC/gcT,LOW,COSM4133073(1),,,rs1052319,,,,,,chr2,130951548,130951548,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala289Ala/c.867C>T|450|TUBA3E|protein_coding|CODING|NM_207312.2|4|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA3E,SILENT,NM_207312.2:p.His283His/c.849C>T,caC/caT,LOW,COSM4133074(1),,,rs7340193,,,,,,chr2,130951566,130951566,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His283His/c.849C>T|450|TUBA3E|protein_coding|CODING|NM_207312.2|4|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA3E,SILENT,NM_207312.2:p.Ala278Ala/c.834T>C,gcT/gcC,LOW,COSM4133075(1),0.46885,0.4365,rs1052312,,,,,,chr2,130951581,130951581,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala278Ala/c.834T>C|450|TUBA3E|protein_coding|CODING|NM_207312.2|4|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4284,0.5014,0.3628,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA3E,SILENT,NM_207312.2:p.Ser277Ser/c.831A>G,tcA/tcG,LOW,,0.46885,0.4365,rs7340507,,,,,,chr2,130951584,130951584,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser277Ser/c.831A>G|450|TUBA3E|protein_coding|CODING|NM_207312.2|4|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4284,0.5014,0.3628,0.41,0.52,0.35,,,,,,,,,,,,,,,,
missense_variant,TUBA3E,MISSENSE,NM_207312.2:p.Arg221Ser/c.661C>A,Cgt/Agt,MODERATE,,,,rs13000249,0(D),0.619(P),1.655(L),-0.9636(T),,chr2,130951754,130951754,G,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg221Ser/c.661C>A|450|TUBA3E|protein_coding|CODING|NM_207312.2|4|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.000204(U),0.001(P),-0.36(T),0.0000(T),0.625,0.244819,2.92,2.03,0.449000,0.584000,2.977000,0.183000,0.999000,1.000000,7.8744
synonymous_variant,TUBA3E,SILENT,NM_207312.2:p.Tyr103Tyr/c.309C>T,taC/taT,LOW,,0.413339,0.4425,rs3853852,,,,,,chr2,130952718,130952718,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr103Tyr/c.309C>T|450|TUBA3E|protein_coding|CODING|NM_207312.2|3|1),K562:DNase1,,,,0.4448,0.4827,0.3698,,,,,,,,,,,,,,,,,,,
missense_variant,TUBA3E,MISSENSE,NM_207312.2:p.Ser101Asn/c.302G>A,aGt/aAt,MODERATE,COSM4133077(1),0.545327,0.4425,rs3863907,1(T),0.0(B),-3.66(N),-0.9145(T),,chr2,130952725,130952725,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser101Asn/c.302G>A|450|TUBA3E|protein_coding|CODING|NM_207312.2|3|1),K562:DNase1,,,,0.4458,0.5216,0.3787,,,,,0.000066(N),1.000(P),0.05(T),0.0000(T),0.149,0.821757,2.95,2.95,-0.556000,0.350000,4.020000,0.492000,0.960000,1.000000,6.4475
missense_variant,GPR148,MISSENSE,NM_207364.2:p.Thr317Pro/c.949A>C,Aca/Cca,MODERATE,,0.954872,0.999,rs272128,0.25(T),0.0(B),-0.805(N),-0.9897(T),,chr2,131487673,131487673,A,C,hom,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr317Pro/c.949A>C|347|GPR148|protein_coding|CODING|NM_207364.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9356,0.9524,0.9175,0.94,0.96,0.93,,0.000049(N),0.999(P),2.52(T),0.0000(T),0.068,-0.634685,3.31,3.31,-0.225000,0.521000,1.612000,0.580000,0.310000,0.891000,9.867
missense_variant,AMER3,MISSENSE,NM_001105193.1:p.Ala178Gly/c.533C>G,gCg/gGg,MODERATE,,0.125399,0.1379,rs77687733,0.31(T),0.313(B),0.55(N),-1.0794(T),,chr2,131520178,131520178,C,G,het,"missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala178Gly/c.533C>G|861|AMER3|protein_coding|CODING|NM_001105193.1|2|1),missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala178Gly/c.533C>G|861|AMER3|protein_coding|CODING|NM_001105194.1|2|1),missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala178Gly/c.533C>G|861|AMER3|protein_coding|CODING|NM_152698.2|2|1),missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala178Gly/c.533C>G|861|AMER3|protein_coding|CODING|NM_001105195.1|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0941,0.2839,0.1879,0.12,0.04,0.17,,0.837120(N),1.000(P),"0.84,0.84(T,T)",0.0000(T),0.084,0.276733,5.21,-4.14,-0.310000,-0.631000,-0.164000,0.001000,0.000000,0.000000,4.3062
missense_variant,AMER3,MISSENSE,NM_001105193.1:p.Ser340Pro/c.1018T>C,Tcc/Ccc,MODERATE,COSM3757623(1),0.993411,1,rs1905235,1(T),0.0(B),-1.385(N),-0.9873(T),,chr2,131520663,131520663,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser340Pro/c.1018T>C|861|AMER3|protein_coding|CODING|NM_001105193.1|2|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser340Pro/c.1018T>C|861|AMER3|protein_coding|CODING|NM_001105194.1|2|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser340Pro/c.1018T>C|861|AMER3|protein_coding|CODING|NM_152698.2|2|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser340Pro/c.1018T>C|861|AMER3|protein_coding|CODING|NM_001105195.1|2|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.998,0.9928,0.9742,0.98,0.99,0.97,,0.957937(N),1.000(P),"2.23,2.23(T,T)",0.0000(T),0.015,-2.853133,4.68,0.659,-2.304000,-0.465000,-0.168000,0.001000,0.000000,0.000000,2.4979
synonymous_variant,TUBA3D,SILENT,NM_080386.3:p.Thr239Thr/c.717A>G,acA/acG,LOW,COSM3773937(3),,,rs6423208,,,,,,chr2,132237983,132237983,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr239Thr/c.717A>G|450|TUBA3D|protein_coding|CODING|NM_080386.3|4|1),intron_variant(MODIFIER|||n.20+34883A>G||RNU6-81P||NON_CODING|NR_046946.1|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA3D,SILENT,NM_080386.3:p.Gln301Gln/c.903A>G,caA/caG,LOW,COSM3757630(3),,,rs2463337,,,,,,chr2,132238169,132238169,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln301Gln/c.903A>G|450|TUBA3D|protein_coding|CODING|NM_080386.3|4|1),intron_variant(MODIFIER|||n.20+35069A>G||RNU6-81P||NON_CODING|NR_046946.1|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA3D,SILENT,NM_080386.3:p.Thr340Thr/c.1020C>T,acC/acT,LOW,COSM3757631(3),0.167532,0.004,rs111626841,,,,,,chr2,132238286,132238286,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr340Thr/c.1020C>T|450|TUBA3D|protein_coding|CODING|NM_080386.3|4|1),intron_variant(MODIFIER|||n.20+35186C>T||RNU6-81P||NON_CODING|NR_046946.1|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0644,0.1037,0.0924,0.19,0.39,0.08,,,,,,,,,,,,,,,,
missense_variant,MZT2A,MISSENSE,NM_001085365.1:p.Arg136His/c.407G>A,cGc/cAc,MODERATE,,0.167931,0.004,rs11553182,0.1(T),0.012(B),1.955(M),-0.9323(T),,chr2,132241704,132241704,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg136His/c.407G>A|158|MZT2A|protein_coding|CODING|NM_001085365.1|3|1),downstream_gene_variant(MODIFIER||1197||450|TUBA3D|protein_coding|CODING|NM_080386.3||1),intron_variant(MODIFIER|||n.20+38604C>T||RNU6-81P||NON_CODING|NR_046946.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0644,0.1037,0.0924,0.20,0.40,0.09,,0.000008(D),0.002(P),0.85(T),0.0000(T),0.171,2.104319,2.4,2.4,0.430000,1.337000,3.776000,0.062000,0.985000,1.000000,10.5091
missense_variant,MZT2A,MISSENSE,NM_001085365.1:p.His127Arg/c.380A>G,cAc/cGc,MODERATE,COSM3757632(1),0.167931,0.004,rs75021268,1(T),0.0(B),-1.955(N),-0.9356(T),,chr2,132241731,132241731,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His127Arg/c.380A>G|158|MZT2A|protein_coding|CODING|NM_001085365.1|3|1),downstream_gene_variant(MODIFIER||1224||450|TUBA3D|protein_coding|CODING|NM_080386.3||1),intron_variant(MODIFIER|||n.20+38631T>C||RNU6-81P||NON_CODING|NR_046946.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0644,0.1037,0.0924,0.20,0.41,0.09,,0.000065(N),1.000(P),2.26(T),0.0000(T),0.012,-3.004465,2.23,1.32,-1.160000,-0.092000,2.095000,0.006000,0.044000,0.962000,6.2716
missense_variant,CCDC74A,MISSENSE,NM_138770.2:p.Gly302Arg/c.904G>A,Ggg/Agg,MODERATE,COSM1318182(2),0.122804,0.004,rs13660,0.04(D),"0.007,0.004(B,B)",1.95(M),-1.0292(T),,chr2,132290464,132290464,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly299Arg/c.895G>A|375|CCDC74A|protein_coding|CODING|NM_001258304.1|6|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly236Arg/c.706G>A|312|CCDC74A|protein_coding|CODING|NM_001258306.1|6|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly302Arg/c.904G>A|378|CCDC74A|protein_coding|CODING|NM_138770.2|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys237Lys/c.711G>A|272|CCDC74A|protein_coding|CODING|NM_001258305.1|5|1),intron_variant(MODIFIER|||n.21-69977G>A||RNU6-81P||NON_CODING|NR_046946.1|2|1)","K562:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0593,0.085,0.1014,0.15,0.24,0.10,,0.230852(U),0.893(P),"1.34,1.34(T,T)",0.0000(T),0.121,-0.296297,2.66,0.709,-1.050000,-0.226000,0.204000,0.165000,0.927000,0.360000,6.2901
missense_variant,GPR39,MISSENSE,NM_001508.2:p.Ala50Val/c.149C>T,gCc/gTc,MODERATE,COSM3757633(1),0.378195,0.2361,rs2241764,0.92(T),0.001(B),-1.265(N),-0.9418(T),,chr2,133174764,133174764,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala50Val/c.149C>T|453|GPR39|protein_coding|CODING|NM_001508.2|1|1),"NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,GM06990:H3K27me3,NHEK:H3K4me3,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27ac,HMEC:H3K4me2,HMEC:CTCF,K562:H3K27me3,NHEK:H3K4me2,HMEC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.3978,0.3429,0.327,0.39,0.50,0.33,,0.002497(N),0.999(P),1.27(T),0.0000(T),0.041,0.326541,5.34,5.34,-0.391000,1.064000,4.958000,0.839000,0.989000,1.000000,11.4538
synonymous_variant,GPR39,SILENT,NM_001508.2:p.Thr128Thr/c.384A>G,acA/acG,LOW,,0.388778,0.2321,rs2241763,,,,,,chr2,133174999,133174999,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr128Thr/c.384A>G|453|GPR39|protein_coding|CODING|NM_001508.2|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,K562:H3K27me3,HMEC:H3K4me1,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.3834,0.3444,0.327,0.40,0.53,0.33,,,,,,,,,,,,,,,,
synonymous_variant,NCKAP5,SILENT,NM_207363.2:p.Leu1718Leu/c.5152T>C,Ttg/Ctg,LOW,COSM3757634(1),0.15655,0.1002,rs56284623,,,,,,chr2,133489601,133489601,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1718Leu/c.5152T>C|1909|NCKAP5|protein_coding|CODING|NM_207363.2|17|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu399Leu/c.1195T>C|590|NCKAP5|protein_coding|CODING|NM_207481.3|15|1)",IMR90:H3K36me3,,,,0.2546,0.1499,0.2634,0.21,0.08,0.27,,,,,,,,,,,,,,,,
missense_variant,MAP3K19,MISSENSE,NM_025052.4:p.Thr438Ile/c.1313C>T,aCt/aTt,MODERATE,,0.132388,0.122,rs16831235,0(D),"0.325,0.504,0.174(B,P,B)",1.32(L),-1.0937(T),,chr2,135745129,135745129,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr325Ile/c.974C>T|1215|MAP3K19|protein_coding|CODING|NM_001018044.2|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr438Ile/c.1313C>T|1328|MAP3K19|protein_coding|CODING|NM_025052.4|7|1),intron_variant(MODIFIER|||c.618+3978C>T|460|MAP3K19|protein_coding|CODING|NM_001282883.1|6|1),intron_variant(MODIFIER|||c.619-3734C>T|510|MAP3K19|protein_coding|CODING|NM_001018046.2|6|1),intron_variant(MODIFIER|||c.619-3734C>T|462|MAP3K19|protein_coding|CODING|NM_001018047.2|6|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.2262,0.2028,0.13,0.06,0.16,,0.058555(N),0.962(P),"-0.53,-0.52,1.84(T,T,T)",0.0002(T),0.106,3.689257,5.03,2.11,0.585000,0.663000,2.295000,0.798000,0.024000,0.671000,8.4706
synonymous_variant,RAB3GAP1,SILENT,NM_001172435.1:p.Phe755Phe/c.2265T>C,ttT/ttC,LOW,,0.786741,1,rs17261772,,,,,,chr2,135911422,135911422,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe755Phe/c.2265T>C|988|RAB3GAP1|protein_coding|CODING|NM_001172435.1|19|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe755Phe/c.2265T>C|981|RAB3GAP1|protein_coding|CODING|NM_012233.2|19|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118094.2,,0.7955,0.6542,0.4145,0.49,0.85,0.31,,,,,,,,,,,,,,,,
missense_variant,R3HDM1,MISSENSE,NM_001282798.1:p.Gln633Pro/c.1898A>C,cAg/cCg,MODERATE,COSM3757644(2),0.188498,0.1756,rs2305165,0.27(T),"0.974,0.863,0.979,0.979(D,P,D,D)",2.045(M),-1.1448(T),,chr2,136409574,136409574,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln633Pro/c.1898A>C|1100|R3HDM1|protein_coding|CODING|NM_001282798.1|17|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln504Pro/c.1511A>C|971|R3HDM1|protein_coding|CODING|NM_001282799.1|14|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln577Pro/c.1730A>C|1044|R3HDM1|protein_coding|CODING|NM_001282800.1|14|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln632Pro/c.1895A>C|1099|R3HDM1|protein_coding|CODING|NM_015361.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3609,0.2291,0.1322,0.09,0.11,0.08,,0.000002(D),0.001(P),"0.56,0.56,0.56,0.56,0.56(T,T,T,T,T)",0.0006(T),0.355,4.090264,5.42,5.42,0.459000,2.039000,7.954000,0.997000,1.000000,1.000000,15.1126
synonymous_variant,LCT,SILENT,NM_002299.2:p.Ala1856Ala/c.5568T>C,gcT/gcC,LOW,COSM4001189(1),0.441494,0.4395,rs2278544,,,,,,chr2,136546110,136546110,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1856Ala/c.5568T>C|1927|LCT|protein_coding|CODING|NM_002299.2|17|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3998,0.4784,0.6561,0.63,0.39,0.75,,,,,,,,,,,,,,,,
missense_variant,LCT,MISSENSE,NM_002299.2:p.Asn1639Ser/c.4916A>G,aAt/aGt,MODERATE,,0.442692,0.4623,rs2322659,0.23(T),0.031(B),0.28(N),-0.9694(T),,chr2,136555659,136555659,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn1639Ser/c.4916A>G|1927|LCT|protein_coding|CODING|NM_002299.2|13|1),"NHEK:H3K27ac,NHEK:H3K4me1,NHEK:DNase1",,,,0.3957,0.4669,0.6382,0.62,0.41,0.73,,0.151626(N),1.000(P),1.54(T),0.0000(T),0.088,1.228511,5.76,-8.89,0.533000,-1.651000,-0.869000,0.963000,0.000000,0.000000,10.073
synonymous_variant,LCT,SILENT,NM_002299.2:p.Leu1536Leu/c.4606C>T,Ctg/Ttg,LOW,,0.660144,0.7758,rs2304371,,,,,,chr2,136561557,136561557,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1536Leu/c.4606C>T|1927|LCT|protein_coding|CODING|NM_002299.2|11|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7311,0.7507,0.7485,0.70,0.49,0.80,,,,,,,,,,,,,,,,
synonymous_variant,LCT,SILENT,NM_002299.2:p.Gly1443Gly/c.4329C>T,ggC/ggT,LOW,,0.243211,0.2153,rs3739022,,,,,,chr2,136562472,136562472,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1443Gly/c.4329C>T|1927|LCT|protein_coding|CODING|NM_002299.2|10|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.365,0.2839,0.1501,0.14,0.21,0.10,,,,,,,,,,,,,,,,
synonymous_variant,LCT,SILENT,NM_002299.2:p.Gly473Gly/c.1419C>A,ggC/ggA,LOW,COSM3757645(1),0.35603,0.3998,rs6719488,,,,,,chr2,136575199,136575199,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly473Gly/c.1419C>A|1927|LCT|protein_coding|CODING|NM_002299.2|6|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3303,0.4323,0.5954,0.54,0.24,0.70,,,,,,,,,,,,,,,,
missense_variant,LCT,MISSENSE,NM_002299.2:p.Ile362Val/c.1084A>G,Atc/Gtc,MODERATE,,0.979233,1,rs4954449,1(T),0.0(B),-1.905(N),-0.9537(T),,chr2,136575534,136575534,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile362Val/c.1084A>G|1927|LCT|protein_coding|CODING|NM_002299.2|6|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,0.98,0.94,1.00,,0.000003(N),1.000(P),2.02(T),0.0000(T),0.036,-0.761414,5.56,5.56,-0.119000,1.502000,4.503000,0.037000,0.944000,1.000000,12.036
synonymous_variant,LCT,SILENT,NM_002299.2:p.Thr194Thr/c.582C>T,acC/acT,LOW,COSM3757646(2),0.348442,0.372,rs2236783,,,,,,chr2,136594158,136594158,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr194Thr/c.582C>T|1927|LCT|protein_coding|CODING|NM_002299.2|1|1),,,,,0.3354,0.402,0.5964,0.54,0.24,0.70,,,,,,,,,,,,,,,,
synonymous_variant,THSD7B,SILENT,NM_001080427.1:p.Val65Val/c.195T>C,gtT/gtC,LOW,COSM148943(1),0.148962,0.2292,rs60939389,,,,,,chr2,137814138,137814138,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val65Val/c.195T>C|1576|THSD7B|protein_coding|CODING|NM_001080427.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),NHEK:H3K27me3,,,,0.1268,0.1239,0.1113,0.12,0.14,0.11,,,,,,,,,,,,,,,,
synonymous_variant,THSD7B,SILENT,NM_001080427.1:p.Pro178Pro/c.534C>G,ccC/ccG,LOW,,0.165935,0.002,rs17727482,,,,,,chr2,137814477,137814477,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro178Pro/c.534C>G|1576|THSD7B|protein_coding|CODING|NM_001080427.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:DNase1,NHEK:H3K27me3",,,,0.2342,0.2594,0.3956,0.30,0.07,0.40,,,,,,,,,,,,,,,,
missense_variant,THSD7B,MISSENSE,NM_001080427.1:p.Asp472Glu/c.1416T>A,gaT/gaA,MODERATE,,0.282149,0.1419,rs386497988,0.61(T),"0.014,0.008(B,B)",0.995(L),-0.9123(T),,chr2,137917922,137917922,T,A,het,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp472Glu/c.1416T>A|1576|THSD7B|protein_coding|CODING|NM_001080427.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.3558,0.3501,0.4861,0.39,0.20,0.48,,0.000090(N),0.000(P),"0.12,0.12,0.12(T,T,T)",0.0000(T),0.087,1.561850,5.96,2.25,0.528000,0.147000,1.121000,0.552000,0.948000,1.000000,5.4062
synonymous_variant,NXPH2,SILENT,NM_007226.2:p.Tyr73Tyr/c.219C>T,taC/taT,LOW,COSM3757648(1),0.658546,0.4474,rs10803570,,,,,,chr2,139429068,139429068,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr73Tyr/c.219C>T|264|NXPH2|protein_coding|CODING|NM_007226.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4765,0.6888,0.7177,0.75,0.86,0.70,,,,,,,,,,,,,,,,
synonymous_variant,LRP1B,SILENT,NM_018557.2:p.Thr4349Thr/c.13047G>A,acG/acA,LOW,,0.486222,0.6508,rs1386356,,,,-0.9578(T),,chr2,141032088,141032088,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr4349Thr/c.13047G>A|4599|LRP1B|protein_coding|CODING|NM_018557.2|85|1),,,,,0.5174,0.5735,0.665,0.53,0.26,0.67,,,0.000(P),,0.0000(T),.,1.073697,5.36,-2.23,-0.254000,-0.237000,0.285000,0.991000,0.993000,0.956000,1.7664
synonymous_variant,LRP1B,SILENT,NM_018557.2:p.Tyr2842Tyr/c.8526T>C,taT/taC,LOW,COSM3757652(1),0.543131,0.7222,rs4444457,,,,,,chr2,141260668,141260668,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr2842Tyr/c.8526T>C|4599|LRP1B|protein_coding|CODING|NM_018557.2|54|1),"HeLa-S3:DNase1,IMR90:DNase1,NH-A:DNase1,HMEC:DNase1",,,,0.5327,0.451,0.5388,0.53,0.50,0.55,,,,,,,,,,,,,,,,
synonymous_variant,LRP1B,SILENT,NM_018557.2:p.Gln2677Gln/c.8031A>G,caA/caG,LOW,COSM4001201(1),0.642372,0.4167,rs4954672,,,,,,chr2,141274576,141274576,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln2677Gln/c.8031A>G|4599|LRP1B|protein_coding|CODING|NM_018557.2|50|1),,,,,0.6329,0.7363,0.7475,0.75,0.70,0.77,,,,,,,,,,,,,,,,
synonymous_variant,LRP1B,SILENT,NM_018557.2:p.Ser1752Ser/c.5256A>G,tcA/tcG,LOW,COSM4133144(1),0.845248,0.9871,rs3749010,,,,,,chr2,141571329,141571329,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1752Ser/c.5256A>G|4599|LRP1B|protein_coding|CODING|NM_018557.2|32|1),,,,,0.9213,0.7709,0.8748,0.84,0.74,0.89,,,,,,,,,,,,,,,,
synonymous_variant,LRP1B,SILENT,NM_018557.2:p.Ala1024Ala/c.3072C>A,gcC/gcA,LOW,COSM3757654(1),0.275759,0.249,rs6748626,,,,,,chr2,141707868,141707868,G,T,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala1024Ala/c.3072C>A|4599|LRP1B|protein_coding|CODING|NM_018557.2|20|1),,,,,0.2025,0.2378,0.1402,0.22,0.39,0.14,,,,,,,,,,,,,,,,
missense_variant,LRP1B,MISSENSE,NM_018557.2:p.Gln48Arg/c.143A>G,cAg/cGg,MODERATE,,0.217452,0.3532,rs12990449,0.54(T),"0.003,0.005(B,B)",0.315(N),-1.0716(T),,chr2,142567910,142567910,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln48Arg/c.143A>G|4599|LRP1B|protein_coding|CODING|NM_018557.2|2|1),,,,,0.2975,0.1787,0.2296,0.18,0.10,0.22,,0.001897(N),0.797(P),"-3.68,-3.68(D,D)",0.0000(T),0.269,2.335108,5.62,4.45,0.528000,0.946000,3.525000,0.999000,1.000000,1.000000,7.8759
missense_variant,KYNU,MISSENSE,NM_001199241.1:p.Lys412Glu/c.1234A>G,Aaa/Gaa,MODERATE,COSM3757655(1),0.175719,0.2738,rs9013,1(T),0.001(B),0.99(L),-1.0525(T),,chr2,143798189,143798189,A,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys412Glu/c.1234A>G|465|KYNU|protein_coding|CODING|NM_001199241.1|14|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys412Glu/c.1234A>G|465|KYNU|protein_coding|CODING|NM_003937.2|13|1)","HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1677,0.0908,0.1879,0.16,0.14,0.17,,0.070493(N),1.000(P),"0.63,0.63(T,T)",0.0000(T),0.134,-2.138038,5.54,4.36,-0.435000,0.904000,1.857000,0.063000,0.001000,0.043000,12.6349
synonymous_variant,ARHGAP15,SILENT,NM_018460.3:p.Tyr219Tyr/c.657C>T,taC/taT,LOW,COSM3757656(1),0.0920527,0.003,rs17230746,,,,,,chr2,144194565,144194565,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr219Tyr/c.657C>T|475|ARHGAP15|protein_coding|CODING|NM_018460.3|8|1),"GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.1503,0.0879,0.2058,0.17,0.06,0.23,,,,,,,,,,,,,,,,
synonymous_variant,ACVR2A,SILENT,NM_001278579.1:p.Pro118Pro/c.354G>A,ccG/ccA,LOW,COSM3757658(3),0.352636,0.4673,rs1128919,,,,,,chr2,148657117,148657117,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro118Pro/c.354G>A|513|ACVR2A|protein_coding|CODING|NM_001278579.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro10Pro/c.30G>A|405|ACVR2A|protein_coding|CODING|NM_001278580.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro118Pro/c.354G>A|513|ACVR2A|protein_coding|CODING|NM_001616.4|3|1)","NH-A:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.2751,0.4611,0.327,0.31,0.31,0.32,,,,,,,,,,,,,,,,
missense_variant,ORC4,MISSENSE,NM_001190879.2:p.Asn78Ser/c.233A>G,aAt/aGt,MODERATE,COSM3757659(1),0.355831,0.4762,rs2307394,0.46(T),"0.033,0.009,0.021(B,B,B)",0.935(L),-0.9526(T),,chr2,148716428,148716428,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn78Ser/c.233A>G|436|ORC4|protein_coding|CODING|NM_001190879.2|6|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn4Ser/c.11A>G|362|ORC4|protein_coding|CODING|NM_001190882.2|4|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn78Ser/c.233A>G|436|ORC4|protein_coding|CODING|NM_002552.4|5|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn78Ser/c.233A>G|436|ORC4|protein_coding|CODING|NM_181741.3|5|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn78Ser/c.233A>G|436|ORC4|protein_coding|CODING|NM_181742.3|5|1),5_prime_UTR_variant(MODIFIER||20|c.-20A>G|352|ORC4|protein_coding|CODING|NM_001190881.2|2|1)",,Urate_levels,,,0.2832,0.4611,0.325,0.31,0.31,0.31,,0.028426(N),0.000(P),"0.45,0.45,0.45,-0.67,0.45,0.45,0.45,0.45(T,T,T,T,T,T,T,T)",0.0000(T),0.134,2.286415,5.48,5.48,0.477000,2.069000,2.450000,0.996000,1.000000,1.000000,9.1469
synonymous_variant,MMADHC,SILENT,NM_015702.2:p.Gln151Gln/c.453G>A,caG/caA,LOW,,0.759585,0.876,rs11545261,,,,,,chr2,150432976,150432976,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln151Gln/c.453G>A|296|MMADHC|protein_coding|CODING|NM_015702.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9018,0.7954,0.8907,0.77,0.52,0.91,,,,,,,,,,,,,,,,
synonymous_variant,NMI,SILENT,NM_004688.2:p.Gln39Gln/c.117A>G,caA/caG,LOW,,0.555711,0.4365,rs3771886,,,,,,chr2,152138522,152138522,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln39Gln/c.117A>G|307|NMI|protein_coding|CODING|NM_004688.2|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.502,0.6297,0.5577,0.60,0.63,0.58,,,,,,,,,,,,,,,,
missense_variant,NMI,MISSENSE,NM_004688.2:p.Ser16Leu/c.47C>T,tCg/tTg,MODERATE,COSM4133150(1),0.3127,0.3839,rs1048135,0.37(T),"0.0,0.001,0.0(B,B,B)",0.55(N),-0.9945(T),,chr2,152139416,152139416,G,A,het,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser16Leu/c.47C>T|307|NMI|protein_coding|CODING|NM_004688.2|2|1),"K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3354,0.4885,0.4374,0.33,0.11,0.45,,0.000000(N),1.000(P),"1.6,-0.29(T,T)",0.0000(T),0.257,0.208667,3.93,-4.59,-0.242000,-1.082000,-2.958000,0.005000,0.000000,0.000000,0.4636
missense_variant,TNFAIP6,MISSENSE,NM_007115.3:p.Gln144Arg/c.431A>G,cAa/cGa,MODERATE,,0.177117,0.1329,rs1046668,0.14(T),0.0(B),-0.06(N),-0.9514(T),,chr2,152226570,152226570,A,G,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln144Arg/c.431A>G|277|TNFAIP6|protein_coding|CODING|NM_007115.3|4|1),upstream_gene_variant(MODIFIER||1645|||MIR4773-2||NON_CODING|NR_039932.1||1),downstream_gene_variant(MODIFIER||1645|||MIR4773-1||NON_CODING|NR_039931.1||1),intron_variant(MODIFIER|||n.306+2739T>C||LOC101929319||NON_CODING|NR_110248.1|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.137,0.1138,0.1382,0.19,0.30,0.14,,0.001692(N),1.000(P),1.62(T),0.0000(T),0.028,-1.201428,5.27,3.46,-0.227000,0.225000,1.071000,0.230000,0.963000,0.990000,5.9954
missense_variant,RIF1,MISSENSE,NM_018151.4:p.Gly836Ser/c.2506G>A,Ggc/Agc,MODERATE,,0.639377,0.756,rs2444263,1(T),"0.0,0.003(B,B)",-1.7(N),-0.9992(T),,chr2,152311570,152311570,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly836Ser/c.2506G>A|2446|RIF1|protein_coding|CODING|NM_001177663.1|22|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly836Ser/c.2506G>A|2446|RIF1|protein_coding|CODING|NM_001177664.1|22|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly836Ser/c.2506G>A|2446|RIF1|protein_coding|CODING|NM_001177665.1|21|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly836Ser/c.2506G>A|2472|RIF1|protein_coding|CODING|NM_018151.4|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5184,0.7061,0.6779,0.63,0.58,0.66,,0.024077(N),1.000(P),"-4.91,-4.91,-4.91,-4.91,-4.91(D,D,D,D,D)",0.0000(T),0.292,-0.366915,5.55,3.18,-0.254000,0.084000,1.088000,0.880000,0.259000,0.011000,8.7406
synonymous_variant,RIF1,SILENT,NM_018151.4:p.Leu921Leu/c.2763G>A,ctG/ctA,LOW,COSM3757667(2),0.248403,0.3224,rs16830047,,,,,,chr2,152314385,152314385,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu921Leu/c.2763G>A|2446|RIF1|protein_coding|CODING|NM_001177663.1|24|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu921Leu/c.2763G>A|2446|RIF1|protein_coding|CODING|NM_001177664.1|24|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu921Leu/c.2763G>A|2446|RIF1|protein_coding|CODING|NM_001177665.1|23|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu921Leu/c.2763G>A|2472|RIF1|protein_coding|CODING|NM_018151.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.226,0.3631,0.3211,0.23,0.13,0.28,,,,,,,,,,,,,,,,
missense_variant,RIF1,MISSENSE,NM_018151.4:p.Val1362Met/c.4084G>A,Gtg/Atg,MODERATE,,0.639976,0.7579,rs2123465,0.18(T),"0.002,0.02(B,B)",0.755(N),-0.9720(T),,chr2,152320118,152320118,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1362Met/c.4084G>A|2446|RIF1|protein_coding|CODING|NM_001177663.1|30|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1362Met/c.4084G>A|2446|RIF1|protein_coding|CODING|NM_001177664.1|30|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1362Met/c.4084G>A|2446|RIF1|protein_coding|CODING|NM_001177665.1|29|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1362Met/c.4084G>A|2472|RIF1|protein_coding|CODING|NM_018151.4|30|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5194,0.7061,0.6779,0.63,0.58,0.66,,0.050480(N),1.000(P),"1.32,1.32,1.32,1.32,1.32(T,T,T,T,T)",0.0000(T),0.019,-0.943203,4.92,-5.84,-0.381000,-2.144000,-0.424000,0.014000,0.000000,0.000000,11.1085
missense_variant,RIF1,MISSENSE,NM_018151.4:p.Asn2021Tyr/c.6061A>T,Aat/Tat,MODERATE,,0.659545,0.7619,rs2444257,0.41(T),"0.0,0.0(B,B)",-0.345(N),-1.0082(T),,chr2,152322095,152322095,A,T,het,"missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn2021Tyr/c.6061A>T|2446|RIF1|protein_coding|CODING|NM_001177663.1|30|1),missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn2021Tyr/c.6061A>T|2446|RIF1|protein_coding|CODING|NM_001177664.1|30|1),missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn2021Tyr/c.6061A>T|2446|RIF1|protein_coding|CODING|NM_001177665.1|29|1),missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn2021Tyr/c.6061A>T|2472|RIF1|protein_coding|CODING|NM_018151.4|30|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.7392,0.7276,0.68,0.59,0.73,,0.036308(N),1.000(P),"3.02,3.02,3.02,3.02,3.02(T,T,T,T,T)",0.0000(T),0.261,-1.339846,5.04,-2.42,-3.514000,-0.792000,-1.094000,0.000000,0.000000,0.000000,1.2839
missense_variant,RIF1,MISSENSE,NM_018151.4:p.Leu2418Val/c.7252C>G,Ctg/Gtg,MODERATE,,0.656749,0.7599,rs1065177,1(T),"0.0,0.003(B,B)",0(N),-1.0098(T),,chr2,152331418,152331418,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu2392Val/c.7174C>G|2446|RIF1|protein_coding|CODING|NM_001177663.1|35|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu2392Val/c.7174C>G|2446|RIF1|protein_coding|CODING|NM_001177664.1|35|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu2392Val/c.7174C>G|2446|RIF1|protein_coding|CODING|NM_001177665.1|34|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu2418Val/c.7252C>G|2472|RIF1|protein_coding|CODING|NM_018151.4|36|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.7378,0.7256,0.68,0.59,0.73,,0.133840(N),1.000(P),"2.88,2.8,2.8,2.88,2.8(T,T,T,T,T)",0.0000(T),0.184,-1.898981,5.72,-6.16,-1.083000,-1.793000,-2.113000,0.283000,0.067000,0.000000,5.004
missense_variant,NEB,MISSENSE,NM_001271208.1:p.Ala8180Pro/c.24538G>C,Gct/Cct,MODERATE,COSM4154530(1),0.627796,0.751,rs7575451,0.85(T),"0.0,0.0,0.001,0.0(B,B,B,B)",-0.78(N),-1.0334(T),,chr2,152352843,152352843,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala8145Pro/c.24433G>C|8525|NEB|protein_coding|CODING|NM_001164507.1|173|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala8145Pro/c.24433G>C|8525|NEB|protein_coding|CODING|NM_001164508.1|173|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala8180Pro/c.24538G>C|8560|NEB|protein_coding|CODING|NM_001271208.1|174|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala6277Pro/c.18829G>C|6657|NEB|protein_coding|CODING|NM_004543.4|140|1)",,,RCV000081126.3,,0.4826,0.6945,0.6541,0.63,0.59,0.64,,,0.000(P),"3.44,3.41,3.41,3.41,3.44,3.95,4.1,2.96(T,T,T,T,T,T,T,T)",0.0000(T),0.698,0.967001,5.0,4.11,-0.120000,0.607000,3.099000,0.149000,0.997000,1.000000,10.3845
synonymous_variant,NEB,SILENT,NM_001271208.1:p.Thr7230Thr/c.21690A>G,acA/acG,LOW,,0.491613,0.5585,rs4664475,,,,,,chr2,152387553,152387553,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr7195Thr/c.21585A>G|8525|NEB|protein_coding|CODING|NM_001164507.1|145|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr7195Thr/c.21585A>G|8525|NEB|protein_coding|CODING|NM_001164508.1|145|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr7230Thr/c.21690A>G|8560|NEB|protein_coding|CODING|NM_001271208.1|146|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr5482Thr/c.16446A>G|6657|NEB|protein_coding|CODING|NM_004543.4|117|1)",,,RCV000081120.3,,0.3609,0.6556,0.6213,0.55,0.41,0.62,,,,,,,,,,,,,,,,
missense_variant,NEB,MISSENSE,NM_001271208.1:p.Arg6102Thr/c.18305G>C,aGa/aCa,MODERATE,COSM4154536(1),0.653155,0.7758,rs2288210,1(T),0.0(B),-2.095(N),-0.9976(T),,chr2,152422076,152422076,C,G,het,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg6102Thr/c.18305G>C|8525|NEB|protein_coding|CODING|NM_001164507.1|116|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg6102Thr/c.18305G>C|8525|NEB|protein_coding|CODING|NM_001164508.1|116|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg6102Thr/c.18305G>C|8560|NEB|protein_coding|CODING|NM_001271208.1|116|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg4389Thr/c.13166G>C|6657|NEB|protein_coding|CODING|NM_004543.4|88|1)",,,RCV000081115.3,,0.5235,0.6988,0.6839,0.65,0.62,0.66,,0.000001(N),0.000(P),"3.89,3.86,3.87,3.88,3.89(T,T,T,T,T)",0.0000(T),0.774,0.789963,6.16,5.28,-0.127000,0.939000,5.717000,0.995000,1.000000,1.000000,13.9976
synonymous_variant,NEB,SILENT,NM_001271208.1:p.Tyr6098Tyr/c.18294T>C,taT/taC,LOW,COSM4001213(1),0.223842,0.3036,rs2288211,,,,,,chr2,152422087,152422087,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr6098Tyr/c.18294T>C|8525|NEB|protein_coding|CODING|NM_001164507.1|116|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr6098Tyr/c.18294T>C|8525|NEB|protein_coding|CODING|NM_001164508.1|116|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr6098Tyr/c.18294T>C|8560|NEB|protein_coding|CODING|NM_001271208.1|116|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr4385Tyr/c.13155T>C|6657|NEB|protein_coding|CODING|NM_004543.4|88|1)",,,RCV000081114.3,,0.18,0.3761,0.328,0.23,0.09,0.29,,,,,,,,,,,,,,,,
synonymous_variant,NEB,SILENT,NM_001271208.1:p.Pro3121Pro/c.9363T>C,ccT/ccC,LOW,,0.625998,0.7728,rs6709886,,,,,,chr2,152490219,152490219,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro3121Pro/c.9363T>C|8525|NEB|protein_coding|CODING|NM_001164507.1|65|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro3121Pro/c.9363T>C|8525|NEB|protein_coding|CODING|NM_001164508.1|65|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro3121Pro/c.9363T>C|8560|NEB|protein_coding|CODING|NM_001271208.1|65|1),intron_variant(MODIFIER|||c.8854-2886T>C|6657|NEB|protein_coding|CODING|NM_004543.4|62|1)",,,,,0.547,0.683,0.6521,0.60,0.52,0.63,,,,,,,,,,,,,,,,
missense_variant,NEB,MISSENSE,NM_001271208.1:p.Cys3042Arg/c.9124T>C,Tgc/Cgc,MODERATE,,0.972045,1,rs6710212,0.5(T),,-2.82(N),-0.9152(T),,chr2,152490458,152490458,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys3042Arg/c.9124T>C|8525|NEB|protein_coding|CODING|NM_001164507.1|65|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys3042Arg/c.9124T>C|8525|NEB|protein_coding|CODING|NM_001164508.1|65|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys3042Arg/c.9124T>C|8560|NEB|protein_coding|CODING|NM_001271208.1|65|1),intron_variant(MODIFIER|||c.8854-3125T>C|6657|NEB|protein_coding|CODING|NM_004543.4|62|1)",,,,,1,0.9957,1,0.98,0.92,1.00,,,0.000(P),"3.85,3.85(T,T)",0.0000(T),0.117,1.344883,6.02,6.02,-0.128000,1.564000,1.672000,0.688000,1.000000,0.335000,11.81
missense_variant,NEB,MISSENSE,NM_001271208.1:p.Val1491Met/c.4471G>A,Gtg/Atg,MODERATE,COSM4001231(1),0.533147,0.379,rs386610059,0.05(D),0.42(B),1.675(L),-1.1614(T),,chr2,152527572,152527572,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1491Met/c.4471G>A|8525|NEB|protein_coding|CODING|NM_001164507.1|38|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1491Met/c.4471G>A|8525|NEB|protein_coding|CODING|NM_001164508.1|38|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1491Met/c.4471G>A|8560|NEB|protein_coding|CODING|NM_001271208.1|38|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1491Met/c.4471G>A|6657|NEB|protein_coding|CODING|NM_004543.4|38|1)",,,RCV000081137.3,,0.635,0.8357,0.8231,0.66,0.32,0.83,,0.000183(D),0.000(P),"3.22,3.31,3.31,3.28(T,T,T,T)",0.0000(T),0.318,4.270470,5.42,5.42,0.655000,2.691000,2.696000,0.990000,1.000000,1.000000,14.7853
missense_variant,NEB,MISSENSE,NM_001271208.1:p.Tyr1301His/c.3901T>C,Tat/Cat,MODERATE,COSM4001236(1),0.716054,0.5833,rs6711382,0.49(T),0.002(B),-0.895(N),-0.9835(T),,chr2,152531077,152531077,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1301His/c.3901T>C|8525|NEB|protein_coding|CODING|NM_001164507.1|36|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1301His/c.3901T>C|8525|NEB|protein_coding|CODING|NM_001164508.1|36|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1301His/c.3901T>C|8560|NEB|protein_coding|CODING|NM_001271208.1|36|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1301His/c.3901T>C|6657|NEB|protein_coding|CODING|NM_004543.4|36|1)",HUVEC:H3K27me3,,,,0.7004,0.9236,0.8817,0.82,0.66,0.89,,0.002179(N),0.000(P),"0.91,0.91,0.91,0.91(T,T,T,T)",0.0000(T),0.161,0.849301,5.52,5.52,-0.119000,1.351000,1.340000,0.585000,1.000000,1.000000,7.2578
missense_variant,NEB,MISSENSE,NM_001271208.1:p.Lys1027Asn/c.3081A>T,aaA/aaT,MODERATE,,0.583466,0.4563,rs6735208,0.58(T),0.855(P),1.445(L),-1.0095(T),,chr2,152536498,152536498,T,A,hom,"missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys1027Asn/c.3081A>T|8525|NEB|protein_coding|CODING|NM_001164507.1|31|1),missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys1027Asn/c.3081A>T|8525|NEB|protein_coding|CODING|NM_001164508.1|31|1),missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys1027Asn/c.3081A>T|8560|NEB|protein_coding|CODING|NM_001271208.1|31|1),missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys1027Asn/c.3081A>T|6657|NEB|protein_coding|CODING|NM_004543.4|31|1)",,,RCV000081134.3,,0.6227,0.8703,0.8121,0.70,0.43,0.83,,0.000000(D),0.000(P),"3.22,3.24,3.24,3.25(T,T,T,T)",0.0000(T),0.207,3.450587,5.17,-1.62,0.528000,-0.203000,-0.418000,0.789000,0.992000,0.350000,10.1533
synonymous_variant,NEB,SILENT,NM_001271208.1:p.Ala257Ala/c.771T>C,gcT/gcC,LOW,COSM4001250(1),0.569289,0.4702,rs4611637,,,,,,chr2,152573981,152573981,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala257Ala/c.771T>C|8525|NEB|protein_coding|CODING|NM_001164507.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala257Ala/c.771T>C|8525|NEB|protein_coding|CODING|NM_001164508.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala257Ala/c.771T>C|8560|NEB|protein_coding|CODING|NM_001271208.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala257Ala/c.771T>C|6657|NEB|protein_coding|CODING|NM_004543.4|10|1)",,,RCV000081142.3,,0.6288,0.8473,0.8121,0.69,0.38,0.83,,,,,,,,,,,,,,,,
synonymous_variant,CACNB4,SILENT,NM_000726.3:p.Ile254Ile/c.762T>A,atT/atA,LOW,COSM3757681(1),0.0503195,0.005,rs61736804,,,,,,chr2,152717331,152717331,A,T,het,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile254Ile/c.762T>A|520|CACNB4|protein_coding|CODING|NM_000726.3|10|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile236Ile/c.708T>A|502|CACNB4|protein_coding|CODING|NM_001005746.2|10|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile220Ile/c.660T>A|486|CACNB4|protein_coding|CODING|NM_001005747.2|9|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile254Ile/c.762T>A|458|CACNB4|protein_coding|CODING|NM_001145798.1|10|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:DNase1,HepG2:H3K36me3",,RCV000116535.2,,0.0297,0.0259,0.0278,0.06,0.12,0.03,,,,,,,,,,,,,,,,
synonymous_variant,FMNL2,SILENT,NM_052905.3:p.Ala41Ala/c.123T>C,gcT/gcC,LOW,,0.00479233,0,rs138926754,,,,,,chr2,153378462,153378462,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala41Ala/c.123T>C|1092|FMNL2|protein_coding|CODING|NM_052905.3|2|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.002,0.0014,0.0199,0.02,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,FMNL2,SILENT,NM_052905.3:p.Asp350Asp/c.1050C>T,gaC/gaT,LOW,COSM1129543(1),0.0519169,0.0069,rs35776654,,,,,,chr2,153468107,153468107,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp350Asp/c.1050C>T|1092|FMNL2|protein_coding|CODING|NM_052905.3|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0675,0.0576,0.1392,0.10,0.02,0.14,,,,,,,,,,,,,,,,
synonymous_variant,PRPF40A,SILENT,NM_017892.3:p.Ala230Ala/c.690C>T,gcC/gcT,LOW,COSM1400197(3),0.154353,0.2659,rs11544718,,,,,,chr2,153533260,153533260,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala230Ala/c.690C>T|930|PRPF40A|protein_coding|CODING|NM_017892.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2229,0.098,0.1789,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,LOC100144595,MISSENSE,NM_001256368.1:p.Val102Met/c.304G>A,Gtg/Atg,MODERATE,,,,,,,,,,chr2,155294108,155294108,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val102Met/c.304G>A|102|LOC100144595|protein_coding|CODING|NM_001256368.1|5|1),intron_variant(MODIFIER|||c.1396-996C>T|556|GALNT13|protein_coding|CODING|NM_052917.2|11|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ3,SILENT,NM_002239.3:p.His346His/c.1038T>C,caT/caC,LOW,,0.166933,0.0367,rs17642086,,,,,,chr2,155711357,155711357,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His346His/c.1038T>C|501|KCNJ3|protein_coding|CODING|NM_002239.3|3|1),3_prime_UTR_variant(MODIFIER||113|c.*113T>C|235|KCNJ3|protein_coding|CODING|NM_001260508.1|2|1)",,,,,0.1247,0.2147,0.3549,0.28,0.16,0.34,,,,,,,,,,,,,,,,
missense_variant,GPD2,MISSENSE,NM_000408.4:p.Arg264His/c.791G>A,cGt/cAt,MODERATE,COSM148959(2),0.657947,0.7847,rs2116665,0.08(T),0.013(B),1.61(L),-0.9814(T),,chr2,157406249,157406249,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg264His/c.791G>A|727|GPD2|protein_coding|CODING|NM_000408.4|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg264His/c.791G>A|727|GPD2|protein_coding|CODING|NM_001083112.2|7|1)",NHEK:H3K36me3,,,,0.6973,0.7032,0.6889,0.63,0.48,0.71,,0.001700(N),0.128(P),"-0.27,-0.27,-0.27,-0.27,-0.27(T,T,T,T,T)",0.0000(T),0.107,0.687659,5.91,3.17,0.650000,0.412000,1.958000,0.333000,0.004000,0.930000,10.1454
synonymous_variant,GALNT5,SILENT,NM_014568.1:p.His763His/c.2289C>T,caC/caT,LOW,,0.798922,0.8403,rs3214040,,,,,,chr2,158157361,158157361,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His763His/c.2289C>T|940|GALNT5|protein_coding|CODING|NM_014568.1|7|1),"K562:H3K36me3,IMR90:H3K36me3",,,,0.9284,0.8012,0.9264,0.82,0.63,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ACVR1C,SILENT,NM_145259.2:p.Phe38Phe/c.114C>T,ttC/ttT,LOW,COSM3757690(1),0.440296,0.3185,rs4556933,,,,,,chr2,158443889,158443889,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe38Phe/c.114C>T|413|ACVR1C|protein_coding|CODING|NM_001111032.1|2|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe38Phe/c.114C>T|336|ACVR1C|protein_coding|CODING|NM_001111033.1|2|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe38Phe/c.114C>T|493|ACVR1C|protein_coding|CODING|NM_145259.2|2|1),5_prime_UTR_variant(MODIFIER||37|c.-37C>T|443|ACVR1C|protein_coding|CODING|NM_001111031.1|2|1)",,,,,0.272,0.4323,0.3936,0.48,0.66,0.40,,,,,,,,,,,,,,,,
synonymous_variant,ACVR1,SILENT,NM_001105.4:p.Glu230Glu/c.690G>A,gaG/gaA,LOW,,0.913938,0.9712,rs1146031,,,,,,chr2,158626980,158626980,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu230Glu/c.690G>A|509|ACVR1|protein_coding|CODING|NM_001105.4|7|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu230Glu/c.690G>A|509|ACVR1|protein_coding|CODING|NM_001111067.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9816,0.9582,0.9861,0.91,0.76,0.99,,,,,,,,,,,,,,,,
synonymous_variant,ACVR1,SILENT,NM_001105.4:p.Ala90Ala/c.270C>T,gcC/gcT,LOW,,0.650958,0.9067,rs2227861,,,,,,chr2,158636910,158636910,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala90Ala/c.270C>T|509|ACVR1|protein_coding|CODING|NM_001105.4|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala90Ala/c.270C>T|509|ACVR1|protein_coding|CODING|NM_001111067.2|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8047,0.7666,0.7793,0.60,0.28,0.77,,,,,,,,,,,,,,,,
missense_variant,CCDC148,MISSENSE,NM_138803.3:p.Lys329Arg/c.986A>G,aAg/aGg,MODERATE,,0.955871,0.998,rs7559772,1(T),"0.003,0.001,0.002,0.0,0.0(B,B,B,B,B)",-2.28(N),-0.9553(T),,chr2,159166069,159166069,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys243Arg/c.728A>G|299|CCDC148|protein_coding|CODING|NM_001171637.1|7|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys329Arg/c.986A>G|591|CCDC148|protein_coding|CODING|NM_138803.3|9|1)",HUVEC:H3K27me3,,,,0.9714,0.9438,0.9453,0.95,0.93,0.95,,,0.000(P),"2.14,2.15,1.86(T,T,T)",0.0000(T),0.06,-1.797078,5.95,3.84,-1.736000,0.444000,2.016000,0.095000,0.520000,0.971000,13.444
synonymous_variant,CCDC148,SILENT,NM_138803.3:p.Gln240Gln/c.720G>A,caG/caA,LOW,COSM3757691(1),0.202676,0.2232,rs16842890,,,,,,chr2,159195282,159195282,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln154Gln/c.462G>A|299|CCDC148|protein_coding|CODING|NM_001171637.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln240Gln/c.720G>A|591|CCDC148|protein_coding|CODING|NM_138803.3|7|1)",,,,,0.0716,0.0937,0.0785,0.18,0.37,0.08,,,,,,,,,,,,,,,,
missense_variant,CCDC148,MISSENSE,NM_138803.3:p.Met157Val/c.469A>G,Atg/Gtg,MODERATE,COSM3757692(2),0.202476,0.2232,rs12620556,0.38(T),"0.0,0.0(B,B)",-0.29(N),-0.9043(T),,chr2,159196771,159196771,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met71Val/c.211A>G|299|CCDC148|protein_coding|CODING|NM_001171637.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met157Val/c.469A>G|591|CCDC148|protein_coding|CODING|NM_138803.3|5|1)",,,,,0.0716,0.0937,0.0765,0.18,0.38,0.08,,,1.000(P),"2.0,2.0,1.62,1.61(T,T,T,T)",0.0000(T),0.008,0.203605,5.81,-2.01,-1.615000,-0.329000,-0.233000,0.010000,0.000000,0.000000,2.5118
synonymous_variant,PKP4,SILENT,NM_003628.3:p.Ala22Ala/c.66C>T,gcC/gcT,LOW,COSM3766520(1),0.0269569,0,rs35112233,,,,,,chr2,159389762,159389762,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala22Ala/c.66C>T|1149|PKP4|protein_coding|CODING|NM_001005476.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala22Ala/c.66C>T|1192|PKP4|protein_coding|CODING|NM_003628.3|2|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0133,0.0562,0.0676,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,DAPL1,SILENT,NM_001017920.2:p.Phe45Phe/c.135C>T,ttC/ttT,LOW,,0.0583067,0,rs17810398,,,,,,chr2,159660870,159660870,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe45Phe/c.135C>T|107|DAPL1|protein_coding|CODING|NM_001017920.2|2|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.044,0.1023,0.1561,0.10,0.03,0.13,,,0.000(P),,,.,0.734156,5.83,-5.87,-0.271000,-1.474000,-0.281000,0.821000,0.405000,0.515000,2.6942
missense_variant,DAPL1,MISSENSE,NM_001017920.2:p.Ala66Thr/c.196G>A,Gca/Aca,MODERATE,COSM3757693(1),0.111621,0.0317,rs12535,1(T),0.0(B),-0.35(N),-0.9322(T),,chr2,159663616,159663616,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala66Thr/c.196G>A|107|DAPL1|protein_coding|CODING|NM_001017920.2|3|1),"HUVEC:H3K27me3,NH-A:DNase1",,,,0.1094,0.1369,0.3002,0.22,0.06,0.30,,0.225418(N),1.000(P),"1.41,1.41(T,T)",0.0000(T),0.254,-1.648425,5.64,1.93,-1.246000,0.148000,0.338000,0.022000,0.780000,0.070000,4.5087
missense_variant,TANC1,MISSENSE,NM_033394.2:p.Asn251Ser/c.752A>G,aAc/aGc,MODERATE,,0.979832,1,rs12466551,1(T),0.0(B),-1.87(N),-0.9333(T),,chr2,160019863,160019863,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn250Ser/c.749A>G|1390|TANC1|protein_coding|CODING|NM_001145909.1|8|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn251Ser/c.752A>G|1861|TANC1|protein_coding|CODING|NM_033394.2|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9693,0.9957,0.998,0.99,0.97,1.00,,0.000000(N),1.000(P),"-0.12,1.24(T,T)",0.0000(T),0.018,0.677794,6.04,5.16,-0.213000,0.900000,5.573000,0.949000,1.000000,1.000000,12.987
synonymous_variant,TANC1,SILENT,NM_033394.2:p.Asn681Asn/c.2043T>C,aaT/aaC,LOW,,0.979034,1,rs6748288,,,,,,chr2,160035207,160035207,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn673Asn/c.2019T>C|1390|TANC1|protein_coding|CODING|NM_001145909.1|14|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn681Asn/c.2043T>C|1861|TANC1|protein_coding|CODING|NM_033394.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9693,0.9942,0.998,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,WDSUB1,MISSENSE,NM_001128212.1:p.Arg320Ser/c.958C>A,Cgc/Agc,MODERATE,COSM148963(3),0.473642,0.2738,rs7591849,0.76(T),"0.0,0.0,0.0(B,B,B)",-0.17(N),-0.9467(T),,chr2,160112881,160112881,G,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg320Ser/c.958C>A|476|WDSUB1|protein_coding|CODING|NM_001128212.1|9|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg320Ser/c.958C>A|476|WDSUB1|protein_coding|CODING|NM_001128213.1|9|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg320Ser/c.958C>A|476|WDSUB1|protein_coding|CODING|NM_152528.2|9|1)","IMR90:DNase1,HepG2:H3K36me3",,,,0.3231,0.3689,0.5398,0.62,0.72,0.57,,0.048580(N),1.000(P),"0.66,0.41,0.66,0.66,0.65(T,T,T,T,T)",0.0000(T),0.099,1.568119,5.54,4.37,-0.256000,0.378000,0.383000,0.984000,0.639000,0.000000,6.6524
missense_variant,WDSUB1,MISSENSE,NM_001128212.1:p.Pro173Leu/c.518C>T,cCg/cTg,MODERATE,,0.9998,1,rs174264,1(T),"0.0,0.0,0.0(B,B,B)",-2.175(N),-0.9390(T),,chr2,160136337,160136337,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro173Leu/c.518C>T|476|WDSUB1|protein_coding|CODING|NM_001128212.1|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro173Leu/c.518C>T|476|WDSUB1|protein_coding|CODING|NM_001128213.1|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro173Leu/c.518C>T|476|WDSUB1|protein_coding|CODING|NM_152528.2|3|1)","HUVEC:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),0.920(P),"0.48,0.16,0.48,0.48,0.48(T,T,T,T,T)",0.0000(T),0.434,0.906931,5.79,5.79,-0.381000,1.013000,6.844000,0.988000,1.000000,1.000000,11.9782
missense_variant,BAZ2B,MISSENSE,NM_013450.3:p.Arg844His/c.2531G>A,cGt/cAt,MODERATE,,0.000199681,0,rs201236160,0.01(D),"0.998,0.999,0.061,0.998(D,D,B,D)",0.895(L),0.9844(D),,chr2,160268992,160268992,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg808His/c.2423G>A|2132|BAZ2B|protein_coding|CODING|NM_001289975.1|13|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg844His/c.2531G>A|2168|BAZ2B|protein_coding|CODING|NM_013450.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.002475(U),1.000(D),"0.14,-3.95,0.14,-3.95(T,D,T,D)",0.8839(D),0.45,3.904531,5.69,4.81,0.650000,1.405000,5.645000,0.977000,0.987000,1.000000,14.6087
synonymous_variant,MARCH7,SILENT,NM_001282805.1:p.Asp217Asp/c.651C>T,gaC/gaT,LOW,COSM148965(4),0.220447,0.2698,rs11555185,,,,,,chr2,160604452,160604452,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp217Asp/c.651C>T|704|MARCH7|protein_coding|CODING|NM_001282805.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp161Asp/c.483C>T|635|MARCH7|protein_coding|CODING|NM_001282806.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp179Asp/c.537C>T|666|MARCH7|protein_coding|CODING|NM_001282807.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp217Asp/c.651C>T|704|MARCH7|protein_coding|CODING|NM_022826.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1227,0.4928,0.33,0.23,0.07,0.32,,,,,,,,,,,,,,,,
synonymous_variant,MARCH7,SILENT,NM_001282805.1:p.Ser231Ser/c.693A>G,tcA/tcG,LOW,,0.000199681,0,rs144441888,,,,,,chr2,160604494,160604494,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser231Ser/c.693A>G|704|MARCH7|protein_coding|CODING|NM_001282805.1|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser175Ser/c.525A>G|635|MARCH7|protein_coding|CODING|NM_001282806.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser193Ser/c.579A>G|666|MARCH7|protein_coding|CODING|NM_001282807.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser231Ser/c.693A>G|704|MARCH7|protein_coding|CODING|NM_022826.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,MARCH7,SILENT,NM_001282805.1:p.Pro489Pro/c.1467T>C,ccT/ccC,LOW,,0.891573,0.7282,rs1365803,,,,,,chr2,160605268,160605268,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro489Pro/c.1467T>C|704|MARCH7|protein_coding|CODING|NM_001282805.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro433Pro/c.1299T>C|635|MARCH7|protein_coding|CODING|NM_001282806.1|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro451Pro/c.1353T>C|666|MARCH7|protein_coding|CODING|NM_001282807.1|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro489Pro/c.1467T>C|704|MARCH7|protein_coding|CODING|NM_022826.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8957,0.9308,0.9225,0.93,0.96,0.91,,,,,,,,,,,,,,,,
missense_variant,LY75-CD302,MISSENSE,NM_001198759.1:p.Tyr1391His/c.4171T>C,Tat/Cat,MODERATE,COSM148967(3),0.205671,0.2212,rs2059696,0.53(T),"0.013,0.004,0.01(B,B,B)",0.805(L),-0.9000(T),,chr2,160673526,160673526,A,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1391His/c.4171T>C|1873|LY75-CD302|protein_coding|CODING|NM_001198759.1|30|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1391His/c.4171T>C|1817|LY75-CD302|protein_coding|CODING|NM_001198760.1|30|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1391His/c.4171T>C|1722|LY75|protein_coding|CODING|NM_002349.3|30|1)",CD4:H3K36me3,,,,0.1074,0.4827,0.327,0.23,0.07,0.31,,0.108922(N),0.984(P),"2.3,2.3,2.3,2.3,2.3(T,T,T,T,T)",0.0000(T),0.169,1.143804,5.65,1.99,0.528000,0.166000,0.893000,0.994000,0.995000,0.991000,5.9111
missense_variant,LY75-CD302,MISSENSE,NM_001198759.1:p.Lys1321Asn/c.3963G>T,aaG/aaT,MODERATE,,0.845447,0.9058,rs12692566,1(T),"0.001,0.002,0.0(B,B,B)",-1.065(N),-0.9988(T),,chr2,160676427,160676427,C,A,hom,"missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys1321Asn/c.3963G>T|1873|LY75-CD302|protein_coding|CODING|NM_001198759.1|29|1),missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys1321Asn/c.3963G>T|1817|LY75-CD302|protein_coding|CODING|NM_001198760.1|29|1),missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys1321Asn/c.3963G>T|1722|LY75|protein_coding|CODING|NM_002349.3|29|1)",,,,,0.726,0.879,0.8042,0.85,0.89,0.83,,,1.000(P),"3.2,3.2,3.2,3.2,3.2(T,T,T,T,T)",0.0000(T),0.115,-0.678141,5.65,4.5,-0.335000,0.427000,0.420000,0.980000,1.000000,0.998000,3.4073
synonymous_variant,LY75-CD302,SILENT,NM_001198759.1:p.Ala848Ala/c.2544A>G,gcA/gcG,LOW,COSM4001262(2),0.522364,0.4583,rs2729705,,,,,,chr2,160710922,160710922,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala848Ala/c.2544A>G|1873|LY75-CD302|protein_coding|CODING|NM_001198759.1|18|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala848Ala/c.2544A>G|1817|LY75-CD302|protein_coding|CODING|NM_001198760.1|18|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala848Ala/c.2544A>G|1722|LY75|protein_coding|CODING|NM_002349.3|18|1)","GM12878:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.2996,0.438,0.5736,0.62,0.71,0.56,,,,,,,,,,,,,,,,
missense_variant,LY75-CD302,MISSENSE,NM_001198759.1:p.Asp807Glu/c.2421C>G,gaC/gaG,MODERATE,COSM4133197(1),0.565895,0.7093,rs3951216,1(T),"0.001,0.004,0.001(B,B,B)",-0.84(N),-0.9911(T),,chr2,160711045,160711045,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp807Glu/c.2421C>G|1873|LY75-CD302|protein_coding|CODING|NM_001198759.1|18|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp807Glu/c.2421C>G|1817|LY75-CD302|protein_coding|CODING|NM_001198760.1|18|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp807Glu/c.2421C>G|1722|LY75|protein_coding|CODING|NM_002349.3|18|1),splice_region_variant(LOW|||c.2421C>G|1873|LY75-CD302|protein_coding|CODING|NM_001198759.1|18|1),splice_region_variant(LOW|||c.2421C>G|1817|LY75-CD302|protein_coding|CODING|NM_001198760.1|18|1),splice_region_variant(LOW|||c.2421C>G|1722|LY75|protein_coding|CODING|NM_002349.3|18|1)","GM12878:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.7873,0.5778,0.4304,0.42,0.39,0.44,,0.078215(N),0.999(P),"3.05,3.05,3.02,3.05,3.05(T,T,T,T,T)",0.0000(T),0.054,-0.439447,5.69,3.67,-0.120000,0.715000,1.124000,0.773000,1.000000,1.000000,7.5174
synonymous_variant,LY75-CD302,SILENT,NM_001198759.1:p.Thr459Thr/c.1377G>A,acG/acA,LOW,COSM1129533(3),0.21905,0.3224,rs11675155,,,,,,chr2,160737621,160737621,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr459Thr/c.1377G>A|1873|LY75-CD302|protein_coding|CODING|NM_001198759.1|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr459Thr/c.1377G>A|1817|LY75-CD302|protein_coding|CODING|NM_001198760.1|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr459Thr/c.1377G>A|1722|LY75|protein_coding|CODING|NM_002349.3|8|1)","IMR90:H3K27me3,GM06990:H3K36me3",,,,0.1892,0.3746,0.165,0.16,0.14,0.18,,,,,,,,,,,,,,,,
synonymous_variant,LY75-CD302,SILENT,NM_001198759.1:p.Leu402Leu/c.1204C>T,Cta/Tta,LOW,COSM4001264(1),0.213658,0.3185,rs16822581,,,,,,chr2,160738677,160738677,G,A,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu402Leu/c.1204C>T|1873|LY75-CD302|protein_coding|CODING|NM_001198759.1|7|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu402Leu/c.1204C>T|1817|LY75-CD302|protein_coding|CODING|NM_001198760.1|7|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu402Leu/c.1204C>T|1722|LY75|protein_coding|CODING|NM_002349.3|7|1)","IMR90:H3K27me3,GM06990:H3K36me3",,,,0.1881,0.3703,0.16,0.16,0.13,0.18,,,,,,,,,,,,,,,,
missense_variant,PLA2R1,MISSENSE,NM_007366.4:p.Gly1106Ser/c.3316G>A,Ggt/Agt,MODERATE,,0.249401,0.2917,rs3828323,0.82(T),"0.0,0.001,0.0(B,B,B)",-0.345(N),-0.9355(T),,chr2,160808075,160808075,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1106Ser/c.3316G>A|1324|PLA2R1|protein_coding|CODING|NM_001007267.2|24|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1106Ser/c.3316G>A|1461|PLA2R1|protein_coding|CODING|NM_001195641.1|24|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1106Ser/c.3316G>A|1463|PLA2R1|protein_coding|CODING|NM_007366.4|24|1)","HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.1902,0.2824,0.5169,0.36,0.11,0.49,,0.151168(N),1.000(P),"3.39,3.32(T,T)",0.0000(T),0.058,-1.336677,5.92,-3.0,-1.283000,-0.402000,-0.698000,0.005000,0.000000,0.000000,4.5914
synonymous_variant,PLA2R1,SILENT,NM_007366.4:p.Ser87Ser/c.261T>C,agT/agC,LOW,,0.457268,0.5992,rs4665143,,,,,,chr2,160901517,160901517,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser87Ser/c.261T>C|1324|PLA2R1|protein_coding|CODING|NM_001007267.2|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser87Ser/c.261T>C|1461|PLA2R1|protein_coding|CODING|NM_001195641.1|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser87Ser/c.261T>C|1463|PLA2R1|protein_coding|CODING|NM_007366.4|2|1)","K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4346,0.6614,0.6292,0.49,0.22,0.63,,,,,,,,,,,,,,,,
synonymous_variant,DPP4,SILENT,NM_001935.3:p.Leu8Leu/c.24T>C,ctT/ctC,LOW,COSM3757711(1),0.21266,0.0466,rs17574,,,,,,chr2,162929979,162929979,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu8Leu/c.24T>C|766|DPP4|protein_coding|CODING|NM_001935.3|2|1),"CD4:H2AZ,HepG2:H3K4me2,IMR90:H2BK120ac,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K9ac,CD4:H3K4me2,IMR90:H3K18ac,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,IMR90:H3K4me3",,,,0.2761,0.1744,0.3459,0.31,0.24,0.35,,,,,,,,,,,,,,,,
missense_variant,FAP,MISSENSE,NM_004460.3:p.Tyr124His/c.370T>C,Tac/Cac,MODERATE,,,,rs149591141,1(T),"0.042,0.036,0.036(B,B,B)",-0.695(N),-1.0343(T),,chr2,163080161,163080161,A,G,het,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr99His/c.295T>C|735|FAP|protein_coding|CODING|NM_001291807.1|5|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr124His/c.370T>C|760|FAP|protein_coding|CODING|NM_004460.3|6|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3",,,,,,,0.00,0.00,0.00,,0.000004(D),1.000(D),"1.83,1.83,1.83(T,T,T)",0.0221(T),0.156,-0.168783,5.51,4.36,-0.256000,1.045000,4.492000,0.983000,1.000000,1.000000,11.5268
missense_variant,IFIH1,MISSENSE,NM_022168.3:p.Ile923Val/c.2767A>G,Att/Gtt,MODERATE,,0.00239617,0,rs35667974,0.24(T),0.888(P),1.6(L),-1.0694(T),,chr2,163124637,163124637,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile923Val/c.2767A>G|1025|IFIH1|protein_coding|CODING|NM_022168.3|14|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0.0099,0.01,0.00,0.02,,0.000000(D),1.000(D),1.55(T),0.0741(T),0.225,3.347761,5.13,5.13,0.528000,1.932000,7.427000,0.768000,0.917000,1.000000,14.9508
missense_variant,GRB14,MISSENSE,NM_004490.2:p.Phe90Ile/c.268T>A,Ttt/Att,MODERATE,COSM3757716(1),0.443091,0.3571,rs61748245,0.43(T),0.027(B),0.69(N),-0.9849(T),,chr2,165476253,165476253,A,T,hom,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe90Ile/c.268T>A|540|GRB14|protein_coding|CODING|NM_004490.2|2|1),IMR90:H3K27me3,,,,0.4315,0.7392,0.6769,0.52,0.27,0.66,,0.002332(N),0.000(P),"2.02,1.61,1.0(T,T,T)",0.0000(T),0.196,1.743698,5.45,4.3,0.533000,0.913000,1.690000,0.999000,1.000000,0.975000,8.9411
missense_variant,COBLL1,MISSENSE,NM_001278458.1:p.Val393Met/c.1177G>A,Gtg/Atg,MODERATE,,0.0125799,0,rs74459242,0.07(T),"0.982,0.982,0.968(D,D,D)",1.5(L),-0.3090(T),,chr2,165578602,165578602,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val393Met/c.1177G>A|1233|COBLL1|protein_coding|CODING|NM_001278458.1|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val373Met/c.1117G>A|1174|COBLL1|protein_coding|CODING|NM_001278460.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val327Met/c.979G>A|1128|COBLL1|protein_coding|CODING|NM_001278461.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val327Met/c.979G>A|1166|COBLL1|protein_coding|CODING|NM_014900.4|6|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0092,0.0202,0.0368,0.03,0.01,0.05,,0.160815(N),1.000(N),-3.16(D),0.3848(T),0.096,2.073757,6.17,1.37,0.655000,0.180000,0.134000,0.406000,0.503000,0.099000,2.5206
synonymous_variant,SCN3A,SILENT,NM_006922.3:p.Thr677Thr/c.2031A>T,acA/acT,LOW,,0.634585,0.8165,rs1946892,,,,,,chr2,165996107,165996107,T,A,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr628Thr/c.1884A>T|1951|SCN3A|protein_coding|CODING|NM_001081676.1|14|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr628Thr/c.1884A>T|1951|SCN3A|protein_coding|CODING|NM_001081677.1|14|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr677Thr/c.2031A>T|2000|SCN3A|protein_coding|CODING|NM_006922.3|14|1)",,,,,0.5777,0.5778,0.4245,0.50,0.66,0.42,,,,,,,,,,,,,,,,
synonymous_variant,GALNT3,SILENT,NM_004482.3:p.Asn609Asn/c.1827T>C,aaT/aaC,LOW,,0.00459265,0,rs142136047,,,,,,chr2,166605366,166605366,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn609Asn/c.1827T>C|633|GALNT3|protein_coding|CODING|NM_004482.3|11|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.002,0.0058,0.0169,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,TTC21B,MISSENSE,NM_024753.4:p.Thr276Ala/c.826A>G,Aca/Gca,MODERATE,,0.948083,1,rs7592429,1(T),"0.0,0.0(B,B)",-1.74(N),-0.9408(T),,chr2,166788336,166788336,T,C,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr276Ala/c.826A>G|1316|TTC21B|protein_coding|CODING|NM_024753.4|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118732.2,,1,0.9813,0.999,0.95,0.84,1.00,,0.000747(N),0.000(P),0.79(T),0.0000(T),0.019,-0.683355,5.36,2.14,-0.119000,0.266000,1.682000,0.529000,0.958000,0.911000,11.4584
missense_variant,TTC21B,MISSENSE,NM_024753.4:p.Val201Met/c.601G>A,Gtg/Atg,MODERATE,,0.667332,0.7986,rs1432273,0.03(D),"0.942,0.95(D,D)",2.28(M),-0.9753(T),,chr2,166797646,166797646,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val201Met/c.601G>A|1316|TTC21B|protein_coding|CODING|NM_024753.4|6|1),intron_variant(MODIFIER|||n.221-6061C>T||TTC21B-AS1||NON_CODING|NR_038984.1|1|1),intron_variant(MODIFIER|||n.277-6061C>T||TTC21B-AS1||NON_CODING|NR_038983.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118729.2,,0.6718,0.7536,0.6322,0.60,0.59,0.61,,0.001049(N),0.000(P),0.73(T),0.0000(T),0.123,3.393885,5.38,2.52,-0.181000,0.311000,0.677000,0.966000,0.994000,0.109000,3.7843
missense_variant,SCN1A,MISSENSE,NM_001165963.1:p.Ala1067Thr/c.3199G>A,Gca/Aca,MODERATE,COSM3757723(1),0.788538,0.8899,rs2298771,0.64(T),"0.001,0.0,0.001(B,B,B)",0.06(N),-0.9302(T),,chr2,166892788,166892788,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1067Thr/c.3199G>A|2009|SCN1A|protein_coding|CODING|NM_001165963.1|16|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1039Thr/c.3115G>A|1981|SCN1A|protein_coding|CODING|NM_001165964.1|16|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1067Thr/c.3199G>A|2009|SCN1A|protein_coding|CODING|NM_001202435.1|18|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1056Thr/c.3166G>A|1998|SCN1A|protein_coding|CODING|NM_006920.4|16|1),non_coding_exon_variant(MODIFIER|||n.618C>T||LOC102724058||NON_CODING|NR_110598.1|4|1)",HepG2:H3K36me3,,RCV000030432.1|RCV000079572.3|RCV000127879.1,,0.726,0.7608,0.6918,0.72,0.82,0.68,,0.797044(N),1.000(P),"-3.9,-3.9,-3.86,-3.85(D,D,D,D)",0.0000(T),0.095,0.888762,5.3,-2.85,-0.972000,-0.778000,-0.565000,0.970000,0.841000,0.000000,16.3124
synonymous_variant,SCN1A,SILENT,NM_001165963.1:p.Val764Val/c.2292T>C,gtT/gtC,LOW,COSM3757728(1),0.788938,0.8909,rs6432860,,,,,,chr2,166897864,166897864,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val764Val/c.2292T>C|2009|SCN1A|protein_coding|CODING|NM_001165963.1|13|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val736Val/c.2208T>C|1981|SCN1A|protein_coding|CODING|NM_001165964.1|13|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val764Val/c.2292T>C|2009|SCN1A|protein_coding|CODING|NM_001202435.1|15|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val753Val/c.2259T>C|1998|SCN1A|protein_coding|CODING|NM_006920.4|13|1)",HepG2:H3K36me3,,RCV000030431.1|RCV000079565.3,,0.726,0.7594,0.6909,0.72,0.82,0.68,,,,,,,,,,,,,,,,
synonymous_variant,SCN1A,SILENT,NM_001165963.1:p.Val404Val/c.1212A>G,gtA/gtG,LOW,COSM3757729(1),0.709265,0.8909,rs7580482,,,,,,chr2,166903445,166903445,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val404Val/c.1212A>G|2009|SCN1A|protein_coding|CODING|NM_001165963.1|9|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val404Val/c.1212A>G|1981|SCN1A|protein_coding|CODING|NM_001165964.1|9|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val404Val/c.1212A>G|2009|SCN1A|protein_coding|CODING|NM_001202435.1|11|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val404Val/c.1212A>G|1998|SCN1A|protein_coding|CODING|NM_006920.4|9|1)",,,RCV000030430.1|RCV000079554.3,,0.726,0.7363,0.6909,0.64,0.57,0.68,,,,,,,,,,,,,,,,
stop_gained,SCN9A,NONSENSE,NM_002977.3:p.Trp1150*/c.3449G>A,tGg/tAg,HIGH,,,,,0(D),,,,SCN9A:1.00(1);SCN9A:1.00(1);,chr2,167099157,167099157,C,T,het,"stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp1150*/c.3449G>A|1977|SCN9A|protein_coding|CODING|NM_002977.3|19|1),intron_variant(MODIFIER|||n.612-5548C>T||LOC101929680||NON_CODING|NR_110260.1|4|1)",HepG2:H3K36me3,,,,,,,,,,,0.119239(N),1.000(A),,,.,10.078520,4.74,1.74,0.650000,0.100000,-1.074000,0.883000,0.817000,0.000000,6.0763
missense_variant,SCN9A,MISSENSE,NM_002977.3:p.Trp1150Arg/c.3448T>C,Tgg/Cgg,MODERATE,,0.887181,0.9593,rs6746030,1(T),0.0(B),-2.855(N),-0.9473(T),,chr2,167099158,167099158,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1150Arg/c.3448T>C|1977|SCN9A|protein_coding|CODING|NM_002977.3|19|1),intron_variant(MODIFIER|||n.612-5547A>G||LOC101929680||NON_CODING|NR_110260.1|4|1)",HepG2:H3K36me3,,RCV000020514.1,,0.817,0.8804,0.8738,0.88,0.89,0.87,,0.119239(N),1.000(P),"-1.51,-1.51,-1.51,-1.51(D,D,D,D)",0.0000(T),0.052,-1.412528,4.74,3.83,-0.128000,0.479000,0.951000,0.879000,0.788000,0.000000,5.279
synonymous_variant,SCN9A,SILENT,NM_002977.3:p.Arg429Arg/c.1287T>A,cgT/cgA,LOW,,0.546725,0.3839,rs6747673,,,,,,chr2,167144974,167144974,A,T,hom,"synonymous_variant(LOW|SILENT|cgT/cgA|p.Arg429Arg/c.1287T>A|1977|SCN9A|protein_coding|CODING|NM_002977.3|10|1),intron_variant(MODIFIER|||n.1030-6101A>T||LOC101929680||NON_CODING|NR_110260.1|8|1)",HepG2:H3K36me3,,RCV000118293.2,,0.4305,0.5432,0.4871,0.56,0.75,0.48,,,,,,,,,,,,,,,,
synonymous_variant,SCN9A,SILENT,NM_002977.3:p.Glu422Glu/c.1266A>G,gaA/gaG,LOW,,0.354433,0.3065,rs13402180,,,,,,chr2,167144995,167144995,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu422Glu/c.1266A>G|1977|SCN9A|protein_coding|CODING|NM_002977.3|10|1),intron_variant(MODIFIER|||n.1030-6080T>C||LOC101929680||NON_CODING|NR_110260.1|8|1)",HepG2:H3K36me3,,RCV000118292.2,,0.3712,0.3242,0.4036,0.39,0.38,0.39,,,,,,,,,,,,,,,,
synonymous_variant,SCN9A,SILENT,NM_002977.3:p.Ala373Ala/c.1119T>C,gcT/gcC,LOW,,0.354433,0.3065,rs13414203,,,,,,chr2,167145142,167145142,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala373Ala/c.1119T>C|1977|SCN9A|protein_coding|CODING|NM_002977.3|10|1),intron_variant(MODIFIER|||n.1030-5933A>G||LOC101929680||NON_CODING|NR_110260.1|8|1)",HepG2:H3K36me3,,RCV000118290.2,,0.3712,0.3242,0.4036,0.39,0.38,0.39,,,,,,,,,,,,,,,,
synonymous_variant,SCN9A,SILENT,NM_002977.3:p.Pro148Pro/c.444A>G,ccA/ccG,LOW,COSM3933365(2),0.641174,0.4593,rs9646771,,,,,,chr2,167163043,167163043,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro148Pro/c.444A>G|1977|SCN9A|protein_coding|CODING|NM_002977.3|4|1),HepG2:H3K36me3,,RCV000118307.2,,0.5685,0.6052,0.6342,0.71,0.84,0.66,,,,,,,,,,,,,,,,
synonymous_variant,SCN9A,SILENT,NM_002977.3:p.Gln58Gln/c.174G>A,caG/caA,LOW,,0.574281,0.4087,rs6432901,,,,,,chr2,167168093,167168093,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln58Gln/c.174G>A|1977|SCN9A|protein_coding|CODING|NM_002977.3|2|1),HepG2:H3K36me3,,RCV000118295.2,,0.5368,0.4611,0.6083,0.68,0.76,0.64,,,,,,,,,,,,,,,,
missense_variant,SCN7A,MISSENSE,NM_002976.3:p.Met958Ile/c.2874G>T,atG/atT,MODERATE,,0.744609,0.6468,rs386604770,1(T),0.0(B),-1.7(N),-0.9224(T),,chr2,167279922,167279922,C,A,hom,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met958Ile/c.2874G>T|1682|SCN7A|protein_coding|CODING|NM_002976.3|18|1),non_coding_exon_variant(MODIFIER|||n.3098G>T||SCN7A||CODING|NR_045628.1|19|1)",,,,,0.684,0.6772,0.661,0.76,0.93,0.68,,0.000022(N),0.999(P),-4.3(D),0.0000(T),0.046,-0.991170,4.65,-1.47,-1.346000,-0.667000,-1.242000,0.881000,0.977000,0.000000,0.7363
synonymous_variant,SCN7A,SILENT,NM_002976.3:p.Asn847Asn/c.2541T>C,aaT/aaC,LOW,,0.000399361,0,rs199873735,,,,,,chr2,167288879,167288879,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn847Asn/c.2541T>C|1682|SCN7A|protein_coding|CODING|NM_002976.3|15|1),non_coding_exon_variant(MODIFIER|||n.2765T>C||SCN7A||CODING|NR_045628.1|16|1)",,,,,0.001,0,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,SCN7A,MISSENSE,NM_002976.3:p.Arg683Gln/c.2048G>A,cGa/cAa,MODERATE,COSM402035(2),0.00638978,0,rs116825611,0(D),0.998(D),1.125(L),1.0260(D),,chr2,167298015,167298015,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg683Gln/c.2048G>A|1682|SCN7A|protein_coding|CODING|NM_002976.3|14|1),non_coding_exon_variant(MODIFIER|||n.2178G>A||SCN7A||CODING|NR_045628.1|14|1)",,,RCV000080037.1,,0.0276,0.0014,0.003,0.00,0.00,0.00,,0.000110(D),1.000(D),"-4.29,-4.29(D,D)",0.9099(D),0.752,4.350213,4.79,4.79,0.591000,2.650000,7.651000,0.282000,0.990000,1.000000,15.7091
missense_variant,SCN7A,MISSENSE,NM_002976.3:p.Thr41Asn/c.122C>A,aCt/aAt,MODERATE,COSM4001301(1),0.688698,0.6617,rs7565062,1(T),0.0(B),-2.125(N),-0.9462(T),,chr2,167334085,167334085,G,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr41Asn/c.122C>A|1682|SCN7A|protein_coding|CODING|NM_002976.3|2|1),non_coding_exon_variant(MODIFIER|||n.252C>A||SCN7A||CODING|NR_045628.1|2|1)",,,,,0.684,0.6499,0.661,0.70,0.75,0.68,,0.202406(N),1.000(P),"-3.89,-3.94,-4.57(D,D,D)",0.0000(T),0.078,-2.428781,4.63,1.11,-0.256000,-0.132000,-0.624000,0.167000,0.011000,0.000000,6.0227
missense_variant,NOSTRIN,MISSENSE,NM_001171631.1:p.Thr238Ile/c.713C>T,aCa/aTa,MODERATE,COSM1009085(1),0.461462,0.6121,rs540652,0.15(T),0.001(B),,-0.9437(T),,chr2,169707428,169707428,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr238Ile/c.713C>T|563|NOSTRIN|protein_coding|CODING|NM_001171631.1|13|1),intron_variant(MODIFIER|||c.631-166C>T|506|NOSTRIN|protein_coding|CODING|NM_001039724.3|8|1),intron_variant(MODIFIER|||c.547-166C>T|478|NOSTRIN|protein_coding|CODING|NM_001171632.1|7|1),intron_variant(MODIFIER|||c.397-166C>T|428|NOSTRIN|protein_coding|CODING|NM_052946.3|7|1)",K562:H3K36me3,,,,0.6401,0.4957,0.4811,0.40,0.23,0.47,,,1.000(P),"1.48,1.48(T,T)",0.0000(T),0.028,1.273984,4.91,-0.516,0.655000,0.000000,-1.395000,0.003000,0.001000,0.000000,3.9947
missense_variant,NOSTRIN,MISSENSE,NM_001171631.1:p.Gly530Glu/c.1589G>A,gGa/gAa,MODERATE,,0.907149,0.9395,rs479661,0.77(T),"0.0,0.0,0.0,0.001(B,B,B,B)",0.255(N),-0.9649(T),,chr2,169721377,169721377,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly473Glu/c.1418G>A|506|NOSTRIN|protein_coding|CODING|NM_001039724.3|16|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly530Glu/c.1589G>A|563|NOSTRIN|protein_coding|CODING|NM_001171631.1|21|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly445Glu/c.1334G>A|478|NOSTRIN|protein_coding|CODING|NM_001171632.1|15|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly395Glu/c.1184G>A|428|NOSTRIN|protein_coding|CODING|NM_052946.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9448,0.8098,0.832,0.87,0.95,0.83,,0.021320(N),0.000(P),"1.64,1.64,1.64,1.64,1.64,1.64,1.64(T,T,T,T,T,T,T)",0.0000(T),0.152,0.255043,4.96,4.96,-0.381000,0.834000,2.153000,0.991000,1.000000,1.000000,8.8432
synonymous_variant,NOSTRIN,SILENT,NM_001171631.1:p.Gly531Gly/c.1593A>G,ggA/ggG,LOW,,0.207268,0.2688,rs386589657,,,,,,chr2,169721381,169721381,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly474Gly/c.1422A>G|506|NOSTRIN|protein_coding|CODING|NM_001039724.3|16|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly531Gly/c.1593A>G|563|NOSTRIN|protein_coding|CODING|NM_001171631.1|21|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly446Gly/c.1338A>G|478|NOSTRIN|protein_coding|CODING|NM_001171632.1|15|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly396Gly/c.1188A>G|428|NOSTRIN|protein_coding|CODING|NM_052946.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.228,0.1974,0.2903,0.25,0.10,0.32,,,,,,,,,,,,,,,,
missense_variant,G6PC2,MISSENSE,NM_021176.2:p.Val219Leu/c.655G>C,Gtt/Ctt,MODERATE,COSM148982(3),0.463458,0.4335,rs492594,1(T),0.0(B),-0.775(N),-0.9368(T),,chr2,169764176,169764176,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val219Leu/c.655G>C|355|G6PC2|protein_coding|CODING|NM_021176.2|5|1),3_prime_UTR_variant(MODIFIER||74|c.*74G>C|154|G6PC2|protein_coding|CODING|NM_001081686.1|4|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6503,0.5634,0.4443,0.41,0.32,0.46,,0.120047(N),0.000(P),-0.83(T),0.0000(T),0.057,-0.375122,5.86,3.06,-0.824000,0.398000,2.141000,0.655000,0.882000,0.973000,5.6207
synonymous_variant,ABCB11,SILENT,NM_003742.2:p.Ala1028Ala/c.3084A>G,gcA/gcG,LOW,COSM148984(1),0.496805,0.6409,rs497692,,,,,,chr2,169789016,169789016,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1028Ala/c.3084A>G|1321|ABCB11|protein_coding|CODING|NM_003742.2|24|1),NHEK:H3K27me3,,,,0.6708,0.5086,0.5318,0.45,0.27,0.54,,,,,,,,,,,,,,,,
missense_variant,ABCB11,MISSENSE,NM_003742.2:p.Val444Ala/c.1331T>C,gTc/gCc,MODERATE,,0.588658,0.6984,rs2287622,0.34(T),0.003(B),-0.5(N),-0.8962(T),,chr2,169830328,169830328,A,G,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val444Ala/c.1331T>C|1321|ABCB11|protein_coding|CODING|NM_003742.2|13|1),,,,,0.6033,0.4524,0.6044,0.60,0.59,0.60,,0.060788(N),0.076(P),-3.2(D),0.0000(T),0.08,2.019565,5.78,4.62,0.533000,1.114000,2.033000,0.924000,1.000000,0.929000,11.852
synonymous_variant,DHRS9,SILENT,NM_001289763.1:p.Leu366Leu/c.1096T>C,Ttg/Ctg,LOW,COSM3757751(2),0.27476,0.3214,rs1059261,,,,,,chr2,169952233,169952233,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu306Leu/c.916T>C|319|DHRS9|protein_coding|CODING|NM_001142270.1|6|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu306Leu/c.916T>C|319|DHRS9|protein_coding|CODING|NM_001142271.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu366Leu/c.1096T>C|379|DHRS9|protein_coding|CODING|NM_001289763.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu306Leu/c.916T>C|319|DHRS9|protein_coding|CODING|NM_199204.1|6|1)","HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,H1ESC:H3K27me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Cjun,K562:FOSL1,HeLa-S3:Ap2alpha,CD4:H4K5ac,HeLa-S3:Ap2gamma,HeLa-S3:Cfos,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1,K562:Jund",,,,0.1411,0.2522,0.1799,0.26,0.37,0.20,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Ile4371Ile/c.13113C>T,atC/atT,LOW,COSM3757753(1),0.559505,0.4752,rs990626,,,,,,chr2,169997051,169997051,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile4371Ile/c.13113C>T|4655|LRP2|protein_coding|CODING|NM_004525.2|72|1),"H1ESC:DNase1,HepG2:H3K27me3",,RCV000117510.2,,0.7791,0.6888,0.7266,0.60,0.32,0.74,,,,,,,,,,,,,,,,
missense_variant,LRP2,MISSENSE,NM_004525.2:p.Ile4210Leu/c.12628A>C,Atc/Ctc,MODERATE,COSM1401028(2),0.555911,0.4901,rs4667591,0.03(D),0.992(D),3.105(M),-0.9028(T),,chr2,170003432,170003432,T,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile4210Leu/c.12628A>C|4655|LRP2|protein_coding|CODING|NM_004525.2|69|1),HepG2:H3K27me3,,RCV000117509.2,,0.8119,0.7277,0.7932,0.60,0.24,0.79,,0.000000(N),0.000(P),-3.03(D),0.0000(T),0.301,4.841405,5.67,4.5,0.533000,0.957000,6.284000,0.969000,1.000000,1.000000,12.9499
missense_variant,LRP2,MISSENSE,NM_004525.2:p.Lys4094Glu/c.12280A>G,Aag/Gag,MODERATE,COSM4001308(1),0.777955,0.5208,rs2075252,1(T),0.0(B),-1.845(N),-0.9329(T),,chr2,170010985,170010985,T,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys4094Glu/c.12280A>G|4655|LRP2|protein_coding|CODING|NM_004525.2|66|1),,,RCV000117508.2,,0.865,0.7867,0.7624,0.80,0.89,0.76,,0.000000(N),0.000(P),-2.83(D),0.0000(T),0.034,1.103012,5.55,5.55,-0.119000,1.341000,4.788000,0.930000,0.187000,1.000000,14.6515
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Gln3501Gln/c.10503G>A,caG/caA,LOW,COSM4133222(1),0.379593,0.1062,rs2229265,,,,,,chr2,170032989,170032989,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln3501Gln/c.10503G>A|4655|LRP2|protein_coding|CODING|NM_004525.2|54|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,RCV000117498.2,,0.4744,0.6268,0.496,0.45,0.32,0.52,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Thr2457Thr/c.7371T>A,acT/acA,LOW,,,,rs142471619,,,,,,chr2,170062859,170062859,A,T,het,synonymous_variant(LOW|SILENT|acT/acA|p.Thr2457Thr/c.7371T>A|4655|LRP2|protein_coding|CODING|NM_004525.2|39|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Ala1220Ala/c.3660A>G,gcA/gcG,LOW,,0.581869,0.4772,rs831042,,,,,,chr2,170099473,170099473,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1220Ala/c.3660A>G|4655|LRP2|protein_coding|CODING|NM_004525.2|24|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000117527.2,,0.7546,0.6153,0.4612,0.50,0.61,0.45,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Thr1023Thr/c.3069A>G,acA/acG,LOW,,0.61861,0.4792,rs831043,,,,,,chr2,170103336,170103336,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1023Thr/c.3069A>G|4655|LRP2|protein_coding|CODING|NM_004525.2|21|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000117524.2,,0.773,0.6369,0.4622,0.54,0.69,0.46,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Thr1018Thr/c.3054C>A,acC/acA,LOW,,0.45647,0.4792,rs2075249,,,,,,chr2,170103351,170103351,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1018Thr/c.3054C>A|4655|LRP2|protein_coding|CODING|NM_004525.2|21|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000117523.2,,0.6892,0.5591,0.4632,0.40,0.29,0.46,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Thr820Thr/c.2460A>G,acA/acG,LOW,,0.622404,0.4841,rs2241190,,,,,,chr2,170115588,170115588,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr820Thr/c.2460A>G|4655|LRP2|protein_coding|CODING|NM_004525.2|17|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000117518.2,,0.7771,0.6383,0.4791,0.54,0.69,0.47,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Val675Val/c.2025C>T,gtC/gtT,LOW,,0.609625,0.8859,rs830994,,,,,,chr2,170129528,170129528,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val675Val/c.2025C>T|4655|LRP2|protein_coding|CODING|NM_004525.2|15|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000117515.2,,0.4908,0.5014,0.661,0.62,0.52,0.67,,,,,,,,,,,,,,,,
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Asp213Asp/c.639C>T,gaC/gaT,LOW,COSM3757758(1),0.370208,0.4643,rs2229266,,,,,,chr2,170150671,170150671,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp213Asp/c.639C>T|4655|LRP2|protein_coding|CODING|NM_004525.2|6|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000117541.2,,0.3374,0.487,0.2386,0.28,0.33,0.26,,,,,,,,,,,,,,,,
missense_variant,LRP2,MISSENSE,NM_004525.2:p.Asn83Ser/c.248A>G,aAc/aGc,MODERATE,COSM4001310(1),0.30631,0.2758,rs2229263,,"0.001,0.005(B,B)",-0.295(N),-0.9866(T),,chr2,170175334,170175334,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn83Ser/c.248A>G|4655|LRP2|protein_coding|CODING|NM_004525.2|3|1),"GM12878:H3K36me3,NHEK:H3K27me3",,RCV000117519.2,,0.1963,0.2118,0.2783,0.34,0.43,0.29,,0.021945(N),1.000(P),"-3.67,-3.67(D,D)",0.0000(T),0.018,0.330732,6.02,-6.27,0.533000,-1.027000,-0.760000,0.024000,0.000000,0.000000,2.1449
synonymous_variant,LRP2,SILENT,NM_004525.2:p.Ala21Ala/c.63G>C,gcG/gcC,LOW,COSM3749605(2),0.984625,1,rs1559014,,,,,,chr2,170218847,170218847,C,G,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala21Ala/c.63G>C|4655|LRP2|protein_coding|CODING|NM_004525.2|1|1),"K562:H3K4me3,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,RCV000117542.2,,1,0.9914,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,FASTKD1,MISSENSE,NM_024622.4:p.Met467Val/c.1399A>G,Atg/Gtg,MODERATE,,0.542931,0.5089,rs2253680,0.85(T),"0.002,0.001(B,B)",0(N),-0.9445(T),,chr2,170403030,170403030,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met467Val/c.1399A>G|804|FASTKD1|protein_coding|CODING|NM_001281476.1|8|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met467Val/c.1399A>G|847|FASTKD1|protein_coding|CODING|NM_024622.4|8|1),non_coding_exon_variant(MODIFIER|||n.1794A>G||FASTKD1||CODING|NR_104020.1|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4816,0.6744,0.6163,0.56,0.50,0.58,,0.802567(N),1.000(P),"2.29,2.3(T,T)",0.0000(T),0.018,-2.500765,4.57,-9.13,-1.444000,-1.957000,-0.132000,0.000000,0.000000,0.000000,3.3797
synonymous_variant,FASTKD1,SILENT,NM_024622.4:p.Leu385Leu/c.1155A>G,ttA/ttG,LOW,COSM4133232(1),0.679513,0.755,rs2683455,,,,,,chr2,170411693,170411693,T,C,hom,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu385Leu/c.1155A>G|804|FASTKD1|protein_coding|CODING|NM_001281476.1|7|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu385Leu/c.1155A>G|847|FASTKD1|protein_coding|CODING|NM_024622.4|7|1),non_coding_exon_variant(MODIFIER|||n.1550A>G||FASTKD1||CODING|NR_104020.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5409,0.7522,0.6779,0.66,0.68,0.65,,,,,,,,,,,,,,,,
synonymous_variant,PHOSPHO2-KLHL23,SILENT,NM_001199290.1:p.Gly472Gly/c.1416C>T,ggC/ggT,LOW,,0.992412,1,rs4667607,,,,,,chr2,170605981,170605981,C,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly472Gly/c.1416C>T|558|PHOSPHO2-KLHL23|protein_coding|CODING|NM_001199290.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly472Gly/c.1416C>T|558|KLHL23|protein_coding|CODING|NM_144711.5|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,UBR3,SILENT,NM_172070.3:p.Leu557Leu/c.1671A>T,ctA/ctT,LOW,COSM3757765(2),0.277157,0.376,rs10194785,,,,,,chr2,170762566,170762566,A,T,het,synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu557Leu/c.1671A>T|1888|UBR3|protein_coding|CODING|NM_172070.3|10|1),"K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3712,0.1945,0.1581,0.20,0.28,0.17,,,,,,,,,,,,,,,,
synonymous_variant,UBR3,SILENT,NM_172070.3:p.Leu1615Leu/c.4845A>G,ctA/ctG,LOW,,0.332069,0.4077,rs10203212,,,,-1.0172(T),,chr2,170917648,170917648,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1615Leu/c.4845A>G|1888|UBR3|protein_coding|CODING|NM_172070.3|34|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4519,0.1945,0.2525,0.28,0.33,0.26,,,0.000(P),,0.0000(T),.,0.578734,6.06,-10.7,-1.237000,-2.018000,-0.900000,0.929000,0.451000,0.049000,6.0718
synonymous_variant,MYO3B,SILENT,NM_138995.4:p.Thr115Thr/c.345T>C,acT/acC,LOW,COSM3757767(2),0.417732,0.4494,rs13385825,,,,,,chr2,171070912,171070912,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr115Thr/c.345T>C|1314|MYO3B|protein_coding|CODING|NM_001083615.3|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr115Thr/c.345T>C|1341|MYO3B|protein_coding|CODING|NM_138995.4|4|1),non_coding_exon_variant(MODIFIER|||n.488T>C||MYO3B||CODING|NR_045682.1|4|1),non_coding_exon_variant(MODIFIER|||n.488T>C||MYO3B||CODING|NR_045683.1|4|1),non_coding_exon_variant(MODIFIER|||n.488T>C||MYO3B||CODING|NR_045684.1|4|1)","H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H4K5ac,NHEK:H3K36me3,GM12878:DNase1,HepG2:H3K27me3",,,,0.4479,0.33,0.3787,0.39,0.41,0.39,,,0.000(P),,,.,0.958801,5.5,-11.0,-0.802000,-3.781000,-3.150000,0.975000,0.025000,0.000000,3.259
missense_variant,MYO3B,MISSENSE,NM_138995.4:p.Arg185His/c.554G>A,cGt/cAt,MODERATE,,0.00259585,0.002,rs55911154,0.13(T),"0.19,0.581,0.198,0.581(B,P,B,P)",1.38(L),-0.7227(T),,chr2,171073856,171073856,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg185His/c.554G>A|1314|MYO3B|protein_coding|CODING|NM_001083615.3|6|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg185His/c.554G>A|1341|MYO3B|protein_coding|CODING|NM_138995.4|6|1),non_coding_exon_variant(MODIFIER|||n.697G>A||MYO3B||CODING|NR_045682.1|6|1),non_coding_exon_variant(MODIFIER|||n.697G>A||MYO3B||CODING|NR_045683.1|6|1),non_coding_exon_variant(MODIFIER|||n.697G>A||MYO3B||CODING|NR_045684.1|6|1)","H1ESC:H3K27ac,NHEK:H3K36me3",,,,0.002,0.0029,0.007,0.00,0.00,0.01,,0.000000(D),1.000(D),"-0.18,-0.18,-0.18,-0.18(T,T,T,T)",0.2088(T),0.854,2.095843,6.06,6.06,0.655000,2.882000,9.346000,0.390000,0.743000,1.000000,20.6208
synonymous_variant,MYO3B,SILENT,NM_138995.4:p.Pro195Pro/c.585G>A,ccG/ccA,LOW,,0.576677,0.5714,rs2161916,,,,-1.0971(T),,chr2,171073887,171073887,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro195Pro/c.585G>A|1314|MYO3B|protein_coding|CODING|NM_001083615.3|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro195Pro/c.585G>A|1341|MYO3B|protein_coding|CODING|NM_138995.4|6|1),non_coding_exon_variant(MODIFIER|||n.728G>A||MYO3B||CODING|NR_045682.1|6|1),non_coding_exon_variant(MODIFIER|||n.728G>A||MYO3B||CODING|NR_045683.1|6|1),non_coding_exon_variant(MODIFIER|||n.728G>A||MYO3B||CODING|NR_045684.1|6|1)","H1ESC:H3K27ac,NHEK:H3K36me3",,,,0.6339,0.4179,0.5636,0.58,0.63,0.55,,,0.000(P),,0.0000(T),.,0.690037,6.06,-7.85,-0.254000,-2.287000,-1.854000,0.841000,0.468000,0.000000,12.0644
missense_variant,MYO3B,MISSENSE,NM_138995.4:p.Lys309Glu/c.925A>G,Aag/Gag,MODERATE,COSM3736223(4),0.302516,0.4216,rs4668246,1(T),"0.003,0.001,0.002,0.001(B,B,B,B)",0.235(N),-0.9101(T),,chr2,171225841,171225841,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys309Glu/c.925A>G|1314|MYO3B|protein_coding|CODING|NM_001083615.3|9|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys309Glu/c.925A>G|1341|MYO3B|protein_coding|CODING|NM_138995.4|9|1),non_coding_exon_variant(MODIFIER|||n.1068A>G||MYO3B||CODING|NR_045682.1|9|1),non_coding_exon_variant(MODIFIER|||n.1068A>G||MYO3B||CODING|NR_045683.1|9|1),non_coding_exon_variant(MODIFIER|||n.1068A>G||MYO3B||CODING|NR_045684.1|9|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2996,0.4164,0.4056,0.31,0.11,0.40,,0.041812(N),0.955(P),"-1.09,-1.1,-1.09,-1.1(T,T,T,T)",0.0000(T),0.261,0.124723,6.06,3.72,0.528000,1.104000,2.472000,0.989000,1.000000,1.000000,7.3084
synonymous_variant,MYO3B,SILENT,NM_138995.4:p.Arg405Arg/c.1215C>T,cgC/cgT,LOW,COSM1564692(4),0.215455,0.2887,rs11675394,,,,,,chr2,171240249,171240249,C,T,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg405Arg/c.1215C>T|1314|MYO3B|protein_coding|CODING|NM_001083615.3|12|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg405Arg/c.1215C>T|1341|MYO3B|protein_coding|CODING|NM_138995.4|12|1),non_coding_exon_variant(MODIFIER|||n.1358C>T||MYO3B||CODING|NR_045682.1|12|1),non_coding_exon_variant(MODIFIER|||n.1358C>T||MYO3B||CODING|NR_045683.1|12|1),non_coding_exon_variant(MODIFIER|||n.1358C>T||MYO3B||CODING|NR_045684.1|12|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.2536,0.2493,0.325,0.25,0.09,0.33,,,,,,,,,,,,,,,,
missense_variant,MYO3B,MISSENSE,NM_138995.4:p.Val770Ile/c.2308G>A,Gta/Ata,MODERATE,,0.780152,0.7292,rs6736609,0.2(T),"0.003,0.002,0.003(B,B,B)",0.77(N),-0.9815(T),,chr2,171260787,171260787,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val770Ile/c.2308G>A|1314|MYO3B|protein_coding|CODING|NM_001083615.3|20|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val770Ile/c.2308G>A|1341|MYO3B|protein_coding|CODING|NM_138995.4|20|1),non_coding_exon_variant(MODIFIER|||n.2451G>A||MYO3B||CODING|NR_045682.1|20|1),non_coding_exon_variant(MODIFIER|||n.2451G>A||MYO3B||CODING|NR_045683.1|20|1),non_coding_exon_variant(MODIFIER|||n.2451G>A||MYO3B||CODING|NR_045684.1|20|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7648,0.889,0.8966,0.84,0.73,0.90,,0.230141(N),1.000(P),"-2.21,-2.21,-2.21,-2.21(D,D,D,D)",0.0000(T),0.212,0.265211,5.47,-7.46,-1.213000,-1.626000,-0.022000,0.031000,0.000000,0.000000,14.019
missense_variant,MYO3B,MISSENSE,NM_138995.4:p.Glu773Gly/c.2318A>G,gAa/gGa,MODERATE,COSM4001318(2),0.248403,0.2718,rs33962844,0.2(T),"0.018,0.002,0.021(B,B,B)",3.02(M),-1.0497(T),,chr2,171260797,171260797,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu773Gly/c.2318A>G|1314|MYO3B|protein_coding|CODING|NM_001083615.3|20|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu773Gly/c.2318A>G|1341|MYO3B|protein_coding|CODING|NM_138995.4|20|1),non_coding_exon_variant(MODIFIER|||n.2461A>G||MYO3B||CODING|NR_045682.1|20|1),non_coding_exon_variant(MODIFIER|||n.2461A>G||MYO3B||CODING|NR_045683.1|20|1),non_coding_exon_variant(MODIFIER|||n.2461A>G||MYO3B||CODING|NR_045684.1|20|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3037,0.4251,0.3509,0.26,0.08,0.35,,0.024413(N),0.778(P),"-0.7,-0.7,-0.7,-0.7(T,T,T,T)",0.0000(T),0.43,1.061972,5.47,-0.0558,0.533000,-0.159000,2.485000,0.262000,0.068000,0.996000,3.7409
synonymous_variant,MYO3B,SILENT,NM_138995.4:p.Leu781Leu/c.2341T>C,Ttg/Ctg,LOW,,0.78095,0.7321,rs6751520,,,,,,chr2,171260820,171260820,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu781Leu/c.2341T>C|1314|MYO3B|protein_coding|CODING|NM_001083615.3|20|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu781Leu/c.2341T>C|1341|MYO3B|protein_coding|CODING|NM_138995.4|20|1),non_coding_exon_variant(MODIFIER|||n.2484T>C||MYO3B||CODING|NR_045682.1|20|1),non_coding_exon_variant(MODIFIER|||n.2484T>C||MYO3B||CODING|NR_045683.1|20|1),non_coding_exon_variant(MODIFIER|||n.2484T>C||MYO3B||CODING|NR_045684.1|20|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7658,0.889,0.8966,0.84,0.73,0.90,,,,,,,,,,,,,,,,
synonymous_variant,MYO3B,SILENT,NM_138995.4:p.Val1037Val/c.3111A>G,gtA/gtG,LOW,,0.979233,0.9911,rs6761297,,,,,,chr2,171355198,171355198,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1037Val/c.3111A>G|1314|MYO3B|protein_coding|CODING|NM_001083615.3|26|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1037Val/c.3111A>G|1341|MYO3B|protein_coding|CODING|NM_138995.4|26|1),non_coding_exon_variant(MODIFIER|||n.3254A>G||MYO3B||CODING|NR_045682.1|26|1),non_coding_exon_variant(MODIFIER|||n.3254A>G||MYO3B||CODING|NR_045683.1|26|1),non_coding_exon_variant(MODIFIER|||n.3254A>G||MYO3B||CODING|NR_045684.1|26|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9928,0.9755,0.999,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,MYO3B,MISSENSE,NM_138995.4:p.Arg1082Lys/c.3245G>A,aGg/aAg,MODERATE,,0.903355,0.9911,rs10185178,1(T),"0.008,0.006,0.003(B,B,B)",-0.15(N),-0.9349(T),,chr2,171356274,171356274,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1082Lys/c.3245G>A|1314|MYO3B|protein_coding|CODING|NM_001083615.3|27|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1082Lys/c.3245G>A|1341|MYO3B|protein_coding|CODING|NM_138995.4|27|1),non_coding_exon_variant(MODIFIER|||n.3388G>A||MYO3B||CODING|NR_045682.1|27|1),non_coding_exon_variant(MODIFIER|||n.3388G>A||MYO3B||CODING|NR_045683.1|27|1),non_coding_exon_variant(MODIFIER|||n.3388G>A||MYO3B||CODING|NR_045684.1|27|1)","GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9908,0.9496,0.998,0.92,0.74,1.00,,0.000057(D),0.341(P),"-0.53,1.69,-0.53,1.69(T,T,T,T)",0.0000(T),0.206,0.469021,5.68,3.88,-0.137000,1.404000,1.071000,0.835000,0.999000,1.000000,9.2983
synonymous_variant,SP5,SILENT,NM_001003845.2:p.Pro156Pro/c.468G>T,ccG/ccT,LOW,COSM1133002(6),0.20647,0.1815,rs1134626,,,,,,chr2,171573185,171573185,G,T,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro156Pro/c.468G>T|398|SP5|protein_coding|CODING|NM_001003845.2|2|1),intron_variant(MODIFIER|||n.376+6829C>A||LOC101926913||NON_CODING|NR_110185.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HepG2:H3K27me3",,,,0.3262,0.2017,0.3579,0.25,0.08,0.32,,,,,,,,,,,,,,,,
missense_variant,ERICH2,MISSENSE,NM_001290030.1:p.Leu162Arg/c.485T>G,cTg/cGg,MODERATE,,0.953874,1,rs1861462,,,,,,chr2,171627676,171627676,T,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu162Arg/c.485T>G|436|ERICH2|protein_coding|CODING|NM_001290030.1|1|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu162Arg/c.485T>G|208|ERICH2|protein_coding|CODING|NM_001290031.1|1|1),upstream_gene_variant(MODIFIER||400|||LOC101926913||NON_CODING|NR_110185.1||1),non_coding_exon_variant(MODIFIER|||n.485T>G||ERICH2||CODING|NR_110644.1|1|1)","NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Cmyc,HMEC:H3K27me3,K562:E2F6,K562:H3K9ac,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9841,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,GAD1,SILENT,NM_000817.2:p.His37His/c.111T>C,caT/caC,LOW,COSM1401224(2),0.357228,0.506,rs769404,,,,,,chr2,171678625,171678625,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His37His/c.111T>C|594|GAD1|protein_coding|CODING|NM_000817.2|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His37His/c.111T>C|224|GAD1|protein_coding|CODING|NM_013445.3|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3845,0.3703,0.4324,0.34,0.19,0.41,,,,,,,,,,,,,,,,
synonymous_variant,GORASP2,SILENT,NM_015530.4:p.Ser395Ser/c.1185C>T,tcC/tcT,LOW,COSM4133233(1),0.840256,1,rs4668356,,,,,,chr2,171822466,171822466,C,T,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser327Ser/c.981C>T|384|GORASP2|protein_coding|CODING|NM_001201428.1|10|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser395Ser/c.1185C>T|452|GORASP2|protein_coding|CODING|NM_015530.4|10|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",Cognitive_performance,,,0.9877,0.902,0.9344,0.82,0.59,0.93,,,,,,,,,,,,,,,,
synonymous_variant,TLK1,SILENT,NM_012290.4:p.Gln230Gln/c.690G>A,caG/caA,LOW,COSM3757770(1),0.11242,0.0437,rs11553951,,,,,,chr2,171910313,171910313,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln182Gln/c.546G>A|718|TLK1|protein_coding|CODING|NM_001136554.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln134Gln/c.402G>A|670|TLK1|protein_coding|CODING|NM_001136555.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln230Gln/c.690G>A|766|TLK1|protein_coding|CODING|NM_012290.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1135,0.1484,0.2783,0.20,0.05,0.27,,,,,,,,,,,,,,,,
stop_lost,METTL8,MISSENSE,NM_024770.3:p.Ter379Argext*?/c.1135T>C,Tga/Cga,HIGH,,0.998203,1,rs10205459,,,,-1.0474(T),,chr2,172180771,172180771,A,G,hom,stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter379Argext*?/c.1135T>C|407|METTL8|protein_coding|CODING|NM_024770.3|10|1),"GM12878:H3K27ac,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27ac,GM12878:SP1,GM12878:MEF2A,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,,,1,1,1,1.00,0.99,1.00,,,1.000(P),,0.0000(T),.,4.606879,5.63,5.63,-0.213000,1.535000,5.332000,0.947000,1.000000,1.000000,15.1316
missense_variant,CYBRD1,MISSENSE,NM_024843.3:p.Ser266Asn/c.797G>A,aGt/aAt,MODERATE,,0.683107,0.3958,rs10455,0.64(T),0.001(B),0.28(N),-0.9261(T),,chr2,172411273,172411273,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser208Asn/c.623G>A|228|CYBRD1|protein_coding|CODING|NM_001256909.1|4|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser266Asn/c.797G>A|286|CYBRD1|protein_coding|CODING|NM_024843.3|4|1),3_prime_UTR_variant(MODIFIER||114|c.*114G>A|157|CYBRD1|protein_coding|CODING|NM_001127383.1|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7178,0.6009,0.666,0.73,0.88,0.66,,0.315126(N),0.165(P),"0.39,0.4(T,T)",0.0000(T),0.009,0.215404,5.16,-3.33,-0.972000,-1.628000,-1.717000,0.822000,0.269000,0.000000,20.0263
stop_gained,SLC25A12,NONSENSE,NM_003705.4:p.Gln273*/c.817C>T,Cag/Tag,HIGH,,,,,0.21(T),,,,SLC25A12:0.50(2);SLC25A12:0.50(2);,chr2,172690501,172690501,G,A,het,"stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln273*/c.817C>T|678|SLC25A12|protein_coding|CODING|NM_003705.4|8|1),non_coding_exon_variant(MODIFIER|||n.793C>T||SLC25A12||CODING|NR_047549.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.001954(N),1.000(A),,,.,5.034105,5.31,5.31,0.650000,2.635000,9.725000,0.992000,1.000000,1.000000,19.3306
synonymous_variant,SLC25A12,SILENT,NM_003705.4:p.Tyr33Tyr/c.99T>C,taT/taC,LOW,,0.790935,0.9157,rs1878583,,,,,,chr2,172725301,172725301,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr33Tyr/c.99T>C|678|SLC25A12|protein_coding|CODING|NM_003705.4|3|1),non_coding_exon_variant(MODIFIER|||n.191T>C||SLC25A12||CODING|NR_047549.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8579,0.7305,0.9225,0.81,0.63,0.91,,,,,,,,,,,,,,,,
synonymous_variant,DLX2,SILENT,NM_004405.3:p.Gln175Gln/c.525A>G,caA/caG,LOW,COSM3766522(2),0.358826,0.6587,rs2228184,,,,,,chr2,172966250,172966250,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln175Gln/c.525A>G|328|DLX2|protein_coding|CODING|NM_004405.3|2|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.3988,0.3098,0.3907,0.31,0.15,0.40,,,,,,,,,,,,,,,,
missense_variant,ZAK,MISSENSE,NM_016653.2:p.Ser531Leu/c.1592C>T,tCg/tTg,MODERATE,COSM3757779(1),0.245407,0.2123,rs3769148,0.35(T),0.0(B),0.345(N),-0.9545(T),,chr2,174128513,174128513,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser531Leu/c.1592C>T|800|ZAK|protein_coding|CODING|NM_016653.2|19|1),intron_variant(MODIFIER|||n.463+7726G>A||MLK7-AS1||NON_CODING|NR_033882.1|2|1)","K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3078,0.2867,0.4831,0.37,0.09,0.49,,0.759278(N),1.000(P),"-0.98,-0.98(T,T)",0.0000(T),0.041,0.654931,5.74,0.342,-0.176000,-0.223000,0.555000,0.015000,0.001000,0.000000,2.4273
synonymous_variant,SP9,SILENT,NM_001145250.1:p.Ala462Ala/c.1386A>G,gcA/gcG,LOW,COSM4133243(1),0.0191693,0,rs368984751,,,,,,chr2,175202199,175202199,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala462Ala/c.1386A>G|484|SP9|protein_coding|CODING|NM_001145250.1|2|1),"H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,K562:DNase1",,,,0.0123,0.0173,0.0179,,,,,,,,,,,,,,,,,,,
synonymous_variant,GPR155,SILENT,NM_001033045.3:p.Asn820Asn/c.2460C>T,aaC/aaT,LOW,COSM3757781(1),0.213658,0.2143,rs6757461,,,,,,chr2,175300997,175300997,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn820Asn/c.2460C>T|870|GPR155|protein_coding|CODING|NM_001033045.3|17|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn820Asn/c.2460C>T|870|GPR155|protein_coding|CODING|NM_001267050.1|17|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn792Asn/c.2376C>T|842|GPR155|protein_coding|CODING|NM_001267051.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn820Asn/c.2460C>T|870|GPR155|protein_coding|CODING|NM_152529.6|16|1)","HUVEC:DNase1,NHEK:H3K36me3",,,,0.228,0.1974,0.3827,0.27,0.12,0.34,,,,,,,,,,,,,,,,
missense_variant,WIPF1,MISSENSE,NM_001077269.1:p.Pro198Leu/c.593C>T,cCg/cTg,MODERATE,,0.907947,0.9881,rs4972450,0.69(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.59(N),-0.9658(T),,chr2,175436940,175436940,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro198Leu/c.593C>T|503|WIPF1|protein_coding|CODING|NM_001077269.1|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro198Leu/c.593C>T|503|WIPF1|protein_coding|CODING|NM_003387.4|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8712,0.9683,0.9503,0.92,0.85,0.96,,0.058264(N),0.000(P),"1.68,1.68,1.68,1.68,1.12,1.1(T,T,T,T,T,T)",0.0000(T),0.056,-1.180079,5.02,5.02,-0.443000,0.765000,2.506000,0.287000,1.000000,0.991000,10.4908
synonymous_variant,EVX2,SILENT,NM_001080458.1:p.Gly418Gly/c.1254C>T,ggC/ggT,LOW,,0.392572,0.4911,rs1868101,,,,,,chr2,176945012,176945012,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly418Gly/c.1254C>T|476|EVX2|protein_coding|CODING|NM_001080458.1|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,K562:SETDB1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,K562:E2F4",,,,0.546,0.2536,0.1431,,,,,,,,,,,,,,,,,,,
missense_variant,HOXD4,MISSENSE,NM_014621.2:p.Ser123Pro/c.367T>C,Tcc/Ccc,MODERATE,COSM3757784(1),0.236422,0.0228,rs34727427,0.56(T),0.0(B),0.145(N),-1.0668(T),,chr2,177016728,177016728,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser123Pro/c.367T>C|255|HOXD4|protein_coding|CODING|NM_014621.2|1|1),downstream_gene_variant(MODIFIER||1588|||MIR10B||NON_CODING|NR_029609.1||1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NH-A:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1861,0.1916,0.3082,0.32,0.34,0.30,,0.195361(N),0.000(P),-2.85(D),0.0000(T),0.016,0.492176,3.98,2.91,-0.119000,0.784000,0.663000,0.953000,1.000000,0.994000,8.922
synonymous_variant,HOXD3,SILENT,NM_006898.4:p.Pro93Pro/c.279G>T,ccG/ccT,LOW,,0.18131,0.0218,rs34729309,,,,,,chr2,177034121,177034121,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro93Pro/c.279G>T|432|HOXD3|protein_coding|CODING|NM_006898.4|2|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.184,0.183,0.3072,0.28,0.22,0.31,,,,,,,,,,,,,,,,
synonymous_variant,HOXD3,SILENT,NM_006898.4:p.Leu351Leu/c.1051T>C,Ttg/Ctg,LOW,COSM329400(8),0.820088,0.7738,rs1051929,,,,,,chr2,177036754,177036754,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu351Leu/c.1051T>C|432|HOXD3|protein_coding|CODING|NM_006898.4|3|1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_033979.2||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110458.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110459.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110460.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110461.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110462.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110463.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110464.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110465.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110466.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110467.1||1),downstream_gene_variant(MODIFIER||1163|||HAGLR||NON_CODING|NR_110468.1||1)","H1ESC:H3K36me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,NH-A:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.863,0.7968,0.675,0.75,0.88,0.68,,,,,,,,,,,,,,,,
missense_variant,TTC30B,MISSENSE,NM_152517.2:p.Arg117His/c.350G>A,cGc/cAc,MODERATE,COSM4133256(1),0.890575,0.9742,rs11694988,0.12(T),0.416(B),0.755(N),-0.9954(T),,chr2,178417142,178417142,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg117His/c.350G>A|665|TTC30B|protein_coding|CODING|NM_152517.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:H3K27ac,K562:ELF1,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,CD4:H2BK12ac,GM12878:H2AZ",,,,0.8926,0.9121,0.8688,0.85,0.85,0.85,,0.000131(D),0.001(P),-1.21(T),0.0000(T),0.252,3.054112,4.3,4.3,0.655000,2.376000,3.109000,0.739000,0.996000,1.000000,15.4721
synonymous_variant,TTC30B,SILENT,NM_152517.2:p.Leu89Leu/c.267G>A,ctG/ctA,LOW,,0.890575,0.9742,rs11695035,,,,,,chr2,178417225,178417225,C,T,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu89Leu/c.267G>A|665|TTC30B|protein_coding|CODING|NM_152517.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,K562:SETDB1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,CD4:H2BK12ac,H1ESC:CTCF,GM12878:H2AZ",,,,0.8926,0.9107,0.8688,0.85,0.85,0.85,,,,,,,,,,,,,,,,
synonymous_variant,TTC30A,SILENT,NM_152275.3:p.Arg538Arg/c.1612C>A,Cgg/Agg,LOW,,0.900559,0.9752,rs10497497,,,,,,chr2,178481818,178481818,G,T,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg538Arg/c.1612C>A|665|TTC30A|protein_coding|CODING|NM_152275.3|1|1),,,,,0.9243,0.9193,0.8757,0.86,0.85,0.87,,,,,,,,,,,,,,,,
missense_variant,TTC30A,MISSENSE,NM_152275.3:p.Val446Ile/c.1336G>A,Gtc/Atc,MODERATE,,,,rs28630685,1(T),0.0(B),-2.605(N),-0.9412(T),,chr2,178482094,178482094,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val446Ile/c.1336G>A|665|TTC30A|protein_coding|CODING|NM_152275.3|1|1),CD4:H2BK20ac,,,,,,,,,,,0.000001(N),1.000(P),0.03(T),0.0000(T),0.087,-0.129223,5.91,5.91,-0.275000,1.078000,4.034000,0.309000,1.000000,1.000000,12.2131
missense_variant,PDE11A,MISSENSE,NM_016953.3:p.Arg804His/c.2411G>A,cGt/cAt,MODERATE,,0.0131789,0.001,rs75127279,0(D),"0.736,0.918(P,D)",2.205(M),-0.5821(T),,chr2,178545566,178545566,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg360His/c.1079G>A|489|PDE11A|protein_coding|CODING|NM_001077196.1|13|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg554His/c.1661G>A|683|PDE11A|protein_coding|CODING|NM_001077197.1|17|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg446His/c.1337G>A|575|PDE11A|protein_coding|CODING|NM_001077358.1|15|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg804His/c.2411G>A|933|PDE11A|protein_coding|CODING|NM_016953.3|16|1)","NHEK:H3K27me3,HSMM:H3K27me3",,,,0.0337,0.0101,0.0249,0.02,0.00,0.02,,0.000000(D),1.000(D),"-1.65,-1.65,-1.65,-1.65,-1.65(D,D,D,D,D)",0.1977(T),0.506,4.425447,5.77,5.77,0.655000,2.884000,4.613000,0.947000,1.000000,1.000000,20.3473
missense_variant,PDE11A,MISSENSE,NM_016953.3:p.Tyr727Cys/c.2180A>G,tAt/tGt,MODERATE,,0.0221645,0,rs17400325,,,3.635(H),0.1158(D),,chr2,178565913,178565913,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr283Cys/c.848A>G|489|PDE11A|protein_coding|CODING|NM_001077196.1|11|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr477Cys/c.1430A>G|683|PDE11A|protein_coding|CODING|NM_001077197.1|15|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr369Cys/c.1106A>G|575|PDE11A|protein_coding|CODING|NM_001077358.1|13|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr727Cys/c.2180A>G|933|PDE11A|protein_coding|CODING|NM_016953.3|14|1)",HUVEC:H3K27me3,,,,0.0133,0.0375,0.0676,0.03,0.01,0.04,,,1.000(D),,0.4271(T),.,4.173676,5.7,5.7,0.454000,2.165000,7.646000,0.824000,0.979000,1.000000,15.9755
synonymous_variant,PDE11A,SILENT,NM_016953.3:p.Ala542Ala/c.1626A>G,gcA/gcG,LOW,COSM3757786(2),0.418131,0.3056,rs6720891,,,,-0.9497(T),,chr2,178682603,178682603,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala98Ala/c.294A>G|489|PDE11A|protein_coding|CODING|NM_001077196.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala292Ala/c.876A>G|683|PDE11A|protein_coding|CODING|NM_001077197.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala184Ala/c.552A>G|575|PDE11A|protein_coding|CODING|NM_001077358.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala542Ala/c.1626A>G|933|PDE11A|protein_coding|CODING|NM_016953.3|8|1)",HUVEC:H3K27me3,,,,0.318,0.2622,0.3241,0.42,0.62,0.32,,,0.000(P),,0.0000(T),.,0.255377,5.82,-11.6,-4.221000,-1.740000,-0.365000,0.633000,0.742000,0.521000,0.7539
synonymous_variant,PDE11A,SILENT,NM_016953.3:p.Thr264Thr/c.792A>C,acA/acC,LOW,,0.88738,0.999,rs1435573,,,,,,chr2,178936373,178936373,T,G,hom,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr264Thr/c.792A>C|933|PDE11A|protein_coding|CODING|NM_016953.3|1|1),intron_variant(MODIFIER|||c.162+32656A>C|683|PDE11A|protein_coding|CODING|NM_001077197.1|2|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.908,0.9078,0.8728,0.83,0.81,0.85,,,,,,,,,,,,,,,,
missense_variant,PDE11A,MISSENSE,NM_016953.3:p.Arg184Gln/c.551G>A,cGg/cAg,MODERATE,COSM4133260(1),0.990216,0.999,rs6433711,1(T),0.0(B),-1.75(N),-0.9391(T),,chr2,178936614,178936614,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg184Gln/c.551G>A|933|PDE11A|protein_coding|CODING|NM_016953.3|1|1),intron_variant(MODIFIER|||c.162+32415G>A|683|PDE11A|protein_coding|CODING|NM_001077197.1|2|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,0.999,0.99,0.98,1.00,,0.000781(N),0.000(P),-0.23(T),0.0000(T),0.106,0.949318,5.28,5.28,-0.254000,0.855000,3.766000,0.979000,1.000000,1.000000,10.4461
synonymous_variant,OSBPL6,SILENT,NM_001201480.1:p.Ser290Ser/c.870G>A,tcG/tcA,LOW,,0.920927,0.9663,rs1434087,,,,,,chr2,179203797,179203797,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser290Ser/c.870G>A|959|OSBPL6|protein_coding|CODING|NM_001201480.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser290Ser/c.870G>A|903|OSBPL6|protein_coding|CODING|NM_001201481.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser290Ser/c.870G>A|898|OSBPL6|protein_coding|CODING|NM_001201482.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser290Ser/c.870G>A|934|OSBPL6|protein_coding|CODING|NM_032523.3|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser269Ser/c.807G>A|938|OSBPL6|protein_coding|CODING|NM_145739.2|8|1)",HMEC:H3K36me3,,,,0.9468,0.9395,0.9026,0.91,0.89,0.91,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ile35540Thr/c.106619T>C,aTt/aCt,MODERATE,,0.00459265,0,rs55880440,0(D),"0.0,0.0,0.0,0.0(B,B,B,B)",0.55(N),-0.9814(T),,chr2,179393859,179393859,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile33899Thr/c.101696T>C|34350|TTN|protein_coding|CODING|NM_001256850.1|310|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile35540Thr/c.106619T>C|35991|TTN|protein_coding|CODING|NM_001267550.2|360|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile26475Thr/c.79424T>C|26926|TTN|protein_coding|CODING|NM_003319.4|188|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile32972Thr/c.98915T>C|33423|TTN|protein_coding|CODING|NM_133378.4|309|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile26600Thr/c.79799T>C|27051|TTN|protein_coding|CODING|NM_133432.3|189|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile26667Thr/c.80000T>C|27118|TTN|protein_coding|CODING|NM_133437.4|189|1),intron_variant(MODIFIER|||n.37-99656A>G||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.219+5496A>G||TTN-AS1||NON_CODING|NR_038272.1|2|1),intron_variant(MODIFIER|||n.446+5496A>G||TTN-AS1||NON_CODING|NR_038271.1|1|1)","GM12878:H3K4me3,GM12878:H3K27ac,HSMM:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me2",,RCV000040979.3|RCV000126003.1,,0.002,0.0144,0.0109,0.01,0.00,0.02,,,1.000(N),"-0.22,0.13,0.1,0.08(T,T,T,T)",0.0808(T),0.516,1.983058,5.24,1.63,-0.250000,0.412000,1.884000,0.984000,0.997000,0.998000,6.3461
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Ala35128Ala/c.105384A>G,gcA/gcG,LOW,,0.508187,0.7123,rs3813250,,,,,,chr2,179395958,179395958,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala33487Ala/c.100461A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|308|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala35128Ala/c.105384A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|358|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala26063Ala/c.78189A>G|26926|TTN|protein_coding|CODING|NM_003319.4|186|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala32560Ala/c.97680A>G|33423|TTN|protein_coding|CODING|NM_133378.4|307|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala26188Ala/c.78564A>G|27051|TTN|protein_coding|CODING|NM_133432.3|187|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala26255Ala/c.78765A>G|27118|TTN|protein_coding|CODING|NM_133437.4|187|1),intron_variant(MODIFIER|||n.37-97557T>C||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.220-4501T>C||TTN-AS1||NON_CODING|NR_038272.1|2|1),intron_variant(MODIFIER|||n.446+7595T>C||TTN-AS1||NON_CODING|NR_038271.1|1|1)","GM12878:Pax5,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,RCV000040958.3|RCV000125990.1,,0.5521,0.4049,0.2535,0.32,0.53,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Val34996Val/c.104988C>T,gtC/gtT,LOW,COSM4001334(2),0.231829,0.4504,rs3829748,,,,,,chr2,179396354,179396354,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val33355Val/c.100065C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|308|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val34996Val/c.104988C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|358|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val25931Val/c.77793C>T|26926|TTN|protein_coding|CODING|NM_003319.4|186|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val32428Val/c.97284C>T|33423|TTN|protein_coding|CODING|NM_133378.4|307|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val26056Val/c.78168C>T|27051|TTN|protein_coding|CODING|NM_133432.3|187|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val26123Val/c.78369C>T|27118|TTN|protein_coding|CODING|NM_133437.4|187|1),intron_variant(MODIFIER|||n.37-97161G>A||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.220-4105G>A||TTN-AS1||NON_CODING|NR_038272.1|2|1),intron_variant(MODIFIER|||n.446+7991G>A||TTN-AS1||NON_CODING|NR_038271.1|1|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,RCV000040950.3|RCV000125987.1,,0.2679,0.1571,0.1392,0.14,0.14,0.15,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Arg34594His/c.103781G>A,cGc/cAc,MODERATE,COSM4001338(1),0.208666,0.4484,rs3829747,0(D),"0.996,0.996,0.996,0.996(D,D,D,D)",0.55(N),-0.9625(T),,chr2,179397561,179397561,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg32953His/c.98858G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|308|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg34594His/c.103781G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|358|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg25529His/c.76586G>A|26926|TTN|protein_coding|CODING|NM_003319.4|186|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg32026His/c.96077G>A|33423|TTN|protein_coding|CODING|NM_133378.4|307|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg25654His/c.76961G>A|27051|TTN|protein_coding|CODING|NM_133432.3|187|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg25721His/c.77162G>A|27118|TTN|protein_coding|CODING|NM_133437.4|187|1),intron_variant(MODIFIER|||n.37-95954C>T||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.220-2898C>T||TTN-AS1||NON_CODING|NR_038272.1|2|1),intron_variant(MODIFIER|||n.446+9198C>T||TTN-AS1||NON_CODING|NR_038271.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000040932.3|RCV000125981.1,,0.2679,0.1484,0.1392,0.12,0.07,0.14,,,0.000(P),"-0.21,0.02,0.0,-0.01(T,T,T,T)",0.0000(T),0.297,4.097774,5.81,5.81,0.462000,2.757000,7.794000,0.979000,1.000000,1.000000,19.6737
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Gly34173Gly/c.102519C>T,ggC/ggT,LOW,COSM4001340(2),0.232029,0.4514,rs2857265,,,,,,chr2,179398823,179398823,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly32532Gly/c.97596C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|308|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly34173Gly/c.102519C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|358|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly25108Gly/c.75324C>T|26926|TTN|protein_coding|CODING|NM_003319.4|186|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly31605Gly/c.94815C>T|33423|TTN|protein_coding|CODING|NM_133378.4|307|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly25233Gly/c.75699C>T|27051|TTN|protein_coding|CODING|NM_133432.3|187|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly25300Gly/c.75900C>T|27118|TTN|protein_coding|CODING|NM_133437.4|187|1),intron_variant(MODIFIER|||n.37-94692G>A||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.220-1636G>A||TTN-AS1||NON_CODING|NR_038272.1|2|1),intron_variant(MODIFIER|||n.446+10460G>A||TTN-AS1||NON_CODING|NR_038271.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000040919.3|RCV000125978.1,,0.2679,0.1571,0.1392,0.14,0.14,0.15,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Val33749Met/c.101245G>A,Gtg/Atg,MODERATE,,0.00139776,0,rs201554140,0(D),"0.963,0.963,0.963,0.98(D,D,D,D)",3.165(M),0.0259(D),,chr2,179400097,179400097,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val32108Met/c.96322G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|308|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val33749Met/c.101245G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|358|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val24684Met/c.74050G>A|26926|TTN|protein_coding|CODING|NM_003319.4|186|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val31181Met/c.93541G>A|33423|TTN|protein_coding|CODING|NM_133378.4|307|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val24809Met/c.74425G>A|27051|TTN|protein_coding|CODING|NM_133432.3|187|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val24876Met/c.74626G>A|27118|TTN|protein_coding|CODING|NM_133437.4|187|1),intron_variant(MODIFIER|||n.37-93418C>T||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.220-362C>T||TTN-AS1||NON_CODING|NR_038272.1|2|1),intron_variant(MODIFIER|||n.446+11734C>T||TTN-AS1||NON_CODING|NR_038271.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000040903.1,,0,0,0,0.00,0.01,0.00,,,1.000(D),"0.07,0.07,0.07,0.07(T,T,T,T)",0.4092(T),0.35,2.818672,5.52,5.52,0.557000,2.754000,3.666000,0.879000,0.965000,0.998000,19.8108
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Arg32538His/c.97613G>A,cGc/cAc,MODERATE,COSM4001355(2),0.209265,0.4514,rs3731749,0(D),"0.999,0.999,0.999,0.999(D,D,D,D)",2.165(M),-1.0354(T),,chr2,179406191,179406191,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg30897His/c.92690G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|300|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg32538His/c.97613G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|350|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg23473His/c.70418G>A|26926|TTN|protein_coding|CODING|NM_003319.4|178|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg29970His/c.89909G>A|33423|TTN|protein_coding|CODING|NM_133378.4|299|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg23598His/c.70793G>A|27051|TTN|protein_coding|CODING|NM_133432.3|179|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg23665His/c.70994G>A|27118|TTN|protein_coding|CODING|NM_133437.4|179|1),intron_variant(MODIFIER|||n.37-87324C>T||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.446+17828C>T||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.1904-758C>T||TTN-AS1||NON_CODING|NR_038272.1|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000040855.2|RCV000125957.1,,0.2689,0.1484,0.1382,0.12,0.07,0.15,,,0.000(P),"0.42,0.42,0.42,0.42(T,T,T,T)",0.0000(T),0.427,5.412118,5.72,5.72,0.561000,2.692000,7.814000,0.994000,1.000000,1.000000,19.8706
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Ala31081Ala/c.93243C>T,gcC/gcT,LOW,COSM4001364(2),0.234225,0.4514,rs3731748,,,,,,chr2,179413110,179413110,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala29440Ala/c.88320C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|289|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala31081Ala/c.93243C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|339|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala22016Ala/c.66048C>T|26926|TTN|protein_coding|CODING|NM_003319.4|167|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala28513Ala/c.85539C>T|33423|TTN|protein_coding|CODING|NM_133378.4|288|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala22141Ala/c.66423C>T|27051|TTN|protein_coding|CODING|NM_133432.3|168|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala22208Ala/c.66624C>T|27118|TTN|protein_coding|CODING|NM_133437.4|168|1),intron_variant(MODIFIER|||n.37-80405G>A||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-22917G>A||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2043+6022G>A||TTN-AS1||NON_CODING|NR_038272.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000040799.3|RCV000125941.1,,0.2802,0.1571,0.1382,0.14,0.14,0.15,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ile29396Thr/c.88187T>C,aTc/aCc,MODERATE,,0.507188,0.7153,rs9808377,0(D),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.455(N),-0.8807(T),,chr2,179421694,179421694,A,G,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile27755Thr/c.83264T>C|34350|TTN|protein_coding|CODING|NM_001256850.1|280|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile29396Thr/c.88187T>C|35991|TTN|protein_coding|CODING|NM_001267550.2|330|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile20331Thr/c.60992T>C|26926|TTN|protein_coding|CODING|NM_003319.4|158|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile26828Thr/c.80483T>C|33423|TTN|protein_coding|CODING|NM_133378.4|279|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile20456Thr/c.61367T>C|27051|TTN|protein_coding|CODING|NM_133432.3|159|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile20523Thr/c.61568T>C|27118|TTN|protein_coding|CODING|NM_133437.4|159|1),intron_variant(MODIFIER|||n.37-71821A>G||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-14333A>G||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2043+14606A>G||TTN-AS1||NON_CODING|NR_038272.1|7|1)","GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000040744.2|RCV000125926.1,,0.5501,0.4049,0.2495,0.32,0.52,0.22,,,0.000(P),"0.73,0.73,0.73,0.73(T,T,T,T)",0.0000(T),0.066,-0.159019,5.87,-2.9,-0.726000,-1.202000,0.686000,0.170000,0.094000,0.202000,12.5594
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Val29270Ile/c.87808G>A,Gta/Ata,MODERATE,,0.00259585,0,rs141624266,0(D),"0.0,0.0,0.001,0.001(B,B,B,B)",-1.22(N),-1.0326(T),,chr2,179422181,179422181,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val27629Ile/c.82885G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|279|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val29270Ile/c.87808G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|329|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val20205Ile/c.60613G>A|26926|TTN|protein_coding|CODING|NM_003319.4|157|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val26702Ile/c.80104G>A|33423|TTN|protein_coding|CODING|NM_133378.4|278|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val20330Ile/c.60988G>A|27051|TTN|protein_coding|CODING|NM_133432.3|158|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val20397Ile/c.61189G>A|27118|TTN|protein_coding|CODING|NM_133437.4|158|1),intron_variant(MODIFIER|||n.37-71334C>T||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-13846C>T||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2043+15093C>T||TTN-AS1||NON_CODING|NR_038272.1|7|1)","GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000040738.1|RCV000118785.1,,0.0072,0,0.006,0.00,0.00,0.00,,,1.000(N),"0.38,0.38,0.38,0.38(T,T,T,T)",0.0346(T),0.042,1.514929,5.56,0.411,-0.294000,0.110000,0.542000,0.990000,0.819000,0.947000,5.3953
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Gly27891Gly/c.83673T>C,ggT/ggC,LOW,,0.508786,0.7153,rs2366751,,,,,,chr2,179427186,179427186,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly26250Gly/c.78750T>C|34350|TTN|protein_coding|CODING|NM_001256850.1|276|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly27891Gly/c.83673T>C|35991|TTN|protein_coding|CODING|NM_001267550.2|326|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly18826Gly/c.56478T>C|26926|TTN|protein_coding|CODING|NM_003319.4|154|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly25323Gly/c.75969T>C|33423|TTN|protein_coding|CODING|NM_133378.4|275|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly18951Gly/c.56853T>C|27051|TTN|protein_coding|CODING|NM_133432.3|155|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly19018Gly/c.57054T>C|27118|TTN|protein_coding|CODING|NM_133437.4|155|1),intron_variant(MODIFIER|||n.37-66329A>G||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-8841A>G||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2043+20098A>G||TTN-AS1||NON_CODING|NR_038272.1|7|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,RCV000040698.3|RCV000125917.1,,0.5511,0.4078,0.2535,0.32,0.52,0.22,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ile27775Val/c.83323A>G,Ata/Gta,MODERATE,,0.508387,0.7153,rs3829746,0(D),"0.001,0.001,0.001,0.001(B,B,B,B)",-0.615(N),-0.9711(T),,chr2,179427536,179427536,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile26134Val/c.78400A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|276|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile27775Val/c.83323A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|326|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile18710Val/c.56128A>G|26926|TTN|protein_coding|CODING|NM_003319.4|154|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile25207Val/c.75619A>G|33423|TTN|protein_coding|CODING|NM_133378.4|275|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile18835Val/c.56503A>G|27051|TTN|protein_coding|CODING|NM_133432.3|155|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile18902Val/c.56704A>G|27118|TTN|protein_coding|CODING|NM_133437.4|155|1),intron_variant(MODIFIER|||n.37-65979T>C||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-8491T>C||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2044-19763T>C||TTN-AS1||NON_CODING|NR_038272.1|7|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000040694.3|RCV000125916.1,,0.5511,0.4078,0.2535,0.32,0.53,0.22,,,0.000(P),"0.62,0.62,0.62,0.62(T,T,T,T)",0.0000(T),0.033,1.086053,6.04,5.15,-0.215000,0.883000,0.683000,0.900000,0.994000,0.155000,9.6301
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Thr27035Thr/c.81105C>A,acC/acA,LOW,,0.000399361,0,rs72648212,,,,,,chr2,179429754,179429754,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr25394Thr/c.76182C>A|34350|TTN|protein_coding|CODING|NM_001256850.1|276|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr27035Thr/c.81105C>A|35991|TTN|protein_coding|CODING|NM_001267550.2|326|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr17970Thr/c.53910C>A|26926|TTN|protein_coding|CODING|NM_003319.4|154|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr24467Thr/c.73401C>A|33423|TTN|protein_coding|CODING|NM_133378.4|275|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr18095Thr/c.54285C>A|27051|TTN|protein_coding|CODING|NM_133432.3|155|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr18162Thr/c.54486C>A|27118|TTN|protein_coding|CODING|NM_133437.4|155|1),intron_variant(MODIFIER|||n.37-63761G>T||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-6273G>T||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2044-17545G>T||TTN-AS1||NON_CODING|NR_038272.1|7|1)","H1ESC:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000040665.1,,0,0.0014,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Thr26621Met/c.79862C>T,aCg/aTg,MODERATE,,0.342252,0.629,rs3731746,0(D),"0.636,0.636,0.636,0.636(P,P,P,P)",2.485(M),-0.8840(T),,chr2,179430997,179430997,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr24980Met/c.74939C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|276|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr26621Met/c.79862C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|326|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr17556Met/c.52667C>T|26926|TTN|protein_coding|CODING|NM_003319.4|154|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr24053Met/c.72158C>T|33423|TTN|protein_coding|CODING|NM_133378.4|275|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr17681Met/c.53042C>T|27051|TTN|protein_coding|CODING|NM_133432.3|155|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr17748Met/c.53243C>T|27118|TTN|protein_coding|CODING|NM_133437.4|155|1),intron_variant(MODIFIER|||n.37-62518G>A||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-5030G>A||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2044-16302G>A||TTN-AS1||NON_CODING|NR_038272.1|7|1)","H1ESC:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,RCV000040652.3|RCV000125901.1,,0.317,0.2061,0.171,0.22,0.33,0.17,,,0.000(P),"-0.34,-0.34,-0.34,-0.34(T,T,T,T)",0.0000(T),0.286,1.016420,5.91,5.03,0.555000,1.485000,2.938000,0.991000,0.980000,1.000000,11.7884
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Arg24947Cys/c.74839C>T,Cgc/Tgc,MODERATE,COSM4001370(2),0.208067,0.4504,rs744426,0(D),"0.877,0.877,0.877,0.877(P,P,P,P)",1.95(M),-0.9823(T),,chr2,179436020,179436020,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg23306Cys/c.69916C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|276|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg24947Cys/c.74839C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|326|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg15882Cys/c.47644C>T|26926|TTN|protein_coding|CODING|NM_003319.4|154|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg22379Cys/c.67135C>T|33423|TTN|protein_coding|CODING|NM_133378.4|275|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg16007Cys/c.48019C>T|27051|TTN|protein_coding|CODING|NM_133432.3|155|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg16074Cys/c.48220C>T|27118|TTN|protein_coding|CODING|NM_133437.4|155|1),splice_region_variant(LOW|||n.447G>A||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.37-57495G>A||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.447-7G>A||TTN-AS1||NON_CODING|NR_038271.1|1|1),intron_variant(MODIFIER|||n.2044-11279G>A||TTN-AS1||NON_CODING|NR_038272.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000040599.3|RCV000125884.1,,0.2669,0.1455,0.1372,0.12,0.07,0.14,,,0.000(P),"0.52,0.52,0.52,0.52(T,T,T,T)",0.0000(T),0.449,1.402466,5.39,4.5,0.650000,1.394000,3.109000,0.998000,1.000000,1.000000,13.6593
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ala22416Pro/c.67246G>C,Gct/Cct,MODERATE,,0.994609,1,rs4145333,0(D),"0.0,0.0,0.0(B,B,B)",-0.71(N),-1.0029(T),,chr2,179444768,179444768,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala20775Pro/c.62323G>C|34350|TTN|protein_coding|CODING|NM_001256850.1|268|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala22416Pro/c.67246G>C|35991|TTN|protein_coding|CODING|NM_001267550.2|318|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala13351Pro/c.40051G>C|26926|TTN|protein_coding|CODING|NM_003319.4|146|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala19848Pro/c.59542G>C|33423|TTN|protein_coding|CODING|NM_133378.4|267|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala13476Pro/c.40426G>C|27051|TTN|protein_coding|CODING|NM_133432.3|147|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala13543Pro/c.40627G>C|27118|TTN|protein_coding|CODING|NM_133437.4|147|1),intron_variant(MODIFIER|||n.37-48747C>G||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.2044-2531C>G||TTN-AS1||NON_CODING|NR_038272.1|7|1),intron_variant(MODIFIER|||n.596+8592C>G||TTN-AS1||NON_CODING|NR_038271.1|2|1)","CD4:H3K36me3,GM06990:H3K36me3",,RCV000040520.2|RCV000125863.1,,1,0.9971,1,1.00,0.99,1.00,,,0.915(P),"0.46,0.46,0.46,0.46(T,T,T,T)",0.0000(T),0.076,0.001563,5.53,1.82,-1.565000,0.059000,0.656000,0.565000,0.004000,0.285000,0.5419
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Val22359Ile/c.67075G>A,Gtc/Atc,MODERATE,,0.351238,0.631,rs2303838,0(D),"0.011,0.011,0.011,0.011(B,B,B,B)",1.715(L),-0.9616(T),,chr2,179444939,179444939,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val20718Ile/c.62152G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|268|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val22359Ile/c.67075G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|318|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val13294Ile/c.39880G>A|26926|TTN|protein_coding|CODING|NM_003319.4|146|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val19791Ile/c.59371G>A|33423|TTN|protein_coding|CODING|NM_133378.4|267|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val13419Ile/c.40255G>A|27051|TTN|protein_coding|CODING|NM_133432.3|147|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val13486Ile/c.40456G>A|27118|TTN|protein_coding|CODING|NM_133437.4|147|1),intron_variant(MODIFIER|||n.37-48576C>T||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.2044-2360C>T||TTN-AS1||NON_CODING|NR_038272.1|7|1),intron_variant(MODIFIER|||n.596+8763C>T||TTN-AS1||NON_CODING|NR_038271.1|2|1)","CD4:H3K36me3,GM06990:H3K36me3",,RCV000040517.2|RCV000125862.1,,0.3415,0.2147,0.1849,0.22,0.33,0.18,,,0.000(P),"0.42,0.42,0.42,0.42(T,T,T,T)",0.0000(T),0.137,1.050609,5.41,2.61,-0.253000,0.261000,-0.020000,0.972000,0.932000,0.001000,6.7606
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Thr21894Thr/c.65682A>G,acA/acG,LOW,,0.513778,0.7202,rs4894029,,,,,,chr2,179447848,179447848,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr20253Thr/c.60759A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|263|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr21894Thr/c.65682A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|313|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr12829Thr/c.38487A>G|26926|TTN|protein_coding|CODING|NM_003319.4|141|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr19326Thr/c.57978A>G|33423|TTN|protein_coding|CODING|NM_133378.4|262|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr12954Thr/c.38862A>G|27051|TTN|protein_coding|CODING|NM_133432.3|142|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr13021Thr/c.39063A>G|27118|TTN|protein_coding|CODING|NM_133437.4|142|1),intron_variant(MODIFIER|||n.37-45667T>C||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.596+11672T>C||TTN-AS1||NON_CODING|NR_038271.1|2|1),non_coding_exon_variant(MODIFIER|||n.2309T>C||TTN-AS1||NON_CODING|NR_038272.1|9|1)","HSMM:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3",,RCV000040497.3|RCV000125856.1,,0.5593,0.4078,0.2555,0.32,0.53,0.22,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Thr21403Ile/c.64208C>T,aCt/aTt,MODERATE,,0.507588,0.7212,rs2042996,0(D),"0.0,0.0,0.0,0.0(B,B,B,B)",-3.385(N),-0.9070(T),,chr2,179451420,179451420,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr19762Ile/c.59285C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|258|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr21403Ile/c.64208C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|308|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr12338Ile/c.37013C>T|26926|TTN|protein_coding|CODING|NM_003319.4|136|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr18835Ile/c.56504C>T|33423|TTN|protein_coding|CODING|NM_133378.4|257|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr12463Ile/c.37388C>T|27051|TTN|protein_coding|CODING|NM_133432.3|137|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr12530Ile/c.37589C>T|27118|TTN|protein_coding|CODING|NM_133437.4|137|1),intron_variant(MODIFIER|||n.37-42095G>A||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.597-10903G>A||TTN-AS1||NON_CODING|NR_038271.1|2|1),intron_variant(MODIFIER|||n.3188+1700G>A||TTN-AS1||NON_CODING|NR_038272.1|11|1)",HSMM:H3K36me3,,RCV000040479.2|RCV000125849.1,,0.5562,0.4078,0.2485,0.31,0.51,0.22,,,0.000(P),"0.97,0.97,0.97,0.97(T,T,T,T)",0.0000(T),0.128,2.813873,6.07,6.07,-0.254000,1.120000,7.476000,0.836000,0.901000,1.000000,12.3663
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Tyr20686Tyr/c.62058T>C,taT/taC,LOW,,0.51238,0.7232,rs1560221,,,,,,chr2,179454394,179454394,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr19045Tyr/c.57135T>C|34350|TTN|protein_coding|CODING|NM_001256850.1|254|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr20686Tyr/c.62058T>C|35991|TTN|protein_coding|CODING|NM_001267550.2|304|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr11621Tyr/c.34863T>C|26926|TTN|protein_coding|CODING|NM_003319.4|132|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr18118Tyr/c.54354T>C|33423|TTN|protein_coding|CODING|NM_133378.4|253|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr11746Tyr/c.35238T>C|27051|TTN|protein_coding|CODING|NM_133432.3|133|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr11813Tyr/c.35439T>C|27118|TTN|protein_coding|CODING|NM_133437.4|133|1),intron_variant(MODIFIER|||n.37-39121A>G||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.597-7929A>G||TTN-AS1||NON_CODING|NR_038271.1|2|1),intron_variant(MODIFIER|||n.3189-1472A>G||TTN-AS1||NON_CODING|NR_038272.1|11|1)","CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3",,RCV000040449.2|RCV000125841.1,,0.5583,0.4092,0.2545,0.32,0.53,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Thr20415Thr/c.61245A>G,acA/acG,LOW,,0.51238,0.7232,rs2163009,,,,,,chr2,179455207,179455207,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr18774Thr/c.56322A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|254|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr20415Thr/c.61245A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|304|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr11350Thr/c.34050A>G|26926|TTN|protein_coding|CODING|NM_003319.4|132|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr17847Thr/c.53541A>G|33423|TTN|protein_coding|CODING|NM_133378.4|253|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr11475Thr/c.34425A>G|27051|TTN|protein_coding|CODING|NM_133432.3|133|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr11542Thr/c.34626A>G|27118|TTN|protein_coding|CODING|NM_133437.4|133|1),intron_variant(MODIFIER|||n.37-38308T>C||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.597-7116T>C||TTN-AS1||NON_CODING|NR_038271.1|2|1),intron_variant(MODIFIER|||n.3189-659T>C||TTN-AS1||NON_CODING|NR_038272.1|11|1)","K562:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000040440.2|RCV000125840.1,,0.5583,0.4078,0.2545,0.32,0.52,0.22,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Pro19862Leu/c.59585C>T,cCa/cTa,MODERATE,COSM3933445(4),0.213059,0.4573,rs16866406,0(D),"0.031,0.031,0.031,0.031(B,B,B,B)",1.73(L),-1.0031(T),,chr2,179457147,179457147,G,A,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro18221Leu/c.54662C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|251|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro19862Leu/c.59585C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|301|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro10797Leu/c.32390C>T|26926|TTN|protein_coding|CODING|NM_003319.4|129|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro17294Leu/c.51881C>T|33423|TTN|protein_coding|CODING|NM_133378.4|250|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro10922Leu/c.32765C>T|27051|TTN|protein_coding|CODING|NM_133432.3|130|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro10989Leu/c.32966C>T|27118|TTN|protein_coding|CODING|NM_133437.4|130|1),intron_variant(MODIFIER|||n.37-36368G>A||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.597-5176G>A||TTN-AS1||NON_CODING|NR_038271.1|2|1),intron_variant(MODIFIER|||n.3364+1106G>A||TTN-AS1||NON_CODING|NR_038272.1|12|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000040422.2|RCV000125839.1,,0.2781,0.1527,0.1392,0.13,0.08,0.15,,,0.000(P),"-0.23,-0.23,-0.23,-0.23(T,T,T,T)",0.0000(T),0.376,1.636872,6.03,5.16,0.557000,1.568000,4.667000,0.998000,1.000000,1.000000,12.5317
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Arg19479His/c.58436G>A,cGt/cAt,MODERATE,COSM3933448(3),0.21246,0.4544,rs2288569,0(D),"0.996,0.996,0.996,0.996(D,D,D,D)",2.78(M),-1.0274(T),,chr2,179458591,179458591,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg17838His/c.53513G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|248|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg19479His/c.58436G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|298|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg10414His/c.31241G>A|26926|TTN|protein_coding|CODING|NM_003319.4|126|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg16911His/c.50732G>A|33423|TTN|protein_coding|CODING|NM_133378.4|247|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg10539His/c.31616G>A|27051|TTN|protein_coding|CODING|NM_133432.3|127|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg10606His/c.31817G>A|27118|TTN|protein_coding|CODING|NM_133437.4|127|1),intron_variant(MODIFIER|||n.37-34924C>T||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.597-3732C>T||TTN-AS1||NON_CODING|NR_038271.1|2|1),intron_variant(MODIFIER|||n.3364+2550C>T||TTN-AS1||NON_CODING|NR_038272.1|12|1)","HSMM:H3K36me3,CD4:H3K36me3",,RCV000040406.3|RCV000125833.1,,0.2781,0.1513,0.1402,0.13,0.08,0.15,,,0.000(P),"0.93,0.93,0.93,0.93(T,T,T,T)",0.0000(T),0.263,3.621219,6.16,6.16,0.650000,2.937000,7.807000,0.996000,1.000000,1.000000,20.8598
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Asn18701Asp/c.56101A>G,Aat/Gat,MODERATE,,0.51278,0.7252,rs1001238,0(D),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.505(N),-0.9845(T),,chr2,179464527,179464527,T,C,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn17060Asp/c.51178A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|239|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn18701Asp/c.56101A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|289|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn9636Asp/c.28906A>G|26926|TTN|protein_coding|CODING|NM_003319.4|117|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn16133Asp/c.48397A>G|33423|TTN|protein_coding|CODING|NM_133378.4|238|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn9761Asp/c.29281A>G|27051|TTN|protein_coding|CODING|NM_133432.3|118|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn9828Asp/c.29482A>G|27118|TTN|protein_coding|CODING|NM_133437.4|118|1),intron_variant(MODIFIER|||n.37-28988T>C||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.682+2119T>C||TTN-AS1||NON_CODING|NR_038271.1|3|1),intron_variant(MODIFIER|||n.3725+50T>C||TTN-AS1||NON_CODING|NR_038272.1|15|1)","K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000040380.2|RCV000125828.1,,0.5593,0.4078,0.2535,0.32,0.53,0.23,,,0.000(P),"1.07,1.07,1.07,1.07(T,T,T,T)",0.0000(T),0.016,2.767580,5.6,5.6,-0.226000,1.386000,6.042000,0.770000,0.998000,1.000000,14.7926
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Tyr18164His/c.54490T>C,Tat/Cat,MODERATE,,,,rs370135374,0(D),"0.141,0.141,0.241,0.241(B,B,B,B)",1.28(L),-0.8661(T),,chr2,179468924,179468924,A,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr16523His/c.49567T>C|34350|TTN|protein_coding|CODING|NM_001256850.1|232|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr18164His/c.54490T>C|35991|TTN|protein_coding|CODING|NM_001267550.2|282|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr9099His/c.27295T>C|26926|TTN|protein_coding|CODING|NM_003319.4|110|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr15596His/c.46786T>C|33423|TTN|protein_coding|CODING|NM_133378.4|231|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr9224His/c.27670T>C|27051|TTN|protein_coding|CODING|NM_133432.3|111|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr9291His/c.27871T>C|27118|TTN|protein_coding|CODING|NM_133437.4|111|1),intron_variant(MODIFIER|||n.37-24591A>G||MIR548N||NON_CODING|NR_031666.1|3|1),intron_variant(MODIFIER|||n.683-3970A>G||TTN-AS1||NON_CODING|NR_038271.1|3|1),intron_variant(MODIFIER|||n.3918-534A>G||TTN-AS1||NON_CODING|NR_038272.1|16|1)","H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3",,RCV000040361.1,,,,,0.00,0.00,0.00,,,1.000(D),"0.61,0.61,0.61,0.61(T,T,T,T)",0.1450(T),0.338,2.633220,6.17,6.17,0.533000,2.371000,9.281000,0.997000,0.997000,1.000000,16.8222
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Glu11278Glu/c.33834G>A,gaG/gaA,LOW,COSM1129419(1),0.238419,0.4454,rs35112591,,,,,,chr2,179543217,179543217,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu10961Glu/c.32883G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|142|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu11278Glu/c.33834G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|144|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu10034Glu/c.30102G>A|33423|TTN|protein_coding|CODING|NM_133378.4|141|1),intron_variant(MODIFIER|||c.13283-36173G>A|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13658-36173G>A|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13859-36173G>A|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)",HSMM:H3K36me3,,RCV000040164.2|RCV000125772.1,,0.2853,0.183,0.1581,0.15,0.14,0.16,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ile10522Val/c.31564A>G,Att/Gtt,MODERATE,,0.477835,0.5685,rs2042995,0(D),,-1.095(N),-1.0025(T),,chr2,179558366,179558366,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile10205Val/c.30613A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|117|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile10522Val/c.31564A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|119|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile9278Val/c.27832A>G|33423|TTN|protein_coding|CODING|NM_133378.4|116|1),intron_variant(MODIFIER|||c.13282+44443A>G|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+44443A>G|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+44443A>G|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)",HUVEC:H3K27me3,,RCV000040122.2|RCV000125754.1,,0.5164,0.4193,0.2455,0.33,0.56,0.23,,,0.000(P),0.18(T),0.0000(T),0.149,-0.730053,5.85,5.85,-0.128000,1.498000,1.140000,0.933000,1.000000,0.947000,9.3114
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Asn8979His/c.26935A>C,Aat/Cat,MODERATE,,,,rs376982715,0(D),0.979(D),1.49(L),-0.1817(T),,chr2,179577926,179577926,T,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn8662His/c.25984A>C|34350|TTN|protein_coding|CODING|NM_001256850.1|91|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn8979His/c.26935A>C|35991|TTN|protein_coding|CODING|NM_001267550.2|93|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn7735His/c.23203A>C|33423|TTN|protein_coding|CODING|NM_133378.4|90|1),intron_variant(MODIFIER|||c.13282+24883A>C|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+24883A>C|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+24883A>C|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000040061.1,,,,,0.00,0.00,0.00,,,1.000(D),-0.32(T),0.4143(T),0.146,1.854795,5.96,5.96,0.533000,2.285000,6.258000,0.962000,1.000000,1.000000,16.4484
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Ser8885Ser/c.26655C>T,tcC/tcT,LOW,,0.444688,0.6567,rs2562839,,,,,,chr2,179578730,179578730,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser8568Ser/c.25704C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|90|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser8885Ser/c.26655C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|92|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser7641Ser/c.22923C>T|33423|TTN|protein_coding|CODING|NM_133378.4|89|1),intron_variant(MODIFIER|||c.13282+24079C>T|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+24079C>T|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+24079C>T|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000040054.3|RCV000126165.1,,0.4734,0.379,0.2237,0.26,0.40,0.20,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Asn8803Ser/c.26408A>G,aAt/aGt,MODERATE,,0.247005,0.4365,rs12693164,0(D),0.004(B),1.245(L),-0.9922(T),,chr2,179579093,179579093,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn8486Ser/c.25457A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|89|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn8803Ser/c.26408A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|91|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn7559Ser/c.22676A>G|33423|TTN|protein_coding|CODING|NM_133378.4|88|1),intron_variant(MODIFIER|||c.13282+23716A>G|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+23716A>G|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+23716A>G|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000040047.2|RCV000126163.1,,0.2607,0.1859,0.1561,0.15,0.16,0.15,,,0.000(P),-0.3(T),0.0000(T),0.036,0.752982,5.96,2.25,-2.240000,-0.075000,0.818000,0.345000,0.983000,1.000000,12.1749
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Glu8763Glu/c.26289A>G,gaA/gaG,LOW,,0.483427,0.6587,rs2562838,,,,,,chr2,179579212,179579212,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu8446Glu/c.25338A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|89|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu8763Glu/c.26289A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|91|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu7519Glu/c.22557A>G|33423|TTN|protein_coding|CODING|NM_133378.4|88|1),intron_variant(MODIFIER|||c.13282+23597A>G|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+23597A>G|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+23597A>G|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000040046.2|RCV000126162.1,,0.4734,0.3934,0.2237,0.31,0.53,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Leu8697Leu/c.26091A>T,ctA/ctT,LOW,,0.444489,0.6577,rs2562836,,,,,,chr2,179579822,179579822,T,A,het,"synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu8380Leu/c.25140A>T|34350|TTN|protein_coding|CODING|NM_001256850.1|88|1),synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu8697Leu/c.26091A>T|35991|TTN|protein_coding|CODING|NM_001267550.2|90|1),synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu7453Leu/c.22359A>T|33423|TTN|protein_coding|CODING|NM_133378.4|87|1),intron_variant(MODIFIER|||c.13282+22987A>T|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+22987A>T|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+22987A>T|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000040043.2|RCV000126159.1,,0.4714,0.379,0.2237,0.26,0.40,0.20,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ser8425Asn/c.25274G>A,aGc/aAc,MODERATE,,0.24381,0.4355,rs13390491,0(D),0.041(B),1.89(L),-0.9937(T),,chr2,179582327,179582327,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser8108Asn/c.24323G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|85|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser8425Asn/c.25274G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|87|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser7181Asn/c.21542G>A|33423|TTN|protein_coding|CODING|NM_133378.4|84|1),intron_variant(MODIFIER|||c.13282+20482G>A|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+20482G>A|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+20482G>A|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HepG2:H3K27me3",,RCV000040026.2|RCV000126149.1,,0.2464,0.183,0.1571,0.15,0.16,0.15,,,0.000(P),-0.36(T),0.0000(T),0.096,0.842666,5.51,5.51,0.655000,2.738000,0.935000,0.939000,1.000000,0.357000,10.3596
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ala8355Glu/c.25064C>A,gCg/gAg,MODERATE,COSM4133318(1),0.444888,0.6577,rs2627043,0(D),,-1.045(N),-0.9898(T),,chr2,179582537,179582537,G,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala8038Glu/c.24113C>A|34350|TTN|protein_coding|CODING|NM_001256850.1|85|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala8355Glu/c.25064C>A|35991|TTN|protein_coding|CODING|NM_001267550.2|87|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala7111Glu/c.21332C>A|33423|TTN|protein_coding|CODING|NM_133378.4|84|1),splice_region_variant(LOW|||c.24113C>A|34350|TTN|protein_coding|CODING|NM_001256850.1|85|1),splice_region_variant(LOW|||c.25064C>A|35991|TTN|protein_coding|CODING|NM_001267550.2|87|1),splice_region_variant(LOW|||c.21332C>A|33423|TTN|protein_coding|CODING|NM_133378.4|84|1),intron_variant(MODIFIER|||c.13282+20272C>A|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+20272C>A|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+20272C>A|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HepG2:H3K27me3",,RCV000040020.3|RCV000126147.1,,0.4734,0.379,0.2247,0.27,0.41,0.20,,,0.000(P),0.01(T),0.0000(T),0.255,1.811212,5.87,5.87,-0.256000,1.157000,6.236000,0.986000,1.000000,1.000000,13.6839
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Glu8144Ala/c.24431A>C,gAa/gCa,MODERATE,,0.238818,0.4375,rs16866465,0(D),0.014(B),0.805(L),-1.0014(T),,chr2,179583496,179583496,T,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu7827Ala/c.23480A>C|34350|TTN|protein_coding|CODING|NM_001256850.1|82|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu8144Ala/c.24431A>C|35991|TTN|protein_coding|CODING|NM_001267550.2|84|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu6900Ala/c.20699A>C|33423|TTN|protein_coding|CODING|NM_133378.4|81|1),intron_variant(MODIFIER|||c.13282+19313A>C|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+19313A>C|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+19313A>C|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HepG2:H3K27me3",,RCV000040001.2|RCV000126140.1,,0.2464,0.183,0.1571,0.15,0.15,0.15,,,0.000(P),-0.29(T),0.0000(T),0.134,0.678028,6.01,6.01,0.528000,2.307000,5.942000,0.387000,0.490000,1.000000,16.5285
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Gln7741Gln/c.23223G>A,caG/caA,LOW,,0.982029,1,rs2562831,,,,,,chr2,179585266,179585266,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln7424Gln/c.22272G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|78|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln7741Gln/c.23223G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|80|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln6497Gln/c.19491G>A|33423|TTN|protein_coding|CODING|NM_133378.4|77|1),intron_variant(MODIFIER|||c.13282+17543G>A|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+17543G>A|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+17543G>A|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HMEC:H3K27me3,HepG2:H3K27me3",,RCV000039984.3|RCV000126134.1,,1,0.9942,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Lys7707Lys/c.23121G>A,aaG/aaA,LOW,,,,rs72648971,,,,,,chr2,179585368,179585368,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys7390Lys/c.22170G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|78|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys7707Lys/c.23121G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|80|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys6463Lys/c.19389G>A|33423|TTN|protein_coding|CODING|NM_133378.4|77|1),intron_variant(MODIFIER|||c.13282+17441G>A|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+17441G>A|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+17441G>A|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HMEC:H3K27me3,HepG2:H3K27me3",,RCV000039982.1,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Asp7462His/c.22384G>C,Gat/Cat,MODERATE,COSM3933466(1),0.247005,0.4375,rs12693166,0(D),0.995(D),2.33(M),-1.0812(T),,chr2,179587130,179587130,C,G,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp7145His/c.21433G>C|34350|TTN|protein_coding|CODING|NM_001256850.1|75|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp7462His/c.22384G>C|35991|TTN|protein_coding|CODING|NM_001267550.2|77|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp6218His/c.18652G>C|33423|TTN|protein_coding|CODING|NM_133378.4|74|1),intron_variant(MODIFIER|||c.13282+15679G>C|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+15679G>C|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+15679G>C|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000039968.2|RCV000126129.1,,0.2474,0.1844,0.1581,0.16,0.17,0.15,,,0.000(P),-0.79(T),0.0000(T),0.263,2.338338,6.16,6.16,0.650000,2.937000,7.786000,0.992000,1.000000,1.000000,20.8598
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Ser4870Ser/c.14610C>T,tcC/tcT,LOW,,0.981829,1,rs2742348,,,,,,chr2,179600563,179600563,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser4553Ser/c.13659C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|48|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser4870Ser/c.14610C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|50|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser3626Ser/c.10878C>T|33423|TTN|protein_coding|CODING|NM_133378.4|47|1),intron_variant(MODIFIER|||c.13282+2246C>T|26926|TTN|protein_coding|CODING|NM_003319.4|46|1),intron_variant(MODIFIER|||c.13657+2246C>T|27051|TTN|protein_coding|CODING|NM_133432.3|47|1),intron_variant(MODIFIER|||c.13858+2246C>T|27118|TTN|protein_coding|CODING|NM_133437.4|47|1)","HMEC:H3K27me3,HepG2:H3K27me3",,RCV000039860.3|RCV000126094.1,,1,0.9942,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Ala4260Ala/c.12780G>A,gcG/gcA,LOW,,0.238818,0.4702,rs746578,,,,,,chr2,179605180,179605180,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala3943Ala/c.11829G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|46|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4260Ala/c.12780G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|48|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala3897Ala/c.11691G>A|26926|TTN|protein_coding|CODING|NM_003319.4|45|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4022Ala/c.12066G>A|27051|TTN|protein_coding|CODING|NM_133432.3|46|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4089Ala/c.12267G>A|27118|TTN|protein_coding|CODING|NM_133437.4|46|1),intron_variant(MODIFIER|||c.10361-2093G>A|33423|TTN|protein_coding|CODING|NM_133378.4|45|1)",HepG2:H3K27me3,,"RCV000041100.1|RCV000126089.1,RCV000041099.1|RCV000126088.1",,0.2342,0.1585,0.1382,0.14,0.15,0.13,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_133379.4:p.Thr4936Ser/c.14806A>T,Act/Tct,MODERATE,,0.000399361,0,rs72648909,0.21(T),0.205(B),1.445(L),-0.7945(T),,chr2,179612321,179612321,T,A,het,"missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr4936Ser/c.14806A>T|5604|TTN|protein_coding|CODING|NM_133379.4|46|1),intron_variant(MODIFIER|||c.10360+5530A>T|33423|TTN|protein_coding|CODING|NM_133378.4|45|1),intron_variant(MODIFIER|||c.10360+5530A>T|34350|TTN|protein_coding|CODING|NM_001256850.1|45|1),intron_variant(MODIFIER|||c.11311+5530A>T|35991|TTN|protein_coding|CODING|NM_001267550.2|47|1),intron_variant(MODIFIER|||c.10222+5530A>T|26926|TTN|protein_coding|CODING|NM_003319.4|44|1),intron_variant(MODIFIER|||c.10597+5530A>T|27051|TTN|protein_coding|CODING|NM_133432.3|45|1),intron_variant(MODIFIER|||c.10798+5530A>T|27118|TTN|protein_coding|CODING|NM_133437.4|45|1)",HepG2:H3K27me3,,RCV000041046.1,,0,0.0014,0.001,0.00,0.00,0.00,,,1.000(D),-0.23(T),0.2238(T),0.142,4.164754,5.79,4.61,0.533000,0.985000,2.203000,0.529000,0.682000,0.999000,12.9544
synonymous_variant,TTN,SILENT,NM_133379.4:p.Leu4059Leu/c.12175T>C,Tta/Cta,LOW,,0.97504,1,rs10803917,,,,,,chr2,179614952,179614952,A,G,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu4059Leu/c.12175T>C|5604|TTN|protein_coding|CODING|NM_133379.4|46|1),intron_variant(MODIFIER|||c.10360+2899T>C|33423|TTN|protein_coding|CODING|NM_133378.4|45|1),intron_variant(MODIFIER|||c.10360+2899T>C|34350|TTN|protein_coding|CODING|NM_001256850.1|45|1),intron_variant(MODIFIER|||c.11311+2899T>C|35991|TTN|protein_coding|CODING|NM_001267550.2|47|1),intron_variant(MODIFIER|||c.10222+2899T>C|26926|TTN|protein_coding|CODING|NM_003319.4|44|1),intron_variant(MODIFIER|||c.10597+2899T>C|27051|TTN|protein_coding|CODING|NM_133432.3|45|1),intron_variant(MODIFIER|||c.10798+2899T>C|27118|TTN|protein_coding|CODING|NM_133437.4|45|1)","HUVEC:H3K27me3,HSMM:H3K36me3",,RCV000041012.1|RCV000126063.1,,1,0.9971,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_133379.4:p.Asp3747Gly/c.11240A>G,gAc/gGc,MODERATE,,0.733027,0.7758,rs922984,0.57(T),0.0(B),0(N),-0.9413(T),,chr2,179615887,179615887,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp3747Gly/c.11240A>G|5604|TTN|protein_coding|CODING|NM_133379.4|46|1),intron_variant(MODIFIER|||c.10360+1964A>G|33423|TTN|protein_coding|CODING|NM_133378.4|45|1),intron_variant(MODIFIER|||c.10360+1964A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|45|1),intron_variant(MODIFIER|||c.11311+1964A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|47|1),intron_variant(MODIFIER|||c.10222+1964A>G|26926|TTN|protein_coding|CODING|NM_003319.4|44|1),intron_variant(MODIFIER|||c.10597+1964A>G|27051|TTN|protein_coding|CODING|NM_133432.3|45|1),intron_variant(MODIFIER|||c.10798+1964A>G|27118|TTN|protein_coding|CODING|NM_133437.4|45|1)","HUVEC:H3K27me3,HSMM:H3K36me3",,RCV000041005.1|RCV000126060.1,,0.7822,0.6412,0.9135,0.82,0.60,0.93,,,1.000(P),0.36(T),0.0000(T),0.012,3.426069,5.77,4.54,0.533000,2.326000,1.938000,0.093000,0.816000,0.054000,5.8845
missense_variant,TTN,MISSENSE,NM_133379.4:p.Leu3732Phe/c.11196G>C,ttG/ttC,MODERATE,,0.97504,1,rs922985,0.05(D),0.004(B),0.345(N),-0.9733(T),,chr2,179615931,179615931,C,G,hom,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu3732Phe/c.11196G>C|5604|TTN|protein_coding|CODING|NM_133379.4|46|1),intron_variant(MODIFIER|||c.10360+1920G>C|33423|TTN|protein_coding|CODING|NM_133378.4|45|1),intron_variant(MODIFIER|||c.10360+1920G>C|34350|TTN|protein_coding|CODING|NM_001256850.1|45|1),intron_variant(MODIFIER|||c.11311+1920G>C|35991|TTN|protein_coding|CODING|NM_001267550.2|47|1),intron_variant(MODIFIER|||c.10222+1920G>C|26926|TTN|protein_coding|CODING|NM_003319.4|44|1),intron_variant(MODIFIER|||c.10597+1920G>C|27051|TTN|protein_coding|CODING|NM_133432.3|45|1),intron_variant(MODIFIER|||c.10798+1920G>C|27118|TTN|protein_coding|CODING|NM_133437.4|45|1)","HUVEC:H3K27me3,HSMM:H3K36me3",,RCV000041004.1|RCV000126059.1,,1,0.9971,1,0.97,0.92,1.00,,,1.000(P),0.25(T),0.0000(T),0.008,0.209868,5.77,3.9,0.655000,1.516000,-0.147000,0.578000,0.346000,0.000000,5.4881
synonymous_variant,TTN,SILENT,NM_133379.4:p.Thr3711Thr/c.11133A>G,acA/acG,LOW,,0.97504,1,rs922986,,,,,,chr2,179615994,179615994,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr3711Thr/c.11133A>G|5604|TTN|protein_coding|CODING|NM_133379.4|46|1),intron_variant(MODIFIER|||c.10360+1857A>G|33423|TTN|protein_coding|CODING|NM_133378.4|45|1),intron_variant(MODIFIER|||c.10360+1857A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|45|1),intron_variant(MODIFIER|||c.11311+1857A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|47|1),intron_variant(MODIFIER|||c.10222+1857A>G|26926|TTN|protein_coding|CODING|NM_003319.4|44|1),intron_variant(MODIFIER|||c.10597+1857A>G|27051|TTN|protein_coding|CODING|NM_133432.3|45|1),intron_variant(MODIFIER|||c.10798+1857A>G|27118|TTN|protein_coding|CODING|NM_133437.4|45|1)","HUVEC:H3K27me3,HSMM:H3K36me3",,RCV000041002.1|RCV000126057.1,,1,0.9971,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Gly3751Asp/c.11252G>A,gGt/gAt,MODERATE,,0.804513,0.7758,rs7585334,0(D),0.01(B),,-1.0208(T),,chr2,179620951,179620951,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly3751Asp/c.11252G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|46|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly3580Asp/c.10739G>A|27118|TTN|protein_coding|CODING|NM_133437.4|44|1),splice_region_variant(LOW|||c.11252G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|46|1),splice_region_variant(LOW|||c.10739G>A|27118|TTN|protein_coding|CODING|NM_133437.4|44|1),intron_variant(MODIFIER|||c.10540+1318G>A|27051|TTN|protein_coding|CODING|NM_133432.3|44|1),intron_variant(MODIFIER|||c.10303+2760G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|44|1),intron_variant(MODIFIER|||c.10165+2760G>A|26926|TTN|protein_coding|CODING|NM_003319.4|43|1),intron_variant(MODIFIER|||c.10303+2760G>A|33423|TTN|protein_coding|CODING|NM_133378.4|44|1),intron_variant(MODIFIER|||c.10303+2760G>A|5604|TTN|protein_coding|CODING|NM_133379.4|44|1)",HUVEC:H3K27me3,,RCV000041121.1|RCV000126054.1,,0.7822,0.67,0.9145,0.90,0.84,0.93,,,0.000(P),1.09(T),0.0000(T),0.106,2.677712,5.98,4.2,0.655000,0.871000,3.708000,0.971000,0.984000,1.000000,13.0646
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ala3576Thr/c.10726G>A,Gcc/Acc,MODERATE,,0.999002,1,rs6433728,0(D),0.0(B),,-1.0370(T),,chr2,179621477,179621477,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala3576Thr/c.10726G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|46|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala3405Thr/c.10213G>A|27118|TTN|protein_coding|CODING|NM_133437.4|44|1),intron_variant(MODIFIER|||c.10540+792G>A|27051|TTN|protein_coding|CODING|NM_133432.3|44|1),intron_variant(MODIFIER|||c.10303+2234G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|44|1),intron_variant(MODIFIER|||c.10165+2234G>A|26926|TTN|protein_coding|CODING|NM_003319.4|43|1),intron_variant(MODIFIER|||c.10303+2234G>A|33423|TTN|protein_coding|CODING|NM_133378.4|44|1),intron_variant(MODIFIER|||c.10303+2234G>A|5604|TTN|protein_coding|CODING|NM_133379.4|44|1)","HUVEC:H3K27me3,HSMM:DNase1",,,,1,1,1,1.00,1.00,1.00,,,0.000(P),0.28(T),0.0000(T),0.008,2.366304,6.02,1.92,-0.254000,0.164000,0.226000,0.977000,0.999000,0.998000,6.5173
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ser3419Asn/c.10256G>A,aGt/aAt,MODERATE,,0.808906,0.7847,rs2291310,0(D),"0.001,0.003,0.003,0.003(B,B,B,B)",1.99(M),-0.9791(T),,chr2,179623758,179623758,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3419Asn/c.10256G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|44|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3419Asn/c.10256G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|44|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3373Asn/c.10118G>A|26926|TTN|protein_coding|CODING|NM_003319.4|43|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3419Asn/c.10256G>A|33423|TTN|protein_coding|CODING|NM_133378.4|44|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3419Asn/c.10256G>A|5604|TTN|protein_coding|CODING|NM_133379.4|44|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3373Asn/c.10118G>A|27051|TTN|protein_coding|CODING|NM_133432.3|43|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3373Asn/c.10118G>A|27118|TTN|protein_coding|CODING|NM_133437.4|43|1)",HUVEC:H3K27me3,,RCV000039852.3|RCV000126048.1,,0.7832,0.67,0.9145,0.90,0.84,0.93,,,1.000(P),"-0.3,-0.3,-0.3,-0.3,-0.3(T,T,T,T,T)",0.0000(T),0.044,1.848383,6.03,-3.23,-0.150000,-0.597000,0.398000,0.969000,0.017000,0.044000,7.4849
synonymous_variant,TTN,SILENT,NM_001267550.2:p.Glu3293Glu/c.9879A>G,gaA/gaG,LOW,,0.973642,1,rs386596225,,,,,,chr2,179629363,179629363,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3293Glu/c.9879A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|42|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3293Glu/c.9879A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|42|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3247Glu/c.9741A>G|26926|TTN|protein_coding|CODING|NM_003319.4|41|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3293Glu/c.9879A>G|33423|TTN|protein_coding|CODING|NM_133378.4|42|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3293Glu/c.9879A>G|5604|TTN|protein_coding|CODING|NM_133379.4|42|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3247Glu/c.9741A>G|27051|TTN|protein_coding|CODING|NM_133432.3|41|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3247Glu/c.9741A>G|27118|TTN|protein_coding|CODING|NM_133437.4|41|1)","HUVEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3",,RCV000040976.3|RCV000126043.1,,1,0.9942,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Val3261Met/c.9781G>A,Gtg/Atg,MODERATE,,0.804912,0.7847,rs2291311,0(D),"0.721,0.721,0.721,0.871(P,P,P,P)",1.49(L),-1.0646(T),,chr2,179629461,179629461,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val3261Met/c.9781G>A|34350|TTN|protein_coding|CODING|NM_001256850.1|42|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val3261Met/c.9781G>A|35991|TTN|protein_coding|CODING|NM_001267550.2|42|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val3215Met/c.9643G>A|26926|TTN|protein_coding|CODING|NM_003319.4|41|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val3261Met/c.9781G>A|33423|TTN|protein_coding|CODING|NM_133378.4|42|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val3261Met/c.9781G>A|5604|TTN|protein_coding|CODING|NM_133379.4|42|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val3215Met/c.9643G>A|27051|TTN|protein_coding|CODING|NM_133432.3|41|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val3215Met/c.9643G>A|27118|TTN|protein_coding|CODING|NM_133437.4|41|1)","HUVEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3",,RCV000040961.3|RCV000126041.1,,0.7832,0.6671,0.9145,0.90,0.83,0.93,,,0.999(P),"-0.25,-0.25,-0.25,-0.25,-0.25(T,T,T,T,T)",0.0000(T),0.334,2.152216,5.69,4.82,-0.119000,1.423000,1.093000,0.969000,0.951000,0.479000,11.6144
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Ser1295Leu/c.3884C>T,tCa/tTa,MODERATE,,0.920128,0.8829,rs1552280,0(D),"0.0,0.0,0.0,0.0(B,B,B,B)",0.355(N),-0.9608(T),,chr2,179644035,179644035,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1295Leu/c.3884C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|23|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1295Leu/c.3884C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|23|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1249Leu/c.3746C>T|26926|TTN|protein_coding|CODING|NM_003319.4|22|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1295Leu/c.3884C>T|33423|TTN|protein_coding|CODING|NM_133378.4|23|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1295Leu/c.3884C>T|5604|TTN|protein_coding|CODING|NM_133379.4|23|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1249Leu/c.3746C>T|27051|TTN|protein_coding|CODING|NM_133432.3|22|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1249Leu/c.3746C>T|27118|TTN|protein_coding|CODING|NM_133437.4|22|1),intron_variant(MODIFIER|||n.1831-530G>A||LOC101927055||NON_CODING|NR_120594.1|1|1)","HUVEC:H3K27me3,HSMM:H3K36me3,CD4:H3K36me3",,RCV000040271.2|RCV000126009.1,,0.9591,0.9496,0.992,0.95,0.87,0.99,,,0.999(P),"-0.27,-0.27,-0.27,-0.27,-0.27(T,T,T,T,T)",0.0000(T),0.093,2.314358,5.72,5.72,-0.254000,1.008000,6.248000,0.873000,0.761000,1.000000,11.8424
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Lys1201Glu/c.3601A>G,Aaa/Gaa,MODERATE,COSM4001424(2),0.5002,0.2173,rs10497520,0(D),"0.036,0.036,0.036,0.036,0.453(B,B,B,B,P)",0.695(N),-1.0632(T),,chr2,179644855,179644855,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1201Glu/c.3601A>G|34350|TTN|protein_coding|CODING|NM_001256850.1|22|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1201Glu/c.3601A>G|35991|TTN|protein_coding|CODING|NM_001267550.2|22|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1155Glu/c.3463A>G|26926|TTN|protein_coding|CODING|NM_003319.4|21|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1201Glu/c.3601A>G|33423|TTN|protein_coding|CODING|NM_133378.4|22|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1201Glu/c.3601A>G|5604|TTN|protein_coding|CODING|NM_133379.4|22|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1155Glu/c.3463A>G|27051|TTN|protein_coding|CODING|NM_133432.3|21|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1155Glu/c.3463A>G|27118|TTN|protein_coding|CODING|NM_133437.4|21|1),downstream_gene_variant(MODIFIER||165|||LOC101927055||NON_CODING|NR_120594.1||1)","HUVEC:H3K27me3,HSMM:H3K36me3",,RCV000040243.2|RCV000126001.1,,0.544,0.5086,0.8569,0.73,0.47,0.87,,,0.796(P),"0.0,0.21,0.19,0.18,0.37(T,T,T,T,T)",0.0000(T),0.588,2.748077,5.78,4.56,0.528000,2.204000,4.116000,0.983000,1.000000,1.000000,12.6469
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Thr811Ile/c.2432C>T,aCa/aTa,MODERATE,COSM3757820(1),0.100439,0.001,rs35813871,0(D),"0.593,0.593,0.593,0.794,0.951(P,P,P,P,D)",0.895(L),-1.1161(T),,chr2,179650408,179650408,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr811Ile/c.2432C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|15|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr811Ile/c.2432C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|15|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr765Ile/c.2294C>T|26926|TTN|protein_coding|CODING|NM_003319.4|14|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr811Ile/c.2432C>T|33423|TTN|protein_coding|CODING|NM_133378.4|15|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr811Ile/c.2432C>T|5604|TTN|protein_coding|CODING|NM_133379.4|15|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr765Ile/c.2294C>T|27051|TTN|protein_coding|CODING|NM_133432.3|14|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr765Ile/c.2294C>T|27118|TTN|protein_coding|CODING|NM_133437.4|14|1)",HepG2:H3K27me3,,RCV000040075.2|RCV000125850.1,,0.0685,0.1499,0.2157,0.19,0.10,0.23,,,0.062(P),"-0.08,0.16,0.17,0.16,0.25(T,T,T,T,T)",0.0002(T),0.639,2.460217,5.51,5.51,0.655000,2.738000,5.619000,0.974000,1.000000,1.000000,19.7837
missense_variant,TTN,MISSENSE,NM_001267550.2:p.Arg328Cys/c.982C>T,Cgt/Tgt,MODERATE,,0.236022,0.5883,rs16866538,0(D),"0.01,0.01,0.01,0.01,0.158(B,B,B,B,B)",1.59(L),-0.8915(T),,chr2,179659912,179659912,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg328Cys/c.982C>T|34350|TTN|protein_coding|CODING|NM_001256850.1|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg328Cys/c.982C>T|35991|TTN|protein_coding|CODING|NM_001267550.2|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg328Cys/c.982C>T|26926|TTN|protein_coding|CODING|NM_003319.4|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg328Cys/c.982C>T|33423|TTN|protein_coding|CODING|NM_133378.4|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg328Cys/c.982C>T|5604|TTN|protein_coding|CODING|NM_133379.4|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg328Cys/c.982C>T|27051|TTN|protein_coding|CODING|NM_133432.3|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg328Cys/c.982C>T|27118|TTN|protein_coding|CODING|NM_133437.4|7|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000040972.2|RCV000125767.1,,0.2168,0.098,0.0477,0.09,0.16,0.05,,,0.001(P),"-0.7,-0.33,-0.38,-0.39,-0.36(T,T,T,T,T)",0.0000(T),0.809,0.765811,6.17,5.3,0.655000,1.626000,5.683000,0.028000,0.102000,1.000000,11.7311
synonymous_variant,CCDC141,SILENT,NM_173648.3:p.Pro1226Pro/c.3678T>C,ccT/ccC,LOW,,0.988019,1,rs1032283,,,,,,chr2,179702268,179702268,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1226Pro/c.3678T>C|1530|CCDC141|protein_coding|CODING|NM_173648.3|23|1),"NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CCDC141,SILENT,NM_173648.3:p.Ser159Ser/c.477T>C,agT/agC,LOW,,0.324481,0.7004,rs10930846,,,,,,chr2,179839833,179839833,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser159Ser/c.477T>C|1530|CCDC141|protein_coding|CODING|NM_173648.3|4|1),HUVEC:H3K27me3,,,,0.3344,0.3444,0.2684,,,,,,,,,,,,,,,,,,,
synonymous_variant,SESTD1,SILENT,NM_178123.4:p.Lys21Lys/c.63A>G,aaA/aaG,LOW,,0.859625,0.9077,rs6757681,,,,,,chr2,180047908,180047908,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys21Lys/c.63A>G|696|SESTD1|protein_coding|CODING|NM_178123.4|3|1),HepG2:H3K36me3,,,,0.9294,0.8314,0.7873,0.79,0.84,0.77,,,,,,,,,,,,,,,,
synonymous_variant,CWC22,SILENT,NM_020943.2:p.Ala801Ala/c.2403G>A,gcG/gcA,LOW,COSM4154711(1),0.606629,0.5317,rs6433817,,,,,,chr2,180810180,180810180,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala801Ala/c.2403G>A|908|CWC22|protein_coding|CODING|NM_020943.2|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6984,0.4193,0.7117,0.68,0.62,0.70,,,,,,,,,,,,,,,,
missense_variant,CWC22,MISSENSE,NM_020943.2:p.Ser773Arg/c.2319T>A,agT/agA,MODERATE,,0.93131,0.9931,rs6433818,1(T),0.0(B),-1.59(N),-1.0295(T),,chr2,180810264,180810264,A,T,het,missense_variant(MODERATE|MISSENSE|agT/agA|p.Ser773Arg/c.2319T>A|908|CWC22|protein_coding|CODING|NM_020943.2|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8967,0.8963,0.8976,0.90,0.94,0.88,,0.000157(N),1.000(P),"3.65,3.65(T,T)",0.0000(T),0.055,-1.528003,4.61,-0.613,-1.178000,-0.316000,0.475000,0.328000,0.966000,0.998000,3.0684
synonymous_variant,CWC22,SILENT,NM_020943.2:p.Val272Val/c.816A>T,gtA/gtT,LOW,,0.822085,0.7579,rs3768837,,,,,,chr2,180835792,180835792,T,A,het,synonymous_variant(LOW|SILENT|gtA/gtT|p.Val272Val/c.816A>T|908|CWC22|protein_coding|CODING|NM_020943.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8374,0.7925,0.838,0.82,0.84,0.82,,,,,,,,,,,,,,,,
missense_variant,ITGA4,MISSENSE,NM_000885.4:p.Arg878Gln/c.2633G>A,cGg/cAg,MODERATE,,0.790535,0.8413,rs1143676,0.48(T),0.041(B),0(N),-1.0252(T),,chr2,182395345,182395345,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg878Gln/c.2633G>A|1032|ITGA4|protein_coding|CODING|NM_000885.4|24|1),"HSMM:H3K36me3,GM06990:H3K36me3",,,,0.9039,0.8026,0.669,0.70,0.75,0.68,,0.486427(N),1.000(P),0.93(T),0.0000(T),0.077,1.390478,5.45,-10.9,-0.360000,-3.283000,-3.957000,0.053000,0.000000,0.000000,1.4346
synonymous_variant,ITGA4,SILENT,NM_000885.4:p.Leu993Leu/c.2979A>G,ctA/ctG,LOW,,0.997404,1,rs2124443,,,,,,chr2,182399638,182399638,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu993Leu/c.2979A>G|1032|ITGA4|protein_coding|CODING|NM_000885.4|27|1),downstream_gene_variant(MODIFIER||1763||558|CERKL|protein_coding|CODING|NM_001030311.2||1),downstream_gene_variant(MODIFIER||1763||419|CERKL|protein_coding|CODING|NM_001030312.2||1),downstream_gene_variant(MODIFIER||1763||463|CERKL|protein_coding|CODING|NM_001030313.2||1),downstream_gene_variant(MODIFIER||1763||514|CERKL|protein_coding|CODING|NM_001160277.1||1),downstream_gene_variant(MODIFIER||1763||532|CERKL|protein_coding|CODING|NM_201548.4||1),downstream_gene_variant(MODIFIER||1763|||CERKL||CODING|NR_027689.1||1),downstream_gene_variant(MODIFIER||1763|||CERKL||CODING|NR_027690.1||1)","NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ITGA4,SILENT,NM_000885.4:p.Asn1026Asn/c.3078C>T,aaC/aaT,LOW,,0.00559105,0,rs61731209,,,,,,chr2,182400233,182400233,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1026Asn/c.3078C>T|1032|ITGA4|protein_coding|CODING|NM_000885.4|28|1),downstream_gene_variant(MODIFIER||1168||558|CERKL|protein_coding|CODING|NM_001030311.2||1),downstream_gene_variant(MODIFIER||1168||419|CERKL|protein_coding|CODING|NM_001030312.2||1),downstream_gene_variant(MODIFIER||1168||463|CERKL|protein_coding|CODING|NM_001030313.2||1),downstream_gene_variant(MODIFIER||1168||514|CERKL|protein_coding|CODING|NM_001160277.1||1),downstream_gene_variant(MODIFIER||1168||532|CERKL|protein_coding|CODING|NM_201548.4||1),downstream_gene_variant(MODIFIER||1168|||CERKL||CODING|NR_027689.1||1),downstream_gene_variant(MODIFIER||1168|||CERKL||CODING|NR_027690.1||1)","NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0086,0.006,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,CERKL,SILENT,NM_001030311.2:p.Asp528Asp/c.1584C>T,gaC/gaT,LOW,,0.991214,1,rs10180793,,,,,,chr2,182403851,182403851,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp528Asp/c.1584C>T|558|CERKL|protein_coding|CODING|NM_001030311.2|13|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp389Asp/c.1167C>T|419|CERKL|protein_coding|CODING|NM_001030312.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp433Asp/c.1299C>T|463|CERKL|protein_coding|CODING|NM_001030313.2|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp484Asp/c.1452C>T|514|CERKL|protein_coding|CODING|NM_001160277.1|12|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp502Asp/c.1506C>T|532|CERKL|protein_coding|CODING|NM_201548.4|12|1),downstream_gene_variant(MODIFIER||1383||1032|ITGA4|protein_coding|CODING|NM_000885.4||1),non_coding_exon_variant(MODIFIER|||n.1411C>T||CERKL||CODING|NR_027689.1|10|1),non_coding_exon_variant(MODIFIER|||n.1543C>T||CERKL||CODING|NR_027690.1|11|1)","NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PPP1R1C,SILENT,NM_001261424.1:p.Ala99Ala/c.297A>G,gcA/gcG,LOW,COSM3757833(3),0.340256,0.2183,rs1882212,,,,,,chr2,182981968,182981968,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala99Ala/c.297A>G|116|PPP1R1C|protein_coding|CODING|NM_001261424.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala92Ala/c.276A>G|109|PPP1R1C|protein_coding|CODING|NM_001261425.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala92Ala/c.276A>G|109|PPP1R1C|protein_coding|CODING|NM_001080545.2|5|1),non_coding_exon_variant(MODIFIER|||n.563A>G||PPP1R1C||CODING|NR_048566.1|5|1),non_coding_exon_variant(MODIFIER|||n.574A>G||PPP1R1C||CODING|NR_048567.1|5|1)","NH-A:DNase1,HSMM:H3K27me3",,,,0.3405,0.2219,0.2048,0.31,0.52,0.22,,,,,,,,,,,,,,,,
missense_variant,DNAJC10,MISSENSE,NM_018981.2:p.Asp76Asn/c.226G>A,Gat/Aat,MODERATE,,0.352037,0.2996,rs6729801,0.49(T),"0.001,0.001(B,B)",0.295(N),-0.9189(T),,chr2,183584755,183584755,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp76Asn/c.226G>A|747|DNAJC10|protein_coding|CODING|NM_001271581.1|4|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp76Asn/c.226G>A|793|DNAJC10|protein_coding|CODING|NM_018981.2|4|1),non_coding_exon_variant(MODIFIER|||n.872G>A||DNAJC10||CODING|NR_073365.1|4|1),non_coding_exon_variant(MODIFIER|||n.872G>A||DNAJC10||CODING|NR_073366.1|4|1),non_coding_exon_variant(MODIFIER|||n.872G>A||DNAJC10||CODING|NR_073367.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.3833,0.5586,0.44,0.17,0.57,,0.014230(N),0.045(P),"1.55,1.55(T,T)",0.0000(T),0.029,2.939858,5.93,5.05,0.563000,2.802000,5.065000,0.966000,1.000000,1.000000,5.7114
synonymous_variant,DNAJC10,SILENT,NM_018981.2:p.Ser203Ser/c.609C>T,agC/agT,LOW,,0.66254,0.5109,rs288280,,,,,,chr2,183593697,183593697,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser203Ser/c.609C>T|747|DNAJC10|protein_coding|CODING|NM_001271581.1|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser203Ser/c.609C>T|793|DNAJC10|protein_coding|CODING|NM_018981.2|7|1),non_coding_exon_variant(MODIFIER|||n.1255C>T||DNAJC10||CODING|NR_073365.1|7|1),non_coding_exon_variant(MODIFIER|||n.1255C>T||DNAJC10||CODING|NR_073366.1|7|1),non_coding_exon_variant(MODIFIER|||n.1255C>T||DNAJC10||CODING|NR_073367.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7025,0.5303,0.6491,0.70,0.80,0.64,,,,,,,,,,,,,,,,
missense_variant,DNAJC10,MISSENSE,NM_018981.2:p.His646Gln/c.1938T>G,caT/caG,MODERATE,,0.66254,0.5109,rs288334,0.7(T),"0.001,0.0(B,B)",-0.345(N),-1.0327(T),,chr2,183622547,183622547,T,G,het,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His600Gln/c.1800T>G|747|DNAJC10|protein_coding|CODING|NM_001271581.1|18|1),missense_variant(MODERATE|MISSENSE|caT/caG|p.His646Gln/c.1938T>G|793|DNAJC10|protein_coding|CODING|NM_018981.2|19|1),non_coding_exon_variant(MODIFIER|||n.3338T>G||DNAJC10||CODING|NR_073365.1|19|1),non_coding_exon_variant(MODIFIER|||n.3441T>G||DNAJC10||CODING|NR_073366.1|20|1),non_coding_exon_variant(MODIFIER|||n.2477T>G||DNAJC10||CODING|NR_073367.1|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.5317,0.6481,0.70,0.80,0.64,,0.027995(N),0.000(P),1.15(T),0.0000(T),0.075,0.339188,5.78,-1.75,-0.738000,-0.777000,-0.278000,0.979000,0.921000,0.633000,4.2844
synonymous_variant,DNAJC10,SILENT,NM_018981.2:p.Lys747Lys/c.2241A>G,aaA/aaG,LOW,,0.623403,0.5109,rs192618,,,,,,chr2,183627504,183627504,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys701Lys/c.2103A>G|747|DNAJC10|protein_coding|CODING|NM_001271581.1|21|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys747Lys/c.2241A>G|793|DNAJC10|protein_coding|CODING|NM_018981.2|22|1),non_coding_exon_variant(MODIFIER|||n.3641A>G||DNAJC10||CODING|NR_073365.1|22|1),non_coding_exon_variant(MODIFIER|||n.3744A>G||DNAJC10||CODING|NR_073366.1|23|1),non_coding_exon_variant(MODIFIER|||n.2780A>G||DNAJC10||CODING|NR_073367.1|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.681,0.5187,0.6431,0.66,0.71,0.64,,,,,,,,,,,,,,,,
missense_variant,ZNF804A,MISSENSE,NM_194250.1:p.Gln261Leu/c.782A>T,cAa/cTa,MODERATE,,0.619209,0.8373,rs12476147,0.22(T),0.0(B),-1.5(N),-1.0647(T),,chr2,185800905,185800905,A,T,hom,missense_variant(MODERATE|MISSENSE|cAa/cTa|p.Gln261Leu/c.782A>T|1209|ZNF804A|protein_coding|CODING|NM_194250.1|4|1),,,,,0.5859,0.6945,0.6193,0.58,0.48,0.63,,0.203135(N),1.000(P),3.49(T),0.0000(T),0.038,0.848607,5.42,0.194,-0.336000,-0.220000,-0.501000,0.936000,0.334000,0.000000,1.0106
missense_variant,ZNF804A,MISSENSE,NM_194250.1:p.Glu542Lys/c.1624G>A,Gag/Aag,MODERATE,,0.490216,0.8383,rs4667001,0.1(T),0.006(B),1.795(L),-1.0500(T),,chr2,185801747,185801747,G,A,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu542Lys/c.1624G>A|1209|ZNF804A|protein_coding|CODING|NM_194250.1|4|1),,,,,0.5194,0.6326,0.5825,0.43,0.14,0.58,,0.029136(N),1.000(P),3.26(T),0.0000(T),0.061,0.741883,5.35,3.22,0.650000,1.257000,1.210000,0.128000,0.437000,0.493000,6.2503
synonymous_variant,ZNF804A,SILENT,NM_194250.1:p.Thr544Thr/c.1632A>G,acA/acG,LOW,,0.786741,0.8839,rs4667002,,,,,,chr2,185801755,185801755,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr544Thr/c.1632A>G|1209|ZNF804A|protein_coding|CODING|NM_194250.1|4|1),,,,,0.7065,0.8242,0.7783,0.78,0.78,0.78,,,,,,,,,,,,,,,,
missense_variant,ZNF804A,MISSENSE,NM_194250.1:p.Thr707Lys/c.2120C>A,aCa/aAa,MODERATE,COSM4133322(1),0.490016,0.8383,rs1366842,1(T),0.002(B),1.39(L),-0.9417(T),,chr2,185802243,185802243,C,A,hom,missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr707Lys/c.2120C>A|1209|ZNF804A|protein_coding|CODING|NM_194250.1|4|1),,,,,0.5174,0.6326,0.5825,0.43,0.14,0.58,,0.653798(N),1.000(P),3.45(T),0.0000(T),0.035,-0.890751,5.78,1.86,-0.795000,0.065000,0.066000,0.218000,0.000000,0.000000,5.764
missense_variant,ZNF804A,MISSENSE,NM_194250.1:p.His747Arg/c.2240A>G,cAc/cGc,MODERATE,,0.704273,0.8671,rs12477430,0.4(T),0.0(B),-0.69(N),-1.0483(T),,chr2,185802363,185802363,A,G,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His747Arg/c.2240A>G|1209|ZNF804A|protein_coding|CODING|NM_194250.1|4|1),,,,,0.6391,0.7507,0.6889,0.68,0.64,0.71,,0.993933(N),1.000(P),3.47(T),0.0000(T),0.004,-0.595664,5.85,2.05,-0.119000,-0.093000,0.078000,0.043000,0.000000,0.000000,9.8238
synonymous_variant,FSIP2,SILENT,NM_173651.2:p.Lys467Lys/c.1401A>G,aaA/aaG,LOW,,0.540335,0.4702,rs7562137,,,,,,chr2,186625770,186625770,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys467Lys/c.1401A>G|6996|FSIP2|protein_coding|CODING|NM_173651.2|10|1),,,,,0.6544,0.4928,0.5089,,,,,,,,,,,,,,,,,,,
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Ile514Thr/c.1541T>C,aTt/aCt,MODERATE,,0.540335,0.4702,rs17228441,0.04(D),0.242(B),0.895(L),-0.9450(T),,chr2,186627943,186627943,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile514Thr/c.1541T>C|6996|FSIP2|protein_coding|CODING|NM_173651.2|12|1),,,,,0.6544,0.4928,0.5089,,,,,0.603170(N),1.000(P),"0.41,0.42(T,T)",0.0000(T),0.332,1.562444,3.18,3.18,0.477000,1.711000,0.187000,0.027000,0.116000,0.013000,8.15
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Asn999Ser/c.2996A>G,aAt/aGt,MODERATE,,0.540335,0.4702,rs992822,1(T),,-1.245(N),-0.9424(T),,chr2,186654592,186654592,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn999Ser/c.2996A>G|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6544,0.4928,0.5089,,,,,0.010005(N),1.000(P),"1.32,1.32(T,T)",0.0000(T),0.061,-1.879707,4.99,4.99,-0.186000,1.339000,1.534000,0.133000,0.089000,0.634000,9.43
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Arg1377Gln/c.4130G>A,cGa/cAa,MODERATE,,0.956669,0.9425,rs10931199,1(T),,-0.975(N),-0.9613(T),,chr2,186655726,186655726,G,A,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1377Gln/c.4130G>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.9959,0.9179,0.9891,,,,,0.702387(N),1.000(P),"0.89,0.89(T,T)",0.0000(T),0.053,-0.418773,5.39,4.33,-0.269000,0.501000,0.736000,0.738000,0.003000,0.000000,4.6455
synonymous_variant,FSIP2,SILENT,NM_173651.2:p.Asn1687Asn/c.5061C>T,aaC/aaT,LOW,,0.630391,0.5357,rs10173807,,,,,,chr2,186656657,186656657,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1687Asn/c.5061C>T|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.7096,0.5605,0.6223,,,,,,,,,,,,,,,,,,,
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Met1787Thr/c.5360T>C,aTg/aCg,MODERATE,,0.539936,0.4702,rs17229201,1(T),,-1.1(N),-0.9094(T),,chr2,186656956,186656956,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1787Thr/c.5360T>C|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6544,0.4928,0.5089,,,,,0.186733(N),1.000(P),"1.08,1.08(T,T)",0.0000(T),0.062,-2.558868,5.16,3.39,-0.939000,0.368000,0.301000,0.007000,0.371000,0.221000,9.5204
synonymous_variant,FSIP2,SILENT,NM_173651.2:p.Ser1831Ser/c.5493C>A,tcC/tcA,LOW,,0.540136,0.4702,rs17229222,,,,,,chr2,186657089,186657089,C,A,het,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser1831Ser/c.5493C>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6544,0.4914,0.5089,,,,,,,,,,,,,,,,,,,
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Asp2154Asn/c.6460G>A,Gat/Aat,MODERATE,,0.538139,0.4702,rs60029104,0.87(T),,0(N),-0.9635(T),,chr2,186658056,186658056,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp2154Asn/c.6460G>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6483,0.4899,0.506,,,,,,1.000(P),"0.92,0.92(T,T)",0.0000(T),0.036,-1.896177,5.45,-8.97,0.655000,-1.817000,-1.613000,0.003000,0.000000,0.000000,4.2058
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Thr2281Met/c.6842C>T,aCg/aTg,MODERATE,,0.540335,0.4712,rs10490391,0.21(T),,0(N),-0.9391(T),,chr2,186658438,186658438,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr2281Met/c.6842C>T|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6544,0.4928,0.508,,,,,,1.000(P),"0.95,0.96(T,T)",0.0000(T),0.104,-2.364923,5.65,-1.94,-0.982000,-0.467000,-1.694000,0.004000,0.001000,0.000000,12.241
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Glu2323Asp/c.6969G>T,gaG/gaT,MODERATE,,0.540335,0.4702,rs10490392,0.39(T),,0(N),-0.9240(T),,chr2,186658565,186658565,G,T,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu2323Asp/c.6969G>T|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6544,0.4928,0.5089,,,,,,1.000(P),"0.87,0.88(T,T)",0.0000(T),0.161,0.344590,5.51,-1.3,0.561000,-0.432000,-0.005000,0.195000,0.000000,0.000000,1.6344
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Gln2530Lys/c.7588C>A,Caa/Aaa,MODERATE,,0.0439297,0.001,rs77937204,0(D),,0(N),-1.0051(T),,chr2,186659184,186659184,C,A,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln2530Lys/c.7588C>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.09,0.0432,0.0964,,,,,,1.000(N),"0.97,0.98(T,T)",0.0018(T),0.188,2.320173,5.5,-11.0,0.655000,-2.050000,-3.688000,0.004000,0.000000,0.000000,1.6371
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Arg2588Met/c.7763G>T,aGg/aTg,MODERATE,,0.540335,0.4702,rs2161036,1(T),,-1.1(N),-0.9145(T),,chr2,186659359,186659359,G,T,het,missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg2588Met/c.7763G>T|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6544,0.4928,0.508,,,,,,1.000(P),"1.14,1.14(T,T)",0.0000(T),0.447,-0.961361,5.3,2.79,-0.256000,0.435000,0.139000,0.633000,0.731000,0.175000,2.3006
synonymous_variant,FSIP2,SILENT,NM_173651.2:p.Leu3359Leu/c.10077A>G,ttA/ttG,LOW,,0.540535,0.4702,rs55938253,,,,,,chr2,186661673,186661673,A,G,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu3359Leu/c.10077A>G|6996|FSIP2|protein_coding|CODING|NM_173651.2|16|1),,,,,0.6544,0.4928,0.5099,,,,,,,,,,,,,,,,,,,
synonymous_variant,FSIP2,SILENT,NM_173651.2:p.Tyr3569Tyr/c.10707T>C,taT/taC,LOW,,0.540735,0.4702,rs11686997,,,,,,chr2,186664473,186664473,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr3569Tyr/c.10707T>C|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6544,0.4928,0.5109,,,,,,,,,,,,,,,,,,,
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Leu3733Ile/c.11197C>A,Ctt/Att,MODERATE,COSM3838102(2),0.540535,0.4702,rs10931200,1(T),,-1.525(N),-0.9858(T),,chr2,186664963,186664963,C,A,het,missense_variant(MODERATE|MISSENSE|Ctt/Att|p.Leu3733Ile/c.11197C>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6544,0.4928,0.5099,,,,,0.124513(N),1.000(P),"0.97,0.97(T,T)",0.0000(T),0.096,0.160655,4.94,-6.95,-3.373000,-1.421000,-1.533000,0.001000,0.000000,0.000000,2.2103
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Gly3889Glu/c.11666G>A,gGa/gAa,MODERATE,,0.540535,0.4702,rs36004074,1(T),,0(N),-0.9176(T),,chr2,186665432,186665432,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly3889Glu/c.11666G>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6544,0.4928,0.5099,,,,,,1.000(P),"1.2,1.2(T,T)",0.0000(T),0.066,-2.675045,4.96,1.66,0.460000,0.152000,1.204000,0.022000,0.109000,0.115000,3.0417
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Asn4020Asp/c.12058A>G,Aac/Gac,MODERATE,,0.540535,0.4702,rs11695215,0.3(T),,0(N),-0.9407(T),,chr2,186665824,186665824,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn4020Asp/c.12058A>G|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6544,0.4928,0.5099,,,,,,1.000(P),"0.97,0.97(T,T)",0.0000(T),0.067,-0.216701,4.24,3.36,-0.368000,0.743000,0.788000,0.188000,0.963000,1.000000,6.8496
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Phe4452Ser/c.13355T>C,tTt/tCt,MODERATE,,0.540535,0.4702,rs7605884,0.62(T),,0.345(N),-0.9597(T),,chr2,186667121,186667121,T,C,het,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe4452Ser/c.13355T>C|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6544,0.4928,0.5099,,,,,,1.000(P),"0.96,0.96(T,T)",0.0000(T),0.071,2.013517,5.2,5.2,-0.368000,1.438000,0.925000,0.058000,0.002000,0.001000,9.8428
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Met5057Val/c.15169A>G,Atg/Gtg,MODERATE,,0.325679,0.4077,rs13003744,1(T),,-0.345(N),-0.9259(T),,chr2,186668935,186668935,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met5057Val/c.15169A>G|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.2863,0.3559,0.3658,,,,,,1.000(P),"1.17,1.17(T,T)",0.0000(T),0.03,-3.165623,5.78,1.24,-0.472000,0.296000,0.032000,0.081000,0.027000,0.002000,7.2171
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Glu5446Asp/c.16338A>C,gaA/gaC,MODERATE,,0.95607,0.9425,rs7576532,1(T),,-0.895(N),-0.9827(T),,chr2,186670104,186670104,A,C,hom,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu5446Asp/c.16338A>C|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.9959,0.9179,0.9891,0.98,0.94,1.00,,,1.000(P),"1.44,1.45(T,T)",0.0000(T),0.027,-3.285130,5.28,2.78,-2.083000,0.465000,0.055000,0.325000,1.000000,0.990000,4.3943
synonymous_variant,FSIP2,SILENT,NM_173651.2:p.Val5603Val/c.16809G>C,gtG/gtC,LOW,,0.000998403,0,rs184298485,,,,,,chr2,186670575,186670575,G,C,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val5603Val/c.16809G>C|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0,0,0.004,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Tyr5672Asn/c.17014T>A,Tac/Aac,MODERATE,COSM1403874(1),0.504393,0.4702,rs16827154,0.27(T),,0.55(N),-0.9114(T),,chr2,186670780,186670780,T,A,het,missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr5672Asn/c.17014T>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6483,0.4755,0.508,0.51,0.47,0.53,,,1.000(P),"0.64,0.64(T,T)",0.0000(T),0.108,1.328093,4.87,-2.02,-0.202000,-0.281000,-1.678000,0.002000,0.000000,0.000000,5.5017
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Ile5738Thr/c.17213T>C,aTt/aCt,MODERATE,,0.865815,0.878,rs4666689,0.65(T),,-0.805(N),-0.9911(T),,chr2,186670979,186670979,T,C,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile5738Thr/c.17213T>C|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.9397,0.8487,0.8757,0.86,0.81,0.89,,,1.000(P),"1.01,1.01(T,T)",0.0000(T),0.006,0.032483,4.76,-3.53,-1.085000,-0.800000,-1.929000,0.000000,0.000000,0.000000,0.8116
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Arg5864Gln/c.17591G>A,cGa/cAa,MODERATE,COSM4133326(1),0.539337,0.4702,rs17826534,0.38(T),,0(N),-0.9359(T),,chr2,186671357,186671357,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg5864Gln/c.17591G>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6483,0.4928,0.5099,0.54,0.56,0.53,,,1.000(P),"0.95,0.96(T,T)",0.0000(T),0.04,-1.026172,4.85,3.07,-0.203000,0.651000,0.408000,0.002000,0.002000,0.001000,6.5117
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Arg6049His/c.18146G>A,cGt/cAt,MODERATE,COSM4133327(1),0.540535,0.4702,rs1862066,1(T),,-1.1(N),-0.9094(T),,chr2,186671912,186671912,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg6049His/c.18146G>A|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.6544,0.4928,0.5099,0.54,0.57,0.53,,0.001825(N),1.000(P),"1.13,1.14(T,T)",0.0000(T),0.043,-1.549129,4.8,3.65,-0.490000,0.343000,1.351000,0.499000,0.573000,0.775000,6.2369
synonymous_variant,FSIP2,SILENT,NM_173651.2:p.Leu6377Leu/c.19131A>G,ttA/ttG,LOW,,0.326877,0.4077,rs4666690,,,,,,chr2,186672897,186672897,A,G,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu6377Leu/c.19131A>G|6996|FSIP2|protein_coding|CODING|NM_173651.2|17|1),,,,,0.2935,0.3559,0.3658,0.32,0.24,0.35,,,,,,,,,,,,,,,,
missense_variant,FSIP2,MISSENSE,NM_173651.2:p.Thr6972Ala/c.20914A>G,Act/Gct,MODERATE,,0.957069,0.9425,rs1468999,1(T),,-0.625(N),-0.9726(T),,chr2,186697876,186697876,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr6972Ala/c.20914A>G|6996|FSIP2|protein_coding|CODING|NM_173651.2|23|1),,,,,0.9959,0.9207,0.9891,0.98,0.94,1.00,,0.739621(N),1.000(P),"0.99,0.99(T,T)",0.0000(T),0.021,-1.679361,4.72,3.3,-0.186000,0.299000,1.084000,0.007000,0.860000,0.991000,6.1246
missense_variant,ITGAV,MISSENSE,NM_002210.4:p.Val783Ile/c.2347G>A,Gtc/Atc,MODERATE,,0.992212,1,rs2230616,0.78(T),"0.01,0.017,0.017(B,B,B)",0.515(N),-0.9483(T),,chr2,187532417,187532417,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val737Ile/c.2209G>A|1002|ITGAV|protein_coding|CODING|NM_001144999.2|24|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val747Ile/c.2239G>A|1012|ITGAV|protein_coding|CODING|NM_001145000.2|22|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val783Ile/c.2347G>A|1048|ITGAV|protein_coding|CODING|NM_002210.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,0.001721(N),0.969(P),"0.62,0.62,0.62(T,T,T)",0.0000(T),0.145,1.464145,5.74,3.39,-0.269000,0.454000,2.739000,0.991000,1.000000,1.000000,8.678
synonymous_variant,FAM171B,SILENT,NM_177454.3:p.Leu20Leu/c.60G>A,ctG/ctA,LOW,COSM3757837(2),0.288738,0.7153,rs2276562,,,,,,chr2,187558960,187558960,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu20Leu/c.60G>A|826|FAM171B|protein_coding|CODING|NM_177454.3|1|1),"H1ESC:PolII,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HMEC:CTCF,HUVEC:H3K4me2,K562:H3K27me3,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.182,0.2939,0.2624,0.17,0.08,0.21,,,,,,,,,,,,,,,,
synonymous_variant,FAM171B,SILENT,NM_177454.3:p.Glu756Glu/c.2268G>A,gaG/gaA,LOW,,0.0101837,0,rs17855087,,,,,,chr2,187627337,187627337,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu756Glu/c.2268G>A|826|FAM171B|protein_coding|CODING|NM_177454.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0187,0.0338,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,ZSWIM2,SILENT,NM_182521.2:p.Thr250Thr/c.750C>T,acC/acT,LOW,,0.196286,0.1131,rs7559533,,,,,,chr2,187698751,187698751,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr250Thr/c.750C>T|633|ZSWIM2|protein_coding|CODING|NM_182521.2|6|1),,,,,0.3037,0.2464,0.2704,0.24,0.12,0.29,,,,,,,,,,,,,,,,
missense_variant,CALCRL,MISSENSE,NM_001271751.1:p.Asn8Tyr/c.22A>T,Aat/Tat,MODERATE,,0.999401,1,rs698577,1(T),0.0(B),-0.345(N),-0.9453(T),,chr2,188250301,188250301,T,A,hom,"missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn8Tyr/c.22A>T|461|CALCRL|protein_coding|CODING|NM_001271751.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn8Tyr/c.22A>T|461|CALCRL|protein_coding|CODING|NM_005795.5|4|1)",HUVEC:H3K36me3,,,,1,1,1,1.00,1.00,1.00,,0.792071(N),1.000(P),"1.01,1.01,1.01,1.56,1.47(T,T,T,T,T)",0.0000(T),0.281,-2.490427,5.81,-1.99,-1.185000,-0.413000,0.016000,0.000000,0.025000,0.000000,0.7076
missense_variant,TFPI,MISSENSE,NM_006287.4:p.Val292Met/c.874G>A,Gtg/Atg,MODERATE,,0.00838658,0,rs5940,0.07(T),0.142(B),1.645(L),-1.0461(T),,chr2,188331704,188331704,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val292Met/c.874G>A|304|TFPI|protein_coding|CODING|NM_006287.4|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0072,0.0159,0.0239,0.02,0.00,0.02,,0.100191(N),0.783(N),"0.29,0.29(T,T)",0.0462(T),0.077,-0.014349,4.89,2.05,-0.140000,0.582000,0.457000,0.005000,0.085000,0.003000,7.5095
synonymous_variant,COL3A1,SILENT,NM_000090.3:p.Gln617Gln/c.1851G>A,caG/caA,LOW,,0.128994,0,rs386611622,,,,,,chr2,189862097,189862097,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln617Gln/c.1851G>A|1466|COL3A1|protein_coding|CODING|NM_000090.3|26|1),downstream_gene_variant(MODIFIER||1679|||MIR3606||NON_CODING|NR_037401.1||1)","HSMM:H3K36me3,IMR90:H3K36me3",,,,0.1288,0.0793,0.16,0.16,0.20,0.15,,,,,,,,,,,,,,,,
missense_variant,COL3A1,MISSENSE,NM_000090.3:p.Ala698Thr/c.2092G>A,Gct/Act,MODERATE,COSM3757851(2),0.21845,0.2331,rs1800255,0.3(T),0.0(B),0.395(N),-1.0574(T),,chr2,189864080,189864080,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala698Thr/c.2092G>A|1466|COL3A1|protein_coding|CODING|NM_000090.3|30|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac",,RCV000018745.1|RCV000124409.1,,0.2873,0.2522,0.2624,0.21,0.13,0.25,,0.017354(N),0.708(P),"-3.23,-3.22(D,D)",0.0002(T),0.158,2.666284,4.96,0.873,0.650000,0.246000,0.487000,0.998000,0.979000,0.046000,1.7367
synonymous_variant,COL3A1,SILENT,NM_000090.3:p.Gly748Gly/c.2244T>C,ggT/ggC,LOW,COSM4133339(1),0.212061,0.0685,rs1801184,,,,,,chr2,189864582,189864582,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly748Gly/c.2244T>C|1466|COL3A1|protein_coding|CODING|NM_000090.3|32|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac",,,,0.1687,0.2334,0.2922,0.29,0.28,0.29,,,,,,,,,,,,,,,,
missense_variant,COL3A1,MISSENSE,NM_000090.3:p.His1353Gln/c.4059T>G,caT/caG,MODERATE,,0.996605,1,rs1516446,1(T),0.0(B),-3.87(N),-0.9497(T),,chr2,189875421,189875421,T,G,hom,missense_variant(MODERATE|MISSENSE|caT/caG|p.His1353Gln/c.4059T>G|1466|COL3A1|protein_coding|CODING|NM_000090.3|50|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,1,0.9986,1,0.99,0.99,1.00,,0.000170(N),0.982(P),"0.36,0.36(T,T)",0.0000(T),0.412,-0.695287,5.29,1.42,-0.729000,0.003000,1.661000,0.531000,0.970000,0.974000,6.1286
synonymous_variant,COL5A2,SILENT,NM_000393.3:p.Gly1137Gly/c.3411T>C,ggT/ggC,LOW,COSM4001449(1),0.940895,0.9127,rs6434312,,,,,,chr2,189907937,189907937,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1137Gly/c.3411T>C|1499|COL5A2|protein_coding|CODING|NM_000393.3|48|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.9785,0.8746,0.9761,0.97,0.95,0.98,,,,,,,,,,,,,,,,
missense_variant,COL5A2,MISSENSE,NM_000393.3:p.Pro460Ser/c.1378C>T,Cct/Tct,MODERATE,,0.0115815,0.001,rs35830636,,0.01(B),1.375(L),0.0554(D),,chr2,189932764,189932764,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro460Ser/c.1378C>T|1499|COL5A2|protein_coding|CODING|NM_000393.3|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.0072,0.0245,0.0308,0.04,0.01,0.05,,0.018475(N),0.990(D),-4.48(D),0.4551(T),0.082,3.086016,5.74,5.74,0.591000,2.716000,6.297000,0.996000,1.000000,1.000000,15.4173
synonymous_variant,COL5A2,SILENT,NM_000393.3:p.Pro437Pro/c.1311A>G,ccA/ccG,LOW,,0.942891,0.9653,rs2229495,,,,,,chr2,189932831,189932831,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro437Pro/c.1311A>G|1499|COL5A2|protein_coding|CODING|NM_000393.3|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.9785,0.8732,0.9801,0.96,0.92,0.98,,,,,,,,,,,,,,,,
synonymous_variant,COL5A2,SILENT,NM_000393.3:p.Thr105Thr/c.315C>A,acC/acA,LOW,,0.888578,0.8958,rs4128539,,,,,,chr2,189974958,189974958,G,T,hom,synonymous_variant(LOW|SILENT|acC/acA|p.Thr105Thr/c.315C>A|1499|COL5A2|protein_coding|CODING|NM_000393.3|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,HepG2:CTCF,GM12878:DNase1",,,,0.8875,0.8242,0.9771,0.94,0.86,0.98,,,,,,,,,,,,,,,,
synonymous_variant,WDR75,SILENT,NM_032168.1:p.Thr207Thr/c.621A>G,acA/acG,LOW,,0.525559,0.6706,rs1157910,,,,,,chr2,190323530,190323530,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr207Thr/c.621A>G|830|WDR75|protein_coding|CODING|NM_032168.1|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5838,0.5375,0.6551,0.56,0.32,0.68,,,,,,,,,,,,,,,,
synonymous_variant,SLC40A1,SILENT,NM_014585.5:p.Val221Val/c.663T>C,gtT/gtC,LOW,,0.55012,0.8075,rs2304704,,,,,,chr2,190430177,190430177,A,G,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val221Val/c.663T>C|571|SLC40A1|protein_coding|CODING|NM_014585.5|6|1),"HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6708,0.6772,0.6054,0.50,0.23,0.64,,,,,,,,,,,,,,,,
missense_variant,ASNSD1,MISSENSE,NM_019048.2:p.Gly190Arg/c.568G>A,Gga/Aga,MODERATE,,0.983027,0.998,rs1437880,0.56(T),0.0(B),0.115(N),-1.0127(T),,chr2,190531426,190531426,G,A,hom,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly190Arg/c.568G>A|643|ASNSD1|protein_coding|CODING|NM_019048.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.999,0.98,0.95,1.00,,0.185306(N),1.000(P),"1.54,1.54(T,T)",0.0000(T),0.521,-2.153027,6.07,1.09,-0.254000,-0.050000,1.750000,0.013000,0.008000,0.406000,6.5065
missense_variant,ANKAR,MISSENSE,NM_144708.3:p.Leu1077Phe/c.3231G>T,ttG/ttT,MODERATE,,0.983427,1,rs1225090,0.71(T),0.001(B),-0.345(N),-1.0240(T),,chr2,190595258,190595258,G,T,hom,missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu1077Phe/c.3231G>T|1434|ANKAR|protein_coding|CODING|NM_144708.3|16|1),,,,,1,0.9942,1,0.98,0.94,1.00,,0.578302(N),1.000(P),"2.25,2.25,2.25(T,T,T)",0.0000(T),0.024,-2.394453,4.12,-1.14,-1.310000,-0.624000,-1.304000,0.043000,0.000000,0.000000,1.8267
synonymous_variant,ANKAR,SILENT,NM_144708.3:p.Phe1176Phe/c.3528T>C,ttT/ttC,LOW,,0.983027,0.998,rs1225099,,,,,,chr2,190602513,190602513,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1176Phe/c.3528T>C|1434|ANKAR|protein_coding|CODING|NM_144708.3|18|1),,,,,1,0.9942,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,OSGEPL1,SILENT,NM_022353.2:p.Asn342Asn/c.1026T>C,aaT/aaC,LOW,,0.970248,1,rs2243876,,,,,,chr2,190617643,190617643,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn342Asn/c.1026T>C|414|OSGEPL1|protein_coding|CODING|NM_022353.2|6|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.90,1.00,,,,,,,,,,,,,,,,
missense_variant,HIBCH,MISSENSE,NM_014362.3:p.Thr46Ala/c.136A>G,Acg/Gcg,MODERATE,,0.684305,0.5724,rs1058180,0.88(T),"0.0,0.0(B,B)",-1.01(N),-0.9662(T),,chr2,191161622,191161622,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr46Ala/c.136A>G|386|HIBCH|protein_coding|CODING|NM_014362.3|3|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr46Ala/c.136A>G|338|HIBCH|protein_coding|CODING|NM_198047.2|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7495,0.7493,0.7555,0.72,0.66,0.76,,0.000001(N),0.000(P),"-0.58,-0.58,1.01(T,T,T)",0.0000(T),0.238,0.279732,5.33,5.33,-0.119000,1.274000,2.982000,0.611000,0.997000,1.000000,12.0375
synonymous_variant,INPP1,SILENT,NM_001128928.1:p.Glu101Glu/c.303G>A,gaG/gaA,LOW,,0.691693,0.7579,rs11544940,,,,,,chr2,191231458,191231458,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu101Glu/c.303G>A|399|INPP1|protein_coding|CODING|NM_001128928.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu101Glu/c.303G>A|399|INPP1|protein_coding|CODING|NM_002194.3|4|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5,0.7968,0.5775,0.65,0.78,0.58,,,,,,,,,,,,,,,,
synonymous_variant,INPP1,SILENT,NM_001128928.1:p.Arg325Arg/c.973A>C,Agg/Cgg,LOW,,0.878195,0.9097,rs1882891,,,,,,chr2,191235901,191235901,A,C,hom,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg325Arg/c.973A>C|399|INPP1|protein_coding|CODING|NM_001128928.1|7|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg325Arg/c.973A>C|399|INPP1|protein_coding|CODING|NM_002194.3|6|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9264,0.9222,0.8658,0.85,0.82,0.86,,,,,,,,,,,,,,,,
missense_variant,MFSD6,MISSENSE,NM_017694.3:p.Arg205Gly/c.613A>G,Agg/Ggg,MODERATE,,0.492412,0.6181,rs386624005,0.58(T),0.0(B),-0.895(N),-0.9530(T),,chr2,191301368,191301368,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg205Gly/c.613A>G|791|MFSD6|protein_coding|CODING|NM_017694.3|3|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3906,0.6427,0.4483,0.44,0.44,0.44,,0.647079(N),0.876(P),"1.55,1.55(T,T)",0.0000(T),0.019,-0.972835,5.25,5.25,-0.176000,1.468000,1.232000,0.010000,0.002000,0.002000,13.3583
synonymous_variant,TMEM194B,SILENT,NM_001142645.1:p.Ala288Ala/c.864C>T,gcC/gcT,LOW,COSM4001451(1),0.532548,0.5833,rs4586658,,,,,,chr2,191379268,191379268,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala288Ala/c.864C>T|417|TMEM194B|protein_coding|CODING|NM_001142645.1|7|1),"HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.59,0.696,0.5765,0.50,0.34,0.57,,,,,,,,,,,,,,,,
missense_variant,TMEM194B,MISSENSE,NM_001142645.1:p.Gly2Arg/c.4G>C,Ggg/Cgg,MODERATE,COSM4133342(2),0.142772,0.1389,rs13412879,0.92(T),0.0(B),0(N),-1.0604(T),,chr2,191399378,191399378,C,G,hom,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly2Arg/c.4G>C|417|TMEM194B|protein_coding|CODING|NM_001142645.1|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,GM12878:ZEB1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:TAF1,HepG2:HNF4A,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6",,,,0.1401,0.0994,0.1998,,,,,0.537665(N),1.000(P),1.0(T),0.0000(T),0.205,-2.115233,3.19,0.247,-3.777000,-0.400000,-1.034000,0.005000,0.416000,0.000000,3.8823
synonymous_variant,MYO1B,SILENT,NM_001130158.1:p.Tyr58Tyr/c.174C>T,taC/taT,LOW,,0.509385,0.6567,rs4853575,,,,,,chr2,192160875,192160875,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr58Tyr/c.174C>T|1136|MYO1B|protein_coding|CODING|NM_001130158.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr58Tyr/c.174C>T|1136|MYO1B|protein_coding|CODING|NM_001161819.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr58Tyr/c.174C>T|1078|MYO1B|protein_coding|CODING|NM_012223.3|3|1)","NH-A:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4663,0.5865,0.5835,0.51,0.37,0.58,,,,,,,,,,,,,,,,
synonymous_variant,MYO1B,SILENT,NM_001130158.1:p.Glu490Glu/c.1470G>A,gaG/gaA,LOW,,0.779952,0.9405,rs13018796,,,,,,chr2,192250726,192250726,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu490Glu/c.1470G>A|1136|MYO1B|protein_coding|CODING|NM_001130158.1|16|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu490Glu/c.1470G>A|1136|MYO1B|protein_coding|CODING|NM_001161819.1|16|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu490Glu/c.1470G>A|1078|MYO1B|protein_coding|CODING|NM_012223.3|16|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H2BK12ac,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K4ac,IMR90:H3K36me3,HUVEC:H3K4me2,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,IMR90:H3K18ac,HUVEC:H3K27ac",,,,0.9407,0.8429,0.9642,0.80,0.46,0.97,,,,,,,,,,,,,,,,
missense_variant,MYO1B,MISSENSE,NM_001130158.1:p.Lys838Glu/c.2512A>G,Aag/Gag,MODERATE,,0.000199681,0,rs138223215,0.36(T),"0.258,0.931(B,D)",0(N),0.0544(D),,chr2,192267400,192267400,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys838Glu/c.2512A>G|1136|MYO1B|protein_coding|CODING|NM_001130158.1|24|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys838Glu/c.2512A>G|1136|MYO1B|protein_coding|CODING|NM_001161819.1|24|1),intron_variant(MODIFIER|||c.2382+2206A>G|1078|MYO1B|protein_coding|CODING|NM_012223.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.000000(D),1.000(D),"-2.22,-2.22,-0.59,-0.59(D,D,T,T)",0.5578(D),0.833,2.705663,5.72,5.72,0.459000,2.180000,8.572000,0.998000,1.000000,1.000000,14.5673
synonymous_variant,MYO1B,SILENT,NM_001130158.1:p.Leu1031Leu/c.3091T>C,Ttg/Ctg,LOW,,0.749601,0.9395,rs2271767,,,,-1.0200(T),,chr2,192279327,192279327,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1031Leu/c.3091T>C|1136|MYO1B|protein_coding|CODING|NM_001130158.1|29|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1031Leu/c.3091T>C|1136|MYO1B|protein_coding|CODING|NM_001161819.1|29|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu973Leu/c.2917T>C|1078|MYO1B|protein_coding|CODING|NM_012223.3|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9376,0.8372,0.9632,0.77,0.37,0.97,,,0.000(P),,0.0000(T),.,1.036084,5.16,0.961,0.482000,0.052000,1.612000,0.991000,0.462000,0.851000,7.5235
synonymous_variant,SDPR,SILENT,NM_004657.5:p.Gly178Gly/c.534T>C,ggT/ggC,LOW,,0.633786,0.7609,rs10167187,,,,,,chr2,192701393,192701393,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly178Gly/c.534T>C|425|SDPR|protein_coding|CODING|NM_004657.5|2|1),"K562:H3K4me3,K562:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K9ac,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K4me2,K562:DNase1",,,,0.6984,0.6686,0.5795,0.56,0.51,0.58,,,,,,,,,,,,,,,,
missense_variant,DNAH7,MISSENSE,NM_018897.2:p.Leu3319Pro/c.9956T>C,cTt/cCt,MODERATE,,0.961262,1,rs13411834,1(T),0.0(B),-3.95(N),-0.8271(T),,chr2,196673533,196673533,A,G,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu3319Pro/c.9956T>C|4024|DNAH7|protein_coding|CODING|NM_018897.2|53|1),,,,,1,0.987,1,0.96,0.88,1.00,,0.802843(N),0.000(P),-2.19(D),0.0000(T),0.074,0.675962,5.06,5.06,-0.213000,1.370000,7.026000,0.982000,1.000000,1.000000,13.5149
synonymous_variant,DNAH7,SILENT,NM_018897.2:p.Ala1162Ala/c.3486A>C,gcA/gcC,LOW,,0.480032,0.5635,rs1489802,,,,,,chr2,196791276,196791276,T,G,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala1162Ala/c.3486A>C|4024|DNAH7|protein_coding|CODING|NM_018897.2|22|1),,,,,0.6769,0.5764,0.6471,0.49,0.18,0.62,,,,,,,,,,,,,,,,
missense_variant,DNAH7,MISSENSE,NM_018897.2:p.Ile1020Thr/c.3059T>C,aTa/aCa,MODERATE,,0.0477236,0.001,rs62623378,0.16(T),0.016(B),1.165(L),-1.0429(T),,chr2,196822004,196822004,A,G,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile1020Thr/c.3059T>C|4024|DNAH7|protein_coding|CODING|NM_018897.2|19|1),HUVEC:H3K27me3,,,,0.0685,0.0778,0.1074,0.09,0.02,0.12,,0.096913(N),0.000(P),-0.08(T),0.0033(T),0.418,0.879782,5.57,4.41,0.533000,1.044000,2.482000,0.485000,0.939000,0.507000,11.7773
missense_variant,DNAH7,MISSENSE,NM_018897.2:p.Arg545Cys/c.1633C>T,Cgt/Tgt,MODERATE,COSM4133349(1),0.540735,0.6359,rs10931715,0.18(T),0.007(B),2.32(M),-0.9915(T),,chr2,196851911,196851911,G,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg545Cys/c.1633C>T|4024|DNAH7|protein_coding|CODING|NM_018897.2|14|1),,,,,0.7566,0.6326,0.664,0.53,0.26,0.64,,0.000000(D),0.000(P),1.92(T),0.0000(T),0.298,2.125790,5.75,4.86,0.563000,1.398000,3.997000,0.949000,0.809000,1.000000,9.7376
synonymous_variant,DNAH7,SILENT,NM_018897.2:p.Thr384Thr/c.1152G>A,acG/acA,LOW,,0.653754,0.6498,rs6434811,,,,,,chr2,196866420,196866420,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr384Thr/c.1152G>A|4024|DNAH7|protein_coding|CODING|NM_018897.2|11|1),,,,,0.9366,0.7867,0.9046,0.73,0.34,0.91,,,,,,,,,,,,,,,,
missense_variant,DNAH7,MISSENSE,NM_018897.2:p.Met380Arg/c.1139T>G,aTg/aGg,MODERATE,,0.00459265,0,rs144390858,0(D),0.332(B),1.78(L),-1.1151(T),,chr2,196866433,196866433,A,C,het,missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met380Arg/c.1139T>G|4024|DNAH7|protein_coding|CODING|NM_018897.2|11|1),,,,,0.0051,0.0101,0.0099,0.01,0.00,0.01,,0.000000(D),1.000(D),"1.94,2.79(T,T)",0.0444(T),0.563,4.074479,5.67,5.67,0.533000,2.154000,8.139000,0.898000,1.000000,1.000000,15.5756
synonymous_variant,HECW2,SILENT,NM_020760.1:p.Ser1148Ser/c.3444G>A,tcG/tcA,LOW,,0.972244,1,rs4850690,,,,,,chr2,197118729,197118729,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1148Ser/c.3444G>A|1572|HECW2|protein_coding|CODING|NM_020760.1|19|1),"HUVEC:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HECW2,SILENT,NM_020760.1:p.Pro431Pro/c.1293G>A,ccG/ccA,LOW,COSM4133353(1),0.727436,0.9653,rs1531111,,,,,,chr2,197184321,197184321,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro431Pro/c.1293G>A|1572|HECW2|protein_coding|CODING|NM_020760.1|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.773,0.8199,0.831,0.69,0.46,0.81,,,,,,,,,,,,,,,,
synonymous_variant,SF3B1,SILENT,NM_012433.2:p.Val1219Val/c.3657A>G,gtA/gtG,LOW,COSM3757859(2),0.71845,0.5218,rs4685,,,,-1.0513(T),,chr2,198257795,198257795,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1219Val/c.3657A>G|1304|SF3B1|protein_coding|CODING|NM_012433.2|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7526,0.6311,0.7256,0.74,0.83,0.69,,,0.000(P),,0.0000(T),.,0.965705,5.39,3.21,-0.320000,0.660000,0.206000,0.986000,1.000000,0.983000,9.175
synonymous_variant,SF3B1,SILENT,NM_012433.2:p.Gly877Gly/c.2631T>C,ggT/ggC,LOW,COSM3757860(2),0.716653,0.5099,rs788018,,,,,,chr2,198265526,198265526,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly877Gly/c.2631T>C|1304|SF3B1|protein_coding|CODING|NM_012433.2|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7556,0.6326,0.7276,0.74,0.83,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SF3B1,SILENT,NM_012433.2:p.Lys141Lys/c.423A>G,aaA/aaG,LOW,COSM1129389(3),0.720647,0.5179,rs788023,,,,,,chr2,198283305,198283305,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys141Lys/c.423A>G|1304|SF3B1|protein_coding|CODING|NM_012433.2|5|1),downstream_gene_variant(MODIFIER||216||144|SF3B1|protein_coding|CODING|NM_001005526.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7556,0.6326,0.7276,0.74,0.85,0.68,,,,,,,,,,,,,,,,
synonymous_variant,COQ10B,SILENT,NM_025147.3:p.Lys102Lys/c.306G>A,aaG/aaA,LOW,,0.145767,0.2282,rs3754822,,,,,,chr2,198327314,198327314,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys102Lys/c.306G>A|238|COQ10B|protein_coding|CODING|NM_025147.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0951,0.1729,0.2157,0.16,0.09,0.20,,,,,,,,,,,,,,,,
synonymous_variant,HSPD1,SILENT,NM_002156.4:p.Lys91Lys/c.273A>G,aaA/aaG,LOW,COSM3757861(2),0.654553,0.4722,rs8539,,,,,,chr2,198362018,198362018,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|573|HSPD1|protein_coding|CODING|NM_002156.4|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|573|HSPD1|protein_coding|CODING|NM_199440.1|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H4K20me1,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1",,RCV000117240.2|RCV000125392.1,,0.6667,0.6225,0.7256,0.70,0.72,0.68,,,,,,,,,,,,,,,,
synonymous_variant,HSPD1,SILENT,NM_002156.4:p.Thr23Thr/c.69T>C,acT/acC,LOW,,0.158147,0.2282,rs1050347,,,,,,chr2,198363504,198363504,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr23Thr/c.69T>C|573|HSPD1|protein_coding|CODING|NM_002156.4|2|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr23Thr/c.69T>C|573|HSPD1|protein_coding|CODING|NM_199440.1|2|1),upstream_gene_variant(MODIFIER||1217||261|HSPE1-MOB4|protein_coding|CODING|NM_001202485.1||1),upstream_gene_variant(MODIFIER||1217||102|HSPE1|protein_coding|CODING|NM_002157.2||1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,RCV000117242.2|RCV000125390.1,,0.0941,0.1744,0.2117,0.16,0.11,0.19,,,,,,,,,,,,,,,,
synonymous_variant,RFTN2,SILENT,NM_144629.2:p.Leu123Leu/c.369C>T,ctC/ctT,LOW,COSM3757865(2),0.680711,0.4603,rs10497806,,,,,,chr2,198508951,198508951,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu123Leu/c.369C>T|501|RFTN2|protein_coding|CODING|NM_144629.2|3|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.6421,0.6167,0.7376,0.74,0.83,0.69,,,,,,,,,,,,,,,,
missense_variant,PLCL1,MISSENSE,NM_006226.3:p.Gln368Arg/c.1103A>G,cAa/cGa,MODERATE,,0.00738818,0,rs113185553,,"0.007,0.007(B,B)",0.35(N),-1.0047(T),,chr2,198949344,198949344,A,G,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln368Arg/c.1103A>G|1095|PLCL1|protein_coding|CODING|NM_006226.3|2|1),"GM12878:H3K27me3,K562:H3K36me3,HepG2:H3K27me3",,,,0.002,0.0072,0.0278,0.02,0.01,0.03,,0.004476(N),1.000(N),"2.33,2.33(T,T)",0.0072(T),0.091,0.975657,5.94,3.45,0.459000,2.279000,3.585000,0.890000,0.921000,0.990000,4.8965
missense_variant,PLCL1,MISSENSE,NM_006226.3:p.Val667Ile/c.1999G>A,Gta/Ata,MODERATE,COSM3736233(3),0.379393,0.2133,rs1064213,,0.995(D),2.865(M),-0.9276(T),,chr2,198950240,198950240,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val667Ile/c.1999G>A|1095|PLCL1|protein_coding|CODING|NM_006226.3|2|1),K562:H3K36me3,,,,0.5716,0.402,0.5239,0.43,0.30,0.49,,0.001012(N),0.000(P),"-0.02,-0.02(T,T)",0.0000(T),0.304,3.953478,5.36,5.36,0.561000,2.793000,9.643000,0.974000,1.000000,1.000000,19.2914
missense_variant,C2orf69,MISSENSE,NM_153689.5:p.Asp64Glu/c.192T>G,gaT/gaG,MODERATE,COSM3749627(3),0.0878594,0,rs62178345,0.39(T),0.019(B),0.665(N),-1.0570(T),,chr2,200776353,200776353,T,G,het,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp64Glu/c.192T>G|385|C2orf69|protein_coding|CODING|NM_153689.5|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,GM12878:EBF,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:H2AZ",,,,0.0695,0.1167,0.175,,,,,0.001678(N),0.422(P),,0.0003(T),0.08,1.996666,4.91,-3.14,-1.013000,-0.558000,-0.302000,0.447000,0.964000,0.976000,6.859
missense_variant,SPATS2L,MISSENSE,NM_001282744.1:p.Thr27Ala/c.79A>G,Act/Gct,MODERATE,COSM149038(2),0.234225,0.1468,rs842823,0.08(T),0.01(B),,-0.9906(T),,chr2,201253956,201253956,A,G,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr27Ala/c.79A>G|588|SPATS2L|protein_coding|CODING|NM_001282744.1|3|1),5_prime_UTR_variant(MODIFIER||12|c.-12A>G|558|SPATS2L|protein_coding|CODING|NM_001100422.1|3|1),5_prime_UTR_variant(MODIFIER||12|c.-12A>G|558|SPATS2L|protein_coding|CODING|NM_001100423.1|3|1),5_prime_UTR_variant(MODIFIER||12|c.-12A>G|489|SPATS2L|protein_coding|CODING|NM_001100424.1|3|1),5_prime_UTR_variant(MODIFIER||12|c.-12A>G|558|SPATS2L|protein_coding|CODING|NM_001282735.1|3|1),5_prime_UTR_variant(MODIFIER||12|c.-12A>G|558|SPATS2L|protein_coding|CODING|NM_015535.2|3|1),intron_variant(MODIFIER|||c.-141-23078A>G|498|SPATS2L|protein_coding|CODING|NM_001282743.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3446,0.1902,0.3141,0.28,0.19,0.32,,,0.000(P),,0.0000(T),0.178,2.002068,5.25,-0.499,0.533000,-0.128000,0.095000,0.697000,0.979000,0.174000,7.6641
missense_variant,KCTD18,MISSENSE,NM_152387.2:p.Cys390Ser/c.1169G>C,tGc/tCc,MODERATE,COSM4001460(1),0.325879,0.4365,rs3795969,1(T),0.0(B),-0.895(N),-0.9068(T),,chr2,201354935,201354935,C,G,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys390Ser/c.1169G>C|426|KCTD18|protein_coding|CODING|NM_152387.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2904,0.3905,0.3688,0.34,0.22,0.40,,0.007216(N),1.000(P),"1.69,1.69(T,T)",0.0000(T),0.017,-0.994369,4.88,3.09,-0.769000,0.282000,2.289000,0.000000,0.000000,0.250000,6.067
synonymous_variant,SGOL2,SILENT,NM_152524.5:p.Lys715Lys/c.2145A>G,aaA/aaG,LOW,COSM149040(1),0.123802,0.0794,rs17532679,,,,,,chr2,201437214,201437214,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys715Lys/c.2145A>G|1260|SGOL2|protein_coding|CODING|NM_001160033.1|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys715Lys/c.2145A>G|1261|SGOL2|protein_coding|CODING|NM_001160046.1|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys715Lys/c.2145A>G|1265|SGOL2|protein_coding|CODING|NM_152524.5|7|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1483,0.1138,0.2207,0.17,0.10,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SGOL2,SILENT,NM_152524.5:p.Pro755Pro/c.2265T>C,ccT/ccC,LOW,,0.726038,0.8135,rs12052989,,,,,,chr2,201437334,201437334,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro755Pro/c.2265T>C|1260|SGOL2|protein_coding|CODING|NM_001160033.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro755Pro/c.2265T>C|1261|SGOL2|protein_coding|CODING|NM_001160046.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro755Pro/c.2265T>C|1265|SGOL2|protein_coding|CODING|NM_152524.5|7|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6391,0.6614,0.7982,0.76,0.70,0.79,,,,,,,,,,,,,,,,
synonymous_variant,AOX1,SILENT,NM_001159.3:p.Val1040Val/c.3120C>T,gtC/gtT,LOW,,0.00199681,0,rs114924183,,,,,,chr2,201521609,201521609,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1040Val/c.3120C>T|1338|AOX1|protein_coding|CODING|NM_001159.3|27|1),HUVEC:H3K27me3,,,,0,0.0014,0.0089,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,AOX1,MISSENSE,NM_001159.3:p.Asn1135Ser/c.3404A>G,aAc/aGc,MODERATE,,0.109824,0.003,rs55754655,1(T),0.002(B),-1.21(N),-1.0184(T),,chr2,201526330,201526330,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn1135Ser/c.3404A>G|1338|AOX1|protein_coding|CODING|NM_001159.3|30|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3",,,,0.0215,0.072,0.1213,0.17,0.26,0.13,,0.000004(N),1.000(P),"1.31,1.31(T,T)",0.0000(T),0.108,0.456545,5.35,5.35,-0.119000,1.644000,3.173000,0.054000,0.251000,1.000000,14.7385
synonymous_variant,BZW1,SILENT,NM_001207068.1:p.Lys341Lys/c.1023A>G,aaA/aaG,LOW,,,,,,,,-0.4613(T),,chr2,201683585,201683585,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys309Lys/c.927A>G|419|BZW1|protein_coding|CODING|NM_001207067.1|9|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys341Lys/c.1023A>G|451|BZW1|protein_coding|CODING|NM_001207068.1|9|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys313Lys/c.939A>G|423|BZW1|protein_coding|CODING|NM_001207069.1|9|1),intron_variant(MODIFIER|||c.858+69A>G|353|BZW1|protein_coding|CODING|NM_014670.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),-1.52(D),0.4330(T),.,1.274093,5.56,0.0114,0.533000,0.126000,1.208000,0.999000,1.000000,1.000000,8.5963
synonymous_variant,CFLAR,SILENT,NM_001127183.2:p.Pro420Pro/c.1260A>G,ccA/ccG,LOW,,0.398762,0.2569,rs1594,,,,,,chr2,202025621,202025621,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro420Pro/c.1260A>G|480|CFLAR|protein_coding|CODING|NM_001127183.2|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro175Pro/c.525A>G|235|CFLAR|protein_coding|CODING|NM_001202515.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro385Pro/c.1155A>G|445|CFLAR|protein_coding|CODING|NM_001202516.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro324Pro/c.972A>G|384|CFLAR|protein_coding|CODING|NM_001202517.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro324Pro/c.972A>G|366|CFLAR|protein_coding|CODING|NM_001202518.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro324Pro/c.972A>G|366|CFLAR|protein_coding|CODING|NM_001202519.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro420Pro/c.1260A>G|480|CFLAR|protein_coding|CODING|NM_003879.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3415,0.4035,0.5109,0.50,0.47,0.51,,,,,,,,,,,,,,,,
missense_variant,CFLAR,MISSENSE,NM_001127183.2:p.Thr480Ile/c.1439C>T,aCa/aTa,MODERATE,,,,,0.01(D),"0.005,0.002(B,B)",0.55(N),-0.9089(T),,chr2,202028692,202028692,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr480Ile/c.1439C>T|480|CFLAR|protein_coding|CODING|NM_001127183.2|10|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr235Ile/c.704C>T|235|CFLAR|protein_coding|CODING|NM_001202515.1|6|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr445Ile/c.1334C>T|445|CFLAR|protein_coding|CODING|NM_001202516.1|8|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr384Ile/c.1151C>T|384|CFLAR|protein_coding|CODING|NM_001202517.1|9|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr480Ile/c.1439C>T|480|CFLAR|protein_coding|CODING|NM_003879.5|10|1),3_prime_UTR_variant(MODIFIER||889|c.*889C>T|366|CFLAR|protein_coding|CODING|NM_001202518.1|8|1),3_prime_UTR_variant(MODIFIER||889|c.*889C>T|366|CFLAR|protein_coding|CODING|NM_001202519.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.974814(N),1.000(N),"3.76,3.75,4.05,3.76(T,T,T,T)",0.0088(T),0.196,3.447132,4.96,-9.93,-0.397000,-2.078000,-0.393000,0.017000,0.000000,0.001000,9.7156
synonymous_variant,CASP10,SILENT,NM_032977.3:p.Ser59Ser/c.177A>G,tcA/tcG,LOW,COSM3764827(1),0.394169,0.2192,rs3900115,,,,,,chr2,202050677,202050677,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser59Ser/c.177A>G|455|CASP10|protein_coding|CODING|NM_001206524.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser59Ser/c.177A>G|478|CASP10|protein_coding|CODING|NM_001206542.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser59Ser/c.177A>G|479|CASP10|protein_coding|CODING|NM_001230.4|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser59Ser/c.177A>G|521|CASP10|protein_coding|CODING|NM_032974.4|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser59Ser/c.177A>G|273|CASP10|protein_coding|CODING|NM_032976.3|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser59Ser/c.177A>G|522|CASP10|protein_coding|CODING|NM_032977.3|2|1)","GM12878:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM12878:PU1,K562:SP1",,,,0.32,0.402,0.5119,0.51,0.49,0.52,,,,,,,,,,,,,,,,
missense_variant,CASP10,MISSENSE,NM_032977.3:p.Val410Ile/c.1228G>A,Gta/Ata,MODERATE,,0.0191693,0.001,rs13010627,0.35(T),"0.527,0.45,0.651,0.563,0.743(P,P,P,P,P)",1.485(L),-1.0748(T),,chr2,202074098,202074098,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val343Ile/c.1027G>A|455|CASP10|protein_coding|CODING|NM_001206524.1|7|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val367Ile/c.1099G>A|478|CASP10|protein_coding|CODING|NM_001206542.1|7|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val367Ile/c.1099G>A|479|CASP10|protein_coding|CODING|NM_001230.4|7|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val410Ile/c.1228G>A|521|CASP10|protein_coding|CODING|NM_032974.4|9|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val410Ile/c.1228G>A|522|CASP10|protein_coding|CODING|NM_032977.3|9|1),3_prime_UTR_variant(MODIFIER||1200|c.*314G>A|273|CASP10|protein_coding|CODING|NM_032976.3|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000020930.1,,0.0031,0.0389,0.0616,0.05,0.02,0.07,,0.439300(N),0.000(A),"1.97,1.97,1.97,1.97,1.97(T,T,T,T,T)",0.0074(T),0.06,1.805808,5.05,2.23,-0.813000,0.195000,1.441000,0.000000,0.000000,0.122000,7.8129
missense_variant,CASP10,MISSENSE,NM_032977.3:p.Leu522Ile/c.1564T>A,Tta/Ata,MODERATE,,0.329073,0.2073,rs13006529,0.29(T),"0.086,0.086,0.086(B,B,B)",,-0.9498(T),,chr2,202082459,202082459,T,A,het,"missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu455Ile/c.1363T>A|455|CASP10|protein_coding|CODING|NM_001206524.1|8|1),missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu479Ile/c.1435T>A|479|CASP10|protein_coding|CODING|NM_001230.4|8|1),missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu522Ile/c.1564T>A|522|CASP10|protein_coding|CODING|NM_032977.3|10|1),3_prime_UTR_variant(MODIFIER||9561|c.*650T>A|273|CASP10|protein_coding|CODING|NM_032976.3|9|1),intron_variant(MODIFIER|||c.1286+8174T>A|478|CASP10|protein_coding|CODING|NM_001206542.1|7|1),intron_variant(MODIFIER|||c.1415+8174T>A|521|CASP10|protein_coding|CODING|NM_032974.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2587,0.3876,0.4742,0.44,0.35,0.49,,0.034467(N),1.000(P),"4.43,4.38,4.08(T,T,T)",0.0000(T),0.043,1.914818,4.54,-1.39,-0.316000,-0.138000,0.247000,0.001000,0.000000,0.000000,1.0832
missense_variant,CASP8,MISSENSE,NM_001080125.1:p.Lys14Arg/c.41A>G,aAa/aGa,MODERATE,COSM4133375(1),0.646366,0.6964,rs3769823,0.97(T),0.015(B),,-0.9948(T),,chr2,202122995,202122995,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys14Arg/c.41A>G|538|CASP8|protein_coding|CODING|NM_001080125.1|1|1),intron_variant(MODIFIER|||c.-26-8189A>G|464|CASP8|protein_coding|CODING|NM_001080124.1|2|1),intron_variant(MODIFIER|||c.-26-8189A>G|496|CASP8|protein_coding|CODING|NM_001228.4|2|1),intron_variant(MODIFIER|||c.-26-8189A>G|235|CASP8|protein_coding|CODING|NM_033358.3|2|1),intron_variant(MODIFIER|||c.1-8215A>G|479|CASP8|protein_coding|CODING|NM_033355.3|2|1),non_coding_exon_variant(MODIFIER|||n.242A>G||CASP8||CODING|NR_111983.1|1|1)","GM12878:Cmyc,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,GM12878:p300,HUVEC:H3K4me2,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,CD4:p300,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,GM12878:PU1,CD4:H3K9ac,K562:SP1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,CD4:H2BK12ac,IMR90:H4K8ac",,,,0.6677,0.5922,0.6918,0.67,0.59,0.71,,0.000036(U),1.000(P),4.26(T),0.0000(T),0.07,1.627895,3.94,2.78,-0.263000,0.875000,1.746000,0.001000,0.004000,0.990000,6.1343
synonymous_variant,CASP8,SILENT,NM_001080125.1:p.Lys379Lys/c.1137G>A,aaG/aaA,LOW,,0.175319,0.1885,rs1045487,,,,,,chr2,202149696,202149696,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys305Lys/c.915G>A|464|CASP8|protein_coding|CODING|NM_001080124.1|8|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys379Lys/c.1137G>A|538|CASP8|protein_coding|CODING|NM_001080125.1|8|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys337Lys/c.1011G>A|496|CASP8|protein_coding|CODING|NM_001228.4|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys320Lys/c.960G>A|479|CASP8|protein_coding|CODING|NM_033355.3|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys305Lys/c.915G>A|464|CASP8|protein_coding|CODING|NM_033356.3|7|1),non_coding_exon_variant(MODIFIER|||n.1474G>A||CASP8||CODING|NR_111983.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.273,0.0504,0.0417,0.11,0.21,0.05,,,,,,,,,,,,,,,,
missense_variant,ALS2CR12,MISSENSE,NM_139163.3:p.Val43Leu/c.127G>C,Gta/Cta,MODERATE,,0.709065,0.7292,rs13014235,0.6(T),"0.0,0.0(B,B)",-0.895(N),-0.9841(T),,chr2,202215492,202215492,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val43Leu/c.127G>C|422|ALS2CR12|protein_coding|CODING|NM_001127391.2|3|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val43Leu/c.127G>C|422|ALS2CR12|protein_coding|CODING|NM_001289993.1|3|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val43Leu/c.127G>C|445|ALS2CR12|protein_coding|CODING|NM_139163.3|3|1),non_coding_exon_variant(MODIFIER|||n.591G>C||ALS2CR12||CODING|NR_110620.1|3|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.8395,0.4971,0.6054,0.65,0.75,0.59,,0.231085(N),1.000(P),"1.06,1.06,1.06,1.06,1.1(T,T,T,T,T)",0.0000(T),0.04,-0.569691,4.54,-0.808,-0.120000,-0.394000,-1.077000,0.338000,0.000000,0.001000,6.5755
synonymous_variant,TRAK2,SILENT,NM_015049.2:p.His296His/c.888C>T,caC/caT,LOW,,0.974641,1,rs2256584,,,,,,chr2,202260049,202260049,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His296His/c.888C>T|914|TRAK2|protein_coding|CODING|NM_015049.2|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,TRAK2,MISSENSE,NM_015049.2:p.Val142Ile/c.424G>A,Gtc/Atc,MODERATE,COSM3757880(1),0.539337,0.4911,rs13022344,0.22(T),"0.001,0.008(B,B)",0.695(N),-0.9881(T),,chr2,202264156,202264156,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val142Ile/c.424G>A|914|TRAK2|protein_coding|CODING|NM_015049.2|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7014,0.5634,0.663,0.57,0.37,0.67,,0.014683(N),0.000(P),"2.19,2.19(T,T)",0.0000(T),0.061,2.058989,6.07,5.2,-0.150000,1.580000,2.282000,0.991000,1.000000,1.000000,6.0626
synonymous_variant,STRADB,SILENT,NM_018571.5:p.Thr82Thr/c.246A>G,acA/acG,LOW,COSM3757881(1),0.710264,0.7421,rs1019299,,,,,,chr2,202337730,202337730,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr82Thr/c.246A>G|377|STRADB|protein_coding|CODING|NM_001206864.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr82Thr/c.246A>G|418|STRADB|protein_coding|CODING|NM_018571.5|5|1)","HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.865,0.5893,0.66,0.67,0.66,0.67,,,,,,,,,,,,,,,,
synonymous_variant,STRADB,SILENT,NM_018571.5:p.Leu203Leu/c.609G>T,ctG/ctT,LOW,COSM3766529(1),0.471845,0.494,rs12990557,,,,,,chr2,202342402,202342402,G,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu203Leu/c.609G>T|377|STRADB|protein_coding|CODING|NM_001206864.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu203Leu/c.609G>T|418|STRADB|protein_coding|CODING|NM_018571.5|8|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6472,0.4986,0.5865,0.48,0.27,0.60,,,,,,,,,,,,,,,,
missense_variant,ALS2CR11,MISSENSE,NM_001168221.1:p.Cys1039Gly/c.3115T>G,Tgt/Ggt,MODERATE,,0.996605,1,rs2714482,0.54(T),0.0(B),-0.69(N),-1.0108(T),,chr2,202357949,202357949,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys1039Gly/c.3115T>G|1820|ALS2CR11|protein_coding|CODING|NM_001168221.1|15|1),intron_variant(MODIFIER|||c.*49+2669T>G|395|ALS2CR11|protein_coding|CODING|NM_001168216.1|12|1),intron_variant(MODIFIER|||c.1581+2669T>G|623|ALS2CR11|protein_coding|CODING|NM_152525.5|14|1)","HUVEC:H3K27me3,HMEC:H3K27me3",,,,1,1,1,,,,,,1.000(P),0.97(T),0.0000(T),0.025,-1.353349,5.23,2.1,-0.215000,-0.011000,-0.636000,0.003000,0.000000,0.000000,7.0625
missense_variant,ALS2CR11,MISSENSE,NM_001168221.1:p.His376Gln/c.1128T>A,caT/caA,MODERATE,,0.513578,0.7569,rs10804117,0.7(T),"0.0,0.0,0.0(B,B,B)",-0.69(N),-0.9891(T),,chr2,202410300,202410300,A,T,het,"missense_variant(MODERATE|MISSENSE|caT/caA|p.His376Gln/c.1128T>A|395|ALS2CR11|protein_coding|CODING|NM_001168216.1|11|1),missense_variant(MODERATE|MISSENSE|caT/caA|p.His376Gln/c.1128T>A|550|ALS2CR11|protein_coding|CODING|NM_001168217.1|11|1),missense_variant(MODERATE|MISSENSE|caT/caA|p.His376Gln/c.1128T>A|1820|ALS2CR11|protein_coding|CODING|NM_001168221.1|11|1),missense_variant(MODERATE|MISSENSE|caT/caA|p.His376Gln/c.1128T>A|623|ALS2CR11|protein_coding|CODING|NM_152525.5|11|1)",,,,,0.5532,0.5648,0.4553,0.38,0.33,0.41,,0.003485(N),1.000(P),"1.08,1.08,1.08,1.08(T,T,T,T)",0.0000(T),0.044,-0.988199,3.96,-6.45,-1.806000,-1.938000,-1.669000,0.000000,0.000000,0.000000,0.4808
synonymous_variant,ALS2CR11,SILENT,NM_001168221.1:p.Thr97Thr/c.291G>A,acG/acA,LOW,,0.977636,1,rs12474206,,,,,,chr2,202469361,202469361,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr97Thr/c.291G>A|395|ALS2CR11|protein_coding|CODING|NM_001168216.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr97Thr/c.291G>A|550|ALS2CR11|protein_coding|CODING|NM_001168217.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr97Thr/c.291G>A|1820|ALS2CR11|protein_coding|CODING|NM_001168221.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr97Thr/c.291G>A|623|ALS2CR11|protein_coding|CODING|NM_152525.5|2|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.999,0.9928,0.999,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,MPP4,MISSENSE,NM_033066.2:p.Gly44Ser/c.130G>A,Ggc/Agc,MODERATE,COSM4133379(1),0.97504,1,rs6725443,0.78(T),"0.001,0.0,0.001,0.0,0.001,0.003,0.002,0.001(B,B,B,B,B,B,B,B)",-0.695(N),-0.9873(T),,chr2,202557702,202557702,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly44Ser/c.130G>A|637|MPP4|protein_coding|CODING|NM_033066.2|3|1),"HepG2:H3K4me2,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,0.9928,1,0.97,0.91,1.00,,0.000255(N),1.000(P),"3.65,3.65,3.65,3.66,3.71,3.66(T,T,T,T,T,T)",0.0000(T),0.224,1.138395,5.12,3.92,-0.254000,0.476000,1.686000,0.648000,1.000000,1.000000,7.1071
synonymous_variant,ALS2,SILENT,NM_020919.3:p.Leu1339Leu/c.4015C>T,Ctg/Ttg,LOW,,0.905351,0.9742,rs3219168,,,,,,chr2,202575821,202575821,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1339Leu/c.4015C>T|1657|ALS2|protein_coding|CODING|NM_020919.3|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9673,0.8919,0.9165,0.89,0.82,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ALS2,SILENT,NM_020919.3:p.Val822Val/c.2466G>A,gtG/gtA,LOW,COSM149044(2),0.372404,0.3502,rs2276615,,,,,,chr2,202598113,202598113,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val822Val/c.2466G>A|1657|ALS2|protein_coding|CODING|NM_020919.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1",,,,0.3415,0.6542,0.5875,0.47,0.16,0.60,,,,,,,,,,,,,,,,
missense_variant,ALS2,MISSENSE,NM_020919.3:p.Val368Met/c.1102G>A,Gtg/Atg,MODERATE,,0.896565,1,rs3219156,0.29(T),"0.009,0.002,0.001,0.001(B,B,B,B)",-0.41(N),-0.9972(T),,chr2,202625615,202625615,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val368Met/c.1102G>A|396|ALS2|protein_coding|CODING|NM_001135745.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val368Met/c.1102G>A|1657|ALS2|protein_coding|CODING|NM_020919.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.953,0.9251,0.9026,0.86,0.78,0.90,,0.334922(N),1.000(P),"0.48,0.77(T,T)",0.0000(T),0.035,-0.554625,6.16,-3.78,-2.772000,-1.803000,-2.357000,0.008000,0.001000,0.000000,8.7139
synonymous_variant,LOC100652824,SILENT,NM_001277372.1:p.Glu291Glu/c.873G>A,gaG/gaA,LOW,,0.472444,0.2391,rs2882486,,,,,,chr2,202964380,202964380,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu291Glu/c.873G>A|1180|LOC100652824|protein_coding|CODING|NM_001277372.1|6|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.498,0.4798,0.5239,,,,,,,,,,,,,,,,,,,
missense_variant,LOC100652824,MISSENSE,NM_001277372.1:p.Val535Gly/c.1604T>G,gTg/gGg,MODERATE,COSM4001472(1),0.127995,0.1776,rs12615065,0.56(T),"0.001,0.003(B,B)",0.345(N),-1.0599(T),,chr2,202974360,202974360,T,G,het,missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val535Gly/c.1604T>G|1180|LOC100652824|protein_coding|CODING|NM_001277372.1|10|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1554,0.1037,0.1938,,,,,0.011020(N),1.000(P),,0.0001(T),0.13,0.822381,5.2,-6.29,-1.139000,-1.117000,-1.604000,0.001000,0.000000,0.000000,4.6908
missense_variant,WDR12,MISSENSE,NM_018256.3:p.Ile75Val/c.223A>G,Atc/Gtc,MODERATE,,0.0459265,0.0159,rs35212307,0.27(T),"0.002,0.002(B,B)",1.415(L),-1.0818(T),,chr2,203765756,203765756,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile75Val/c.223A>G|423|WDR12|protein_coding|CODING|NM_018256.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0143,0.0735,0.1302,0.10,0.03,0.13,,0.000000(D),0.000(P),0.48(T),0.0011(T),0.148,3.045462,5.83,4.69,0.477000,2.224000,6.288000,0.924000,1.000000,1.000000,11.3154
missense_variant,CARF,MISSENSE,NM_001104586.2:p.Tyr571Phe/c.1712A>T,tAc/tTc,MODERATE,,0.0471246,0.0159,rs72932557,1(T),"0.0,0.0,0.0(B,B,B)",-1.79(N),-1.0172(T),,chr2,203846817,203846817,A,T,het,"missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr571Phe/c.1712A>T|725|CARF|protein_coding|CODING|NM_001104586.2|15|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr495Phe/c.1484A>T|649|CARF|protein_coding|CODING|NM_001282910.1|14|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr495Phe/c.1484A>T|649|CARF|protein_coding|CODING|NM_001282911.1|15|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr483Phe/c.1448A>T|637|CARF|protein_coding|CODING|NM_001282912.1|13|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr571Phe/c.1712A>T|725|CARF|protein_coding|CODING|NM_024744.15|16|1)",,,,,0.0143,0.0749,0.1302,0.10,0.04,0.13,,0.001971(N),0.671(P),,0.0002(T),0.117,-0.195095,5.45,4.26,-0.257000,0.341000,0.917000,0.867000,0.278000,0.839000,8.9639
synonymous_variant,NBEAL1,SILENT,NM_001114132.1:p.Val957Val/c.2871T>G,gtT/gtG,LOW,,0.038738,0.001,rs72934556,,,,,,chr2,203990789,203990789,T,G,het,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val957Val/c.2871T>G|2694|NBEAL1|protein_coding|CODING|NM_001114132.1|20|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0143,0.0692,0.1223,0.09,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,NBEAL1,MISSENSE,NM_001114132.1:p.Ile2330Val/c.6988A>G,Atc/Gtc,MODERATE,,0.860823,0.9246,rs4675323,1(T),0.0(B),-1.695(N),-0.9489(T),,chr2,204062061,204062061,A,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile2330Val/c.6988A>G|2694|NBEAL1|protein_coding|CODING|NM_001114132.1|47|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9458,0.9366,0.9612,0.89,0.74,0.96,,0.000145(N),1.000(P),"0.82,0.82(T,T)",0.0000(T),0.028,0.157140,5.7,3.88,-0.320000,0.339000,4.877000,0.929000,0.815000,1.000000,10.1336
missense_variant,CYP20A1,MISSENSE,NM_177538.2:p.Ser97Leu/c.290C>T,tCg/tTg,MODERATE,,0.869409,0.9266,rs2043449,,"0.001,0.002(B,B)",0.805(L),-0.9695(T),,chr2,204116690,204116690,C,T,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser97Leu/c.290C>T|462|CYP20A1|protein_coding|CODING|NM_177538.2|4|1),splice_region_variant(LOW|||c.290C>T|462|CYP20A1|protein_coding|CODING|NM_177538.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9479,0.9366,0.9632,0.89,0.74,0.97,,0.041429(N),0.735(P),"-0.41,-0.41,-0.41(T,T,T)",0.0000(T),0.24,-0.208532,5.52,-5.93,-2.986000,-1.942000,-0.128000,0.726000,0.388000,0.110000,15.4751
missense_variant,CYP20A1,MISSENSE,NM_177538.2:p.Leu346Phe/c.1036C>T,Ctt/Ttt,MODERATE,,0.39996,0.3194,rs1048013,0.61(T),"0.015,0.023(B,B)",1.7(L),-0.9291(T),,chr2,204154552,204154552,C,T,het,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu346Phe/c.1036C>T|462|CYP20A1|protein_coding|CODING|NM_177538.2|10|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6258,0.4438,0.5606,0.45,0.22,0.56,,0.000004(D),0.000(P),"-0.46,-0.46(T,T)",0.0000(T),0.358,2.549672,5.6,5.6,0.580000,2.667000,4.719000,0.971000,1.000000,1.000000,19.6715
synonymous_variant,RAPH1,SILENT,NM_213589.2:p.Pro940Pro/c.2820A>G,ccA/ccG,LOW,,0.415335,0.3909,rs3814365,,,,,,chr2,204305093,204305093,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro940Pro/c.2820A>G|1250|RAPH1|protein_coding|CODING|NM_213589.2|14|1),downstream_gene_variant(MODIFIER||1099||644|RAPH1|protein_coding|CODING|NM_203365.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6319,0.4424,0.5577,0.45,0.22,0.57,,,,,,,,,,,,,,,,
synonymous_variant,RAPH1,SILENT,NM_213589.2:p.Lys371Lys/c.1113A>G,aaA/aaG,LOW,,0.596845,0.4067,rs2469953,,,,,,chr2,204322298,204322298,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys423Lys/c.1269A>G|644|RAPH1|protein_coding|CODING|NM_203365.3|10|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys371Lys/c.1113A>G|1250|RAPH1|protein_coding|CODING|NM_213589.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6759,0.5245,0.5905,0.63,0.69,0.60,,,,,,,,,,,,,,,,
synonymous_variant,PARD3B,SILENT,NM_152526.5:p.Ala113Ala/c.339C>T,gcC/gcT,LOW,COSM1404700(1),0.803714,0.7718,rs236843,,,,,,chr2,205829991,205829991,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala113Ala/c.339C>T|1136|PARD3B|protein_coding|CODING|NM_057177.6|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala113Ala/c.339C>T|1143|PARD3B|protein_coding|CODING|NM_152526.5|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala113Ala/c.339C>T|1104|PARD3B|protein_coding|CODING|NM_205863.3|3|1)",,,,,0.8507,0.7536,0.6153,0.66,0.88,0.57,,,,,,,,,,,,,,,,
missense_variant,PARD3B,MISSENSE,NM_152526.5:p.Leu165Pro/c.494T>C,cTg/cCg,MODERATE,COSM3757889(1),0.544728,0.4802,rs1510765,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.61(N),-0.9581(T),,chr2,205912403,205912403,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu165Pro/c.494T>C|1136|PARD3B|protein_coding|CODING|NM_057177.6|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu165Pro/c.494T>C|1143|PARD3B|protein_coding|CODING|NM_152526.5|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu165Pro/c.494T>C|1104|PARD3B|protein_coding|CODING|NM_205863.3|4|1)","HSMM:H3K36me3,H1ESC:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,0.6534,0.3905,0.6362,0.61,0.55,0.64,,0.000221(N),0.407(P),"3.03,2.8,3.03,3.03(T,T,T,T)",0.0000(T),0.067,-2.321399,5.57,4.69,-0.119000,0.722000,1.255000,0.064000,0.996000,1.000000,5.4606
missense_variant,PARD3B,MISSENSE,NM_152526.5:p.Arg192Lys/c.575G>A,aGa/aAa,MODERATE,,0.663538,0.8085,rs2289025,0.96(T),"0.001,0.0,0.0,0.001,0.001(B,B,B,B,B)",-0.46(N),-0.9889(T),,chr2,205969220,205969220,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg192Lys/c.575G>A|1136|PARD3B|protein_coding|CODING|NM_057177.6|5|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg192Lys/c.575G>A|1143|PARD3B|protein_coding|CODING|NM_152526.5|5|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg192Lys/c.575G>A|1104|PARD3B|protein_coding|CODING|NM_205863.3|5|1)",HSMM:H3K36me3,,,,0.7505,0.7205,0.5895,0.60,0.54,0.62,,0.080996(N),1.000(P),"2.29,2.29,2.29,2.29(T,T,T,T)",0.0000(T),0.019,-1.004724,5.38,0.103,-1.301000,-0.419000,0.257000,0.002000,0.001000,0.002000,9.3042
synonymous_variant,PARD3B,SILENT,NM_152526.5:p.Gln271Gln/c.813A>G,caA/caG,LOW,COSM3757893(2),0.270367,0.4058,rs2289023,,,,,,chr2,205986321,205986321,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln271Gln/c.813A>G|1136|PARD3B|protein_coding|CODING|NM_057177.6|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln271Gln/c.813A>G|1143|PARD3B|protein_coding|CODING|NM_152526.5|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln271Gln/c.813A>G|1104|PARD3B|protein_coding|CODING|NM_205863.3|8|1)",HSMM:H3K36me3,,,,0.4346,0.1585,0.2256,0.20,0.15,0.23,,,,,,,,,,,,,,,,
missense_variant,PARD3B,MISSENSE,NM_152526.5:p.Arg275Cys/c.823C>T,Cgc/Tgc,MODERATE,,0.000399361,0,rs140915034,0(D),"0.999,0.998,0.997,1.0,1.0(D,D,D,D,D)",2.535(M),-0.8594(T),,chr2,205986331,205986331,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg275Cys/c.823C>T|1136|PARD3B|protein_coding|CODING|NM_057177.6|8|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg275Cys/c.823C>T|1143|PARD3B|protein_coding|CODING|NM_152526.5|8|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg275Cys/c.823C>T|1104|PARD3B|protein_coding|CODING|NM_205863.3|8|1)",HSMM:H3K36me3,,,,0,0,0,0.00,0.00,0.00,,0.000000(D),1.000(D),"2.02,2.02,2.02,2.02(T,T,T,T)",0.1790(T),0.852,4.481799,6.16,6.16,0.650000,2.937000,5.459000,0.609000,0.997000,1.000000,20.8598
synonymous_variant,PARD3B,SILENT,NM_152526.5:p.Thr442Thr/c.1326C>T,acC/acT,LOW,,0.307109,0.4167,rs2276676,,,,,,chr2,205990353,205990353,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr442Thr/c.1326C>T|1136|PARD3B|protein_coding|CODING|NM_057177.6|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr442Thr/c.1326C>T|1143|PARD3B|protein_coding|CODING|NM_152526.5|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr442Thr/c.1326C>T|1104|PARD3B|protein_coding|CODING|NM_205863.3|10|1)","HSMM:H3K36me3,IMR90:H3K36me3",,,,0.3323,0.4942,0.3032,0.26,0.14,0.32,,,,,,,,,,,,,,,,
missense_variant,PARD3B,MISSENSE,NM_152526.5:p.Thr873Ile/c.2618C>T,aCt/aTt,MODERATE,,0.0670927,0.001,rs10185378,0.36(T),"0.011,0.002,0.027(B,B,B)",1.59(L),-1.0827(T),,chr2,206305156,206305156,C,T,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr866Ile/c.2597C>T|1136|PARD3B|protein_coding|CODING|NM_057177.6|19|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr873Ile/c.2618C>T|1143|PARD3B|protein_coding|CODING|NM_152526.5|19|1),intron_variant(MODIFIER|||c.2741+39309C>T|1104|PARD3B|protein_coding|CODING|NM_205863.3|19|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.0112,0.0461,0.0567,0.10,0.18,0.07,,0.070680(N),1.000(P),"1.57,1.57,1.57(T,T,T)",0.0001(T),0.056,-2.064669,5.35,4.42,0.467000,2.670000,1.819000,0.121000,0.008000,0.022000,8.7422
synonymous_variant,PARD3B,SILENT,NM_152526.5:p.Ser992Ser/c.2976T>C,tcT/tcC,LOW,COSM3757895(2),0.448482,0.4871,rs10197347,,,,,,chr2,206364737,206364737,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser985Ser/c.2955T>C|1136|PARD3B|protein_coding|CODING|NM_057177.6|20|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser992Ser/c.2976T>C|1143|PARD3B|protein_coding|CODING|NM_152526.5|20|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser953Ser/c.2859T>C|1104|PARD3B|protein_coding|CODING|NM_205863.3|20|1)",IMR90:H3K36me3,,,,0.4806,0.5692,0.4115,0.38,0.37,0.38,,,,,,,,,,,,,,,,
missense_variant,NRP2,MISSENSE,NM_201266.1:p.Arg123Lys/c.368G>A,aGg/aAg,MODERATE,,0.964257,1,rs849541,1(T),"0.002,0.002,0.0,0.004,0.004,0.003(B,B,B,B,B,B)",0.21(N),-0.9129(T),,chr2,206581033,206581033,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg123Lys/c.368G>A|926|NRP2|protein_coding|CODING|NM_003872.2|3|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg123Lys/c.368G>A|906|NRP2|protein_coding|CODING|NM_018534.3|3|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg123Lys/c.368G>A|555|NRP2|protein_coding|CODING|NM_201264.1|3|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg123Lys/c.368G>A|931|NRP2|protein_coding|CODING|NM_201266.1|3|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg123Lys/c.368G>A|901|NRP2|protein_coding|CODING|NM_201267.1|3|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg123Lys/c.368G>A|909|NRP2|protein_coding|CODING|NM_201279.1|3|1)","NHEK:CTCF,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,H1ESC:CTCF",,,,1,0.9914,1,0.96,0.89,1.00,,0.000000(N),0.997(P),"1.33,1.33,1.33,1.33,1.33,1.33,1.33,1.33,1.33(T,T,T,T,T,T,T,T,T)",0.0000(T),0.24,1.379708,6.17,6.17,-0.254000,1.158000,1.612000,0.989000,1.000000,1.000000,9.5982
synonymous_variant,NRP2,SILENT,NM_201266.1:p.Tyr357Tyr/c.1071T>C,taT/taC,LOW,COSM3757902(2),0.517572,0.8075,rs849526,,,,,,chr2,206592695,206592695,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr357Tyr/c.1071T>C|926|NRP2|protein_coding|CODING|NM_003872.2|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr357Tyr/c.1071T>C|906|NRP2|protein_coding|CODING|NM_018534.3|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr357Tyr/c.1071T>C|555|NRP2|protein_coding|CODING|NM_201264.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr357Tyr/c.1071T>C|931|NRP2|protein_coding|CODING|NM_201266.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr357Tyr/c.1071T>C|901|NRP2|protein_coding|CODING|NM_201267.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr357Tyr/c.1071T>C|909|NRP2|protein_coding|CODING|NM_201279.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7434,0.5533,0.5636,0.41,0.16,0.54,,,,,,,,,,,,,,,,
synonymous_variant,NRP2,SILENT,NM_201266.1:p.Val468Val/c.1404T>C,gtT/gtC,LOW,,0.964657,1,rs849568,,,,,,chr2,206608039,206608039,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val468Val/c.1404T>C|926|NRP2|protein_coding|CODING|NM_003872.2|9|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val468Val/c.1404T>C|906|NRP2|protein_coding|CODING|NM_018534.3|9|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val468Val/c.1404T>C|931|NRP2|protein_coding|CODING|NM_201266.1|9|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val468Val/c.1404T>C|901|NRP2|protein_coding|CODING|NM_201267.1|9|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val468Val/c.1404T>C|909|NRP2|protein_coding|CODING|NM_201279.1|9|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val468Val/c.1404T>C|555|NRP2|protein_coding|CODING|NM_201264.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9969,0.9784,0.9751,0.96,0.91,0.98,,,,,,,,,,,,,,,,
synonymous_variant,INO80D,SILENT,NM_017759.4:p.Pro574Pro/c.1722C>T,ccC/ccT,LOW,,0.38758,0.502,rs817991,,,,,,chr2,206874339,206874339,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro574Pro/c.1722C>T|1027|INO80D|protein_coding|CODING|NM_017759.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.3228,0.3499,0.31,0.20,0.36,,,,,,,,,,,,,,,,
missense_variant,INO80D,MISSENSE,NM_017759.4:p.Ala358Val/c.1073C>T,gCg/gTg,MODERATE,,0.390375,0.4792,rs2909111,,0.0(B),0(N),-0.9156(T),,chr2,206911228,206911228,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala358Val/c.1073C>T|1027|INO80D|protein_coding|CODING|NM_017759.4|5|1),splice_region_variant(LOW|||c.1073C>T|1027|INO80D|protein_coding|CODING|NM_017759.4|5|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.3242,0.3439,0.32,0.23,0.36,,0.186596(N),0.998(P),"0.97,0.97(T,T)",0.0000(T),0.034,2.316205,5.54,-1.7,0.655000,-0.190000,-0.045000,0.769000,0.984000,0.181000,4.9832
synonymous_variant,INO80D,SILENT,NM_017759.4:p.Thr145Thr/c.435C>T,acC/acT,LOW,,0.721845,0.745,rs818009,,,,,,chr2,206921451,206921451,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr145Thr/c.435C>T|1027|INO80D|protein_coding|CODING|NM_017759.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.865,0.7695,0.7505,0.72,0.58,0.78,,,,,,,,,,,,,,,,
synonymous_variant,NDUFS1,SILENT,NM_001199984.1:p.Arg431Arg/c.1293A>G,agA/agG,LOW,COSM4001476(1),0.309904,0.2133,rs1801318,,,,,,chr2,207006676,207006676,T,C,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg381Arg/c.1143A>G|691|NDUFS1|protein_coding|CODING|NM_001199981.1|11|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg306Arg/c.918A>G|616|NDUFS1|protein_coding|CODING|NM_001199982.1|9|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg360Arg/c.1080A>G|670|NDUFS1|protein_coding|CODING|NM_001199983.1|11|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg431Arg/c.1293A>G|741|NDUFS1|protein_coding|CODING|NM_001199984.1|12|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg417Arg/c.1251A>G|727|NDUFS1|protein_coding|CODING|NM_005006.6|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117709.2,,0.2025,0.2882,0.341,0.36,0.44,0.32,,,,,,,,,,,,,,,,
synonymous_variant,NDUFS1,SILENT,NM_001199984.1:p.Ala336Ala/c.1008G>T,gcG/gcT,LOW,COSM1129370(3),0.46226,0.2609,rs1127566,,,,,,chr2,207008763,207008763,C,A,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala286Ala/c.858G>T|691|NDUFS1|protein_coding|CODING|NM_001199981.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala211Ala/c.633G>T|616|NDUFS1|protein_coding|CODING|NM_001199982.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala265Ala/c.795G>T|670|NDUFS1|protein_coding|CODING|NM_001199983.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala336Ala/c.1008G>T|741|NDUFS1|protein_coding|CODING|NM_001199984.1|10|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala322Ala/c.966G>T|727|NDUFS1|protein_coding|CODING|NM_005006.6|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117710.2,,0.316,0.5778,0.4831,0.51,0.64,0.45,,,,,,,,,,,,,,,,
missense_variant,GPR1,MISSENSE,NM_001098199.1:p.Ile307Val/c.919A>G,Att/Gtt,MODERATE,COSM4001478(2),0.46246,0.2579,rs3732083,0.21(T),0.011(B),0(N),-0.9792(T),,chr2,207041053,207041053,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile307Val/c.919A>G|355|GPR1|protein_coding|CODING|NM_001098199.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile307Val/c.919A>G|355|GPR1|protein_coding|CODING|NM_001261452.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile307Val/c.919A>G|355|GPR1|protein_coding|CODING|NM_001261453.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile307Val/c.919A>G|355|GPR1|protein_coding|CODING|NM_001261454.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile307Val/c.919A>G|355|GPR1|protein_coding|CODING|NM_001261455.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile307Val/c.919A>G|355|GPR1|protein_coding|CODING|NM_005279.3|3|1)","NH-A:DNase1,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3221,0.5735,0.4831,0.51,0.63,0.45,,0.000051(D),0.015(P),"1.24,1.24(T,T)",0.0000(T),0.111,1.325180,5.7,5.7,0.533000,2.177000,3.455000,0.599000,0.995000,1.000000,12.4853
synonymous_variant,GPR1,SILENT,NM_001098199.1:p.Asp177Asp/c.531C>T,gaC/gaT,LOW,COSM4001479(2),0.345248,0.2569,rs3732082,,,,,,chr2,207041441,207041441,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp177Asp/c.531C>T|355|GPR1|protein_coding|CODING|NM_001098199.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp177Asp/c.531C>T|355|GPR1|protein_coding|CODING|NM_001261452.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp177Asp/c.531C>T|355|GPR1|protein_coding|CODING|NM_001261453.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp177Asp/c.531C>T|355|GPR1|protein_coding|CODING|NM_001261454.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp177Asp/c.531C>T|355|GPR1|protein_coding|CODING|NM_001261455.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp177Asp/c.531C>T|355|GPR1|protein_coding|CODING|NM_005279.3|3|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2853,0.3112,0.3738,0.38,0.44,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ZDBF2,SILENT,NM_020923.2:p.Gln1125Gln/c.3375A>G,caA/caG,LOW,COSM442176(1),0.457867,0.3571,rs7582864,,,,,,chr2,207172627,207172627,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1123Gln/c.3369A>G|2352|ZDBF2|protein_coding|CODING|NM_001285549.1|7|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln1125Gln/c.3375A>G|2354|ZDBF2|protein_coding|CODING|NM_020923.2|5|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.5256,0.6066,0.5636,0.53,0.40,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ZDBF2,SILENT,NM_020923.2:p.Ser1688Ser/c.5064T>C,agT/agC,LOW,,0.475639,0.3562,rs3732084,,,,,,chr2,207174316,207174316,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser1686Ser/c.5058T>C|2352|ZDBF2|protein_coding|CODING|NM_001285549.1|7|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser1688Ser/c.5064T>C|2354|ZDBF2|protein_coding|CODING|NM_020923.2|5|1)","HUVEC:H3K27me3,GM06990:H3K36me3",,,,0.5276,0.6182,0.5706,0.56,0.46,0.61,,,,,,,,,,,,,,,,
missense_variant,DYTN,MISSENSE,NM_001093730.1:p.Gln474Lys/c.1420C>A,Cag/Aag,MODERATE,COSM3757908(1),0.394968,0.1716,rs2115591,1(T),0.0(B),-0.695(N),-0.9555(T),,chr2,207527840,207527840,G,T,hom,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln474Lys/c.1420C>A|578|DYTN|protein_coding|CODING|NM_001093730.1|11|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.2413,0.4942,0.3738,0.43,0.58,0.36,,,1.000(P),2.68(T),0.0000(T),0.042,-1.412533,5.12,0.26,-1.816000,-0.055000,0.883000,0.000000,0.000000,0.002000,4.8672
synonymous_variant,MDH1B,SILENT,NM_001039845.2:p.Tyr92Tyr/c.276T>C,taT/taC,LOW,,1,1,rs1990849,,,,,,chr2,207621759,207621759,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr92Tyr/c.276T>C|518|MDH1B|protein_coding|CODING|NM_001039845.2|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr92Tyr/c.276T>C|517|MDH1B|protein_coding|CODING|NM_001282940.1|4|1),non_coding_exon_variant(MODIFIER|||n.554T>C||MDH1B||CODING|NR_104261.1|4|1)",HUVEC:H3K27me3,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CPO,MISSENSE,NM_173077.2:p.Met85Ile/c.255G>A,atG/atA,MODERATE,,0.382388,0.4067,rs13420911,0.7(T),0.014(B),-1.19(N),-0.9609(T),,chr2,207820276,207820276,G,A,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met85Ile/c.255G>A|374|CPO|protein_coding|CODING|NM_173077.2|3|1),,,,,0.3681,0.2579,0.4553,0.45,0.39,0.48,,0.000000(D),0.965(P),3.12(T),0.0000(T),0.171,-0.473902,5.11,5.11,0.561000,2.660000,1.092000,0.267000,0.999000,1.000000,11.0191
missense_variant,CPO,MISSENSE,NM_173077.2:p.Ser134Arg/c.402T>G,agT/agG,MODERATE,COSM4001483(1),0.434105,0.4058,rs11903403,0.6(T),0.0(B),-0.325(N),-0.9632(T),,chr2,207824384,207824384,T,G,het,missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser134Arg/c.402T>G|374|CPO|protein_coding|CODING|NM_173077.2|5|1),,,,,0.3998,0.2752,0.4592,0.49,0.52,0.48,,0.000005(N),1.000(P),2.93(T),0.0000(T),0.054,-0.770360,5.03,1.12,-0.217000,0.051000,0.471000,0.146000,0.611000,0.979000,2.624
synonymous_variant,CPO,SILENT,NM_173077.2:p.Ala188Ala/c.564A>T,gcA/gcT,LOW,COSM4001484(1),0.382987,0.4058,rs13397039,,,,,,chr2,207825656,207825656,A,T,het,synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala188Ala/c.564A>T|374|CPO|protein_coding|CODING|NM_173077.2|6|1),HepG2:H3K27me3,,,,0.3885,0.2579,0.4573,0.44,0.38,0.48,,,,,,,,,,,,,,,,
synonymous_variant,CPO,SILENT,NM_173077.2:p.Thr316Thr/c.948A>G,acA/acG,LOW,,0.288139,0.2589,rs7582305,,,,,,chr2,207833983,207833983,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr316Thr/c.948A>G|374|CPO|protein_coding|CODING|NM_173077.2|9|1),,,,,0.2526,0.2003,0.3032,0.32,0.35,0.31,,,,,,,,,,,,,,,,
synonymous_variant,KLF7,SILENT,NM_003709.3:p.Leu206Leu/c.618G>A,ctG/ctA,LOW,,0.957468,1,rs2700166,,,,,,chr2,207988613,207988613,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu173Leu/c.519G>A|269|KLF7|protein_coding|CODING|NM_001270943.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu178Leu/c.534G>A|274|KLF7|protein_coding|CODING|NM_001270944.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu206Leu/c.618G>A|302|KLF7|protein_coding|CODING|NM_003709.3|2|1),intron_variant(MODIFIER|||c.531+87G>A|230|KLF7|protein_coding|CODING|NM_001270942.1|3|1),intron_variant(MODIFIER|||n.575+455G>A||KLF7||CODING|NR_073108.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KLF7,SILENT,NM_001270944.1:p.Pro3Pro/c.9G>A,ccG/ccA,LOW,COSM4001485(1),0.648962,0.6587,rs2284934,,,,,,chr2,207998800,207998800,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro3Pro/c.9G>A|274|KLF7|protein_coding|CODING|NM_001270944.1|1|1),intron_variant(MODIFIER|||c.103-9672G>A|230|KLF7|protein_coding|CODING|NM_001270942.1|2|1),intron_variant(MODIFIER|||c.103-9672G>A|302|KLF7|protein_coding|CODING|NM_003709.3|1|1),intron_variant(MODIFIER|||n.515-9672G>A||KLF7||CODING|NR_073108.1|2|1),intron_variant(MODIFIER|||c.4-9672G>A|269|KLF7|protein_coding|CODING|NM_001270943.1|1|1)","HSMM:H3K27ac,HSMM:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,HUVEC:Cmyc,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K27ac,NHEK:DNase1",,,,0.6912,0.7594,0.672,,,,,,,,,,,,,,,,,,,
missense_variant,METTL21A,MISSENSE,NM_001127395.1:p.Thr192Ile/c.575C>T,aCt/aTt,MODERATE,COSM4133406(1),0.904153,0.998,rs2551949,0.13(T),0.02(B),1.445(L),-0.9948(T),,chr2,208477852,208477852,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr192Ile/c.575C>T|218|METTL21A|protein_coding|CODING|NM_001127395.1|4|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr192Ile/c.575C>T|218|METTL21A|protein_coding|CODING|NM_145280.4|4|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.954,0.879,0.831,0.83,0.87,0.82,,0.259817(N),0.000(P),"2.36,2.36,2.36,2.36,2.36,2.36(T,T,T,T,T,T)",0.0000(T),0.12,1.107586,4.76,2.88,0.561000,0.678000,3.042000,0.945000,0.993000,0.999000,11.4516
synonymous_variant,METTL21A,SILENT,NM_001127395.1:p.Gln157Gln/c.471G>A,caG/caA,LOW,,0.904153,0.998,rs2709416,,,,,,chr2,208477956,208477956,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln157Gln/c.471G>A|218|METTL21A|protein_coding|CODING|NM_001127395.1|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln157Gln/c.471G>A|218|METTL21A|protein_coding|CODING|NM_145280.4|4|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.954,0.879,0.831,0.83,0.87,0.82,,,,,,,,,,,,,,,,
synonymous_variant,FZD5,SILENT,NM_003468.3:p.Leu17Leu/c.51A>G,ctA/ctG,LOW,COSM3749629(8),0.991414,1,rs4675711,,,,,,chr2,208633413,208633413,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu17Leu/c.51A>G|585|FZD5|protein_coding|CODING|NM_003468.3|2|1),"CD4:H3K9me1,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.999,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHM3,SILENT,NM_001080475.2:p.Lys562Lys/c.1686G>A,aaG/aaA,LOW,COSM3757920(2),0.543131,0.4038,rs10932215,,,,-0.9645(T),,chr2,208811097,208811097,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys562Lys/c.1686G>A|761|PLEKHM3|protein_coding|CODING|NM_001080475.2|4|1),"IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.4264,0.4986,0.6113,0.65,0.69,0.63,,,0.000(P),,0.0000(T),.,0.685683,5.55,1.64,-0.254000,-0.096000,0.061000,0.822000,0.946000,0.963000,11.4254
synonymous_variant,PLEKHM3,SILENT,NM_001080475.2:p.Asn319Asn/c.957T>C,aaT/aaC,LOW,COSM4001487(2),0.569688,0.4702,rs4441448,,,,,,chr2,208841964,208841964,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn319Asn/c.957T>C|761|PLEKHM3|protein_coding|CODING|NM_001080475.2|3|1),"GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4305,0.6599,0.7356,0.68,0.61,0.72,,,1.000(P),,,.,-1.598639,5.96,-11.2,-1.871000,-2.726000,-0.492000,0.000000,0.007000,0.069000,1.1635
synonymous_variant,CRYGD,SILENT,NM_006891.3:p.Arg95Arg/c.285A>G,agA/agG,LOW,,0.776757,0.6131,rs2305430,,,,,,chr2,208986637,208986637,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg95Arg/c.285A>G|174|CRYGD|protein_coding|CODING|NM_006891.3|3|1),intron_variant(MODIFIER|||n.97+2688T>C||LOC100507443||NON_CODING|NR_038437.1|1|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.7311,0.7767,0.9165,0.89,0.85,0.92,,,,,,,,,,,,,,,,
missense_variant,CRYGB,MISSENSE,NM_005210.3:p.Ile111Leu/c.331A>C,Atc/Ctc,MODERATE,COSM3757921(1),0.644569,0.5952,rs796287,0.06(T),0.0(B),-0.77(N),-0.9320(T),,chr2,209007559,209007559,T,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile111Leu/c.331A>C|175|CRYGB|protein_coding|CODING|NM_005210.3|3|1),intron_variant(MODIFIER|||n.221+5656T>G||LOC100507443||NON_CODING|NR_038437.1|2|1)",HepG2:H3K27me3,,,,0.7086,0.5447,0.7326,0.72,0.68,0.74,,0.031104(N),1.000(P),-0.95(T),0.0000(T),0.019,1.474126,4.64,0.468,-0.217000,-0.247000,0.827000,0.613000,0.102000,0.005000,9.4649
missense_variant,C2orf80,MISSENSE,NM_001099334.2:p.Ser152Gly/c.454A>G,Agt/Ggt,MODERATE,,0.856829,0.8542,rs10804166,,,0.975(L),-1.0447(T),,chr2,209036712,209036712,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser152Gly/c.454A>G|193|C2orf80|protein_coding|CODING|NM_001099334.2|7|1),splice_region_variant(LOW|||c.454A>G|193|C2orf80|protein_coding|CODING|NM_001099334.2|7|1)","GM12878:H3K27me3,HepG2:H3K27me3",,,,0.816,0.9352,0.9274,0.89,0.82,0.92,,,0.000(P),,0.0000(T),.,2.109816,5.25,1.54,-0.297000,0.177000,1.553000,0.045000,0.999000,1.000000,3.8963
missense_variant,C2orf80,MISSENSE,NM_001099334.2:p.Cys130Arg/c.388T>C,Tgc/Cgc,MODERATE,,0.983427,1,rs6435421,1(T),0.0(B),-0.805(N),-0.9838(T),,chr2,209036778,209036778,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys130Arg/c.388T>C|193|C2orf80|protein_coding|CODING|NM_001099334.2|7|1),"GM12878:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.999,0.98,0.95,1.00,,0.743154(N),1.000(P),"1.72,2.18,2.16,1.77(T,T,T,T)",0.0000(T),0.629,-2.506678,5.12,4.24,-0.226000,0.873000,1.486000,0.036000,0.005000,0.069000,5.0612
missense_variant,PIKFYVE,MISSENSE,NM_015040.3:p.Ser696Asn/c.2087G>A,aGt/aAt,MODERATE,COSM4133415(1),0.991813,1,rs10932258,0.82(T),"0.0,0.0(B,B)",0.85(L),-0.9411(T),,chr2,209184980,209184980,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser696Asn/c.2087G>A|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,0.000000(N),0.000(P),"-1.23,-1.23(T,T)",0.0000(T),0.053,0.392508,5.83,5.83,-0.269000,1.034000,7.531000,0.672000,1.000000,1.000000,12.0401
synonymous_variant,PIKFYVE,SILENT,NM_015040.3:p.Pro702Pro/c.2106C>T,ccC/ccT,LOW,COSM4133416(1),0.911542,0.9395,rs10932259,,,,,,chr2,209184999,209184999,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro702Pro/c.2106C>T|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9162,0.9769,0.995,0.92,0.81,0.98,,,,,,,,,,,,,,,,
missense_variant,PIKFYVE,MISSENSE,NM_015040.3:p.Leu932Ser/c.2795T>C,tTg/tCg,MODERATE,,0.911741,0.9405,rs2363468,0.78(T),"0.0,0.0(B,B)",-0.805(N),-0.9557(T),,chr2,209190330,209190330,T,C,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu932Ser/c.2795T>C|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9162,0.9769,0.995,0.92,0.81,0.98,,0.178059(N),0.000(P),"1.72,1.89(T,T)",0.0000(T),0.031,-0.884422,6.07,5.19,-0.128000,1.598000,1.176000,0.895000,0.946000,0.267000,6.8108
missense_variant,PIKFYVE,MISSENSE,NM_015040.3:p.Gln995Leu/c.2984A>T,cAg/cTg,MODERATE,,0.911542,0.9395,rs893254,0.3(T),"0.001,0.014(B,B)",1.1(L),-1.0063(T),,chr2,209190519,209190519,A,T,hom,missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln995Leu/c.2984A>T|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9162,0.9769,0.995,0.92,0.81,0.98,,0.011362(N),0.000(P),"1.63,1.8(T,T)",0.0000(T),0.177,0.647806,5.44,4.24,0.528000,1.101000,0.816000,0.186000,0.352000,0.164000,12.6043
missense_variant,PIKFYVE,MISSENSE,NM_015040.3:p.Thr998Ser/c.2993C>G,aCt/aGt,MODERATE,,0.912141,0.9395,rs893253,0.81(T),"0.001,0.01(B,B)",0.345(N),-0.9966(T),,chr2,209190528,209190528,C,G,hom,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr998Ser/c.2993C>G|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9162,0.9769,0.995,0.92,0.81,0.98,,0.029231(N),1.000(P),"1.68,1.86(T,T)",0.0000(T),0.015,-1.978853,5.92,-1.75,-0.782000,-0.278000,0.250000,0.012000,0.000000,0.002000,3.691
missense_variant,PIKFYVE,MISSENSE,NM_015040.3:p.Gln1183Lys/c.3547C>A,Caa/Aaa,MODERATE,,0.911542,0.9395,rs1529979,,"0.0,0.0(B,B)",-1.7(N),-0.9615(T),,chr2,209191082,209191082,C,A,hom,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln1183Lys/c.3547C>A|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9162,0.9769,0.995,0.92,0.81,0.98,,0.000443(N),0.057(P),"1.7,1.89(T,T)",0.0000(T),0.03,-1.003359,5.84,4.65,-0.256000,1.039000,2.575000,0.614000,0.900000,0.998000,13.0868
synonymous_variant,PIKFYVE,SILENT,NM_015040.3:p.Asn1188Asn/c.3564T>C,aaT/aaC,LOW,,0.996006,1,rs1529978,,,,,,chr2,209191099,209191099,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1188Asn/c.3564T>C|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PIKFYVE,SILENT,NM_015040.3:p.Thr1778Thr/c.5334G>A,acG/acA,LOW,,0.716054,0.9117,rs2304545,,,,,,chr2,209212707,209212707,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1778Thr/c.5334G>A|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8303,0.8386,0.8658,0.68,0.38,0.84,,,,,,,,,,,,,,,,
synonymous_variant,PIKFYVE,SILENT,NM_015040.3:p.Thr1799Thr/c.5397A>G,acA/acG,LOW,,0.911142,0.9395,rs2118297,,,,,,chr2,209214770,209214770,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1799Thr/c.5397A>G|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|36|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9162,0.9769,0.995,0.92,0.81,0.98,,,,,,,,,,,,,,,,
synonymous_variant,PIKFYVE,SILENT,NM_015040.3:p.Glu1842Glu/c.5526A>G,gaA/gaG,LOW,,0.911142,0.9395,rs994697,,,,,,chr2,209215586,209215586,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1842Glu/c.5526A>G|2098|PIKFYVE|protein_coding|CODING|NM_015040.3|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9162,0.9769,0.995,0.92,0.81,0.98,,,,,,,,,,,,,,,,
synonymous_variant,PTH2R,SILENT,NM_005048.3:p.Asn432Asn/c.1296C>T,aaC/aaT,LOW,,0.741014,0.5417,rs3820900,,,,,,chr2,209358027,209358027,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn432Asn/c.1296C>T|550|PTH2R|protein_coding|CODING|NM_005048.3|13|1),non_coding_exon_variant(MODIFIER|||n.1615C>T||PTH2R||CODING|NR_073601.1|13|1)","GM12878:H3K27me3,HepG2:H3K27me3",,,,0.6953,0.8127,0.7753,0.81,0.86,0.78,,,,,,,,,,,,,,,,
synonymous_variant,UNC80,SILENT,NM_032504.1:p.Gln2957Gln/c.8871G>A,caG/caA,LOW,,0.645767,0.6111,rs2075117,,,,,,chr2,210843383,210843383,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln2957Gln/c.8871G>A|3258|UNC80|protein_coding|CODING|NM_032504.1|58|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln2952Gln/c.8856G>A|3234|UNC80|protein_coding|CODING|NM_182587.3|58|1)",HUVEC:H3K27me3,,,,0.6585,0.6398,0.67,0.63,0.63,0.63,,,,,,,,,,,,,,,,
missense_variant,CPS1,MISSENSE,NM_001122633.2:p.Thr350Ala/c.1048A>G,Acc/Gcc,MODERATE,COSM4133424(1),,,rs1047883,0.04(D),0.006(B),2.025(M),-0.9027(T),,chr2,211456637,211456637,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr350Ala/c.1048A>G|1506|CPS1|protein_coding|CODING|NM_001122633.2|11|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr344Ala/c.1030A>G|1500|CPS1|protein_coding|CODING|NM_001875.4|10|1),upstream_gene_variant(MODIFIER||1442||1049|CPS1|protein_coding|CODING|NM_001122634.2||1)","HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000116829.2|RCV000124588.1,,,,,0.59,0.64,0.57,,0.000829(N),0.000(P),"-2.59,-2.59(D,D)",0.0000(T),0.076,1.454970,5.77,-0.92,-0.790000,-0.609000,0.253000,0.683000,0.154000,0.805000,12.8582
synonymous_variant,CPS1,SILENT,NM_001122633.2:p.Thr350Thr/c.1050C>T,acC/acT,LOW,,0.591254,0.5585,rs2229589,,,,,,chr2,211456639,211456639,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr350Thr/c.1050C>T|1506|CPS1|protein_coding|CODING|NM_001122633.2|11|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr344Thr/c.1032C>T|1500|CPS1|protein_coding|CODING|NM_001875.4|10|1),upstream_gene_variant(MODIFIER||1440||1049|CPS1|protein_coding|CODING|NM_001122634.2||1)","HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000116830.2|RCV000124589.1,,0.6196,0.4914,0.5646,0.60,0.66,0.57,,,,,,,,,,,,,,,,
synonymous_variant,CPS1,SILENT,NM_001122633.2:p.Gly899Gly/c.2697C>G,ggC/ggG,LOW,,0.649161,0.5248,rs2287599,,,,,,chr2,211481257,211481257,C,G,hom,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly899Gly/c.2697C>G|1506|CPS1|protein_coding|CODING|NM_001122633.2|22|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly442Gly/c.1326C>G|1049|CPS1|protein_coding|CODING|NM_001122634.2|11|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly893Gly/c.2679C>G|1500|CPS1|protein_coding|CODING|NM_001875.4|21|1),upstream_gene_variant(MODIFIER||1038|||CPS1-IT1||NON_CODING|NR_002763.2||1)",,,RCV000116831.2|RCV000124592.1,,0.636,0.4885,0.5537,0.66,0.86,0.56,,,,,,,,,,,,,,,,
missense_variant,CPS1,MISSENSE,NM_001122633.2:p.Thr1412Asn/c.4235C>A,aCc/aAc,MODERATE,COSM4001490(1),0.288538,0.1389,rs1047891,0.25(T),"0.025,0.025(B,B)",1.53(L),-1.0725(T),,chr2,211540507,211540507,C,A,het,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr1412Asn/c.4235C>A|1506|CPS1|protein_coding|CODING|NM_001122633.2|37|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr955Asn/c.2864C>A|1049|CPS1|protein_coding|CODING|NM_001122634.2|26|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr1406Asn/c.4217C>A|1500|CPS1|protein_coding|CODING|NM_001875.4|36|1)",HeLa-S3:H3K36me3,"Homocysteine_levels,Chronic_kidney_disease,Homocysteine_levels,Fibrinogen",RCV000116832.2|RCV000124594.1,,0.2832,0.3429,0.3012,0.33,0.36,0.31,,0.003423(N),0.639(P),"-1.67,-1.67,-1.67(D,D,D)",0.0000(T),0.074,2.413514,6.08,5.2,0.591000,1.580000,1.756000,0.981000,1.000000,0.977000,9.5512
synonymous_variant,ERBB4,SILENT,NM_005235.2:p.Val1065Val/c.3195A>G,gtA/gtG,LOW,COSM3757924(2),0.223043,0.2887,rs3748962,,,,,,chr2,212251864,212251864,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1049Val/c.3147A>G|1292|ERBB4|protein_coding|CODING|NM_001042599.1|26|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1065Val/c.3195A>G|1308|ERBB4|protein_coding|CODING|NM_005235.2|27|1)",,,,,0.2229,0.2983,0.2992,0.25,0.10,0.33,,,,,,,,,,,,,,,,
missense_variant,SPAG16,MISSENSE,NM_024532.4:p.Gln361His/c.1083A>C,caA/caC,MODERATE,COSM149057(3),0.384185,0.501,rs2042791,0.38(T),"0.0,0.0,0.0(B,B,B)",-1.935(N),-0.9073(T),,chr2,214727221,214727221,A,C,het,"missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln361His/c.1083A>C|631|SPAG16|protein_coding|CODING|NM_024532.4|11|1),non_coding_exon_variant(MODIFIER|||n.1363A>C||SPAG16||CODING|NR_047659.1|13|1),non_coding_exon_variant(MODIFIER|||n.1069A>C||SPAG16||CODING|NR_047660.1|10|1)",,,,,0.5102,0.4006,0.3688,0.33,0.23,0.38,,0.008011(N),0.000(P),"0.37,0.37,0.37(T,T,T)",0.0000(T),0.185,-1.962849,5.74,-1.4,-0.756000,-0.330000,-0.692000,0.004000,0.906000,0.352000,7.967
synonymous_variant,BARD1,SILENT,NM_000465.3:p.His506His/c.1518T>C,caT/caC,LOW,,0.770567,0.9484,rs2070093,,,,,,chr2,215632256,215632256,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His506His/c.1518T>C|777|BARD1|protein_coding|CODING|NM_000465.3|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His487His/c.1461T>C|758|BARD1|protein_coding|CODING|NM_001282543.1|5|1),intron_variant(MODIFIER|||c.364+24765T>C|264|BARD1|protein_coding|CODING|NM_001282549.1|3|1),intron_variant(MODIFIER|||c.216-14977T>C|326|BARD1|protein_coding|CODING|NM_001282545.1|2|1),intron_variant(MODIFIER|||c.159-14977T>C|307|BARD1|protein_coding|CODING|NM_001282548.1|1|1),non_coding_exon_variant(MODIFIER|||n.1511T>C||BARD1||CODING|NR_104212.1|5|1),non_coding_exon_variant(MODIFIER|||n.1454T>C||BARD1||CODING|NR_104215.1|4|1),non_coding_exon_variant(MODIFIER|||n.710T>C||BARD1||CODING|NR_104216.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8384,0.7594,0.8181,0.71,0.58,0.78,,,,,,,,,,,,,,,,
missense_variant,BARD1,MISSENSE,NM_000465.3:p.Arg378Ser/c.1134G>C,agG/agC,MODERATE,COSM3757932(3),0.459265,0.3413,rs2229571,0.77(T),"0.005,0.015(B,B)",1.3(L),-0.9215(T),,chr2,215645464,215645464,C,G,het,"missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg378Ser/c.1134G>C|777|BARD1|protein_coding|CODING|NM_000465.3|4|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg359Ser/c.1077G>C|758|BARD1|protein_coding|CODING|NM_001282543.1|3|1),intron_variant(MODIFIER|||c.364+11557G>C|264|BARD1|protein_coding|CODING|NM_001282549.1|3|1),intron_variant(MODIFIER|||c.215+16321G>C|326|BARD1|protein_coding|CODING|NM_001282545.1|2|1),intron_variant(MODIFIER|||c.159-28185G>C|307|BARD1|protein_coding|CODING|NM_001282548.1|1|1),intron_variant(MODIFIER|||n.507-11428G>C||BARD1||CODING|NR_104216.1|3|1),non_coding_exon_variant(MODIFIER|||n.1127G>C||BARD1||CODING|NR_104212.1|3|1),non_coding_exon_variant(MODIFIER|||n.1070G>C||BARD1||CODING|NR_104215.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4796,0.4914,0.6412,0.53,0.40,0.60,,0.078647(N),1.000(P),"-0.67,-0.04(T,T)",0.0000(T),0.294,1.450728,5.28,-1.03,0.655000,0.096000,-0.601000,0.019000,0.217000,0.000000,2.5314
missense_variant,ABCA12,MISSENSE,NM_173076.2:p.Ile1409Val/c.4225A>G,Atc/Gtc,MODERATE,,0.00179712,0,rs149610963,0.33(T),"0.209,0.055(B,B)",0.7(N),-0.0305(T),,chr2,215848528,215848528,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1091Val/c.3271A>G|2277|ABCA12|protein_coding|CODING|NM_015657.3|21|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1409Val/c.4225A>G|2595|ABCA12|protein_coding|CODING|NM_173076.2|29|1),non_coding_exon_variant(MODIFIER|||n.4525A>G||ABCA12||CODING|NR_103740.1|31|1)",NHEK:H3K36me3,,,,0.0031,0.0043,0.003,0.01,0.00,0.01,,0.000363(D),1.000(D),"-3.32,-3.32(D,D)",0.5718(D),0.238,3.036668,6.06,4.9,0.528000,1.088000,5.175000,0.971000,0.997000,1.000000,13.4939
missense_variant,ABCA12,MISSENSE,NM_173076.2:p.Ser777Thr/c.2329T>A,Tcc/Acc,MODERATE,,0.998403,1,rs7560008,0.76(T),"0.001,0.007(B,B)",0.795(N),-0.9998(T),,chr2,215876166,215876166,A,T,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser459Thr/c.1375T>A|2277|ABCA12|protein_coding|CODING|NM_015657.3|9|1),missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser777Thr/c.2329T>A|2595|ABCA12|protein_coding|CODING|NM_173076.2|17|1),non_coding_exon_variant(MODIFIER|||n.2573T>A||ABCA12||CODING|NR_103740.1|18|1)",NHEK:H3K36me3,,,,1,0.9986,1,1.00,0.99,1.00,,0.974798(N),0.980(P),"2.75,2.75(T,T)",0.0000(T),0.022,-1.923001,5.25,-2.88,-0.257000,-0.586000,-1.411000,0.001000,0.071000,0.016000,4.4551
synonymous_variant,ABCA12,SILENT,NM_173076.2:p.Val296Val/c.888G>A,gtG/gtA,LOW,COSM50991(2),0.223442,0.4127,rs17501837,,,,,,chr2,215901774,215901774,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val296Val/c.888G>A|2595|ABCA12|protein_coding|CODING|NM_173076.2|8|1),non_coding_exon_variant(MODIFIER|||n.1132G>A||ABCA12||CODING|NR_103740.1|9|1)",,,,,0.1421,0.2565,0.2058,0.19,0.15,0.21,,,,,,,,,,,,,,,,
missense_variant,ATIC,MISSENSE,NM_004044.6:p.Thr116Ser/c.347C>G,aCt/aGt,MODERATE,COSM3757936(1),0.277756,0.2927,rs2372536,0.35(T),"0.004,0.004(B,B)",1.575(L),-1.0972(T),,chr2,216190020,216190020,C,G,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr116Ser/c.347C>G|592|ATIC|protein_coding|CODING|NM_004044.6|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4928,0.3084,0.3161,0.25,0.10,0.32,,0.000000(N),0.000(P),"-1.45,-1.45,-1.45,-1.45(T,T,T,T)",0.0000(T),0.406,3.070943,5.87,5.87,0.655000,2.941000,5.856000,0.451000,0.921000,1.000000,20.1777
synonymous_variant,FN1,SILENT,NM_212482.1:p.Tyr2387Tyr/c.7161T>C,taT/taC,LOW,COSM442286(2),0.282748,0.2986,rs11651,,,,,,chr2,216229692,216229692,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr2265Tyr/c.6795T>C|2355|FN1|protein_coding|CODING|NM_002026.2|44|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr2086Tyr/c.6258T>C|2176|FN1|protein_coding|CODING|NM_212474.1|42|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr2206Tyr/c.6618T>C|2296|FN1|protein_coding|CODING|NM_212476.1|42|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr2240Tyr/c.6720T>C|2330|FN1|protein_coding|CODING|NM_212478.1|44|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr2387Tyr/c.7161T>C|2477|FN1|protein_coding|CODING|NM_212482.1|44|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.3127,0.3141,0.25,0.10,0.32,,,,,,,,,,,,,,,,
missense_variant,FN1,MISSENSE,NM_212482.1:p.Val2261Ile/c.6781G>A,Gtc/Atc,MODERATE,,0.9998,1,rs1250209,1(T),"0.002,0.002,0.004,0.002,0.003,0.005,0.02,0.005,0.002,0.002,0.003,0.005(B,B,B,B,B,B,B,B,B,B,B,B)",-0.795(N),-0.9282(T),,chr2,216235089,216235089,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val2139Ile/c.6415G>A|2355|FN1|protein_coding|CODING|NM_002026.2|41|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1960Ile/c.5878G>A|2176|FN1|protein_coding|CODING|NM_212474.1|39|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val2080Ile/c.6238G>A|2296|FN1|protein_coding|CODING|NM_212476.1|39|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val2114Ile/c.6340G>A|2330|FN1|protein_coding|CODING|NM_212478.1|41|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val2261Ile/c.6781G>A|2477|FN1|protein_coding|CODING|NM_212482.1|41|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000002(N),0.000(P),"0.29,0.29,0.29,0.29,0.29,0.29,0.29,0.29,0.29,0.29,0.29,0.29(T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.253,0.924924,5.6,5.6,-0.521000,0.960000,3.798000,0.974000,1.000000,1.000000,11.6505
synonymous_variant,FN1,SILENT,NM_212482.1:p.Gly1897Gly/c.5691A>T,ggA/ggT,LOW,COSM149058(1),0.324681,0.7659,rs1132741,,,,,,chr2,216242917,216242917,T,A,het,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly1806Gly/c.5418A>T|2355|FN1|protein_coding|CODING|NM_002026.2|34|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly1716Gly/c.5148A>T|2176|FN1|protein_coding|CODING|NM_212474.1|33|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly1716Gly/c.5148A>T|2296|FN1|protein_coding|CODING|NM_212476.1|33|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly1806Gly/c.5418A>T|2330|FN1|protein_coding|CODING|NM_212478.1|34|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly1897Gly/c.5691A>T|2477|FN1|protein_coding|CODING|NM_212482.1|35|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2566,0.3919,0.2505,0.19,0.09,0.24,,,,,,,,,,,,,,,,
synonymous_variant,FN1,SILENT,NM_212482.1:p.Glu1575Glu/c.4725G>A,gaG/gaA,LOW,,0.86861,0.999,rs13652,,,,,,chr2,216249587,216249587,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1484Glu/c.4452G>A|2355|FN1|protein_coding|CODING|NM_002026.2|28|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1484Glu/c.4452G>A|2176|FN1|protein_coding|CODING|NM_212474.1|28|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1484Glu/c.4452G>A|2296|FN1|protein_coding|CODING|NM_212476.1|28|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1484Glu/c.4452G>A|2330|FN1|protein_coding|CODING|NM_212478.1|28|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1575Glu/c.4725G>A|2477|FN1|protein_coding|CODING|NM_212482.1|29|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8262,0.8934,0.8787,0.85,0.80,0.87,,,,,,,,,,,,,,,,
synonymous_variant,FN1,SILENT,NM_212482.1:p.Pro1052Pro/c.3156A>C,ccA/ccC,LOW,,0.286741,0.0645,rs1053238,,,,,,chr2,216269209,216269209,T,G,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1052Pro/c.3156A>C|2355|FN1|protein_coding|CODING|NM_002026.2|20|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1052Pro/c.3156A>C|2176|FN1|protein_coding|CODING|NM_212474.1|20|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1052Pro/c.3156A>C|2296|FN1|protein_coding|CODING|NM_212476.1|20|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1052Pro/c.3156A>C|2330|FN1|protein_coding|CODING|NM_212478.1|20|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1052Pro/c.3156A>C|2477|FN1|protein_coding|CODING|NM_212482.1|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5276,0.2997,0.3777,0.35,0.24,0.40,,,,,,,,,,,,,,,,
synonymous_variant,FN1,SILENT,NM_212482.1:p.Gly1037Gly/c.3111A>C,ggA/ggC,LOW,,0.286941,0.0645,rs7589580,,,,,,chr2,216269254,216269254,T,G,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1037Gly/c.3111A>C|2355|FN1|protein_coding|CODING|NM_002026.2|20|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1037Gly/c.3111A>C|2176|FN1|protein_coding|CODING|NM_212474.1|20|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1037Gly/c.3111A>C|2296|FN1|protein_coding|CODING|NM_212476.1|20|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1037Gly/c.3111A>C|2330|FN1|protein_coding|CODING|NM_212478.1|20|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1037Gly/c.3111A>C|2477|FN1|protein_coding|CODING|NM_212482.1|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5276,0.2997,0.3787,0.35,0.24,0.40,,,,,,,,,,,,,,,,
missense_variant,FN1,MISSENSE,NM_212482.1:p.Thr817Pro/c.2449A>C,Acg/Ccg,MODERATE,,0.9998,1,rs2577301,0.06(T),"0.0,0.0,0.001,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B,B,B)",0.345(N),-0.9569(T),,chr2,216272900,216272900,T,G,hom,"missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr817Pro/c.2449A>C|2355|FN1|protein_coding|CODING|NM_002026.2|17|1),missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr817Pro/c.2449A>C|2176|FN1|protein_coding|CODING|NM_212474.1|17|1),missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr817Pro/c.2449A>C|2296|FN1|protein_coding|CODING|NM_212476.1|17|1),missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr817Pro/c.2449A>C|2330|FN1|protein_coding|CODING|NM_212478.1|17|1),missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr817Pro/c.2449A>C|2477|FN1|protein_coding|CODING|NM_212482.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000104(N),0.000(P),"0.51,0.51,0.51,0.51,0.51,0.51,0.51,0.51,0.51,0.51,0.51,0.51,0.51(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.171,2.031761,5.93,5.93,-0.121000,1.534000,4.979000,0.029000,0.815000,1.000000,16.7419
synonymous_variant,FN1,SILENT,NM_212482.1:p.Pro814Pro/c.2442T>A,ccT/ccA,LOW,,0.421526,0.9306,rs7596677,,,,,,chr2,216272907,216272907,A,T,het,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro814Pro/c.2442T>A|2355|FN1|protein_coding|CODING|NM_002026.2|17|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro814Pro/c.2442T>A|2176|FN1|protein_coding|CODING|NM_212474.1|17|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro814Pro/c.2442T>A|2296|FN1|protein_coding|CODING|NM_212476.1|17|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro814Pro/c.2442T>A|2330|FN1|protein_coding|CODING|NM_212478.1|17|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro814Pro/c.2442T>A|2477|FN1|protein_coding|CODING|NM_212482.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2822,0.4697,0.2783,0.25,0.23,0.26,,,,,,,,,,,,,,,,
missense_variant,FN1,MISSENSE,NM_212482.1:p.Gln15Leu/c.44A>T,cAg/cTg,MODERATE,COSM3757940(2),0.795128,0.9246,rs1250259,1(T),"0.0,0.0,0.0,0.007,0.0,0.0,0.009,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B,B,B,B)",-2.015(N),-0.9610(T),,chr2,216300482,216300482,T,A,het,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln15Leu/c.44A>T|2355|FN1|protein_coding|CODING|NM_002026.2|1|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln15Leu/c.44A>T|657|FN1|protein_coding|CODING|NM_054034.2|1|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln15Leu/c.44A>T|2176|FN1|protein_coding|CODING|NM_212474.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln15Leu/c.44A>T|2296|FN1|protein_coding|CODING|NM_212476.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln15Leu/c.44A>T|2330|FN1|protein_coding|CODING|NM_212478.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln15Leu/c.44A>T|2477|FN1|protein_coding|CODING|NM_212482.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,GM12878:Pbx3,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.5542,0.7853,0.7674,0.79,0.87,0.75,,0.087602(N),1.000(P),"1.28,2.58,2.83,1.37,2.88,2.55,2.86,2.55,2.84,2.56,2.06,1.31,1.97,1.92(T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.109,0.764126,5.35,5.35,-0.346000,0.873000,3.387000,0.540000,0.950000,1.000000,11.4744
missense_variant,MREG,MISSENSE,NM_018000.2:p.Gly15Arg/c.43G>C,Ggg/Cgg,MODERATE,COSM442291(2),0.677117,0.6806,rs1864253,0.26(T),0.0(B),0.69(N),-0.9590(T),,chr2,216878008,216878008,C,G,het,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly15Arg/c.43G>C|214|MREG|protein_coding|CODING|NM_018000.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:TFIIIC-110,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,GM12878:ZEB1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.6094,0.7248,0.6402,0.68,0.74,0.65,,0.875791(N),0.000(P),0.99(T),0.0000(T),0.084,0.789879,3.71,3.71,-0.357000,0.914000,0.005000,0.149000,0.389000,0.018000,9.3886
synonymous_variant,PECR,SILENT,NM_018441.5:p.Ser258Ser/c.774G>A,tcG/tcA,LOW,COSM149060(3),0.140375,0.12,rs2303842,,,,,,chr2,216908679,216908679,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser258Ser/c.774G>A|303|PECR|protein_coding|CODING|NM_018441.5|7|1),"H1ESC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1922,0.1455,0.2346,0.19,0.08,0.25,,,,,,,,,,,,,,,,
synonymous_variant,XRCC5,SILENT,NM_021141.3:p.Phe491Phe/c.1473T>C,ttT/ttC,LOW,,0.00259585,0,rs41257924,,,,,,chr2,217006039,217006039,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe491Phe/c.1473T>C|732|XRCC5|protein_coding|CODING|NM_021141.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0029,0.003,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,XRCC5,SILENT,NM_021141.3:p.Thr524Thr/c.1572A>G,acA/acG,LOW,,0.882788,0.9296,rs207906,,,,,,chr2,217012901,217012901,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr524Thr/c.1572A>G|732|XRCC5|protein_coding|CODING|NM_021141.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8282,0.9049,0.8748,0.87,0.88,0.87,,,,,,,,,,,,,,,,
synonymous_variant,MARCH4,SILENT,NM_020814.2:p.Ser184Ser/c.552G>T,tcG/tcT,LOW,,0.435903,0.4345,rs876771,,,,,,chr2,217148417,217148417,C,A,het,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser184Ser/c.552G>T|410|MARCH4|protein_coding|CODING|NM_020814.2|2|1),"NHEK:CTCF,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.546,0.4308,0.493,0.43,0.33,0.48,,,,,,,,,,,,,,,,
synonymous_variant,IGFBP5,SILENT,NM_000599.3:p.Lys237Lys/c.711A>G,aaA/aaG,LOW,,0.978634,1,rs2160549,,,,,,chr2,217541582,217541582,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys237Lys/c.711A>G|272|IGFBP5|protein_coding|CODING|NM_000599.3|4|1),"HUVEC:H3K27me3,NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9885,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,IGFBP5,SILENT,NM_000599.3:p.Ala169Ala/c.507C>T,gcC/gcT,LOW,COSM3757943(1),0.048123,0.004,rs11575195,,,,,,chr2,217543633,217543633,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala169Ala/c.507C>T|272|IGFBP5|protein_coding|CODING|NM_000599.3|2|1),"NH-A:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0491,0.0173,0.0308,0.05,0.09,0.03,,,,,,,,,,,,,,,,
missense_variant,TNS1,MISSENSE,NM_022648.4:p.Val1604Ile/c.4810G>A,Gtc/Atc,MODERATE,,0.610224,0.505,rs918949,0.62(T),"0.003,0.003,0.002(B,B,B)",-1.69(N),-0.9343(T),,chr2,218674697,218674697,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1604Ile/c.4810G>A|1735|TNS1|protein_coding|CODING|NM_022648.4|30|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4898,0.5922,0.5865,0.66,0.77,0.61,,0.029377(N),0.000(P),"0.97,0.97,0.97,0.97(T,T,T,T)",0.0000(T),0.085,-0.727836,4.44,-4.71,-0.401000,-1.539000,0.655000,0.728000,0.368000,1.000000,15.3963
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Ser1423Ser/c.4269T>C,agT/agC,LOW,,0.376797,0.246,rs12694422,,,,,,chr2,218682474,218682474,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1423Ser/c.4269T>C|1735|TNS1|protein_coding|CODING|NM_022648.4|24|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4131,0.428,0.4056,0.41,0.39,0.41,,,,,,,,,,,,,,,,
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Gly1324Gly/c.3972T>C,ggT/ggC,LOW,,0.332867,0.246,rs3796026,,,,,,chr2,218682771,218682771,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1324Gly/c.3972T>C|1735|TNS1|protein_coding|CODING|NM_022648.4|24|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.411,0.4121,0.4056,0.34,0.23,0.40,,,,,,,,,,,,,,,,
missense_variant,TNS1,MISSENSE,NM_022648.4:p.Pro1202Ser/c.3604C>T,Ccc/Tcc,MODERATE,COSM3757945(2),0.0662939,0.0169,rs34291329,0.68(T),"0.001,0.001,0.001(B,B,B)",1.355(L),-0.8534(T),,chr2,218683139,218683139,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro1202Ser/c.3604C>T|1735|TNS1|protein_coding|CODING|NM_022648.4|24|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1145,0.0591,0.0934,0.07,0.05,0.08,,0.467518(N),0.000(P),"-2.76,2.24,-2.77,-2.77(D,T,D,D)",0.0324(T),0.072,-0.317753,4.61,1.8,0.563000,0.190000,0.330000,0.806000,0.363000,0.275000,4.9661
missense_variant,TNS1,MISSENSE,NM_022648.4:p.Trp1197Arg/c.3589T>C,Tgg/Cgg,MODERATE,,0.658946,0.621,rs2571445,0.82(T),"0.0,0.0,0.0(B,B,B)",-1.355(N),-0.9451(T),,chr2,218683154,218683154,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1197Arg/c.3589T>C|1735|TNS1|protein_coding|CODING|NM_022648.4|24|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3","Pulmonary_function_interaction,Pulmonary_function",,,0.5603,0.6167,0.5905,0.68,0.80,0.61,,0.043060(N),0.000(P),"-2.55,2.52,-2.55,-2.56(D,T,D,D)",0.0000(T),0.087,-1.210360,4.61,3.71,-0.213000,0.552000,1.368000,0.702000,0.928000,0.963000,7.287
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Ala1162Ala/c.3486T>C,gcT/gcC,LOW,COSM4133431(1),0.402556,0.246,rs2571442,,,,,,chr2,218683257,218683257,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1162Ala/c.3486T>C|1735|TNS1|protein_coding|CODING|NM_022648.4|24|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4121,0.4294,0.4066,0.43,0.46,0.41,,,,,,,,,,,,,,,,
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Pro1125Pro/c.3375G>A,ccG/ccA,LOW,COSM442299(3),0.215256,0.2292,rs34144104,,,,,,chr2,218683368,218683368,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1125Pro/c.3375G>A|1735|TNS1|protein_coding|CODING|NM_022648.4|24|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.2822,0.3156,0.2654,0.23,0.09,0.30,,,,,,,,,,,,,,,,
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Ala853Ala/c.2559G>A,gcG/gcA,LOW,COSM3766536(2),0.434505,0.3442,rs1004814,,,,,,chr2,218712306,218712306,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala853Ala/c.2559G>A|1735|TNS1|protein_coding|CODING|NM_022648.4|17|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4468,0.3141,0.3499,0.40,0.56,0.31,,,,,,,,,,,,,,,,
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Ser753Ser/c.2259C>T,tcC/tcT,LOW,,0.435104,0.3442,rs1364641,,,,,,chr2,218712606,218712606,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser753Ser/c.2259C>T|1735|TNS1|protein_coding|CODING|NM_022648.4|17|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4489,0.3156,0.3499,0.40,0.56,0.31,,,,,,,,,,,,,,,,
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Asn713Asn/c.2139T>C,aaT/aaC,LOW,COSM4001498(1),0.435703,0.3452,rs1364642,,,,,,chr2,218712726,218712726,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn713Asn/c.2139T>C|1735|TNS1|protein_coding|CODING|NM_022648.4|17|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4499,0.3156,0.3499,0.40,0.56,0.31,,,,,,,,,,,,,,,,
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Ser649Ser/c.1947G>A,tcG/tcA,LOW,COSM3766538(2),0.646965,0.6429,rs3796031,,,,,,chr2,218712918,218712918,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser649Ser/c.1947G>A|1735|TNS1|protein_coding|CODING|NM_022648.4|17|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.6575,0.5778,0.4463,0.54,0.76,0.43,,,,,,,,,,,,,,,,
synonymous_variant,TNS1,SILENT,NM_022648.4:p.Val643Val/c.1929G>A,gtG/gtA,LOW,COSM3766539(1),0.434904,0.3442,rs3796032,,,,,,chr2,218712936,218712936,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val643Val/c.1929G>A|1735|TNS1|protein_coding|CODING|NM_022648.4|17|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4479,0.3156,0.3499,0.39,0.56,0.31,,,,,,,,,,,,,,,,
missense_variant,TNS1,MISSENSE,NM_022648.4:p.Thr528Ile/c.1583C>T,aCc/aTc,MODERATE,COSM4001499(1),0.413339,0.2937,rs3796033,0.27(T),"0.008,0.164,0.162,0.122(B,B,B,B)",1.245(L),-0.9056(T),,chr2,218713282,218713282,G,A,hom,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr528Ile/c.1583C>T|1735|TNS1|protein_coding|CODING|NM_022648.4|17|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4325,0.3055,0.3459,0.39,0.54,0.31,,0.036961(N),0.000(P),"-2.86,-2.86,-2.87,-3.37(D,D,D,D)",0.0000(T),0.463,1.934427,4.49,2.37,0.561000,0.447000,2.711000,0.978000,1.000000,0.997000,7.2402
synonymous_variant,CXCR2,SILENT,NM_001168298.1:p.Leu262Leu/c.786C>T,ctC/ctT,LOW,COSM149065(3),0.51238,0.3175,rs2230054,,,,,,chr2,219000310,219000310,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu262Leu/c.786C>T|360|CXCR2|protein_coding|CODING|NM_001168298.1|4|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu262Leu/c.786C>T|360|CXCR2|protein_coding|CODING|NM_001557.3|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4744,0.5072,0.4602,0.55,0.65,0.50,,,,,,,,,,,,,,,,
synonymous_variant,TMBIM1,SILENT,NM_022152.4:p.Pro282Pro/c.846C>G,ccC/ccG,LOW,COSM3757952(1),0.332069,0.379,rs2292550,,,,,,chr2,219140288,219140288,G,C,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro282Pro/c.846C>G|311|TMBIM1|protein_coding|CODING|NM_022152.4|12|1),intron_variant(MODIFIER|||c.236+4016G>C|385|PNKD|protein_coding|CODING|NM_015488.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3681,0.402,0.3708,0.36,0.27,0.41,,,,,,,,,,,,,,,,
synonymous_variant,TMBIM1,SILENT,NM_022152.4:p.Ala79Ala/c.237A>G,gcA/gcG,LOW,,0.993411,1,rs2045435,,,,,,chr2,219144815,219144815,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala79Ala/c.237A>G|311|TMBIM1|protein_coding|CODING|NM_022152.4|3|1),downstream_gene_variant(MODIFIER||33|||MIR6513||NON_CODING|NR_106768.1||1),intron_variant(MODIFIER|||c.236+8543T>C|385|PNKD|protein_coding|CODING|NM_015488.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CATIP,SILENT,NM_198559.1:p.Ser18Ser/c.54G>A,tcG/tcA,LOW,,0.11861,0.1032,rs4324314,,,,,,chr2,219221846,219221846,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser18Ser/c.54G>A|387|CATIP|protein_coding|CODING|NM_198559.1|2|1),"HepG2:H3K4me2,CD4:H2BK20ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HepG2:H3K27me3",,,,0.0562,0.2421,0.2117,0.17,0.07,0.22,,,,,,,,,,,,,,,,
synonymous_variant,CATIP,SILENT,NM_198559.1:p.Pro272Pro/c.816C>T,ccC/ccT,LOW,,0.993211,1,rs3845833,,,,,,chr2,219231807,219231807,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro272Pro/c.816C>T|387|CATIP|protein_coding|CODING|NM_198559.1|8|1),intron_variant(MODIFIER|||n.313-57G>A||CATIP-AS1||NON_CODING|NR_110573.1|1|1)","K562:H3K4me3,K562:PolII,GM12878:H3K4me3,CD4:H2BK20ac,H1ESC:H3K27me3,CD4:H2BK120ac,HepG2:H3K27me3,K562:H3K4me2",,,,1,1,0.999,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC11A1,SILENT,NM_000578.3:p.Phe66Phe/c.198C>T,ttC/ttT,LOW,COSM3757953(2),0.167931,0.0982,rs2276631,,,,,,chr2,219249013,219249013,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe66Phe/c.198C>T|550|SLC11A1|protein_coding|CODING|NM_000578.3|3|1),"HepG2:H3K27me3,NHEK:DNase1",,,,0.1135,0.2695,0.2505,0.24,0.17,0.27,,,,,,,,,,,,,,,,
synonymous_variant,SLC11A1,SILENT,NM_000578.3:p.Ala275Ala/c.825A>G,gcA/gcG,LOW,,0.984625,1,rs2695342,,,,,,chr2,219254622,219254622,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala275Ala/c.825A>G|550|SLC11A1|protein_coding|CODING|NM_000578.3|9|1),"HepG2:H3K4me2,HepG2:ELF1,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,HepG2:HNF4A,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1",,,,1,0.9971,0.999,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CTDSP1,SILENT,NM_021198.2:p.Gly68Gly/c.204C>A,ggC/ggA,LOW,COSM3766541(1),0.16853,0.0714,rs2227251,,,,-1.0888(T),,chr2,219266423,219266423,C,A,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly68Gly/c.204C>A|260|CTDSP1|protein_coding|CODING|NM_001206878.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly68Gly/c.204C>A|261|CTDSP1|protein_coding|CODING|NM_021198.2|2|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly68Gly/c.204C>A|260|CTDSP1|protein_coding|CODING|NM_182642.2|2|1),upstream_gene_variant(MODIFIER||946|||MIR26B||NON_CODING|NR_029500.1||1)","H1ESC:H3K36me3,HepG2:H3K4me2,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.2423,0.232,0.2753,0.21,0.09,0.27,,,0.000(P),,0.0000(T),.,0.752419,5.08,-10.2,-1.910000,-3.228000,-1.017000,0.840000,0.006000,0.000000,6.4941
synonymous_variant,CTDSP1,SILENT,NM_021198.2:p.His134His/c.402C>T,caC/caT,LOW,COSM1405459(1),0.465455,0.6915,rs2227255,,,,-0.9830(T),,chr2,219267781,219267781,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His133His/c.399C>T|260|CTDSP1|protein_coding|CODING|NM_001206878.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His134His/c.402C>T|261|CTDSP1|protein_coding|CODING|NM_021198.2|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His133His/c.399C>T|260|CTDSP1|protein_coding|CODING|NM_182642.2|5|1),downstream_gene_variant(MODIFIER||336|||MIR26B||NON_CODING|NR_029500.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5849,0.5764,0.6163,0.45,0.14,0.61,,,0.000(P),,0.0000(T),.,0.434375,4.91,-2.71,-1.174000,-0.677000,-2.503000,0.863000,0.627000,0.000000,12.043
missense_variant,USP37,MISSENSE,NM_020935.2:p.Leu979Ser/c.2936T>C,tTg/tCg,MODERATE,,0.983826,1,rs6436058,0(D),"0.001,0.0(B,B)",0(N),-0.9823(T),,chr2,219319657,219319657,A,G,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu979Ser/c.2936T>C|979|USP37|protein_coding|CODING|NM_020935.2|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.97,1.00,,0.068635(N),1.000(P),"0.68,0.68,0.55,0.68(T,T,T,T)",0.0000(T),0.139,1.731429,5.61,-0.795,-1.692000,-0.242000,0.502000,0.270000,0.039000,0.788000,11.719
synonymous_variant,PLCD4,SILENT,NM_032726.3:p.Cys315Cys/c.945T>C,tgT/tgC,LOW,,0.508986,0.7827,rs612874,,,,,,chr2,219492924,219492924,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys315Cys/c.945T>C|762|PLCD4|protein_coding|CODING|NM_032726.3|7|1),HepG2:H3K27me3,,,,0.6759,0.5879,0.5934,0.44,0.16,0.57,,,,,,,,,,,,,,,,
missense_variant,ZNF142,MISSENSE,NM_001105537.2:p.Leu956His/c.2867T>A,cTt/cAt,MODERATE,COSM3757955(1),0.191494,0.0556,rs3770213,0.54(T),"0.533,0.533(P,P)",0.805(L),-0.9616(T),,chr2,219508372,219508372,A,T,het,"missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu956His/c.2867T>A|1687|ZNF142|protein_coding|CODING|NM_001105537.2|8|1),non_coding_exon_variant(MODIFIER|||n.3614T>A||ZNF142||CODING|NR_073599.1|9|1),non_coding_exon_variant(MODIFIER|||n.3447T>A||ZNF142||CODING|NR_073600.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2669,0.3271,0.3757,0.29,0.08,0.38,,0.009736(N),1.000(P),"2.53,2.53(T,T)",0.0000(T),0.077,2.960372,3.93,-1.58,0.459000,-0.052000,0.104000,0.484000,0.000000,0.000000,5.5057
missense_variant,ZNF142,MISSENSE,NM_001105537.2:p.Ser751Gly/c.2251A>G,Agt/Ggt,MODERATE,,0.764776,0.9425,rs3770214,0.63(T),"0.0,0.0(B,B)",-0.695(N),-1.0506(T),,chr2,219508988,219508988,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser751Gly/c.2251A>G|1687|ZNF142|protein_coding|CODING|NM_001105537.2|8|1),non_coding_exon_variant(MODIFIER|||n.2998A>G||ZNF142||CODING|NR_073599.1|9|1),non_coding_exon_variant(MODIFIER|||n.2831A>G||ZNF142||CODING|NR_073600.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7352,0.6614,0.6223,0.68,0.80,0.62,,0.766992(N),1.000(P),"2.83,2.83(T,T)",0.0000(T),0.006,-1.542824,5.22,1.43,-0.733000,-0.103000,0.037000,0.549000,0.199000,0.000000,5.8407
missense_variant,ZNF142,MISSENSE,NM_001105537.2:p.Ala541Ser/c.1621G>T,Gcc/Tcc,MODERATE,,0.516374,0.8194,rs2230115,0.55(T),"0.419,0.505(B,P)",1.7(L),-1.1618(T),,chr2,219509618,219509618,C,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala541Ser/c.1621G>T|1687|ZNF142|protein_coding|CODING|NM_001105537.2|8|1),non_coding_exon_variant(MODIFIER|||n.2368G>T||ZNF142||CODING|NR_073599.1|9|1),non_coding_exon_variant(MODIFIER|||n.2201G>T||ZNF142||CODING|NR_073600.1|9|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6759,0.5879,0.5934,0.44,0.17,0.58,,0.036400(N),1.000(P),"2.78,2.78(T,T)",0.0000(T),0.074,0.772438,5.95,5.08,-0.150000,1.528000,0.775000,0.485000,0.513000,0.245000,10.9014
missense_variant,STK36,MISSENSE,NM_015690.4:p.Arg583Gln/c.1748G>A,cGg/cAg,MODERATE,COSM3736240(3),0.421725,0.1429,rs1344642,0.25(T),"0.008,0.002(B,B)",0.345(N),-0.9523(T),,chr2,219555262,219555262,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg583Gln/c.1748G>A|1294|STK36|protein_coding|CODING|NM_001243313.1|14|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg583Gln/c.1748G>A|1315|STK36|protein_coding|CODING|NM_015690.4|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3262,0.4107,0.4235,0.51,0.64,0.44,,0.119992(N),1.000(P),"-0.77,-0.77,0.56,-0.77(T,T,T,T)",0.0000(T),0.111,1.270143,5.14,2.42,-0.136000,0.356000,1.646000,0.720000,0.046000,0.309000,8.0229
missense_variant,STK36,MISSENSE,NM_015690.4:p.Gly1003Asp/c.3008G>A,gGt/gAt,MODERATE,COSM1565079(3),0.189696,0.0556,rs1863704,0.25(T),"0.001,0.225,0.077(B,B,B)",0.55(N),-0.9097(T),,chr2,219562675,219562675,G,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly982Asp/c.2945G>A|1294|STK36|protein_coding|CODING|NM_001243313.1|25|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly1003Asp/c.3008G>A|1315|STK36|protein_coding|CODING|NM_015690.4|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2658,0.3285,0.3757,0.28,0.08,0.38,,0.601535(N),1.000(P),"-0.4,-0.4,-0.41,-0.4(T,T,T,T)",0.0000(T),0.438,-1.039006,5.82,2.01,-0.797000,0.122000,0.823000,0.000000,0.000000,0.000000,6.8511
missense_variant,TTLL4,MISSENSE,NM_014640.4:p.Glu34Gln/c.100G>C,Gag/Cag,MODERATE,COSM1600350(3),0.403355,0.1409,rs3731877,0.02(D),"0.159,0.159(B,B)",1.04(L),-1.0032(T),,chr2,219602499,219602499,G,C,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu34Gln/c.100G>C|1199|TTLL4|protein_coding|CODING|NM_014640.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.4222,0.4662,0.51,0.59,0.47,,0.001342(N),0.000(P),"1.75,1.75,1.75,1.75,1.75,1.75(T,T,T,T,T,T)",0.0000(T),0.194,2.754812,5.53,5.53,0.563000,2.601000,3.127000,0.444000,0.992000,0.985000,13.9947
synonymous_variant,TTLL4,SILENT,NM_014640.4:p.Pro140Pro/c.420G>A,ccG/ccA,LOW,COSM3743602(3),0.473442,0.1409,rs3731876,,,,,,chr2,219602819,219602819,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro140Pro/c.420G>A|1199|TTLL4|protein_coding|CODING|NM_014640.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.4366,0.4662,0.59,0.81,0.48,,,,,,,,,,,,,,,,
synonymous_variant,TTLL4,SILENT,NM_014640.4:p.Glu602Glu/c.1806A>G,gaA/gaG,LOW,,0.489217,0.1409,rs586194,,,,,,chr2,219610433,219610433,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu602Glu/c.1806A>G|1199|TTLL4|protein_coding|CODING|NM_014640.4|7|1),"H1ESC:H3K36me3,HMEC:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:DNase1,GM06990:H3K36me3",,,,0.3292,0.438,0.4672,0.60,0.85,0.48,,,,,,,,,,,,,,,,
missense_variant,PRKAG3,MISSENSE,NM_017431.2:p.Pro71Ala/c.211C>G,Cca/Gca,MODERATE,COSM3757956(2),0.18131,0.4018,rs692243,0.46(T),"0.778,0.124,0.058(P,B,B)",0.805(L),-1.0219(T),,chr2,219695487,219695487,G,C,het,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro71Ala/c.211C>G|489|PRKAG3|protein_coding|CODING|NM_017431.2|3|1),"GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1564,0.1758,0.1471,0.15,0.08,0.18,,0.044685(N),1.000(P),"-1.66,-1.78,-0.05,0.79(D,D,T,T)",0.0000(T),0.154,1.933641,4.78,1.91,0.655000,0.992000,1.419000,0.449000,0.091000,0.446000,5.0549
missense_variant,WNT10A,MISSENSE,NM_025216.2:p.Phe228Ile/c.682T>A,Ttt/Att,MODERATE,COSM1235675(2),0.00599042,0,rs121908120,0(D),0.989(D),2.895(M),0.4056(D),,chr2,219755011,219755011,T,A,het,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe228Ile/c.682T>A|417|WNT10A|protein_coding|CODING|NM_025216.2|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000004717.2|RCV000023529.2,,0,0.0115,0.0199,0.02,0.01,0.02,,0.000007(D),1.000(A),-1.54(D),0.5283(D),0.807,5.003310,4.46,4.46,0.533000,2.006000,7.744000,0.987000,1.000000,1.000000,13.3675
synonymous_variant,CDK5R2,SILENT,NM_003936.4:p.Gln223Gln/c.669G>A,caG/caA,LOW,COSM442330(2),0.00798722,0,rs36115038,,,,,,chr2,219825211,219825211,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln223Gln/c.669G>A|367|CDK5R2|protein_coding|CODING|NM_003936.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0,0.0144,0.0278,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,CCDC108,MISSENSE,NM_194302.3:p.Ser88Pro/c.262T>C,Tct/Cct,MODERATE,,,,rs142076391,0.06(T),"0.764,0.962,0.55(P,D,P)",0.345(N),-0.9843(T),,chr2,219903192,219903192,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser77Pro/c.229T>C|784|CCDC108|protein_coding|CODING|NM_001278295.1|4|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser23Pro/c.67T>C|730|CCDC108|protein_coding|CODING|NM_001278296.1|3|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser23Pro/c.67T>C|164|CCDC108|protein_coding|CODING|NM_152389.3|3|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser88Pro/c.262T>C|1925|CCDC108|protein_coding|CODING|NM_194302.3|4|1)","GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.00,0.00,0.00,,0.030750(N),1.000(N),"1.43,1.43,1.43,1.43,1.43,1.43,1.43,1.43,1.43,1.43(T,T,T,T,T,T,T,T,T,T)",0.1039(T),0.468,2.708679,3.95,2.75,0.533000,0.819000,0.454000,0.105000,0.013000,0.008000,6.4148
missense_variant,CCDC108,MISSENSE,NM_194302.3:p.Met66Leu/c.196A>C,Atg/Ctg,MODERATE,COSM149068(1),0.589457,0.4256,rs6736922,0.93(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9434(T),,chr2,219903258,219903258,T,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met55Leu/c.163A>C|784|CCDC108|protein_coding|CODING|NM_001278295.1|4|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met66Leu/c.196A>C|1925|CCDC108|protein_coding|CODING|NM_194302.3|4|1),initiator_codon_variant(LOW|MISSENSE|Atg/Ctg|p.Met1?/c.1A>C|730|CCDC108|protein_coding|CODING|NM_001278296.1|3|1),initiator_codon_variant(LOW|MISSENSE|Atg/Ctg|p.Met1?/c.1A>C|164|CCDC108|protein_coding|CODING|NM_152389.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6166,0.621,0.7634,0.70,0.56,0.77,,0.007629(N),1.000(P),"1.64,1.64,1.64,1.64,3.37,1.64,1.08,0.97,0.97,1.08(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.681,-0.531470,3.56,-1.96,-1.768000,-0.795000,-0.438000,0.000000,0.000000,0.000000,1.0633
synonymous_variant,CCDC108,SILENT,NM_194302.3:p.Val16Val/c.48G>A,gtG/gtA,LOW,COSM149070(2),0.585463,0.4266,rs4674354,,,,,,chr2,219903723,219903723,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val16Val/c.48G>A|1925|CCDC108|protein_coding|CODING|NM_194302.3|3|1),intron_variant(MODIFIER|||c.-42-423G>A|730|CCDC108|protein_coding|CODING|NM_001278296.1|2|1),intron_variant(MODIFIER|||c.-42-423G>A|164|CCDC108|protein_coding|CODING|NM_152389.3|2|1),intron_variant(MODIFIER|||c.72-57G>A|784|CCDC108|protein_coding|CODING|NM_001278295.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6166,0.6182,0.7634,0.69,0.55,0.77,,,,,,,,,,,,,,,,
synonymous_variant,IHH,SILENT,NM_002181.3:p.Thr376Thr/c.1128T>C,acT/acC,LOW,COSM442333(2),0.886182,0.9157,rs394452,,,,,,chr2,219920037,219920037,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr376Thr/c.1128T>C|411|IHH|protein_coding|CODING|NM_002181.3|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8252,0.8501,0.8072,0.85,0.96,0.80,,,,,,,,,,,,,,,,
synonymous_variant,IHH,SILENT,NM_002181.3:p.Pro251Pro/c.753T>C,ccT/ccC,LOW,,0.484824,0.2788,rs3731881,,,,,,chr2,219920412,219920412,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro251Pro/c.753T>C|411|IHH|protein_coding|CODING|NM_002181.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5317,0.5331,0.672,0.59,0.45,0.67,,,,,,,,,,,,,,,,
missense_variant,CNPPD1,MISSENSE,NM_015680.4:p.Leu383Pro/c.1148T>C,cTc/cCc,MODERATE,,0.995208,1,rs4674361,0.94(T),0.0(B),-0.345(N),-0.9618(T),,chr2,220037393,220037393,A,G,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu383Pro/c.1148T>C|410|CNPPD1|protein_coding|CODING|NM_015680.4|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.031318(N),1.000(P),"2.48,2.48(T,T)",0.0000(T),0.109,-0.834131,5.04,2.79,-0.733000,0.136000,0.285000,0.003000,0.002000,0.000000,8.3557
missense_variant,CNPPD1,MISSENSE,NM_015680.4:p.Leu292Pro/c.875T>C,cTc/cCc,MODERATE,COSM3933538(3),0.401957,0.2302,rs1127102,0.22(T),0.0(B),-0.345(N),-0.9619(T),,chr2,220037666,220037666,A,G,het,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu292Pro/c.875T>C|410|CNPPD1|protein_coding|CODING|NM_015680.4|8|1),"H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.402,0.6163,0.50,0.29,0.60,,0.843386(N),1.000(P),"2.43,2.43,1.48(T,T,T)",0.0000(T),0.316,-0.833693,4.11,2.22,-0.119000,0.045000,0.941000,0.033000,0.003000,0.666000,1.2749
missense_variant,CNPPD1,MISSENSE,NM_015680.4:p.Ile262Thr/c.785T>C,aTc/aCc,MODERATE,COSM4001507(2),0.410343,0.2302,rs1043160,0.47(T),0.0(B),-0.345(N),-0.9771(T),,chr2,220037756,220037756,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile262Thr/c.785T>C|410|CNPPD1|protein_coding|CODING|NM_015680.4|8|1),"H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5767,0.4063,0.6223,0.51,0.31,0.61,,0.062831(N),1.000(P),"2.47,2.47,1.51(T,T,T)",0.0000(T),0.202,-1.736839,5.18,2.24,-0.821000,0.345000,0.652000,0.359000,0.936000,0.984000,11.9911
synonymous_variant,CNPPD1,SILENT,NM_015680.4:p.Tyr81Tyr/c.243T>C,taT/taC,LOW,COSM4001508(1),0.401957,0.2302,rs1127101,,,,,,chr2,220040330,220040330,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr81Tyr/c.243T>C|410|CNPPD1|protein_coding|CODING|NM_015680.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.402,0.6163,0.50,0.29,0.60,,,,,,,,,,,,,,,,
missense_variant,FAM134A,MISSENSE,NM_024293.4:p.Pro419Gln/c.1256C>A,cCa/cAa,MODERATE,COSM4001509(1),0.407548,0.2361,rs3731900,,"0.001,0.001(B,B)",-0.345(N),-0.9466(T),,chr2,220046975,220046975,C,A,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro419Gln/c.1256C>A|543|FAM134A|protein_coding|CODING|NM_024293.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.402,0.6372,0.51,0.30,0.63,,0.563333(N),1.000(P),1.57(T),0.0000(T),0.206,0.110771,5.26,-0.369,0.655000,0.024000,-0.071000,0.535000,0.012000,0.000000,2.388
missense_variant,ZFAND2B,MISSENSE,NM_001270998.1:p.Pro71His/c.212C>A,cCc/cAc,MODERATE,COSM3757958(1),0.0135783,0.001,rs61750009,0.12(T),"0.017,0.401(B,B)",1.59(L),-0.9546(T),,chr2,220072431,220072431,C,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro71His/c.212C>A|257|ZFAND2B|protein_coding|CODING|NM_001270998.1|4|1),missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro71His/c.212C>A|257|ZFAND2B|protein_coding|CODING|NM_138802.2|3|1),intron_variant(MODIFIER|||c.151-178C>A|213|ZFAND2B|protein_coding|CODING|NM_001270999.1|3|1)","HepG2:H3K4me2,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H2BK20ac,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,HepG2:H3K27ac,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:FOXA1,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.0102,0.0288,0.0358,0.03,0.01,0.04,,0.001373(N),0.546(N),"0.98,0.98,0.97,0.96,0.98,0.96,0.97,0.98,0.98,0.96(T,T,T,T,T,T,T,T,T,T)",0.0272(T),0.081,2.569120,5.32,4.44,0.655000,1.471000,4.509000,1.000000,1.000000,1.000000,8.9394
synonymous_variant,ABCB6,SILENT,NM_005689.2:p.Leu39Leu/c.117G>A,ctG/ctA,LOW,COSM4133475(1),0.738019,0.8621,rs1109866,,,,,,chr2,220083279,220083279,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu39Leu/c.117G>A|842|ABCB6|protein_coding|CODING|NM_005689.2|1|1),downstream_gene_variant(MODIFIER||823||839|ATG9A|protein_coding|CODING|NM_001077198.2||1),downstream_gene_variant(MODIFIER||823||839|ATG9A|protein_coding|CODING|NM_024085.4||1),downstream_gene_variant(MODIFIER||823|||ATG9A||CODING|NR_104255.1||1)","CD4:H3K9me1,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HepG2:Nrsf,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Nrsf,HepG2:H3K36me3,HepG2:H3K9ac,H1ESC:Nrsf,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,K562:Nrsf,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,GM12878:Nrsf,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.8006,0.8429,0.9056,0.76,0.49,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ATG9A,SILENT,NM_001077198.2:p.Thr775Thr/c.2325T>C,acT/acC,LOW,,0.869409,0.9077,rs2276633,,,,,,chr2,220085845,220085845,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr775Thr/c.2325T>C|839|ATG9A|protein_coding|CODING|NM_001077198.2|14|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr775Thr/c.2325T>C|839|ATG9A|protein_coding|CODING|NM_024085.4|13|1),non_coding_exon_variant(MODIFIER|||n.2501T>C||ATG9A||CODING|NR_104255.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9857,0.9625,0.9821,0.89,0.69,0.99,,,,,,,,,,,,,,,,
synonymous_variant,STK16,SILENT,NM_001008910.2:p.Leu293Leu/c.879T>G,ctT/ctG,LOW,COSM4133477(1),0.971246,1,rs7601549,,,,,,chr2,220113242,220113242,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu293Leu/c.879T>G|305|STK16|protein_coding|CODING|NM_001008910.2|8|1),downstream_gene_variant(MODIFIER||1191||433|TUBA4A|protein_coding|CODING|NM_001278552.1||1),downstream_gene_variant(MODIFIER||1191||448|TUBA4A|protein_coding|CODING|NM_006000.2||1),non_coding_exon_variant(MODIFIER|||n.1301T>G||STK16||CODING|NR_026909.1|8|1)","H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1,H1ESC:CTCF",,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,DNPEP,MISSENSE,NM_012100.2:p.Val258Ala/c.773T>C,gTg/gCg,MODERATE,,1,1,rs907679,0.74(T),"0.0,0.0(B,B)",,-0.9545(T),,chr2,220250147,220250147,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val258Ala/c.773T>C|485|DNPEP|protein_coding|CODING|NM_012100.2|8|1),splice_region_variant(LOW|||c.773T>C|485|DNPEP|protein_coding|CODING|NM_012100.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000088(N),1.000(P),,0.0000(T),0.159,0.744318,4.28,2.29,-0.119000,0.559000,3.004000,0.753000,0.999000,1.000000,9.6511
synonymous_variant,DES,SILENT,NM_001927.3:p.Pro25Pro/c.75A>G,ccA/ccG,LOW,COSM3757962(4),0.886182,0.999,rs1318299,,,,,,chr2,220283259,220283259,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro25Pro/c.75A>G|470|DES|protein_coding|CODING|NM_001927.3|1|1),"HUVEC:H3K27me3,HSMM:H3K27ac,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HSMM:H3K9ac,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1",,RCV000029660.1|RCV000037251.3|RCV000124668.1,,0.9765,0.9611,0.9901,0.90,0.72,0.99,,,,,,,,,,,,,,,,
synonymous_variant,DES,SILENT,NM_001927.3:p.Ser31Ser/c.93T>C,agT/agC,LOW,COSM3749630(3),0.866014,0.999,rs2017800,,,,,,chr2,220283277,220283277,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser31Ser/c.93T>C|470|DES|protein_coding|CODING|NM_001927.3|1|1),"HUVEC:H3K27me3,HSMM:H3K27ac,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HSMM:H3K9ac,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1",,RCV000029661.1|RCV000037256.3|RCV000124669.1,,0.9765,0.9524,0.9901,0.88,0.67,0.99,,,,,,,,,,,,,,,,
missense_variant,SPEG,MISSENSE,NM_005876.4:p.Ala199Val/c.596C>T,gCg/gTg,MODERATE,,,,rs200153486,0.98(T),0.05(B),0(N),-0.9519(T),,chr2,220309664,220309664,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala199Val/c.596C>T|3267|SPEG|protein_coding|CODING|NM_005876.4|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K4me2,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:DNase1,HepG2:H3K27me3",,,,,,,0.00,0.00,0.00,,0.002303(U),1.000(D),"-0.03,0.8,0.83,0.29(T,T,T,T)",0.0774(T),0.387,4.403798,4.86,3.97,0.442000,2.227000,0.537000,0.993000,1.000000,0.996000,10.827
synonymous_variant,SPEG,SILENT,NM_005876.4:p.Lys742Lys/c.2226G>A,aaG/aaA,LOW,COSM4133481(2),0.432308,0.6716,rs10932806,,,,,,chr2,220315970,220315970,G,A,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys742Lys/c.2226G>A|3267|SPEG|protein_coding|CODING|NM_005876.4|5|1),"H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4581,0.4914,0.5119,0.41,0.19,0.52,,,,,,,,,,,,,,,,
synonymous_variant,SPEG,SILENT,NM_005876.4:p.Pro1188Pro/c.3564T>C,ccT/ccC,LOW,,0.983826,1,rs10167209,,,,,,chr2,220333950,220333950,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1188Pro/c.3564T>C|3267|SPEG|protein_coding|CODING|NM_005876.4|13|1),"H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me1,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K27me3",,,,1,0.9914,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LOC100996693,SILENT,NM_001286811.1:p.Val235Val/c.705C>G,gtC/gtG,LOW,,0.90635,0.999,rs2029251,,,,-1.0047(T),,chr2,220362899,220362899,C,G,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val235Val/c.705C>G|238|LOC100996693|protein_coding|CODING|NM_001286811.1|4|1),upstream_gene_variant(MODIFIER||688||420|GMPPA|protein_coding|CODING|NM_013335.3||1),upstream_gene_variant(MODIFIER||718||420|GMPPA|protein_coding|CODING|NM_205847.2||1)","CD4:H3K9me1,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,1,0.9726,1,,,,,,0.000(P),,0.0000(T),.,0.316828,5.18,4.3,-1.654000,0.782000,0.598000,0.302000,0.859000,0.895000,8.3255
synonymous_variant,ASIC4,SILENT,NM_182847.2:p.Ala165Ala/c.495C>G,gcC/gcG,LOW,COSM4133487(1),0.506989,0.7649,rs3731909,,,,,,chr2,220379560,220379560,C,G,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala165Ala/c.495C>G|647|ASIC4|protein_coding|CODING|NM_182847.2|1|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:Gata2,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4908,0.5634,0.6362,0.50,0.26,0.63,,,,,,,,,,,,,,,,
missense_variant,ASIC4,MISSENSE,NM_182847.2:p.Arg616Leu/c.1847G>T,cGg/cTg,MODERATE,COSM3933544(1),0.542133,0.6706,rs11689281,0.24(T),"0.002,0.005(B,B)",1.385(L),-0.9480(T),,chr2,220402671,220402671,G,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg616Leu/c.1847G>T|647|ASIC4|protein_coding|CODING|NM_182847.2|9|1),downstream_gene_variant(MODIFIER||998||613|CHPF|protein_coding|CODING|NM_001195731.1||1),downstream_gene_variant(MODIFIER||998||775|CHPF|protein_coding|CODING|NM_024536.5||1)","HUVEC:H3K27me3,K562:H3K36me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7771,0.451,0.5427,0.46,0.33,0.53,,0.030072(N),0.010(P),"0.03,0.05(T,T)",0.0000(T),0.078,0.892657,4.77,2.96,0.655000,0.737000,2.375000,0.124000,0.574000,0.939000,6.6013
missense_variant,ASIC4,MISSENSE,NM_182847.2:p.Val619Ala/c.1856T>C,gTg/gCg,MODERATE,COSM3933545(1),0.611821,0.6706,rs11695248,1(T),"0.0,0.0(B,B)",0(N),-0.9550(T),,chr2,220402680,220402680,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val619Ala/c.1856T>C|647|ASIC4|protein_coding|CODING|NM_182847.2|9|1),downstream_gene_variant(MODIFIER||989||613|CHPF|protein_coding|CODING|NM_001195731.1||1),downstream_gene_variant(MODIFIER||989||775|CHPF|protein_coding|CODING|NM_024536.5||1)","HUVEC:H3K27me3,K562:H3K36me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7781,0.4697,0.5447,0.54,0.56,0.53,,0.259657(N),1.000(P),"0.16,0.13(T,T)",0.0000(T),0.042,-2.432321,4.77,2.91,-0.119000,0.311000,0.355000,0.021000,0.061000,0.003000,6.6559
synonymous_variant,CHPF,SILENT,NM_024536.5:p.Tyr684Tyr/c.2052T>C,taT/taC,LOW,COSM4133489(1),0.977037,1,rs1976616,,,,,,chr2,220404381,220404381,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr522Tyr/c.1566T>C|613|CHPF|protein_coding|CODING|NM_001195731.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr684Tyr/c.2052T>C|775|CHPF|protein_coding|CODING|NM_024536.5|4|1),downstream_gene_variant(MODIFIER||887||647|ASIC4|protein_coding|CODING|NM_182847.2||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,CHPF,MISSENSE,NM_024536.5:p.Gln371Arg/c.1112A>G,cAg/cGg,MODERATE,COSM4133491(1),0.961462,0.9385,rs6436155,0.81(T),0.001(B),-1.24(N),-0.9989(T),,chr2,220405321,220405321,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln209Arg/c.626A>G|613|CHPF|protein_coding|CODING|NM_001195731.1|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln371Arg/c.1112A>G|775|CHPF|protein_coding|CODING|NM_024536.5|4|1),downstream_gene_variant(MODIFIER||1827||647|ASIC4|protein_coding|CODING|NM_182847.2||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9683,1,0.98,0.93,1.00,,0.026831(N),1.000(P),"2.47,2.47(T,T)",0.0000(T),0.03,-2.210843,4.41,2.6,-0.215000,0.635000,0.865000,0.309000,0.281000,0.060000,2.8882
synonymous_variant,CHPF,SILENT,NM_024536.5:p.Leu168Leu/c.504A>G,ctA/ctG,LOW,COSM442363(3),0.754792,0.7609,rs3731912,,,,,,chr2,220406722,220406722,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu6Leu/c.18A>G|613|CHPF|protein_coding|CODING|NM_001195731.1|2|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu168Leu/c.504A>G|775|CHPF|protein_coding|CODING|NM_024536.5|2|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:Max,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,NH-A:H3K36me3,K562:CTCF,HepG2:Nrsf,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,HMEC:H3K4me2,GM12878:ELF1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,K562:E2F6,NH-A:CTCF,HepG2:H3K4me3,NHEK:H3K36me3,CD4:CTCF,H1ESC:Tcf12,HepG2:CTCF,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Rad21,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,H1ESC:Rad21,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.9162,0.6902,0.7376,0.71,0.68,0.72,,,,,,,,,,,,,,,,
synonymous_variant,TMEM198,SILENT,NM_001005209.1:p.Phe65Phe/c.195T>C,ttT/ttC,LOW,,0.969249,1,rs8179770,,,,,,chr2,220412256,220412256,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe65Phe/c.195T>C|360|TMEM198|protein_coding|CODING|NM_001005209.1|3|1),downstream_gene_variant(MODIFIER||1539|||MIR3132||NON_CODING|NR_036082.1||1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,1,0.9885,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TMEM198,SILENT,NM_001005209.1:p.Asp295Asp/c.885C>T,gaC/gaT,LOW,,0.934505,0.997,rs6436156,,,,,,chr2,220414016,220414016,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp295Asp/c.885C>T|360|TMEM198|protein_coding|CODING|NM_001005209.1|4|1),upstream_gene_variant(MODIFIER||147|||MIR3132||NON_CODING|NR_036082.1||1),downstream_gene_variant(MODIFIER||1434||1896|OBSL1|protein_coding|CODING|NM_015311.2||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.999,0.9712,0.994,0.91,0.75,0.99,,,,,,,,,,,,,,,,
synonymous_variant,OBSL1,SILENT,NM_015311.2:p.Thr1612Thr/c.4836A>G,acA/acG,LOW,,0.985224,1,rs10932813,,,,,,chr2,220419236,220419236,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1612Thr/c.4836A>G|1896|OBSL1|protein_coding|CODING|NM_015311.2|15|1),downstream_gene_variant(MODIFIER||636||1543|OBSL1|protein_coding|CODING|NM_001173431.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K27me3",,,,1,0.9942,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,OBSL1,MISSENSE,NM_015311.2:p.Gln1578Arg/c.4733A>G,cAg/cGg,MODERATE,,0.961062,1,rs10932814,0.52(T),0.0(B),-0.885(N),-0.9730(T),,chr2,220419339,220419339,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1578Arg/c.4733A>G|1896|OBSL1|protein_coding|CODING|NM_015311.2|15|1),downstream_gene_variant(MODIFIER||533||1543|OBSL1|protein_coding|CODING|NM_001173431.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,1,0.987,0.995,0.96,0.90,0.99,,,0.000(P),"1.03,1.03(T,T)",0.0000(T),0.058,0.453340,4.37,4.37,-0.126000,1.075000,0.195000,0.697000,1.000000,0.016000,9.8282
synonymous_variant,OBSL1,SILENT,NM_015311.2:p.Asp1465Asp/c.4395T>C,gaT/gaC,LOW,COSM4133493(1),0.963658,1,rs10932816,0.41(T),,,-1.0479(T),,chr2,220420956,220420956,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1465Asp/c.4395T>C|1543|OBSL1|protein_coding|CODING|NM_001173431.1|14|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1465Asp/c.4395T>C|1896|OBSL1|protein_coding|CODING|NM_015311.2|14|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,1,0.9885,1,0.97,0.91,1.00,,,0.000(P),0.55(T),0.0000(T),.,-1.643007,4.67,-5.72,-2.302000,-1.307000,-3.770000,0.609000,0.760000,0.000000,10.2854
missense_variant,OBSL1,MISSENSE,NM_015311.2:p.Glu1365Asp/c.4095G>C,gaG/gaC,MODERATE,COSM442368(1),0.724641,0.7163,rs1983210,0.38(T),"0.418,0.759,0.075(B,P,B)",2.215(M),-0.9674(T),,chr2,220421417,220421417,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu1365Asp/c.4095G>C|1543|OBSL1|protein_coding|CODING|NM_001173431.1|13|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu1365Asp/c.4095G>C|1896|OBSL1|protein_coding|CODING|NM_015311.2|13|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.911,0.6873,0.7366,0.70,0.64,0.73,,,0.000(P),"-0.61,-0.61,-0.61,-0.61(T,T,T,T)",0.0000(T),0.246,1.801775,4.16,2.11,0.306000,0.954000,0.902000,0.248000,0.997000,1.000000,10.1036
synonymous_variant,OBSL1,SILENT,NM_015311.2:p.Pro1272Pro/c.3816C>T,ccC/ccT,LOW,,0.000798722,0,rs200349173,,,,,,chr2,220422315,220422315,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1272Pro/c.3816C>T|1543|OBSL1|protein_coding|CODING|NM_001173431.1|12|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1272Pro/c.3816C>T|1896|OBSL1|protein_coding|CODING|NM_015311.2|12|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0,0,0.004,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,OBSL1,MISSENSE,NM_015311.2:p.Arg723Lys/c.2168G>A,aGg/aAg,MODERATE,COSM4133496(1),0.792732,0.9038,rs1039898,1(T),"0.001,0.001,0.0,0.001(B,B,B,B)",-0.41(N),-0.9574(T),,chr2,220430203,220430203,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg723Lys/c.2168G>A|1025|OBSL1|protein_coding|CODING|NM_001173408.1|6|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg723Lys/c.2168G>A|1543|OBSL1|protein_coding|CODING|NM_001173431.1|6|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg723Lys/c.2168G>A|1896|OBSL1|protein_coding|CODING|NM_015311.2|6|1)","H1ESC:PolII,H1ESC:H3K36me3,H1ESC:H3K9ac,GM06990:H3K27me3,H1ESC:H2BK5ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:SP1,H1ESC:H3K27ac,H1ESC:DNase1,HepG2:PolII,H1ESC:H4K5ac,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.8211,0.8228,0.9066,0.83,0.67,0.90,,,0.000(P),"0.65,0.57,0.55,0.42,0.9(T,T,T,T,T)",0.0000(T),0.044,-0.599200,5.95,2.12,-0.254000,-0.096000,-0.120000,0.149000,0.507000,0.000000,6.5785
synonymous_variant,OBSL1,SILENT,NM_015311.2:p.Leu307Leu/c.921T>C,ctT/ctC,LOW,COSM4133504(1),0.783347,0.9028,rs10180675,,,,,,chr2,220435034,220435034,A,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu307Leu/c.921T>C|1025|OBSL1|protein_coding|CODING|NM_001173408.1|1|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu307Leu/c.921T>C|1543|OBSL1|protein_coding|CODING|NM_001173431.1|1|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu307Leu/c.921T>C|1896|OBSL1|protein_coding|CODING|NM_015311.2|1|1),upstream_gene_variant(MODIFIER||1920||366|INHA|protein_coding|CODING|NM_002191.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,HMEC:H3K4me3",,,,0.818,0.8242,0.9076,0.82,0.65,0.90,,,,,,,,,,,,,,,,
synonymous_variant,OBSL1,SILENT,NM_015311.2:p.Leu194Leu/c.580C>T,Ctg/Ttg,LOW,COSM4133505(1),0.358826,0.5069,rs1061399,,,,,,chr2,220435375,220435375,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu194Leu/c.580C>T|1025|OBSL1|protein_coding|CODING|NM_001173408.1|1|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu194Leu/c.580C>T|1543|OBSL1|protein_coding|CODING|NM_001173431.1|1|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu194Leu/c.580C>T|1896|OBSL1|protein_coding|CODING|NM_015311.2|1|1),upstream_gene_variant(MODIFIER||1579||366|INHA|protein_coding|CODING|NM_002191.3||1)","NHEK:CTCF,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4284,0.3242,0.4632,0.30,0.14,0.37,,,,,,,,,,,,,,,,
missense_variant,STK11IP,MISSENSE,NM_052902.2:p.Arg1Met/c.2G>T,aGg/aTg,MODERATE,COSM4133507(1),0.833267,0.9921,rs681747,0(D),,,-1.0337(T),,chr2,220462640,220462640,G,T,hom,missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg1Met/c.2G>T|1099|STK11IP|protein_coding|CODING|NM_052902.2|1|1|WARNING_TRANSCRIPT_NO_START_CODON),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,HepG2:SP1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,CD4:H3K4ac,CD4:PolII,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,GM12878:PU1,CD4:H3K9ac,HepG2:Yy1,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.9826,0.9409,0.9652,0.84,0.55,0.97,,,0.999(P),3.46(T),0.0000(T),0.166,1.918783,4.15,-4.18,-0.156000,-1.163000,-0.029000,0.008000,0.000000,0.001000,5.6154
missense_variant,STK11IP,MISSENSE,NM_052902.2:p.Val563Ile/c.1687G>A,Gta/Ata,MODERATE,COSM4133509(1),0.350439,0.6825,rs386604782,0.43(T),"0.009,0.09(B,B)",1.87(L),-1.0301(T),,chr2,220473355,220473355,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val563Ile/c.1687G>A|1099|STK11IP|protein_coding|CODING|NM_052902.2|15|1|WARNING_TRANSCRIPT_NO_START_CODON),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4059,0.3919,0.3598,0.25,0.07,0.34,,0.893239(N),1.000(P),"3.5,3.5(T,T)",0.0000(T),0.011,-0.232288,4.5,0.456,-0.219000,-0.102000,-0.183000,0.029000,0.001000,0.000000,4.1782
missense_variant,STK11IP,MISSENSE,NM_052902.2:p.Ser752Phe/c.2255C>T,tCt/tTt,MODERATE,,0.839058,0.9921,rs627530,0.01(D),0.007(B),1.61(L),-1.0185(T),,chr2,220476443,220476443,C,T,hom,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser752Phe/c.2255C>T|1099|STK11IP|protein_coding|CODING|NM_052902.2|18|1|WARNING_TRANSCRIPT_NO_START_CODON),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9836,0.9424,0.9652,0.84,0.57,0.97,,0.832899(N),1.000(P),"3.48,3.48(T,T)",0.0000(T),0.021,1.664043,4.39,1.31,-0.314000,0.484000,-0.079000,0.001000,0.000000,0.000000,3.4452
missense_variant,SLC4A3,MISSENSE,NM_201574.2:p.His157Pro/c.470A>C,cAc/cCc,MODERATE,COSM4133512(1),0.954673,1,rs597306,1(T),"0.0,0.0(B,B)",-1.385(N),-0.9173(T),,chr2,220494118,220494118,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His157Pro/c.470A>C|1232|SLC4A3|protein_coding|CODING|NM_005070.3|4|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His157Pro/c.470A>C|1259|SLC4A3|protein_coding|CODING|NM_201574.2|4|1),non_coding_exon_variant(MODIFIER|||n.739A>C||SLC4A3||CODING|NR_048551.1|4|1)","GM06990:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.999,0.9841,1,0.95,0.85,1.00,,0.012835(N),1.000(P),"1.61,1.61,1.61,1.61,1.61(T,T,T,T,T)",0.0000(T),0.146,-2.434424,5.01,4.11,-0.358000,0.681000,0.897000,0.142000,0.461000,0.005000,12.2567
synonymous_variant,SLC4A3,SILENT,NM_201574.2:p.Arg366Arg/c.1098G>A,cgG/cgA,LOW,,0.00359425,0,rs41272707,,,,,,chr2,220497040,220497040,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg339Arg/c.1017G>A|1232|SLC4A3|protein_coding|CODING|NM_005070.3|8|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg366Arg/c.1098G>A|1259|SLC4A3|protein_coding|CODING|NM_201574.2|8|1),non_coding_exon_variant(MODIFIER|||n.1286G>A||SLC4A3||CODING|NR_048551.1|8|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.002,0.0043,0.0119,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A3,SILENT,NM_201574.2:p.Glu694Glu/c.2082A>G,gaA/gaG,LOW,,0.946885,1,rs589767,,,,,,chr2,220500423,220500423,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu667Glu/c.2001A>G|1232|SLC4A3|protein_coding|CODING|NM_005070.3|14|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu694Glu/c.2082A>G|1259|SLC4A3|protein_coding|CODING|NM_201574.2|14|1),non_coding_exon_variant(MODIFIER|||n.2295A>G||SLC4A3||CODING|NR_048551.1|14|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9841,0.999,0.95,0.85,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A3,SILENT,NM_201574.2:p.Ala695Ala/c.2085A>G,gcA/gcG,LOW,,0.90635,0.9921,rs639214,,,,,,chr2,220500426,220500426,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala668Ala/c.2004A>G|1232|SLC4A3|protein_coding|CODING|NM_005070.3|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala695Ala/c.2085A>G|1259|SLC4A3|protein_coding|CODING|NM_201574.2|14|1),non_coding_exon_variant(MODIFIER|||n.2298A>G||SLC4A3||CODING|NR_048551.1|14|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9826,0.9697,0.9811,0.90,0.72,0.98,,,,,,,,,,,,,,,,
missense_variant,SLC4A3,MISSENSE,NM_201574.2:p.Asp894Ala/c.2681A>C,gAt/gCt,MODERATE,,0.677516,0.8065,rs635311,0.18(T),"0.0,0.0,0.0(B,B,B)",-0.66(N),-0.9241(T),,chr2,220502367,220502367,A,C,hom,"missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp867Ala/c.2600A>C|1232|SLC4A3|protein_coding|CODING|NM_005070.3|17|1),missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp894Ala/c.2681A>C|1259|SLC4A3|protein_coding|CODING|NM_201574.2|17|1),non_coding_exon_variant(MODIFIER|||n.2894A>C||SLC4A3||CODING|NR_048551.1|17|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6616,0.7925,0.7624,0.68,0.50,0.76,,0.000023(N),1.000(P),"-1.12,-1.12,-1.12,-1.12,-1.12(T,T,T,T,T)",0.0000(T),0.093,1.120745,4.54,-2.34,0.451000,-0.231000,0.627000,0.066000,0.001000,0.008000,2.1114
synonymous_variant,SLC4A3,SILENT,NM_201574.2:p.Leu1158Leu/c.3472T>C,Ttg/Ctg,LOW,COSM1157765(1),0.690895,0.8105,rs684428,,,,,,chr2,220505265,220505265,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1131Leu/c.3391T>C|1232|SLC4A3|protein_coding|CODING|NM_005070.3|21|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1158Leu/c.3472T>C|1259|SLC4A3|protein_coding|CODING|NM_201574.2|21|1),non_coding_exon_variant(MODIFIER|||n.3685T>C||SLC4A3||CODING|NR_048551.1|21|1)","HUVEC:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7117,0.8084,0.8191,0.72,0.48,0.84,,,,,,,,,,,,,,,,
missense_variant,PAX3,MISSENSE,NM_181459.3:p.Thr315Lys/c.944C>A,aCa/aAa,MODERATE,,0.0131789,0,rs2234675,0.28(T),"0.197,0.116,0.232,0.559,0.232(B,B,B,P,B)",1.59(L),0.0724(D),,chr2,223085955,223085955,G,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr314Lys/c.941C>A|483|PAX3|protein_coding|CODING|NM_001127366.2|6|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr315Lys/c.944C>A|479|PAX3|protein_coding|CODING|NM_181457.3|6|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr315Lys/c.944C>A|484|PAX3|protein_coding|CODING|NM_181458.3|6|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr315Lys/c.944C>A|505|PAX3|protein_coding|CODING|NM_181459.3|6|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr315Lys/c.944C>A|407|PAX3|protein_coding|CODING|NM_181460.3|6|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr315Lys/c.944C>A|403|PAX3|protein_coding|CODING|NM_181461.3|6|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0133,0.0187,0.0368,0.03,0.01,0.04,,0.000003(D),1.000(D),"-3.38,-3.39,-3.37,-3.37,-3.4,-3.37(D,D,D,D,D,D)",0.4915(T),0.549,4.087094,6.06,6.06,0.655000,2.882000,9.414000,0.970000,0.982000,1.000000,20.6208
synonymous_variant,PAX3,SILENT,NM_181459.3:p.Gly43Gly/c.129T>C,ggT/ggC,LOW,,0.904353,0.998,rs12623857,,,,,,chr2,223161889,223161889,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|215|PAX3|protein_coding|CODING|NM_000438.5|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|483|PAX3|protein_coding|CODING|NM_001127366.2|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|206|PAX3|protein_coding|CODING|NM_013942.4|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|479|PAX3|protein_coding|CODING|NM_181457.3|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|484|PAX3|protein_coding|CODING|NM_181458.3|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|505|PAX3|protein_coding|CODING|NM_181459.3|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|407|PAX3|protein_coding|CODING|NM_181460.3|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly43Gly/c.129T>C|403|PAX3|protein_coding|CODING|NM_181461.3|2|1),upstream_gene_variant(MODIFIER||977||163|CCDC140|protein_coding|CODING|NM_153038.1||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9601,0.9063,0.8459,0.85,0.84,0.85,,,,,,,,,,,,,,,,
synonymous_variant,SGPP2,SILENT,NM_152386.2:p.Pro315Pro/c.945A>G,ccA/ccG,LOW,,0.877796,1,rs386498160,,,,,,chr2,223423362,223423362,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro315Pro/c.945A>G|399|SGPP2|protein_coding|CODING|NM_152386.2|5|1),"GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9908,0.9193,0.9364,0.86,0.71,0.93,,,,,,,,,,,,,,,,
missense_variant,FARSB,MISSENSE,NM_005687.3:p.Val585Ile/c.1753G>A,Gtt/Att,MODERATE,,0.836062,0.9712,rs7185,0.86(T),0.001(B),-0.725(N),-0.9614(T),,chr2,223436607,223436607,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val585Ile/c.1753G>A|589|FARSB|protein_coding|CODING|NM_005687.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9284,0.8602,0.8767,0.81,0.68,0.87,,0.000045(N),1.000(P),,0.0000(T),0.106,-0.437740,5.68,4.33,-0.254000,0.984000,0.746000,0.637000,0.970000,1.000000,9.4012
synonymous_variant,KCNE4,SILENT,NM_080671.3:p.Gly78Gly/c.234C>T,ggC/ggT,LOW,COSM3933547(1),0.72504,0.6458,rs3795886,,,,,,chr2,223917629,223917629,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly78Gly/c.234C>T|221|KCNE4|protein_coding|CODING|NM_080671.3|2|1),"IMR90:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.8241,0.7363,0.7048,0.70,0.71,0.70,,,,,,,,,,,,,,,,
synonymous_variant,KCNE4,SILENT,NM_080671.3:p.Pro139Pro/c.417T>C,ccT/ccC,LOW,COSM4133517(1),0.966653,0.9931,rs10201907,,,,,,chr2,223917812,223917812,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro139Pro/c.417T>C|221|KCNE4|protein_coding|CODING|NM_080671.3|2|1),"IMR90:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.9509,0.9669,0.9364,0.96,0.98,0.94,,,,,,,,,,,,,,,,
missense_variant,KCNE4,MISSENSE,NM_080671.3:p.Asp196Glu/c.588T>G,gaT/gaG,MODERATE,,0.670927,0.6885,rs12621643,0.53(T),0.001(B),0.55(N),-0.9646(T),,chr2,223917983,223917983,T,G,hom,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp196Glu/c.588T>G|221|KCNE4|protein_coding|CODING|NM_080671.3|2|1),"HUVEC:H3K27me3,IMR90:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",Acute_lymphoblastic_leukemia_childhood,,,0.8139,0.7478,0.7068,0.64,0.53,0.70,,0.000137(N),1.000(P),,0.0000(T),0.054,1.579245,6.17,-10.7,-0.994000,-2.309000,-1.799000,0.893000,0.019000,0.000000,14.3403
synonymous_variant,WDFY1,SILENT,NM_020830.3:p.Thr143Thr/c.429G>A,acG/acA,LOW,,0.101038,0.248,rs2272317,,,,,,chr2,224765956,224765956,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr143Thr/c.429G>A|410|WDFY1|protein_coding|CODING|NM_020830.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0562,0.1052,0.0119,0.04,0.08,0.01,,,,,,,,,,,,,,,,
synonymous_variant,MRPL44,SILENT,NM_022915.3:p.Glu182Glu/c.546A>G,gaA/gaG,LOW,COSM3757982(1),0.0485224,0.002,rs11546405,,,,,,chr2,224824617,224824617,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu182Glu/c.546A>G|332|MRPL44|protein_coding|CODING|NM_022915.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,GM06990:H3K36me3",,,,0.0399,0.0634,0.1521,0.10,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,SERPINE2,SILENT,NM_001136530.1:p.Asn197Asn/c.591C>T,aaC/aaT,LOW,COSM3757983(3),0.148562,0.1478,rs6712954,,,,,,chr2,224856650,224856650,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn185Asn/c.555C>T|397|SERPINE2|protein_coding|CODING|NM_001136528.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn197Asn/c.591C>T|409|SERPINE2|protein_coding|CODING|NM_001136530.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn185Asn/c.555C>T|398|SERPINE2|protein_coding|CODING|NM_006216.3|4|1),non_coding_exon_variant(MODIFIER|||n.1216C>T||SERPINE2||CODING|NR_073116.1|5|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0501,0.2637,0.0716,0.11,0.21,0.06,,,,,,,,,,,,,,,,
synonymous_variant,SERPINE2,SILENT,NM_001136530.1:p.Leu89Leu/c.267C>T,ctC/ctT,LOW,,0.201877,0.244,rs12138,,,,,,chr2,224866387,224866387,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu77Leu/c.231C>T|397|SERPINE2|protein_coding|CODING|NM_001136528.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu89Leu/c.267C>T|409|SERPINE2|protein_coding|CODING|NM_001136530.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu77Leu/c.231C>T|398|SERPINE2|protein_coding|CODING|NM_006216.3|2|1),non_coding_exon_variant(MODIFIER|||n.892C>T||SERPINE2||CODING|NR_073116.1|3|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2372,0.1744,0.0994,0.14,0.22,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SERPINE2,SILENT,NM_001136530.1:p.Thr26Thr/c.78G>T,acG/acT,LOW,,0.23742,0.244,rs12436,,,,,,chr2,224866576,224866576,C,A,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr14Thr/c.42G>T|397|SERPINE2|protein_coding|CODING|NM_001136528.1|2|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr26Thr/c.78G>T|409|SERPINE2|protein_coding|CODING|NM_001136530.1|2|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr14Thr/c.42G>T|398|SERPINE2|protein_coding|CODING|NM_006216.3|2|1),non_coding_exon_variant(MODIFIER|||n.703G>T||SERPINE2||CODING|NR_073116.1|3|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2434,0.1844,0.1123,0.17,0.30,0.11,,,,,,,,,,,,,,,,
synonymous_variant,CUL3,SILENT,NM_001257198.1:p.Gln670Gln/c.2010A>G,caA/caG,LOW,,0.232628,0.2401,rs2070127,,,,,,chr2,225346646,225346646,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln598Gln/c.1794A>G|702|CUL3|protein_coding|CODING|NM_001257197.1|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln670Gln/c.2010A>G|774|CUL3|protein_coding|CODING|NM_001257198.1|14|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln664Gln/c.1992A>G|768|CUL3|protein_coding|CODING|NM_003590.4|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3057,0.2262,0.1312,0.17,0.25,0.13,,,,,,,,,,,,,,,,
missense_variant,DOCK10,MISSENSE,NM_014689.2:p.Ile1252Met/c.3756C>G,atC/atG,MODERATE,,0.249201,0.0228,rs4674941,0.78(T),"0.0,0.0,0.0(B,B,B)",-1.61(N),-1.0018(T),,chr2,225670901,225670901,G,C,het,"missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile1246Met/c.3738C>G|2180|DOCK10|protein_coding|CODING|NM_001290263.1|34|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile1252Met/c.3756C>G|2186|DOCK10|protein_coding|CODING|NM_014689.2|34|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.1166,0.1196,0.1501,0.27,0.56,0.13,,0.000000(N),1.000(P),"1.99,1.99(T,T)",0.0000(T),0.119,-0.664100,5.96,5.96,-0.120000,1.544000,2.565000,0.932000,1.000000,1.000000,17.4358
synonymous_variant,DOCK10,SILENT,NM_014689.2:p.Tyr1209Tyr/c.3627C>T,taC/taT,LOW,COSM1405878(1),0.164936,0.0248,rs12328236,,,,-0.9199(T),,chr2,225672460,225672460,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1203Tyr/c.3609C>T|2180|DOCK10|protein_coding|CODING|NM_001290263.1|33|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1209Tyr/c.3627C>T|2186|DOCK10|protein_coding|CODING|NM_014689.2|33|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.0777,0.0749,0.1103,0.19,0.38,0.10,,,0.000(P),,0.0000(T),.,0.232714,5.27,-0.308,-0.982000,-0.159000,1.345000,0.729000,0.996000,1.000000,9.1186
synonymous_variant,DOCK10,SILENT,NM_014689.2:p.Leu1088Leu/c.3264T>C,ctT/ctC,LOW,,0.249601,0.0228,rs7572725,,,,,,chr2,225684166,225684166,A,G,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1082Leu/c.3246T>C|2180|DOCK10|protein_coding|CODING|NM_001290263.1|29|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1088Leu/c.3264T>C|2186|DOCK10|protein_coding|CODING|NM_014689.2|29|1)","GM12878:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,CD4:H3K36me3,GM06990:H3K36me3",,,,0.1166,0.1196,0.1511,0.27,0.56,0.13,,,,,,,,,,,,,,,,
synonymous_variant,DOCK10,SILENT,NM_014689.2:p.Ser825Ser/c.2475T>C,agT/agC,LOW,,0.180511,0.0218,rs7577271,,,,,,chr2,225709926,225709926,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser819Ser/c.2457T>C|2180|DOCK10|protein_coding|CODING|NM_001290263.1|21|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser825Ser/c.2475T>C|2186|DOCK10|protein_coding|CODING|NM_014689.2|21|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.0798,0.0764,0.1133,0.20,0.42,0.10,,,,,,,,,,,,,,,,
synonymous_variant,DOCK10,SILENT,NM_014689.2:p.Gln545Gln/c.1635A>G,caA/caG,LOW,,0.171725,0.0317,rs7589474,,,,,,chr2,225727431,225727431,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln539Gln/c.1617A>G|2180|DOCK10|protein_coding|CODING|NM_001290263.1|14|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln545Gln/c.1635A>G|2186|DOCK10|protein_coding|CODING|NM_014689.2|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.0716,0.0548,0.0865,0.19,0.42,0.08,,,,,,,,,,,,,,,,
synonymous_variant,DOCK10,SILENT,NM_014689.2:p.Ala177Ala/c.531G>A,gcG/gcA,LOW,COSM3757990(1),0.224241,0.0556,rs2304336,,,,,,chr2,225750861,225750861,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala171Ala/c.513G>A|2180|DOCK10|protein_coding|CODING|NM_001290263.1|6|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala177Ala/c.531G>A|2186|DOCK10|protein_coding|CODING|NM_014689.2|6|1)","IMR90:H2BK120ac,GM12878:H3K36me3,IMR90:H3K4me2,CD4:H4K8ac,IMR90:H2BK12ac,IMR90:H3K27ac,IMR90:H3K18ac,HMEC:DNase1,GM06990:H3K36me3,GM06990:DNase1",,,,0.1667,0.0937,0.1412,0.25,0.47,0.15,,,,,,,,,,,,,,,,
synonymous_variant,NYAP2,SILENT,NM_020864.1:p.Tyr31Tyr/c.93T>C,taT/taC,LOW,COSM3933550(2),0.756589,0.5903,rs2048936,,,,,,chr2,226273689,226273689,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr31Tyr/c.93T>C|653|NYAP2|protein_coding|CODING|NM_020864.1|2|1),,,,,0.5838,0.7781,0.8171,0.86,0.93,0.82,,,,,,,,,,,,,,,,
synonymous_variant,NYAP2,SILENT,NM_020864.1:p.Ser534Ser/c.1602C>T,tcC/tcT,LOW,COSM442407(1),0.534145,0.5288,rs3828256,,,,,,chr2,226447735,226447735,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser534Ser/c.1602C>T|653|NYAP2|protein_coding|CODING|NM_020864.1|4|1),,,,,0.7106,0.7147,0.6928,0.55,0.31,0.66,,,,,,,,,,,,,,,,
missense_variant,NYAP2,MISSENSE,NM_020864.1:p.Thr586Pro/c.1756A>C,Aca/Cca,MODERATE,,0.933307,0.8482,rs3748993,1(T),,-1.04(N),-0.9635(T),,chr2,226491770,226491770,A,C,hom,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr586Pro/c.1756A>C|653|NYAP2|protein_coding|CODING|NM_020864.1|5|1),,,,,0.8906,0.9798,0.9503,0.96,0.99,0.95,,,0.999(P),,0.0000(T),.,1.654462,5.78,3.9,-0.121000,0.769000,1.126000,0.939000,0.728000,0.331000,6.5495
synonymous_variant,COL4A4,SILENT,NM_000092.4:p.Phe1644Phe/c.4932C>T,ttC/ttT,LOW,COSM3757991(4),0.514377,0.4048,rs2228557,,,,,,chr2,227872182,227872182,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1644Phe/c.4932C>T|1690|COL4A4|protein_coding|CODING|NM_000092.4|48|1),"H1ESC:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5869,0.4741,0.4205,0.46,0.57,0.41,,,,,,,,,,,,,,,,
synonymous_variant,COL4A4,SILENT,NM_000092.4:p.Val1516Val/c.4548A>G,gtA/gtG,LOW,COSM3757992(2),0.640575,0.5982,rs2228555,,,,,,chr2,227872995,227872995,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1516Val/c.4548A>G|1690|COL4A4|protein_coding|CODING|NM_000092.4|47|1),"HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6943,0.5432,0.5199,0.59,0.73,0.51,,,,,,,,,,,,,,,,
missense_variant,COL4A4,MISSENSE,NM_000092.4:p.Ser1403Pro/c.4207T>C,Tca/Cca,MODERATE,COSM3757993(4),0.526158,0.4058,rs3752895,0.61(T),0.0(B),-0.835(N),-0.9495(T),,chr2,227886773,227886773,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser1403Pro/c.4207T>C|1690|COL4A4|protein_coding|CODING|NM_000092.4|44|1),HepG2:H3K27me3,,,,0.5552,0.4841,0.4334,0.48,0.61,0.42,,,1.000(P),"-2.62,-2.57(D,D)",0.0000(T),0.109,-0.191210,5.63,5.63,-0.215000,1.525000,3.419000,0.387000,0.977000,0.996000,11.0766
synonymous_variant,COL4A4,SILENT,NM_000092.4:p.Pro1360Pro/c.4080G>A,ccG/ccA,LOW,COSM1752390(5),0.491813,0.4028,rs2228556,,,,,,chr2,227892619,227892619,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1360Pro/c.4080G>A|1690|COL4A4|protein_coding|CODING|NM_000092.4|42|1),"HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5501,0.4769,0.4384,0.45,0.53,0.42,,,,,,,,,,,,,,,,
missense_variant,COL4A4,MISSENSE,NM_000092.4:p.Val1327Met/c.3979G>A,Gtg/Atg,MODERATE,COSM1752392(1),0.493011,0.4028,rs2229813,0.18(T),0.004(B),-0.79(N),-0.9434(T),,chr2,227892720,227892720,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1327Met/c.3979G>A|1690|COL4A4|protein_coding|CODING|NM_000092.4|42|1),"HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5552,0.4784,0.4384,0.45,0.53,0.42,,,1.000(P),"-3.25,-3.25(D,D)",0.0000(T),0.098,-0.158751,5.43,1.6,-0.982000,-0.132000,-0.140000,0.082000,0.967000,0.697000,8.0333
synonymous_variant,COL4A4,SILENT,NM_000092.4:p.Lys1228Lys/c.3684G>A,aaG/aaA,LOW,COSM3757994(2),0.495607,0.4028,rs2229812,,,,,,chr2,227896886,227896886,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1228Lys/c.3684G>A|1690|COL4A4|protein_coding|CODING|NM_000092.4|39|1),"NHEK:H3K27me3,GM06990:H3K36me3",,,,0.5746,0.4769,0.4384,0.45,0.52,0.42,,,,,,,,,,,,,,,,
synonymous_variant,COL4A4,SILENT,NM_000092.4:p.Gly1198Gly/c.3594G>A,ggG/ggA,LOW,COSM3757995(1),0.495008,0.4028,rs10203363,,,,,,chr2,227896976,227896976,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1198Gly/c.3594G>A|1690|COL4A4|protein_coding|CODING|NM_000092.4|39|1),"NHEK:H3K27me3,GM06990:H3K36me3",,,,0.5736,0.4769,0.4364,0.45,0.52,0.42,,,,,,,,,,,,,,,,
missense_variant,COL4A4,MISSENSE,NM_000092.4:p.Pro1004Leu/c.3011C>T,cCg/cTg,MODERATE,COSM4001525(2),0.547324,0.4821,rs1800517,0.05(D),0.2(B),2.53(M),-1.1616(T),,chr2,227915832,227915832,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1004Leu/c.3011C>T|1690|COL4A4|protein_coding|CODING|NM_000092.4|33|1),"HepG2:H3K27me3,GM06990:H3K36me3",,,,0.637,0.5173,0.494,0.52,0.58,0.49,,,0.000(P),"-4.09,-4.09(D,D)",0.0000(T),0.275,1.845210,5.52,4.64,-0.150000,1.336000,4.358000,0.152000,0.871000,1.000000,12.4796
missense_variant,COL4A4,MISSENSE,NM_000092.4:p.Pro482Ser/c.1444C>T,Cca/Tca,MODERATE,COSM3757996(1),0.548522,0.5198,rs2229814,0.72(T),0.0(B),2.49(M),-0.9027(T),,chr2,227954599,227954599,G,A,het,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro482Ser/c.1444C>T|1690|COL4A4|protein_coding|CODING|NM_000092.4|21|1),GM06990:H3K36me3,,,,0.638,0.6081,0.498,0.51,0.53,0.50,,,1.000(P),"-2.62,-2.53(D,D)",0.0000(T),0.037,-1.125898,5.74,0.339,-0.360000,0.089000,0.624000,0.512000,0.750000,0.533000,1.2219
missense_variant,COL4A3,MISSENSE,NM_000091.4:p.Leu141Pro/c.422T>C,cTg/cCg,MODERATE,,0.796725,0.8978,rs10178458,1(T),"0.004,0.004,0.004,0.011(B,B,B,B)",-2.72(N),-0.9192(T),,chr2,228111435,228111435,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu141Pro/c.422T>C|1670|COL4A3|protein_coding|CODING|NM_000091.4|7|1),intron_variant(MODIFIER|||n.1593-8545A>G||LOC654841||NON_CODING|NR_102371.1|9|1)",GM06990:H3K36me3,,,,0.8548,0.8775,0.839,0.77,0.64,0.83,,0.141938(N),0.380(P),-3.4(D),0.0000(T),0.129,-2.434477,5.49,3.62,-0.833000,0.697000,0.396000,0.044000,0.956000,0.373000,13.1583
missense_variant,COL4A3,MISSENSE,NM_000091.4:p.Glu162Gly/c.485A>G,gAa/gGa,MODERATE,,0.796326,0.8978,rs6436669,0.71(T),"0.002,0.0,0.006,0.011(B,B,B,B)",0.695(N),-0.9619(T),,chr2,228113175,228113175,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu162Gly/c.485A>G|1670|COL4A3|protein_coding|CODING|NM_000091.4|9|1),intron_variant(MODIFIER|||n.1593-10285T>C||LOC654841||NON_CODING|NR_102371.1|9|1)",,,,,0.8528,0.8775,0.839,0.77,0.64,0.83,,0.327603(N),1.000(P),-3.17(D),0.0000(T),0.05,-1.514832,5.56,1.24,-0.755000,0.068000,0.210000,0.161000,0.925000,0.985000,8.8305
missense_variant,COL4A3,MISSENSE,NM_000091.4:p.Asp326Tyr/c.976G>T,Gat/Tat,MODERATE,COSM3758000(1),0.115815,0.129,rs55703767,0.04(D),"0.026,0.06,0.097,0.157(B,B,B,B)",1.77(L),-0.9690(T),,chr2,228121101,228121101,G,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp326Tyr/c.976G>T|1670|COL4A3|protein_coding|CODING|NM_000091.4|17|1),intron_variant(MODIFIER|||n.1592+2793C>A||LOC654841||NON_CODING|NR_102371.1|9|1)",GM06990:H3K36me3,,,,0.1074,0.1542,0.2117,0.17,0.04,0.22,,0.885103(N),0.982(P),-3.3(D),0.0009(T),0.083,1.132535,5.87,3.01,-0.136000,0.898000,0.499000,0.349000,0.788000,0.695000,5.6832
synonymous_variant,COL4A3,SILENT,NM_000091.4:p.Leu399Leu/c.1195C>T,Ctg/Ttg,LOW,,0.767572,0.8621,rs10205042,,,,,,chr2,228128540,228128540,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu399Leu/c.1195C>T|1670|COL4A3|protein_coding|CODING|NM_000091.4|21|1),intron_variant(MODIFIER|||n.1486+845G>A||LOC654841||NON_CODING|NR_102371.1|8|1)",GM06990:H3K36me3,,,,0.819,0.7853,0.7356,0.72,0.68,0.73,,,,,,,,,,,,,,,,
missense_variant,COL4A3,MISSENSE,NM_000091.4:p.Pro574Leu/c.1721C>T,cCg/cTg,MODERATE,COSM3758002(2),0.39996,0.4752,rs28381984,0.04(D),"0.944,0.987,1.0,0.998(D,D,D,D)",2.36(M),-1.3321(T),,chr2,228135631,228135631,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro574Leu/c.1721C>T|1670|COL4A3|protein_coding|CODING|NM_000091.4|25|1),intron_variant(MODIFIER|||n.423-2146G>A||LOC654841||NON_CODING|NR_102371.1|4|1)",,,,,0.5532,0.4409,0.4732,0.39,0.21,0.47,,0.000847(D),0.000(P),-3.16(D),0.0000(T),0.277,3.793365,5.8,5.8,0.650000,2.740000,2.193000,0.769000,0.130000,0.367000,16.9678
missense_variant,COL4A3,MISSENSE,NM_000091.4:p.Gly751Arg/c.2251G>A,Gga/Aga,MODERATE,,,,,0.49(T),"0.04,0.04,0.04,0.067(B,B,B,B)",-0.895(N),-0.5306(T),,chr2,228145183,228145183,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly751Arg/c.2251G>A|1670|COL4A3|protein_coding|CODING|NM_000091.4|30|1),intron_variant(MODIFIER|||n.330-892C>T||LOC654841||NON_CODING|NR_102371.1|3|1)",GM06990:H3K36me3,,,,,,,,,,,0.324043(N),0.999(N),-3.25(D),0.4092(T),0.259,0.852343,5.23,1.9,0.563000,0.563000,0.912000,0.994000,0.982000,0.936000,5.5767
missense_variant,TM4SF20,MISSENSE,NM_024795.3:p.Ala27Val/c.80C>T,gCg/gTg,MODERATE,COSM149081(3),0.105831,0.1935,rs7574414,0.86(T),0.24(B),1.27(L),-1.0609(T),,chr2,228243905,228243905,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala27Val/c.80C>T|229|TM4SF20|protein_coding|CODING|NM_024795.3|1|1),HepG2:H3K27me3,,,,0.1207,0.0807,0.1511,0.10,0.03,0.14,,0.750664(N),1.000(P),1.73(T),0.0000(T),0.111,-0.131890,5.77,1.78,0.591000,0.711000,0.089000,0.029000,0.034000,0.000000,5.2601
synonymous_variant,AGFG1,SILENT,NM_001135187.1:p.Thr496Thr/c.1488A>G,acA/acG,LOW,,0.767173,0.6885,rs13426457,,,,-1.0840(T),,chr2,228416712,228416712,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr496Thr/c.1488A>G|584|AGFG1|protein_coding|CODING|NM_001135187.1|12|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr472Thr/c.1416A>G|560|AGFG1|protein_coding|CODING|NM_001135188.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr432Thr/c.1296A>G|522|AGFG1|protein_coding|CODING|NM_001135189.1|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr472Thr/c.1416A>G|562|AGFG1|protein_coding|CODING|NM_004504.4|11|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8211,0.7161,0.7097,0.76,0.83,0.72,,,0.000(P),,0.0000(T),.,0.675430,5.5,-7.23,-1.291000,-1.864000,-0.213000,0.739000,0.012000,0.395000,9.2988
missense_variant,C2orf83,MISSENSE,NM_020161.3:p.Glu104Gln/c.310G>C,Gag/Cag,MODERATE,,0.841653,0.996,rs2138402,1(T),0.0(B),-0.345(N),-0.9599(T),,chr2,228476253,228476253,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu104Gln/c.310G>C|150|C2orf83|protein_coding|CODING|NM_020161.3|3|1),3_prime_UTR_variant(MODIFIER||114|c.*114G>C|96|C2orf83|protein_coding|CODING|NM_001162483.1|4|1)",,,,,0.8906,0.9308,0.9046,0.82,0.67,0.89,,,1.000(P),0.14(T),0.0000(T),0.01,-2.154254,1.45,0.457,-0.281000,-0.230000,0.246000,0.002000,0.000000,0.000000,2.5051
missense_variant,DAW1,MISSENSE,NM_178821.1:p.Thr121Ser/c.361A>T,Act/Tct,MODERATE,COSM3758006(2),0.138978,0.005,rs1715828,0.19(T),0.497(P),0.945(L),-1.1388(T),,chr2,228758554,228758554,A,T,het,missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr121Ser/c.361A>T|415|DAW1|protein_coding|CODING|NM_178821.1|5|1),,,,,0.1656,0.134,0.2425,0.19,0.16,0.21,,0.000000(D),0.000(P),"-1.48,0.59,1.6(T,T,T)",0.0001(T),0.372,4.462288,5.74,5.74,0.528000,2.174000,8.194000,0.662000,0.997000,1.000000,14.8638
missense_variant,SPHKAP,MISSENSE,NM_001142644.1:p.Ser1603Arg/c.4809C>G,agC/agG,MODERATE,COSM1406005(1),0.175519,0.2282,rs16824283,0.04(D),"0.787,0.613(P,P)",1.52(L),-1.0300(T),,chr2,228855866,228855866,G,C,het,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser1603Arg/c.4809C>G|1700|SPHKAP|protein_coding|CODING|NM_001142644.1|11|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser1574Arg/c.4722C>G|1671|SPHKAP|protein_coding|CODING|NM_030623.3|10|1)",,,,,0.1748,0.1931,0.3022,0.20,0.07,0.27,,0.000501(D),1.000(P),"3.28,3.28(T,T)",0.0000(T),0.07,1.699048,6.17,-2.19,-0.137000,-0.511000,0.210000,0.090000,0.000000,0.088000,13.8991
synonymous_variant,TRIP12,SILENT,NM_001284214.1:p.Thr885Thr/c.2655A>G,acA/acG,LOW,COSM149086(1),0.350839,0.3581,rs13018957,,,,,,chr2,230668858,230668858,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr885Thr/c.2655A>G|2040|TRIP12|protein_coding|CODING|NM_001284214.1|19|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr870Thr/c.2610A>G|2025|TRIP12|protein_coding|CODING|NM_001284215.1|17|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr567Thr/c.1701A>G|1722|TRIP12|protein_coding|CODING|NM_001284216.1|16|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr837Thr/c.2511A>G|1992|TRIP12|protein_coding|CODING|NM_004238.2|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.438,0.5089,0.39,0.21,0.48,,,,,,,,,,,,,,,,
missense_variant,FBXO36,MISSENSE,NM_174899.4:p.Leu86Phe/c.258G>T,ttG/ttT,MODERATE,COSM149087(1),0.179712,0.1042,rs1035834,0.05(D),"0.864,0.864(P,P)",2.555(M),-1.0597(T),,chr2,230861519,230861519,G,T,het,missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu86Phe/c.258G>T|188|FBXO36|protein_coding|CODING|NM_174899.4|3|1),,,,,0.0849,0.268,0.2654,0.22,0.19,0.24,,0.000008(D),0.000(P),"0.37,0.44(T,T)",0.0000(T),0.187,2.254163,5.37,0.962,0.561000,0.125000,0.765000,0.083000,0.959000,1.000000,12.425
missense_variant,SP110,MISSENSE,NM_080424.2:p.Met523Thr/c.1568T>C,aTg/aCg,MODERATE,COSM3758010(1),0.32488,0.1677,rs1135791,0.42(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-0.625(N),-0.9481(T),,chr2,231042276,231042276,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met529Thr/c.1586T>C|555|SP110|protein_coding|CODING|NM_001185015.1|15|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met523Thr/c.1568T>C|689|SP110|protein_coding|CODING|NM_004509.3|14|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met523Thr/c.1568T>C|549|SP110|protein_coding|CODING|NM_004510.3|14|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met523Thr/c.1568T>C|713|SP110|protein_coding|CODING|NM_080424.2|14|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4479,0.3545,0.496,0.42,0.26,0.50,,0.965581(N),1.000(P),"-0.46,-0.46,-0.46,-0.46,-0.46,-0.46(T,T,T,T,T,T)",0.0000(T),0.04,-0.192867,4.61,-0.782,-1.974000,-0.498000,-0.527000,0.002000,0.000000,0.000000,0.2939
missense_variant,SP110,MISSENSE,NM_080424.2:p.Leu425Ser/c.1274T>C,tTg/tCg,MODERATE,,0.903954,0.995,rs386589923,0.32(T),"0.001,0.0,0.001,0.0,0.0(B,B,B,B,B)",-0.115(N),-1.0083(T),,chr2,231050715,231050715,A,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu431Ser/c.1292T>C|555|SP110|protein_coding|CODING|NM_001185015.1|12|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu425Ser/c.1274T>C|689|SP110|protein_coding|CODING|NM_004509.3|11|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu425Ser/c.1274T>C|549|SP110|protein_coding|CODING|NM_004510.3|11|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu425Ser/c.1274T>C|713|SP110|protein_coding|CODING|NM_080424.2|11|1)","GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000005877.1,,0.9366,0.8746,0.8748,0.86,0.85,0.87,,0.733030(N),1.000(P),"1.09,0.97,-0.13,-0.12,-0.13,2.57(T,T,T,T,T,T)",0.0000(T),0.17,-1.170752,2.59,-1.77,-1.774000,-0.896000,-0.364000,0.001000,0.000000,0.000000,3.5984
missense_variant,SP110,MISSENSE,NM_080424.2:p.Gly299Arg/c.895G>A,Gga/Aga,MODERATE,,0.802516,0.8978,rs1365776,0.46(T),"0.0,0.0,0.0,0.001(B,B,B,B)",-0.345(N),-0.9952(T),,chr2,231072709,231072709,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly305Arg/c.913G>A|555|SP110|protein_coding|CODING|NM_001185015.1|9|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly299Arg/c.895G>A|689|SP110|protein_coding|CODING|NM_004509.3|8|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly299Arg/c.895G>A|549|SP110|protein_coding|CODING|NM_004510.3|8|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly299Arg/c.895G>A|713|SP110|protein_coding|CODING|NM_080424.2|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.7839,0.6262,0.70,0.90,0.60,,0.326734(N),1.000(P),"1.22,1.09,-0.18,0.01,0.0,2.45(T,T,T,T,T,T)",0.0000(T),0.146,-0.189485,3.62,-0.142,-0.360000,-0.289000,-0.226000,0.183000,0.000000,0.001000,4.0173
missense_variant,SP110,MISSENSE,NM_080424.2:p.Trp112Arg/c.334T>C,Tgg/Cgg,MODERATE,,0.951078,0.996,rs1129411,0.35(T),"0.0,0.0,0.002,0.001(B,B,B,B)",0(N),-1.0259(T),,chr2,231077725,231077725,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp118Arg/c.352T>C|555|SP110|protein_coding|CODING|NM_001185015.1|5|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp112Arg/c.334T>C|689|SP110|protein_coding|CODING|NM_004509.3|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp112Arg/c.334T>C|549|SP110|protein_coding|CODING|NM_004510.3|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp112Arg/c.334T>C|713|SP110|protein_coding|CODING|NM_080424.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9489,0.9006,0.8827,0.91,0.98,0.88,,0.206874(N),1.000(P),"3.11,3.11,3.11,3.11,3.11,3.11,3.11(T,T,T,T,T,T,T)",0.0000(T),0.59,-1.612435,4.26,-0.859,-2.142000,-0.430000,-0.194000,0.000000,0.000000,0.000000,6.1926
missense_variant,SP140,MISSENSE,NM_007237.4:p.Glu516Lys/c.1546G>A,Gaa/Aaa,MODERATE,,0.973842,0.998,rs4972946,1(T),"0.0,0.0,0.001,0.0(B,B,B,B)",-1.445(N),-0.9896(T),,chr2,231149108,231149108,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu489Lys/c.1465G>A|840|SP140|protein_coding|CODING|NM_001278451.1|15|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu456Lys/c.1366G>A|807|SP140|protein_coding|CODING|NM_001278452.1|14|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu402Lys/c.1204G>A|753|SP140|protein_coding|CODING|NM_001278453.1|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu516Lys/c.1546G>A|867|SP140|protein_coding|CODING|NM_007237.4|16|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.9877,0.9597,0.9185,0.94,0.98,0.92,,,1.000(P),"0.75,1.06,0.8,0.53,0.83(T,T,T,T,T)",0.0000(T),0.079,-1.648748,3.03,0.407,-0.535000,-0.178000,-0.453000,0.005000,0.000000,0.000000,4.1408
missense_variant,SP140L,MISSENSE,NM_138402.4:p.Pro377Ser/c.1129C>T,Cca/Tca,MODERATE,COSM3758015(2),0.416733,0.2143,rs7590429,0.18(T),"0.145,0.068(B,B)",1.5(L),-0.9497(T),,chr2,231258150,231258150,C,T,het,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro377Ser/c.1129C>T|580|SP140L|protein_coding|CODING|NM_138402.4|13|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.3919,0.4404,0.44,0.45,0.44,,,1.000(P),"0.03,0.03,0.03,0.03(T,T,T,T)",0.0000(T),0.074,0.812214,3.94,2.13,-0.966000,0.436000,1.716000,0.004000,0.055000,0.081000,6.5031
synonymous_variant,SP100,SILENT,NM_001080391.1:p.Ser419Ser/c.1257G>A,tcG/tcA,LOW,COSM4001535(1),0.664936,0.4772,rs1050224,,,,-1.0068(T),,chr2,231331896,231331896,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser394Ser/c.1182G>A|452|SP100|protein_coding|CODING|NM_001206703.1|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser419Ser/c.1257G>A|885|SP100|protein_coding|CODING|NM_001080391.1|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser419Ser/c.1257G>A|688|SP100|protein_coding|CODING|NM_001206701.1|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser419Ser/c.1257G>A|480|SP100|protein_coding|CODING|NM_001206702.1|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser384Ser/c.1152G>A|445|SP100|protein_coding|CODING|NM_001206704.1|14|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser419Ser/c.1257G>A|879|SP100|protein_coding|CODING|NM_003113.3|13|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8456,0.6484,0.7555,0.71,0.63,0.75,,,1.000(P),,0.0000(T),.,-0.067548,3.92,-0.0788,-1.418000,-0.254000,-0.419000,0.000000,0.000000,0.000000,4.5515
missense_variant,SP100,MISSENSE,NM_001080391.1:p.Met433Val/c.1297A>G,Atg/Gtg,MODERATE,,0.179912,0.0635,rs12724,0.48(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B)",0.805(L),-1.0394(T),,chr2,231333763,231333763,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met433Val/c.1297A>G|885|SP100|protein_coding|CODING|NM_001080391.1|14|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met433Val/c.1297A>G|688|SP100|protein_coding|CODING|NM_001206701.1|14|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met433Val/c.1297A>G|480|SP100|protein_coding|CODING|NM_001206702.1|14|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met405Val/c.1213A>G|452|SP100|protein_coding|CODING|NM_001206703.1|13|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met398Val/c.1192A>G|445|SP100|protein_coding|CODING|NM_001206704.1|15|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met433Val/c.1297A>G|879|SP100|protein_coding|CODING|NM_003113.3|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.1729,0.3221,0.25,0.10,0.32,,,1.000(P),"2.48,2.37,2.37,2.37,-1.17,0.41,2.38,2.37,1.04(T,T,T,T,T,T,T,T,T)",0.0000(T),0.305,-2.414046,3.33,-4.21,-1.032000,-1.007000,-0.538000,0.052000,0.000000,0.000000,0.2456
missense_variant,SP100,MISSENSE,NM_001080391.1:p.Met826Thr/c.2477T>C,aTg/aCg,MODERATE,COSM4001536(1),0.727436,0.4603,rs836237,0.64(T),"0.011,0.01(B,B)",0(N),-1.0367(T),,chr2,231406680,231406680,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met826Thr/c.2477T>C|885|SP100|protein_coding|CODING|NM_001080391.1|28|1),"HSMM:DNase1,CD4:H3K36me3,NHEK:H3K36me3,HMEC:DNase1,GM12878:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.8691,0.6945,0.8708,0.82,0.76,0.85,,,1.000(P),1.65(T),0.0000(T),0.126,-0.976512,4.13,-8.27,-1.319000,-2.100000,-2.342000,0.000000,0.000000,0.000000,5.8733
missense_variant,ITM2C,MISSENSE,NM_001287241.1:p.Gly53Ser/c.157G>A,Ggc/Agc,MODERATE,,0.510583,0.8135,rs2289235,1(T),"0.001,0.001(B,B)",-0.11(N),-0.9742(T),,chr2,231738168,231738168,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly53Ser/c.157G>A|230|ITM2C|protein_coding|CODING|NM_001012516.2|2|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly53Ser/c.157G>A|267|ITM2C|protein_coding|CODING|NM_001287241.1|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly53Ser/c.157G>A|267|ITM2C|protein_coding|CODING|NM_030926.5|2|1),5_prime_UTR_variant(MODIFIER||30|c.-30G>A|205|ITM2C|protein_coding|CODING|NM_001287240.1|2|1),intron_variant(MODIFIER|||c.121-2167G>A|220|ITM2C|protein_coding|CODING|NM_001012514.2|1|1)","H1ESC:H3K36me3,GM12878:H3K27ac,GM12878:ZEB1,IMR90:H3K36me3,HepG2:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.5675,0.5303,0.503,0.41,0.25,0.48,,0.287104(N),1.000(P),"1.62,2.01,2.03(T,T,T)",0.0000(T),0.301,-1.673453,4.85,-2.61,-0.783000,-0.144000,0.093000,0.006000,0.739000,0.611000,4.6856
synonymous_variant,ITM2C,SILENT,NM_001287241.1:p.Phe84Phe/c.252C>T,ttC/ttT,LOW,,0.509784,0.8155,rs2289234,,,,,,chr2,231738263,231738263,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe84Phe/c.252C>T|230|ITM2C|protein_coding|CODING|NM_001012516.2|2|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe22Phe/c.66C>T|205|ITM2C|protein_coding|CODING|NM_001287240.1|2|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe84Phe/c.252C>T|267|ITM2C|protein_coding|CODING|NM_001287241.1|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe84Phe/c.252C>T|267|ITM2C|protein_coding|CODING|NM_030926.5|2|1),intron_variant(MODIFIER|||c.121-2072C>T|220|ITM2C|protein_coding|CODING|NM_001012514.2|1|1)","H1ESC:H3K36me3,GM12878:H3K27ac,GM12878:ZEB1,IMR90:H3K36me3,HepG2:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.5654,0.5331,0.504,0.40,0.25,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ITM2C,SILENT,NM_001287241.1:p.Ala86Ala/c.258G>A,gcG/gcA,LOW,,0.509385,0.8135,rs2289233,,,,,,chr2,231738269,231738269,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala86Ala/c.258G>A|230|ITM2C|protein_coding|CODING|NM_001012516.2|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala24Ala/c.72G>A|205|ITM2C|protein_coding|CODING|NM_001287240.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala86Ala/c.258G>A|267|ITM2C|protein_coding|CODING|NM_001287241.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala86Ala/c.258G>A|267|ITM2C|protein_coding|CODING|NM_030926.5|2|1),intron_variant(MODIFIER|||c.121-2066G>A|220|ITM2C|protein_coding|CODING|NM_001012514.2|1|1)","H1ESC:H3K36me3,GM12878:H3K27ac,GM12878:ZEB1,IMR90:H3K36me3,HepG2:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.5654,0.5331,0.504,0.40,0.25,0.48,,,,,,,,,,,,,,,,
synonymous_variant,GPR55,SILENT,NM_005683.3:p.Leu127Leu/c.381A>C,ctA/ctC,LOW,COSM4001539(2),0.496206,0.2679,rs1992186,,,,,,chr2,231775297,231775297,T,G,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu127Leu/c.381A>C|319|GPR55|protein_coding|CODING|NM_005683.3|2|1),"GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4417,0.3199,0.3489,0.53,0.82,0.38,,,,,,,,,,,,,,,,
missense_variant,SPATA3,MISSENSE,NM_139073.3:p.Cys122Ser/c.365G>C,tGc/tCc,MODERATE,,0.216653,0.1736,rs12105962,0.02(D),0.998(D),1.04(L),-1.0406(T),,chr2,231865144,231865144,G,C,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys122Ser/c.365G>C|192|SPATA3|protein_coding|CODING|NM_139073.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF",,,,0.182,0.3256,0.2565,0.23,0.18,0.26,,0.000135(D),0.026(P),,0.0000(T),0.374,1.405615,4.25,4.25,0.655000,2.657000,3.817000,0.527000,1.000000,1.000000,12.4701
missense_variant,ARMC9,MISSENSE,NM_001271466.2:p.Ile180Val/c.538A>G,Ata/Gta,MODERATE,,1,1,rs1626450,0.02(D),0.027(B),-0.55(N),-0.9552(T),,chr2,232087474,232087474,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile180Val/c.538A>G|817|ARMC9|protein_coding|CODING|NM_001271466.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile180Val/c.538A>G|665|ARMC9|protein_coding|CODING|NM_001291656.1|6|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile180Val/c.538A>G|665|ARMC9|protein_coding|CODING|NM_025139.5|6|1)","H1ESC:H3K36me3,GM12878:BATF,GM12878:H3K27ac,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NHEK:H3K36me3,GM12878:BCL11A,HepG2:H3K36me3,HMEC:DNase1,GM12878:DNase1",,,,1,1,1,0.99,0.99,0.99,,0.000205(D),1.000(P),2.37(T),0.0000(T),0.097,2.494435,5.59,5.59,-0.119000,1.371000,6.601000,0.923000,1.000000,1.000000,14.725
missense_variant,ARMC9,MISSENSE,NM_001271466.2:p.Ile180Lys/c.539T>A,aTa/aAa,MODERATE,,1,1,rs1626451,0.16(T),0.002(B),-0.805(N),-0.9529(T),,chr2,232087475,232087475,T,A,hom,"missense_variant(MODERATE|MISSENSE|aTa/aAa|p.Ile180Lys/c.539T>A|817|ARMC9|protein_coding|CODING|NM_001271466.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTa/aAa|p.Ile180Lys/c.539T>A|665|ARMC9|protein_coding|CODING|NM_001291656.1|6|1),missense_variant(MODERATE|MISSENSE|aTa/aAa|p.Ile180Lys/c.539T>A|665|ARMC9|protein_coding|CODING|NM_025139.5|6|1)","H1ESC:H3K36me3,GM12878:BATF,GM12878:H3K27ac,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NHEK:H3K36me3,GM12878:BCL11A,HepG2:H3K36me3,HMEC:DNase1,GM12878:DNase1",,,,1,1,1,1.00,1.00,1.00,,0.000205(D),0.714(P),2.34(T),0.0000(T),0.232,2.916195,5.59,5.59,-0.257000,0.948000,7.379000,0.923000,0.999000,1.000000,12.1346
synonymous_variant,ARMC9,SILENT,NM_001271466.2:p.Leu611Leu/c.1833C>T,ctC/ctT,LOW,COSM149094(2),0.26238,0.2212,rs1669083,,,,,,chr2,232196564,232196564,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu611Leu/c.1833C>T|817|ARMC9|protein_coding|CODING|NM_001271466.2|19|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu611Leu/c.1833C>T|665|ARMC9|protein_coding|CODING|NM_001291656.1|20|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu611Leu/c.1833C>T|665|ARMC9|protein_coding|CODING|NM_025139.5|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2781,0.3084,0.3241,0.28,0.22,0.31,,,,,,,,,,,,,,,,
synonymous_variant,ARMC9,SILENT,NM_001271466.2:p.Thr622Thr/c.1866G>A,acG/acA,LOW,COSM3758017(2),0.294329,0.2222,rs1669084,,,,,,chr2,232196597,232196597,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr622Thr/c.1866G>A|817|ARMC9|protein_coding|CODING|NM_001271466.2|19|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|acG/acA|p.Thr622Thr/c.1866G>A|665|ARMC9|protein_coding|CODING|NM_001291656.1|20|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr622Thr/c.1866G>A|665|ARMC9|protein_coding|CODING|NM_025139.5|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.3372,0.3588,0.32,0.28,0.34,,,,,,,,,,,,,,,,
missense_variant,B3GNT7,MISSENSE,NM_145236.2:p.Val233Ile/c.697G>A,Gtc/Atc,MODERATE,,0.233227,0.2381,rs2290130,0.2(T),0.297(B),1.63(L),-0.9964(T),,chr2,232263127,232263127,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val233Ile/c.697G>A|401|B3GNT7|protein_coding|CODING|NM_145236.2|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2791,0.2378,0.2833,0.21,0.15,0.24,,0.010260(N),1.000(P),1.01(T),0.0000(T),0.057,2.200387,4.71,3.84,0.655000,0.988000,4.133000,0.925000,0.374000,1.000000,10.276
synonymous_variant,NCL,SILENT,NM_005381.2:p.Glu149Glu/c.447G>A,gaG/gaA,LOW,COSM3758020(2),0.416933,0.5992,rs1131171,,,,,,chr2,232326417,232326417,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu149Glu/c.447G>A|710|NCL|protein_coding|CODING|NM_005381.2|3|1),upstream_gene_variant(MODIFIER||1264|||SNORD82||NON_CODING|NR_004398.1||1)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:SP1,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,GM06990:H3K36me3,NHEK:DNase1,HSMM:H3K79me2",,,,0.4356,0.3141,0.2018,0.27,0.45,0.18,,,,,,,,,,,,,,,,
missense_variant,C2orf57,MISSENSE,NM_152614.2:p.Ser261Pro/c.781T>C,Tcc/Ccc,MODERATE,COSM3758021(2),0.928315,0.997,rs10933378,0.82(T),0.004(B),0.145(N),-1.0031(T),,chr2,232458443,232458443,T,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser261Pro/c.781T>C|395|C2orf57|protein_coding|CODING|NM_152614.2|1|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8947,0.9308,0.8917,0.92,0.93,0.91,,0.746248(N),1.000(P),2.05(T),0.0000(T),0.039,1.173460,5.18,-6.39,-1.116000,-1.642000,-0.938000,0.207000,0.004000,0.001000,2.7217
synonymous_variant,DIS3L2,SILENT,NM_152383.4:p.Gln152Gln/c.456A>G,caA/caG,LOW,,0.11242,0.0327,rs11887184,,,,,,chr2,232952286,232952286,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln152Gln/c.456A>G|603|DIS3L2|protein_coding|CODING|NM_001257281.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln152Gln/c.456A>G|249|DIS3L2|protein_coding|CODING|NM_001257282.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln152Gln/c.456A>G|885|DIS3L2|protein_coding|CODING|NM_152383.4|6|1),non_coding_exon_variant(MODIFIER|||n.732A>G||DIS3L2||CODING|NR_046476.1|6|1),non_coding_exon_variant(MODIFIER|||n.732A>G||DIS3L2||CODING|NR_046477.1|6|1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1125,0.1138,0.0775,0.10,0.18,0.07,,,,,,,,,,,,,,,,
missense_variant,DIS3L2,MISSENSE,NM_152383.4:p.Arg609Trp/c.1825C>T,Cgg/Tgg,MODERATE,,0.000199681,0.001,rs370822831,0(D),0.994(D),3.565(H),-0.2166(T),,chr2,233194608,233194608,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg609Trp/c.1825C>T|885|DIS3L2|protein_coding|CODING|NM_152383.4|15|1),intron_variant(MODIFIER|||c.1582-13447C>T|603|DIS3L2|protein_coding|CODING|NM_001257281.1|13|1),non_coding_exon_variant(MODIFIER|||n.2007C>T||DIS3L2||CODING|NR_046477.1|14|1),non_coding_exon_variant(MODIFIER|||n.2028C>T||DIS3L2||CODING|NR_046476.1|15|1)",,,,,0,0,0,0.00,0.00,0.00,,0.000000(D),1.000(D),"1.18,1.18,1.18(T,T,T)",0.3078(T),0.839,4.647772,5.42,4.52,0.639000,1.243000,1.880000,0.995000,1.000000,1.000000,13.5191
missense_variant,ALPP,MISSENSE,NM_001632.3:p.Ile89Leu/c.265A>T,Ata/Tta,MODERATE,,0.388778,0.5377,rs13026692,0.02(D),0.001(B),-0.695(N),-0.9118(T),,chr2,233243981,233243981,A,T,het,missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile89Leu/c.265A>T|535|ALPP|protein_coding|CODING|NM_001632.3|3|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4254,0.4611,0.337,0.30,0.27,0.32,,0.001939(N),1.000(P),-3.79(D),0.0000(T),0.03,1.781661,2.47,-0.159,0.248000,-0.152000,2.236000,0.049000,0.117000,0.950000,4.3616
synonymous_variant,ALPP,SILENT,NM_001632.3:p.Ser199Ser/c.597C>G,tcC/tcG,LOW,,0.948083,0.9345,rs2853374,,,,,,chr2,233244586,233244586,C,G,hom,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser199Ser/c.597C>G|535|ALPP|protein_coding|CODING|NM_001632.3|5|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9622,0.8703,0.9433,0.95,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,ALPP,SILENT,NM_001632.3:p.Tyr268Tyr/c.804T>C,taT/taC,LOW,COSM1406211(1),,,rs2260309,,,,,,chr2,233245141,233245141,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr268Tyr/c.804T>C|535|ALPP|protein_coding|CODING|NM_001632.3|7|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.55,0.64,0.50,,,,,,,,,,,,,,,,
synonymous_variant,ALPPL2,SILENT,NM_031313.2:p.Thr429Thr/c.1287G>C,acG/acC,LOW,,0.76897,0.8988,rs2090543,,,,,,chr2,233274145,233274145,G,C,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr429Thr/c.1287G>C|532|ALPPL2|protein_coding|CODING|NM_031313.2|10|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.774,0.7767,0.8509,,,,,,,,,,,,,,,,,,,
missense_variant,ECEL1,MISSENSE,NM_004826.3:p.Glu423Gln/c.1267G>C,Gag/Cag,MODERATE,,0.00499201,0,rs41265123,0.2(T),"0.185,0.516(B,P)",1.67(L),-0.5352(T),,chr2,233348851,233348851,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu423Gln/c.1267G>C|773|ECEL1|protein_coding|CODING|NM_001290787.1|7|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu423Gln/c.1267G>C|775|ECEL1|protein_coding|CODING|NM_004826.3|7|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000116931.2,,0.002,0.0043,0.0199,0.02,0.01,0.02,,0.000000(D),1.000(D),"-0.87,-0.87(T,T)",0.2378(T),0.161,1.927789,5.33,4.46,-0.225000,1.270000,7.818000,0.065000,0.969000,1.000000,14.2646
missense_variant,ECEL1,MISSENSE,NM_004826.3:p.His328Tyr/c.982C>T,Cat/Tat,MODERATE,COSM4133548(1),0.96266,1,rs1529874,0.52(T),"0.0,0.0(B,B)",-0.69(N),-0.9530(T),,chr2,233349588,233349588,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His328Tyr/c.982C>T|773|ECEL1|protein_coding|CODING|NM_001290787.1|5|1),missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His328Tyr/c.982C>T|775|ECEL1|protein_coding|CODING|NM_004826.3|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000116938.1,,0.998,0.9827,0.9831,0.96,0.90,0.99,,0.000107(N),1.000(P),"-1.55,-1.55(D,D)",0.0000(T),0.07,-1.066221,4.88,4.88,-0.360000,0.813000,5.860000,0.047000,0.995000,1.000000,10.5497
missense_variant,PRSS56,MISSENSE,NM_001195129.1:p.Ala30Thr/c.88G>A,Gcc/Acc,MODERATE,,0.665735,0.8869,rs1550094,,,,,,chr2,233385396,233385396,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala30Thr/c.88G>A|603|PRSS56|protein_coding|CODING|NM_001195129.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6902,0.732,0.663,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS56,SILENT,NM_001195129.1:p.Pro417Pro/c.1251T>G,ccT/ccG,LOW,,0.861621,0.9494,rs2741299,,,,,,chr2,233388813,233388813,T,G,hom,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro417Pro/c.1251T>G|603|PRSS56|protein_coding|CODING|NM_001195129.1|10|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:DNase1",,,,0.8957,0.8545,0.7833,,,,,,,,,,,,,,,,,,,
synonymous_variant,CHRND,SILENT,NM_000751.2:p.Pro4Pro/c.12A>G,ccA/ccG,LOW,COSM149097(4),0.483427,0.6518,rs2245601,,,,,,chr2,233390937,233390937,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4Pro/c.12A>G|517|CHRND|protein_coding|CODING|NM_000751.2|1|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4Pro/c.12A>G|502|CHRND|protein_coding|CODING|NM_001256657.1|1|1),downstream_gene_variant(MODIFIER||512||603|PRSS56|protein_coding|CODING|NM_001195129.1||1),non_coding_exon_variant(MODIFIER|||n.68A>G||CHRND||CODING|NR_046333.1|1|1),non_coding_exon_variant(MODIFIER|||n.68A>G||CHRND||CODING|NR_046334.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HSMM:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,RCV000116730.1,,0.4816,0.5461,0.4483,0.45,0.38,0.48,,,,,,,,,,,,,,,,
missense_variant,CHRNG,MISSENSE,NM_005199.4:p.Glu123Lys/c.367G>A,Gag/Aag,MODERATE,COSM442484(2),0.000199681,0,rs199937736,0.02(D),0.274(B),2.105(M),-0.0840(T),,chr2,233406100,233406100,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu123Lys/c.367G>A|517|CHRNG|protein_coding|CODING|NM_005199.4|5|1),GM12878:PolII,,,,0.001,0,0,0.00,0.00,0.00,,0.000348(D),1.000(D),-1.13(T),0.4152(T),0.734,4.596080,5.16,5.16,0.462000,2.419000,9.824000,0.975000,1.000000,1.000000,18.6433
missense_variant,TIGD1,MISSENSE,NM_145702.1:p.Phe129Leu/c.387T>G,ttT/ttG,MODERATE,,,,,0.04(D),0.002(B),1.38(L),-0.9808(T),,chr2,233414206,233414206,A,C,het,"missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe129Leu/c.387T>G|591|TIGD1|protein_coding|CODING|NM_145702.1|1|1),upstream_gene_variant(MODIFIER||1091||234|EIF4E2|protein_coding|CODING|NM_001276336.1||1),upstream_gene_variant(MODIFIER||1091||189|EIF4E2|protein_coding|CODING|NM_001276337.1||1),upstream_gene_variant(MODIFIER||1091||236|EIF4E2|protein_coding|CODING|NM_001282958.1||1),upstream_gene_variant(MODIFIER||1091||245|EIF4E2|protein_coding|CODING|NM_004846.3||1),downstream_gene_variant(MODIFIER||978|||MIR5001||NON_CODING|NR_049797.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K27me3,GM12878:H3K4me2",,,,,,,,,,,,0.963(N),0.77(T),0.0970(T),0.268,2.413122,0.556,0.556,0.455000,0.465000,0.507000,0.952000,0.955000,0.696000,.
synonymous_variant,TIGD1,SILENT,NM_145702.1:p.Glu127Glu/c.381A>G,gaA/gaG,LOW,,,,,,,,,,chr2,233414212,233414212,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu127Glu/c.381A>G|591|TIGD1|protein_coding|CODING|NM_145702.1|1|1),upstream_gene_variant(MODIFIER||1085||234|EIF4E2|protein_coding|CODING|NM_001276336.1||1),upstream_gene_variant(MODIFIER||1085||189|EIF4E2|protein_coding|CODING|NM_001276337.1||1),upstream_gene_variant(MODIFIER||1085||236|EIF4E2|protein_coding|CODING|NM_001282958.1||1),upstream_gene_variant(MODIFIER||1085||245|EIF4E2|protein_coding|CODING|NM_004846.3||1),downstream_gene_variant(MODIFIER||972|||MIR5001||NON_CODING|NR_049797.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K27me3,GM12878:H3K4me2",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TIGD1,MISSENSE,NM_145702.1:p.Val122Glu/c.365T>A,gTg/gAg,MODERATE,COSM3396479(1),,,,1(T),0.0(B),-2.32(N),-0.9733(T),,chr2,233414228,233414228,A,T,het,"missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val122Glu/c.365T>A|591|TIGD1|protein_coding|CODING|NM_145702.1|1|1),upstream_gene_variant(MODIFIER||1069||234|EIF4E2|protein_coding|CODING|NM_001276336.1||1),upstream_gene_variant(MODIFIER||1069||189|EIF4E2|protein_coding|CODING|NM_001276337.1||1),upstream_gene_variant(MODIFIER||1069||236|EIF4E2|protein_coding|CODING|NM_001282958.1||1),upstream_gene_variant(MODIFIER||1069||245|EIF4E2|protein_coding|CODING|NM_004846.3||1),downstream_gene_variant(MODIFIER||956|||MIR5001||NON_CODING|NR_049797.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2",,,,,,,,,,,,1.000(N),1.53(T),0.0112(T),0.137,-1.920687,0.556,-1.11,-0.458000,-0.426000,-0.489000,0.352000,0.358000,0.118000,.
missense_variant,EFHD1,MISSENSE,NM_025202.3:p.Ala31Val/c.92C>T,gCc/gTc,MODERATE,COSM4133549(1),0.0577077,0.0308,rs112941683,0.28(T),0.145(B),1.245(L),-1.1599(T),,chr2,233498506,233498506,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala31Val/c.92C>T|239|EFHD1|protein_coding|CODING|NM_025202.3|1|1),intron_variant(MODIFIER|||c.14+27623C>T|143|EFHD1|protein_coding|CODING|NM_001243252.1|1|1)","K562:Max,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.092,0.0173,0.0507,,,,,0.774209(N),0.948(N),-0.09(T),0.0040(T),0.161,0.863097,2.5,1.45,0.313000,1.419000,-0.231000,0.413000,0.324000,0.000000,10.5515
missense_variant,EFHD1,MISSENSE,NM_025202.3:p.Lys186Arg/c.557A>G,aAa/aGa,MODERATE,COSM3758030(2),0.346446,0.4891,rs11550699,0.27(T),"0.001,0.013(B,B)",1.695(L),-0.9323(T),,chr2,233537125,233537125,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys90Arg/c.269A>G|143|EFHD1|protein_coding|CODING|NM_001243252.1|3|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys186Arg/c.557A>G|239|EFHD1|protein_coding|CODING|NM_025202.3|3|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3834,0.464,0.3469,0.31,0.18,0.37,,0.000164(N),0.392(P),"0.74,0.74,0.74,0.74,0.74(T,T,T,T,T)",0.0000(T),0.208,1.148271,4.96,-0.41,-0.379000,-0.331000,0.160000,0.370000,0.930000,0.388000,4.7049
missense_variant,KCNJ13,MISSENSE,NM_002242.4:p.Thr175Ile/c.524C>T,aCa/aTa,MODERATE,COSM149098(5),0.360024,0.3532,rs1801251,0.06(T),0.0(B),0.55(N),-1.1068(T),,chr2,233633460,233633460,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr95Ile/c.284C>T|280|KCNJ13|protein_coding|CODING|NM_001172417.1|3|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr175Ile/c.524C>T|360|KCNJ13|protein_coding|CODING|NM_002242.4|3|1),3_prime_UTR_variant(MODIFIER||3|c.*3C>T|94|KCNJ13|protein_coding|CODING|NM_001172416.1|3|1),intron_variant(MODIFIER|||c.532+7314G>A|1320|GIGYF2|protein_coding|CODING|NM_001103147.1|9|1),intron_variant(MODIFIER|||c.532+7314G>A|1299|GIGYF2|protein_coding|CODING|NM_001103146.1|8|1),intron_variant(MODIFIER|||c.532+7314G>A|1293|GIGYF2|protein_coding|CODING|NM_001103148.1|7|1),intron_variant(MODIFIER|||c.532+7314G>A|1299|GIGYF2|protein_coding|CODING|NM_015575.3|10|1),intron_variant(MODIFIER|||n.645+7314G>A||GIGYF2||CODING|NR_103492.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.3055,0.2873,0.32,0.26,0.35,,0.874895(N),1.000(P),"1.88,1.88,-2.84(T,T,D)",0.0000(T),0.395,-1.162850,5.86,2.27,-2.269000,-0.082000,1.366000,0.183000,0.889000,0.008000,10.4877
synonymous_variant,GIGYF2,SILENT,NM_001103147.1:p.Glu539Glu/c.1617G>A,gaG/gaA,LOW,,0.105032,0.1657,rs2305138,,,,,,chr2,233660846,233660846,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu518Glu/c.1554G>A|1299|GIGYF2|protein_coding|CODING|NM_001103146.1|14|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu539Glu/c.1617G>A|1320|GIGYF2|protein_coding|CODING|NM_001103147.1|16|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu512Glu/c.1536G>A|1293|GIGYF2|protein_coding|CODING|NM_001103148.1|13|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu518Glu/c.1554G>A|1299|GIGYF2|protein_coding|CODING|NM_015575.3|16|1),non_coding_exon_variant(MODIFIER|||n.1667G>A||GIGYF2||CODING|NR_103492.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0879,0.0432,0.0547,0.08,0.12,0.05,,,,,,,,,,,,,,,,
synonymous_variant,GIGYF2,SILENT,NM_001103147.1:p.Gln1001Gln/c.3003A>G,caA/caG,LOW,COSM1406294(1),0.640375,0.6458,rs3816334,0(D),0.0(B),,-0.9662(T),,chr2,233708806,233708806,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln980Gln/c.2940A>G|1299|GIGYF2|protein_coding|CODING|NM_001103146.1|24|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln1001Gln/c.3003A>G|1320|GIGYF2|protein_coding|CODING|NM_001103147.1|26|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln974Gln/c.2922A>G|1293|GIGYF2|protein_coding|CODING|NM_001103148.1|23|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln980Gln/c.2940A>G|1299|GIGYF2|protein_coding|CODING|NM_015575.3|26|1),non_coding_exon_variant(MODIFIER|||n.3053A>G||GIGYF2||CODING|NR_103492.1|23|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3599,0.6945,0.7137,0.68,0.74,0.65,,,0.000(P),-1.23(T),0.0000(T),.,-0.913782,5.17,2.29,-0.215000,0.185000,0.963000,0.650000,0.969000,1.000000,5.7189
synonymous_variant,NGEF,SILENT,NM_019850.2:p.Ile351Ile/c.1053T>C,atT/atC,LOW,,0.941494,0.87,rs895432,,,,-1.0124(T),,chr2,233757697,233757697,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile259Ile/c.777T>C|618|NGEF|protein_coding|CODING|NM_001114090.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile351Ile/c.1053T>C|710|NGEF|protein_coding|CODING|NM_019850.2|7|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.9121,0.9496,0.9652,0.97,0.99,0.96,,,0.000(P),,0.0000(T),.,0.390507,5.16,3.35,-0.215000,0.588000,0.365000,0.435000,1.000000,0.994000,7.4015
synonymous_variant,NGEF,SILENT,NM_019850.2:p.Pro269Pro/c.807C>T,ccC/ccT,LOW,COSM1406318(1),0.717252,0.5625,rs778354,,,,,,chr2,233785015,233785015,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro177Pro/c.531C>T|618|NGEF|protein_coding|CODING|NM_001114090.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro269Pro/c.807C>T|710|NGEF|protein_coding|CODING|NM_019850.2|5|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6063,0.8156,0.7565,0.79,0.84,0.77,,,,,,,,,,,,,,,,
missense_variant,NGEF,MISSENSE,NM_019850.2:p.Met111Thr/c.332T>C,aTg/aCg,MODERATE,,0.842452,0.8433,rs4973588,,,0.55(N),-1.0217(T),,chr2,233834975,233834975,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met111Thr/c.332T>C|710|NGEF|protein_coding|CODING|NM_019850.2|3|1),"IMR90:H3K27me3,HepG2:H3K36me3",,,,0.68,0.8963,0.8459,0.87,0.92,0.85,,,1.000(P),,0.0000(T),.,-2.384650,3.71,-7.42,-1.384000,-2.223000,-1.327000,0.013000,0.000000,0.000000,5.4218
missense_variant,NEU2,MISSENSE,NM_005383.2:p.His168Asn/c.502C>A,Cac/Aac,MODERATE,COSM3766544(1),0.232029,0.0298,rs2233391,0.14(T),0.102(B),1.935(M),-1.0115(T),,chr2,233899126,233899126,C,A,hom,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His168Asn/c.502C>A|380|NEU2|protein_coding|CODING|NM_005383.2|2|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.2065,0.3026,0.502,0.39,0.21,0.48,,0.150453(N),1.000(P),-2.24(D),0.0000(T),0.018,0.098352,4.88,0.688,0.561000,0.097000,0.044000,0.019000,0.014000,0.001000,4.0599
missense_variant,INPP5D,MISSENSE,NM_001017915.2:p.Arg245His/c.734G>A,cGt/cAt,MODERATE,,0.20028,0.0179,rs1135173,,,,,,chr2,234054873,234054873,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg245His/c.734G>A|1160|INPP5D|protein_coding|CODING|NM_001017915.2|6|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg244His/c.731G>A|1159|INPP5D|protein_coding|CODING|NM_005541.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2566,0.3184,0.4672,0.38,0.12,0.49,,,,,,,,,,,,,,,,
missense_variant,ATG16L1,MISSENSE,NM_030803.6:p.Thr300Ala/c.898A>G,Act/Gct,MODERATE,COSM3758033(2),0.395966,0.3224,rs2241880,0.57(T),"0.0,0.001,0.005,0.0,0.001(B,B,B,B,B)",-0.255(N),-1.0071(T),,chr2,234183368,234183368,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr216Ala/c.646A>G|523|ATG16L1|protein_coding|CODING|NM_001190266.1|9|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr184Ala/c.550A>G|491|ATG16L1|protein_coding|CODING|NM_001190267.1|9|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr281Ala/c.841A>G|588|ATG16L1|protein_coding|CODING|NM_017974.3|8|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr300Ala/c.898A>G|607|ATG16L1|protein_coding|CODING|NM_030803.6|9|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr137Ala/c.409A>G|444|ATG16L1|protein_coding|CODING|NM_198890.2|5|1),upstream_gene_variant(MODIFIER||1004|||SCARNA5||NON_CODING|NR_003008.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3","Crohn_s_disease,Crohn_s_disease,Crohn_s_disease",RCV000001189.2,,0.4959,0.3213,0.5368,0.46,0.32,0.52,,0.069914(N),0.998(P),"0.88,0.92,1.09,0.99,1.71,0.81,0.91(T,T,T,T,T,T,T)",0.0000(T),0.192,1.504884,5.71,-11.4,0.528000,-1.999000,-0.395000,0.985000,0.001000,0.000000,12.6604
missense_variant,SAG,MISSENSE,NM_000541.4:p.Val403Ile/c.1207G>A,Gtt/Att,MODERATE,,0.302915,0.3988,rs1046974,0.2(T),0.0(B),0(N),-0.9053(T),,chr2,234255547,234255547,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val403Ile/c.1207G>A|405|SAG|protein_coding|CODING|NM_000541.4|16|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4458,0.245,0.4344,0.31,0.12,0.40,,0.095496(N),1.000(P),3.25(T),0.0000(T),0.03,0.153569,4.39,-2.67,-0.934000,-0.720000,0.089000,0.015000,0.000000,0.000000,6.9618
synonymous_variant,USP40,SILENT,NM_018218.2:p.His1216His/c.3648T>C,caT/caC,LOW,COSM3758037(4),0.25619,0.1438,rs2971863,,,,,,chr2,234386134,234386134,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His1216His/c.3648T>C|1247|USP40|protein_coding|CODING|NM_018218.2|31|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1186,0.1542,0.2455,0.28,0.42,0.21,,,,,,,,,,,,,,,,
missense_variant,USP40,MISSENSE,NM_018218.2:p.Arg1123Cys/c.3367C>T,Cgt/Tgt,MODERATE,COSM3758038(2),0.40016,0.1944,rs1048603,0.12(T),0.001(B),-0.895(N),-1.0206(T),,chr2,234394487,234394487,G,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1123Cys/c.3367C>T|1247|USP40|protein_coding|CODING|NM_018218.2|28|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.272,0.2709,0.3618,0.42,0.65,0.32,,0.835760(N),1.000(P),"3.59,3.59,3.59(T,T,T)",0.0000(T),0.181,0.677480,5.75,-2.41,-1.189000,-0.485000,0.262000,0.138000,0.000000,0.316000,12.5667
synonymous_variant,USP40,SILENT,NM_018218.2:p.Tyr1095Tyr/c.3285T>C,taT/taC,LOW,COSM3758041(2),0.256789,0.1458,rs2603547,,,,-0.9210(T),,chr2,234394569,234394569,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1095Tyr/c.3285T>C|1247|USP40|protein_coding|CODING|NM_018218.2|28|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1196,0.1542,0.2455,0.27,0.41,0.21,,,0.011(P),,0.0000(T),.,-1.324183,5.75,2.03,-1.702000,-0.094000,0.191000,0.003000,0.004000,0.026000,10.1403
synonymous_variant,USP40,SILENT,NM_018218.2:p.Gly1091Gly/c.3273T>C,ggT/ggC,LOW,,,,rs375200887,,,,-1.0842(T),,chr2,234394581,234394581,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1091Gly/c.3273T>C|1247|USP40|protein_coding|CODING|NM_018218.2|28|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,,0.831(N),,0.0494(T),.,-0.406685,5.75,-11.5,-1.398000,-2.078000,-1.448000,0.151000,0.000000,0.000000,5.2081
missense_variant,USP40,MISSENSE,NM_018218.2:p.Val678Ala/c.2033T>C,gTc/gCc,MODERATE,COSM3758043(2),0.180112,0.1458,rs838543,0.13(T),"0.01,0.023(B,B)",1.725(L),-1.0886(T),,chr2,234432017,234432017,A,G,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val678Ala/c.2033T>C|1247|USP40|protein_coding|CODING|NM_018218.2|15|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1176,0.134,0.2435,0.21,0.21,0.21,,,0.000(P),"0.63,0.63,0.63(T,T,T)",0.0000(T),0.271,1.989024,5.57,5.57,0.533000,2.119000,2.928000,0.956000,0.948000,0.966000,14.3088
synonymous_variant,USP40,SILENT,NM_018218.2:p.Leu399Leu/c.1195C>T,Ctg/Ttg,LOW,,0.819888,0.8542,rs2167884,,,,,,chr2,234449316,234449316,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu399Leu/c.1195C>T|1247|USP40|protein_coding|CODING|NM_018218.2|9|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8824,0.866,0.7565,0.79,0.78,0.79,,,,,,,,,,,,,,,,
missense_variant,UGT1A8,MISSENSE,NM_019076.4:p.Ala173Gly/c.518C>G,gCt/gGt,MODERATE,,0.25599,0.506,rs1042597,0.08(T),"0.116,0.116(B,B)",-0.215(N),-0.9275(T),,chr2,234526871,234526871,C,G,het,missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala173Gly/c.518C>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),"HMEC:H3K27me3,HepG2:H3K27me3",,,,0.2791,0.2954,0.2495,0.19,0.08,0.25,,,1.000(P),-0.21(T),0.0000(T),0.06,-0.355915,3.96,-0.18,-1.422000,-0.052000,0.056000,0.004000,0.002000,0.000000,6.5183
synonymous_variant,UGT1A7,SILENT,NM_019077.2:p.Pro11Pro/c.33C>A,ccC/ccA,LOW,COSM3758045(2),0.297324,0.1964,rs7577677,,,,,,chr2,234590616,234590616,C,A,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro11Pro/c.33C>A|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.855+63408C>A|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+44593C>A|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+9181C>A|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1)",HepG2:H3K27me3,,,,0.4274,0.2637,0.3598,0.35,0.27,0.39,,,,,,,,,,,,,,,,
missense_variant,UGT1A7,MISSENSE,NM_019077.2:p.Asn129Lys/c.387T>G,aaT/aaG,MODERATE,COSM3758046(3),0.576278,0.4385,rs17868323,0.31(T),"0.001,0.001(B,B)",-0.135(N),-0.9443(T),,chr2,234590970,234590970,T,G,hom,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn129Lys/c.387T>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.855+63762T>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+44947T>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+9535T>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1)",HepG2:H3K27me3,,,,0.6943,0.5072,0.6034,,,,,,1.000(P),3.38(T),0.0000(T),0.041,-1.149935,4.51,-9.01,-1.473000,-3.135000,-13.134000,0.037000,0.001000,0.000000,8.2035
synonymous_variant,UGT1A7,SILENT,NM_019077.2:p.Arg131Arg/c.391C>A,Cga/Aga,LOW,COSM3758047(2),0.576278,0.4385,rs17863778,,,,,,chr2,234590974,234590974,C,A,hom,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg131Arg/c.391C>A|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.855+63766C>A|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+44951C>A|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+9539C>A|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1)",HepG2:H3K27me3,,,,0.6943,0.5072,0.6034,,,,,,,,,,,,,,,,,,,
missense_variant,UGT1A7,MISSENSE,NM_019077.2:p.Arg131Gln/c.392G>A,cGa/cAa,MODERATE,COSM3758048(2),0.576278,0.4385,rs17868324,0.32(T),"0.001,0.001(B,B)",0.19(N),-0.9990(T),,chr2,234590975,234590975,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg131Gln/c.392G>A|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.855+63767G>A|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+44952G>A|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+9540G>A|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1)",HepG2:H3K27me3,,,,0.6943,0.5072,0.6034,,,,,,1.000(P),0.23(T),0.0000(T),0.095,0.535926,4.51,-9.01,-1.305000,-2.128000,-0.670000,0.031000,0.000000,0.000000,5.8774
missense_variant,UGT1A7,MISSENSE,NM_019077.2:p.Trp208Arg/c.622T>C,Tgg/Cgg,MODERATE,COSM3758049(1),0.297724,0.1964,rs11692021,0.2(T),"0.001,0.001(B,B)",0.58(N),-0.9913(T),,chr2,234591205,234591205,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp208Arg/c.622T>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.855+63997T>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+45182T>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+9770T>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1)",HepG2:H3K27me3,,,,0.4274,0.2637,0.3598,0.35,0.27,0.39,,,1.000(P),3.39(T),0.0000(T),0.458,-0.835946,4.16,-8.32,-1.814000,-4.859000,-4.177000,0.113000,0.000000,0.000000,3.594
synonymous_variant,UGT1A7,SILENT,NM_019077.2:p.Leu252Leu/c.756G>A,ttG/ttA,LOW,COSM4001548(1),0.172923,0.2143,rs17864686,,,,-1.0528(T),,chr2,234591339,234591339,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu252Leu/c.756G>A|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.855+64131G>A|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+45316G>A|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+9904G>A|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1)",HepG2:H3K27me3,,,,0.2178,0.1542,0.2197,0.18,0.11,0.22,,,0.000(P),,0.0001(T),.,-0.687085,3.59,2.71,0.485000,0.737000,-0.373000,0.251000,0.938000,0.000000,8.102
missense_variant,UGT1A6,MISSENSE,NM_001072.3:p.Ser7Ala/c.19T>G,Tca/Gca,MODERATE,COSM3758050(2),0.36222,0.2242,rs6759892,1(T),"0.0,0.0(B,B)",-0.845(N),-0.9889(T),,chr2,234601669,234601669,T,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser7Ala/c.19T>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.856-74011T>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+55646T>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+20234T>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+10231T>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.-7-776T>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.4765,0.3444,0.3827,0.40,0.39,0.41,,,1.000(P),"1.61,0.33(T,T)",0.0000(T),0.007,-1.395150,4.58,-0.718,-0.729000,-0.187000,-0.178000,0.009000,0.000000,0.000000,0.7682
synonymous_variant,UGT1A6,SILENT,NM_001072.3:p.Leu105Leu/c.315A>G,ctA/ctG,LOW,COSM3758051(1),0.342652,0.2242,rs1105880,,,,,,chr2,234601965,234601965,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu105Leu/c.315A>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.856-73715A>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+55942A>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+20530A>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+10527A>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.-7-480A>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.4673,0.304,0.333,0.36,0.37,0.36,,,,,,,,,,,,,,,,
missense_variant,UGT1A6,MISSENSE,NM_001072.3:p.Thr181Ala/c.541A>G,Aca/Gca,MODERATE,,0.277556,0.1964,rs2070959,0.61(T),0.001(B),-0.085(N),-1.0209(T),,chr2,234602191,234602191,A,G,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr181Ala/c.541A>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.856-73489A>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+56168A>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+20756A>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+10753A>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.-7-254A>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.4182,0.2233,0.3101,0.30,0.25,0.33,,,1.000(P),"0.28,0.28(T,T)",0.0000(T),0.016,-1.475651,5.31,-9.43,-0.959000,-1.892000,-0.930000,0.006000,0.000000,0.000000,11.5483
missense_variant,UGT1A6,MISSENSE,NM_001072.3:p.Arg184Ser/c.552A>C,agA/agC,MODERATE,COSM3758052(2),0.324681,0.2242,rs1105879,0.11(T),0.103(B),1.4(L),-0.9555(T),,chr2,234602202,234602202,A,C,het,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg184Ser/c.552A>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.856-73478A>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.855+56179A>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+20767A>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+10764A>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.-7-243A>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.4673,0.3012,0.333,0.34,0.31,0.36,,,0.999(P),"0.26,3.34(T,T)",0.0000(T),0.214,1.597632,5.31,-3.31,0.533000,-0.435000,-0.753000,0.434000,0.000000,0.000000,9.9644
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.Leu48Ser/c.143T>C,tTg/tCg,MODERATE,,0.144968,0.2331,rs3755323,0(D),"0.261,0.261(B,B)",1.55(L),-1.0025(T),,chr2,234621780,234621780,T,C,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu48Ser/c.143T>C|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53900T>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53900T>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40345T>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30342T>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19269T>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19269T>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2219,0.1009,0.0964,0.09,0.10,0.09,,0.277880(N),0.000(P),0.09(T),0.0004(T),0.309,3.209774,4.83,4.83,0.449000,1.836000,2.602000,0.001000,0.002000,0.059000,14.477
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.Asp50Glu/c.150C>G,gaC/gaG,MODERATE,,0.144968,0.2331,rs3755322,1(T),"0.001,0.001(B,B)",-3.225(N),-1.0070(T),,chr2,234621787,234621787,C,G,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp50Glu/c.150C>G|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53893C>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53893C>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40352C>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30349C>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19276C>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19276C>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2219,0.1009,0.0964,0.09,0.10,0.09,,0.131538(N),0.499(P),0.47(T),0.0000(T),0.045,-1.005415,4.83,3.0,-0.232000,0.484000,-0.590000,0.005000,0.110000,0.000000,3.6704
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.Leu63Pro/c.188T>C,cTg/cCg,MODERATE,,0.144968,0.2331,rs3755321,1(T),"0.0,0.0(B,B)",-3.15(N),-0.9904(T),,chr2,234621825,234621825,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu63Pro/c.188T>C|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53855T>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53855T>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40390T>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30387T>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19314T>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19314T>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2219,0.1009,0.0964,0.09,0.10,0.09,,0.000000(N),0.000(P),0.22(T),0.0000(T),0.131,-0.761647,4.83,3.96,-1.061000,0.497000,1.966000,0.001000,0.001000,0.010000,11.3952
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.His142Asn/c.424C>A,Cat/Aat,MODERATE,COSM4001552(1),0.144369,0.2331,rs3755320,0.18(T),"0.0,0.0(B,B)",-0.945(N),-1.0732(T),,chr2,234622061,234622061,C,A,het,"missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His142Asn/c.424C>A|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53619C>A|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53619C>A|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40626C>A|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30623C>A|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19550C>A|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19550C>A|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.1009,0.0964,0.09,0.10,0.09,,0.543003(N),1.000(P),0.18(T),0.0001(T),0.028,-0.490810,4.7,3.3,-0.363000,0.665000,-0.036000,0.115000,0.346000,0.000000,5.9248
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.Ala158Gly/c.473C>G,gCg/gGg,MODERATE,COSM4001553(1),0.144968,0.2331,rs12475068,1(T),"0.0,0.0(B,B)",-2.715(N),-0.9816(T),,chr2,234622110,234622110,C,G,het,"missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala158Gly/c.473C>G|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53570C>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53570C>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40675C>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30672C>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19599C>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19599C>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2219,0.1009,0.0964,0.09,0.10,0.09,,0.000000(N),0.000(P),0.39(T),0.0000(T),0.123,-0.476419,4.88,4.88,-0.216000,1.079000,3.810000,0.001000,0.018000,1.000000,15.3321
synonymous_variant,UGT1A5,SILENT,NM_019078.1:p.Leu215Leu/c.645C>T,ctC/ctT,LOW,,0.144169,0.2331,rs17868333,,,,,,chr2,234622282,234622282,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu215Leu/c.645C>T|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53398C>T|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53398C>T|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40847C>T|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30844C>T|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19771C>T|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19771C>T|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2178,0.1009,0.0964,0.09,0.10,0.09,,,,,,,,,,,,,,,,
synonymous_variant,UGT1A5,SILENT,NM_019078.1:p.Ala219Ala/c.657C>T,gcC/gcT,LOW,COSM4001555(1),,,rs17863790,,,,,,chr2,234622294,234622294,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala219Ala/c.657C>T|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53386C>T|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53386C>T|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40859C>T|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30856C>T|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19783C>T|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19783C>T|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.09,0.10,0.09,,,,,,,,,,,,,,,,
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.His225Tyr/c.673C>T,Cat/Tat,MODERATE,COSM4001556(1),,,rs17862867,0.37(T),"0.363,0.363(B,B)",0.32(N),-1.0095(T),,chr2,234622310,234622310,C,T,het,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His225Tyr/c.673C>T|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53370C>T|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53370C>T|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40875C>T|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30872C>T|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19799C>T|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19799C>T|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.09,0.10,0.09,,0.994851(N),1.000(P),0.23(T),0.0002(T),0.032,0.963670,4.88,-3.51,-1.268000,-1.140000,-3.083000,0.017000,0.001000,0.000000,5.9375
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.Leu248Ile/c.742C>A,Ctt/Att,MODERATE,COSM4001557(1),0.144169,0.2331,rs2012736,0.43(T),"0.026,0.026(B,B)",1.4(L),-1.0566(T),,chr2,234622379,234622379,C,A,het,"missense_variant(MODERATE|MISSENSE|Ctt/Att|p.Leu248Ile/c.742C>A|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53301C>A|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53301C>A|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40944C>A|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30941C>A|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19868C>A|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19868C>A|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2178,0.1009,0.0964,0.03,0.03,0.03,,0.220206(N),0.999(P),-0.03(T),0.0005(T),0.019,-0.087861,4.77,-9.55,-2.684000,-3.693000,-2.348000,0.000000,0.000000,0.000000,14.3137
missense_variant,UGT1A5,MISSENSE,NM_019078.1:p.Val249Leu/c.745G>C,Gtc/Ctc,MODERATE,COSM4001558(2),0.144169,0.2331,rs17862868,0.39(T),"0.001,0.001(B,B)",-1.495(N),-1.0097(T),,chr2,234622382,234622382,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val249Leu/c.745G>C|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.856-53298G>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-53298G>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+40947G>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+30944G>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+19871G>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+19871G>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2178,0.1009,0.0964,0.03,0.03,0.03,,0.220227(N),0.999(P),0.43(T),0.0001(T),0.055,-0.908016,4.88,-7.08,-0.942000,-1.436000,-3.201000,0.003000,0.000000,0.000000,5.6925
synonymous_variant,UGT1A4,SILENT,NM_007120.2:p.Thr14Thr/c.42A>G,acA/acG,LOW,,0.000399361,0,rs62191899,,,,,,chr2,234627508,234627508,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr14Thr/c.42A>G|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1),intron_variant(MODIFIER|||c.856-48172A>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-48172A>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+46073A>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+36070A>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+24997A>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+24997A>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.867+5004A>G|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1)","HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,UGT1A4,SILENT,NM_007120.2:p.Cys157Cys/c.471T>C,tgT/tgC,LOW,,0.907947,0.9742,rs2011404,,,,,,chr2,234627937,234627937,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys157Cys/c.471T>C|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1),intron_variant(MODIFIER|||c.856-47743T>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-47743T>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.855+46502T>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.855+36499T>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+25426T>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+25426T>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.867+5433T>C|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1)","HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8558,0.889,0.8141,0.87,0.95,0.83,,,,,,,,,,,,,,,,
missense_variant,UGT1A3,MISSENSE,NM_019093.2:p.Trp11Arg/c.31T>C,Tgg/Cgg,MODERATE,COSM1406408(1),0.534944,0.3552,rs3821242,0.24(T),"0.001,0.001(B,B)",-0.895(N),-0.9544(T),,chr2,234637803,234637803,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp11Arg/c.31T>C|534|UGT1A3|protein_coding|CODING|NM_019093.2|1|1),intron_variant(MODIFIER|||c.856-37877T>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-37877T>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.856-37877T>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.856-37877T>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+35292T>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+35292T>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.867+15299T>C|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.867+9470T>C|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6421,0.5101,0.4145,0.51,0.63,0.44,,,1.000(P),0.29(T),0.0000(T),0.042,0.289422,3.52,-6.75,-2.727000,-2.064000,-3.001000,0.000000,0.000000,0.000000,1.1348
synonymous_variant,UGT1A3,SILENT,NM_019093.2:p.Glu27Glu/c.81G>A,gaG/gaA,LOW,COSM1406409(1),0.572484,0.3571,rs6706232,,,,,,chr2,234637853,234637853,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu27Glu/c.81G>A|534|UGT1A3|protein_coding|CODING|NM_019093.2|1|1),intron_variant(MODIFIER|||c.856-37827G>A|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-37827G>A|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.856-37827G>A|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.856-37827G>A|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+35342G>A|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+35342G>A|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.867+15349G>A|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.867+9520G>A|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6421,0.5187,0.4145,0.55,0.75,0.45,,,,,,,,,,,,,,,,
missense_variant,UGT1A3,MISSENSE,NM_019093.2:p.Val47Ala/c.140T>C,gTc/gCc,MODERATE,COSM1406410(1),0.434105,0.126,rs6431625,0.09(T),"0.005,0.005(B,B)",1.66(L),-1.0156(T),,chr2,234637912,234637912,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val47Ala/c.140T>C|534|UGT1A3|protein_coding|CODING|NM_019093.2|1|1),intron_variant(MODIFIER|||c.856-37768T>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-37768T>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.856-37768T>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.856-37768T>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+35401T>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+35401T>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.867+15408T>C|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.867+9579T>C|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4417,0.4294,0.3469,0.48,0.66,0.39,,,1.000(P),-0.0(T),0.0000(T),0.08,0.189247,4.35,-6.82,-1.952000,-2.173000,0.181000,0.005000,0.000000,0.000000,19.0734
synonymous_variant,UGT1A3,SILENT,NM_019093.2:p.Ala159Ala/c.477A>G,gcA/gcG,LOW,,0.573083,0.3571,rs7574296,,,,,,chr2,234638249,234638249,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala159Ala/c.477A>G|534|UGT1A3|protein_coding|CODING|NM_019093.2|1|1),intron_variant(MODIFIER|||c.856-37431A>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-37431A>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.856-37431A>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.856-37431A>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.861+35738A>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.60+35738A>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.867+15745A>G|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.867+9916A>G|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6421,0.5216,0.4155,0.55,0.75,0.45,,,,,,,,,,,,,,,,
synonymous_variant,DNAJB3,SILENT,NM_001001394.3:p.Ser126Ser/c.378A>G,tcA/tcG,LOW,,0.00998403,0,rs34135810,,,,,,chr2,234652185,234652185,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser126Ser/c.378A>G|145|DNAJB3|protein_coding|CODING|NM_001001394.3|1|1),intron_variant(MODIFIER|||c.856-23495T>C|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-23495T>C|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.856-23495T>C|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.856-23495T>C|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.862-23495T>C|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.61-23495T>C|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.868-23495T>C|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.868-23495T>C|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1),intron_variant(MODIFIER|||c.867+13546T>C|534|UGT1A3|protein_coding|CODING|NM_019093.2|1|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0297,0.0072,0.0129,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,DNAJB3,SILENT,NM_001001394.3:p.Gly72Gly/c.216G>C,ggG/ggC,LOW,,0.145966,0.0407,rs13009407,,,,,,chr2,234652347,234652347,C,G,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly72Gly/c.216G>C|145|DNAJB3|protein_coding|CODING|NM_001001394.3|1|1),intron_variant(MODIFIER|||c.856-23333C>G|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-23333C>G|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.856-23333C>G|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.856-23333C>G|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.862-23333C>G|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.61-23333C>G|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.868-23333C>G|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.868-23333C>G|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1),intron_variant(MODIFIER|||c.867+13708C>G|534|UGT1A3|protein_coding|CODING|NM_019093.2|1|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3313,0.1628,0.2356,0.19,0.06,0.26,,,,,,,,,,,,,,,,
synonymous_variant,DNAJB3,SILENT,NM_001001394.3:p.Ala27Ala/c.81G>A,gcG/gcA,LOW,,0.136581,0.2242,rs62191918,,,,,,chr2,234652482,234652482,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala27Ala/c.81G>A|145|DNAJB3|protein_coding|CODING|NM_001001394.3|1|1),intron_variant(MODIFIER|||c.856-23198C>T|530|UGT1A8|protein_coding|CODING|NM_019076.4|1|1),intron_variant(MODIFIER|||c.856-23198C>T|530|UGT1A10|protein_coding|CODING|NM_019075.2|1|1),intron_variant(MODIFIER|||c.856-23198C>T|530|UGT1A9|protein_coding|CODING|NM_021027.2|1|1),intron_variant(MODIFIER|||c.856-23198C>T|530|UGT1A7|protein_coding|CODING|NM_019077.2|1|1),intron_variant(MODIFIER|||c.862-23198C>T|532|UGT1A6|protein_coding|CODING|NM_001072.3|1|1),intron_variant(MODIFIER|||c.61-23198C>T|265|UGT1A6|protein_coding|CODING|NM_205862.1|2|1),intron_variant(MODIFIER|||c.868-23198C>T|534|UGT1A5|protein_coding|CODING|NM_019078.1|1|1),intron_variant(MODIFIER|||c.868-23198C>T|534|UGT1A4|protein_coding|CODING|NM_007120.2|1|1),intron_variant(MODIFIER|||c.867+13843C>T|534|UGT1A3|protein_coding|CODING|NM_019093.2|1|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1994,0.0922,0.0656,0.07,0.08,0.06,,,,,,,,,,,,,,,,
missense_variant,MROH2A,MISSENSE,NM_001287395.1:p.Ala11Asp/c.32C>A,gCc/gAc,MODERATE,,0.829273,0.869,rs6431631,1(T),,,-1.0015(T),,chr2,234688036,234688036,C,A,hom,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala11Asp/c.32C>A|1688|MROH2A|protein_coding|CODING|NM_001287395.1|2|1),HepG2:H3K27me3,,,,0.8252,0.8026,0.7972,,,,,,1.000(P),"3.44,3.44,3.44(T,T,T)",0.0000(T),0.103,0.505097,4.51,2.09,-0.264000,0.130000,0.908000,0.094000,0.006000,0.095000,3.7902
missense_variant,MROH2A,MISSENSE,NM_001287395.1:p.Tyr271His/c.811T>C,Tac/Cac,MODERATE,,0.626997,0.6855,rs1500481,0.25(T),,,-1.0050(T),,chr2,234702459,234702459,T,C,hom,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr271His/c.811T>C|1688|MROH2A|protein_coding|CODING|NM_001287395.1|7|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5204,0.6499,0.5626,,,,,0.226308(N),1.000(P),3.36(T),0.0000(T),0.029,-1.074502,5.67,0.583,-0.119000,-0.346000,0.038000,0.036000,0.000000,0.000000,0.2013
missense_variant,MROH2A,MISSENSE,NM_001287395.1:p.Glu332Gly/c.995A>G,gAa/gGa,MODERATE,COSM442526(3),0.652756,0.6796,rs2361503,0.09(T),,,-1.1259(T),,chr2,234704318,234704318,A,G,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu332Gly/c.995A>G|1688|MROH2A|protein_coding|CODING|NM_001287395.1|9|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5378,0.6599,0.5666,,,,,0.002512(N),0.302(P),3.02(T),0.0000(T),0.325,3.337455,5.55,5.55,0.402000,2.118000,4.463000,0.568000,0.916000,0.996000,12.0769
synonymous_variant,MROH2A,SILENT,NM_001287395.1:p.Arg434Arg/c.1302G>C,cgG/cgC,LOW,COSM4133558(1),0.16893,0.1637,rs11563247,,,,,,chr2,234707460,234707460,G,C,het,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg434Arg/c.1302G>C|1688|MROH2A|protein_coding|CODING|NM_001287395.1|12|1),HepG2:H3K27me3,,,,0.1268,0.1138,0.2316,,,,,,,,,,,,,,,,,,,
missense_variant,MROH2A,MISSENSE,NM_001287395.1:p.Trp981Arg/c.2941T>C,Tgg/Cgg,MODERATE,COSM4133560(1),0.828874,0.8929,rs726016,0.98(T),,,-0.9562(T),,chr2,234725502,234725502,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp981Arg/c.2941T>C|1688|MROH2A|protein_coding|CODING|NM_001287395.1|27|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HSMM:DNase1,HepG2:H3K27me3",,,,0.8507,0.7565,0.8499,,,,,0.516220(N),1.000(P),-0.13(T),0.0000(T),0.054,-2.863302,4.99,-0.402,-1.138000,-0.575000,-0.439000,0.000000,0.001000,0.035000,1.6252
synonymous_variant,MROH2A,SILENT,NM_001287395.1:p.Cys1079Cys/c.3237C>T,tgC/tgT,LOW,COSM4133562(1),0.489417,0.3095,rs6754859,,,,,,chr2,234727986,234727986,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1079Cys/c.3237C>T|1688|MROH2A|protein_coding|CODING|NM_001287395.1|30|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7679,0.5173,0.7376,,,,,,,,,,,,,,,,,,,
missense_variant,MROH2A,MISSENSE,NM_001287395.1:p.Phe1110Ser/c.3329T>C,tTc/tCc,MODERATE,,0.825879,0.8929,rs1500480,0.42(T),,-0.895(N),-1.0774(T),,chr2,234728078,234728078,T,C,hom,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe1110Ser/c.3329T>C|1688|MROH2A|protein_coding|CODING|NM_001287395.1|30|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8507,0.7536,0.836,,,,,0.946504(N),1.000(P),3.65(T),0.0000(T),0.076,0.014011,5.03,1.67,-1.173000,-0.220000,-0.164000,0.687000,0.736000,0.162000,7.2069
synonymous_variant,HJURP,SILENT,NM_018410.4:p.Ser82Ser/c.246C>T,tcC/tcT,LOW,COSM3722050(3),0.180312,0.1448,rs386598255,,,,,,chr2,234758500,234758500,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser82Ser/c.246C>T|748|HJURP|protein_coding|CODING|NM_018410.4|4|1),intron_variant(MODIFIER|||c.240+2711C>T|663|HJURP|protein_coding|CODING|NM_001282963.1|3|1),intron_variant(MODIFIER|||c.240+2711C>T|694|HJURP|protein_coding|CODING|NM_001282962.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1196,0.1412,0.174,0.19,0.25,0.16,,,,,,,,,,,,,,,,
synonymous_variant,TRPM8,SILENT,NM_024080.4:p.Ile1016Ile/c.3048C>T,atC/atT,LOW,COSM3758055(1),0.158746,0.0823,rs11563208,,,,,,chr2,234905078,234905078,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile1016Ile/c.3048C>T|1104|TRPM8|protein_coding|CODING|NM_024080.4|22|1),,,,,0.1339,0.3184,0.2525,0.22,0.11,0.28,,,,,,,,,,,,,,,,
synonymous_variant,TRPM8,SILENT,NM_024080.4:p.Val1058Val/c.3174C>G,gtC/gtG,LOW,,0.126198,0.1081,rs11563071,,,,,,chr2,234915540,234915540,C,G,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val1058Val/c.3174C>G|1104|TRPM8|protein_coding|CODING|NM_024080.4|23|1),HUVEC:H3K27me3,,,,0.0767,0.1484,0.0815,0.12,0.18,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SPP2,SILENT,NM_006944.2:p.Thr90Thr/c.270T>A,acT/acA,LOW,,0.690495,0.629,rs593668,,,,,,chr2,234967539,234967539,T,A,hom,synonymous_variant(LOW|SILENT|acT/acA|p.Thr90Thr/c.270T>A|211|SPP2|protein_coding|CODING|NM_006944.2|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8436,0.6772,0.7187,0.69,0.62,0.72,,,,,,,,,,,,,,,,
missense_variant,SH3BP4,MISSENSE,NM_014521.2:p.Met155Thr/c.464T>C,aTg/aCg,MODERATE,COSM149105(1),0.341653,0.4117,rs3731644,0.63(T),"0.0,0.0(B,B)",0(N),-0.9200(T),,chr2,235949877,235949877,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met155Thr/c.464T>C|963|SH3BP4|protein_coding|CODING|NM_014521.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K79me2",,,,0.3947,0.4092,0.0964,0.20,0.37,0.11,,0.414885(N),1.000(P),"3.06,3.06,3.06,1.86(T,T,T,T)",0.0000(T),0.023,-0.036980,5.35,2.53,-0.761000,-0.001000,1.295000,0.198000,0.000000,0.004000,3.1836
synonymous_variant,SH3BP4,SILENT,NM_014521.2:p.Pro169Pro/c.507A>G,ccA/ccG,LOW,COSM149106(1),0.330871,0.4127,rs3731645,,,,,,chr2,235949920,235949920,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro169Pro/c.507A>G|963|SH3BP4|protein_coding|CODING|NM_014521.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.3947,0.3372,0.0915,0.19,0.37,0.10,,,,,,,,,,,,,,,,
missense_variant,SH3BP4,MISSENSE,NM_014521.2:p.Ala197Thr/c.589G>A,Gca/Aca,MODERATE,COSM4001573(1),0.298522,0.4097,rs3731646,0.62(T),"0.0,0.0(B,B)",-0.695(N),-0.9570(T),,chr2,235950002,235950002,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala197Thr/c.589G>A|963|SH3BP4|protein_coding|CODING|NM_014521.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.3947,0.3256,0.0915,0.16,0.26,0.10,,0.085494(N),1.000(P),"3.03,3.03,3.03(T,T,T)",0.0000(T),0.028,-2.051408,5.58,-0.0177,-0.269000,-0.176000,0.383000,0.052000,0.000000,0.001000,5.7498
synonymous_variant,SH3BP4,SILENT,NM_014521.2:p.Asp258Asp/c.774T>C,gaT/gaC,LOW,COSM4133563(1),0.721845,0.9147,rs1469375,,,,,,chr2,235950187,235950187,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp258Asp/c.774T>C|963|SH3BP4|protein_coding|CODING|NM_014521.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6779,0.6354,0.4523,0.57,0.80,0.45,,,,,,,,,,,,,,,,
synonymous_variant,SH3BP4,SILENT,NM_014521.2:p.Arg291Arg/c.871A>C,Agg/Cgg,LOW,COSM149107(2),0.298323,0.4077,rs3731648,,,,,,chr2,235950284,235950284,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg291Arg/c.871A>C|963|SH3BP4|protein_coding|CODING|NM_014521.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:Nrsf",,,,0.3947,0.3256,0.0915,0.15,0.25,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SH3BP4,SILENT,NM_014521.2:p.Leu802Leu/c.2406A>G,ctA/ctG,LOW,COSM1129279(1),0.752196,0.9157,rs3795962,,,,,,chr2,235951819,235951819,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu802Leu/c.2406A>G|963|SH3BP4|protein_coding|CODING|NM_014521.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K79me2",,,,0.6779,0.6499,0.4612,0.61,0.88,0.46,,,,,,,,,,,,,,,,
missense_variant,AGAP1,MISSENSE,NM_001244888.1:p.Arg373Cys/c.1117C>T,Cgt/Tgt,MODERATE,,0.479633,0.7688,rs13006916,0(D),,,-0.9214(T),,chr2,236761396,236761396,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg373Cys/c.1117C>T|405|AGAP1|protein_coding|CODING|NM_001244888.1|10|1),intron_variant(MODIFIER|||c.1051-30593C>T|857|AGAP1|protein_coding|CODING|NM_001037131.2|9|1),intron_variant(MODIFIER|||c.1051-30593C>T|804|AGAP1|protein_coding|CODING|NM_014914.4|9|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5389,0.6499,0.5179,,,,,,0.000(P),-2.26(D),0.0000(T),0.21,1.447041,5.28,3.43,0.655000,0.587000,0.726000,0.855000,0.379000,0.462000,10.554
missense_variant,AGAP1,MISSENSE,NM_001037131.2:p.Val671Ile/c.2011G>A,Gtc/Atc,MODERATE,COSM4133564(1),0.690495,0.7282,rs2034648,,,1.67(L),-1.0037(T),,chr2,236957822,236957822,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val671Ile/c.2011G>A|857|AGAP1|protein_coding|CODING|NM_001037131.2|16|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val618Ile/c.1852G>A|804|AGAP1|protein_coding|CODING|NM_014914.4|15|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4796,0.7219,0.5119,0.63,0.86,0.52,,,1.000(P),,0.0000(T),.,1.079584,5.49,0.316,-1.044000,-0.472000,0.623000,0.942000,0.020000,0.004000,5.4083
synonymous_variant,AGAP1,SILENT,NM_001037131.2:p.Thr771Thr/c.2313G>A,acG/acA,LOW,,0.00119808,0,rs144860948,,,,-0.9698(T),,chr2,237029034,237029034,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr771Thr/c.2313G>A|857|AGAP1|protein_coding|CODING|NM_001037131.2|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr718Thr/c.2154G>A|804|AGAP1|protein_coding|CODING|NM_014914.4|16|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0,0.0029,0.004,0.00,0.00,0.00,,,1.000(D),,0.1068(T),.,1.464999,4.61,-4.0,0.484000,-0.492000,-2.385000,0.990000,0.984000,0.000000,2.5714
missense_variant,ASB18,MISSENSE,NM_212556.2:p.Ala104Thr/c.310G>A,Gcc/Acc,MODERATE,COSM3758059(2),0.442492,0.5655,rs6756597,0.47(T),"0.357,0.192(B,B)",0.95(L),-0.9508(T),,chr2,237149941,237149941,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala104Thr/c.310G>A|466|ASB18|protein_coding|CODING|NM_212556.2|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4141,0.4813,0.508,0.42,0.30,0.48,,0.309108(N),0.687(P),"1.16,1.17(T,T)",0.0000(T),0.189,3.125352,4.82,4.82,0.655000,2.377000,2.676000,0.956000,0.928000,0.979000,17.8766
missense_variant,COL6A3,MISSENSE,NM_004369.3:p.Thr3069Ile/c.9206C>T,aCc/aTc,MODERATE,COSM4001575(1),0.346246,0.4802,rs1131296,0.34(T),"0.003,0.006,0.003(B,B,B)",0.345(N),-0.9012(T),,chr2,238243292,238243292,G,A,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr3069Ile/c.9206C>T|3177|COL6A3|protein_coding|CODING|NM_004369.3|41|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr2462Ile/c.7385C>T|2570|COL6A3|protein_coding|CODING|NM_057166.4|38|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr2863Ile/c.8588C>T|2971|COL6A3|protein_coding|CODING|NM_057167.3|40|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,RCV000081023.2,,0.2935,0.3256,0.4036,0.36,0.29,0.40,,0.718837(N),0.000(P),"1.58,1.58,1.58,1.58,1.58,1.58(T,T,T,T,T,T)",0.0000(T),0.053,1.586755,5.43,-1.13,0.557000,-0.602000,0.603000,0.986000,0.164000,0.913000,9.5989
synonymous_variant,COL6A3,SILENT,NM_004369.3:p.Thr3041Thr/c.9123G>A,acG/acA,LOW,,0.0119808,0,rs61729843,,,,,,chr2,238243375,238243375,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr3041Thr/c.9123G>A|3177|COL6A3|protein_coding|CODING|NM_004369.3|41|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr2434Thr/c.7302G>A|2570|COL6A3|protein_coding|CODING|NM_057166.4|38|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr2835Thr/c.8505G>A|2971|COL6A3|protein_coding|CODING|NM_057167.3|40|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,RCV000081021.3,,0.0051,0.0231,0.0348,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,COL6A3,MISSENSE,NM_004369.3:p.Ala3012Pro/c.9034G>C,Gct/Cct,MODERATE,,0.792332,0.7312,rs2270669,1(T),"0.0,0.0,0.0(B,B,B)",-1.995(N),-0.9392(T),,chr2,238243464,238243464,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala3012Pro/c.9034G>C|3177|COL6A3|protein_coding|CODING|NM_004369.3|41|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala2405Pro/c.7213G>C|2570|COL6A3|protein_coding|CODING|NM_057166.4|38|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala2806Pro/c.8416G>C|2971|COL6A3|protein_coding|CODING|NM_057167.3|40|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,RCV000081019.2,,0.6881,0.67,0.7873,0.84,0.95,0.78,,0.000045(N),0.000(P),"2.08,2.08,2.08,2.08,2.08,2.08(T,T,T,T,T,T)",0.0000(T),0.091,2.183382,5.29,5.29,-0.215000,1.247000,5.502000,0.486000,0.956000,1.000000,16.1489
missense_variant,COL6A3,MISSENSE,NM_004369.3:p.Met2927Thr/c.8780T>C,aTg/aCg,MODERATE,,0.636581,0.5417,rs6728818,1(T),"0.0,0.0,0.0(B,B,B)",0.14(N),-0.9412(T),,chr2,238244963,238244963,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met2927Thr/c.8780T>C|3177|COL6A3|protein_coding|CODING|NM_004369.3|40|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met2320Thr/c.6959T>C|2570|COL6A3|protein_coding|CODING|NM_057166.4|37|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met2721Thr/c.8162T>C|2971|COL6A3|protein_coding|CODING|NM_057167.3|39|1)","HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000081013.2,,0.5072,0.549,0.6899,0.70,0.78,0.65,,0.270051(N),1.000(P),"-2.22,-2.21,-2.19,-2.18,-2.19,-2.18(D,D,D,D,D,D)",0.0000(T),0.008,0.499605,5.34,2.21,-0.213000,0.255000,1.747000,0.013000,0.000000,0.038000,5.0729
synonymous_variant,COL6A3,SILENT,NM_004369.3:p.Ala2643Ala/c.7929G>A,gcG/gcA,LOW,COSM3758061(3),0.342452,0.4802,rs4433949,,,,,,chr2,238249630,238249630,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2643Ala/c.7929G>A|3177|COL6A3|protein_coding|CODING|NM_004369.3|38|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2036Ala/c.6108G>A|2570|COL6A3|protein_coding|CODING|NM_057166.4|35|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2437Ala/c.7311G>A|2971|COL6A3|protein_coding|CODING|NM_057167.3|37|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000081003.2,,0.2935,0.3329,0.4284,0.37,0.26,0.42,,,,,,,,,,,,,,,,
synonymous_variant,COL6A3,SILENT,NM_004369.3:p.Gly2285Gly/c.6855G>C,ggG/ggC,LOW,,0.554313,0.6746,rs3790993,,,,,,chr2,238258814,238258814,C,G,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly2285Gly/c.6855G>C|3177|COL6A3|protein_coding|CODING|NM_004369.3|28|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1678Gly/c.5034G>C|2570|COL6A3|protein_coding|CODING|NM_057166.4|25|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly2079Gly/c.6237G>C|2971|COL6A3|protein_coding|CODING|NM_057167.3|27|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000080973.2,,0.4755,0.4683,0.5278,0.56,0.58,0.55,,,,,,,,,,,,,,,,
synonymous_variant,COL6A3,SILENT,NM_004369.3:p.Gly1511Gly/c.4533G>T,ggG/ggT,LOW,COSM3758064(1),0.265575,0.256,rs2645774,,,,,,chr2,238277573,238277573,C,A,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1511Gly/c.4533G>T|3177|COL6A3|protein_coding|CODING|NM_004369.3|10|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly904Gly/c.2712G>T|2570|COL6A3|protein_coding|CODING|NM_057166.4|7|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1305Gly/c.3915G>T|2971|COL6A3|protein_coding|CODING|NM_057167.3|9|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000080941.2,,0.2546,0.3084,0.2177,0.23,0.28,0.21,,,,,,,,,,,,,,,,
synonymous_variant,COL6A3,SILENT,NM_004369.3:p.Ile1437Ile/c.4311T>C,atT/atC,LOW,COSM3749639(3),0.388379,0.2956,rs2646260,,,,,,chr2,238277795,238277795,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1437Ile/c.4311T>C|3177|COL6A3|protein_coding|CODING|NM_004369.3|10|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile830Ile/c.2490T>C|2570|COL6A3|protein_coding|CODING|NM_057166.4|7|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1231Ile/c.3693T>C|2971|COL6A3|protein_coding|CODING|NM_057167.3|9|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000080938.2,,0.317,0.3473,0.2455,0.35,0.57,0.23,,,,,,,,,,,,,,,,
synonymous_variant,COL6A3,SILENT,NM_004369.3:p.Gly1043Gly/c.3129C>T,ggC/ggT,LOW,COSM1482931(2),0.215855,0.2698,rs12622093,,,,,,chr2,238283605,238283605,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1043Gly/c.3129C>T|3177|COL6A3|protein_coding|CODING|NM_004369.3|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly636Gly/c.1908C>T|1036|COL6A3|protein_coding|CODING|NM_057164.4|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly837Gly/c.2511C>T|1237|COL6A3|protein_coding|CODING|NM_057165.4|7|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly436Gly/c.1308C>T|2570|COL6A3|protein_coding|CODING|NM_057166.4|5|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly837Gly/c.2511C>T|2971|COL6A3|protein_coding|CODING|NM_057167.3|7|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000080926.2,,0.2474,0.2536,0.2465,0.20,0.13,0.23,,,,,,,,,,,,,,,,
synonymous_variant,MLPH,SILENT,NM_024101.6:p.Leu227Leu/c.681C>T,ctC/ctT,LOW,,0.147165,0.1935,rs2292881,,,,-1.0372(T),,chr2,238434249,238434249,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu227Leu/c.681C>T|572|MLPH|protein_coding|CODING|NM_001042467.2|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu187Leu/c.561C>T|480|MLPH|protein_coding|CODING|NM_001281473.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu227Leu/c.681C>T|600|MLPH|protein_coding|CODING|NM_024101.6|7|1),intron_variant(MODIFIER|||c.675+5577C>T|457|MLPH|protein_coding|CODING|NM_001281474.1|7|1),non_coding_exon_variant(MODIFIER|||n.924C>T||MLPH||CODING|NR_104019.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.2434,0.1988,0.0676,0.09,0.09,0.09,,,0.000(P),1.61(T),0.0001(T),.,0.909104,3.35,2.43,0.563000,0.955000,1.310000,0.727000,0.748000,0.637000,8.4894
missense_variant,MLPH,MISSENSE,NM_024101.6:p.His347Arg/c.1040A>G,cAt/cGt,MODERATE,COSM3758068(1),0.371406,0.2748,rs2292884,1(T),"0.0,0.0(B,B)",0(N),-0.9417(T),,chr2,238443226,238443226,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His347Arg/c.1040A>G|600|MLPH|protein_coding|CODING|NM_024101.6|9|1),intron_variant(MODIFIER|||c.676-5765A>G|457|MLPH|protein_coding|CODING|NM_001281474.1|7|1),intron_variant(MODIFIER|||c.1021-5765A>G|572|MLPH|protein_coding|CODING|NM_001042467.2|8|1),intron_variant(MODIFIER|||c.901-5765A>G|480|MLPH|protein_coding|CODING|NM_001281473.1|7|1),non_coding_exon_variant(MODIFIER|||n.1283A>G||MLPH||CODING|NR_104019.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",Prostate_cancer,,,0.3436,0.3098,0.2097,0.36,0.57,0.25,,0.795883(N),1.000(P),"3.1,3.01,2.53(T,T,T)",0.0000(T),0.186,-2.149150,3.99,0.0132,-0.119000,-0.177000,0.241000,0.557000,0.000000,0.000000,8.7039
missense_variant,MLPH,MISSENSE,NM_024101.6:p.Val374Ala/c.1121T>C,gTg/gCg,MODERATE,,0.43151,0.3899,rs3817362,,,0.895(L),-0.9608(T),,chr2,238449007,238449007,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val346Ala/c.1037T>C|572|MLPH|protein_coding|CODING|NM_001042467.2|9|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val306Ala/c.917T>C|480|MLPH|protein_coding|CODING|NM_001281473.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val231Ala/c.692T>C|457|MLPH|protein_coding|CODING|NM_001281474.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val374Ala/c.1121T>C|600|MLPH|protein_coding|CODING|NM_024101.6|10|1),non_coding_exon_variant(MODIFIER|||n.1364T>C||MLPH||CODING|NR_104019.1|10|1)","H1ESC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3793,0.3026,0.1193,0.33,0.71,0.14,,,1.000(P),,0.0000(T),.,-0.765435,4.66,0.0828,-1.117000,-0.239000,-1.086000,0.000000,0.000000,0.000000,3.5252
synonymous_variant,MLPH,SILENT,NM_024101.6:p.Asp379Asp/c.1137T>C,gaT/gaC,LOW,COSM149110(2),0.190695,0.3165,rs3817363,,,,-1.0310(T),,chr2,238449023,238449023,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp351Asp/c.1053T>C|572|MLPH|protein_coding|CODING|NM_001042467.2|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp311Asp/c.933T>C|480|MLPH|protein_coding|CODING|NM_001281473.1|8|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp236Asp/c.708T>C|457|MLPH|protein_coding|CODING|NM_001281474.1|8|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp379Asp/c.1137T>C|600|MLPH|protein_coding|CODING|NM_024101.6|10|1),non_coding_exon_variant(MODIFIER|||n.1380T>C||MLPH||CODING|NR_104019.1|10|1)","H1ESC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2372,0.2161,0.0805,0.11,0.15,0.09,,,0.428(P),,0.0000(T),.,0.218543,5.1,4.22,-0.248000,1.121000,0.402000,0.000000,0.008000,0.210000,10.659
synonymous_variant,MLPH,SILENT,NM_024101.6:p.Glu407Glu/c.1221A>G,gaA/gaG,LOW,COSM149111(3),0.505591,0.4226,rs2271809,,,,-1.0447(T),,chr2,238449107,238449107,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu379Glu/c.1137A>G|572|MLPH|protein_coding|CODING|NM_001042467.2|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu339Glu/c.1017A>G|480|MLPH|protein_coding|CODING|NM_001281473.1|8|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu264Glu/c.792A>G|457|MLPH|protein_coding|CODING|NM_001281474.1|8|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu407Glu/c.1221A>G|600|MLPH|protein_coding|CODING|NM_024101.6|10|1),non_coding_exon_variant(MODIFIER|||n.1464A>G||MLPH||CODING|NR_104019.1|10|1)","H1ESC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4448,0.3573,0.2485,0.44,0.77,0.26,,,1.000(P),,0.0000(T),.,-1.163772,2.76,0.838,-0.128000,-0.372000,0.760000,0.028000,0.015000,0.209000,4.1178
synonymous_variant,RAB17,SILENT,NM_022449.3:p.Cys210Cys/c.630C>T,tgC/tgT,LOW,,0.319688,0.2708,rs59945834,,,,,,chr2,238483671,238483671,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys210Cys/c.630C>T|212|RAB17|protein_coding|CODING|NM_022449.3|6|1),non_coding_exon_variant(MODIFIER|||n.1141C>T||RAB17||CODING|NR_033308.1|5|1)","H1ESC:H3K36me3,GM12878:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1953,0.1772,0.1342,0.30,0.58,0.16,,,,,,,,,,,,,,,,
missense_variant,RAB17,MISSENSE,NM_022449.3:p.Leu191Pro/c.572T>C,cTa/cCa,MODERATE,,0.379193,0.4147,rs2280289,0.59(T),0.0(B),0(N),-0.9540(T),,chr2,238483729,238483729,A,G,het,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu191Pro/c.572T>C|212|RAB17|protein_coding|CODING|NM_022449.3|6|1),non_coding_exon_variant(MODIFIER|||n.1083T>C||RAB17||CODING|NR_033308.1|5|1)","H1ESC:H3K36me3,GM12878:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2076,0.2839,0.1362,0.32,0.63,0.16,,0.541795(N),1.000(P),"-0.05,2.28,2.28(T,T,T)",0.0000(T),0.019,-0.538934,2.9,-3.45,-2.522000,-1.327000,-1.072000,0.001000,0.000000,0.000000,0.5546
missense_variant,RAB17,MISSENSE,NM_022449.3:p.Val19Ala/c.56T>C,gTg/gCg,MODERATE,COSM3736249(1),0.296725,0.1667,rs3751112,,,0.245(N),-0.9451(T),,chr2,238494742,238494742,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val19Ala/c.56T>C|212|RAB17|protein_coding|CODING|NM_022449.3|2|1),non_coding_exon_variant(MODIFIER|||n.719T>C||RAB17||CODING|NR_033308.1|2|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K27me3,HepG2:H3K27ac,HepG2:H3K36me3,HepG2:DNase1",,,,0.2924,0.2075,0.1561,0.28,0.51,0.17,,,1.000(P),,0.0000(T),.,-0.660007,4.69,0.644,-2.649000,-0.081000,0.886000,0.034000,0.002000,0.001000,5.1932
synonymous_variant,SCLY,SILENT,NM_016510.5:p.Ala311Ala/c.933T>C,gcT/gcC,LOW,COSM149112(1),0.214457,0.0704,rs1128552,,,,-1.0155(T),,chr2,238999883,238999883,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala311Ala/c.933T>C|453|SCLY|protein_coding|CODING|NM_016510.5|8|1),non_coding_exon_variant(MODIFIER|||n.1485T>C||UBE2F-SCLY||NON_CODING|NR_037904.1|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3865,0.2349,0.2177,0.21,0.20,0.22,,,0.000(P),,0.0000(T),.,1.309196,5.48,-3.93,-1.651000,-0.637000,-3.358000,0.838000,0.959000,0.000000,10.8593
synonymous_variant,SCLY,SILENT,NM_016510.5:p.Phe415Phe/c.1245C>T,ttC/ttT,LOW,COSM442574(2),0.245807,0.2341,rs12993309,,,,,,chr2,239006879,239006879,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe415Phe/c.1245C>T|453|SCLY|protein_coding|CODING|NM_016510.5|12|1),non_coding_exon_variant(MODIFIER|||n.1797C>T||UBE2F-SCLY||NON_CODING|NR_037904.1|19|1)","H1ESC:H3K36me3,H1ESC:H3K27ac,H1ESC:DNase1,HUVEC:DNase1,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,H1ESC:CTCF",,,,0.3456,0.2161,0.1968,0.22,0.27,0.19,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Arg135Arg/c.403C>A,Cgg/Agg,LOW,COSM3758083(1),0.135184,0.0298,rs34878344,,,,,,chr2,239010690,239010690,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg135Arg/c.403C>A|1005|ESPNL|protein_coding|CODING|NM_194312.2|2|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.3119,0.1744,0.1581,0.12,0.07,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Ala144Ala/c.432T>C,gcT/gcC,LOW,COSM3758084(3),0.609225,0.5903,rs36066915,,,,,,chr2,239010719,239010719,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala144Ala/c.432T>C|1005|ESPNL|protein_coding|CODING|NM_194312.2|2|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.6268,0.5692,0.6988,0.64,0.61,0.66,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Leu260Leu/c.780C>G,ctC/ctG,LOW,COSM4133579(1),0.746805,0.7143,rs935415,,,,,,chr2,239016539,239016539,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu260Leu/c.780C>G|1005|ESPNL|protein_coding|CODING|NM_194312.2|4|1),"HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K4me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.7331,0.6816,0.7346,0.73,0.80,0.70,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.His314His/c.942T>C,caT/caC,LOW,,0.196286,0.2302,rs11904159,,,,,,chr2,239025630,239025630,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His314His/c.942T>C|1005|ESPNL|protein_coding|CODING|NM_194312.2|5|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1442,0.1412,0.1322,0.20,0.25,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Cys319Cys/c.957C>T,tgC/tgT,LOW,COSM3758085(1),0.196685,0.2302,rs11897736,,,,,,chr2,239025645,239025645,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys319Cys/c.957C>T|1005|ESPNL|protein_coding|CODING|NM_194312.2|5|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1452,0.1412,0.1322,0.20,0.25,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Ser370Ser/c.1110C>T,tcC/tcT,LOW,,0.122404,0.1042,rs13382446,,,,,,chr2,239036270,239036270,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser370Ser/c.1110C>T|1005|ESPNL|protein_coding|CODING|NM_194312.2|7|1),"HepG2:H3K4me2,H1ESC:DNase1,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K27me3,K562:DNase1",,,,0.1115,0.121,0.1362,0.15,0.13,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Leu519Leu/c.1557T>C,ctT/ctC,LOW,COSM3773956(2),0.248203,0.1835,rs57813708,,,,,,chr2,239038912,239038912,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu519Leu/c.1557T>C|1005|ESPNL|protein_coding|CODING|NM_194312.2|9|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2096,0.2709,0.2386,0.25,0.31,0.23,,,,,,,,,,,,,,,,
missense_variant,ESPNL,MISSENSE,NM_194312.2:p.Ile568Val/c.1702A>G,Atc/Gtc,MODERATE,COSM3758086(2),0.394569,0.4444,rs13033248,1(T),"0.0,0.0(B,B)",0(N),-0.9754(T),,chr2,239039057,239039057,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile568Val/c.1702A>G|1005|ESPNL|protein_coding|CODING|NM_194312.2|9|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4305,0.3876,0.3847,0.38,0.36,0.39,,,1.000(P),"0.12,1.23,0.81(T,T,T)",0.0000(T),0.141,-2.766231,3.37,-2.79,-0.548000,-0.164000,-0.058000,0.014000,0.000000,0.000000,0.1428
missense_variant,ESPNL,MISSENSE,NM_194312.2:p.Ala574Ser/c.1720G>T,Gca/Tca,MODERATE,,0.390176,0.4415,rs13006204,0.58(T),"0.001,0.002(B,B)",0(N),-1.0388(T),,chr2,239039075,239039075,G,T,het,missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala574Ser/c.1720G>T|1005|ESPNL|protein_coding|CODING|NM_194312.2|9|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4131,0.3876,0.3827,0.38,0.36,0.39,,0.000888(N),1.000(P),"0.05,1.15,0.74(T,T,T)",0.0000(T),0.193,-1.458749,2.52,-5.03,-1.763000,-1.405000,-3.396000,0.018000,0.000000,0.000000,1.4149
missense_variant,ESPNL,MISSENSE,NM_194312.2:p.Val761Ala/c.2282T>C,gTg/gCg,MODERATE,COSM3758087(4),0.863618,0.9315,rs4663845,1(T),"0.0,0.0(B,B)",-1.905(N),-0.9639(T),,chr2,239039637,239039637,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val761Ala/c.2282T>C|1005|ESPNL|protein_coding|CODING|NM_194312.2|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8292,0.7968,0.7256,0.85,0.96,0.80,,0.006749(N),1.000(P),"0.2,1.32,0.89(T,T,T)",0.0000(T),0.426,-2.633982,4.5,2.68,-0.642000,0.048000,-0.058000,0.063000,0.057000,0.000000,7.1385
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Pro847Pro/c.2541G>C,ccG/ccC,LOW,COSM4133581(1),0.862819,0.9276,rs10182906,,,,,,chr2,239039896,239039896,G,C,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro847Pro/c.2541G>C|1005|ESPNL|protein_coding|CODING|NM_194312.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8272,0.7968,0.7276,0.82,0.95,0.75,,,,,,,,,,,,,,,,
synonymous_variant,ESPNL,SILENT,NM_194312.2:p.Gly944Gly/c.2832T>C,ggT/ggC,LOW,COSM3758088(4),0.865016,0.9286,rs12692215,,,,,,chr2,239040187,239040187,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly944Gly/c.2832T>C|1005|ESPNL|protein_coding|CODING|NM_194312.2|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8282,0.7997,0.7326,0.82,0.95,0.75,,,,,,,,,,,,,,,,
missense_variant,KLHL30,MISSENSE,NM_198582.3:p.Gly49Ser/c.145G>A,Ggc/Agc,MODERATE,COSM4133584(1),0.386382,0.3938,rs2241985,0.11(T),0.043(B),-0.815(N),-0.9437(T),,chr2,239049540,239049540,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly49Ser/c.145G>A|578|KLHL30|protein_coding|CODING|NM_198582.3|2|1),HepG2:H3K27me3,,,,0.3773,0.4006,0.3847,0.39,0.39,0.39,,0.013586(N),1.000(P),"-0.2,-0.2(T,T)",0.0000(T),0.039,0.423477,5.66,1.26,-0.218000,0.329000,0.962000,0.927000,0.963000,0.319000,7.8189
missense_variant,KLHL30,MISSENSE,NM_198582.3:p.Ala213Val/c.638C>T,gCc/gTc,MODERATE,COSM3749644(18),0.728435,0.872,rs12692216,0.3(T),0.001(B),0.67(N),-0.9353(T),,chr2,239050033,239050033,C,T,hom,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala213Val/c.638C>T|578|KLHL30|protein_coding|CODING|NM_198582.3|2|1),"HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7065,0.7176,0.6103,0.67,0.76,0.63,,0.150437(N),1.000(P),"-0.38,-0.38(T,T)",0.0000(T),0.026,-0.902470,5.6,2.65,0.655000,0.672000,-0.175000,0.005000,0.532000,0.000000,4.2475
synonymous_variant,KLHL30,SILENT,NM_198582.3:p.Phe295Phe/c.885T>C,ttT/ttC,LOW,COSM442581(3),0.933706,0.9335,rs386622064,,,,,,chr2,239051550,239051550,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe295Phe/c.885T>C|578|KLHL30|protein_coding|CODING|NM_198582.3|3|1),"HSMM:H3K36me3,HMEC:H3K4me1,HepG2:H3K27me3",,,,0.9642,0.8948,0.8648,0.92,0.97,0.89,,,,,,,,,,,,,,,,
synonymous_variant,KLHL30,SILENT,NM_198582.3:p.Asn505Asn/c.1515T>C,aaT/aaC,LOW,COSM3758089(1),0.858427,0.9256,rs7605194,,,,,,chr2,239059484,239059484,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn505Asn/c.1515T>C|578|KLHL30|protein_coding|CODING|NM_198582.3|8|1),HepG2:H3K27me3,,,,0.8476,0.7824,0.7038,0.80,0.94,0.73,,,,,,,,,,,,,,,,
missense_variant,PER2,MISSENSE,NM_022817.2:p.Gly1244Glu/c.3731G>A,gGa/gAa,MODERATE,COSM3758092(1),0.17472,0.2639,rs386622034,1(T),0.008(B),1.04(L),-0.9286(T),,chr2,239155053,239155053,C,T,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly1244Glu/c.3731G>A|1255|PER2|protein_coding|CODING|NM_022817.2|23|1),"GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2025,0.317,0.1789,0.14,0.04,0.19,,0.886421(N),1.000(P),2.9(T),0.0000(T),0.039,1.189691,5.03,2.88,0.655000,1.224000,1.428000,0.009000,0.001000,0.003000,5.5081
synonymous_variant,TRAF3IP1,SILENT,NM_015650.3:p.Thr23Thr/c.69C>A,acC/acA,LOW,COSM3758094(2),0.665136,0.4831,rs13398676,,,,,,chr2,239229372,239229372,C,A,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr23Thr/c.69C>A|625|TRAF3IP1|protein_coding|CODING|NM_001139490.1|1|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr23Thr/c.69C>A|691|TRAF3IP1|protein_coding|CODING|NM_015650.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6411,0.7305,0.7425,0.76,0.75,0.77,,,,,,,,,,,,,,,,
synonymous_variant,HDAC4,SILENT,NM_006037.3:p.Pro855Pro/c.2565C>T,ccC/ccT,LOW,COSM4133597(1),0.595248,0.6885,rs1063639,,,,,,chr2,240003870,240003870,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro855Pro/c.2565C>T|1084|HDAC4|protein_coding|CODING|NM_006037.3|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6258,0.6499,0.4414,0.51,0.57,0.47,,,,,,,,,,,,,,,,
missense_variant,HDAC4,MISSENSE,NM_006037.3:p.Val320Ile/c.958G>A,Gtc/Atc,MODERATE,,0.00219649,0,rs73000144,,"0.003,0.007,0.007,0.001,0.002,0.002(B,B,B,B,B,B)",0.55(N),-1.0849(T),,chr2,240061400,240061400,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val320Ile/c.958G>A|1084|HDAC4|protein_coding|CODING|NM_006037.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0029,0.008,0.00,0.00,0.00,,0.029556(N),1.000(D),"0.31,1.48(T,T)",0.0745(T),0.129,1.596753,4.58,2.76,0.585000,0.484000,0.834000,0.266000,0.143000,0.355000,10.0337
synonymous_variant,NDUFA10,SILENT,NM_004544.3:p.Lys35Lys/c.105A>G,aaA/aaG,LOW,,0.702476,0.7867,rs2083411,,,,,,chr2,240961728,240961728,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys35Lys/c.105A>G|355|NDUFA10|protein_coding|CODING|NM_004544.3|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117699.2,,0.5583,0.6311,0.6779,0.69,0.79,0.65,,,,,,,,,,,,,,,,
missense_variant,PRR21,MISSENSE,NM_001080835.1:p.Ser380Ala/c.1138T>G,Tct/Gct,MODERATE,COSM3758102(1),0.415136,0.5754,rs6728493,0(D),0.139(B),0(N),-0.9530(T),,chr2,240981262,240981262,A,C,het,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser380Ala/c.1138T>G|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.32,0.379,0.332,0.34,0.38,0.32,,,1.000(P),"1.44,1.44(T,T)",0.0000(T),0.074,0.519647,0.483,0.483,0.413000,0.424000,0.106000,0.040000,0.013000,0.000000,2.636
missense_variant,PRR21,MISSENSE,NM_001080835.1:p.Lys342Met/c.1025A>T,aAg/aTg,MODERATE,,0.72484,0.7817,rs6732185,0.06(T),0.003(B),0(N),-0.9305(T),,chr2,240981375,240981375,T,A,hom,missense_variant(MODERATE|MISSENSE|aAg/aTg|p.Lys342Met/c.1025A>T|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.589,0.5879,0.6312,0.72,0.88,0.64,,,1.000(P),"1.61,1.61(T,T)",0.0000(T),0.087,-0.758439,0.612,-1.22,-2.852000,-3.326000,-4.269000,0.002000,0.000000,0.000000,0.9984
missense_variant,PRR21,MISSENSE,NM_001080835.1:p.Cys305Arg/c.913T>C,Tgc/Cgc,MODERATE,COSM1565644(4),0.414936,0.5744,rs60617721,0.77(T),0.003(B),0(N),-0.9396(T),,chr2,240981487,240981487,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys305Arg/c.913T>C|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3211,0.3775,0.332,,,,,,1.000(P),"2.59,2.59(T,T)",0.0122(T),0.223,-2.707321,0.623,-1.25,-1.198000,-1.350000,-2.193000,0.001000,0.000000,0.000000,2.6586
synonymous_variant,PRR21,SILENT,NM_001080835.1:p.His295His/c.885T>C,caT/caC,LOW,,0.416134,0.5754,rs59139800,,,,,,chr2,240981515,240981515,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His295His/c.885T>C|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3221,0.379,0.334,,,,,,,,,,,,,,,,,,,
missense_variant,PRR21,MISSENSE,NM_001080835.1:p.Met286Thr/c.857T>C,aTg/aCg,MODERATE,COSM4133611(8),0.371805,0.5347,rs71428408,0.99(T),0.083(B),0(N),-0.9610(T),,chr2,240981543,240981543,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met286Thr/c.857T>C|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2658,0.3386,0.3062,,,,,,1.000(N),"2.61,2.61(T,T)",0.0126(T),0.105,-3.002001,0.848,-1.7,0.338000,-1.072000,-1.168000,0.001000,0.000000,0.000000,2.8939
synonymous_variant,PRR21,SILENT,NM_001080835.1:p.Ser284Ser/c.852C>G,tcC/tcG,LOW,,,,rs6711783,,,,,,chr2,240981548,240981548,G,C,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser284Ser/c.852C>G|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRR21,MISSENSE,NM_001080835.1:p.Arg275Pro/c.824G>C,cGt/cCt,MODERATE,,,,rs28681323,0.31(T),0.106(B),0(N),-0.9557(T),,chr2,240981576,240981576,C,G,hom,missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg275Pro/c.824G>C|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"2.57,2.57(T,T)",0.0154(T),0.204,0.996533,1.31,-2.63,-1.464000,-1.352000,-2.167000,0.001000,0.000000,0.000000,4.0783
missense_variant,PRR21,MISSENSE,NM_001080835.1:p.Gly58Ser/c.172G>A,Ggc/Agc,MODERATE,COSM4133645(1),0.521965,0.506,rs10439373,0.49(T),0.045(B),0(N),-0.9478(T),,chr2,240982228,240982228,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly58Ser/c.172G>A|389|PRR21|protein_coding|CODING|NM_001080835.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4847,0.4481,0.502,0.49,0.60,0.43,,,1.000(P),"1.19,1.19(T,T)",0.0000(T),0.053,-1.087546,1.5,-3.0,-1.281000,-2.086000,-1.681000,0.000000,0.000000,0.000000,4.1525
missense_variant,OR6B3,MISSENSE,NM_173351.1:p.Cys234Tyr/c.701G>A,tGc/tAc,MODERATE,COSM3758104(1),0.298522,0.5595,rs12465491,0.01(D),0.158(B),0.28(N),-1.0105(T),,chr2,240984789,240984789,C,T,het,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys234Tyr/c.701G>A|331|OR6B3|protein_coding|CODING|NM_173351.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1871,0.2089,0.3042,0.24,0.19,0.27,,0.039282(N),1.000(P),8.76(T),0.0000(T),0.072,-0.299476,3.88,1.06,-0.249000,0.206000,0.629000,0.064000,0.001000,0.000000,4.943
missense_variant,OR6B3,MISSENSE,NM_173351.1:p.Thr48Ile/c.143C>T,aCc/aTc,MODERATE,COSM3734011(2),,,rs13030992,0.14(T),0.583(P),0.38(N),-1.2518(T),,chr2,240985347,240985347,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr48Ile/c.143C>T|331|OR6B3|protein_coding|CODING|NM_173351.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.335165(U),0.895(P),6.45(T),0.0000(T),0.37,0.415093,3.97,3.97,0.511000,2.475000,4.279000,0.083000,0.895000,0.290000,7.7394
synonymous_variant,MYEOV2,SILENT,NM_138336.1:p.Glu153Glu/c.459G>A,gaG/gaA,LOW,COSM4133650(1),0.719848,0.7252,rs4292120,,,,,,chr2,241066280,241066280,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu153Glu/c.459G>A|252|MYEOV2|protein_coding|CODING|NM_138336.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.6744,0.5696,0.67,0.90,0.55,,,,,,,,,,,,,,,,
synonymous_variant,GPC1,SILENT,NM_002081.2:p.Pro353Pro/c.1059C>T,ccC/ccT,LOW,COSM1129265(1),0.516773,0.3026,rs2229458,0.06(T),,,-1.0231(T),,chr2,241404317,241404317,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro353Pro/c.1059C>T|558|GPC1|protein_coding|CODING|NM_002081.2|6|1),"H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5317,0.5274,0.5696,0.60,0.64,0.58,,0.000039(U),1.000(P),0.84(T),0.0000(T),.,-1.315240,3.88,-7.76,-1.239000,-2.805000,-7.128000,0.001000,0.000000,0.000000,5.4102
synonymous_variant,GPC1,SILENT,NM_002081.2:p.Gly485Gly/c.1455C>T,ggC/ggT,LOW,COSM3758105(1),0.145168,0.0149,rs2228330,,,,,,chr2,241405485,241405485,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly485Gly/c.1455C>T|558|GPC1|protein_coding|CODING|NM_002081.2|9|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1",,,,0.1789,0.134,0.2107,0.21,0.17,0.23,,,0.000(P),,,.,0.611022,3.69,2.77,0.443000,0.610000,0.518000,0.770000,0.982000,0.134000,10.396
missense_variant,GPC1,MISSENSE,NM_002081.2:p.Ser500Gly/c.1498A>G,Agc/Ggc,MODERATE,COSM3721956(2),0.664337,0.3383,rs2228331,,,-1.145(N),-0.9721(T),,chr2,241405528,241405528,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser500Gly/c.1498A>G|558|GPC1|protein_coding|CODING|NM_002081.2|9|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1",,,,0.6186,0.6484,0.7048,0.77,0.89,0.71,,,1.000(P),,0.0000(T),.,-2.325179,3.82,1.97,-1.177000,-0.045000,1.350000,0.003000,0.019000,0.846000,7.9693
missense_variant,ANKMY1,MISSENSE,NM_001282771.1:p.Ile513Met/c.1539A>G,atA/atG,MODERATE,COSM1406806(2),0.119409,0.0089,rs35996697,0.22(T),"0.004,0.0,0.009,0.0,0.003,0.004(B,B,B,B,B,B)",0(N),-1.0848(T),,chr2,241463595,241463595,T,C,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile513Met/c.1539A>G|1030|ANKMY1|protein_coding|CODING|NM_001282771.1|8|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile283Met/c.849A>G|720|ANKMY1|protein_coding|CODING|NM_001282780.1|6|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile424Met/c.1272A>G|941|ANKMY1|protein_coding|CODING|NM_016552.3|7|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile283Met/c.849A>G|717|ANKMY1|protein_coding|CODING|NM_017844.3|6|1),intron_variant(MODIFIER|||c.723+126A>G|702|ANKMY1|protein_coding|CODING|NM_001282781.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0685,0.134,0.1779,0.18,0.20,0.17,,0.000017(N),1.000(P),"2.92,0.52,2.25,0.52,4.39,2.48,0.5,2.23,2.23,2.5(T,T,T,T,T,T,T,T,T,T)",0.0001(T),0.105,0.129512,2.39,-2.55,-1.140000,-1.112000,-3.660000,0.000000,0.000000,0.000000,6.204
synonymous_variant,ANKMY1,SILENT,NM_001282771.1:p.His392His/c.1176C>T,caC/caT,LOW,,0.0505192,0.0119,rs35186665,0.02(D),,,-0.9599(T),,chr2,241465261,241465261,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His392His/c.1176C>T|1030|ANKMY1|protein_coding|CODING|NM_001282771.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His162His/c.486C>T|720|ANKMY1|protein_coding|CODING|NM_001282780.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His162His/c.486C>T|702|ANKMY1|protein_coding|CODING|NM_001282781.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His303His/c.909C>T|941|ANKMY1|protein_coding|CODING|NM_016552.3|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His162His/c.486C>T|717|ANKMY1|protein_coding|CODING|NM_017844.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1145,0.0461,0.0915,0.08,0.02,0.10,,,1.000(D),,0.0094(T),.,2.357071,3.63,-2.19,-0.670000,-0.270000,0.172000,0.008000,0.078000,0.990000,8.5052
splice_acceptor_variant,ANKMY1,protein_coding,NM_001282771.1:c.1G>T,,HIGH,,0.077476,0.0099,rs62621191,,,,,ANKMY1:0.80(5);,chr2,241496770,241496770,C,A,het,"splice_acceptor_variant(HIGH|||c.1G>T|1030|ANKMY1|protein_coding|CODING|NM_001282771.1|2|1),splice_acceptor_variant(HIGH|||c.1G>T|720|ANKMY1|protein_coding|CODING|NM_001282780.1|2|1),splice_acceptor_variant(HIGH|||c.1G>T|702|ANKMY1|protein_coding|CODING|NM_001282781.1|2|1),splice_acceptor_variant(HIGH|||c.1G>T|717|ANKMY1|protein_coding|CODING|NM_017844.3|2|1),intron_variant(MODIFIER|||c.-122+528G>T|941|ANKMY1|protein_coding|CODING|NM_016552.3|1|1),intron_variant(MODIFIER|||c.-17-1G>T|1030|ANKMY1|protein_coding|CODING|NM_001282771.1|1|1),intron_variant(MODIFIER|||c.-17-1G>T|720|ANKMY1|protein_coding|CODING|NM_001282780.1|1|1),intron_variant(MODIFIER|||c.-17-1G>T|702|ANKMY1|protein_coding|CODING|NM_001282781.1|1|1),intron_variant(MODIFIER|||c.-17-1G>T|717|ANKMY1|protein_coding|CODING|NM_017844.3|1|1)","H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,CD4:H2BK5me1,HepG2:H3K36me3",,,,0.0695,0.1095,0.1511,0.13,0.08,0.15,,,0.005(P),,,.,0.717388,2.5,2.5,0.467000,1.704000,1.406000,0.006000,0.128000,0.928000,8.5999
synonymous_variant,RNPEPL1,SILENT,NM_018226.4:p.Ser551Ser/c.1653G>C,tcG/tcC,LOW,,0.0359425,0.0208,rs34344571,,,,,,chr2,241516094,241516094,G,C,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser551Ser/c.1653G>C|725|RNPEPL1|protein_coding|CODING|NM_018226.4|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0859,0.0331,0.0497,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,CAPN10,SILENT,NM_023083.3:p.Pro200Pro/c.600A>G,ccA/ccG,LOW,,0.117612,0.0972,rs3792269,,,,,,chr2,241531479,241531479,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro200Pro/c.600A>G|672|CAPN10|protein_coding|CODING|NM_023083.3|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro200Pro/c.600A>G|517|CAPN10|protein_coding|CODING|NM_023085.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2106,0.1254,0.159,0.12,0.05,0.16,,,,,,,,,,,,,,,,
missense_variant,CAPN10,MISSENSE,NM_023083.3:p.Thr504Ala/c.1510A>G,Acc/Gcc,MODERATE,,0.116813,0.0933,rs7607759,0.84(T),"0.0,0.0(B,B)",-1.355(N),-1.0832(T),,chr2,241536126,241536126,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr504Ala/c.1510A>G|672|CAPN10|protein_coding|CODING|NM_023083.3|9|1),intron_variant(MODIFIER|||c.1279-1179A>G|517|CAPN10|protein_coding|CODING|NM_023085.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2106,0.1254,0.159,0.12,0.05,0.16,,0.521794(N),1.000(P),"-2.09,-2.13(D,D)",0.0005(T),0.012,-0.199628,4.77,-3.01,-2.930000,-1.127000,-0.328000,0.000000,0.000000,0.000000,5.0822
synonymous_variant,CAPN10,SILENT,NM_023083.3:p.Ala620Ala/c.1860G>A,gcG/gcA,LOW,COSM4133667(1),0.511781,0.6488,rs3749166,,,,,,chr2,241537421,241537421,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala620Ala/c.1860G>A|672|CAPN10|protein_coding|CODING|NM_023083.3|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala465Ala/c.1395G>A|517|CAPN10|protein_coding|CODING|NM_023085.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5358,0.5634,0.6074,0.52,0.32,0.62,,,,,,,,,,,,,,,,
missense_variant,CAPN10,MISSENSE,NM_023083.3:p.Ile666Val/c.1996A>G,Atc/Gtc,MODERATE,,0.989816,1,rs2975766,0.75(T),"0.003,0.0,0.0(B,B,B)",0.345(N),-0.9415(T),,chr2,241538074,241538074,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile666Val/c.1996A>G|672|CAPN10|protein_coding|CODING|NM_023083.3|12|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile511Val/c.1531A>G|517|CAPN10|protein_coding|CODING|NM_023085.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9908,0.987,0.9692,0.98,0.99,0.97,,0.081200(N),0.044(P),"-2.08,1.57,-1.83(D,T,D)",0.0000(T),0.155,-2.042026,3.95,-6.01,-1.460000,-1.545000,-0.933000,0.267000,0.037000,0.000000,1.3047
missense_variant,GPR35,MISSENSE,NM_001195381.1:p.Arg13His/c.38G>A,cGt/cAt,MODERATE,,0.476038,0.619,rs6437353,0.32(T),,,-0.9288(T),,chr2,241558397,241558397,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg13His/c.38G>A|340|GPR35|protein_coding|CODING|NM_001195381.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg13His/c.38G>A|340|GPR35|protein_coding|CODING|NM_001195382.1|5|1)",HepG2:H3K36me3,,,,0.5511,0.5086,0.5149,,,,,,1.000(P),0.2(T),0.0000(T),0.062,0.748615,0.744,-1.49,-0.474000,-1.090000,-1.193000,0.000000,0.000000,0.000000,.
synonymous_variant,GPR35,SILENT,NM_001195381.1:p.Thr103Thr/c.309C>T,acC/acT,LOW,,0.00898562,0,rs35155396,,,,,,chr2,241569585,241569585,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr103Thr/c.309C>T|340|GPR35|protein_coding|CODING|NM_001195381.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr103Thr/c.309C>T|340|GPR35|protein_coding|CODING|NM_001195382.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr72Thr/c.216C>T|309|GPR35|protein_coding|CODING|NM_005301.3|2|1)","CD4:H4K91ac,CD4:H2BK5me1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0041,0.013,0.0308,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,GPR35,SILENT,NM_001195381.1:p.Gly191Gly/c.573C>T,ggC/ggT,LOW,,0.048722,0.0149,rs12468377,,,,,,chr2,241569849,241569849,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly191Gly/c.573C>T|340|GPR35|protein_coding|CODING|NM_001195381.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly191Gly/c.573C>T|340|GPR35|protein_coding|CODING|NM_001195382.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly160Gly/c.480C>T|309|GPR35|protein_coding|CODING|NM_005301.3|2|1)","CD4:H4K91ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1258,0.0288,0.0845,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,GPR35,SILENT,NM_001195381.1:p.Leu272Leu/c.816C>T,ctC/ctT,LOW,,0.048722,0.0149,rs12468453,,,,,,chr2,241570092,241570092,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu272Leu/c.816C>T|340|GPR35|protein_coding|CODING|NM_001195381.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu272Leu/c.816C>T|340|GPR35|protein_coding|CODING|NM_001195382.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu241Leu/c.723C>T|309|GPR35|protein_coding|CODING|NM_005301.3|2|1)","CD4:H4K91ac,CD4:H2BK5me1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1258,0.0288,0.0845,0.06,0.02,0.07,,,,,,,,,,,,,,,,
missense_variant,GPR35,MISSENSE,NM_001195381.1:p.Thr284Met/c.851C>T,aCg/aTg,MODERATE,COSM3773958(1),0.0489217,0.0149,rs12468485,0.23(T),"0.552,0.413(P,B)",0.695(N),-1.0036(T),,chr2,241570127,241570127,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr284Met/c.851C>T|340|GPR35|protein_coding|CODING|NM_001195381.1|6|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr284Met/c.851C>T|340|GPR35|protein_coding|CODING|NM_001195382.1|6|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr253Met/c.758C>T|309|GPR35|protein_coding|CODING|NM_005301.3|2|1)","CD4:H4K91ac,CD4:H2BK5me1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1258,0.0303,0.0845,0.06,0.02,0.07,,0.632501(U),1.000(N),"-0.67,-0.67,-0.67,-0.67,-0.67(T,T,T,T,T)",0.0086(T),0.062,1.259340,2.09,-4.17,-0.727000,-1.434000,-1.969000,0.001000,0.000000,0.000000,8.591
missense_variant,GPR35,MISSENSE,NM_001195381.1:p.Ser325Arg/c.973A>C,Agt/Cgt,MODERATE,COSM4001595(1),0.515974,0.7113,rs3749172,0.57(T),"0.0,0.0(B,B)",0.345(N),-0.9686(T),,chr2,241570249,241570249,A,C,hom,"missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser325Arg/c.973A>C|340|GPR35|protein_coding|CODING|NM_001195381.1|6|1),missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser325Arg/c.973A>C|340|GPR35|protein_coding|CODING|NM_001195382.1|6|1),missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser294Arg/c.880A>C|309|GPR35|protein_coding|CODING|NM_005301.3|2|1)","CD4:H4K91ac,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7996,0.3862,0.5596,0.46,0.25,0.56,,0.008632(N),1.000(P),"0.19,0.19,0.24,0.19,0.19(T,T,T,T,T)",0.0000(T),0.08,-0.444583,2.02,-3.65,0.374000,-1.062000,-1.935000,0.086000,0.000000,0.000000,8.8565
missense_variant,AQP12B,MISSENSE,NM_001102467.1:p.Thr129Met/c.386C>T,aCg/aTg,MODERATE,COSM442620(9),,,rs74882485,0.3(T),0.891(P),,-0.9959(T),,chr2,241621869,241621869,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr129Met/c.386C>T|307|AQP12B|protein_coding|CODING|NM_001102467.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.001671(N),1.000(P),2.46(T),0.0656(T),0.414,0.620131,2.84,1.94,0.473000,0.748000,5.268000,0.132000,0.002000,0.997000,8.3053
missense_variant,AQP12B,MISSENSE,NM_001102467.1:p.Val85Phe/c.253G>T,Gtc/Ttc,MODERATE,,0.043131,0.0427,rs182755222,,0.011(B),0(N),-0.9378(T),,chr2,241622002,241622002,C,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val85Phe/c.253G>T|307|AQP12B|protein_coding|CODING|NM_001102467.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1217,0.0259,0.0338,0.03,0.01,0.04,,0.012848(N),0.999(N),2.79(T),0.0032(T),0.051,-1.204967,2.57,2.57,0.424000,1.746000,1.256000,0.049000,0.708000,0.003000,6.781
synonymous_variant,AQP12B,SILENT,NM_001102467.1:p.Ala82Ala/c.246G>C,gcG/gcC,LOW,,0.0429313,0.0427,rs192736899,,,,,,chr2,241622009,241622009,C,G,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala82Ala/c.246G>C|307|AQP12B|protein_coding|CODING|NM_001102467.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1217,0.0259,0.0328,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,AQP12B,MISSENSE,NM_001102467.1:p.Phe51Cys/c.152T>G,tTc/tGc,MODERATE,,0.0497204,0.0496,rs116505219,,0.0(B),,-0.9144(T),,chr2,241622103,241622103,A,C,het,missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe51Cys/c.152T>G|307|AQP12B|protein_coding|CODING|NM_001102467.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1227,0.036,0.0358,0.04,0.02,0.04,,,1.000(N),3.53(T),0.0019(T),0.023,-1.274498,3.19,1.06,-0.388000,0.621000,0.996000,0.046000,0.996000,1.000000,6.834
synonymous_variant,AQP12B,SILENT,NM_001102467.1:p.Gly43Gly/c.129C>T,ggC/ggT,LOW,,0.0429313,0.0427,rs192451353,,,,,,chr2,241622126,241622126,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly43Gly/c.129C>T|307|AQP12B|protein_coding|CODING|NM_001102467.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1217,0.0259,0.0328,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,AQP12B,MISSENSE,NM_001102467.1:p.Thr16Ala/c.46A>G,Acc/Gcc,MODERATE,COSM4133675(1),0.694688,0.5069,rs4081908,,0.0(B),,-1.0708(T),,chr2,241622209,241622209,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr16Ala/c.46A>G|307|AQP12B|protein_coding|CODING|NM_001102467.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6258,0.8357,0.7694,0.74,0.72,0.75,,0.283096(N),1.000(P),2.83(T),0.0000(T),0.027,-1.576585,3.19,2.25,-0.365000,0.122000,0.034000,0.233000,0.105000,0.000000,5.8826
synonymous_variant,AQP12A,SILENT,NM_198998.2:p.Ala20Ala/c.60G>A,gcG/gcA,LOW,,,,rs146209567,,,,,,chr2,241631390,241631390,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala20Ala/c.60G>A|295|AQP12A|protein_coding|CODING|NM_198998.2|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,AQP12A,MISSENSE,NM_198998.2:p.Leu28Arg/c.83T>G,cTg/cGg,MODERATE,COSM1406847(4),0.19988,0.0357,rs71428454,0(D),,1.935(M),-0.9660(T),,chr2,241631413,241631413,T,G,het,missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu28Arg/c.83T>G|295|AQP12A|protein_coding|CODING|NM_198998.2|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.3242,0.3519,,,,,,0.001(P),,0.0000(T),.,-0.193201,2.43,2.43,0.156000,1.134000,1.538000,0.334000,0.878000,0.134000,8.4076
synonymous_variant,KIF1A,SILENT,NM_001244008.1:p.Leu331Leu/c.991T>C,Ttg/Ctg,LOW,,0.513578,0.622,rs1063353,,,,-0.9565(T),,chr2,241713646,241713646,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu331Leu/c.991T>C|1791|KIF1A|protein_coding|CODING|NM_001244008.1|12|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu331Leu/c.991T>C|1690|KIF1A|protein_coding|CODING|NM_004321.6|11|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,RCV000117403.2,,0.3548,0.3631,0.3618,0.45,0.65,0.35,,0.000002(U),0.000(P),,0.0000(T),.,0.266237,4.33,4.33,-0.374000,0.820000,6.463000,0.483000,1.000000,1.000000,12.0657
synonymous_variant,C2orf54,SILENT,NM_001085437.2:p.Glu316Glu/c.948A>G,gaA/gaG,LOW,COSM1406877(7),0.567692,0.5278,rs6708304,,,,,,chr2,241828012,241828012,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu316Glu/c.948A>G|447|C2orf54|protein_coding|CODING|NM_001085437.2|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu167Glu/c.501A>G|298|C2orf54|protein_coding|CODING|NM_001282921.1|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu148Glu/c.444A>G|279|C2orf54|protein_coding|CODING|NM_024861.3|4|1)","H1ESC:DNase1,IMR90:H3K27me3,H1ESC:CTCF",,,,0.4591,0.366,0.5219,0.59,0.77,0.50,,,,,,,,,,,,,,,,
missense_variant,C2orf54,MISSENSE,NM_001085437.2:p.Leu309Pro/c.926T>C,cTg/cCg,MODERATE,COSM4133697(1),0.988219,1,rs6707568,0(D),"0.0,0.0(B,B)",-2.175(N),-0.9025(T),,chr2,241828034,241828034,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu309Pro/c.926T>C|447|C2orf54|protein_coding|CODING|NM_001085437.2|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu160Pro/c.479T>C|298|C2orf54|protein_coding|CODING|NM_001282921.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu141Pro/c.422T>C|279|C2orf54|protein_coding|CODING|NM_024861.3|4|1)","H1ESC:DNase1,IMR90:H3K27me3,H1ESC:CTCF",,,,0.9571,0.9885,0.9911,0.99,1.00,0.98,,0.000083(N),0.081(P),"3.59,3.59,3.59(T,T,T)",0.0000(T),0.076,-1.682303,4.19,4.19,-0.338000,0.768000,4.294000,0.022000,0.595000,1.000000,10.4642
synonymous_variant,C2orf54,SILENT,NM_001085437.2:p.Ser242Ser/c.726C>T,agC/agT,LOW,COSM3758112(2),0.527157,0.4415,rs10171067,,,,,,chr2,241830969,241830969,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser242Ser/c.726C>T|447|C2orf54|protein_coding|CODING|NM_001085437.2|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser93Ser/c.279C>T|298|C2orf54|protein_coding|CODING|NM_001282921.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser74Ser/c.222C>T|279|C2orf54|protein_coding|CODING|NM_024861.3|2|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.411,0.3473,0.5179,0.58,0.74,0.50,,,,,,,,,,,,,,,,
synonymous_variant,C2orf54,SILENT,NM_001085437.2:p.Arg230Arg/c.690G>A,agG/agA,LOW,COSM3758113(1),0.526558,0.4405,rs10195453,,,,,,chr2,241831005,241831005,C,T,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg230Arg/c.690G>A|447|C2orf54|protein_coding|CODING|NM_001085437.2|2|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg81Arg/c.243G>A|298|C2orf54|protein_coding|CODING|NM_001282921.1|2|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg62Arg/c.186G>A|279|C2orf54|protein_coding|CODING|NM_024861.3|2|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.411,0.3473,0.5179,0.57,0.74,0.50,,,,,,,,,,,,,,,,
missense_variant,C2orf54,MISSENSE,NM_001282921.1:p.Ala21Pro/c.61G>C,Gct/Cct,MODERATE,COSM3766555(1),0.526957,0.4405,rs6709469,0(D),0.047(B),,-1.0472(T),,chr2,241831296,241831296,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala21Pro/c.61G>C|298|C2orf54|protein_coding|CODING|NM_001282921.1|1|1),intron_variant(MODIFIER|||c.10+51G>C|279|C2orf54|protein_coding|CODING|NM_024861.3|1|1),intron_variant(MODIFIER|||c.515-116G>C|447|C2orf54|protein_coding|CODING|NM_001085437.2|1|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.411,0.3473,0.5179,0.57,0.73,0.49,,,1.000(P),2.7(T),0.0000(T),0.385,2.190207,1.96,-0.0733,0.591000,-0.028000,0.217000,0.152000,0.000000,0.000000,3.0239
synonymous_variant,C2orf54,SILENT,NM_001085437.2:p.Val157Val/c.471A>G,gtA/gtG,LOW,COSM3758114(1),0.527157,0.4405,rs4468809,,,,,,chr2,241834944,241834944,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val157Val/c.471A>G|447|C2orf54|protein_coding|CODING|NM_001085437.2|1|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.411,0.3473,0.5179,0.57,0.73,0.49,,,,,,,,,,,,,,,,
synonymous_variant,C2orf54,SILENT,NM_001085437.2:p.Ala12Ala/c.36C>T,gcC/gcT,LOW,COSM1565636(6),0.523962,0.4415,rs12105122,,,,,,chr2,241835379,241835379,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala12Ala/c.36C>T|447|C2orf54|protein_coding|CODING|NM_001085437.2|1|1),"H1ESC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.411,0.3487,0.5159,0.58,0.73,0.50,,,,,,,,,,,,,,,,
missense_variant,HDLBP,MISSENSE,NM_005336.4:p.Ser61Ala/c.181T>G,Tct/Gct,MODERATE,,0.999601,1,rs11891776,1(T),"0.0,0.0(B,B)",-0.115(N),-0.9202(T),,chr2,242203916,242203916,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser97Ala/c.289T>G|1235|HDLBP|protein_coding|CODING|NM_001243900.1|5|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser61Ala/c.181T>G|1268|HDLBP|protein_coding|CODING|NM_005336.4|4|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser61Ala/c.181T>G|1268|HDLBP|protein_coding|CODING|NM_203346.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.002621(N),1.000(P),"2.38,2.38,2.38,2.39,1.68,1.09,1.05,1.1,1.1,1.1,1.09,1.09,1.15,1.15,1.13,1.15(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.182,-1.082715,5.64,5.64,-0.215000,1.384000,0.824000,0.011000,0.181000,0.176000,15.1784
synonymous_variant,FARP2,SILENT,NM_014808.3:p.Gln143Gln/c.429A>G,caA/caG,LOW,,0.0846645,0.0744,rs2240479,,,,,,chr2,242350466,242350466,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln143Gln/c.429A>G|647|FARP2|protein_coding|CODING|NM_001282983.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln143Gln/c.429A>G|638|FARP2|protein_coding|CODING|NM_001282984.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln143Gln/c.429A>G|1054|FARP2|protein_coding|CODING|NM_014808.3|6|1)","H1ESC:H3K36me3,K562:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.1043,0.0548,0.0924,0.10,0.09,0.10,,,,,,,,,,,,,,,,
missense_variant,THAP4,MISSENSE,NM_015963.5:p.Ser121Gly/c.361A>G,Agc/Ggc,MODERATE,COSM3758134(4),0.610024,0.8889,rs7424328,0.68(T),0.0(B),-0.975(N),-0.9918(T),,chr2,242573211,242573211,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser121Gly/c.361A>G|577|THAP4|protein_coding|CODING|NM_015963.5|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.5908,0.4592,0.47,0.51,0.45,,0.247116(N),1.000(P),-3.78(D),0.0000(T),0.012,-1.141827,4.69,-1.86,-1.557000,-0.591000,-0.450000,0.000000,0.000000,0.000000,5.9451
missense_variant,ATG4B,MISSENSE,NM_013325.4:p.Leu354Gln/c.1061T>A,cTg/cAg,MODERATE,COSM442644(1),0.879393,0.8651,rs7601000,0.64(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.15(N),-1.0017(T),,chr2,242610773,242610773,T,A,hom,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu354Gln/c.1061T>A|393|ATG4B|protein_coding|CODING|NM_013325.4|12|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu354Gln/c.1061T>A|380|ATG4B|protein_coding|CODING|NM_178326.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8691,0.8674,0.8082,0.83,0.93,0.79,,0.000252(N),0.936(P),"1.05,1.06,1.06,1.06,1.06,1.03(T,T,T,T,T,T)",0.0000(T),0.313,0.300353,5.18,2.7,-0.364000,0.289000,1.370000,0.987000,1.000000,1.000000,5.7205
synonymous_variant,DTYMK,SILENT,NM_012145.3:p.Asp115Asp/c.345T>C,gaT/gaC,LOW,COSM4001617(1),0.340056,0.1994,rs1131195,,,,-0.9377(T),,chr2,242618050,242618050,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp115Asp/c.345T>C|212|DTYMK|protein_coding|CODING|NM_012145.3|4|1),intron_variant(MODIFIER|||c.331-58T>C|188|DTYMK|protein_coding|CODING|NM_001165031.1|3|1),non_coding_exon_variant(MODIFIER|||n.439T>C||DTYMK||CODING|NR_033255.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2536,0.5,0.4324,0.40,0.34,0.43,,,0.000(P),,0.0000(T),.,-0.477370,5.35,-5.33,-0.290000,-1.261000,-1.710000,0.340000,0.743000,0.003000,5.232
missense_variant,D2HGDH,MISSENSE,NM_152783.4:p.Arg55Gln/c.164G>A,cGg/cAg,MODERATE,COSM3758135(5),0.226438,0.1617,rs77940364,0.53(T),0.024(B),0.78(N),-1.1028(T),,chr2,242674803,242674803,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg55Gln/c.164G>A|521|D2HGDH|protein_coding|CODING|NM_152783.4|2|1),intron_variant(MODIFIER|||c.-111+693G>A|387|D2HGDH|protein_coding|CODING|NM_001287249.1|1|1),non_coding_exon_variant(MODIFIER|||n.373G>A||D2HGDH||CODING|NR_109778.1|2|1)","NHEK:CTCF,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HMEC:CTCF,HUVEC:Cmyc,HeLa-S3:PolII,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.2628,0.2017,0.3191,0.27,0.19,0.31,,0.954463(N),1.000(P),"-2.36,-1.97,-2.36(D,D,D)",0.0000(T),0.041,1.622085,4.13,-6.41,0.297000,-1.798000,-0.267000,0.607000,0.395000,0.045000,13.5346
missense_variant,D2HGDH,MISSENSE,NM_152783.4:p.Val338Ile/c.1012G>A,Gtc/Atc,MODERATE,COSM1406988(1),0.223642,0.122,rs1106639,,,0.985(L),-1.0949(T),,chr2,242690675,242690675,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val204Ile/c.610G>A|387|D2HGDH|protein_coding|CODING|NM_001287249.1|7|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val338Ile/c.1012G>A|521|D2HGDH|protein_coding|CODING|NM_152783.4|8|1),intron_variant(MODIFIER|||n.1063-4589G>A||D2HGDH||CODING|NR_109778.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2157,0.183,0.2604,0.27,0.28,0.27,,,0.000(P),,0.0000(T),.,1.384144,5.06,3.24,0.561000,0.524000,1.731000,0.539000,0.070000,0.941000,6.8186
missense_variant,CHL1,MISSENSE,NM_006614.3:p.Thr303Ala/c.907A>G,Aca/Gca,MODERATE,,0.851038,1,rs13060847,0.56(T),"0.105,0.02(B,B)",1.585(L),-0.9148(T),,chr3,391100,391100,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr287Ala/c.859A>G|1208|CHL1|protein_coding|CODING|NM_001253387.1|9|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr303Ala/c.907A>G|1171|CHL1|protein_coding|CODING|NM_001253388.1|8|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr303Ala/c.907A>G|1224|CHL1|protein_coding|CODING|NM_006614.3|10|1)",H1ESC:H3K27me3,,,,1,0.951,0.996,0.84,0.52,1.00,,0.077721(N),1.000(P),"-0.21,-0.21(T,T)",0.0000(T),0.033,0.078292,5.22,4.05,0.528000,2.106000,0.891000,0.780000,0.946000,0.017000,5.6283
missense_variant,CHL1,MISSENSE,NM_006614.3:p.Ile1050Val/c.3148A>G,Ata/Gta,MODERATE,,0.958466,1,rs6442827,0.88(T),"0.0,0.003(B,B)",-0.145(N),-0.9950(T),,chr3,439963,439963,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1034Val/c.3100A>G|1208|CHL1|protein_coding|CODING|NM_001253387.1|24|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1050Val/c.3148A>G|1224|CHL1|protein_coding|CODING|NM_006614.3|25|1),intron_variant(MODIFIER|||c.3095-737A>G|1171|CHL1|protein_coding|CODING|NM_001253388.1|22|1)",,,,,1,0.9841,1,0.96,0.88,1.00,,0.948691(N),1.000(P),"0.22,0.23(T,T)",0.0000(T),0.018,0.645869,5.72,-4.87,-0.297000,-0.712000,1.003000,0.987000,0.009000,0.573000,8.2322
synonymous_variant,CHL1,SILENT,NM_006614.3:p.Asn1071Asn/c.3213T>C,aaT/aaC,LOW,,0.96885,1,rs6771714,,,,,,chr3,440028,440028,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1055Asn/c.3165T>C|1208|CHL1|protein_coding|CODING|NM_001253387.1|24|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1071Asn/c.3213T>C|1224|CHL1|protein_coding|CODING|NM_006614.3|25|1),intron_variant(MODIFIER|||c.3095-672T>C|1171|CHL1|protein_coding|CODING|NM_001253388.1|22|1)",,,,,1,0.9899,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CNTN6,SILENT,NM_001289080.1:p.Asn53Asn/c.159T>C,aaT/aaC,LOW,,0.470048,0.5119,rs2013828,,,,,,chr3,1262474,1262474,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn53Asn/c.159T>C|1028|CNTN6|protein_coding|CODING|NM_001289080.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn53Asn/c.159T>C|1028|CNTN6|protein_coding|CODING|NM_014461.3|3|1),5_prime_UTR_variant(MODIFIER||7062|c.-58T>C|956|CNTN6|protein_coding|CODING|NM_001289081.1|2|1)",,,,,0.5562,0.4813,0.3419,0.38,0.44,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CNTN6,SILENT,NM_001289080.1:p.Lys113Lys/c.339G>A,aaG/aaA,LOW,,0.00259585,0,rs141581143,,,,,,chr3,1269658,1269658,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys113Lys/c.339G>A|1028|CNTN6|protein_coding|CODING|NM_001289080.1|4|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys41Lys/c.123G>A|956|CNTN6|protein_coding|CODING|NM_001289081.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys113Lys/c.339G>A|1028|CNTN6|protein_coding|CODING|NM_014461.3|4|1)",,,,,0,0.0029,0.005,0.01,0.01,0.01,,,,,,,,,,,,,,,,
synonymous_variant,CNTN6,SILENT,NM_001289080.1:p.Val753Val/c.2259G>A,gtG/gtA,LOW,COSM3759804(3),0.483427,0.6508,rs2291101,,,,,,chr3,1424718,1424718,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val753Val/c.2259G>A|1028|CNTN6|protein_coding|CODING|NM_001289080.1|18|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val681Val/c.2043G>A|956|CNTN6|protein_coding|CODING|NM_001289081.1|17|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val753Val/c.2259G>A|1028|CNTN6|protein_coding|CODING|NM_014461.3|18|1)",,,,,0.5153,0.5476,0.3917,0.41,0.37,0.42,,,,,,,,,,,,,,,,
synonymous_variant,CNTN6,SILENT,NM_001289080.1:p.Val762Val/c.2286C>T,gtC/gtT,LOW,,0.153155,0.0645,rs4684146,,,,,,chr3,1424745,1424745,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val762Val/c.2286C>T|1028|CNTN6|protein_coding|CODING|NM_001289080.1|18|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val690Val/c.2070C>T|956|CNTN6|protein_coding|CODING|NM_001289081.1|17|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val762Val/c.2286C>T|1028|CNTN6|protein_coding|CODING|NM_014461.3|18|1)",,,,,0.1237,0.1744,0.1571,0.20,0.23,0.19,,,,,,,,,,,,,,,,
synonymous_variant,CNTN6,SILENT,NM_001289080.1:p.Ser797Ser/c.2391T>G,tcT/tcG,LOW,COSM4157342(1),0.264577,0.3452,rs2291100,,,,,,chr3,1424850,1424850,T,G,het,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser797Ser/c.2391T>G|1028|CNTN6|protein_coding|CODING|NM_001289080.1|18|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser725Ser/c.2175T>G|956|CNTN6|protein_coding|CODING|NM_001289081.1|17|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser797Ser/c.2391T>G|1028|CNTN6|protein_coding|CODING|NM_014461.3|18|1)",,,,,0.3507,0.2781,0.3877,0.28,0.09,0.37,,,,,,,,,,,,,,,,
synonymous_variant,CNTN4,SILENT,NM_001206955.1:p.Arg731Arg/c.2193A>T,cgA/cgT,LOW,COSM3760040(3),0.364816,0.5873,rs6802588,,,,,,chr3,3081750,3081750,A,T,het,"synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg731Arg/c.2193A>T|1026|CNTN4|protein_coding|CODING|NM_001206955.1|19|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg402Arg/c.1206A>T|697|CNTN4|protein_coding|CODING|NM_001206956.1|11|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg731Arg/c.2193A>T|1026|CNTN4|protein_coding|CODING|NM_175607.2|20|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg403Arg/c.1209A>T|698|CNTN4|protein_coding|CODING|NM_175613.2|11|1),non_coding_exon_variant(MODIFIER|||n.607T>A||CNTN4-AS1||NON_CODING|NR_046554.1|4|1)",HepG2:H3K27me3,,,,0.4724,0.4107,0.3668,0.31,0.13,0.40,,,,,,,,,,,,,,,,
synonymous_variant,CNTN4,SILENT,NM_001206955.1:p.Asp756Asp/c.2268T>C,gaT/gaC,LOW,,0.896565,0.8849,rs339285,,,,,,chr3,3081825,3081825,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp756Asp/c.2268T>C|1026|CNTN4|protein_coding|CODING|NM_001206955.1|19|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp427Asp/c.1281T>C|697|CNTN4|protein_coding|CODING|NM_001206956.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp756Asp/c.2268T>C|1026|CNTN4|protein_coding|CODING|NM_175607.2|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp428Asp/c.1284T>C|698|CNTN4|protein_coding|CODING|NM_175613.2|11|1),non_coding_exon_variant(MODIFIER|||n.532A>G||CNTN4-AS1||NON_CODING|NR_046554.1|4|1)",HepG2:H3K27me3,,,,0.8047,0.8804,0.9095,0.93,0.96,0.91,,,,,,,,,,,,,,,,
missense_variant,TRNT1,MISSENSE,NM_182916.2:p.Pro23Leu/c.68C>T,cCg/cTg,MODERATE,,0.904553,1,rs334773,0.66(T),"0.0,0.0(B,B)",-1.59(N),-1.0116(T),,chr3,3170792,3170792,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro23Leu/c.68C>T|434|TRNT1|protein_coding|CODING|NM_182916.2|2|1),"H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,1,0.9683,0.995,0.90,0.71,1.00,,0.379924(N),1.000(P),"2.11,2.11,2.11,2.11,2.11,2.11(T,T,T,T,T,T)",0.0000(T),0.175,-1.083991,4.6,3.44,-0.361000,0.162000,1.435000,0.532000,0.239000,0.980000,6.4478
synonymous_variant,TRNT1,SILENT,NM_182916.2:p.Ala316Ala/c.948A>G,gcA/gcG,LOW,COSM3760047(1),0.739018,0.9494,rs1705805,,,,,,chr3,3189279,3189279,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala316Ala/c.948A>G|434|TRNT1|protein_coding|CODING|NM_182916.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8252,0.755,0.837,0.73,0.52,0.84,,,,,,,,,,,,,,,,
synonymous_variant,LRRN1,SILENT,NM_020873.5:p.Ala85Ala/c.255A>G,gcA/gcG,LOW,,0.986821,0.996,rs4685689,,,,,,chr3,3886580,3886580,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala85Ala/c.255A>G|716|LRRN1|protein_coding|CODING|NM_020873.5|2|1),H1ESC:H3K36me3,,,,1,0.9971,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LRRN1,SILENT,NM_020873.5:p.Gln256Gln/c.768A>G,caA/caG,LOW,COSM3760073(1),0.251997,0.3224,rs9844909,,,,,,chr3,3887093,3887093,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln256Gln/c.768A>G|716|LRRN1|protein_coding|CODING|NM_020873.5|2|1),H1ESC:H3K36me3,,,,0.362,0.2032,0.2525,0.20,0.14,0.23,,,,,,,,,,,,,,,,
synonymous_variant,LRRN1,SILENT,NM_020873.5:p.Asn517Asn/c.1551T>C,aaT/aaC,LOW,,0.478435,0.254,rs2120609,,,,,,chr3,3887876,3887876,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn517Asn/c.1551T>C|716|LRRN1|protein_coding|CODING|NM_020873.5|2|1),H1ESC:H3K36me3,,,,0.4499,0.572,0.7336,0.63,0.46,0.72,,,,,,,,,,,,,,,,
synonymous_variant,SETMAR,SILENT,NM_006515.3:p.Arg445Arg/c.1335A>G,cgA/cgG,LOW,,0.415535,0.1062,rs7647539,,,,,,chr3,4358210,4358210,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg306Arg/c.918A>G|545|SETMAR|protein_coding|CODING|NM_001243723.1|4|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg445Arg/c.1335A>G|684|SETMAR|protein_coding|CODING|NM_006515.3|3|1),non_coding_exon_variant(MODIFIER|||n.1435A>G||SETMAR||CODING|NR_024022.1|3|1),non_coding_exon_variant(MODIFIER|||n.653A>G||SETMAR||CODING|NR_075073.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2444,0.2954,0.3559,0.49,0.80,0.33,,,,,,,,,,,,,,,,
synonymous_variant,SUMF1,SILENT,NM_182760.3:p.Thr372Thr/c.1116T>C,acT/acC,LOW,COSM3760098(2),0.760383,0.7609,rs2633852,,,,,,chr3,4403837,4403837,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr347Thr/c.1041T>C|349|SUMF1|protein_coding|CODING|NM_001164674.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr352Thr/c.1056T>C|354|SUMF1|protein_coding|CODING|NM_001164675.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr372Thr/c.1116T>C|374|SUMF1|protein_coding|CODING|NM_182760.3|9|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000082714.1,,0.7648,0.6945,0.5905,0.65,0.85,0.55,,,,,,,,,,,,,,,,
synonymous_variant,ITPR1,SILENT,NM_001168272.1:p.Leu871Leu/c.2613A>C,ctA/ctC,LOW,,0.332867,0.2897,rs2306877,,,,,,chr3,4716811,4716811,A,C,het,"synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu886Leu/c.2658A>C|2710|ITPR1|protein_coding|CODING|NM_001099952.2|23|1),synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu871Leu/c.2613A>C|2695|ITPR1|protein_coding|CODING|NM_002222.5|22|1),synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu871Leu/c.2613A>C|2743|ITPR1|protein_coding|CODING|NM_001168272.1|22|1)","GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117300.2,,0.4499,0.3184,0.1958,0.23,0.36,0.18,,,,,,,,,,,,,,,,
missense_variant,ITPR1,MISSENSE,NM_001168272.1:p.Gln1184Glu/c.3550C>G,Caa/Gaa,MODERATE,,,,,0.78(T),"0.245,0.257(B,B)",0.955(L),-0.1296(T),,chr3,4726783,4726783,C,G,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1190Glu/c.3568C>G|2710|ITPR1|protein_coding|CODING|NM_001099952.2|30|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1184Glu/c.3550C>G|2743|ITPR1|protein_coding|CODING|NM_001168272.1|29|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1175Glu/c.3523C>G|2695|ITPR1|protein_coding|CODING|NM_002222.5|29|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000002(D),1.000(D),"-2.44,-2.44,-2.44,-2.44,-2.44,-2.44(D,D,D,D,D,D)",0.5097(D),0.612,2.917635,5.25,5.25,0.591000,2.425000,7.667000,0.717000,0.063000,1.000000,18.8703
synonymous_variant,ITPR1,SILENT,NM_001168272.1:p.Thr1708Thr/c.5124T>C,acT/acC,LOW,,0.512181,0.2649,rs7613447,,,,,,chr3,4767262,4767262,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr1708Thr/c.5124T>C|2743|ITPR1|protein_coding|CODING|NM_001168272.1|40|1),intron_variant(MODIFIER|||c.5077-7510T>C|2710|ITPR1|protein_coding|CODING|NM_001099952.2|39|1),intron_variant(MODIFIER|||c.5032-7510T>C|2695|ITPR1|protein_coding|CODING|NM_002222.5|38|1)","GM12878:H3K36me3,IMR90:DNase1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4959,0.6542,0.7873,0.71,0.48,0.81,,,,,,,,,,,,,,,,
synonymous_variant,ITPR1,SILENT,NM_001168272.1:p.Asn2022Asn/c.6066T>C,aaT/aaC,LOW,,0.96266,0.9782,rs6442905,,,,,,chr3,4817057,4817057,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1989Asn/c.5967T>C|2710|ITPR1|protein_coding|CODING|NM_001099952.2|44|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2022Asn/c.6066T>C|2743|ITPR1|protein_coding|CODING|NM_001168272.1|46|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1974Asn/c.5922T>C|2695|ITPR1|protein_coding|CODING|NM_002222.5|43|1)","GM12878:H3K27ac,GM12878:H3K36me3,CD4:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3",,,,0.9468,0.9741,0.9722,0.97,0.95,0.97,,,,,,,,,,,,,,,,
synonymous_variant,ITPR1,SILENT,NM_001168272.1:p.Thr2530Thr/c.7590T>C,acT/acC,LOW,,0.790935,0.9603,rs711631,,,,,,chr3,4856180,4856180,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr2497Thr/c.7491T>C|2710|ITPR1|protein_coding|CODING|NM_001099952.2|55|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr2530Thr/c.7590T>C|2743|ITPR1|protein_coding|CODING|NM_001168272.1|57|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr2482Thr/c.7446T>C|2695|ITPR1|protein_coding|CODING|NM_002222.5|54|1)","H1ESC:H3K36me3,K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:Nfe2,GM12878:H3K36me3,HUVEC:H3K9ac,K562:FAIRE,K562:Znf263,K562:Cfos,HUVEC:DNase1,K562:USF1,NH-A:DNase1,K562:Cmyc,IMR90:H3K36me3,HUVEC:Cmyc,K562:E2F6,K562:Cjun,K562:FOSL1,K562:H3K9ac,K562:Egr1,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,K562:HEY1,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1,K562:Jund",,RCV000117304.2,,0.7014,0.8213,0.836,0.80,0.73,0.84,,,,,,,,,,,,,,,,
synonymous_variant,ITPR1,SILENT,NM_001168272.1:p.Lys2548Lys/c.7644G>A,aaG/aaA,LOW,,0.58746,0.7202,rs901854,,,,,,chr3,4856234,4856234,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys2515Lys/c.7545G>A|2710|ITPR1|protein_coding|CODING|NM_001099952.2|55|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys2548Lys/c.7644G>A|2743|ITPR1|protein_coding|CODING|NM_001168272.1|57|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys2500Lys/c.7500G>A|2695|ITPR1|protein_coding|CODING|NM_002222.5|54|1)","H1ESC:H3K36me3,K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:Nfe2,GM12878:H3K36me3,HUVEC:H3K9ac,K562:FAIRE,K562:Znf263,K562:Cfos,HUVEC:DNase1,K562:USF1,NH-A:DNase1,K562:Cmyc,IMR90:H3K36me3,HUVEC:Cmyc,K562:E2F6,K562:Cjun,K562:FOSL1,K562:H3K9ac,K562:Egr1,K562:Sirt6,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,K562:HEY1,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1,K562:Jund",,RCV000117305.2,,0.5654,0.5346,0.5885,0.60,0.58,0.60,,,,,,,,,,,,,,,,
synonymous_variant,EDEM1,SILENT,NM_014674.2:p.Ala205Ala/c.615C>A,gcC/gcA,LOW,,0.917332,0.9435,rs410509,,,,,,chr3,5241309,5241309,C,A,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala205Ala/c.615C>A|657|EDEM1|protein_coding|CODING|NM_014674.2|3|1),"H1ESC:H3K36me3,CD4:DNase1,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:PU1,K562:SP1,GM06990:DNase1",,,,0.8599,0.987,0.9682,0.94,0.88,0.98,,,,,,,,,,,,,,,,
missense_variant,GRM7,MISSENSE,NM_181874.2:p.Tyr433Phe/c.1298A>T,tAc/tTc,MODERATE,COSM3760232(1),0.157348,0.0744,rs2229902,0.7(T),"0.109,0.239,0.175,0.008(B,B,B,B)",0.995(L),-0.9811(T),,chr3,7494417,7494417,A,T,het,"missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr433Phe/c.1298A>T|915|GRM7|protein_coding|CODING|NM_000844.3|6|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr433Phe/c.1298A>T|922|GRM7|protein_coding|CODING|NM_181874.2|6|1)",,,,,0.0982,0.2507,0.4046,0.32,0.10,0.44,,0.017169(N),0.187(P),"-1.66,-1.66,-1.66,-1.66,-1.66,-1.66(D,D,D,D,D,D)",0.0000(T),0.125,1.213739,5.88,3.39,0.533000,0.414000,2.335000,0.996000,0.994000,0.817000,6.5412
synonymous_variant,GRM7,SILENT,NM_181874.2:p.Tyr732Tyr/c.2196T>C,taT/taC,LOW,,0.525559,0.4355,rs1485175,,,,,,chr3,7620789,7620789,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr732Tyr/c.2196T>C|915|GRM7|protein_coding|CODING|NM_000844.3|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr732Tyr/c.2196T>C|922|GRM7|protein_coding|CODING|NM_181874.2|8|1)",,,,,0.5061,0.5144,0.5835,0.56,0.57,0.56,,,,,,,,,,,,,,,,
synonymous_variant,LMCD1,SILENT,NM_014583.3:p.Gly149Gly/c.447T>C,ggT/ggC,LOW,,0.129992,0.0288,rs3088339,,,,,,chr3,8590313,8590313,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly76Gly/c.228T>C|292|LMCD1|protein_coding|CODING|NM_001278233.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly37Gly/c.111T>C|253|LMCD1|protein_coding|CODING|NM_001278234.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly149Gly/c.447T>C|247|LMCD1|protein_coding|CODING|NM_001278235.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly149Gly/c.447T>C|365|LMCD1|protein_coding|CODING|NM_014583.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2485,0.0663,0.1163,0.11,0.16,0.09,,,,,,,,,,,,,,,,
synonymous_variant,CAV3,SILENT,NM_001234.4:p.Phe41Phe/c.123T>C,ttT/ttC,LOW,COSM1131343(1),0.152955,0.0139,rs13087941,,,,,,chr3,8787220,8787220,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe41Phe/c.123T>C|151|CAV3|protein_coding|CODING|NM_001234.4|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe41Phe/c.123T>C|151|CAV3|protein_coding|CODING|NM_033337.2|2|1)","GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000024401.2|RCV000039797.4,,0.0532,0.1311,0.2326,0.26,0.28,0.24,,,,,,,,,,,,,,,,
synonymous_variant,OXTR,SILENT,NM_000916.3:p.Asn230Asn/c.690C>T,aaC/aaT,LOW,COSM447068(2),0.247604,0.0546,rs237902,,,,,,chr3,8809184,8809184,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn230Asn/c.690C>T|389|OXTR|protein_coding|CODING|NM_000916.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.2894,0.2305,0.327,0.33,0.30,0.34,,,,,,,,,,,,,,,,
missense_variant,OXTR,MISSENSE,NM_000916.3:p.Ala218Thr/c.652G>A,Gcc/Acc,MODERATE,,0.142572,0.1696,rs4686302,0.33(T),0.01(B),0.18(N),-0.9972(T),,chr3,8809222,8809222,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala218Thr/c.652G>A|389|OXTR|protein_coding|CODING|NM_000916.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,GM12878:ZEB1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.1411,0.2695,0.1183,0.10,0.07,0.12,,0.020250(N),0.000(P),1.22(T),0.0000(T),0.071,0.640665,5.27,3.49,0.561000,0.623000,0.913000,0.922000,0.926000,0.831000,10.46
synonymous_variant,OXTR,SILENT,NM_000916.3:p.Asn57Asn/c.171C>T,aaC/aaT,LOW,COSM4158672(2),0.717851,0.7272,rs2228485,,,,,,chr3,8809703,8809703,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn57Asn/c.171C>T|389|OXTR|protein_coding|CODING|NM_000916.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.8609,0.5937,0.7604,0.72,0.65,0.76,,,,,,,,,,,,,,,,
missense_variant,RAD18,MISSENSE,NM_020165.3:p.Arg302Gln/c.905G>A,cGa/cAa,MODERATE,,0.647564,0.3591,rs373572,0.76(T),0.0(B),-1.995(N),-0.9882(T),,chr3,8955389,8955389,C,T,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg302Gln/c.905G>A|495|RAD18|protein_coding|CODING|NM_020165.3|8|1),"NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.772,0.7118,0.7624,0.70,0.67,0.72,,0.000016(N),1.000(P),1.85(T),0.0000(T),0.02,0.558314,4.47,4.47,-0.381000,0.849000,2.422000,0.916000,1.000000,1.000000,7.0217
missense_variant,RAD18,MISSENSE,NM_020165.3:p.Lys271Thr/c.812A>C,aAa/aCa,MODERATE,,,,,0.01(D),0.683(P),2.02(M),-0.7969(T),,chr3,8977632,8977632,T,G,het,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys271Thr/c.812A>C|495|RAD18|protein_coding|CODING|NM_020165.3|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000079(D),0.704(D),1.54(T),0.1078(T),0.344,3.926897,5.84,3.51,0.397000,1.053000,2.203000,0.980000,0.997000,0.991000,7.7436
synonymous_variant,THUMPD3,SILENT,NM_001114092.1:p.Ser28Ser/c.84T>C,agT/agC,LOW,,0.619209,0.5813,rs1054975,,,,,,chr3,9406836,9406836,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser28Ser/c.84T>C|507|THUMPD3|protein_coding|CODING|NM_001114092.1|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser28Ser/c.84T>C|507|THUMPD3|protein_coding|CODING|NM_015453.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7935,0.5922,0.6034,0.59,0.56,0.61,,,,,,,,,,,,,,,,
synonymous_variant,THUMPD3,SILENT,NM_001114092.1:p.Cys344Cys/c.1032T>C,tgT/tgC,LOW,,0.617212,0.5665,rs2596916,,,,-0.9211(T),,chr3,9422210,9422210,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys344Cys/c.1032T>C|507|THUMPD3|protein_coding|CODING|NM_001114092.1|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys344Cys/c.1032T>C|507|THUMPD3|protein_coding|CODING|NM_015453.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7945,0.5908,0.6093,0.59,0.56,0.61,,,0.000(P),,0.0000(T),.,0.770195,5.55,3.2,0.454000,0.943000,1.117000,0.708000,0.993000,1.000000,7.1043
synonymous_variant,THUMPD3,SILENT,NM_001114092.1:p.Lys417Lys/c.1251G>A,aaG/aaA,LOW,,0.604433,0.5655,rs1129170,,,,-0.9010(T),,chr3,9425911,9425911,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys417Lys/c.1251G>A|507|THUMPD3|protein_coding|CODING|NM_001114092.1|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys417Lys/c.1251G>A|507|THUMPD3|protein_coding|CODING|NM_015453.2|9|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7648,0.5821,0.5915,0.58,0.55,0.59,,,0.000(P),,0.0000(T),.,1.123543,5.66,1.89,-0.143000,0.773000,1.283000,0.988000,1.000000,1.000000,8.9034
synonymous_variant,SETD5,SILENT,NM_001080517.2:p.Asn1377Asn/c.4131C>T,aaC/aaT,LOW,,0.0233626,0,rs17747739,,,,,,chr3,9517577,9517577,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1377Asn/c.4131C>T|1442|SETD5|protein_coding|CODING|NM_001080517.2|23|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1279Asn/c.3837C>T|1344|SETD5|protein_coding|CODING|NM_001292043.1|25|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0504,0.0567,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,OGG1,MISSENSE,NM_016820.3:p.Pro332Ala/c.994C>G,Ccc/Gcc,MODERATE,COSM3760279(2),0.302117,0.5476,rs1052133,,,1.24(L),-0.9027(T),,chr3,9798773,9798773,C,G,het,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro332Ala/c.994C>G|410|OGG1|protein_coding|CODING|NM_016820.3|7|1),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser326Cys/c.977C>G|345|OGG1|protein_coding|CODING|NM_002542.5|7|1),3_prime_UTR_variant(MODIFIER||246|c.*246C>G|324|OGG1|protein_coding|CODING|NM_016819.3|6|1),downstream_gene_variant(MODIFIER||256||370|CAMK1|protein_coding|CODING|NM_003656.4||1),intron_variant(MODIFIER|||c.565+5140C>G|195|OGG1|protein_coding|CODING|NM_016827.2|3|1),intron_variant(MODIFIER|||c.747+2204C>G|357|OGG1|protein_coding|CODING|NM_016826.2|4|1),intron_variant(MODIFIER|||c.948+273C>G|356|OGG1|protein_coding|CODING|NM_016828.2|6|1),intron_variant(MODIFIER|||c.948+273C>G|322|OGG1|protein_coding|CODING|NM_016829.2|6|1),intron_variant(MODIFIER|||c.948+273C>G|424|OGG1|protein_coding|CODING|NM_016821.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3558,0.2939,0.2028,0.21,0.17,0.23,,,1.000(P),,0.0000(T),.,0.047094,5.05,-1.32,0.655000,-0.141000,0.037000,0.006000,0.000000,0.000000,3.5612
synonymous_variant,TTLL3,SILENT,NM_001025930.3:p.Arg432Arg/c.1296C>T,cgC/cgT,LOW,COSM3760293(1),0.473442,0.2093,rs3732527,0(D),,,-0.9596(T),,chr3,9867625,9867625,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg432Arg/c.1296C>T|915|TTLL3|protein_coding|CODING|NM_001025930.3|8|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg350Arg/c.1050C>T|625|ARPC4-TTLL3|protein_coding|CODING|NM_001198793.1|9|1),non_coding_exon_variant(MODIFIER|||n.1965C>T||TTLL3||CODING|NR_037162.1|8|1)","K562:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.4039,0.4438,0.7167,0.65,0.58,0.68,,0.000001(U),0.000(P),2.88(T),0.0000(T),.,0.450910,4.75,-6.5,-1.165000,-0.650000,-2.495000,0.444000,0.987000,0.000000,0.834
synonymous_variant,TTLL3,SILENT,NM_001025930.3:p.Gln587Gln/c.1761G>A,caG/caA,LOW,COSM3760296(2),0.272963,0.1577,rs2290303,,,,-0.9145(T),,chr3,9870857,9870857,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln587Gln/c.1761G>A|915|TTLL3|protein_coding|CODING|NM_001025930.3|10|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln505Gln/c.1515G>A|625|ARPC4-TTLL3|protein_coding|CODING|NM_001198793.1|11|1),non_coding_exon_variant(MODIFIER|||n.2262G>A||TTLL3||CODING|NR_037162.1|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2495,0.3112,0.5746,0.39,0.18,0.50,,,0.036(P),,0.0000(T),.,0.681788,4.93,0.73,0.563000,0.489000,0.301000,0.977000,0.650000,0.050000,5.6426
missense_variant,TTLL3,MISSENSE,NM_001025930.3:p.Met645Arg/c.1934T>G,aTg/aGg,MODERATE,COSM447135(2),0.481829,0.2173,rs2290305,,,-1.43(N),-0.9942(T),,chr3,9871030,9871030,T,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met645Arg/c.1934T>G|915|TTLL3|protein_coding|CODING|NM_001025930.3|10|1),missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met563Arg/c.1688T>G|625|ARPC4-TTLL3|protein_coding|CODING|NM_001198793.1|11|1),non_coding_exon_variant(MODIFIER|||n.2435T>G||TTLL3||CODING|NR_037162.1|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4162,0.4553,0.7296,0.66,0.58,0.70,,,1.000(P),,0.0000(T),.,-0.568384,5.03,4.14,-0.215000,1.138000,2.271000,0.715000,0.999000,0.062000,2.6551
synonymous_variant,RPUSD3,SILENT,NM_173659.3:p.Val28Val/c.84C>G,gtC/gtG,LOW,,0.0938498,0.0833,rs2290306,,,,-1.0459(T),,chr3,9885615,9885615,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val28Val/c.84C>G|336|RPUSD3|protein_coding|CODING|NM_001142547.1|1|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val28Val/c.84C>G|351|RPUSD3|protein_coding|CODING|NM_173659.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,K562:SP2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:SP1,H1ESC:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:Cfos,CD4:PolII,GM12878:Cfos,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.1074,0.1037,0.0567,0.08,0.10,0.06,,,1.000(P),,0.0007(T),.,0.467541,4.41,0.45,-0.824000,-0.137000,-0.415000,0.000000,0.000000,0.000000,4.6474
synonymous_variant,JAGN1,SILENT,NM_032492.3:p.Thr32Thr/c.96T>C,acT/acC,LOW,,0.6877,0.7212,rs279553,,,,,,chr3,9934605,9934605,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr32Thr/c.96T>C|183|JAGN1|protein_coding|CODING|NM_032492.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.683,0.6326,0.7058,0.69,0.69,0.69,,,,,,,,,,,,,,,,
missense_variant,IL17RC,MISSENSE,NM_153461.3:p.Gln378Arg/c.1133A>G,cAa/cGa,MODERATE,,0.997404,1,rs279549,1(T),"0.001,0.001,0.0,0.0,0.001,0.0,0.001(B,B,B,B,B,B,B)",-0.145(N),-0.9709(T),,chr3,9970031,9970031,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln307Arg/c.920A>G|707|IL17RC|protein_coding|CODING|NM_001203263.1|11|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln307Arg/c.920A>G|690|IL17RC|protein_coding|CODING|NM_001203264.1|11|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln292Arg/c.875A>G|688|IL17RC|protein_coding|CODING|NM_001203265.1|10|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln292Arg/c.875A>G|705|IL17RC|protein_coding|CODING|NM_032732.5|10|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln307Arg/c.920A>G|720|IL17RC|protein_coding|CODING|NM_153460.3|11|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln378Arg/c.1133A>G|791|IL17RC|protein_coding|CODING|NM_153461.3|11|1),non_coding_exon_variant(MODIFIER|||n.1328A>G||IL17RC||CODING|NR_037807.1|9|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,0.9881,1.00,1.00,0.99,,0.412122(N),1.000(P),"2.69,2.69,2.69,2.69,2.69,2.69,2.69,2.69(T,T,T,T,T,T,T,T)",0.0000(T),0.249,-1.899133,5.28,1.66,-0.374000,0.220000,-1.010000,0.031000,0.016000,0.000000,6.9971
synonymous_variant,IL17RC,SILENT,NM_153461.3:p.Ala636Ala/c.1908G>A,gcG/gcA,LOW,COSM447146(1),0.0307508,0.0417,rs76999397,,,,,,chr3,9974809,9974809,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala552Ala/c.1656G>A|707|IL17RC|protein_coding|CODING|NM_001203263.1|18|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala535Ala/c.1605G>A|690|IL17RC|protein_coding|CODING|NM_001203264.1|17|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala533Ala/c.1599G>A|688|IL17RC|protein_coding|CODING|NM_001203265.1|17|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala550Ala/c.1650G>A|705|IL17RC|protein_coding|CODING|NM_032732.5|18|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala565Ala/c.1695G>A|720|IL17RC|protein_coding|CODING|NM_153460.3|19|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala636Ala/c.1908G>A|791|IL17RC|protein_coding|CODING|NM_153461.3|19|1),upstream_gene_variant(MODIFIER||715||420|CRELD1|protein_coding|CODING|NM_015513.4||1),upstream_gene_variant(MODIFIER||716||422|CRELD1|protein_coding|CODING|NM_001031717.3||1),upstream_gene_variant(MODIFIER||716||420|CRELD1|protein_coding|CODING|NM_001077415.2||1),non_coding_exon_variant(MODIFIER|||n.2103G>A||IL17RC||CODING|NR_037807.1|17|1)","NHEK:CTCF,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,K562:SETDB1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,GM12878:ZEB1,K562:Cmyc,HMEC:CTCF,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,NH-A:CTCF,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,HepG2:Rad21,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,HeLa-S3:E2F6,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.0603,0.0216,0.0378,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,IL17RC,SILENT,NM_153461.3:p.Gly782Gly/c.2346C>G,ggC/ggG,LOW,,0.98722,0.999,rs183956,,,,,,chr3,9975247,9975247,C,G,hom,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly698Gly/c.2094C>G|707|IL17RC|protein_coding|CODING|NM_001203263.1|18|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly681Gly/c.2043C>G|690|IL17RC|protein_coding|CODING|NM_001203264.1|17|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly679Gly/c.2037C>G|688|IL17RC|protein_coding|CODING|NM_001203265.1|17|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly696Gly/c.2088C>G|705|IL17RC|protein_coding|CODING|NM_032732.5|18|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly711Gly/c.2133C>G|720|IL17RC|protein_coding|CODING|NM_153460.3|19|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly782Gly/c.2346C>G|791|IL17RC|protein_coding|CODING|NM_153461.3|19|1),upstream_gene_variant(MODIFIER||277||420|CRELD1|protein_coding|CODING|NM_015513.4||1),upstream_gene_variant(MODIFIER||278||422|CRELD1|protein_coding|CODING|NM_001031717.3||1),upstream_gene_variant(MODIFIER||278||420|CRELD1|protein_coding|CODING|NM_001077415.2||1),non_coding_exon_variant(MODIFIER|||n.2541C>G||IL17RC||CODING|NR_037807.1|17|1)","HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HUVEC:Max,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:Max,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.9939,0.9942,0.9831,0.99,0.99,0.99,,,,,,,,,,,,,,,,
missense_variant,CRELD1,MISSENSE,NM_001031717.3:p.Met13Val/c.37A>G,Atg/Gtg,MODERATE,,0.995607,1,rs279552,0.6(T),"0.0,0.0(B,B)",-0.345(N),-1.0069(T),,chr3,9976159,9976159,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met13Val/c.37A>G|420|CRELD1|protein_coding|CODING|NM_015513.4|1|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met13Val/c.37A>G|422|CRELD1|protein_coding|CODING|NM_001031717.3|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met13Val/c.37A>G|420|CRELD1|protein_coding|CODING|NM_001077415.2|2|1),downstream_gene_variant(MODIFIER||854||707|IL17RC|protein_coding|CODING|NM_001203263.1||1),downstream_gene_variant(MODIFIER||854||690|IL17RC|protein_coding|CODING|NM_001203264.1||1),downstream_gene_variant(MODIFIER||854||688|IL17RC|protein_coding|CODING|NM_001203265.1||1),downstream_gene_variant(MODIFIER||854||705|IL17RC|protein_coding|CODING|NM_032732.5||1),downstream_gene_variant(MODIFIER||854||720|IL17RC|protein_coding|CODING|NM_153460.3||1),downstream_gene_variant(MODIFIER||854||791|IL17RC|protein_coding|CODING|NM_153461.3||1),downstream_gene_variant(MODIFIER||854|||IL17RC||CODING|NR_037807.1||1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,K562:CTCF,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,HepG2:H3K27ac,HUVEC:CTCF,HeLa-S3:H3K4me2,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,K562:H3K9ac,CD4:H3K4me1,K562:Rad21,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9969,0.9971,0.9831,0.99,1.00,0.99,,0.140661(N),1.000(P),"0.27,0.27,0.27,0.14(T,T,T,T)",0.0000(T),0.081,-0.715569,4.41,0.328,-1.157000,-0.160000,-0.480000,0.055000,0.026000,0.000000,1.1962
synonymous_variant,CRELD1,SILENT,NM_001031717.3:p.His373His/c.1119C>T,caC/caT,LOW,COSM149327(2),0.379992,0.1558,rs3774207,,,,,,chr3,9985656,9985656,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His373His/c.1119C>T|422|CRELD1|protein_coding|CODING|NM_001031717.3|11|1),downstream_gene_variant(MODIFIER||1570||981|PRRT3|protein_coding|CODING|NM_207351.3||1),intron_variant(MODIFIER|||c.1049-393C>T|420|CRELD1|protein_coding|CODING|NM_001077415.2|10|1),intron_variant(MODIFIER|||c.1049-393C>T|420|CRELD1|protein_coding|CODING|NM_015513.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2382,0.3256,0.2107,0.41,0.71,0.25,,,,,,,,,,,,,,,,
missense_variant,PRRT3,MISSENSE,NM_207351.3:p.Arg334Gly/c.1000C>G,Cgg/Ggg,MODERATE,COSM149328(2),0.38139,0.1558,rs59465469,,"0.0,0.0(B,B)",-1.1(N),-1.0493(T),,chr3,9990800,9990800,G,C,het,"missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg334Gly/c.1000C>G|981|PRRT3|protein_coding|CODING|NM_207351.3|2|1),intron_variant(MODIFIER|||n.430+647G>C||PRRT3-AS1||NON_CODING|NR_046734.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2423,0.3256,0.2137,0.39,0.69,0.25,,0.021588(N),1.000(P),"2.6,2.35(T,T)",0.0000(T),0.028,-1.814685,4.03,2.22,-0.978000,0.272000,0.038000,0.001000,0.005000,0.000000,6.3107
missense_variant,PRRT3,MISSENSE,NM_207351.3:p.Leu233Phe/c.699G>C,ttG/ttC,MODERATE,COSM3760306(1),0.382388,0.1558,rs55847233,,"0.001,0.0(B,B)",-0.425(N),-1.0613(T),,chr3,9991101,9991101,C,G,het,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu233Phe/c.699G>C|981|PRRT3|protein_coding|CODING|NM_207351.3|2|1),intron_variant(MODIFIER|||n.430+948C>G||PRRT3-AS1||NON_CODING|NR_046734.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2423,0.3271,0.2147,0.39,0.69,0.24,,0.117687(N),1.000(P),"2.56,2.26(T,T)",0.0000(T),0.035,-2.526495,3.73,1.9,-0.127000,0.191000,0.979000,0.027000,0.796000,0.897000,6.9449
missense_variant,PRRT3,MISSENSE,NM_207351.3:p.Ser213Pro/c.637T>C,Tcc/Ccc,MODERATE,COSM149329(2),0.381989,0.1558,rs55847610,,"0.0,0.0(B,B)",-1.04(N),-1.0719(T),,chr3,9991163,9991163,A,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser213Pro/c.637T>C|981|PRRT3|protein_coding|CODING|NM_207351.3|2|1),intron_variant(MODIFIER|||n.430+1010A>G||PRRT3-AS1||NON_CODING|NR_046734.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2423,0.3271,0.2147,0.39,0.67,0.24,,0.139323(N),1.000(P),"2.79,2.51(T,T)",0.0000(T),0.076,-2.631277,3.41,0.544,-0.748000,-0.124000,0.079000,0.139000,0.000000,0.001000,3.5365
missense_variant,PRRT3,MISSENSE,NM_207351.3:p.Gln138Glu/c.412C>G,Cag/Gag,MODERATE,,0.967053,0.9663,rs279601,,"0.0,0.0(B,B)",-1.04(N),-0.9892(T),,chr3,9991388,9991388,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln138Glu/c.412C>G|981|PRRT3|protein_coding|CODING|NM_207351.3|2|1),intron_variant(MODIFIER|||n.430+1235G>C||PRRT3-AS1||NON_CODING|NR_046734.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9121,0.9813,0.9712,0.98,1.00,0.97,,0.004864(N),1.000(P),"2.9,2.62(T,T)",0.0000(T),0.022,-2.222582,4.39,3.52,-0.731000,0.582000,0.500000,0.056000,0.019000,0.036000,6.9818
missense_variant,LOC401052,MISSENSE,NM_001008737.1:p.His33Arg/c.98A>G,cAt/cGt,MODERATE,COSM149331(1),0.35623,0.1369,rs2272118,,,,,,chr3,10049287,10049287,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His33Arg/c.98A>G|118|LOC401052|protein_coding|CODING|NM_001008737.1|4|1),downstream_gene_variant(MODIFIER||600|||EMC3-AS1||NON_CODING|NR_103821.1||1)","K562:PolII,IMR90:H3K36me3",,,,0.2454,0.3199,0.2087,0.37,0.63,0.25,,,,,,,,,,,,,,,,
synonymous_variant,FANCD2,SILENT,NM_033084.3:p.Val374Val/c.1122A>G,gtA/gtG,LOW,COSM3759562(1),,,rs34046352,,,,,,chr3,10085536,10085536,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val374Val/c.1122A>G|1451|FANCD2|protein_coding|CODING|NM_001018115.1|14|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val374Val/c.1122A>G|1471|FANCD2|protein_coding|CODING|NM_033084.3|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FANCD2,SILENT,NM_033084.3:p.Ser390Ser/c.1170C>T,agC/agT,LOW,,,,rs112887807,,,,,,chr3,10088299,10088299,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser390Ser/c.1170C>T|1451|FANCD2|protein_coding|CODING|NM_001018115.1|15|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser390Ser/c.1170C>T|1471|FANCD2|protein_coding|CODING|NM_033084.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FANCD2,SILENT,NM_033084.3:p.Thr393Thr/c.1179T>C,acT/acC,LOW,COSM4152592(1),,,rs72492998,,,,,,chr3,10088308,10088308,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr393Thr/c.1179T>C|1451|FANCD2|protein_coding|CODING|NM_001018115.1|15|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr393Thr/c.1179T>C|1471|FANCD2|protein_coding|CODING|NM_033084.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FANCD2,MISSENSE,NM_033084.3:p.Asn405Ser/c.1214A>G,aAt/aGt,MODERATE,COSM4152595(1),,,rs73126218,0.71(T),"0.023,0.023(B,B)",1.295(L),-0.9750(T),,chr3,10088343,10088343,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn405Ser/c.1214A>G|1451|FANCD2|protein_coding|CODING|NM_001018115.1|15|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn405Ser/c.1214A>G|1471|FANCD2|protein_coding|CODING|NM_033084.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.010688(N),1.000(N),"0.89,0.89,-0.33,0.89(T,T,T,T)",0.0000(T),0.031,0.930539,5.61,0.307,0.383000,0.099000,0.211000,0.898000,0.965000,0.530000,5.1152
synonymous_variant,FANCD2,SILENT,NM_033084.3:p.Tyr425Tyr/c.1275C>T,taC/taT,LOW,COSM1417229(4),,,,,,,,,chr3,10088404,10088404,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr425Tyr/c.1275C>T|1451|FANCD2|protein_coding|CODING|NM_001018115.1|15|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr425Tyr/c.1275C>T|1471|FANCD2|protein_coding|CODING|NM_033084.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FANCD2,SILENT,NM_033084.3:p.Thr467Thr/c.1401G>A,acG/acA,LOW,COSM4157098(1),,,rs12330369,,,,,,chr3,10089723,10089723,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr467Thr/c.1401G>A|1451|FANCD2|protein_coding|CODING|NM_001018115.1|16|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr467Thr/c.1401G>A|1471|FANCD2|protein_coding|CODING|NM_033084.3|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FANCD2,MISSENSE,NM_033084.3:p.Pro714Leu/c.2141C>T,cCg/cTg,MODERATE,,,,rs3864017,0.26(T),"0.001,0.0(B,B)",-0.345(N),-0.9737(T),,chr3,10106532,10106532,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro714Leu/c.2141C>T|1451|FANCD2|protein_coding|CODING|NM_001018115.1|23|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro714Leu/c.2141C>T|1471|FANCD2|protein_coding|CODING|NM_033084.3|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.494282(N),1.000(P),"0.88,0.88,0.88,0.88(T,T,T,T)",0.0000(T),0.245,-0.252037,5.65,-3.09,-1.383000,-0.507000,-0.181000,0.003000,0.000000,0.000000,2.4445
synonymous_variant,FANCD2,SILENT,NM_033084.3:p.Leu1366Leu/c.4098T>G,ctT/ctG,LOW,COSM3759565(1),0.242212,0.0675,rs2272125,,,,,,chr3,10138069,10138069,T,G,het,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu1366Leu/c.4098T>G|1451|FANCD2|protein_coding|CODING|NM_001018115.1|42|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu1366Leu/c.4098T>G|1471|FANCD2|protein_coding|CODING|NM_033084.3|42|1),intron_variant(MODIFIER|||c.*43+7813A>C|177|FANCD2OS|protein_coding|CODING|NM_173472.1|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1871,0.196,0.1412,0.27,0.47,0.16,,,,,,,,,,,,,,,,
missense_variant,IRAK2,MISSENSE,NM_001570.3:p.Leu392Val/c.1174C>G,Ctg/Gtg,MODERATE,COSM4002357(2),0.288139,0.1339,rs3844283,0.03(D),0.998(D),1.76(L),-0.9179(T),,chr3,10264480,10264480,C,G,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu392Val/c.1174C>G|625|IRAK2|protein_coding|CODING|NM_001570.3|9|1),"CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2904,0.464,0.4185,0.36,0.23,0.42,,0.001683(N),0.000(P),1.35(T),0.0000(T),0.167,3.812335,5.14,5.14,0.655000,2.369000,1.933000,0.825000,1.000000,1.000000,14.105
missense_variant,IRAK2,MISSENSE,NM_001570.3:p.Asp431Glu/c.1293T>A,gaT/gaA,MODERATE,COSM445233(2),0.827077,0.9901,rs708035,1(T),0.0(B),-1.83(N),-0.9845(T),,chr3,10276163,10276163,T,A,hom,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp431Glu/c.1293T>A|625|IRAK2|protein_coding|CODING|NM_001570.3|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9182,0.8098,0.6521,0.68,0.76,0.63,,0.000039(N),1.000(P),-0.1(T),0.0000(T),0.066,0.435215,5.49,-1.06,-0.257000,-0.558000,0.367000,0.893000,0.807000,0.999000,5.6441
synonymous_variant,TATDN2,SILENT,NM_014760.3:p.Ser213Ser/c.639C>T,agC/agT,LOW,,0.330671,0.62,rs2241313,,,,,,chr3,10302045,10302045,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser213Ser/c.639C>T|761|TATDN2|protein_coding|CODING|NM_014760.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4591,0.2291,0.1024,0.14,0.21,0.10,,,,,,,,,,,,,,,,
missense_variant,TATDN2,MISSENSE,NM_014760.3:p.His217Arg/c.650A>G,cAt/cGt,MODERATE,,0.361621,0.6528,rs2241314,0.85(T),0.001(B),-0.205(N),-0.9644(T),,chr3,10302056,10302056,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His217Arg/c.650A>G|761|TATDN2|protein_coding|CODING|NM_014760.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.2334,0.1024,0.15,0.25,0.10,,0.917220(N),1.000(P),"2.04,2.04(T,T)",0.0000(T),0.01,-0.071494,4.14,-6.61,-1.767000,-2.321000,-0.768000,0.230000,0.000000,0.000000,16.2242
missense_variant,TATDN2,MISSENSE,NM_014760.3:p.Val256Ile/c.766G>A,Gtc/Atc,MODERATE,,0.596246,0.9643,rs394558,0.75(T),0.006(B),1.61(L),-0.9457(T),,chr3,10302172,10302172,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val256Ile/c.766G>A|761|TATDN2|protein_coding|CODING|NM_014760.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8129,0.4207,0.4304,0.39,0.37,0.40,,0.382984(N),1.000(P),"1.81,1.81(T,T)",0.0000(T),0.052,-0.034032,4.81,0.786,-1.822000,0.055000,0.634000,0.001000,0.001000,0.002000,5.5043
missense_variant,TATDN2,MISSENSE,NM_014760.3:p.Pro358Leu/c.1073C>T,cCg/cTg,MODERATE,,0.179313,0.2768,rs2075352,0.14(T),0.006(B),1.61(L),-1.0703(T),,chr3,10311939,10311939,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro358Leu/c.1073C>T|761|TATDN2|protein_coding|CODING|NM_014760.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1155,0.0778,0.1044,0.15,0.25,0.10,,0.367281(N),0.876(P),"0.86,0.86(T,T)",0.0000(T),0.082,0.370799,4.73,4.73,0.644000,2.353000,0.912000,0.018000,0.936000,0.001000,10.8455
synonymous_variant,TATDN2,SILENT,NM_014760.3:p.Leu547Leu/c.1641A>G,ctA/ctG,LOW,,0.111821,0.2857,rs2075353,,,,,,chr3,10312507,10312507,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu547Leu/c.1641A>G|761|TATDN2|protein_coding|CODING|NM_014760.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1155,0.0576,0.1034,0.07,0.03,0.09,,,,,,,,,,,,,,,,
missense_variant,GHRL,MISSENSE,NM_016362.3:p.Leu72Met/c.214C>A,Ctg/Atg,MODERATE,,0.0832668,0.1915,rs696217,0.13(T),"0.962,0.984,0.999,0.999,0.996(D,D,D,D,D)",2.34(M),-1.0407(T),,chr3,10331457,10331457,G,T,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu71Met/c.211C>A|116|GHRL|protein_coding|CODING|NM_001134941.1|3|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu59Met/c.175C>A|104|GHRL|protein_coding|CODING|NM_001134945.1|2|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu60Met/c.178C>A|105|GHRL|protein_coding|CODING|NM_001134944.1|2|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu72Met/c.214C>A|117|GHRL|protein_coding|CODING|NM_016362.3|3|1),intron_variant(MODIFIER|||c.73-2961C>A|66|GHRL|protein_coding|CODING|NM_001134946.1|1|1),intron_variant(MODIFIER|||n.383+1671G>T||GHRLOS||NON_CODING|NR_004431.3|4|1),intron_variant(MODIFIER|||n.555+1671G>T||GHRLOS||NON_CODING|NR_024145.2|5|1),intron_variant(MODIFIER|||n.554+1671G>T||GHRLOS||NON_CODING|NR_073567.1|5|1),intron_variant(MODIFIER|||n.409+1671G>T||GHRLOS||NON_CODING|NR_073568.1|5|1),intron_variant(MODIFIER|||n.466+1671G>T||GHRLOS||NON_CODING|NR_024144.2|5|1),intron_variant(MODIFIER|||n.566+1667G>T||GHRLOS||NON_CODING|NR_073566.1|6|1),non_coding_exon_variant(MODIFIER|||n.1082C>A||GHRL||CODING|NR_024137.1|4|1),non_coding_exon_variant(MODIFIER|||n.621C>A||GHRL||CODING|NR_024138.1|4|1),non_coding_exon_variant(MODIFIER|||n.1085C>A||GHRL||CODING|NR_024132.1|4|1),non_coding_exon_variant(MODIFIER|||n.836C>A||GHRL||CODING|NR_024133.1|5|1),non_coding_exon_variant(MODIFIER|||n.624C>A||GHRL||CODING|NR_024134.1|4|1),non_coding_exon_variant(MODIFIER|||n.546C>A||GHRL||CODING|NR_024135.1|4|1),non_coding_exon_variant(MODIFIER|||n.349C>A||GHRL||CODING|NR_024136.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000005365.1|RCV000005366.1,,0.093,0.0476,0.0875,0.06,0.02,0.08,,0.067916(N),0.000(P),"1.38,1.38,1.38,1.38,0.15,1.38,1.38,1.38,1.38,1.38(T,T,T,T,T,T,T,T,T,T)",0.0007(T),0.323,2.304670,4.34,3.44,0.563000,2.261000,1.622000,0.398000,0.599000,0.991000,8.3778
synonymous_variant,ATP2B2,SILENT,NM_001001331.2:p.Gly517Gly/c.1551C>T,ggC/ggT,LOW,COSM3759575(1),0.140775,0.3234,rs2289273,,,,,,chr3,10413601,10413601,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly517Gly/c.1551C>T|1243|ATP2B2|protein_coding|CODING|NM_001001331.2|12|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly472Gly/c.1416C>T|1198|ATP2B2|protein_coding|CODING|NM_001683.3|9|1)","HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.2025,0.0447,0.1421,0.10,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,ATP2B2,SILENT,NM_001001331.2:p.Asn479Asn/c.1437C>T,aaC/aaT,LOW,COSM149337(3),0.276957,0.3323,rs2289274,,,,,,chr3,10413715,10413715,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn479Asn/c.1437C>T|1243|ATP2B2|protein_coding|CODING|NM_001001331.2|12|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn434Asn/c.1302C>T|1198|ATP2B2|protein_coding|CODING|NM_001683.3|9|1)","HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.3569,0.3256,0.3002,0.26,0.16,0.31,,,,,,,,,,,,,,,,
synonymous_variant,ATP2B2,SILENT,NM_001001331.2:p.Gln350Gln/c.1050A>G,caA/caG,LOW,COSM4157112(1),0.493211,0.6994,rs751122,,,,,,chr3,10420087,10420087,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln350Gln/c.1050A>G|1243|ATP2B2|protein_coding|CODING|NM_001001331.2|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln305Gln/c.915A>G|1198|ATP2B2|protein_coding|CODING|NM_001683.3|7|1)","GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6012,0.317,0.3708,0.36,0.39,0.34,,,,,,,,,,,,,,,,
synonymous_variant,ATG7,SILENT,NM_006395.2:p.Asp699Asp/c.2097T>C,gaT/gaC,LOW,COSM329155(2),0.254593,0.1389,rs8154,,,,,,chr3,11596302,11596302,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp672Asp/c.2016T>C|676|ATG7|protein_coding|CODING|NM_001136031.2|18|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp619Asp/c.1857T>C|623|ATG7|protein_coding|CODING|NM_001144912.1|17|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp699Asp/c.2097T>C|703|ATG7|protein_coding|CODING|NM_006395.2|19|1),downstream_gene_variant(MODIFIER||1239||296|VGLL4|protein_coding|CODING|NM_001128219.2||1),downstream_gene_variant(MODIFIER||1239||210|VGLL4|protein_coding|CODING|NM_001128220.2||1),downstream_gene_variant(MODIFIER||1239||206|VGLL4|protein_coding|CODING|NM_001128221.2||1),downstream_gene_variant(MODIFIER||1239||295|VGLL4|protein_coding|CODING|NM_001284390.1||1),downstream_gene_variant(MODIFIER||1239||231|VGLL4|protein_coding|CODING|NM_001284391.1||1),downstream_gene_variant(MODIFIER||1239||290|VGLL4|protein_coding|CODING|NM_014667.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.2277,0.3201,0.32,0.32,0.32,,,,,,,,,,,,,,,,
missense_variant,VGLL4,MISSENSE,NM_001128219.2:p.Ile38Met/c.114A>G,atA/atG,MODERATE,,0.929513,0.9444,rs2276749,1(T),"0.001,0.001(B,B)",,-0.9243(T),,chr3,11643465,11643465,T,C,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile38Met/c.114A>G|296|VGLL4|protein_coding|CODING|NM_001128219.2|2|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile37Met/c.111A>G|295|VGLL4|protein_coding|CODING|NM_001284390.1|4|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile32Met/c.96A>G|290|VGLL4|protein_coding|CODING|NM_014667.3|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||231|VGLL4|protein_coding|CODING|NM_001284391.1|2|1),5_prime_UTR_variant(MODIFIER||82|c.-82A>G|231|VGLL4|protein_coding|CODING|NM_001284391.1|2|1)","GM12878:H3K27ac,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM12878:ELF1,GM12878:Yy1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,GM12878:EBF,IMR90:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.8303,0.8862,0.9543,0.96,0.99,0.95,,0.000134(N),0.000(P),"1.01,1.01,1.01,1.01,1.01,1.01,1.01,1.01(T,T,T,T,T,T,T,T)",0.0000(T),0.202,0.662163,5.33,5.33,-0.119000,1.253000,4.566000,0.988000,1.000000,1.000000,14.2267
missense_variant,TAMM41,MISSENSE,NM_001284401.1:p.Asn116Ser/c.347A>G,aAc/aGc,MODERATE,COSM4002404(1),0.186302,0.2381,rs7641243,0.4(T),"0.023,0.001,0.001(B,B,B)",-0.345(N),-0.9466(T),,chr3,11880760,11880760,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn116Ser/c.347A>G|337|TAMM41|protein_coding|CODING|NM_001284401.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn116Ser/c.347A>G|316|TAMM41|protein_coding|CODING|NM_138807.3|3|1),non_coding_exon_variant(MODIFIER|||n.630A>G||TAMM41||CODING|NR_104314.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2618,0.1095,0.1153,0.13,0.17,0.11,,0.116225(N),1.000(P),"1.61,1.61,1.61(T,T,T)",0.0000(T),0.014,-0.045076,5.3,0.686,-1.064000,0.240000,2.998000,0.408000,0.000000,0.089000,6.8204
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Asn17Asn/c.51T>C,aaT/aaC,LOW,,1,1,rs2618395,,,,,,chr3,12046076,12046076,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn17Asn/c.51T>C|477|SYN2|protein_coding|CODING|NM_003178.5|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn17Asn/c.51T>C|581|SYN2|protein_coding|CODING|NM_133625.4|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","H1ESC:PolII,HUVEC:H3K27me3,H1ESC:TAF1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HMEC:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Gln33Gln/c.99A>G,caA/caG,LOW,,,,rs76272937,,,,,,chr3,12046124,12046124,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln33Gln/c.99A>G|477|SYN2|protein_coding|CODING|NM_003178.5|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|caA/caG|p.Gln33Gln/c.99A>G|581|SYN2|protein_coding|CODING|NM_133625.4|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,,,,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,SYN2,MISSENSE,NM_133625.4:p.Ala34Pro/c.100G>C,Gcg/Ccg,MODERATE,,,,rs74800608,,,,,,chr3,12046125,12046125,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala34Pro/c.100G>C|477|SYN2|protein_coding|CODING|NM_003178.5|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala34Pro/c.100G>C|581|SYN2|protein_coding|CODING|NM_133625.4|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,,,,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,SYN2,MISSENSE,NM_133625.4:p.Thr36Pro/c.106A>C,Acg/Ccg,MODERATE,,,,rs74213196,,,,,,chr3,12046131,12046131,A,C,hom,"missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr36Pro/c.106A>C|477|SYN2|protein_coding|CODING|NM_003178.5|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr36Pro/c.106A>C|581|SYN2|protein_coding|CODING|NM_133625.4|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Gly41Gly/c.123C>T,ggC/ggT,LOW,,1,1,rs2623874,,,,,,chr3,12046148,12046148,C,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly41Gly/c.123C>T|477|SYN2|protein_coding|CODING|NM_003178.5|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly41Gly/c.123C>T|581|SYN2|protein_coding|CODING|NM_133625.4|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
stop_lost,SYN2,MISSENSE,NM_133625.4:p.Ter48Serext*?/c.143A>C,tAg/tCg,HIGH,,,,rs2623875,,,,,,chr3,12046168,12046168,A,C,hom,"stop_lost(HIGH|MISSENSE|tAg/tCg|p.Ter48Serext*?/c.143A>C|477|SYN2|protein_coding|CODING|NM_003178.5|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),stop_lost(HIGH|MISSENSE|tAg/tCg|p.Ter48Serext*?/c.143A>C|581|SYN2|protein_coding|CODING|NM_133625.4|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Thr74Thr/c.222A>G,acA/acG,LOW,,,,rs71624922,,,,,,chr3,12046276,12046276,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr74Thr/c.222A>G|477|SYN2|protein_coding|CODING|NM_003178.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|acA/acG|p.Thr74Thr/c.222A>G|581|SYN2|protein_coding|CODING|NM_133625.4|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SYN2,MISSENSE,NM_133625.4:p.Leu81Phe/c.243A>C,ttA/ttC,MODERATE,,1,1,rs71624923,0(D),"0.0,0.0(B,B)",-1.04(N),-1.0733(T),,chr3,12046297,12046297,A,C,hom,"missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu81Phe/c.243A>C|477|SYN2|protein_coding|CODING|NM_003178.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu81Phe/c.243A>C|581|SYN2|protein_coding|CODING|NM_133625.4|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,1,1,,,,,0.000061(N),0.999(P),,0.0271(T),0.217,-0.378618,3.08,2.17,-0.371000,0.002000,1.810000,0.383000,0.996000,1.000000,4.2439
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Ala88Ala/c.264G>C,gcG/gcC,LOW,,1,1,rs2923854,,,,,,chr3,12046318,12046318,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala88Ala/c.264G>C|477|SYN2|protein_coding|CODING|NM_003178.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala88Ala/c.264G>C|581|SYN2|protein_coding|CODING|NM_133625.4|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Val89Val/c.267A>G,gtA/gtG,LOW,,1,1,rs2923855,,,,,,chr3,12046321,12046321,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val89Val/c.267A>G|477|SYN2|protein_coding|CODING|NM_003178.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val89Val/c.267A>G|581|SYN2|protein_coding|CODING|NM_133625.4|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,SYN2,MISSENSE,NM_133625.4:p.Gly103Ala/c.308G>C,gGt/gCt,MODERATE,,1,1,rs2923856,0(D),"0.0,0.0(B,B)",0(N),-1.0490(T),,chr3,12046362,12046362,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly103Ala/c.308G>C|477|SYN2|protein_coding|CODING|NM_003178.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly103Ala/c.308G>C|581|SYN2|protein_coding|CODING|NM_133625.4|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,1,1,,,,,,1.000(P),,0.0519(T),0.203,-2.300330,3.21,2.33,-1.460000,0.056000,0.364000,0.010000,0.477000,0.000000,5.7889
missense_variant,SYN2,MISSENSE,NM_133625.4:p.Ala104Pro/c.310G>C,Gcc/Ccc,MODERATE,,0.926318,0.9762,rs2923857,0(D),"0.0,0.0(B,B)",0(N),-1.0114(T),,chr3,12046364,12046364,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala104Pro/c.310G>C|477|SYN2|protein_coding|CODING|NM_003178.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala104Pro/c.310G>C|581|SYN2|protein_coding|CODING|NM_133625.4|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8978,0.9222,0.8509,,,,,,1.000(P),,0.0000(T),0.168,-1.126395,3.21,-0.271,-0.371000,0.027000,-0.424000,0.011000,0.430000,0.000000,8.6917
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Pro106Pro/c.318G>C,ccG/ccC,LOW,,1,1,rs2623877,,,,,,chr3,12046372,12046372,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro106Pro/c.318G>C|477|SYN2|protein_coding|CODING|NM_003178.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro106Pro/c.318G>C|581|SYN2|protein_coding|CODING|NM_133625.4|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,SYN2,MISSENSE,NM_133625.4:p.Thr505Ala/c.1513A>G,Acc/Gcc,MODERATE,,0.688898,0.6984,rs794999,0(D),0.002(B),0.895(L),-1.0308(T),,chr3,12229015,12229015,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr505Ala/c.1513A>G|581|SYN2|protein_coding|CODING|NM_133625.4|13|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),downstream_gene_variant(MODIFIER||1783||477|SYN2|protein_coding|CODING|NM_003178.5||1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","IMR90:H2BK120ac,IMR90:H3K9ac,IMR90:DNase1,NH-A:DNase1,IMR90:H3K4me1,NH-A:H3K27ac,GM12878:EBF,IMR90:H3K27ac,IMR90:H3K18ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.7689,0.7853,0.7594,0.71,0.59,0.76,,0.015322(N),0.999(P),,0.0000(T),0.139,0.267951,4.85,2.47,0.533000,0.878000,1.682000,0.996000,1.000000,1.000000,5.5914
synonymous_variant,SYN2,SILENT,NM_133625.4:p.Ala565Ala/c.1695A>G,gcA/gcG,LOW,,0.961062,1,rs310764,,,,,,chr3,12232074,12232074,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala565Ala/c.1695A>G|581|SYN2|protein_coding|CODING|NM_133625.4|14|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),"GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9468,0.9524,0.9115,0.93,0.98,0.90,,,,,,,,,,,,,,,,
missense_variant,PPARG,MISSENSE,NM_015869.4:p.Pro12Ala/c.34C>G,Cca/Gca,MODERATE,,0.0702875,0.0258,rs1801282,0.02(D),0.0(B),0.695(N),-0.7261(T),,chr3,12393125,12393125,C,G,het,"missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro12Ala/c.34C>G|505|PPARG|protein_coding|CODING|NM_015869.4|1|1),intron_variant(MODIFIER|||c.-2-28078C>G|477|PPARG|protein_coding|CODING|NM_005037.5|1|1),intron_variant(MODIFIER|||c.-2-28078C>G|477|PPARG|protein_coding|CODING|NM_138711.3|2|1),intron_variant(MODIFIER|||c.-2-28078C>G|477|PPARG|protein_coding|CODING|NM_138712.3|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HSMM:H3K27me3","Fasting_insulin_related_traits_interaction_with_BMI,Type_2_diabetes,Type_2_diabetes,Type_2_diabetes",RCV000118044.2,,0.1196,0.1167,0.1203,0.09,0.03,0.12,,0.540689(N),0.000(P),-2.99(D),0.0192(T),0.154,2.181534,6.02,2.93,0.655000,0.859000,0.376000,0.966000,1.000000,1.000000,5.3409
synonymous_variant,MKRN2,SILENT,NM_014160.4:p.His212His/c.636T>C,caT/caC,LOW,,0.547724,0.126,rs2648307,,,,,,chr3,12613866,12613866,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His169His/c.507T>C|373|MKRN2|protein_coding|CODING|NM_001271707.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His212His/c.636T>C|416|MKRN2|protein_coding|CODING|NM_014160.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2781,0.6585,0.6153,0.70,0.89,0.60,,,,,,,,,,,,,,,,
missense_variant,TMEM40,MISSENSE,NM_001284406.1:p.Pro12Arg/c.35C>G,cCg/cGg,MODERATE,,0.583666,0.3462,rs7641959,0.72(T),0.0(B),,-0.8529(T),,chr3,12810755,12810755,G,C,hom,missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro12Arg/c.35C>G|249|TMEM40|protein_coding|CODING|NM_001284406.1|1|1),"GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:E2F6",,,,0.3303,0.5159,0.6769,,,,,,1.000(P),,0.0000(T),0.015,-1.202196,0.0465,-0.093,-3.852000,-3.816000,-3.742000,0.004000,0.004000,0.004000,.
missense_variant,TMEM40,MISSENSE,NM_001284406.1:p.Glu3Lys/c.7G>A,Gag/Aag,MODERATE,,0.292532,0.1597,rs61606491,0(D),0.502(P),,-0.9086(T),,chr3,12810783,12810783,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu3Lys/c.7G>A|249|TMEM40|protein_coding|CODING|NM_001284406.1|1|1),"GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:E2F6",,,,0.1769,0.3401,0.5318,,,,,,1.000(P),,0.0000(T),0.133,1.274121,0.0465,0.0465,0.134000,0.132000,0.105000,0.058000,0.058000,0.050000,.
missense_variant,CAND2,MISSENSE,NM_001162499.1:p.Val77Ala/c.230T>C,gTc/gCc,MODERATE,COSM4002441(1),0.599441,0.2907,rs11718898,0.71(T),0.0(B),0(N),-0.9811(T),,chr3,12848822,12848822,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val77Ala/c.230T>C|1236|CAND2|protein_coding|CODING|NM_001162499.1|3|1),intron_variant(MODIFIER|||c.213-2736T>C|1119|CAND2|protein_coding|CODING|NM_012298.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:CTCF,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3701,0.5115,0.7008,0.74,0.93,0.66,,,0.000(P),-0.1(T),0.0000(T),0.042,2.345690,5.63,3.85,-0.936000,0.763000,5.661000,0.943000,1.000000,1.000000,5.7286
missense_variant,CAND2,MISSENSE,NM_001162499.1:p.Gln408Arg/c.1223A>G,cAg/cGg,MODERATE,,0.576478,0.2907,rs2305398,0.82(T),"0.0,0.0(B,B)",-1.545(N),-0.9745(T),,chr3,12856856,12856856,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln408Arg/c.1223A>G|1236|CAND2|protein_coding|CODING|NM_001162499.1|8|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln315Arg/c.944A>G|1119|CAND2|protein_coding|CODING|NM_012298.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3108,0.4986,0.6551,0.72,0.91,0.62,,0.026849(N),0.000(P),"-0.13,-0.13(T,T)",0.0000(T),0.014,-1.213618,4.86,3.85,-0.215000,1.046000,0.601000,0.098000,0.955000,0.994000,7.173
missense_variant,CAND2,MISSENSE,NM_001162499.1:p.Pro476Leu/c.1427C>T,cCt/cTt,MODERATE,COSM1418692(2),0.322883,0.1766,rs2305397,0.11(T),"0.009,0.147(B,B)",2.105(M),-0.9279(T),,chr3,12857493,12857493,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro476Leu/c.1427C>T|1236|CAND2|protein_coding|CODING|NM_001162499.1|9|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro383Leu/c.1148C>T|1119|CAND2|protein_coding|CODING|NM_012298.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.1912,0.366,0.5775,0.47,0.35,0.53,,0.000055(D),0.000(P),"2.79,2.79(T,T)",0.0000(T),0.204,1.841013,5.12,5.12,0.561000,2.395000,5.984000,0.346000,0.846000,1.000000,16.0847
missense_variant,CAND2,MISSENSE,NM_001162499.1:p.Ser533Pro/c.1597T>C,Tct/Cct,MODERATE,COSM445535(1),0.604034,0.4365,rs3732675,1(T),"0.0,0.0(B,B)",-1.025(N),-0.9471(T),,chr3,12858028,12858028,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser533Pro/c.1597T>C|1236|CAND2|protein_coding|CODING|NM_001162499.1|10|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser440Pro/c.1318T>C|1119|CAND2|protein_coding|CODING|NM_012298.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3569,0.4914,0.6243,0.69,0.89,0.59,,0.000667(N),0.000(P),"-0.06,-0.06(T,T)",0.0000(T),0.061,-0.478506,5.12,4.25,-0.215000,0.577000,1.701000,0.828000,1.000000,1.000000,7.3268
missense_variant,CAND2,MISSENSE,NM_001162499.1:p.His858Pro/c.2573A>C,cAc/cCc,MODERATE,COSM3759714(1),0.572284,0.2897,rs3732678,0.29(T),"0.0,0.0(B,B)",-0.805(N),-0.9924(T),,chr3,12859004,12859004,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His858Pro/c.2573A>C|1236|CAND2|protein_coding|CODING|NM_001162499.1|10|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His765Pro/c.2294A>C|1119|CAND2|protein_coding|CODING|NM_012298.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3252,0.4755,0.6382,0.70,0.91,0.60,,0.203605(N),0.000(P),"-0.11,-0.11(T,T)",0.0000(T),0.039,0.478073,4.83,3.88,-0.217000,1.150000,2.850000,0.980000,1.000000,0.991000,10.5248
missense_variant,NUP210,MISSENSE,NM_024923.3:p.Leu1752Ser/c.5255T>C,tTg/tCg,MODERATE,COSM4157282(1),0.890775,0.9871,rs354479,0.4(T),0.0(B),-0.975(N),-0.9829(T),,chr3,13361391,13361391,A,G,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu1752Ser/c.5255T>C|1887|NUP210|protein_coding|CODING|NM_024923.3|37|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8814,0.8501,0.7326,0.79,0.94,0.71,,0.002371(N),1.000(P),3.48(T),0.0000(T),0.094,0.201028,5.57,4.69,-0.186000,0.707000,3.922000,0.000000,0.117000,0.863000,11.5689
synonymous_variant,NUP210,SILENT,NM_024923.3:p.Cys1444Cys/c.4332C>T,tgC/tgT,LOW,COSM445628(2),0.396366,0.3016,rs2271509,,,,,,chr3,13368892,13368892,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1444Cys/c.4332C>T|1887|NUP210|protein_coding|CODING|NM_024923.3|32|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3272,0.3775,0.4891,0.50,0.47,0.51,,,,,,,,,,,,,,,,
synonymous_variant,NUP210,SILENT,NM_024923.3:p.Glu1163Glu/c.3489G>A,gaG/gaA,LOW,COSM4157285(1),0.511382,0.3333,rs3773302,,,,,,chr3,13379400,13379400,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1163Glu/c.3489G>A|1887|NUP210|protein_coding|CODING|NM_024923.3|26|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.4207,0.5239,0.61,0.75,0.54,,,,,,,,,,,,,,,,
synonymous_variant,NUP210,SILENT,NM_024923.3:p.Phe1016Phe/c.3048T>C,ttT/ttC,LOW,,0.576677,0.4008,rs2271504,,,,,,chr3,13383540,13383540,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1016Phe/c.3048T>C|1887|NUP210|protein_coding|CODING|NM_024923.3|22|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4427,0.4467,0.5457,0.66,0.84,0.56,,,,,,,,,,,,,,,,
missense_variant,NUP210,MISSENSE,NM_024923.3:p.Pro821Ala/c.2461C>G,Cct/Gct,MODERATE,COSM4005262(1),0.208466,0.2897,rs2280085,0.73(T),"0.058,0.039(B,B)",1.79(L),-0.9860(T),,chr3,13395475,13395475,G,C,hom,missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro821Ala/c.2461C>G|1887|NUP210|protein_coding|CODING|NM_024923.3|17|1),"H1ESC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1892,0.1729,0.165,0.18,0.21,0.17,,0.144138(N),1.000(P),0.78(T),0.0000(T),0.094,-1.499222,5.23,2.31,0.563000,0.247000,2.121000,0.072000,0.002000,0.400000,4.1682
missense_variant,NUP210,MISSENSE,NM_024923.3:p.Arg786Leu/c.2357G>T,cGg/cTg,MODERATE,COSM445629(1),0.57508,0.3998,rs2280084,0.4(T),"0.0,0.0(B,B)",-1.265(N),-1.0334(T),,chr3,13395579,13395579,C,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg786Leu/c.2357G>T|1887|NUP210|protein_coding|CODING|NM_024923.3|17|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4417,0.4452,0.5467,0.66,0.83,0.57,,0.036332(N),1.000(P),2.15(T),0.0000(T),0.039,-0.484919,5.53,4.25,-0.362000,0.938000,3.340000,0.162000,0.993000,0.380000,9.7463
missense_variant,NUP210,MISSENSE,NM_024923.3:p.Ile608Val/c.1822A>G,Atc/Gtc,MODERATE,,0.578674,0.4107,rs3732671,1(T),"0.001,0.0(B,B)",-0.915(N),-1.0083(T),,chr3,13407556,13407556,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile608Val/c.1822A>G|1887|NUP210|protein_coding|CODING|NM_024923.3|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4427,0.4467,0.5447,0.66,0.84,0.56,,0.000012(N),1.000(P),3.56(T),0.0000(T),0.101,-2.035635,5.04,3.17,-0.726000,0.134000,2.684000,0.002000,0.004000,0.985000,7.9524
missense_variant,NUP210,MISSENSE,NM_024923.3:p.Ala297Thr/c.889G>A,Gcc/Acc,MODERATE,,0.516973,0.3323,rs7628051,0.48(T),0.0(B),0.69(N),-1.0734(T),,chr3,13421150,13421150,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala297Thr/c.889G>A|1887|NUP210|protein_coding|CODING|NM_024923.3|7|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3548,0.4236,0.5239,0.62,0.76,0.54,,0.456838(N),1.000(P),3.45(T),0.0000(T),0.003,0.287518,5.15,2.96,0.655000,1.129000,0.152000,0.099000,0.090000,0.000000,8.5655
synonymous_variant,FBLN2,SILENT,NM_001004019.1:p.Thr882Thr/c.2646A>G,acA/acG,LOW,COSM4157303(1),0.677915,0.7629,rs2242023,,,,,,chr3,13670481,13670481,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr882Thr/c.2646A>G|1231|FBLN2|protein_coding|CODING|NM_001004019.1|12|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr882Thr/c.2646A>G|1231|FBLN2|protein_coding|CODING|NM_001165035.1|12|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr835Thr/c.2505A>G|1184|FBLN2|protein_coding|CODING|NM_001998.2|11|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6769,0.7896,0.6928,0.64,0.58,0.66,,,,,,,,,,,,,,,,
missense_variant,FBLN2,MISSENSE,NM_001004019.1:p.Thr901Ala/c.2701A>G,Acc/Gcc,MODERATE,COSM4157306(1),0.805312,0.9931,rs9843344,0.5(T),"0.004,0.007,0.011(B,B,B)",1.46(L),-0.9832(T),,chr3,13670536,13670536,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr901Ala/c.2701A>G|1231|FBLN2|protein_coding|CODING|NM_001004019.1|12|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr901Ala/c.2701A>G|1231|FBLN2|protein_coding|CODING|NM_001165035.1|12|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr854Ala/c.2560A>G|1184|FBLN2|protein_coding|CODING|NM_001998.2|11|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7699,0.8314,0.6938,0.70,0.75,0.67,,0.152921(N),1.000(P),"-3.05,-3.05,-2.24,-3.05(D,D,D,D)",0.0000(T),0.051,-0.260700,5.11,-4.23,-0.119000,-0.772000,0.056000,0.061000,0.001000,0.001000,5.4622
synonymous_variant,FBLN2,SILENT,NM_001004019.1:p.Phe942Phe/c.2826T>C,ttT/ttC,LOW,,0.800719,0.9931,rs4684968,,,,,,chr3,13670776,13670776,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe942Phe/c.2826T>C|1231|FBLN2|protein_coding|CODING|NM_001004019.1|13|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe942Phe/c.2826T>C|1231|FBLN2|protein_coding|CODING|NM_001165035.1|13|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe895Phe/c.2685T>C|1184|FBLN2|protein_coding|CODING|NM_001998.2|12|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7658,0.8285,0.6759,0.69,0.75,0.65,,,,,,,,,,,,,,,,
synonymous_variant,XPC,SILENT,NM_004628.4:p.Ala627Ala/c.1881T>A,gcT/gcA,LOW,,1,1,rs2958057,,,,,,chr3,14197987,14197987,A,T,hom,"synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala590Ala/c.1770T>A|903|XPC|protein_coding|CODING|NM_001145769.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala627Ala/c.1881T>A|940|XPC|protein_coding|CODING|NM_004628.4|10|1),non_coding_exon_variant(MODIFIER|||n.1861T>A||XPC||CODING|NR_027299.1|9|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,GRIP2,MISSENSE,NM_001080423.3:p.Val654Ala/c.1961T>C,gTt/gCt,MODERATE,,0.710064,0.7857,rs9845816,,,,,,chr3,14551444,14551444,A,G,hom,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val654Ala/c.1961T>C|1042|GRIP2|protein_coding|CODING|NM_001080423.3|17|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8763,0.6945,0.5706,0.60,0.64,0.58,,,,,,,,,,,,,,,,
missense_variant,GRIP2,MISSENSE,NM_001080423.3:p.His532Arg/c.1595A>G,cAc/cGc,MODERATE,,0.660743,0.7728,rs4685171,,,,,,chr3,14555216,14555216,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His532Arg/c.1595A>G|1042|GRIP2|protein_coding|CODING|NM_001080423.3|13|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7505,0.6715,0.5497,0.56,0.59,0.55,,,,,,,,,,,,,,,,
missense_variant,GRIP2,MISSENSE,NM_001080423.3:p.Val494Ala/c.1481T>C,gTc/gCc,MODERATE,,0.661741,0.7748,rs4613440,,,,,,chr3,14555811,14555811,A,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val494Ala/c.1481T>C|1042|GRIP2|protein_coding|CODING|NM_001080423.3|12|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7515,0.6715,0.5487,0.55,0.58,0.54,,,,,,,,,,,,,,,,
synonymous_variant,GRIP2,SILENT,NM_001080423.3:p.His208His/c.624C>T,caC/caT,LOW,,0.265575,0.2153,rs7645232,,,,,,chr3,14563237,14563237,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His208His/c.624C>T|1042|GRIP2|protein_coding|CODING|NM_001080423.3|7|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2464,0.1268,0.0984,0.23,0.45,0.12,,,,,,,,,,,,,,,,
synonymous_variant,GRIP2,SILENT,NM_001080423.3:p.Ser201Ser/c.603T>C,agT/agC,LOW,COSM445746(1),0.447484,0.5694,rs4234526,,,,,,chr3,14563258,14563258,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser201Ser/c.603T>C|1042|GRIP2|protein_coding|CODING|NM_001080423.3|7|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6258,0.5231,0.4006,0.34,0.22,0.41,,,,,,,,,,,,,,,,
missense_variant,GRIP2,MISSENSE,NM_001080423.3:p.Ala33Thr/c.97G>A,Gcg/Acg,MODERATE,,0.0305511,0.0437,rs17316876,,,,,,chr3,14567382,14567382,C,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala33Thr/c.97G>A|1042|GRIP2|protein_coding|CODING|NM_001080423.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0368,0.0173,0.0229,0.02,0.02,0.02,,,,,,,,,,,,,,,,
synonymous_variant,CCDC174,SILENT,NM_016474.4:p.Pro392Pro/c.1176G>A,ccG/ccA,LOW,COSM3759814(1),0.345447,0.2262,rs1901,,,,,,chr3,14712473,14712473,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro392Pro/c.1176G>A|467|CCDC174|protein_coding|CODING|NM_016474.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.228,0.4568,0.3499,0.38,0.46,0.34,,,,,,,,,,,,,,,,
missense_variant,C3orf20,MISSENSE,NM_032137.4:p.Gly42Asp/c.125G>A,gGc/gAc,MODERATE,,0.0597045,0.0823,rs17040154,0(D),0.999(D),1.1(L),-1.1134(T),,chr3,14724345,14724345,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly42Asp/c.125G>A|904|C3orf20|protein_coding|CODING|NM_032137.4|3|1),intron_variant(MODIFIER|||c.-105-137G>A|782|C3orf20|protein_coding|CODING|NM_001184957.1|2|1),intron_variant(MODIFIER|||c.-105-137G>A|782|C3orf20|protein_coding|CODING|NM_001184958.1|2|1)","HUVEC:H3K27me3,GM06990:H3K36me3",,,,0.0808,0.098,0.0676,0.04,0.01,0.06,,0.000170(D),0.000(P),1.81(T),0.0062(T),0.347,4.116651,5.28,5.28,0.591000,2.465000,5.001000,0.770000,1.000000,1.000000,15.8379
missense_variant,C3orf20,MISSENSE,NM_032137.4:p.Asp65Asn/c.193G>A,Gac/Aac,MODERATE,COSM3759815(2),0.297724,0.2252,rs9821143,0.19(T),0.034(B),0.895(L),-0.9287(T),,chr3,14724413,14724413,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp65Asn/c.193G>A|904|C3orf20|protein_coding|CODING|NM_032137.4|3|1),intron_variant(MODIFIER|||c.-105-69G>A|782|C3orf20|protein_coding|CODING|NM_001184957.1|2|1),intron_variant(MODIFIER|||c.-105-69G>A|782|C3orf20|protein_coding|CODING|NM_001184958.1|2|1)","HUVEC:H3K27me3,GM06990:H3K36me3",,,,0.2219,0.4438,0.3658,0.33,0.31,0.35,,0.771197(N),1.000(P),3.3(T),0.0000(T),0.015,1.118756,5.28,0.576,0.591000,0.166000,-0.301000,0.024000,0.003000,0.000000,1.4841
missense_variant,C3orf20,MISSENSE,NM_032137.4:p.Ala298Thr/c.892G>A,Gcc/Acc,MODERATE,,0.376997,0.3155,rs17040196,0.6(T),0.011(B),0.805(L),-0.9158(T),,chr3,14745857,14745857,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala176Thr/c.526G>A|782|C3orf20|protein_coding|CODING|NM_001184957.1|7|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala176Thr/c.526G>A|782|C3orf20|protein_coding|CODING|NM_001184958.1|7|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala298Thr/c.892G>A|904|C3orf20|protein_coding|CODING|NM_032137.4|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2802,0.4553,0.4175,0.43,0.43,0.43,,0.283896(N),1.000(P),"3.43,3.14,3.14(T,T,T)",0.0000(T),0.018,-0.923774,4.91,-3.04,-0.225000,-0.525000,-0.499000,0.001000,0.000000,0.002000,10.7852
missense_variant,C3orf20,MISSENSE,NM_032137.4:p.Ile407Val/c.1219A>G,Atc/Gtc,MODERATE,,0.378195,0.3244,rs6765537,0.36(T),0.225(B),2.08(M),-0.9167(T),,chr3,14755572,14755572,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile285Val/c.853A>G|782|C3orf20|protein_coding|CODING|NM_001184957.1|8|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile285Val/c.853A>G|782|C3orf20|protein_coding|CODING|NM_001184958.1|8|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile407Val/c.1219A>G|904|C3orf20|protein_coding|CODING|NM_032137.4|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2802,0.4524,0.4155,0.43,0.43,0.42,,0.002433(N),0.961(P),"2.74,2.74,2.74(T,T,T)",0.0000(T),0.063,3.123451,5.56,4.41,0.482000,0.942000,2.190000,0.726000,0.988000,0.962000,8.2326
missense_variant,C3orf20,MISSENSE,NM_032137.4:p.Leu422Val/c.1264C>G,Cta/Gta,MODERATE,,0.378994,0.3234,rs6790129,0.28(T),0.49(P),1.905(M),-0.9280(T),,chr3,14755617,14755617,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu300Val/c.898C>G|782|C3orf20|protein_coding|CODING|NM_001184957.1|8|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu300Val/c.898C>G|782|C3orf20|protein_coding|CODING|NM_001184958.1|8|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu422Val/c.1264C>G|904|C3orf20|protein_coding|CODING|NM_032137.4|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2802,0.4568,0.4175,0.43,0.43,0.43,,0.001330(N),0.922(P),"2.55,2.55,2.55(T,T,T)",0.0000(T),0.139,2.701572,5.56,1.57,0.591000,0.306000,-0.090000,0.746000,0.948000,0.773000,2.0532
synonymous_variant,FGD5,SILENT,NM_152536.3:p.Leu981Leu/c.2943G>T,ctG/ctT,LOW,COSM4157360(1),0.680511,0.5942,rs2164356,,,,-1.0070(T),,chr3,14939479,14939479,G,T,hom,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu981Leu/c.2943G>T|1462|FGD5|protein_coding|CODING|NM_152536.3|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6329,0.6859,0.7068,0.74,0.76,0.72,,,0.000(P),,0.0000(T),.,1.169378,5.0,1.83,0.591000,1.063000,0.915000,0.962000,1.000000,1.000000,2.9123
synonymous_variant,NR2C2,SILENT,NM_003298.4:p.Gln545Gln/c.1635G>A,caG/caA,LOW,,0.0503195,0,rs2230444,,,,,,chr3,15080696,15080696,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln526Gln/c.1578G>A|596|NR2C2|protein_coding|CODING|NM_001291694.1|13|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln545Gln/c.1635G>A|615|NR2C2|protein_coding|CODING|NM_003298.4|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0389,0.049,0.0885,0.09,0.06,0.10,,,,,,,,,,,,,,,,
synonymous_variant,CAPN7,SILENT,NM_014296.2:p.Ala439Ala/c.1317G>A,gcG/gcA,LOW,,0.0123802,0.001,rs35189473,,,,-0.9177(T),,chr3,15276562,15276562,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala439Ala/c.1317G>A|813|CAPN7|protein_coding|CODING|NM_014296.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0058,0.0159,0.01,0.00,0.02,,,1.000(D),,0.0882(T),.,1.322481,5.69,-4.67,-0.300000,-0.778000,-0.196000,0.987000,0.297000,0.243000,7.9527
synonymous_variant,SH3BP5,SILENT,NM_004844.4:p.Arg130Arg/c.390T>C,cgT/cgC,LOW,COSM4002492(2),0.509185,0.1895,rs1287467,,,,,,chr3,15311325,15311325,A,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg130Arg/c.390T>C|455|SH3BP5|protein_coding|CODING|NM_004844.4|4|1),5_prime_UTR_variant(MODIFIER||82|c.-82T>C|298|SH3BP5|protein_coding|CODING|NM_001018009.3|4|1)","HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,CD4:H2BK5ac,HeLa-S3:Jund,K562:H3K27ac,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,K562:Nfe2,GM12878:H3K27ac,K562:ATF3,HUVEC:PolII,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:Cjun,HMEC:H3K27ac,CD4:H4K20me1,K562:Cfos,HUVEC:Cjun,HeLa-S3:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Cmyc,K562:Junb,CD4:H2BK5me1,HUVEC:Cmyc,K562:E2F6,K562:Cjun,K562:FOSL1,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,K562:Egr1,NHEK:H3K36me3,HeLa-S3:Cfos,HUVEC:H3K4me1,HUVEC:H3K27ac,HMEC:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:DNase1,K562:E2F4,K562:Jund",,,,0.5256,0.4697,0.6889,0.66,0.61,0.69,,,,,,,,,,,,,,,,
missense_variant,SH3BP5,MISSENSE,NM_004844.4:p.Ala20Thr/c.58G>A,Gcc/Acc,MODERATE,COSM1197150(2),0.0329473,0,rs115738660,0(D),0.0(B),0.695(N),-1.0221(T),,chr3,15373858,15373858,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala20Thr/c.58G>A|455|SH3BP5|protein_coding|CODING|NM_004844.4|1|1),intron_variant(MODIFIER|||c.-401-1785G>A|298|SH3BP5|protein_coding|CODING|NM_001018009.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,K562:Znf263,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.09,0.0403,0.0368,0.02,0.01,0.03,,0.907977(N),0.892(N),,0.0078(T),0.108,1.575856,3.53,-1.01,0.455000,-0.018000,0.884000,0.077000,0.074000,0.013000,1.5963
synonymous_variant,HACL1,SILENT,NM_012260.3:p.Leu373Leu/c.1119G>A,ctG/ctA,LOW,COSM3759845(1),0.111022,0.1716,rs905650,,,,,,chr3,15610070,15610070,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu346Leu/c.1038G>A|551|HACL1|protein_coding|CODING|NM_001284413.1|12|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu313Leu/c.939G>A|518|HACL1|protein_coding|CODING|NM_001284415.1|11|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu291Leu/c.873G>A|496|HACL1|protein_coding|CODING|NM_001284416.1|10|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu373Leu/c.1119G>A|578|HACL1|protein_coding|CODING|NM_012260.3|13|1),non_coding_exon_variant(MODIFIER|||n.1329G>A||HACL1||CODING|NR_104315.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.0634,0.1213,0.11,0.09,0.12,,,,,,,,,,,,,,,,
missense_variant,BTD,MISSENSE,NM_001281723.1:p.Gly47Arg/c.139G>A,Ggg/Agg,MODERATE,,0.00379393,0,rs34885143,0.47(T),"0.001,0.001,0.001(B,B,B)",0(N),-0.3977(T),,chr3,15677019,15677019,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly45Arg/c.133G>A|543|BTD|protein_coding|CODING|NM_000060.3|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly47Arg/c.139G>A|545|BTD|protein_coding|CODING|NM_001281723.1|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly47Arg/c.139G>A|545|BTD|protein_coding|CODING|NM_001281724.1|4|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly25Arg/c.73G>A|523|BTD|protein_coding|CODING|NM_001281725.1|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly45Arg/c.133G>A|179|BTD|protein_coding|CODING|NM_001281726.1|2|1)","IMR90:H2BK120ac,HSMM:H3K27ac,GM12878:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:DNase1,IMR90:H2BK12ac,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,IMR90:H3K4me1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K27ac,HeLa-S3:H3K27ac,IMR90:H4K91ac,HepG2:H3K36me3,HUVEC:H3K4me1,IMR90:H3K18ac,HUVEC:H3K27ac,IMR90:H2BK20ac,IMR90:H4K8ac",,RCV000021888.1|RCV000021889.1|RCV000021890.1,,0.0031,0.0101,0.0089,0.01,0.00,0.02,,0.195232(N),1.000(N),"-3.61,-2.44,-2.43,-2.44,-2.17,-2.41(D,D,D,D,D,D)",0.4034(T),0.472,0.147339,4.72,-0.688,-0.266000,-0.525000,-0.037000,0.325000,0.000000,0.000000,4.9718
synonymous_variant,ANKRD28,SILENT,NM_015199.3:p.Asn507Asn/c.1521C>T,aaC/aaT,LOW,,0.469249,0.3522,rs2470548,,,,,,chr3,15737689,15737689,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn353Asn/c.1059C>T|899|ANKRD28|protein_coding|CODING|NM_001195098.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn353Asn/c.1059C>T|899|ANKRD28|protein_coding|CODING|NM_001195099.1|13|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn507Asn/c.1521C>T|1053|ANKRD28|protein_coding|CODING|NM_015199.3|15|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4836,0.6311,0.6034,0.54,0.42,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD28,SILENT,NM_015199.3:p.Gln504Gln/c.1512A>G,caA/caG,LOW,,0.412939,0.3522,rs2470549,,,,,,chr3,15737698,15737698,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln350Gln/c.1050A>G|899|ANKRD28|protein_coding|CODING|NM_001195098.1|15|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln350Gln/c.1050A>G|899|ANKRD28|protein_coding|CODING|NM_001195099.1|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln504Gln/c.1512A>G|1053|ANKRD28|protein_coding|CODING|NM_015199.3|15|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4826,0.6066,0.6014,0.47,0.22,0.59,,,,,,,,,,,,,,,,
synonymous_variant,GALNT15,SILENT,NM_054110.4:p.Gly270Gly/c.810G>A,ggG/ggA,LOW,,0.0930511,0.002,rs7638396,,,,,,chr3,16242229,16242229,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly270Gly/c.810G>A|639|GALNT15|protein_coding|CODING|NM_054110.4|3|1),"GM12878:H3K36me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.044,0.1138,0.0427,0.10,0.19,0.05,,,,,,,,,,,,,,,,
missense_variant,GALNT15,MISSENSE,NM_054110.4:p.Ala432Thr/c.1294G>A,Gcc/Acc,MODERATE,COSM1420344(1),0.153355,0.002,rs17851238,0.21(T),0.154(B),0.745(N),-1.0207(T),,chr3,16254172,16254172,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala432Thr/c.1294G>A|639|GALNT15|protein_coding|CODING|NM_054110.4|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0941,0.1599,0.1133,0.18,0.29,0.12,,0.934923(N),0.730(P),"0.28,0.28(T,T)",0.0000(T),0.29,1.838866,5.38,4.47,0.561000,2.524000,2.581000,0.141000,0.956000,1.000000,15.5033
synonymous_variant,DPH3,SILENT,NM_206831.2:p.Val57Val/c.171G>C,gtG/gtC,LOW,COSM1179801(2),0.433706,0.4762,rs14080,,,,,,chr3,16305674,16305674,C,G,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val57Val/c.171G>C|82|DPH3|protein_coding|CODING|NM_206831.2|2|1),upstream_gene_variant(MODIFIER||993||312|OXNAD1|protein_coding|CODING|NM_138381.3||1),intron_variant(MODIFIER|||c.108+602G>C|57|DPH3|protein_coding|CODING|NM_001047434.2|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K4me3,CD4:H2BK12ac",,,,0.5348,0.4712,0.4324,0.40,0.35,0.42,,,,,,,,,,,,,,,,
synonymous_variant,OXNAD1,SILENT,NM_138381.3:p.His35His/c.105C>T,caC/caT,LOW,COSM1566608(3),0.420727,0.4752,rs386617034,,,,,,chr3,16312564,16312564,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His35His/c.105C>T|312|OXNAD1|protein_coding|CODING|NM_138381.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5358,0.4654,0.4324,0.39,0.31,0.42,,,,,,,,,,,,,,,,
missense_variant,OXNAD1,MISSENSE,NM_138381.3:p.Ser64Ala/c.190T>G,Tca/Gca,MODERATE,COSM3759855(2),0.433107,0.4762,rs842274,0.43(T),"0.006,0.001(B,B)",0.895(L),-0.9115(T),,chr3,16327855,16327855,T,G,hom,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser64Ala/c.190T>G|312|OXNAD1|protein_coding|CODING|NM_138381.3|5|1),"H1ESC:H3K36me3,CD4:H2BK5ac,CD4:DNase1,HUVEC:H3K36me3,K562:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,CD4:H3K9ac",,,,0.5337,0.4712,0.4334,0.40,0.35,0.42,,0.000405(N),0.646(P),"2.29,1.96,2.28(T,T,T)",0.0000(T),0.256,2.248105,5.26,2.89,0.533000,0.317000,1.867000,0.827000,0.602000,1.000000,6.6934
missense_variant,PLCL2,MISSENSE,NM_001144382.1:p.Asp3Glu/c.9T>G,gaT/gaG,MODERATE,,,,rs368284573,1(T),,,-0.9752(T),,chr3,16926544,16926544,T,G,hom,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp3Glu/c.9T>G|1123|PLCL2|protein_coding|CODING|NM_001144382.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,GM12878:ELF1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,K562:ELF1,GM12878:PolII,CD4:PolII,HepG2:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,K562:DNase1",,,,,,,,,,,,0.000(P),,0.0370(T),0.11,1.622425,3.5,1.42,-0.383000,0.464000,0.205000,0.707000,0.996000,0.997000,6.2368
synonymous_variant,PLCL2,SILENT,NM_001144382.1:p.Arg6Arg/c.18T>C,cgT/cgC,LOW,,1,1,rs373958057,0.71(T),,,-1.0064(T),,chr3,16926567,16926567,T,C,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg6Arg/c.18T>C|1123|PLCL2|protein_coding|CODING|NM_001144382.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K4me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,K562:ELF1,GM12878:PolII,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:DNase1",,,,1,1,1,,,,,,0.000(P),,0.0467(T),0.116,1.943408,3.01,2.04,-0.374000,0.467000,0.642000,0.934000,0.985000,0.998000,3.8834
missense_variant,PLCL2,MISSENSE,NM_001144382.1:p.Val17Gly/c.50T>G,gTc/gGc,MODERATE,,1,1,rs7626446,1(T),,,-0.9960(T),,chr3,16926599,16926599,T,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val17Gly/c.50T>G|1123|PLCL2|protein_coding|CODING|NM_001144382.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K4me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,0.000(P),,0.0444(T),0.286,2.539233,3.54,3.54,-0.371000,0.468000,2.138000,0.988000,0.999000,1.000000,8.2294
missense_variant,PLCL2,MISSENSE,NM_001144382.1:p.Cys20Arg/c.58T>C,Tgc/Cgc,MODERATE,,,,rs7626448,,,,,,chr3,16926607,16926607,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys20Arg/c.58T>C|1123|PLCL2|protein_coding|CODING|NM_001144382.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K4me3,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLCL2,SILENT,NM_001144382.1:p.Arg31Arg/c.93A>G,agA/agG,LOW,,1,1,rs6442655,1(T),,,-0.9824(T),,chr3,16926642,16926642,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg31Arg/c.93A>G|1123|PLCL2|protein_coding|CODING|NM_001144382.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K4me3,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,0.000(P),,0.0374(T),0.134,1.359948,3.88,2.98,-0.374000,0.142000,1.480000,0.425000,0.861000,1.000000,5.0042
missense_variant,PLCL2,MISSENSE,NM_001144382.1:p.Cys33Trp/c.99T>G,tgT/tgG,MODERATE,,1,1,rs6442656,1(T),,,-0.9791(T),,chr3,16926648,16926648,T,G,hom,missense_variant(MODERATE|MISSENSE|tgT/tgG|p.Cys33Trp/c.99T>G|1123|PLCL2|protein_coding|CODING|NM_001144382.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K4me3,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,0.001(P),,0.0532(T),0.256,1.533615,3.88,2.95,-0.371000,0.120000,1.614000,0.540000,0.449000,0.829000,8.5193
synonymous_variant,PLCL2,SILENT,NM_001144382.1:p.Arg39Arg/c.117T>G,cgT/cgG,LOW,,1,1,rs7626542,0.72(T),,,-0.9562(T),,chr3,16926666,16926666,T,G,hom,synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg39Arg/c.117T>G|1123|PLCL2|protein_coding|CODING|NM_001144382.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K4me3,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,CD4:PolII,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,0.000(P),,0.0000(T),0.279,2.238396,3.36,1.35,-0.371000,-0.185000,1.020000,0.951000,0.991000,0.970000,8.7378
missense_variant,PLCL2,MISSENSE,NM_001144382.1:p.Phe160Ser/c.479T>C,tTt/tCt,MODERATE,,0.452875,0.5466,rs386612265,,,,,,chr3,17051328,17051328,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe160Ser/c.479T>C|1123|PLCL2|protein_coding|CODING|NM_001144382.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu38Leu/c.112T>C|1001|PLCL2|protein_coding|CODING|NM_015184.5|2|1)","GM12878:H3K36me3,K562:H3K27me3,GM06990:H3K36me3",,,,0.5348,0.2911,0.3211,0.37,0.48,0.32,,,,,,,,,,,,,,,,
missense_variant,PLCL2,MISSENSE,NM_001144382.1:p.Arg718Trp/c.2152C>T,Cgg/Tgg,MODERATE,COSM1642175(1),0.0169728,0,rs61751587,,,,-0.6831(T),,chr3,17053001,17053001,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg718Trp/c.2152C>T|1123|PLCL2|protein_coding|CODING|NM_001144382.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn595Asn/c.1785C>T|1001|PLCL2|protein_coding|CODING|NM_015184.5|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,GM06990:H3K36me3",,,,0.0521,0.0101,0.0258,0.02,0.01,0.03,,,1.000(D),,0.1042(T),.,-0.218430,4.95,-6.34,-0.378000,-1.273000,-0.113000,0.986000,0.698000,0.757000,15.4376
missense_variant,PLCL2,MISSENSE,NM_001144382.1:p.Lys884Glu/c.2650A>G,Aaa/Gaa,MODERATE,COSM4002515(1),0.622204,0.626,rs4602367,,,,-0.9415(T),,chr3,17053499,17053499,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys884Glu/c.2650A>G|1123|PLCL2|protein_coding|CODING|NM_001144382.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly761Gly/c.2283A>G|1001|PLCL2|protein_coding|CODING|NM_015184.5|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.6677,0.5821,0.5338,0.56,0.63,0.53,,,0.000(P),,0.0000(T),.,1.094255,5.74,3.92,-0.320000,0.352000,0.418000,0.967000,1.000000,0.997000,7.7303
missense_variant,SATB1,MISSENSE,NM_001195470.1:p.Gly621Ser/c.1861G>A,Ggt/Agt,MODERATE,,0.0447284,0.002,rs116044839,0.79(T),0.02(B),,-0.9817(T),,chr3,18392819,18392819,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly621Ser/c.1861G>A|795|SATB1|protein_coding|CODING|NM_001195470.1|11|1),intron_variant(MODIFIER|||c.1779+665G>A|763|SATB1|protein_coding|CODING|NM_001131010.2|10|1),intron_variant(MODIFIER|||c.1779+665G>A|763|SATB1|protein_coding|CODING|NM_002971.4|10|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0818,0.0317,0.1113,,,,,0.048077(N),0.000(P),1.93(T),0.0004(T),0.094,2.333025,5.59,1.75,0.561000,0.039000,-0.076000,0.997000,0.943000,0.817000,6.3723
synonymous_variant,SATB1,SILENT,NM_001195470.1:p.Pro462Pro/c.1386C>A,ccC/ccA,LOW,COSM3759907(1),0.689097,0.9226,rs2229261,,,,,,chr3,18427924,18427924,G,T,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro462Pro/c.1386C>A|763|SATB1|protein_coding|CODING|NM_001131010.2|8|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro462Pro/c.1386C>A|795|SATB1|protein_coding|CODING|NM_001195470.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro462Pro/c.1386C>A|763|SATB1|protein_coding|CODING|NM_002971.4|8|1)",,,,,0.6871,0.7291,0.5716,0.58,0.58,0.58,,,,,,,,,,,,,,,,
missense_variant,KCNH8,MISSENSE,NM_144633.2:p.Gln893Arg/c.2678A>G,cAg/cGg,MODERATE,,0.0866613,0.0764,rs33915638,,0.002(B),1.245(L),-0.1136(T),,chr3,19574945,19574945,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln893Arg/c.2678A>G|1107|KCNH8|protein_coding|CODING|NM_144633.2|16|1),,,,,0.1227,0.0821,0.0865,0.09,0.08,0.10,,0.127194(U),1.000(D),-5.04(D),0.2070(T),0.05,1.766371,5.68,5.68,0.533000,2.159000,3.043000,0.965000,0.972000,0.990000,15.9265
missense_variant,EFHB,MISSENSE,NM_144715.3:p.Thr382Ile/c.1145C>T,aCc/aTc,MODERATE,,0.613019,0.3353,rs2929366,,"0.001,0.0(B,B)",-0.14(N),-1.0131(T),,chr3,19959756,19959756,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr382Ile/c.1145C>T|833|EFHB|protein_coding|CODING|NM_144715.3|4|1),,,,,0.6237,0.5403,0.6491,0.71,0.80,0.67,,0.819588(N),1.000(P),"1.9,1.89,2.22,1.48(T,T,T,T)",0.0000(T),0.202,-0.063261,5.68,1.58,-0.361000,0.058000,-0.100000,0.613000,0.199000,0.000000,0.5824
missense_variant,EFHB,MISSENSE,NM_144715.3:p.Val331Ile/c.991G>A,Gta/Ata,MODERATE,,0.672524,0.3353,rs2931403,,"0.003,0.0(B,B)",-1.465(N),-0.9752(T),,chr3,19961330,19961330,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val331Ile/c.991G>A|833|EFHB|protein_coding|CODING|NM_144715.3|3|1),,,,,0.6738,0.6153,0.7753,0.78,0.83,0.76,,0.146503(N),1.000(P),"1.99,2.01,2.26,1.55(T,T,T,T)",0.0000(T),0.125,-0.753050,5.14,-6.78,-1.546000,-1.412000,-0.920000,0.054000,0.002000,0.000000,0.8041
synonymous_variant,EFHB,SILENT,NM_144715.3:p.Ser330Ser/c.990A>G,tcA/tcG,LOW,COSM3760023(1),0.196286,0.1081,rs2929362,,,,,,chr3,19961331,19961331,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser330Ser/c.990A>G|833|EFHB|protein_coding|CODING|NM_144715.3|3|1),,,,,0.2301,0.1153,0.1481,0.00,0.01,0.00,,,,,,,,,,,,,,,,
synonymous_variant,RAB5A,SILENT,NM_004162.4:p.Thr14Thr/c.42G>T,acG/acT,LOW,,0.615615,0.3155,rs6773437,,,,,,chr3,19992432,19992432,G,T,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr14Thr/c.42G>T|201|RAB5A|protein_coding|CODING|NM_001292048.1|2|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr14Thr/c.42G>T|215|RAB5A|protein_coding|CODING|NM_004162.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.6153,0.7316,0.76,0.75,0.76,,,,,,,,,,,,,,,,
missense_variant,PP2D1,MISSENSE,NM_001252657.1:p.Ala260Thr/c.778G>A,Gca/Aca,MODERATE,,0.292332,0.2192,rs4103004,0.89(T),0.0(B),,-0.9165(T),,chr3,20042834,20042834,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala260Thr/c.778G>A|630|PP2D1|protein_coding|CODING|NM_001252657.1|2|1),non_coding_exon_variant(MODIFIER|||n.979G>A||PP2D1||CODING|NR_027694.1|2|1)",,,,,0.2679,0.281,0.3559,,,,,0.100212(N),1.000(P),2.27(T),0.0000(T),0.051,1.605477,5.54,4.39,-1.120000,0.413000,1.406000,0.017000,0.298000,0.934000,6.136
missense_variant,PP2D1,MISSENSE,NM_001252657.1:p.Arg37His/c.110G>A,cGt/cAt,MODERATE,,0.0908546,0,rs9882323,0.36(T),0.001(B),,-1.0287(T),,chr3,20043502,20043502,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg37His/c.110G>A|630|PP2D1|protein_coding|CODING|NM_001252657.1|2|1),non_coding_exon_variant(MODIFIER|||n.311G>A||PP2D1||CODING|NR_027694.1|2|1)",,,,,0.0481,0.1124,0.1889,,,,,0.014720(N),1.000(P),2.06(T),0.0000(T),0.078,0.611232,4.55,-9.1,0.484000,-1.465000,-3.159000,0.031000,0.000000,0.000000,1.4205
synonymous_variant,PP2D1,SILENT,NM_001252657.1:p.Glu27Glu/c.81G>A,gaG/gaA,LOW,,0.0938498,0,rs9882344,,,,,,chr3,20043531,20043531,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu27Glu/c.81G>A|630|PP2D1|protein_coding|CODING|NM_001252657.1|2|1),non_coding_exon_variant(MODIFIER|||n.282G>A||PP2D1||CODING|NR_027694.1|2|1)",,,,,0.0481,0.1138,0.1889,,,,,,,,,,,,,,,,,,,
synonymous_variant,KAT2B,SILENT,NM_003884.4:p.Glu103Glu/c.309G>A,gaG/gaA,LOW,COSM1753137(2),0.466454,0.4137,rs3021408,,,,,,chr3,20113830,20113830,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu103Glu/c.309G>A|832|KAT2B|protein_coding|CODING|NM_003884.4|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.5245,0.4481,0.4006,0.41,0.49,0.37,,,,,,,,,,,,,,,,
synonymous_variant,SGOL1,SILENT,NM_001012410.3:p.Thr168Thr/c.504A>T,acA/acT,LOW,COSM3760032(2),0.265775,0.4167,rs61729306,,,,,,chr3,20216519,20216519,T,A,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|527|SGOL1|protein_coding|CODING|NM_001012409.2|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|561|SGOL1|protein_coding|CODING|NM_001012410.3|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|527|SGOL1|protein_coding|CODING|NM_001199251.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|561|SGOL1|protein_coding|CODING|NM_001199252.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|275|SGOL1|protein_coding|CODING|NM_001012411.2|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|309|SGOL1|protein_coding|CODING|NM_001012412.3|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|275|SGOL1|protein_coding|CODING|NM_001199253.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|309|SGOL1|protein_coding|CODING|NM_001199254.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr168Thr/c.504A>T|215|SGOL1|protein_coding|CODING|NM_001199257.1|6|1),intron_variant(MODIFIER|||c.475+1574A>T|258|SGOL1|protein_coding|CODING|NM_001012413.2|5|1),intron_variant(MODIFIER|||c.475+1574A>T|258|SGOL1|protein_coding|CODING|NM_001199255.1|5|1),intron_variant(MODIFIER|||c.475+1574A>T|292|SGOL1|protein_coding|CODING|NM_001199256.1|5|1),intron_variant(MODIFIER|||c.475+1574A>T|292|SGOL1|protein_coding|CODING|NM_138484.3|5|1),intron_variant(MODIFIER|||n.366+209T>A||SGOL1-AS1||NON_CODING|NR_046723.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3292,0.2882,0.165,0.16,0.17,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ZNF385D,SILENT,NM_024697.2:p.Pro380Pro/c.1140T>C,ccT/ccC,LOW,,0.801118,0.8988,rs451242,,,,,,chr3,21462754,21462754,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro380Pro/c.1140T>C|395|ZNF385D|protein_coding|CODING|NM_024697.2|8|1),,,,,0.8252,0.8098,0.7584,0.76,0.76,0.76,,,,,,,,,,,,,,,,
synonymous_variant,ZNF385D,SILENT,NM_024697.2:p.Ser369Ser/c.1107C>T,tcC/tcT,LOW,,0.915735,0.999,rs427233,,,,,,chr3,21462787,21462787,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser369Ser/c.1107C>T|395|ZNF385D|protein_coding|CODING|NM_024697.2|8|1),,,,,0.8313,0.9352,0.8141,0.87,0.95,0.83,,,,,,,,,,,,,,,,
synonymous_variant,UBE2E1,SILENT,NM_003341.4:p.Gly73Gly/c.219C>T,ggC/ggT,LOW,,0.00459265,0,rs115996277,,,,,,chr3,23929073,23929073,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly40Gly/c.120C>T|160|UBE2E1|protein_coding|CODING|NM_001202476.1|3|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly73Gly/c.219C>T|193|UBE2E1|protein_coding|CODING|NM_003341.4|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly56Gly/c.168C>T|176|UBE2E1|protein_coding|CODING|NM_182666.2|3|1)","GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0072,0.0159,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,NR1D2,MISSENSE,NM_005126.4:p.Leu386Met/c.1156T>A,Ttg/Atg,MODERATE,,1,1,rs4858097,1(T),0.01(B),-0.29(N),-0.9213(T),,chr3,24006477,24006477,T,A,hom,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu311Met/c.931T>A|504|NR1D2|protein_coding|CODING|NM_001145425.1|6|1),missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu386Met/c.1156T>A|579|NR1D2|protein_coding|CODING|NM_005126.4|6|1),non_coding_exon_variant(MODIFIER|||n.1582T>A||NR1D2||CODING|NR_110524.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,1,1,,,,,0.000000(N),1.000(P),-3.69(D),0.0000(T),0.266,0.165419,5.78,5.78,-0.257000,1.122000,6.020000,0.883000,1.000000,1.000000,12.6938
synonymous_variant,NEK10,SILENT,NM_199347.2:p.Thr687Thr/c.2061C>G,acC/acG,LOW,COSM1179803(1),0.592452,0.2292,rs3213930,,,,-1.0959(T),,chr3,27297816,27297816,G,C,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr687Thr/c.2061C>G|712|NEK10|protein_coding|CODING|NM_199347.2|24|1),,,,,0.4928,0.6138,0.5388,0.66,0.90,0.54,,,0.000(P),,0.0000(T),.,0.805083,4.96,-6.92,-1.295000,-2.119000,-1.914000,0.971000,0.642000,0.017000,10.3913
synonymous_variant,NEK10,SILENT,NM_199347.2:p.Gly558Gly/c.1674A>G,ggA/ggG,LOW,,0.389776,0.1776,rs674303,,,,-1.0421(T),,chr3,27332177,27332177,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly558Gly/c.1674A>G|712|NEK10|protein_coding|CODING|NM_199347.2|20|1),HMEC:H3K36me3,,,,0.2076,0.2608,0.2634,0.41,0.73,0.27,,,0.000(P),,0.0000(T),.,1.209279,5.45,1.59,0.533000,0.090000,0.201000,0.995000,1.000000,0.997000,2.1593
synonymous_variant,SLC4A7,SILENT,NM_003615.4:p.Asp1163Asp/c.3489T>C,gaT/gaC,LOW,,0.927716,1,rs1472256,,,,,,chr3,27424718,27424718,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1044Asp/c.3132T>C|1131|SLC4A7|protein_coding|CODING|NM_001258379.1|23|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1039Asp/c.3117T>C|1090|SLC4A7|protein_coding|CODING|NM_001258380.1|23|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1163Asp/c.3489T>C|1214|SLC4A7|protein_coding|CODING|NM_003615.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9315,0.9395,0.9344,0.92,0.87,0.94,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A7,SILENT,NM_003615.4:p.Asn773Asn/c.2319C>T,aaC/aaT,LOW,,0.128195,0.0565,rs3736312,,,,,,chr3,27442336,27442336,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn654Asn/c.1962C>T|1131|SLC4A7|protein_coding|CODING|NM_001258379.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn649Asn/c.1947C>T|1090|SLC4A7|protein_coding|CODING|NM_001258380.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn773Asn/c.2319C>T|1214|SLC4A7|protein_coding|CODING|NM_003615.4|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1922,0.1614,0.2247,0.19,0.08,0.25,,,,,,,,,,,,,,,,
missense_variant,SLC4A7,MISSENSE,NM_003615.4:p.Glu326Lys/c.976G>A,Gag/Aag,MODERATE,,0.129193,0.0565,rs3755652,0.87(T),"0.037,0.037,0.037,0.037,0.025(B,B,B,B,B)",0.145(N),-1.1023(T),,chr3,27472936,27472936,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu326Lys/c.976G>A|1214|SLC4A7|protein_coding|CODING|NM_003615.4|7|1),intron_variant(MODIFIER|||c.766+2471G>A|1131|SLC4A7|protein_coding|CODING|NM_001258379.1|6|1),intron_variant(MODIFIER|||c.751+2471G>A|1090|SLC4A7|protein_coding|CODING|NM_001258380.1|6|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.1912,0.1643,0.2266,0.19,0.08,0.25,,0.015915(N),0.000(P),"-1.01,-1.02,-1.1,-1.1,-1.1,0.42(T,T,T,T,T,T)",0.0001(T),0.147,0.151530,5.98,5.12,-0.191000,1.560000,2.454000,0.844000,0.793000,0.996000,15.793
synonymous_variant,SLC4A7,SILENT,NM_003615.4:p.Leu282Leu/c.846T>C,ctT/ctC,LOW,COSM4005523(1),0.164337,0.0575,rs13077400,,,,,,chr3,27473066,27473066,A,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu282Leu/c.846T>C|1214|SLC4A7|protein_coding|CODING|NM_003615.4|7|1),intron_variant(MODIFIER|||c.766+2341T>C|1131|SLC4A7|protein_coding|CODING|NM_001258379.1|6|1),intron_variant(MODIFIER|||c.751+2341T>C|1090|SLC4A7|protein_coding|CODING|NM_001258380.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1922,0.1772,0.2276,0.23,0.19,0.25,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A7,SILENT,NM_003615.4:p.Arg70Arg/c.210A>G,agA/agG,LOW,,0.120807,0.0565,rs13096477,,,,,,chr3,27490194,27490194,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg75Arg/c.225A>G|1131|SLC4A7|protein_coding|CODING|NM_001258379.1|3|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg70Arg/c.210A>G|1090|SLC4A7|protein_coding|CODING|NM_001258380.1|3|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg70Arg/c.210A>G|1214|SLC4A7|protein_coding|CODING|NM_003615.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1892,0.1527,0.2107,0.18,0.07,0.23,,,,,,,,,,,,,,,,
missense_variant,ZCWPW2,MISSENSE,NM_001040432.1:p.Leu202Gln/c.605T>A,cTa/cAa,MODERATE,,0.454673,0.6171,rs1563656,0.62(T),0.0(B),-0.805(N),-0.9601(T),,chr3,28520417,28520417,T,A,hom,missense_variant(MODERATE|MISSENSE|cTa/cAa|p.Leu202Gln/c.605T>A|356|ZCWPW2|protein_coding|CODING|NM_001040432.1|4|1),,,,,0.4826,0.4654,0.4304,0.40,0.35,0.43,,,1.000(P),"1.41,1.41(T,T)",0.0000(T),0.332,-1.524785,0.225,0.225,-0.868000,-0.843000,-0.562000,0.092000,0.004000,0.002000,.
synonymous_variant,ZCWPW2,SILENT,NM_001040432.1:p.Lys217Lys/c.651G>A,aaG/aaA,LOW,COSM3760036(2),0.25599,0.4653,rs13100556,,,,-0.9007(T),,chr3,28533658,28533658,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys217Lys/c.651G>A|356|ZCWPW2|protein_coding|CODING|NM_001040432.1|5|1),,,,,0.3763,0.2291,0.161,0.14,0.10,0.16,,,0.000(P),,0.0000(T),.,-0.708672,4.72,3.84,0.650000,1.108000,1.240000,0.216000,1.000000,1.000000,8.7367
synonymous_variant,OSBPL10,SILENT,NM_017784.4:p.Pro603Pro/c.1809G>A,ccG/ccA,LOW,COSM3760043(2),0.565495,0.6756,rs3749405,,,,-1.0160(T),,chr3,31712393,31712393,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro539Pro/c.1617G>A|700|OSBPL10|protein_coding|CODING|NM_001174060.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro603Pro/c.1809G>A|764|OSBPL10|protein_coding|CODING|NM_017784.4|9|1)","H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3701,0.4107,0.3728,0.49,0.76,0.36,,,0.000(P),,0.0000(T),.,-1.232567,5.47,-10.9,-2.931000,-6.038000,-6.416000,0.008000,0.005000,0.000000,1.9525
synonymous_variant,OSBPL10,SILENT,NM_017784.4:p.His512His/c.1536C>T,caC/caT,LOW,COSM4002648(1),0.234625,0.3234,rs2278959,,,,-1.0722(T),,chr3,31725316,31725316,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His448His/c.1344C>T|700|OSBPL10|protein_coding|CODING|NM_001174060.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His512His/c.1536C>T|764|OSBPL10|protein_coding|CODING|NM_017784.4|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2096,0.2853,0.3141,0.23,0.13,0.28,,,1.000(P),,0.0000(T),.,-1.643961,5.68,-11.4,-1.076000,-3.447000,-4.905000,0.001000,0.000000,0.000000,11.7127
missense_variant,OSBPL10,MISSENSE,NM_017784.4:p.Asn254Asp/c.760A>G,Aac/Gac,MODERATE,COSM4157965(1),0.427516,0.7401,rs2290532,0.83(T),"0.724,0.006,0.009(P,B,B)",1.02(L),-1.0571(T),,chr3,31789582,31789582,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn190Asp/c.568A>G|700|OSBPL10|protein_coding|CODING|NM_001174060.1|4|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn254Asp/c.760A>G|764|OSBPL10|protein_coding|CODING|NM_017784.4|5|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5153,0.5576,0.4404,0.33,0.12,0.44,,0.000023(D),0.000(P),"1.02,1.02,1.02(T,T,T)",0.0000(T),0.035,2.299228,5.63,4.48,0.459000,0.966000,5.965000,0.784000,1.000000,1.000000,11.4451
synonymous_variant,TRIM71,SILENT,NM_001039111.1:p.Thr368Thr/c.1104G>T,acG/acT,LOW,,0.990615,1,rs6774703,,,,,,chr3,32927509,32927509,G,T,hom,synonymous_variant(LOW|SILENT|acG/acT|p.Thr368Thr/c.1104G>T|868|TRIM71|protein_coding|CODING|NM_001039111.1|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9971,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,GLB1,MISSENSE,NM_000404.2:p.Cys521Arg/c.1561T>C,Tgc/Cgc,MODERATE,,0.927117,1,rs4302331,0.6(T),0.0(B),,-0.9661(T),,chr3,33055721,33055721,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys521Arg/c.1561T>C|677|GLB1|protein_coding|CODING|NM_000404.2|15|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys491Arg/c.1471T>C|647|GLB1|protein_coding|CODING|NM_001079811.1|15|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys390Arg/c.1168T>C|546|GLB1|protein_coding|CODING|NM_001135602.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9697,0.998,0.93,0.80,1.00,,0.521708(N),1.000(P),"-3.08,-3.08,-3.08,-3.08(D,D,D,D)",0.0000(T),0.045,0.262387,5.73,1.5,-0.124000,-0.231000,0.347000,0.751000,0.000000,0.000000,1.7865
missense_variant,GLB1,MISSENSE,NM_000404.2:p.Arg109Trp/c.325C>T,Cgg/Tgg,MODERATE,,0.0091853,0,rs35289681,0(D),"0.389,0.389,0.135(B,B,B)",2.225(M),0.3757(D),,chr3,33110383,33110383,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg109Trp/c.325C>T|677|GLB1|protein_coding|CODING|NM_000404.2|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg79Trp/c.235C>T|647|GLB1|protein_coding|CODING|NM_001079811.1|3|1),intron_variant(MODIFIER|||c.246-3334C>T|546|GLB1|protein_coding|CODING|NM_001135602.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117143.2,,0.0061,0.0173,0.0258,0.02,0.00,0.02,,0.034161(N),1.000(N),"-4.78,-4.78,-4.78,-4.78(D,D,D,D)",0.7508(D),0.651,1.592336,4.1,1.07,0.655000,0.003000,1.287000,0.313000,0.033000,0.883000,12.424
synonymous_variant,GLB1,SILENT,NM_000404.2:p.Leu12Leu/c.34T>C,Ttg/Ctg,LOW,COSM4157974(4),0.927716,1,rs7614776,,,,,,chr3,33138544,33138544,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu12Leu/c.34T>C|677|GLB1|protein_coding|CODING|NM_000404.2|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu12Leu/c.34T>C|546|GLB1|protein_coding|CODING|NM_001135602.1|1|1),upstream_gene_variant(MODIFIER||251||453|TMPPE|protein_coding|CODING|NM_001039770.2||1),upstream_gene_variant(MODIFIER||251||316|TMPPE|protein_coding|CODING|NM_001136238.1||1),upstream_gene_variant(MODIFIER||230||647|GLB1|protein_coding|CODING|NM_001079811.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,K562:TFIIIC-110,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,RCV000078712.3,,0.9489,0.9424,0.9026,0.88,0.88,0.89,,,,,,,,,,,,,,,,
missense_variant,GLB1,MISSENSE,NM_000404.2:p.Pro10Leu/c.29C>T,cCt/cTt,MODERATE,COSM4157976(1),0.431909,0.4891,rs7637099,0.65(T),"0.0,0.0(B,B)",0(N),-0.7915(T),,chr3,33138549,33138549,G,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro10Leu/c.29C>T|677|GLB1|protein_coding|CODING|NM_000404.2|1|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro10Leu/c.29C>T|546|GLB1|protein_coding|CODING|NM_001135602.1|1|1),upstream_gene_variant(MODIFIER||256||453|TMPPE|protein_coding|CODING|NM_001039770.2||1),upstream_gene_variant(MODIFIER||256||316|TMPPE|protein_coding|CODING|NM_001136238.1||1),upstream_gene_variant(MODIFIER||235||647|GLB1|protein_coding|CODING|NM_001079811.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,K562:TFIIIC-110,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,RCV000078711.3,,0.5409,0.572,0.6461,0.47,0.16,0.62,,0.040312(N),1.000(P),"-4.21,-5.16,-4.25,-5.98,-5.07(D,D,D,D,D)",0.0000(T),0.247,1.482603,4.12,-0.128,0.491000,-0.158000,0.197000,0.031000,0.000000,0.000000,4.8721
missense_variant,SUSD5,MISSENSE,NM_015551.1:p.Glu378Asp/c.1134G>T,gaG/gaT,MODERATE,COSM3760051(2),0.659944,0.8542,rs6810039,0.77(T),0.0(B),-2.015(N),-0.9518(T),,chr3,33194990,33194990,C,A,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu378Asp/c.1134G>T|629|SUSD5|protein_coding|CODING|NM_015551.1|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6493,0.6441,0.3936,0.49,0.69,0.39,,0.001879(N),1.000(P),3.36(T),0.0000(T),0.024,-0.406519,5.84,-9.81,-0.996000,-2.418000,-0.950000,0.820000,0.005000,0.057000,8.3556
synonymous_variant,SUSD5,SILENT,NM_015551.1:p.Pro280Pro/c.840C>T,ccC/ccT,LOW,COSM149350(2),0.161741,0.1905,rs61743511,0.52(T),,,-0.9254(T),,chr3,33195284,33195284,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro280Pro/c.840C>T|629|SUSD5|protein_coding|CODING|NM_015551.1|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2321,0.1758,0.1541,0.14,0.09,0.16,,0.005575(N),1.000(P),2.81(T),0.0000(T),.,-1.842924,5.9,2.99,-0.797000,0.418000,1.206000,0.000000,0.002000,1.000000,4.4684
missense_variant,SUSD5,MISSENSE,NM_015551.1:p.Leu272Ser/c.815T>C,tTg/tCg,MODERATE,COSM3760052(1),0.200879,0.1925,rs61743461,,,2.015(M),-0.9368(T),,chr3,33195309,33195309,A,G,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu272Ser/c.815T>C|629|SUSD5|protein_coding|CODING|NM_015551.1|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2331,0.1902,0.1551,0.17,0.20,0.16,,,1.000(P),,0.0000(T),.,0.227208,6.02,-2.95,0.533000,-0.713000,-0.086000,0.110000,0.008000,0.073000,6.6702
synonymous_variant,SUSD5,SILENT,NM_015551.1:p.Ala113Ala/c.339T>G,gcT/gcG,LOW,,0.00159744,0,rs61744674,,,,-1.0230(T),,chr3,33249370,33249370,A,C,het,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala113Ala/c.339T>G|629|SUSD5|protein_coding|CODING|NM_015551.1|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0.0029,0.006,0.00,0.00,0.00,,,1.000(N),,0.0324(T),.,0.908230,5.46,-1.28,0.533000,-0.130000,-0.031000,0.860000,0.478000,0.038000,1.0761
missense_variant,SUSD5,MISSENSE,NM_015551.1:p.Phe40Leu/c.118T>C,Ttc/Ctc,MODERATE,,0.949681,0.995,rs9637517,1(T),0.0(B),-1.91(N),-0.9723(T),,chr3,33255592,33255592,A,G,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe40Leu/c.118T>C|629|SUSD5|protein_coding|CODING|NM_015551.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9724,0.9265,0.8489,0.89,0.97,0.86,,0.001840(N),1.000(P),2.34(T),0.0000(T),0.201,0.172618,5.03,5.03,-0.128000,1.122000,1.621000,0.901000,1.000000,1.000000,8.062
missense_variant,PDCD6IP,MISSENSE,NM_001162429.2:p.Val383Ile/c.1147G>A,Gtt/Att,MODERATE,COSM149352(3),0.29353,0.3442,rs3203777,0.25(T),"0.049,0.056(B,B)",0.955(L),-0.9078(T),,chr3,33879770,33879770,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val383Ile/c.1147G>A|873|PDCD6IP|protein_coding|CODING|NM_001162429.2|9|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val378Ile/c.1132G>A|868|PDCD6IP|protein_coding|CODING|NM_013374.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4969,0.2334,0.4523,0.32,0.09,0.44,,0.000016(N),0.000(P),"2.03,2.03(T,T)",0.0000(T),0.138,3.093060,4.92,4.92,0.585000,2.281000,8.057000,0.978000,1.000000,1.000000,11.6058
synonymous_variant,ARPP21,SILENT,NM_001267619.1:p.Ser68Ser/c.204C>T,agC/agT,LOW,COSM4002660(1),0.719848,0.6508,rs969818,,,,,,chr3,35725250,35725250,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|89|ARPP21|protein_coding|CODING|NM_001025068.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|89|ARPP21|protein_coding|CODING|NM_001025069.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|89|ARPP21|protein_coding|CODING|NM_001267616.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|793|ARPP21|protein_coding|CODING|NM_001267617.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|89|ARPP21|protein_coding|CODING|NM_001267618.1|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|813|ARPP21|protein_coding|CODING|NM_001267619.1|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|812|ARPP21|protein_coding|CODING|NM_016300.4|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser68Ser/c.204C>T|89|ARPP21|protein_coding|CODING|NM_198399.1|4|1)",HUVEC:H3K27me3,,,,0.7935,0.562,0.6243,0.71,0.84,0.65,,,,,,,,,,,,,,,,
synonymous_variant,ARPP21,SILENT,NM_001267619.1:p.Pro487Pro/c.1461A>G,ccA/ccG,LOW,,0.408147,0.1468,rs2278757,,,,,,chr3,35778773,35778773,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro467Pro/c.1401A>G|793|ARPP21|protein_coding|CODING|NM_001267617.1|14|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro487Pro/c.1461A>G|813|ARPP21|protein_coding|CODING|NM_001267619.1|14|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro521Pro/c.1563A>G|812|ARPP21|protein_coding|CODING|NM_016300.4|16|1)",,,,,0.3783,0.4035,0.4732,0.51,0.56,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ARPP21,SILENT,NM_001267619.1:p.Pro529Pro/c.1587A>G,ccA/ccG,LOW,COSM3823707(2),0.358826,0.1508,rs2012153,,,,,,chr3,35779750,35779750,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro509Pro/c.1527A>G|793|ARPP21|protein_coding|CODING|NM_001267617.1|15|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro529Pro/c.1587A>G|813|ARPP21|protein_coding|CODING|NM_001267619.1|15|1),intron_variant(MODIFIER|||c.1644+896A>G|812|ARPP21|protein_coding|CODING|NM_016300.4|16|1)",,,,,0.3681,0.304,0.4533,,,,,,,,,,,,,,,,,,,
synonymous_variant,DCLK3,SILENT,NM_033403.1:p.Leu148Leu/c.444C>T,ctC/ctT,LOW,COSM149353(3),0.246006,0.1687,rs3796187,,,,,,chr3,36779707,36779707,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu148Leu/c.444C>T|648|DCLK3|protein_coding|CODING|NM_033403.1|2|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.3016,0.3847,0.4076,0.34,0.14,0.43,,,,,,,,,,,,,,,,
missense_variant,TRANK1,MISSENSE,NM_014831.2:p.Glu1090Gly/c.3269A>G,gAg/gGg,MODERATE,,0.28095,0.5595,rs11712950,0.37(T),0.014(B),0(N),-0.9469(T),,chr3,36897812,36897812,T,C,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu1090Gly/c.3269A>G|2925|TRANK1|protein_coding|CODING|NM_014831.2|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2914,0.2493,0.2604,0.20,0.11,0.25,,0.097443(N),1.000(P),"1.42,1.83,1.42(T,T,T)",0.0000(T),0.131,-0.147776,3.61,-0.286,0.402000,-0.248000,0.007000,0.742000,0.000000,0.000000,3.2031
missense_variant,TRANK1,MISSENSE,NM_014831.2:p.Gln697Arg/c.2090A>G,cAg/cGg,MODERATE,,0.00958466,0.001,rs61732326,0.13(T),0.015(B),1.04(L),-1.0540(T),,chr3,36898991,36898991,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln697Arg/c.2090A>G|2925|TRANK1|protein_coding|CODING|NM_014831.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0051,0.0144,0.0179,0.02,0.02,0.02,,0.004147(N),0.512(N),"1.43,1.87,1.43(T,T,T)",0.0252(T),0.068,1.863903,5.75,3.23,0.533000,1.128000,3.113000,0.485000,0.995000,1.000000,8.5273
synonymous_variant,TRANK1,SILENT,NM_014831.2:p.Arg54Arg/c.160C>A,Cga/Aga,LOW,,0.346446,0.5556,rs9864910,,,,,,chr3,36940741,36940741,G,T,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg54Arg/c.160C>A|2925|TRANK1|protein_coding|CODING|NM_014831.2|3|1),"IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2894,0.2709,0.2376,,,,,,,,,,,,,,,,,,,
missense_variant,ACAA1,MISSENSE,NM_001607.3:p.Glu172Asp/c.516G>C,gaG/gaC,MODERATE,,0.136781,0.3244,rs156265,0.39(T),"0.0,0.003,0.0(B,B,B)",-0.18(N),-0.9264(T),,chr3,38170810,38170810,C,G,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu172Asp/c.516G>C|424|ACAA1|protein_coding|CODING|NM_001607.3|6|1),intron_variant(MODIFIER|||c.447-1453G>C|331|ACAA1|protein_coding|CODING|NM_001130410.1|5|1),non_coding_exon_variant(MODIFIER|||n.680G>C||ACAA1||CODING|NR_024024.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.091,0.1326,0.1431,0.11,0.05,0.15,,0.568720(N),0.007(P),"-2.67,-2.67,-2.67(D,D,D)",0.0000(T),0.194,1.800208,5.96,1.68,-0.175000,0.791000,0.247000,0.765000,0.907000,0.024000,3.3169
synonymous_variant,SLC22A14,SILENT,NM_004803.3:p.His270His/c.810T>C,caT/caC,LOW,COSM1179805(1),0.825879,0.7649,rs818819,,,,,,chr3,38350479,38350479,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His270His/c.810T>C|594|SLC22A14|protein_coding|CODING|NM_004803.3|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8395,0.8055,0.8708,0.87,0.83,0.88,,,,,,,,,,,,,,,,
missense_variant,SLC22A14,MISSENSE,NM_004803.3:p.Val284Met/c.850G>A,Gtg/Atg,MODERATE,,0.825479,0.7639,rs818818,1(T),0.012(B),-0.71(N),-0.8952(T),,chr3,38350519,38350519,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val284Met/c.850G>A|594|SLC22A14|protein_coding|CODING|NM_004803.3|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8384,0.8055,0.8708,0.87,0.83,0.88,,0.010190(N),1.000(P),"-0.85,-0.85(T,T)",0.0000(T),0.111,-1.400601,5.02,-10.0,-3.100000,-3.605000,-2.163000,0.000000,0.000000,0.000000,2.1591
missense_variant,SLC22A14,MISSENSE,NM_004803.3:p.Ser292Gly/c.874A>G,Agt/Ggt,MODERATE,,0.836262,0.7639,rs818817,0.52(T),0.004(B),-0.03(N),-1.0219(T),,chr3,38350543,38350543,A,G,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser292Gly/c.874A>G|594|SLC22A14|protein_coding|CODING|NM_004803.3|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8374,0.8069,0.8559,0.87,0.87,0.88,,0.171846(N),1.000(P),"0.37,0.37(T,T)",0.0000(T),0.064,0.355758,5.02,1.28,-1.117000,0.331000,0.589000,0.010000,0.003000,0.002000,3.7233
missense_variant,SLC22A14,MISSENSE,NM_004803.3:p.Val391Ile/c.1171G>A,Gtc/Atc,MODERATE,COSM3760067(2),0.166933,0.2063,rs73064822,0.14(T),0.014(B),1.24(L),-1.1256(T),,chr3,38355225,38355225,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val391Ile/c.1171G>A|594|SLC22A14|protein_coding|CODING|NM_004803.3|7|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.092,0.196,0.1859,0.17,0.17,0.17,,0.455649(N),1.000(P),"-0.81,-0.81(T,T)",0.0003(T),0.03,-0.274360,3.6,-6.15,-0.339000,-1.385000,-1.703000,0.540000,0.000000,0.000000,11.7661
synonymous_variant,XYLB,SILENT,NM_005108.3:p.Gly50Gly/c.150T>C,ggT/ggC,LOW,,0.963259,1,rs818850,,,,,,chr3,38401839,38401839,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly50Gly/c.150T>C|536|XYLB|protein_coding|CODING|NM_005108.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9827,0.997,0.96,0.90,1.00,,,,,,,,,,,,,,,,
synonymous_variant,XYLB,SILENT,NM_005108.3:p.Leu125Leu/c.375G>T,ctG/ctT,LOW,,0.896565,1,rs704943,,,,,,chr3,38406773,38406773,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu125Leu/c.375G>T|536|XYLB|protein_coding|CODING|NM_005108.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9755,0.9409,0.9414,0.88,0.76,0.94,,,,,,,,,,,,,,,,
synonymous_variant,XYLB,SILENT,NM_005108.3:p.Thr190Thr/c.570G>A,acG/acA,LOW,,0.897764,1,rs386617091,,,,,,chr3,38408361,38408361,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr190Thr/c.570G>A|536|XYLB|protein_coding|CODING|NM_005108.3|7|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9765,0.9395,0.9414,0.88,0.77,0.94,,,,,,,,,,,,,,,,
synonymous_variant,ACVR2B,SILENT,NM_001106.3:p.Glu111Glu/c.333A>G,gaA/gaG,LOW,COSM4157999(1),0.480431,0.4425,rs2070489,,,,,,chr3,38519424,38519424,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu111Glu/c.333A>G|512|ACVR2B|protein_coding|CODING|NM_001106.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6022,0.4914,0.6153,0.52,0.35,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ACVR2B,SILENT,NM_001106.3:p.Asn486Asn/c.1458C>T,aaC/aaT,LOW,,0.353235,0.2599,rs1046048,,,,,,chr3,38524742,38524742,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn486Asn/c.1458C>T|512|ACVR2B|protein_coding|CODING|NM_001106.3|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.3228,0.5755,0.44,0.18,0.57,,,,,,,,,,,,,,,,
synonymous_variant,SCN5A,SILENT,NM_001099404.1:p.Asp1819Asp/c.5457T>C,gaT/gaC,LOW,COSM4158002(1),0.492412,0.5784,rs1805126,,,,,,chr3,38592406,38592406,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1818Asp/c.5454T>C|2015|SCN5A|protein_coding|CODING|NM_000335.4|28|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1819Asp/c.5457T>C|2016|SCN5A|protein_coding|CODING|NM_001099404.1|28|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1801Asp/c.5403T>C|1998|SCN5A|protein_coding|CODING|NM_001099405.1|27|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1786Asp/c.5358T>C|1983|SCN5A|protein_coding|CODING|NM_001160160.1|28|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1765Asp/c.5295T>C|1962|SCN5A|protein_coding|CODING|NM_001160161.1|27|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1819Asp/c.5457T>C|2016|SCN5A|protein_coding|CODING|NM_198056.2|28|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",Electrocardiographic_conduction_measures,RCV000041627.1|RCV000127989.1,,0.2955,0.4265,0.3648,0.43,0.63,0.33,,,,,,,,,,,,,,,,
synonymous_variant,SCN5A,SILENT,NM_001099404.1:p.Glu1061Glu/c.3183A>G,gaA/gaG,LOW,COSM1485142(2),0.923123,0.997,rs7430407,,,,,,chr3,38622467,38622467,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1061Glu/c.3183A>G|2015|SCN5A|protein_coding|CODING|NM_000335.4|17|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1061Glu/c.3183A>G|2016|SCN5A|protein_coding|CODING|NM_001099404.1|17|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1061Glu/c.3183A>G|1998|SCN5A|protein_coding|CODING|NM_001099405.1|17|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1061Glu/c.3183A>G|1983|SCN5A|protein_coding|CODING|NM_001160160.1|17|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1061Glu/c.3183A>G|1962|SCN5A|protein_coding|CODING|NM_001160161.1|17|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1061Glu/c.3183A>G|2016|SCN5A|protein_coding|CODING|NM_198056.2|17|1)","GM12878:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,RCV000041613.1|RCV000127977.1,,0.9438,0.9164,0.9085,0.88,0.89,0.88,,,,,,,,,,,,,,,,
missense_variant,SCN5A,MISSENSE,NM_001099404.1:p.His558Arg/c.1673A>G,cAc/cGc,MODERATE,COSM1422826(1),0.230431,0.1012,rs1805124,1(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B)",-2.085(N),-0.9243(T),,chr3,38645420,38645420,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His558Arg/c.1673A>G|2015|SCN5A|protein_coding|CODING|NM_000335.4|12|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His558Arg/c.1673A>G|2016|SCN5A|protein_coding|CODING|NM_001099404.1|12|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His558Arg/c.1673A>G|1998|SCN5A|protein_coding|CODING|NM_001099405.1|12|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His558Arg/c.1673A>G|1983|SCN5A|protein_coding|CODING|NM_001160160.1|12|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His558Arg/c.1673A>G|1962|SCN5A|protein_coding|CODING|NM_001160161.1|12|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His558Arg/c.1673A>G|2016|SCN5A|protein_coding|CODING|NM_198056.2|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000010000.1|RCV000041604.1|RCV000058440.2,,0.273,0.2277,0.2167,0.25,0.27,0.23,,0.009278(N),0.998(P),"-3.39,-3.41,-3.41,-3.46,-3.41,-3.39,-3.42,-3.47,-3.46,-3.46(D,D,D,D,D,D,D,D,D,D)",0.0000(T),0.29,-0.945829,4.27,2.44,-2.400000,0.109000,1.656000,0.570000,0.992000,0.998000,15.5745
synonymous_variant,SCN5A,SILENT,NM_001099404.1:p.Ala29Ala/c.87A>G,gcA/gcG,LOW,,0.781749,0.6677,rs6599230,,,,,,chr3,38674712,38674712,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala29Ala/c.87A>G|2015|SCN5A|protein_coding|CODING|NM_000335.4|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala29Ala/c.87A>G|2016|SCN5A|protein_coding|CODING|NM_001099404.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala29Ala/c.87A>G|1998|SCN5A|protein_coding|CODING|NM_001099405.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala29Ala/c.87A>G|1983|SCN5A|protein_coding|CODING|NM_001160160.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala29Ala/c.87A>G|1962|SCN5A|protein_coding|CODING|NM_001160161.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala29Ala/c.87A>G|2016|SCN5A|protein_coding|CODING|NM_198056.2|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000041640.2|RCV000127955.1,,0.7464,0.719,0.7883,0.84,0.90,0.81,,,,,,,,,,,,,,,,
missense_variant,SCN10A,MISSENSE,NM_006514.2:p.Met1713Val/c.5137A>G,Atg/Gtg,MODERATE,,1,1,rs6599241,1(T),0.0(B),-2.045(N),-0.8979(T),,chr3,38739574,38739574,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1712Val/c.5134A>G|1955|SCN10A|protein_coding|CODING|NM_001293306.1|27|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1615Val/c.4843A>G|1858|SCN10A|protein_coding|CODING|NM_001293307.1|26|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1713Val/c.5137A>G|1956|SCN10A|protein_coding|CODING|NM_006514.2|27|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.000000(N),0.986(P),-4.81(D),0.0000(T),0.309,0.265926,5.38,5.38,-0.119000,1.523000,5.940000,0.994000,1.000000,1.000000,14.4719
synonymous_variant,SCN10A,SILENT,NM_006514.2:p.Ser1622Ser/c.4866T>C,tcT/tcC,LOW,,0.92472,0.9514,rs6599242,,,,,,chr3,38739845,38739845,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1621Ser/c.4863T>C|1955|SCN10A|protein_coding|CODING|NM_001293306.1|27|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1524Ser/c.4572T>C|1858|SCN10A|protein_coding|CODING|NM_001293307.1|26|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1622Ser/c.4866T>C|1956|SCN10A|protein_coding|CODING|NM_006514.2|27|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000081424.1,,0.8589,0.9121,0.9125,0.93,0.96,0.92,,,,,,,,,,,,,,,,
missense_variant,SCN10A,MISSENSE,NM_006514.2:p.Val1073Ala/c.3218T>C,gTc/gCc,MODERATE,,0.757987,0.8194,rs6795970,0.79(T),0.0(B),-0.115(N),-0.9116(T),,chr3,38766675,38766675,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val1072Ala/c.3215T>C|1955|SCN10A|protein_coding|CODING|NM_001293306.1|17|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val975Ala/c.2924T>C|1858|SCN10A|protein_coding|CODING|NM_001293307.1|16|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val1073Ala/c.3218T>C|1956|SCN10A|protein_coding|CODING|NM_006514.2|17|1)","GM06990:H3K27me3,K562:H3K4me1,NHEK:H3K27me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3","Electrocardiographic_conduction_measures,Electrocardiographic_traits,Electrocardiographic_traits,Electrocardiographic_traits",,,0.6912,0.6441,0.5905,0.70,0.90,0.60,,0.000002(N),1.000(P),-3.69(D),0.0000(T),0.018,-0.356928,4.59,-4.56,-0.222000,-1.287000,-0.830000,0.052000,0.000000,0.000000,0.783
synonymous_variant,SCN10A,SILENT,NM_006514.2:p.Thr1064Thr/c.3192G>A,acG/acA,LOW,,0.115415,0.002,rs6791171,,,,,,chr3,38766701,38766701,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr1063Thr/c.3189G>A|1955|SCN10A|protein_coding|CODING|NM_001293306.1|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr966Thr/c.2898G>A|1858|SCN10A|protein_coding|CODING|NM_001293307.1|16|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1064Thr/c.3192G>A|1956|SCN10A|protein_coding|CODING|NM_006514.2|17|1)","GM06990:H3K27me3,K562:H3K4me1,NHEK:H3K27me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.089,0.1383,0.1322,0.16,0.20,0.14,,,,,,,,,,,,,,,,
missense_variant,SCN11A,MISSENSE,NM_001287223.1:p.Val909Ile/c.2725G>A,Gtc/Atc,MODERATE,COSM3760075(4),0.153554,0.12,rs33985936,0.36(T),0.001(B),0.345(N),-1.0872(T),,chr3,38936134,38936134,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val909Ile/c.2725G>A|1791|SCN11A|protein_coding|CODING|NM_001287223.1|16|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val909Ile/c.2725G>A|1791|SCN11A|protein_coding|CODING|NM_014139.2|15|1)","HUVEC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.1575,0.2248,0.2376,0.20,0.13,0.25,,0.001956(N),1.000(P),"-1.69,-1.69,-1.69,-1.69(D,D,D,D)",0.0001(T),0.022,0.511621,4.53,-9.06,-1.027000,-1.817000,-2.830000,0.012000,0.000000,0.000000,9.7812
synonymous_variant,SCN11A,SILENT,NM_001287223.1:p.Cys546Cys/c.1638T>C,tgT/tgC,LOW,COSM4002675(1),0.61242,0.6369,rs386590497,,,,,,chr3,38945560,38945560,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys546Cys/c.1638T>C|1791|SCN11A|protein_coding|CODING|NM_001287223.1|13|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys546Cys/c.1638T>C|1791|SCN11A|protein_coding|CODING|NM_014139.2|12|1)",,,,,0.6677,0.6888,0.6471,0.61,0.52,0.65,,,,,,,,,,,,,,,,
synonymous_variant,WDR48,SILENT,NM_020839.2:p.Arg193Arg/c.577C>A,Cgg/Agg,LOW,,0.447085,0.3403,rs2293312,,,,,,chr3,39111140,39111140,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg193Arg/c.577C>A|677|WDR48|protein_coding|CODING|NM_020839.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2413,0.3242,0.3231,0.47,0.75,0.32,,,,,,,,,,,,,,,,
missense_variant,TTC21A,MISSENSE,NM_145755.2:p.Arg91Gln/c.272G>A,cGa/cAa,MODERATE,COSM1422909(2),0.347644,0.252,rs1112438,0.35(T),"0.018,0.008,0.008,0.003,0.008(B,B,B,B,B)",1.4(L),-0.9474(T),,chr3,39152345,39152345,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg91Gln/c.272G>A|1272|TTC21A|protein_coding|CODING|NM_001105513.2|4|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg91Gln/c.272G>A|1320|TTC21A|protein_coding|CODING|NM_145755.2|4|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2669,0.2911,0.2714,0.35,0.49,0.29,,0.559506(N),1.000(P),"0.34,0.34,-0.02(T,T,T)",0.0000(T),0.033,2.943055,5.74,0.555,0.655000,-0.189000,0.487000,0.989000,0.838000,0.349000,2.0891
missense_variant,TTC21A,MISSENSE,NM_145755.2:p.Arg290Lys/c.869G>A,aGg/aAg,MODERATE,COSM3760076(1),0.455671,0.2738,rs1274972,0.31(T),"0.006,0.011,0.005(B,B,B)",1.01(L),-1.0493(T),,chr3,39161456,39161456,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg241Lys/c.722G>A|1272|TTC21A|protein_coding|CODING|NM_001105513.2|7|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg290Lys/c.869G>A|1320|TTC21A|protein_coding|CODING|NM_145755.2|8|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.316,0.3429,0.334,0.47,0.75,0.34,,0.013481(N),1.000(P),"1.36,1.36,2.31(T,T,T)",0.0000(T),0.038,-0.016256,5.67,1.76,-0.175000,0.315000,0.778000,0.288000,0.354000,0.007000,6.5884
missense_variant,TTC21A,MISSENSE,NM_145755.2:p.Glu293Lys/c.877G>A,Gaa/Aaa,MODERATE,COSM4158019(1),0.455671,0.2738,rs1274971,1(T),"0.004,0.016,0.007(B,B,B)",-0.46(N),-0.9597(T),,chr3,39161464,39161464,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu244Lys/c.730G>A|1272|TTC21A|protein_coding|CODING|NM_001105513.2|7|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu293Lys/c.877G>A|1320|TTC21A|protein_coding|CODING|NM_145755.2|8|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.316,0.3429,0.334,0.47,0.75,0.34,,0.373771(N),0.999(P),"0.43,0.43,2.34(T,T,T)",0.0000(T),0.039,1.675769,5.67,3.86,-0.147000,0.746000,1.922000,0.486000,0.881000,0.956000,15.4035
synonymous_variant,TTC21A,SILENT,NM_145755.2:p.Ile1290Ile/c.3870T>C,atT/atC,LOW,,0.706869,0.7669,rs784498,,,,,,chr3,39180099,39180099,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1242Ile/c.3726T>C|1272|TTC21A|protein_coding|CODING|NM_001105513.2|27|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1290Ile/c.3870T>C|1320|TTC21A|protein_coding|CODING|NM_145755.2|28|1),downstream_gene_variant(MODIFIER||342|||MIR6822||NON_CODING|NR_106880.1||1)","IMR90:H3K36me3,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.8129,0.7435,0.7654,0.70,0.61,0.75,,,,,,,,,,,,,,,,
missense_variant,TTC21A,MISSENSE,NM_145755.2:p.Arg1316Lys/c.3947G>A,aGg/aAg,MODERATE,,0.546126,0.7252,rs704959,0.97(T),"0.001,0.002,0.001(B,B,B)",0.69(N),-0.9237(T),,chr3,39180263,39180263,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1268Lys/c.3803G>A|1272|TTC21A|protein_coding|CODING|NM_001105513.2|28|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1316Lys/c.3947G>A|1320|TTC21A|protein_coding|CODING|NM_145755.2|29|1),downstream_gene_variant(MODIFIER||506|||MIR6822||NON_CODING|NR_106880.1||1)","CD4:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.6851,0.6571,0.666,0.54,0.26,0.66,,0.007087(N),0.998(P),"0.2,0.2,0.32(T,T,T)",0.0000(T),0.032,1.459146,5.28,4.41,0.561000,1.226000,0.882000,0.936000,0.987000,0.929000,4.3881
missense_variant,CSRNP1,MISSENSE,NM_033027.3:p.Val453Ile/c.1357G>A,Gtc/Atc,MODERATE,COSM4158020(1),0.784545,0.7669,rs1274958,1(T),0.001(B),-1.61(N),-0.9849(T),,chr3,39184959,39184959,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val453Ile/c.1357G>A|589|CSRNP1|protein_coding|CODING|NM_033027.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8139,0.7709,0.7694,0.77,0.81,0.75,,0.042971(N),1.000(P),"1.03,1.03(T,T)",0.0000(T),0.014,-1.504416,4.52,0.7,-0.254000,0.068000,-0.140000,0.483000,0.631000,0.004000,4.3409
synonymous_variant,CSRNP1,SILENT,NM_033027.3:p.Ser413Ser/c.1239C>T,agC/agT,LOW,,0.491214,0.5724,rs1274957,,,,,,chr3,39185077,39185077,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser413Ser/c.1239C>T|589|CSRNP1|protein_coding|CODING|NM_033027.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6534,0.6239,0.6551,0.50,0.20,0.65,,,,,,,,,,,,,,,,
synonymous_variant,CSRNP1,SILENT,NM_033027.3:p.Ser356Ser/c.1068T>C,tcT/tcC,LOW,COSM4158021(1),0.908946,0.8948,rs784519,,,,,,chr3,39185248,39185248,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser356Ser/c.1068T>C|589|CSRNP1|protein_coding|CODING|NM_033027.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8916,0.9409,0.8857,0.89,0.93,0.87,,,,,,,,,,,,,,,,
synonymous_variant,CSRNP1,SILENT,NM_033027.3:p.Arg75Arg/c.225G>A,cgG/cgA,LOW,,0.461462,0.5615,rs784517,,,,,,chr3,39186728,39186728,C,T,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg75Arg/c.225G>A|589|CSRNP1|protein_coding|CODING|NM_033027.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.5908,0.5845,0.44,0.20,0.56,,,,,,,,,,,,,,,,
missense_variant,XIRP1,MISSENSE,NM_194293.2:p.Gln754Pro/c.2261A>C,cAg/cCg,MODERATE,,0.0201677,0.001,rs62244166,0.11(T),"0.942,0.931(D,D)",2.08(M),-1.1780(T),,chr3,39228676,39228676,T,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln754Pro/c.2261A>C|1843|XIRP1|protein_coding|CODING|NM_194293.2|2|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln754Pro/c.2261A>C|1121|XIRP1|protein_coding|CODING|NM_001198621.1|2|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0194,0.0346,0.0507,0.03,0.01,0.04,,0.001392(N),1.000(D),"3.37,3.71(T,T)",0.0075(T),0.364,1.685117,4.11,4.11,0.460000,1.873000,0.168000,0.203000,1.000000,0.019000,6.3033
missense_variant,XIRP1,MISSENSE,NM_194293.2:p.Gln346Arg/c.1037A>G,cAg/cGg,MODERATE,,0.993411,1,rs6805248,0.86(T),"0.0,0.0(B,B)",-0.695(N),-0.9879(T),,chr3,39229900,39229900,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln346Arg/c.1037A>G|1843|XIRP1|protein_coding|CODING|NM_194293.2|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln346Arg/c.1037A>G|1121|XIRP1|protein_coding|CODING|NM_001198621.1|2|1)","GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,1,0.99,0.98,1.00,,0.017604(N),0.024(P),"3.73,4.17(T,T)",0.0000(T),0.058,-0.589172,4.89,3.06,-0.119000,0.612000,1.563000,0.985000,0.999000,0.904000,7.6672
missense_variant,CX3CR1,MISSENSE,NM_001171174.1:p.Phe8Leu/c.24T>G,ttT/ttG,MODERATE,COSM4158022(1),0.422923,0.6895,rs11715522,1(T),,,-0.9571(T),,chr3,39323163,39323163,A,C,hom,"missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe8Leu/c.24T>G|387|CX3CR1|protein_coding|CODING|NM_001171174.1|1|1),upstream_gene_variant(MODIFIER||1636||355|CX3CR1|protein_coding|CODING|NM_001337.3||1),upstream_gene_variant(MODIFIER||1233||355|CX3CR1|protein_coding|CODING|NM_001171172.1||1),upstream_gene_variant(MODIFIER||399||355|CX3CR1|protein_coding|CODING|NM_001171171.1||1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.455,0.487,0.4135,0.33,0.20,0.39,,,1.000(P),-0.06(T),0.0000(T),0.037,1.188448,2.81,-2.35,0.533000,-0.414000,-1.109000,0.002000,0.000000,0.000000,4.9025
synonymous_variant,SLC25A38,SILENT,NM_017875.2:p.Leu55Leu/c.165G>A,ctG/ctA,LOW,,0.416134,0.6141,rs2270770,,,,,,chr3,39431081,39431081,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu55Leu/c.165G>A|304|SLC25A38|protein_coding|CODING|NM_017875.2|2|1),"H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.5092,0.5,0.508,0.37,0.14,0.48,,,,,,,,,,,,,,,,
synonymous_variant,MYRIP,SILENT,NM_001284423.1:p.Leu532Leu/c.1594C>T,Ctg/Ttg,LOW,COSM4005538(2),0.832468,0.7996,rs1317317,,,,,,chr3,40231883,40231883,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu532Leu/c.1594C>T|859|MYRIP|protein_coding|CODING|NM_001284423.1|10|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu532Leu/c.1594C>T|794|MYRIP|protein_coding|CODING|NM_001284424.1|10|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu443Leu/c.1327C>T|770|MYRIP|protein_coding|CODING|NM_001284425.1|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu345Leu/c.1033C>T|672|MYRIP|protein_coding|CODING|NM_001284426.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu532Leu/c.1594C>T|859|MYRIP|protein_coding|CODING|NM_015460.3|10|1),intron_variant(MODIFIER|||n.537-15670G>A||EIF1B-AS1||NON_CODING|NR_033965.1|2|1),non_coding_exon_variant(MODIFIER|||n.1881C>T||MYRIP||CODING|NR_104316.1|10|1)","HUVEC:H3K36me3,NHEK:H3K27me3",,,,0.8436,0.9179,0.9026,0.86,0.77,0.90,,,,,,,,,,,,,,,,
synonymous_variant,MYRIP,SILENT,NM_001284423.1:p.Asp571Asp/c.1713T>C,gaT/gaC,LOW,COSM4002685(1),0.368011,0.2589,rs1799418,,,,,,chr3,40251392,40251392,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp571Asp/c.1713T>C|859|MYRIP|protein_coding|CODING|NM_001284423.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp571Asp/c.1713T>C|794|MYRIP|protein_coding|CODING|NM_001284424.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp482Asp/c.1446T>C|770|MYRIP|protein_coding|CODING|NM_001284425.1|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp384Asp/c.1152T>C|672|MYRIP|protein_coding|CODING|NM_001284426.1|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp571Asp/c.1713T>C|859|MYRIP|protein_coding|CODING|NM_015460.3|11|1),intron_variant(MODIFIER|||n.537-35179A>G||EIF1B-AS1||NON_CODING|NR_033965.1|2|1),non_coding_exon_variant(MODIFIER|||n.2000T>C||MYRIP||CODING|NR_104316.1|11|1)","HUVEC:H3K36me3,NHEK:H3K27me3",,,,0.3027,0.5216,0.5517,0.46,0.30,0.54,,,,,,,,,,,,,,,,
synonymous_variant,MYRIP,SILENT,NM_001284423.1:p.Ser727Ser/c.2181T>C,agT/agC,LOW,,0.648562,0.7629,rs4618168,,,,,,chr3,40286017,40286017,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser727Ser/c.2181T>C|859|MYRIP|protein_coding|CODING|NM_001284423.1|13|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser662Ser/c.1986T>C|794|MYRIP|protein_coding|CODING|NM_001284424.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser638Ser/c.1914T>C|770|MYRIP|protein_coding|CODING|NM_001284425.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser540Ser/c.1620T>C|672|MYRIP|protein_coding|CODING|NM_001284426.1|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser727Ser/c.2181T>C|859|MYRIP|protein_coding|CODING|NM_015460.3|13|1),intron_variant(MODIFIER|||n.536+56711A>G||EIF1B-AS1||NON_CODING|NR_033965.1|2|1),non_coding_exon_variant(MODIFIER|||n.2431T>C||MYRIP||CODING|NR_104316.1|13|1)","HUVEC:H3K36me3,NHEK:H3K27me3",,,,0.6861,0.4712,0.4254,0.54,0.74,0.44,,,,,,,,,,,,,,,,
missense_variant,ENTPD3,MISSENSE,NM_001248.3:p.Ala496Pro/c.1486G>C,Gcg/Ccg,MODERATE,,,,,0.22(T),0.368(B),0(N),-1.0007(T),,chr3,40468895,40468895,G,C,het,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala496Pro/c.1486G>C|529|ENTPD3|protein_coding|CODING|NM_001248.3|11|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala496Pro/c.1486G>C|529|ENTPD3|protein_coding|CODING|NM_001291960.1|11|1),intron_variant(MODIFIER|||n.265+24301C>G||ENTPD3-AS1||NON_CODING|NR_040100.1|2|1)",HSMM:DNase1,,,,,,,,,,,0.278298(N),0.993(N),"2.77,2.77(T,T)",0.0165(T),0.601,2.028031,5.18,3.39,0.655000,0.848000,3.696000,0.153000,0.009000,0.399000,10.1421
missense_variant,ENTPD3,MISSENSE,NM_001248.3:p.Ala496Val/c.1487C>T,gCg/gTg,MODERATE,COSM4158023(1),0.277955,0.4881,rs1047855,0.51(T),0.002(B),0(N),-0.9364(T),,chr3,40468896,40468896,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala496Val/c.1487C>T|529|ENTPD3|protein_coding|CODING|NM_001248.3|11|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala496Val/c.1487C>T|529|ENTPD3|protein_coding|CODING|NM_001291960.1|11|1),intron_variant(MODIFIER|||n.265+24300G>A||ENTPD3-AS1||NON_CODING|NR_040100.1|2|1)",HSMM:DNase1,,,,0.3691,0.2867,0.2883,0.23,0.09,0.30,,0.278298(N),1.000(P),"2.94,2.94(T,T)",0.0000(T),0.079,-0.081966,5.18,-1.64,-0.140000,-0.395000,0.238000,0.167000,0.000000,0.014000,5.6082
missense_variant,ZNF620,MISSENSE,NM_175888.3:p.Gln355His/c.1065G>C,caG/caC,MODERATE,,0.0571086,0.0843,rs74970181,,0.837(P),1.785(L),-1.1095(T),,chr3,40558150,40558150,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln241His/c.723G>C|308|ZNF620|protein_coding|CODING|NM_001256167.1|3|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln241His/c.723G>C|308|ZNF620|protein_coding|CODING|NM_001256168.1|3|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln355His/c.1065G>C|422|ZNF620|protein_coding|CODING|NM_175888.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NH-A:DNase1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.0245,0.0139,0.04,0.05,0.03,,,1.000(N),"2.21,2.21(T,T)",0.0032(T),0.07,-0.457790,2.82,1.93,-0.225000,0.529000,0.647000,0.012000,0.311000,0.001000,4.8946
synonymous_variant,ZNF621,SILENT,NM_001098414.2:p.Arg161Arg/c.483A>G,cgA/cgG,LOW,,0.102436,0.2192,rs35633370,,,,,,chr3,40573744,40573744,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg161Arg/c.483A>G|439|ZNF621|protein_coding|CODING|NM_001098414.2|5|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg161Arg/c.483A>G|439|ZNF621|protein_coding|CODING|NM_198484.4|5|1),intron_variant(MODIFIER|||c.436+47A>G|157|ZNF621|protein_coding|CODING|NM_001287245.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0764,0.0179,0.05,0.07,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CTNNB1,SILENT,NM_001098209.1:p.Leu774Leu/c.2320C>T,Ctg/Ttg,LOW,,0.00159744,0,rs4135386,,,,,,chr3,41280807,41280807,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu774Leu/c.2320C>T|781|CTNNB1|protein_coding|CODING|NM_001098209.1|15|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu774Leu/c.2320C>T|781|CTNNB1|protein_coding|CODING|NM_001098210.1|15|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu774Leu/c.2320C>T|781|CTNNB1|protein_coding|CODING|NM_001904.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.005,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,ULK4,MISSENSE,NM_017886.2:p.Ser640Ala/c.1918T>G,Tcc/Gcc,MODERATE,,0.870008,0.754,rs4973986,1(T),0.0(B),-1.095(N),-0.9292(T),,chr3,41841716,41841716,A,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser640Ala/c.1918T>G|1275|ULK4|protein_coding|CODING|NM_017886.2|20|1),,,,,0.8364,0.9164,0.8231,0.88,0.97,0.84,,0.036545(N),0.000(P),-0.09(T),0.0000(T),0.051,0.405563,5.32,5.32,-0.217000,1.394000,2.121000,0.962000,1.000000,1.000000,15.8521
missense_variant,ULK4,MISSENSE,NM_017886.2:p.Ala542Thr/c.1624G>A,Gct/Act,MODERATE,COSM4002689(1),0.688498,0.8532,rs1052501,1(T),"0.0,0.0(B,B)",-1.79(N),-0.9805(T),,chr3,41925398,41925398,C,T,hom,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala542Thr/c.1624G>A|1275|ULK4|protein_coding|CODING|NM_017886.2|17|1),GM12878:H3K36me3,Multiple_myeloma,,,0.8211,0.8184,0.8101,0.68,0.38,0.83,,0.464502(N),1.000(P),"-0.09,0.71(T,T)",0.0000(T),0.022,-0.940846,4.54,0.24,-0.521000,-0.461000,-0.120000,0.673000,0.006000,0.002000,3.74
synonymous_variant,ULK4,SILENT,NM_017886.2:p.Val533Val/c.1599A>G,gtA/gtG,LOW,,0.919329,1,rs1716687,,,,,,chr3,41925423,41925423,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val533Val/c.1599A>G|1275|ULK4|protein_coding|CODING|NM_017886.2|17|1),GM12878:H3K36me3,,,,1,0.9827,0.996,0.92,0.77,1.00,,,,,,,,,,,,,,,,
missense_variant,ULK4,MISSENSE,NM_017886.2:p.Ile224Val/c.670A>G,Att/Gtt,MODERATE,COSM4158031(1),0.679912,0.8522,rs1716975,0.66(T),"0.002,0.002(B,B)",0.69(N),-1.0038(T),,chr3,41960006,41960006,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile224Val/c.670A>G|1275|ULK4|protein_coding|CODING|NM_017886.2|7|1),,,,,0.8272,0.7997,0.8042,0.67,0.34,0.82,,0.419091(N),1.000(P),"-0.1,-0.1(T,T)",0.0000(T),0.027,-0.583388,5.4,-5.89,-1.201000,-1.466000,0.078000,0.603000,0.000000,0.190000,4.2228
missense_variant,ULK4,MISSENSE,NM_017886.2:p.Lys39Arg/c.116A>G,aAa/aGa,MODERATE,COSM1131440(2),0.682109,0.8512,rs2272007,0.41(T),"0.059,0.132(B,B)",-0.635(N),-1.0152(T),,chr3,41996136,41996136,T,C,hom,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys39Arg/c.116A>G|1275|ULK4|protein_coding|CODING|NM_017886.2|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",Multiple_myeloma_hyperdiploidy,,,0.8272,0.8098,0.8091,0.68,0.36,0.83,,0.000131(N),0.042(P),"-0.19,-0.19,-0.19(T,T,T)",0.0000(T),0.125,1.105636,5.56,4.4,0.456000,1.058000,3.866000,0.982000,1.000000,1.000000,11.7026
synonymous_variant,TRAK1,SILENT,NM_001042646.2:p.Ser365Ser/c.1095A>G,tcA/tcG,LOW,,0.788339,0.9792,rs9851455,,,,,,chr3,42236415,42236415,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser365Ser/c.1095A>G|953|TRAK1|protein_coding|CODING|NM_001042646.2|10|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser365Ser/c.1095A>G|744|TRAK1|protein_coding|CODING|NM_001265608.1|10|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser291Ser/c.873A>G|670|TRAK1|protein_coding|CODING|NM_001265609.1|9|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser291Ser/c.873A>G|556|TRAK1|protein_coding|CODING|NM_001265610.1|9|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser307Ser/c.921A>G|686|TRAK1|protein_coding|CODING|NM_014965.4|9|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.6994,0.8559,0.7704,0.73,0.69,0.75,,,,,,,,,,,,,,,,
synonymous_variant,TRAK1,SILENT,NM_001265610.1:p.Ala533Ala/c.1599G>A,gcG/gcA,LOW,,0.74401,0.9792,rs9311309,,,,,,chr3,42244321,42244321,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala533Ala/c.1599G>A|556|TRAK1|protein_coding|CODING|NM_001265610.1|12|1),intron_variant(MODIFIER|||c.1744+77G>A|953|TRAK1|protein_coding|CODING|NM_001042646.2|13|1),intron_variant(MODIFIER|||c.1744+77G>A|744|TRAK1|protein_coding|CODING|NM_001265608.1|13|1),intron_variant(MODIFIER|||c.1522+77G>A|670|TRAK1|protein_coding|CODING|NM_001265609.1|12|1),intron_variant(MODIFIER|||c.1570+77G>A|686|TRAK1|protein_coding|CODING|NM_014965.4|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.8213,0.6988,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRAK1,SILENT,NM_001042646.2:p.Ser583Ser/c.1749C>T,tcC/tcT,LOW,COSM4158033(1),0.514976,0.504,rs2290134,,,,,,chr3,42251263,42251263,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser583Ser/c.1749C>T|953|TRAK1|protein_coding|CODING|NM_001042646.2|14|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser583Ser/c.1749C>T|744|TRAK1|protein_coding|CODING|NM_001265608.1|14|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser509Ser/c.1527C>T|670|TRAK1|protein_coding|CODING|NM_001265609.1|13|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser525Ser/c.1575C>T|686|TRAK1|protein_coding|CODING|NM_014965.4|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.6499,0.499,0.49,0.45,0.51,,,,,,,,,,,,,,,,
synonymous_variant,LYZL4,SILENT,NM_144634.2:p.Phe53Phe/c.159C>T,ttC/ttT,LOW,COSM1178478(3),0.111821,0.2758,rs2286720,,,,,,chr3,42448471,42448471,G,A,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe53Phe/c.159C>T|146|LYZL4|protein_coding|CODING|NM_144634.2|3|1),,Reasoning,,,0.1319,0.049,0.1113,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,SEC22C,SILENT,NM_032970.3:p.Gly55Gly/c.165T>C,ggT/ggC,LOW,,0.535942,0.5843,rs2271186,,,,,,chr3,42610374,42610374,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly55Gly/c.165T>C|250|SEC22C|protein_coding|CODING|NM_001201572.1|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly55Gly/c.165T>C|228|SEC22C|protein_coding|CODING|NM_001201584.1|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly55Gly/c.165T>C|250|SEC22C|protein_coding|CODING|NM_004206.3|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly55Gly/c.165T>C|303|SEC22C|protein_coding|CODING|NM_032970.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5092,0.2968,0.337,0.45,0.70,0.33,,,,,,,,,,,,,,,,
synonymous_variant,NKTR,SILENT,NM_005385.3:p.Ser767Ser/c.2301C>T,agC/agT,LOW,COSM4002695(3),0.19389,0.1101,rs35890296,,,,,,chr3,42679497,42679497,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser767Ser/c.2301C>T|1462|NKTR|protein_coding|CODING|NM_005385.3|13|1),intron_variant(MODIFIER|||n.396-14193G>A||LOC101928323||NON_CODING|NR_125400.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2505,0.0735,0.1402,0.18,0.29,0.12,,,,,,,,,,,,,,,,
missense_variant,NKTR,MISSENSE,NM_005385.3:p.Leu861Val/c.2581T>G,Ttg/Gtg,MODERATE,COSM4002696(1),0.192093,0.1022,rs33969824,0.26(T),"0.004,0.001(B,B)",0.345(N),-0.9201(T),,chr3,42679777,42679777,T,G,hom,"missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu861Val/c.2581T>G|1462|NKTR|protein_coding|CODING|NM_005385.3|13|1),intron_variant(MODIFIER|||n.396-14473A>C||LOC101928323||NON_CODING|NR_125400.1|1|1)","H1ESC:H3K36me3,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,GM12878:IRF4,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2515,0.0735,0.1402,0.18,0.28,0.12,,0.200163(N),1.000(P),2.73(T),0.0000(T),0.021,-0.321741,5.67,-1.53,0.533000,-0.148000,0.105000,0.620000,0.001000,0.000000,7.5111
synonymous_variant,ZBTB47,SILENT,NM_145166.3:p.Pro261Pro/c.783A>G,ccA/ccG,LOW,COSM446515(2),0.550319,0.5923,rs339723,,,,,,chr3,42700630,42700630,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro261Pro/c.783A>G|747|ZBTB47|protein_coding|CODING|NM_145166.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:Znf263,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5204,0.3098,0.3479,0.45,0.73,0.33,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB47,SILENT,NM_145166.3:p.Glu290Glu/c.870A>G,gaA/gaG,LOW,,0.202676,0.119,rs72864072,,,,,,chr3,42700717,42700717,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu290Glu/c.870A>G|747|ZBTB47|protein_coding|CODING|NM_145166.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:Znf263,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2526,0.0807,0.1402,,,,,,,,,,,,,,,,,,,
missense_variant,KLHL40,MISSENSE,NM_152393.3:p.Asn345Ser/c.1034A>G,aAc/aGc,MODERATE,COSM149365(3),0.622604,0.8343,rs6805421,0.83(T),0.001(B),-0.55(N),-0.9583(T),,chr3,42728144,42728144,A,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn345Ser/c.1034A>G|621|KLHL40|protein_coding|CODING|NM_152393.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7249,0.5922,0.672,0.56,0.41,0.63,,0.000072(D),0.999(P),-0.19(T),0.0000(T),0.004,0.526858,5.08,3.24,-0.280000,0.518000,1.917000,0.996000,0.993000,0.915000,11.0302
synonymous_variant,KLHL40,SILENT,NM_152393.3:p.Cys434Cys/c.1302C>T,tgC/tgT,LOW,,,,,,,,,,chr3,42729783,42729783,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys434Cys/c.1302C>T|621|KLHL40|protein_coding|CODING|NM_152393.3|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KLHL40,MISSENSE,NM_152393.3:p.Cys617Arg/c.1849T>C,Tgc/Cgc,MODERATE,,0.89976,0.998,rs123509,1(T),0.0(B),-1.895(N),-0.9607(T),,chr3,42733468,42733468,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys617Arg/c.1849T>C|621|KLHL40|protein_coding|CODING|NM_152393.3|6|1),downstream_gene_variant(MODIFIER||687||504|HHATL|protein_coding|CODING|NM_020707.3||1),downstream_gene_variant(MODIFIER||687|||HHATL||CODING|NR_027753.1||1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8916,0.8689,0.7714,0.81,0.90,0.75,,0.000000(N),0.009(P),-0.36(T),0.0000(T),0.11,-2.546536,3.29,3.29,-1.063000,0.685000,1.237000,0.034000,1.000000,1.000000,7.3787
missense_variant,HHATL,MISSENSE,NM_020707.3:p.Met403Val/c.1207A>G,Atg/Gtg,MODERATE,COSM4158036(1),0.649161,0.7113,rs11079,0.85(T),0.0(B),-2.455(N),-0.9282(T),,chr3,42735150,42735150,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met403Val/c.1207A>G|504|HHATL|protein_coding|CODING|NM_020707.3|10|1),downstream_gene_variant(MODIFIER||1212||621|KLHL40|protein_coding|CODING|NM_152393.3||1),non_coding_exon_variant(MODIFIER|||n.1354A>G||HHATL||CODING|NR_027753.1|11|1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.5828,0.6787,0.5924,0.61,0.65,0.59,,0.000003(N),0.000(P),"-0.65,-0.65(T,T)",0.0000(T),0.014,0.156349,4.35,4.35,-0.404000,0.827000,3.125000,0.630000,0.999000,1.000000,12.4847
synonymous_variant,HHATL,SILENT,NM_020707.3:p.Ala361Ala/c.1083T>C,gcT/gcC,LOW,COSM4158037(1),0.700479,0.7133,rs339697,,,,,,chr3,42735274,42735274,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala361Ala/c.1083T>C|504|HHATL|protein_coding|CODING|NM_020707.3|10|1),downstream_gene_variant(MODIFIER||1336||621|KLHL40|protein_coding|CODING|NM_152393.3||1),non_coding_exon_variant(MODIFIER|||n.1230T>C||HHATL||CODING|NR_027753.1|11|1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5982,0.6888,0.5954,0.66,0.80,0.59,,,,,,,,,,,,,,,,
missense_variant,CCDC13,MISSENSE,NM_144719.3:p.Ser547Thr/c.1639T>A,Tca/Aca,MODERATE,,0.204073,0.1081,rs12495805,0.61(T),0.0(B),-1.935(N),-0.9458(T),,chr3,42772038,42772038,A,T,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser547Thr/c.1639T>A|715|CCDC13|protein_coding|CODING|NM_144719.3|13|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1",,,,0.2812,0.1844,0.1849,0.20,0.24,0.18,,0.038850(N),1.000(P),2.86(T),0.0000(T),0.017,-0.829686,5.76,-3.26,-1.051000,-0.933000,-0.454000,0.575000,0.006000,0.002000,10.1473
synonymous_variant,CCDC13,SILENT,NM_144719.3:p.Leu338Leu/c.1014C>A,ctC/ctA,LOW,COSM3760090(1),0.199081,0.1597,rs62246603,,,,,,chr3,42781276,42781276,G,T,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu338Leu/c.1014C>A|715|CCDC13|protein_coding|CODING|NM_144719.3|9|1),intron_variant(MODIFIER|||n.85-1191G>T||CCDC13-AS1||NON_CODING|NR_046732.1|1|1)","GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2761,0.1686,0.2674,0.23,0.16,0.27,,,,,,,,,,,,,,,,
synonymous_variant,CCDC13,SILENT,NM_144719.3:p.Ser257Ser/c.771T>C,tcT/tcC,LOW,COSM3760091(1),0.501398,0.4534,rs2240859,,,,,,chr3,42787469,42787469,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser257Ser/c.771T>C|715|CCDC13|protein_coding|CODING|NM_144719.3|7|1),downstream_gene_variant(MODIFIER||819|||CCDC13-AS1||NON_CODING|NR_046732.1||1)","CD4:H3K18ac,CD4:H2BK20ac,H1ESC:H3K27me3,H1ESC:DNase1",,,,0.6074,0.402,0.4592,0.49,0.54,0.46,,,,,,,,,,,,,,,,
missense_variant,CCDC13,MISSENSE,NM_144719.3:p.Arg25Trp/c.73C>T,Cgg/Tgg,MODERATE,COSM3760092(1),0.167732,0.1667,rs17238798,0(D),"0.995,0.995,0.977(D,D,D)",2.3(M),-1.0556(T),,chr3,42799765,42799765,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg25Trp/c.73C>T|715|CCDC13|protein_coding|CODING|NM_144719.3|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2791,0.1571,0.2694,0.20,0.06,0.27,,0.000001(D),1.000(P),1.18(T),0.0000(T),0.161,2.024097,4.61,0.786,-0.457000,-0.023000,-0.396000,0.354000,0.002000,0.021000,12.9469
missense_variant,ACKR2,MISSENSE,NM_001296.4:p.Tyr373Ser/c.1118A>C,tAc/tCc,MODERATE,COSM1423149(1),0.441094,0.6776,rs2228468,,0.0(B),-0.345(N),-0.9404(T),,chr3,42907112,42907112,A,C,het,missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr373Ser/c.1118A>C|384|ACKR2|protein_coding|CODING|NM_001296.4|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",Monocyte_count,,,0.4264,0.5807,0.4006,0.35,0.25,0.40,,,1.000(P),"-0.52,-0.52,-0.52(T,T,T)",0.0000(T),0.009,-2.000847,3.45,0.689,-1.623000,-0.082000,-0.129000,0.002000,0.004000,0.000000,3.1046
missense_variant,CYP8B1,MISSENSE,NM_004391.2:p.Ser88Pro/c.262T>C,Tcc/Ccc,MODERATE,,0.984425,1,rs9865715,0.48(T),"0.004,0.002(B,B)",-0.55(N),-0.9787(T),,chr3,42917047,42917047,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser88Pro/c.262T>C|501|CYP8B1|protein_coding|CODING|NM_004391.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9971,1,0.98,0.95,1.00,,0.000498(N),0.000(P),"-0.38,-0.38(T,T)",0.0000(T),0.092,0.295384,5.04,3.17,-0.215000,0.738000,0.808000,0.753000,1.000000,0.305000,8.9569
synonymous_variant,ZNF662,SILENT,NM_001134656.1:p.Ile262Ile/c.786T>C,atT/atC,LOW,,0.939097,1,rs1427801,,,,,,chr3,42956273,42956273,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile262Ile/c.786T>C|452|ZNF662|protein_coding|CODING|NM_001134656.1|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile236Ile/c.708T>C|426|ZNF662|protein_coding|CODING|NM_207404.3|5|1)","HeLa-S3:DNase1,NH-A:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3",,,,0.9836,0.9654,0.9751,0.93,0.84,0.98,,,,,,,,,,,,,,,,
synonymous_variant,FAM198A,SILENT,NM_001129908.2:p.Gly225Gly/c.675A>G,ggA/ggG,LOW,,0.67512,0.8016,rs2948619,,,,,,chr3,43074430,43074430,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly225Gly/c.675A>G|575|FAM198A|protein_coding|CODING|NM_001129908.2|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.683,0.7118,0.5606,0.58,0.63,0.55,,,,,,,,,,,,,,,,
missense_variant,FAM198A,MISSENSE,NM_001129908.2:p.His227Tyr/c.679C>T,Cat/Tat,MODERATE,,0.438698,0.6518,rs2936817,,0.178(B),0.695(N),-0.9540(T),,chr3,43074434,43074434,C,T,hom,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His227Tyr/c.679C>T|575|FAM198A|protein_coding|CODING|NM_001129908.2|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.316,0.5331,0.4066,0.38,0.33,0.41,,0.320400(N),1.000(P),1.54(T),0.0000(T),0.015,1.509802,4.88,-0.785,-0.218000,-0.058000,0.050000,0.004000,0.000000,0.000000,1.5116
synonymous_variant,FAM198A,SILENT,NM_001129908.2:p.Ala372Ala/c.1116A>G,gcA/gcG,LOW,,0.948283,1,rs588335,,,,,,chr3,43074871,43074871,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala372Ala/c.1116A>G|575|FAM198A|protein_coding|CODING|NM_001129908.2|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9847,0.9755,0.9831,0.94,0.85,0.99,,,,,,,,,,,,,,,,
missense_variant,FAM198A,MISSENSE,NM_001129908.2:p.Gln460Arg/c.1379A>G,cAg/cGg,MODERATE,,0.541134,0.6696,rs536119,1(T),"0.0,0.0(B,B)",-2.38(N),-0.9756(T),,chr3,43095101,43095101,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln460Arg/c.1379A>G|575|FAM198A|protein_coding|CODING|NM_001129908.2|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3661,0.6686,0.5954,0.56,0.45,0.61,,0.148503(N),0.000(P),"1.69,1.69(T,T)",0.0000(T),0.141,-0.079297,5.62,0.681,-0.974000,-0.417000,0.166000,0.817000,0.965000,0.469000,6.9169
synonymous_variant,FAM198A,SILENT,NM_001129908.2:p.Leu520Leu/c.1560A>G,ctA/ctG,LOW,,0.389377,0.5823,rs664628,,,,,,chr3,43097710,43097710,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu520Leu/c.1560A>G|575|FAM198A|protein_coding|CODING|NM_001129908.2|5|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.272,0.5058,0.3887,0.35,0.29,0.38,,,,,,,,,,,,,,,,
synonymous_variant,POMGNT2,SILENT,NM_032806.5:p.Gly496Gly/c.1488C>T,ggC/ggT,LOW,,0.00379393,0,rs35207939,,,,,,chr3,43121436,43121436,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly496Gly/c.1488C>T|580|POMGNT2|protein_coding|CODING|NM_032806.5|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0,0,0.0189,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,POMGNT2,SILENT,NM_032806.5:p.Pro455Pro/c.1365G>A,ccG/ccA,LOW,,0.782748,0.7401,rs386601216,,,,,,chr3,43121559,43121559,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro455Pro/c.1365G>A|580|POMGNT2|protein_coding|CODING|NM_032806.5|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7352,0.8127,0.7922,0.80,0.81,0.80,,,,,,,,,,,,,,,,
synonymous_variant,SNRK,SILENT,NM_001100594.1:p.Gly160Gly/c.480G>A,ggG/ggA,LOW,COSM3760095(1),0.0139776,0,rs17406308,,,,,,chr3,43345175,43345175,G,A,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly160Gly/c.480G>A|765|SNRK|protein_coding|CODING|NM_001100594.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly160Gly/c.480G>A|765|SNRK|protein_coding|CODING|NM_017719.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0256,0.0115,0.0338,0.02,0.00,0.03,,,,,,,,,,,,,,,,
missense_variant,ANO10,MISSENSE,NM_001204831.1:p.Ser607Pro/c.1819T>C,Tct/Cct,MODERATE,,0.98143,1,rs6441771,0.1(T),0.0(B),,-1.0065(T),,chr3,43414318,43414318,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser607Pro/c.1819T>C|627|ANO10|protein_coding|CODING|NM_001204831.1|12|1),intron_variant(MODIFIER|||c.1717-5852T>C|594|ANO10|protein_coding|CODING|NM_001204832.1|11|1),intron_variant(MODIFIER|||c.1582-5852T>C|549|ANO10|protein_coding|CODING|NM_001204833.1|10|1),intron_variant(MODIFIER|||c.1345-5852T>C|470|ANO10|protein_coding|CODING|NM_001204834.1|11|1),intron_variant(MODIFIER|||c.1915-5852T>C|660|ANO10|protein_coding|CODING|NM_018075.3|12|1)","H1ESC:DNase1,HUVEC:DNase1,NHEK:H3K36me3",,,,1,0.9942,1,,,,,,1.000(P),0.28(T),0.0000(T),0.096,-0.497036,1.98,-3.77,-1.096000,-1.683000,-1.059000,0.002000,0.000000,0.000000,1.6764
missense_variant,ANO10,MISSENSE,NM_018075.3:p.Arg462Gln/c.1385G>A,cGg/cAg,MODERATE,,0.663139,0.8849,rs3772165,0.32(T),"0.009,0.007,0.074,0.009,0.003(B,B,B,B,B)",1.355(L),-0.9990(T),,chr3,43602803,43602803,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg462Gln/c.1385G>A|627|ANO10|protein_coding|CODING|NM_001204831.1|9|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg396Gln/c.1187G>A|594|ANO10|protein_coding|CODING|NM_001204832.1|8|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg351Gln/c.1052G>A|549|ANO10|protein_coding|CODING|NM_001204833.1|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg272Gln/c.815G>A|470|ANO10|protein_coding|CODING|NM_001204834.1|8|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg462Gln/c.1385G>A|660|ANO10|protein_coding|CODING|NM_018075.3|9|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000116351.2,,0.7648,0.7334,0.5785,0.56,0.50,0.59,,0.058784(N),1.000(P),"0.02,0.02,0.02,0.02,0.02(T,T,T,T,T)",0.0000(T),0.033,2.371895,5.42,-5.43,-0.484000,-0.909000,-0.139000,0.982000,0.017000,0.011000,16.2443
synonymous_variant,ZNF852,SILENT,NM_001287349.1:p.Ser200Ser/c.600C>G,tcC/tcG,LOW,,0.0139776,0,rs139385438,,,,,,chr3,44541669,44541669,G,C,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser200Ser/c.600C>G|530|ZNF852|protein_coding|CODING|NM_001287349.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.0245,0.0388,,,,,,,,,,,,,,,,,,,
missense_variant,ZKSCAN7,MISSENSE,NM_001288590.1:p.Thr483Ile/c.1448C>T,aCt/aTt,MODERATE,,0.752196,0.8343,rs9873604,1(T),"0.001,0.0(B,B)",0.755(N),-0.9755(T),,chr3,44612050,44612050,C,T,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr483Ile/c.1448C>T|754|ZKSCAN7|protein_coding|CODING|NM_001288590.1|6|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr483Ile/c.1448C>T|754|ZKSCAN7|protein_coding|CODING|NM_018651.3|6|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr332Ile/c.995C>T|373|ZKSCAN7|protein_coding|CODING|NM_001288592.1|5|1),intron_variant(MODIFIER|||c.811+2125C>T|276|ZKSCAN7|protein_coding|CODING|NM_001288591.1|5|1),intron_variant(MODIFIER|||c.811+2125C>T|276|ZKSCAN7|protein_coding|CODING|NM_025169.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7924,0.7305,0.7545,0.70,0.67,0.72,,0.113405(N),1.000(P),"3.17,3.17,3.17(T,T,T)",0.0000(T),0.018,-2.273462,4.26,-1.03,-0.269000,-0.736000,-2.303000,0.589000,0.000000,0.000000,5.4526
missense_variant,ZNF35,MISSENSE,NM_003420.3:p.Thr2Ser/c.5C>G,aCt/aGt,MODERATE,COSM3760102(1),0.315296,0.7907,rs2272044,0(D),0.191(B),0.805(L),-1.1672(T),,chr3,44692564,44692564,C,G,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr2Ser/c.5C>G|527|ZNF35|protein_coding|CODING|NM_003420.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4335,0.2983,0.1402,0.11,0.04,0.14,,,0.000(P),2.78(T),0.0000(T),0.133,3.725294,4.08,4.08,0.558000,2.298000,0.427000,0.973000,0.990000,0.992000,12.0697
missense_variant,ZNF502,MISSENSE,NM_001134440.1:p.Glu243Ala/c.728A>C,gAa/gCa,MODERATE,,0.538538,0.8353,rs7640654,0.01(D),0.099(B),1.57(L),-1.0684(T),,chr3,44763037,44763037,A,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu243Ala/c.728A>C|544|ZNF502|protein_coding|CODING|NM_001134440.1|4|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu243Ala/c.728A>C|544|ZNF502|protein_coding|CODING|NM_001134441.1|3|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu243Ala/c.728A>C|544|ZNF502|protein_coding|CODING|NM_001134442.1|3|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu243Ala/c.728A>C|544|ZNF502|protein_coding|CODING|NM_001282880.1|5|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu243Ala/c.728A>C|544|ZNF502|protein_coding|CODING|NM_033210.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.7035,0.5288,0.5219,0.41,0.26,0.49,,,1.000(P),"5.24,5.24,5.24(T,T,T)",0.0000(T),0.087,2.824378,3.63,3.63,0.533000,1.899000,2.020000,0.952000,0.519000,0.005000,12.1883
missense_variant,ZNF501,MISSENSE,NM_001258280.1:p.Met17Val/c.49A>G,Atg/Gtg,MODERATE,,0.695288,0.881,rs4682752,0.01(D),"0.0,0.0(B,B)",1.095(L),-1.0028(T),,chr3,44775962,44775962,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|271|ZNF501|protein_coding|CODING|NM_001258280.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|271|ZNF501|protein_coding|CODING|NM_145044.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7423,0.6643,0.5954,0.58,0.63,0.56,,,0.917(P),1.14(T),0.0000(T),0.097,2.082127,2.39,2.39,0.455000,1.351000,1.006000,0.251000,0.009000,0.001000,9.9914
missense_variant,ZNF501,MISSENSE,NM_001258280.1:p.Arg60Cys/c.178C>T,Cgt/Tgt,MODERATE,,0.00499201,0,rs78023512,0.04(D),"0.001,0.001(B,B)",1.39(L),-1.0013(T),,chr3,44776091,44776091,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg60Cys/c.178C>T|271|ZNF501|protein_coding|CODING|NM_001258280.1|3|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg60Cys/c.178C>T|271|ZNF501|protein_coding|CODING|NM_145044.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0,0.0115,0.0159,0.01,0.00,0.02,,,0.999(N),1.24(T),0.0309(T),0.044,2.277864,2.52,0.63,0.563000,0.141000,-0.351000,0.989000,0.978000,0.000000,0.7866
missense_variant,KIF15,MISSENSE,NM_020242.2:p.Leu1206Met/c.3616C>A,Ctg/Atg,MODERATE,COSM3760104(1),0.527756,0.8492,rs3804583,0.2(T),0.021(B),1.525(L),-0.9846(T),,chr3,44884647,44884647,C,A,het,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu1206Met/c.3616C>A|1388|KIF15|protein_coding|CODING|NM_020242.2|30|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7076,0.5303,0.5159,0.39,0.21,0.48,,0.421302(N),0.494(P),"-0.46,1.75(T,T)",0.0000(T),0.355,3.120522,5.36,3.52,0.591000,1.367000,0.526000,0.970000,0.913000,0.802000,9.7004
missense_variant,TGM4,MISSENSE,NM_003241.3:p.Glu100Asp/c.300G>C,gaG/gaC,MODERATE,COSM3760106(1),0.427117,0.8165,rs2271087,0.31(T),"0.179,0.6(B,P)",1.295(L),-0.9566(T),,chr3,44929287,44929287,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu100Asp/c.300G>C|684|TGM4|protein_coding|CODING|NM_003241.3|3|1),splice_region_variant(LOW|||c.300G>C|684|TGM4|protein_coding|CODING|NM_003241.3|3|1)","NHEK:H3K27ac,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5368,0.4251,0.2873,0.25,0.18,0.29,,0.169031(U),1.000(P),-1.6(D),0.0000(T),0.068,1.567273,1.43,1.43,0.467000,1.094000,1.822000,0.048000,0.138000,0.935000,6.2761
synonymous_variant,TGM4,SILENT,NM_003241.3:p.Tyr237Tyr/c.711C>T,taC/taT,LOW,COSM3760107(2),0.567292,0.8006,rs1995640,,,,,,chr3,44943069,44943069,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr237Tyr/c.711C>T|684|TGM4|protein_coding|CODING|NM_003241.3|7|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6053,0.5086,0.4026,0.45,0.50,0.42,,,,,,,,,,,,,,,,
missense_variant,TGM4,MISSENSE,NM_003241.3:p.Glu313Lys/c.937G>A,Gag/Aag,MODERATE,COSM3760108(2),0.555112,0.7996,rs1995641,0.21(T),0.13(B),0.16(N),-1.0000(T),,chr3,44943389,44943389,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu313Lys/c.937G>A|684|TGM4|protein_coding|CODING|NM_003241.3|8|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6022,0.5072,0.4026,0.43,0.46,0.42,,0.102256(N),1.000(P),0.73(T),0.0000(T),0.033,-0.345692,2.99,-3.6,-0.471000,-0.402000,0.881000,0.006000,0.000000,0.508000,8.3409
missense_variant,TGM4,MISSENSE,NM_003241.3:p.Arg372Cys/c.1114C>T,Cgc/Tgc,MODERATE,COSM3760109(2),0.674521,0.8869,rs3749195,0(D),0.427(B),2.635(M),-1.0795(T),,chr3,44948479,44948479,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg372Cys/c.1114C>T|684|TGM4|protein_coding|CODING|NM_003241.3|10|1),"GM12878:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,0.7618,0.5807,0.4463,0.53,0.65,0.47,,0.295032(U),0.596(P),1.94(T),0.0000(T),0.193,1.805339,2.03,2.03,0.460000,1.039000,-0.551000,0.517000,0.020000,0.000000,9.0882
missense_variant,TGM4,MISSENSE,NM_003241.3:p.Val409Ile/c.1225G>A,Gta/Ata,MODERATE,COSM3760110(1),0.619409,0.8849,rs9876921,0.16(T),0.002(B),-0.305(N),-0.9614(T),,chr3,44948590,44948590,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val409Ile/c.1225G>A|684|TGM4|protein_coding|CODING|NM_003241.3|10|1),"HMEC:DNase1,NHEK:DNase1",,,,0.7566,0.5677,0.4463,0.47,0.46,0.47,,0.144636(N),1.000(P),-1.26(T),0.0000(T),0.027,-2.000963,2.03,-4.07,-3.119000,-2.460000,0.059000,0.001000,0.000000,0.000000,2.4576
missense_variant,ZDHHC3,MISSENSE,NM_016598.2:p.His220Gln/c.660T>G,caT/caG,MODERATE,,0.0081869,0,rs3087823,0.29(T),0.002(B),1.415(L),-1.0461(T),,chr3,44974433,44974433,A,C,het,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His220Gln/c.660T>G|327|ZDHHC3|protein_coding|CODING|NM_016598.2|6|1),intron_variant(MODIFIER|||c.610+177T>G|299|ZDHHC3|protein_coding|CODING|NM_001135179.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0159,0.0268,0.02,0.01,0.03,,0.705819(N),1.000(N),1.22(T),0.0206(T),0.031,1.734136,4.9,-9.79,0.533000,-1.478000,-0.289000,0.102000,0.000000,0.000000,11.5275
missense_variant,EXOSC7,MISSENSE,NM_015004.3:p.Val274Leu/c.820G>C,Gtg/Ctg,MODERATE,,0.705871,0.9008,rs6794,1(T),"0.0,0.0(B,B)",-3.02(N),-0.9793(T),,chr3,45052775,45052775,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val274Leu/c.820G>C|291|EXOSC7|protein_coding|CODING|NM_015004.3|8|1),non_coding_exon_variant(MODIFIER|||n.652G>C||EXOSC7||CODING|NR_023353.1|6|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Max,HSMM:H3K27ac,NHEK:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,CD4:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,NHEK:H3K4me2,HUVEC:H3K27ac,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.7628,0.6239,0.4841,0.57,0.68,0.51,,0.000000(N),0.000(P),1.32(T),0.0000(T),0.128,-1.965217,6.04,2.93,-2.319000,0.170000,0.951000,0.006000,0.001000,0.422000,4.791
missense_variant,CLEC3B,MISSENSE,NM_003278.2:p.Gly106Ser/c.316G>A,Ggc/Agc,MODERATE,COSM3760111(3),0.563498,0.8591,rs13963,0.32(T),0.101(B),-0.385(N),-1.0808(T),,chr3,45077123,45077123,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly106Ser/c.316G>A|202|CLEC3B|protein_coding|CODING|NM_003278.2|3|1),"H1ESC:H3K36me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7014,0.5144,0.3817,0.40,0.39,0.41,,0.002366(N),0.000(P),"2.23,2.23(T,T)",0.0000(T),0.064,1.076946,4.53,-0.0541,-0.258000,0.121000,1.497000,0.395000,0.996000,1.000000,8.7078
missense_variant,CDCP1,MISSENSE,NM_022842.4:p.Asp709Gly/c.2126A>G,gAc/gGc,MODERATE,,0.929313,1,rs9874077,1(T),0.0(B),-2.015(N),-0.9553(T),,chr3,45127515,45127515,T,C,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp709Gly/c.2126A>G|836|CDCP1|protein_coding|CODING|NM_022842.4|9|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9741,0.996,0.93,0.79,1.00,,0.008577(N),0.992(P),2.05(T),0.0000(T),0.059,-1.774161,5.82,5.82,-0.213000,1.485000,0.427000,0.005000,0.192000,0.541000,11.3532
synonymous_variant,TMEM158,SILENT,NM_015444.2:p.Thr154Thr/c.462C>T,acC/acT,LOW,COSM4158049(3),0.309105,0.3542,rs33750,,,,,,chr3,45267058,45267058,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr154Thr/c.462C>T|300|TMEM158|protein_coding|CODING|NM_015444.2|1|1),"K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.3057,0.3285,0.5179,,,,,,,,,,,,,,,,,,,
synonymous_variant,TMEM158,SILENT,NM_015444.2:p.Ala70Ala/c.210G>A,gcG/gcA,LOW,COSM3749835(1),0.653754,0.8423,rs41118,,,,,,chr3,45267310,45267310,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala70Ala/c.210G>A|300|TMEM158|protein_coding|CODING|NM_015444.2|1|1),"K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7812,0.7723,0.8091,,,,,,,,,,,,,,,,,,,
missense_variant,TMEM158,MISSENSE,NM_015444.2:p.Ala67Thr/c.199G>A,Gcg/Acg,MODERATE,,0.644968,0.8423,rs395917,0.12(T),,,-1.0148(T),,chr3,45267321,45267321,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala67Thr/c.199G>A|300|TMEM158|protein_coding|CODING|NM_015444.2|1|1),"K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7812,0.7695,0.8091,,,,,,0.990(P),,0.0000(T),0.106,0.247919,1.79,0.626,0.064000,1.009000,-0.111000,0.379000,0.940000,0.031000,8.4763
missense_variant,LARS2,MISSENSE,NM_015340.3:p.His324Gln/c.972C>A,caC/caA,MODERATE,,0.0103834,0,rs71645922,0.03(D),"0.057,0.057(B,B)",0.145(N),-1.0663(T),,chr3,45518073,45518073,C,A,het,missense_variant(MODERATE|MISSENSE|caC/caA|p.His324Gln/c.972C>A|903|LARS2|protein_coding|CODING|NM_015340.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0144,0.0338,0.03,0.01,0.03,,0.297431(N),0.994(N),"2.03,2.03,2.03(T,T,T)",0.0076(T),0.083,0.744315,5.45,3.63,0.563000,2.555000,0.637000,0.751000,0.962000,0.272000,9.3094
synonymous_variant,LARS2,SILENT,NM_015340.3:p.Leu351Leu/c.1053T>C,ctT/ctC,LOW,,0.782947,0.9782,rs7610357,,,,,,chr3,45527218,45527218,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu351Leu/c.1053T>C|903|LARS2|protein_coding|CODING|NM_015340.3|11|1),intron_variant(MODIFIER|||n.518-1695A>G||LARS2-AS1||NON_CODING|NR_048543.1|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9264,0.9092,0.9423,0.77,0.44,0.95,,,,,,,,,,,,,,,,
synonymous_variant,LARS2,SILENT,NM_015340.3:p.Ala485Ala/c.1455G>A,gcG/gcA,LOW,COSM4158050(1),0.782748,0.9782,rs2128361,,,,,,chr3,45533224,45533224,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala485Ala/c.1455G>A|903|LARS2|protein_coding|CODING|NM_015340.3|13|1),intron_variant(MODIFIER|||n.517+3512C>T||LARS2-AS1||NON_CODING|NR_048543.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.9264,0.9092,0.9423,0.77,0.44,0.95,,,,,,,,,,,,,,,,
missense_variant,LARS2,MISSENSE,NM_015340.3:p.Asp518Asn/c.1552G>A,Gac/Aac,MODERATE,,0.00199681,0,rs116826217,0(D),"1.0,1.0(D,D)",1.95(M),-0.5507(T),,chr3,45537795,45537795,G,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp518Asn/c.1552G>A|903|LARS2|protein_coding|CODING|NM_015340.3|14|1),intron_variant(MODIFIER|||n.261-803C>T||LARS2-AS1||NON_CODING|NR_048543.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0,0.006,0.01,0.00,0.01,,0.000000(D),1.000(D),"0.71,0.71,0.71(T,T,T)",0.2330(T),0.301,5.301336,5.49,5.49,0.650000,2.579000,9.412000,0.966000,0.997000,1.000000,19.3733
synonymous_variant,LARS2,SILENT,NM_015340.3:p.Thr661Thr/c.1983G>A,acG/acA,LOW,COSM3760114(2),0.246206,0.1935,rs11549809,,,,,,chr3,45557707,45557707,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr661Thr/c.1983G>A|903|LARS2|protein_coding|CODING|NM_015340.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.272,0.2536,0.332,0.28,0.22,0.32,,,,,,,,,,,,,,,,
synonymous_variant,LARS2,SILENT,NM_015340.3:p.Ala723Ala/c.2169T>C,gcT/gcC,LOW,,0.849441,1,rs2170549,,,,,,chr3,45559519,45559519,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala723Ala/c.2169T>C|903|LARS2|protein_coding|CODING|NM_015340.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9663,0.9452,0.992,0.85,0.58,0.99,,,,,,,,,,,,,,,,
synonymous_variant,LARS2,SILENT,NM_015340.3:p.Val786Val/c.2358A>G,gtA/gtG,LOW,,0.860823,1,rs267220,,,,,,chr3,45565554,45565554,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val786Val/c.2358A>G|903|LARS2|protein_coding|CODING|NM_015340.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9663,0.9481,0.996,0.87,0.62,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LIMD1,SILENT,NM_014240.2:p.Thr294Thr/c.882C>T,acC/acT,LOW,COSM446566(2),0.685104,0.9345,rs267237,,,,,,chr3,45637253,45637253,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr294Thr/c.882C>T|676|LIMD1|protein_coding|CODING|NM_014240.2|1|1),"CD4:H3K9me1,HepG2:H3K4me2,IMR90:H3K9ac,GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,IMR90:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.7157,0.6542,0.5497,0.58,0.60,0.57,,,,,,,,,,,,,,,,
synonymous_variant,LIMD1,SILENT,NM_014240.2:p.Gly356Gly/c.1068T>C,ggT/ggC,LOW,COSM4158052(1),0.735823,0.9345,rs267236,,,,,,chr3,45637439,45637439,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly356Gly/c.1068T>C|676|LIMD1|protein_coding|CODING|NM_014240.2|1|1),"HepG2:H3K4me2,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,GM12878:H3K36me3,IMR90:H3K4me2,GM12878:H3K79me2,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,IMR90:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1",,,,0.7372,0.6859,0.5915,0.66,0.72,0.62,,,,,,,,,,,,,,,,
synonymous_variant,SACM1L,SILENT,NM_014016.3:p.Pro180Pro/c.540A>G,ccA/ccG,LOW,COSM4002699(1),0.13738,0.12,rs2271619,,,,,,chr3,45754685,45754685,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro180Pro/c.540A>G|587|SACM1L|protein_coding|CODING|NM_014016.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.092,0.1138,0.1203,0.15,0.20,0.13,,,,,,,,,,,,,,,,
missense_variant,SACM1L,MISSENSE,NM_014016.3:p.Tyr434Phe/c.1301A>T,tAc/tTc,MODERATE,COSM149368(3),0.548323,0.3958,rs1468542,1(T),"0.001,0.001(B,B)",-0.48(N),-0.9849(T),,chr3,45779136,45779136,A,T,het,missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr434Phe/c.1301A>T|587|SACM1L|protein_coding|CODING|NM_014016.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.411,0.5706,0.6849,0.65,0.63,0.66,,0.000001(D),0.000(P),"2.0,2.0,2.0,2.0(T,T,T,T)",0.0000(T),0.296,0.427520,6.06,6.06,0.528000,2.322000,5.805000,0.991000,1.000000,1.000000,16.6127
synonymous_variant,SLC6A20,SILENT,NM_020208.3:p.Cys139Cys/c.417T>C,tgT/tgC,LOW,,0.948882,0.9107,rs758386,,,,,,chr3,45817418,45817418,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys139Cys/c.417T>C|592|SLC6A20|protein_coding|CODING|NM_020208.3|4|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys139Cys/c.417T>C|555|SLC6A20|protein_coding|CODING|NM_022405.3|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",Immune_reponse_to_smallpox_secreted_TNF_alpha,,,0.9315,0.9769,0.9543,0.96,0.97,0.96,,,,,,,,,,,,,,,,
synonymous_variant,FYCO1,SILENT,NM_024513.3:p.Leu1308Leu/c.3924C>T,ctC/ctT,LOW,,0.867212,0.9544,rs1463680,,,,-1.0304(T),,chr3,45996761,45996761,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1308Leu/c.3924C>T|1478|FYCO1|protein_coding|CODING|NM_024513.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8783,0.8401,0.7435,0.77,0.87,0.72,,,0.000(P),,0.0000(T),.,0.776982,5.82,-5.97,-0.254000,-0.777000,-0.921000,0.764000,0.137000,0.097000,9.4543
missense_variant,FYCO1,MISSENSE,NM_024513.3:p.Ala679Val/c.2036C>T,gCg/gTg,MODERATE,COSM3760117(1),0.395168,0.6607,rs3796375,0.24(T),"0.41,0.356(B,B)",1.79(L),-0.9787(T),,chr3,46008790,46008790,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala679Val/c.2036C>T|1478|FYCO1|protein_coding|CODING|NM_024513.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3722,0.5648,0.4314,0.33,0.14,0.43,,0.000338(N),0.000(P),"2.03,2.03(T,T)",0.0000(T),0.092,2.711650,5.53,3.55,0.655000,1.331000,2.820000,0.819000,0.871000,0.998000,6.1101
missense_variant,FYCO1,MISSENSE,NM_024513.3:p.Gly321Ala/c.962G>C,gGc/gCc,MODERATE,COSM4158060(1),0.532947,0.6667,rs3733100,1(T),"0.0,0.0(B,B)",-2.015(N),-0.9458(T),,chr3,46009864,46009864,C,G,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly321Ala/c.962G>C|1478|FYCO1|protein_coding|CODING|NM_024513.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7311,0.6427,0.5557,0.44,0.25,0.54,,0.000179(N),0.000(P),"2.22,2.22(T,T)",0.0000(T),0.035,-1.151688,5.66,3.84,-0.815000,0.750000,1.625000,0.335000,1.000000,0.204000,7.6507
missense_variant,FYCO1,MISSENSE,NM_024513.3:p.Arg250Gln/c.749G>A,cGg/cAg,MODERATE,,0.928115,1,rs4683158,1(T),"0.0,0.0(B,B)",-2.125(N),-0.9660(T),,chr3,46010077,46010077,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg250Gln/c.749G>A|1478|FYCO1|protein_coding|CODING|NM_024513.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9223,0.9135,0.8012,0.83,0.94,0.77,,0.000201(N),0.000(P),"2.29,2.24(T,T)",0.0000(T),0.079,2.325366,5.45,5.45,-0.360000,0.902000,2.190000,0.985000,1.000000,1.000000,10.1272
synonymous_variant,FYCO1,SILENT,NM_024513.3:p.Arg89Arg/c.267C>A,cgC/cgA,LOW,,0.762979,1,rs4682801,,,,,,chr3,46021218,46021218,G,T,hom,synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg89Arg/c.267C>A|1478|FYCO1|protein_coding|CODING|NM_024513.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM12878:SP1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,,,0.9213,0.8689,0.7972,0.66,0.44,0.77,,,,,,,,,,,,,,,,
synonymous_variant,CCR2,SILENT,NM_001123041.2:p.Asn260Asn/c.780T>C,aaT/aaC,LOW,,0.328474,0.3185,rs1799865,,,,,,chr3,46399798,46399798,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn260Asn/c.780T>C|374|CCR2|protein_coding|CODING|NM_001123041.2|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn260Asn/c.780T>C|360|CCR2|protein_coding|CODING|NM_001123396.1|2|1)","GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3722,0.3415,0.3072,0.33,0.34,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CCRL2,SILENT,NM_001130910.1:p.Gly148Gly/c.444A>C,ggA/ggC,LOW,COSM3760121(1),0.33766,0.5605,rs11266744,,,,,,chr3,46449978,46449978,A,C,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly148Gly/c.444A>C|356|CCRL2|protein_coding|CODING|NM_001130910.1|2|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly136Gly/c.408A>C|344|CCRL2|protein_coding|CODING|NM_003965.4|2|1),upstream_gene_variant(MODIFIER||1428|||LOC102724297||NON_CODING|NR_125406.1||1)","HSMM:H3K27ac,K562:H3K4me1,HSMM:H3K4me2,HUVEC:H3K9ac,HUVEC:H3K4me2,NHEK:H3K27me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.41,0.3703,0.4026,0.30,0.09,0.40,,,,,,,,,,,,,,,,
missense_variant,CCRL2,MISSENSE,NM_001130910.1:p.Phe179Tyr/c.536T>A,tTc/tAc,MODERATE,COSM3760122(1),0.348842,0.5615,rs3204849,0(D),"0.142,0.286(B,B)",2.05(M),-1.0095(T),,chr3,46450070,46450070,T,A,het,"missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe179Tyr/c.536T>A|356|CCRL2|protein_coding|CODING|NM_001130910.1|2|1),missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe167Tyr/c.500T>A|344|CCRL2|protein_coding|CODING|NM_003965.4|2|1),upstream_gene_variant(MODIFIER||1520|||LOC102724297||NON_CODING|NR_125406.1||1)","HSMM:H3K27ac,K562:H3K4me1,HSMM:H3K4me2,HUVEC:H3K9ac,HUVEC:H3K4me2,NHEK:H3K27me3,HUVEC:H3K4me1,HepG2:H3K27me3",,,,0.408,0.379,0.3996,0.31,0.13,0.39,,0.122158(N),1.000(P),"1.16,1.16,1.16,1.16,1.16(T,T,T,T,T)",0.0000(T),0.351,2.766215,5.4,-7.81,-0.619000,-1.990000,0.295000,0.002000,0.000000,0.000000,3.5343
missense_variant,LTF,MISSENSE,NM_002343.4:p.Glu579Asp/c.1737G>C,gaG/gaC,MODERATE,,0.277157,0.3661,rs2073495,0.38(T),"0.005,0.003,0.005(B,B,B)",0.905(L),-0.9809(T),,chr3,46480958,46480958,C,G,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu535Asp/c.1605G>C|666|LTF|protein_coding|CODING|NM_001199149.1|15|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu579Asp/c.1737G>C|710|LTF|protein_coding|CODING|NM_002343.4|15|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.3824,0.3501,0.3221,0.26,0.10,0.34,,0.134621(N),1.000(P),"3.21,3.21,3.21,3.21(T,T,T,T)",0.0000(T),0.112,0.529868,5.16,-10.3,-0.984000,-3.002000,-4.284000,0.223000,0.000000,0.000000,5.8011
missense_variant,LRRC2,MISSENSE,NM_024512.4:p.Ala145Glu/c.434C>A,gCg/gAg,MODERATE,,0.286542,0.2768,rs17078944,0.49(T),0.002(B),0.49(N),-0.9232(T),,chr3,46580591,46580591,G,T,het,missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala145Glu/c.434C>A|371|LRRC2|protein_coding|CODING|NM_024512.4|4|1),"CD4:CBP,CD4:H3K18ac,GM12878:Pax5,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,CD4:H2BK20ac,GM12878:ETS1,GM12878:MEF2C,GM12878:Jund,CD4:H3K27ac,GM12878:SP1,GM12878:ZEB1,GM12878:Cjun,IMR90:H3K36me3,GM12878:p300,HUVEC:H3K4me2,GM12878:MEF2A,GM12878:IRF4,CD4:H3K36ac,GM12878:BCL11A,CD4:H4K5ac,CD4:H3K4ac,HUVEC:H3K4me1,CD4:H2BK120ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12,CD4:H2BK12ac",,,,0.4519,0.2622,0.3718,0.27,0.15,0.34,,0.252392(N),1.000(P),"0.96,0.96(T,T)",0.0000(T),0.07,-0.350518,5.09,1.79,0.650000,0.654000,2.517000,0.806000,0.221000,0.969000,6.0349
missense_variant,TDGF1,MISSENSE,NM_003212.3:p.Val22Ala/c.65T>C,gTc/gCc,MODERATE,COSM3760126(1),0.506989,0.4157,rs11130097,1(T),0.0(B),-1.155(N),-0.9251(T),,chr3,46620614,46620614,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val6Ala/c.17T>C|172|TDGF1|protein_coding|CODING|NM_001174136.1|2|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val22Ala/c.65T>C|188|TDGF1|protein_coding|CODING|NM_003212.3|2|1)","H1ESC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:FOXA2,IMR90:H3K27me3,K562:PU1,K562:SP1",,,,0.591,0.4942,0.5497,0.52,0.49,0.53,,0.277248(N),1.000(P),"0.21,0.23(T,T)",0.0000(T),0.036,-2.153231,4.17,1.43,-0.735000,0.064000,-0.226000,0.197000,0.003000,0.000000,6.6908
missense_variant,LOC100132146,MISSENSE,NM_001195442.1:p.His33Arg/c.98A>G,cAt/cGt,MODERATE,,0.938099,1,rs9832679,,,,,,chr3,46658737,46658737,A,G,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His33Arg/c.98A>G|89|LOC100132146|protein_coding|CODING|NM_001195442.1|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.9969,0.9841,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,ALS2CL,SILENT,NM_001190707.1:p.Thr867Thr/c.2601G>C,acG/acC,LOW,COSM3760127(1),0.250399,0.38,rs7625303,,,,,,chr3,46713457,46713457,C,G,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr867Thr/c.2601G>C|953|ALS2CL|protein_coding|CODING|NM_001190707.1|24|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr867Thr/c.2601G>C|953|ALS2CL|protein_coding|CODING|NM_147129.3|24|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr214Thr/c.642G>C|300|ALS2CL|protein_coding|CODING|NM_182775.2|9|1),non_coding_exon_variant(MODIFIER|||n.2974G>C||ALS2CL||CODING|NR_033815.1|24|1)","GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2536,0.2968,0.2197,0.20,0.16,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ALS2CL,SILENT,NM_001190707.1:p.His381His/c.1143C>T,caC/caT,LOW,COSM4158065(2),0.313099,0.3383,rs4683310,,,,,,chr3,46723551,46723551,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His381His/c.1143C>T|953|ALS2CL|protein_coding|CODING|NM_001190707.1|11|1),synonymous_variant(LOW|SILENT|caC/caT|p.His381His/c.1143C>T|953|ALS2CL|protein_coding|CODING|NM_147129.3|11|1),non_coding_exon_variant(MODIFIER|||n.1230C>T||ALS2CL||CODING|NR_033815.1|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.4029,0.4063,0.4205,0.34,0.16,0.43,,,,,,,,,,,,,,,,
missense_variant,ALS2CL,MISSENSE,NM_001190707.1:p.Glu45Gln/c.133G>C,Gag/Cag,MODERATE,COSM4158068(1),0.448482,0.3046,rs7642448,0.17(T),0.69(P),1.04(L),-0.9547(T),,chr3,46729757,46729757,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu45Gln/c.133G>C|953|ALS2CL|protein_coding|CODING|NM_001190707.1|3|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu45Gln/c.133G>C|953|ALS2CL|protein_coding|CODING|NM_147129.3|3|1),non_coding_exon_variant(MODIFIER|||n.220G>C||ALS2CL||CODING|NR_033815.1|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3793,0.3991,0.3161,0.42,0.64,0.31,,0.001379(N),0.000(P),"0.47,0.47(T,T)",0.0000(T),0.099,1.703594,4.36,4.36,0.591000,2.413000,3.504000,0.182000,0.643000,0.845000,12.5671
synonymous_variant,PTH1R,SILENT,NM_000316.2:p.Asn463Asn/c.1389T>C,aaT/aaC,LOW,COSM149372(1),0.643371,0.4425,rs1138518,,,,,,chr3,46944274,46944274,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn463Asn/c.1389T>C|593|PTH1R|protein_coding|CODING|NM_000316.2|15|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn463Asn/c.1389T>C|593|PTH1R|protein_coding|CODING|NM_001184744.1|14|1)","H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.6043,0.6513,0.6431,0.68,0.80,0.62,,,,,,,,,,,,,,,,
synonymous_variant,CCDC12,SILENT,NM_144716.5:p.Ala16Ala/c.48A>G,gcA/gcG,LOW,,0.940296,1,rs936181,,,,,,chr3,47018214,47018214,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala3Ala/c.9A>G|166|CCDC12|protein_coding|CODING|NM_001277074.1|1|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala16Ala/c.48A>G|179|CCDC12|protein_coding|CODING|NM_144716.5|2|1),upstream_gene_variant(MODIFIER||223|||CCDC12||CODING|NR_102269.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,K562:FAIRE,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,HUVEC:FAIRE,HepG2:H3K9ac,CD4:PolII,GM12878:Cfos,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,1,0.9755,0.998,0.94,0.81,1.00,,,,,,,,,,,,,,,,
missense_variant,NBEAL2,MISSENSE,NM_015175.2:p.Arg511Gly/c.1531C>G,Cgc/Ggc,MODERATE,COSM446600(3),0.316693,0.3383,rs11720139,0.32(T),"0.066,0.041(B,B)",0.69(N),-0.9102(T),,chr3,47036756,47036756,C,G,het,missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg511Gly/c.1531C>G|2754|NBEAL2|protein_coding|CODING|NM_015175.2|13|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3712,0.3141,0.3936,0.31,0.20,0.36,,0.007232(N),0.000(P),"1.41,1.41(T,T)",0.0000(T),0.176,0.187024,4.54,4.54,0.655000,2.506000,1.491000,0.094000,0.870000,0.414000,11.5906
synonymous_variant,NBEAL2,SILENT,NM_015175.2:p.Ser1637Ser/c.4911C>T,tcC/tcT,LOW,COSM446604(2),0.471645,0.5387,rs2305634,,,,-0.9278(T),,chr3,47043538,47043538,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1637Ser/c.4911C>T|2754|NBEAL2|protein_coding|CODING|NM_015175.2|31|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5644,0.5216,0.5865,0.45,0.27,0.54,,,1.000(P),,0.0000(T),.,-1.151030,4.62,-5.57,-0.145000,-1.080000,-1.477000,0.150000,0.000000,0.000000,3.3322
synonymous_variant,NBEAL2,SILENT,NM_015175.2:p.Val1665Val/c.4995G>A,gtG/gtA,LOW,COSM3760130(1),0.320088,0.3373,rs2305635,,,,-0.9358(T),,chr3,47043622,47043622,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1665Val/c.4995G>A|2754|NBEAL2|protein_coding|CODING|NM_015175.2|31|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3701,0.317,0.3926,0.33,0.23,0.38,,,0.000(P),,0.0000(T),.,0.460666,4.49,1.71,-0.263000,0.168000,0.763000,0.750000,0.996000,1.000000,4.6581
synonymous_variant,NBEAL2,SILENT,NM_015175.2:p.Pro2018Pro/c.6054C>G,ccC/ccG,LOW,COSM4158075(1),0.472045,0.5387,rs1079276,0.13(T),,,-0.8796(T),,chr3,47045739,47045739,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro2018Pro/c.6054C>G|2754|NBEAL2|protein_coding|CODING|NM_015175.2|37|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5644,0.5245,0.5865,0.47,0.28,0.57,,0.555013(N),1.000(P),0.34(T),0.0000(T),.,-1.429707,4.5,3.54,0.491000,1.242000,0.120000,0.093000,0.428000,0.000000,12.1995
missense_variant,SETD2,MISSENSE,NM_014159.6:p.Pro1962Leu/c.5885C>T,cCc/cTc,MODERATE,COSM149376(1),0.469848,0.5327,rs4082155,0.6(T),"0.002,0.001(B,B)",0.345(N),-0.9465(T),,chr3,47125385,47125385,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1962Leu/c.5885C>T|2564|SETD2|protein_coding|CODING|NM_014159.6|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.5706,0.5187,0.5825,0.47,0.29,0.57,,0.654637(N),0.090(P),1.98(T),0.0000(T),0.195,1.669445,5.69,2.94,-0.145000,0.333000,0.529000,0.925000,0.986000,0.764000,5.2839
synonymous_variant,SETD2,SILENT,NM_014159.6:p.Asn1155Asn/c.3465T>C,aaT/aaC,LOW,,0.678315,0.6577,rs6767907,,,,,,chr3,47162661,47162661,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1155Asn/c.3465T>C|2564|SETD2|protein_coding|CODING|NM_014159.6|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6278,0.6816,0.6074,0.64,0.75,0.59,,,,,,,,,,,,,,,,
missense_variant,KIF9,MISSENSE,NM_001134878.1:p.Arg638Trp/c.1912C>T,Cgg/Tgg,MODERATE,COSM149379(1),0.560104,0.5357,rs2276853,0.03(D),"0.785,0.77(P,P)",1.955(M),-0.8923(T),,chr3,47282303,47282303,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg638Trp/c.1912C>T|790|KIF9|protein_coding|CODING|NM_001134878.1|18|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg573Trp/c.1717C>T|725|KIF9|protein_coding|CODING|NM_022342.4|16|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg638Trp/c.1912C>T|790|KIF9|protein_coding|CODING|NM_182902.3|17|1),intron_variant(MODIFIER|||n.1402+619G>A||KIF9-AS1||NON_CODING|NR_033373.1|6|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6166,0.5504,0.5994,0.56,0.52,0.59,,0.000002(D),0.000(P),"0.57,0.57,0.57,0.57,0.57(T,T,T,T,T)",0.0000(T),0.489,3.710110,6.06,1.97,0.651000,0.398000,0.807000,0.923000,0.655000,0.573000,9.2321
synonymous_variant,PTPN23,SILENT,NM_015466.2:p.Thr329Thr/c.987T>C,acT/acC,LOW,,0.953874,1,rs900688,,,,,,chr3,47449058,47449058,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr329Thr/c.987T>C|1636|PTPN23|protein_coding|CODING|NM_015466.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9798,0.998,0.95,0.85,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PTPN23,SILENT,NM_015466.2:p.Pro933Pro/c.2799G>A,ccG/ccA,LOW,COSM4158089(1),0.954872,1,rs386480430,,,,,,chr3,47452087,47452087,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro933Pro/c.2799G>A|1636|PTPN23|protein_coding|CODING|NM_015466.2|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9813,0.998,0.95,0.86,1.00,,,,,,,,,,,,,,,,
missense_variant,PTPN23,MISSENSE,NM_015466.2:p.Ala944Thr/c.2830G>A,Gca/Aca,MODERATE,COSM3760134(3),0.345248,0.4028,rs6780013,0.63(T),"0.0,0.0(B,B)",-0.345(N),-0.9724(T),,chr3,47452118,47452118,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala944Thr/c.2830G>A|1636|PTPN23|protein_coding|CODING|NM_015466.2|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3885,0.3242,0.3817,0.35,0.26,0.39,,0.313048(N),1.000(P),4.31(T),0.0000(T),0.022,-1.717369,4.35,-5.83,-0.455000,-0.466000,-0.939000,0.267000,0.000000,0.000000,5.8113
synonymous_variant,PTPN23,SILENT,NM_015466.2:p.Glu1166Glu/c.3498G>A,gaG/gaA,LOW,COSM1423596(2),0.458866,0.4633,rs1531875,,,,,,chr3,47452786,47452786,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1166Glu/c.3498G>A|1636|PTPN23|protein_coding|CODING|NM_015466.2|20|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5583,0.5202,0.6024,0.49,0.28,0.59,,,,,,,,,,,,,,,,
synonymous_variant,PTPN23,SILENT,NM_015466.2:p.Pro1545Pro/c.4635G>A,ccG/ccA,LOW,COSM4158090(3),0.954673,1,rs6789730,,,,,,chr3,47454399,47454399,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1545Pro/c.4635G>A|1636|PTPN23|protein_coding|CODING|NM_015466.2|25|1),downstream_gene_variant(MODIFIER||785||1279|SCAP|protein_coding|CODING|NM_012235.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9969,0.9784,0.998,0.95,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,SCAP,MISSENSE,NM_012235.2:p.Val798Ile/c.2392G>A,Gtc/Atc,MODERATE,COSM3760135(3),0.452276,0.4583,rs12487736,0(D),,-0.755(N),-0.9028(T),,chr3,47459679,47459679,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val798Ile/c.2392G>A|1279|SCAP|protein_coding|CODING|NM_012235.2|16|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.5245,0.5905,0.47,0.27,0.57,,,0.018(P),,0.0000(T),.,-0.020663,4.59,3.62,0.556000,2.393000,3.194000,0.192000,0.905000,1.000000,3.9583
synonymous_variant,SCAP,SILENT,NM_012235.2:p.Gly469Gly/c.1407A>G,ggA/ggG,LOW,,0.955072,1,rs900690,,,,,,chr3,47462200,47462200,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly469Gly/c.1407A>G|1279|SCAP|protein_coding|CODING|NM_012235.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9813,0.998,0.95,0.86,1.00,,,,,,,,,,,,,,,,
missense_variant,CSPG5,MISSENSE,NM_001206943.1:p.Gly188Val/c.563G>T,gGg/gTg,MODERATE,,0.521166,0.5992,rs3732530,0.24(T),"0.012,0.005(B,B)",0.205(N),-0.9800(T),,chr3,47618953,47618953,C,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly50Val/c.149G>T|401|CSPG5|protein_coding|CODING|NM_001206942.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly188Val/c.563G>T|566|CSPG5|protein_coding|CODING|NM_001206943.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly188Val/c.563G>T|477|CSPG5|protein_coding|CODING|NM_001206944.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly50Val/c.149G>T|428|CSPG5|protein_coding|CODING|NM_001206945.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly188Val/c.563G>T|539|CSPG5|protein_coding|CODING|NM_006574.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5429,0.4784,0.664,0.57,0.39,0.66,,0.249504(N),0.014(P),"0.93,0.93,0.93(T,T,T)",0.0000(T),0.18,1.509864,3.93,0.844,0.643000,0.429000,0.166000,0.989000,0.922000,0.042000,2.953
missense_variant,MAP4,MISSENSE,NM_002375.4:p.Val628Ile/c.1882G>A,Gtc/Atc,MODERATE,,0.388778,0.2847,rs1137524,0.22(T),"0.017,0.024,0.038(B,B,B)",2.19(M),-0.9560(T),,chr3,47956424,47956424,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val628Ile/c.1882G>A|1135|MAP4|protein_coding|CODING|NM_001134364.1|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val628Ile/c.1882G>A|1152|MAP4|protein_coding|CODING|NM_002375.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3466,0.3963,0.3002,0.39,0.53,0.31,,,1.000(P),"3.1,2.9,3.1(T,T,T)",0.0000(T),0.039,0.409250,4.42,0.416,-1.067000,-0.054000,-0.083000,0.015000,0.014000,0.019000,1.6979
missense_variant,MAP4,MISSENSE,NM_002375.4:p.Ser427Tyr/c.1280C>A,tCc/tAc,MODERATE,COSM4158103(1),0.251797,0.2629,rs1060407,0(D),"0.374,0.151,0.073(B,B,B)",1.795(L),-0.9030(T),,chr3,47958037,47958037,G,T,het,"missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser427Tyr/c.1280C>A|1135|MAP4|protein_coding|CODING|NM_001134364.1|7|1),missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser427Tyr/c.1280C>A|1152|MAP4|protein_coding|CODING|NM_002375.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3078,0.3458,0.2992,0.25,0.13,0.31,,,0.002(P),"3.12,3.05,3.13(T,T,T)",0.0000(T),0.097,2.140525,4.09,4.09,0.561000,2.560000,1.868000,0.006000,0.112000,0.200000,14.6207
missense_variant,ZNF589,MISSENSE,NM_016089.2:p.Thr12Ala/c.34A>G,Act/Gct,MODERATE,COSM446643(4),0.235423,0.121,rs9847953,0.84(T),"0.001,0.0(B,B)",0(N),-0.9440(T),,chr3,48282695,48282695,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr12Ala/c.34A>G|364|ZNF589|protein_coding|CODING|NM_016089.2|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:SIX5,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,GM12878:EBF,K562:E2F6,K562:Cjun,HeLa-S3:PolII,GM12878:TAF1,HepG2:HNF4A,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,K562:E2F4,GM06990:CTCF",,,,0.271,0.2161,0.2913,0.30,0.27,0.31,,,1.000(P),"3.4,4.81,4.75,4.98(T,T,T,T)",0.0000(T),0.063,0.431497,1.32,-1.99,-0.471000,-1.395000,-0.672000,0.000000,0.000000,0.000000,3.5587
missense_variant,ZNF589,MISSENSE,NM_016089.2:p.Thr216Arg/c.647C>G,aCg/aGg,MODERATE,COSM4002717(1),0.255791,0.124,rs11718329,0.45(T),"0.034,0.0(B,B)",0.52(N),-0.9262(T),,chr3,48309828,48309828,C,G,hom,missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr216Arg/c.647C>G|364|ZNF589|protein_coding|CODING|NM_016089.2|4|1),"NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K27ac,CD4:H3K27ac,IMR90:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,CD4:PolII,NHEK:H3K4me2,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.274,0.2219,0.2913,0.31,0.32,0.31,,,1.000(P),3.32(T),0.0000(T),0.027,-1.656907,1.35,-2.69,-1.508000,-2.576000,-0.710000,0.363000,0.000000,0.001000,0.105
missense_variant,SPINK8,MISSENSE,NM_001080525.1:p.Lys78Asn/c.234A>C,aaA/aaC,MODERATE,,0.16853,0.123,rs11718350,0.43(T),0.305(B),,-1.0831(T),,chr3,48360992,48360992,T,G,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys78Asn/c.234A>C|97|SPINK8|protein_coding|CODING|NM_001080525.1|3|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.2751,0.1772,0.2843,0.23,0.06,0.30,,,1.000(P),-0.91(T),0.0000(T),0.039,1.889555,3.58,2.39,0.528000,0.729000,0.234000,0.346000,0.359000,0.002000,6.9836
missense_variant,FBXW12,MISSENSE,NM_207102.2:p.Arg166Trp/c.496C>T,Cgg/Tgg,MODERATE,,0.619409,0.6597,rs6442117,0.03(D),"0.011,0.007,0.005(B,B,B)",0(N),-0.9435(T),,chr3,48419897,48419897,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg147Trp/c.439C>T|445|FBXW12|protein_coding|CODING|NM_001159929.1|5|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg166Trp/c.496C>T|464|FBXW12|protein_coding|CODING|NM_207102.2|6|1),intron_variant(MODIFIER|||c.406-993C>T|394|FBXW12|protein_coding|CODING|NM_001159927.1|5|1)","HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6912,0.6225,0.5298,0.55,0.60,0.53,,0.000067(N),1.000(P),"1.51,-0.05,1.51(T,T,T)",0.0000(T),0.107,1.240004,4.23,-8.47,-2.084000,-3.246000,-1.945000,0.000000,0.000000,0.000000,0.4543
missense_variant,FBXW12,MISSENSE,NM_207102.2:p.Arg166Gln/c.497G>A,cGg/cAg,MODERATE,,0.01877,0,rs79525977,0.35(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0884(T),,chr3,48419898,48419898,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg147Gln/c.440G>A|445|FBXW12|protein_coding|CODING|NM_001159929.1|5|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg166Gln/c.497G>A|464|FBXW12|protein_coding|CODING|NM_207102.2|6|1),intron_variant(MODIFIER|||c.406-992G>A|394|FBXW12|protein_coding|CODING|NM_001159927.1|5|1)","HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0317,0.0616,0.03,0.01,0.05,,0.000067(N),1.000(N),"1.55,0.01,1.55(T,T,T)",0.0112(T),0.056,0.311973,4.23,-8.47,-2.476000,-1.661000,-1.832000,0.000000,0.000000,0.000000,1.2043
missense_variant,FBXW12,MISSENSE,NM_207102.2:p.Val273Asp/c.818T>A,gTt/gAt,MODERATE,COSM4002718(1),0.353834,0.3373,rs6784322,0.39(T),"0.048,0.029,0.013,0.021(B,B,B,B)",-0.695(N),-1.0511(T),,chr3,48422235,48422235,T,A,het,"missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val203Asp/c.608T>A|394|FBXW12|protein_coding|CODING|NM_001159927.1|7|1),missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val254Asp/c.761T>A|445|FBXW12|protein_coding|CODING|NM_001159929.1|7|1),missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val273Asp/c.818T>A|464|FBXW12|protein_coding|CODING|NM_207102.2|8|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3098,0.3703,0.4702,0.43,0.33,0.47,,0.107520(N),1.000(P),"2.05,-0.02,1.63,3.5(T,T,T,T)",0.0000(T),0.081,0.966403,4.38,-6.75,-0.821000,-1.581000,-0.749000,0.001000,0.000000,0.000000,2.7167
synonymous_variant,PLXNB1,SILENT,NM_001130082.2:p.Pro794Pro/c.2382G>C,ccG/ccC,LOW,,0.432308,0.3135,rs2362450,,,,,,chr3,48461313,48461313,C,G,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro794Pro/c.2382G>C|2135|PLXNB1|protein_coding|CODING|NM_001130082.2|11|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro794Pro/c.2382G>C|2135|PLXNB1|protein_coding|CODING|NM_002673.5|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3088,0.3357,0.4652,0.52,0.62,0.48,,,,,,,,,,,,,,,,
synonymous_variant,CCDC51,SILENT,NM_001256964.1:p.Leu269Leu/c.805T>C,Ttg/Ctg,LOW,COSM4002721(2),0.319888,0.3135,rs2279077,,,,,,chr3,48474249,48474249,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu269Leu/c.805T>C|411|CCDC51|protein_coding|CODING|NM_001256964.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu160Leu/c.478T>C|302|CCDC51|protein_coding|CODING|NM_001256965.2|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu160Leu/c.478T>C|302|CCDC51|protein_coding|CODING|NM_001256966.2|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu160Leu/c.478T>C|302|CCDC51|protein_coding|CODING|NM_001256967.2|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu160Leu/c.478T>C|302|CCDC51|protein_coding|CODING|NM_001256968.2|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu160Leu/c.478T>C|302|CCDC51|protein_coding|CODING|NM_001256969.2|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu269Leu/c.805T>C|411|CCDC51|protein_coding|CODING|NM_024661.4|4|1)","NHEK:CTCF,NHEK:H3K27ac,H1ESC:H3K36me3,GM12878:BATF,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1,H1ESC:CTCF",,,,0.3078,0.2882,0.4632,0.40,0.27,0.47,,,,,,,,,,,,,,,,
synonymous_variant,CCDC51,SILENT,NM_001256964.1:p.Leu36Leu/c.108G>C,ctG/ctC,LOW,COSM4158109(1),0.98722,1,rs13062723,,,,,,chr3,48476431,48476431,C,G,hom,"splice_region_variant(LOW|||c.1G>C|302|CCDC51|protein_coding|CODING|NM_001256965.2|1|1),splice_region_variant(LOW|||c.1G>C|302|CCDC51|protein_coding|CODING|NM_001256966.2|1|1),splice_region_variant(LOW|||c.1G>C|302|CCDC51|protein_coding|CODING|NM_001256968.2|1|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu36Leu/c.108G>C|411|CCDC51|protein_coding|CODING|NM_001256964.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu36Leu/c.108G>C|411|CCDC51|protein_coding|CODING|NM_024661.4|2|1),intron_variant(MODIFIER|||c.-209-11G>C|302|CCDC51|protein_coding|CODING|NM_001256967.2|1|1),intron_variant(MODIFIER|||c.-209-11G>C|302|CCDC51|protein_coding|CODING|NM_001256969.2|1|1),intron_variant(MODIFIER|||c.-319-6G>C|302|CCDC51|protein_coding|CODING|NM_001256965.2|1|1),intron_variant(MODIFIER|||c.-214-6G>C|302|CCDC51|protein_coding|CODING|NM_001256966.2|1|1),intron_variant(MODIFIER|||c.-214-6G>C|302|CCDC51|protein_coding|CODING|NM_001256968.2|1|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL7A1,SILENT,NM_000094.3:p.Pro939Pro/c.2817A>G,ccA/ccG,LOW,COSM446657(2),0.68111,0.3948,rs1264194,,,,,,chr3,48625266,48625266,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro939Pro/c.2817A>G|2944|COL7A1|protein_coding|CODING|NM_000094.3|21|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.6462,0.5922,0.7237,0.77,0.90,0.71,,,,,,,,,,,,,,,,
synonymous_variant,CELSR3,SILENT,NM_001407.2:p.Ala3041Ala/c.9123T>A,gcT/gcA,LOW,,0.0139776,0,rs1264195,,,,,,chr3,48677895,48677895,A,T,het,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala3041Ala/c.9123T>A|3312|CELSR3|protein_coding|CODING|NM_001407.2|34|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,HepG2:H3K36me3",,,,0.0061,0.0173,0.0487,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,IP6K2,SILENT,NM_001005909.2:p.Tyr213Tyr/c.639C>T,taC/taT,LOW,,0.73722,0.9484,rs4858798,,,,,,chr3,48727112,48727112,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr213Tyr/c.639C>T|426|IP6K2|protein_coding|CODING|NM_001005909.2|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr213Tyr/c.639C>T|426|IP6K2|protein_coding|CODING|NM_016291.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9254,0.745,0.6521,0.60,0.52,0.63,,,,,,,,,,,,,,,,
missense_variant,ARIH2OS,MISSENSE,NM_001123040.1:p.Val109Ala/c.326T>C,gTt/gCt,MODERATE,COSM3760147(1),0.0103834,0,rs150858838,0(D),0.147(B),0(N),-1.0301(T),,chr3,48956257,48956257,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val109Ala/c.326T>C|290|ARIH2OS|protein_coding|CODING|NM_001123040.1|1|1),upstream_gene_variant(MODIFIER||24||493|ARIH2|protein_coding|CODING|NM_006321.2||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HUVEC:Cmyc,K562:Cjun,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,K562:E2F4",,,,0.0051,0.0144,0.0358,0.02,0.00,0.03,,,1.000(N),,0.0153(T),0.155,0.724380,4.58,-0.69,0.533000,-0.181000,-0.299000,0.066000,0.000000,0.000000,4.0297
missense_variant,DALRD3,MISSENSE,NM_001009996.2:p.Gln299Arg/c.896A>G,cAg/cGg,MODERATE,,0.904952,1,rs3087866,0.86(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9546(T),,chr3,49054692,49054692,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln299Arg/c.896A>G|543|DALRD3|protein_coding|CODING|NM_001009996.2|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln299Arg/c.896A>G|516|DALRD3|protein_coding|CODING|NM_001276405.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln132Arg/c.395A>G|376|DALRD3|protein_coding|CODING|NM_018114.5|5|1),downstream_gene_variant(MODIFIER||1306||1151|WDR6|protein_coding|CODING|NM_018031.3||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9622,0.8646,0.7863,0.80,0.88,0.76,,0.026819(N),1.000(P),"1.2,1.23,1.22,1.15,1.22,1.38(T,T,T,T,T,T)",0.0000(T),0.105,-0.357331,4.97,1.87,-0.246000,-0.042000,0.142000,0.915000,0.420000,0.021000,8.2826
missense_variant,CCDC71,MISSENSE,NM_022903.3:p.Trp339Arg/c.1015T>C,Tgg/Cgg,MODERATE,COSM4158136(2),0.74401,0.9435,rs4955418,0.58(T),0.0(B),0(N),-1.0201(T),,chr3,49200627,49200627,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp339Arg/c.1015T>C|467|CCDC71|protein_coding|CODING|NM_022903.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8988,0.719,0.6461,0.60,0.56,0.62,,0.457767(N),1.000(P),1.66(T),0.0000(T),0.046,-1.976971,4.75,2.87,-0.224000,0.631000,-0.502000,0.013000,0.001000,0.000000,5.0066
missense_variant,CCDC71,MISSENSE,NM_022903.3:p.Gln317Leu/c.950A>T,cAg/cTg,MODERATE,COSM4158137(1),0.710863,0.9395,rs4955419,0.27(T),0.001(B),0.69(N),-1.0773(T),,chr3,49200692,49200692,T,A,hom,missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln317Leu/c.950A>T|467|CCDC71|protein_coding|CODING|NM_022903.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8978,0.7075,0.6451,0.57,0.47,0.62,,,1.000(P),1.55(T),0.0000(T),0.056,-1.692078,3.74,-7.48,-2.851000,-3.298000,-2.681000,0.008000,0.000000,0.000000,8.1181
synonymous_variant,CCDC36,SILENT,NM_001135197.1:p.Ser24Ser/c.72C>T,tcC/tcT,LOW,,0.705471,0.9415,rs12631989,,,,,,chr3,49273996,49273996,C,T,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser24Ser/c.72C>T|594|CCDC36|protein_coding|CODING|NM_001135197.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser24Ser/c.72C>T|594|CCDC36|protein_coding|CODING|NM_178173.3|5|1)",HUVEC:DNase1,,,,0.8988,0.7089,0.6431,0.56,0.45,0.62,,,,,,,,,,,,,,,,
missense_variant,DAG1,MISSENSE,NM_001165928.3:p.Ser14Trp/c.41C>G,tCg/tGg,MODERATE,,0.965855,1,rs2131107,1(T),0.0(B),-1.355(N),-0.9455(T),,chr3,49548008,49548008,C,G,hom,"missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001165928.3|5|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177634.2|5|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177635.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177636.2|4|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177637.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177638.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177639.2|2|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177640.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177641.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177642.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177643.2|2|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_001177644.2|2|1),missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser14Trp/c.41C>G|895|DAG1|protein_coding|CODING|NM_004393.5|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000024443.1,,1,0.9885,0.999,0.97,0.92,1.00,,0.013235(N),1.000(P),"0.94,0.98,0.94,0.94,0.94,0.94,0.94,0.99,0.93,1.12,1.04,0.99,0.98(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.475,-1.838202,5.58,4.69,-0.224000,0.697000,2.069000,0.044000,0.998000,1.000000,10.5543
synonymous_variant,BSN,SILENT,NM_003458.3:p.Thr1070Thr/c.3210G>A,acG/acA,LOW,,0.913538,0.9871,rs4855885,,,,,,chr3,49690199,49690199,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1070Thr/c.3210G>A|3926|BSN|protein_coding|CODING|NM_003458.3|5|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9632,0.8847,0.834,0.84,0.88,0.82,,,,,,,,,,,,,,,,
missense_variant,BSN,MISSENSE,NM_003458.3:p.Ala3863Thr/c.11587G>A,Gca/Aca,MODERATE,COSM1179807(2),0.640375,0.9325,rs2005557,1(T),0.0(B),0.345(N),-0.9509(T),,chr3,49701298,49701298,G,A,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala3863Thr/c.11587G>A|3926|BSN|protein_coding|CODING|NM_003458.3|8|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7638,0.683,0.5099,0.49,0.43,0.52,,0.955199(N),1.000(P),2.25(T),0.0000(T),0.014,0.322360,3.43,1.26,-0.521000,0.010000,0.707000,0.385000,0.580000,0.019000,1.03
stop_gained,MST1,NONSENSE,NM_020998.3:p.Arg651*/c.1951C>T,Cga/Tga,HIGH,,0.00479233,0,rs142690032,,,,-1.0103(T),MST1:1.00(1);MST1:1.00(1);,chr3,49721812,49721812,G,A,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg651*/c.1951C>T|725|MST1|protein_coding|CODING|NM_020998.3|17|1),downstream_gene_variant(MODIFIER||878||732|APEH|protein_coding|CODING|NM_001640.3||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HepG2:PolII,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.0112,0.0043,0.0089,0.01,0.00,0.01,,,1.000(D),,0.0868(T),.,3.564456,5.59,5.59,0.655000,2.621000,3.489000,0.987000,1.000000,1.000000,14.4305
synonymous_variant,MST1,SILENT,NM_020998.3:p.Pro326Pro/c.978G>T,ccG/ccT,LOW,COSM3760150(3),,,rs9713651,,,,,,chr3,49723784,49723784,C,A,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro326Pro/c.978G>T|725|MST1|protein_coding|CODING|NM_020998.3|8|1),"H1ESC:PolII,CD4:H3K9me1,CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,CD4:H4K91ac,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,NHEK:H3K4me2,HSMM:H3K27me3,CD4:H3K4me2,CD4:H2BK120ac,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1,H1ESC:CTCF",,,,,,,0.38,0.30,0.42,,,,,,,,,,,,,,,,
synonymous_variant,MST1,SILENT,NM_020998.3:p.Thr313Thr/c.939T>C,acT/acC,LOW,COSM3824169(2),,,rs7431215,,,,,,chr3,49723823,49723823,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr313Thr/c.939T>C|725|MST1|protein_coding|CODING|NM_020998.3|8|1),"H1ESC:PolII,CD4:H3K9me1,CD4:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,CD4:H4K91ac,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,NHEK:H3K4me2,HSMM:H3K27me3,CD4:H3K4me2,CD4:H2BK120ac,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MST1,SILENT,NM_020998.3:p.Pro153Pro/c.459A>G,ccA/ccG,LOW,,0.860224,0.9871,rs3020779,,,,,,chr3,49724808,49724808,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro153Pro/c.459A>G|725|MST1|protein_coding|CODING|NM_020998.3|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9622,0.8573,0.834,0.79,0.73,0.82,,,,,,,,,,,,,,,,
missense_variant,MST1,MISSENSE,NM_020998.3:p.Pro19Ser/c.55C>T,Cca/Tca,MODERATE,COSM3733861(3),,,rs62262686,0.23(T),"0.702,0.555(P,P)",1.7(L),-0.3904(T),,chr3,49726070,49726070,G,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro19Ser/c.55C>T|725|MST1|protein_coding|CODING|NM_020998.3|1|1),upstream_gene_variant(MODIFIER||880||1314|RNF123|protein_coding|CODING|NM_022064.3||1)","CD4:H4K16ac,HepG2:Gabp,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HepG2:ELF1,CD4:H2BK5ac,HepG2:p300,K562:H3K27ac,HepG2:Sin3Ak20,CD4:H4K91ac,CD4:H2BK20ac,K562:H3K4me1,H1ESC:H3K27me3,CD4:H4K8ac,HepG2:H3K27ac,CD4:H3K27ac,HepG2:PolII,CD4:H2AK9ac,HepG2:SP1,HepG2:HNF4G,HepG2:HEY1,K562:H3K9ac,HepG2:HNF4A,CD4:H3K4me1,HepG2:H3K4me3,HepG2:FOSL2,CD4:H4K5ac,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HepG2:FAIRE,CD4:H2BK120ac,HepG2:H3K27me3,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,HepG2:Cmyc,K562:DNase1",,,,,,,,,,,0.160900(N),1.000(N),"-2.17,0.86(D,T)",0.5423(D),0.185,1.160641,3.75,-0.229,-0.258000,-0.051000,1.045000,0.425000,0.907000,0.838000,3.5806
synonymous_variant,RNF123,SILENT,NM_022064.3:p.Val433Val/c.1299C>T,gtC/gtT,LOW,COSM4002726(1),0.238219,0.1518,rs6804655,,,,,,chr3,49738945,49738945,C,T,hom,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val433Val/c.1299C>T|1314|RNF123|protein_coding|CODING|NM_022064.3|16|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.319,0.2017,0.3091,0.27,0.21,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RNF123,SILENT,NM_022064.3:p.Asp996Asp/c.2988C>T,gaC/gaT,LOW,COSM1424005(2),0.250399,0.1538,rs2291542,,,,,,chr3,49751585,49751585,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp996Asp/c.2988C>T|1314|RNF123|protein_coding|CODING|NM_022064.3|31|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.319,0.2061,0.3091,0.28,0.25,0.30,,,,,,,,,,,,,,,,
missense_variant,GMPPB,MISSENSE,NM_013334.3:p.Gln184Arg/c.551A>G,cAg/cGg,MODERATE,,0.989018,1,rs1466685,0.08(T),"0.001,0.0(B,B)",0.05(N),-0.9024(T),,chr3,49760039,49760039,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln184Arg/c.551A>G|387|GMPPB|protein_coding|CODING|NM_013334.3|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln184Arg/c.551A>G|360|GMPPB|protein_coding|CODING|NM_021971.2|5|1),downstream_gene_variant(MODIFIER||1077||1314|RNF123|protein_coding|CODING|NM_022064.3||1),downstream_gene_variant(MODIFIER||1689||276|IP6K1|protein_coding|CODING|NM_001006115.2||1),downstream_gene_variant(MODIFIER||1689||441|IP6K1|protein_coding|CODING|NM_001242829.1||1),downstream_gene_variant(MODIFIER||1689||441|IP6K1|protein_coding|CODING|NM_153273.3||1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.97,1.00,,0.595385(N),0.000(P),"-3.29,-3.29,-3.29(D,D,D)",0.0000(T),0.07,1.114316,4.8,-2.63,-1.212000,-0.774000,-0.877000,0.906000,0.938000,0.000000,13.8053
synonymous_variant,CDHR4,SILENT,NM_001007540.2:p.Ala71Ala/c.213C>T,gcC/gcT,LOW,COSM1424032(2),0.233227,0.1488,rs7629936,,,,,,chr3,49836707,49836707,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala71Ala/c.213C>T|788|CDHR4|protein_coding|CODING|NM_001007540.2|2|1),H1ESC:H3K27me3,,,,0.3088,0.1844,0.2386,0.23,0.23,0.23,,,,,,,,,,,,,,,,
synonymous_variant,CAMKV,SILENT,NM_024046.3:p.Asn217Asn/c.651T>C,aaT/aaC,LOW,COSM4158163(1),0.403155,0.1448,rs2681781,,,,,,chr3,49898273,49898273,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn217Asn/c.651T>C|501|CAMKV|protein_coding|CODING|NM_024046.3|8|1),"H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2127,0.3703,0.4911,0.54,0.63,0.50,,,,,,,,,,,,,,,,
synonymous_variant,CAMKV,SILENT,NM_024046.3:p.Gly9Gly/c.27C>T,ggC/ggT,LOW,COSM4158165(1),0.278954,0.124,rs3796386,,,,,,chr3,49899795,49899795,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly9Gly/c.27C>T|501|CAMKV|protein_coding|CODING|NM_024046.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1605,0.3141,0.4145,0.40,0.36,0.42,,,,,,,,,,,,,,,,
missense_variant,MST1R,MISSENSE,NM_002447.2:p.Arg1335Gly/c.4003A>G,Aga/Gga,MODERATE,COSM3736321(1),0.419129,0.1438,rs1062633,0.31(T),0.0(B),0.645(N),-0.9690(T),,chr3,49924940,49924940,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg1286Gly/c.3856A>G|1351|MST1R|protein_coding|CODING|NM_001244937.1|19|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg1335Gly/c.4003A>G|1400|MST1R|protein_coding|CODING|NM_002447.2|20|1)","HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.2127,0.3761,0.498,0.56,0.67,0.51,,0.273810(N),1.000(P),"-1.68,-1.68(D,D)",0.0000(T),0.064,-1.688274,5.91,-4.24,-0.119000,-1.356000,-3.031000,0.029000,0.000000,0.000000,4.1631
missense_variant,MST1R,MISSENSE,NM_002447.2:p.Ser1195Gly/c.3583A>G,Agc/Ggc,MODERATE,,1,1,rs7433231,1(T),0.0(B),-3.455(N),-0.9484(T),,chr3,49928691,49928691,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1146Gly/c.3436A>G|1351|MST1R|protein_coding|CODING|NM_001244937.1|16|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1195Gly/c.3583A>G|1400|MST1R|protein_coding|CODING|NM_002447.2|17|1)","HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,1,1,1,,,,,0.000000(N),0.983(P),"2.23,2.23(T,T)",0.0000(T),0.588,0.682202,5.07,5.07,-0.131000,1.275000,5.973000,0.590000,0.840000,1.000000,14.0545
missense_variant,MST1R,MISSENSE,NM_002447.2:p.Gln523Arg/c.1568A>G,cAa/cGa,MODERATE,COSM3736324(1),0.416534,0.1429,rs2230590,0.93(T),"0.001,0.003,0.002,0.0(B,B,B,B)",1.065(L),-0.9753(T),,chr3,49936102,49936102,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln523Arg/c.1568A>G|1351|MST1R|protein_coding|CODING|NM_001244937.1|4|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln523Arg/c.1568A>G|1400|MST1R|protein_coding|CODING|NM_002447.2|4|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.2117,0.3761,0.497,0.56,0.67,0.51,,0.107633(N),1.000(P),"1.05,3.01(T,T)",0.0000(T),0.02,-2.227231,5.84,-6.78,-2.395000,-1.703000,-1.163000,0.049000,0.139000,0.000000,7.5474
synonymous_variant,MON1A,SILENT,NM_032355.3:p.Pro264Pro/c.792T>C,ccT/ccC,LOW,COSM446734(1),0.249601,0.122,rs386618054,,,,,,chr3,49949071,49949071,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro264Pro/c.792T>C|652|MON1A|protein_coding|CODING|NM_032355.3|3|1),intron_variant(MODIFIER|||c.419-754T>C|490|MON1A|protein_coding|CODING|NM_001142501.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1616,0.3012,0.4215,0.38,0.27,0.43,,,,,,,,,,,,,,,,
missense_variant,SEMA3F,MISSENSE,NM_004186.3:p.Leu503Met/c.1507T>A,Ttg/Atg,MODERATE,COSM3760153(2),0.765974,0.9871,rs1046956,1(T),"0.004,0.012(B,B)",0.025(N),-0.9675(T),,chr3,50222926,50222926,T,A,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu503Met/c.1507T>A|785|SEMA3F|protein_coding|CODING|NM_004186.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8906,0.7478,0.671,0.63,0.60,0.65,,0.013364(N),1.000(P),"2.8,2.8,2.8(T,T,T)",0.0000(T),0.051,-0.530459,5.16,0.291,-2.372000,-0.356000,1.139000,0.708000,0.987000,0.904000,3.5309
synonymous_variant,IFRD2,SILENT,NM_006764.4:p.Arg24Arg/c.72T>C,cgT/cgC,LOW,COSM329413(7),0.771965,0.7817,rs1076872,,,,,,chr3,50329826,50329826,A,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg24Arg/c.72T>C|506|IFRD2|protein_coding|CODING|NM_006764.4|1|1),downstream_gene_variant(MODIFIER||433||417|HYAL3|protein_coding|CODING|NM_001200029.1||1),downstream_gene_variant(MODIFIER||433||387|HYAL3|protein_coding|CODING|NM_001200030.1||1),downstream_gene_variant(MODIFIER||433||168|HYAL3|protein_coding|CODING|NM_001200031.1||1),downstream_gene_variant(MODIFIER||433||138|HYAL3|protein_coding|CODING|NM_001200032.1||1),downstream_gene_variant(MODIFIER||433||417|HYAL3|protein_coding|CODING|NM_003549.3||1)","GM12878:Cmyc,NHEK:CTCF,NHEK:H3K9ac,CD4:CBP,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,K562:ETS1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,GM12878:ETS1,H1ESC:ATF3,CD4:MOF,HUVEC:H3K9ac,GM12878:SIX5,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ATF3,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.5215,0.8329,0.6809,0.77,0.94,0.70,,,,,,,,,,,,,,,,
synonymous_variant,NAT6,SILENT,NM_012191.3:p.Val160Val/c.480G>A,gtG/gtA,LOW,,0.00479233,0,rs34484133,,,,,,chr3,50334481,50334481,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val138Val/c.414G>A|286|NAT6|protein_coding|CODING|NM_001200018.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val160Val/c.480G>A|308|NAT6|protein_coding|CODING|NM_012191.3|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val138Val/c.414G>A|286|NAT6|protein_coding|CODING|NM_001200016.1|2|1),intron_variant(MODIFIER|||c.2+2163G>A|168|HYAL3|protein_coding|CODING|NM_001200031.1|1|1),intron_variant(MODIFIER|||c.2+2163G>A|138|HYAL3|protein_coding|CODING|NM_001200032.1|1|1),intron_variant(MODIFIER|||c.-17-1431G>A|417|HYAL3|protein_coding|CODING|NM_001200029.1|1|1),intron_variant(MODIFIER|||c.-17-1431G>A|387|HYAL3|protein_coding|CODING|NM_001200030.1|1|1),intron_variant(MODIFIER|||c.-17-1431G>A|417|HYAL3|protein_coding|CODING|NM_003549.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0029,0.006,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,HYAL2,MISSENSE,NM_003773.4:p.Ser18Ala/c.52T>G,Tca/Gca,MODERATE,COSM1162360(4),0.736022,0.7917,rs386607340,1(T),0.0(B),-0.11(N),-0.9499(T),,chr3,50357869,50357869,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser18Ala/c.52T>G|473|HYAL2|protein_coding|CODING|NM_003773.4|2|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser18Ala/c.52T>G|473|HYAL2|protein_coding|CODING|NM_033158.4|3|1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.4458,0.8156,0.6501,0.73,0.88,0.64,,0.001340(N),1.000(P),"2.62,2.62,2.62,2.62,2.04,1.63,1.64,1.64,1.71(T,T,T,T,T,T,T,T,T)",0.0000(T),0.199,1.416274,5.64,3.74,-0.991000,0.878000,0.175000,0.434000,0.977000,0.002000,5.3504
missense_variant,RASSF1,MISSENSE,NM_170714.1:p.Ala137Ser/c.409G>T,Gct/Tct,MODERATE,COSM3760157(1),0.0710863,0.0556,rs2073498,0.37(T),"0.013,0.007,0.004(B,B,B)",0.35(N),-1.0455(T),,chr3,50369546,50369546,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala133Ser/c.397G>T|340|RASSF1|protein_coding|CODING|NM_007182.4|3|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala63Ser/c.187G>T|270|RASSF1|protein_coding|CODING|NM_170713.2|2|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala137Ser/c.409G>T|344|RASSF1|protein_coding|CODING|NM_170714.1|3|1),5_prime_UTR_variant(MODIFIER||57|c.-57G>T|189|RASSF1|protein_coding|CODING|NM_001206957.1|2|1),5_prime_UTR_variant(MODIFIER||57|c.-57G>T|189|RASSF1|protein_coding|CODING|NM_170712.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1176,0.0807,0.1183,0.07,0.02,0.10,,0.001252(N),0.000(P),"2.77,-0.98,-0.98(T,T,T)",0.0039(T),0.043,1.560853,5.5,4.52,0.462000,2.590000,2.556000,0.978000,1.000000,0.917000,11.1963
missense_variant,CACNA2D2,MISSENSE,NM_001174051.2:p.Val296Met/c.886G>A,Gtg/Atg,MODERATE,,,,,0.14(T),"0.996,0.993(D,D)",1.445(L),-1.0986(T),,chr3,50417406,50417406,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val296Met/c.886G>A|1145|CACNA2D2|protein_coding|CODING|NM_001005505.2|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val296Met/c.886G>A|1150|CACNA2D2|protein_coding|CODING|NM_001174051.2|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val227Met/c.679G>A|1076|CACNA2D2|protein_coding|CODING|NM_001291101.1|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val296Met/c.886G>A|1143|CACNA2D2|protein_coding|CODING|NM_006030.3|9|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000007(D),1.000(D),"2.29,2.29,2.29,2.29,2.29,2.29,2.29,2.29(T,T,T,T,T,T,T,T)",0.0978(T),0.844,3.914632,5.0,5.0,0.561000,2.316000,6.024000,0.918000,1.000000,1.000000,18.3003
missense_variant,MANF,MISSENSE,NM_006010.5:p.Arg1Met/c.2G>T,aGg/aTg,MODERATE,,,,rs13091931,0(D),,,-1.0674(T),,chr3,51422766,51422766,G,T,hom,"missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg1Met/c.2G>T|185|MANF|protein_coding|CODING|NM_006010.5|1|1|WARNING_TRANSCRIPT_NO_START_CODON),downstream_gene_variant(MODIFIER||1137||2030|DOCK3|protein_coding|CODING|NM_004947.4||1)","H1ESC:PolII,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HUVEC:PolII,K562:SP2,HUVEC:H3K9ac,H1ESC:SP1,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HepG2:PolII,K562:Znf263,GM12878:ELF1,HepG2:SP1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HeLa-S3:PolII,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Cfos,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,,,,0.93,0.95,0.92,,,1.000(P),,0.0000(T),.,0.732693,2.04,1.03,0.313000,0.115000,1.377000,0.007000,0.000000,0.004000,2.1099
synonymous_variant,IQCF2,SILENT,NM_203424.1:p.Ser82Ser/c.246G>A,tcG/tcA,LOW,,,,,,,,,,chr3,51897137,51897137,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser82Ser/c.246G>A|164|IQCF2|protein_coding|CODING|NM_203424.1|3|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,IQCF1,MISSENSE,NM_152397.2:p.Lys57Glu/c.169A>G,Aaa/Gaa,MODERATE,COSM1180583(1),0.0986422,0.0169,rs57859638,0.81(T),0.001(B),0.205(N),-1.0335(T),,chr3,51930850,51930850,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys57Glu/c.169A>G|205|IQCF1|protein_coding|CODING|NM_152397.2|3|1),splice_region_variant(LOW|||c.169A>G|205|IQCF1|protein_coding|CODING|NM_152397.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0859,0.1441,0.1899,0.16,0.10,0.19,,0.015570(N),1.000(P),1.54(T),0.0000(T),0.059,0.599696,3.15,-5.5,0.448000,-1.368000,-1.751000,0.001000,0.000000,0.000000,6.6923
missense_variant,PARP3,MISSENSE,NM_001003931.2:p.His107Arg/c.320A>G,cAc/cGc,MODERATE,COSM4158189(1),0.997604,1,rs28547534,1(T),"0.0,0.0(B,B)",-2.375(N),-0.9996(T),,chr3,51978220,51978220,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His107Arg/c.320A>G|540|PARP3|protein_coding|CODING|NM_001003931.2|3|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His100Arg/c.299A>G|533|PARP3|protein_coding|CODING|NM_005485.4|3|1)","GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9969,0.9986,0.992,0.99,1.00,0.99,,0.000000(N),1.000(P),"2.71,2.71,2.71,2.71(T,T,T,T)",0.0000(T),0.43,-1.252529,4.96,3.14,-0.733000,0.138000,2.373000,0.046000,0.998000,1.000000,7.5821
missense_variant,GPR62,MISSENSE,NM_080865.3:p.Thr151Pro/c.451A>C,Acg/Ccg,MODERATE,COSM1580071(1),0.997804,1,rs28587738,0.1(T),0.0(B),-0.895(N),-1.0152(T),,chr3,51990119,51990119,A,C,het,"missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr151Pro/c.451A>C|368|GPR62|protein_coding|CODING|NM_080865.3|1|1),downstream_gene_variant(MODIFIER||1351||403|PCBP4|protein_coding|CODING|NM_001174100.1||1),downstream_gene_variant(MODIFIER||1351||360|PCBP4|protein_coding|CODING|NM_020418.3||1),downstream_gene_variant(MODIFIER||1351||403|PCBP4|protein_coding|CODING|NM_033008.2||1),downstream_gene_variant(MODIFIER||1351||403|PCBP4|protein_coding|CODING|NM_033010.2||1)","H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:CTCF",,,,0.998,0.9986,0.992,,,,,0.156650(N),1.000(P),1.28(T),0.0000(T),0.149,0.763637,3.74,2.77,-0.648000,0.558000,1.323000,0.210000,0.995000,0.998000,4.1015
missense_variant,GPR62,MISSENSE,NM_080865.3:p.His216Arg/c.647A>G,cAc/cGc,MODERATE,COSM4158191(3),0.997804,1,rs28651222,1(T),0.0(B),-2.02(N),-0.9988(T),,chr3,51990315,51990315,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His216Arg/c.647A>G|368|GPR62|protein_coding|CODING|NM_080865.3|1|1),downstream_gene_variant(MODIFIER||1155||403|PCBP4|protein_coding|CODING|NM_001174100.1||1),downstream_gene_variant(MODIFIER||1155||360|PCBP4|protein_coding|CODING|NM_020418.3||1),downstream_gene_variant(MODIFIER||1155||403|PCBP4|protein_coding|CODING|NM_033008.2||1),downstream_gene_variant(MODIFIER||1155||403|PCBP4|protein_coding|CODING|NM_033010.2||1)","HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,HMEC:DNase1",,,,0.998,0.9986,0.992,1.00,1.00,0.99,,0.005833(N),0.989(P),4.14(T),0.0000(T),0.061,-0.228893,4.59,4.59,-0.355000,0.910000,5.475000,0.331000,0.936000,1.000000,10.1102
synonymous_variant,ALAS1,SILENT,NM_000688.5:p.Ile173Ile/c.519C>T,atC/atT,LOW,COSM4002738(2),0.398363,0.3948,rs352168,,,,,,chr3,52237970,52237970,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile173Ile/c.519C>T|640|ALAS1|protein_coding|CODING|NM_000688.5|5|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile173Ile/c.519C>T|640|ALAS1|protein_coding|CODING|NM_199166.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3875,0.487,0.5298,0.47,0.33,0.55,,,,,,,,,,,,,,,,
synonymous_variant,TLR9,SILENT,NM_017442.3:p.Pro545Pro/c.1635G>A,ccG/ccA,LOW,COSM4158193(2),0.415535,0.3948,rs352140,,,,-0.9977(T),,chr3,52256697,52256697,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro545Pro/c.1635G>A|1032|TLR9|protein_coding|CODING|NM_017442.3|2|1),"CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4202,0.4986,0.5457,0.48,0.35,0.55,,,0.999(P),,0.0000(T),.,-1.781057,5.53,-11.1,-1.551000,-2.561000,-7.630000,0.002000,0.000000,0.000000,3.6152
synonymous_variant,TWF2,SILENT,NM_007284.3:p.Lys196Lys/c.588A>G,aaA/aaG,LOW,COSM3760162(1),0.202875,0.0357,rs352143,,,,-0.9651(T),,chr3,52264907,52264907,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys196Lys/c.588A>G|349|TWF2|protein_coding|CODING|NM_007284.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1135,0.1671,0.1909,0.25,0.34,0.20,,,0.000(P),,0.0000(T),.,-0.030265,4.74,3.86,-0.374000,0.431000,0.533000,0.360000,0.409000,0.071000,10.7667
synonymous_variant,TWF2,SILENT,NM_007284.3:p.His137His/c.411C>T,caC/caT,LOW,,0.0291534,0.0268,rs164637,,,,,,chr3,52265215,52265215,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His137His/c.411C>T|349|TWF2|protein_coding|CODING|NM_007284.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0605,0.0567,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,GLYCTK,MISSENSE,NM_145262.3:p.Leu170Val/c.508C>G,Ctg/Gtg,MODERATE,,0.0303514,0.0278,rs35130772,0.16(T),"0.391,0.793,0.401(B,P,B)",1.735(L),-1.0753(T),,chr3,52325106,52325106,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu170Val/c.508C>G|234|GLYCTK|protein_coding|CODING|NM_001144951.1|3|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu170Val/c.508C>G|523|GLYCTK|protein_coding|CODING|NM_145262.3|3|1),upstream_gene_variant(MODIFIER||1357|||GLYCTK-AS1||NON_CODING|NR_046719.1||1),non_coding_exon_variant(MODIFIER|||n.604C>G||GLYCTK||CODING|NR_026699.1|3|1),non_coding_exon_variant(MODIFIER|||n.188C>G||GLYCTK||CODING|NR_026700.1|2|1),non_coding_exon_variant(MODIFIER|||n.604C>G||GLYCTK||CODING|NR_026701.1|3|1),non_coding_exon_variant(MODIFIER|||n.604C>G||GLYCTK||CODING|NR_026702.1|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0174,0.0591,0.0586,0.04,0.02,0.05,,0.000075(D),0.994(D),"0.73,0.73,0.73,0.73,0.73,0.73,0.73(T,T,T,T,T,T,T)",0.0271(T),0.52,2.616339,5.29,4.41,0.655000,1.219000,3.262000,0.843000,0.973000,1.000000,8.8083
splice_acceptor_variant,GLYCTK,,NR_026699.1:n.626A>G,,HIGH,,0.508986,0.4008,rs2276834,,,,,,chr3,52325759,52325759,A,G,het,"splice_acceptor_variant(HIGH|||n.626A>G||GLYCTK||CODING|NR_026699.1|4|1),splice_region_variant(LOW|||c.530A>G|523|GLYCTK|protein_coding|CODING|NM_145262.3|3|1),splice_region_variant(LOW|||n.210A>G||GLYCTK||CODING|NR_026700.1|2|1),splice_region_variant(LOW|||n.626A>G||GLYCTK||CODING|NR_026701.1|3|1),intron_variant(MODIFIER|||n.626-2A>G||GLYCTK||CODING|NR_026699.1|3|1),intron_variant(MODIFIER|||c.530-4A>G|523|GLYCTK|protein_coding|CODING|NM_145262.3|3|1),intron_variant(MODIFIER|||n.210-4A>G||GLYCTK||CODING|NR_026700.1|2|1),intron_variant(MODIFIER|||n.626-4A>G||GLYCTK||CODING|NR_026701.1|3|1),intron_variant(MODIFIER|||c.530-517A>G|234|GLYCTK|protein_coding|CODING|NM_001144951.1|3|1),intron_variant(MODIFIER|||n.625+632A>G||GLYCTK||CODING|NR_026702.1|3|1)","NHEK:CTCF,H1ESC:H3K36me3,HepG2:H3K4me2,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,HepG2:H3K4me3,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.4059,0.4813,0.5189,0.55,0.61,0.52,,,,,,,,,,,,,,,,
missense_variant,DNAH1,MISSENSE,NM_015512.4:p.Val441Leu/c.1321G>C,Gtg/Ctg,MODERATE,,0.0305511,0.0188,rs13060192,0.21(T),"0.017,0.233(B,B)",1.67(L),-1.1224(T),,chr3,52378540,52378540,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val441Leu/c.1321G>C|4265|DNAH1|protein_coding|CODING|NM_015512.4|9|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.0164,0.0591,0.0616,0.04,0.01,0.05,,0.009313(N),0.968(D),1.69(T),0.0091(T),0.131,3.063000,5.04,5.04,0.655000,2.337000,4.336000,0.997000,0.998000,1.000000,11.8314
synonymous_variant,DNAH1,SILENT,NM_015512.4:p.Thr810Thr/c.2430C>T,acC/acT,LOW,,0.0277556,0.0188,rs35982798,,,,,,chr3,52383340,52383340,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr810Thr/c.2430C>T|4265|DNAH1|protein_coding|CODING|NM_015512.4|14|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.0184,0.0562,0.0557,0.04,0.02,0.05,,,,,,,,,,,,,,,,
missense_variant,DNAH1,MISSENSE,NM_015512.4:p.Arg1285Trp/c.3853C>T,Cgg/Tgg,MODERATE,,0.0275559,0.0188,rs61734640,0(D),0.948(D),1.89(L),-0.5793(T),,chr3,52390789,52390789,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1285Trp/c.3853C>T|4265|DNAH1|protein_coding|CODING|NM_015512.4|22|1),"IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.0174,0.0562,0.0557,0.04,0.02,0.05,,0.011943(N),0.588(D),0.09(T),0.0582(T),0.204,2.529648,5.41,4.45,0.555000,2.541000,1.475000,0.139000,1.000000,0.970000,13.3949
synonymous_variant,DNAH1,SILENT,NM_015512.4:p.Arg1322Arg/c.3964A>C,Agg/Cgg,LOW,COSM446813(2),0.161142,0.0238,rs11714402,,,,,,chr3,52391735,52391735,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg1322Arg/c.3964A>C|4265|DNAH1|protein_coding|CODING|NM_015512.4|23|1),"IMR90:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.1022,0.1542,0.165,0.19,0.22,0.17,,,,,,,,,,,,,,,,
synonymous_variant,DNAH1,SILENT,NM_015512.4:p.Ile3439Ile/c.10317C>T,atC/atT,LOW,,0.0299521,0.0188,rs419050,,,,,,chr3,52426884,52426884,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile3439Ile/c.10317C>T|4265|DNAH1|protein_coding|CODING|NM_015512.4|65|1),"IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.0174,0.0576,0.0577,0.04,0.02,0.05,,,,,,,,,,,,,,,,
missense_variant,DNAH1,MISSENSE,NM_015512.4:p.Arg3744Cys/c.11230C>T,Cgc/Tgc,MODERATE,,0.0299521,0.0188,rs419752,0(D),"0.656,0.502(P,P)",3.065(M),-1.1782(T),,chr3,52429665,52429665,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg3744Cys/c.11230C>T|4265|DNAH1|protein_coding|CODING|NM_015512.4|70|1),"H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.0174,0.0576,0.0577,0.04,0.02,0.05,,0.000004(D),1.000(D),3.02(T),0.0071(T),0.402,3.749756,4.17,3.2,0.591000,2.154000,5.352000,0.985000,1.000000,1.000000,9.496
missense_variant,DNAH1,MISSENSE,NM_015512.4:p.His3832Arg/c.11495A>G,cAt/cGt,MODERATE,,0.996406,1,rs365048,1(T),"0.0,0.0(B,B)",-3.89(N),-0.9607(T),,chr3,52430698,52430698,A,G,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His3832Arg/c.11495A>G|4265|DNAH1|protein_coding|CODING|NM_015512.4|72|1),H1ESC:H3K27me3,,,,1,0.9986,1,1.00,0.99,1.00,,0.000002(N),1.000(P),3.44(T),0.0000(T),0.224,-0.646347,4.49,4.49,-0.186000,1.124000,3.480000,0.816000,0.793000,0.977000,12.7741
synonymous_variant,PHF7,SILENT,NM_016483.5:p.Gly77Gly/c.231C>T,ggC/ggT,LOW,,0.971446,0.9812,rs498778,,,,,,chr3,52453893,52453893,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly77Gly/c.231C>T|342|PHF7|protein_coding|CODING|NM_001278221.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly77Gly/c.231C>T|381|PHF7|protein_coding|CODING|NM_016483.5|5|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9826,0.9424,0.9404,0.96,0.98,0.95,,,0.000(P),,,.,0.966045,5.87,0.502,-0.254000,0.129000,-0.160000,0.942000,0.999000,0.985000,0.8459
synonymous_variant,NISCH,SILENT,NM_007184.3:p.Asn69Asn/c.207T>C,aaT/aaC,LOW,,0.955272,0.9782,rs1541495,,,,,,chr3,52492707,52492707,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn69Asn/c.207T>C|583|NISCH|protein_coding|CODING|NM_001276293.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn69Asn/c.207T>C|515|NISCH|protein_coding|CODING|NM_001276294.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn69Asn/c.207T>C|1504|NISCH|protein_coding|CODING|NM_007184.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.9571,0.9337,0.9334,0.95,0.96,0.94,,,,,,,,,,,,,,,,
missense_variant,NISCH,MISSENSE,NM_007184.3:p.Val299Ile/c.895G>A,Gtc/Atc,MODERATE,COSM4158216(1),0.99361,1,rs9856575,1(T),"0.0,0.001(B,B)",-1.585(N),-0.9632(T),,chr3,52510592,52510592,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val299Ile/c.895G>A|583|NISCH|protein_coding|CODING|NM_001276293.1|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val299Ile/c.895G>A|515|NISCH|protein_coding|CODING|NM_001276294.1|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val299Ile/c.895G>A|1504|NISCH|protein_coding|CODING|NM_007184.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9899,0.9791,0.98,1.00,0.98,,0.000000(N),1.000(P),"0.7,0.7,2.35,2.35(T,T,T,T)",0.0000(T),0.147,0.434912,5.59,3.2,-1.032000,0.094000,5.751000,0.781000,1.000000,1.000000,6.2744
missense_variant,NISCH,MISSENSE,NM_007184.3:p.Ala1056Val/c.3167C>T,gCg/gTg,MODERATE,COSM4158219(1),0.728235,0.9782,rs887515,0.39(T),0.0(B),0.345(N),-1.0238(T),,chr3,52523405,52523405,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1056Val/c.3167C>T|1504|NISCH|protein_coding|CODING|NM_007184.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8814,0.8112,0.8241,0.69,0.45,0.81,,0.840012(N),0.999(P),"0.48,0.48(T,T)",0.0000(T),0.044,0.251539,3.74,-3.53,-0.995000,-0.796000,-0.999000,0.041000,0.000000,0.000000,5.7051
synonymous_variant,STAB1,SILENT,NM_015136.2:p.Gly632Gly/c.1896T>C,ggT/ggC,LOW,,0.638778,0.5446,rs1010553,,,,,,chr3,52540773,52540773,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly632Gly/c.1896T>C|2570|STAB1|protein_coding|CODING|NM_015136.2|18|1),"HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7628,0.4265,0.4682,0.59,0.82,0.48,,,,,,,,,,,,,,,,
missense_variant,STAB1,MISSENSE,NM_015136.2:p.Met912Val/c.2734A>G,Atg/Gtg,MODERATE,,0.991414,1,rs9835659,0.38(T),0.0(B),0(N),-0.9590(T),,chr3,52544470,52544470,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met912Val/c.2734A>G|2570|STAB1|protein_coding|CODING|NM_015136.2|25|1),"HUVEC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9918,0.9885,0.9742,0.98,1.00,0.98,,0.119430(N),1.000(P),-1.79(D),0.0000(T),0.027,0.178223,5.86,-5.18,-1.653000,-1.237000,0.375000,0.002000,0.000000,0.000000,12.8196
synonymous_variant,STAB1,SILENT,NM_015136.2:p.Pro1458Pro/c.4374C>T,ccC/ccT,LOW,COSM1328126(1),0.04373,0.0228,rs79979130,,,,,,chr3,52551010,52551010,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1458Pro/c.4374C>T|2570|STAB1|protein_coding|CODING|NM_015136.2|42|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0266,0.0893,0.0905,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,STAB1,MISSENSE,NM_015136.2:p.Ala1833Pro/c.5497G>C,Gcc/Ccc,MODERATE,,0.983227,1,rs7630214,0.33(T),0.0(B),-0.295(N),-0.9432(T),,chr3,52554304,52554304,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala1833Pro/c.5497G>C|2570|STAB1|protein_coding|CODING|NM_015136.2|52|1),splice_region_variant(LOW|||c.5497G>C|2570|STAB1|protein_coding|CODING|NM_015136.2|52|1)",HUVEC:H3K36me3,,,,0.9714,0.9784,0.9632,0.96,0.99,0.94,,0.050368(N),1.000(P),-2.79(D),0.0000(T),0.03,1.096920,6.07,5.15,-0.120000,1.594000,1.192000,0.019000,0.721000,0.001000,14.3916
synonymous_variant,STAB1,SILENT,NM_015136.2:p.Arg2087Arg/c.6261T>C,cgT/cgC,LOW,COSM446839(2),0.563698,0.4613,rs9853056,,,,,,chr3,52555957,52555957,T,C,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg2087Arg/c.6261T>C|2570|STAB1|protein_coding|CODING|NM_015136.2|58|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.3456,0.6571,0.5646,0.61,0.70,0.57,,,,,,,,,,,,,,,,
synonymous_variant,STAB1,SILENT,NM_015136.2:p.His2163His/c.6489C>T,caC/caT,LOW,,0.139577,0.0228,rs35325270,,,,,,chr3,52556369,52556369,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His2163His/c.6489C>T|2570|STAB1|protein_coding|CODING|NM_015136.2|60|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.0245,0.1239,0.0905,0.17,0.33,0.08,,,,,,,,,,,,,,,,
missense_variant,STAB1,MISSENSE,NM_015136.2:p.Met2506Thr/c.7517T>C,aTg/aCg,MODERATE,COSM3760167(2),0.548522,0.4524,rs13303,0.76(T),0.0(B),-1.39(N),-0.9451(T),,chr3,52558008,52558008,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met2506Thr/c.7517T>C|2570|STAB1|protein_coding|CODING|NM_015136.2|67|1),downstream_gene_variant(MODIFIER||377||557|NT5DC2|protein_coding|CODING|NM_001134231.1||1),downstream_gene_variant(MODIFIER||377||520|NT5DC2|protein_coding|CODING|NM_022908.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.6513,0.5656,0.60,0.65,0.57,,0.698125(N),1.000(P),-1.77(D),0.0000(T),0.411,-1.584710,5.48,3.6,-0.930000,0.819000,-0.595000,0.040000,0.001000,0.000000,6.3188
missense_variant,NT5DC2,MISSENSE,NM_001134231.1:p.Val46Ala/c.137T>C,gTc/gCc,MODERATE,COSM4158222(3),0.467851,0.4504,rs66782572,0.98(T),"0.0,0.0(B,B)",0(N),-0.9306(T),,chr3,52567617,52567617,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val46Ala/c.137T>C|557|NT5DC2|protein_coding|CODING|NM_001134231.1|1|1),intron_variant(MODIFIER|||c.121+932T>C|520|NT5DC2|protein_coding|CODING|NM_022908.2|1|1)","K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2883,0.6095,0.5557,,,,,,1.000(P),"2.04,2.09(T,T)",0.0000(T),0.06,-0.269521,3.99,0.932,-0.322000,-0.321000,-0.625000,0.005000,0.000000,0.000000,3.6355
missense_variant,NT5DC2,MISSENSE,NM_022908.2:p.Glu10Gly/c.29A>G,gAa/gGa,MODERATE,COSM149400(1),0.00459265,0.0179,rs145529151,0.37(T),0.0(B),0(N),-1.0450(T),,chr3,52568641,52568641,T,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu10Gly/c.29A>G|520|NT5DC2|protein_coding|CODING|NM_022908.2|1|1),upstream_gene_variant(MODIFIER||848||557|NT5DC2|protein_coding|CODING|NM_001134231.1||1),upstream_gene_variant(MODIFIER||1980||70|SMIM4|protein_coding|CODING|NM_001124767.1||1)","K562:H3K4me3,HepG2:H3K4me2,IMR90:H3K9ac,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.002,0.0014,0.002,0.00,0.00,0.00,,0.031789(U),1.000(N),1.89(T),0.0220(T),0.127,1.087271,3.04,0.601,0.460000,0.112000,-0.617000,0.002000,0.000000,0.000000,2.3957
synonymous_variant,ITIH3,SILENT,NM_002217.3:p.Asp97Asp/c.291C>T,gaC/gaT,LOW,COSM149402(2),0.16873,0.0407,rs2240921,,,,,,chr3,52830764,52830764,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp97Asp/c.291C>T|890|ITIH3|protein_coding|CODING|NM_002217.3|4|1),HepG2:H3K36me3,,,,0.1227,0.1427,0.1044,0.16,0.26,0.11,,,,,,,,,,,,,,,,
missense_variant,ITIH3,MISSENSE,NM_002217.3:p.Gln315Lys/c.943C>A,Caa/Aaa,MODERATE,COSM1617893(2),0.54373,0.4137,rs3617,0.55(T),"0.0,0.0(B,B)",-1.02(N),-0.9177(T),,chr3,52833805,52833805,C,A,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln315Lys/c.943C>A|890|ITIH3|protein_coding|CODING|NM_002217.3|9|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0.3916,0.6095,0.4841,0.54,0.71,0.47,,0.000863(N),1.000(P),"-1.65,-1.65(D,D)",0.0000(T),0.063,-0.564539,5.33,4.15,-0.256000,0.453000,0.355000,0.164000,0.004000,0.000000,11.8647
synonymous_variant,ITIH4,SILENT,NM_002218.4:p.Thr817Thr/c.2451G>A,acG/acA,LOW,COSM1424592(2),,,,,,,-1.0603(T),,chr3,52850920,52850920,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr787Thr/c.2361G>A|900|ITIH4|protein_coding|CODING|NM_001166449.1|19|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr817Thr/c.2451G>A|930|ITIH4|protein_coding|CODING|NM_002218.4|21|1)","HMEC:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,,1.000(N),,0.0320(T),.,0.667836,5.47,-10.9,-0.258000,-2.434000,-5.465000,0.905000,0.004000,0.000000,0.9561
synonymous_variant,ITIH4,SILENT,NM_002218.4:p.Thr25Thr/c.75T>C,acT/acC,LOW,,0.508387,0.372,rs2071042,,,,,,chr3,52864584,52864584,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr25Thr/c.75T>C|900|ITIH4|protein_coding|CODING|NM_001166449.1|1|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr25Thr/c.75T>C|930|ITIH4|protein_coding|CODING|NM_002218.4|1|1)","HepG2:H3K4me2,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.456,0.5576,0.4046,0.48,0.65,0.38,,,,,,,,,,,,,,,,
synonymous_variant,ITIH4,SILENT,NM_002218.4:p.Arg8Arg/c.24T>C,cgT/cgC,LOW,COSM3760170(1),0.0834665,0.0417,rs2276818,,,,,,chr3,52864635,52864635,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg8Arg/c.24T>C|900|ITIH4|protein_coding|CODING|NM_001166449.1|1|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg8Arg/c.24T>C|930|ITIH4|protein_coding|CODING|NM_002218.4|1|1)","HepG2:H3K4me2,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K27me3,K562:DNase1",,,,0.0613,0.1297,0.1441,0.12,0.08,0.15,,,,,,,,,,,,,,,,
missense_variant,TMEM110-MUSTN1,MISSENSE,NM_001198974.2:p.Asp310Glu/c.930C>G,gaC/gaG,MODERATE,,0.951478,1,rs6787916,1(T),"0.0,0.0(B,B)",-0.75(N),-0.9574(T),,chr3,52867715,52867715,G,C,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp310Glu/c.930C>G|372|TMEM110-MUSTN1|protein_coding|CODING|NM_001198974.2|9|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp20Glu/c.60C>G|82|MUSTN1|protein_coding|CODING|NM_205853.3|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9798,0.999,0.95,0.85,1.00,,,0.994(P),,0.0000(T),0.138,1.811805,5.22,3.41,-0.357000,0.224000,0.446000,0.985000,1.000000,0.996000,7.1261
synonymous_variant,RFT1,SILENT,NM_052859.3:p.Thr541Thr/c.1623A>G,acA/acG,LOW,,0.490415,0.746,rs11242,,,,,,chr3,53125922,53125922,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr541Thr/c.1623A>G|541|RFT1|protein_coding|CODING|NM_052859.3|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082329.1,,0.4785,0.585,0.5964,0.46,0.25,0.56,,,,,,,,,,,,,,,,
synonymous_variant,PRKCD,SILENT,NM_006254.3:p.Glu373Glu/c.1119G>A,gaG/gaA,LOW,COSM1179808(2),0.282149,0.2202,rs2230494,,,,,,chr3,53220215,53220215,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu373Glu/c.1119G>A|676|PRKCD|protein_coding|CODING|NM_006254.3|13|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu373Glu/c.1119G>A|676|PRKCD|protein_coding|CODING|NM_212539.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.2925,0.2863,0.30,0.32,0.28,,,,,,,,,,,,,,,,
synonymous_variant,PRKCD,SILENT,NM_006254.3:p.Leu481Leu/c.1441C>T,Ctg/Ttg,LOW,COSM149403(1),0.713458,0.7639,rs2306574,,,,,,chr3,53222761,53222761,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu481Leu/c.1441C>T|676|PRKCD|protein_coding|CODING|NM_006254.3|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu481Leu/c.1441C>T|676|PRKCD|protein_coding|CODING|NM_212539.1|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.635,0.719,0.7505,0.76,0.72,0.78,,,,,,,,,,,,,,,,
synonymous_variant,PRKCD,SILENT,NM_006254.3:p.Thr594Thr/c.1782C>G,acC/acG,LOW,,0.901957,0.9653,rs1075865,,,,,,chr3,53223927,53223927,C,G,hom,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr594Thr/c.1782C>G|676|PRKCD|protein_coding|CODING|NM_006254.3|18|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr594Thr/c.1782C>G|676|PRKCD|protein_coding|CODING|NM_212539.1|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8589,0.9697,1,0.93,0.81,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PRKCD,SILENT,NM_006254.3:p.Pro619Pro/c.1857T>C,ccT/ccC,LOW,,0.940495,1,rs900495,,,,,,chr3,53224002,53224002,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro619Pro/c.1857T>C|676|PRKCD|protein_coding|CODING|NM_006254.3|18|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro619Pro/c.1857T>C|676|PRKCD|protein_coding|CODING|NM_212539.1|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9712,1,0.94,0.82,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1D,SILENT,NM_000720.3:p.Ser920Ser/c.2760C>T,agC/agT,LOW,COSM4002764(2),0.192292,0.2153,rs1045958,,,,,,chr3,53769479,53769479,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser920Ser/c.2760C>T|2181|CACNA1D|protein_coding|CODING|NM_000720.3|21|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser900Ser/c.2700C>T|2137|CACNA1D|protein_coding|CODING|NM_001128839.2|20|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser900Ser/c.2700C>T|2161|CACNA1D|protein_coding|CODING|NM_001128840.2|20|1)",,,,,0.1922,0.3112,0.3191,0.25,0.07,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CHDH,SILENT,NM_018397.4:p.Leu307Leu/c.921C>G,ctC/ctG,LOW,,0.0245607,0,rs35064726,,,,,,chr3,53855738,53855738,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu307Leu/c.921C>G|594|CHDH|protein_coding|CODING|NM_018397.4|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:DNase1,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.0532,0.0216,0.0527,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,CHDH,SILENT,NM_018397.4:p.Ala240Ala/c.720G>A,gcG/gcA,LOW,COSM4158237(1),0.442692,0.5655,rs2241808,,,,,,chr3,53856653,53856653,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala240Ala/c.720G>A|594|CHDH|protein_coding|CODING|NM_018397.4|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6135,0.4438,0.5268,0.44,0.22,0.55,,,,,,,,,,,,,,,,
missense_variant,CHDH,MISSENSE,NM_018397.4:p.Leu78Arg/c.233T>G,cTc/cGc,MODERATE,COSM3760175(3),0.865815,0.998,rs12676,0.36(T),0.002(B),0.69(N),-0.9262(T),,chr3,53857803,53857803,A,C,hom,missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu78Arg/c.233T>G|594|CHDH|protein_coding|CODING|NM_018397.4|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.8793,0.8112,0.7068,0.77,0.88,0.72,,0.009256(N),1.000(P),"-0.14,1.06,-0.14(T,T,T)",0.0000(T),0.037,-0.202964,5.73,-11.5,-0.975000,-4.136000,-0.253000,0.000000,0.000000,0.000000,7.8992
synonymous_variant,IL17RB,SILENT,NM_018725.3:p.Pro42Pro/c.126C>G,ccC/ccG,LOW,COSM4002767(1),0.430112,0.4722,rs1025689,,,,,,chr3,53883722,53883722,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro42Pro/c.126C>G|502|IL17RB|protein_coding|CODING|NM_018725.3|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6299,0.4597,0.6332,0.48,0.18,0.63,,,,,,,,,,,,,,,,
synonymous_variant,IL17RB,SILENT,NM_018725.3:p.Tyr123Tyr/c.369C>T,taC/taT,LOW,COSM3760176(2),0.429313,0.5913,rs3733075,,,,,,chr3,53886912,53886912,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr123Tyr/c.369C>T|502|IL17RB|protein_coding|CODING|NM_018725.3|5|1),"HUVEC:H3K27me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.4264,0.3228,0.3449,0.35,0.40,0.33,,,,,,,,,,,,,,,,
synonymous_variant,ACTR8,SILENT,NM_022899.4:p.Gly506Gly/c.1518A>G,ggA/ggG,LOW,COSM3760178(1),0.692292,0.9444,rs1046677,,,,-1.0289(T),,chr3,53905308,53905308,T,C,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly506Gly/c.1518A>G|624|ACTR8|protein_coding|CODING|NM_022899.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6953,0.6196,0.4523,0.52,0.68,0.44,,,0.000(P),,0.0000(T),.,1.137708,5.67,-2.54,-1.551000,-0.796000,-0.016000,0.958000,0.936000,0.916000,7.8427
synonymous_variant,ACTR8,SILENT,NM_022899.4:p.Ile400Ile/c.1200C>T,atC/atT,LOW,COSM3760179(2),0.690296,0.9444,rs4687757,,,,-1.0443(T),,chr3,53906513,53906513,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile400Ile/c.1200C>T|624|ACTR8|protein_coding|CODING|NM_022899.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6953,0.6196,0.4513,0.52,0.67,0.44,,,0.000(P),,0.0000(T),.,-0.087344,5.87,-4.73,-0.972000,-1.434000,0.244000,0.256000,0.754000,0.952000,15.7232
synonymous_variant,CACNA2D3,SILENT,NM_018398.2:p.Ile82Ile/c.246T>C,atT/atC,LOW,COSM446878(2),0.653355,0.6042,rs9879885,,,,,,chr3,54354510,54354510,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile82Ile/c.246T>C|1091|CACNA2D3|protein_coding|CODING|NM_018398.2|3|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,HeLa-S3:Cjun,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ap2gamma,HeLa-S3:Cfos",,,,0.682,0.611,0.7316,0.72,0.67,0.74,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D3,SILENT,NM_018398.2:p.Gln420Gln/c.1260G>A,caG/caA,LOW,COSM3760181(1),0.391973,0.4812,rs3732748,,,,,,chr3,54798258,54798258,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln420Gln/c.1260G>A|1091|CACNA2D3|protein_coding|CODING|NM_018398.2|13|1),,,,,0.4018,0.5187,0.5258,0.40,0.21,0.49,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D3,SILENT,NM_018398.2:p.Gly531Gly/c.1593A>G,ggA/ggG,LOW,,0.167133,0.1786,rs3773603,,,,,,chr3,54880461,54880461,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly531Gly/c.1593A>G|1091|CACNA2D3|protein_coding|CODING|NM_018398.2|17|1),IMR90:H3K27me3,,,,0.1881,0.1873,0.1938,0.17,0.13,0.19,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D3,SILENT,NM_018398.2:p.Ala1064Ala/c.3192A>G,gcA/gcG,LOW,,0.100839,0,rs17054785,,,,,,chr3,55108149,55108149,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1064Ala/c.3192A>G|1091|CACNA2D3|protein_coding|CODING|NM_018398.2|38|1),HepG2:H3K27me3,,,,0.0542,0.0965,0.1541,0.16,0.17,0.15,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D3,SILENT,NM_018398.2:p.Thr1077Thr/c.3231A>G,acA/acG,LOW,,0.0876597,0,rs35471424,,,,,,chr3,55108188,55108188,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1077Thr/c.3231A>G|1091|CACNA2D3|protein_coding|CODING|NM_018398.2|38|1),HepG2:H3K27me3,,,,0.0562,0.1037,0.159,0.14,0.12,0.16,,,,,,,,,,,,,,,,
missense_variant,ERC2,MISSENSE,NM_015576.1:p.Asn10Ser/c.29A>G,aAt/aGt,MODERATE,,0.000599042,0,rs201465789,0.09(T),0.0(B),0(N),-1.0787(T),,chr3,56469007,56469007,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn10Ser/c.29A>G|955|ERC2|protein_coding|CODING|NM_015576.1|2|1),H1ESC:H3K36me3,,,,0,0.0014,0.002,0.00,0.00,0.00,,0.000008(D),0.896(N),1.55(T),0.0138(T),0.01,1.933493,5.46,4.3,0.533000,1.001000,2.859000,0.998000,0.992000,1.000000,8.823
synonymous_variant,CCDC66,SILENT,NM_001141947.1:p.Thr115Thr/c.345C>T,acC/acT,LOW,COSM4002770(1),0.650759,0.5417,rs6769055,,,,,,chr3,56597954,56597954,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr81Thr/c.243C>T|914|CCDC66|protein_coding|CODING|NM_001012506.4|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr115Thr/c.345C>T|948|CCDC66|protein_coding|CODING|NM_001141947.1|4|1),non_coding_exon_variant(MODIFIER|||n.432C>T||CCDC66||CODING|NR_024460.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5276,0.7911,0.8459,0.77,0.63,0.85,,,,,,,,,,,,,,,,
synonymous_variant,CCDC66,SILENT,NM_001141947.1:p.Gln329Gln/c.987A>G,caA/caG,LOW,COSM4002773(1),0.736022,0.625,rs1388256,,,,,,chr3,56627048,56627048,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln295Gln/c.885A>G|914|CCDC66|protein_coding|CODING|NM_001012506.4|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln329Gln/c.987A>G|948|CCDC66|protein_coding|CODING|NM_001141947.1|8|1),non_coding_exon_variant(MODIFIER|||n.1055A>G||CCDC66||CODING|NR_024460.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6237,0.8256,0.8956,0.84,0.73,0.90,,,,,,,,,,,,,,,,
missense_variant,CCDC66,MISSENSE,NM_001141947.1:p.Gln383Arg/c.1148A>G,cAg/cGg,MODERATE,,0.960264,1,rs1491170,0.74(T),0.0(B),0.11(N),-1.0422(T),,chr3,56627598,56627598,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln349Arg/c.1046A>G|914|CCDC66|protein_coding|CODING|NM_001012506.4|9|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln383Arg/c.1148A>G|948|CCDC66|protein_coding|CODING|NM_001141947.1|9|1),non_coding_exon_variant(MODIFIER|||n.1216A>G||CCDC66||CODING|NR_024460.1|9|1)","H1ESC:H3K36me3,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII",,,,1,0.9798,0.998,0.95,0.87,1.00,,0.449831(N),1.000(P),"1.97,1.97,1.97,1.97(T,T,T,T)",0.0000(T),0.131,-1.505928,5.91,-7.35,-2.282000,-2.692000,-0.465000,0.023000,0.000000,0.000000,11.3744
missense_variant,CCDC66,MISSENSE,NM_001141947.1:p.Arg460Gln/c.1379G>A,cGa/cAa,MODERATE,,0.215056,0.0486,rs7637449,0.01(D),0.999(D),2.045(M),-0.8695(T),,chr3,56628031,56628031,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg426Gln/c.1277G>A|914|CCDC66|protein_coding|CODING|NM_001012506.4|10|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg460Gln/c.1379G>A|948|CCDC66|protein_coding|CODING|NM_001141947.1|10|1),non_coding_exon_variant(MODIFIER|||n.1447G>A||CCDC66||CODING|NR_024460.1|10|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,CD4:H2BK120ac,CD4:H2BK12ac",,,,0.1953,0.2839,0.5388,0.41,0.15,0.54,,0.000000(D),0.000(P),"0.49,0.49,0.49,0.49(T,T,T,T)",0.0000(T),0.4,5.038495,5.81,5.81,0.585000,2.739000,4.880000,0.968000,0.875000,0.998000,17.8518
synonymous_variant,ARHGEF3,SILENT,NM_001128615.1:p.His553His/c.1659C>T,caC/caT,LOW,COSM3760187(1),0.730232,0.8542,rs1565376,,,,,,chr3,56763316,56763316,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His553His/c.1659C>T|558|ARHGEF3|protein_coding|CODING|NM_001128615.1|13|1),synonymous_variant(LOW|SILENT|caC/caT|p.His527His/c.1581C>T|532|ARHGEF3|protein_coding|CODING|NM_001128616.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His527His/c.1581C>T|532|ARHGEF3|protein_coding|CODING|NM_001289698.1|11|1),synonymous_variant(LOW|SILENT|caC/caT|p.His521His/c.1563C>T|526|ARHGEF3|protein_coding|CODING|NM_019555.2|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7658,0.6585,0.4235,0.56,0.82,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ARHGEF3,SILENT,NM_001128615.1:p.Gly549Gly/c.1647A>G,ggA/ggG,LOW,COSM3760189(1),0.728435,0.8542,rs1565377,,,,,,chr3,56763328,56763328,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly549Gly/c.1647A>G|558|ARHGEF3|protein_coding|CODING|NM_001128615.1|13|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly523Gly/c.1569A>G|532|ARHGEF3|protein_coding|CODING|NM_001128616.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly523Gly/c.1569A>G|532|ARHGEF3|protein_coding|CODING|NM_001289698.1|11|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly517Gly/c.1551A>G|526|ARHGEF3|protein_coding|CODING|NM_019555.2|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7669,0.6585,0.4245,0.55,0.81,0.42,,,,,,,,,,,,,,,,
missense_variant,ARHGEF3,MISSENSE,NM_001128615.1:p.Leu367Val/c.1099T>G,Ttg/Gtg,MODERATE,,0.414736,0.4206,rs3772219,0.04(D),"0.191,0.191,0.351,0.125,0.444,0.191,0.351(B,B,B,B,B,B,B)",2.305(M),-0.9323(T),,chr3,56771251,56771251,A,C,het,"missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu367Val/c.1099T>G|558|ARHGEF3|protein_coding|CODING|NM_001128615.1|11|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu341Val/c.1021T>G|532|ARHGEF3|protein_coding|CODING|NM_001128616.1|8|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu341Val/c.1021T>G|532|ARHGEF3|protein_coding|CODING|NM_001289698.1|9|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu335Val/c.1003T>G|526|ARHGEF3|protein_coding|CODING|NM_019555.2|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2812,0.487,0.2863,0.38,0.52,0.30,,0.000001(D),0.000(P),"1.49,1.49,1.49,1.49,1.49,1.49(T,T,T,T,T,T)",0.0000(T),0.258,3.170374,5.93,0.518,0.454000,0.023000,0.940000,0.995000,0.996000,0.970000,6.604
synonymous_variant,ARHGEF3,SILENT,NM_019555.2:p.Pro22Pro/c.66C>T,ccC/ccT,LOW,COSM446908(2),0.321286,0.1944,rs3732508,,,,,,chr3,56835761,56835761,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro22Pro/c.66C>T|526|ARHGEF3|protein_coding|CODING|NM_019555.2|1|1),intron_variant(MODIFIER|||c.193-27917C>T|558|ARHGEF3|protein_coding|CODING|NM_001128615.1|4|1),intron_variant(MODIFIER|||c.115-27917C>T|532|ARHGEF3|protein_coding|CODING|NM_001289698.1|2|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,HeLa-S3:H3K4me2,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,HeLa-S3:PolII,HepG2:H3K4me3,CD4:H3K4ac,CD4:PolII,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4806,0.487,0.5716,0.39,0.11,0.54,,,,,,,,,,,,,,,,
synonymous_variant,IL17RD,SILENT,NM_017563.3:p.Leu511Leu/c.1531T>C,Ttg/Ctg,LOW,,0.736222,0.5129,rs2291462,,,,,,chr3,57132200,57132200,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu511Leu/c.1531T>C|739|IL17RD|protein_coding|CODING|NM_017563.3|12|1),"H1ESC:H3K36me3,GM06990:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.9213,0.8501,0.8618,0.79,0.66,0.86,,,,,,,,,,,,,,,,
missense_variant,IL17RD,MISSENSE,NM_017563.3:p.Val301Met/c.901G>A,Gtg/Atg,MODERATE,COSM3760201(1),0.205871,0.376,rs17057718,0.23(T),"0.065,0.052,0.137(B,B,B)",0(N),-0.9293(T),,chr3,57136585,57136585,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val301Met/c.901G>A|739|IL17RD|protein_coding|CODING|NM_017563.3|10|1),H1ESC:H3K36me3,,,,0.228,0.3271,0.1471,0.12,0.07,0.15,,0.000004(D),0.031(P),"2.88,2.9,2.88,2.9(T,T,T,T)",0.0000(T),0.089,1.162180,5.48,3.57,-0.136000,1.557000,1.488000,0.320000,0.215000,0.894000,4.6136
missense_variant,IL17RD,MISSENSE,NM_017563.3:p.Thr255Met/c.764C>T,aCg/aTg,MODERATE,,0.530152,0.1369,rs6780995,0.11(T),"0.302,0.115,0.23(B,B,B)",0.695(N),-1.0792(T),,chr3,57138419,57138419,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr255Met/c.764C>T|739|IL17RD|protein_coding|CODING|NM_017563.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3",,,,0.6922,0.5216,0.7147,0.67,0.58,0.71,,0.087928(N),0.790(P),"2.89,2.9,2.89,2.9(T,T,T,T)",0.0000(T),0.101,1.995041,5.65,-0.521,-0.137000,-0.011000,0.831000,0.982000,0.990000,0.992000,10.9444
synonymous_variant,IL17RD,SILENT,NM_017563.3:p.His220His/c.660T>C,caT/caC,LOW,,0.79373,0.5208,rs1545981,,,,,,chr3,57139972,57139972,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His220His/c.660T>C|739|IL17RD|protein_coding|CODING|NM_017563.3|7|1),"H1ESC:H3K36me3,HMEC:H3K36me3",,,,0.956,0.8948,0.9036,0.86,0.78,0.90,,,,,,,,,,,,,,,,
missense_variant,DNAH12,MISSENSE,NM_001291661.1:p.Arg2904Gln/c.8711G>A,cGg/cAg,MODERATE,COSM1424848(1),0.665136,0.9157,rs4060726,1(T),"0.001,0.134(B,B)",-0.44(N),-1.0145(T),,chr3,57335876,57335876,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2904Gln/c.8711G>A|3103|DNAH12|protein_coding|CODING|NM_001291661.1|54|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.6411,0.7233,0.6233,0.58,0.50,0.61,,0.000000(D),0.000(P),"3.21,3.21,3.21(T,T,T)",0.0000(T),0.29,-0.979871,5.53,2.34,-0.128000,0.717000,-0.355000,0.071000,0.988000,0.000000,12.0331
missense_variant,DNAH12,MISSENSE,NM_001291661.1:p.Val2357Leu/c.7069G>C,Gtt/Ctt,MODERATE,COSM4158253(1),0.277356,0.4028,rs12053975,,,,-0.9296(T),,chr3,57386148,57386148,C,G,het,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val2357Leu/c.7069G>C|3103|DNAH12|protein_coding|CODING|NM_001291661.1|44|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.4182,0.2997,0.2326,0.19,0.11,0.23,,,0.000(P),,0.0000(T),.,0.725913,5.03,-0.26,0.557000,-0.286000,-0.253000,0.993000,0.407000,0.409000,5.6157
missense_variant,DNAH12,MISSENSE,NM_001291661.1:p.Thr1786Ile/c.5357C>T,aCa/aTa,MODERATE,COSM446917(3),0.590455,0.4216,rs4681982,0.1(T),0.0(B),-0.09(N),-1.0573(T),,chr3,57414071,57414071,G,A,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1786Ile/c.5357C>T|3103|DNAH12|protein_coding|CODING|NM_001291661.1|35|1|WARNING_TRANSCRIPT_INCOMPLETE),"NH-A:H3K27me3,K562:H3K27me3",,,,0.6002,0.5533,0.4563,,,,,,1.000(P),2.06(T),0.0000(T),0.053,0.034973,1.04,-0.547,-0.351000,-0.772000,-0.100000,0.015000,0.003000,0.097000,4.7927
missense_variant,DNAH12,MISSENSE,NM_001291661.1:p.Lys1777Asn/c.5331A>T,aaA/aaT,MODERATE,,0.23742,0.0853,rs17793014,0.38(T),0.001(B),0.625(N),-0.9002(T),,chr3,57414097,57414097,T,A,het,missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys1777Asn/c.5331A>T|3103|DNAH12|protein_coding|CODING|NM_001291661.1|35|1|WARNING_TRANSCRIPT_INCOMPLETE),"NH-A:H3K27me3,K562:H3K27me3",,,,0.3282,0.2651,0.4423,,,,,,1.000(P),2.05(T),0.0000(T),0.097,-0.190912,3.21,-2.61,-1.542000,-0.524000,0.906000,0.019000,0.001000,0.145000,3.1973
missense_variant,DNAH12,MISSENSE,NM_001291661.1:p.Tyr1727His/c.5179T>C,Tat/Cat,MODERATE,,0.29992,0.4187,rs4462937,1(T),0.0(B),-1.595(N),-0.9360(T),,chr3,57414434,57414434,A,G,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr1727His/c.5179T>C|3103|DNAH12|protein_coding|CODING|NM_001291661.1|34|1|WARNING_TRANSCRIPT_INCOMPLETE),"NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.4693,0.3127,0.2416,0.21,0.14,0.24,,,1.000(P),"1.92,1.92(T,T)",0.0000(T),0.033,-2.027775,5.76,-1.92,-0.789000,-0.118000,0.114000,0.016000,0.001000,0.015000,5.2318
missense_variant,DNAH12,MISSENSE,NM_001291661.1:p.Asp1572Asn/c.4714G>A,Gat/Aat,MODERATE,,0.404153,0.4177,rs6773904,0.34(T),0.911(D),0.875(L),-0.9035(T),,chr3,57419497,57419497,C,T,hom,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp1572Asn/c.4714G>A|3103|DNAH12|protein_coding|CODING|NM_001291661.1|31|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.5665,0.4611,0.5517,0.40,0.18,0.50,,,0.000(P),"0.57,0.57(T,T)",0.0000(T),0.142,2.004007,5.73,4.86,-0.127000,1.427000,5.963000,0.021000,0.970000,1.000000,16.9907
synonymous_variant,DNAH12,SILENT,NM_001291661.1:p.Tyr1446Tyr/c.4338C>T,taC/taT,LOW,,0.420927,0.4147,rs6768943,,,,,,chr3,57430988,57430988,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1446Tyr/c.4338C>T|3103|DNAH12|protein_coding|CODING|NM_001291661.1|28|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.5828,0.4914,0.5895,0.43,0.19,0.53,,,,,,,,,,,,,,,,
synonymous_variant,DNAH12,SILENT,NM_001291661.1:p.Leu1318Leu/c.3952C>T,Ctg/Ttg,LOW,,0.42512,0.4177,rs2121743,,,,,,chr3,57431985,57431985,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1318Leu/c.3952C>T|3103|DNAH12|protein_coding|CODING|NM_001291661.1|27|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.5828,0.4928,0.5915,0.43,0.21,0.53,,,,,,,,,,,,,,,,
missense_variant,DNAH12,MISSENSE,NM_001291661.1:p.Thr467Pro/c.1399A>C,Act/Cct,MODERATE,COSM1424885(1),0.633586,0.5,rs6806444,0.5(T),0.0(B),-1.525(N),-1.0279(T),,chr3,57475351,57475351,T,G,hom,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr467Pro/c.1399A>C|3103|DNAH12|protein_coding|CODING|NM_001291661.1|12|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.7434,0.6138,0.7087,0.67,0.63,0.69,,0.000087(N),0.000(P),"2.14,1.99,3.7(T,T,T)",0.0000(T),0.187,1.709438,5.42,5.42,-0.121000,1.305000,2.310000,0.982000,0.963000,1.000000,13.1521
missense_variant,PDE12,MISSENSE,NM_177966.5:p.Arg23Trp/c.67C>T,Cgg/Tgg,MODERATE,COSM4158255(1),0.387979,0.4306,rs2241988,0.06(T),"0.249,0.431(B,B)",1.245(L),-0.8890(T),,chr3,57542173,57542173,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg23Trp/c.67C>T|609|PDE12|protein_coding|CODING|NM_177966.5|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,CD4:H2BK12ac,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.5429,0.451,0.4722,0.35,0.18,0.44,,0.019893(N),0.991(P),"1.73,1.78(T,T)",0.0000(T),0.088,1.751894,5.6,3.66,0.563000,2.641000,3.766000,0.009000,0.976000,0.977000,10.9075
synonymous_variant,PDE12,SILENT,NM_177966.5:p.Ala31Ala/c.93G>T,gcG/gcT,LOW,,0.0091853,0,rs61747701,,,,,,chr3,57542199,57542199,G,T,het,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala31Ala/c.93G>T|609|PDE12|protein_coding|CODING|NM_177966.5|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,CD4:H2BK12ac,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.0041,0.0029,0.0388,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,SLMAP,SILENT,NM_007159.2:p.Leu622Leu/c.1866T>A,ctT/ctA,LOW,,0.0071885,0,rs35219531,0.49(T),,,,,chr3,57898376,57898376,T,A,het,synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu622Leu/c.1866T>A|811|SLMAP|protein_coding|CODING|NM_007159.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0029,0.0308,0.02,0.00,0.03,,0.002397(N),1.000(D),,,.,1.172829,5.18,1.35,0.459000,0.362000,-0.321000,0.992000,0.998000,0.096000,0.9054
synonymous_variant,FLNB,SILENT,NM_001164317.1:p.Ser309Ser/c.927T>C,agT/agC,LOW,,0.641973,0.9772,rs1522384,,,,,,chr3,58081888,58081888,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser309Ser/c.927T>C|2633|FLNB|protein_coding|CODING|NM_001164317.1|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser309Ser/c.927T>C|2591|FLNB|protein_coding|CODING|NM_001164318.1|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser309Ser/c.927T>C|2578|FLNB|protein_coding|CODING|NM_001164319.1|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser309Ser/c.927T>C|2602|FLNB|protein_coding|CODING|NM_001457.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7025,0.5821,0.3668,0.40,0.53,0.32,,,,,,,,,,,,,,,,
missense_variant,FLNB,MISSENSE,NM_001164317.1:p.Asp1157Asn/c.3469G>A,Gac/Aac,MODERATE,COSM4158258(1),0.546126,0.9187,rs1131356,0.06(T),"0.985,0.918,0.998,0.863,0.999,0.999(D,D,D,P,D,D)",2.105(M),-0.9623(T),,chr3,58109162,58109162,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp1157Asn/c.3469G>A|2633|FLNB|protein_coding|CODING|NM_001164317.1|21|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp1157Asn/c.3469G>A|2591|FLNB|protein_coding|CODING|NM_001164318.1|21|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp1157Asn/c.3469G>A|2578|FLNB|protein_coding|CODING|NM_001164319.1|21|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp1157Asn/c.3469G>A|2602|FLNB|protein_coding|CODING|NM_001457.3|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5828,0.4726,0.2803,0.30,0.41,0.24,,0.000000(D),0.000(P),"-1.96,-1.96,-1.96,-1.96,-1.96,-1.96,-1.96,-1.96(D,D,D,D,D,D,D,D)",0.0000(T),0.082,3.725331,5.95,5.08,0.563000,1.537000,9.869000,0.016000,0.888000,1.000000,15.2231
synonymous_variant,FLNB,SILENT,NM_001164317.1:p.Ala1391Ala/c.4173A>G,gcA/gcG,LOW,COSM4158260(1),0.833267,0.998,rs2362903,,,,,,chr3,58112440,58112440,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1391Ala/c.4173A>G|2633|FLNB|protein_coding|CODING|NM_001164317.1|24|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1391Ala/c.4173A>G|2591|FLNB|protein_coding|CODING|NM_001164318.1|24|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1391Ala/c.4173A>G|2578|FLNB|protein_coding|CODING|NM_001164319.1|24|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1391Ala/c.4173A>G|2602|FLNB|protein_coding|CODING|NM_001457.3|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7904,0.7579,0.6213,0.73,0.89,0.64,,,,,,,,,,,,,,,,
synonymous_variant,FLNB,SILENT,NM_001164317.1:p.Pro1487Pro/c.4461G>A,ccG/ccA,LOW,,0.0886581,0.3145,rs60183346,,,,,,chr3,58117724,58117724,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1487Pro/c.4461G>A|2633|FLNB|protein_coding|CODING|NM_001164317.1|26|1),intron_variant(MODIFIER|||c.4391-811G>A|2591|FLNB|protein_coding|CODING|NM_001164318.1|25|1),intron_variant(MODIFIER|||c.4391-811G>A|2578|FLNB|protein_coding|CODING|NM_001164319.1|25|1),intron_variant(MODIFIER|||c.4391-811G>A|2602|FLNB|protein_coding|CODING|NM_001457.3|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0481,0.0692,0.0268,,,,,,,,,,,,,,,,,,,
missense_variant,FLNB,MISSENSE,NM_001164317.1:p.Val1502Met/c.4504G>A,Gtg/Atg,MODERATE,COSM4158266(1),0.608227,0.9692,rs12632456,0.09(T),"0.37,0.194,0.278,0.055,0.423,0.423(B,B,B,B,B,B)",2.66(M),-0.9853(T),,chr3,58118555,58118555,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1502Met/c.4504G>A|2633|FLNB|protein_coding|CODING|NM_001164317.1|27|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1471Met/c.4411G>A|2591|FLNB|protein_coding|CODING|NM_001164318.1|26|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1471Met/c.4411G>A|2578|FLNB|protein_coding|CODING|NM_001164319.1|26|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1471Met/c.4411G>A|2602|FLNB|protein_coding|CODING|NM_001457.3|26|1)","H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6145,0.4813,0.2833,0.36,0.58,0.25,,0.000613(D),0.012(P),"-2.37,-2.37,-2.37,-2.37,-2.37,-2.37,-2.37,-2.37(D,D,D,D,D,D,D,D)",0.0000(T),0.138,3.592206,5.81,2.75,0.557000,0.228000,2.951000,0.915000,0.669000,1.000000,5.5883
synonymous_variant,FLNB,SILENT,NM_001164317.1:p.Ser2484Ser/c.7452C>T,agC/agT,LOW,,0.571286,0.9216,rs8640,,,,,,chr3,58154327,58154327,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser2484Ser/c.7452C>T|2633|FLNB|protein_coding|CODING|NM_001164317.1|45|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser2442Ser/c.7326C>T|2591|FLNB|protein_coding|CODING|NM_001164318.1|44|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser2429Ser/c.7287C>T|2578|FLNB|protein_coding|CODING|NM_001164319.1|43|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser2453Ser/c.7359C>T|2602|FLNB|protein_coding|CODING|NM_001457.3|44|1)","H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6022,0.4597,0.2664,0.34,0.50,0.25,,,,,,,,,,,,,,,,
synonymous_variant,DNASE1L3,SILENT,NM_004944.3:p.Thr84Thr/c.252G>A,acG/acA,LOW,COSM4002798(1),0.361821,0.6429,rs2070117,,,,,,chr3,58191266,58191266,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr84Thr/c.252G>A|305|DNASE1L3|protein_coding|CODING|NM_004944.3|3|1),intron_variant(MODIFIER|||c.231-658G>A|275|DNASE1L3|protein_coding|CODING|NM_001256560.1|2|1)",GM12878:H3K36me3,,,,0.5225,0.2997,0.2237,0.19,0.17,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PXK,SILENT,NM_017771.4:p.Cys301Cys/c.903C>T,tgC/tgT,LOW,COSM3760209(3),0.200679,0.001,rs3191903,,,,-1.1351(T),,chr3,58382846,58382846,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys284Cys/c.852C>T|563|PXK|protein_coding|CODING|NM_001289095.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys268Cys/c.804C>T|545|PXK|protein_coding|CODING|NM_001289096.1|8|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys301Cys/c.903C>T|515|PXK|protein_coding|CODING|NM_001289098.1|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys218Cys/c.654C>T|495|PXK|protein_coding|CODING|NM_001289099.1|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys268Cys/c.804C>T|482|PXK|protein_coding|CODING|NM_001289100.1|8|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys164Cys/c.492C>T|441|PXK|protein_coding|CODING|NM_001289101.1|7|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys301Cys/c.903C>T|578|PXK|protein_coding|CODING|NM_017771.4|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.2839,0.3777,0.32,0.21,0.37,,,0.000(P),,0.0000(T),.,1.332515,5.5,5.5,0.655000,2.861000,1.606000,0.998000,1.000000,1.000000,19.5916
missense_variant,PXK,MISSENSE,NM_017771.4:p.Lys481Arg/c.1442A>G,aAg/aGg,MODERATE,COSM446941(2),0.177316,0.001,rs56384862,0.24(T),"0.021,0.003,0.001,0.003,0.003(B,B,B,B,B)",1.265(L),-0.9780(T),,chr3,58395863,58395863,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys464Arg/c.1391A>G|563|PXK|protein_coding|CODING|NM_001289095.1|15|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys448Arg/c.1343A>G|545|PXK|protein_coding|CODING|NM_001289096.1|14|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys481Arg/c.1442A>G|515|PXK|protein_coding|CODING|NM_001289098.1|16|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys398Arg/c.1193A>G|495|PXK|protein_coding|CODING|NM_001289099.1|16|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys448Arg/c.1343A>G|482|PXK|protein_coding|CODING|NM_001289100.1|14|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys344Arg/c.1031A>G|441|PXK|protein_coding|CODING|NM_001289101.1|13|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys481Arg/c.1442A>G|578|PXK|protein_coding|CODING|NM_017771.4|16|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.2767,0.3777,0.29,0.13,0.37,,0.002018(N),0.004(P),"1.94,1.94,1.94,1.49,1.49,1.49,1.46,2.14,0.38(T,T,T,T,T,T,T,T,T)",0.0000(T),0.241,2.689584,5.9,5.9,0.519000,2.268000,4.760000,0.963000,0.991000,1.000000,14.9448
missense_variant,PXK,MISSENSE,NM_017771.4:p.Ala535Val/c.1604C>T,gCa/gTa,MODERATE,COSM1599970(3),0.205471,0.001,rs34579268,0.19(T),"0.0,0.0(B,B)",0.41(N),-0.9794(T),,chr3,58410554,58410554,C,T,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala502Val/c.1505C>T|545|PXK|protein_coding|CODING|NM_001289096.1|16|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala452Val/c.1355C>T|495|PXK|protein_coding|CODING|NM_001289099.1|18|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala398Val/c.1193C>T|441|PXK|protein_coding|CODING|NM_001289101.1|15|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala535Val/c.1604C>T|578|PXK|protein_coding|CODING|NM_017771.4|18|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly528Gly/c.1584C>T|563|PXK|protein_coding|CODING|NM_001289095.1|18|1),3_prime_UTR_variant(MODIFIER||4272|c.*89C>T|515|PXK|protein_coding|CODING|NM_001289098.1|19|1),3_prime_UTR_variant(MODIFIER||4272|c.*89C>T|482|PXK|protein_coding|CODING|NM_001289100.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.2839,0.3777,0.32,0.22,0.37,,0.480815(N),0.999(P),"2.16,2.16,2.17,2.17(T,T,T,T)",0.0000(T),0.143,0.869609,6.03,-5.16,-0.140000,-0.924000,-1.086000,0.334000,0.001000,0.000000,11.2739
synonymous_variant,PDHB,SILENT,NM_000925.3:p.Gly146Gly/c.438G>A,ggG/ggA,LOW,COSM3760211(1),0.204673,0.001,rs1126551,,,,,,chr3,58416535,58416535,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly146Gly/c.438G>A|359|PDHB|protein_coding|CODING|NM_000925.3|6|1),intron_variant(MODIFIER|||c.404-20G>A|341|PDHB|protein_coding|CODING|NM_001173468.1|6|1),non_coding_exon_variant(MODIFIER|||n.551G>A||PDHB||CODING|NR_033384.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117898.2,,0.1708,0.2839,0.3757,0.07,0.03,0.09,,,,,,,,,,,,,,,,
synonymous_variant,PDHB,SILENT,NM_000925.3:p.Arg145Arg/c.435A>G,agA/agG,LOW,,0.984824,1,rs4264746,,,,,,chr3,58416538,58416538,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg145Arg/c.435A>G|359|PDHB|protein_coding|CODING|NM_000925.3|6|1),intron_variant(MODIFIER|||c.404-23A>G|341|PDHB|protein_coding|CODING|NM_001173468.1|6|1),non_coding_exon_variant(MODIFIER|||n.548A>G||PDHB||CODING|NR_033384.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FAM107A,SILENT,NM_001282713.1:p.Ser13Ser/c.39C>T,tcC/tcT,LOW,,0.277556,0.4831,rs80312641,,,,,,chr3,58572625,58572625,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser13Ser/c.39C>T|172|FAM107A|protein_coding|CODING|NM_001282713.1|1|1),intron_variant(MODIFIER|||c.88+2308C>T|175|FAM107A|protein_coding|CODING|NM_001282714.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4294,0.3415,0.1491,,,,,,,,,,,,,,,,,,,
missense_variant,C3orf67,MISSENSE,NM_198463.2:p.Arg97His/c.290G>A,cGc/cAc,MODERATE,,0.00199681,0,rs116534917,,"0.029,0.019(B,B)",1.3(L),-1.0939(T),,chr3,58870321,58870321,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg97His/c.290G>A|563|C3orf67|protein_coding|CODING|NM_198463.2|7|1),intron_variant(MODIFIER|||n.105+60020C>T||C3orf67-AS1||NON_CODING|NR_110820.1|1|1)",,,,,0.002,0.0043,0.005,0.01,0.00,0.01,,0.017375(N),1.000(D),"0.75,0.75,0.75(T,T,T)",0.0578(T),0.079,2.594771,5.61,1.83,-0.140000,0.318000,0.505000,0.517000,0.992000,0.994000,4.7606
synonymous_variant,PTPRG,SILENT,NM_002841.3:p.Ile816Ile/c.2448C>T,atC/atT,LOW,,0.978035,1,rs1352882,,,,,,chr3,62229553,62229553,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile816Ile/c.2448C>T|1445|PTPRG|protein_coding|CODING|NM_002841.3|15|1),"HSMM:H3K36me3,HepG2:H3K36me3",,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PRICKLE2,SILENT,NM_198859.3:p.Asp272Asp/c.816T>C,gaT/gaC,LOW,,0.983826,1,rs27673,,,,,,chr3,64133350,64133350,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp272Asp/c.816T>C|844|PRICKLE2|protein_coding|CODING|NM_198859.3|7|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000118166.2,,1,0.9971,0.998,0.98,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,ADAMTS9,MISSENSE,NM_182920.1:p.Arg209His/c.626G>A,cGc/cAc,MODERATE,COSM1048065(2),,,rs146464879,0.48(T),"0.0,0.001,0.002,0.0(B,B,B,B)",0(N),-1.0273(T),,chr3,64666930,64666930,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg209His/c.626G>A|1935|ADAMTS9|protein_coding|CODING|NM_182920.1|3|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3",,,,,,,0.00,0.00,0.00,,0.580676(N),1.000(N),"-0.24,-0.19,-0.41(T,T,T)",0.1072(T),0.079,1.553146,6.04,-3.13,0.561000,-1.079000,0.064000,0.050000,0.001000,0.007000,9.387
missense_variant,SLC25A26,MISSENSE,NM_173471.3:p.Ser41Asn/c.122G>A,aGt/aAt,MODERATE,COSM1048156(1),0.448482,0.4127,rs146159281,0.31(T),0.0(B),,-0.9389(T),,chr3,66287056,66287056,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser41Asn/c.122G>A|274|SLC25A26|protein_coding|CODING|NM_173471.3|3|1),intron_variant(MODIFIER|||c.-74-6571G>A|186|SLC25A26|protein_coding|CODING|NM_001164796.1|1|1),intron_variant(MODIFIER|||n.387-6571G>A||SLC25A26||CODING|NR_028475.1|1|1)","CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.182,0.4971,0.3419,0.40,0.67,0.29,,,0.037(P),-1.25(T),0.0000(T),0.008,1.556678,5.19,1.14,-0.332000,-0.004000,0.873000,0.989000,0.717000,0.085000,5.8368
synonymous_variant,SLC25A26,SILENT,NM_173471.3:p.Ala203Ala/c.609A>G,gcA/gcG,LOW,,0.0988419,0.0873,rs1129179,,,,-1.0180(T),,chr3,66419942,66419942,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala115Ala/c.345A>G|186|SLC25A26|protein_coding|CODING|NM_001164796.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala203Ala/c.609A>G|274|SLC25A26|protein_coding|CODING|NM_173471.3|9|1),non_coding_exon_variant(MODIFIER|||n.890A>G||SLC25A26||CODING|NR_028475.1|8|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0971,0.1138,0.1839,0.15,0.07,0.19,,,0.000(P),,0.0001(T),.,0.753079,5.38,-0.784,-0.313000,0.005000,-0.003000,0.567000,0.999000,0.833000,3.9139
missense_variant,SLC25A26,MISSENSE,NM_173471.3:p.Thr208Met/c.623C>T,aCg/aTg,MODERATE,COSM4158300(1),0.679912,0.7659,rs13874,,,-3.15(N),-0.9194(T),,chr3,66419956,66419956,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr120Met/c.359C>T|186|SLC25A26|protein_coding|CODING|NM_001164796.1|7|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr208Met/c.623C>T|274|SLC25A26|protein_coding|CODING|NM_173471.3|9|1),non_coding_exon_variant(MODIFIER|||n.904C>T||SLC25A26||CODING|NR_028475.1|8|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6268,0.621,0.4761,0.56,0.78,0.44,,,0.000(P),,0.0000(T),.,-0.935221,5.49,5.49,-0.254000,0.922000,5.324000,0.043000,1.000000,1.000000,11.4812
missense_variant,LRIG1,MISSENSE,NM_015541.2:p.Gln1053Pro/c.3158A>C,cAg/cCg,MODERATE,,0.108027,0.0556,rs2279290,0.08(T),"0.134,0.043,0.026(B,B,B)",1.61(L),-1.0841(T),,chr3,66430811,66430811,T,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln1053Pro/c.3158A>C|1093|LRIG1|protein_coding|CODING|NM_015541.2|19|1),downstream_gene_variant(MODIFIER||1460||186|SLC25A26|protein_coding|CODING|NM_001164796.1||1),downstream_gene_variant(MODIFIER||1460||274|SLC25A26|protein_coding|CODING|NM_173471.3||1),downstream_gene_variant(MODIFIER||1460|||SLC25A26||CODING|NR_028475.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1002,0.1138,0.1958,0.17,0.10,0.20,,0.001745(N),0.999(P),"-0.21,-0.25(T,T)",0.0003(T),0.499,1.252740,5.54,3.13,0.533000,0.931000,2.859000,0.036000,0.984000,1.000000,9.9676
synonymous_variant,LRIG1,SILENT,NM_015541.2:p.Ser1033Ser/c.3099C>T,tcC/tcT,LOW,,0.0445288,0.0179,rs61754218,,,,,,chr3,66430870,66430870,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1033Ser/c.3099C>T|1093|LRIG1|protein_coding|CODING|NM_015541.2|19|1),downstream_gene_variant(MODIFIER||1519||186|SLC25A26|protein_coding|CODING|NM_001164796.1||1),downstream_gene_variant(MODIFIER||1519||274|SLC25A26|protein_coding|CODING|NM_173471.3||1),downstream_gene_variant(MODIFIER||1519|||SLC25A26||CODING|NR_028475.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0767,0.0533,0.0885,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,LRIG1,SILENT,NM_015541.2:p.Leu741Leu/c.2221T>C,Ttg/Ctg,LOW,COSM4158303(2),0.694489,0.8036,rs900171,,,,,,chr3,66433676,66433676,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu741Leu/c.2221T>C|1093|LRIG1|protein_coding|CODING|NM_015541.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6769,0.6441,0.5974,0.61,0.70,0.56,,,,,,,,,,,,,,,,
missense_variant,LRIG1,MISSENSE,NM_015541.2:p.Pro721Leu/c.2162C>T,cCg/cTg,MODERATE,,0.0123802,0.003,rs116809906,0.04(D),"0.3,0.166,0.329(B,B,B)",1.15(L),-0.9788(T),,chr3,66433735,66433735,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro721Leu/c.2162C>T|1093|LRIG1|protein_coding|CODING|NM_015541.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.0029,0.0139,0.01,0.01,0.01,,0.155777(N),0.609(N),"-0.25,-0.25(T,T)",0.0990(T),0.162,1.293129,5.5,2.48,-0.345000,0.610000,4.179000,0.012000,0.000000,0.870000,7.4328
synonymous_variant,LRIG1,SILENT,NM_015541.2:p.Ser439Ser/c.1317C>T,agC/agT,LOW,COSM149417(2),0.28155,0.0575,rs6793110,,,,,,chr3,66444615,66444615,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser439Ser/c.1317C>T|1093|LRIG1|protein_coding|CODING|NM_015541.2|12|1),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,GM12878:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,IMR90:H3K36me3,GM12878:EBF,GM12878:PolII,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,CD4:PolII,HUVEC:H3K4me1,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,GM12878:Tcf12",,,,0.1881,0.3617,0.2445,0.31,0.45,0.23,,,,,,,,,,,,,,,,
synonymous_variant,LRIG1,SILENT,NM_015541.2:p.Ala44Ala/c.132C>T,gcC/gcT,LOW,,,,,,,,,,chr3,66550700,66550700,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala44Ala/c.132C>T|1093|LRIG1|protein_coding|CODING|NM_015541.2|1|1),"H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,LRIG1,MISSENSE,NM_015541.2:p.Leu26Val/c.76C>G,Ctt/Gtt,MODERATE,COSM3749841(4),0.719848,0.8284,rs1403625,0.38(T),"0.257,0.096(B,B)",0.55(N),-0.8998(T),,chr3,66550756,66550756,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu26Val/c.76C>G|1093|LRIG1|protein_coding|CODING|NM_015541.2|1|1),"H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9601,0.8833,0.9732,0.81,0.48,0.98,,0.792175(U),1.000(P),"-0.26,-0.13(T,T)",0.0000(T),0.093,0.473779,3.84,2.93,0.472000,1.845000,.,0.020000,0.520000,.,8.6883
missense_variant,LRIG1,MISSENSE,NM_015541.2:p.Leu24Val/c.70C>G,Ctt/Gtt,MODERATE,COSM3749842(4),0.719848,0.8284,rs1403626,0.37(T),"0.146,0.069(B,B)",0.55(N),-0.9556(T),,chr3,66550762,66550762,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu24Val/c.70C>G|1093|LRIG1|protein_coding|CODING|NM_015541.2|1|1),"H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9601,0.8833,0.9732,0.81,0.47,0.98,,0.278020(U),0.975(P),"-0.35,-0.2(T,T)",0.0000(T),0.119,1.126319,3.11,3.11,0.472000,1.734000,.,0.017000,0.546000,.,12.0321
missense_variant,SUCLG2,MISSENSE,NM_001177599.1:p.Tyr404His/c.1210T>C,Tat/Cat,MODERATE,COSM3824580(1),0.384784,0.4573,rs386425361,0(D),,,-0.9610(T),,chr3,67411166,67411166,A,G,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr404His/c.1210T>C|440|SUCLG2|protein_coding|CODING|NM_001177599.1|11|1),,,,,0.2658,0.3401,0.3807,,,,,,1.000(P),-0.81(T),0.0000(T),0.108,0.391349,4.4,3.22,0.454000,0.631000,1.298000,0.009000,0.001000,0.002000,7.0674
synonymous_variant,EOGT,SILENT,NM_001278689.1:p.Arg461Arg/c.1381A>C,Aga/Cga,LOW,,,,rs144921586,,,,,,chr3,69027540,69027540,T,G,het,"synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg461Arg/c.1381A>C|527|EOGT|protein_coding|CODING|NM_001278689.1|17|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg377Arg/c.1129A>C|443|EOGT|protein_coding|CODING|NM_173654.2|14|1),non_coding_exon_variant(MODIFIER|||n.1846A>C||EOGT||CODING|NR_103826.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,EOGT,SILENT,NM_001278689.1:p.Tyr304Tyr/c.912T>C,taT/taC,LOW,COSM4002812(1),0.17492,0.2401,rs13085120,,,,,,chr3,69038088,69038088,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr304Tyr/c.912T>C|527|EOGT|protein_coding|CODING|NM_001278689.1|11|1),intron_variant(MODIFIER|||c.832-1424T>C|443|EOGT|protein_coding|CODING|NM_173654.2|10|1),non_coding_exon_variant(MODIFIER|||n.1377T>C||EOGT||CODING|NR_103826.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2219,0.1268,0.1938,,,,,,,,,,,,,,,,,,,
missense_variant,TMF1,MISSENSE,NM_007114.2:p.Asp798His/c.2392G>C,Gat/Cat,MODERATE,COSM3760218(1),0.0569089,0.001,rs1532918,0.01(D),"0.995,0.979(D,D)",1.87(L),-1.2649(T),,chr3,69082708,69082708,C,G,het,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp798His/c.2392G>C|1093|TMF1|protein_coding|CODING|NM_007114.2|10|1),"NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,IMR90:DNase1,HUVEC:Cjun,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.0644,0.0764,0.1521,0.11,0.02,0.15,,0.000003(D),0.000(P),"2.15,2.15(T,T)",0.0007(T),0.695,4.790972,5.83,5.83,0.655000,2.770000,7.786000,0.995000,1.000000,1.000000,20.1338
synonymous_variant,TMF1,SILENT,NM_007114.2:p.Ser414Ser/c.1242C>T,tcC/tcT,LOW,,0.772764,0.6796,rs2292199,,,,,,chr3,69096614,69096614,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser414Ser/c.1242C>T|1093|TMF1|protein_coding|CODING|NM_007114.2|2|1),downstream_gene_variant(MODIFIER||1495|||MIR3136||NON_CODING|NR_036087.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7485,0.866,0.8002,0.81,0.82,0.81,,,,,,,,,,,,,,,,
missense_variant,FRMD4B,MISSENSE,NM_015123.2:p.Ser947Leu/c.2840C>T,tCg/tTg,MODERATE,,0.770367,0.6419,rs9831516,0.28(T),0.994(D),2.135(M),-0.9085(T),,chr3,69230061,69230061,G,A,hom,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser947Leu/c.2840C>T|1034|FRMD4B|protein_coding|CODING|NM_015123.2|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,0.8149,0.8847,0.9901,0.88,0.65,0.99,,0.000000(D),0.000(P),"-2.21,-2.17(D,D)",0.0000(T),0.613,3.176909,5.83,5.83,0.591000,2.757000,9.476000,0.914000,0.998000,1.000000,20.1141
synonymous_variant,FRMD4B,SILENT,NM_015123.2:p.His700His/c.2100C>T,caC/caT,LOW,,0.770168,0.6409,rs9836305,,,,,,chr3,69230801,69230801,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His700His/c.2100C>T|1034|FRMD4B|protein_coding|CODING|NM_015123.2|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,HepG2:DNase1",,,,0.8149,0.8847,0.9901,0.88,0.66,0.99,,,,,,,,,,,,,,,,
missense_variant,FRMD4B,MISSENSE,NM_015123.2:p.Thr396Ala/c.1186A>G,Acg/Gcg,MODERATE,,0.969848,1,rs9310141,0.52(T),0.0(B),-0.69(N),-0.9524(T),,chr3,69245454,69245454,T,C,hom,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr396Ala/c.1186A>G|1034|FRMD4B|protein_coding|CODING|NM_015123.2|14|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.999,0.9942,0.999,0.97,0.90,1.00,,0.021532(N),0.997(P),"-1.44,-1.44,-1.44(T,T,T)",0.0000(T),0.082,2.624966,6.07,6.07,-0.197000,1.598000,1.672000,0.844000,0.803000,0.185000,15.696
synonymous_variant,FRMD4B,SILENT,NM_015123.2:p.Leu331Leu/c.991T>C,Ttg/Ctg,LOW,,0.7498,0.6647,rs13059488,,,,,,chr3,69246152,69246152,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu331Leu/c.991T>C|1034|FRMD4B|protein_coding|CODING|NM_015123.2|13|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7935,0.9222,0.9453,0.83,0.57,0.95,,,,,,,,,,,,,,,,
missense_variant,SHQ1,MISSENSE,NM_018130.2:p.Ser489Asn/c.1466G>A,aGt/aAt,MODERATE,,0.291933,0.0367,rs35178407,1(T),0.0(B),0(N),-1.0150(T),,chr3,72799703,72799703,C,T,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser489Asn/c.1466G>A|577|SHQ1|protein_coding|CODING|NM_018130.2|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1299,0.2003,0.2406,0.37,0.62,0.25,,0.013072(N),1.000(P),"1.56,1.54(T,T)",0.0000(T),0.004,0.082137,5.52,-11.0,-1.925000,-4.380000,-0.307000,0.012000,0.000000,0.000000,5.1688
missense_variant,EBLN2,MISSENSE,NM_018029.3:p.Ser46Pro/c.136T>C,Tcc/Ccc,MODERATE,,0.526558,0.4514,rs2231924,0.47(T),0.0(B),0(N),-0.9491(T),,chr3,73111368,73111368,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser46Pro/c.136T>C|272|EBLN2|protein_coding|CODING|NM_018029.3|1|1),intron_variant(MODIFIER|||c.419+1157T>C|417|PPP4R2|protein_coding|CODING|NM_174907.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.3689,0.508,0.55,0.63,0.51,,,1.000(P),,0.0000(T),0.046,-0.868432,0.587,-0.462,-0.684000,-1.023000,-1.034000,0.006000,0.003000,0.005000,.
missense_variant,EBLN2,MISSENSE,NM_018029.3:p.Ile193Val/c.577A>G,Att/Gtt,MODERATE,COSM4158316(1),0.526158,0.4504,rs2231926,1(T),0.0(B),-0.345(N),-0.9412(T),,chr3,73111809,73111809,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile193Val/c.577A>G|272|EBLN2|protein_coding|CODING|NM_018029.3|1|1),intron_variant(MODIFIER|||c.420-1015A>G|417|PPP4R2|protein_coding|CODING|NM_174907.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.3689,0.508,0.55,0.63,0.51,,,1.000(P),,0.0000(T),0.076,-2.810176,0.468,-0.603,-1.383000,-1.385000,-2.665000,0.000000,0.000000,0.001000,.
synonymous_variant,EBLN2,SILENT,NM_018029.3:p.Pro247Pro/c.741A>G,ccA/ccG,LOW,COSM4158317(1),0.614816,0.4931,rs2231928,,,,,,chr3,73111973,73111973,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro247Pro/c.741A>G|272|EBLN2|protein_coding|CODING|NM_018029.3|1|1),intron_variant(MODIFIER|||c.420-851A>G|417|PPP4R2|protein_coding|CODING|NM_174907.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6319,0.3991,0.5099,0.62,0.84,0.51,,,,,,,,,,,,,,,,
missense_variant,EBLN2,MISSENSE,NM_018029.3:p.Leu256Phe/c.766C>T,Ctt/Ttt,MODERATE,,0.525958,0.4504,rs1060584,0.36(T),0.0(B),0(N),-0.9495(T),,chr3,73111998,73111998,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu256Phe/c.766C>T|272|EBLN2|protein_coding|CODING|NM_018029.3|1|1),intron_variant(MODIFIER|||c.420-826C>T|417|PPP4R2|protein_coding|CODING|NM_174907.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.3689,0.508,0.55,0.63,0.51,,,1.000(P),,0.0000(T),0.109,-0.661497,0.468,-0.722,-1.305000,-1.287000,-0.622000,0.000000,0.000000,0.005000,.
missense_variant,PDZRN3,MISSENSE,NM_015009.1:p.Glu243Lys/c.727G>A,Gaa/Aaa,MODERATE,,0.000599042,0,rs150437956,0.77(T),0.284(B),1.61(L),-1.0599(T),,chr3,73657832,73657832,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu243Lys/c.727G>A|1066|PDZRN3|protein_coding|CODING|NM_015009.1|2|1),"IMR90:H3K36me3,NHEK:H3K27me3",,,,0,0.0014,0.002,0.00,0.00,0.00,,0.000032(D),1.000(D),"2.96,1.9(T,T)",0.0553(T),0.623,3.629648,5.42,5.42,0.655000,2.508000,6.446000,0.960000,1.000000,1.000000,19.2259
synonymous_variant,PDZRN3,SILENT,NM_015009.1:p.Ala133Ala/c.399C>G,gcC/gcG,LOW,COSM3760230(3),0.922324,0.9385,rs6763344,,,,,,chr3,73673578,73673578,G,C,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala133Ala/c.399C>G|1066|PDZRN3|protein_coding|CODING|NM_015009.1|1|1),intron_variant(MODIFIER|||n.398+462G>C||PDZRN3-AS1||NON_CODING|NR_046681.1|1|1)","H1ESC:H3K9ac,HUVEC:H3K27me3,IMR90:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NHEK:H3K27me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,H1ESC:CTCF",,,,0.8957,0.8977,0.8757,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Asn704Lys/c.2112T>A,aaT/aaA,MODERATE,COSM4158409(1),,,rs202184453,1(T),0.264(B),1.535(L),-1.0789(T),,chr3,75786662,75786662,A,T,het,"missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn704Lys/c.2112T>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn704Lys/c.2112T>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn654Lys/c.1962T>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||769|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3765T>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,,,,,,,,,0.000(P),"3.31,3.46,3.46(T,T,T)",0.0129(T),0.321,0.862758,1.57,1.57,0.445000,1.007000,6.284000,0.025000,0.007000,0.997000,7.274
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Ser701Asn/c.2102G>A,aGc/aAc,MODERATE,COSM4158412(1),,,rs200017345,0.03(D),0.003(B),-0.305(N),-0.9681(T),,chr3,75786672,75786672,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser701Asn/c.2102G>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser701Asn/c.2102G>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser651Asn/c.1952G>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||759|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3755G>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,,,,,,,,,0.000(P),"3.36,3.5,3.49(T,T,T)",0.0082(T),0.209,0.651492,1.27,-2.03,-0.270000,-0.759000,-0.654000,0.002000,0.001000,0.119000,6.4167
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Pro698Leu/c.2093C>T,cCg/cTg,MODERATE,COSM3774119(1),,,rs111677009,0(D),0.0(B),-1.395(N),-0.9290(T),,chr3,75786681,75786681,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro698Leu/c.2093C>T|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro698Leu/c.2093C>T|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro648Leu/c.1943C>T|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||750|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3746C>T|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,,,,,,,,,0.000(P),"3.42,3.55,3.54(T,T,T)",0.0052(T),0.392,0.366403,1.27,-2.53,-3.190000,-1.950000,-7.316000,0.000000,0.001000,0.000000,3.1326
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Thr697Lys/c.2090C>A,aCa/aAa,MODERATE,COSM4158413(1),,,rs201345045,0(D),0.965(D),1.21(L),-1.0342(T),,chr3,75786684,75786684,G,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr697Lys/c.2090C>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr697Lys/c.2090C>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr647Lys/c.1940C>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||747|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3743C>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,,,,,,,,,0.000(P),"3.33,3.49,3.49(T,T,T)",0.0310(T),0.486,1.493736,1.63,0.715,-0.268000,0.256000,3.759000,0.001000,0.019000,1.000000,6.1449
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Asn679Lys/c.2037T>A,aaT/aaA,MODERATE,COSM3760234(2),,,rs78297221,0.16(T),0.034(B),1.055(L),-0.9975(T),,chr3,75786737,75786737,A,T,het,"missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn679Lys/c.2037T>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn679Lys/c.2037T>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn629Lys/c.1887T>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||694|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3690T>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,,,,,,,,,0.000(P),"3.34,3.5,3.5(T,T,T)",0.0000(T),0.327,2.009160,1.57,1.57,0.445000,1.007000,6.119000,0.015000,0.018000,1.000000,7.274
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Asp676Asn/c.2026G>A,Gat/Aat,MODERATE,COSM3760235(2),,,rs112332186,0.09(T),0.0(B),-1.235(N),-0.9518(T),,chr3,75786748,75786748,C,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp676Asn/c.2026G>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp676Asn/c.2026G>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp626Asn/c.1876G>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||683|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3679G>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,,,,,,,,,1.000(P),"3.2,3.2,3.2(T,T,T)",0.0000(T),0.229,0.157969,1.57,-3.14,-1.616000,-2.019000,-1.568000,0.001000,0.000000,0.000000,5.6215
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Arg674His/c.2021G>A,cGt/cAt,MODERATE,COSM3945702(3),0.674321,0.8254,rs3009020,0.04(D),0.0(B),-0.145(N),-0.9805(T),,chr3,75786753,75786753,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg674His/c.2021G>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg674His/c.2021G>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg624His/c.1871G>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||678|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3674G>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,0.6288,0.7277,0.7326,,,,,,0.000(P),"2.87,2.87,2.87(T,T,T)",0.0119(T),0.263,0.208289,1.57,-3.14,-1.335000,-1.496000,-3.497000,0.000000,0.000000,0.001000,4.182
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Val648Ile/c.1942G>A,Gta/Ata,MODERATE,COSM3824634(3),0.674521,0.8254,rs11122676,0.09(T),0.001(B),0.97(L),-0.9187(T),,chr3,75786832,75786832,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val648Ile/c.1942G>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val648Ile/c.1942G>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val598Ile/c.1792G>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||599|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3595G>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,0.6299,0.7277,0.7326,,,,,,1.000(P),"2.19,2.19,2.19(T,T,T)",0.0000(T),0.33,0.493088,1.71,-1.23,-1.572000,-0.338000,-6.469000,0.005000,0.004000,0.000000,3.1934
synonymous_variant,ZNF717,SILENT,NM_001128223.1:p.Tyr647Tyr/c.1941C>T,taC/taT,LOW,COSM3760240(3),,,rs139448820,,,,,,chr3,75786833,75786833,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr647Tyr/c.1941C>T|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr647Tyr/c.1941C>T|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr597Tyr/c.1791C>T|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||598|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3594C>T|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF717,SILENT,NM_001128223.1:p.Gly643Gly/c.1929A>G,ggA/ggG,LOW,COSM3760242(1),,,rs62250105,,,,,,chr3,75786845,75786845,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly643Gly/c.1929A>G|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly643Gly/c.1929A>G|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly593Gly/c.1779A>G|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||586|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3582A>G|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.Arg629His/c.1886G>A,cGt/cAt,MODERATE,COSM3760243(3),,,rs1615736,0.37(T),0.0(B),1.35(L),-0.9186(T),,chr3,75786888,75786888,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg629His/c.1886G>A|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg629His/c.1886G>A|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg579His/c.1736G>A|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),upstream_gene_variant(MODIFIER||543|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+3539G>A|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,,,,,,,,,1.000(P),"3.13,3.13,3.13(T,T,T)",0.0000(T),0.269,0.355334,1.9,-3.81,-1.132000,-1.710000,-3.218000,0.000000,0.000000,0.000000,5.2238
missense_variant,ZNF717,MISSENSE,NM_001128223.1:p.His385Arg/c.1154A>G,cAt/cGt,MODERATE,COSM4158513(1),,,rs145606249,0.01(D),0.957(D),3.9(H),0.7751(D),,chr3,75787620,75787620,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His385Arg/c.1154A>G|914|ZNF717|protein_coding|CODING|NM_001128223.1|5|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His385Arg/c.1154A>G|914|ZNF717|protein_coding|CODING|NM_001290208.1|5|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His335Arg/c.1004A>G|864|ZNF717|protein_coding|CODING|NM_001290209.1|5|1),downstream_gene_variant(MODIFIER||106|||MIR4273||NON_CODING|NR_036235.1||1),intron_variant(MODIFIER|||c.277+2807A>G|114|ZNF717|protein_coding|CODING|NM_001290210.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,,,,,,,,,0.000(P),"-2.18,-2.18,-2.18(D,D,D)",0.8208(D),0.371,2.408565,1.92,1.92,0.445000,1.189000,2.021000,0.015000,0.018000,0.996000,7.9079
missense_variant,GBE1,MISSENSE,NM_000158.3:p.Ile334Val/c.1000A>G,Att/Gtt,MODERATE,,0.983626,0.999,rs2172397,1(T),"0.0,0.001(B,B)",-2.985(N),-0.9235(T),,chr3,81643167,81643167,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile334Val/c.1000A>G|702|GBE1|protein_coding|CODING|NM_000158.3|8|1),HepG2:H3K36me3,,,,0.9601,0.9885,0.9682,0.98,1.00,0.97,,0.000017(N),0.999(P),"-1.21,-1.21(T,T)",0.0000(T),0.193,-0.016658,5.65,5.65,-0.186000,1.402000,5.597000,0.500000,1.000000,1.000000,14.4933
missense_variant,GBE1,MISSENSE,NM_000158.3:p.Arg190Gly/c.568A>G,Aga/Gga,MODERATE,,0.321486,0.4425,rs2229519,0.02(D),"0.009,0.006(B,B)",2.91(M),-0.9255(T),,chr3,81698130,81698130,T,C,hom,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg190Gly/c.568A>G|702|GBE1|protein_coding|CODING|NM_000158.3|5|1),"HSMM:H3K36me3,HepG2:H3K36me3",,RCV000066196.2,,0.3129,0.3026,0.3052,0.29,0.28,0.30,,0.003563(N),0.423(P),"-2.15,-2.15(D,D)",0.0000(T),0.244,2.272762,5.92,4.81,0.533000,2.255000,3.477000,0.997000,1.000000,1.000000,3.4755
synonymous_variant,CHMP2B,SILENT,NM_014043.3:p.Thr104Thr/c.312T>C,acT/acC,LOW,,0.815695,0.9127,rs11540913,,,,,,chr3,87295049,87295049,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr63Thr/c.189T>C|172|CHMP2B|protein_coding|CODING|NM_001244644.1|2|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr104Thr/c.312T>C|213|CHMP2B|protein_coding|CODING|NM_014043.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,RCV000084272.1,,0.9294,0.9352,0.9384,0.82,0.58,0.94,,,,,,,,,,,,,,,,
missense_variant,ZNF654,MISSENSE,NM_018293.2:p.Ile294Thr/c.881T>C,aTa/aCa,MODERATE,COSM4158673(1),0.783147,0.8363,rs7653652,0.42(T),0.016(B),0.895(L),-0.9660(T),,chr3,88189341,88189341,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile294Thr/c.881T>C|581|ZNF654|protein_coding|CODING|NM_018293.2|1|1),intron_variant(MODIFIER|||c.-229+779A>G|167|CGGBP1|protein_coding|CODING|NM_001195308.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.907,0.8516,0.8429,0.79,0.64,0.86,,0.488201(N),0.000(P),1.33(T),0.0000(T),0.109,0.248031,5.87,4.73,0.533000,2.248000,0.909000,0.994000,1.000000,0.001000,7.981
synonymous_variant,C3orf38,SILENT,NM_173824.3:p.Thr32Thr/c.96T>C,acT/acC,LOW,,0.783347,0.8363,rs386603459,,,,,,chr3,88199298,88199298,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr32Thr/c.96T>C|329|C3orf38|protein_coding|CODING|NM_173824.3|1|1),upstream_gene_variant(MODIFIER||282||167|CGGBP1|protein_coding|CODING|NM_001195308.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,CD4:H2BK12ac,IMR90:H4K8ac",,,,0.907,0.8516,0.8429,0.77,0.62,0.85,,,,,,,,,,,,,,,,
missense_variant,ARL13B,MISSENSE,NM_001174150.1:p.Thr348Ser/c.1043C>G,aCt/aGt,MODERATE,COSM3760260(1),0.0776757,0.0863,rs33944211,0.09(T),"0.045,0.02,0.053,0.022(B,B,B,B)",1.845(L),-0.9537(T),,chr3,93768268,93768268,C,G,het,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr348Ser/c.1043C>G|428|ARL13B|protein_coding|CODING|NM_001174150.1|8|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr245Ser/c.734C>G|325|ARL13B|protein_coding|CODING|NM_001174151.1|7|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr241Ser/c.722C>G|321|ARL13B|protein_coding|CODING|NM_144996.3|6|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr348Ser/c.1043C>G|428|ARL13B|protein_coding|CODING|NM_182896.2|8|1),non_coding_exon_variant(MODIFIER|||n.1083C>G||ARL13B||CODING|NR_033427.1|7|1)",,,RCV000116417.2,,0.137,0.0764,0.1103,0.09,0.02,0.12,,0.217984(N),0.000(P),"1.71,-0.09,0.14,0.14,0.86(T,T,T,T,T)",0.0043(T),0.068,1.674564,5.08,3.02,0.585000,1.127000,0.592000,0.820000,1.000000,0.958000,12.4339
missense_variant,DHFRL1,MISSENSE,NM_001195643.1:p.Val166Ile/c.496G>A,Gtt/Att,MODERATE,COSM4158677(1),0.0772764,0.0863,rs17855824,0.22(T),0.341(B),1.175(L),-1.0769(T),,chr3,93779860,93779860,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val166Ile/c.496G>A|187|DHFRL1|protein_coding|CODING|NM_001195643.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val166Ile/c.496G>A|187|DHFRL1|protein_coding|CODING|NM_176815.4|2|1),upstream_gene_variant(MODIFIER||1995||340|NSUN3|protein_coding|CODING|NM_022072.3||1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.135,0.0764,0.1103,0.09,0.02,0.12,,0.006131(U),0.347(P),"-0.57,-0.57(T,T)",0.0037(T),0.016,1.200708,1.25,0.311,0.449000,0.106000,0.383000,0.795000,0.982000,0.044000,3.8637
missense_variant,DHFRL1,MISSENSE,NM_001195643.1:p.Pro83Ala/c.247C>G,Cct/Gct,MODERATE,COSM149430(3),0.122204,0.1141,rs61739170,0.74(T),0.004(B),0.565(N),-1.0897(T),,chr3,93780109,93780109,G,C,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro83Ala/c.247C>G|187|DHFRL1|protein_coding|CODING|NM_001195643.1|2|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro83Ala/c.247C>G|187|DHFRL1|protein_coding|CODING|NM_176815.4|2|1),upstream_gene_variant(MODIFIER||1746||340|NSUN3|protein_coding|CODING|NM_022072.3||1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0971,0.2032,0.2306,0.17,0.06,0.23,,0.000053(U),0.732(P),"-0.52,-0.52,-0.52(T,T,T)",0.0001(T),0.188,-1.107561,1.09,0.0854,-0.535000,0.028000,0.236000,0.620000,0.410000,0.974000,6.8106
synonymous_variant,EPHA6,SILENT,NM_001080448.2:p.Thr647Thr/c.1941C>T,acC/acT,LOW,COSM4002840(1),0.210463,0.0992,rs16838751,,,,,,chr3,97194242,97194242,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr647Thr/c.1941C>T|1130|EPHA6|protein_coding|CODING|NM_001080448.2|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr39Thr/c.117C>T|398|EPHA6|protein_coding|CODING|NM_001278300.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr39Thr/c.117C>T|334|EPHA6|protein_coding|CODING|NM_173655.3|6|1)",,,,,0.1084,0.2695,0.0885,0.18,0.37,0.09,,,,,,,,,,,,,,,,
missense_variant,EPHA6,MISSENSE,NM_001278300.1:p.Glu346Lys/c.1036G>A,Gag/Aag,MODERATE,,0.646366,0.6964,rs301948,0(D),0.001(B),,-0.9576(T),,chr3,97365038,97365038,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu346Lys/c.1036G>A|398|EPHA6|protein_coding|CODING|NM_001278300.1|12|1),intron_variant(MODIFIER|||c.961-2092G>A|334|EPHA6|protein_coding|CODING|NM_173655.3|12|1),intron_variant(MODIFIER|||c.2784+8112G>A|1130|EPHA6|protein_coding|CODING|NM_001080448.2|14|1)",,,,,0.6728,0.5692,0.5805,,,,,,1.000(P),-1.41(T),0.0000(T),0.253,0.371517,3.04,0.207,-0.824000,0.019000,0.571000,0.000000,0.001000,0.007000,2.779
missense_variant,EPHA6,MISSENSE,NM_001278300.1:p.Met358Val/c.1072A>G,Atg/Gtg,MODERATE,,0.660543,0.6974,rs301949,0(D),0.0(B),,-0.9571(T),,chr3,97365074,97365074,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met358Val/c.1072A>G|398|EPHA6|protein_coding|CODING|NM_001278300.1|12|1),intron_variant(MODIFIER|||c.961-2056A>G|334|EPHA6|protein_coding|CODING|NM_173655.3|12|1),intron_variant(MODIFIER|||c.2784+8148A>G|1130|EPHA6|protein_coding|CODING|NM_001080448.2|14|1)",,,,,0.6881,0.5749,0.5825,,,,,,1.000(P),-1.47(T),0.0000(T),0.124,-0.159092,3.28,-0.674,0.533000,-0.115000,-0.862000,0.026000,0.000000,0.000000,3.3288
missense_variant,CRYBG3,MISSENSE,NM_153605.3:p.Gln497Arg/c.1490A>G,cAg/cGg,MODERATE,,0.000599042,0,rs186224760,0.34(T),0.067(B),0.55(N),-1.0258(T),,chr3,97591528,97591528,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln497Arg/c.1490A>G|2970|CRYBG3|protein_coding|CODING|NM_153605.3|4|1),"CD4:H2AZ,NHEK:H3K27ac,IMR90:H3K4me2,CD4:H4K8ac,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,NH-A:DNase1,NH-A:H3K27ac,CD4:H4K5ac,HepG2:H3K36me3,NHEK:H3K4me2,CD4:H3K4me2,HMEC:DNase1,CD4:H3K9ac,NHEK:DNase1",,,,0,0.0014,0.002,,,,,,,,0.0542(T),0.087,1.829901,5.85,2.02,0.533000,0.494000,1.477000,0.512000,0.819000,0.245000,3.8462
synonymous_variant,CRYBG3,SILENT,NM_153605.3:p.Thr1114Thr/c.3342G>A,acG/acA,LOW,,0.139177,0.1756,rs2279898,,,,,,chr3,97593380,97593380,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1114Thr/c.3342G>A|2970|CRYBG3|protein_coding|CODING|NM_153605.3|4|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1544,0.1729,0.167,,,,,,,,,,,,,,,,,,,
missense_variant,CRYBG3,MISSENSE,NM_153605.3:p.Gly1408Glu/c.4223G>A,gGa/gAa,MODERATE,,0.474641,0.6766,rs6782766,,,,,,chr3,97594261,97594261,G,A,hom,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly1408Glu/c.4223G>A|2970|CRYBG3|protein_coding|CODING|NM_153605.3|4|1),HMEC:H3K36me3,,,,0.5082,0.5014,0.5099,,,,,,,,,,,,,,,,,,,
missense_variant,CRYBG3,MISSENSE,NM_153605.3:p.Asn2874His/c.8620A>C,Aat/Cat,MODERATE,COSM3765099(1),0.48143,0.6875,rs4857302,0.03(D),0.671(P),1.585(L),-1.0019(T),,chr3,97660106,97660106,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn2874His/c.8620A>C|2970|CRYBG3|protein_coding|CODING|NM_153605.3|20|1),downstream_gene_variant(MODIFIER||555||465|MINA|protein_coding|CODING|NM_001042533.2||1),downstream_gene_variant(MODIFIER||555||464|MINA|protein_coding|CODING|NM_001261829.1||1),downstream_gene_variant(MODIFIER||555||464|MINA|protein_coding|CODING|NM_032778.5||1),downstream_gene_variant(MODIFIER||555||465|MINA|protein_coding|CODING|NM_153182.3||1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5082,0.5101,0.5139,0.44,0.29,0.51,,0.040215(N),1.000(P),"1.6,1.6(T,T)",0.0000(T),0.148,1.501933,6.07,3.35,-1.463000,0.077000,0.703000,0.542000,0.181000,0.282000,5.9919
missense_variant,MINA,MISSENSE,NM_001042533.2:p.Ala386Thr/c.1156G>A,Gct/Act,MODERATE,COSM447109(1),0.478035,0.6746,rs2172257,0.65(T),"0.01,0.004(B,B)",0.235(N),-1.0267(T),,chr3,97664725,97664725,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala386Thr/c.1156G>A|465|MINA|protein_coding|CODING|NM_001042533.2|9|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala385Thr/c.1153G>A|464|MINA|protein_coding|CODING|NM_001261829.1|9|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala385Thr/c.1153G>A|464|MINA|protein_coding|CODING|NM_032778.5|9|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala386Thr/c.1156G>A|465|MINA|protein_coding|CODING|NM_153182.3|9|1),downstream_gene_variant(MODIFIER||895||2970|CRYBG3|protein_coding|CODING|NM_153605.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5061,0.5101,0.5119,0.44,0.29,0.51,,0.162312(N),1.000(P),"2.71,2.71,2.7(T,T,T)",0.0000(T),0.076,0.945657,6.06,1.6,0.650000,0.311000,-0.512000,0.733000,0.999000,0.066000,5.47
synonymous_variant,MINA,SILENT,NM_001042533.2:p.Ser251Ser/c.753T>G,tcT/tcG,LOW,,0.993011,0.9831,rs832079,,,,,,chr3,97673268,97673268,A,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser251Ser/c.753T>G|465|MINA|protein_coding|CODING|NM_001042533.2|5|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser251Ser/c.753T>G|464|MINA|protein_coding|CODING|NM_001261829.1|5|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser251Ser/c.753T>G|464|MINA|protein_coding|CODING|NM_032778.5|5|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser251Ser/c.753T>G|465|MINA|protein_coding|CODING|NM_153182.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.9908,0.9957,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
stop_lost,GABRR3,MISSENSE,NM_001105580.2:p.Ter205Tyrext*?/c.615A>T,taA/taT,HIGH,COSM1425913(1),0.827276,0.9861,rs832032,,,,,,chr3,97726747,97726747,T,A,hom,"stop_lost(HIGH|MISSENSE|taA/taT|p.Ter205Tyrext*?/c.615A>T|467|GABRR3|protein_coding|CODING|NM_001105580.2|7|1),splice_region_variant(LOW|||c.615A>T|467|GABRR3|protein_coding|CODING|NM_001105580.2|7|1),splice_region_variant(LOW|||n.732A>T||GABRR3||CODING|NR_047685.1|7|1),non_coding_exon_variant(MODIFIER|||n.732A>T||GABRR3||CODING|NR_047685.1|7|1)",HUVEC:H3K27me3,,,,0.8313,0.8256,0.8062,0.78,0.74,0.80,,,,,,,,,,,,,,,,
missense_variant,OR5AC2,MISSENSE,NM_054106.1:p.Met200Ile/c.600G>A,atG/atA,MODERATE,,0.523363,0.4454,rs4518168,0.18(T),0.01(B),0.925(L),-0.9132(T),,chr3,97806616,97806616,G,A,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met200Ile/c.600G>A|309|OR5AC2|protein_coding|CODING|NM_054106.1|1|1),,,,,0.5818,0.5461,0.505,0.52,0.52,0.51,,0.166479(N),1.000(P),1.27(T),0.0000(T),0.081,0.744366,4.51,1.48,-0.555000,0.107000,0.308000,0.162000,0.001000,0.000000,3.4285
missense_variant,OR5H1,MISSENSE,NM_001005338.1:p.Ile153Leu/c.457A>C,Att/Ctt,MODERATE,COSM3760267(4),0.631789,0.5228,rs79920650,0.46(T),0.004(B),-0.52(N),-0.9287(T),,chr3,97851998,97851998,A,C,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile153Leu/c.457A>C|313|OR5H1|protein_coding|CODING|NM_001005338.1|1|1),,,,,0.5675,0.585,0.5358,0.56,0.75,0.46,,0.883552(N),1.000(P),8.96(T),0.0000(T),0.039,-2.165406,3.57,-7.14,-2.936000,-4.249000,-4.526000,0.001000,0.000000,0.000000,0.9476
missense_variant,OR5H1,MISSENSE,NM_001005338.1:p.Thr181Ile/c.542C>T,aCt/aTt,MODERATE,COSM4002844(2),0.623602,0.5228,rs9826076,1(T),0.0(B),-1.925(N),-0.9678(T),,chr3,97852083,97852083,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr181Ile/c.542C>T|313|OR5H1|protein_coding|CODING|NM_001005338.1|1|1),,,,,0.5634,0.5807,0.5328,,,,,0.006654(N),1.000(P),1.33(T),0.0000(T),0.075,-3.165429,3.57,3.57,-1.297000,0.444000,0.500000,0.032000,0.002000,0.000000,7.0448
missense_variant,OR5H1,MISSENSE,NM_001005338.1:p.Ser230Thr/c.688T>A,Tct/Act,MODERATE,COSM4002845(2),0.236222,0.131,rs9849637,0.02(D),0.999(D),2.68(M),-0.9978(T),,chr3,97852229,97852229,T,A,het,missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser230Thr/c.688T>A|313|OR5H1|protein_coding|CODING|NM_001005338.1|1|1),,,,,0.2168,0.0937,0.1571,0.24,0.42,0.16,,0.000293(D),1.000(P),8.1(T),0.0000(T),0.079,1.071102,3.57,3.57,0.164000,1.481000,0.961000,0.003000,0.212000,0.027000,10.1009
synonymous_variant,OR5H1,SILENT,NM_001005338.1:p.Leu250Leu/c.750A>G,ttA/ttG,LOW,,0.00359425,0,rs112819024,,,,,,chr3,97852291,97852291,A,G,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu250Leu/c.750A>G|313|OR5H1|protein_coding|CODING|NM_001005338.1|1|1),,,,,0.0051,0.0029,0.0099,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,OR5H14,MISSENSE,NM_001005514.1:p.Gly64Arg/c.190G>A,Ggg/Agg,MODERATE,COSM3760268(2),0.57528,0.5228,rs4241468,0.04(D),0.933(D),0.95(L),-1.0585(T),,chr3,97868419,97868419,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly64Arg/c.190G>A|310|OR5H14|protein_coding|CODING|NM_001005514.1|1|1),,,,,0.5603,0.5634,0.5298,0.59,0.67,0.54,,0.017240(N),1.000(P),3.63(T),0.0000(T),0.262,1.957996,2.49,1.57,0.195000,1.380000,-0.422000,0.030000,0.312000,0.000000,3.3194
synonymous_variant,OR5H14,SILENT,NM_001005514.1:p.Pro129Pro/c.387C>T,ccC/ccT,LOW,COSM4002846(2),0.631989,0.5238,rs4379004,,,,,,chr3,97868616,97868616,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro129Pro/c.387C>T|310|OR5H14|protein_coding|CODING|NM_001005514.1|1|1),,,,,0.5675,0.585,0.5358,0.57,0.75,0.48,,,,,,,,,,,,,,,,
missense_variant,OR5H14,MISSENSE,NM_001005514.1:p.Tyr189Cys/c.566A>G,tAt/tGt,MODERATE,COSM3760269(2),0.631589,0.5228,rs4857076,1(T),0.0(B),-3.695(N),-0.8914(T),,chr3,97868795,97868795,A,G,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr189Cys/c.566A>G|310|OR5H14|protein_coding|CODING|NM_001005514.1|1|1),,,,,0.5675,0.585,0.5348,0.63,0.81,0.54,,0.000099(N),0.941(P),10.23(T),0.0000(T),0.064,-1.206011,2.49,2.49,-1.063000,0.372000,3.742000,0.012000,0.147000,1.000000,7.3418
synonymous_variant,OR5H14,SILENT,NM_001005514.1:p.Ser247Ser/c.741T>A,tcT/tcA,LOW,COSM3760270(2),0.586462,0.5198,rs12639519,,,,,,chr3,97868970,97868970,T,A,het,synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser247Ser/c.741T>A|310|OR5H14|protein_coding|CODING|NM_001005514.1|1|1),,,,,0.5634,0.5648,0.5278,,,,,,,,,,,,,,,,,,,
missense_variant,OR5H15,MISSENSE,NM_001005515.1:p.Val108Ile/c.322G>A,Gta/Ata,MODERATE,COSM3760271(3),0.591054,0.5079,rs4133320,0.59(T),0.003(B),0.82(L),-1.0973(T),,chr3,97887865,97887865,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val108Ile/c.322G>A|313|OR5H15|protein_coding|CODING|NM_001005515.1|1|1),,,,,0.5685,0.572,0.5338,0.59,0.69,0.54,,0.946155(N),1.000(P),7.57(T),0.0000(T),0.019,-1.917797,2.48,1.59,-1.109000,0.287000,0.630000,0.005000,0.290000,0.000000,8.2595
synonymous_variant,OR5H15,SILENT,NM_001005515.1:p.Asn138Asn/c.414T>C,aaT/aaC,LOW,,0.0081869,0,rs143003334,,,,,,chr3,97887957,97887957,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn138Asn/c.414T>C|313|OR5H15|protein_coding|CODING|NM_001005515.1|1|1),,,,,0.0031,0.0101,0.0258,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,OR5H15,MISSENSE,NM_001005515.1:p.Ser148Thr/c.442T>A,Tca/Aca,MODERATE,COSM3760272(2),0.566693,0.5079,rs4133321,0.25(T),0.1(B),1.99(M),-0.9562(T),,chr3,97887985,97887985,T,A,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser148Thr/c.442T>A|313|OR5H15|protein_coding|CODING|NM_001005515.1|1|1),,,,,0.5685,0.5663,0.5338,0.57,0.62,0.54,,0.001454(N),1.000(P),1.17(T),0.0000(T),0.107,1.445313,2.48,2.48,0.155000,1.138000,-0.728000,0.018000,0.004000,0.000000,5.6064
missense_variant,OR5H15,MISSENSE,NM_001005515.1:p.Thr167Ser/c.499A>T,Acc/Tcc,MODERATE,COSM3760273(2),0.566693,0.5079,rs4133322,1(T),0.491(P),-0.41(N),-1.0722(T),,chr3,97888042,97888042,A,T,het,missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr167Ser/c.499A>T|313|OR5H15|protein_coding|CODING|NM_001005515.1|1|1),,,,,0.5685,0.5663,0.5338,0.57,0.62,0.54,,0.005690(N),1.000(P),8.74(T),0.0000(T),0.042,-0.544830,2.48,1.26,0.155000,0.197000,-0.990000,0.082000,0.925000,0.000000,2.1534
synonymous_variant,OR5H15,SILENT,NM_001005515.1:p.Tyr218Tyr/c.654C>T,taC/taT,LOW,COSM3760274(2),0.626597,0.5079,rs7623031,,,,,,chr3,97888197,97888197,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr218Tyr/c.654C>T|313|OR5H15|protein_coding|CODING|NM_001005515.1|1|1),,,,,0.5685,0.5807,0.5368,0.63,0.80,0.54,,,,,,,,,,,,,,,,
missense_variant,OR5H15,MISSENSE,NM_001005515.1:p.Pro265Leu/c.794C>T,cCg/cTg,MODERATE,COSM3760275(2),0.312101,0.4782,rs13082608,0.14(T),0.009(B),0.55(N),-1.1298(T),,chr3,97888337,97888337,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro265Leu/c.794C>T|313|OR5H15|protein_coding|CODING|NM_001005515.1|1|1),,,,,0.3313,0.3444,0.1819,0.20,0.23,0.18,,0.503515(N),1.000(P),8.77(T),0.0000(T),0.074,-0.026185,2.48,0.278,0.184000,0.370000,-2.925000,0.003000,0.000000,0.000000,5.1938
missense_variant,OR5H15,MISSENSE,NM_001005515.1:p.Val299Leu/c.895G>C,Gtt/Ctt,MODERATE,,0.0323482,0.0923,rs72487748,0.29(T),0.007(B),0.575(N),-1.0414(T),,chr3,97888438,97888438,G,C,het,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val299Leu/c.895G>C|313|OR5H15|protein_coding|CODING|NM_001005515.1|1|1),,,,,0.0072,0.0432,0.0288,0.01,0.00,0.02,,0.388667(N),1.000(N),1.24(T),0.0020(T),0.078,0.280513,2.48,0.37,0.184000,-0.064000,-0.012000,0.006000,0.001000,0.000000,0.8867
synonymous_variant,OR5H6,SILENT,NM_001005479.1:p.Leu43Leu/c.129C>G,ctC/ctG,LOW,COSM1179810(1),0.708866,0.621,rs2132894,,,,,,chr3,97983257,97983257,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu43Leu/c.129C>G|325|OR5H6|protein_coding|CODING|NM_001005479.1|1|1),,,,,0.638,0.6268,0.6909,0.74,0.86,0.68,,,,,,,,,,,,,,,,
missense_variant,OR5H6,MISSENSE,NM_001005479.1:p.Ser88Leu/c.263C>T,tCg/tTg,MODERATE,,0.380591,0.1319,rs2173236,0.03(D),0.001(B),0.08(N),-0.9542(T),,chr3,97983391,97983391,C,T,hom,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser88Leu/c.263C>T|325|OR5H6|protein_coding|CODING|NM_001005479.1|1|1),,,,,0.3814,0.3559,0.5636,0.64,0.67,0.63,,0.267059(N),1.000(N),7.44(T),0.0000(T),0.037,0.817682,2.19,-4.15,-3.652000,-1.226000,0.046000,0.006000,0.001000,0.000000,6.4188
missense_variant,OR5H6,MISSENSE,NM_001005479.1:p.Ala145Pro/c.433G>C,Gct/Cct,MODERATE,,0.704673,0.621,rs9289564,1(T),0.0(B),-3.54(N),-0.9694(T),,chr3,97983561,97983561,G,C,hom,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala145Pro/c.433G>C|325|OR5H6|protein_coding|CODING|NM_001005479.1|1|1),,,,,0.6329,0.6254,0.6909,0.74,0.85,0.68,,0.000260(N),1.000(P),8.7(T),0.0000(T),0.095,-1.122450,2.19,1.25,-1.041000,-0.117000,2.270000,0.017000,0.852000,0.927000,5.9031
missense_variant,OR5H6,MISSENSE,NM_001005479.1:p.Cys195Arg/c.583T>C,Tgt/Cgt,MODERATE,,0.625,0.621,rs9853887,0(D),0.991(D),4.42(H),-0.9001(T),,chr3,97983711,97983711,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys195Arg/c.583T>C|325|OR5H6|protein_coding|CODING|NM_001005479.1|1|1),,,,,0.638,0.598,0.6849,0.66,0.63,0.68,,0.000088(D),0.000(P),0.02(T),0.0000(T),0.21,2.722741,2.19,2.19,0.163000,1.006000,6.506000,0.148000,0.997000,1.000000,7.9658
missense_variant,OR5H6,MISSENSE,NM_001005479.1:p.Thr272Ala/c.814A>G,Acc/Gcc,MODERATE,,0.663339,0.621,rs9853906,0.3(T),0.0(B),0.19(N),-0.9913(T),,chr3,97983942,97983942,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr272Ala/c.814A>G|325|OR5H6|protein_coding|CODING|NM_001005479.1|1|1),,,,,0.638,0.6167,0.6899,0.69,0.71,0.68,,0.881891(N),1.000(P),1.24(T),0.0000(T),0.011,0.718720,2.19,-0.0364,-1.032000,-0.639000,-5.389000,0.004000,0.092000,0.000000,6.2892
missense_variant,OR5H6,MISSENSE,NM_001005479.1:p.Asp285Asn/c.853G>A,Gac/Aac,MODERATE,COSM149433(3),0.318091,0.1319,rs9871143,0.05(D),0.16(B),1.34(L),-1.1017(T),,chr3,97983981,97983981,G,A,hom,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp285Asn/c.853G>A|325|OR5H6|protein_coding|CODING|NM_001005479.1|1|1),,,,,0.3814,0.3372,0.5616,0.45,0.25,0.56,,0.093671(N),1.000(P),8.67(T),0.0000(T),0.033,0.866164,2.19,2.19,0.194000,1.220000,0.591000,0.166000,0.102000,0.000000,6.8129
synonymous_variant,CPOX,SILENT,NM_000097.5:p.Glu330Glu/c.990A>G,gaA/gaG,LOW,,0.753994,0.7321,rs1729995,,,,,,chr3,98304467,98304467,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu330Glu/c.990A>G|454|CPOX|protein_coding|CODING|NM_000097.5|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:Cfos,NH-A:DNase1,IMR90:H3K36me3,K562:Cjun,K562:FOSL1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:H3K4me2,NHEK:DNase1,K562:DNase1,K562:Jund",,,,0.6881,0.6744,0.7048,0.74,0.87,0.68,,,,,,,,,,,,,,,,
synonymous_variant,DCBLD2,SILENT,NM_080927.3:p.Ile262Ile/c.786C>T,atC/atT,LOW,COSM3760289(2),0.385982,0.6806,rs386616630,,,,,,chr3,98541116,98541116,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile262Ile/c.786C>T|775|DCBLD2|protein_coding|CODING|NM_080927.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.4213,0.5115,0.3757,0.28,0.12,0.35,,,,,,,,,,,,,,,,
missense_variant,FILIP1L,MISSENSE,NM_182909.3:p.Arg168His/c.503G>A,cGt/cAt,MODERATE,COSM4002864(1),0.253395,0.1954,rs793440,1(T),"0.0,0.0(B,B)",-2.605(N),-0.9676(T),,chr3,99643176,99643176,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg168His/c.503G>A|1133|FILIP1L|protein_coding|CODING|NM_001042459.2|4|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg168His/c.503G>A|1135|FILIP1L|protein_coding|CODING|NM_182909.3|4|1),intron_variant(MODIFIER|||c.64+106289C>T|279|CMSS1|protein_coding|CODING|NM_032359.3|1|1),intron_variant(MODIFIER|||n.36-56504G>A||MIR548G||NON_CODING|NR_031662.1|1|1)",HepG2:DNase1,,,,0.3139,0.3545,0.3111,0.29,0.19,0.33,,0.033358(N),0.000(P),"1.0,1.0,1.0(T,T,T)",0.0000(T),0.065,0.177581,5.5,5.5,-0.352000,0.931000,5.664000,0.478000,0.927000,1.000000,11.5161
missense_variant,CMSS1,MISSENSE,NM_032359.3:p.Val166Ile/c.496G>A,Gtc/Atc,MODERATE,,0.120208,0.0417,rs11537816,,,0.175(N),-1.0190(T),,chr3,99886662,99886662,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val148Ile/c.442G>A|261|CMSS1|protein_coding|CODING|NM_001167924.1|6|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val166Ile/c.496G>A|279|CMSS1|protein_coding|CODING|NM_032359.3|6|1)","NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2147,0.2233,0.162,0.13,0.05,0.18,,,1.000(P),,0.0000(T),.,1.581789,5.62,-8.83,-1.760000,-1.984000,-0.461000,0.663000,0.082000,0.000000,14.5932
synonymous_variant,LNP1,SILENT,NM_001085451.1:p.Glu163Glu/c.489G>A,gaG/gaA,LOW,,0.484425,0.7222,rs1132022,,,,,,chr3,100174722,100174722,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu163Glu/c.489G>A|178|LNP1|protein_coding|CODING|NM_001085451.1|4|1),HepG2:H3K36me3,,,,0.4826,0.4409,0.4205,0.39,0.35,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TMEM45A,SILENT,NM_018004.1:p.Tyr229Tyr/c.687T>C,taT/taC,LOW,COSM4002347(1),0.2498,0.3185,rs28722928,,,,,,chr3,100287764,100287764,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr229Tyr/c.687T>C|275|TMEM45A|protein_coding|CODING|NM_018004.1|5|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1309,0.2493,0.1213,0.20,0.34,0.12,,,,,,,,,,,,,,,,
missense_variant,GPR128,MISSENSE,NM_032787.2:p.Lys425Arg/c.1274A>G,aAa/aGa,MODERATE,COSM4002348(1),0.121605,0.251,rs61730367,0.78(T),"0.003,0.001(B,B)",0.66(N),-0.9673(T),,chr3,100368546,100368546,A,G,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys425Arg/c.1274A>G|797|GPR128|protein_coding|CODING|NM_032787.2|11|1),,,,,0.0879,0.1643,0.0497,0.06,0.08,0.05,,0.930924(N),1.000(P),"1.15,1.46(T,T)",0.0000(T),0.023,1.351018,5.49,-1.61,-0.327000,-0.200000,-0.066000,0.455000,0.560000,0.001000,5.1415
synonymous_variant,TFG,SILENT,NM_001007565.2:p.Pro282Pro/c.846T>C,ccT/ccC,LOW,COSM4157088(1),0.713059,0.6518,rs11353,,,,-1.0264(T),,chr3,100467018,100467018,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro282Pro/c.846T>C|400|TFG|protein_coding|CODING|NM_001007565.2|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro282Pro/c.846T>C|400|TFG|protein_coding|CODING|NM_001195478.1|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro278Pro/c.834T>C|396|TFG|protein_coding|CODING|NM_001195479.1|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro282Pro/c.846T>C|400|TFG|protein_coding|CODING|NM_006070.5|8|1),downstream_gene_variant(MODIFIER||1161||1075|ABI3BP|protein_coding|CODING|NM_015429.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8753,0.8055,0.6412,0.66,0.65,0.66,,,0.000(P),,0.0000(T),.,0.059524,5.64,4.77,-0.128000,0.953000,1.055000,0.890000,1.000000,1.000000,5.7931
synonymous_variant,ABI3BP,SILENT,NM_015429.3:p.Ser136Ser/c.408G>A,tcG/tcA,LOW,,0.728035,0.9335,rs2245370,,,,,,chr3,100617680,100617680,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser136Ser/c.408G>A|1075|ABI3BP|protein_coding|CODING|NM_015429.3|4|1),"HSMM:H3K36me3,HUVEC:H3K4me1",,,,0.7342,0.6715,0.5239,0.56,0.70,0.49,,,,,,,,,,,,,,,,
synonymous_variant,IMPG2,SILENT,NM_016247.3:p.Leu1127Leu/c.3381C>T,ctC/ctT,LOW,,0.812899,0.8244,rs348867,,,,,,chr3,100949842,100949842,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1127Leu/c.3381C>T|1241|IMPG2|protein_coding|CODING|NM_016247.3|16|1),,,,,0.7771,0.8242,0.8052,0.80,0.82,0.78,,,,,,,,,,,,,,,,
synonymous_variant,SENP7,SILENT,NM_020654.4:p.Glu496Glu/c.1488A>G,gaA/gaG,LOW,COSM3723513(2),0.427716,0.4901,rs386611995,,,,,,chr3,101080694,101080694,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu431Glu/c.1293A>G|985|SENP7|protein_coding|CODING|NM_001077203.2|10|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu430Glu/c.1290A>G|984|SENP7|protein_coding|CODING|NM_001282801.1|10|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu463Glu/c.1389A>G|1017|SENP7|protein_coding|CODING|NM_001282802.1|10|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu332Glu/c.996A>G|886|SENP7|protein_coding|CODING|NM_001282803.1|8|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu496Glu/c.1488A>G|1050|SENP7|protein_coding|CODING|NM_020654.4|11|1)",HSMM:H3K36me3,,,,0.3988,0.5533,0.4115,0.37,0.32,0.40,,,,,,,,,,,,,,,,
synonymous_variant,SENP7,SILENT,NM_020654.4:p.Thr393Thr/c.1179C>T,acC/acT,LOW,,0.427117,0.4831,rs386622327,,,,,,chr3,101085413,101085413,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr328Thr/c.984C>T|985|SENP7|protein_coding|CODING|NM_001077203.2|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr327Thr/c.981C>T|984|SENP7|protein_coding|CODING|NM_001282801.1|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr360Thr/c.1080C>T|1017|SENP7|protein_coding|CODING|NM_001282802.1|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr229Thr/c.687C>T|886|SENP7|protein_coding|CODING|NM_001282803.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr393Thr/c.1179C>T|1050|SENP7|protein_coding|CODING|NM_020654.4|9|1)","K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3",,,,0.3988,0.5533,0.4125,0.38,0.32,0.40,,,,,,,,,,,,,,,,
missense_variant,TRMT10C,MISSENSE,NM_017819.3:p.Pro56Arg/c.167C>G,cCc/cGc,MODERATE,,0.136781,0.1171,rs3762735,0.1(T),0.002(B),0.895(L),-1.0662(T),,chr3,101283792,101283792,C,G,het,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro56Arg/c.167C>G|403|TRMT10C|protein_coding|CODING|NM_017819.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.2127,0.1066,0.1461,0.14,0.10,0.16,,0.887801(N),1.000(P),"2.56,1.96(T,T)",0.0002(T),0.062,0.642048,6.03,5.16,0.655000,1.545000,1.431000,0.440000,0.084000,0.001000,9.8176
synonymous_variant,CEP97,SILENT,NM_024548.2:p.Gln846Gln/c.2538G>A,caG/caA,LOW,,0.904952,0.9901,rs2625282,,,,,,chr3,101484335,101484335,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln846Gln/c.2538G>A|865|CEP97|protein_coding|CODING|NM_024548.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8344,0.9323,0.9016,0.90,0.88,0.91,,,,,,,,,,,,,,,,
synonymous_variant,NFKBIZ,SILENT,NM_031419.3:p.Leu659Leu/c.1975T>C,Ttg/Ctg,LOW,COSM4157106(1),0.534345,0.4405,rs14134,,,,,,chr3,101576175,101576175,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu559Leu/c.1675T>C|618|NFKBIZ|protein_coding|CODING|NM_001005474.2|12|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu659Leu/c.1975T>C|718|NFKBIZ|protein_coding|CODING|NM_031419.3|11|1)","H1ESC:H3K36me3,GM12878:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4836,0.6772,0.6282,0.59,0.52,0.63,,,,,,,,,,,,,,,,
missense_variant,ALCAM,MISSENSE,NM_001627.3:p.Asn258Ser/c.773A>G,aAt/aGt,MODERATE,COSM3759579(1),0.0830671,0.0258,rs1044240,0.85(T),"0.003,0.006(B,B)",-0.805(N),-0.9137(T),,chr3,105258861,105258861,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn258Ser/c.773A>G|570|ALCAM|protein_coding|CODING|NM_001243280.1|7|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn258Ser/c.773A>G|555|ALCAM|protein_coding|CODING|NM_001243281.1|7|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn258Ser/c.773A>G|583|ALCAM|protein_coding|CODING|NM_001627.3|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1585,0.0677,0.1779,0.12,0.03,0.17,,0.842049(N),0.000(P),"2.86,2.86,2.86(T,T,T)",0.0000(T),0.009,-0.023512,5.86,-5.31,-3.035000,-1.557000,0.006000,0.852000,0.625000,0.960000,12.2865
synonymous_variant,ALCAM,SILENT,NM_001627.3:p.Leu300Leu/c.900G>A,ctG/ctA,LOW,COSM3759580(1),0.236821,0.1548,rs579565,,,,,,chr3,105260518,105260518,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu300Leu/c.900G>A|570|ALCAM|protein_coding|CODING|NM_001243280.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu300Leu/c.900G>A|555|ALCAM|protein_coding|CODING|NM_001243281.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu300Leu/c.900G>A|583|ALCAM|protein_coding|CODING|NM_001627.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.18,0.3084,0.2366,0.24,0.29,0.22,,,,,,,,,,,,,,,,
synonymous_variant,ALCAM,SILENT,NM_001627.3:p.Ala326Ala/c.978T>C,gcT/gcC,LOW,,0.960863,1,rs599278,,,,,,chr3,105260596,105260596,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala326Ala/c.978T>C|570|ALCAM|protein_coding|CODING|NM_001243280.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala326Ala/c.978T>C|555|ALCAM|protein_coding|CODING|NM_001243281.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala326Ala/c.978T>C|583|ALCAM|protein_coding|CODING|NM_001627.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.987,0.999,0.96,0.89,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CBLB,SILENT,NM_170662.3:p.Thr527Thr/c.1581G>A,acG/acA,LOW,,0.750998,0.7788,rs2305037,,,,,,chr3,105422844,105422844,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr527Thr/c.1581G>A|982|CBLB|protein_coding|CODING|NM_170662.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.8252,0.6844,0.7187,0.74,0.74,0.73,,,,,,,,,,,,,,,,
missense_variant,CCDC54,MISSENSE,NM_032600.2:p.Arg38Gln/c.113G>A,cGg/cAg,MODERATE,,0.499201,0.8919,rs709564,0.64(T),0.003(B),-0.08(N),-1.0038(T),,chr3,107096547,107096547,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg38Gln/c.113G>A|328|CCDC54|protein_coding|CODING|NM_032600.2|1|1),,,,,0.5399,0.5216,0.2545,0.27,0.33,0.24,,0.937852(N),1.000(P),1.01(T),0.0000(T),0.031,-1.878422,5.44,-1.05,-0.482000,-0.180000,-0.131000,0.112000,0.045000,0.000000,8.8703
synonymous_variant,CCDC54,SILENT,NM_032600.2:p.Thr304Thr/c.912C>A,acC/acA,LOW,COSM3759585(1),0.0690895,0.0357,rs3811061,,,,,,chr3,107097346,107097346,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr304Thr/c.912C>A|328|CCDC54|protein_coding|CODING|NM_032600.2|1|1),,,,,0.1094,0.0692,0.1272,0.08,0.04,0.11,,,,,,,,,,,,,,,,
missense_variant,HHLA2,MISSENSE,NM_001282556.1:p.Ile30Thr/c.89T>C,aTt/aCt,MODERATE,COSM4002362(1),0.590455,0.2093,rs6779254,0.07(T),"0.0,0.0(B,B)",-0.345(N),-0.9648(T),,chr3,108072298,108072298,T,C,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile30Thr/c.89T>C|414|HHLA2|protein_coding|CODING|NM_001282556.1|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile30Thr/c.89T>C|414|HHLA2|protein_coding|CODING|NM_001282557.1|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile30Thr/c.89T>C|397|HHLA2|protein_coding|CODING|NM_001282558.1|5|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile30Thr/c.89T>C|414|HHLA2|protein_coding|CODING|NM_007072.3|4|1),intron_variant(MODIFIER|||c.135-238T>C|350|HHLA2|protein_coding|CODING|NM_001282559.1|4|1)",,,,,0.6176,0.5965,0.6839,0.70,0.77,0.68,,0.066036(N),1.000(P),"2.53,5.01,2.53,0.95,5.01,5.01,5.01(T,T,T,T,T,T,T)",0.0000(T),0.314,-0.775062,5.38,-7.67,-1.779000,-1.645000,-2.268000,0.000000,0.000000,0.000000,1.5999
synonymous_variant,HHLA2,SILENT,NM_001282556.1:p.Ala354Ala/c.1062G>A,gcG/gcA,LOW,COSM3759591(1),0.154353,0.0536,rs16854512,,,,-1.0136(T),,chr3,108081247,108081247,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala354Ala/c.1062G>A|414|HHLA2|protein_coding|CODING|NM_001282556.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala354Ala/c.1062G>A|414|HHLA2|protein_coding|CODING|NM_001282557.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala354Ala/c.1062G>A|397|HHLA2|protein_coding|CODING|NM_001282558.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala290Ala/c.870G>A|350|HHLA2|protein_coding|CODING|NM_001282559.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala354Ala/c.1062G>A|414|HHLA2|protein_coding|CODING|NM_007072.3|7|1)",HUVEC:H3K27me3,,,,0.1074,0.1686,0.1928,0.20,0.20,0.20,,,1.000(P),,0.0000(T),.,-0.264632,3.38,0.437,-0.258000,0.067000,-0.619000,0.003000,0.000000,0.000000,2.5227
missense_variant,HHLA2,MISSENSE,NM_001282556.1:p.Ser364Arg/c.1092C>A,agC/agA,MODERATE,,0.109026,0.001,rs6779094,,,0(N),-0.9964(T),,chr3,108081277,108081277,C,A,het,"missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser364Arg/c.1092C>A|414|HHLA2|protein_coding|CODING|NM_001282556.1|7|1),missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser364Arg/c.1092C>A|414|HHLA2|protein_coding|CODING|NM_001282557.1|7|1),missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser364Arg/c.1092C>A|397|HHLA2|protein_coding|CODING|NM_001282558.1|8|1),missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser300Arg/c.900C>A|350|HHLA2|protein_coding|CODING|NM_001282559.1|8|1),missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser364Arg/c.1092C>A|414|HHLA2|protein_coding|CODING|NM_007072.3|7|1)",HUVEC:H3K27me3,,,,0.0961,0.1571,0.2336,0.20,0.12,0.23,,,1.000(P),,0.0000(T),.,-0.830853,3.98,-7.96,-1.066000,-3.721000,-2.044000,0.012000,0.000000,0.000000,5.9093
synonymous_variant,HHLA2,SILENT,NM_001282556.1:p.Glu395Glu/c.1185G>A,gaG/gaA,LOW,COSM4157117(1),0.0896565,0.001,rs2124736,,,,-0.9822(T),,chr3,108095365,108095365,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu395Glu/c.1185G>A|414|HHLA2|protein_coding|CODING|NM_001282556.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu395Glu/c.1185G>A|414|HHLA2|protein_coding|CODING|NM_001282557.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu378Glu/c.1134G>A|397|HHLA2|protein_coding|CODING|NM_001282558.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu331Glu/c.993G>A|350|HHLA2|protein_coding|CODING|NM_001282559.1|10|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu395Glu/c.1185G>A|414|HHLA2|protein_coding|CODING|NM_007072.3|9|1)",,,,,0.092,0.1527,0.2326,0.18,0.06,0.23,,,1.000(P),,0.0000(T),.,-0.526518,3.44,-2.48,0.561000,-0.545000,-0.141000,0.001000,0.000000,0.000000,1.081
synonymous_variant,MYH15,SILENT,NM_014981.1:p.Gly1329Gly/c.3987G>A,ggG/ggA,LOW,COSM3759593(1),0.209864,0.5496,rs9873504,,,,,,chr3,108135680,108135680,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1329Gly/c.3987G>A|1946|MYH15|protein_coding|CODING|NM_014981.1|30|1),,,,,0.1881,0.1686,0.0398,0.07,0.12,0.05,,,,,,,,,,,,,,,,
synonymous_variant,MYH15,SILENT,NM_014981.1:p.Leu1186Leu/c.3558G>T,ctG/ctT,LOW,,0.0523163,0,rs61745179,,,,,,chr3,108147543,108147543,C,A,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu1186Leu/c.3558G>T|1946|MYH15|protein_coding|CODING|NM_014981.1|28|1),,,,,0.044,0.0504,0.0915,0.08,0.06,0.08,,,,,,,,,,,,,,,,
missense_variant,MYH15,MISSENSE,NM_014981.1:p.Thr949Ile/c.2846C>T,aCt/aTt,MODERATE,COSM3759595(1),0.188698,0.5605,rs12638212,0.04(D),0.271(B),2.43(M),-0.9341(T),,chr3,108159977,108159977,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr949Ile/c.2846C>T|1946|MYH15|protein_coding|CODING|NM_014981.1|24|1),,,,,0.1769,0.1614,0.0427,0.04,0.04,0.05,,,0.406(P),-2.5(D),0.0000(T),0.052,2.692092,5.82,2.77,0.585000,1.432000,3.208000,0.996000,1.000000,1.000000,9.5507
synonymous_variant,DZIP3,SILENT,NM_014648.3:p.Pro969Pro/c.2907T>C,ccT/ccC,LOW,,0.998403,1,rs9856097,,,,,,chr3,108403086,108403086,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro969Pro/c.2907T>C|1208|DZIP3|protein_coding|CODING|NM_014648.3|27|1),,,,,0.999,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,GUCA1C,MISSENSE,NM_005459.3:p.Met85Val/c.253A>G,Atg/Gtg,MODERATE,,0.337061,0.25,rs6804162,0.91(T),"0.0,0.0(B,B)",0.115(N),-0.9307(T),,chr3,108639384,108639384,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met85Val/c.253A>G|209|GUCA1C|protein_coding|CODING|NM_005459.3|2|1),,,,,0.3057,0.2522,0.3807,0.38,0.42,0.36,,0.001229(N),1.000(P),"1.03,1.03,1.03(T,T,T)",0.0000(T),0.011,0.377909,5.17,3.1,-0.186000,0.598000,-0.034000,0.729000,0.005000,0.009000,2.791
missense_variant,GUCA1C,MISSENSE,NM_005459.3:p.Val72Ile/c.214G>A,Gtt/Att,MODERATE,,0.621605,0.379,rs2715687,1(T),"0.0,0.0(B,B)",-1.33(N),-0.9181(T),,chr3,108639423,108639423,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val72Ile/c.214G>A|209|GUCA1C|protein_coding|CODING|NM_005459.3|2|1),,,,,0.6493,0.6268,0.7237,0.70,0.71,0.70,,0.000003(N),1.000(P),"-1.0,-1.0,-1.0(T,T,T)",0.0000(T),0.047,-0.577954,5.17,4.0,-0.332000,0.302000,4.443000,0.624000,0.998000,1.000000,8.2139
missense_variant,MORC1,MISSENSE,NM_014429.3:p.Glu953Lys/c.2857G>A,Gaa/Aaa,MODERATE,,0.00798722,0.001,rs78212601,0.13(T),"0.516,0.516(P,P)",0.975(L),-1.1469(T),,chr3,108677910,108677910,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu953Lys/c.2857G>A|984|MORC1|protein_coding|CODING|NM_014429.3|28|1),,,,,0.0031,0.0101,0.0288,0.02,0.00,0.02,,0.005834(N),0.596(N),"2.92,2.92(T,T)",0.0114(T),0.284,4.346692,5.2,5.2,0.650000,2.716000,1.944000,0.978000,1.000000,1.000000,14.1073
missense_variant,MORC1,MISSENSE,NM_014429.3:p.His836Tyr/c.2506C>T,Cat/Tat,MODERATE,COSM4002370(1),0.337061,0.1071,rs2593943,1(T),"0.0,0.0(B,B)",-0.895(N),-0.9264(T),,chr3,108690221,108690221,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His836Tyr/c.2506C>T|984|MORC1|protein_coding|CODING|NM_014429.3|25|1),,,,,0.3845,0.2824,0.4314,0.43,0.45,0.42,,0.684562(N),1.000(P),"3.54,3.54(T,T)",0.0000(T),0.033,-0.879434,4.69,2.2,-0.260000,0.055000,1.068000,0.912000,0.973000,0.744000,4.1247
missense_variant,MORC1,MISSENSE,NM_014429.3:p.Met478Val/c.1432A>G,Atg/Gtg,MODERATE,,0.147963,0.0823,rs3762697,0.28(T),"0.006,0.065(B,B)",2.045(M),-0.9746(T),,chr3,108754214,108754214,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met478Val/c.1432A>G|984|MORC1|protein_coding|CODING|NM_014429.3|15|1),,,,,0.1339,0.0922,0.163,0.17,0.22,0.14,,0.000528(D),0.635(P),"3.37,3.39(T,T)",0.0000(T),0.129,1.151217,4.76,3.58,0.402000,0.930000,-0.070000,0.814000,1.000000,0.984000,8.6446
missense_variant,MORC1,MISSENSE,NM_014429.3:p.Phe470Ile/c.1408T>A,Ttt/Att,MODERATE,,0.888179,1,rs4855576,0.55(T),"0.0,0.0(B,B)",-1.245(N),-1.0288(T),,chr3,108754238,108754238,A,T,hom,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe470Ile/c.1408T>A|984|MORC1|protein_coding|CODING|NM_014429.3|15|1),,,,,0.9755,0.9409,0.9881,0.88,0.70,0.98,,0.772217(N),1.000(P),"3.54,3.55(T,T)",0.0000(T),0.025,-1.625594,4.76,-8.08,-0.496000,-2.032000,-2.147000,0.067000,0.000000,0.000000,3.6728
synonymous_variant,MORC1,SILENT,NM_014429.3:p.Asp462Asp/c.1386T>C,gaT/gaC,LOW,COSM4002371(1),0.360224,0.1101,rs3762696,,,,,,chr3,108754260,108754260,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp462Asp/c.1386T>C|984|MORC1|protein_coding|CODING|NM_014429.3|15|1),,,,,0.3834,0.2939,0.4324,0.46,0.53,0.42,,,,,,,,,,,,,,,,
synonymous_variant,DPPA4,SILENT,NM_018189.3:p.Pro222Pro/c.666A>G,ccA/ccG,LOW,COSM3759600(1),0.0676917,0.003,rs13059848,,,,,,chr3,109049384,109049384,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro222Pro/c.666A>G|304|DPPA4|protein_coding|CODING|NM_018189.3|5|1),H1ESC:H3K36me3,,,,0.1176,0.0836,0.1481,0.14,0.04,0.18,,,,,,,,,,,,,,,,
synonymous_variant,CD96,SILENT,NM_198196.2:p.Pro470Pro/c.1410G>C,ccG/ccC,LOW,,0.996605,1,rs1533270,,,,,,chr3,111356083,111356083,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro454Pro/c.1362G>C|569|CD96|protein_coding|CODING|NM_005816.4|11|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro470Pro/c.1410G>C|585|CD96|protein_coding|CODING|NM_198196.2|12|1)",CD4:H3K36me3,,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,TMPRSS7,MISSENSE,NM_001042575.2:p.Ser690Cys/c.2068A>T,Agt/Tgt,MODERATE,,0.909944,0.9861,rs340151,1(T),"0.0,0.0(B,B)",-3.615(N),-0.9392(T),,chr3,111799845,111799845,A,T,hom,"missense_variant(MODERATE|MISSENSE|Agt/Tgt|p.Ser690Cys/c.2068A>T|717|TMPRSS7|protein_coding|CODING|NM_001042575.2|16|1),non_coding_exon_variant(MODIFIER|||n.2351A>T||TMPRSS7||CODING|NR_026734.1|17|1)",,,,,0.9734,0.9308,0.9523,0.90,0.80,0.96,,0.000000(N),0.999(P),"0.75,0.75(T,T)",0.0000(T),0.245,0.778394,5.75,5.75,-0.265000,1.016000,5.584000,0.989000,1.000000,1.000000,11.5293
missense_variant,C3orf52,MISSENSE,NM_024616.2:p.Gly144Ser/c.430G>A,Ggt/Agt,MODERATE,,0.976837,1,rs340167,0.72(T),0.0(B),-1.355(N),-1.0238(T),,chr3,111828423,111828423,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly144Ser/c.430G>A|217|C3orf52|protein_coding|CODING|NM_024616.2|4|1),intron_variant(MODIFIER|||c.396+6611G>A|250|C3orf52|protein_coding|CODING|NM_001171747.1|3|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.9957,1,0.98,0.92,1.00,,0.015526(N),0.000(P),3.29(T),0.0000(T),0.045,-0.249608,4.99,2.53,-0.254000,0.014000,1.608000,0.680000,0.756000,0.993000,5.8189
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Gly826Ser/c.2476G>A,Ggc/Agc,MODERATE,COSM445305(1),0.335863,0.3393,rs28516377,0.53(T),"0.006,0.053(B,B)",0.345(N),-1.0870(T),,chr3,111918215,111918215,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly826Ser/c.2476G>A|1177|SLC9C1|protein_coding|CODING|NM_183061.1|20|1),,,,,0.3384,0.4049,0.2376,0.30,0.36,0.27,,0.895123(N),1.000(P),"-0.98,-0.99(T,T)",0.0000(T),0.04,-1.394455,5.55,-3.0,-3.067000,-0.760000,0.009000,0.000000,0.000000,0.006000,8.7266
synonymous_variant,SLC9C1,SILENT,NM_183061.1:p.Phe825Phe/c.2475T>C,ttT/ttC,LOW,,0.843251,0.9891,rs13098660,,,,,,chr3,111918216,111918216,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe825Phe/c.2475T>C|1177|SLC9C1|protein_coding|CODING|NM_183061.1|20|1),,,,,0.9346,0.8516,0.7326,0.75,0.74,0.75,,,,,,,,,,,,,,,,
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Ser768Ile/c.2303G>T,aGt/aTt,MODERATE,,0.335463,0.3393,rs9288938,0.25(T),"0.747,0.387(P,B)",1.935(M),-1.0549(T),,chr3,111921116,111921116,C,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser768Ile/c.2303G>T|1177|SLC9C1|protein_coding|CODING|NM_183061.1|18|1),,,,,0.3364,0.4049,0.2376,0.30,0.36,0.27,,0.005256(N),0.995(P),"-1.17,-1.17(T,T)",0.0000(T),0.106,2.835271,5.78,1.96,0.609000,0.072000,0.167000,0.760000,0.998000,0.996000,6.0804
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Gln732Lys/c.2194C>A,Caa/Aaa,MODERATE,,0.830072,0.9891,rs6781844,0.95(T),"0.064,0.095(B,B)",0.77(N),-0.9160(T),,chr3,111921225,111921225,G,T,hom,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln732Lys/c.2194C>A|1177|SLC9C1|protein_coding|CODING|NM_183061.1|18|1),,,,,0.9346,0.8473,0.7316,0.74,0.71,0.75,,0.118979(N),0.994(P),"-0.96,-0.95(T,T)",0.0000(T),0.068,1.366115,5.96,5.09,-0.235000,1.505000,1.611000,0.668000,0.967000,0.169000,13.191
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Thr705Ile/c.2114C>T,aCt/aTt,MODERATE,,0.830272,0.9891,rs386429251,1(T),"0.002,0.001(B,B)",-0.425(N),-0.9268(T),,chr3,111923123,111923123,G,A,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr705Ile/c.2114C>T|1177|SLC9C1|protein_coding|CODING|NM_183061.1|17|1),,,,,0.9346,0.8473,0.7326,0.74,0.71,0.75,,0.918398(N),1.000(P),"-1.24,-1.24(T,T)",0.0000(T),0.014,0.346399,5.72,-3.05,-0.379000,-0.102000,-1.172000,0.001000,0.000000,0.000000,1.1621
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Thr424Ala/c.1270A>G,Act/Gct,MODERATE,,0.32488,0.3304,rs6768523,0.28(T),"0.281,0.192(B,B)",1.245(L),-1.0683(T),,chr3,111962851,111962851,T,C,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr424Ala/c.1270A>G|1177|SLC9C1|protein_coding|CODING|NM_183061.1|11|1),NHEK:H3K27me3,,,,0.3344,0.3963,0.2376,0.29,0.33,0.27,,0.944446(N),0.947(P),"-1.04,-1.04(T,T)",0.0000(T),0.046,-0.285462,5.11,3.96,0.352000,0.896000,0.071000,0.290000,0.936000,0.185000,7.6407
synonymous_variant,SLC9C1,SILENT,NM_183061.1:p.Lys373Lys/c.1119G>A,aaG/aaA,LOW,,0.642971,0.7738,rs9860819,,,,,,chr3,111981849,111981849,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys373Lys/c.1119G>A|1177|SLC9C1|protein_coding|CODING|NM_183061.1|10|1),,,,,0.7209,0.7118,0.5964,0.58,0.50,0.62,,,,,,,,,,,,,,,,
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Ile364Val/c.1090A>G,Ata/Gta,MODERATE,,0.642971,0.7738,rs9809384,0.25(T),"0.0,0.0(B,B)",0(N),-1.0656(T),,chr3,111981878,111981878,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile364Val/c.1090A>G|1177|SLC9C1|protein_coding|CODING|NM_183061.1|10|1),,,,,0.7209,0.7118,0.5964,0.58,0.50,0.62,,0.004884(N),1.000(P),"2.43,2.52(T,T)",0.0000(T),0.013,0.949112,5.78,4.91,-1.230000,0.806000,1.712000,0.371000,0.987000,1.000000,9.6347
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Ile348Met/c.1044A>G,atA/atG,MODERATE,,0.642971,0.7738,rs9809404,0.4(T),"0.001,0.001(B,B)",-1.04(N),-1.0610(T),,chr3,111981924,111981924,T,C,hom,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile348Met/c.1044A>G|1177|SLC9C1|protein_coding|CODING|NM_183061.1|10|1),,,,,0.7209,0.7118,0.5964,0.58,0.50,0.62,,0.050087(N),1.000(P),"2.34,2.33(T,T)",0.0000(T),0.065,-0.627820,5.68,2.95,-0.246000,0.086000,0.609000,0.236000,0.706000,0.985000,7.9213
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Ile286Val/c.856A>G,Att/Gtt,MODERATE,COSM4002383(1),0.329073,0.3393,rs9872691,0.71(T),"0.002,0.002(B,B)",-0.9(N),-0.9702(T),,chr3,111985107,111985107,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile286Val/c.856A>G|1177|SLC9C1|protein_coding|CODING|NM_183061.1|8|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3384,0.4035,0.2376,0.29,0.34,0.27,,0.257133(N),1.000(P),"3.95,3.95(T,T)",0.0000(T),0.01,-1.855283,5.04,3.23,-0.186000,0.647000,0.291000,0.235000,0.997000,0.992000,7.8574
missense_variant,SLC9C1,MISSENSE,NM_183061.1:p.Ile158Val/c.472A>G,Ata/Gta,MODERATE,COSM4002385(1),0.310903,0.2976,rs9828502,0.05(D),"0.005,0.011(B,B)",1.67(L),-0.9345(T),,chr3,111996554,111996554,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile158Val/c.472A>G|1177|SLC9C1|protein_coding|CODING|NM_183061.1|5|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.3384,0.4006,0.2346,0.29,0.32,0.27,,0.002361(N),1.000(P),"2.59,2.59,3.95(T,T,T)",0.0000(T),0.09,-1.185856,5.45,-1.34,-2.485000,-0.872000,0.134000,0.037000,0.281000,0.992000,5.697
missense_variant,CD200,MISSENSE,NM_001004196.2:p.Ser36Cys/c.107C>G,tCt/tGt,MODERATE,,0.660343,0.7063,rs1131199,1(T),"0.0,0.0(B,B)",-1.1(N),-0.9727(T),,chr3,112059768,112059768,C,G,het,"missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser36Cys/c.107C>G|294|CD200|protein_coding|CODING|NM_001004196.2|3|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser11Cys/c.32C>G|269|CD200|protein_coding|CODING|NM_005944.5|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,NHEK:H3K27me3",,,,0.6902,0.5519,0.5089,0.61,0.75,0.54,,0.041031(N),0.001(P),"1.28,-0.41(T,T)",0.0000(T),0.07,-1.023829,4.9,-0.608,-0.120000,-0.219000,0.242000,0.972000,0.391000,0.494000,4.7123
missense_variant,CD200,MISSENSE,NM_001004196.2:p.Pro71Thr/c.211C>A,Cct/Act,MODERATE,,0.202476,0.1359,rs2272022,0.73(T),"0.147,0.023(B,B)",0.41(N),-0.9430(T),,chr3,112063850,112063850,C,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro71Thr/c.211C>A|294|CD200|protein_coding|CODING|NM_001004196.2|4|1),missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro46Thr/c.136C>A|269|CD200|protein_coding|CODING|NM_005944.5|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.1421,0.2709,0.3907,0.29,0.14,0.37,,0.005710(N),0.000(P),"1.83,1.83(T,T)",0.0000(T),0.088,0.067615,6.02,4.19,0.655000,0.831000,0.953000,0.260000,0.994000,0.599000,7.3101
missense_variant,BTLA,MISSENSE,NM_181780.3:p.Pro267Leu/c.800C>T,cCg/cTg,MODERATE,,0.644569,0.7212,rs9288952,0.56(T),"0.0,0.0(B,B)",-0.345(N),-1.0245(T),,chr3,112185025,112185025,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro219Leu/c.656C>T|241|BTLA|protein_coding|CODING|NM_001085357.1|4|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro267Leu/c.800C>T|289|BTLA|protein_coding|CODING|NM_181780.3|5|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.7965,0.745,0.9563,0.73,0.30,0.96,,0.205342(N),1.000(P),"2.05,1.63(T,T)",0.0000(T),0.012,-2.602620,4.93,-0.709,-1.130000,-0.251000,0.120000,0.002000,0.000000,0.000000,5.0751
missense_variant,BTLA,MISSENSE,NM_181780.3:p.Arg157Ser/c.469C>A,Cgt/Agt,MODERATE,,0.988219,0.994,rs2931761,0.44(T),0.0(B),-1.79(N),-1.0016(T),,chr3,112190137,112190137,G,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg157Ser/c.469C>A|289|BTLA|protein_coding|CODING|NM_181780.3|3|1),intron_variant(MODIFIER|||c.404-1486C>A|241|BTLA|protein_coding|CODING|NM_001085357.1|2|1)","HSMM:H3K27ac,GM12878:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,HSMM:H3K4me1,NHEK:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.97,1.00,,0.972749(N),1.000(P),2.04(T),0.0000(T),0.133,-1.549309,4.0,-4.86,-0.256000,-1.463000,-1.426000,0.234000,0.006000,0.000000,1.5089
synonymous_variant,CD200R1L,SILENT,NM_001008784.2:p.Ile57Ile/c.171C>T,atC/atT,LOW,COSM3759607(1),0.292931,0.376,rs1997281,,,,,,chr3,112546473,112546473,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile57Ile/c.171C>T|271|CD200R1L|protein_coding|CODING|NM_001008784.2|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile36Ile/c.108C>T|250|CD200R1L|protein_coding|CODING|NM_001199215.1|4|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.3098,0.3703,0.4026,0.31,0.14,0.40,,,,,,,,,,,,,,,,
missense_variant,C3orf17,MISSENSE,NM_015412.3:p.Phe357Ile/c.1069T>A,Ttt/Att,MODERATE,COSM4157131(1),0.496206,0.3512,rs2306857,0.38(T),"0.168,0.261,0.002,0.003(B,B,B,B)",1.52(L),-1.0245(T),,chr3,112727184,112727184,A,T,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe357Ile/c.1069T>A|567|C3orf17|protein_coding|CODING|NM_015412.3|8|1),non_coding_exon_variant(MODIFIER|||n.979T>A||C3orf17||CODING|NR_027794.1|7|1),non_coding_exon_variant(MODIFIER|||n.975T>A||C3orf17||CODING|NR_027796.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5971,0.7363,0.7584,0.61,0.30,0.77,,0.008746(N),0.873(P),"1.49,1.49,1.49(T,T,T)",0.0000(T),0.081,0.763993,5.55,0.155,0.477000,0.116000,0.291000,0.316000,0.092000,0.090000,4.3654
synonymous_variant,BOC,SILENT,NM_033254.2:p.Ile241Ile/c.723C>T,atC/atT,LOW,,0.276757,0.3978,rs3814398,,,,,,chr3,112991312,112991312,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile241Ile/c.723C>T|1114|BOC|protein_coding|CODING|NM_033254.2|7|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2689,0.3732,0.1879,0.17,0.20,0.15,,,,,,,,,,,,,,,,
synonymous_variant,BOC,SILENT,NM_033254.2:p.Pro335Pro/c.1005C>T,ccC/ccT,LOW,COSM3759614(1),0.298722,0.4107,rs11710894,,,,,,chr3,112991959,112991959,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro335Pro/c.1005C>T|1114|BOC|protein_coding|CODING|NM_033254.2|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.319,0.3948,0.1998,0.19,0.22,0.17,,,,,,,,,,,,,,,,
synonymous_variant,BOC,SILENT,NM_033254.2:p.Leu435Leu/c.1305C>T,ctC/ctT,LOW,,0.00698882,0,rs13093741,,,,,,chr3,112993292,112993292,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu435Leu/c.1305C>T|1114|BOC|protein_coding|CODING|NM_033254.2|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.001,0.0043,0.0268,0.02,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,BOC,SILENT,NM_033254.2:p.Pro460Pro/c.1380G>A,ccG/ccA,LOW,COSM3759615(1),0.129992,0.1607,rs13094203,,,,,,chr3,112993367,112993367,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro460Pro/c.1380G>A|1114|BOC|protein_coding|CODING|NM_033254.2|9|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1176,0.085,0.1571,0.16,0.14,0.17,,,,,,,,,,,,,,,,
synonymous_variant,BOC,SILENT,NM_033254.2:p.Lys579Lys/c.1737A>G,aaA/aaG,LOW,,0.620407,0.7183,rs386612939,,,,,,chr3,112997554,112997554,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys579Lys/c.1737A>G|1114|BOC|protein_coding|CODING|NM_033254.2|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5245,0.5418,0.4781,0.55,0.74,0.45,,,,,,,,,,,,,,,,
synonymous_variant,BOC,SILENT,NM_033254.2:p.Pro661Pro/c.1983A>G,ccA/ccG,LOW,COSM3759616(3),0.558706,0.6101,rs2649878,,,,,,chr3,112998265,112998265,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro661Pro/c.1983A>G|1114|BOC|protein_coding|CODING|NM_033254.2|12|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4202,0.4741,0.336,0.46,0.78,0.30,,,,,,,,,,,,,,,,
synonymous_variant,BOC,SILENT,NM_033254.2:p.Ser662Ser/c.1986G>A,tcG/tcA,LOW,COSM3759617(2),0.180511,0.1597,rs2650100,,,,,,chr3,112998268,112998268,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser662Ser/c.1986G>A|1114|BOC|protein_coding|CODING|NM_033254.2|12|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1033,0.0994,0.1581,0.22,0.31,0.17,,,,,,,,,,,,,,,,
missense_variant,CFAP44,MISSENSE,NM_001164496.1:p.Ser1835Gly/c.5503A>G,Agt/Ggt,MODERATE,COSM4157133(1),0.77496,0.8234,rs2291905,,,,-1.0038(T),,chr3,113010466,113010466,T,C,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser1835Gly/c.5503A>G|1854|CFAP44|protein_coding|CODING|NM_001164496.1|35|1),IMR90:H3K27me3,,,,0.8558,0.8631,0.7972,,,,,,0.000(P),,0.0000(T),.,-0.964390,5.85,5.85,-0.215000,1.499000,2.771000,0.084000,0.196000,0.737000,11.1891
missense_variant,CFAP44,MISSENSE,NM_001164496.1:p.His1657Arg/c.4970A>G,cAt/cGt,MODERATE,,0.964257,1,rs386594627,0.79(T),0.0(B),-0.55(N),-0.9719(T),,chr3,113022870,113022870,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1657Arg/c.4970A>G|1854|CFAP44|protein_coding|CODING|NM_001164496.1|32|1),"CD4:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9899,0.9911,0.96,0.90,0.98,,0.014716(N),1.000(P),"1.01,1.01(T,T)",0.0000(T),0.11,-1.334220,5.67,-0.836,-2.208000,-0.414000,-0.097000,0.003000,0.000000,0.000000,1.0824
synonymous_variant,CFAP44,SILENT,NM_001164496.1:p.Asp1381Asp/c.4143T>C,gaT/gaC,LOW,,0.0848642,0.119,rs13064411,,,,-1.0720(T),,chr3,113046640,113046640,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1381Asp/c.4143T>C|1854|CFAP44|protein_coding|CODING|NM_001164496.1|27|1),,,,,0.1033,0.0735,0.1392,0.11,0.03,0.15,,,0.000(P),,0.0011(T),.,1.155360,5.93,3.48,0.533000,0.455000,2.216000,0.991000,1.000000,1.000000,8.867
synonymous_variant,CFAP44,SILENT,NM_001164496.1:p.Pro264Pro/c.792C>A,ccC/ccA,LOW,,0.0495208,0.001,rs13059888,,,,,,chr3,113128051,113128051,G,T,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro264Pro/c.792C>A|1854|CFAP44|protein_coding|CODING|NM_001164496.1|7|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro264Pro/c.792C>A|982|CFAP44|protein_coding|CODING|NM_018338.3|7|1),intron_variant(MODIFIER|||n.59+5148G>T||CFAP44-AS1||NON_CODING|NR_046728.1|1|1)",,,,,0.0317,0.0807,0.1412,0.09,0.02,0.13,,,,,,,,,,,,,,,,
synonymous_variant,SPICE1,SILENT,NM_144718.3:p.Pro506Pro/c.1518C>T,ccC/ccT,LOW,COSM3759620(3),0.327875,0.2996,rs7637618,,,,,,chr3,113176122,113176122,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro506Pro/c.1518C>T|855|SPICE1|protein_coding|CODING|NM_144718.3|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2127,0.1758,0.2455,0.35,0.53,0.25,,,,,,,,,,,,,,,,
synonymous_variant,SPICE1,SILENT,NM_144718.3:p.Pro46Pro/c.138C>T,ccC/ccT,LOW,COSM3759623(1),0.244209,0.2212,rs11537650,,,,,,chr3,113222036,113222036,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro46Pro/c.138C>T|855|SPICE1|protein_coding|CODING|NM_144718.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.1881,0.1427,0.2286,0.27,0.35,0.23,,,,,,,,,,,,,,,,
missense_variant,SIDT1,MISSENSE,NM_017699.2:p.Thr363Ile/c.1088C>T,aCa/aTa,MODERATE,,0.0453275,0.0407,rs33990195,0.25(T),"0.136,0.171(B,B)",1.04(L),-1.1233(T),,chr3,113320477,113320477,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr363Ile/c.1088C>T|827|SIDT1|protein_coding|CODING|NM_017699.2|11|1),"HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.0358,0.0605,0.0994,0.07,0.01,0.10,,0.000080(D),1.000(D),"1.91,1.91(T,T)",0.0022(T),0.289,3.166585,6.07,6.07,0.655000,2.885000,5.080000,0.992000,1.000000,0.999000,20.6593
synonymous_variant,SIDT1,SILENT,NM_017699.2:p.Ala456Ala/c.1368G>A,gcG/gcA,LOW,,0.0451278,0.0407,rs3732797,,,,,,chr3,113323787,113323787,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala456Ala/c.1368G>A|827|SIDT1|protein_coding|CODING|NM_017699.2|14|1),"HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0358,0.0591,0.0994,0.07,0.01,0.10,,,,,,,,,,,,,,,,
missense_variant,KIAA2018,MISSENSE,NM_001009899.3:p.Val2200Ala/c.6599T>C,gTg/gCg,MODERATE,,0.999002,1,rs930818,1(T),0.0(B),-0.695(N),-0.9303(T),,chr3,113373930,113373930,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val2200Ala/c.6599T>C|2245|KIAA2018|protein_coding|CODING|NM_001009899.3|7|1),intron_variant(MODIFIER|||n.668-5233T>C||KIAA2018||CODING|NR_111981.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,0.998,1.00,1.00,1.00,,0.000004(N),0.000(P),"3.01,3.01(T,T)",0.0000(T),0.06,-0.923827,5.57,5.57,-0.374000,1.366000,6.080000,0.864000,1.000000,1.000000,14.7251
synonymous_variant,KIAA2018,SILENT,NM_001009899.3:p.Asn1056Asn/c.3168T>C,aaT/aaC,LOW,COSM3759627(1),0.304313,0.2183,rs9813630,,,,,,chr3,113377361,113377361,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1056Asn/c.3168T>C|2245|KIAA2018|protein_coding|CODING|NM_001009899.3|7|1),intron_variant(MODIFIER|||n.667+5799T>C||KIAA2018||CODING|NR_111981.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.181,0.2709,0.3569,0.36,0.40,0.34,,,,,,,,,,,,,,,,
missense_variant,KIAA2018,MISSENSE,NM_001009899.3:p.Pro222Ala/c.664C>G,Cct/Gct,MODERATE,COSM3759629(1),0.206669,0.2004,rs9866806,0.16(T),0.023(B),0(N),-0.9006(T),,chr3,113379865,113379865,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro222Ala/c.664C>G|2245|KIAA2018|protein_coding|CODING|NM_001009899.3|7|1),intron_variant(MODIFIER|||n.667+3295C>G||KIAA2018||CODING|NR_111981.1|6|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1575,0.1758,0.3519,0.27,0.15,0.33,,0.117389(N),0.000(P),"2.6,2.6(T,T)",0.0000(T),0.085,0.648761,5.43,3.04,0.655000,1.179000,0.716000,0.997000,1.000000,1.000000,1.794
missense_variant,ZDHHC23,MISSENSE,NM_173570.3:p.Lys247Arg/c.740A>G,aAg/aGg,MODERATE,COSM3724231(1),0.597444,0.6696,rs11921691,0.54(T),0.0(B),-0.895(N),-0.9944(T),,chr3,113673125,113673125,A,G,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys247Arg/c.740A>G|409|ZDHHC23|protein_coding|CODING|NM_173570.3|3|1),"H1ESC:H3K36me3,HMEC:H3K4me2,IMR90:H3K27me3,HUVEC:H3K4me1,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.5358,0.5346,0.5646,0.56,0.61,0.54,,0.268754(N),1.000(P),"1.81,1.81(T,T)",0.0000(T),0.012,-1.308369,5.11,2.19,-0.215000,0.309000,1.792000,0.052000,0.000000,0.020000,10.1295
missense_variant,KIAA1407,MISSENSE,NM_020817.1:p.Glu696Asp/c.2088A>T,gaA/gaT,MODERATE,,0.109824,0.1567,rs6784095,0.04(D),0.148(B),2.3(M),-1.0971(T),,chr3,113720517,113720517,T,A,hom,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu696Asp/c.2088A>T|936|KIAA1407|protein_coding|CODING|NM_020817.1|13|1),,,,,0.0787,0.1744,0.1362,0.10,0.06,0.13,,0.000502(N),0.000(P),1.36(T),0.0003(T),0.064,4.062455,5.19,-3.11,-0.248000,-0.501000,-1.312000,0.989000,0.939000,0.198000,7.3801
synonymous_variant,DRD3,SILENT,NM_000796.5:p.Gln240Gln/c.720G>A,caG/caA,LOW,,0.957867,1,rs2251177,,,,,,chr3,113858350,113858350,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln240Gln/c.720G>A|400|DRD3|protein_coding|CODING|NM_000796.5|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln240Gln/c.720G>A|400|DRD3|protein_coding|CODING|NM_001282563.2|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln240Gln/c.720G>A|400|DRD3|protein_coding|CODING|NM_001290809.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln240Gln/c.720G>A|367|DRD3|protein_coding|CODING|NM_033663.5|5|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9683,0.987,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,ZNF80,MISSENSE,NM_007136.3:p.Asp253Ala/c.758A>C,gAc/gCc,MODERATE,,0.694089,0.5456,rs3732782,1(T),0.0(B),-0.8(N),-1.0054(T),,chr3,113955164,113955164,T,G,het,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp253Ala/c.758A>C|273|ZNF80|protein_coding|CODING|NM_007136.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7117,0.6009,0.6849,0.70,0.80,0.64,,,1.000(P),2.6(T),0.0000(T),0.034,-1.340453,3.02,2.14,-0.217000,0.321000,-0.959000,0.257000,0.037000,0.000000,5.6739
stop_gained,ZNF80,NONSENSE,NM_007136.3:p.Tyr245*/c.735T>G,taT/taG,HIGH,,0.185503,0.1567,rs3732781,1(T),,,,,chr3,113955187,113955187,A,C,het,stop_gained(HIGH|NONSENSE|taT/taG|p.Tyr245*/c.735T>G|273|ZNF80|protein_coding|CODING|NM_007136.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2935,0.2435,0.2803,0.21,0.06,0.28,,,0.006(P),,,.,4.753196,3.14,-2.2,-2.109000,-0.899000,-0.759000,0.002000,0.000000,0.000000,9.594
synonymous_variant,ZNF80,SILENT,NM_007136.3:p.Cys219Cys/c.657C>T,tgC/tgT,LOW,,0.693091,0.5427,rs6438190,,,,,,chr3,113955265,113955265,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys219Cys/c.657C>T|273|ZNF80|protein_coding|CODING|NM_007136.3|1|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7096,0.6009,0.6849,0.70,0.80,0.64,,,,,,,,,,,,,,,,
missense_variant,ZNF80,MISSENSE,NM_007136.3:p.Arg201His/c.602G>A,cGc/cAc,MODERATE,,0.692692,0.5427,rs6438191,0.16(T),0.0(B),0.91(L),-1.0874(T),,chr3,113955320,113955320,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg201His/c.602G>A|273|ZNF80|protein_coding|CODING|NM_007136.3|1|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7096,0.6009,0.6849,0.70,0.80,0.64,,,1.000(P),3.1(T),0.0000(T),0.032,0.382851,3.04,0.351,-0.361000,-0.212000,-2.141000,0.108000,0.001000,0.000000,0.2443
synonymous_variant,LSAMP,SILENT,NM_002338.3:p.Ser205Ser/c.615G>A,tcG/tcA,LOW,COSM149448(1),0.132788,0.1756,rs3821560,,,,,,chr3,115571364,115571364,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser205Ser/c.615G>A|338|LSAMP|protein_coding|CODING|NM_002338.3|4|1),IMR90:H3K36me3,,,,0.1544,0.304,0.0855,0.06,0.04,0.08,,,,,,,,,,,,,,,,
missense_variant,IGSF11,MISSENSE,NM_001015887.1:p.Pro39Thr/c.115C>A,Cca/Aca,MODERATE,,0.863219,0.8046,rs2903250,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.37(N),-0.9443(T),,chr3,118649060,118649060,G,T,hom,"missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro39Thr/c.115C>A|431|IGSF11|protein_coding|CODING|NM_001015887.1|2|1),missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro38Thr/c.112C>A|430|IGSF11|protein_coding|CODING|NM_152538.2|4|1)",,,,,0.863,0.8689,0.7604,0.84,0.95,0.78,,0.000000(N),1.000(P),"0.05,0.05,0.05,0.05,0.05,0.05(T,T,T,T,T,T)",0.0000(T),0.027,-0.161042,5.27,5.27,-0.256000,1.021000,2.778000,0.979000,0.993000,1.000000,7.2941
missense_variant,C3orf30,MISSENSE,NM_152539.2:p.Asp99Gly/c.296A>G,gAc/gGc,MODERATE,,0.14377,0.2371,rs11550908,0.38(T),"0.535,0.373(P,B)",0.695(N),-0.9946(T),,chr3,118865332,118865332,A,G,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp99Gly/c.296A>G|536|C3orf30|protein_coding|CODING|NM_152539.2|1|1),upstream_gene_variant(MODIFIER||434||430|IGSF11|protein_coding|CODING|NM_152538.2||1)",,,,,0.1063,0.0663,0.1531,0.13,0.12,0.14,,,1.000(P),1.83(T),0.0000(T),0.254,2.316641,2.39,-0.0946,0.460000,-0.038000,0.028000,0.160000,0.000000,0.000000,4.06
synonymous_variant,C3orf30,SILENT,NM_152539.2:p.Ser191Ser/c.573C>T,tcC/tcT,LOW,COSM1566327(1),0.143171,0.2361,rs10934483,,,,,,chr3,118865609,118865609,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser191Ser/c.573C>T|536|C3orf30|protein_coding|CODING|NM_152539.2|1|1),upstream_gene_variant(MODIFIER||711||430|IGSF11|protein_coding|CODING|NM_152538.2||1)",,,,,0.1053,0.0663,0.1531,0.13,0.12,0.14,,,1.000(P),,,.,0.039534,4.09,-8.17,-1.402000,-1.809000,-1.657000,0.000000,0.000000,0.000000,9.1284
missense_variant,C3orf30,MISSENSE,NM_152539.2:p.Gly312Ser/c.934G>A,Ggc/Agc,MODERATE,COSM3759632(1),0.21246,0.0794,rs386590830,0.66(T),"0.005,0.314(B,B)",1.445(L),-1.0197(T),,chr3,118865970,118865970,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly312Ser/c.934G>A|536|C3orf30|protein_coding|CODING|NM_152539.2|1|1),upstream_gene_variant(MODIFIER||1072||430|IGSF11|protein_coding|CODING|NM_152538.2||1)",HSMM:DNase1,,,,0.3497,0.1873,0.17,0.19,0.25,0.16,,0.028592(N),1.000(P),2.83(T),0.0000(T),0.251,1.069912,2.72,0.781,0.467000,0.201000,1.464000,0.047000,0.001000,0.010000,2.9986
missense_variant,C3orf30,MISSENSE,NM_152539.2:p.Asp473Glu/c.1419C>G,gaC/gaG,MODERATE,COSM3759635(1),0.469649,0.5119,rs9289122,1(T),"0.0,0.0(B,B)",-0.895(N),-0.9248(T),,chr3,118867047,118867047,C,G,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp473Glu/c.1419C>G|536|C3orf30|protein_coding|CODING|NM_152539.2|2|1),,,,,0.4284,0.4856,0.4404,0.47,0.48,0.47,,0.429264(N),1.000(P),2.77(T),0.0000(T),0.004,-1.283573,4.74,-2.61,-0.120000,-0.718000,-1.870000,0.001000,0.000000,0.000000,0.727
missense_variant,UPK1B,MISSENSE,NM_006952.3:p.Gln113Arg/c.338A>G,cAa/cGa,MODERATE,,0.917133,0.9286,rs9840317,1(T),"0.0,0.0(B,B)",-0.65(N),-0.9440(T),,chr3,118909159,118909159,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln113Arg/c.338A>G|260|UPK1B|protein_coding|CODING|NM_006952.3|4|1),HUVEC:H3K27me3,,,,0.8732,0.9236,0.9732,0.95,0.92,0.97,,0.002221(N),1.000(P),"-1.05,-1.05,-1.05,-1.05,-1.05(T,T,T,T,T)",0.0000(T),0.173,-0.399742,4.57,4.57,-0.213000,1.159000,2.632000,0.961000,0.997000,0.998000,6.3448
synonymous_variant,ARHGAP31,SILENT,NM_020754.3:p.Val355Val/c.1065A>G,gtA/gtG,LOW,,1,1,rs4688001,,,,,,chr3,119118104,119118104,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val355Val/c.1065A>G|1444|ARHGAP31|protein_coding|CODING|NM_020754.3|9|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,ARHGAP31,MISSENSE,NM_020754.3:p.Gly803Ser/c.2407G>A,Ggc/Agc,MODERATE,COSM4157154(1),0.845647,0.8482,rs3732413,1(T),0.0(B),0.255(N),-0.9770(T),,chr3,119133183,119133183,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly803Ser/c.2407G>A|1444|ARHGAP31|protein_coding|CODING|NM_020754.3|12|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.8599,0.755,0.7853,0.83,0.92,0.79,,0.994327(N),1.000(P),3.49(T),0.0000(T),0.017,1.138205,5.3,-10.1,-0.977000,-3.054000,-2.179000,0.000000,0.000000,0.000000,8.7904
synonymous_variant,POGLUT1,SILENT,NM_152305.2:p.Ser109Ser/c.327T>C,agT/agC,LOW,COSM4002408(1),0.11901,0.123,rs3732420,,,,-1.0601(T),,chr3,119196166,119196166,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser109Ser/c.327T>C|392|POGLUT1|protein_coding|CODING|NM_152305.2|4|1),non_coding_exon_variant(MODIFIER|||n.411T>C||POGLUT1||CODING|NR_024265.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.2305,0.169,0.14,0.04,0.19,,,0.000(P),,0.0002(T),.,1.412246,5.26,1.57,0.533000,0.479000,1.215000,0.986000,1.000000,1.000000,6.8594
synonymous_variant,ADPRH,SILENT,NM_001125.3:p.Pro112Pro/c.336G>A,ccG/ccA,LOW,COSM3720732(1),0.198882,0.2292,rs20569,,,,,,chr3,119305169,119305169,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro112Pro/c.336G>A|357|ADPRH|protein_coding|CODING|NM_001125.3|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro112Pro/c.336G>A|357|ADPRH|protein_coding|CODING|NM_001291949.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro5Pro/c.15G>A|250|ADPRH|protein_coding|CODING|NM_001291950.1|2|1)","GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1166,0.1239,0.1382,0.19,0.29,0.14,,,,,,,,,,,,,,,,
synonymous_variant,PLA1A,SILENT,NM_015900.3:p.Phe104Phe/c.312T>C,ttT/ttC,LOW,,0.340655,0.4504,rs1723969,,,,,,chr3,119327653,119327653,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe104Phe/c.312T>C|440|PLA1A|protein_coding|CODING|NM_001206960.1|3|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe88Phe/c.264T>C|440|PLA1A|protein_coding|CODING|NM_001293225.1|3|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe104Phe/c.312T>C|456|PLA1A|protein_coding|CODING|NM_015900.3|3|1),5_prime_UTR_variant(MODIFIER||728|c.-208T>C|283|PLA1A|protein_coding|CODING|NM_001206961.1|2|1),non_coding_exon_variant(MODIFIER|||n.378T>C||PLA1A||CODING|NR_120610.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2853,0.1859,0.1839,0.29,0.46,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PLA1A,SILENT,NM_015900.3:p.Pro191Pro/c.573C>T,ccC/ccT,LOW,,0.285942,0.4484,rs2272270,,,,,,chr3,119331874,119331874,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro175Pro/c.525C>T|440|PLA1A|protein_coding|CODING|NM_001206960.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro18Pro/c.54C>T|283|PLA1A|protein_coding|CODING|NM_001206961.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro175Pro/c.525C>T|440|PLA1A|protein_coding|CODING|NM_001293225.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro191Pro/c.573C>T|456|PLA1A|protein_coding|CODING|NM_015900.3|5|1),non_coding_exon_variant(MODIFIER|||n.639C>T||PLA1A||CODING|NR_120610.1|5|1)","GM12878:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.2669,0.1398,0.16,0.22,0.32,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PLA1A,SILENT,NM_015900.3:p.Thr197Thr/c.591C>G,acC/acG,LOW,,0.307907,0.4484,rs2272269,,,,,,chr3,119331892,119331892,C,G,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr181Thr/c.543C>G|440|PLA1A|protein_coding|CODING|NM_001206960.1|5|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr24Thr/c.72C>G|283|PLA1A|protein_coding|CODING|NM_001206961.1|4|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr181Thr/c.543C>G|440|PLA1A|protein_coding|CODING|NM_001293225.1|5|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr197Thr/c.591C>G|456|PLA1A|protein_coding|CODING|NM_015900.3|5|1),non_coding_exon_variant(MODIFIER|||n.657C>G||PLA1A||CODING|NR_120610.1|5|1)","GM12878:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.2658,0.1484,0.161,0.25,0.42,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PLA1A,SILENT,NM_015900.3:p.Pro335Pro/c.1005G>A,ccG/ccA,LOW,,0.0511182,0.002,rs61733986,,,,,,chr3,119338492,119338492,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro319Pro/c.957G>A|440|PLA1A|protein_coding|CODING|NM_001206960.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro162Pro/c.486G>A|283|PLA1A|protein_coding|CODING|NM_001206961.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro319Pro/c.957G>A|440|PLA1A|protein_coding|CODING|NM_001293225.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro335Pro/c.1005G>A|456|PLA1A|protein_coding|CODING|NM_015900.3|8|1),non_coding_exon_variant(MODIFIER|||n.1071G>A||PLA1A||CODING|NR_120610.1|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0521,0.0865,0.1262,0.10,0.04,0.14,,,,,,,,,,,,,,,,
synonymous_variant,POPDC2,SILENT,NM_022135.2:p.Ser242Ser/c.726A>G,tcA/tcG,LOW,,0.94349,1,rs2688643,,,,,,chr3,119367390,119367390,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser242Ser/c.726A>G|364|POPDC2|protein_coding|CODING|NM_022135.2|3|1),"GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,1,0.9784,1,0.95,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MAATS1,SILENT,NM_033364.3:p.Tyr86Tyr/c.258T>C,taT/taC,LOW,,0.585264,0.8095,rs9848716,,,,,,chr3,119426307,119426307,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr86Tyr/c.258T>C|767|MAATS1|protein_coding|CODING|NM_033364.3|3|1),IMR90:H3K27me3,,,,0.7198,0.6369,0.7286,0.57,0.26,0.72,,,,,,,,,,,,,,,,
missense_variant,MAATS1,MISSENSE,NM_033364.3:p.Ala207Pro/c.619G>C,Gca/Cca,MODERATE,,0.909944,1,rs6438544,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.485(N),-0.9393(T),,chr3,119434527,119434527,G,C,hom,missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala207Pro/c.619G>C|767|MAATS1|protein_coding|CODING|NM_033364.3|6|1),,,,,1,0.9784,1,0.90,0.71,1.00,,0.000007(N),0.999(P),"2.5,2.5(T,T)",0.0000(T),0.406,0.831632,5.32,5.32,-0.195000,1.257000,3.125000,0.869000,1.000000,1.000000,15.8231
synonymous_variant,NR1I2,SILENT,NM_022002.2:p.Asn332Asn/c.996T>C,aaT/aaC,LOW,COSM4157158(1),0.999401,1,rs4058490,,,,,,chr3,119533910,119533910,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn293Asn/c.879T>C|434|NR1I2|protein_coding|CODING|NM_003889.3|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn332Asn/c.996T>C|473|NR1I2|protein_coding|CODING|NM_022002.2|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn256Asn/c.768T>C|397|NR1I2|protein_coding|CODING|NM_033013.2|6|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.999,0.9971,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GPR156,SILENT,NM_153002.2:p.Leu592Leu/c.1776C>G,ctC/ctG,LOW,,0.902356,0.9306,rs9858566,,,,,,chr3,119886548,119886548,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu588Leu/c.1764C>G|810|GPR156|protein_coding|CODING|NM_001168271.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu592Leu/c.1776C>G|814|GPR156|protein_coding|CODING|NM_153002.2|9|1)",NHEK:H3K36me3,,,,0.8579,0.9265,0.9284,0.90,0.88,0.92,,,,,,,,,,,,,,,,
missense_variant,GPR156,MISSENSE,NM_153002.2:p.Glu516Asp/c.1548A>T,gaA/gaT,MODERATE,COSM4157159(1),0.901957,0.9306,rs902790,,"0.0,0.0(B,B)",-0.695(N),-0.9889(T),,chr3,119886776,119886776,T,A,het,"missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu512Asp/c.1536A>T|810|GPR156|protein_coding|CODING|NM_001168271.1|9|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu516Asp/c.1548A>T|814|GPR156|protein_coding|CODING|NM_153002.2|9|1)",NHEK:H3K36me3,,,,0.8558,0.9265,0.9284,0.90,0.88,0.92,,0.070565(N),1.000(P),"2.02,2.02,2.02(T,T,T)",0.0000(T),0.017,-0.073349,5.52,0.369,-2.751000,-0.314000,-0.609000,0.000000,0.000000,0.000000,0.4059
synonymous_variant,GPR156,SILENT,NM_153002.2:p.Asp162Asp/c.486C>T,gaC/gaT,LOW,,0.0061901,0,rs74395262,,,,,,chr3,119905619,119905619,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp162Asp/c.486C>T|814|GPR156|protein_coding|CODING|NM_153002.2|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp162Asp/c.486C>T|810|GPR156|protein_coding|CODING|NM_001168271.1|5|1)",,,,,0.002,0.0058,0.0229,0.02,0.01,0.02,,,,,,,,,,,,,,,,
synonymous_variant,LRRC58,SILENT,NM_001099678.1:p.Val23Val/c.69G>C,gtG/gtC,LOW,,0.209665,0.0962,rs6770482,,,,,,chr3,120068022,120068022,C,G,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val23Val/c.69G>C|371|LRRC58|protein_coding|CODING|NM_001099678.1|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.1544,0.2968,0.0755,0.10,0.19,0.06,,,,,,,,,,,,,,,,
missense_variant,HGD,MISSENSE,NM_000187.3:p.Gln80His/c.240A>T,caA/caT,MODERATE,,0.731629,0.6429,rs2255543,0.67(T),0.0(B),-0.345(N),-0.9367(T),,chr3,120389316,120389316,T,A,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln80His/c.240A>T|445|HGD|protein_coding|CODING|NM_000187.3|4|1),HepG2:H3K36me3,,,,0.6636,0.8112,0.7654,0.74,0.76,0.74,,0.000750(N),1.000(P),"-5.18,-5.18(D,D)",0.0000(T),0.039,0.957997,6.06,-2.23,-0.257000,-0.300000,-0.244000,0.950000,0.075000,0.001000,3.4407
missense_variant,POLQ,MISSENSE,NM_199420.3:p.Gln2513Arg/c.7538A>G,cAa/cGa,MODERATE,,0.745208,0.877,rs1381057,1(T),"0.0,0.001(B,B)",-0.14(N),-0.9653(T),,chr3,121154974,121154974,T,C,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln2513Arg/c.7538A>G|2590|POLQ|protein_coding|CODING|NM_199420.3|28|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8793,0.6945,0.668,0.67,0.64,0.68,,0.541194(N),1.000(P),0.85(T),0.0000(T),0.009,-0.646621,5.81,-0.307,-0.941000,-0.673000,-0.473000,0.166000,0.000000,0.000000,7.6272
missense_variant,POLQ,MISSENSE,NM_199420.3:p.Thr982Arg/c.2945C>G,aCa/aGa,MODERATE,COSM3759646(1),0.696486,0.876,rs3218649,0.54(T),"0.0,0.0(B,B)",-0.345(N),-1.0089(T),,chr3,121208833,121208833,G,C,hom,missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr982Arg/c.2945C>G|2590|POLQ|protein_coding|CODING|NM_199420.3|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8487,0.634,0.6143,0.60,0.55,0.63,,0.052835(N),1.000(P),0.82(T),0.0000(T),0.028,-1.438016,4.99,-3.86,-0.986000,-1.432000,-2.240000,0.114000,0.000000,0.000000,8.791
synonymous_variant,POLQ,SILENT,NM_199420.3:p.Gly479Gly/c.1437C>T,ggC/ggT,LOW,,0.997404,1,rs702018,,,,,,chr3,121238749,121238749,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly479Gly/c.1437C>T|2590|POLQ|protein_coding|CODING|NM_199420.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,POLQ,MISSENSE,NM_199420.3:p.Arg66Ile/c.197G>T,aGa/aTa,MODERATE,,0.988618,1,rs702017,0.29(T),0.0(B),-1.245(N),-0.9876(T),,chr3,121263720,121263720,C,A,hom,missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg66Ile/c.197G>T|2590|POLQ|protein_coding|CODING|NM_199420.3|2|1),"GM12878:H3K4me3,GM12878:H3K79me2,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9986,1,0.99,0.97,1.00,,0.571724(N),1.000(P),0.86(T),0.0000(T),0.062,1.160304,5.68,-2.11,-0.374000,-0.845000,0.439000,0.144000,0.000000,0.006000,11.088
missense_variant,HCLS1,MISSENSE,NM_005335.5:p.Val436Leu/c.1306G>C,Gta/Cta,MODERATE,COSM4157163(1),0.995407,1,rs9869984,1(T),"0.0,0.0(B,B)",-2.35(N),-0.9871(T),,chr3,121350966,121350966,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val399Leu/c.1195G>C|449|HCLS1|protein_coding|CODING|NM_001292041.1|12|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val436Leu/c.1306G>C|486|HCLS1|protein_coding|CODING|NM_005335.5|13|1),downstream_gene_variant(MODIFIER||1827||709|FBXO40|protein_coding|CODING|NM_016298.3||1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9914,1,1.00,0.99,1.00,,0.000440(N),1.000(P),"1.57,1.57(T,T)",0.0000(T),0.118,-1.518972,4.89,3.01,-0.216000,0.679000,0.180000,0.111000,0.988000,0.021000,5.478
missense_variant,HCLS1,MISSENSE,NM_005335.5:p.Glu361Lys/c.1081G>A,Gaa/Aaa,MODERATE,COSM4002413(2),0.146366,0.0913,rs2070180,0.19(T),"0.138,0.138(B,B)",1.445(L),-0.9943(T),,chr3,121351338,121351338,C,T,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu324Lys/c.970G>A|449|HCLS1|protein_coding|CODING|NM_001292041.1|11|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu361Lys/c.1081G>A|486|HCLS1|protein_coding|CODING|NM_005335.5|12|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0951,0.1398,0.2813,0.24,0.15,0.29,,0.567392(N),0.980(P),"2.03,2.03(T,T)",0.0000(T),0.318,1.090966,5.06,4.14,0.655000,2.638000,1.511000,0.042000,0.919000,0.998000,11.5842
missense_variant,HCLS1,MISSENSE,NM_005335.5:p.Thr235Ala/c.703A>G,Acc/Gcc,MODERATE,,0.651558,0.8492,rs2070179,1(T),"0.0,0.001(B,B)",-1.245(N),-0.9856(T),,chr3,121353254,121353254,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr198Ala/c.592A>G|449|HCLS1|protein_coding|CODING|NM_001292041.1|9|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr235Ala/c.703A>G|486|HCLS1|protein_coding|CODING|NM_005335.5|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5798,0.4798,0.7515,0.71,0.62,0.76,,0.000000(N),0.999(P),"2.25,2.27(T,T)",0.0000(T),0.055,0.601524,5.29,5.29,-0.197000,1.472000,2.098000,0.902000,1.000000,1.000000,10.0073
synonymous_variant,HCLS1,SILENT,NM_005335.5:p.His147His/c.441C>T,caC/caT,LOW,,0.23103,0.2768,rs2070178,,,,,,chr3,121361787,121361787,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His147His/c.441C>T|449|HCLS1|protein_coding|CODING|NM_001292041.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His147His/c.441C>T|486|HCLS1|protein_coding|CODING|NM_005335.5|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2996,0.1744,0.2197,0.22,0.21,0.23,,,,,,,,,,,,,,,,
missense_variant,GOLGB1,MISSENSE,NM_001256486.1:p.Pro1254Ser/c.3760C>T,Cca/Tca,MODERATE,COSM4002414(1),0.146965,0.0923,rs33988592,0.71(T),"0.005,0.005,0.003,0.003,0.003(B,B,B,B,B)",1.845(L),-0.9511(T),,chr3,121415610,121415610,G,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro1254Ser/c.3760C>T|3269|GOLGB1|protein_coding|CODING|NM_001256486.1|13|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro1215Ser/c.3643C>T|3225|GOLGB1|protein_coding|CODING|NM_001256487.1|13|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro1174Ser/c.3520C>T|3184|GOLGB1|protein_coding|CODING|NM_001256488.1|12|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro1249Ser/c.3745C>T|3259|GOLGB1|protein_coding|CODING|NM_004487.4|13|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0941,0.1383,0.2833,0.24,0.15,0.29,,0.330719(N),1.000(P),"2.56,2.54,1.95(T,T,T)",0.0000(T),0.183,-1.284513,6.07,1.91,0.655000,0.410000,-0.819000,0.083000,0.004000,0.000000,2.4289
synonymous_variant,GOLGB1,SILENT,NM_001256486.1:p.Gln417Gln/c.1251A>G,caA/caG,LOW,COSM4157168(1),0.653155,0.8542,rs9832267,,,,-1.0369(T),,chr3,121435621,121435621,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln417Gln/c.1251A>G|3269|GOLGB1|protein_coding|CODING|NM_001256486.1|9|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln378Gln/c.1134A>G|3225|GOLGB1|protein_coding|CODING|NM_001256487.1|9|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln337Gln/c.1011A>G|3184|GOLGB1|protein_coding|CODING|NM_001256488.1|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln412Gln/c.1236A>G|3259|GOLGB1|protein_coding|CODING|NM_004487.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5818,0.4769,0.7515,0.71,0.61,0.76,,,0.000(P),,0.0000(T),.,-1.180132,5.8,3.1,-0.748000,0.122000,-0.199000,0.007000,0.886000,0.050000,7.8276
synonymous_variant,GOLGB1,SILENT,NM_001256486.1:p.Glu416Glu/c.1248G>A,gaG/gaA,LOW,COSM4157169(1),0.653754,0.8542,rs9812411,,,,-1.0549(T),,chr3,121435624,121435624,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu416Glu/c.1248G>A|3269|GOLGB1|protein_coding|CODING|NM_001256486.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu377Glu/c.1131G>A|3225|GOLGB1|protein_coding|CODING|NM_001256487.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu336Glu/c.1008G>A|3184|GOLGB1|protein_coding|CODING|NM_001256488.1|8|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu411Glu/c.1233G>A|3259|GOLGB1|protein_coding|CODING|NM_004487.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5818,0.4769,0.7515,0.71,0.61,0.76,,,0.000(P),,0.0000(T),.,-1.233301,5.8,-6.79,-1.811000,-1.068000,-0.696000,0.005000,0.791000,0.219000,10.8732
synonymous_variant,IQCB1,SILENT,NM_001023570.2:p.Leu192Leu/c.574C>T,Cta/Tta,LOW,,0.620008,0.3244,rs4543051,,,,,,chr3,121526204,121526204,G,A,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu192Leu/c.574C>T|598|IQCB1|protein_coding|CODING|NM_001023570.2|7|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu192Leu/c.574C>T|465|IQCB1|protein_coding|CODING|NM_001023571.2|7|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.682,0.7032,0.6163,0.65,0.71,0.62,,,,,,,,,,,,,,,,
synonymous_variant,EAF2,SILENT,NM_018456.4:p.Gly54Gly/c.162T>C,ggT/ggC,LOW,COSM1130361(1),0.246206,0.6161,rs9884018,,,,,,chr3,121563355,121563355,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly54Gly/c.162T>C|260|EAF2|protein_coding|CODING|NM_018456.4|2|1),,,,,0.1994,0.1455,0.1382,0.15,0.16,0.14,,,,,,,,,,,,,,,,
synonymous_variant,SLC15A2,SILENT,NM_021082.3:p.Ala284Ala/c.852G>A,gcG/gcA,LOW,,0.452276,0.6984,rs2293616,,,,,,chr3,121641693,121641693,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala253Ala/c.759G>A|698|SLC15A2|protein_coding|CODING|NM_001145998.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala284Ala/c.852G>A|729|SLC15A2|protein_coding|CODING|NM_021082.3|9|1)",GM06990:H3K36me3,,,,0.2965,0.2939,0.4235,0.47,0.49,0.45,,,,,,,,,,,,,,,,
missense_variant,SLC15A2,MISSENSE,NM_021082.3:p.Leu350Phe/c.1048C>T,Ctt/Ttt,MODERATE,COSM1742635(1),0.451877,0.6984,rs2257212,0.19(T),"0.11,0.247(B,B)",1.46(L),-0.9543(T),,chr3,121643804,121643804,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu319Phe/c.955C>T|698|SLC15A2|protein_coding|CODING|NM_001145998.1|12|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu350Phe/c.1048C>T|729|SLC15A2|protein_coding|CODING|NM_021082.3|13|1)",GM06990:H3K36me3,,,,0.2965,0.2939,0.4235,0.46,0.49,0.45,,0.029363(N),0.000(P),"0.04,0.04(T,T)",0.0000(T),0.032,2.356636,5.95,-5.78,-0.355000,-0.873000,-0.147000,0.994000,0.765000,0.273000,18.098
synonymous_variant,SLC15A2,SILENT,NM_021082.3:p.Ala387Ala/c.1161A>G,gcA/gcG,LOW,,0.4377,0.6984,rs1143670,,,,,,chr3,121646641,121646641,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala356Ala/c.1068A>G|698|SLC15A2|protein_coding|CODING|NM_001145998.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala387Ala/c.1161A>G|729|SLC15A2|protein_coding|CODING|NM_021082.3|14|1)",GM06990:H3K36me3,,,,0.2965,0.2925,0.4235,0.45,0.45,0.45,,,,,,,,,,,,,,,,
missense_variant,SLC15A2,MISSENSE,NM_021082.3:p.Pro409Ser/c.1225C>T,Cca/Tca,MODERATE,,0.451877,0.6984,rs1143671,0.04(D),"0.517,0.86(P,P)",2.795(M),-0.9491(T),,chr3,121647286,121647286,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro378Ser/c.1132C>T|698|SLC15A2|protein_coding|CODING|NM_001145998.1|14|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro409Ser/c.1225C>T|729|SLC15A2|protein_coding|CODING|NM_021082.3|15|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.2939,0.4235,0.47,0.49,0.45,,0.050705(N),1.000(P),"3.44,3.44(T,T)",0.0000(T),0.036,1.317079,5.61,-0.531,-0.743000,-0.540000,-0.176000,0.084000,0.004000,0.313000,2.425
missense_variant,SLC15A2,MISSENSE,NM_021082.3:p.Arg509Lys/c.1526G>A,aGa/aAa,MODERATE,,0.451877,0.6984,rs1143672,1(T),"0.0,0.0(B,B)",-2.53(N),-0.9832(T),,chr3,121648168,121648168,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg478Lys/c.1433G>A|698|SLC15A2|protein_coding|CODING|NM_001145998.1|16|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg509Lys/c.1526G>A|729|SLC15A2|protein_coding|CODING|NM_021082.3|17|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.2939,0.4235,0.47,0.49,0.45,,0.137154(N),1.000(P),"1.6,1.6(T,T)",0.0000(T),0.014,-1.121929,4.95,-2.82,-0.254000,-0.474000,0.069000,0.559000,0.006000,0.271000,1.7513
synonymous_variant,ILDR1,SILENT,NM_001199799.1:p.Leu515Leu/c.1545T>G,ctT/ctG,LOW,COSM4157176(1),0.784944,0.9196,rs2877561,,,,,,chr3,121712051,121712051,A,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu515Leu/c.1545T>G|546|ILDR1|protein_coding|CODING|NM_001199799.1|7|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu426Leu/c.1278T>G|457|ILDR1|protein_coding|CODING|NM_001199800.1|5|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu471Leu/c.1413T>G|502|ILDR1|protein_coding|CODING|NM_175924.3|6|1)","GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000037117.1,,0.7975,0.5965,0.7087,0.75,0.82,0.71,,,,,,,,,,,,,,,,
missense_variant,CD86,MISSENSE,NM_175862.4:p.Val185Ile/c.553G>A,Gtt/Att,MODERATE,COSM4157177(1),0.868011,0.998,rs2681417,,,1.735(L),-1.0150(T),,chr3,121825197,121825197,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val73Ile/c.217G>A|217|CD86|protein_coding|CODING|NM_001206924.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val103Ile/c.307G>A|247|CD86|protein_coding|CODING|NM_001206925.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val179Ile/c.535G>A|323|CD86|protein_coding|CODING|NM_006889.4|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val185Ile/c.553G>A|329|CD86|protein_coding|CODING|NM_175862.4|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val179Ile/c.535G>A|275|CD86|protein_coding|CODING|NM_176892.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.8845,0.9409,0.9404,0.85,0.69,0.93,,,1.000(P),,0.0000(T),.,2.075267,5.43,-1.9,0.655000,-0.260000,-1.157000,0.286000,0.005000,0.000000,6.1662
missense_variant,CD86,MISSENSE,NM_175862.4:p.Ala310Thr/c.928G>A,Gcc/Acc,MODERATE,COSM3759652(2),0.342652,0.5972,rs1129055,0.14(T),"0.638,0.005(P,B)",1.24(L),-0.9216(T),,chr3,121838319,121838319,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala198Thr/c.592G>A|217|CD86|protein_coding|CODING|NM_001206924.1|6|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala228Thr/c.682G>A|247|CD86|protein_coding|CODING|NM_001206925.1|6|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala304Thr/c.910G>A|323|CD86|protein_coding|CODING|NM_006889.4|7|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala310Thr/c.928G>A|329|CD86|protein_coding|CODING|NM_175862.4|7|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala256Thr/c.766G>A|275|CD86|protein_coding|CODING|NM_176892.1|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.4796,0.2133,0.2823,0.23,0.17,0.26,,0.834660(N),1.000(P),"3.01,2.06,4.34,0.9,4.35(T,T,T,T,T)",0.0000(T),0.224,1.776513,4.07,3.2,0.563000,1.301000,0.767000,0.099000,0.027000,0.657000,7.8408
synonymous_variant,CASR,SILENT,NM_001178065.1:p.Pro758Pro/c.2274G>C,ccG/ccC,LOW,,0.972843,1,rs2036400,,,,,,chr3,122003045,122003045,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro748Pro/c.2244G>C|1078|CASR|protein_coding|CODING|NM_000388.3|7|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro758Pro/c.2274G>C|1088|CASR|protein_coding|CODING|NM_001178065.1|7|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,CASR,MISSENSE,NM_001178065.1:p.Glu1021Gln/c.3061G>C,Gag/Cag,MODERATE,,0.924121,0.9802,rs1801726,1(T),0.0(B),,-0.9370(T),,chr3,122003832,122003832,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu1011Gln/c.3031G>C|1078|CASR|protein_coding|CODING|NM_000388.3|7|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu1021Gln/c.3061G>C|1088|CASR|protein_coding|CODING|NM_001178065.1|7|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.955,0.9813,0.9632,0.92,0.84,0.96,,0.000354(N),1.000(P),"-2.35,-2.35,-2.35(D,D,D)",0.0000(T),0.06,-1.990063,5.79,5.79,-0.216000,1.476000,1.174000,0.063000,1.000000,1.000000,12.5539
synonymous_variant,CSTA,SILENT,NM_005213.3:p.Tyr35Tyr/c.105C>T,taC/taT,LOW,,0.392772,0.0923,rs17589,,,,,,chr3,122056432,122056432,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr35Tyr/c.105C>T|98|CSTA|protein_coding|CODING|NM_005213.3|2|1),"HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3926,0.549,0.5596,0.51,0.40,0.57,,,,,,,,,,,,,,,,
synonymous_variant,WDR5B,SILENT,NM_019069.3:p.Ile182Ile/c.546A>C,atA/atC,LOW,COSM3759657(1),0.196286,0.2192,rs3749213,,,,,,chr3,122133830,122133830,T,G,het,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile182Ile/c.546A>C|330|WDR5B|protein_coding|CODING|NM_019069.3|1|1),upstream_gene_variant(MODIFIER||1223|||LOC102723582||NON_CODING|NR_125405.1||1)","GM12878:H3K4me3,NH-A:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.2157,0.2118,0.2584,0.21,0.12,0.26,,,,,,,,,,,,,,,,
missense_variant,KPNA1,MISSENSE,NM_002264.3:p.Ser73Asn/c.218G>A,aGt/aAt,MODERATE,,0.99381,1,rs4678193,0.75(T),0.005(B),1.31(L),-0.9349(T),,chr3,122186188,122186188,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser73Asn/c.218G>A|538|KPNA1|protein_coding|CODING|NM_002264.3|3|1),non_coding_exon_variant(MODIFIER|||n.406G>A||KPNA1||CODING|NR_026698.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,0.002970(N),1.000(P),"0.87,0.87,0.87,0.87,0.87(T,T,T,T,T)",0.0000(T),0.056,0.850528,4.56,4.56,-0.516000,0.781000,4.464000,0.638000,0.998000,1.000000,8.4012
missense_variant,PARP9,MISSENSE,NM_001146102.1:p.Tyr528Cys/c.1583A>G,tAt/tGt,MODERATE,COSM4157180(1),0.506589,0.6548,rs9851180,0.06(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.39(N),-0.9137(T),,chr3,122259606,122259606,T,C,hom,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr528Cys/c.1583A>G|854|PARP9|protein_coding|CODING|NM_001146102.1|8|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr493Cys/c.1478A>G|819|PARP9|protein_coding|CODING|NM_001146103.1|8|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr493Cys/c.1478A>G|819|PARP9|protein_coding|CODING|NM_001146104.1|8|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr493Cys/c.1478A>G|819|PARP9|protein_coding|CODING|NM_001146105.1|8|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr493Cys/c.1478A>G|710|PARP9|protein_coding|CODING|NM_001146106.1|8|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr528Cys/c.1583A>G|854|PARP9|protein_coding|CODING|NM_031458.2|8|1)","GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4898,0.4092,0.5567,0.53,0.47,0.57,,0.010677(N),1.000(P),"3.32,3.0,3.17,3.17,2.32(T,T,T,T,T)",0.0000(T),0.077,0.765420,4.83,-8.73,-0.774000,-1.542000,-1.579000,0.000000,0.000000,0.000000,7.7858
synonymous_variant,PARP9,SILENT,NM_001146102.1:p.Val122Val/c.366C>G,gtC/gtG,LOW,COSM3759658(2),0.1873,0.2312,rs73192127,,,,,,chr3,122274757,122274757,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val122Val/c.366C>G|854|PARP9|protein_coding|CODING|NM_001146102.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val87Val/c.261C>G|819|PARP9|protein_coding|CODING|NM_001146103.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val87Val/c.261C>G|819|PARP9|protein_coding|CODING|NM_001146104.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val87Val/c.261C>G|819|PARP9|protein_coding|CODING|NM_001146105.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val87Val/c.261C>G|710|PARP9|protein_coding|CODING|NM_001146106.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val122Val/c.366C>G|854|PARP9|protein_coding|CODING|NM_031458.2|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2209,0.2046,0.2594,0.21,0.10,0.26,,,,,,,,,,,,,,,,
missense_variant,DTX3L,MISSENSE,NM_138287.3:p.Arg425Lys/c.1274G>A,aGg/aAg,MODERATE,,0.545927,0.6597,rs2332285,1(T),0.0(B),-2.075(N),-0.9327(T),,chr3,122288210,122288210,G,A,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg425Lys/c.1274G>A|740|DTX3L|protein_coding|CODING|NM_138287.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4939,0.5879,0.5606,0.54,0.49,0.57,,0.000529(N),0.000(P),1.85(T),0.0000(T),0.021,-0.112492,5.65,4.47,-0.254000,0.542000,1.192000,0.469000,0.965000,0.118000,8.3774
missense_variant,PARP15,MISSENSE,NM_001113523.1:p.Val42Met/c.124G>A,Gtg/Atg,MODERATE,COSM445418(1),0.236022,0.247,rs1875272,0.07(T),0.03(B),,-0.9089(T),,chr3,122296638,122296638,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val42Met/c.124G>A|678|PARP15|protein_coding|CODING|NM_001113523.1|1|1),"CD4:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K27me3,GM12878:PolII,CD4:H4K5ac,NHEK:H3K4me2,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1",,,,0.1472,0.33,0.2197,,,,,,1.000(P),"2.62,2.45(T,T)",0.0000(T),0.042,1.427298,2.55,0.535,0.561000,0.116000,-0.711000,0.035000,0.000000,0.000000,4.5242
synonymous_variant,PARP14,SILENT,NM_017554.2:p.Pro883Pro/c.2649C>T,ccC/ccT,LOW,,0.0131789,0.001,rs61732765,,,,,,chr3,122420050,122420050,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro883Pro/c.2649C>T|1801|PARP14|protein_coding|CODING|NM_017554.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0303,0.0398,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,PARP14,SILENT,NM_017554.2:p.Tyr1441Tyr/c.4323T>C,taT/taC,LOW,,0.91873,0.9802,rs7645033,,,,,,chr3,122437321,122437321,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1441Tyr/c.4323T>C|1801|PARP14|protein_coding|CODING|NM_017554.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9581,0.9352,0.8787,0.89,0.89,0.88,,,,,,,,,,,,,,,,
missense_variant,SEMA5B,MISSENSE,NM_001256347.1:p.Asp1082Gly/c.3245A>G,gAc/gGc,MODERATE,,0.607827,0.3571,rs2303983,0.31(T),"0.001,0.0(B,B)",0.345(N),-1.0403(T),,chr3,122630346,122630346,T,C,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp1028Gly/c.3083A>G|1151|SEMA5B|protein_coding|CODING|NM_001031702.3|21|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp1028Gly/c.3083A>G|1151|SEMA5B|protein_coding|CODING|NM_001256346.1|21|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp1082Gly/c.3245A>G|1205|SEMA5B|protein_coding|CODING|NM_001256347.1|21|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp934Gly/c.2801A>G|1057|SEMA5B|protein_coding|CODING|NM_001256348.1|20|1),non_coding_exon_variant(MODIFIER|||n.3274A>G||SEMA5B||CODING|NR_046079.1|21|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7147,0.6254,0.8091,0.75,0.58,0.83,,0.667284(N),1.000(P),"1.35,1.38,1.41,1.47(T,T,T,T)",0.0000(T),0.29,-0.708967,5.02,3.19,-1.736000,0.054000,1.895000,0.053000,0.176000,0.962000,5.9395
missense_variant,SEMA5B,MISSENSE,NM_001256347.1:p.Val894Asp/c.2681T>A,gTc/gAc,MODERATE,COSM3749802(3),0.601038,0.3522,rs2276782,1(T),"0.0,0.0(B,B)",-1.78(N),-0.9618(T),,chr3,122631896,122631896,A,T,het,"missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val840Asp/c.2519T>A|1151|SEMA5B|protein_coding|CODING|NM_001031702.3|18|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val840Asp/c.2519T>A|1151|SEMA5B|protein_coding|CODING|NM_001256346.1|18|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val894Asp/c.2681T>A|1205|SEMA5B|protein_coding|CODING|NM_001256347.1|18|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val782Asp/c.2345T>A|1057|SEMA5B|protein_coding|CODING|NM_001256348.1|17|1),non_coding_exon_variant(MODIFIER|||n.2713T>A||SEMA5B||CODING|NR_046079.1|18|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7198,0.621,0.8082,0.77,0.64,0.85,,0.000069(N),0.131(P),"1.43,1.38,1.48,1.5(T,T,T,T)",0.0000(T),0.301,0.248763,5.01,5.01,-0.257000,0.945000,4.886000,0.785000,0.990000,1.000000,10.6514
synonymous_variant,SEMA5B,SILENT,NM_001256347.1:p.Ile436Ile/c.1308C>T,atC/atT,LOW,COSM1752863(2),0.416334,0.3006,rs2276778,,,,,,chr3,122642590,122642590,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile382Ile/c.1146C>T|1151|SEMA5B|protein_coding|CODING|NM_001031702.3|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile382Ile/c.1146C>T|1151|SEMA5B|protein_coding|CODING|NM_001256346.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile436Ile/c.1308C>T|1205|SEMA5B|protein_coding|CODING|NM_001256347.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile324Ile/c.972C>T|1057|SEMA5B|protein_coding|CODING|NM_001256348.1|9|1),non_coding_exon_variant(MODIFIER|||n.1343C>T||SEMA5B||CODING|NR_046079.1|10|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.591,0.4366,0.6511,0.53,0.27,0.67,,,,,,,,,,,,,,,,
synonymous_variant,SEMA5B,SILENT,NM_001256347.1:p.Gly44Gly/c.132T>C,ggT/ggC,LOW,COSM328560(11),0.255192,0.3512,rs13094003,,,,,,chr3,122680141,122680141,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly44Gly/c.132T>C|1205|SEMA5B|protein_coding|CODING|NM_001256347.1|2|1),5_prime_UTR_variant(MODIFIER||31|c.-31T>C|1151|SEMA5B|protein_coding|CODING|NM_001031702.3|2|1),5_prime_UTR_variant(MODIFIER||31|c.-31T>C|1151|SEMA5B|protein_coding|CODING|NM_001256346.1|2|1),intron_variant(MODIFIER|||c.-50-12585T>C|1057|SEMA5B|protein_coding|CODING|NM_001256348.1|1|1),non_coding_exon_variant(MODIFIER|||n.167T>C||SEMA5B||CODING|NR_046079.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NH-A:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2127,0.268,0.2366,0.22,0.24,0.22,,,,,,,,,,,,,,,,
missense_variant,SEMA5B,MISSENSE,NM_001256347.1:p.Arg14Lys/c.41G>A,aGg/aAg,MODERATE,,0.190695,0.1121,rs9968193,0(D),,,-0.9191(T),,chr3,122694930,122694930,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg14Lys/c.41G>A|1205|SEMA5B|protein_coding|CODING|NM_001256347.1|1|1),intron_variant(MODIFIER|||c.-50-27374G>A|1057|SEMA5B|protein_coding|CODING|NM_001256348.1|1|1),intron_variant(MODIFIER|||c.-38-14782G>A|1151|SEMA5B|protein_coding|CODING|NM_001256346.1|1|1),intron_variant(MODIFIER|||c.-38-14782G>A|1151|SEMA5B|protein_coding|CODING|NM_001031702.3|1|1),intron_variant(MODIFIER|||n.160-14782G>A||SEMA5B||CODING|NR_046079.1|1|1)","HUVEC:H3K27me3,GM12878:PU1",,,,0.1176,0.0735,0.0666,,,,,,0.502(P),1.41(T),0.0000(T),0.027,1.246367,3.46,2.59,0.558000,1.037000,0.056000,0.139000,0.314000,0.006000,6.9536
synonymous_variant,PDIA5,SILENT,NM_006810.3:p.Ala326Ala/c.978G>A,gcG/gcA,LOW,COSM1178190(2),0.695288,0.8155,rs386550974,,,,,,chr3,122864436,122864436,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala326Ala/c.978G>A|519|PDIA5|protein_coding|CODING|NM_006810.3|12|1),non_coding_exon_variant(MODIFIER|||n.997G>A||PDIA5||CODING|NR_028444.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7157,0.5778,0.5775,0.59,0.69,0.55,,,,,,,,,,,,,,,,
synonymous_variant,PDIA5,SILENT,NM_006810.3:p.Cys456Cys/c.1368T>C,tgT/tgC,LOW,COSM3759673(1),0.281949,0.4613,rs8935,,,,,,chr3,122880191,122880191,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys456Cys/c.1368T>C|519|PDIA5|protein_coding|CODING|NM_006810.3|16|1),upstream_gene_variant(MODIFIER||450|||MIR7110||NON_CODING|NR_106960.1||1),non_coding_exon_variant(MODIFIER|||n.1368T>C||PDIA5||CODING|NR_028444.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.2699,0.281,0.328,0.26,0.17,0.31,,,,,,,,,,,,,,,,
synonymous_variant,ADCY5,SILENT,NM_183357.2:p.Gly48Gly/c.144C>T,ggC/ggT,LOW,COSM3759674(3),0.986621,1,rs4678027,,,,,,chr3,123167249,123167249,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly48Gly/c.144C>T|1261|ADCY5|protein_coding|CODING|NM_183357.2|1|1),"K562:ZBTB7A,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PTPLB,SILENT,NM_198402.3:p.Gly18Gly/c.54C>G,ggC/ggG,LOW,COSM1566307(7),0.405751,0.629,rs1271004,,,,,,chr3,123303821,123303821,G,C,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly18Gly/c.54C>G|254|PTPLB|protein_coding|CODING|NM_198402.3|1|1),upstream_gene_variant(MODIFIER||539|||MYLK-AS1||NON_CODING|NR_038266.2||1),upstream_gene_variant(MODIFIER||539|||MYLK-AS1||NON_CODING|NR_121654.1||1)","H1ESC:PolII,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.3252,0.3818,0.1779,0.16,0.26,0.12,,,,,,,,,,,,,,,,
synonymous_variant,MYLK,SILENT,NM_053025.3:p.Thr1186Thr/c.3558C>T,acC/acT,LOW,,0.332668,0.0685,rs386590265,,,,,,chr3,123411589,123411589,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1186Thr/c.3558C>T|1914|MYLK|protein_coding|CODING|NM_053025.3|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1117Thr/c.3351C>T|1845|MYLK|protein_coding|CODING|NM_053026.3|18|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1186Thr/c.3558C>T|1863|MYLK|protein_coding|CODING|NM_053027.3|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1117Thr/c.3351C>T|1794|MYLK|protein_coding|CODING|NM_053028.3|18|1),downstream_gene_variant(MODIFIER||335|||MYLK-AS2||NON_CODING|NR_046629.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,HUVEC:H3K27ac",,,,0.4202,0.4856,0.7594,0.56,0.17,0.76,,,,,,,,,,,,,,,,
synonymous_variant,MYLK,SILENT,NM_053025.3:p.Asn1134Asn/c.3402C>T,aaC/aaT,LOW,,0.947883,1,rs865358,,,,,,chr3,123418913,123418913,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1134Asn/c.3402C>T|1914|MYLK|protein_coding|CODING|NM_053025.3|18|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1065Asn/c.3195C>T|1845|MYLK|protein_coding|CODING|NM_053026.3|17|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1134Asn/c.3402C>T|1863|MYLK|protein_coding|CODING|NM_053027.3|18|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1065Asn/c.3195C>T|1794|MYLK|protein_coding|CODING|NM_053028.3|17|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9769,0.996,0.94,0.83,1.00,,,,,,,,,,,,,,,,
missense_variant,MYLK,MISSENSE,NM_053025.3:p.Leu496Val/c.1486C>G,Ctg/Gtg,MODERATE,,0.999002,1,rs9833275,0.46(T),"0.0,0.0,0.001(B,B,B)",-1.14(N),-0.9581(T),,chr3,123451773,123451773,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu496Val/c.1486C>G|1914|MYLK|protein_coding|CODING|NM_053025.3|11|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu496Val/c.1486C>G|1863|MYLK|protein_coding|CODING|NM_053027.3|11|1),intron_variant(MODIFIER|||c.1309+761C>G|1845|MYLK|protein_coding|CODING|NM_053026.3|10|1),intron_variant(MODIFIER|||c.1309+761C>G|1794|MYLK|protein_coding|CODING|NM_053028.3|10|1)","NHEK:H3K27ac,H1ESC:H3K36me3,IMR90:H2BK120ac,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,HSMM:H3K27ac,NHEK:H3K4me1,HMEC:H3K36me3,IMR90:H4K5ac,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H2BK12ac,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K36me3,HSMM:H3K4me1,IMR90:H3K27ac,IMR90:H4K91ac,HMEC:H3K4me1,HepG2:H3K36me3,IMR90:H3K18ac,HMEC:DNase1,IMR90:H2BK20ac,IMR90:H4K8ac",,,,1,1,1,1.00,1.00,1.00,,,0.000(P),"-0.11,-0.11,-0.11,-0.11(T,T,T,T)",0.0000(T),0.027,0.311724,5.29,5.29,-0.120000,1.485000,2.149000,0.897000,0.996000,0.877000,15.1724
synonymous_variant,MYLK,SILENT,NM_053025.3:p.Thr335Thr/c.1005C>T,acC/acT,LOW,,0.632788,0.9375,rs4678047,,,,,,chr3,123452838,123452838,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr335Thr/c.1005C>T|1914|MYLK|protein_coding|CODING|NM_053025.3|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr335Thr/c.1005C>T|1845|MYLK|protein_coding|CODING|NM_053026.3|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr335Thr/c.1005C>T|1863|MYLK|protein_coding|CODING|NM_053027.3|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr335Thr/c.1005C>T|1794|MYLK|protein_coding|CODING|NM_053028.3|10|1)","NHEK:H3K27ac,H1ESC:H3K36me3,IMR90:H2BK120ac,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,HSMM:H3K27ac,NHEK:H3K4me1,HMEC:H3K36me3,IMR90:H4K5ac,HSMM:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,IMR90:H2BK12ac,NH-A:DNase1,IMR90:H2AK5ac,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,HMEC:H3K4me1,HepG2:H3K36me3,NHEK:H3K4me2,IMR90:H3K18ac,HMEC:DNase1,IMR90:H2BK20ac,NHEK:DNase1,IMR90:H4K8ac",,,,0.6012,0.7262,0.6491,0.57,0.39,0.67,,,,,,,,,,,,,,,,
missense_variant,MYLK,MISSENSE,NM_053025.3:p.Pro147Ser/c.439C>T,Cca/Tca,MODERATE,,0.85623,0.9435,rs9840993,0.35(T),"0.111,0.069,0.008,0.076,0.104,0.052(B,B,B,B,B,B)",0.805(L),-0.9859(T),,chr3,123457893,123457893,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro147Ser/c.439C>T|1914|MYLK|protein_coding|CODING|NM_053025.3|7|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro147Ser/c.439C>T|1845|MYLK|protein_coding|CODING|NM_053026.3|7|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro147Ser/c.439C>T|1863|MYLK|protein_coding|CODING|NM_053027.3|7|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro147Ser/c.439C>T|1794|MYLK|protein_coding|CODING|NM_053028.3|7|1)","IMR90:H2BK120ac,GM06990:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K4ac,IMR90:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac",,,,0.91,0.9524,0.9871,0.87,0.64,0.99,,,0.000(P),"-0.39,-0.33,-0.39,-0.36,-0.33(T,T,T,T,T)",0.0000(T),0.019,1.062219,4.15,1.3,-0.797000,-0.067000,2.801000,0.558000,0.002000,0.999000,11.4296
synonymous_variant,CCDC14,SILENT,NM_022757.4:p.Ser773Ser/c.2319C>T,agC/agT,LOW,COSM3759678(2),0.842452,0.8859,rs2700373,,,,,,chr3,123634046,123634046,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser773Ser/c.2319C>T|912|CCDC14|protein_coding|CODING|NM_022757.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7607,0.8689,0.7137,0.81,0.92,0.75,,,,,,,,,,,,,,,,
missense_variant,CCDC14,MISSENSE,NM_022757.4:p.Thr324Pro/c.970A>C,Acg/Ccg,MODERATE,,0.298522,0.1002,rs17310144,0.28(T),"0.367,0.367,0.367(B,B,B)",0.69(N),-0.9451(T),,chr3,123665902,123665902,T,G,hom,missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr324Pro/c.970A>C|912|CCDC14|protein_coding|CODING|NM_022757.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4202,0.4035,0.5676,0.48,0.19,0.62,,0.277539(N),1.000(P),"0.9,0.9,0.9,0.9,0.9,0.9,0.96(T,T,T,T,T,T,T)",0.0000(T),0.218,1.869719,4.3,-2.21,0.533000,-0.253000,0.108000,0.434000,0.021000,0.000000,10.2117
synonymous_variant,KALRN,SILENT,NM_001024660.3:p.Phe403Phe/c.1209C>T,ttC/ttT,LOW,,0.753594,0.7837,rs2289778,,,,-1.0781(T),,chr3,124044949,124044949,C,T,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe403Phe/c.1209C>T|2986|KALRN|protein_coding|CODING|NM_001024660.3|7|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe403Phe/c.1209C>T|1663|KALRN|protein_coding|CODING|NM_003947.4|7|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.8793,0.8112,0.8897,0.79,0.59,0.90,,,0.000(P),,0.0000(T),.,1.180958,4.78,-6.99,-0.137000,-1.602000,-0.706000,0.956000,0.362000,0.076000,18.4565
synonymous_variant,KALRN,SILENT,NM_001024660.3:p.Tyr1410Tyr/c.4230C>T,taC/taT,LOW,,0.00758786,0,rs61740058,,,,-1.0059(T),,chr3,124201699,124201699,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1410Tyr/c.4230C>T|2986|KALRN|protein_coding|CODING|NM_001024660.3|28|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1410Tyr/c.4230C>T|1663|KALRN|protein_coding|CODING|NM_003947.4|28|1)","HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.0092,0.0144,0.0179,0.03,0.01,0.04,,,1.000(D),,0.0627(T),.,0.939650,5.31,3.53,0.655000,0.819000,1.928000,0.998000,1.000000,1.000000,8.0382
synonymous_variant,KALRN,SILENT,NM_001024660.3:p.Ser2654Ser/c.7962C>T,agC/agT,LOW,COSM3759681(1),0.141174,0.1855,rs2289427,,,,-1.0148(T),,chr3,124418846,124418846,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser2654Ser/c.7962C>T|2986|KALRN|protein_coding|CODING|NM_001024660.3|56|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser957Ser/c.2871C>T|1289|KALRN|protein_coding|CODING|NM_007064.3|23|1)","HepG2:H3K4me2,HepG2:p300,HepG2:H3K27ac,HepG2:PolII,HepG2:SP1,HepG2:HEY1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,HepG2:FOXA2,HepG2:H3K9ac,HepG2:FOXA1,HepG2:DNase1,HepG2:H3K27me3",,,,0.1544,0.1311,0.2256,0.16,0.06,0.21,,,0.000(P),,0.0001(T),.,1.370871,6.02,-3.27,-0.136000,-0.596000,-0.672000,0.993000,0.958000,0.116000,14.7569
missense_variant,MUC13,MISSENSE,NM_033049.3:p.Ile99Thr/c.296T>C,aTa/aCa,MODERATE,COSM149459(2),0.39377,0.2212,rs4679392,0.52(T),0.0(B),-0.55(N),-0.9353(T),,chr3,124646594,124646594,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile99Thr/c.296T>C|511|MUC13|protein_coding|CODING|NM_033049.3|2|1),HUVEC:H3K27me3,,,,0.453,0.4496,0.4294,0.43,0.45,0.42,,,1.000(P),2.62(T),0.0000(T),0.017,-0.404188,2.84,1.89,-0.156000,0.230000,0.394000,0.007000,0.000000,0.001000,4.1598
missense_variant,HEG1,MISSENSE,NM_020733.1:p.Met1039Thr/c.3116T>C,aTg/aCg,MODERATE,COSM3759687(1),0.628195,0.5982,rs6438869,1(T),0.0(B),-1.245(N),-0.8812(T),,chr3,124728626,124728626,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1039Thr/c.3116T>C|1381|HEG1|protein_coding|CODING|NM_020733.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.728,0.7233,0.6491,0.63,0.56,0.66,,0.159492(N),1.000(P),-2.83(D),0.0000(T),0.034,-3.164122,3.87,-7.74,-1.073000,-3.321000,-0.837000,0.095000,0.000000,0.000000,19.5521
missense_variant,HEG1,MISSENSE,NM_020733.1:p.Val980Leu/c.2938G>C,Gtg/Ctg,MODERATE,COSM3759688(1),0.746206,0.9286,rs10804567,0.97(T),"0.0,0.0(B,B)",-2.015(N),-0.9574(T),,chr3,124731485,124731485,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val980Leu/c.2938G>C|1381|HEG1|protein_coding|CODING|NM_020733.1|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8057,0.7363,0.6262,0.62,0.67,0.60,,0.428701(N),1.000(P),-2.24(D),0.0000(T),0.041,-1.056212,4.51,-9.01,-1.077000,-2.011000,-1.876000,0.004000,0.000000,0.000000,4.6055
missense_variant,HEG1,MISSENSE,NM_020733.1:p.Phe602Ser/c.1805T>C,tTt/tCt,MODERATE,COSM3759690(3),0.441094,0.4673,rs6790837,0.94(T),"0.0,0.0(B,B)",-1.61(N),-0.9681(T),,chr3,124732618,124732618,A,G,hom,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe602Ser/c.1805T>C|1381|HEG1|protein_coding|CODING|NM_020733.1|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6063,0.4409,0.5358,0.42,0.26,0.50,,,1.000(P),-2.16(D),0.0000(T),0.066,-0.850305,5.13,3.35,-0.132000,0.750000,2.578000,0.473000,0.929000,0.998000,9.2744
synonymous_variant,HEG1,SILENT,NM_020733.1:p.Ala332Ala/c.996C>T,gcC/gcT,LOW,,0.509585,0.4772,rs6438874,,,,,,chr3,124739892,124739892,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala332Ala/c.996C>T|1381|HEG1|protein_coding|CODING|NM_020733.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6033,0.4769,0.5437,0.48,0.43,0.51,,,,,,,,,,,,,,,,
missense_variant,HEG1,MISSENSE,NM_020733.1:p.Ser305Pro/c.913T>C,Tct/Cct,MODERATE,,0.488818,0.4782,rs2981546,,"0.007,0.003(B,B)",0.665(N),-0.9746(T),,chr3,124746049,124746049,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser305Pro/c.913T>C|1381|HEG1|protein_coding|CODING|NM_020733.1|3|1),splice_region_variant(LOW|||c.913T>C|1381|HEG1|protein_coding|CODING|NM_020733.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.4755,0.5457,0.46,0.36,0.50,,,1.000(P),0.86(T),0.0000(T),0.117,1.421656,4.78,-9.56,0.528000,-1.952000,-1.905000,0.084000,0.000000,0.000000,4.5132
synonymous_variant,HEG1,SILENT,NM_020733.1:p.Pro260Pro/c.780G>T,ccG/ccT,LOW,COSM3759693(3),0.513578,0.4782,rs2333041,,,,,,chr3,124746182,124746182,C,A,hom,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro260Pro/c.780G>T|1381|HEG1|protein_coding|CODING|NM_020733.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6043,0.4755,0.5457,0.49,0.45,0.51,,,,,,,,,,,,,,,,
synonymous_variant,HEG1,SILENT,NM_020733.1:p.Ser205Ser/c.615A>G,tcA/tcG,LOW,COSM3759694(2),0.76897,0.8889,rs4404487,,,,,,chr3,124746347,124746347,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser205Ser/c.615A>G|1381|HEG1|protein_coding|CODING|NM_020733.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8016,0.7248,0.6223,0.65,0.76,0.60,,,,,,,,,,,,,,,,
synonymous_variant,HEG1,SILENT,NM_020733.1:p.Gly141Gly/c.423C>T,ggC/ggT,LOW,COSM1418564(3),0.488818,0.4792,rs2860440,,,,,,chr3,124748226,124748226,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly141Gly/c.423C>T|1381|HEG1|protein_coding|CODING|NM_020733.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6043,0.4697,0.5457,0.46,0.37,0.51,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A8,SILENT,NM_001195483.1:p.Pro666Pro/c.1998T>C,ccT/ccC,LOW,,0.624201,0.5813,rs2981483,,,,,,chr3,124802881,124802881,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro666Pro/c.1998T>C|714|SLC12A8|protein_coding|CODING|NM_001195483.1|13|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro666Pro/c.1998T>C|714|SLC12A8|protein_coding|CODING|NM_024628.5|14|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NH-A:DNase1,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5327,0.5994,0.5388,0.60,0.77,0.52,,,,,,,,,,,,,,,,
missense_variant,SLC12A8,MISSENSE,NM_001195483.1:p.Arg664Gln/c.1991G>A,cGg/cAg,MODERATE,,0.620008,0.5813,rs2981482,0.12(T),"0.007,0.003,0.01(B,B,B)",0.92(L),-0.9516(T),,chr3,124802888,124802888,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg664Gln/c.1991G>A|714|SLC12A8|protein_coding|CODING|NM_001195483.1|13|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg664Gln/c.1991G>A|714|SLC12A8|protein_coding|CODING|NM_024628.5|14|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NH-A:DNase1,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5153,0.5994,0.5388,0.60,0.78,0.52,,,1.000(P),"-1.82,-2.31,-2.31,-2.31,-1.46(D,D,D,D,T)",0.0000(T),0.066,0.722884,5.42,1.63,-0.251000,0.669000,-0.951000,0.482000,0.165000,0.000000,5.9399
missense_variant,SLC12A8,MISSENSE,NM_001195483.1:p.Ile281Val/c.841A>G,Atc/Gtc,MODERATE,,0.999401,1,rs386601957,1(T),"0.002,0.001,0.001,0.004(B,B,B,B)",-1.085(N),-0.9498(T),,chr3,124837684,124837684,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile281Val/c.841A>G|714|SLC12A8|protein_coding|CODING|NM_001195483.1|7|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile281Val/c.841A>G|714|SLC12A8|protein_coding|CODING|NM_024628.5|8|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,,0.992(P),"-5.13,-5.13,-5.13,-5.13,-5.13,-5.13(D,D,D,D,D,D)",0.0000(T),0.196,0.007232,5.31,1.6,-0.226000,0.172000,0.667000,0.342000,0.190000,0.170000,9.4003
missense_variant,SLC12A8,MISSENSE,NM_001195483.1:p.Pro266Leu/c.797C>T,cCg/cTg,MODERATE,,0.984225,1,rs863642,0.75(T),"0.001,0.001,0.0,0.001,0.0(B,B,B,B,B)",-1.675(N),-0.9209(T),,chr3,124839470,124839470,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro266Leu/c.797C>T|714|SLC12A8|protein_coding|CODING|NM_001195483.1|6|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro266Leu/c.797C>T|714|SLC12A8|protein_coding|CODING|NM_024628.5|7|1)","GM12878:H3K4me3,GM12878:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:H3K4me3,H1ESC:H4K5ac,GM12878:EBF,K562:H3K27me3,NHEK:H3K36me3,GM12878:H3K4me1,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2",,,,1,0.9928,1,0.98,0.94,1.00,,,0.751(P),"-4.96,-4.96,-4.96,-4.96,-4.96,-4.96(D,D,D,D,D,D)",0.0000(T),0.301,2.419064,5.62,5.62,-0.254000,0.959000,6.066000,0.991000,1.000000,1.000000,10.121
synonymous_variant,SLC41A3,SILENT,NM_001008485.1:p.Leu425Leu/c.1275C>G,ctC/ctG,LOW,COSM3759696(1),0.665735,0.503,rs2279819,,,,,,chr3,125726048,125726048,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu399Leu/c.1197C>G|461|SLC41A3|protein_coding|CODING|NM_001008487.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu308Leu/c.924C>G|370|SLC41A3|protein_coding|CODING|NM_001164475.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu425Leu/c.1275C>G|487|SLC41A3|protein_coding|CODING|NM_017836.3|11|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu425Leu/c.1275C>G|507|SLC41A3|protein_coding|CODING|NM_001008485.1|11|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu389Leu/c.1167C>G|471|SLC41A3|protein_coding|CODING|NM_001008486.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5951,0.5461,0.6203,0.72,0.89,0.63,,,,,,,,,,,,,,,,
synonymous_variant,SLC41A3,SILENT,NM_001008487.1:p.Thr56Thr/c.168A>G,acA/acG,LOW,COSM4157219(1),0.994808,1,rs7613944,,,,,,chr3,125775228,125775228,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr56Thr/c.168A>G|461|SLC41A3|protein_coding|CODING|NM_001008487.1|1|1),intron_variant(MODIFIER|||c.273+11562A>G|471|SLC41A3|protein_coding|CODING|NM_001008486.1|2|1),intron_variant(MODIFIER|||c.274-5335A>G|507|SLC41A3|protein_coding|CODING|NM_001008485.1|2|1),intron_variant(MODIFIER|||c.274-5335A>G|487|SLC41A3|protein_coding|CODING|NM_017836.3|2|1),intron_variant(MODIFIER|||c.-78-5335A>G|370|SLC41A3|protein_coding|CODING|NM_001164475.1|1|1)","HUVEC:H3K36me3,HeLa-S3:H3K4me2,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K4me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,SLC41A3,MISSENSE,NM_001008485.1:p.Thr62Ala/c.184A>G,Acc/Gcc,MODERATE,,0.993211,1,rs4234270,0.69(T),"0.0,0.0,0.001,0.0(B,B,B,B)",-1.32(N),-1.0298(T),,chr3,125786879,125786879,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr62Ala/c.184A>G|507|SLC41A3|protein_coding|CODING|NM_001008485.1|2|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr62Ala/c.184A>G|471|SLC41A3|protein_coding|CODING|NM_001008486.1|2|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr62Ala/c.184A>G|487|SLC41A3|protein_coding|CODING|NM_017836.3|2|1),intron_variant(MODIFIER|||c.-78-16986A>G|370|SLC41A3|protein_coding|CODING|NM_001164475.1|1|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,0.99,0.97,1.00,,0.089463(N),1.000(P),"1.55,1.55,1.55,1.55,1.69,1.55,1.55,1.55,1.55,1.55,1.55,1.55,1.69(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.298,-1.570706,3.95,-4.75,-0.119000,-1.344000,-1.407000,0.004000,0.000000,0.000000,5.0727
missense_variant,ALDH1L1,MISSENSE,NM_001270364.1:p.Asp803Gly/c.2408A>G,gAc/gGc,MODERATE,,0.198083,0.126,rs1127717,0.1(T),"0.058,0.131,0.04(B,B,B)",0.745(N),-1.0561(T),,chr3,125826059,125826059,T,C,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp803Gly/c.2408A>G|912|ALDH1L1|protein_coding|CODING|NM_001270364.1|21|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp692Gly/c.2075A>G|801|ALDH1L1|protein_coding|CODING|NM_001270365.1|19|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp793Gly/c.2378A>G|902|ALDH1L1|protein_coding|CODING|NM_012190.3|21|1),intron_variant(MODIFIER|||n.252-668T>C||ALDH1L1-AS1||NON_CODING|NR_046602.1|3|1),non_coding_exon_variant(MODIFIER|||n.2477A>G||ALDH1L1||CODING|NR_072979.1|19|1)","K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2413,0.1571,0.2167,0.21,0.21,0.22,,0.011517(N),0.000(P),"-1.01,-1.01,-1.01,-1.01(T,T,T,T)",0.0002(T),0.212,1.342416,3.98,3.98,0.260000,1.677000,3.804000,0.533000,0.149000,0.928000,10.8723
missense_variant,ZXDC,MISSENSE,NM_025112.4:p.Glu271Asp/c.813G>C,gaG/gaC,MODERATE,,,,,0.11(T),"0.18,0.275(B,B)",0.725(N),-1.0586(T),,chr3,126193896,126193896,C,G,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu271Asp/c.813G>C|710|ZXDC|protein_coding|CODING|NM_001040653.3|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu271Asp/c.813G>C|858|ZXDC|protein_coding|CODING|NM_025112.4|1|1),non_coding_exon_variant(MODIFIER|||n.867G>C||ZXDC||CODING|NR_104249.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,CD4:H2BK5me1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,0.000008(U),0.970(D),"2.31,2.31(T,T)",0.0328(T),0.326,3.809245,3.99,3.99,0.491000,1.942000,0.730000,0.974000,1.000000,0.808000,10.0843
synonymous_variant,ZXDC,SILENT,NM_025112.4:p.Pro211Pro/c.633A>G,ccA/ccG,LOW,,0.547324,0.5724,rs812367,,,,,,chr3,126194076,126194076,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro211Pro/c.633A>G|710|ZXDC|protein_coding|CODING|NM_001040653.3|1|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro211Pro/c.633A>G|858|ZXDC|protein_coding|CODING|NM_025112.4|1|1),non_coding_exon_variant(MODIFIER|||n.687A>G||ZXDC||CODING|NR_104249.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,CD4:H2BK5me1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7403,0.5749,0.673,0.58,0.37,0.68,,,,,,,,,,,,,,,,
missense_variant,ZXDC,MISSENSE,NM_025112.4:p.Pro118Ala/c.352C>G,Ccc/Gcc,MODERATE,COSM4157225(3),0.988019,1,rs7624748,0.88(T),"0.0,0.0(B,B)",-0.455(N),-1.0020(T),,chr3,126194357,126194357,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro118Ala/c.352C>G|710|ZXDC|protein_coding|CODING|NM_001040653.3|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro118Ala/c.352C>G|858|ZXDC|protein_coding|CODING|NM_025112.4|1|1),non_coding_exon_variant(MODIFIER|||n.406C>G||ZXDC||CODING|NR_104249.1|1|1)","H1ESC:PolII,NHEK:CTCF,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HMEC:CTCF,H1ESC:Yy1,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,CD4:H3K4ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,1,0.9986,1,,,,,0.203825(N),1.000(P),"1.59,1.59(T,T)",0.0000(T),0.157,-2.487649,2.76,0.682,-0.444000,-0.117000,-0.312000,0.006000,0.003000,0.004000,6.5023
synonymous_variant,UROC1,SILENT,NM_001165974.1:p.Ala675Ala/c.2025C>T,gcC/gcT,LOW,COSM1484555(3),0.409145,0.4901,rs1687477,,,,,,chr3,126202257,126202257,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala675Ala/c.2025C>T|736|UROC1|protein_coding|CODING|NM_001165974.1|20|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala615Ala/c.1845C>T|676|UROC1|protein_coding|CODING|NM_144639.2|19|1)",IMR90:H3K27me3,,RCV000118813.2,,0.4673,0.4697,0.5239,0.43,0.23,0.53,,,,,,,,,,,,,,,,
synonymous_variant,UROC1,SILENT,NM_001165974.1:p.Gly412Gly/c.1236C>T,ggC/ggT,LOW,COSM4157228(1),0.216653,0.005,rs34025926,,,,,,chr3,126219627,126219627,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly412Gly/c.1236C>T|736|UROC1|protein_coding|CODING|NM_001165974.1|12|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly352Gly/c.1056C>T|676|UROC1|protein_coding|CODING|NM_144639.2|11|1)","NHEK:H3K27me3,IMR90:H3K27me3",,RCV000118812.2,,0.2924,0.2003,0.3091,0.30,0.26,0.31,,,,,,,,,,,,,,,,
synonymous_variant,CHST13,SILENT,NM_152889.2:p.Arg71Arg/c.213G>T,cgG/cgT,LOW,COSM445510(10),0.238618,0.255,rs6766712,,,,,,chr3,126260608,126260608,G,T,hom,synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg71Arg/c.213G>T|341|CHST13|protein_coding|CODING|NM_152889.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1391,0.2983,0.2525,0.23,0.25,0.23,,,,,,,,,,,,,,,,
synonymous_variant,CHST13,SILENT,NM_152889.2:p.Thr269Thr/c.807G>A,acG/acA,LOW,COSM3749808(3),0.321086,0.2569,rs1056524,0.11(T),,,-0.9312(T),,chr3,126261202,126261202,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr269Thr/c.807G>A|341|CHST13|protein_coding|CODING|NM_152889.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2055,0.3429,0.2972,0.34,0.43,0.29,,,0.000(P),,0.0000(T),.,-0.657045,4.21,-0.506,-0.657000,-0.053000,-1.276000,0.051000,0.997000,0.011000,2.203
missense_variant,CHST13,MISSENSE,NM_152889.2:p.Ala271Val/c.812C>T,gCg/gTg,MODERATE,COSM3749809(2),0.173722,0.255,rs1056523,0.44(T),0.523(P),1.445(L),-1.0529(T),,chr3,126261207,126261207,C,T,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala271Val/c.812C>T|341|CHST13|protein_coding|CODING|NM_152889.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1309,0.2695,0.2505,0.18,0.08,0.23,,0.001870(U),0.000(P),-0.81(T),0.0000(T),0.121,-0.603471,4.21,3.21,0.313000,1.886000,3.133000,0.053000,0.961000,0.994000,10.0784
missense_variant,CHST13,MISSENSE,NM_152889.2:p.Arg317Gln/c.950G>A,cGg/cAg,MODERATE,COSM3759701(2),0.321885,0.2569,rs1056522,0.33(T),0.085(B),1.3(L),-0.9288(T),,chr3,126261345,126261345,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg317Gln/c.950G>A|341|CHST13|protein_coding|CODING|NM_152889.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2065,0.3444,0.2992,0.33,0.43,0.28,,0.000428(U),0.000(P),-0.7(T),0.0000(T),0.043,0.698807,3.89,1.96,0.313000,0.102000,1.832000,0.060000,0.995000,1.000000,7.5408
synonymous_variant,C3orf22,SILENT,NM_152533.1:p.Leu73Leu/c.219C>T,ctC/ctT,LOW,COSM3759702(2),0.174321,0.255,rs869463,,,,,,chr3,126268918,126268918,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu73Leu/c.219C>T|141|C3orf22|protein_coding|CODING|NM_152533.1|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.135,0.2695,0.2485,0.19,0.08,0.24,,,,,,,,,,,,,,,,
synonymous_variant,TXNRD3,SILENT,NM_052883.1:p.Tyr566Tyr/c.1698T>C,taT/taC,LOW,,0.890775,0.8452,rs386613066,,,,,,chr3,126329910,126329910,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr530Tyr/c.1590T>C|607|TXNRD3|protein_coding|CODING|NM_001173513.1|13|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr566Tyr/c.1698T>C|643|TXNRD3|protein_coding|CODING|NM_052883.1|14|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7679,0.9726,0.9483,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLXNA1,SILENT,NM_032242.3:p.Leu1264Leu/c.3792C>A,ctC/ctA,LOW,COSM3759705(1),0.541534,0.6042,rs4679323,,,,,,chr3,126737268,126737268,C,A,hom,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu1264Leu/c.3792C>A|1896|PLXNA1|protein_coding|CODING|NM_032242.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.593,0.6066,0.662,0.60,0.43,0.69,,,,,,,,,,,,,,,,
synonymous_variant,MCM2,SILENT,NM_004526.3:p.Ile168Ile/c.504C>T,atC/atT,LOW,COSM4157232(1),0.596046,0.626,rs386619798,,,,-1.0177(T),,chr3,127323830,127323830,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile168Ile/c.504C>T|904|MCM2|protein_coding|CODING|NM_004526.3|4|1),non_coding_exon_variant(MODIFIER|||n.633C>T||MCM2||CODING|NR_073375.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.6124,0.7783,0.68,0.53,0.75,,,0.000(P),,0.0000(T),.,1.705740,5.29,-5.75,-0.469000,-0.956000,-1.096000,0.986000,0.922000,0.006000,7.8484
missense_variant,KBTBD12,MISSENSE,NM_207335.2:p.Gln22Lys/c.64C>A,Cag/Aag,MODERATE,COSM1418734(2),0.692692,0.6696,rs4141499,0.31(T),0.0(B),0.11(N),-0.9644(T),,chr3,127641968,127641968,C,A,hom,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln22Lys/c.64C>A|623|KBTBD12|protein_coding|CODING|NM_207335.2|1|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7658,0.4914,0.5716,0.64,0.81,0.57,,,0.000(P),"-0.47,-0.47(T,T)",0.0000(T),0.025,-0.880053,5.72,4.54,-0.539000,0.416000,3.562000,0.708000,0.071000,1.000000,12.9898
synonymous_variant,EEFSEC,SILENT,NM_021937.3:p.Gly52Gly/c.156C>T,ggC/ggT,LOW,COSM3749811(6),0.136182,0.0069,rs11711710,,,,,,chr3,127872506,127872506,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly52Gly/c.156C>T|596|EEFSEC|protein_coding|CODING|NM_021937.3|1|1),"NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.1646,0.134,0.1143,0.15,0.20,0.12,,,,,,,,,,,,,,,,
synonymous_variant,EEFSEC,SILENT,NM_021937.3:p.Pro84Pro/c.252A>G,ccA/ccG,LOW,COSM4157235(2),0.136781,0.0069,rs11719546,,,,,,chr3,127872602,127872602,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro84Pro/c.252A>G|596|EEFSEC|protein_coding|CODING|NM_021937.3|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.1646,0.134,0.1143,0.12,0.15,0.10,,,,,,,,,,,,,,,,
synonymous_variant,DNAJB8,SILENT,NM_153330.4:p.Phe104Phe/c.312T>C,ttT/ttC,LOW,COSM4002439(2),0.474042,0.4058,rs2659690,,,,,,chr3,128181777,128181777,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe104Phe/c.312T>C|232|DNAJB8|protein_coding|CODING|NM_153330.4|3|1),upstream_gene_variant(MODIFIER||660|||DNAJB8-AS1||NON_CODING|NR_037890.1||1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4489,0.5389,0.6352,0.55,0.41,0.62,,,,,,,,,,,,,,,,
synonymous_variant,GATA2,SILENT,NM_001145661.1:p.Thr188Thr/c.564G>C,acG/acC,LOW,,0.0185703,0,rs34870876,,,,,,chr3,128204877,128204877,C,G,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr188Thr/c.564G>C|480|GATA2|protein_coding|CODING|NM_001145661.1|4|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr188Thr/c.564G>C|466|GATA2|protein_coding|CODING|NM_001145662.1|3|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr188Thr/c.564G>C|480|GATA2|protein_coding|CODING|NM_032638.4|3|1)","K562:H3K4me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,K562:H3K4me2",,,,0.0133,0.0288,0.0586,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,C3orf27,SILENT,NM_007354.2:p.Ser120Ser/c.360T>C,tcT/tcC,LOW,COSM4157236(1),0.828874,0.6825,rs2734046,,,,,,chr3,128292213,128292213,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser120Ser/c.360T>C|149|C3orf27|protein_coding|CODING|NM_007354.2|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HUVEC:H3K4me1,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7689,0.8141,0.838,0.88,0.96,0.84,,,,,,,,,,,,,,,,
synonymous_variant,CNBP,SILENT,NM_001127192.1:p.Asp52Asp/c.156C>T,gaC/gaT,LOW,,0.757188,0.8879,rs386592313,,,,,,chr3,128890350,128890350,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp52Asp/c.156C>T|179|CNBP|protein_coding|CODING|NM_001127192.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp52Asp/c.156C>T|178|CNBP|protein_coding|CODING|NM_001127193.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp45Asp/c.135C>T|172|CNBP|protein_coding|CODING|NM_001127194.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp45Asp/c.135C>T|171|CNBP|protein_coding|CODING|NM_001127195.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp45Asp/c.135C>T|170|CNBP|protein_coding|CODING|NM_001127196.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp52Asp/c.156C>T|177|CNBP|protein_coding|CODING|NM_003418.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.8558,0.8674,0.9821,0.79,0.44,0.97,,,,,,,,,,,,,,,,
missense_variant,EFCAB12,MISSENSE,NM_207307.1:p.Arg197His/c.590G>A,cGc/cAc,MODERATE,COSM3759721(1),0.0219649,0,rs62266958,0.18(T),0.134(B),0.55(N),-1.0611(T),,chr3,129137188,129137188,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg197His/c.590G>A|572|EFCAB12|protein_coding|CODING|NM_207307.1|3|1),"HepG2:H3K4me2,H1ESC:H3K27me3,HepG2:HNF4A,HepG2:DNase1",,,,0.0112,0.0389,0.0676,0.05,0.01,0.06,,0.067674(N),1.000(N),"0.96,0.96,0.96(T,T,T)",0.0031(T),0.254,0.017548,4.73,-3.31,0.561000,-0.590000,-1.603000,0.053000,0.026000,0.008000,11.0011
missense_variant,IFT122,MISSENSE,NM_052985.3:p.Val658Ala/c.1973T>C,gTc/gCc,MODERATE,,,,,0.51(T),"0.005,0.949,0.001,0.002,0.001,0.003,0.002,0.005(B,D,B,B,B,B,B,B)",1.935(M),-0.4237(T),,chr3,129202494,129202494,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val599Ala/c.1796T>C|1234|IFT122|protein_coding|CODING|NM_001280541.1|15|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val457Ala/c.1370T>C|1091|IFT122|protein_coding|CODING|NM_001280545.1|16|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val398Ala/c.1193T>C|1032|IFT122|protein_coding|CODING|NM_001280546.1|13|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val548Ala/c.1643T>C|1182|IFT122|protein_coding|CODING|NM_018262.3|14|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val658Ala/c.1973T>C|1292|IFT122|protein_coding|CODING|NM_052985.3|16|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val607Ala/c.1820T>C|1241|IFT122|protein_coding|CODING|NM_052989.2|15|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val496Ala/c.1487T>C|1131|IFT122|protein_coding|CODING|NM_052990.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.004770(N),1.000(D),"-0.95,-0.95,-0.95,-0.95,-0.95,-0.95,-0.95,-0.95,-0.95(T,T,T,T,T,T,T,T,T)",0.4325(T),0.354,1.163077,5.65,0.591,-0.398000,-0.105000,2.062000,0.782000,0.584000,1.000000,9.5455
missense_variant,PLXND1,MISSENSE,NM_015103.2:p.Ser1542Asn/c.4625G>A,aGt/aAt,MODERATE,COSM4157248(1),0.9998,1,rs2713625,0.64(T),0.0(B),-0.195(N),-0.9713(T),,chr3,129281980,129281980,C,T,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1542Asn/c.4625G>A|1925|PLXND1|protein_coding|CODING|NM_015103.2|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,0.000003(N),0.000(P),"2.9,2.9(T,T)",0.0000(T),0.148,0.133369,5.25,4.09,-0.521000,0.332000,4.266000,0.682000,0.918000,1.000000,9.6436
missense_variant,PLXND1,MISSENSE,NM_015103.2:p.Leu1412Val/c.4234T>G,Ttg/Gtg,MODERATE,COSM3759727(1),0.176717,0.003,rs2625973,0.01(D),"0.95,0.998(D,D)",2.215(M),-1.0405(T),,chr3,129284818,129284818,A,C,het,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu1412Val/c.4234T>G|1925|PLXND1|protein_coding|CODING|NM_015103.2|24|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1605,0.1859,0.3072,0.26,0.22,0.28,,0.000010(D),0.000(P),"2.34,2.34(T,T)",0.0000(T),0.382,2.191443,5.07,2.2,-0.468000,0.500000,1.715000,0.424000,1.000000,0.998000,9.4371
synonymous_variant,PLXND1,SILENT,NM_015103.2:p.Leu1336Leu/c.4008C>G,ctC/ctG,LOW,COSM3759728(4),0.517971,0.7431,rs2245285,,,,,,chr3,129286413,129286413,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1336Leu/c.4008C>G|1925|PLXND1|protein_coding|CODING|NM_015103.2|22|1),"CD4:H4K91ac,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4387,0.379,0.3519,0.40,0.55,0.32,,,,,,,,,,,,,,,,
synonymous_variant,PLXND1,SILENT,NM_015103.2:p.Phe1293Phe/c.3879C>T,ttC/ttT,LOW,COSM3759731(2),0.264177,0.3869,rs2245278,,,,,,chr3,129286635,129286635,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1293Phe/c.3879C>T|1925|PLXND1|protein_coding|CODING|NM_015103.2|21|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1963,0.1873,0.3101,0.26,0.23,0.28,,,,,,,,,,,,,,,,
synonymous_variant,PLXND1,SILENT,NM_015103.2:p.Pro957Pro/c.2871A>G,ccA/ccG,LOW,COSM3759734(1),0.430312,0.5119,rs2244708,,,,,,chr3,129291751,129291751,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro957Pro/c.2871A>G|1925|PLXND1|protein_coding|CODING|NM_015103.2|14|1),"H1ESC:H3K36me3,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.2955,0.2911,0.3479,0.40,0.57,0.32,,,,,,,,,,,,,,,,
missense_variant,PLXND1,MISSENSE,NM_015103.2:p.His894Arg/c.2681A>G,cAc/cGc,MODERATE,COSM3749813(3),0.988219,1,rs2625962,0.83(T),0.002(B),0.465(N),-0.9447(T),,chr3,129293183,129293183,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His894Arg/c.2681A>G|1925|PLXND1|protein_coding|CODING|NM_015103.2|12|1),"H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,0.069504(N),0.000(P),"-0.9,-0.9(T,T)",0.0000(T),0.115,-1.496387,4.22,3.29,-0.441000,0.308000,1.056000,0.006000,0.418000,0.598000,8.8752
missense_variant,PLXND1,MISSENSE,NM_015103.2:p.Met870Val/c.2608A>G,Atg/Gtg,MODERATE,COSM1418855(2),0.511981,0.5109,rs2255703,0.45(T),0.0(B),-1.5(N),-0.9912(T),,chr3,129293256,129293256,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met870Val/c.2608A>G|1925|PLXND1|protein_coding|CODING|NM_015103.2|12|1),"H1ESC:H3K36me3,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3",,,,0.4397,0.3559,0.4115,0.49,0.67,0.39,,0.391612(N),0.762(P),"1.63,1.58(T,T)",0.0000(T),0.031,-2.338084,4.32,0.907,-1.183000,0.076000,0.079000,0.025000,0.724000,0.011000,2.0191
synonymous_variant,PLXND1,SILENT,NM_015103.2:p.Asn491Asn/c.1473C>T,aaC/aaT,LOW,COSM3759738(2),0.134185,0.2421,rs2285373,,,,,,chr3,129308209,129308209,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn491Asn/c.1473C>T|1925|PLXND1|protein_coding|CODING|NM_015103.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1667,0.134,0.0984,0.08,0.06,0.09,,,,,,,,,,,,,,,,
synonymous_variant,PLXND1,SILENT,NM_015103.2:p.Cys430Cys/c.1290T>C,tgT/tgC,LOW,,0.978435,1,rs7619850,,,,,,chr3,129324193,129324193,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys430Cys/c.1290T>C|1925|PLXND1|protein_coding|CODING|NM_015103.2|1|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,1,0.9986,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,TMCC1,MISSENSE,NM_001017395.3:p.Ser165Gly/c.493A>G,Agc/Ggc,MODERATE,,0.965256,0.998,rs784689,0.41(T),0.0(B),1.04(L),-0.9924(T),,chr3,129546729,129546729,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser51Gly/c.151A>G|539|TMCC1|protein_coding|CODING|NM_001128224.2|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser165Gly/c.493A>G|653|TMCC1|protein_coding|CODING|NM_001017395.3|3|1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1",,,,0.999,0.9914,1,0.96,0.89,1.00,,0.000000(D),0.000(P),"1.38,1.36,0.69(T,T,T)",0.0000(T),0.107,2.070571,5.98,3.62,0.482000,0.519000,4.577000,0.983000,1.000000,1.000000,10.3716
synonymous_variant,TRH,SILENT,NM_007117.4:p.Leu208Leu/c.624T>C,ctT/ctC,LOW,,0.958067,1,rs5662,,,,,,chr3,129695954,129695954,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu208Leu/c.624T>C|242|TRH|protein_coding|CODING|NM_007117.4|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9741,0.999,0.95,0.86,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TRH,SILENT,NM_007117.4:p.Arg237Arg/c.711A>G,agA/agG,LOW,,0.958067,1,rs5663,,,,,,chr3,129696041,129696041,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg237Arg/c.711A>G|242|TRH|protein_coding|CODING|NM_007117.4|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9741,0.999,0.95,0.86,1.00,,,,,,,,,,,,,,,,
missense_variant,COL6A5,MISSENSE,NM_001278298.1:p.His805Arg/c.2414A>G,cAt/cGt,MODERATE,,0.00798722,0,rs16827168,0.49(T),0.012(B),1.39(L),-0.9494(T),,chr3,130107975,130107975,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His805Arg/c.2414A>G|2614|COL6A5|protein_coding|CODING|NM_001278298.1|6|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His805Arg/c.2414A>G|2526|COL6A5|protein_coding|CODING|NM_153264.6|6|1),splice_region_variant(LOW|||c.2414A>G|2614|COL6A5|protein_coding|CODING|NM_001278298.1|6|1),splice_region_variant(LOW|||c.2414A>G|2526|COL6A5|protein_coding|CODING|NM_153264.6|6|1),splice_region_variant(LOW|||n.2908A>G||COL6A5||CODING|NR_022012.2|6|1),non_coding_exon_variant(MODIFIER|||n.2908A>G||COL6A5||CODING|NR_022012.2|6|1)","K562:H3K27ac,K562:DNase1",,,,0.0051,0.0101,0.0268,0.02,0.01,0.03,,,1.000(N),"-1.1,-1.1(T,T)",0.1357(T),0.128,0.420707,5.18,3.99,0.528000,0.860000,1.624000,0.648000,0.235000,0.043000,11.6949
missense_variant,COL6A5,MISSENSE,NM_001278298.1:p.Thr1280Pro/c.3838A>C,Act/Cct,MODERATE,,0.339257,0.1726,rs12488457,0.29(T),0.972(D),1.78(L),-1.0345(T),,chr3,130116696,130116696,A,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr1280Pro/c.3838A>C|2614|COL6A5|protein_coding|CODING|NM_001278298.1|9|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr1280Pro/c.3838A>C|2526|COL6A5|protein_coding|CODING|NM_153264.6|9|1),non_coding_exon_variant(MODIFIER|||n.4332A>C||COL6A5||CODING|NR_022012.2|9|1)",HepG2:H3K27me3,,,,0.4427,0.4294,0.7247,0.55,0.16,0.71,,,0.994(P),"1.16,1.16(T,T)",0.0000(T),0.54,2.254022,5.26,3.97,0.459000,1.985000,1.267000,0.927000,0.997000,0.878000,10.2233
synonymous_variant,COL6A5,SILENT,NM_001278298.1:p.Ala1447Ala/c.4341G>A,gcG/gcA,LOW,COSM1418897(1),0.448283,0.1736,rs10934940,,,,,,chr3,130124491,130124491,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1447Ala/c.4341G>A|2614|COL6A5|protein_coding|CODING|NM_001278298.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1447Ala/c.4341G>A|2526|COL6A5|protein_coding|CODING|NM_153264.6|14|1),non_coding_exon_variant(MODIFIER|||n.4835G>A||COL6A5||CODING|NR_022012.2|14|1)","K562:H3K36me3,NHEK:H3K27me3",,,,0.5307,0.4885,0.7654,0.65,0.42,0.76,,,,,,,,,,,,,,,,
synonymous_variant,COL6A5,SILENT,NM_001278298.1:p.Asp1465Asp/c.4395C>T,gaC/gaT,LOW,,0.408946,0.1796,rs4688761,,,,,,chr3,130124989,130124989,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1465Asp/c.4395C>T|2614|COL6A5|protein_coding|CODING|NM_001278298.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1465Asp/c.4395C>T|2526|COL6A5|protein_coding|CODING|NM_153264.6|16|1),non_coding_exon_variant(MODIFIER|||n.4889C>T||COL6A5||CODING|NR_022012.2|16|1)","K562:H3K36me3,NHEK:H3K27me3",,,,0.4468,0.4625,0.7256,0.61,0.37,0.71,,,,,,,,,,,,,,,,
missense_variant,COL6A5,MISSENSE,NM_001278298.1:p.Cys1477Ser/c.4430G>C,tGt/tCt,MODERATE,COSM4157259(1),0.452077,0.1855,rs111169540,0.7(T),0.0(B),-0.325(N),-0.9565(T),,chr3,130125116,130125116,G,C,hom,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys1477Ser/c.4430G>C|2614|COL6A5|protein_coding|CODING|NM_001278298.1|17|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys1477Ser/c.4430G>C|2526|COL6A5|protein_coding|CODING|NM_153264.6|17|1),non_coding_exon_variant(MODIFIER|||n.4924G>C||COL6A5||CODING|NR_022012.2|17|1)","K562:H3K36me3,NHEK:H3K27me3",,,,0.5307,0.4885,0.7664,,,,,,1.000(P),"-3.34,-3.34(D,D)",0.0000(T),0.06,0.717721,5.56,0.227,-1.104000,-0.070000,-0.617000,0.364000,0.000000,0.000000,0.9297
missense_variant,COL6A5,MISSENSE,NM_001278298.1:p.Ser1589Pro/c.4765T>C,Tca/Cca,MODERATE,COSM4157260(1),0.451278,0.1875,rs16827497,0.35(T),0.005(B),-1.425(N),-0.9701(T),,chr3,130134492,130134492,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser1589Pro/c.4765T>C|2614|COL6A5|protein_coding|CODING|NM_001278298.1|23|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser1589Pro/c.4765T>C|2526|COL6A5|protein_coding|CODING|NM_153264.6|23|1),non_coding_exon_variant(MODIFIER|||n.5259T>C||COL6A5||CODING|NR_022012.2|23|1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.5307,0.4914,0.7674,0.66,0.42,0.76,,,1.000(P),"-3.39,-3.39(D,D)",0.0000(T),0.112,0.600083,3.81,-5.28,0.454000,-1.043000,-2.755000,0.141000,0.000000,0.000000,5.9244
missense_variant,COL6A5,MISSENSE,NM_001278298.1:p.Gln2188Arg/c.6563A>G,cAa/cGa,MODERATE,,0.854233,0.8452,rs111200076,0.55(T),"0.0,0.001(B,B)",0.69(N),-0.9653(T),,chr3,130162395,130162395,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln2188Arg/c.6563A>G|2614|COL6A5|protein_coding|CODING|NM_001278298.1|36|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln2188Arg/c.6563A>G|2526|COL6A5|protein_coding|CODING|NM_153264.6|36|1),non_coding_exon_variant(MODIFIER|||n.7057A>G||COL6A5||CODING|NR_022012.2|36|1)",K562:H3K36me3,,,,0.8845,0.8963,0.9493,0.90,0.78,0.95,,0.490369(N),1.000(P),"-2.39,-2.48,-0.94,-0.72(D,D,T,T)",0.0000(T),0.179,0.010180,4.67,-6.31,-1.525000,-1.317000,-0.928000,0.000000,0.000000,0.000000,0.5753
missense_variant,COL6A5,MISSENSE,NM_001278298.1:p.Gly2205Asp/c.6614G>A,gGt/gAt,MODERATE,,0.903155,0.9563,rs819085,0.49(T),"0.0,0.009(B,B)",0(N),-0.9846(T),,chr3,130174334,130174334,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly2205Asp/c.6614G>A|2614|COL6A5|protein_coding|CODING|NM_001278298.1|37|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly2205Asp/c.6614G>A|2526|COL6A5|protein_coding|CODING|NM_153264.6|37|1),non_coding_exon_variant(MODIFIER|||n.7108G>A||COL6A5||CODING|NR_022012.2|37|1)",,,,,0.907,0.9035,0.9433,0.92,0.86,0.95,,0.185094(N),1.000(P),"-2.29,-2.37,-0.85,-0.71(D,D,T,T)",0.0000(T),0.422,0.156217,4.38,1.81,-0.269000,-0.022000,1.082000,0.005000,0.000000,0.019000,1.3752
synonymous_variant,COL6A5,SILENT,NM_001278298.1:p.Ile2323Ile/c.6969T>C,atT/atC,LOW,COSM4157262(1),0.890176,0.8899,rs322113,,,,-1.0812(T),,chr3,130187817,130187817,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile2323Ile/c.6969T>C|2614|COL6A5|protein_coding|CODING|NM_001278298.1|38|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile2323Ile/c.6969T>C|2526|COL6A5|protein_coding|CODING|NM_153264.6|38|1),non_coding_exon_variant(MODIFIER|||n.7463T>C||COL6A5||CODING|NR_022012.2|38|1)",,,,,0.9427,0.9092,0.9115,0.89,0.85,0.91,,,1.000(P),,0.0000(T),.,-1.570165,5.34,-8.9,-2.998000,-2.736000,-0.538000,0.000000,0.000000,0.003000,5.4268
missense_variant,COL6A5,MISSENSE,NM_001278298.1:p.Ser2560Asn/c.7679G>A,aGt/aAt,MODERATE,COSM3846199(1),0.765575,0.8482,rs322117,0.76(T),0.0(B),,-0.9513(T),,chr3,130190630,130190630,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2560Asn/c.7679G>A|2614|COL6A5|protein_coding|CODING|NM_001278298.1|40|1),intron_variant(MODIFIER|||c.7574+819G>A|2526|COL6A5|protein_coding|CODING|NM_153264.6|39|1),non_coding_exon_variant(MODIFIER|||n.8173G>A||COL6A5||CODING|NR_022012.2|40|1)",HUVEC:H3K27me3,,,,0.8364,0.7968,0.8479,,,,,,1.000(P),"-2.37,-0.74,-0.55(D,T,T)",0.0000(T),0.017,-1.071378,5.54,1.6,-0.332000,0.071000,0.738000,0.002000,0.000000,0.000000,1.3592
missense_variant,COL6A6,MISSENSE,NM_001102608.1:p.Ala370Thr/c.1108G>A,Gcc/Acc,MODERATE,COSM4002455(2),0.51897,0.4435,rs9830253,0.26(T),0.886(P),2.575(M),-0.9026(T),,chr3,130284284,130284284,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala370Thr/c.1108G>A|2263|COL6A6|protein_coding|CODING|NM_001102608.1|3|1),"GM12878:H3K27me3,GM12878:H3K36me3,HeLa-S3:CTCF,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.638,0.7522,0.8221,0.66,0.29,0.84,,0.000652(D),0.026(P),"-1.36,-1.36(T,T)",0.0000(T),0.2,2.845762,5.01,4.08,0.561000,2.492000,3.264000,0.050000,0.529000,0.989000,8.0369
synonymous_variant,COL6A6,SILENT,NM_001102608.1:p.Leu1265Leu/c.3793T>C,Ttg/Ctg,LOW,COSM4002459(1),0.578275,0.4444,rs386602764,,,,,,chr3,130300650,130300650,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1265Leu/c.3793T>C|2263|COL6A6|protein_coding|CODING|NM_001102608.1|8|1),NHEK:H3K27me3,,,,0.6616,0.7824,0.8638,0.73,0.42,0.88,,,,,,,,,,,,,,,,
synonymous_variant,ASTE1,SILENT,NM_001288950.1:p.Thr583Thr/c.1749G>A,acG/acA,LOW,,0.155152,0.13,rs7641006,,,,,,chr3,130734061,130734061,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr583Thr/c.1749G>A|704|ASTE1|protein_coding|CODING|NM_001288950.1|6|1),intron_variant(MODIFIER|||c.2630-935C>T|888|ATP2C1|protein_coding|CODING|NM_001001485.2|27|1),intron_variant(MODIFIER|||c.2630-935C>T|888|ATP2C1|protein_coding|CODING|NM_001199185.1|26|1),intron_variant(MODIFIER|||c.2725-935C>T|939|ATP2C1|protein_coding|CODING|NM_001001487.1|27|1),intron_variant(MODIFIER|||c.2827-935C>T|973|ATP2C1|protein_coding|CODING|NM_001199180.1|27|1),intron_variant(MODIFIER|||c.2677-935C>T|923|ATP2C1|protein_coding|CODING|NM_001199183.1|27|1),intron_variant(MODIFIER|||c.2755-935C>T|949|ATP2C1|protein_coding|CODING|NM_001001486.1|27|1),intron_variant(MODIFIER|||c.2740-935C>T|944|ATP2C1|protein_coding|CODING|NM_001199182.1|26|1),intron_variant(MODIFIER|||c.1710-830G>A|679|ASTE1|protein_coding|CODING|NM_014065.3|5|1),intron_variant(MODIFIER|||n.2264-830G>A||ASTE1||CODING|NR_110229.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2372,0.1297,0.2157,,,,,,,,,,,,,,,,,,,
synonymous_variant,ASTE1,SILENT,NM_001288950.1:p.Tyr113Tyr/c.339C>T,taC/taT,LOW,COSM3759756(1),0.166534,0.131,rs35558913,,,,,,chr3,130743812,130743812,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr113Tyr/c.339C>T|704|ASTE1|protein_coding|CODING|NM_001288950.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr113Tyr/c.339C>T|679|ASTE1|protein_coding|CODING|NM_014065.3|3|1),upstream_gene_variant(MODIFIER||1882||599|NEK11|protein_coding|CODING|NM_001146003.1||1),upstream_gene_variant(MODIFIER||1882||645|NEK11|protein_coding|CODING|NM_024800.4||1),upstream_gene_variant(MODIFIER||1882||470|NEK11|protein_coding|CODING|NM_145910.3||1),non_coding_exon_variant(MODIFIER|||n.833C>T||ASTE1||CODING|NR_110229.1|3|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2382,0.1369,0.2197,0.19,0.14,0.22,,,,,,,,,,,,,,,,
missense_variant,NEK11,MISSENSE,NM_024800.4:p.Glu488Val/c.1463A>T,gAa/gTa,MODERATE,COSM4002464(2),0.49401,0.4058,rs3738000,0.07(T),"0.998,0.997,0.999,0.997(D,D,D,D)",1.735(L),-0.8675(T),,chr3,130947435,130947435,A,T,het,"missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu488Val/c.1463A>T|599|NEK11|protein_coding|CODING|NM_001146003.1|14|1),missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu488Val/c.1463A>T|645|NEK11|protein_coding|CODING|NM_024800.4|15|1)",H1ESC:Nrsf,,,,0.7239,0.5879,0.7018,0.56,0.26,0.71,,0.065583(N),0.000(P),"-0.91,-0.73,-1.0,-0.73,-0.96,-0.73(T,T,T,T,T,T)",0.0000(T),0.483,3.467512,5.67,5.67,0.533000,2.144000,5.115000,0.382000,1.000000,1.000000,13.4265
synonymous_variant,CPNE4,SILENT,NM_001289112.1:p.Ser441Ser/c.1323A>G,tcA/tcG,LOW,,0.175319,0.1141,rs11915192,,,,,,chr3,131268824,131268824,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser441Ser/c.1323A>G|575|CPNE4|protein_coding|CODING|NM_001289112.1|14|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser423Ser/c.1269A>G|557|CPNE4|protein_coding|CODING|NM_130808.2|14|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser441Ser/c.1323A>G|575|CPNE4|protein_coding|CODING|NM_153429.1|15|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.2209,0.1268,0.1352,0.16,0.22,0.14,,,,,,,,,,,,,,,,
synonymous_variant,CPNE4,SILENT,NM_001289112.1:p.Gly74Gly/c.222G>C,ggG/ggC,LOW,,0.175319,0.1508,rs3749263,,,,,,chr3,131624120,131624120,C,G,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly74Gly/c.222G>C|575|CPNE4|protein_coding|CODING|NM_001289112.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly56Gly/c.168G>C|557|CPNE4|protein_coding|CODING|NM_130808.2|2|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly74Gly/c.222G>C|575|CPNE4|protein_coding|CODING|NM_153429.1|3|1)",,,,,0.1411,0.0879,0.1103,0.17,0.29,0.10,,,,,,,,,,,,,,,,
missense_variant,DNAJC13,MISSENSE,NM_015268.3:p.Ala1463Ser/c.4387G>T,Gct/Tct,MODERATE,,0.739018,0.8839,rs3762672,1(T),0.0(B),-2.165(N),-0.9492(T),,chr3,132218623,132218623,G,T,het,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala1463Ser/c.4387G>T|2243|DNAJC13|protein_coding|CODING|NM_015268.3|38|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.682,0.513,0.4891,0.62,0.89,0.48,,0.000000(N),0.999(P),0.91(T),0.0000(T),0.106,1.017079,5.17,5.17,-0.375000,0.901000,5.799000,0.970000,1.000000,1.000000,12.5822
missense_variant,DNAJC13,MISSENSE,NM_015268.3:p.Pro1515Ser/c.4543C>T,Ccc/Tcc,MODERATE,,0.0119808,0,rs55825559,0.16(T),0.014(B),2.1(M),-1.0362(T),,chr3,132221139,132221139,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro1515Ser/c.4543C>T|2243|DNAJC13|protein_coding|CODING|NM_015268.3|40|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0245,0.0368,0.02,0.01,0.03,,0.000000(D),1.000(D),0.68(T),0.0602(T),0.242,2.678748,5.81,5.81,0.650000,2.734000,4.644000,0.614000,0.998000,1.000000,16.3288
missense_variant,ACAD11,MISSENSE,NM_032169.4:p.Arg157His/c.470G>A,cGt/cAt,MODERATE,,1,1,rs821572,1(T),"0.0,0.0(B,B)",-4.385(N),-0.9442(T),,chr3,132360883,132360883,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg157His/c.470G>A|780|ACAD11|protein_coding|CODING|NM_032169.4|4|1),non_coding_exon_variant(MODIFIER|||n.4311G>A||NPHP3-ACAD11||NON_CODING|NR_037804.1|29|1)","NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,1,1,1,,,,,,0.000(P),"2.79,2.79,2.79(T,T,T)",0.0000(T),0.4,0.251119,5.49,5.49,-0.360000,1.017000,5.246000,0.495000,0.945000,1.000000,11.7342
synonymous_variant,TMEM108,SILENT,NM_001136469.2:p.Pro230Pro/c.690G>A,ccG/ccA,LOW,COSM4157279(1),0.380192,0.3909,rs1197314,,,,,,chr3,133099245,133099245,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro230Pro/c.690G>A|575|TMEM108|protein_coding|CODING|NM_001136469.2|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro230Pro/c.690G>A|575|TMEM108|protein_coding|CODING|NM_023943.3|4|1),intron_variant(MODIFIER|||c.41-9779G>A|105|TMEM108|protein_coding|CODING|NM_001282865.1|2|1)","H1ESC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3896,0.4856,0.4473,0.39,0.30,0.43,,,,,,,,,,,,,,,,
synonymous_variant,BFSP2,SILENT,NM_003571.3:p.Ala201Ala/c.603G>A,gcG/gcA,LOW,,0.436502,0.5853,rs2276737,,,,,,chr3,133167363,133167363,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala201Ala/c.603G>A|415|BFSP2|protein_coding|CODING|NM_003571.3|3|1),"CD4:H2AZ,GM12878:Pax5,HUVEC:H3K27me3,GM12878:BATF,GM12878:H3K27ac,CD4:H4K8ac,GM12878:MEF2C,GM12878:Jund,CD4:H3K27ac,GM12878:POU2F2,GM12878:Yy1,GM12878:Cjun,GM12878:MEF2A,GM12878:IRF4,GM12878:BCL11A,CD4:H4K5ac,IMR90:H3K27me3,HSMM:H3K27me3,GM12878:DNase1,GM12878:PU1,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.638,0.3833,0.5746,0.46,0.17,0.61,,,,,,,,,,,,,,,,
synonymous_variant,TOPBP1,SILENT,NM_007027.3:p.Leu1360Leu/c.4078C>T,Ctg/Ttg,LOW,COSM4002470(2),0.682109,0.626,rs1444601,,,,,,chr3,133329943,133329943,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1360Leu/c.4078C>T|1522|TOPBP1|protein_coding|CODING|NM_007027.3|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.634,0.7465,0.75,0.78,0.73,,,,,,,,,,,,,,,,
missense_variant,TOPBP1,MISSENSE,NM_007027.3:p.Asn1042Ser/c.3125A>G,aAt/aGt,MODERATE,COSM3723928(1),0.187899,0.0258,rs10935070,0.8(T),"0.0,0.0(B,B)",0.205(N),-0.9176(T),,chr3,133341988,133341988,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn1042Ser/c.3125A>G|1522|TOPBP1|protein_coding|CODING|NM_007027.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3395,0.2997,0.3588,0.24,0.06,0.33,,0.972048(N),1.000(P),2.78(T),0.0000(T),0.002,-0.377961,5.82,-9.36,-0.250000,-2.029000,-2.948000,0.004000,0.000000,0.000000,20.6666
missense_variant,TOPBP1,MISSENSE,NM_007027.3:p.Lys457Gln/c.1369A>C,Aag/Cag,MODERATE,,0.695887,0.625,rs3192149,0.71(T),0.0(B),-1.59(N),-1.0290(T),,chr3,133368362,133368362,T,G,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys457Gln/c.1369A>C|1522|TOPBP1|protein_coding|CODING|NM_007027.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.6398,0.7724,0.77,0.79,0.77,,0.044697(N),1.000(P),2.75(T),0.0000(T),0.023,-0.224167,5.72,4.84,-0.127000,0.777000,3.153000,0.784000,0.921000,0.993000,15.3445
synonymous_variant,TF,SILENT,NM_001063.3:p.Ser208Ser/c.624G>A,tcG/tcA,LOW,COSM3759769(2),0.311302,0.4454,rs12769,,,,,,chr3,133474328,133474328,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser208Ser/c.624G>A|698|TF|protein_coding|CODING|NM_001063.3|5|1),"GM06990:H3K27me3,HepG2:PolII,HSMM:DNase1,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4192,0.3775,0.3211,0.26,0.13,0.32,,,,,,,,,,,,,,,,
missense_variant,TF,MISSENSE,NM_001063.3:p.Ile448Val/c.1342A>G,Ata/Gta,MODERATE,,0.993211,0.999,rs2692696,1(T),0.0(B),-2.86(N),-0.9593(T),,chr3,133485133,133485133,A,G,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile448Val/c.1342A>G|698|TF|protein_coding|CODING|NM_001063.3|12|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:PolII,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9539,1,1.00,1.00,1.00,,0.000000(N),1.000(P),"2.05,2.05(T,T)",0.0000(T),0.237,-0.844889,4.87,4.87,-0.355000,1.433000,6.836000,0.096000,0.950000,1.000000,12.755
synonymous_variant,TF,SILENT,NM_001063.3:p.Leu524Leu/c.1572G>C,ctG/ctC,LOW,COSM3759770(2),0.21246,0.0714,rs8649,,,,,,chr3,133486958,133486958,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu524Leu/c.1572G>C|698|TF|protein_coding|CODING|NM_001063.3|13|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:PolII,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1513,0.1787,0.2614,0.28,0.31,0.26,,,,,,,,,,,,,,,,
missense_variant,SRPRB,MISSENSE,NM_021203.3:p.Val9Leu/c.25G>C,Gtg/Ctg,MODERATE,COSM3759772(2),0.173123,0.2262,rs1107413,0.21(T),0.0(B),1.04(L),-1.0610(T),,chr3,133524717,133524717,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val9Leu/c.25G>C|271|SRPRB|protein_coding|CODING|NM_021203.3|2|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,H1ESC:Yy1,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HeLa-S3:Nrf1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.1646,0.2363,0.2038,0.20,0.11,0.25,,0.060084(U),1.000(P),"2.54,0.84(T,T)",0.0000(T),0.224,0.124636,4.91,0.767,0.650000,0.256000,-1.023000,0.111000,0.011000,0.000000,6.6806
missense_variant,AMOTL2,MISSENSE,NM_001278683.1:p.Glu789Asp/c.2367G>C,gaG/gaC,MODERATE,,0.808706,0.9246,rs1353776,1(T),"0.001,0.001,0.0(B,B,B)",-1.905(N),-0.8600(T),,chr3,134077470,134077470,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu789Asp/c.2367G>C|837|AMOTL2|protein_coding|CODING|NM_001278683.1|9|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu729Asp/c.2187G>C|777|AMOTL2|protein_coding|CODING|NM_001278685.1|9|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu732Asp/c.2196G>C|780|AMOTL2|protein_coding|CODING|NM_016201.3|9|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K4me1,IMR90:H3K9ac,GM12878:H3K27me3,HSMM:H3K27ac,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K4me1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:CTCF,HSMM:H3K4me1,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.7894,0.7176,0.6074,0.73,0.87,0.66,,0.000001(N),1.000(P),"2.6,2.52,2.53,2.52(T,T,T,T)",0.0000(T),0.014,-0.864124,5.48,-11.0,-1.556000,-3.529000,-2.805000,0.057000,0.000000,0.000000,9.7415
synonymous_variant,CEP63,SILENT,NM_025180.3:p.Cys21Cys/c.63T>C,tgT/tgC,LOW,COSM3759776(1),0.171925,0.2183,rs9827878,,,,,,chr3,134225969,134225969,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys21Cys/c.63T>C|495|CEP63|protein_coding|CODING|NM_001042383.1|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys21Cys/c.63T>C|475|CEP63|protein_coding|CODING|NM_001042384.1|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys21Cys/c.63T>C|541|CEP63|protein_coding|CODING|NM_001042400.1|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys21Cys/c.63T>C|703|CEP63|protein_coding|CODING|NM_025180.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116684.1,,0.2076,0.1153,0.17,0.15,0.13,0.16,,,,,,,,,,,,,,,,
missense_variant,CEP63,MISSENSE,NM_025180.3:p.Ser651Leu/c.1952C>T,tCg/tTg,MODERATE,,0.327077,0.6002,rs1127826,0.33(T),0.002(B),1.155(L),-0.9441(T),,chr3,134278270,134278270,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser651Leu/c.1952C>T|703|CEP63|protein_coding|CODING|NM_025180.3|15|1),splice_region_variant(LOW|||c.1952C>T|703|CEP63|protein_coding|CODING|NM_025180.3|15|1),intron_variant(MODIFIER|||c.1330-1949C>T|495|CEP63|protein_coding|CODING|NM_001042383.1|11|1),intron_variant(MODIFIER|||c.1468-1949C>T|541|CEP63|protein_coding|CODING|NM_001042400.1|12|1),intron_variant(MODIFIER|||c.1329+7416C>T|475|CEP63|protein_coding|CODING|NM_001042384.1|11|1)","GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116680.1,,0.274,0.5288,0.3668,0.27,0.09,0.36,,0.893552(N),0.000(P),"2.24,2.24(T,T)",0.0000(T),0.029,1.975602,5.35,-2.93,-0.142000,-0.737000,0.235000,0.950000,0.840000,0.998000,6.7487
synonymous_variant,KY,SILENT,NM_178554.4:p.Leu555Leu/c.1665T>C,ctT/ctC,LOW,COSM4157290(1),0.684105,0.8829,rs2293293,,,,,,chr3,134322742,134322742,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu555Leu/c.1665T>C|661|KY|protein_coding|CODING|NM_178554.4|11|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6524,0.7507,0.668,0.61,0.56,0.64,,,,,,,,,,,,,,,,
synonymous_variant,KY,SILENT,NM_178554.4:p.Phe417Phe/c.1251T>C,ttT/ttC,LOW,,0.996006,1,rs4955535,,,,,,chr3,134323156,134323156,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe417Phe/c.1251T>C|661|KY|protein_coding|CODING|NM_178554.4|11|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,EPHB1,SILENT,NM_004441.4:p.Ser145Ser/c.435C>T,agC/agT,LOW,COSM3759781(2),0.48143,0.2123,rs7644369,,,,,,chr3,134670524,134670524,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser145Ser/c.435C>T|984|EPHB1|protein_coding|CODING|NM_004441.4|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3",,,,0.5286,0.5692,0.4394,0.49,0.58,0.45,,,,,,,,,,,,,,,,
synonymous_variant,EPHB1,SILENT,NM_004441.4:p.Tyr600Tyr/c.1800C>T,taC/taT,LOW,,0.537939,0.7282,rs1042787,,,,,,chr3,134898742,134898742,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr600Tyr/c.1800C>T|984|EPHB1|protein_coding|CODING|NM_004441.4|10|1),GM12878:H3K36me3,,,,0.5603,0.5,0.3797,0.42,0.48,0.39,,,,,,,,,,,,,,,,
missense_variant,PPP2R3A,MISSENSE,NM_002718.4:p.Asp67Gly/c.200A>G,gAt/gGt,MODERATE,COSM3736307(1),0.142372,0.0268,rs9814557,0.05(D),0.026(B),1.245(L),-0.9484(T),,chr3,135720540,135720540,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp67Gly/c.200A>G|1150|PPP2R3A|protein_coding|CODING|NM_002718.4|2|1),intron_variant(MODIFIER|||c.-213-25134A>G|414|PPP2R3A|protein_coding|CODING|NM_001190447.1|1|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2423,0.1369,0.2773,0.24,0.10,0.31,,0.007608(N),1.000(P),2.51(T),0.0000(T),0.124,1.011458,5.79,3.3,0.523000,1.032000,3.716000,0.980000,0.534000,1.000000,8.4145
synonymous_variant,PPP2R3A,SILENT,NM_002718.4:p.Asp111Asp/c.333T>C,gaT/gaC,LOW,,0.186901,0.0288,rs9872542,,,,,,chr3,135720673,135720673,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp111Asp/c.333T>C|1150|PPP2R3A|protein_coding|CODING|NM_002718.4|2|1),intron_variant(MODIFIER|||c.-213-25001T>C|414|PPP2R3A|protein_coding|CODING|NM_001190447.1|1|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2648,0.1455,0.2783,0.28,0.22,0.32,,,,,,,,,,,,,,,,
missense_variant,PPP2R3A,MISSENSE,NM_002718.4:p.Pro481Ala/c.1441C>G,Cct/Gct,MODERATE,,0.0309505,0.005,rs34901937,0.14(T),0.0(B),1.355(L),-0.9628(T),,chr3,135721781,135721781,C,G,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro481Ala/c.1441C>G|1150|PPP2R3A|protein_coding|CODING|NM_002718.4|2|1),intron_variant(MODIFIER|||c.-213-23893C>G|414|PPP2R3A|protein_coding|CODING|NM_001190447.1|1|1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0419,0.036,0.0646,0.06,0.02,0.07,,0.567898(N),1.000(N),3.39(T),0.0013(T),0.025,-0.720893,5.42,-0.668,-0.345000,0.010000,-0.238000,0.829000,0.002000,0.000000,5.0497
missense_variant,PPP2R3A,MISSENSE,NM_002718.4:p.Ser642Gly/c.1924A>G,Agt/Ggt,MODERATE,COSM3736308(1),0.172724,0.0288,rs17197552,0.13(T),0.001(B),0.695(N),-0.9102(T),,chr3,135722264,135722264,A,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser642Gly/c.1924A>G|1150|PPP2R3A|protein_coding|CODING|NM_002718.4|2|1),intron_variant(MODIFIER|||c.-213-23410A>G|414|PPP2R3A|protein_coding|CODING|NM_001190447.1|1|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2648,0.1412,0.2783,0.27,0.17,0.31,,0.178150(N),0.000(P),3.33(T),0.0000(T),0.028,1.010279,5.83,3.47,0.460000,0.481000,1.520000,0.962000,0.996000,0.878000,8.2194
synonymous_variant,SLC35G2,SILENT,NM_001097599.1:p.Gly46Gly/c.138A>G,ggA/ggG,LOW,COSM4157300(1),0.704872,0.8502,rs9827648,,,,,,chr3,136573440,136573440,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly46Gly/c.138A>G|412|SLC35G2|protein_coding|CODING|NM_001097599.1|2|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly46Gly/c.138A>G|412|SLC35G2|protein_coding|CODING|NM_001097600.1|2|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly46Gly/c.138A>G|412|SLC35G2|protein_coding|CODING|NM_025246.2|2|1),intron_variant(MODIFIER|||n.403+3920T>C||NCK1-AS1||NON_CODING|NR_110175.1|2|1),intron_variant(MODIFIER|||n.449+7017T>C||NCK1-AS1||NON_CODING|NR_110176.1|1|1),intron_variant(MODIFIER|||n.317+7149T>C||NCK1-AS1||NON_CODING|NR_110177.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7444,0.7651,0.6551,0.67,0.61,0.70,,,,,,,,,,,,,,,,
missense_variant,SLC35G2,MISSENSE,NM_001097599.1:p.Lys400Arg/c.1199A>G,aAg/aGg,MODERATE,,0.712859,0.8502,rs1052618,1(T),0.0(B),-0.895(N),-0.9801(T),,chr3,136574501,136574501,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys400Arg/c.1199A>G|412|SLC35G2|protein_coding|CODING|NM_001097599.1|2|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys400Arg/c.1199A>G|412|SLC35G2|protein_coding|CODING|NM_001097600.1|2|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys400Arg/c.1199A>G|412|SLC35G2|protein_coding|CODING|NM_025246.2|2|1),intron_variant(MODIFIER|||n.403+2859T>C||NCK1-AS1||NON_CODING|NR_110175.1|2|1),intron_variant(MODIFIER|||n.449+5956T>C||NCK1-AS1||NON_CODING|NR_110176.1|1|1),intron_variant(MODIFIER|||n.317+6088T>C||NCK1-AS1||NON_CODING|NR_110177.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7444,0.7695,0.6561,0.67,0.63,0.70,,0.000070(N),1.000(P),"2.15,2.15(T,T)",0.0000(T),0.033,0.037933,5.79,5.79,-0.320000,1.480000,5.396000,0.940000,1.000000,1.000000,13.8542
missense_variant,CLDN18,MISSENSE,NM_001002026.2:p.Met149Leu/c.445A>T,Atg/Ttg,MODERATE,,0.086861,0.0288,rs17204075,0(D),"0.192,0.284(B,B)",1.52(L),-0.7344(T),,chr3,137743508,137743508,A,T,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met149Leu/c.445A>T|261|CLDN18|protein_coding|CODING|NM_001002026.2|3|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met149Leu/c.445A>T|261|CLDN18|protein_coding|CODING|NM_016369.3|3|1)",IMR90:H3K36me3,,,,0.1063,0.1037,0.1312,0.11,0.08,0.12,,0.000007(D),0.000(P),"-2.37,-2.37(D,D)",0.0108(T),0.379,2.599308,5.17,5.17,0.533000,2.178000,4.791000,0.998000,1.000000,1.000000,15.1756
synonymous_variant,CLDN18,SILENT,NM_001002026.2:p.Ser214Ser/c.642A>G,tcA/tcG,LOW,,0.107827,0.0288,rs16847742,,,,,,chr3,137749839,137749839,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser214Ser/c.642A>G|261|CLDN18|protein_coding|CODING|NM_001002026.2|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser214Ser/c.642A>G|261|CLDN18|protein_coding|CODING|NM_016369.3|5|1)",IMR90:H3K36me3,,,,0.1063,0.1138,0.1312,0.13,0.15,0.13,,,,,,,,,,,,,,,,
synonymous_variant,DZIP1L,SILENT,NM_173543.2:p.Leu732Leu/c.2194C>T,Ctg/Ttg,LOW,,0.000399361,0,rs149714506,,,,,,chr3,137781768,137781768,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu732Leu/c.2194C>T|767|DZIP1L|protein_coding|CODING|NM_173543.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0,0.0014,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,DZIP1L,MISSENSE,NM_173543.2:p.Lys645Glu/c.1933A>G,Aag/Gag,MODERATE,,0.553115,0.6141,rs442800,0.42(T),0.0(B),-1.155(N),-0.9969(T),,chr3,137786442,137786442,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys645Glu/c.1933A>G|767|DZIP1L|protein_coding|CODING|NM_173543.2|14|1),downstream_gene_variant(MODIFIER||1383||539|DZIP1L|protein_coding|CODING|NM_001170538.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6483,0.6902,0.6928,0.59,0.36,0.71,,0.922141(N),1.000(P),0.97(T),0.0000(T),0.2,-1.010063,4.45,1.64,-0.215000,-0.081000,-0.239000,0.001000,0.000000,0.000000,5.7096
missense_variant,DZIP1L,MISSENSE,NM_173543.2:p.Arg593His/c.1778G>A,cGc/cAc,MODERATE,COSM1566241(4),0.628794,0.626,rs374045,0.3(T),0.007(B),1.43(L),-1.0225(T),,chr3,137787047,137787047,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg593His/c.1778G>A|767|DZIP1L|protein_coding|CODING|NM_173543.2|13|1),downstream_gene_variant(MODIFIER||778||539|DZIP1L|protein_coding|CODING|NM_001170538.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7198,0.7767,0.8608,0.72,0.44,0.87,,0.592824(N),1.000(P),1.12(T),0.0000(T),0.031,1.673457,4.91,2.16,0.650000,0.268000,0.080000,0.043000,0.002000,0.001000,6.6861
missense_variant,DZIP1L,MISSENSE,NM_173543.2:p.Thr545Ala/c.1633A>G,Aca/Gca,MODERATE,,0.628794,0.626,rs446644,0.7(T),0.011(B),0.69(N),-0.9945(T),,chr3,137787192,137787192,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr545Ala/c.1633A>G|767|DZIP1L|protein_coding|CODING|NM_173543.2|13|1),downstream_gene_variant(MODIFIER||633||539|DZIP1L|protein_coding|CODING|NM_001170538.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7198,0.7767,0.8608,0.72,0.44,0.87,,0.290463(N),1.000(P),1.04(T),0.0000(T),0.009,0.841212,4.91,-0.849,0.528000,-0.383000,-1.127000,0.006000,0.000000,0.000000,3.4686
missense_variant,DZIP1L,MISSENSE,NM_173543.2:p.Arg321Trp/c.961C>T,Cgg/Tgg,MODERATE,,0.536941,0.6131,rs2724693,0.02(D),"0.533,0.446(P,B)",0(N),-1.0365(T),,chr3,137807259,137807259,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg321Trp/c.961C>T|539|DZIP1L|protein_coding|CODING|NM_001170538.1|7|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg321Trp/c.961C>T|767|DZIP1L|protein_coding|CODING|NM_173543.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6697,0.6859,0.6869,0.57,0.29,0.71,,0.440182(N),1.000(P),"0.83,0.83(T,T)",0.0000(T),0.125,1.835476,5.33,3.29,0.655000,1.206000,0.994000,0.002000,0.113000,0.574000,6.8846
stop_retained_variant,A4GNT,SILENT,NM_016161.2:p.Ter341Ter/c.1023A>G,taA/taG,LOW,,0.654153,0.6389,rs2170309,,,,,,chr3,137843106,137843106,T,C,hom,stop_retained_variant(LOW|SILENT|taA/taG|p.Ter341Ter/c.1023A>G|340|A4GNT|protein_coding|CODING|NM_016161.2|3|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.6237,0.7233,0.672,0.66,0.64,0.67,,,,,,,,,,,,,,,,
missense_variant,A4GNT,MISSENSE,NM_016161.2:p.Ala218Asp/c.653C>A,gCc/gAc,MODERATE,,0.653754,0.6389,rs2246945,0.82(T),0.002(B),0.58(N),-0.9562(T),,chr3,137843476,137843476,G,T,hom,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala218Asp/c.653C>A|340|A4GNT|protein_coding|CODING|NM_016161.2|3|1),HepG2:H3K27me3,,,,0.6217,0.7233,0.672,0.66,0.64,0.67,,0.897822(N),1.000(P),-1.2(T),0.0000(T),0.025,-0.761128,5.0,-1.83,-0.362000,-1.055000,-0.385000,0.802000,0.010000,0.000000,10.3806
synonymous_variant,A4GNT,SILENT,NM_016161.2:p.Cys32Cys/c.96T>C,tgT/tgC,LOW,,0.614018,0.5476,rs2724691,,,,,,chr3,137850003,137850003,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys32Cys/c.96T>C|340|A4GNT|protein_coding|CODING|NM_016161.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.5849,0.719,0.662,0.65,0.60,0.67,,,,,,,,,,,,,,,,
synonymous_variant,DBR1,SILENT,NM_016216.3:p.Asp541Asp/c.1623C>T,gaC/gaT,LOW,,0.583267,0.5526,rs2622736,,,,,,chr3,137880743,137880743,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp541Asp/c.1623C>T|544|DBR1|protein_coding|CODING|NM_016216.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5992,0.7017,0.6809,0.62,0.49,0.69,,,,,,,,,,,,,,,,
synonymous_variant,DBR1,SILENT,NM_016216.3:p.Thr367Thr/c.1101A>T,acA/acT,LOW,,0.693291,0.5526,rs3732839,,,,,,chr3,137881265,137881265,T,A,hom,synonymous_variant(LOW|SILENT|acA/acT|p.Thr367Thr/c.1101A>T|544|DBR1|protein_coding|CODING|NM_016216.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6503,0.7435,0.6849,0.73,0.80,0.69,,,,,,,,,,,,,,,,
synonymous_variant,NME9,SILENT,NM_178130.2:p.Glu90Glu/c.270G>A,gaG/gaA,LOW,,0.702077,0.8036,rs9289556,,,,-1.0305(T),,chr3,138033181,138033181,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu90Glu/c.270G>A|263|NME9|protein_coding|CODING|NM_178130.2|7|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7249,0.804,0.7048,0.67,0.59,0.71,,,0.009(P),,0.0000(T),.,0.135614,5.4,-0.168,0.591000,0.014000,-0.166000,0.191000,0.067000,0.021000,3.3873
missense_variant,ESYT3,MISSENSE,NM_031913.3:p.Asp430Asn/c.1288G>A,Gac/Aac,MODERATE,COSM3695839(1),0.0121805,0,rs61732466,0.43(T),0.001(B),0.63(N),-1.0900(T),,chr3,138187016,138187016,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp430Asn/c.1288G>A|886|ESYT3|protein_coding|CODING|NM_031913.3|12|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0031,0.0216,0.0408,0.03,0.01,0.04,,0.023910(N),1.000(N),0.97(T),0.0086(T),0.037,-1.184298,4.4,-0.101,0.491000,0.107000,1.749000,0.112000,0.014000,0.953000,0.6488
missense_variant,ESYT3,MISSENSE,NM_031913.3:p.Gly590Arg/c.1768G>A,Ggg/Agg,MODERATE,,0.377995,0.5347,rs10935282,0.54(T),0.035(B),1.61(L),-0.9470(T),,chr3,138191232,138191232,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly590Arg/c.1768G>A|886|ESYT3|protein_coding|CODING|NM_031913.3|18|1),HepG2:H3K36me3,,,,0.4785,0.5447,0.4374,0.34,0.11,0.45,,0.068343(N),0.000(P),-0.51(T),0.0000(T),0.268,1.261640,4.45,4.45,0.462000,2.304000,1.950000,0.972000,1.000000,1.000000,14.6169
synonymous_variant,CEP70,SILENT,NM_024491.3:p.Thr292Thr/c.876G>A,acG/acA,LOW,COSM4157313(2),0.307907,0.0585,rs9878436,,,,,,chr3,138244400,138244400,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr274Thr/c.822G>A|579|CEP70|protein_coding|CODING|NM_001288964.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr272Thr/c.816G>A|577|CEP70|protein_coding|CODING|NM_001288965.1|10|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr292Thr/c.876G>A|554|CEP70|protein_coding|CODING|NM_001288966.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr140Thr/c.420G>A|445|CEP70|protein_coding|CODING|NM_001288967.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr292Thr/c.876G>A|597|CEP70|protein_coding|CODING|NM_024491.3|11|1)",,,,,0.2863,0.2911,0.4483,0.43,0.42,0.44,,,,,,,,,,,,,,,,
synonymous_variant,CEP70,SILENT,NM_024491.3:p.Leu154Leu/c.462A>G,ttA/ttG,LOW,,0.48123,0.5486,rs1673608,,,,,,chr3,138289163,138289163,T,C,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu136Leu/c.408A>G|579|CEP70|protein_coding|CODING|NM_001288964.1|6|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu134Leu/c.402A>G|577|CEP70|protein_coding|CODING|NM_001288965.1|5|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu154Leu/c.462A>G|554|CEP70|protein_coding|CODING|NM_001288966.1|6|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu154Leu/c.462A>G|597|CEP70|protein_coding|CODING|NM_024491.3|6|1),intron_variant(MODIFIER|||c.9+21533A>G|445|CEP70|protein_coding|CODING|NM_001288967.1|2|1)",HepG2:H3K36me3,,,,0.6053,0.6412,0.505,0.44,0.27,0.53,,,,,,,,,,,,,,,,
missense_variant,CEP70,MISSENSE,NM_024491.3:p.Ser135Asn/c.404G>A,aGt/aAt,MODERATE,,0.690695,0.9425,rs1673607,0.83(T),"0.0,0.0,0.0(B,B,B)",-0.915(N),-1.0164(T),,chr3,138289221,138289221,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser117Asn/c.350G>A|579|CEP70|protein_coding|CODING|NM_001288964.1|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser115Asn/c.344G>A|577|CEP70|protein_coding|CODING|NM_001288965.1|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser135Asn/c.404G>A|554|CEP70|protein_coding|CODING|NM_001288966.1|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser135Asn/c.404G>A|597|CEP70|protein_coding|CODING|NM_024491.3|6|1),intron_variant(MODIFIER|||c.9+21475G>A|445|CEP70|protein_coding|CODING|NM_001288967.1|2|1)",HepG2:H3K36me3,,,,0.7147,0.7061,0.5338,0.57,0.60,0.55,,0.158213(N),0.058(P),"1.44,1.44,1.44,1.44,1.44,0.87,0.87,0.88(T,T,T,T,T,T,T,T)",0.0000(T),0.026,-1.047852,4.98,-0.474,-1.017000,-0.140000,0.029000,0.193000,0.989000,0.994000,4.2353
synonymous_variant,FAIM,SILENT,NM_001033030.1:p.Pro21Pro/c.63G>A,ccG/ccA,LOW,,0.70647,0.9802,rs811322,,,,,,chr3,138329862,138329862,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro21Pro/c.63G>A|213|FAIM|protein_coding|CODING|NM_001033030.1|2|1),intron_variant(MODIFIER|||c.-17+2083G>A|201|FAIM|protein_coding|CODING|NM_001033031.1|1|1),intron_variant(MODIFIER|||c.-23+2083G>A|179|FAIM|protein_coding|CODING|NM_001033032.1|1|1),intron_variant(MODIFIER|||c.-23+1874G>A|179|FAIM|protein_coding|CODING|NM_018147.3|1|1)",NHEK:H3K36me3,,,,0.7771,0.7262,0.5567,0.57,0.57,0.57,,,,,,,,,,,,,,,,
synonymous_variant,PRR23A,SILENT,NM_001134659.1:p.Ser118Ser/c.354G>C,tcG/tcC,LOW,COSM1495351(3),0.61222,0.6141,rs11924188,,,,,,chr3,138724757,138724757,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser118Ser/c.354G>C|266|PRR23A|protein_coding|CODING|NM_001134659.1|1|1),,,,,0.7025,0.6066,0.7594,0.69,0.51,0.77,,,,,,,,,,,,,,,,
synonymous_variant,CLSTN2,SILENT,NM_022131.2:p.Gln321Gln/c.963A>G,caA/caG,LOW,,0.847244,0.6528,rs2081803,,,,,,chr3,140167536,140167536,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln321Gln/c.963A>G|955|CLSTN2|protein_coding|CODING|NM_022131.2|6|1),,,,,0.8292,0.8573,0.8648,0.90,0.97,0.86,,,,,,,,,,,,,,,,
synonymous_variant,CLSTN2,SILENT,NM_022131.2:p.Ser761Ser/c.2283C>T,tcC/tcT,LOW,,0.336462,0.1022,rs11714465,,,,,,chr3,140281723,140281723,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser761Ser/c.2283C>T|955|CLSTN2|protein_coding|CODING|NM_022131.2|14|1),,,,,0.4796,0.4957,0.6769,0.52,0.16,0.71,,,,,,,,,,,,,,,,
synonymous_variant,CLSTN2,SILENT,NM_022131.2:p.Val847Val/c.2541C>T,gtC/gtT,LOW,COSM4157316(1),0.373403,0.1032,rs10804675,,,,,,chr3,140282861,140282861,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val847Val/c.2541C>T|955|CLSTN2|protein_coding|CODING|NM_022131.2|16|1),,,,,0.4796,0.5101,0.6769,0.56,0.28,0.71,,,,,,,,,,,,,,,,
missense_variant,TRIM42,MISSENSE,NM_152616.4:p.Lys244Arg/c.731A>G,aAg/aGg,MODERATE,,0.999201,1,rs386606394,0.94(T),0.0(B),-0.14(N),-0.9639(T),,chr3,140401693,140401693,A,G,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys244Arg/c.731A>G|723|TRIM42|protein_coding|CODING|NM_152616.4|2|1),GM12878:H3K36me3,,,,1,0.9971,0.999,1.00,1.00,1.00,,0.376691(N),1.000(P),1.16(T),0.0000(T),0.059,-2.420979,5.2,1.87,-0.974000,0.205000,0.299000,0.008000,0.014000,0.000000,7.8579
missense_variant,TRIM42,MISSENSE,NM_152616.4:p.Val475Met/c.1423G>A,Gtg/Atg,MODERATE,,0.400559,0.3899,rs28594654,0.49(T),0.0(B),-0.345(N),-0.9338(T),,chr3,140406947,140406947,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val475Met/c.1423G>A|723|TRIM42|protein_coding|CODING|NM_152616.4|3|1),,,,,0.3834,0.5058,0.5328,0.49,0.31,0.58,,0.046556(N),1.000(P),1.18(T),0.0000(T),0.049,-1.104067,5.63,1.79,-0.254000,0.488000,0.379000,0.111000,0.926000,0.030000,4.4257
missense_variant,TRIM42,MISSENSE,NM_152616.4:p.Ala579Glu/c.1736C>A,gCa/gAa,MODERATE,,0.402756,0.3899,rs9876490,0.18(T),0.021(B),0.345(N),-0.9152(T),,chr3,140407260,140407260,C,A,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala579Glu/c.1736C>A|723|TRIM42|protein_coding|CODING|NM_152616.4|3|1),,,,,0.3845,0.5072,0.5328,0.49,0.31,0.58,,0.380605(U),1.000(P),1.09(T),0.0000(T),0.225,0.230904,5.52,-1.19,-0.140000,-0.118000,0.208000,0.001000,0.000000,0.000000,5.1633
synonymous_variant,RASA2,SILENT,NM_006506.2:p.Leu720Leu/c.2160G>A,ctG/ctA,LOW,COSM149482(1),0.450479,0.2937,rs295323,,,,,,chr3,141327474,141327474,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu720Leu/c.2160G>A|849|RASA2|protein_coding|CODING|NM_006506.2|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2965,0.4625,0.3797,0.48,0.67,0.39,,,,,,,,,,,,,,,,
missense_variant,XRN1,MISSENSE,NM_019001.4:p.His299Tyr/c.895C>T,Cat/Tat,MODERATE,,0.00638978,0,rs35351308,0.69(T),"0.782,0.709,0.057,0.352,0.191(P,P,B,B,B)",2.195(M),-1.0224(T),,chr3,142141496,142141496,G,A,het,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His299Tyr/c.895C>T|1694|XRN1|protein_coding|CODING|NM_001282857.1|8|1),missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His299Tyr/c.895C>T|459|XRN1|protein_coding|CODING|NM_001282859.1|8|1),missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His299Tyr/c.895C>T|1706|XRN1|protein_coding|CODING|NM_019001.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.002,0.013,0.0209,0.01,0.00,0.01,,0.000000(D),1.000(D),"1.53,1.53(T,T)",0.0798(T),0.483,3.974781,5.69,5.69,0.650000,2.687000,4.268000,0.998000,1.000000,1.000000,19.8337
synonymous_variant,ATR,SILENT,NM_001184.3:p.Gln2625Gln/c.7875G>A,caG/caA,LOW,,0.916334,0.9266,rs1802904,,,,,,chr3,142168331,142168331,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln2625Gln/c.7875G>A|2644|ATR|protein_coding|CODING|NM_001184.3|47|1),upstream_gene_variant(MODIFIER||1427||1694|XRN1|protein_coding|CODING|NM_001282857.1||1),upstream_gene_variant(MODIFIER||1427||459|XRN1|protein_coding|CODING|NM_001282859.1||1),upstream_gene_variant(MODIFIER||1427||1706|XRN1|protein_coding|CODING|NM_019001.4||1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000079601.1,,0.9407,0.8084,0.8658,0.90,0.97,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ATR,SILENT,NM_001184.3:p.Tyr1820Tyr/c.5460T>C,taT/taC,LOW,,0.066893,0.003,rs2227932,,,,,,chr3,142217537,142217537,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1820Tyr/c.5460T>C|2644|ATR|protein_coding|CODING|NM_001184.3|32|1),"NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1554,0.072,0.1272,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,ATR,MISSENSE,NM_001184.3:p.His90Tyr/c.268C>T,Cat/Tat,MODERATE,,0.00239617,0,rs28897763,0.04(D),0.024(B),0(N),-1.0434(T),,chr3,142284987,142284987,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His90Tyr/c.268C>T|2644|ATR|protein_coding|CODING|NM_001184.3|3|1),"NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.0119,0.00,0.00,0.00,,0.034721(N),1.000(N),"1.48,1.48(T,T)",0.0264(T),0.354,2.306301,5.53,3.75,-0.253000,0.708000,4.898000,0.941000,1.000000,1.000000,7.1586
synonymous_variant,PLS1,SILENT,NM_001145319.1:p.Pro376Pro/c.1128G>A,ccG/ccA,LOW,COSM149488(2),0.615815,0.3988,rs6793735,,,,,,chr3,142408606,142408606,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro376Pro/c.1128G>A|629|PLS1|protein_coding|CODING|NM_001145319.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro376Pro/c.1128G>A|629|PLS1|protein_coding|CODING|NM_001172312.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro376Pro/c.1128G>A|629|PLS1|protein_coding|CODING|NM_002670.2|10|1)",HepG2:H3K36me3,,,,0.4622,0.4669,0.6551,0.73,0.89,0.65,,,,,,,,,,,,,,,,
synonymous_variant,PLSCR2,SILENT,NM_001199978.1:p.Gln32Gln/c.96G>A,caG/caA,LOW,COSM3846454(1),0.527556,0.6062,rs6806535,,,,,,chr3,146177815,146177815,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln32Gln/c.96G>A|297|PLSCR2|protein_coding|CODING|NM_001199978.1|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln28Gln/c.84G>A|293|PLSCR2|protein_coding|CODING|NM_001199979.1|2|1),5_prime_UTR_variant(MODIFIER||124|c.-124G>A|224|PLSCR2|protein_coding|CODING|NM_020359.2|3|1)",,,,,0.726,0.5865,0.5636,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLSCR1,SILENT,NM_021105.2:p.Gln280Gln/c.840G>A,caG/caA,LOW,,0.0628994,0.0635,rs61737861,,,,-1.0330(T),,chr3,146234853,146234853,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln280Gln/c.840G>A|318|PLSCR1|protein_coding|CODING|NM_021105.2|8|1),"HSMM:H3K36me3,HepG2:H3K36me3",,,,0.1319,0.0461,0.0686,0.05,0.02,0.07,,,0.000(P),,0.0077(T),.,0.880097,4.84,0.842,-0.263000,-0.066000,-0.064000,0.988000,0.993000,0.683000,6.7047
missense_variant,CPA3,MISSENSE,NM_001870.2:p.Thr171Met/c.512C>T,aCg/aTg,MODERATE,,0.969249,0.9494,rs12489516,0.55(T),0.0(B),-2.815(N),-0.9487(T),,chr3,148597612,148597612,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr171Met/c.512C>T|417|CPA3|protein_coding|CODING|NM_001870.2|6|1),,,,,0.9673,0.9611,0.9592,0.97,0.99,0.95,,0.000000(N),1.000(P),1.65(T),0.0000(T),0.093,0.852937,4.77,4.77,-0.352000,0.941000,4.741000,0.856000,1.000000,1.000000,9.9337
synonymous_variant,HLTF,SILENT,NM_003071.3:p.Thr303Thr/c.909G>A,acG/acA,LOW,COSM1130320(1),0.742412,0.7113,rs812249,,,,,,chr3,148786108,148786108,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr303Thr/c.909G>A|1009|HLTF|protein_coding|CODING|NM_003071.3|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr303Thr/c.909G>A|1009|HLTF|protein_coding|CODING|NM_139048.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5562,0.8055,0.7425,0.75,0.83,0.71,,,,,,,,,,,,,,,,
missense_variant,CP,MISSENSE,NM_000096.3:p.Glu544Asp/c.1632A>T,gaA/gaT,MODERATE,,0.86222,0.999,rs386488236,1(T),,,-0.9393(T),,chr3,148916235,148916235,T,A,het,"missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu544Asp/c.1632A>T|1065|CP|protein_coding|CODING|NM_000096.3|9|1),non_coding_exon_variant(MODIFIER|||n.1885A>T||CP||CODING|NR_046371.1|9|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:H4K5ac,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.8712,0.9553,0.9423,0.86,0.70,0.94,,0.000002(N),1.000(P),"-4.94,-4.94(D,D)",0.0000(T),0.079,0.182501,5.46,-2.48,-1.074000,-0.803000,-0.080000,0.972000,0.965000,0.634000,6.9441
synonymous_variant,TM4SF1,SILENT,NM_014220.2:p.Thr135Thr/c.405T>C,acT/acC,LOW,,0.89357,0.8641,rs386515994,,,,,,chr3,149093238,149093238,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr135Thr/c.405T>C|202|TM4SF1|protein_coding|CODING|NM_014220.2|3|1),"HepG2:H3K4me2,HeLa-S3:H3K79me2,IMR90:H3K9ac,HUVEC:H3K4me3,NHEK:PolII,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K36me3,HepG2:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:H3K27me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.8701,0.9193,0.837,0.89,0.95,0.86,,,,,,,,,,,,,,,,
missense_variant,TM4SF4,MISSENSE,NM_004617.3:p.Gly5Asp/c.14G>A,gGc/gAc,MODERATE,,0.000599042,0.003,rs191665412,0.28(T),0.018(B),1.6(L),-1.0432(T),,chr3,149192678,149192678,G,A,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly5Asp/c.14G>A|202|TM4SF4|protein_coding|CODING|NM_004617.3|1|1),HSMM:H3K27ac,,,,0,0,0,0.00,0.00,0.00,,0.124339(N),1.000(N),"1.48,1.48(T,T)",0.0689(T),0.175,0.989698,5.08,3.25,0.561000,1.270000,1.387000,0.514000,0.103000,0.010000,12.2792
synonymous_variant,TM4SF4,SILENT,NM_004617.3:p.Cys83Cys/c.249T>C,tgT/tgC,LOW,,0.229034,0.0704,rs1802837,,,,,,chr3,149193684,149193684,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys83Cys/c.249T>C|202|TM4SF4|protein_coding|CODING|NM_004617.3|2|1),,,,,0.1667,0.3026,0.3966,0.37,0.26,0.42,,,,,,,,,,,,,,,,
synonymous_variant,TM4SF4,SILENT,NM_004617.3:p.Cys174Cys/c.522C>T,tgC/tgT,LOW,COSM4002485(1),0.192692,0.4216,rs9799030,,,,,,chr3,149216629,149216629,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys174Cys/c.522C>T|202|TM4SF4|protein_coding|CODING|NM_004617.3|4|1),,,,,0.3517,0.1455,0.0686,0.05,0.04,0.06,,,,,,,,,,,,,,,,
synonymous_variant,COMMD2,SILENT,NM_016094.3:p.Asn189Asn/c.567T>C,aaT/aaC,LOW,,0.779752,0.8165,rs7633238,,,,,,chr3,149459341,149459341,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn189Asn/c.567T>C|199|COMMD2|protein_coding|CODING|NM_016094.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7229,0.6037,0.673,0.77,0.92,0.69,,,,,,,,,,,,,,,,
synonymous_variant,COMMD2,SILENT,NM_016094.3:p.Leu165Leu/c.495G>A,ctG/ctA,LOW,,0.280351,0.2609,rs11549572,,,,,,chr3,149459413,149459413,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu165Leu/c.495G>A|199|COMMD2|protein_coding|CODING|NM_016094.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1656,0.1354,0.0785,0.23,0.52,0.08,,,,,,,,,,,,,,,,
missense_variant,COMMD2,MISSENSE,NM_016094.3:p.Ile113Leu/c.337A>C,Att/Ctt,MODERATE,COSM3759825(1),0.239018,0.25,rs9843784,0.31(T),0.011(B),1.475(L),-0.9127(T),,chr3,149468530,149468530,T,G,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile113Leu/c.337A>C|199|COMMD2|protein_coding|CODING|NM_016094.3|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2955,0.268,0.4085,0.32,0.11,0.42,,0.000009(D),0.017(P),3.07(T),0.0000(T),0.141,2.662649,5.36,2.7,0.528000,0.927000,2.382000,0.834000,0.816000,0.997000,11.8066
synonymous_variant,ANKUB1,SILENT,NM_001144960.1:p.Ala535Ala/c.1605G>A,gcG/gcA,LOW,COSM1136955(5),0.520567,0.5139,rs386623351,,,,,,chr3,149479301,149479301,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala535Ala/c.1605G>A|544|ANKUB1|protein_coding|CODING|NM_001144960.1|6|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.4611,0.402,0.4911,,,,,,,,,,,,,,,,,,,
missense_variant,ANKUB1,MISSENSE,NM_001144960.1:p.Ser386Gly/c.1156A>G,Agc/Ggc,MODERATE,COSM3759826(1),0.264776,0.247,rs7610425,0.39(T),"0.003,0.003(B,B)",0(N),-0.8973(T),,chr3,149485293,149485293,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser386Gly/c.1156A>G|544|ANKUB1|protein_coding|CODING|NM_001144960.1|5|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2843,0.2579,0.3907,0.34,0.21,0.40,,,1.000(P),"1.86,1.83,1.86(T,T,T)",0.0000(T),0.065,1.607832,5.6,-1.11,-0.353000,-0.423000,1.012000,0.001000,0.000000,0.001000,6.0018
synonymous_variant,ANKUB1,SILENT,NM_001144960.1:p.Ala216Ala/c.648G>A,gcG/gcA,LOW,,0.00179712,0,rs185039468,,,,,,chr3,149485801,149485801,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala216Ala/c.648G>A|544|ANKUB1|protein_coding|CODING|NM_001144960.1|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.001,0.0043,0.005,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ANKUB1,SILENT,NM_001144960.1:p.Asp157Asp/c.471T>C,gaT/gaC,LOW,COSM3759827(1),0.328474,0.0248,rs7630153,,,,,,chr3,149488442,149488442,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp157Asp/c.471T>C|544|ANKUB1|protein_coding|CODING|NM_001144960.1|4|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2301,0.3573,0.2922,0.39,0.59,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RNF13,SILENT,NM_007282.4:p.His263His/c.789C>T,caC/caT,LOW,COSM3759828(1),0.66873,0.8661,rs6768054,,,,,,chr3,149678534,149678534,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His263His/c.789C>T|381|RNF13|protein_coding|CODING|NM_007282.4|11|1),synonymous_variant(LOW|SILENT|caC/caT|p.His263His/c.789C>T|381|RNF13|protein_coding|CODING|NM_183381.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6871,0.7176,0.7068,0.61,0.47,0.69,,,,,,,,,,,,,,,,
synonymous_variant,ERICH6,SILENT,NM_152394.3:p.Asp89Asp/c.267C>T,gaC/gaT,LOW,COSM1180124(1),0.323083,0.3591,rs17281287,,,,,,chr3,150421419,150421419,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp89Asp/c.267C>T|663|ERICH6|protein_coding|CODING|NM_152394.3|1|1),upstream_gene_variant(MODIFIER||343|||ERICH6-AS1||NON_CODING|NR_121674.1||1),non_coding_exon_variant(MODIFIER|||n.69G>A||ERICH6-AS1||NON_CODING|NR_121675.1|1|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,HepG2:H3K27ac,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,K562:Znf263,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,IMR90:H4K8ac",,,,0.1871,0.4597,0.4632,0.40,0.26,0.48,,,,,,,,,,,,,,,,
synonymous_variant,GPR87,SILENT,NM_023915.3:p.Tyr355Tyr/c.1065C>T,taC/taT,LOW,COSM3759829(1),0.495607,0.5139,rs1048408,,,,,,chr3,151011969,151011969,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr355Tyr/c.1065C>T|358|GPR87|protein_coding|CODING|NM_023915.3|3|1),intron_variant(MODIFIER|||c.2146-55878G>A|2145|MED12L|protein_coding|CODING|NM_053002.4|14|1)","HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.5102,0.5692,0.4642,0.46,0.44,0.47,,,,,,,,,,,,,,,,
synonymous_variant,GPR87,SILENT,NM_023915.3:p.Leu179Leu/c.537A>G,ctA/ctG,LOW,,0.802915,0.7212,rs2242353,,,,,,chr3,151012497,151012497,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu179Leu/c.537A>G|358|GPR87|protein_coding|CODING|NM_023915.3|3|1),intron_variant(MODIFIER|||c.2146-55350T>C|2145|MED12L|protein_coding|CODING|NM_053002.4|14|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HSMM:H3K27me3",,,,0.7883,0.8559,0.7793,0.80,0.84,0.78,,,,,,,,,,,,,,,,
missense_variant,P2RY13,MISSENSE,NM_176894.2:p.Thr179Met/c.536C>T,aCg/aTg,MODERATE,,0.895168,0.8472,rs1466684,1(T),0.0(B),-1.54(N),-0.9503(T),,chr3,151046308,151046308,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr179Met/c.536C>T|354|P2RY13|protein_coding|CODING|NM_176894.2|2|1),intron_variant(MODIFIER|||c.2146-21539G>A|2145|MED12L|protein_coding|CODING|NM_053002.4|14|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K27me3",,,,0.9008,0.9092,0.827,0.87,0.95,0.83,,0.000080(N),0.000(P),1.15(T),0.0000(T),0.035,-1.294707,5.45,4.28,-0.368000,0.374000,5.052000,0.363000,0.319000,0.906000,10.0802
synonymous_variant,P2RY12,SILENT,NM_022788.4:p.Gly12Gly/c.36T>G,ggT/ggG,LOW,,0.911542,0.8988,rs6809699,,,,,,chr3,151056598,151056598,A,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly12Gly/c.36T>G|342|P2RY12|protein_coding|CODING|NM_022788.4|3|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly12Gly/c.36T>G|342|P2RY12|protein_coding|CODING|NM_176876.2|2|1),intron_variant(MODIFIER|||c.2146-11249A>C|2145|MED12L|protein_coding|CODING|NM_053002.4|14|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.8967,0.915,0.829,0.88,0.96,0.84,,,,,,,,,,,,,,,,
synonymous_variant,P2RY12,SILENT,NM_022788.4:p.Asn6Asn/c.18C>T,aaC/aaT,LOW,,0.241813,0.2113,rs386491364,,,,,,chr3,151056616,151056616,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn6Asn/c.18C>T|342|P2RY12|protein_coding|CODING|NM_022788.4|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn6Asn/c.18C>T|342|P2RY12|protein_coding|CODING|NM_176876.2|2|1),intron_variant(MODIFIER|||c.2146-11231G>A|2145|MED12L|protein_coding|CODING|NM_053002.4|14|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.273,0.2781,0.3151,0.27,0.19,0.32,,,,,,,,,,,,,,,,
synonymous_variant,MED12L,SILENT,NM_053002.4:p.Ser1876Ser/c.5628G>A,tcG/tcA,LOW,COSM3759830(1),0.298922,0.2778,rs3732768,,,,,,chr3,151112568,151112568,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1876Ser/c.5628G>A|2145|MED12L|protein_coding|CODING|NM_053002.4|37|1),"HUVEC:H3K27me3,H1ESC:DNase1",,,,0.3763,0.2233,0.2028,0.26,0.35,0.21,,,,,,,,,,,,,,,,
synonymous_variant,IGSF10,SILENT,NM_178822.4:p.Thr2561Thr/c.7683A>G,acA/acG,LOW,,0.851438,0.8988,rs2172250,,,,,,chr3,151154666,151154666,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr588Thr/c.1764A>G|650|IGSF10|protein_coding|CODING|NM_001178145.1|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr540Thr/c.1620A>G|602|IGSF10|protein_coding|CODING|NM_001178146.1|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr2561Thr/c.7683A>G|2623|IGSF10|protein_coding|CODING|NM_178822.4|6|1),downstream_gene_variant(MODIFIER||201||2145|MED12L|protein_coding|CODING|NM_053002.4||1)",,,,,0.8098,0.8285,0.8539,0.85,0.84,0.85,,,,,,,,,,,,,,,,
synonymous_variant,IGSF10,SILENT,NM_178822.4:p.Asn2243Asn/c.6729C>T,aaC/aaT,LOW,,0.591853,0.5169,rs6781302,,,,,,chr3,151155620,151155620,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn270Asn/c.810C>T|650|IGSF10|protein_coding|CODING|NM_001178145.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn222Asn/c.666C>T|602|IGSF10|protein_coding|CODING|NM_001178146.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2243Asn/c.6729C>T|2623|IGSF10|protein_coding|CODING|NM_178822.4|6|1),downstream_gene_variant(MODIFIER||1155||2145|MED12L|protein_coding|CODING|NM_053002.4||1)",,,,,0.6207,0.5937,0.7565,0.68,0.53,0.76,,,,,,,,,,,,,,,,
synonymous_variant,IGSF10,SILENT,NM_178822.4:p.Gln697Gln/c.2091A>G,caA/caG,LOW,COSM3759832(1),0.786342,0.7649,rs9871952,,,,,,chr3,151165678,151165678,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln697Gln/c.2091A>G|2623|IGSF10|protein_coding|CODING|NM_178822.4|4|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7914,0.7695,0.7724,0.78,0.81,0.76,,,,,,,,,,,,,,,,
synonymous_variant,IGSF10,SILENT,NM_178822.4:p.Gln449Gln/c.1347G>A,caG/caA,LOW,COSM3759833(3),0.710663,0.7401,rs6798252,,,,,,chr3,151166422,151166422,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln449Gln/c.1347G>A|2623|IGSF10|protein_coding|CODING|NM_178822.4|4|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.6626,0.7089,0.7356,0.72,0.70,0.72,,,,,,,,,,,,,,,,
missense_variant,IGSF10,MISSENSE,NM_178822.4:p.Tyr150Asp/c.448T>G,Tat/Gat,MODERATE,COSM3759835(2),0.727835,0.745,rs7619322,0.27(T),0.768(P),-0.46(N),-0.9146(T),,chr3,151171439,151171439,A,C,het,missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr150Asp/c.448T>G|2623|IGSF10|protein_coding|CODING|NM_178822.4|3|1),HUVEC:H3K27me3,,,,0.7607,0.7075,0.7435,0.71,0.69,0.73,,0.482074(N),0.193(P),0.7(T),0.0000(T),0.309,2.936281,5.53,-2.47,0.528000,-0.442000,2.414000,0.939000,0.026000,1.000000,0.6669
synonymous_variant,IGSF10,SILENT,NM_178822.4:p.Asn115Asn/c.345T>C,aaT/aaC,LOW,COSM3722149(2),0.811701,0.7649,rs386612029,,,,,,chr3,151171542,151171542,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn115Asn/c.345T>C|2623|IGSF10|protein_coding|CODING|NM_178822.4|3|1),HUVEC:H3K27me3,,,,0.8139,0.781,0.7714,0.80,0.86,0.77,,,,,,,,,,,,,,,,
missense_variant,AADACL2,MISSENSE,NM_207365.3:p.Ala186Ser/c.556G>T,Gcg/Tcg,MODERATE,,0.706669,0.624,rs1972977,1(T),0.006(B),0.635(N),-0.8862(T),,chr3,151463421,151463421,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala186Ser/c.556G>T|401|AADACL2|protein_coding|CODING|NM_207365.3|4|1),intron_variant(MODIFIER|||n.44-74497G>T||MIR548H2||NON_CODING|NR_031678.1|2|1)",,,,,0.7178,0.6455,0.668,0.70,0.80,0.64,,0.024123(N),1.000(P),0.26(T),0.0000(T),0.093,-2.300516,4.58,-3.34,-1.487000,-0.573000,0.113000,0.000000,0.022000,0.235000,18.9711
missense_variant,AADAC,MISSENSE,NM_001086.2:p.Val281Ile/c.841G>A,Gtt/Att,MODERATE,COSM3759837(2),0.734425,0.5774,rs1803155,0.21(T),0.242(B),1.885(L),-1.0380(T),,chr3,151545601,151545601,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val281Ile/c.841G>A|399|AADAC|protein_coding|CODING|NM_001086.2|5|1),intron_variant(MODIFIER|||n.320-53148C>T||AADACL2-AS1||NON_CODING|NR_110202.1|1|1),intron_variant(MODIFIER|||n.320-53148C>T||AADACL2-AS1||NON_CODING|NR_110203.1|1|1)",,,,,0.7975,0.7522,0.7674,0.78,0.76,0.79,,0.000002(N),0.000(P),0.35(T),0.0000(T),0.066,3.183921,4.81,3.94,0.591000,1.006000,3.772000,0.995000,0.856000,1.000000,12.9254
missense_variant,ARHGEF26,MISSENSE,NM_001251962.1:p.Val29Leu/c.85G>C,Gtt/Ctt,MODERATE,COSM4157374(1),0.959265,0.999,rs12493885,1(T),"0.0,0.0(B,B)",-0.695(N),-0.9750(T),,chr3,153839866,153839866,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val29Leu/c.85G>C|871|ARHGEF26|protein_coding|CODING|NM_001251962.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val29Leu/c.85G>C|791|ARHGEF26|protein_coding|CODING|NM_001251963.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val29Leu/c.85G>C|871|ARHGEF26|protein_coding|CODING|NM_015595.3|2|1),upstream_gene_variant(MODIFIER||867|||ARHGEF26-AS1||NON_CODING|NR_037901.1||1)","NHEK:H3K9ac,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9765,0.9424,0.8738,0.90,0.96,0.87,,0.812561(N),1.000(P),"0.54,0.54,2.34(T,T,T)",0.0000(T),0.021,-0.722292,4.49,1.98,-0.216000,0.080000,-0.567000,0.683000,0.869000,0.000000,4.6612
missense_variant,ARHGEF26,MISSENSE,NM_001251962.1:p.Leu60Phe/c.178C>T,Ctc/Ttc,MODERATE,COSM4157376(1),0.618011,0.5407,rs59508481,0.07(T),"0.001,0.001(B,B)",0(N),-0.9358(T),,chr3,153839959,153839959,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu60Phe/c.178C>T|871|ARHGEF26|protein_coding|CODING|NM_001251962.1|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu60Phe/c.178C>T|791|ARHGEF26|protein_coding|CODING|NM_001251963.1|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu60Phe/c.178C>T|871|ARHGEF26|protein_coding|CODING|NM_015595.3|2|1),upstream_gene_variant(MODIFIER||960|||ARHGEF26-AS1||NON_CODING|NR_037901.1||1)","NHEK:H3K9ac,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7577,0.5893,0.7565,0.03,0.01,0.03,,0.182795(N),1.000(P),"0.49,0.49,2.28(T,T,T)",0.0000(T),0.026,0.934185,4.49,2.57,0.561000,0.837000,0.546000,0.222000,0.002000,0.000000,11.6922
missense_variant,ARHGEF26,MISSENSE,NM_001251962.1:p.Leu60Pro/c.179T>C,cTc/cCc,MODERATE,COSM4157380(1),0.949681,0.9911,rs12497267,0.52(T),"0.0,0.0(B,B)",-0.805(N),-0.9918(T),,chr3,153839960,153839960,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu60Pro/c.179T>C|871|ARHGEF26|protein_coding|CODING|NM_001251962.1|2|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu60Pro/c.179T>C|791|ARHGEF26|protein_coding|CODING|NM_001251963.1|2|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu60Pro/c.179T>C|871|ARHGEF26|protein_coding|CODING|NM_015595.3|2|1),upstream_gene_variant(MODIFIER||961|||ARHGEF26-AS1||NON_CODING|NR_037901.1||1)","NHEK:H3K9ac,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9632,0.9308,0.8648,0.84,0.95,0.79,,0.182795(N),1.000(P),"0.5,0.5,2.29(T,T,T)",0.0000(T),0.042,-2.221097,4.49,3.62,-0.930000,0.346000,0.962000,0.030000,0.001000,0.002000,10.2649
synonymous_variant,PLCH1,SILENT,NM_001130960.1:p.Ser1126Ser/c.3378C>T,agC/agT,LOW,COSM1593422(1),0.00359425,0.001,rs142805530,,,,,,chr3,155200461,155200461,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser1126Ser/c.3378C>T|1693|PLCH1|protein_coding|CODING|NM_001130960.1|23|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser1088Ser/c.3264C>T|1655|PLCH1|protein_coding|CODING|NM_014996.2|22|1),3_prime_UTR_variant(MODIFIER||694|c.*397C>T|1002|PLCH1|protein_coding|CODING|NM_001130961.1|24|1)",H1ESC:H3K36me3,,,,0,0.0115,0.0089,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,PLCH1,SILENT,NM_001130960.1:p.Ser460Ser/c.1380T>C,tcT/tcC,LOW,,0.769768,0.9256,rs9840234,,,,,,chr3,155241740,155241740,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser460Ser/c.1380T>C|1693|PLCH1|protein_coding|CODING|NM_001130960.1|10|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser460Ser/c.1380T>C|1002|PLCH1|protein_coding|CODING|NM_001130961.1|10|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser442Ser/c.1326T>C|1655|PLCH1|protein_coding|CODING|NM_014996.2|10|1)",H1ESC:H3K36me3,,,,0.7883,0.7752,0.6968,0.72,0.71,0.73,,,,,,,,,,,,,,,,
synonymous_variant,PLCH1,SILENT,NM_001130960.1:p.Ser59Ser/c.177T>C,agT/agC,LOW,COSM1130306(1),0.459465,0.2768,rs359569,,,,,,chr3,155314034,155314034,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser59Ser/c.177T>C|1693|PLCH1|protein_coding|CODING|NM_001130960.1|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser59Ser/c.177T>C|1002|PLCH1|protein_coding|CODING|NM_001130961.1|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser41Ser/c.123T>C|1655|PLCH1|protein_coding|CODING|NM_014996.2|2|1)",,,,,0.3722,0.5519,0.7416,0.63,0.47,0.72,,,,,,,,,,,,,,,,
missense_variant,PLCH1,MISSENSE,NM_001130960.1:p.Arg33Cys/c.97C>T,Cgt/Tgt,MODERATE,,0.00339457,0,rs150143990,0.04(D),"0.827,0.676,0.371(P,P,B)",0.895(L),-0.7512(T),,chr3,155314114,155314114,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg33Cys/c.97C>T|1693|PLCH1|protein_coding|CODING|NM_001130960.1|2|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg33Cys/c.97C>T|1002|PLCH1|protein_coding|CODING|NM_001130961.1|2|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg15Cys/c.43C>T|1655|PLCH1|protein_coding|CODING|NM_014996.2|2|1)",,,,,0,0.013,0.008,0.00,0.00,0.00,,0.307593(N),0.994(D),"-0.09,-0.09,-0.09,-0.09,-0.09,-0.09(T,T,T,T,T,T)",0.1780(T),0.39,4.239286,5.42,4.46,0.655000,2.536000,4.485000,0.976000,1.000000,1.000000,7.4872
missense_variant,C3orf33,MISSENSE,NM_173657.1:p.Ser117Asn/c.350G>A,aGt/aAt,MODERATE,,0.841054,0.9117,rs358733,1(T),0.0(B),-1.52(N),-0.9845(T),,chr3,155485302,155485302,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser117Asn/c.350G>A|251|C3orf33|protein_coding|CODING|NM_173657.1|5|1),"CD4:H3K36me3,HepG2:H3K36me3",,,,0.8415,0.8516,0.7714,0.79,0.83,0.78,,0.003188(N),1.000(P),"2.01,2.01(T,T)",0.0000(T),0.011,-0.670850,5.28,4.05,-0.332000,0.847000,2.956000,0.528000,0.998000,1.000000,7.1394
missense_variant,GMPS,MISSENSE,NM_003875.2:p.Tyr528Ser/c.1583A>C,tAc/tCc,MODERATE,COSM3695890(1),0.00239617,0,rs61750370,0(D),"0.918,0.873(D,P)",2.27(M),-0.2357(T),,chr3,155649576,155649576,A,C,het,missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr528Ser/c.1583A>C|693|GMPS|protein_coding|CODING|NM_003875.2|13|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0014,0.0089,0.01,0.00,0.01,,0.000000(D),1.000(D),,0.3280(T),0.927,4.621197,5.55,5.55,0.533000,2.097000,9.146000,0.997000,0.998000,1.000000,14.2701
synonymous_variant,VEPH1,SILENT,NM_001167912.1:p.Asn178Asn/c.534C>T,aaC/aaT,LOW,,0.00199681,0,rs140995851,,,,,,chr3,157146273,157146273,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn178Asn/c.534C>T|788|VEPH1|protein_coding|CODING|NM_001167911.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn178Asn/c.534C>T|833|VEPH1|protein_coding|CODING|NM_001167912.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn178Asn/c.534C>T|833|VEPH1|protein_coding|CODING|NM_024621.2|5|1)",HUVEC:H3K36me3,,,,0,0.0043,0.007,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,PTX3,MISSENSE,NM_002852.3:p.Ala48Asp/c.143C>A,gCc/gAc,MODERATE,,0.714657,0.7569,rs3816527,1(T),0.0(B),-1.935(N),-0.9884(T),,chr3,157155314,157155314,C,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala48Asp/c.143C>A|381|PTX3|protein_coding|CODING|NM_002852.3|2|1),intron_variant(MODIFIER|||c.530-9037G>T|788|VEPH1|protein_coding|CODING|NM_001167911.1|4|1),intron_variant(MODIFIER|||c.530-9037G>T|833|VEPH1|protein_coding|CODING|NM_001167912.1|4|1),intron_variant(MODIFIER|||c.530-9037G>T|833|VEPH1|protein_coding|CODING|NM_024621.2|4|1)","H1ESC:H3K9ac,GM06990:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,NHEK:H3K4me2,HUVEC:H3K27ac,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.7454,0.7176,0.6024,0.63,0.74,0.58,,0.411169(N),0.000(P),3.26(T),0.0000(T),0.043,-0.843373,4.66,3.48,-0.363000,0.166000,3.669000,0.330000,0.998000,1.000000,11.4409
missense_variant,GFM1,MISSENSE,NM_024996.5:p.Asn43Asp/c.127A>G,Aat/Gat,MODERATE,,0.00499201,0,rs35942089,0(D),"0.002,0.002(B,B)",0(N),-0.8143(T),,chr3,158363463,158363463,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn43Asp/c.127A>G|751|GFM1|protein_coding|CODING|NM_024996.5|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0041,0.0072,0.0139,0.01,0.00,0.01,,0.000000(D),1.000(D),"-0.75,-0.75,-0.75(T,T,T)",0.1589(T),0.207,2.539799,5.43,5.43,0.533000,2.045000,8.629000,0.998000,0.990000,1.000000,15.486
synonymous_variant,SI,SILENT,NM_001041.3:p.Thr1767Thr/c.5301G>A,acG/acA,LOW,,0.00119808,0.001,rs150131334,,,,,,chr3,164700145,164700145,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1767Thr/c.5301G>A|1827|SI|protein_coding|CODING|NM_001041.3|47|1),,,,,0.002,0.0043,0,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,SI,MISSENSE,NM_001041.3:p.Met1523Ile/c.4569G>A,atG/atA,MODERATE,,0.909744,0.9355,rs4855271,1(T),0.001(B),-1.43(N),-0.9260(T),,chr3,164714532,164714532,C,T,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met1523Ile/c.4569G>A|1827|SI|protein_coding|CODING|NM_001041.3|39|1),,,,,0.8845,0.8372,0.9344,0.92,0.91,0.93,,0.000001(N),1.000(P),-2.54(D),0.0000(T),0.053,-0.522087,4.77,-6.92,-1.501000,-1.338000,-1.343000,0.940000,0.856000,0.009000,3.3693
missense_variant,SI,MISSENSE,NM_001041.3:p.Arg774Gly/c.2320A>G,Agg/Ggg,MODERATE,,0.000998403,0,rs147207752,0.14(T),0.945(D),0.53(N),-0.4627(T),,chr3,164755794,164755794,T,C,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg774Gly/c.2320A>G|1827|SI|protein_coding|CODING|NM_001041.3|21|1),,,,,0.002,0.0043,0,0.00,0.00,0.00,,0.792486(N),0.981(D),-1.35(T),0.3926(T),0.44,1.908534,5.15,2.7,-0.321000,0.399000,1.768000,0.278000,0.516000,1.000000,11.2906
synonymous_variant,SI,SILENT,NM_001041.3:p.Ala599Ala/c.1797G>T,gcG/gcT,LOW,COSM1130299(1),0.608626,0.8284,rs9838509,,,,,,chr3,164764719,164764719,C,A,hom,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala599Ala/c.1797G>T|1827|SI|protein_coding|CODING|NM_001041.3|16|1),,,,,0.5429,0.6225,0.6282,0.56,0.49,0.60,,,,,,,,,,,,,,,,
synonymous_variant,SI,SILENT,NM_001041.3:p.Asn479Asn/c.1437C>T,aaC/aaT,LOW,COSM4002508(1),0.61901,0.8313,rs9290257,,,,,,chr3,164773057,164773057,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn479Asn/c.1437C>T|1827|SI|protein_coding|CODING|NM_001041.3|13|1),,,,,0.5818,0.6225,0.6312,0.56,0.49,0.60,,,,,,,,,,,,,,,,
missense_variant,SI,MISSENSE,NM_001041.3:p.Thr231Ala/c.691A>G,Acc/Gcc,MODERATE,,0.616014,0.8323,rs9283633,0.12(T),0.008(B),1.665(L),-0.9627(T),,chr3,164783165,164783165,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr231Ala/c.691A>G|1827|SI|protein_coding|CODING|NM_001041.3|7|1),,,,,0.5818,0.621,0.6312,0.56,0.48,0.60,,0.000672(N),0.906(P),-2.23(D),0.0000(T),0.028,1.468408,5.9,1.05,0.528000,0.164000,0.966000,0.347000,0.596000,0.913000,8.956
missense_variant,ZBBX,MISSENSE,NM_001199201.1:p.Ala675Gly/c.2024C>G,gCa/gGa,MODERATE,,,,rs12638625,0.16(T),"0.161,0.077(B,B)",1.67(L),-1.0237(T),,chr3,167000256,167000256,G,C,het,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala675Gly/c.2024C>G|839|ZBBX|protein_coding|CODING|NM_001199201.1|20|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala607Gly/c.1820C>G|771|ZBBX|protein_coding|CODING|NM_001199202.1|19|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala636Gly/c.1907C>G|800|ZBBX|protein_coding|CODING|NM_024687.3|19|1)",,,,,,,,0.29,0.27,0.30,,0.508267(N),1.000(P),"2.68,2.68,2.53,2.53,2.51(T,T,T,T,T)",0.0000(T),0.144,0.370125,5.28,1.47,-0.911000,-0.014000,0.491000,0.003000,0.831000,0.997000,4.4295
missense_variant,ZBBX,MISSENSE,NM_001199201.1:p.Glu555Lys/c.1663G>A,Gaa/Aaa,MODERATE,COSM4157411(1),0.0473243,0,rs35864545,0.27(T),"0.011,0.005(B,B)",0.695(N),-0.9562(T),,chr3,167023493,167023493,C,T,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu555Lys/c.1663G>A|839|ZBBX|protein_coding|CODING|NM_001199201.1|17|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu526Lys/c.1576G>A|771|ZBBX|protein_coding|CODING|NM_001199202.1|17|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu555Lys/c.1663G>A|800|ZBBX|protein_coding|CODING|NM_024687.3|17|1)",HeLa-S3:DNase1,,,,0.0675,0.0677,0.1113,0.09,0.03,0.12,,0.794526(N),1.000(P),"2.96,2.96,2.9,2.9,2.79(T,T,T,T,T)",0.0003(T),0.112,0.862156,5.3,1.23,0.650000,0.710000,0.012000,0.067000,0.655000,0.686000,4.1909
missense_variant,ZBBX,MISSENSE,NM_001199201.1:p.Ile511Thr/c.1532T>C,aTa/aCa,MODERATE,,0.047524,0.001,rs35190925,0.03(D),"0.037,0.024(B,B)",1.735(L),-1.0541(T),,chr3,167023624,167023624,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile511Thr/c.1532T>C|839|ZBBX|protein_coding|CODING|NM_001199201.1|17|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile482Thr/c.1445T>C|771|ZBBX|protein_coding|CODING|NM_001199202.1|17|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile511Thr/c.1532T>C|800|ZBBX|protein_coding|CODING|NM_024687.3|17|1)",,,,,0.0675,0.0677,0.1113,0.09,0.03,0.12,,0.024850(N),1.000(P),"3.05,3.05,3.04,3.04,2.88(T,T,T,T,T)",0.0004(T),0.04,1.986851,5.54,1.61,0.528000,0.477000,0.240000,0.034000,0.005000,0.003000,4.4261
missense_variant,ZBBX,MISSENSE,NM_001199201.1:p.Ala473Gly/c.1418C>G,gCa/gGa,MODERATE,COSM149509(1),0.334665,0.1835,rs13096767,0.2(T),"0.994,0.986(D,D)",1.32(L),-0.8385(T),,chr3,167023738,167023738,G,C,het,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala473Gly/c.1418C>G|839|ZBBX|protein_coding|CODING|NM_001199201.1|17|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala444Gly/c.1331C>G|771|ZBBX|protein_coding|CODING|NM_001199202.1|17|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala473Gly/c.1418C>G|800|ZBBX|protein_coding|CODING|NM_024687.3|17|1),splice_region_variant(LOW|||c.1418C>G|839|ZBBX|protein_coding|CODING|NM_001199201.1|17|1),splice_region_variant(LOW|||c.1331C>G|771|ZBBX|protein_coding|CODING|NM_001199202.1|17|1),splice_region_variant(LOW|||c.1418C>G|800|ZBBX|protein_coding|CODING|NM_024687.3|17|1)",,,,,0.363,0.353,0.4195,0.41,0.38,0.42,,0.036792(N),0.975(P),"2.95,2.95,2.96,2.96,2.78(T,T,T,T,T)",0.0000(T),0.138,0.866911,4.76,4.76,0.650000,2.332000,0.607000,0.046000,0.891000,0.886000,13.6402
synonymous_variant,ZBBX,SILENT,NM_001199201.1:p.Leu391Leu/c.1173A>G,ctA/ctG,LOW,COSM149511(2),0.294529,0.1865,rs13068132,,,,,,chr3,167034814,167034814,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu391Leu/c.1173A>G|839|ZBBX|protein_coding|CODING|NM_001199201.1|14|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu362Leu/c.1086A>G|771|ZBBX|protein_coding|CODING|NM_001199202.1|14|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu391Leu/c.1173A>G|800|ZBBX|protein_coding|CODING|NM_024687.3|14|1)",,,,,0.365,0.3444,0.4105,0.37,0.26,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ZBBX,SILENT,NM_001199201.1:p.Phe192Phe/c.576T>C,ttT/ttC,LOW,,0.460463,0.6637,rs10936530,,,,,,chr3,167051726,167051726,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe192Phe/c.576T>C|839|ZBBX|protein_coding|CODING|NM_001199201.1|10|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe163Phe/c.489T>C|771|ZBBX|protein_coding|CODING|NM_001199202.1|10|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe192Phe/c.576T>C|800|ZBBX|protein_coding|CODING|NM_024687.3|10|1)",,,,,0.3916,0.4395,0.341,0.36,0.43,0.33,,,,,,,,,,,,,,,,
missense_variant,ZBBX,MISSENSE,NM_001199201.1:p.Lys178Arg/c.533A>G,aAa/aGa,MODERATE,,0.25619,0.1786,rs11923054,0.22(T),"0.097,0.02(B,B)",1.845(L),-0.9242(T),,chr3,167051769,167051769,T,C,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys178Arg/c.533A>G|839|ZBBX|protein_coding|CODING|NM_001199201.1|10|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys149Arg/c.446A>G|771|ZBBX|protein_coding|CODING|NM_001199202.1|10|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys178Arg/c.533A>G|800|ZBBX|protein_coding|CODING|NM_024687.3|10|1)",,,,,0.3712,0.3343,0.4115,0.33,0.13,0.43,,0.004322(U),0.984(P),"1.54,1.54,1.54,1.54,1.54(T,T,T,T,T)",0.0000(T),0.05,0.673020,4.79,1.08,-0.256000,0.287000,1.631000,0.382000,0.999000,1.000000,6.8506
missense_variant,ZBBX,MISSENSE,NM_001199201.1:p.Lys160Asn/c.480A>T,aaA/aaT,MODERATE,,0.255192,0.1756,rs4619784,0.01(D),"0.953,0.972(D,D)",1.1(L),-0.9204(T),,chr3,167068256,167068256,T,A,het,"missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys160Asn/c.480A>T|839|ZBBX|protein_coding|CODING|NM_001199201.1|9|1),missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys131Asn/c.393A>T|771|ZBBX|protein_coding|CODING|NM_001199202.1|9|1),missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys160Asn/c.480A>T|800|ZBBX|protein_coding|CODING|NM_024687.3|9|1)","NHEK:CTCF,HeLa-S3:DNase1,HUVEC:CTCF,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,NH-A:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:DNase1,HMEC:DNase1,HepG2:Rad21,H1ESC:Rad21,GM06990:CTCF",,,,0.3671,0.3343,0.4076,0.34,0.13,0.43,,0.088941(U),0.033(P),"1.54,1.54,1.54,1.54,1.54,1.39(T,T,T,T,T,T)",0.0000(T),0.162,4.065775,5.54,5.54,0.377000,2.101000,2.674000,0.824000,1.000000,1.000000,13.6397
synonymous_variant,ZBBX,SILENT,NM_001199201.1:p.Val133Val/c.399A>T,gtA/gtT,LOW,,0.999401,1,rs4257551,,,,,,chr3,167077691,167077691,T,A,hom,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val133Val/c.399A>T|839|ZBBX|protein_coding|CODING|NM_001199201.1|8|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val104Val/c.312A>T|771|ZBBX|protein_coding|CODING|NM_001199202.1|8|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val133Val/c.399A>T|800|ZBBX|protein_coding|CODING|NM_024687.3|8|1)",,,,,0.999,0.9986,0.999,1.00,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,SERPINI2,SILENT,NM_001012303.2:p.Ile2Ile/c.6C>T,atC/atT,LOW,,0.00159744,0,rs185827542,,,,,,chr3,167191539,167191539,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile2Ile/c.6C>T|415|SERPINI2|protein_coding|CODING|NM_001012303.2|2|1),intron_variant(MODIFIER|||c.-11+252C>T|405|SERPINI2|protein_coding|CODING|NM_006217.4|1|1)",,,,,0.001,0.0072,0.002,,,,,,,,,,,,,,,,,,,
missense_variant,ACTRT3,MISSENSE,NM_032487.4:p.Ser335Pro/c.1003T>C,Tca/Cca,MODERATE,,0.00119808,0,rs112334854,0(D),0.958(D),3.31(M),0.9042(D),,chr3,169485336,169485336,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser335Pro/c.1003T>C|372|ACTRT3|protein_coding|CODING|NM_032487.4|2|1),NHEK:H3K36me3,,,,0.002,0,0.004,0.00,0.00,0.01,,0.000499(D),0.999(D),-3.71(D),0.9098(D),0.813,4.159227,5.03,5.03,0.459000,2.122000,5.058000,0.963000,0.153000,1.000000,13.87
synonymous_variant,LRRIQ4,SILENT,NM_001080460.1:p.Ala513Ala/c.1539A>G,gcA/gcG,LOW,,0.00119808,0,rs112011297,,,,,,chr3,169555275,169555275,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala513Ala/c.1539A>G|560|LRRIQ4|protein_coding|CODING|NM_001080460.1|5|1),downstream_gene_variant(MODIFIER||1754||443|LRRC31|protein_coding|CODING|NM_001277127.1||1),downstream_gene_variant(MODIFIER||1754||496|LRRC31|protein_coding|CODING|NM_001277128.1||1),downstream_gene_variant(MODIFIER||1754||552|LRRC31|protein_coding|CODING|NM_024727.3||1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.002,0,0.004,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,SKIL,MISSENSE,NM_001248008.1:p.Ala38Val/c.113C>T,gCa/gTa,MODERATE,,0.690296,0.8383,rs3772173,1(T),"0.002,0.002(B,B)",-0.29(N),-0.9025(T),,chr3,170078232,170078232,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala38Val/c.113C>T|638|SKIL|protein_coding|CODING|NM_001145097.2|1|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala38Val/c.113C>T|684|SKIL|protein_coding|CODING|NM_001248008.1|1|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala38Val/c.113C>T|684|SKIL|protein_coding|CODING|NM_005414.4|2|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala18Val/c.53C>T|664|SKIL|protein_coding|CODING|NM_001145098.2|3|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K4me1,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HUVEC:H3K27ac,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.6687,0.8228,0.8161,0.72,0.52,0.82,,0.001620(N),0.595(P),"0.26,0.26,0.26,0.26,0.26(T,T,T,T,T)",0.0000(T),0.052,-0.302084,5.52,4.42,0.585000,2.773000,2.137000,0.375000,1.000000,1.000000,4.1038
synonymous_variant,SLC2A2,SILENT,NM_000340.1:p.Phe479Phe/c.1437C>T,ttC/ttT,LOW,,0.372604,0.2411,rs5398,,,,,,chr3,170715830,170715830,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe479Phe/c.1437C>T|524|SLC2A2|protein_coding|CODING|NM_000340.1|11|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe360Phe/c.1080C>T|405|SLC2A2|protein_coding|CODING|NM_001278658.1|10|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe306Phe/c.918C>T|351|SLC2A2|protein_coding|CODING|NM_001278659.1|10|1)","HepG2:RXRA,HepG2:p300,HepG2:H3K27ac,IMR90:DNase1,HepG2:SP1,HepG2:HNF4G,HUVEC:DNase1,HepG2:HNF4A,HepG2:FOXA2,HepG2:H3K36me3,HepG2:FOXA1,HepG2:DNase1",,RCV000118386.2,,0.2832,0.3084,0.2903,0.40,0.59,0.30,,,,,,,,,,,,,,,,
missense_variant,SLC2A2,MISSENSE,NM_000340.1:p.Thr110Ile/c.329C>T,aCt/aTt,MODERATE,,0.215256,0.0159,rs5400,1(T),0.0(B),-2.86(N),-0.9480(T),,chr3,170732300,170732300,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr110Ile/c.329C>T|524|SLC2A2|protein_coding|CODING|NM_000340.1|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||351|SLC2A2|protein_coding|CODING|NM_001278659.1|3|1),5_prime_UTR_variant(MODIFIER||7271|c.-66C>T|351|SLC2A2|protein_coding|CODING|NM_001278659.1|3|1),intron_variant(MODIFIER|||c.14+4020C>T|405|SLC2A2|protein_coding|CODING|NM_001278658.1|2|1)","HepG2:H3K27ac,K562:H3K27me3,HepG2:H3K36me3",,RCV000118387.2,,0.1636,0.1715,0.1352,0.24,0.45,0.13,,0.012794(N),0.000(P),-0.48(T),0.0000(T),0.029,0.880856,6.08,6.08,-0.254000,1.126000,7.036000,0.991000,0.981000,0.955000,12.1128
synonymous_variant,TNIK,SILENT,NM_015028.2:p.Ala777Ala/c.2331G>C,gcG/gcC,LOW,,0.989217,1,rs6444960,,,,,,chr3,170825905,170825905,C,G,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala777Ala/c.2331G>C|1352|TNIK|protein_coding|CODING|NM_001161560.1|20|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala748Ala/c.2244G>C|1331|TNIK|protein_coding|CODING|NM_001161561.1|19|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala748Ala/c.2244G>C|1323|TNIK|protein_coding|CODING|NM_001161562.1|19|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala722Ala/c.2166G>C|1305|TNIK|protein_coding|CODING|NM_001161563.1|19|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala722Ala/c.2166G>C|1297|TNIK|protein_coding|CODING|NM_001161564.1|19|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala693Ala/c.2079G>C|1276|TNIK|protein_coding|CODING|NM_001161565.1|18|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala693Ala/c.2079G>C|1268|TNIK|protein_coding|CODING|NM_001161566.1|18|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala777Ala/c.2331G>C|1360|TNIK|protein_coding|CODING|NM_015028.2|20|1),upstream_gene_variant(MODIFIER||1357|||MIR569||NON_CODING|NR_030295.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.9826,0.9827,0.9751,0.98,1.00,0.97,,,,,,,,,,,,,,,,
synonymous_variant,TNIK,SILENT,NM_015028.2:p.Leu772Leu/c.2316C>T,ctC/ctT,LOW,COSM149515(3),0.197085,0.1885,rs2291900,,,,,,chr3,170825920,170825920,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu772Leu/c.2316C>T|1352|TNIK|protein_coding|CODING|NM_001161560.1|20|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu743Leu/c.2229C>T|1331|TNIK|protein_coding|CODING|NM_001161561.1|19|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu743Leu/c.2229C>T|1323|TNIK|protein_coding|CODING|NM_001161562.1|19|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu717Leu/c.2151C>T|1305|TNIK|protein_coding|CODING|NM_001161563.1|19|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu717Leu/c.2151C>T|1297|TNIK|protein_coding|CODING|NM_001161564.1|19|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu688Leu/c.2064C>T|1276|TNIK|protein_coding|CODING|NM_001161565.1|18|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu688Leu/c.2064C>T|1268|TNIK|protein_coding|CODING|NM_001161566.1|18|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu772Leu/c.2316C>T|1360|TNIK|protein_coding|CODING|NM_015028.2|20|1),upstream_gene_variant(MODIFIER||1372|||MIR569||NON_CODING|NR_030295.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.2403,0.2421,0.2883,0.22,0.10,0.27,,,,,,,,,,,,,,,,
synonymous_variant,TNIK,SILENT,NM_015028.2:p.Asn248Asn/c.744C>T,aaC/aaT,LOW,,0.56889,0.874,rs12637875,,,,,,chr3,170893070,170893070,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1352|TNIK|protein_coding|CODING|NM_001161560.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1331|TNIK|protein_coding|CODING|NM_001161561.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1323|TNIK|protein_coding|CODING|NM_001161562.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1305|TNIK|protein_coding|CODING|NM_001161563.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1297|TNIK|protein_coding|CODING|NM_001161564.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1276|TNIK|protein_coding|CODING|NM_001161565.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1268|TNIK|protein_coding|CODING|NM_001161566.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn248Asn/c.744C>T|1360|TNIK|protein_coding|CODING|NM_015028.2|9|1)","GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6299,0.5994,0.5815,0.48,0.30,0.57,,,,,,,,,,,,,,,,
synonymous_variant,TNIK,SILENT,NM_015028.2:p.Pro21Pro/c.63C>T,ccC/ccT,LOW,,0.45008,0.4276,rs3796295,,,,,,chr3,171087469,171087469,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1352|TNIK|protein_coding|CODING|NM_001161560.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1331|TNIK|protein_coding|CODING|NM_001161561.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1323|TNIK|protein_coding|CODING|NM_001161562.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1305|TNIK|protein_coding|CODING|NM_001161563.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1297|TNIK|protein_coding|CODING|NM_001161564.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1276|TNIK|protein_coding|CODING|NM_001161565.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1268|TNIK|protein_coding|CODING|NM_001161566.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|1360|TNIK|protein_coding|CODING|NM_015028.2|2|1),non_coding_exon_variant(MODIFIER|||n.408C>T||TNIK||CODING|NR_027767.1|2|1)",,,,,0.5613,0.6282,0.7306,0.58,0.20,0.74,,,,,,,,,,,,,,,,
missense_variant,FNDC3B,MISSENSE,NM_001135095.1:p.Thr179Ser/c.536C>G,aCc/aGc,MODERATE,COSM149516(1),0.644768,0.5536,rs7652177,0.83(T),"0.0,0.0(B,B)",-0.55(N),-0.9843(T),,chr3,171969077,171969077,C,G,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr179Ser/c.536C>G|1204|FNDC3B|protein_coding|CODING|NM_001135095.1|6|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr179Ser/c.536C>G|1204|FNDC3B|protein_coding|CODING|NM_022763.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",Height,,,0.5521,0.5634,0.5169,0.61,0.85,0.49,,0.000000(N),0.000(P),"1.57,1.57,1.57,1.57(T,T,T,T)",0.0000(T),0.024,1.027387,5.98,5.98,-0.187000,1.554000,4.977000,0.891000,0.996000,1.000000,17.4819
synonymous_variant,FNDC3B,SILENT,NM_001135095.1:p.Gly458Gly/c.1374T>C,ggT/ggC,LOW,COSM149517(2),0.578674,0.5109,rs2270568,,,,,,chr3,172046861,172046861,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly458Gly/c.1374T>C|1204|FNDC3B|protein_coding|CODING|NM_001135095.1|12|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly458Gly/c.1374T>C|1204|FNDC3B|protein_coding|CODING|NM_022763.3|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6718,0.4611,0.4523,0.51,0.67,0.43,,,,,,,,,,,,,,,,
synonymous_variant,TNFSF10,SILENT,NM_003810.3:p.Phe275Phe/c.825T>C,ttT/ttC,LOW,,0.667732,0.619,rs1131532,,,,,,chr3,172224303,172224303,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe275Phe/c.825T>C|281|TNFSF10|protein_coding|CODING|NM_003810.3|5|1),3_prime_UTR_variant(MODIFIER||371|c.*371T>C|101|TNFSF10|protein_coding|CODING|NM_001190942.1|3|1),non_coding_exon_variant(MODIFIER|||n.905T>C||TNFSF10||CODING|NR_033994.1|4|1)","HUVEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6339,0.5576,0.6909,0.71,0.78,0.68,,,,,,,,,,,,,,,,
missense_variant,NCEH1,MISSENSE,NM_001146276.1:p.Lys103Gln/c.307A>C,Aaa/Caa,MODERATE,COSM4002518(2),0.135982,0.0833,rs2302815,0.35(T),"0.03,0.005(B,B)",1.61(L),-0.9300(T),,chr3,172365832,172365832,T,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys103Gln/c.307A>C|448|NCEH1|protein_coding|CODING|NM_001146276.1|2|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys103Gln/c.307A>C|440|NCEH1|protein_coding|CODING|NM_020792.4|2|1),5_prime_UTR_variant(MODIFIER||2382|c.-179A>C|275|NCEH1|protein_coding|CODING|NM_001146277.1|2|1),intron_variant(MODIFIER|||c.-32-2350A>C|275|NCEH1|protein_coding|CODING|NM_001146278.1|1|1)","HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1022,0.1167,0.1054,0.13,0.21,0.09,,0.214069(N),0.000(P),"3.64,3.62,3.62(T,T,T)",0.0000(T),0.117,1.413799,5.96,4.78,0.533000,1.039000,2.082000,0.830000,1.000000,1.000000,12.521
missense_variant,NCEH1,MISSENSE,NM_001146276.1:p.Gln30Arg/c.89A>G,cAg/cGg,MODERATE,COSM4157445(1),0.542332,0.7183,rs2276805,1(T),0.0(B),0(N),-0.9698(T),,chr3,172428782,172428782,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln30Arg/c.89A>G|448|NCEH1|protein_coding|CODING|NM_001146276.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln30Arg/c.89A>G|440|NCEH1|protein_coding|CODING|NM_020792.4|1|1),5_prime_UTR_variant(MODIFIER||65332|c.-397A>G|275|NCEH1|protein_coding|CODING|NM_001146277.1|1|1),5_prime_UTR_variant(MODIFIER||65332|c.-178A>G|275|NCEH1|protein_coding|CODING|NM_001146278.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:SP1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HeLa-S3:Ap2gamma,CD4:PolII,NHEK:H3K4me2,K562:PU1,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:PU1,CD4:H3K9ac,K562:SP1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ",,,,0.5562,0.745,0.6938,0.54,0.27,0.67,,0.881617(N),1.000(P),"3.72,3.72(T,T)",0.0000(T),0.06,-0.424437,4.37,-4.49,-0.817000,-1.141000,0.035000,0.048000,0.000000,0.130000,2.1408
synonymous_variant,SPATA16,SILENT,NM_031955.5:p.Arg240Arg/c.720G>A,cgG/cgA,LOW,,0.0233626,0,rs55724801,,,,,,chr3,172766777,172766777,C,T,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg240Arg/c.720G>A|569|SPATA16|protein_coding|CODING|NM_031955.5|3|1),,,,,0.0337,0.0735,0.0308,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,SPATA16,MISSENSE,NM_031955.5:p.Gly147Glu/c.440G>A,gGg/gAg,MODERATE,COSM4002519(1),0.136981,0.3065,rs16846616,0.02(D),0.007(B),0.805(L),-0.9822(T),,chr3,172835082,172835082,C,T,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly147Glu/c.440G>A|569|SPATA16|protein_coding|CODING|NM_031955.5|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.136,0.1686,0.0944,0.09,0.05,0.12,,0.007996(N),1.000(P),1.52(T),0.0000(T),0.113,1.551399,5.27,4.39,0.555000,1.342000,0.279000,0.279000,0.077000,0.000000,11.2821
missense_variant,SPATA16,MISSENSE,NM_031955.5:p.Met133Val/c.397A>G,Atg/Gtg,MODERATE,COSM4002520(1),0.428514,0.374,rs1515442,0.19(T),0.0(B),0(N),-1.0318(T),,chr3,172835125,172835125,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met133Val/c.397A>G|569|SPATA16|protein_coding|CODING|NM_031955.5|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.3589,0.3055,0.2465,0.40,0.65,0.28,,0.007839(N),1.000(P),2.55(T),0.0000(T),0.027,0.054895,5.67,5.67,-0.227000,1.405000,1.498000,0.167000,0.970000,1.000000,9.6819
missense_variant,SPATA16,MISSENSE,NM_031955.5:p.Glu78Lys/c.232G>A,Gag/Aag,MODERATE,,0.170727,0.3095,rs1515441,0.07(T),0.167(B),0.695(N),-0.9104(T),,chr3,172835290,172835290,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu78Lys/c.232G>A|569|SPATA16|protein_coding|CODING|NM_031955.5|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.1922,0.183,0.0994,0.12,0.10,0.12,,0.043374(N),0.994(P),2.2(T),0.0000(T),0.107,2.705345,5.27,4.4,-0.127000,1.227000,1.559000,0.989000,1.000000,1.000000,14.1264
missense_variant,SPATA16,MISSENSE,NM_031955.5:p.Ser44Thr/c.130T>A,Tca/Aca,MODERATE,,0.0167732,0,rs146572379,1(T),0.001(B),-0.345(N),-0.9734(T),,chr3,172835392,172835392,A,T,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser44Thr/c.130T>A|569|SPATA16|protein_coding|CODING|NM_031955.5|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.0245,0.0447,0.0268,0.02,0.00,0.03,,0.775092(N),1.000(N),2.45(T),0.0025(T),0.031,-1.336511,5.55,-3.05,-0.137000,-0.750000,-0.562000,0.092000,0.000000,0.000000,7.37
missense_variant,NAALADL2,MISSENSE,NM_207015.2:p.Gly68Ser/c.202G>A,Ggt/Agt,MODERATE,,0.377995,0.4375,rs9823911,1(T),"0.001,0.0(B,B)",0.345(N),-0.9184(T),,chr3,174814738,174814738,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly68Ser/c.202G>A|795|NAALADL2|protein_coding|CODING|NM_207015.2|2|1),intron_variant(MODIFIER|||n.110+15596C>T||NAALADL2-AS3||NON_CODING|NR_046390.1|2|1)",,,,,0.3988,0.4179,0.3926,0.35,0.27,0.39,,0.465639(N),1.000(P),"1.62,1.54(T,T)",0.0000(T),0.019,0.706087,5.72,0.957,-0.269000,-0.042000,0.523000,0.704000,0.018000,0.007000,5.8982
missense_variant,NAALADL2,MISSENSE,NM_207015.2:p.Ile128Met/c.384A>G,atA/atG,MODERATE,,0.396366,0.4375,rs9836841,0.13(T),"0.017,0.009(B,B)",0.205(N),-0.9060(T),,chr3,174814920,174814920,A,G,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile128Met/c.384A>G|795|NAALADL2|protein_coding|CODING|NM_207015.2|2|1),intron_variant(MODIFIER|||n.110+15414T>C||NAALADL2-AS3||NON_CODING|NR_046390.1|2|1)",,,,,0.408,0.4524,0.4433,0.40,0.28,0.45,,0.021400(N),1.000(P),"1.42,1.36(T,T)",0.0000(T),0.081,-0.557312,5.63,-1.48,0.477000,-0.076000,-0.003000,0.151000,0.085000,0.012000,6.1917
missense_variant,NAALADL2,MISSENSE,NM_207015.2:p.Met194Thr/c.581T>C,aTg/aCg,MODERATE,COSM149518(1),0.638778,0.6181,rs4371530,0(D),"0.006,0.0(B,B)",0(N),-0.9534(T),,chr3,174951756,174951756,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met194Thr/c.581T>C|795|NAALADL2|protein_coding|CODING|NM_207015.2|3|1),downstream_gene_variant(MODIFIER||1126|||NAALADL2-AS2||NON_CODING|NR_046713.1||1)",GM12878:H3K36me3,,,,0.7096,0.5749,0.7167,0.70,0.63,0.73,,0.708521(N),1.000(P),1.13(T),0.0000(T),0.017,-0.420179,5.87,-3.1,-0.990000,-1.349000,-1.106000,0.593000,0.004000,0.004000,11.7373
missense_variant,NAALADL2,MISSENSE,NM_207015.2:p.Pro385Ser/c.1153C>T,Ccc/Tcc,MODERATE,,1,1,rs6802937,0.8(T),0.0(B),-1.995(N),-0.9506(T),,chr3,175165079,175165079,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro385Ser/c.1153C>T|795|NAALADL2|protein_coding|CODING|NM_207015.2|6|1),,,,,1,1,1,1.00,1.00,1.00,,0.027888(N),1.000(P),1.1(T),0.0000(T),0.032,-0.993296,5.71,4.53,-0.381000,0.420000,0.196000,0.466000,0.415000,0.002000,1.6264
synonymous_variant,NAALADL2,SILENT,NM_207015.2:p.Gln518Gln/c.1554G>A,caG/caA,LOW,COSM3759879(1),0.547125,0.6756,rs9290555,,,,,,chr3,175189447,175189447,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln518Gln/c.1554G>A|795|NAALADL2|protein_coding|CODING|NM_207015.2|9|1),,,,,0.5153,0.6585,0.6402,0.54,0.36,0.63,,,,,,,,,,,,,,,,
missense_variant,NAALADL2,MISSENSE,NM_207015.2:p.Pro622Arg/c.1865C>G,cCc/cGc,MODERATE,,0.758187,0.8611,rs9866564,0.03(D),0.927(D),1.04(L),-1.0976(T),,chr3,175345143,175345143,C,G,hom,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro622Arg/c.1865C>G|795|NAALADL2|protein_coding|CODING|NM_207015.2|11|1),,,,,0.8241,0.8314,0.8032,0.72,0.59,0.79,,0.000001(D),0.446(P),0.93(T),0.0000(T),0.271,2.064959,5.35,5.35,0.585000,2.488000,3.651000,0.070000,0.974000,0.996000,11.3414
missense_variant,NAALADL2,MISSENSE,NM_207015.2:p.Leu677Ser/c.2030T>C,tTa/tCa,MODERATE,,0.980232,1,rs9826737,1(T),0.0(B),-0.805(N),-0.9378(T),,chr3,175473047,175473047,T,C,hom,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu677Ser/c.2030T>C|795|NAALADL2|protein_coding|CODING|NM_207015.2|13|1),,,,,0.9918,0.9683,0.9354,0.95,0.99,0.94,,0.011571(N),1.000(P),1.64(T),0.0000(T),0.044,-0.166571,5.71,5.71,-0.186000,1.432000,2.214000,0.058000,0.138000,0.066000,6.3411
synonymous_variant,KCNMB2,SILENT,NM_001278911.1:p.Asn96Asn/c.288T>C,aaT/aaC,LOW,,0.582867,0.2252,rs9831934,,,,,,chr3,178546026,178546026,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn96Asn/c.288T>C|235|KCNMB2|protein_coding|CODING|NM_001278911.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn96Asn/c.288T>C|235|KCNMB2|protein_coding|CODING|NM_005832.4|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn96Asn/c.288T>C|235|KCNMB2|protein_coding|CODING|NM_181361.2|4|1)",,,,,0.5256,0.5245,0.5825,0.68,0.87,0.59,,,,,,,,,,,,,,,,
synonymous_variant,KCNMB2,SILENT,NM_001278911.1:p.Thr188Thr/c.564A>C,acA/acC,LOW,,0.580471,0.2212,rs6443583,,,,,,chr3,178560581,178560581,A,C,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr188Thr/c.564A>C|235|KCNMB2|protein_coding|CODING|NM_001278911.1|5|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr188Thr/c.564A>C|235|KCNMB2|protein_coding|CODING|NM_005832.4|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr188Thr/c.564A>C|235|KCNMB2|protein_coding|CODING|NM_181361.2|5|1)",HSMM:H3K36me3,,,,0.5225,0.5259,0.5795,0.68,0.87,0.58,,,,,,,,,,,,,,,,
synonymous_variant,PIK3CA,SILENT,NM_006218.2:p.Thr1025Thr/c.3075C>T,acC/acT,LOW,COSM21451(19),0.0407348,0.005,rs17849079,,,,,,chr3,178952020,178952020,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1025Thr/c.3075C>T|1068|PIK3CA|protein_coding|CODING|NM_006218.2|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000038674.1,,0.1524,0.0029,0.001,0.01,0.03,0.00,,,,,,,,,,,,,,,,
missense_variant,KCNMB3,MISSENSE,NM_014407.3:p.Asp44Gly/c.131A>G,gAt/gGt,MODERATE,,0.0692891,0.005,rs1170672,0.02(D),"0.004,0.066,0.318,0.318,0.169(B,B,B,B,B)",0.695(N),-1.0308(T),,chr3,178968660,178968660,T,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp42Gly/c.125A>G|173|KCNMB3|protein_coding|CODING|NM_001163677.1|2|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp44Gly/c.131A>G|279|KCNMB3|protein_coding|CODING|NM_014407.3|2|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp42Gly/c.125A>G|277|KCNMB3|protein_coding|CODING|NM_171828.2|2|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp22Gly/c.65A>G|257|KCNMB3|protein_coding|CODING|NM_171829.2|2|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp40Gly/c.119A>G|275|KCNMB3|protein_coding|CODING|NM_171830.1|1|1),non_coding_exon_variant(MODIFIER|||n.1007A>G||KCNMB3||CODING|NR_028135.1|2|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,HepG2:H3K4me3,GM06990:H3K36me3",,,,0.1697,0.0375,0.0954,0.09,0.05,0.12,,0.240197(N),1.000(N),"2.05,2.74,2.77,2.81,2.77(T,T,T,T,T)",0.0007(T),0.151,2.672063,6.07,2.34,0.528000,0.169000,1.097000,0.007000,0.004000,0.029000,7.3861
synonymous_variant,ZNF639,SILENT,NM_016331.1:p.Glu240Glu/c.720A>G,gaA/gaG,LOW,COSM3759880(1),0.0880591,0.0714,rs35983049,,,,,,chr3,179051472,179051472,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu240Glu/c.720A>G|485|ZNF639|protein_coding|CODING|NM_016331.1|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0879,0.165,0.13,0.08,0.16,,,,,,,,,,,,,,,,
missense_variant,MFN1,MISSENSE,NM_033540.2:p.Pro523Arg/c.1568C>G,cCt/cGt,MODERATE,,1,1,rs7637065,1(T),0.0(B),-1.935(N),-0.9788(T),,chr3,179096508,179096508,C,G,hom,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro523Arg/c.1568C>G|741|MFN1|protein_coding|CODING|NM_033540.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.002616(N),0.000(P),"1.31,1.31(T,T)",0.0000(T),0.169,-1.088058,5.16,-0.792,-2.096000,-0.785000,0.472000,0.935000,0.923000,0.103000,8.5021
synonymous_variant,GNB4,SILENT,NM_021629.3:p.Ser39Ser/c.117T>C,tcT/tcC,LOW,,0.473043,0.4365,rs1362650,,,,,,chr3,179137273,179137273,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser39Ser/c.117T>C|340|GNB4|protein_coding|CODING|NM_021629.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4969,0.5058,0.5,0.47,0.46,0.47,,,,,,,,,,,,,,,,
synonymous_variant,ACTL6A,SILENT,NM_004301.3:p.Asp339Asp/c.1017C>T,gaC/gaT,LOW,,0.680511,0.8869,rs1132429,,,,,,chr3,179298999,179298999,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp339Asp/c.1017C>T|429|ACTL6A|protein_coding|CODING|NM_004301.3|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp297Asp/c.891C>T|387|ACTL6A|protein_coding|CODING|NM_177989.2|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp297Asp/c.891C>T|387|ACTL6A|protein_coding|CODING|NM_178042.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:DNase1",,,,0.7096,0.6744,0.6203,0.60,0.56,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ACTL6A,SILENT,NM_004301.3:p.Phe360Phe/c.1080T>C,ttT/ttC,LOW,,0.00539137,0,rs114929315,,,,,,chr3,179301194,179301194,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe360Phe/c.1080T>C|429|ACTL6A|protein_coding|CODING|NM_004301.3|12|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe318Phe/c.954T>C|387|ACTL6A|protein_coding|CODING|NM_177989.2|12|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe318Phe/c.954T>C|387|ACTL6A|protein_coding|CODING|NM_178042.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0086,0.0169,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,CCDC39,MISSENSE,NM_181426.1:p.Thr182Ser/c.545C>G,aCt/aGt,MODERATE,,0.00838658,0,rs112738198,0.33(T),0.801(P),1.82(L),-1.1242(T),,chr3,180377529,180377529,G,C,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr182Ser/c.545C>G|941|CCDC39|protein_coding|CODING|NM_181426.1|5|1),,,,,0.0031,0.0115,0.0298,0.03,0.01,0.03,,0.002791(N),0.956(D),"1.97,1.97(T,T)",0.0311(T),0.133,2.629547,5.87,4.04,0.585000,0.781000,5.472000,0.089000,0.905000,1.000000,10.6107
synonymous_variant,ATP11B,SILENT,NM_014616.2:p.Phe996Phe/c.2988T>C,ttT/ttC,LOW,,0.14357,0.0417,rs4859142,,,,-1.0282(T),,chr3,182614493,182614493,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe996Phe/c.2988T>C|1177|ATP11B|protein_coding|CODING|NM_014616.2|26|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.1081,0.0895,0.17,0.31,0.10,,,0.000(P),,0.0000(T),.,1.149424,5.66,4.5,0.455000,0.979000,5.720000,0.991000,1.000000,1.000000,11.301
synonymous_variant,DCUN1D1,SILENT,NM_020640.2:p.Ala106Ala/c.318G>A,gcG/gcA,LOW,COSM3945191(2),0.613019,0.2738,rs4859146,,,,,,chr3,182681740,182681740,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala106Ala/c.318G>A|259|DCUN1D1|protein_coding|CODING|NM_020640.2|3|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6053,0.7017,0.7425,0.76,0.74,0.76,,,,,,,,,,,,,,,,
missense_variant,MCCC1,MISSENSE,NM_020166.4:p.His464Pro/c.1391A>C,cAc/cCc,MODERATE,COSM4002526(1),0.464856,0.3323,rs2270968,0.3(T),"0.003,0.001,0.004(B,B,B)",-1.925(N),-0.9181(T),,chr3,182755209,182755209,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His347Pro/c.1040A>C|608|MCCC1|protein_coding|CODING|NM_001293273.1|11|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His464Pro/c.1391A>C|725|MCCC1|protein_coding|CODING|NM_020166.4|13|1),intron_variant(MODIFIER|||n.2044+1605A>C||MCCC1||CODING|NR_120640.1|12|1),non_coding_exon_variant(MODIFIER|||n.1305A>C||MCCC1||CODING|NR_120639.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081992.1,,0.5746,0.6297,0.7346,0.58,0.29,0.74,,0.000020(D),0.887(P),"-1.43,-1.43,-1.43,-1.43(T,T,T,T)",0.0000(T),0.413,1.051243,5.93,3.51,0.459000,0.474000,1.118000,0.990000,0.990000,1.000000,8.3092
synonymous_variant,MCCC1,SILENT,NM_020166.4:p.Leu132Leu/c.396C>T,ctC/ctT,LOW,,0.915535,1,rs7622479,,,,,,chr3,182790249,182790249,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu132Leu/c.396C>T|725|MCCC1|protein_coding|CODING|NM_020166.4|5|1),intron_variant(MODIFIER|||c.141-1104C>T|608|MCCC1|protein_coding|CODING|NM_001293273.1|3|1),non_coding_exon_variant(MODIFIER|||n.310C>T||MCCC1||CODING|NR_120639.1|3|1),non_coding_exon_variant(MODIFIER|||n.1063C>T||MCCC1||CODING|NR_120640.1|5|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081994.1,,0.9642,0.9597,0.9334,0.89,0.80,0.93,,,,,,,,,,,,,,,,
synonymous_variant,LAMP3,SILENT,NM_014398.3:p.Ala89Ala/c.267G>A,gcG/gcA,LOW,COSM4157458(1),0.785942,0.7242,rs386603334,,,,,,chr3,182871962,182871962,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala89Ala/c.267G>A|416|LAMP3|protein_coding|CODING|NM_014398.3|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7771,0.8285,0.829,0.82,0.79,0.83,,,,,,,,,,,,,,,,
missense_variant,MCF2L2,MISSENSE,NM_015078.3:p.Met1015Thr/c.3044T>C,aTg/aCg,MODERATE,COSM4002527(1),0.190495,0.3056,rs35070271,0.58(T),0.0(B),0.55(N),-0.9131(T),,chr3,182897920,182897920,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1015Thr/c.3044T>C|1114|MCF2L2|protein_coding|CODING|NM_015078.3|28|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1033,0.3559,0.171,0.13,0.12,0.14,,0.110136(N),1.000(P),"4.67,4.7(T,T)",0.0000(T),0.095,0.748863,4.3,-3.98,-0.534000,-1.047000,-0.999000,0.645000,0.001000,0.000000,10.7505
missense_variant,MCF2L2,MISSENSE,NM_015078.3:p.Thr902Ala/c.2704A>G,Acc/Gcc,MODERATE,,0.91274,1,rs6804951,0.57(T),0.0(B),-0.695(N),-0.9989(T),,chr3,182925404,182925404,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr902Ala/c.2704A>G|1114|MCF2L2|protein_coding|CODING|NM_015078.3|23|1),"HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3",,,,0.9673,0.9409,0.9225,0.88,0.79,0.92,,0.001632(N),0.000(P),"2.8,2.8(T,T)",0.0000(T),0.01,-0.013861,4.76,3.58,-1.983000,0.269000,3.127000,0.219000,0.647000,0.616000,5.7136
missense_variant,MCF2L2,MISSENSE,NM_015078.3:p.Ile359Leu/c.1075A>C,Att/Ctt,MODERATE,COSM149522(3),0.334465,0.3562,rs386612156,1(T),"0.001,0.0(B,B)",-1.48(N),-0.9300(T),,chr3,183027542,183027542,T,G,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile359Leu/c.1075A>C|1114|MCF2L2|protein_coding|CODING|NM_015078.3|10|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3814,0.2363,0.2167,0.27,0.40,0.20,,0.000009(N),1.000(P),"1.09,1.09,1.09,1.09(T,T,T,T)",0.0000(T),0.098,-0.945787,4.73,3.84,-0.121000,0.706000,3.804000,0.074000,0.037000,1.000000,14.0032
missense_variant,MCF2L2,MISSENSE,NM_015078.3:p.Thr159Met/c.476C>T,aCg/aTg,MODERATE,COSM1421202(1),0.0565096,0.122,rs12632177,1(T),"0.003,0.003,0.001(B,B,B)",-1.81(N),-1.0365(T),,chr3,183056598,183056598,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr159Met/c.476C>T|1114|MCF2L2|protein_coding|CODING|NM_015078.3|5|1),IMR90:H3K27me3,,,,0.0297,0.0375,0.0487,0.04,0.04,0.04,,0.000001(N),1.000(P),"0.22,0.22,0.22,0.22(T,T,T,T)",0.0003(T),0.117,-2.510981,4.81,2.4,-2.285000,-0.050000,3.385000,0.017000,0.988000,1.000000,5.1029
synonymous_variant,KLHL6,SILENT,NM_130446.2:p.Asn437Asn/c.1311T>C,aaT/aaC,LOW,COSM3759881(1),0.697883,0.8006,rs1520101,,,,,,chr3,183211906,183211906,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn437Asn/c.1311T>C|621|KLHL6|protein_coding|CODING|NM_130446.2|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6677,0.5793,0.4771,0.58,0.80,0.47,,,,,,,,,,,,,,,,
synonymous_variant,KLHL6,SILENT,NM_130446.2:p.Ser397Ser/c.1191G>A,tcG/tcA,LOW,COSM3759882(1),0.150759,0.0069,rs2256061,,,,,,chr3,183212026,183212026,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser397Ser/c.1191G>A|621|KLHL6|protein_coding|CODING|NM_130446.2|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1616,0.1225,0.1819,0.21,0.23,0.20,,,,,,,,,,,,,,,,
synonymous_variant,KLHL24,SILENT,NM_017644.3:p.Arg24Arg/c.72A>T,cgA/cgT,LOW,COSM149525(4),0.350439,0.4355,rs3755648,,,,,,chr3,183368216,183368216,A,T,hom,synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg24Arg/c.72A>T|600|KLHL24|protein_coding|CODING|NM_017644.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1789,0.2795,0.2654,0.35,0.48,0.28,,,,,,,,,,,,,,,,
synonymous_variant,KLHL24,SILENT,NM_017644.3:p.His249His/c.747C>T,caC/caT,LOW,COSM3759883(2),0.353235,0.4355,rs2293031,,,,,,chr3,183368891,183368891,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His249His/c.747C>T|600|KLHL24|protein_coding|CODING|NM_017644.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.181,0.2867,0.2714,0.35,0.49,0.28,,,,,,,,,,,,,,,,
synonymous_variant,YEATS2,SILENT,NM_018023.4:p.Thr11Thr/c.33C>T,acC/acT,LOW,COSM3746616(2),0.189297,0.2937,rs3736535,,,,,,chr3,183432983,183432983,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr11Thr/c.33C>T|1422|YEATS2|protein_coding|CODING|NM_018023.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1074,0.3256,0.1382,0.16,0.15,0.16,,,,,,,,,,,,,,,,
synonymous_variant,YEATS2,SILENT,NM_018023.4:p.Ser1249Ser/c.3747C>T,tcC/tcT,LOW,,0.0241613,0,rs34612765,,,,,,chr3,183521939,183521939,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1249Ser/c.3747C>T|1422|YEATS2|protein_coding|CODING|NM_018023.4|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0297,0.0303,0.0646,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,ABCC5,SILENT,NM_005688.2:p.Leu1208Leu/c.3624C>T,ctC/ctT,LOW,,0.249002,0.4365,rs3749442,,,,,,chr3,183660585,183660585,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1208Leu/c.3624C>T|1437|ABCC5|protein_coding|CODING|NM_005688.2|25|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.2709,0.1769,0.17,0.16,0.17,,,,,,,,,,,,,,,,
synonymous_variant,ABCC5,SILENT,NM_005688.2:p.Cys594Cys/c.1782T>C,tgT/tgC,LOW,,0.691693,0.8621,rs939336,,,,,,chr3,183685534,183685534,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys594Cys/c.1782T>C|1437|ABCC5|protein_coding|CODING|NM_005688.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.5951,0.5746,0.63,0.77,0.56,,,,,,,,,,,,,,,,
synonymous_variant,ABCC5,SILENT,NM_005688.2:p.Ala395Ala/c.1185T>C,gcT/gcC,LOW,COSM3759886(1),0.676518,0.8522,rs1132776,,,,,,chr3,183696402,183696402,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala395Ala/c.1185T>C|1437|ABCC5|protein_coding|CODING|NM_005688.2|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5654,0.5879,0.5746,0.62,0.73,0.56,,,,,,,,,,,,,,,,
missense_variant,HTR3D,MISSENSE,NM_001163646.1:p.Arg90Gln/c.269G>A,cGg/cAg,MODERATE,COSM3992902(1),0.239217,0.4345,rs36092077,0.6(T),0.01(B),-0.205(N),-1.0497(T),,chr3,183753777,183753777,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg90Gln/c.269G>A|454|HTR3D|protein_coding|CODING|NM_001163646.1|3|1),intron_variant(MODIFIER|||c.112-26G>A|404|HTR3D|protein_coding|CODING|NM_001145143.1|2|1),intron_variant(MODIFIER|||c.-31-380G>A|279|HTR3D|protein_coding|CODING|NM_182537.2|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1585,0.2579,0.1819,0.18,0.18,0.18,,0.000002(N),1.000(P),-0.88(T),0.0000(T),0.078,-1.388639,1.41,-1.24,-0.224000,-0.277000,1.118000,0.014000,0.009000,0.157000,3.949
splice_donor_variant,HTR3D,protein_coding,NM_001163646.1:c.512G>C,,HIGH,COSM3759888(2),0.533746,0.4841,rs6443930,,,,,HTR3D:0.33(3);,chr3,183754294,183754294,G,C,het,"splice_donor_variant(HIGH|||c.512G>C|454|HTR3D|protein_coding|CODING|NM_001163646.1|4|1),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly36Ala/c.107G>C|279|HTR3D|protein_coding|CODING|NM_182537.2|3|1),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly110Ala/c.329G>C|404|HTR3D|protein_coding|CODING|NM_001145143.1|4|1),intron_variant(MODIFIER|||c.511+1G>C|454|HTR3D|protein_coding|CODING|NM_001163646.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4673,0.4582,0.4712,0.52,0.65,0.45,,,0.000(P),,,.,0.628449,4.98,4.1,-0.126000,1.468000,0.515000,0.107000,0.202000,0.947000,8.6753
synonymous_variant,HTR3D,SILENT,NM_001163646.1:p.Thr187Thr/c.561C>T,acC/acT,LOW,,0.0852636,0.1617,rs56365132,,,,,,chr3,183754585,183754585,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr139Thr/c.417C>T|404|HTR3D|protein_coding|CODING|NM_001145143.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr187Thr/c.561C>T|454|HTR3D|protein_coding|CODING|NM_001163646.1|5|1),intron_variant(MODIFIER|||c.141+257C>T|279|HTR3D|protein_coding|CODING|NM_182537.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1278,0.0605,0.0746,0.05,0.03,0.06,,,,,,,,,,,,,,,,
missense_variant,HTR3D,MISSENSE,NM_001163646.1:p.Arg225His/c.674G>A,cGc/cAc,MODERATE,COSM3759890(2),0.763978,0.9167,rs1000952,0.02(D),"0.753,0.171,0.071,0.249(P,B,B,B)",1.73(L),-0.9436(T),,chr3,183755822,183755822,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg225His/c.674G>A|454|HTR3D|protein_coding|CODING|NM_001163646.1|6|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg177His/c.530G>A|404|HTR3D|protein_coding|CODING|NM_001145143.1|6|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg52His/c.155G>A|279|HTR3D|protein_coding|CODING|NM_182537.2|4|1)","NHEK:CTCF,HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6288,0.7061,0.6531,0.70,0.82,0.64,,0.000310(N),0.983(P),"-1.05,-2.0,-3.17,-0.94(T,D,D,T)",0.0000(T),0.147,-0.090615,0.149,0.149,0.195000,0.192000,0.251000,0.012000,0.962000,0.602000,.
missense_variant,HTR3D,MISSENSE,NM_001163646.1:p.Leu372Val/c.1114C>G,Ctc/Gtc,MODERATE,,0.0884585,0.1627,rs75040538,0.31(T),"0.912,0.7,0.571,0.501(D,P,P,P)",2.2(M),-0.9640(T),,chr3,183756391,183756391,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu372Val/c.1114C>G|454|HTR3D|protein_coding|CODING|NM_001163646.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu322Val/c.964C>G|404|HTR3D|protein_coding|CODING|NM_001145143.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu197Val/c.589C>G|279|HTR3D|protein_coding|CODING|NM_182537.2|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.0605,0.0746,0.05,0.04,0.06,,0.581133(N),1.000(P),"-1.57,-1.57,-1.57,-1.57(D,D,D,D)",0.0050(T),0.062,0.835664,3.58,1.75,0.462000,0.320000,0.108000,0.157000,0.001000,0.000000,5.989
synonymous_variant,HTR3D,SILENT,NM_001163646.1:p.Ala413Ala/c.1239C>T,gcC/gcT,LOW,,0.0882588,0.1627,rs56203055,,,,,,chr3,183756637,183756637,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala363Ala/c.1089C>T|404|HTR3D|protein_coding|CODING|NM_001145143.1|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala413Ala/c.1239C>T|454|HTR3D|protein_coding|CODING|NM_001163646.1|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala238Ala/c.714C>T|279|HTR3D|protein_coding|CODING|NM_182537.2|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.0605,0.0746,0.05,0.04,0.06,,,,,,,,,,,,,,,,
missense_variant,HTR3D,MISSENSE,NM_001163646.1:p.Arg435His/c.1304G>A,cGc/cAc,MODERATE,COSM3759893(2),0.678514,0.754,rs6789754,0.3(T),"0.16,0.017,0.006,0.052(B,B,B,B)",1.67(L),-0.9159(T),,chr3,183756702,183756702,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg385His/c.1154G>A|404|HTR3D|protein_coding|CODING|NM_001145143.1|8|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg435His/c.1304G>A|454|HTR3D|protein_coding|CODING|NM_001163646.1|8|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg260His/c.779G>A|279|HTR3D|protein_coding|CODING|NM_182537.2|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5031,0.6455,0.5905,0.65,0.78,0.59,,0.655669(N),1.000(P),"-1.55,-1.55,-1.55,-1.55(D,D,D,D)",0.0000(T),0.211,1.629459,4.11,1.16,0.563000,0.107000,2.087000,0.944000,0.916000,0.024000,4.1452
missense_variant,HTR3C,MISSENSE,NM_130770.2:p.Gly405Ala/c.1214G>C,gGa/gCa,MODERATE,COSM149532(4),0.55631,0.746,rs6807362,0.53(T),0.156(B),1.445(L),-0.9912(T),,chr3,183778010,183778010,G,C,het,missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly405Ala/c.1214G>C|447|HTR3C|protein_coding|CODING|NM_130770.2|9|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4223,0.6715,0.5676,0.51,0.47,0.53,,0.692431(N),1.000(P),-1.57(D),0.0000(T),0.046,-0.491959,3.66,-6.84,0.563000,-0.832000,-0.507000,0.034000,0.000000,0.000000,6.4174
missense_variant,HTR3E,MISSENSE,NM_001256614.1:p.Ala86Thr/c.256G>A,Gcg/Acg,MODERATE,COSM3927782(2),0.734225,0.7679,rs7627615,1(T),"0.001,0.001,0.001,0.0,0.0(B,B,B,B,B)",-1.95(N),-0.9562(T),,chr3,183818416,183818416,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala86Thr/c.256G>A|482|HTR3E|protein_coding|CODING|NM_001256614.1|1|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala86Thr/c.256G>A|471|HTR3E|protein_coding|CODING|NM_182589.2|1|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala86Thr/c.256G>A|456|HTR3E|protein_coding|CODING|NM_198314.2|1|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala71Thr/c.211G>A|456|HTR3E|protein_coding|CODING|NM_001256613.1|2|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala71Thr/c.211G>A|441|HTR3E|protein_coding|CODING|NM_198313.2|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.592,0.683,0.6233,0.68,0.87,0.59,,0.000347(N),1.000(P),"-1.04,-0.95,-1.04,-0.95,-0.95(T,T,T,T,T)",0.0000(T),0.053,-0.423357,3.8,2.64,-0.254000,0.176000,3.012000,0.794000,0.720000,0.995000,6.6865
synonymous_variant,HTR3E,SILENT,NM_001256614.1:p.Ser274Ser/c.822T>C,agT/agC,LOW,,0.999201,1,rs4912524,,,,,,chr3,183823576,183823576,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser248Ser/c.744T>C|456|HTR3E|protein_coding|CODING|NM_001256613.1|7|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser274Ser/c.822T>C|482|HTR3E|protein_coding|CODING|NM_001256614.1|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser263Ser/c.789T>C|471|HTR3E|protein_coding|CODING|NM_182589.2|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser233Ser/c.699T>C|441|HTR3E|protein_coding|CODING|NM_198313.2|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser248Ser/c.744T>C|456|HTR3E|protein_coding|CODING|NM_198314.2|5|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,0.997,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DVL3,SILENT,NM_004423.3:p.Pro102Pro/c.306T>A,ccT/ccA,LOW,,0.00179712,0,rs142016012,,,,,,chr3,183882129,183882129,T,A,het,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro102Pro/c.306T>A|716|DVL3|protein_coding|CODING|NM_004423.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0058,0.004,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,AP2M1,SILENT,NM_004068.3:p.Ile320Ile/c.960C>T,atC/atT,LOW,,0.14357,0.004,rs8478,,,,,,chr3,183899832,183899832,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile318Ile/c.954C>T|433|AP2M1|protein_coding|CODING|NM_001025205.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile320Ile/c.960C>T|435|AP2M1|protein_coding|CODING|NM_004068.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1595,0.1066,0.164,0.18,0.21,0.17,,,,,,,,,,,,,,,,
synonymous_variant,AP2M1,SILENT,NM_004068.3:p.Ala395Ala/c.1185G>A,gcG/gcA,LOW,,0.0734824,0.004,rs2231224,,,,,,chr3,183901281,183901281,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala393Ala/c.1179G>A|433|AP2M1|protein_coding|CODING|NM_001025205.1|11|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala395Ala/c.1185G>A|435|AP2M1|protein_coding|CODING|NM_004068.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1534,0.0749,0.1372,0.11,0.03,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ABCF3,SILENT,NM_018358.2:p.Gln18Gln/c.54A>G,caA/caG,LOW,COSM3759900(1),0.172524,0.3075,rs11539876,,,,,,chr3,183904049,183904049,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln18Gln/c.54A>G|709|ABCF3|protein_coding|CODING|NM_018358.2|1|1),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HeLa-S3:Nrf1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.0992,0.3343,0.1918,0.14,0.05,0.19,,,,,,,,,,,,,,,,
missense_variant,VWA5B2,MISSENSE,NM_138345.1:p.Gly90Ser/c.268G>A,Ggc/Agc,MODERATE,,0.197284,0.2341,rs1687225,1(T),0.002(B),0.345(N),-0.9819(T),,chr3,183948663,183948663,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly90Ser/c.268G>A|1242|VWA5B2|protein_coding|CODING|NM_138345.1|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.226,0.1844,0.2256,,,,,,0.000(P),1.48(T),0.0000(T),0.19,1.298341,3.97,1.98,0.555000,0.993000,2.027000,0.797000,0.999000,0.992000,5.7959
synonymous_variant,VWA5B2,SILENT,NM_138345.1:p.Ala160Ala/c.480C>T,gcC/gcT,LOW,COSM3749824(7),0.299121,0.3165,rs729377,,,,,,chr3,183951135,183951135,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala160Ala/c.480C>T|1242|VWA5B2|protein_coding|CODING|NM_138345.1|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2362,0.2608,0.2783,,,,,,,,,,,,,,,,,,,
missense_variant,VWA5B2,MISSENSE,NM_138345.1:p.Pro200Ser/c.598C>T,Cct/Tct,MODERATE,COSM479782(1),0.217252,0.2351,rs902417,0.24(T),"0.1,0.006(B,B)",0(N),-1.0314(T),,chr3,183951431,183951431,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro200Ser/c.598C>T|1242|VWA5B2|protein_coding|CODING|NM_138345.1|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.228,0.2075,0.2485,0.21,0.17,0.23,,,0.000(P),0.19(T),0.0000(T),0.07,-0.521080,3.84,1.99,0.462000,0.384000,1.678000,0.641000,0.982000,0.999000,4.7979
synonymous_variant,VWA5B2,SILENT,NM_138345.1:p.Pro378Pro/c.1134G>A,ccG/ccA,LOW,COSM4157465(1),0.199281,0.2351,rs1709657,,,,,,chr3,183953972,183953972,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro378Pro/c.1134G>A|1242|VWA5B2|protein_coding|CODING|NM_138345.1|8|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.227,0.1888,0.2256,0.19,0.15,0.21,,,,,,,,,,,,,,,,
synonymous_variant,VWA5B2,SILENT,NM_138345.1:p.Pro543Pro/c.1629C>T,ccC/ccT,LOW,COSM4157466(1),0.198882,0.2351,rs843334,,,,,,chr3,183955109,183955109,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro543Pro/c.1629C>T|1242|VWA5B2|protein_coding|CODING|NM_138345.1|11|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.227,0.1844,0.2256,0.19,0.15,0.21,,,,,,,,,,,,,,,,
synonymous_variant,VWA5B2,SILENT,NM_138345.1:p.Pro1137Pro/c.3411A>C,ccA/ccC,LOW,,0.0690895,0.0079,rs28606531,,,,,,chr3,183959508,183959508,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1137Pro/c.3411A>C|1242|VWA5B2|protein_coding|CODING|NM_138345.1|19|1),downstream_gene_variant(MODIFIER||609||390|ALG3|protein_coding|CODING|NM_001006941.2||1),downstream_gene_variant(MODIFIER||609||438|ALG3|protein_coding|CODING|NM_005787.5||1),downstream_gene_variant(MODIFIER||609|||ALG3||CODING|NR_024533.1||1),downstream_gene_variant(MODIFIER||609|||ALG3||CODING|NR_024534.1||1),downstream_gene_variant(MODIFIER||231|||MIR1224||NON_CODING|NR_030410.1||1)","H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,HepG2:Nrsf,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,K562:Nrsf,GM06990:H3K36me3,K562:DNase1",,,,0.1166,0.0735,0.1451,,,,,,,,,,,,,,,,,,,
missense_variant,ECE2,MISSENSE,NM_014693.3:p.His101Tyr/c.301C>T,Cat/Tat,MODERATE,,0.992812,1,rs7633387,0.67(T),"0.0,0.0(B,B)",0.29(N),-0.9551(T),,chr3,183975365,183975365,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His101Tyr/c.301C>T|883|ECE2|protein_coding|CODING|NM_014693.3|2|1),missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His101Tyr/c.301C>T|255|ECE2|protein_coding|CODING|NM_032331.3|2|1),downstream_gene_variant(MODIFIER||1638||79|CAMK2N2|protein_coding|CODING|NM_033259.2||1)","H1ESC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9969,0.9928,0.9732,0.98,0.99,0.97,,,0.000(P),"-0.01,-0.01(T,T)",0.0000(T),0.132,0.245535,5.88,5.88,-0.254000,1.054000,2.290000,0.917000,1.000000,1.000000,11.369
synonymous_variant,ECE2,SILENT,NM_032331.3:p.Phe171Phe/c.513T>C,ttT/ttC,LOW,COSM4002533(2),0.32528,0.3393,rs386620210,,,,,,chr3,183976108,183976108,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe171Phe/c.513T>C|255|ECE2|protein_coding|CODING|NM_032331.3|3|1),downstream_gene_variant(MODIFIER||895||79|CAMK2N2|protein_coding|CODING|NM_033259.2||1),intron_variant(MODIFIER|||c.480+564T>C|883|ECE2|protein_coding|CODING|NM_014693.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2321,0.2536,0.2455,0.29,0.41,0.23,,,,,,,,,,,,,,,,
missense_variant,ECE2,MISSENSE,NM_032331.3:p.Lys216Glu/c.646A>G,Aag/Gag,MODERATE,COSM4002534(1),0.134984,0.0169,rs6767237,0.64(T),0.0(B),,-0.9579(T),,chr3,183976241,183976241,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys216Glu/c.646A>G|255|ECE2|protein_coding|CODING|NM_032331.3|3|1),downstream_gene_variant(MODIFIER||762||79|CAMK2N2|protein_coding|CODING|NM_033259.2||1),intron_variant(MODIFIER|||c.480+697A>G|883|ECE2|protein_coding|CODING|NM_014693.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1544,0.121,0.1451,0.15,0.17,0.14,,,0.000(P),2.27(T),0.0000(T),0.018,-0.752287,5.13,5.13,-0.119000,1.407000,2.206000,0.763000,0.847000,1.000000,5.5745
synonymous_variant,ECE2,SILENT,NM_014693.3:p.Ala357Ala/c.1071C>T,gcC/gcT,LOW,COSM4002537(1),0.501997,0.4157,rs3752904,,,,,,chr3,183996068,183996068,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala210Ala/c.630C>T|736|ECE2|protein_coding|CODING|NM_001037324.2|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala285Ala/c.855C>T|811|ECE2|protein_coding|CODING|NM_001100120.1|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala239Ala/c.717C>T|765|ECE2|protein_coding|CODING|NM_001100121.1|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala357Ala/c.1071C>T|883|ECE2|protein_coding|CODING|NM_014693.3|6|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.362,0.6095,0.5308,0.55,0.61,0.52,,,,,,,,,,,,,,,,
missense_variant,EIF4G1,MISSENSE,NM_001194946.1:p.Thr168Ala/c.502A>G,Acc/Gcc,MODERATE,,0.999201,1,rs13319149,1(T),"0.0,0.0,0.0(B,B,B)",-0.69(N),-0.9832(T),,chr3,184037533,184037533,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr168Ala/c.502A>G|1606|EIF4G1|protein_coding|CODING|NM_001194946.1|8|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr168Ala/c.502A>G|1606|EIF4G1|protein_coding|CODING|NM_001194947.1|7|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr121Ala/c.361A>G|1559|EIF4G1|protein_coding|CODING|NM_001291157.1|7|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr161Ala/c.481A>G|1600|EIF4G1|protein_coding|CODING|NM_182917.4|6|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr161Ala/c.481A>G|1599|EIF4G1|protein_coding|CODING|NM_198241.2|7|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr74Ala/c.220A>G|1512|EIF4G1|protein_coding|CODING|NM_198244.2|4|1),5_prime_UTR_variant(MODIFIER||12|c.-12A>G|1435|EIF4G1|protein_coding|CODING|NM_198242.2|3|1),upstream_gene_variant(MODIFIER||568||1404|EIF4G1|protein_coding|CODING|NM_004953.4||1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:DNase1,NHEK:H3K4me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H4K20me1,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1",,,,1,1,0.996,1.00,1.00,1.00,,0.027206(N),0.967(P),"1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41,1.41(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.288,0.508245,4.68,-1.84,-0.355000,-0.543000,0.706000,0.976000,0.302000,0.532000,5.9424
missense_variant,EIF4G1,MISSENSE,NM_001194946.1:p.Met439Val/c.1315A>G,Atg/Gtg,MODERATE,,0.782348,0.6528,rs2178403,0.36(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.69(N),-0.9455(T),,chr3,184039666,184039666,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met439Val/c.1315A>G|1606|EIF4G1|protein_coding|CODING|NM_001194946.1|11|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met439Val/c.1315A>G|1606|EIF4G1|protein_coding|CODING|NM_001194947.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met392Val/c.1174A>G|1559|EIF4G1|protein_coding|CODING|NM_001291157.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met236Val/c.706A>G|1404|EIF4G1|protein_coding|CODING|NM_004953.4|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met432Val/c.1294A>G|1600|EIF4G1|protein_coding|CODING|NM_182917.4|9|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met432Val/c.1294A>G|1599|EIF4G1|protein_coding|CODING|NM_198241.2|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met268Val/c.802A>G|1435|EIF4G1|protein_coding|CODING|NM_198242.2|6|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met345Val/c.1033A>G|1512|EIF4G1|protein_coding|CODING|NM_198244.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6646,0.7968,0.7525,0.82,0.94,0.76,,0.110018(N),1.000(P),"0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,0.07,1.64,0.07(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.172,-3.351449,5.64,2.77,-1.507000,0.310000,0.724000,0.002000,0.001000,0.001000,2.9723
synonymous_variant,EIF4G1,SILENT,NM_001194946.1:p.His1342His/c.4026C>T,caC/caT,LOW,COSM1179814(1),0.134185,0.0506,rs2230571,,,,,,chr3,184046470,184046470,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His1342His/c.4026C>T|1606|EIF4G1|protein_coding|CODING|NM_001194946.1|28|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1342His/c.4026C>T|1606|EIF4G1|protein_coding|CODING|NM_001194947.1|27|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1295His/c.3885C>T|1559|EIF4G1|protein_coding|CODING|NM_001291157.1|27|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1140His/c.3420C>T|1404|EIF4G1|protein_coding|CODING|NM_004953.4|20|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1336His/c.4008C>T|1600|EIF4G1|protein_coding|CODING|NM_182917.4|26|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1335His/c.4005C>T|1599|EIF4G1|protein_coding|CODING|NM_198241.2|27|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1171His/c.3513C>T|1435|EIF4G1|protein_coding|CODING|NM_198242.2|23|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1248His/c.3744C>T|1512|EIF4G1|protein_coding|CODING|NM_198244.2|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2679,0.1354,0.2346,0.18,0.06,0.25,,,,,,,,,,,,,,,,
missense_variant,CLCN2,MISSENSE,NM_004366.5:p.Thr668Ser/c.2003C>G,aCc/aGc,MODERATE,COSM149533(3),0.461262,0.1032,rs9820367,0.63(T),"0.0,0.0,0.001,0.0(B,B,B,B)",-0.55(N),-0.9348(T),,chr3,184071063,184071063,G,C,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr651Ser/c.1952C>G|881|CLCN2|protein_coding|CODING|NM_001171087.2|17|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr624Ser/c.1871C>G|854|CLCN2|protein_coding|CODING|NM_001171088.2|16|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr668Ser/c.2003C>G|869|CLCN2|protein_coding|CODING|NM_001171089.2|17|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr668Ser/c.2003C>G|898|CLCN2|protein_coding|CODING|NM_004366.5|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.456,0.3732,0.5586,0.59,0.68,0.55,,0.052518(N),0.000(P),"-1.75,-1.71,-1.81,-1.81(D,D,D,D)",0.0000(T),0.039,-0.495842,5.62,4.72,-0.215000,1.395000,0.790000,0.639000,0.975000,0.002000,8.3489
synonymous_variant,CLCN2,SILENT,NM_004366.5:p.Ile302Ile/c.906T>C,atT/atC,LOW,,0.355032,0.373,rs2228291,,,,,,chr3,184075047,184075047,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile302Ile/c.906T>C|881|CLCN2|protein_coding|CODING|NM_001171087.2|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile258Ile/c.774T>C|854|CLCN2|protein_coding|CODING|NM_001171088.2|8|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile302Ile/c.906T>C|869|CLCN2|protein_coding|CODING|NM_001171089.2|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile302Ile/c.906T>C|898|CLCN2|protein_coding|CODING|NM_004366.5|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2423,0.4352,0.2356,0.31,0.44,0.24,,,,,,,,,,,,,,,,
synonymous_variant,THPO,SILENT,NM_001290003.1:p.Ser95Ser/c.285T>C,tcT/tcC,LOW,,0.506789,0.3919,rs956732,,,,,,chr3,184094183,184094183,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser95Ser/c.285T>C|493|THPO|protein_coding|CODING|NM_001290003.1|3|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|353|THPO|protein_coding|CODING|NM_000460.3|2|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|349|THPO|protein_coding|CODING|NM_001177597.2|2|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|319|THPO|protein_coding|CODING|NM_001177598.2|2|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|286|THPO|protein_coding|CODING|NM_001289997.1|2|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|353|THPO|protein_coding|CODING|NM_001289998.1|3|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|349|THPO|protein_coding|CODING|NM_001290022.1|3|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|319|THPO|protein_coding|CODING|NM_001290026.1|3|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|286|THPO|protein_coding|CODING|NM_001290027.1|3|1),5_prime_UTR_variant(MODIFIER||136|c.-136T>C|353|THPO|protein_coding|CODING|NM_001290028.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3926,0.6354,0.503,,,,,,,,,,,,,,,,,,,
synonymous_variant,CHRD,SILENT,NM_003741.2:p.Pro29Pro/c.87A>C,ccA/ccC,LOW,COSM4157476(2),,,rs1920128,,,,,,chr3,184098193,184098193,A,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro29Pro/c.87A>C|955|CHRD|protein_coding|CODING|NM_003741.2|1|1),upstream_gene_variant(MODIFIER||717||353|THPO|protein_coding|CODING|NM_001289998.1||1),upstream_gene_variant(MODIFIER||717||493|THPO|protein_coding|CODING|NM_001290003.1||1),upstream_gene_variant(MODIFIER||717||349|THPO|protein_coding|CODING|NM_001290022.1||1),upstream_gene_variant(MODIFIER||717||319|THPO|protein_coding|CODING|NM_001290026.1||1),upstream_gene_variant(MODIFIER||717||286|THPO|protein_coding|CODING|NM_001290027.1||1),upstream_gene_variant(MODIFIER||717||353|THPO|protein_coding|CODING|NM_001290028.1||1)","H1ESC:H3K36me3,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:Znf263,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CHRD,SILENT,NM_003741.2:p.Gly159Gly/c.477C>A,ggC/ggA,LOW,COSM3759902(2),0.16254,0.0724,rs35929225,,,,,,chr3,184099378,184099378,C,A,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly159Gly/c.477C>A|955|CHRD|protein_coding|CODING|NM_003741.2|4|1),upstream_gene_variant(MODIFIER||1902||353|THPO|protein_coding|CODING|NM_001289998.1||1),upstream_gene_variant(MODIFIER||1902||493|THPO|protein_coding|CODING|NM_001290003.1||1),upstream_gene_variant(MODIFIER||1902||349|THPO|protein_coding|CODING|NM_001290022.1||1),upstream_gene_variant(MODIFIER||1902||319|THPO|protein_coding|CODING|NM_001290026.1||1),upstream_gene_variant(MODIFIER||1902||286|THPO|protein_coding|CODING|NM_001290027.1||1),upstream_gene_variant(MODIFIER||1902||353|THPO|protein_coding|CODING|NM_001290028.1||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1779,0.1988,0.3131,0.25,0.12,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CHRD,SILENT,NM_003741.2:p.Asn504Asn/c.1512C>T,aaC/aaT,LOW,COSM3759903(2),0.120208,0.2024,rs16858778,,,,,,chr3,184102396,184102396,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn504Asn/c.1512C>T|955|CHRD|protein_coding|CODING|NM_003741.2|13|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1452,0.2522,0.0507,0.07,0.04,0.08,,,,,,,,,,,,,,,,
missense_variant,CHRD,MISSENSE,NM_003741.2:p.Met630Leu/c.1888A>C,Atg/Ctg,MODERATE,COSM3759905(3),0.286542,0.3075,rs16858780,1(T),"0.001,0.0,0.0,0.001(B,B,B,B)",-1.24(N),-0.9493(T),,chr3,184103903,184103903,A,C,het,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met630Leu/c.1888A>C|955|CHRD|protein_coding|CODING|NM_003741.2|15|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2474,0.4121,0.1511,0.22,0.32,0.17,,0.000049(N),0.000(P),"1.0,1.0,1.0,1.0(T,T,T,T)",0.0000(T),0.031,-1.208173,4.51,1.11,-0.121000,0.128000,1.032000,0.194000,0.961000,0.993000,5.617
synonymous_variant,EPHB3,SILENT,NM_004443.3:p.Val80Val/c.240G>A,gtG/gtA,LOW,,0.057508,0,rs9862375,,,,,,chr3,184290348,184290348,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val80Val/c.240G>A|998|EPHB3|protein_coding|CODING|NM_004443.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0143,0.072,0.1074,0.09,0.09,0.10,,,,,,,,,,,,,,,,
synonymous_variant,EPHB3,SILENT,NM_004443.3:p.Cys336Cys/c.1008T>C,tgT/tgC,LOW,COSM4002539(1),0.336861,0.1657,rs7652597,,,,,,chr3,184293769,184293769,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys336Cys/c.1008T>C|998|EPHB3|protein_coding|CODING|NM_004443.3|4|1),"GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2485,0.2507,0.3608,0.40,0.53,0.33,,,,,,,,,,,,,,,,
synonymous_variant,EPHB3,SILENT,NM_004443.3:p.Gln845Gln/c.2535G>A,caG/caA,LOW,,0.0660942,0,rs11719912,,,,,,chr3,184298663,184298663,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln845Gln/c.2535G>A|998|EPHB3|protein_coding|CODING|NM_004443.3|13|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0184,0.0735,0.1203,0.10,0.10,0.10,,,,,,,,,,,,,,,,
synonymous_variant,EPHB3,SILENT,NM_004443.3:p.Ser953Ser/c.2859T>C,tcT/tcC,LOW,,0.33147,0.1677,rs1138510,,,,,,chr3,184299167,184299167,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser953Ser/c.2859T>C|998|EPHB3|protein_coding|CODING|NM_004443.3|15|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.2515,0.2435,0.3469,0.39,0.52,0.32,,,,,,,,,,,,,,,,
missense_variant,MAGEF1,MISSENSE,NM_022149.4:p.Glu236Ala/c.707A>C,gAa/gCa,MODERATE,COSM4002541(2),0.556709,0.4365,rs9872799,0.26(T),0.926(D),1.385(L),-0.9797(T),,chr3,184428903,184428903,T,G,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu236Ala/c.707A>C|307|MAGEF1|protein_coding|CODING|NM_022149.4|1|1),"CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,CD4:H4K8ac,HeLa-S3:H3K4me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,GM12878:SP1,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:PU1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5767,0.4986,0.7604,0.67,0.53,0.75,,0.000002(D),1.000(P),3.48(T),0.0000(T),0.101,2.540732,4.49,-0.905,0.528000,-0.213000,1.259000,0.493000,0.000000,0.012000,4.2177
missense_variant,MAGEF1,MISSENSE,NM_022149.4:p.Ala66Ser/c.196G>T,Gcc/Tcc,MODERATE,COSM3759908(3),0.493011,0.4355,rs10937187,0.3(T),0.026(B),0.55(N),-1.0139(T),,chr3,184429414,184429414,C,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala66Ser/c.196G>T|307|MAGEF1|protein_coding|CODING|NM_022149.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,CD4:H2AK9ac,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,IMR90:H4K91ac,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.5644,0.4741,0.7356,0.59,0.35,0.71,,0.254234(N),1.000(P),3.73(T),0.0000(T),0.069,0.797357,3.02,2.1,0.655000,0.581000,1.444000,0.020000,0.019000,0.008000,5.094
synonymous_variant,VPS8,SILENT,NM_001009921.2:p.Leu789Leu/c.2367A>C,ctA/ctC,LOW,COSM4002543(1),0.455072,0.3433,rs4686879,,,,,,chr3,184633247,184633247,A,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu789Leu/c.2367A>C|1428|VPS8|protein_coding|CODING|NM_001009921.2|27|1),synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu787Leu/c.2361A>C|1426|VPS8|protein_coding|CODING|NM_015303.3|27|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4571,0.5432,0.6282,0.58,0.40,0.66,,,,,,,,,,,,,,,,
synonymous_variant,VPS8,SILENT,NM_001009921.2:p.Asp920Asp/c.2760T>C,gaT/gaC,LOW,COSM1130286(1),0.874401,0.9524,rs4643688,,,,,,chr3,184647413,184647413,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp920Asp/c.2760T>C|1428|VPS8|protein_coding|CODING|NM_001009921.2|32|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp918Asp/c.2754T>C|1426|VPS8|protein_coding|CODING|NM_015303.3|32|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9346,0.9135,0.9036,0.86,0.75,0.91,,,,,,,,,,,,,,,,
missense_variant,EHHADH,MISSENSE,NM_001966.3:p.Asn706Ile/c.2117A>T,aAc/aTc,MODERATE,,0.00379393,0,rs56056620,0.09(T),0.787(P),0.805(L),0.0175(D),,chr3,184910069,184910069,T,A,het,"missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn610Ile/c.1829A>T|627|EHHADH|protein_coding|CODING|NM_001166415.1|7|1),missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn706Ile/c.2117A>T|723|EHHADH|protein_coding|CODING|NM_001966.3|7|1),downstream_gene_variant(MODIFIER||326|||EHHADH-AS1||NON_CODING|NR_038990.1||1)","K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.001,0.0058,0.0109,0.00,0.00,0.01,,0.000001(D),1.000(D),"-2.51,-2.51(D,D)",0.5159(D),0.55,3.206428,5.91,4.76,0.533000,1.072000,1.317000,0.757000,0.994000,1.000000,7.7246
synonymous_variant,LIPH,SILENT,NM_139248.2:p.Lys372Lys/c.1116A>G,aaA/aaG,LOW,COSM3759916(2),0.343251,0.2907,rs61730237,,,,,,chr3,185229464,185229464,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys372Lys/c.1116A>G|451|LIPH|protein_coding|CODING|NM_139248.2|9|1),"GM12878:H3K36me3,IMR90:H3K27me3",,,,0.2454,0.3876,0.4493,0.42,0.35,0.45,,,,,,,,,,,,,,,,
missense_variant,DGKG,MISSENSE,NM_001346.2:p.Arg316Lys/c.947G>A,aGa/aAa,MODERATE,COSM1566524(1),0.808906,0.744,rs2193587,1(T),"0.001,0.002,0.002,0.003(B,B,B,B)",-0.86(N),-0.9380(T),,chr3,185990096,185990096,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg316Lys/c.947G>A|766|DGKG|protein_coding|CODING|NM_001080744.1|11|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg316Lys/c.947G>A|752|DGKG|protein_coding|CODING|NM_001080745.1|11|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg316Lys/c.947G>A|791|DGKG|protein_coding|CODING|NM_001346.2|11|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7168,0.8357,0.8002,0.82,0.90,0.79,,0.000002(N),1.000(P),"-3.01,-3.01,-3.01,-3.01,-3.01(D,D,D,D,D)",0.0000(T),0.045,0.359433,5.08,3.92,-1.044000,0.471000,0.838000,0.937000,1.000000,1.000000,8.2693
synonymous_variant,DGKG,SILENT,NM_001346.2:p.Val159Val/c.477A>G,gtA/gtG,LOW,,0.695887,0.7103,rs386607457,,,,,,chr3,186006566,186006566,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val159Val/c.477A>G|766|DGKG|protein_coding|CODING|NM_001080744.1|6|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val159Val/c.477A>G|752|DGKG|protein_coding|CODING|NM_001080745.1|6|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val159Val/c.477A>G|791|DGKG|protein_coding|CODING|NM_001346.2|6|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.681,0.6974,0.6978,0.69,0.69,0.69,,,,,,,,,,,,,,,,
missense_variant,AHSG,MISSENSE,NM_001622.2:p.Met248Thr/c.743T>C,aTg/aCg,MODERATE,COSM4002545(1),0.735423,0.745,rs4917,1(T),"0.0,0.0(B,B)",,-0.9998(T),,chr3,186337713,186337713,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met248Thr/c.743T>C|367|AHSG|protein_coding|CODING|NM_001622.2|6|1),"HUVEC:H3K27me3,HepG2:PolII,HepG2:HEY1,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:Jund",,RCV000017418.1,,0.816,0.5965,0.6759,0.69,0.75,0.65,,0.620018(N),1.000(P),"3.7,3.7(T,T)",0.0000(T),0.049,-1.446053,5.45,-0.913,-0.119000,-0.293000,-0.507000,0.092000,0.013000,0.002000,3.8259
missense_variant,AHSG,MISSENSE,NM_001622.2:p.Ser256Thr/c.767G>C,aGc/aCc,MODERATE,COSM4002546(3),0.713658,0.745,rs4918,0.53(T),"0.0,0.0(B,B)",,-1.0265(T),,chr3,186338382,186338382,G,C,hom,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser256Thr/c.767G>C|367|AHSG|protein_coding|CODING|NM_001622.2|7|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:PolII,HepG2:HEY1,K562:H3K27me3,HepG2:FOSL2,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:Jund",,RCV000017419.1,,0.816,0.5879,0.6759,0.66,0.67,0.65,,0.282849(N),1.000(P),"3.53,3.53(T,T)",0.0000(T),0.056,-0.489521,5.32,-3.06,-1.599000,-1.169000,-0.600000,0.002000,0.000000,0.000000,2.9594
synonymous_variant,AHSG,SILENT,NM_001622.2:p.Thr270Thr/c.810A>C,acA/acC,LOW,,0.814696,0.8383,rs1071592,,,,,,chr3,186338425,186338425,A,C,hom,synonymous_variant(LOW|SILENT|acA/acC|p.Thr270Thr/c.810A>C|367|AHSG|protein_coding|CODING|NM_001622.2|7|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:PolII,HepG2:HEY1,K562:H3K27me3,HepG2:FOSL2,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:Jund",,,,0.8691,0.6614,0.7634,0.78,0.85,0.74,,,,,,,,,,,,,,,,
synonymous_variant,FETUB,SILENT,NM_014375.2:p.Val354Val/c.1062G>T,gtG/gtT,LOW,COSM4157492(1),0.655751,0.746,rs1131364,,,,,,chr3,186370333,186370333,G,T,het,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val354Val/c.1062G>T|382|FETUB|protein_coding|CODING|NM_014375.2|7|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.6207,0.5879,0.4592,0.55,0.73,0.46,,,,,,,,,,,,,,,,
synonymous_variant,HRG,SILENT,NM_000412.3:p.His362His/c.1086T>C,caT/caC,LOW,,0.998403,1,rs7629680,,,,,,chr3,186395180,186395180,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His362His/c.1086T>C|525|HRG|protein_coding|CODING|NM_000412.3|7|1),GM12878:H3K36me3,,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RFC4,SILENT,NM_002916.3:p.Ala266Ala/c.798C>T,gcC/gcT,LOW,COSM1421534(1),0.483826,0.5,rs187868,,,,,,chr3,186509517,186509517,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala266Ala/c.798C>T|363|RFC4|protein_coding|CODING|NM_002916.3|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala266Ala/c.798C>T|363|RFC4|protein_coding|CODING|NM_181573.2|8|1),downstream_gene_variant(MODIFIER||1832||407|EIF4A2|protein_coding|CODING|NM_001967.3||1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5082,0.4942,0.494,0.47,0.46,0.48,,,,,,,,,,,,,,,,
missense_variant,RTP1,MISSENSE,NM_153708.2:p.Gln229Glu/c.685C>G,Cag/Gag,MODERATE,COSM3759920(2),0.427516,0.2837,rs6764714,1(T),0.0(B),0.55(N),-0.9763(T),,chr3,186917751,186917751,C,G,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln229Glu/c.685C>G|263|RTP1|protein_coding|CODING|NM_153708.2|2|1),non_coding_exon_variant(MODIFIER|||n.822G>C||LOC101929106||NON_CODING|NR_110052.1|3|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4683,0.4683,0.5437,0.48,0.40,0.52,,0.003335(N),1.000(P),1.62(T),0.0000(T),0.056,0.557770,5.74,5.74,-0.120000,1.456000,1.717000,0.222000,0.270000,0.883000,12.9927
synonymous_variant,MASP1,SILENT,NM_139125.3:p.Leu617Leu/c.1851G>A,ctG/ctA,LOW,COSM149542(3),0.211861,0.2034,rs386617344,,,,,,chr3,186953808,186953808,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu617Leu/c.1851G>A|728|MASP1|protein_coding|CODING|NM_139125.3|11|1),intron_variant(MODIFIER|||c.1303+5461G>A|699|MASP1|protein_coding|CODING|NM_001879.5|10|1),non_coding_exon_variant(MODIFIER|||n.2009G>A||MASP1||CODING|NR_033519.1|10|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.2352,0.3473,0.3479,0.25,0.07,0.34,,,,,,,,,,,,,,,,
synonymous_variant,MASP1,SILENT,NM_139125.3:p.Pro458Pro/c.1374T>C,ccT/ccC,LOW,,0.952077,1,rs710452,,,,,,chr3,186954285,186954285,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro458Pro/c.1374T>C|728|MASP1|protein_coding|CODING|NM_139125.3|11|1),intron_variant(MODIFIER|||c.1303+4984T>C|699|MASP1|protein_coding|CODING|NM_001879.5|10|1),non_coding_exon_variant(MODIFIER|||n.1532T>C||MASP1||CODING|NR_033519.1|10|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,1,0.9885,1,0.95,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,RTP4,MISSENSE,NM_022147.2:p.Thr79Ile/c.236C>T,aCa/aTa,MODERATE,COSM3759921(2),0.179712,0.0536,rs1047584,0.13(T),0.599(P),1.04(L),-1.0157(T),,chr3,187088656,187088656,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr79Ile/c.236C>T|246|RTP4|protein_coding|CODING|NM_022147.2|2|1),"CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.2055,0.2363,0.2376,0.22,0.19,0.24,,0.110196(N),1.000(P),2.19(T),0.0000(T),0.021,0.497523,3.89,-7.78,-0.793000,-3.035000,-1.121000,0.000000,0.000000,0.000000,0.4251
missense_variant,RTP4,MISSENSE,NM_022147.2:p.Thr131Met/c.392C>T,aCg/aTg,MODERATE,COSM3759922(1),0.384385,0.7351,rs3821812,0.26(T),0.031(B),-0.55(N),-0.9836(T),,chr3,187088812,187088812,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr131Met/c.392C>T|246|RTP4|protein_coding|CODING|NM_022147.2|2|1),"CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.3139,0.4942,0.3469,0.30,0.21,0.35,,0.000148(N),1.000(P),1.94(T),0.0000(T),0.053,-0.489207,3.69,-7.38,-1.834000,-2.845000,-1.461000,0.000000,0.000000,0.000000,3.2926
synonymous_variant,RTP4,SILENT,NM_022147.2:p.Ile161Ile/c.483C>A,atC/atA,LOW,COSM3759923(1),0.384585,0.7351,rs1533595,,,,,,chr3,187088903,187088903,C,A,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile161Ile/c.483C>A|246|RTP4|protein_coding|CODING|NM_022147.2|2|1),"CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.3139,0.4942,0.3469,0.30,0.21,0.35,,,,,,,,,,,,,,,,
missense_variant,RTP4,MISSENSE,NM_022147.2:p.Cys169Tyr/c.506G>A,tGc/tAc,MODERATE,,0.801717,0.9613,rs1533594,1(T),0.0(B),0.205(N),-0.9556(T),,chr3,187088926,187088926,G,A,hom,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys169Tyr/c.506G>A|246|RTP4|protein_coding|CODING|NM_022147.2|2|1),"CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.8384,0.8674,0.8191,0.77,0.68,0.82,,0.000004(N),1.000(P),2.3(T),0.0000(T),0.015,-2.087876,4.08,-8.16,-2.179000,-2.888000,-1.113000,0.000000,0.000000,0.000000,0.759
missense_variant,RTP4,MISSENSE,NM_022147.2:p.Ala204Asp/c.611C>A,gCt/gAt,MODERATE,COSM3759924(1),0.287939,0.4504,rs1003995,0.3(T),0.22(B),0.345(N),-0.9243(T),,chr3,187089031,187089031,C,A,het,missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala204Asp/c.611C>A|246|RTP4|protein_coding|CODING|NM_022147.2|2|1),"CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.2904,0.4524,0.3419,0.26,0.10,0.35,,,1.000(P),2.12(T),0.0000(T),0.072,1.790253,2.56,0.673,0.655000,0.154000,0.841000,0.021000,0.000000,0.002000,3.5252
missense_variant,SST,MISSENSE,NM_001048.3:p.Asn61Thr/c.182A>C,aAc/aCc,MODERATE,,0.00559105,0,rs33934967,0.37(T),0.0(B),-0.345(N),-1.0784(T),,chr3,187387022,187387022,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn61Thr/c.182A>C|116|SST|protein_coding|CODING|NM_001048.3|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0102,0.0072,0.0119,0.01,0.00,0.01,,0.001067(N),0.766(N),1.57(T),0.0188(T),0.056,0.468300,5.51,4.37,0.254000,2.092000,1.859000,0.897000,1.000000,1.000000,2.7286
synonymous_variant,RTP2,SILENT,NM_001004312.2:p.Leu110Leu/c.330G>T,ctG/ctT,LOW,,0.488419,0.7133,rs1973791,,,,,,chr3,187416634,187416634,C,A,hom,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu110Leu/c.330G>T|225|RTP2|protein_coding|CODING|NM_001004312.2|2|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6309,0.5893,0.6362,0.46,0.15,0.61,,,,,,,,,,,,,,,,
missense_variant,RTP2,MISSENSE,NM_001004312.2:p.Gln82Arg/c.245A>G,cAg/cGg,MODERATE,,0.496805,0.7361,rs11707167,0.35(T),0.004(B),1.155(L),-1.0414(T),,chr3,187416719,187416719,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln82Arg/c.245A>G|225|RTP2|protein_coding|CODING|NM_001004312.2|2|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6431,0.5865,0.6402,0.46,0.16,0.62,,0.574026(N),1.000(P),2.46(T),0.0000(T),0.015,-0.623756,4.32,1.92,-1.309000,0.104000,-0.539000,0.003000,0.030000,0.000000,7.772
synonymous_variant,BCL6,SILENT,NM_001130845.1:p.Asn387Asn/c.1161C>T,aaC/aaT,LOW,,0.565296,0.7956,rs1056932,,,,,,chr3,187447032,187447032,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn387Asn/c.1161C>T|706|BCL6|protein_coding|CODING|NM_001130845.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn387Asn/c.1161C>T|650|BCL6|protein_coding|CODING|NM_001134738.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn387Asn/c.1161C>T|706|BCL6|protein_coding|CODING|NM_001706.4|5|1),intron_variant(MODIFIER|||n.294-3127G>A||LOC100131635||NON_CODING|NR_034062.1|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6994,0.7536,0.672,0.50,0.19,0.65,,,,,,,,,,,,,,,,
synonymous_variant,LPP,SILENT,NM_001167671.2:p.Asp314Asp/c.942C>T,gaC/gaT,LOW,,0.586462,0.4355,rs1059380,,,,,,chr3,188327461,188327461,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp314Asp/c.942C>T|612|LPP|protein_coding|CODING|NM_001167671.2|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp314Asp/c.942C>T|612|LPP|protein_coding|CODING|NM_005578.4|6|1),intron_variant(MODIFIER|||c.672+270C>T|465|LPP|protein_coding|CODING|NM_001167672.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5787,0.5591,0.5726,0.63,0.70,0.59,,,,,,,,,,,,,,,,
synonymous_variant,LPP,SILENT,NM_001167671.2:p.Arg535Arg/c.1605A>G,cgA/cgG,LOW,COSM4157499(1),0.400359,0.4345,rs1136644,,,,,,chr3,188590446,188590446,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg535Arg/c.1605A>G|612|LPP|protein_coding|CODING|NM_001167671.2|10|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg388Arg/c.1164A>G|465|LPP|protein_coding|CODING|NM_001167672.2|9|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg535Arg/c.1605A>G|612|LPP|protein_coding|CODING|NM_005578.4|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4274,0.3919,0.5298,0.43,0.28,0.51,,,,,,,,,,,,,,,,
synonymous_variant,LEPREL1,SILENT,NM_018192.3:p.His232His/c.696C>T,caC/caT,LOW,COSM3759930(3),0.161542,0.1577,rs1719600,,,,,,chr3,189712010,189712010,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His51His/c.153C>T|527|LEPREL1|protein_coding|CODING|NM_001134418.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His232His/c.696C>T|708|LEPREL1|protein_coding|CODING|NM_018192.3|3|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.1953,0.1571,0.2763,0.20,0.09,0.26,,,,,,,,,,,,,,,,
synonymous_variant,CLDN1,SILENT,NM_021101.4:p.Gly123Gly/c.369T>C,ggT/ggC,LOW,,0.811102,0.8224,rs9869263,,,,,,chr3,190030680,190030680,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly123Gly/c.369T>C|211|CLDN1|protein_coding|CODING|NM_021101.4|2|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8415,0.8026,0.8579,0.82,0.77,0.85,,,,,,,,,,,,,,,,
missense_variant,GMNC,MISSENSE,NM_001146686.2:p.Ser29Pro/c.85T>C,Tct/Cct,MODERATE,COSM3759934(1),0.444289,0.4484,rs13075089,0.13(T),0.779(P),1.935(M),-0.9659(T),,chr3,190578566,190578566,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser29Pro/c.85T>C|334|GMNC|protein_coding|CODING|NM_001146686.2|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.5348,0.3833,0.4095,0.39,0.38,0.40,,0.018470(N),0.287(P),,0.0000(T),0.281,1.391691,5.41,2.91,0.533000,0.312000,0.748000,0.997000,1.000000,1.000000,8.9669
missense_variant,UTS2B,MISSENSE,NM_198152.3:p.Ser21Ile/c.62G>T,aGt/aTt,MODERATE,COSM149544(1),0.471446,0.5546,rs6788319,0.88(T),0.0(B),-1.87(N),-0.9561(T),,chr3,190999917,190999917,C,A,het,missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser21Ile/c.62G>T|119|UTS2B|protein_coding|CODING|NM_198152.3|5|1),,,,,0.5266,0.585,0.6133,0.49,0.27,0.61,,0.295722(N),1.000(P),"0.97,0.97,1.01(T,T,T)",0.0000(T),0.073,-0.714836,4.91,1.17,-1.002000,-0.102000,0.909000,0.001000,0.000000,0.000000,1.3964
synonymous_variant,CCDC50,SILENT,NM_178335.2:p.Arg76Arg/c.228C>T,cgC/cgT,LOW,,0.267372,0.2579,rs11542549,,,,,,chr3,191075902,191075902,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg76Arg/c.228C>T|306|CCDC50|protein_coding|CODING|NM_174908.3|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg76Arg/c.228C>T|482|CCDC50|protein_coding|CODING|NM_178335.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000041443.1,,0.2239,0.3156,0.332,0.30,0.25,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CCDC50,SILENT,NM_178335.2:p.His217His/c.651T>C,caT/caC,LOW,,0.501997,0.4702,rs2028572,,,,,,chr3,191093053,191093053,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His217His/c.651T>C|482|CCDC50|protein_coding|CODING|NM_178335.2|6|1),intron_variant(MODIFIER|||c.449-4895T>C|306|CCDC50|protein_coding|CODING|NM_174908.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000041446.1,,0.3517,0.4697,0.4105,0.49,0.67,0.40,,,,,,,,,,,,,,,,
missense_variant,CCDC50,MISSENSE,NM_178335.2:p.Ile258Asn/c.773T>A,aTt/aAt,MODERATE,,0.501597,0.4702,rs2028574,0.76(T),0.0(B),,-0.9458(T),,chr3,191093175,191093175,T,A,het,"missense_variant(MODERATE|MISSENSE|aTt/aAt|p.Ile258Asn/c.773T>A|482|CCDC50|protein_coding|CODING|NM_178335.2|6|1),intron_variant(MODIFIER|||c.449-4773T>A|306|CCDC50|protein_coding|CODING|NM_174908.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000041448.1,,0.3517,0.4683,0.4105,0.49,0.67,0.40,,0.156876(N),1.000(P),1.66(T),0.0000(T),0.017,-2.181485,5.48,-3.51,-0.839000,-0.512000,-0.452000,0.042000,0.000000,0.000000,0.2695
missense_variant,CCDC50,MISSENSE,NM_178335.2:p.Lys303Arg/c.908A>G,aAa/aGa,MODERATE,,0.502196,0.4702,rs4677728,1(T),0.025(B),,-0.9504(T),,chr3,191093310,191093310,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys303Arg/c.908A>G|482|CCDC50|protein_coding|CODING|NM_178335.2|6|1),intron_variant(MODIFIER|||c.449-4638A>G|306|CCDC50|protein_coding|CODING|NM_174908.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000041449.1,,0.3517,0.4697,0.4105,0.49,0.67,0.40,,0.125006(N),0.000(P),1.56(T),0.0000(T),0.039,0.545436,5.96,2.32,0.533000,0.168000,1.352000,0.922000,0.992000,0.999000,7.3769
missense_variant,CCDC50,MISSENSE,NM_178335.2:p.Met332Thr/c.995T>C,aTg/aCg,MODERATE,COSM149545(1),0.644569,0.6865,rs293813,0.5(T),"0.001,0.0(B,B)",-0.17(N),-1.0072(T),,chr3,191097966,191097966,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met156Thr/c.467T>C|306|CCDC50|protein_coding|CODING|NM_174908.3|6|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met332Thr/c.995T>C|482|CCDC50|protein_coding|CODING|NM_178335.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000041451.1,,0.5204,0.5764,0.495,0.57,0.79,0.46,,0.874929(N),1.000(P),"1.6,1.59(T,T)",0.0000(T),0.062,-0.368957,5.57,0.585,-1.163000,-0.118000,0.488000,0.001000,0.002000,0.018000,8.5288
synonymous_variant,CCDC50,SILENT,NM_178335.2:p.Ser423Ser/c.1269C>A,tcC/tcA,LOW,,0.644968,0.6865,rs364519,,,,,,chr3,191100561,191100561,C,A,het,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser247Ser/c.741C>A|306|CCDC50|protein_coding|CODING|NM_174908.3|9|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser423Ser/c.1269C>A|482|CCDC50|protein_coding|CODING|NM_178335.2|10|1)","HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,RCV000041441.1,,0.5204,0.5778,0.495,0.57,0.79,0.46,,,,,,,,,,,,,,,,
missense_variant,PYDC2,MISSENSE,NM_001083308.1:p.Gln81Arg/c.242A>G,cAa/cGa,MODERATE,,0.629992,0.4196,rs293833,1(T),0.0(B),,-0.9576(T),,chr3,191179193,191179193,A,G,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln81Arg/c.242A>G|97|PYDC2|protein_coding|CODING|NM_001083308.1|1|1),intron_variant(MODIFIER|||n.81+35800A>G||LINCR-0002||NON_CODING|NR_120606.1|1|1)",,,,,0.5838,0.6268,0.7256,0.75,0.78,0.74,,,1.000(P),0.83(T),0.0000(T),0.015,-2.667632,0.621,-0.631,0.172000,-0.282000,0.934000,0.007000,0.000000,0.149000,.
missense_variant,ATP13A5,MISSENSE,NM_198505.2:p.Val1131Ala/c.3392T>C,gTa/gCa,MODERATE,,0.332268,0.3621,rs2271791,0.31(T),0.008(B),0.695(N),-0.9316(T),,chr3,192994543,192994543,A,G,hom,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val1131Ala/c.3392T>C|1218|ATP13A5|protein_coding|CODING|NM_198505.2|29|1),,,,,0.3712,0.438,0.4881,0.37,0.17,0.47,,0.001341(N),0.000(P),0.67(T),0.0000(T),0.422,2.527006,5.43,5.43,0.533000,2.194000,3.102000,0.934000,1.000000,1.000000,13.7429
missense_variant,ATP13A5,MISSENSE,NM_198505.2:p.Gly739Ser/c.2215G>A,Ggc/Agc,MODERATE,COSM1179815(3),0.530751,0.6508,rs2280268,1(T),0.07(B),0.53(N),-0.9176(T),,chr3,193031926,193031926,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly739Ser/c.2215G>A|1218|ATP13A5|protein_coding|CODING|NM_198505.2|19|1),non_coding_exon_variant(MODIFIER|||n.251C>T||ATP13A5-AS1||NON_CODING|NR_046758.1|2|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.5726,0.5375,0.6382,0.54,0.37,0.63,,0.017935(N),1.000(P),0.44(T),0.0000(T),0.04,2.316653,5.82,3.11,0.655000,0.397000,0.468000,0.991000,0.284000,0.000000,5.3979
synonymous_variant,ATP13A5,SILENT,NM_198505.2:p.Val673Val/c.2019C>G,gtC/gtG,LOW,,0.895966,0.9821,rs6788770,,,,,,chr3,193036794,193036794,G,C,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val673Val/c.2019C>G|1218|ATP13A5|protein_coding|CODING|NM_198505.2|17|1),,,,,0.8763,0.8415,0.8171,0.85,0.91,0.82,,,,,,,,,,,,,,,,
synonymous_variant,ATP13A5,SILENT,NM_198505.2:p.Ser517Ser/c.1551A>G,tcA/tcG,LOW,,0.895367,0.9821,rs11926955,,,,,,chr3,193042776,193042776,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser517Ser/c.1551A>G|1218|ATP13A5|protein_coding|CODING|NM_198505.2|14|1),"GM12878:H3K27me3,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.8742,0.8429,0.8171,0.85,0.91,0.82,,,,,,,,,,,,,,,,
missense_variant,ATP13A5,MISSENSE,NM_198505.2:p.Glu133Gln/c.397G>C,Gaa/Caa,MODERATE,,0.513778,0.3859,rs6797429,0.72(T),0.001(B),-1.1(N),-0.9945(T),,chr3,193080414,193080414,C,G,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu133Gln/c.397G>C|1218|ATP13A5|protein_coding|CODING|NM_198505.2|4|1),,,,,0.4427,0.5259,0.5288,0.55,0.62,0.52,,0.005941(N),1.000(P),"1.75,1.75(T,T)",0.0000(T),0.052,-0.913282,5.6,5.6,-0.120000,1.534000,2.617000,0.069000,0.815000,1.000000,13.3521
missense_variant,ATP13A4,MISSENSE,NM_032279.2:p.Ile181Met/c.543A>G,atA/atG,MODERATE,COSM3759936(2),0.471446,0.4673,rs6788448,0.1(T),"0.981,0.989(D,D)",2.44(M),-0.9352(T),,chr3,193209178,193209178,T,C,het,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile181Met/c.543A>G|1196|ATP13A4|protein_coding|CODING|NM_032279.2|6|1),HUVEC:H3K27me3,,,,0.4581,0.4928,0.3946,0.44,0.52,0.40,,0.000001(D),0.000(P),"-1.2,-1.2,-1.2(T,T,T)",0.0000(T),0.328,3.308038,5.81,4.63,0.482000,0.992000,-0.447000,0.947000,1.000000,0.701000,9.3177
synonymous_variant,ATP13A4,SILENT,NM_032279.2:p.Leu157Leu/c.471T>C,ctT/ctC,LOW,COSM3759938(1),0.527356,0.5476,rs2130407,,,,,,chr3,193210768,193210768,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu157Leu/c.471T>C|1196|ATP13A4|protein_coding|CODING|NM_032279.2|5|1),,,,,0.4755,0.5029,0.4036,0.48,0.61,0.41,,,,,,,,,,,,,,,,
missense_variant,CPN2,MISSENSE,NM_001291988.1:p.Gln509Arg/c.1526A>G,cAg/cGg,MODERATE,,0.810503,0.8145,rs4974538,1(T),0.0(B),-0.895(N),-0.9593(T),,chr3,194061906,194061906,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln509Arg/c.1526A>G|545|CPN2|protein_coding|CODING|NM_001291988.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln509Arg/c.1526A>G|545|CPN2|protein_coding|CODING|NM_001080513.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:USF1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.7065,0.8357,0.8171,0.83,0.85,0.82,,,1.000(P),"0.84,0.84(T,T)",0.0000(T),0.091,-2.569536,5.41,2.61,-0.735000,0.076000,0.671000,0.009000,0.005000,0.036000,2.1464
synonymous_variant,CPN2,SILENT,NM_001291988.1:p.Pro44Pro/c.132A>G,ccA/ccG,LOW,,0.776957,0.7857,rs62288099,,,,,,chr3,194063300,194063300,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro44Pro/c.132A>G|545|CPN2|protein_coding|CODING|NM_001291988.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro44Pro/c.132A>G|545|CPN2|protein_coding|CODING|NM_001080513.3|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.7065,0.6931,0.8201,0.82,0.82,0.82,,,,,,,,,,,,,,,,
synonymous_variant,LRRC15,SILENT,NM_001135057.2:p.Pro485Pro/c.1455C>T,ccC/ccT,LOW,COSM1178304(2),0.14976,0.0685,rs4974533,,,,,,chr3,194080336,194080336,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro485Pro/c.1455C>T|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro479Pro/c.1437C>T|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1237,0.1398,0.2425,0.23,0.17,0.26,,,,,,,,,,,,,,,,
synonymous_variant,LRRC15,SILENT,NM_001135057.2:p.Asn381Asn/c.1143C>T,aaC/aaT,LOW,COSM3759943(1),0.147165,0.0685,rs9682540,,,,,,chr3,194080648,194080648,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn381Asn/c.1143C>T|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn375Asn/c.1125C>T|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1237,0.1398,0.2416,0.23,0.17,0.26,,,,,,,,,,,,,,,,
synonymous_variant,LRRC15,SILENT,NM_001135057.2:p.Asn365Asn/c.1095C>T,aaC/aaT,LOW,COSM3759944(1),0.116214,0.0685,rs9682541,,,,,,chr3,194080696,194080696,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn365Asn/c.1095C>T|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn359Asn/c.1077C>T|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1074,0.1052,0.2107,0.19,0.10,0.23,,,,,,,,,,,,,,,,
missense_variant,LRRC15,MISSENSE,NM_001135057.2:p.Pro292Leu/c.875C>T,cCg/cTg,MODERATE,COSM3759947(1),0.116813,0.0685,rs13070515,0.18(T),"0.948,0.977(D,D)",2.355(M),-1.1022(T),,chr3,194080916,194080916,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro292Leu/c.875C>T|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro286Leu/c.857C>T|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1104,0.1052,0.2107,0.19,0.10,0.23,,,0.000(P),"2.83,2.83,2.83(T,T,T)",0.0000(T),0.391,3.868769,5.15,5.15,0.655000,2.566000,6.486000,0.931000,0.500000,1.000000,15.3756
missense_variant,LRRC15,MISSENSE,NM_001135057.2:p.Val270Ile/c.808G>A,Gtc/Atc,MODERATE,,0.157548,0.0685,rs13060627,0.64(T),"0.001,0.0(B,B)",0.58(N),-0.9559(T),,chr3,194080983,194080983,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val270Ile/c.808G>A|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val264Ile/c.790G>A|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1278,0.1412,0.2406,0.24,0.20,0.26,,,1.000(P),"1.86,1.86,1.86(T,T,T)",0.0000(T),0.045,-1.229135,5.15,3.91,-0.254000,0.913000,0.776000,0.667000,1.000000,1.000000,6.8945
synonymous_variant,LRRC15,SILENT,NM_001135057.2:p.Leu234Leu/c.702G>A,ctG/ctA,LOW,,0.147364,0.0685,rs11713861,,,,,,chr3,194081089,194081089,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu234Leu/c.702G>A|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu228Leu/c.684G>A|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1237,0.1398,0.2416,0.23,0.17,0.26,,,,,,,,,,,,,,,,
synonymous_variant,LRRC15,SILENT,NM_001135057.2:p.Asn204Asn/c.612C>T,aaC/aaT,LOW,COSM3759951(1),0.116613,0.0685,rs11715737,,,,,,chr3,194081179,194081179,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn204Asn/c.612C>T|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn198Asn/c.594C>T|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1094,0.1052,0.2107,0.19,0.10,0.23,,,,,,,,,,,,,,,,
synonymous_variant,LRRC15,SILENT,NM_001135057.2:p.Leu133Leu/c.399C>T,ctC/ctT,LOW,,0.116414,0.0685,rs923936,,,,,,chr3,194081392,194081392,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu133Leu/c.399C>T|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu127Leu/c.381C>T|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1094,0.1052,0.2097,0.19,0.10,0.23,,,,,,,,,,,,,,,,
synonymous_variant,LRRC15,SILENT,NM_001135057.2:p.Ala52Ala/c.156A>G,gcA/gcG,LOW,COSM3759952(1),0.147165,0.0685,rs923935,,,,,,chr3,194081635,194081635,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala52Ala/c.156A>G|587|LRRC15|protein_coding|CODING|NM_001135057.2|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala46Ala/c.138A>G|581|LRRC15|protein_coding|CODING|NM_130830.4|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1237,0.1398,0.2416,0.23,0.17,0.26,,,,,,,,,,,,,,,,
synonymous_variant,GP5,SILENT,NM_004488.2:p.Leu46Leu/c.138A>G,ctA/ctG,LOW,COSM3759957(5),0.989816,1,rs1223989,,,,,,chr3,194118874,194118874,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu46Leu/c.138A>G|560|GP5|protein_coding|CODING|NM_004488.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9959,0.9942,0.9642,0.97,0.99,0.95,,,,,,,,,,,,,,,,
missense_variant,TMEM44,MISSENSE,NM_001166305.1:p.Gln284Arg/c.851A>G,cAg/cGg,MODERATE,,0.888578,0.8958,rs922282,1(T),"0.0,0.001,0.0,0.0,0.0(B,B,B,B,B)",-1.935(N),-0.9953(T),,chr3,194337901,194337901,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln237Arg/c.710A>G|428|TMEM44|protein_coding|CODING|NM_001011655.2|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln284Arg/c.851A>G|475|TMEM44|protein_coding|CODING|NM_001166305.1|7|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln237Arg/c.710A>G|396|TMEM44|protein_coding|CODING|NM_001166306.1|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln237Arg/c.710A>G|438|TMEM44|protein_coding|CODING|NM_138399.4|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.956,0.8905,0.8479,0.87,0.88,0.87,,0.017491(N),0.000(P),"1.95,1.95,1.95,1.95,1.95(T,T,T,T,T)",0.0000(T),0.029,-0.515339,5.34,2.57,-0.119000,0.262000,-1.307000,0.903000,0.439000,0.048000,7.8923
missense_variant,TMEM44,MISSENSE,NM_001166305.1:p.His24Asn/c.70C>A,Cac/Aac,MODERATE,COSM3759958(3),0.363618,0.2619,rs1675955,0.49(T),"0.073,0.382,0.08,0.107,0.051(B,B,B,B,B)",1.61(L),-0.9048(T),,chr3,194353875,194353875,G,T,het,"missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His24Asn/c.70C>A|428|TMEM44|protein_coding|CODING|NM_001011655.2|1|1),missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His24Asn/c.70C>A|475|TMEM44|protein_coding|CODING|NM_001166305.1|1|1),missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His24Asn/c.70C>A|396|TMEM44|protein_coding|CODING|NM_001166306.1|1|1),missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His24Asn/c.70C>A|438|TMEM44|protein_coding|CODING|NM_138399.4|1|1)","K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.3763,0.3127,0.4771,0.44,0.38,0.46,,0.107322(N),0.000(P),"1.98,1.59,1.59,1.57,1.59(T,T,T,T,T)",0.0000(T),0.105,3.328680,3.74,2.81,0.467000,1.918000,2.517000,0.990000,1.000000,1.000000,8.235
missense_variant,LSG1,MISSENSE,NM_018385.2:p.Lys267Glu/c.799A>G,Aag/Gag,MODERATE,,0.634585,0.8651,rs1675953,1(T),0.0(B),-1.385(N),-0.9522(T),,chr3,194373832,194373832,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys267Glu/c.799A>G|658|LSG1|protein_coding|CODING|NM_018385.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7474,0.6297,0.7038,0.59,0.40,0.68,,0.618622(N),1.000(P),0.98(T),0.0000(T),0.051,-0.280053,4.34,4.34,-0.119000,1.431000,0.516000,0.015000,0.015000,0.011000,8.5768
synonymous_variant,LSG1,SILENT,NM_018385.2:p.Thr266Thr/c.798C>T,acC/acT,LOW,,0.634185,0.8651,rs1705991,,,,,,chr3,194373833,194373833,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr266Thr/c.798C>T|658|LSG1|protein_coding|CODING|NM_018385.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7454,0.6297,0.7038,0.59,0.40,0.68,,,,,,,,,,,,,,,,
missense_variant,LSG1,MISSENSE,NM_018385.2:p.Thr65Ala/c.193A>G,Act/Gct,MODERATE,,,,rs149914132,0.01(D),0.666(P),3.205(M),-0.5882(T),,chr3,194390771,194390771,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr65Ala/c.193A>G|658|LSG1|protein_coding|CODING|NM_018385.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.000006(D),1.000(D),0.93(T),0.2264(T),0.467,3.739068,5.08,3.91,0.528000,0.762000,4.524000,0.995000,0.993000,1.000000,10.0676
missense_variant,MUC20,MISSENSE,NM_001282506.1:p.Cys3Ser/c.8G>C,tGt/tCt,MODERATE,COSM4157519(3),,,rs7627924,0.88(T),0.0(B),-0.895(N),-0.9398(T),,chr3,195447886,195447886,G,C,het,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys3Ser/c.8G>C|709|MUC20|protein_coding|CODING|NM_001282506.1|1|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys3Ser/c.8G>C|538|MUC20|protein_coding|CODING|NM_001291833.1|1|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys3Ser/c.8G>C|557|MUC20|protein_coding|CODING|NM_020790.1|1|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys3Ser/c.8G>C|538|MUC20|protein_coding|CODING|NM_152673.3|1|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,0.902(N),"3.25,3.17,3.43(T,T,T)",0.0062(T),0.033,-1.939315,2.77,-1.33,-1.311000,-0.737000,-1.875000,0.514000,0.484000,0.000000,4.0122
missense_variant,MUC20,MISSENSE,NM_001282506.1:p.Arg136Gly/c.406A>G,Agg/Ggg,MODERATE,,0.755391,0.8472,rs142096782,0.36(T),0.0(B),0(N),-1.0323(T),,chr3,195451880,195451880,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg136Gly/c.406A>G|538|MUC20|protein_coding|CODING|NM_001291833.1|2|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg136Gly/c.406A>G|557|MUC20|protein_coding|CODING|NM_020790.1|2|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg136Gly/c.406A>G|538|MUC20|protein_coding|CODING|NM_152673.3|2|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg136Gly/c.406A>G|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7045,0.7248,0.8539,,,,,0.003021(N),1.000(P),"2.88,2.88,3.04,2.45(T,T,T,T)",0.0198(T),0.214,0.346348,4.51,-3.39,-2.438000,-1.793000,-0.670000,0.000000,0.000000,0.000000,3.0488
missense_variant,MUC20,MISSENSE,NM_001282506.1:p.Arg136Lys/c.407G>A,aGg/aAg,MODERATE,,0.780551,0.8512,rs146888306,0.45(T),0.0(B),-0.345(N),-0.9875(T),,chr3,195451881,195451881,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg136Lys/c.407G>A|538|MUC20|protein_coding|CODING|NM_001291833.1|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg136Lys/c.407G>A|557|MUC20|protein_coding|CODING|NM_020790.1|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg136Lys/c.407G>A|538|MUC20|protein_coding|CODING|NM_152673.3|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg136Lys/c.407G>A|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7188,0.7305,0.8539,,,,,0.003021(N),1.000(P),"2.92,2.93,3.09,2.49(T,T,T,T)",0.0115(T),0.09,-0.456064,4.52,-9.05,-1.480000,-3.226000,-3.181000,0.000000,0.000000,0.000000,1.1982
splice_acceptor_variant,MUC20,protein_coding,NM_152673.3:c.682C>G,,HIGH,COSM3847063(3),0.234824,0.3294,rs201581458,,,,,MUC20:0.25(4);,chr3,195452668,195452668,C,G,het,"splice_acceptor_variant(HIGH|||c.682C>G|538|MUC20|protein_coding|CODING|NM_152673.3|4|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro398Pro/c.1194C>G|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro227Pro/c.681C>G|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro246Pro/c.738C>G|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),intron_variant(MODIFIER|||c.682-1C>G|538|MUC20|protein_coding|CODING|NM_152673.3|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1309,0.2233,0.1988,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC20,SILENT,NM_001282506.1:p.Asp405Asp/c.1215C>T,gaC/gaT,LOW,COSM446211(3),,,rs141077164,,,,,,chr3,195452689,195452689,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp405Asp/c.1215C>T|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp234Asp/c.702C>T|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp253Asp/c.759C>T|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp234Asp/c.702C>T|538|MUC20|protein_coding|CODING|NM_152673.3|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC20,SILENT,NM_001282506.1:p.Thr432Thr/c.1296G>A,acG/acA,LOW,COSM4002560(2),,,rs2550231,,,,,,chr3,195452770,195452770,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr432Thr/c.1296G>A|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr261Thr/c.783G>A|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr280Thr/c.840G>A|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr261Thr/c.783G>A|538|MUC20|protein_coding|CODING|NM_152673.3|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC20,MISSENSE,NM_001282506.1:p.Thr442Ile/c.1325C>T,aCa/aTa,MODERATE,COSM149548(2),,,rs2550232,0.62(T),0.009(B),0.11(N),-0.9949(T),,chr3,195452799,195452799,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr442Ile/c.1325C>T|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr271Ile/c.812C>T|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr290Ile/c.869C>T|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr271Ile/c.812C>T|538|MUC20|protein_coding|CODING|NM_152673.3|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.144951(N),1.000(P),"2.99,2.99,3.16,2.57(T,T,T,T)",0.0171(T),0.096,0.259635,4.27,-2.63,-0.291000,-0.731000,-0.576000,0.001000,0.000000,0.000000,5.5723
missense_variant,MUC20,MISSENSE,NM_001282506.1:p.Asp493His/c.1477G>C,Gat/Cat,MODERATE,COSM446212(2),,,rs2688542,0.2(T),0.642(P),0.895(L),-0.9523(T),,chr3,195452951,195452951,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp493His/c.1477G>C|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp322His/c.964G>C|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp341His/c.1021G>C|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp322His/c.964G>C|538|MUC20|protein_coding|CODING|NM_152673.3|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.290924(N),1.000(P),"2.51,2.58,2.67,2.07(T,T,T,T)",0.0000(T),0.177,0.909135,3.94,2.12,0.514000,0.428000,0.431000,0.052000,0.002000,0.001000,5.8281
synonymous_variant,MUC20,SILENT,NM_001282506.1:p.Leu530Leu/c.1590T>G,ctT/ctG,LOW,,,,rs2550233,,,,,,chr3,195453064,195453064,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu530Leu/c.1590T>G|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu359Leu/c.1077T>G|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu378Leu/c.1134T>G|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu359Leu/c.1077T>G|538|MUC20|protein_coding|CODING|NM_152673.3|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.88,0.97,0.84,,,,,,,,,,,,,,,,
missense_variant,MUC20,MISSENSE,NM_001282506.1:p.Pro590Leu/c.1769C>T,cCg/cTg,MODERATE,COSM3759968(3),,,rs3828408,0.26(T),0.016(B),0(N),-0.9216(T),,chr3,195453243,195453243,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro590Leu/c.1769C>T|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro419Leu/c.1256C>T|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro438Leu/c.1313C>T|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro419Leu/c.1256C>T|538|MUC20|protein_coding|CODING|NM_152673.3|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.992892(N),1.000(P),"3.19,3.15,3.36,2.78(T,T,T,T)",0.0000(T),0.183,1.779655,4.69,-1.57,0.558000,-0.224000,0.258000,0.002000,0.000000,0.087000,9.428
missense_variant,MUC20,MISSENSE,NM_001282506.1:p.Ala595Thr/c.1783G>A,Gca/Aca,MODERATE,COSM3759970(4),,,rs3828406,1(T),0.0(B),-1.04(N),-0.9309(T),,chr3,195453257,195453257,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala595Thr/c.1783G>A|709|MUC20|protein_coding|CODING|NM_001282506.1|2|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala424Thr/c.1270G>A|538|MUC20|protein_coding|CODING|NM_001291833.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala443Thr/c.1327G>A|557|MUC20|protein_coding|CODING|NM_020790.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala424Thr/c.1270G>A|538|MUC20|protein_coding|CODING|NM_152673.3|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.33,0.30,0.35,,0.672700(N),1.000(P),"3.1,3.04,3.26,2.69(T,T,T,T)",0.0000(T),0.304,-0.452224,4.48,4.48,-0.375000,0.859000,1.433000,0.001000,0.001000,0.001000,7.0355
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Ala5376Val/c.16127C>T,gCc/gTc,MODERATE,,0.123003,0.0466,rs62284986,0.01(D),"0.584,0.058,0.058,0.026,0.026,0.058(P,B,B,B,B,B)",2.125(M),-1.0750(T),,chr3,195474159,195474159,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala1140Val/c.3419C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|24|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala5376Val/c.16127C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|25|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala1089Val/c.3266C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|23|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1544,0.0994,0.1938,0.16,0.11,0.19,,0.257648(N),1.000(P),"0.72,1.07,1.15,1.13(T,T,T,T)",0.0002(T),0.232,2.445671,5.14,4.26,0.543000,1.171000,4.549000,0.580000,0.141000,0.942000,9.2366
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Ile5280Ile/c.15840C>T,atC/atT,LOW,,0.40615,0.7679,rs2291652,,,,,,chr3,195477791,195477791,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile1044Ile/c.3132C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|22|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile5280Ile/c.15840C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|23|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile993Ile/c.2979C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|21|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4141,0.4179,0.4583,0.35,0.15,0.45,,,,,,,,,,,,,,,,
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Glu5190Glu/c.15570A>G,gaA/gaG,LOW,COSM4157528(1),0.812101,0.8234,rs2258447,,,,,,chr3,195479256,195479256,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu954Glu/c.2862A>G|1176|MUC4|protein_coding|CODING|NM_004532.5|20|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu5190Glu/c.15570A>G|5412|MUC4|protein_coding|CODING|NM_018406.6|21|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu903Glu/c.2709A>G|1125|MUC4|protein_coding|CODING|NM_138297.4|19|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.816,0.9265,0.9264,0.84,0.68,0.92,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Ala4821Ser/c.14461G>T,Gcc/Tcc,MODERATE,COSM4157536(2),0.63099,0.8125,rs2246901,0.1(T),"0.996,0.477,0.72,0.656,0.656,0.627(D,P,P,P,P,P)",2.375(M),-0.9783(T),,chr3,195489009,195489009,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala585Ser/c.1753G>T|1176|MUC4|protein_coding|CODING|NM_004532.5|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala4821Ser/c.14461G>T|5412|MUC4|protein_coding|CODING|NM_018406.6|14|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala534Ser/c.1600G>T|1125|MUC4|protein_coding|CODING|NM_138297.4|12|1)","HUVEC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5941,0.5793,0.7147,0.64,0.50,0.71,,0.009839(N),1.000(P),"0.18,0.18,0.18,0.18(T,T,T,T)",0.0000(T),0.341,1.583846,4.97,3.05,0.561000,1.085000,-0.496000,0.050000,0.439000,0.000000,7.0078
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Ser4801Ser/c.14403G>C,tcG/tcC,LOW,COSM1421869(1),0.424321,0.7599,rs2246980,,,,,,chr3,195489067,195489067,C,G,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser565Ser/c.1695G>C|1176|MUC4|protein_coding|CODING|NM_004532.5|13|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser4801Ser/c.14403G>C|5412|MUC4|protein_coding|CODING|NM_018406.6|14|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser514Ser/c.1542G>C|1125|MUC4|protein_coding|CODING|NM_138297.4|12|1)","HUVEC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4243,0.415,0.4533,0.37,0.21,0.46,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Asn4502Lys/c.13506C>G,aaC/aaG,MODERATE,,0.428714,0.7659,rs2550240,0.62(T),"0.829,0.081,0.033,0.033(P,B,B,B)",2.24(M),-0.9060(T),,chr3,195495916,195495916,G,C,het,"missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn266Lys/c.798C>G|1176|MUC4|protein_coding|CODING|NM_004532.5|6|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn4502Lys/c.13506C>G|5412|MUC4|protein_coding|CODING|NM_018406.6|7|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn215Lys/c.645C>G|1125|MUC4|protein_coding|CODING|NM_138297.4|5|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4264,0.438,0.4423,0.36,0.21,0.44,,0.172932(N),1.000(P),"-0.62,-0.62,-0.62,-0.62(T,T,T,T)",0.0000(T),0.214,0.426881,5.5,3.37,0.540000,1.349000,0.759000,0.019000,0.130000,0.001000,9.3513
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Met4437Ile/c.13311G>C,atG/atC,MODERATE,,0.828275,0.8175,rs2259102,0.24(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.345(N),-1.0599(T),,chr3,195497174,195497174,C,G,hom,"missense_variant(MODERATE|MISSENSE|atG/atC|p.Met201Ile/c.603G>C|1176|MUC4|protein_coding|CODING|NM_004532.5|5|1),missense_variant(MODERATE|MISSENSE|atG/atC|p.Met4437Ile/c.13311G>C|5412|MUC4|protein_coding|CODING|NM_018406.6|6|1),missense_variant(MODERATE|MISSENSE|atG/atC|p.Met150Ile/c.450G>C|1125|MUC4|protein_coding|CODING|NM_138297.4|4|1)","H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.684,0.7118,0.8439,0.87,0.96,0.82,,0.244440(N),1.000(P),"1.24,1.61,1.56(T,T,T)",0.0000(T),0.085,0.578731,4.9,-1.59,-0.809000,-0.593000,-0.959000,0.022000,0.000000,0.000000,2.1549
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Gly4324Asp/c.12971G>A,gGc/gAc,MODERATE,COSM3759974(1),0.586262,0.7609,rs2259292,0.6(T),"0.125,0.012,0.012,0.012(B,B,B,B)",0.14(N),-0.9345(T),,chr3,195501149,195501149,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly88Asp/c.263G>A|1176|MUC4|protein_coding|CODING|NM_004532.5|3|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly4324Asp/c.12971G>A|5412|MUC4|protein_coding|CODING|NM_018406.6|4|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly37Asp/c.110G>A|1125|MUC4|protein_coding|CODING|NM_138297.4|2|1)",HepG2:H3K27me3,,,,0.5102,0.5058,0.5805,0.58,0.59,0.58,,0.097910(N),1.000(P),"1.19,1.57,1.54,1.55(T,T,T,T)",0.0000(T),0.42,1.281055,4.55,-2.14,0.638000,-0.309000,-2.510000,0.001000,0.000000,0.000000,0.1989
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Pro4263Ser/c.12787C>T,Cca/Tca,MODERATE,COSM4005331(1),0.789537,0.8115,rs2688513,1(T),0.009(B),,-0.9823(T),,chr3,195505664,195505664,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro4263Ser/c.12787C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-4488C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-338C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5368,0.6599,0.837,0.87,0.97,0.83,,0.403735(N),1.000(P),"1.56,1.57(T,T)",0.0000(T),0.194,-0.709447,2.84,0.274,-0.368000,-0.249000,0.153000,0.009000,0.018000,0.617000,3.5618
missense_variant,MUC4,MISSENSE,NM_018406.6:p.His4221Gln/c.12663C>G,caC/caG,MODERATE,COSM3774057(1),0.143371,0.2044,,,0.001(B),0(N),-1.0590(T),,chr3,195505788,195505788,G,C,het,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His4221Gln/c.12663C>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-4612C>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-462C>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1442,0.1499,0.1531,,,,,,1.000(P),"1.57,1.55(T,T)",0.0263(T),0.051,-1.042067,1.25,-2.51,-1.904000,-3.693000,-1.112000,0.001000,0.000000,0.000000,0.3857
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Ala4206Thr/c.12616G>A,Gcc/Acc,MODERATE,COSM149551(7),,,rs58500707,,0.359(B),0.55(N),-1.0595(T),,chr3,195505835,195505835,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala4206Thr/c.12616G>A|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-4659G>A|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-509G>A|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"1.55,1.49(T,T)",0.0416(T),0.05,-0.018446,.,.,0.074000,0.452000,.,0.044000,0.020000,.,.
missense_variant,MUC4,MISSENSE,NM_018406.6:p.His4205Asp/c.12613C>G,Cac/Gac,MODERATE,COSM1131507(6),,,rs59101491,,0.1(B),0.55(N),-1.0139(T),,chr3,195505838,195505838,G,C,het,"missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His4205Asp/c.12613C>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-4662C>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-512C>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"1.58,1.6(T,T)",0.0401(T),0.071,-0.738678,.,.,0.074000,0.452000,.,0.048000,0.017000,.,.
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Ile2089Val/c.6265A>G,Ata/Gta,MODERATE,,1,1,rs202060675,,0.047(B),0(N),-1.0256(T),,chr3,195512186,195512186,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile2089Val/c.6265A>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11010A>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6860A>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,1.000(P),"1.47,1.47(T,T)",0.0259(T),0.086,-0.982034,.,.,-2.075000,-2.094000,.,0.051000,0.044000,.,3.9397
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Pro2080His/c.6239C>A,cCt/cAt,MODERATE,COSM149601(3),,,rs75588776,,0.002(B),0(N),-1.0034(T),,chr3,195512212,195512212,G,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro2080His/c.6239C>A|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11036C>A|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6886C>A|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"1.43,1.45(T,T)",0.0280(T),0.118,-0.088623,.,.,0.064000,0.064000,0.024000,0.070000,0.053000,0.000000,2.8356
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Ser2072Ser/c.6216A>G,tcA/tcG,LOW,COSM4157798(3),,,rs62282484,,,,,,chr3,195512235,195512235,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser2072Ser/c.6216A>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11059A>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6909A>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Pro2070Leu/c.6209C>T,cCt/cTt,MODERATE,COSM2946004(1),0.0061901,0.003,,,0.001(B),0(N),-1.0027(T),,chr3,195512242,195512242,G,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro2070Leu/c.6209C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11066C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6916C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0058,0.0099,,,,,,1.000(N),"1.63,1.67(T,T)",0.0280(T),0.099,-0.261597,.,.,0.064000,-0.833000,-0.008000,0.011000,0.004000,0.004000,.
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Pro2070Ala/c.6208C>G,Cct/Gct,MODERATE,COSM4157800(1),0.0061901,0.003,rs62282485,,0.0(B),0(N),-1.0205(T),,chr3,195512243,195512243,G,C,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro2070Ala/c.6208C>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11067C>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6917C>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0058,0.0099,,,,,,1.000(N),"1.67,1.66(T,T)",0.0247(T),0.121,-0.295922,.,.,-2.366000,-2.090000,-0.719000,0.007000,0.004000,0.003000,.
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Asn2069Ser/c.6206A>G,aAc/aGc,MODERATE,COSM4157802(1),,,rs62282486,,0.292(B),0(N),-1.0372(T),,chr3,195512245,195512245,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn2069Ser/c.6206A>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11069A>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6919A>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(P),"1.4,1.45(T,T)",0.0000(T),0.033,0.086935,.,.,0.055000,0.408000,0.103000,0.006000,0.006000,0.002000,.
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Thr2068Thr/c.6204T>C,acT/acC,LOW,COSM4157803(1),,,rs62282487,,,,,,chr3,195512247,195512247,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr2068Thr/c.6204T>C|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11071T>C|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6921T>C|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Pro2064Arg/c.6191C>G,cCt/cGt,MODERATE,COSM4157806(1),0.0061901,0.003,,,0.093(B),0.55(N),-1.0603(T),,chr3,195512260,195512260,G,C,het,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro2064Arg/c.6191C>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11084C>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6934C>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0058,0.0099,,,,,,1.000(N),"1.38,1.4(T,T)",0.0356(T),0.134,-0.420804,.,.,0.064000,0.488000,0.292000,0.016000,0.004000,0.003000,3.4513
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Thr2063Thr/c.6189G>C,acG/acC,LOW,COSM1566488(2),,,rs199610666,,,,,,chr3,195512262,195512262,C,G,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr2063Thr/c.6189G>C|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11086G>C|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6936G>C|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Ser2055Phe/c.6164C>T,tCc/tTc,MODERATE,COSM3774089(3),,,rs113602668,,0.04(B),0.55(N),-1.0426(T),,chr3,195512287,195512287,G,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser2055Phe/c.6164C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-11111C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-6961C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"1.43,1.43(T,T)",0.0340(T),0.096,0.200645,.,.,0.064000,0.488000,.,0.014000,0.002000,.,.
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Tyr981Asp/c.2941T>G,Tac/Gac,MODERATE,,0.00479233,0,rs147508192,0.5(T),0.053(B),0.345(N),-1.0576(T),,chr3,195515510,195515510,A,C,het,"missense_variant(MODERATE|MISSENSE|Tac/Gac|p.Tyr981Asp/c.2941T>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-14334T>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-10184T>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,GM12878:H3K36me3,CD4:H3K27ac,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,CD4:H3K4ac,CD4:H4K20me3,HepG2:H3K27me3",,,,0.001,0.0101,0.0139,,,,,0.000003(U),1.000(N),"1.56,1.55(T,T)",0.0296(T),0.077,0.313557,.,.,0.300000,0.306000,-3.064000,0.115000,0.008000,0.000000,4.9257
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Gly961Gly/c.2883G>A,ggG/ggA,LOW,,0.198882,0.0516,rs62282504,,,,,,chr3,195515568,195515568,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly961Gly/c.2883G>A|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-14392G>A|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-10242G>A|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,GM12878:H3K36me3,CD4:H3K27ac,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,CD4:H3K4ac,HepG2:H3K27me3",,,,0.1503,0.1484,0.2584,0.25,0.28,0.23,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Glu953Gln/c.2857G>C,Gag/Cag,MODERATE,,0.720847,0.8274,rs13095016,0.62(T),0.492(P),,-0.8560(T),,chr3,195515594,195515594,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu953Gln/c.2857G>C|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-14418G>C|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-10268G>C|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,GM12878:H3K36me3,CD4:H3K27ac,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,CD4:H3K4ac,HepG2:H3K27me3",,,,0.6575,0.6758,0.8519,0.77,0.66,0.83,,0.001088(N),1.000(P),"1.63,1.61(T,T)",0.0000(T),0.031,0.551119,2.78,-2.59,0.579000,-0.511000,-3.147000,0.176000,0.000000,0.000000,1.0344
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Thr945Ser/c.2834C>G,aCt/aGt,MODERATE,COSM4157921(1),0.922125,0.8254,rs2641776,0.93(T),0.004(B),,-0.9989(T),,chr3,195515617,195515617,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr945Ser/c.2834C>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-14441C>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-10291C>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H3K18ac,CD4:H4K91ac,GM12878:H3K36me3,CD4:H3K27ac,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,CD4:H3K4ac,HepG2:H3K27me3",,,,0.8609,0.9697,0.9453,0.96,0.99,0.94,,0.058330(N),1.000(P),"1.79,1.77(T,T)",0.0000(T),0.028,-0.277468,2.78,-5.56,-1.401000,-2.853000,-3.553000,0.002000,0.000000,0.000000,8.8189
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Ala716Thr/c.2146G>A,Gca/Aca,MODERATE,,0.113618,0.0456,rs3749331,0.87(T),"0.009,0.001(B,B)",1.15(L),-0.9920(T),,chr3,195516305,195516305,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala716Thr/c.2146G>A|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-15129G>A|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-10979G>A|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H4K91ac,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1299,0.0922,0.173,0.15,0.11,0.17,,0.022697(N),1.000(P),"0.79,0.8(T,T)",0.0002(T),0.06,-0.313408,2.61,-5.21,-0.273000,-3.912000,-3.260000,0.004000,0.000000,0.000000,1.2702
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Ser607Ser/c.1821C>A,tcC/tcA,LOW,,0.82528,0.8155,rs3103954,,,,,,chr3,195516630,195516630,G,T,hom,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser607Ser/c.1821C>A|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-15454C>A|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-11304C>A|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H4K91ac,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6861,0.6902,0.841,0.87,0.97,0.83,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Thr525Ala/c.1573A>G,Aca/Gca,MODERATE,,0.772165,0.8155,rs2177336,1(T),0.009(B),,-0.9634(T),,chr3,195516878,195516878,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr525Ala/c.1573A>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-15702A>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-11552A>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6789,0.6787,0.84,0.82,0.82,0.82,,0.000146(N),1.000(P),"1.83,1.8(T,T)",0.0000(T),0.04,-0.070489,1.8,-2.77,0.434000,-0.519000,-3.870000,0.012000,0.000000,0.000000,2.6995
synonymous_variant,MUC4,SILENT,NM_018406.6:p.Leu443Leu/c.1327C>T,Cta/Tta,LOW,,0.127196,0.0456,rs1806440,,,,,,chr3,195517124,195517124,G,A,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu443Leu/c.1327C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-15948C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-11798C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1319,0.0951,0.173,0.16,0.14,0.17,,,,,,,,,,,,,,,,
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Thr398Ile/c.1193C>T,aCc/aTc,MODERATE,COSM149620(1),0.772364,0.8165,rs1106502,0.41(T),0.031(B),,-0.9986(T),,chr3,195517258,195517258,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr398Ile/c.1193C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-16082C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-11932C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H3K18ac,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6789,0.6787,0.84,0.82,0.83,0.82,,0.213387(U),1.000(P),"1.85,1.83(T,T)",0.0000(T),0.125,-0.127563,2.76,0.754,0.531000,0.190000,-1.550000,0.015000,0.000000,0.000000,3.5665
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Thr377Ile/c.1130C>T,aCc/aTc,MODERATE,COSM4005515(1),0.772165,0.8155,rs1104760,0.34(T),0.144(B),,-1.0395(T),,chr3,195517321,195517321,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr377Ile/c.1130C>T|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-16145C>T|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-11995C>T|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H3K18ac,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6789,0.6787,0.84,0.82,0.83,0.82,,0.749193(U),1.000(P),"1.64,1.63(T,T)",0.0000(T),0.264,-0.426706,2.31,-0.914,-0.302000,-0.201000,0.100000,0.001000,0.000000,0.000000,4.5349
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Phe300Val/c.898T>G,Ttt/Gtt,MODERATE,,0.773762,0.8155,rs386619212,0.65(T),0.0(B),,-1.0164(T),,chr3,195517553,195517553,A,C,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe300Val/c.898T>G|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-16377T>G|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-12227T>G|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","CD4:H3K18ac,HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.681,0.6873,0.84,0.83,0.83,0.82,,,1.000(P),"1.76,1.75(T,T)",0.0000(T),0.051,0.097521,3.57,-7.14,-1.750000,-3.073000,-4.306000,0.000000,0.000000,0.000000,0.3444
missense_variant,MUC4,MISSENSE,NM_018406.6:p.Ala41Pro/c.121G>C,Gct/Cct,MODERATE,,0.504593,0.756,rs3107764,0.75(T),0.001(B),0(N),-1.0488(T),,chr3,195518330,195518330,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala41Pro/c.121G>C|5412|MUC4|protein_coding|CODING|NM_018406.6|2|1),intron_variant(MODIFIER|||c.83-17154G>C|1125|MUC4|protein_coding|CODING|NM_138297.4|1|1),intron_variant(MODIFIER|||c.83-13004G>C|1176|MUC4|protein_coding|CODING|NM_004532.5|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.498,0.5245,0.6362,0.51,0.28,0.62,,0.117775(U),1.000(P),"0.8,0.82(T,T)",0.0000(T),0.152,-0.855433,2.96,-5.93,-2.315000,-5.091000,-2.803000,0.000000,0.000000,0.000000,0.7436
missense_variant,TNK2,MISSENSE,NM_001010938.1:p.Arg955His/c.2864G>A,cGt/cAt,MODERATE,,0.0123802,0.0298,rs112384084,0.03(D),"0.196,0.001,0.067,0.006(B,B,B,B)",1.32(L),-0.8706(T),,chr3,195594494,195594494,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg955His/c.2864G>A|1086|TNK2|protein_coding|CODING|NM_001010938.1|13|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg877His/c.2630G>A|1038|TNK2|protein_coding|CODING|NM_005781.4|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0086,0.0089,0.01,0.00,0.02,,0.006811(N),1.000(N),"-1.18,-1.16,2.58,-1.15,-1.18(T,T,T,T,T)",0.1078(T),0.12,1.344677,5.61,0.166,0.563000,0.069000,0.538000,0.645000,0.153000,0.114000,9.1994
synonymous_variant,TNK2,SILENT,NM_001010938.1:p.Ala851Ala/c.2553T>C,gcT/gcC,LOW,COSM1485035(3),0.118411,0.0327,rs1056749,,,,,,chr3,195594805,195594805,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala851Ala/c.2553T>C|1086|TNK2|protein_coding|CODING|NM_001010938.1|13|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala773Ala/c.2319T>C|1038|TNK2|protein_coding|CODING|NM_005781.4|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0865,0.175,0.13,0.12,0.13,,,,,,,,,,,,,,,,
missense_variant,TNK2,MISSENSE,NM_001010938.1:p.Pro803Leu/c.2408C>T,cCg/cTg,MODERATE,,0.123802,0.0367,rs56260729,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.355(N),-0.9370(T),,chr3,195594950,195594950,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro803Leu/c.2408C>T|1086|TNK2|protein_coding|CODING|NM_001010938.1|13|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro725Leu/c.2174C>T|1038|TNK2|protein_coding|CODING|NM_005781.4|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1636,0.2349,0.2366,0.16,0.04,0.21,,0.381455(N),0.997(P),"1.73,1.73,1.73,1.73,1.73(T,T,T,T,T)",0.0000(T),0.061,-1.028459,5.04,1.38,-1.292000,0.008000,1.514000,0.002000,0.006000,0.147000,8.5498
synonymous_variant,TNK2,SILENT,NM_001010938.1:p.Phe651Phe/c.1953C>T,ttC/ttT,LOW,,0.061901,0.0704,rs1056726,,,,-0.8004(T),,chr3,195595405,195595405,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe651Phe/c.1953C>T|1086|TNK2|protein_coding|CODING|NM_001010938.1|13|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe573Phe/c.1719C>T|1038|TNK2|protein_coding|CODING|NM_005781.4|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0634,0.0259,0.0467,0.05,0.07,0.04,,,1.000(D),,0.0158(T),.,-1.382365,5.41,-5.74,-2.075000,-1.423000,-0.555000,0.071000,0.045000,0.028000,15.998
missense_variant,TFRC,MISSENSE,NM_001128148.1:p.Gly142Ser/c.424G>A,Ggc/Agc,MODERATE,COSM3759997(1),0.30631,0.1518,rs3817672,0.63(T),0.0(B),-1.24(N),-0.9406(T),,chr3,195800811,195800811,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly142Ser/c.424G>A|760|TFRC|protein_coding|CODING|NM_001128148.1|4|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly142Ser/c.424G>A|760|TFRC|protein_coding|CODING|NM_003234.2|4|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.3753,0.3617,0.5427,0.44,0.23,0.55,,0.257483(N),1.000(P),"1.15,1.15,1.15(T,T,T)",0.0000(T),0.003,0.693807,5.2,1.51,-0.374000,0.076000,-0.262000,0.080000,0.001000,0.000000,6.9135
missense_variant,SLC51A,MISSENSE,NM_152672.5:p.Val202Ile/c.604G>A,Gtc/Atc,MODERATE,COSM3759998(1),0.456869,0.7371,rs939885,0.41(T),0.001(B),-1.39(N),-0.9827(T),,chr3,195955762,195955762,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val202Ile/c.604G>A|340|SLC51A|protein_coding|CODING|NM_152672.5|6|1),"H1ESC:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4182,0.5303,0.507,0.40,0.25,0.48,,0.084434(N),0.782(P),0.99(T),0.0000(T),0.044,-0.101199,6.07,2.01,-0.254000,0.179000,-0.095000,0.783000,0.999000,0.001000,0.8166
synonymous_variant,SLC51A,SILENT,NM_152672.5:p.Leu225Leu/c.675T>C,ctT/ctC,LOW,COSM3759999(1),0.497604,0.7897,rs17852687,,,,,,chr3,195956827,195956827,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu225Leu/c.675T>C|340|SLC51A|protein_coding|CODING|NM_152672.5|7|1),HepG2:H3K36me3,,,,0.498,0.4914,0.4394,0.41,0.35,0.44,,,,,,,,,,,,,,,,
missense_variant,TM4SF19,MISSENSE,NM_001204897.1:p.Gln8Pro/c.23A>C,cAg/cCg,MODERATE,COSM1162699(2),0.630791,0.871,rs6785339,0.15(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0194(T),,chr3,196054439,196054439,T,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln8Pro/c.23A>C|242|TM4SF19|protein_coding|CODING|NM_001204897.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln8Pro/c.23A>C|183|TM4SF19|protein_coding|CODING|NM_001204898.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln8Pro/c.23A>C|209|TM4SF19|protein_coding|CODING|NM_138461.3|2|1),downstream_gene_variant(MODIFIER||1998|||TM4SF19-AS1||NON_CODING|NR_046724.1||1),non_coding_exon_variant(MODIFIER|||n.181A>C||TM4SF19-TCTEX1D2||NON_CODING|NR_037950.1|2|1)","HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K36me3",,,,0.7219,0.6009,0.5726,0.54,0.48,0.58,,0.969300(N),1.000(P),"1.88,1.52,1.53(T,T,T)",0.0000(T),0.066,1.282160,5.58,3.1,-1.094000,0.407000,0.670000,0.001000,0.005000,0.029000,3.4069
missense_variant,RNF168,MISSENSE,NM_152617.3:p.Pro401Gln/c.1202C>A,cCa/cAa,MODERATE,,0.402356,0.1756,rs3796129,0.09(T),0.216(B),1.95(M),-1.0413(T),,chr3,196199204,196199204,G,T,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro401Gln/c.1202C>A|571|RNF168|protein_coding|CODING|NM_152617.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5971,0.4798,0.6044,0.52,0.31,0.62,,0.138717(N),1.000(P),3.18(T),0.0000(T),0.079,0.810125,6.08,4.29,0.591000,1.586000,2.318000,0.118000,0.005000,0.041000,8.5913
synonymous_variant,WDR53,SILENT,NM_182627.1:p.Pro317Pro/c.951A>G,ccA/ccG,LOW,COSM3760000(1),0.32488,0.0595,rs9311,,,,,,chr3,196281208,196281208,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro317Pro/c.951A>G|358|WDR53|protein_coding|CODING|NM_182627.1|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:PU1",,,,0.4131,0.317,0.4503,0.43,0.37,0.45,,,,,,,,,,,,,,,,
synonymous_variant,NRROS,SILENT,NM_198565.1:p.Ala150Ala/c.450C>G,gcC/gcG,LOW,COSM446261(1),0.808107,0.9325,rs1798631,,,,,,chr3,196386964,196386964,C,G,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala150Ala/c.450C>G|692|NRROS|protein_coding|CODING|NM_198565.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8548,0.8646,0.7644,0.74,0.70,0.76,,,,,,,,,,,,,,,,
missense_variant,CEP19,MISSENSE,NM_032898.4:p.Met3Val/c.7A>G,Atg/Gtg,MODERATE,COSM3945351(1),0.438099,0.5952,rs6776064,0.97(T),,,-0.9348(T),,chr3,196435534,196435534,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met3Val/c.7A>G|167|CEP19|protein_coding|CODING|NM_032898.4|2|1),"HeLa-S3:DNase1,HUVEC:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,NHEK:H3K4me2,NHEK:DNase1",,,,0.4642,0.3184,0.3459,0.37,0.39,0.35,,,1.000(P),,0.0000(T),0.002,-2.165644,4.99,2.89,-0.128000,0.535000,-0.082000,0.318000,0.007000,0.000000,7.3183
synonymous_variant,SENP5,SILENT,NM_152699.4:p.Asp341Asp/c.1023C>T,gaC/gaT,LOW,,0.236821,0.1667,rs34533379,,,,,,chr3,196613075,196613075,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp341Asp/c.1023C>T|755|SENP5|protein_coding|CODING|NM_152699.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2311,0.1239,0.2346,0.25,0.33,0.21,,,,,,,,,,,,,,,,
missense_variant,PIGZ,MISSENSE,NM_025163.3:p.Met487Ile/c.1461G>A,atG/atA,MODERATE,,0.0303514,0,rs17855662,0.12(T),0.095(B),0.805(L),-0.9089(T),,chr3,196674307,196674307,C,T,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met487Ile/c.1461G>A|579|PIGZ|protein_coding|CODING|NM_025163.3|3|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0389,0.0476,0.0775,0.05,0.01,0.07,,0.010190(N),1.000(D),2.79(T),0.0009(T),0.134,1.785043,4.93,4.93,0.561000,2.472000,1.825000,0.635000,1.000000,1.000000,12.6033
missense_variant,PIGZ,MISSENSE,NM_025163.3:p.Arg340Gln/c.1019G>A,cGg/cAg,MODERATE,COSM4157932(1),0.632188,0.7659,rs4916589,0.61(T),0.0(B),-1.65(N),-0.9538(T),,chr3,196674749,196674749,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg340Gln/c.1019G>A|579|PIGZ|protein_coding|CODING|NM_025163.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,H1ESC:CTCF",,,,0.502,0.5692,0.6034,0.61,0.65,0.58,,0.102698(N),0.002(P),0.04(T),0.0000(T),0.046,-1.084540,4.65,3.4,-0.361000,0.923000,1.385000,0.107000,0.680000,0.998000,1.2871
missense_variant,PIGZ,MISSENSE,NM_025163.3:p.Ala266Thr/c.796G>A,Gcc/Acc,MODERATE,,0.805112,0.9286,rs574365,0.38(T),0.003(B),0.715(N),-0.9721(T),,chr3,196674972,196674972,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala266Thr/c.796G>A|579|PIGZ|protein_coding|CODING|NM_025163.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6207,0.8228,0.7744,0.58,0.69,0.52,,0.627084(N),1.000(P),-0.06(T),0.0000(T),0.031,-0.396012,5.06,1.91,0.561000,0.558000,0.022000,0.005000,0.021000,0.001000,7.2938
synonymous_variant,PIGZ,SILENT,NM_025163.3:p.Ala265Ala/c.795A>G,gcA/gcG,LOW,,0.817492,0.8899,rs573708,,,,,,chr3,196674973,196674973,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala265Ala/c.795A>G|579|PIGZ|protein_coding|CODING|NM_025163.3|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6207,0.8256,0.7694,0.62,0.80,0.53,,,,,,,,,,,,,,,,
missense_variant,DLG1,MISSENSE,NM_004087.2:p.Arg278Gln/c.833G>A,cGa/cAa,MODERATE,,0.127995,0.0714,rs1134986,0.15(T),"0.219,0.124,0.909,0.909,0.955,0.475,0.955(B,B,D,D,D,P,D)",0.545(N),-1.1282(T),,chr3,196865242,196865242,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg278Gln/c.833G>A|904|DLG1|protein_coding|CODING|NM_001098424.1|10|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg245Gln/c.734G>A|892|DLG1|protein_coding|CODING|NM_001204386.1|9|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg162Gln/c.485G>A|800|DLG1|protein_coding|CODING|NM_001204387.1|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg162Gln/c.485G>A|788|DLG1|protein_coding|CODING|NM_001204388.1|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg278Gln/c.833G>A|904|DLG1|protein_coding|CODING|NM_001290983.1|10|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg278Gln/c.833G>A|926|DLG1|protein_coding|CODING|NM_004087.2|10|1)","NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.1225,0.1441,0.11,0.03,0.15,,0.000038(D),0.000(P),"1.74,1.74,1.74,1.74,1.74,1.74,1.74,1.74,1.74,1.74,1.74(T,T,T,T,T,T,T,T,T,T,T)",0.0006(T),0.554,3.698977,5.31,5.31,0.563000,2.633000,7.445000,0.980000,1.000000,1.000000,18.3166
missense_variant,DLG1,MISSENSE,NM_004087.2:p.Lys140Arg/c.419A>G,aAg/aGg,MODERATE,,0.0145767,0.001,rs1802668,0.5(T),"0.013,0.027,0.043,0.027(B,B,B,B)",1.385(L),-1.0730(T),,chr3,196921360,196921360,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys140Arg/c.419A>G|904|DLG1|protein_coding|CODING|NM_001098424.1|5|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys140Arg/c.419A>G|892|DLG1|protein_coding|CODING|NM_001204386.1|5|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys140Arg/c.419A>G|904|DLG1|protein_coding|CODING|NM_001290983.1|5|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys140Arg/c.419A>G|926|DLG1|protein_coding|CODING|NM_004087.2|5|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0082,0.0202,0.0487,0.03,0.01,0.04,,0.000012(D),1.000(D),"0.61,0.61,0.61,0.61,0.61,0.61,0.61,0.61,0.61,0.61,0.61,0.61(T,T,T,T,T,T,T,T,T,T,T,T)",0.0319(T),0.255,2.758266,5.55,5.55,0.460000,2.110000,7.679000,0.976000,1.000000,1.000000,14.8666
missense_variant,FYTTD1,MISSENSE,NM_032288.6:p.Arg87His/c.260G>A,cGt/cAt,MODERATE,COSM3760017(2),0.751997,0.9415,rs3205525,0.12(T),"0.013,0.022(B,B)",0.69(N),-1.0452(T),,chr3,197495334,197495334,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg61His/c.182G>A|292|FYTTD1|protein_coding|CODING|NM_001011537.2|4|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg87His/c.260G>A|318|FYTTD1|protein_coding|CODING|NM_032288.6|3|1),non_coding_exon_variant(MODIFIER|||n.590G>A||FYTTD1||CODING|NR_027840.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8374,0.8156,0.8469,0.72,0.46,0.84,,0.002925(N),0.000(P),"0.44,0.44,0.44,0.44,0.44(T,T,T,T,T)",0.0000(T),0.421,2.002436,4.68,2.88,0.644000,0.714000,2.145000,0.906000,0.959000,1.000000,8.4033
synonymous_variant,LRCH3,SILENT,NM_032773.2:p.Pro629Pro/c.1887C>T,ccC/ccT,LOW,,0.101038,0.0069,rs77281724,0.39(T),,,-1.0622(T),,chr3,197597044,197597044,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro629Pro/c.1887C>T|712|LRCH3|protein_coding|CODING|NM_032773.2|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.136,0.0648,0.1093,0.12,0.12,0.11,,0.282036(N),0.000(P),0.84(T),0.0003(T),.,-0.176262,5.19,1.25,-0.187000,0.167000,-0.359000,0.331000,0.807000,0.438000,1.8562
missense_variant,IQCG,MISSENSE,NM_001134435.2:p.Asp177His/c.529G>C,Gat/Cat,MODERATE,,0.281749,0.2262,rs67877771,0.04(D),"0.971,0.948(D,D)",2.295(M),-0.9122(T),,chr3,197659160,197659160,C,G,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp177His/c.529G>C|443|IQCG|protein_coding|CODING|NM_001134435.2|5|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp177His/c.529G>C|443|IQCG|protein_coding|CODING|NM_032263.3|6|1)",,,,,0.2106,0.1715,0.166,0.26,0.45,0.17,,0.001547(N),0.040(P),"0.74,0.74,0.77,0.49(T,T,T,T)",0.0000(T),0.394,2.093755,4.81,2.88,0.460000,1.073000,1.099000,0.493000,0.987000,0.961000,7.1513
missense_variant,IQCG,MISSENSE,NM_001134435.2:p.Ala112Asp/c.335C>A,gCc/gAc,MODERATE,,0.281749,0.2302,rs9880989,0.63(T),"0.101,0.093(B,B)",1.43(L),-0.9617(T),,chr3,197665599,197665599,G,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala112Asp/c.335C>A|443|IQCG|protein_coding|CODING|NM_001134435.2|4|1),missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala112Asp/c.335C>A|443|IQCG|protein_coding|CODING|NM_032263.3|5|1)",IMR90:H3K36me3,,,,0.2106,0.1715,0.166,0.26,0.45,0.17,,0.000112(N),1.000(P),"0.93,0.93,1.0,0.95(T,T,T,T)",0.0000(T),0.407,0.618799,5.14,-6.87,0.558000,-0.975000,-1.100000,0.049000,0.000000,0.000000,5.5736
missense_variant,LMLN,MISSENSE,NM_001136049.2:p.Glu106Asp/c.318G>T,gaG/gaT,MODERATE,,0.209465,0.0109,rs7373165,,"0.012,0.005,0.006,0.003(B,B,B,B)",0.345(N),-0.9097(T),,chr3,197701913,197701913,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu106Asp/c.318G>T|692|LMLN|protein_coding|CODING|NM_001136049.2|3|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu106Asp/c.318G>T|655|LMLN|protein_coding|CODING|NM_033029.3|3|1),splice_region_variant(LOW|||c.318G>T|692|LMLN|protein_coding|CODING|NM_001136049.2|3|1),splice_region_variant(LOW|||c.318G>T|655|LMLN|protein_coding|CODING|NM_033029.3|3|1),splice_region_variant(LOW|||n.219G>T||LMLN||CODING|NR_026786.1|3|1),splice_region_variant(LOW|||n.219G>T||LMLN||CODING|NR_026787.1|3|1),non_coding_exon_variant(MODIFIER|||n.219G>T||LMLN||CODING|NR_026786.1|3|1),non_coding_exon_variant(MODIFIER|||n.219G>T||LMLN||CODING|NR_026787.1|3|1)",,,,,0.1656,0.1023,0.1173,0.22,0.45,0.11,,0.008017(N),0.987(P),"0.96,0.96,0.96,0.96,0.96(T,T,T,T,T)",0.0000(T),0.116,1.731285,4.44,3.56,0.558000,1.084000,0.868000,0.994000,1.000000,1.000000,8.1783
missense_variant,ZNF595,MISSENSE,NM_182524.3:p.Ile11Val/c.31A>G,Ata/Gta,MODERATE,COSM3760687(2),,,rs6834707,0.23(T),"0.114,0.017(B,B)",,-0.9032(T),,chr4,59350,59350,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile11Val/c.31A>G|614|ZNF595|protein_coding|CODING|NM_001286052.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile11Val/c.31A>G|646|ZNF595|protein_coding|CODING|NM_182524.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile11Val/c.31A>G|478|ZNF718|protein_coding|CODING|NM_001039127.5|2|1),5_prime_UTR_variant(MODIFIER||66|c.-66A>G|446|ZNF718|protein_coding|CODING|NM_001289931.1|2|1),5_prime_UTR_variant(MODIFIER||26595|c.-620A>G|463|ZNF595|protein_coding|CODING|NM_001286054.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.-324+5965A>G|463|ZNF595|protein_coding|CODING|NM_001286053.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.221A>G||ZNF718||CODING|NR_110527.1|2|1)","H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,CD4:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H4K20me1,K562:H3K9ac,NHEK:H3K36me3,K562:H3K79me2,HepG2:H3K27me3,K562:H3K4me2",,,,,,,0.02,0.03,0.02,,,1.000(N),"5.65,5.65(T,T)",0.0009(T),0.106,1.574255,1.26,0.0585,0.397000,0.549000,0.134000,0.284000,0.711000,0.068000,3.5569
synonymous_variant,ZNF595,SILENT,NM_182524.3:p.Gly447Gly/c.1341A>G,ggA/ggG,LOW,,1,1,rs2353625,,,,,,chr4,86738,86738,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly415Gly/c.1245A>G|614|ZNF595|protein_coding|CODING|NM_001286052.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly264Gly/c.792A>G|463|ZNF595|protein_coding|CODING|NM_001286053.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly264Gly/c.792A>G|463|ZNF595|protein_coding|CODING|NM_001286054.1|7|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly447Gly/c.1341A>G|646|ZNF595|protein_coding|CODING|NM_182524.3|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.226+26692A>G|478|ZNF718|protein_coding|CODING|NM_001039127.5|4|1),intron_variant(MODIFIER|||c.130+26692A>G|446|ZNF718|protein_coding|CODING|NM_001289931.1|4|1),intron_variant(MODIFIER|||n.417+26692A>G||ZNF718||CODING|NR_110527.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF595,SILENT,NM_182524.3:p.Asn467Asn/c.1401C>T,aaC/aaT,LOW,,0.244808,0.2143,rs3789149,,,,,,chr4,86798,86798,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn435Asn/c.1305C>T|614|ZNF595|protein_coding|CODING|NM_001286052.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn284Asn/c.852C>T|463|ZNF595|protein_coding|CODING|NM_001286053.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn284Asn/c.852C>T|463|ZNF595|protein_coding|CODING|NM_001286054.1|7|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn467Asn/c.1401C>T|646|ZNF595|protein_coding|CODING|NM_182524.3|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.226+26752C>T|478|ZNF718|protein_coding|CODING|NM_001039127.5|4|1),intron_variant(MODIFIER|||c.130+26752C>T|446|ZNF718|protein_coding|CODING|NM_001289931.1|4|1),intron_variant(MODIFIER|||n.417+26752C>T||ZNF718||CODING|NR_110527.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,0.3528,0.2608,0.1839,0.19,0.23,0.17,,,,,,,,,,,,,,,,
synonymous_variant,ZNF595,SILENT,NM_182524.3:p.Tyr572Tyr/c.1716T>C,taT/taC,LOW,,0.146765,0.1796,rs2006748,,,,,,chr4,87113,87113,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr540Tyr/c.1620T>C|614|ZNF595|protein_coding|CODING|NM_001286052.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr389Tyr/c.1167T>C|463|ZNF595|protein_coding|CODING|NM_001286053.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr389Tyr/c.1167T>C|463|ZNF595|protein_coding|CODING|NM_001286054.1|7|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr572Tyr/c.1716T>C|646|ZNF595|protein_coding|CODING|NM_182524.3|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.226+27067T>C|478|ZNF718|protein_coding|CODING|NM_001039127.5|4|1),intron_variant(MODIFIER|||c.130+27067T>C|446|ZNF718|protein_coding|CODING|NM_001289931.1|4|1),intron_variant(MODIFIER|||n.417+27067T>C||ZNF718||CODING|NR_110527.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.227,0.2161,0.164,0.11,0.04,0.15,,,,,,,,,,,,,,,,
missense_variant,ZNF595,MISSENSE,NM_182524.3:p.Gly627Ala/c.1880G>C,gGt/gCt,MODERATE,,1,1,rs2006764,,,,,,chr4,87277,87277,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly595Ala/c.1784G>C|614|ZNF595|protein_coding|CODING|NM_001286052.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly444Ala/c.1331G>C|463|ZNF595|protein_coding|CODING|NM_001286053.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly444Ala/c.1331G>C|463|ZNF595|protein_coding|CODING|NM_001286054.1|7|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly627Ala/c.1880G>C|646|ZNF595|protein_coding|CODING|NM_182524.3|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.226+27231G>C|478|ZNF718|protein_coding|CODING|NM_001039127.5|4|1),intron_variant(MODIFIER|||c.130+27231G>C|446|ZNF718|protein_coding|CODING|NM_001289931.1|4|1),intron_variant(MODIFIER|||n.417+27231G>C||ZNF718||CODING|NR_110527.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF718,MISSENSE,NM_001039127.5:p.His413Arg/c.1238A>G,cAt/cGt,MODERATE,,0.191094,0.1528,rs7440274,,,,,,chr4,155713,155713,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile339Val/c.1015A>G|403|ZNF718|protein_coding|CODING|NM_001289930.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His413Arg/c.1238A>G|478|ZNF718|protein_coding|CODING|NM_001039127.5|5|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His381Arg/c.1142A>G|446|ZNF718|protein_coding|CODING|NM_001289931.1|5|1),intron_variant(MODIFIER|||n.418-39157A>G||ZNF718||CODING|NR_110527.1|3|1),intron_variant(MODIFIER|||n.198+31158A>G||ZNF718||CODING|NR_110528.1|1|1),non_coding_exon_variant(MODIFIER|||n.1210A>G||ZNF718||CODING|NR_110529.1|2|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,0.2597,0.2406,0.1759,0.15,0.14,0.16,,,,,,,,,,,,,,,,
missense_variant,ZNF732,MISSENSE,NM_001137608.1:p.Trp568Arg/c.1702T>C,Tgg/Cgg,MODERATE,,0.265575,0.1825,rs11731285,0.5(T),0.0(B),-1.355(N),-0.9657(T),,chr4,264941,264941,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp568Arg/c.1702T>C|584|ZNF732|protein_coding|CODING|NM_001137608.1|3|1|WARNING_TRANSCRIPT_NO_START_CODON),"H1ESC:H3K36me3,CD4:H4K20me3",,,,0.3609,0.3069,0.2058,0.22,0.28,0.19,,,1.000(P),1.12(T),0.0000(T),0.19,-2.667468,0.977,-0.566,-1.511000,-1.522000,-3.951000,0.001000,0.001000,0.000000,4.5003
missense_variant,ZNF141,MISSENSE,NM_003441.2:p.Ala46Thr/c.136G>A,Gct/Act,MODERATE,,,,rs75245145,0.2(T),"0.005,0.021,0.017(B,B,B)",0.56(N),-0.9132(T),,chr4,338129,338129,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala46Thr/c.136G>A|474|ZNF141|protein_coding|CODING|NM_003441.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"5.69,5.69,5.69(T,T,T)",0.0019(T),0.167,0.602275,0.793,0.793,0.194000,0.191000,-0.086000,0.197000,0.196000,0.178000,4.7632
missense_variant,ZNF141,MISSENSE,NM_003441.2:p.Cys55Ser/c.163T>A,Tgt/Agt,MODERATE,COSM3669275(1),,,rs79227679,0.24(T),"0.002,0.017,0.032(B,B,B)",1.115(L),-0.9163(T),,chr4,338156,338156,T,A,het,missense_variant(MODERATE|MISSENSE|Tgt/Agt|p.Cys55Ser/c.163T>A|474|ZNF141|protein_coding|CODING|NM_003441.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"5.74,5.74,5.74(T,T,T)",0.0020(T),0.13,0.490280,1.12,-0.113,0.163000,0.165000,-0.453000,0.232000,0.228000,0.804000,2.7373
missense_variant,ZNF141,MISSENSE,NM_003441.2:p.Val65Leu/c.193G>T,Gtg/Ttg,MODERATE,COSM3396560(1),,,rs78725891,0.55(T),"0.001,0.002,0.005(B,B,B)",0.285(N),-0.9026(T),,chr4,338186,338186,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val65Leu/c.193G>T|474|ZNF141|protein_coding|CODING|NM_003441.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"7.42,5.63,3.46(T,T,T)",0.0095(T),0.065,0.008249,0.118,0.118,0.194000,0.191000,0.320000,0.248000,0.245000,0.710000,.
missense_variant,ZNF141,MISSENSE,NM_003441.2:p.Lys69Asn/c.207G>C,aaG/aaC,MODERATE,,,,,0.05(D),"0.037,0.021,0.17(B,B,B)",0.455(N),-0.9668(T),,chr4,338200,338200,G,C,het,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys69Asn/c.207G>C|474|ZNF141|protein_coding|CODING|NM_003441.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"7.15,5.48,3.27(T,T,T)",0.0127(T),0.031,0.456484,0.118,0.118,0.194000,0.191000,0.320000,0.339000,0.334000,0.108000,.
missense_variant,ZNF141,MISSENSE,NM_003441.2:p.Val71Ala/c.212T>C,gTa/gCa,MODERATE,,,,rs80052234,0.24(T),"0.003,0.022,0.008(B,B,B)",0.33(N),-0.9322(T),,chr4,338205,338205,T,C,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val71Ala/c.212T>C|474|ZNF141|protein_coding|CODING|NM_003441.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"7.28,5.62,3.36(T,T,T)",0.0102(T),0.088,0.413830,0.118,0.118,0.163000,0.165000,0.273000,0.391000,0.385000,0.075000,.
missense_variant,PDE6B,MISSENSE,NM_000283.3:p.Val320Ile/c.958G>A,Gtc/Atc,MODERATE,COSM4159133(1),0.999002,1,rs10902758,1(T),"0.001,0.001(B,B)",-2.05(N),-0.9510(T),,chr4,648643,648643,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val320Ile/c.958G>A|854|PDE6B|protein_coding|CODING|NM_000283.3|6|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val320Ile/c.958G>A|853|PDE6B|protein_coding|CODING|NM_001145291.1|6|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val41Ile/c.121G>A|575|PDE6B|protein_coding|CODING|NM_001145292.1|4|1)","GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.022559(N),0.997(P),"-0.09,-0.09,0.41,-0.38,-0.09(T,T,T,T,T)",0.0000(T),0.32,0.385172,4.67,4.67,-0.260000,0.759000,2.674000,0.755000,1.000000,0.984000,8.8244
synonymous_variant,GAK,SILENT,NM_005255.2:p.Ala1273Ala/c.3819T>C,gcT/gcC,LOW,COSM3760789(2),0.800719,0.877,rs8093,,,,-1.0400(T),,chr4,843695,843695,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1175Ala/c.3525T>C|1213|GAK|protein_coding|CODING|NM_001286833.1|24|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1273Ala/c.3819T>C|1311|GAK|protein_coding|CODING|NM_005255.2|27|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8487,0.6369,0.671,0.75,0.88,0.68,,,0.000(P),,0.0000(T),.,-0.847528,4.56,-9.13,-1.578000,-2.434000,-4.755000,0.014000,0.094000,0.000000,2.0039
synonymous_variant,GAK,SILENT,NM_005255.2:p.Thr1200Thr/c.3600C>T,acC/acT,LOW,COSM287830(1),0.0267572,0,rs75072999,0(D),,,-0.9498(T),,chr4,844781,844781,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1102Thr/c.3306C>T|1213|GAK|protein_coding|CODING|NM_001286833.1|23|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1200Thr/c.3600C>T|1311|GAK|protein_coding|CODING|NM_005255.2|26|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.036,0.0835,0.07,0.02,0.09,,,1.000(D),,0.0210(T),.,1.852878,5.41,2.33,0.655000,0.625000,0.666000,0.856000,0.998000,1.000000,11.0372
missense_variant,GAK,MISSENSE,NM_005255.2:p.Gln1078Pro/c.3233A>C,cAg/cCg,MODERATE,,0.000199681,0,rs143488954,0.04(D),"0.397,0.333,0.397,0.375(B,B,B,B)",1.33(L),-0.3303(T),,chr4,853444,853444,T,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln980Pro/c.2939A>C|1213|GAK|protein_coding|CODING|NM_001286833.1|21|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln1078Pro/c.3233A>C|1311|GAK|protein_coding|CODING|NM_005255.2|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.001264(N),1.000(D),"-0.91,-1.36(T,T)",0.3635(T),0.559,3.778359,4.68,4.68,0.418000,1.730000,3.957000,0.955000,1.000000,1.000000,8.4997
synonymous_variant,GAK,SILENT,NM_005255.2:p.Ala1045Ala/c.3135A>G,gcA/gcG,LOW,COSM4159242(1),0.975439,1,rs1026738,,,,-1.0095(T),,chr4,858941,858941,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala947Ala/c.2841A>G|1213|GAK|protein_coding|CODING|NM_001286833.1|20|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1045Ala/c.3135A>G|1311|GAK|protein_coding|CODING|NM_005255.2|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9918,0.8948,0.9612,0.97,0.99,0.96,,,1.000(P),,0.0000(T),.,0.188383,3.57,1.21,-0.215000,0.041000,-1.059000,0.000000,0.000000,0.000000,6.515
synonymous_variant,GAK,SILENT,NM_005255.2:p.Ser1001Ser/c.3003T>C,agT/agC,LOW,COSM4159243(1),0.652756,0.6567,rs1064207,,,,-1.0581(T),,chr4,860192,860192,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser903Ser/c.2709T>C|1213|GAK|protein_coding|CODING|NM_001286833.1|19|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser1001Ser/c.3003T>C|1311|GAK|protein_coding|CODING|NM_005255.2|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8272,0.585,0.6252,0.62,0.61,0.63,,,0.000(P),,0.0000(T),.,-0.532196,5.24,-4.8,-2.599000,-1.390000,-1.084000,0.005000,0.765000,0.032000,15.233
splice_acceptor_variant,TMEM175,protein_coding,NM_001297425.1:c.1A>C,,HIGH,,0.0321486,0.001,rs34884217,,,-0.345(N),,TMEM175:0.14(7);,chr4,944210,944210,A,C,het,"splice_acceptor_variant(HIGH|||c.1A>C|422|TMEM175|protein_coding|CODING|NM_001297425.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln65Pro/c.194A>C|504|TMEM175|protein_coding|CODING|NM_032326.3|4|1),splice_region_variant(LOW||||422|TMEM175|protein_coding|CODING|NM_001297423.1|4|1),splice_region_variant(LOW||||422|TMEM175|protein_coding|CODING|NM_001297424.1|2|1),splice_region_variant(LOW||||388|TMEM175|protein_coding|CODING|NM_001297426.1|5|1),splice_region_variant(LOW||||388|TMEM175|protein_coding|CODING|NM_001297427.1|4|1),splice_region_variant(LOW||||388|TMEM175|protein_coding|CODING|NM_001297428.1|2|1),splice_region_variant(LOW|||c.194A>C|504|TMEM175|protein_coding|CODING|NM_032326.3|4|1),5_prime_UTR_variant(MODIFIER||53|c.-53A>C|422|TMEM175|protein_coding|CODING|NM_001297423.1|4|1),5_prime_UTR_variant(MODIFIER||53|c.-53A>C|422|TMEM175|protein_coding|CODING|NM_001297424.1|2|1),5_prime_UTR_variant(MODIFIER||1266|c.-191A>C|388|TMEM175|protein_coding|CODING|NM_001297426.1|5|1),5_prime_UTR_variant(MODIFIER||1266|c.-191A>C|388|TMEM175|protein_coding|CODING|NM_001297427.1|4|1),5_prime_UTR_variant(MODIFIER||1266|c.-191A>C|388|TMEM175|protein_coding|CODING|NM_001297428.1|2|1),intron_variant(MODIFIER|||c.-51-2A>C|422|TMEM175|protein_coding|CODING|NM_001297425.1|1|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0266,0.049,0.0964,0.08,0.02,0.11,,,1.000(D),,,.,-0.585596,4.9,0.563,-0.396000,0.233000,4.186000,0.007000,0.101000,1.000000,4.3737
synonymous_variant,TMEM175,SILENT,NM_032326.3:p.Ile150Ile/c.450T>C,atT/atC,LOW,COSM3760835(2),0.647564,0.7222,rs11552301,,,,-1.0054(T),,chr4,946226,946226,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile68Ile/c.204T>C|422|TMEM175|protein_coding|CODING|NM_001297423.1|7|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile68Ile/c.204T>C|422|TMEM175|protein_coding|CODING|NM_001297424.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile68Ile/c.204T>C|422|TMEM175|protein_coding|CODING|NM_001297425.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile34Ile/c.102T>C|388|TMEM175|protein_coding|CODING|NM_001297426.1|8|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile34Ile/c.102T>C|388|TMEM175|protein_coding|CODING|NM_001297427.1|7|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile34Ile/c.102T>C|388|TMEM175|protein_coding|CODING|NM_001297428.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile150Ile/c.450T>C|504|TMEM175|protein_coding|CODING|NM_032326.3|7|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6309,0.4769,0.5765,0.64,0.72,0.60,,,0.000(P),,0.0000(T),.,-0.610490,4.77,-4.77,-0.343000,-1.024000,-0.585000,0.067000,0.125000,0.337000,8.9801
synonymous_variant,DGKQ,SILENT,NM_001347.3:p.Val317Val/c.951C>T,gtC/gtT,LOW,COSM3760842(3),0.403954,0.3363,rs1377586,,,,-0.9149(T),,chr4,961373,961373,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val317Val/c.951C>T|942|DGKQ|protein_coding|CODING|NM_001347.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3487,0.5519,0.4483,0.44,0.39,0.46,,,0.000(P),,0.0000(T),.,-0.552850,4.97,2.2,0.544000,0.131000,0.653000,0.021000,0.005000,0.999000,5.0796
synonymous_variant,IDUA,SILENT,NM_000203.4:p.Ala20Ala/c.60G>A,gcG/gcA,LOW,,0.394369,0.2718,rs10902762,,,,-0.9078(T),,chr4,980932,980932,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala20Ala/c.60G>A|653|IDUA|protein_coding|CODING|NM_000203.4|1|1),downstream_gene_variant(MODIFIER||513||701|SLC26A1|protein_coding|CODING|NM_022042.3||1),downstream_gene_variant(MODIFIER||513||701|SLC26A1|protein_coding|CODING|NM_213613.3||1),intron_variant(MODIFIER|||c.576+3984C>T|224|SLC26A1|protein_coding|CODING|NM_134425.2|2|1),non_coding_exon_variant(MODIFIER|||n.148G>A||IDUA||CODING|NR_110313.1|1|1)","K562:ZBTB7A,NHEK:CTCF,HepG2:Gabp,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,K562:CTCF,HUVEC:PolII,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,K562:Gabp,K562:Cmyc,HMEC:CTCF,K562:E2F6,K562:ELF1,GM12878:PolII,K562:Egr1,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,RCV000078397.1,,0.4703,0.5375,0.4364,,,,,0.822365(N),1.000(P),,0.0000(T),.,1.062924,2.77,0.614,-2.281000,0.031000,0.241000,0.005000,0.001000,0.001000,8.5231
missense_variant,IDUA,MISSENSE,NM_000203.4:p.His33Gln/c.99T>G,caT/caG,MODERATE,,0.891973,0.8472,rs10794537,,,0(N),-0.9732(T),,chr4,980971,980971,T,G,het,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His33Gln/c.99T>G|653|IDUA|protein_coding|CODING|NM_000203.4|1|1),downstream_gene_variant(MODIFIER||474||701|SLC26A1|protein_coding|CODING|NM_022042.3||1),downstream_gene_variant(MODIFIER||474||701|SLC26A1|protein_coding|CODING|NM_213613.3||1),intron_variant(MODIFIER|||c.576+3945A>C|224|SLC26A1|protein_coding|CODING|NM_134425.2|2|1),non_coding_exon_variant(MODIFIER|||n.187T>G||IDUA||CODING|NR_110313.1|1|1)","K562:ZBTB7A,NHEK:CTCF,HepG2:Gabp,K562:Max,K562:H3K4me3,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,K562:CTCF,HUVEC:PolII,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,K562:Cmyc,HMEC:CTCF,K562:E2F6,K562:ELF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,RCV000078401.1,,0.9438,0.8386,0.8042,,,,,,0.001(P),,0.0000(T),.,-0.056533,3.62,-0.897,-1.482000,-0.253000,-2.547000,0.012000,0.992000,0.000000,1.2904
synonymous_variant,SLC26A1,SILENT,NM_022042.3:p.Ala625Ala/c.1875C>T,gcC/gcT,LOW,COSM3760845(3),0.438099,0.372,rs3796621,,,,,,chr4,982852,982852,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala625Ala/c.1875C>T|701|SLC26A1|protein_coding|CODING|NM_022042.3|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala625Ala/c.1875C>T|701|SLC26A1|protein_coding|CODING|NM_213613.3|4|1),intron_variant(MODIFIER|||c.576+2064C>T|224|SLC26A1|protein_coding|CODING|NM_134425.2|2|1),intron_variant(MODIFIER|||c.299+1115G>A|653|IDUA|protein_coding|CODING|NM_000203.4|2|1),intron_variant(MODIFIER|||n.387+1115G>A||IDUA||CODING|NR_110313.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.499,0.5576,0.4423,0.43,0.39,0.45,,,,,,,,,,,,,,,,
missense_variant,SLC26A1,MISSENSE,NM_022042.3:p.Gln556Arg/c.1667A>G,cAg/cGg,MODERATE,COSM4159319(1),0.685703,0.629,rs3796622,0.4(T),0.001(B),-0.815(N),-0.8959(T),,chr4,983060,983060,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln556Arg/c.1667A>G|701|SLC26A1|protein_coding|CODING|NM_022042.3|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln556Arg/c.1667A>G|701|SLC26A1|protein_coding|CODING|NM_213613.3|4|1),intron_variant(MODIFIER|||c.576+1856A>G|224|SLC26A1|protein_coding|CODING|NM_134425.2|2|1),intron_variant(MODIFIER|||c.299+1323T>C|653|IDUA|protein_coding|CODING|NM_000203.4|2|1),intron_variant(MODIFIER|||n.387+1323T>C||IDUA||CODING|NR_110313.1|2|1)","HUVEC:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7761,0.6873,0.6392,0.65,0.66,0.65,,0.017436(N),1.000(P),"-2.14,-2.14(D,D)",0.0000(T),0.019,-0.247243,4.67,-1.25,-1.204000,-0.500000,0.022000,0.382000,0.124000,0.000000,11.2258
synonymous_variant,SLC26A1,SILENT,NM_022042.3:p.Ser306Ser/c.918G>A,tcG/tcA,LOW,COSM448375(6),0.388978,0.3482,rs4690221,,,,,,chr4,983809,983809,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser306Ser/c.918G>A|701|SLC26A1|protein_coding|CODING|NM_022042.3|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser306Ser/c.918G>A|701|SLC26A1|protein_coding|CODING|NM_213613.3|4|1),intron_variant(MODIFIER|||c.576+1107G>A|224|SLC26A1|protein_coding|CODING|NM_134425.2|2|1),intron_variant(MODIFIER|||c.299+2072C>T|653|IDUA|protein_coding|CODING|NM_000203.4|2|1),intron_variant(MODIFIER|||n.387+2072C>T||IDUA||CODING|NR_110313.1|2|1)","HUVEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3599,0.5418,0.4145,0.39,0.34,0.41,,,,,,,,,,,,,,,,
missense_variant,RNF212,MISSENSE,NM_001193318.2:p.Ile262Val/c.784A>G,Atc/Gtc,MODERATE,COSM4158738(1),0.775759,0.6488,rs1670534,1(T),,0(N),-0.9168(T),,chr4,1087265,1087265,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile262Val/c.784A>G|273|RNF212|protein_coding|CODING|NM_001193318.2|4|1),intron_variant(MODIFIER|||c.247-2639A>G|297|RNF212|protein_coding|CODING|NM_001131034.3|3|1),intron_variant(MODIFIER|||c.247-2639A>G|232|RNF212|protein_coding|CODING|NM_194439.4|3|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7485,0.6513,0.7565,,,,,,1.000(P),,0.0000(T),0.043,-0.891967,1.03,-2.06,-0.355000,-2.229000,-3.610000,0.000000,0.000000,0.000000,0.2477
synonymous_variant,RNF212,SILENT,NM_001193318.2:p.Arg240Arg/c.720G>A,agG/agA,LOW,COSM4158739(1),0.773562,0.6488,rs118112880,,,,,,chr4,1087329,1087329,C,T,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg240Arg/c.720G>A|273|RNF212|protein_coding|CODING|NM_001193318.2|4|1),intron_variant(MODIFIER|||c.247-2703G>A|297|RNF212|protein_coding|CODING|NM_001131034.3|3|1),intron_variant(MODIFIER|||c.247-2703G>A|232|RNF212|protein_coding|CODING|NM_194439.4|3|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7485,0.6513,0.7565,,,,,,,,,,,,,,,,,,,
synonymous_variant,RNF212,SILENT,NM_001193318.2:p.Gly237Gly/c.711G>A,ggG/ggA,LOW,COSM4158740(2),0.773562,0.6488,rs11725984,,,,,,chr4,1087338,1087338,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly237Gly/c.711G>A|273|RNF212|protein_coding|CODING|NM_001193318.2|4|1),intron_variant(MODIFIER|||c.247-2712G>A|297|RNF212|protein_coding|CODING|NM_001131034.3|3|1),intron_variant(MODIFIER|||c.247-2712G>A|232|RNF212|protein_coding|CODING|NM_194439.4|3|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7485,0.6513,0.7565,,,,,,,,,,,,,,,,,,,
synonymous_variant,RNF212,SILENT,NM_001193318.2:p.Thr216Thr/c.648C>T,acC/acT,LOW,,0.0279553,0,rs386432258,,,,,,chr4,1087401,1087401,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr216Thr/c.648C>T|273|RNF212|protein_coding|CODING|NM_001193318.2|4|1),intron_variant(MODIFIER|||c.247-2775C>T|297|RNF212|protein_coding|CODING|NM_001131034.3|3|1),intron_variant(MODIFIER|||c.247-2775C>T|232|RNF212|protein_coding|CODING|NM_194439.4|3|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0317,0.0303,0.0845,,,,,,,,,,,,,,,,,,,
missense_variant,SPON2,MISSENSE,NM_001128325.2:p.Val242Leu/c.724G>C,Gtg/Ctg,MODERATE,COSM3760349(1),0.553315,0.6766,rs2279279,0.46(T),0.071(B),2.015(M),-1.0095(T),,chr4,1164277,1164277,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val242Leu/c.724G>C|331|SPON2|protein_coding|CODING|NM_001128325.2|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val242Leu/c.724G>C|331|SPON2|protein_coding|CODING|NM_001199021.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val242Leu/c.724G>C|331|SPON2|protein_coding|CODING|NM_012445.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6278,0.7089,0.6829,0.54,0.28,0.67,,0.000679(D),0.067(P),"2.99,2.99(T,T)",0.0000(T),0.102,2.135501,4.74,3.83,0.609000,2.180000,2.473000,0.277000,1.000000,1.000000,7.1626
missense_variant,SPON2,MISSENSE,NM_001128325.2:p.Ala122Glu/c.365C>A,gCg/gAg,MODERATE,COSM3760350(5),0.554513,0.6756,rs11247975,0.91(T),0.019(B),,-1.0197(T),,chr4,1165130,1165130,G,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala122Glu/c.365C>A|331|SPON2|protein_coding|CODING|NM_001128325.2|4|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala122Glu/c.365C>A|331|SPON2|protein_coding|CODING|NM_001199021.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala122Glu/c.365C>A|331|SPON2|protein_coding|CODING|NM_012445.3|3|1)","NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,CD4:CTCF,HepG2:H3K36me3",,,,0.6278,0.7089,0.6839,0.56,0.31,0.69,,0.036396(N),0.998(P),"1.04,1.04(T,T)",0.0000(T),0.027,0.628442,4.59,-8.23,-0.416000,-2.550000,0.841000,0.270000,0.000000,0.309000,10.9761
missense_variant,SPON2,MISSENSE,NM_001128325.2:p.Leu40Pro/c.119T>C,cTg/cCg,MODERATE,COSM4158759(1),0.948283,1,rs922697,0.14(T),"0.058,0.024(B,B)",1.01(L),-1.0340(T),,chr4,1165741,1165741,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu40Pro/c.119T>C|331|SPON2|protein_coding|CODING|NM_001128325.2|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu40Pro/c.119T>C|331|SPON2|protein_coding|CODING|NM_001199021.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu40Pro/c.119T>C|331|SPON2|protein_coding|CODING|NM_012445.3|2|1)","H1ESC:H3K36me3,CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:DNase1",,,,1,0.9798,0.997,0.96,0.87,1.00,,0.046844(N),0.872(P),"2.94,2.94,1.51,1.53,1.53(T,T,T,T,T)",0.0000(T),0.539,0.499840,4.44,2.0,-1.439000,-0.125000,0.332000,0.136000,0.200000,0.362000,10.2172
synonymous_variant,SLBP,SILENT,NM_006527.2:p.Tyr151Tyr/c.453C>T,taC/taT,LOW,,0.389577,0.6935,rs2247341,,,,,,chr4,1701317,1701317,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr151Tyr/c.453C>T|270|SLBP|protein_coding|CODING|NM_006527.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Height,,,0.5082,0.366,0.332,0.29,0.18,0.34,,,0.000(P),,,.,1.257050,5.19,-6.91,-0.322000,-0.982000,-0.109000,0.992000,0.964000,0.401000,15.2628
synonymous_variant,TACC3,SILENT,NM_006342.2:p.Phe563Phe/c.1689C>T,ttC/ttT,LOW,,0.390176,0.6935,rs11248073,,,,,,chr4,1737502,1737502,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe563Phe/c.1689C>T|838|TACC3|protein_coding|CODING|NM_006342.2|8|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4949,0.3732,0.3429,0.29,0.18,0.35,,,0.000(P),,,.,-0.810689,5.27,-7.14,-0.792000,-1.407000,0.174000,0.015000,0.004000,0.989000,16.5141
synonymous_variant,TACC3,SILENT,NM_006342.2:p.His666His/c.1998C>T,caC/caT,LOW,,0.00259585,0,rs150991238,,,,,,chr4,1741485,1741485,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His666His/c.1998C>T|838|TACC3|protein_coding|CODING|NM_006342.2|11|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.0109,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,FGFR3,SILENT,NM_001163213.1:p.Asp139Asp/c.417C>T,gaC/gaT,LOW,,0.0201677,0,rs3135867,,,,,,chr4,1801511,1801511,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp139Asp/c.417C>T|806|FGFR3|protein_coding|CODING|NM_000142.4|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp139Asp/c.417C>T|808|FGFR3|protein_coding|CODING|NM_001163213.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp139Asp/c.417C>T|694|FGFR3|protein_coding|CODING|NM_022965.3|4|1)","H1ESC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0276,0.0331,0.0487,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FGFR3,SILENT,NM_001163213.1:p.Thr653Thr/c.1959G>A,acG/acA,LOW,,0.95607,1,rs7688609,,,,,,chr4,1807894,1807894,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr651Thr/c.1953G>A|806|FGFR3|protein_coding|CODING|NM_000142.4|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr653Thr/c.1959G>A|808|FGFR3|protein_coding|CODING|NM_001163213.1|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr539Thr/c.1617G>A|694|FGFR3|protein_coding|CODING|NM_022965.3|12|1)","H1ESC:H3K36me3,K562:H3K36me3,HepG2:PolII,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9914,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LETM1,SILENT,NM_012318.2:p.Lys597Lys/c.1791G>A,aaG/aaA,LOW,,0.960663,1,rs9328763,,,,,,chr4,1818594,1818594,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys597Lys/c.1791G>A|739|LETM1|protein_coding|CODING|NM_012318.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,LETM1,MISSENSE,NM_012318.2:p.Arg115His/c.344G>A,cGc/cAc,MODERATE,,0.0203674,0.001,rs116753949,0.6(T),"0.002,0.0(B,B)",0.895(L),-1.0815(T),,chr4,1843324,1843324,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg115His/c.344G>A|739|LETM1|protein_coding|CODING|NM_012318.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0133,0.0375,0.0557,0.05,0.01,0.07,,0.085976(N),1.000(N),,0.0070(T),0.062,1.280899,4.75,2.04,0.563000,0.632000,0.233000,0.084000,0.004000,0.000000,3.6478
missense_variant,C4orf48,MISSENSE,NM_001168243.1:p.Pro50Leu/c.149C>T,cCg/cTg,MODERATE,,0.992812,1,rs570712,1(T),"0.0,0.0(B,B)",,-0.9800(T),,chr4,2044128,2044128,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro17Leu/c.50C>T|95|C4orf48|protein_coding|CODING|NM_001141936.2|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro50Leu/c.149C>T|128|C4orf48|protein_coding|CODING|NM_001168243.1|2|1)","K562:ZBTB7A,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1",,,,1,1,1,,,,,0.419306(U),1.000(P),,0.0000(T),0.196,-1.270959,2.86,-3.27,-0.450000,-0.746000,1.890000,0.431000,0.016000,0.197000,8.057
missense_variant,POLN,MISSENSE,NM_181808.2:p.Gln121His/c.363G>T,caG/caT,MODERATE,,0.0439297,0.003,rs2353552,0.02(D),"0.628,0.628(P,P)",0.975(L),-1.0914(T),,chr4,2210065,2210065,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln121His/c.363G>T|900|POLN|protein_coding|CODING|NM_181808.2|3|1),,,,,0.0348,0.0677,0.1262,0.09,0.02,0.13,,0.000537(N),1.000(P),"0.81,0.81(T,T)",0.0016(T),0.172,3.658914,5.27,-0.11,-0.258000,0.219000,-0.704000,0.592000,0.000000,0.000000,1.232
synonymous_variant,ZFYVE28,SILENT,NM_020972.2:p.Phe720Phe/c.2160C>T,ttC/ttT,LOW,COSM3760552(1),0.35623,0.12,rs2051561,,,,,,chr4,2275835,2275835,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe690Phe/c.2070C>T|857|ZFYVE28|protein_coding|CODING|NM_001172656.1|8|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe650Phe/c.1950C>T|817|ZFYVE28|protein_coding|CODING|NM_001172659.1|9|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe720Phe/c.2160C>T|887|ZFYVE28|protein_coding|CODING|NM_020972.2|9|1)","NHEK:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.2883,0.513,0.5427,0.47,0.35,0.54,,,,,,,,,,,,,,,,
missense_variant,ZFYVE28,MISSENSE,NM_020972.2:p.Ser672Pro/c.2014T>C,Tcg/Ccg,MODERATE,COSM447735(4),0.723842,0.6806,rs661301,0.38(T),"0.0,0.0(B,B)",0(N),-1.0065(T),,chr4,2306053,2306053,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser642Pro/c.1924T>C|857|ZFYVE28|protein_coding|CODING|NM_001172656.1|7|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser602Pro/c.1804T>C|817|ZFYVE28|protein_coding|CODING|NM_001172659.1|8|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser672Pro/c.2014T>C|887|ZFYVE28|protein_coding|CODING|NM_020972.2|8|1)","K562:H3K36me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.7249,0.7608,0.833,0.78,0.69,0.83,,0.001410(N),1.000(P),"0.31,0.32,0.32(T,T,T)",0.0000(T),0.025,0.850079,3.14,-6.27,0.254000,-2.013000,-1.570000,0.083000,0.000000,0.000000,2.167
missense_variant,CFAP99,MISSENSE,NM_001193282.2:p.Cys253Arg/c.757T>C,Tgc/Cgc,MODERATE,,0.930112,0.9772,rs3108494,,,,,,chr4,2451694,2451694,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys253Arg/c.757T>C|646|CFAP99|protein_coding|CODING|NM_001193282.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8027,0.9582,0.9056,,,,,,,,,,,,,,,,,,,
missense_variant,CFAP99,MISSENSE,NM_001193282.2:p.Ala428Val/c.1283C>T,gCg/gTg,MODERATE,,0.344249,0.5952,rs73205493,0.39(T),,0(N),-0.9521(T),,chr4,2460571,2460571,C,T,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala428Val/c.1283C>T|646|CFAP99|protein_coding|CODING|NM_001193282.2|12|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3456,0.4553,0.3032,,,,,,,,0.0000(T),0.034,0.099008,4.55,0.0341,-0.670000,0.313000,0.808000,0.003000,0.021000,0.203000,0.9104
missense_variant,CFAP99,MISSENSE,NM_001193282.2:p.His527Arg/c.1580A>G,cAc/cGc,MODERATE,,0.9998,1,rs3135152,0.78(T),,0(N),-0.9407(T),,chr4,2461888,2461888,A,G,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His527Arg/c.1580A>G|646|CFAP99|protein_coding|CODING|NM_001193282.2|14|1),"H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,0.999,,,,,,,,0.0000(T),0.06,-0.269287,4.6,3.75,-0.119000,1.310000,3.798000,0.077000,0.666000,0.999000,5.2597
synonymous_variant,CFAP99,SILENT,NM_001193282.2:p.Glu557Glu/c.1671A>G,gaA/gaG,LOW,,0.698882,0.7014,rs3135150,,,,,,chr4,2464179,2464179,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu557Glu/c.1671A>G|646|CFAP99|protein_coding|CODING|NM_001193282.2|15|1),"K562:Max,K562:H3K4me3,K562:PolII,H1ESC:H3K9ac,HUVEC:Max,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1",,,,0.8016,0.8184,0.6809,,,,,,,,,,,,,,,,,,,
synonymous_variant,TNIP2,SILENT,NM_024309.3:p.Ala425Ala/c.1275T>C,gcT/gcC,LOW,COSM1753701(1),0.787141,0.6052,rs232712,,,,,,chr4,2743999,2743999,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala318Ala/c.954T>C|322|TNIP2|protein_coding|CODING|NM_001161527.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala342Ala/c.1026T>C|346|TNIP2|protein_coding|CODING|NM_001292016.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala425Ala/c.1275T>C|429|TNIP2|protein_coding|CODING|NM_024309.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.863,0.8804,0.8181,0.80,0.79,0.81,,,,,,,,,,,,,,,,
missense_variant,TNIP2,MISSENSE,NM_024309.3:p.Ala396Val/c.1187C>T,gCc/gTc,MODERATE,COSM447768(2),0.342851,0.3879,rs2269495,0.06(T),"0.173,0.163(B,B)",2.015(M),-0.9264(T),,chr4,2744087,2744087,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala289Val/c.866C>T|322|TNIP2|protein_coding|CODING|NM_001161527.1|6|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala313Val/c.938C>T|346|TNIP2|protein_coding|CODING|NM_001292016.1|5|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala396Val/c.1187C>T|429|TNIP2|protein_coding|CODING|NM_024309.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4376,0.5663,0.4165,0.33,0.14,0.43,,0.942635(N),1.000(P),"1.12,1.12,1.12(T,T,T)",0.0000(T),0.048,3.520625,5.11,1.99,0.561000,0.536000,0.476000,0.006000,0.001000,0.002000,12.8156
synonymous_variant,SH3BP2,SILENT,NM_001145856.1:p.Leu98Leu/c.294G>T,ctG/ctT,LOW,COSM3760562(2),0.372005,0.4603,rs231402,,,,,,chr4,2822467,2822467,G,T,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu41Leu/c.123G>T|561|SH3BP2|protein_coding|CODING|NM_001122681.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu69Leu/c.207G>T|589|SH3BP2|protein_coding|CODING|NM_001145855.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu98Leu/c.294G>T|618|SH3BP2|protein_coding|CODING|NM_001145856.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu41Leu/c.123G>T|561|SH3BP2|protein_coding|CODING|NM_003023.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4918,0.487,0.4324,0.35,0.16,0.45,,,,,,,,,,,,,,,,
synonymous_variant,SH3BP2,SILENT,NM_001145856.1:p.His157His/c.471T>C,caT/caC,LOW,COSM4159019(1),0.78754,0.5546,rs3213501,,,,,,chr4,2826400,2826400,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His100His/c.300T>C|561|SH3BP2|protein_coding|CODING|NM_001122681.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His128His/c.384T>C|589|SH3BP2|protein_coding|CODING|NM_001145855.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His157His/c.471T>C|618|SH3BP2|protein_coding|CODING|NM_001145856.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His100His/c.300T>C|561|SH3BP2|protein_coding|CODING|NM_003023.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7996,0.8271,0.7197,0.80,0.94,0.72,,,,,,,,,,,,,,,,
synonymous_variant,SH3BP2,SILENT,NM_001145856.1:p.Ala307Ala/c.921T>G,gcT/gcG,LOW,COSM1131132(3),0.466254,0.4712,rs231399,,,,,,chr4,2831383,2831383,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala250Ala/c.750T>G|561|SH3BP2|protein_coding|CODING|NM_001122681.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala278Ala/c.834T>G|589|SH3BP2|protein_coding|CODING|NM_001145855.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala307Ala/c.921T>G|618|SH3BP2|protein_coding|CODING|NM_001145856.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala250Ala/c.750T>G|561|SH3BP2|protein_coding|CODING|NM_003023.4|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5532,0.5245,0.4851,0.45,0.37,0.50,,,,,,,,,,,,,,,,
missense_variant,ADD1,MISSENSE,NM_014189.3:p.Gly460Trp/c.1378G>T,Ggg/Tgg,MODERATE,COSM3760567(1),0.208466,0.4524,rs4961,0.02(D),"0.972,1.0,0.986,0.97,1.0,0.972(D,D,D,D,D,D)",1.975(M),-0.9459(T),,chr4,2906707,2906707,G,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly460Trp/c.1378G>T|737|ADD1|protein_coding|CODING|NM_001119.4|10|1),missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly460Trp/c.1378G>T|662|ADD1|protein_coding|CODING|NM_001286645.1|11|1),missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly460Trp/c.1378G>T|631|ADD1|protein_coding|CODING|NM_014190.3|10|1),missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly460Trp/c.1378G>T|768|ADD1|protein_coding|CODING|NM_014189.3|10|1),missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly460Trp/c.1378G>T|662|ADD1|protein_coding|CODING|NM_176801.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000019936.1,,0.2004,0.1744,0.2048,0.16,0.09,0.20,,0.000000(D),0.000(P),"2.05,2.05,2.05,2.05,2.05,2.05,2.05,2.05(T,T,T,T,T,T,T,T)",0.0000(T),0.633,4.049487,5.55,5.55,0.655000,2.610000,6.521000,0.784000,0.998000,1.000000,19.4964
missense_variant,ADD1,MISSENSE,NM_014189.3:p.Ser617Cys/c.1850C>G,tCt/tGt,MODERATE,COSM3760568(1),0.237819,0.4524,rs4963,,,1.04(L),-0.8876(T),,chr4,2916762,2916762,C,G,het,"missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser586Cys/c.1757C>G|737|ADD1|protein_coding|CODING|NM_001119.4|13|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser617Cys/c.1850C>G|662|ADD1|protein_coding|CODING|NM_001286645.1|15|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser617Cys/c.1850C>G|768|ADD1|protein_coding|CODING|NM_014189.3|13|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser586Cys/c.1757C>G|631|ADD1|protein_coding|CODING|NM_014190.3|13|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser617Cys/c.1850C>G|662|ADD1|protein_coding|CODING|NM_176801.2|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.1772,0.1909,0.18,0.18,0.18,,,1.000(P),,0.0000(T),.,1.700709,5.44,4.6,-0.217000,1.306000,1.284000,0.724000,0.533000,0.007000,16.4208
missense_variant,NOP14,MISSENSE,NM_001291978.1:p.Gln716Arg/c.2147A>G,cAa/cGa,MODERATE,COSM4159022(1),0.405152,0.1905,rs1054090,0(D),"0.001,0.001(B,B)",-0.695(N),-0.9625(T),,chr4,2943361,2943361,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln716Arg/c.2147A>G|857|NOP14|protein_coding|CODING|NM_001291978.1|15|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln716Arg/c.2147A>G|806|NOP14|protein_coding|CODING|NM_001291979.1|15|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln716Arg/c.2147A>G|857|NOP14|protein_coding|CODING|NM_003703.2|15|1),intron_variant(MODIFIER|||n.2692+2842T>C||NOP14-AS1||NON_CODING|NR_015453.1|2|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2188,0.4107,0.4354,0.49,0.63,0.42,,0.072171(N),1.000(P),"1.58,1.58,1.58,1.58(T,T,T,T)",0.0000(T),0.025,-0.695140,5.67,-2.18,-1.551000,-1.049000,-0.445000,0.001000,0.000000,0.000000,7.1512
missense_variant,NOP14,MISSENSE,NM_001291978.1:p.Leu380Ser/c.1139T>C,tTg/tCg,MODERATE,,0.407548,0.1915,rs2515960,0(D),"0.0,0.0(B,B)",-2.66(N),-0.9708(T),,chr4,2951804,2951804,A,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu380Ser/c.1139T>C|857|NOP14|protein_coding|CODING|NM_001291978.1|8|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu380Ser/c.1139T>C|806|NOP14|protein_coding|CODING|NM_001291979.1|8|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu380Ser/c.1139T>C|857|NOP14|protein_coding|CODING|NM_003703.2|8|1),intron_variant(MODIFIER|||n.2941-76A>G||NOP14-AS1||NON_CODING|NR_015453.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2178,0.415,0.4433,0.50,0.63,0.43,,0.001898(N),0.988(P),"1.61,1.61,1.61,1.61(T,T,T,T)",0.0000(T),0.11,-0.248704,5.43,5.43,-0.119000,1.309000,3.876000,0.104000,0.955000,1.000000,13.1764
missense_variant,GRK4,MISSENSE,NM_182982.2:p.Ala142Val/c.425C>T,gCc/gTc,MODERATE,,0.373203,0.1895,rs1024323,0.27(T),"0.002,0.003,0.004,0.004(B,B,B,B)",-1.15(N),-1.1085(T),,chr4,3006043,3006043,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala110Val/c.329C>T|546|GRK4|protein_coding|CODING|NM_001004056.1|4|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala142Val/c.425C>T|532|GRK4|protein_coding|CODING|NM_001004057.1|5|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala110Val/c.329C>T|500|GRK4|protein_coding|CODING|NM_005307.2|4|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala142Val/c.425C>T|578|GRK4|protein_coding|CODING|NM_182982.2|5|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1738,0.3833,0.4016,0.45,0.60,0.38,,0.000749(N),1.000(P),"4.65,4.65,4.65,4.65(T,T,T,T)",0.0000(T),0.043,0.553558,4.65,2.11,-0.254000,0.052000,0.527000,0.600000,0.042000,0.026000,7.587
missense_variant,GRK4,MISSENSE,NM_182982.2:p.Val486Ala/c.1457T>C,gTg/gCg,MODERATE,COSM3760573(1),0.693291,0.5337,rs1801058,0.08(T),"0.002,0.001,0.003,0.001(B,B,B,B)",0.345(N),-0.9588(T),,chr4,3039150,3039150,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val454Ala/c.1361T>C|546|GRK4|protein_coding|CODING|NM_001004056.1|13|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val486Ala/c.1457T>C|532|GRK4|protein_coding|CODING|NM_001004057.1|14|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val454Ala/c.1361T>C|500|GRK4|protein_coding|CODING|NM_005307.2|13|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val486Ala/c.1457T>C|578|GRK4|protein_coding|CODING|NM_182982.2|14|1)","NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HMEC:CTCF,K562:H3K27me3,NHEK:H3K27me3,NH-A:CTCF,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.728,0.6427,0.5696,0.68,0.85,0.59,,0.001032(N),1.000(P),"1.86,1.86,1.86,1.86(T,T,T,T)",0.0000(T),0.019,1.459936,4.73,-6.21,-1.430000,-2.045000,1.985000,0.000000,0.000000,0.007000,13.1461
missense_variant,HTT,MISSENSE,NM_002111.7:p.Gln36Pro/c.107A>C,cAg/cCg,MODERATE,,,,,0.28(T),0.0(B),0(N),-0.9851(T),,chr4,3076659,3076659,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln36Pro/c.107A>C|3142|HTT|protein_coding|CODING|NM_002111.7|1|1),upstream_gene_variant(MODIFIER||418|||HTT-AS||NON_CODING|NR_045414.1||1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,,1.000(N),2.05(T),0.0216(T),0.306,-1.614452,0.538,-0.648,0.138000,-0.308000,0.173000,0.032000,0.001000,0.992000,.
missense_variant,HTT,MISSENSE,NM_002111.7:p.Gln37Pro/c.110A>C,cAa/cCa,MODERATE,,,,rs61792465,0.41(T),0.0(B),-0.69(N),-0.9863(T),,chr4,3076662,3076662,A,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln37Pro/c.110A>C|3142|HTT|protein_coding|CODING|NM_002111.7|1|1),upstream_gene_variant(MODIFIER||421|||HTT-AS||NON_CODING|NR_045414.1||1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,,1.000(N),1.87(T),0.0186(T),0.29,-1.365168,0.781,-1.56,0.138000,-0.501000,0.206000,0.022000,0.001000,0.965000,2.9925
missense_variant,HTT,MISSENSE,NM_002111.7:p.Gln38Pro/c.113A>C,cAg/cCg,MODERATE,,,,rs61792466,0.27(T),0.0(B),0.69(N),-1.0181(T),,chr4,3076665,3076665,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln38Pro/c.113A>C|3142|HTT|protein_coding|CODING|NM_002111.7|1|1),upstream_gene_variant(MODIFIER||424|||HTT-AS||NON_CODING|NR_045414.1||1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,,1.000(N),1.93(T),0.0329(T),0.297,-1.491255,1.52,-3.03,-1.193000,-1.301000,0.796000,0.006000,0.000000,0.979000,6.0301
synonymous_variant,HTT,SILENT,NM_002111.7:p.Leu1267Leu/c.3801C>T,ctC/ctT,LOW,COSM447790(2),0.213858,0.3442,rs363099,,,,,,chr4,3162056,3162056,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1267Leu/c.3801C>T|3142|HTT|protein_coding|CODING|NM_002111.7|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.2882,0.3121,0.21,0.07,0.28,,,,,,,,,,,,,,,,
synonymous_variant,HTT,SILENT,NM_002111.7:p.Glu2197Glu/c.6591G>A,gaG/gaA,LOW,COSM3760579(1),0.239617,0.3542,rs362336,,,,,,chr4,3213832,3213832,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2197Glu/c.6591G>A|3142|HTT|protein_coding|CODING|NM_002111.7|48|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2014,0.2939,0.3151,0.25,0.15,0.30,,,,,,,,,,,,,,,,
missense_variant,HTT,MISSENSE,NM_002111.7:p.Tyr2309His/c.6925T>C,Tac/Cac,MODERATE,COSM447793(2),0.441294,0.3859,rs362331,0.58(T),0.0(B),-1.355(N),-1.0243(T),,chr4,3215835,3215835,T,C,hom,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr2309His/c.6925T>C|3142|HTT|protein_coding|CODING|NM_002111.7|50|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.319,0.4294,0.4334,0.47,0.57,0.42,,0.000015(N),0.999(P),3.59(T),0.0000(T),0.275,1.118641,5.7,5.7,-0.119000,1.427000,3.175000,0.916000,1.000000,1.000000,8.2136
synonymous_variant,HTT,SILENT,NM_002111.7:p.Leu2392Leu/c.7176A>C,ctA/ctC,LOW,,0.984824,1,rs2857790,,,,,,chr4,3219613,3219613,A,C,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu2392Leu/c.7176A>C|3142|HTT|protein_coding|CODING|NM_002111.7|52|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HTT,SILENT,NM_002111.7:p.Leu2599Leu/c.7797A>G,ctA/ctG,LOW,COSM1429434(3),0.246406,0.3393,rs362273,,,,,,chr4,3227419,3227419,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu2599Leu/c.7797A>G|3142|HTT|protein_coding|CODING|NM_002111.7|57|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2035,0.304,0.3191,0.25,0.16,0.30,,,,,,,,,,,,,,,,
missense_variant,HTT,MISSENSE,NM_002111.7:p.Val2786Ile/c.8356G>A,Gtc/Atc,MODERATE,COSM447795(5),0.210264,0.3185,rs362272,0.9(T),0.002(B),0.06(N),-1.0092(T),,chr4,3234980,3234980,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val2786Ile/c.8356G>A|3142|HTT|protein_coding|CODING|NM_002111.7|61|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2127,0.2867,0.3091,0.22,0.07,0.30,,0.762867(N),1.000(P),-0.16(T),0.0000(T),0.171,0.301421,5.08,-4.25,-0.487000,-0.795000,1.389000,0.820000,0.006000,0.646000,12.9961
synonymous_variant,MSANTD1,SILENT,NM_001042690.1:p.Arg246Arg/c.738C>T,cgC/cgT,LOW,COSM3749872(11),0.257188,0.3343,rs362287,,,,,,chr4,3257593,3257593,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg246Arg/c.738C>T|278|MSANTD1|protein_coding|CODING|NM_001042690.1|3|1),"IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2566,0.3069,0.3787,0.23,0.12,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RGS12,SILENT,NM_198229.2:p.Ser172Ser/c.516A>G,tcA/tcG,LOW,COSM4159028(1),0.746006,0.6617,rs2236052,,,,,,chr4,3318413,3318413,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser172Ser/c.516A>G|1376|RGS12|protein_coding|CODING|NM_002926.3|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser172Ser/c.516A>G|1447|RGS12|protein_coding|CODING|NM_198229.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7546,0.6383,0.5895,0.71,0.91,0.60,,,,,,,,,,,,,,,,
synonymous_variant,RGS12,SILENT,NM_198229.2:p.Asp458Asp/c.1374C>T,gaC/gaT,LOW,COSM3760580(2),0.289337,0.2619,rs10006362,,,,,,chr4,3319271,3319271,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp458Asp/c.1374C>T|1376|RGS12|protein_coding|CODING|NM_002926.3|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp458Asp/c.1374C>T|1447|RGS12|protein_coding|CODING|NM_198229.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3231,0.2911,0.2475,0.28,0.33,0.26,,,,,,,,,,,,,,,,
synonymous_variant,HGFAC,SILENT,NM_001297439.1:p.Pro84Pro/c.252G>A,ccG/ccA,LOW,COSM447801(2),0.230631,0.372,rs2073504,,,,,,chr4,3444593,3444593,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro84Pro/c.252G>A|662|HGFAC|protein_coding|CODING|NM_001297439.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro84Pro/c.252G>A|655|HGFAC|protein_coding|CODING|NM_001528.3|2|1)","HepG2:H3K4me2,HepG2:H3K27ac,HepG2:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HepG2:H3K27me3",,,,0.1769,0.2291,0.175,0.18,0.21,0.16,,,,,,,,,,,,,,,,
missense_variant,HGFAC,MISSENSE,NM_001297439.1:p.Ala218Ser/c.652G>T,Gcc/Tcc,MODERATE,COSM3760587(1),0.133786,0.3085,rs3748034,0.38(T),"0.332,0.179(B,B)",1.43(L),-0.9028(T),,chr4,3446091,3446091,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala218Ser/c.652G>T|662|HGFAC|protein_coding|CODING|NM_001297439.1|6|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala218Ser/c.652G>T|655|HGFAC|protein_coding|CODING|NM_001528.3|6|1)","K562:H3K27me3,HepG2:H3K36me3",,,,0.1258,0.1124,0.1362,0.10,0.03,0.14,,0.000328(D),0.958(P),"2.03,2.03(T,T)",0.0000(T),0.105,2.194105,3.74,3.74,0.462000,1.925000,2.000000,0.591000,1.000000,0.998000,13.0704
missense_variant,HGFAC,MISSENSE,NM_001297439.1:p.Phe231Leu/c.693C>G,ttC/ttG,MODERATE,COSM3760588(2),0.734026,0.9236,rs1987546,0.33(T),"0.001,0.001(B,B)",0(N),-0.9762(T),,chr4,3446132,3446132,C,G,het,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe231Leu/c.693C>G|662|HGFAC|protein_coding|CODING|NM_001297439.1|6|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe231Leu/c.693C>G|655|HGFAC|protein_coding|CODING|NM_001528.3|6|1)","K562:H3K27me3,HepG2:H3K36me3",,,,0.6564,0.7262,0.7197,0.67,0.66,0.68,,0.067530(N),1.000(P),"1.19,1.19(T,T)",0.0000(T),0.079,-0.937015,3.61,-2.24,-0.647000,-0.409000,-3.770000,0.001000,0.001000,0.000000,8.6734
synonymous_variant,HGFAC,SILENT,NM_001297439.1:p.Glu563Glu/c.1689G>A,gaG/gaA,LOW,COSM4159033(2),0.278155,0.3581,rs28468427,,,,,,chr4,3449886,3449886,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu563Glu/c.1689G>A|662|HGFAC|protein_coding|CODING|NM_001297439.1|14|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu556Glu/c.1668G>A|655|HGFAC|protein_coding|CODING|NM_001528.3|13|1)","NHEK:H3K27me3,HepG2:H3K36me3",,,,0.184,0.3285,0.2336,0.24,0.27,0.23,,,,,,,,,,,,,,,,
missense_variant,HGFAC,MISSENSE,NM_001297439.1:p.Arg651Gln/c.1952G>A,cGg/cAg,MODERATE,COSM447808(1),0.067492,0.0476,rs2498323,0.65(T),"0.204,0.176(B,B)",-0.765(N),-0.7131(T),,chr4,3451109,3451109,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg651Gln/c.1952G>A|662|HGFAC|protein_coding|CODING|NM_001297439.1|15|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg644Gln/c.1931G>A|655|HGFAC|protein_coding|CODING|NM_001528.3|14|1)",H1ESC:H3K27me3,,,,0.0256,0.0893,0.0815,0.10,0.10,0.10,,0.211938(N),1.000(P),"-3.07,-3.07(D,D)",0.0138(T),0.164,1.351224,4.05,1.02,0.561000,0.349000,0.641000,0.139000,0.502000,0.093000,5.0764
synonymous_variant,DOK7,SILENT,NM_001301071.1:p.Leu74Leu/c.220T>C,Ttg/Ctg,LOW,,1,1,rs4325970,,,,,,chr4,3475252,3475252,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu74Leu/c.220T>C|255|DOK7|protein_coding|CODING|NM_001164673.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu74Leu/c.220T>C|608|DOK7|protein_coding|CODING|NM_001301071.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu74Leu/c.220T>C|504|DOK7|protein_coding|CODING|NM_173660.4|3|1)","H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADRA2C,SILENT,NM_000683.3:p.Ala311Ala/c.933G>C,gcG/gcC,LOW,COSM4159048(2),0.196685,0.1429,rs181208952,,,,,,chr4,3769266,3769266,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala311Ala/c.933G>C|462|ADRA2C|protein_coding|CODING|NM_000683.3|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1217,0.0908,0.0447,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADRA2C,SILENT,NM_000683.3:p.Gly389Gly/c.1167C>T,ggC/ggT,LOW,,0.189696,0.1389,rs111546772,,,,,,chr4,3769500,3769500,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly389Gly/c.1167C>T|462|ADRA2C|protein_coding|CODING|NM_000683.3|1|1),"NHEK:CTCF,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,0.1258,0.0879,0.0507,0.16,0.37,0.06,,,,,,,,,,,,,,,,
missense_variant,OTOP1,MISSENSE,NM_177998.1:p.Arg598Pro/c.1793G>C,cGa/cCa,MODERATE,,,,rs199742451,0(D),0.99(D),2.66(M),-0.1485(T),,chr4,4190576,4190576,C,G,het,missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg598Pro/c.1793G>C|612|OTOP1|protein_coding|CODING|NM_177998.1|6|1),"HepG2:RXRA,GM06990:H3K27me3,HepG2:p300,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HepG2:SP1,HUVEC:DNase1,NHEK:H3K27me3,HepG2:HNF4A,HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,,,,,,,,0.000000(D),1.000(D),0.56(T),0.3616(T),0.922,4.090179,3.59,3.59,0.536000,1.998000,7.093000,0.943000,0.999000,1.000000,15.7183
missense_variant,OTOP1,MISSENSE,NM_177998.1:p.Arg598Gly/c.1792C>G,Cga/Gga,MODERATE,COSM4005768(1),,,rs200368405,0(D),0.291(B),2.66(M),-0.7797(T),,chr4,4190577,4190577,G,C,het,missense_variant(MODERATE|MISSENSE|Cga/Gga|p.Arg598Gly/c.1792C>G|612|OTOP1|protein_coding|CODING|NM_177998.1|6|1),"HepG2:RXRA,GM06990:H3K27me3,HepG2:p300,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HepG2:SP1,HUVEC:DNase1,NHEK:H3K27me3,HepG2:HNF4A,HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,,,,,,,,0.000000(D),1.000(D),0.57(T),0.2008(T),0.914,2.326313,3.59,1.79,-0.335000,0.295000,5.960000,0.939000,0.999000,1.000000,7.98
missense_variant,OTOP1,MISSENSE,NM_177998.1:p.Pro592Ala/c.1774C>G,Cct/Gct,MODERATE,COSM1319338(3),,,rs79218997,0(D),1.0(D),2.66(M),-0.0999(T),,chr4,4190595,4190595,G,C,het,missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro592Ala/c.1774C>G|612|OTOP1|protein_coding|CODING|NM_177998.1|6|1),"HepG2:RXRA,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HepG2:SP1,HUVEC:DNase1,NHEK:H3K27me3,HepG2:HNF4A,HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,,,,,,,,0.000000(D),1.000(D),0.05(T),0.4316(T),0.65,3.502750,3.59,2.72,-0.414000,0.817000,8.968000,0.991000,1.000000,1.000000,12.3947
missense_variant,OTOP1,MISSENSE,NM_177998.1:p.Lys493Thr/c.1478A>C,aAg/aCg,MODERATE,COSM3760634(1),0.0607029,0.0298,rs34666677,0.59(T),0.016(B),0(N),-0.9747(T),,chr4,4199083,4199083,T,G,het,missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys493Thr/c.1478A>C|612|OTOP1|protein_coding|CODING|NM_177998.1|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1104,0.0591,0.1093,0.08,0.03,0.11,,0.006318(N),1.000(N),3.09(T),0.0003(T),0.062,0.144914,4.92,-0.201,-0.308000,-0.303000,0.700000,0.001000,0.000000,0.000000,3.7221
missense_variant,OTOP1,MISSENSE,NM_177998.1:p.Asp309Glu/c.927T>A,gaT/gaA,MODERATE,,0.66234,0.6647,rs2916414,1(T),0.076(B),0.14(N),-1.0049(T),,chr4,4199634,4199634,A,T,hom,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp309Glu/c.927T>A|612|OTOP1|protein_coding|CODING|NM_177998.1|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8303,0.5591,0.667,0.67,0.60,0.71,,0.039829(N),1.000(P),2.05(T),0.0000(T),0.068,-1.932489,4.8,-5.33,-0.836000,-1.054000,-2.103000,0.003000,0.000000,0.000000,4.277
synonymous_variant,OTOP1,SILENT,NM_177998.1:p.Gly202Gly/c.606A>G,ggA/ggG,LOW,,0.815296,0.7073,rs2920182,,,,,,chr4,4204299,4204299,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly202Gly/c.606A>G|612|OTOP1|protein_coding|CODING|NM_177998.1|4|1),"NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HMEC:DNase1,HepG2:H3K27me3",,,,0.8793,0.7507,0.7177,0.83,0.94,0.77,,,,,,,,,,,,,,,,
synonymous_variant,TMEM128,SILENT,NM_001297551.1:p.Arg7Arg/c.21G>A,cgG/cgA,LOW,,0.328674,0.4216,rs2272746,,,,,,chr4,4249909,4249909,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg7Arg/c.21G>A|165|TMEM128|protein_coding|CODING|NM_001297551.1|1|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg7Arg/c.21G>A|165|TMEM128|protein_coding|CODING|NM_001297552.1|1|1),5_prime_UTR_variant(MODIFIER||557|c.-557G>A|141|TMEM128|protein_coding|CODING|NM_032927.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,K562:DNase1,K562:Jund,GM12878:Sin3Ak20",,,,0.4274,0.3429,0.3559,,,,,,,,,,,,,,,,,,,
missense_variant,LYAR,MISSENSE,NM_001145725.1:p.His265Arg/c.794A>G,cAc/cGc,MODERATE,,0.999601,1,rs7376390,0.5(T),0.0(B),0(N),-0.9877(T),,chr4,4276132,4276132,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His265Arg/c.794A>G|379|LYAR|protein_coding|CODING|NM_001145725.1|7|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His265Arg/c.794A>G|379|LYAR|protein_coding|CODING|NM_017816.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.026216(N),1.000(P),"1.57,1.57(T,T)",0.0000(T),0.038,0.986890,5.15,1.24,0.402000,0.051000,0.566000,0.001000,0.000000,0.000000,5.9233
synonymous_variant,ZBTB49,SILENT,NM_145291.3:p.Ala258Ala/c.774C>T,gcC/gcT,LOW,,0.799521,0.7629,rs2916382,,,,,,chr4,4304337,4304337,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala258Ala/c.774C>T|765|ZBTB49|protein_coding|CODING|NM_145291.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7853,0.8761,0.8489,0.82,0.79,0.83,,,,,,,,,,,,,,,,
missense_variant,ZBTB49,MISSENSE,NM_145291.3:p.Tyr320Ser/c.959A>C,tAc/tCc,MODERATE,COSM4003086(1),0.202676,0.247,rs2920217,,,-2.125(N),-0.9318(T),,chr4,4304522,4304522,A,C,het,missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr320Ser/c.959A>C|765|ZBTB49|protein_coding|CODING|NM_145291.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1605,0.2896,0.2694,0.25,0.17,0.29,,,1.000(P),,0.0000(T),.,0.682838,5.57,-2.97,-0.187000,-1.381000,0.668000,0.023000,0.000000,0.050000,4.7855
synonymous_variant,MSX1,SILENT,NM_002448.3:p.Gly116Gly/c.348C>T,ggC/ggT,LOW,,0.0954473,0.0873,rs34165410,,,,,,chr4,4861974,4861974,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly116Gly/c.348C>T|303|MSX1|protein_coding|CODING|NM_002448.3|1|1),"K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3,K562:DNase1",,,,0.1851,0.0533,0.0497,0.05,0.07,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CYTL1,SILENT,NM_018659.2:p.Pro8Pro/c.24C>T,ccC/ccT,LOW,COSM3760654(1),0.086861,0.002,rs35263598,0.55(T),,,-1.0936(T),,chr4,5021149,5021149,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro8Pro/c.24C>T|136|CYTL1|protein_coding|CODING|NM_018659.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1247,0.0778,0.1352,0.13,0.09,0.14,,0.696080(N),1.000(P),1.79(T),0.0003(T),.,0.447819,4.76,-9.52,-2.786000,-3.354000,-3.025000,0.017000,0.000000,0.000000,2.9047
synonymous_variant,STK32B,SILENT,NM_018401.1:p.Glu135Glu/c.405G>A,gaG/gaA,LOW,COSM3760657(1),0.0842652,0.0397,rs16837029,,,,,,chr4,5333091,5333091,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu135Glu/c.405G>A|414|STK32B|protein_coding|CODING|NM_018401.1|4|1),IMR90:H3K36me3,,,,0.046,0.0245,0.0328,0.07,0.17,0.03,,,,,,,,,,,,,,,,
missense_variant,STK32B,MISSENSE,NM_018401.1:p.Arg198Gly/c.592A>G,Aga/Gga,MODERATE,,0.25599,0.5437,rs3733182,0.41(T),0.0(B),0.33(N),-0.9308(T),,chr4,5448429,5448429,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg198Gly/c.592A>G|414|STK32B|protein_coding|CODING|NM_018401.1|7|1),,,,,0.3241,0.1671,0.1093,0.13,0.17,0.11,,0.000785(N),1.000(P),"-0.08,-0.08,-0.08(T,T,T)",0.0000(T),0.1,1.653571,5.39,5.39,-0.215000,1.288000,4.292000,0.628000,0.998000,1.000000,12.1606
synonymous_variant,EVC,SILENT,NM_153717.2:p.Leu257Leu/c.769C>T,Cta/Tta,LOW,,0.966653,0.999,rs6446393,,,,,,chr4,5743509,5743509,C,T,hom,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu257Leu/c.769C>T|992|EVC|protein_coding|CODING|NM_153717.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9029,0.9827,0.9443,0.95,0.99,0.94,,,,,,,,,,,,,,,,
missense_variant,EVC,MISSENSE,NM_153717.2:p.Tyr258His/c.772T>C,Tac/Cac,MODERATE,,0.744808,0.9048,rs6414624,0.44(T),0.016(B),1.735(L),-1.0055(T),,chr4,5743512,5743512,T,C,hom,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr258His/c.772T>C|992|EVC|protein_coding|CODING|NM_153717.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8313,0.7839,0.7932,0.71,0.52,0.80,,0.402567(N),1.000(P),"0.51,0.51,0.64(T,T,T)",0.0000(T),0.116,0.309460,5.12,2.72,0.533000,0.309000,1.926000,0.188000,0.785000,0.946000,8.084
synonymous_variant,EVC,SILENT,NM_153717.2:p.Leu356Leu/c.1068A>G,ctA/ctG,LOW,,0.217452,0.2044,rs33929747,,,,,,chr4,5750003,5750003,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu356Leu/c.1068A>G|992|EVC|protein_coding|CODING|NM_153717.2|8|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.2025,0.3444,0.3608,0.27,0.11,0.36,,,,,,,,,,,,,,,,
missense_variant,EVC,MISSENSE,NM_153717.2:p.Thr449Lys/c.1346C>A,aCg/aAg,MODERATE,,0.844649,0.8254,rs2302075,1(T),0.0(B),-1.78(N),-0.9703(T),,chr4,5755542,5755542,C,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr449Lys/c.1346C>A|992|EVC|protein_coding|CODING|NM_153717.2|10|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:Cjun,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,HUVEC:Cmyc,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,GM06990:H3K36me3,NHEK:DNase1",,,,0.7996,0.7334,0.7932,0.85,0.95,0.80,,0.555189(N),1.000(P),"0.81,0.81,0.87(T,T,T)",0.0000(T),0.047,-1.486366,5.04,-0.274,-0.363000,-0.277000,0.313000,0.392000,0.002000,0.010000,1.0659
missense_variant,EVC,MISSENSE,NM_153717.2:p.Arg576Gln/c.1727G>A,cGg/cAg,MODERATE,COSM3760684(1),0.301518,0.3254,rs1383180,0.13(T),0.995(D),2.045(M),-0.9276(T),,chr4,5785442,5785442,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg576Gln/c.1727G>A|992|EVC|protein_coding|CODING|NM_153717.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2198,0.4726,0.3996,0.31,0.20,0.36,,0.025114(N),0.000(P),"0.47,0.47(T,T)",0.0000(T),0.103,3.248776,4.94,4.1,0.557000,1.085000,4.544000,0.393000,0.841000,1.000000,8.8367
synonymous_variant,CRMP1,SILENT,NM_001014809.2:p.Thr477Thr/c.1431G>C,acG/acC,LOW,COSM447986(2),0.588658,0.6002,rs12331,,,,,,chr4,5838513,5838513,C,G,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr477Thr/c.1431G>C|686|CRMP1|protein_coding|CODING|NM_001014809.2|10|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr361Thr/c.1083G>C|570|CRMP1|protein_coding|CODING|NM_001288661.1|10|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr357Thr/c.1071G>C|566|CRMP1|protein_coding|CODING|NM_001288662.1|10|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr363Thr/c.1089G>C|572|CRMP1|protein_coding|CODING|NM_001313.4|10|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.4479,0.4035,0.4066,0.58,0.84,0.45,,,,,,,,,,,,,,,,
synonymous_variant,WFS1,SILENT,NM_001145853.1:p.Arg228Arg/c.684C>G,cgC/cgG,LOW,COSM448012(1),0.75639,0.9038,rs1801213,,,,-1.0340(T),,chr4,6293696,6293696,C,G,hom,"synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg228Arg/c.684C>G|890|WFS1|protein_coding|CODING|NM_001145853.1|6|1),synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg228Arg/c.684C>G|890|WFS1|protein_coding|CODING|NM_006005.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000038665.3,,0.773,0.7378,0.6849,0.68,0.67,0.68,,,0.000(P),,0.0000(T),.,1.324588,4.37,1.53,-0.216000,0.069000,-0.097000,0.974000,0.994000,0.811000,6.9398
missense_variant,WFS1,MISSENSE,NM_001145853.1:p.Val333Ile/c.997G>A,Gtc/Atc,MODERATE,,0.884385,0.995,rs1801212,0.92(T),0.0(B),-1.935(N),-0.9464(T),,chr4,6302519,6302519,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val333Ile/c.997G>A|890|WFS1|protein_coding|CODING|NM_001145853.1|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val333Ile/c.997G>A|890|WFS1|protein_coding|CODING|NM_006005.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000038668.3,,0.8579,0.7767,0.7296,0.80,0.95,0.72,,0.000000(N),1.000(P),"-1.98,-1.98(D,D)",0.0000(T),0.177,-0.782904,4.6,3.4,-0.376000,0.169000,3.738000,0.905000,1.000000,1.000000,8.3817
synonymous_variant,WFS1,SILENT,NM_001145853.1:p.Val395Val/c.1185C>T,gtC/gtT,LOW,,0.641573,0.9038,rs1801206,,,,,,chr4,6302707,6302707,C,T,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val395Val/c.1185C>T|890|WFS1|protein_coding|CODING|NM_001145853.1|8|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val395Val/c.1185C>T|890|WFS1|protein_coding|CODING|NM_006005.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000038635.4,,0.636,0.6715,0.6213,0.55,0.46,0.60,,,,,,,,,,,,,,,,
synonymous_variant,WFS1,SILENT,NM_001145853.1:p.Asn500Asn/c.1500C>T,aaC/aaT,LOW,,0.729433,0.9077,rs1801214,,,,,,chr4,6303022,6303022,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn500Asn/c.1500C>T|890|WFS1|protein_coding|CODING|NM_001145853.1|8|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn500Asn/c.1500C>T|890|WFS1|protein_coding|CODING|NM_006005.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Type_2_diabetes,RCV000038641.4,,0.7106,0.7046,0.6352,0.63,0.68,0.61,,,,,,,,,,,,,,,,
missense_variant,WFS1,MISSENSE,NM_001145853.1:p.Arg611His/c.1832G>A,cGc/cAc,MODERATE,COSM149634(3),0.469249,0.8105,rs734312,0.1(T),0.04(B),2.52(M),-0.9123(T),,chr4,6303354,6303354,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg611His/c.1832G>A|890|WFS1|protein_coding|CODING|NM_001145853.1|8|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg611His/c.1832G>A|890|WFS1|protein_coding|CODING|NM_006005.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000038646.4,,0.5573,0.5476,0.5626,0.40,0.12,0.55,,0.000013(N),0.001(P),"-3.25,-3.25(D,D)",0.0000(T),0.38,0.680750,5.41,4.57,-0.258000,1.295000,4.704000,0.153000,0.983000,1.000000,13.2566
synonymous_variant,WFS1,SILENT,NM_001145853.1:p.Lys811Lys/c.2433G>A,aaG/aaA,LOW,COSM3760688(4),0.653155,0.9038,rs1046314,,,,,,chr4,6303955,6303955,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys811Lys/c.2433G>A|890|WFS1|protein_coding|CODING|NM_001145853.1|8|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys811Lys/c.2433G>A|890|WFS1|protein_coding|CODING|NM_006005.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000038659.4,,0.635,0.6772,0.6213,0.57,0.51,0.60,,,,,,,,,,,,,,,,
synonymous_variant,WFS1,SILENT,NM_001145853.1:p.Ser855Ser/c.2565A>G,tcA/tcG,LOW,COSM448013(3),0.779952,0.9038,rs1046316,,,,,,chr4,6304087,6304087,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser855Ser/c.2565A>G|890|WFS1|protein_coding|CODING|NM_001145853.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser855Ser/c.2565A>G|890|WFS1|protein_coding|CODING|NM_006005.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000038660.4,,0.771,0.7478,0.6859,0.71,0.76,0.69,,,,,,,,,,,,,,,,
synonymous_variant,PPP2R2C,SILENT,NM_020416.3:p.Ile429Ile/c.1287C>T,atC/atT,LOW,COSM3760689(1),0.653754,0.9385,rs3796403,,,,,,chr4,6325086,6325086,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile422Ile/c.1266C>T|440|PPP2R2C|protein_coding|CODING|NM_001206994.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile422Ile/c.1266C>T|440|PPP2R2C|protein_coding|CODING|NM_001206995.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile412Ile/c.1236C>T|430|PPP2R2C|protein_coding|CODING|NM_001206996.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile429Ile/c.1287C>T|447|PPP2R2C|protein_coding|CODING|NM_020416.3|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile429Ile/c.1287C>T|447|PPP2R2C|protein_coding|CODING|NM_181876.2|9|1)","GM06990:H3K27me3,HepG2:H3K27ac,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:DNase1",,,,0.7382,0.6614,0.5795,0.54,0.46,0.59,,,,,,,,,,,,,,,,
missense_variant,MAN2B2,MISSENSE,NM_015274.2:p.Gln243Pro/c.728A>C,cAa/cCa,MODERATE,COSM448019(1),0.433906,0.6141,rs2301796,,,-0.66(N),-0.9691(T),,chr4,6594947,6594947,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln243Pro/c.728A>C|958|MAN2B2|protein_coding|CODING|NM_001292038.1|6|1),missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln243Pro/c.728A>C|1009|MAN2B2|protein_coding|CODING|NM_015274.2|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5399,0.4841,0.4543,0.39,0.23,0.47,,,1.000(P),,0.0000(T),.,0.480416,4.7,-9.4,-0.232000,-2.218000,0.375000,0.361000,0.000000,0.000000,3.2177
missense_variant,MAN2B2,MISSENSE,NM_015274.2:p.Met446Val/c.1336A>G,Atg/Gtg,MODERATE,COSM448020(3),0.499401,0.6141,rs2301790,0.84(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9394(T),,chr4,6600012,6600012,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met395Val/c.1183A>G|958|MAN2B2|protein_coding|CODING|NM_001292038.1|9|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met446Val/c.1336A>G|1009|MAN2B2|protein_coding|CODING|NM_015274.2|9|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5102,0.5101,0.4483,0.46,0.46,0.47,,0.000000(N),1.000(P),"-0.76,-0.76(T,T)",0.0000(T),0.273,-1.853728,4.86,4.02,-0.735000,0.465000,3.887000,0.003000,0.022000,0.996000,10.3179
missense_variant,MAN2B2,MISSENSE,NM_015274.2:p.Asn541Ser/c.1622A>G,aAc/aGc,MODERATE,COSM448022(2),0.535743,0.6151,rs2301788,0.4(T),"0.001,0.001,0.0(B,B,B)",-1.245(N),-0.9623(T),,chr4,6606864,6606864,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn490Ser/c.1469A>G|958|MAN2B2|protein_coding|CODING|NM_001292038.1|11|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn541Ser/c.1622A>G|1009|MAN2B2|protein_coding|CODING|NM_015274.2|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5757,0.5159,0.495,0.50,0.49,0.51,,0.402386(N),1.000(P),"-1.12,-1.12(T,T)",0.0000(T),0.09,0.285181,4.28,-1.52,-0.320000,-0.588000,-0.287000,0.038000,0.000000,0.000000,3.2455
missense_variant,MAN2B2,MISSENSE,NM_015274.2:p.Gly624Arg/c.1870G>A,Ggg/Agg,MODERATE,COSM3760691(1),0.0361422,0.001,rs61733402,0.03(D),"0.957,0.936,0.763(D,D,P)",1.87(L),-0.9030(T),,chr4,6610889,6610889,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly573Arg/c.1717G>A|958|MAN2B2|protein_coding|CODING|NM_001292038.1|12|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly624Arg/c.1870G>A|1009|MAN2B2|protein_coding|CODING|NM_015274.2|12|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0573,0.0389,0.0885,0.07,0.02,0.10,,0.098165(N),1.000(N),"-1.24,-1.24(T,T)",0.0282(T),0.522,4.376100,4.36,0.289,0.313000,-0.356000,2.922000,0.904000,0.000000,0.985000,5.3779
synonymous_variant,MAN2B2,SILENT,NM_015274.2:p.Leu920Leu/c.2760A>G,ctA/ctG,LOW,,0.980032,1,rs4689489,,,,-1.0044(T),,chr4,6619165,6619165,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu869Leu/c.2607A>G|958|MAN2B2|protein_coding|CODING|NM_001292038.1|17|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu920Leu/c.2760A>G|1009|MAN2B2|protein_coding|CODING|NM_015274.2|17|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9847,0.9914,1,0.98,0.95,1.00,,,0.000(P),,0.0000(T),.,0.369436,4.88,1.71,-0.726000,0.145000,1.053000,0.429000,0.996000,1.000000,9.1994
synonymous_variant,MAN2B2,SILENT,NM_015274.2:p.Val933Val/c.2799G>A,gtG/gtA,LOW,,0.688498,0.9038,rs4689490,,,,,,chr4,6619204,6619204,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val882Val/c.2646G>A|958|MAN2B2|protein_coding|CODING|NM_001292038.1|17|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val933Val/c.2799G>A|1009|MAN2B2|protein_coding|CODING|NM_015274.2|17|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7342,0.8444,0.8618,0.70,0.37,0.87,,,,,,,,,,,,,,,,
synonymous_variant,S100P,SILENT,NM_005980.2:p.Asp62Asp/c.186T>C,gaT/gaC,LOW,,0.999601,1,rs11734898,,,,,,chr4,6698667,6698667,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp62Asp/c.186T>C|95|S100P|protein_coding|CODING|NM_005980.2|2|1),"CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,HepG2:PolII,CD4:H3K36ac,CD4:H3K4me1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,CD4:PolII,CD4:H2BK120ac,CD4:H2BK12ac",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,S100P,SILENT,NM_005980.2:p.Ile75Ile/c.225A>C,atA/atC,LOW,,0.984026,1,rs11733989,,,,,,chr4,6698706,6698706,A,C,hom,synonymous_variant(LOW|SILENT|atA/atC|p.Ile75Ile/c.225A>C|95|S100P|protein_coding|CODING|NM_005980.2|2|1),"CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,HepG2:PolII,CD4:H3K36ac,CD4:H3K4me1,CD4:H3K4ac,HepG2:H3K36me3,CD4:PolII,CD4:H2BK120ac,CD4:H2BK12ac",,,,1,0.9885,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CCDC96,SILENT,NM_153376.2:p.Val103Val/c.309T>C,gtT/gtC,LOW,COSM3749881(9),0.965056,1,rs871133,,,,,,chr4,7044357,7044357,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val103Val/c.309T>C|555|CCDC96|protein_coding|CODING|NM_153376.2|1|1),upstream_gene_variant(MODIFIER||799||420|TADA2B|protein_coding|CODING|NM_152293.2||1),intron_variant(MODIFIER|||n.696+2350T>C||LOC100129931||NON_CODING|NR_033828.1|2|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:E2F6,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:SP1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,1,0.9856,0.9702,0.97,0.93,0.98,,,,,,,,,,,,,,,,
missense_variant,CCDC96,MISSENSE,NM_153376.2:p.Glu96Lys/c.286G>A,Gag/Aag,MODERATE,COSM3749882(12),0.511382,0.6429,rs871134,0.57(T),0.004(B),0.975(L),-0.9251(T),,chr4,7044380,7044380,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu96Lys/c.286G>A|555|CCDC96|protein_coding|CODING|NM_153376.2|1|1),upstream_gene_variant(MODIFIER||776||420|TADA2B|protein_coding|CODING|NM_152293.2||1),intron_variant(MODIFIER|||n.696+2327G>A||LOC100129931||NON_CODING|NR_033828.1|2|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,NHEK:H3K4me3,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:E2F6,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:SP1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.5286,0.4741,0.5845,0.62,0.55,0.65,,0.825735(N),0.998(P),0.57(T),0.0000(T),0.036,1.319932,3.13,2.24,0.471000,0.602000,0.781000,0.036000,0.000000,0.001000,4.8536
synonymous_variant,PSAPL1,SILENT,NM_001085382.1:p.Leu410Leu/c.1228T>C,Ttg/Ctg,LOW,COSM4159169(1),0.988019,1,rs4689746,,,,,,chr4,7435379,7435379,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu410Leu/c.1228T>C|521|PSAPL1|protein_coding|CODING|NM_001085382.1|1|1),intron_variant(MODIFIER|||c.548+37297A>G|1159|SORCS2|protein_coding|CODING|NM_020777.2|2|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PSAPL1,SILENT,NM_001085382.1:p.Pro244Pro/c.732G>A,ccG/ccA,LOW,,0.00579073,0,rs182795537,,,,,,chr4,7435875,7435875,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro244Pro/c.732G>A|521|PSAPL1|protein_coding|CODING|NM_001085382.1|1|1),intron_variant(MODIFIER|||c.548+37793C>T|1159|SORCS2|protein_coding|CODING|NM_020777.2|2|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0.0029,0,0.01,0.02,0.00,,,,,,,,,,,,,,,,
synonymous_variant,PSAPL1,SILENT,NM_001085382.1:p.Cys64Cys/c.192C>T,tgC/tgT,LOW,,0.000199681,0,rs202190989,,,,,,chr4,7436415,7436415,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys64Cys/c.192C>T|521|PSAPL1|protein_coding|CODING|NM_001085382.1|1|1),intron_variant(MODIFIER|||c.548+38333G>A|1159|SORCS2|protein_coding|CODING|NM_020777.2|2|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,SORCS2,SILENT,NM_020777.2:p.Asp633Asp/c.1899T>C,gaT/gaC,LOW,,0.846046,0.999,rs4689833,,,,,,chr4,7714490,7714490,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp633Asp/c.1899T>C|1159|SORCS2|protein_coding|CODING|NM_020777.2|15|1),"GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9243,0.7997,0.7266,0.74,0.81,0.71,,,,,,,,,,,,,,,,
missense_variant,SORCS2,MISSENSE,NM_020777.2:p.Ser716Pro/c.2146T>C,Tcc/Ccc,MODERATE,,0.938898,0.999,rs6816604,0.36(T),"0.0,0.0(B,B)",-0.06(N),-1.0530(T),,chr4,7716932,7716932,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser716Pro/c.2146T>C|1159|SORCS2|protein_coding|CODING|NM_020777.2|17|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9785,0.9611,0.9583,0.92,0.86,0.94,,0.338642(N),1.000(P),"2.45,2.46(T,T)",0.0000(T),0.042,-0.629659,3.71,-2.11,-0.119000,-0.582000,0.387000,0.052000,0.000000,0.000000,0.7409
synonymous_variant,SORCS2,SILENT,NM_020777.2:p.Leu742Leu/c.2226G>A,ctG/ctA,LOW,COSM4003144(2),0.32528,0.2639,rs2285781,,,,,,chr4,7717012,7717012,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu742Leu/c.2226G>A|1159|SORCS2|protein_coding|CODING|NM_020777.2|17|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3303,0.4193,0.5736,0.45,0.20,0.58,,,,,,,,,,,,,,,,
synonymous_variant,AFAP1,SILENT,NM_001134647.1:p.Arg756Arg/c.2266C>A,Cgg/Agg,LOW,COSM3760752(1),0.370208,0.6567,rs2285761,,,,,,chr4,7770723,7770723,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg756Arg/c.2266C>A|814|AFAP1|protein_coding|CODING|NM_001134647.1|17|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg672Arg/c.2014C>A|730|AFAP1|protein_coding|CODING|NM_198595.2|16|1),intron_variant(MODIFIER|||n.71-3208G>T||AFAP1-AS1||NON_CODING|NR_026892.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4325,0.3372,0.1849,0.21,0.24,0.19,,,,,,,,,,,,,,,,
missense_variant,AFAP1,MISSENSE,NM_001134647.1:p.Val602Met/c.1804G>A,Gtg/Atg,MODERATE,COSM4003148(2),0.110623,0.0615,rs41264705,0.1(T),"0.036,0.075(B,B)",1.39(L),-0.9458(T),,chr4,7780582,7780582,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val602Met/c.1804G>A|814|AFAP1|protein_coding|CODING|NM_001134647.1|14|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val518Met/c.1552G>A|730|AFAP1|protein_coding|CODING|NM_198595.2|13|1),non_coding_exon_variant(MODIFIER|||n.6722C>T||AFAP1-AS1||NON_CODING|NR_026892.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0777,0.1455,0.2992,0.22,0.05,0.30,,0.125536(N),1.000(P),"2.48,2.46,2.48,2.46(T,T,T,T)",0.0000(T),0.024,0.796722,4.66,-0.23,-0.742000,-0.038000,-0.488000,0.647000,0.001000,0.000000,5.8903
synonymous_variant,AFAP1,SILENT,NM_001134647.1:p.Ser574Ser/c.1722C>T,tcC/tcT,LOW,,0.625399,0.8036,rs28542374,,,,,,chr4,7783163,7783163,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser574Ser/c.1722C>T|814|AFAP1|protein_coding|CODING|NM_001134647.1|13|1),intron_variant(MODIFIER|||c.1531-2560C>T|730|AFAP1|protein_coding|CODING|NM_198595.2|12|1)","CD4:H3K9me1,CD4:H2AZ,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,CD4:H4K8ac,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:Cmyc,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,HUVEC:H3K4me1,CD4:H3K4me2,HeLa-S3:H3K36me3,HUVEC:H3K27ac,K562:DNase1",,,,0.6074,0.7176,0.6382,0.60,0.47,0.65,,,,,,,,,,,,,,,,
synonymous_variant,AFAP1,SILENT,NM_001134647.1:p.Thr381Thr/c.1143C>T,acC/acT,LOW,COSM4003149(1),0.111621,0.0615,rs11728778,,,,,,chr4,7802292,7802292,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr381Thr/c.1143C>T|814|AFAP1|protein_coding|CODING|NM_001134647.1|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr381Thr/c.1143C>T|730|AFAP1|protein_coding|CODING|NM_198595.2|10|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0757,0.1484,0.3042,0.22,0.06,0.30,,,,,,,,,,,,,,,,
synonymous_variant,AFAP1,SILENT,NM_001134647.1:p.Pro99Pro/c.297G>A,ccG/ccA,LOW,,0.178115,0.0645,rs61742221,,,,,,chr4,7857230,7857230,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro99Pro/c.297G>A|814|AFAP1|protein_coding|CODING|NM_001134647.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro99Pro/c.297G>A|730|AFAP1|protein_coding|CODING|NM_198595.2|4|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,CD4:H2BK12ac",,,,0.1493,0.2464,0.4443,0.32,0.10,0.44,,,,,,,,,,,,,,,,
synonymous_variant,ABLIM2,SILENT,NM_001130083.1:p.Cys360Cys/c.1080T>C,tgT/tgC,LOW,,0.733626,0.7808,rs2385904,,,,,,chr4,8031471,8031471,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys360Cys/c.1080T>C|645|ABLIM2|protein_coding|CODING|NM_001130083.1|11|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys360Cys/c.1080T>C|611|ABLIM2|protein_coding|CODING|NM_001130084.1|11|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys360Cys/c.1080T>C|572|ABLIM2|protein_coding|CODING|NM_001130085.1|11|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys360Cys/c.1080T>C|559|ABLIM2|protein_coding|CODING|NM_001130086.1|11|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys371Cys/c.1113T>C|531|ABLIM2|protein_coding|CODING|NM_001130087.1|12|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys371Cys/c.1113T>C|470|ABLIM2|protein_coding|CODING|NM_001130088.1|12|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys128Cys/c.384T>C|346|ABLIM2|protein_coding|CODING|NM_001286688.1|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys360Cys/c.1080T>C|521|ABLIM2|protein_coding|CODING|NM_032432.4|11|1)","GM12878:H3K36me3,NH-A:H3K27me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,HMEC:H3K4me1,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.6237,0.732,0.7425,0.75,0.80,0.73,,,,,,,,,,,,,,,,
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Pro54Pro/c.162A>G,ccA/ccG,LOW,COSM448207(3),0.456669,0.3036,rs2677605,,,,,,chr4,8207083,8207083,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro54Pro/c.162A>G|1336|SH3TC1|protein_coding|CODING|NM_018986.3|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4008,0.4669,0.5348,0.56,0.57,0.55,,,,,,,,,,,,,,,,
missense_variant,SH3TC1,MISSENSE,NM_018986.3:p.Asp291Asn/c.871G>A,Gac/Aac,MODERATE,,0.00698882,0.001,rs1281138,0.4(T),0.008(B),1.355(L),-1.0188(T),,chr4,8220029,8220029,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp291Asn/c.871G>A|1336|SH3TC1|protein_coding|CODING|NM_018986.3|8|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0159,0.0229,0.02,0.01,0.03,,0.054416(N),1.000(N),"2.29,2.29,2.29(T,T,T)",0.0113(T),0.039,1.425684,3.53,2.68,0.561000,0.833000,1.468000,0.156000,0.002000,0.005000,8.1531
missense_variant,SH3TC1,MISSENSE,NM_018986.3:p.Leu437Pro/c.1310T>C,cTg/cCg,MODERATE,,0.969249,1,rs1281145,0.94(T),0.001(B),-1.67(N),-0.9815(T),,chr4,8228731,8228731,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu437Pro/c.1310T>C|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.987,1,0.97,0.91,1.00,,0.978778(N),1.000(P),"0.99,0.99(T,T)",0.0000(T),0.103,-1.593317,4.49,1.04,-1.071000,-0.293000,-0.339000,0.006000,0.000000,0.000000,10.0541
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Asp491Asp/c.1473T>C,gaT/gaC,LOW,COSM4159230(2),0.965455,0.999,rs1292647,,,,,,chr4,8228894,8228894,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp491Asp/c.1473T>C|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9856,0.999,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Leu599Leu/c.1797A>G,ctA/ctG,LOW,,0.981829,1,rs1281146,,,,,,chr4,8229218,8229218,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu599Leu/c.1797A>G|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Pro635Pro/c.1905T>C,ccT/ccC,LOW,COSM4159231(1),0.964457,1,rs1281147,,,,,,chr4,8229326,8229326,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro635Pro/c.1905T>C|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9856,0.999,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Gln764Gln/c.2292A>G,caA/caG,LOW,,0.516573,0.5139,rs1281148,,,,,,chr4,8229713,8229713,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln764Gln/c.2292A>G|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.681,0.5202,0.7177,0.61,0.33,0.76,,,,,,,,,,,,,,,,
missense_variant,SH3TC1,MISSENSE,NM_018986.3:p.Arg785Cys/c.2353C>T,Cgc/Tgc,MODERATE,COSM4159232(1),0.475639,0.5129,rs1281149,0.28(T),0.008(B),0.95(L),-0.9740(T),,chr4,8229774,8229774,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg785Cys/c.2353C>T|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6074,0.5274,0.7306,0.59,0.24,0.77,,0.017386(N),1.000(P),"-0.87,-0.87(T,T)",0.0000(T),0.18,-0.838249,4.14,1.91,0.462000,0.684000,0.549000,0.005000,0.007000,0.123000,2.8484
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Ala883Ala/c.2649T>C,gcT/gcC,LOW,COSM4159233(1),0.534145,0.5159,rs1281150,,,,,,chr4,8230070,8230070,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala883Ala/c.2649T>C|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.682,0.5259,0.7177,0.63,0.37,0.76,,,,,,,,,,,,,,,,
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Leu938Leu/c.2814T>C,ctT/ctC,LOW,COSM448222(3),0.55651,0.5169,rs1281151,,,,,,chr4,8230235,8230235,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu938Leu/c.2814T>C|1336|SH3TC1|protein_coding|CODING|NM_018986.3|12|1),"GM12878:USF1,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,CD4:H2BK5me1,GM12878:EBF,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM12878:Max,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,GM12878:Tcf12",,,,0.6667,0.549,0.7346,0.66,0.44,0.77,,,,,,,,,,,,,,,,
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Ala1265Ala/c.3795A>G,gcA/gcG,LOW,,0.984225,1,rs1281103,,,,,,chr4,8242466,8242466,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1265Ala/c.3795A>G|1336|SH3TC1|protein_coding|CODING|NM_018986.3|18|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SH3TC1,SILENT,NM_018986.3:p.Gln1276Gln/c.3828G>A,caG/caA,LOW,,0.0233626,0,rs1048506,,,,,,chr4,8242499,8242499,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1276Gln/c.3828G>A|1336|SH3TC1|protein_coding|CODING|NM_018986.3|18|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0644,0.0216,0.0378,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,TRMT44,MISSENSE,NM_152544.2:p.Arg352Gly/c.1054A>G,Aga/Gga,MODERATE,,0.749002,0.6528,rs1880024,1(T),"0.0,0.0(B,B)",-1.88(N),-0.9891(T),,chr4,8454639,8454639,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg352Gly/c.1054A>G|757|TRMT44|protein_coding|CODING|NM_152544.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8446,0.5778,0.673,,,,,0.000574(N),1.000(P),"1.68,1.68(T,T)",0.0000(T),0.094,-1.395925,5.02,3.09,-0.119000,0.487000,2.093000,0.527000,0.030000,1.000000,6.3408
synonymous_variant,GPR78,SILENT,NM_080819.4:p.Leu11Leu/c.33C>T,ctC/ctT,LOW,COSM3760792(1),0.138978,0.0228,rs17844776,,,,,,chr4,8582742,8582742,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu11Leu/c.33C>T|363|GPR78|protein_coding|CODING|NM_080819.4|1|1),intron_variant(MODIFIER|||n.468+311C>T||GPR78||CODING|NR_045511.2|1|1)","HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,K562:Nrsf,GM12878:Nrsf",,,,0.1585,0.2161,0.3231,0.25,0.08,0.33,,,,,,,,,,,,,,,,
synonymous_variant,GPR78,SILENT,NM_080819.4:p.Ser49Ser/c.147T>G,tcT/tcG,LOW,COSM3721970(3),0.151158,0.0238,rs17844777,,,,,,chr4,8582856,8582856,T,G,het,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser49Ser/c.147T>G|363|GPR78|protein_coding|CODING|NM_080819.4|1|1),intron_variant(MODIFIER|||n.468+425T>G||GPR78||CODING|NR_045511.2|1|1)","HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,K562:Nrsf,GM12878:Nrsf",,,,0.2188,0.2147,0.325,0.26,0.08,0.34,,,,,,,,,,,,,,,,
missense_variant,GPR78,MISSENSE,NM_080819.4:p.Arg201Ser/c.603A>C,agA/agC,MODERATE,COSM3749888(9),0.15016,0.0248,rs17844778,0.46(T),0.001(B),-1.04(N),-0.9356(T),,chr4,8583312,8583312,A,C,het,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg201Ser/c.603A>C|363|GPR78|protein_coding|CODING|NM_080819.4|1|1),intron_variant(MODIFIER|||n.468+881A>C||GPR78||CODING|NR_045511.2|1|1)","H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,K562:Nrsf,GM12878:Nrsf",,,,0.2178,0.2161,0.3231,0.23,0.07,0.31,,0.004095(N),1.000(P),1.02(T),0.0000(T),0.046,-1.434012,2.53,1.64,-0.648000,-0.378000,0.463000,0.067000,0.000000,0.998000,9.2648
synonymous_variant,CPZ,SILENT,NM_001014447.2:p.Pro4Pro/c.12G>C,ccG/ccC,LOW,COSM3749889(2),0.0810703,0.0327,rs76756393,,,,,,chr4,8594572,8594572,G,C,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro4Pro/c.12G>C|652|CPZ|protein_coding|CODING|NM_001014447.2|1|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro4Pro/c.12G>C|641|CPZ|protein_coding|CODING|NM_003652.3|1|1),5_prime_UTR_variant(MODIFIER||8568|c.-663G>C|515|CPZ|protein_coding|CODING|NM_001014448.2|1|1)","K562:H3K4me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,IMR90:H3K4me3,K562:DNase1",,,,0.1626,0.072,0.1471,0.10,0.03,0.13,,,,,,,,,,,,,,,,
missense_variant,CPZ,MISSENSE,NM_001014447.2:p.Leu5Pro/c.14T>C,cTg/cCg,MODERATE,COSM3760795(6),0.80611,0.9127,rs2302583,0.09(T),"0.0,0.0(B,B)",0(N),-0.9055(T),,chr4,8594574,8594574,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu5Pro/c.14T>C|652|CPZ|protein_coding|CODING|NM_001014447.2|1|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu5Pro/c.14T>C|641|CPZ|protein_coding|CODING|NM_003652.3|1|1),5_prime_UTR_variant(MODIFIER||8566|c.-661T>C|515|CPZ|protein_coding|CODING|NM_001014448.2|1|1)","K562:H3K4me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,IMR90:H3K4me3,K562:DNase1",,,,0.684,0.8761,0.7406,,,,,0.012429(N),1.000(P),"0.56,0.23(T,T)",0.0000(T),0.197,-0.146655,1.98,1.1,-0.355000,0.000000,-0.680000,0.045000,0.003000,0.000000,2.6287
missense_variant,CPZ,MISSENSE,NM_001014447.2:p.Arg19Pro/c.56G>C,cGg/cCg,MODERATE,,0.0972444,0.0476,rs79736750,0.22(T),"0.933,0.084(D,B)",0.55(N),-1.0703(T),,chr4,8594616,8594616,G,C,het,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg19Pro/c.56G>C|652|CPZ|protein_coding|CODING|NM_001014447.2|1|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg19Pro/c.56G>C|641|CPZ|protein_coding|CODING|NM_003652.3|1|1),5_prime_UTR_variant(MODIFIER||8524|c.-619G>C|515|CPZ|protein_coding|CODING|NM_001014448.2|1|1)","K562:H3K4me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.1943,0.0807,0.162,0.11,0.04,0.15,,0.000270(N),1.000(P),"0.68,0.35(T,T)",0.0009(T),0.262,1.134623,1.74,0.828,0.298000,0.272000,0.349000,0.102000,0.001000,0.015000,4.5504
synonymous_variant,CPZ,SILENT,NM_001014447.2:p.Ser52Ser/c.156T>C,agT/agC,LOW,COSM4159244(1),0.983427,1,rs4301095,,,,,,chr4,8602884,8602884,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser52Ser/c.156T>C|652|CPZ|protein_coding|CODING|NM_001014447.2|3|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser41Ser/c.123T>C|641|CPZ|protein_coding|CODING|NM_003652.3|2|1),5_prime_UTR_variant(MODIFIER||256|c.-256T>C|515|CPZ|protein_coding|CODING|NM_001014448.2|3|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,0.9986,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CPZ,SILENT,NM_001014447.2:p.Ser69Ser/c.207A>G,tcA/tcG,LOW,COSM4159245(1),0.983427,1,rs4431213,,,,,,chr4,8602935,8602935,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser69Ser/c.207A>G|652|CPZ|protein_coding|CODING|NM_001014447.2|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser58Ser/c.174A>G|641|CPZ|protein_coding|CODING|NM_003652.3|2|1),5_prime_UTR_variant(MODIFIER||205|c.-205A>G|515|CPZ|protein_coding|CODING|NM_001014448.2|3|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,0.9986,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,CPZ,MISSENSE,NM_001014447.2:p.Gln130Leu/c.389A>T,cAg/cTg,MODERATE,COSM3749890(5),0.101038,0.0446,rs35993494,1(T),"0.002,0.003(B,B)",-0.05(N),-1.0900(T),,chr4,8603117,8603117,A,T,het,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln130Leu/c.389A>T|652|CPZ|protein_coding|CODING|NM_001014447.2|3|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln119Leu/c.356A>T|641|CPZ|protein_coding|CODING|NM_003652.3|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||515|CPZ|protein_coding|CODING|NM_001014448.2|3|1),5_prime_UTR_variant(MODIFIER||23|c.-23A>T|515|CPZ|protein_coding|CODING|NM_001014448.2|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1963,0.0749,0.162,0.15,0.07,0.18,,0.565573(N),0.000(P),"-0.97,-0.97(T,T)",0.0003(T),0.055,0.193960,3.41,0.837,0.459000,-0.007000,0.639000,0.179000,0.977000,0.176000,4.2433
synonymous_variant,CPZ,SILENT,NM_001014447.2:p.Asp458Asp/c.1374T>C,gaT/gaC,LOW,,0.616813,0.87,rs1131140,,,,,,chr4,8616096,8616096,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp458Asp/c.1374T>C|652|CPZ|protein_coding|CODING|NM_001014447.2|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp321Asp/c.963T>C|515|CPZ|protein_coding|CODING|NM_001014448.2|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp447Asp/c.1341T>C|641|CPZ|protein_coding|CODING|NM_003652.3|8|1)","H1ESC:H3K36me3,GM06990:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.7096,0.6671,0.5517,0.50,0.43,0.53,,,,,,,,,,,,,,,,
missense_variant,CPZ,MISSENSE,NM_001014447.2:p.Ile486Thr/c.1457T>C,aTa/aCa,MODERATE,,0.995407,1,rs7378066,0.61(T),"0.0,0.0(B,B)",-1.385(N),-1.0124(T),,chr4,8616179,8616179,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile486Thr/c.1457T>C|652|CPZ|protein_coding|CODING|NM_001014447.2|9|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile349Thr/c.1046T>C|515|CPZ|protein_coding|CODING|NM_001014448.2|9|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile475Thr/c.1424T>C|641|CPZ|protein_coding|CODING|NM_003652.3|8|1)","H1ESC:H3K36me3,GM06990:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,1,1,0.99,0.98,1.00,,0.534580(N),1.000(P),"2.92,2.92,2.92,2.92(T,T,T,T)",0.0000(T),0.294,-0.810434,4.75,3.91,-0.215000,0.435000,1.021000,0.678000,0.003000,0.000000,7.0924
synonymous_variant,CPZ,SILENT,NM_001014447.2:p.Pro603Pro/c.1809A>G,ccA/ccG,LOW,COSM4159247(1),0.995407,0.999,rs28514374,,,,,,chr4,8621194,8621194,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro603Pro/c.1809A>G|652|CPZ|protein_coding|CODING|NM_001014447.2|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro466Pro/c.1398A>G|515|CPZ|protein_coding|CODING|NM_001014448.2|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro592Pro/c.1776A>G|641|CPZ|protein_coding|CODING|NM_003652.3|10|1)","H1ESC:H3K36me3,IMR90:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HMX1,SILENT,NM_018942.2:p.Ala293Ala/c.879A>G,gcA/gcG,LOW,COSM4159287(2),0.910743,0.9683,rs13303225,,,,,,chr4,8869587,8869587,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala293Ala/c.879A>G|348|HMX1|protein_coding|CODING|NM_018942.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8057,0.9366,0.9046,,,,,,,,,,,,,,,,,,,
missense_variant,LOC650293,MISSENSE,NM_001040071.1:p.Met114Val/c.340A>G,Atg/Gtg,MODERATE,,0.994209,1,rs3952877,,,,,,chr4,8951816,8951816,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met114Val/c.340A>G|216|LOC650293|protein_coding|CODING|NM_001040071.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.994,1.00,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,DRD5,SILENT,NM_000798.4:p.Pro326Pro/c.978C>T,ccC/ccT,LOW,COSM3760844(2),0.609026,0.6121,rs6283,,,,,,chr4,9784631,9784631,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro326Pro/c.978C>T|477|DRD5|protein_coding|CODING|NM_000798.4|1|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.59,0.6282,0.6302,,,,,,,,,,,,,,,,,,,
missense_variant,SLC2A9,MISSENSE,NM_020041.2:p.Pro350Leu/c.1049C>T,cCg/cTg,MODERATE,,0.271166,0.1994,rs2280205,,"0.009,0.015(B,B)",1.33(L),-0.9938(T),,chr4,9909923,9909923,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro321Leu/c.962C>T|511|SLC2A9|protein_coding|CODING|NM_001001290.1|9|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro350Leu/c.1049C>T|540|SLC2A9|protein_coding|CODING|NM_020041.2|8|1)","HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3579,0.4078,0.4841,0.38,0.10,0.52,,0.000000(N),1.000(P),"-0.89,-1.23,-0.89(T,T,T)",0.0000(T),0.088,0.084316,4.85,0.251,0.650000,0.061000,-0.066000,0.260000,0.005000,0.000000,4.8247
synonymous_variant,SLC2A9,SILENT,NM_020041.2:p.Leu189Leu/c.567T>C,ctT/ctC,LOW,,0.752396,0.9861,rs13125646,,,,,,chr4,9982330,9982330,A,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu160Leu/c.480T>C|511|SLC2A9|protein_coding|CODING|NM_001001290.1|6|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu189Leu/c.567T>C|540|SLC2A9|protein_coding|CODING|NM_020041.2|5|1)","HMEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8078,0.6254,0.8012,0.73,0.61,0.79,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A9,SILENT,NM_020041.2:p.Thr125Thr/c.375G>A,acG/acA,LOW,COSM149644(1),0.642173,0.506,rs10939650,,,,,,chr4,9998440,9998440,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr96Thr/c.288G>A|511|SLC2A9|protein_coding|CODING|NM_001001290.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr125Thr/c.375G>A|540|SLC2A9|protein_coding|CODING|NM_020041.2|3|1)","HMEC:H3K36me3,HSMM:DNase1,HepG2:FOSL2,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6411,0.5821,0.7525,0.73,0.68,0.75,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A9,SILENT,NM_020041.2:p.Leu108Leu/c.322T>C,Ttg/Ctg,LOW,,0.820687,0.9722,rs13113918,,,,,,chr4,9998493,9998493,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu79Leu/c.235T>C|511|SLC2A9|protein_coding|CODING|NM_001001290.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu108Leu/c.322T>C|540|SLC2A9|protein_coding|CODING|NM_020041.2|3|1)","HMEC:H3K36me3,HSMM:DNase1,HepG2:FOSL2,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8129,0.7219,0.8002,0.78,0.78,0.79,,,,,,,,,,,,,,,,
missense_variant,SLC2A9,MISSENSE,NM_020041.2:p.Gly25Arg/c.73G>A,Ggg/Agg,MODERATE,COSM149645(3),0.407348,0.4177,rs2276961,,0.002(B),0(N),-0.9846(T),,chr4,10022981,10022981,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly25Arg/c.73G>A|540|SLC2A9|protein_coding|CODING|NM_020041.2|1|1),intron_variant(MODIFIER|||c.64-2284G>A|511|SLC2A9|protein_coding|CODING|NM_001001290.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,HepG2:H3K4me2,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,HepG2:p300,HepG2:H3K27ac,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,HepG2:HEY1,HepG2:HNF4A,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.5992,0.4395,0.5278,0.43,0.22,0.54,,0.000033(N),1.000(P),-1.52(D),0.0000(T),0.06,1.465567,4.29,-0.398,-0.150000,-0.155000,-0.132000,0.001000,0.000000,0.000000,3.6685
missense_variant,SLC2A9,MISSENSE,NM_001001290.1:p.Ala17Thr/c.49G>A,Gcg/Acg,MODERATE,COSM4002865(1),0.26857,0.0972,rs6820230,,0.001(B),0.895(L),-0.9581(T),,chr4,10027542,10027542,C,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala17Thr/c.49G>A|511|SLC2A9|protein_coding|CODING|NM_001001290.1|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.0685,0.2205,0.2972,0.35,0.49,0.27,,,1.000(P),"-1.62,-1.62,-2.24(D,D,D)",0.0000(T),0.008,-0.125708,3.59,0.892,0.561000,0.155000,-0.100000,0.036000,0.000000,0.000000,3.6186
missense_variant,WDR1,MISSENSE,NM_017491.3:p.Ile185Val/c.553A>G,Att/Gtt,MODERATE,COSM4002877(1),0.57528,0.6538,rs13441,0.2(T),0.026(B),0.615(N),-0.9778(T),,chr4,10099340,10099340,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile185Val/c.553A>G|606|WDR1|protein_coding|CODING|NM_017491.3|5|1),intron_variant(MODIFIER|||c.139-8975A>G|466|WDR1|protein_coding|CODING|NM_005112.4|2|1)","H1ESC:H3K36me3,NH-A:H3K4me1,K562:PolII,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.502,0.7147,0.7097,0.62,0.46,0.70,,0.005649(N),0.999(P),"0.2,0.2,0.2(T,T,T)",0.0000(T),0.107,1.004302,5.56,4.35,0.460000,0.917000,1.162000,0.736000,0.741000,0.871000,10.3924
missense_variant,ZNF518B,MISSENSE,NM_053042.2:p.Ser523Asn/c.1568G>A,aGc/aAc,MODERATE,,0.991014,1,rs9291410,1(T),0.0(B),-0.345(N),-0.9939(T),,chr4,10446385,10446385,C,T,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser523Asn/c.1568G>A|1074|ZNF518B|protein_coding|CODING|NM_053042.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,0.259507(N),1.000(P),4.84(T),0.0000(T),0.007,-0.982570,5.43,1.61,-0.982000,-0.072000,0.301000,0.003000,0.000000,0.000000,1.1237
synonymous_variant,ZNF518B,SILENT,NM_053042.2:p.Asp349Asp/c.1047T>C,gaT/gaC,LOW,,0.801518,0.7946,rs10016022,,,,,,chr4,10446906,10446906,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp349Asp/c.1047T>C|1074|ZNF518B|protein_coding|CODING|NM_053042.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7843,0.7248,0.7575,0.78,0.86,0.74,,,,,,,,,,,,,,,,
synonymous_variant,CLNK,SILENT,NM_052964.2:p.Ile361Ile/c.1083A>C,atA/atC,LOW,,0.990016,1,rs2903960,,,,,,chr4,10502937,10502937,T,G,hom,synonymous_variant(LOW|SILENT|atA/atC|p.Ile361Ile/c.1083A>C|428|CLNK|protein_coding|CODING|NM_052964.2|18|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NKX3-2,SILENT,NM_001189.3:p.Arg83Arg/c.247C>A,Cgg/Agg,LOW,COSM3760379(8),0.644569,0.9673,rs9684692,,,,,,chr4,13545792,13545792,G,T,hom,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg83Arg/c.247C>A|333|NKX3-2|protein_coding|CODING|NM_001189.3|1|1),downstream_gene_variant(MODIFIER||1908|||LINC01096||NON_CODING|NR_015450.1||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.6646,0.6499,0.668,0.60,0.45,0.68,,,,,,,,,,,,,,,,
missense_variant,BOD1L1,MISSENSE,NM_148894.2:p.Val1645Ile/c.4933G>A,Gtt/Att,MODERATE,,0.0109824,0,rs17807493,0.89(T),0.003(B),-0.205(N),-0.9360(T),,chr4,13603591,13603591,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1645Ile/c.4933G>A|3051|BOD1L1|protein_coding|CODING|NM_148894.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0144,0.0348,0.02,0.01,0.03,,0.891041(N),1.000(N),3.22(T),0.0023(T),0.019,-0.105443,4.8,2.13,-0.226000,0.189000,0.161000,0.306000,0.000000,0.000000,4.5084
missense_variant,BOD1L1,MISSENSE,NM_148894.2:p.Arg797Ser/c.2391G>C,agG/agC,MODERATE,,,,,0.28(T),0.895(P),1.04(L),-1.0954(T),,chr4,13606133,13606133,C,G,het,missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg797Ser/c.2391G>C|3051|BOD1L1|protein_coding|CODING|NM_148894.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000172(D),0.772(N),2.76(T),0.0385(T),0.638,3.210497,5.69,3.97,0.563000,0.763000,0.903000,0.996000,0.997000,1.000000,7.7411
missense_variant,BOD1L1,MISSENSE,NM_148894.2:p.Leu650Ile/c.1948T>A,Tta/Ata,MODERATE,,0.724241,0.9712,rs1971278,0.62(T),0.0(B),-0.55(N),-1.0248(T),,chr4,13606576,13606576,A,T,hom,missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu650Ile/c.1948T>A|3051|BOD1L1|protein_coding|CODING|NM_148894.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.864,0.8458,0.8082,0.66,0.37,0.81,,0.419741(N),1.000(P),3.31(T),0.0000(T),0.016,-1.894004,5.44,-3.2,-2.694000,-1.912000,-0.209000,0.586000,0.000000,0.002000,11.2335
missense_variant,CPEB2,MISSENSE,NM_001177382.1:p.Pro68Ser/c.202C>T,Ccc/Tcc,MODERATE,COSM4158848(1),0.04373,0.0565,rs116150154,0.08(T),,0(N),-1.0125(T),,chr4,15004499,15004499,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro68Ser/c.202C>T|1007|CPEB2|protein_coding|CODING|NM_001177381.1|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro68Ser/c.202C>T|1034|CPEB2|protein_coding|CODING|NM_001177382.1|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro68Ser/c.202C>T|1004|CPEB2|protein_coding|CODING|NM_001177383.1|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro68Ser/c.202C>T|999|CPEB2|protein_coding|CODING|NM_001177384.1|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro68Ser/c.202C>T|1026|CPEB2|protein_coding|CODING|NM_182485.2|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro68Ser/c.202C>T|996|CPEB2|protein_coding|CODING|NM_182646.2|1|1),upstream_gene_variant(MODIFIER||830|||CPEB2-AS1||NON_CODING|NR_038857.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0399,0.0331,0.0825,,,,,,0.000(P),"0.61,0.62,0.64(T,T,T)",0.0057(T),0.156,2.910994,2.51,2.51,0.416000,1.398000,0.040000,0.940000,0.942000,0.003000,10.723
missense_variant,CPEB2,MISSENSE,NM_001177382.1:p.Asp120Asn/c.358G>A,Gac/Aac,MODERATE,,0.800519,0.9663,rs7435318,0.49(T),,0(N),-1.0046(T),,chr4,15004655,15004655,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp120Asn/c.358G>A|1007|CPEB2|protein_coding|CODING|NM_001177381.1|1|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp120Asn/c.358G>A|1034|CPEB2|protein_coding|CODING|NM_001177382.1|1|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp120Asn/c.358G>A|1004|CPEB2|protein_coding|CODING|NM_001177383.1|1|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp120Asn/c.358G>A|999|CPEB2|protein_coding|CODING|NM_001177384.1|1|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp120Asn/c.358G>A|1026|CPEB2|protein_coding|CODING|NM_182485.2|1|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp120Asn/c.358G>A|996|CPEB2|protein_coding|CODING|NM_182646.2|1|1),upstream_gene_variant(MODIFIER||986|||CPEB2-AS1||NON_CODING|NR_038857.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,K562:Znf263,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6789,0.7695,0.665,,,,,,0.000(P),"0.59,0.59,0.6(T,T,T)",0.0000(T),0.006,2.824443,3.24,2.03,-0.809000,0.275000,0.923000,0.977000,0.996000,0.997000,5.1208
synonymous_variant,CPEB2,SILENT,NM_001177382.1:p.Ser193Ser/c.579G>A,tcG/tcA,LOW,,0.043131,0.0565,rs146101385,,,,,,chr4,15004876,15004876,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser193Ser/c.579G>A|1007|CPEB2|protein_coding|CODING|NM_001177381.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser193Ser/c.579G>A|1034|CPEB2|protein_coding|CODING|NM_001177382.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser193Ser/c.579G>A|1004|CPEB2|protein_coding|CODING|NM_001177383.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser193Ser/c.579G>A|999|CPEB2|protein_coding|CODING|NM_001177384.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser193Ser/c.579G>A|1026|CPEB2|protein_coding|CODING|NM_182485.2|1|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser193Ser/c.579G>A|996|CPEB2|protein_coding|CODING|NM_182646.2|1|1),upstream_gene_variant(MODIFIER||1207|||CPEB2-AS1||NON_CODING|NR_038857.1||1)","NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:Znf263,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0399,0.0331,0.0805,,,,,,,,,,,,,,,,,,,
stop_gained,CC2D2A,NONSENSE,NM_020785.2:p.Arg88*/c.262C>T,Cga/Tga,HIGH,,0.11881,0.1647,rs1861050,1(T),,,,CC2D2A:0.33(3);CC2D2A:0.33(3);,chr4,15482360,15482360,C,T,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg88*/c.262C>T|122|CC2D2A|protein_coding|CODING|NM_020785.2|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser52Ser/c.156C>T|1620|CC2D2A|protein_coding|CODING|NM_001080522.2|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser52Ser/c.156C>T|111|CC2D2A|protein_coding|CODING|NM_001164720.1|4|1)","HMEC:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3",Conduct_disorder_case_status,RCV000114165.2,,0.0838,0.219,0.0417,0.06,0.10,0.04,,,0.000(P),,,.,1.721981,4.66,-9.31,-0.254000,-4.169000,-6.105000,0.089000,0.000000,0.000000,1.4661
missense_variant,FAM200B,MISSENSE,NM_001145191.1:p.Asp2His/c.4G>C,Gat/Cat,MODERATE,,0.0605032,0.0476,rs2302469,0.03(D),0.971(D),0.55(N),-1.0742(T),,chr4,15688604,15688604,G,C,hom,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp2His/c.4G>C|657|FAM200B|protein_coding|CODING|NM_001145191.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.045,0.1196,0.1203,,,,,,0.999(P),2.02(T),0.0005(T),0.271,1.210310,3.5,2.65,0.650000,1.052000,0.428000,0.988000,1.000000,0.968000,6.6536
synonymous_variant,FAM200B,SILENT,NM_001145191.1:p.Ser101Ser/c.303G>A,tcG/tcA,LOW,,0.00738818,0,rs145934164,,,,,,chr4,15688903,15688903,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser101Ser/c.303G>A|657|FAM200B|protein_coding|CODING|NM_001145191.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0231,0.0199,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM200B,SILENT,NM_001145191.1:p.Glu344Glu/c.1032G>A,gaG/gaA,LOW,COSM480990(2),0.29992,0.1379,rs11729955,,,,,,chr4,15689632,15689632,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu344Glu/c.1032G>A|657|FAM200B|protein_coding|CODING|NM_001145191.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2352,0.3098,0.4056,0.39,0.38,0.40,,,,,,,,,,,,,,,,
missense_variant,FAM200B,MISSENSE,NM_001145191.1:p.His545Asn/c.1633C>A,Cac/Aac,MODERATE,,0.996605,1,rs6449160,0.51(T),0.0(B),-1.1(N),-1.0154(T),,chr4,15690233,15690233,C,A,hom,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His545Asn/c.1633C>A|657|FAM200B|protein_coding|CODING|NM_001145191.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9942,0.9871,,,,,,1.000(P),1.98(T),0.0000(T),0.019,-1.619665,2.83,2.83,-0.375000,0.494000,1.549000,0.936000,0.596000,0.157000,6.1122
missense_variant,BST1,MISSENSE,NM_004334.2:p.Arg125His/c.374G>A,cGt/cAt,MODERATE,COSM4002978(1),0.0585064,0.0486,rs2302465,0.14(T),1.0(D),1.875(L),-1.0925(T),,chr4,15709192,15709192,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg125His/c.374G>A|318|BST1|protein_coding|CODING|NM_004334.2|3|1),"HeLa-S3:DNase1,HeLa-S3:Max,GM12878:H3K36me3",,,,0.0348,0.1196,0.1183,0.09,0.02,0.13,,0.000135(D),0.986(P),"2.54,2.54(T,T)",0.0031(T),0.595,3.079969,5.53,5.53,0.655000,2.591000,5.711000,0.361000,0.287000,0.995000,14.9543
synonymous_variant,FGFBP1,SILENT,NM_005130.4:p.Lys175Lys/c.525A>G,aaA/aaG,LOW,,0.914936,0.8204,rs2072313,,,,,,chr4,15937731,15937731,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys175Lys/c.525A>G|234|FGFBP1|protein_coding|CODING|NM_005130.4|3|1),"NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,HUVEC:H3K27me3,NHEK:PolII,HMEC:H3K36me3,HMEC:H3K4me2,HSMM:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.9714,0.9611,0.9672,0.94,0.90,0.96,,,,,,,,,,,,,,,,
missense_variant,FGFBP2,MISSENSE,NM_031950.3:p.Pro90Ser/c.268C>T,Cct/Tct,MODERATE,COSM447553(3),0.33726,0.501,rs758329,0.42(T),0.042(B),0(N),-0.9724(T),,chr4,15964485,15964485,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro90Ser/c.268C>T|223|FGFBP2|protein_coding|CODING|NM_031950.3|1|1),"CD4:H2BK5ac,CD4:H3K4me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.2954,0.4722,0.39,0.24,0.46,,0.386030(U),1.000(P),2.66(T),0.0000(T),0.073,-1.073128,2.98,1.08,-1.067000,-0.187000,0.703000,0.187000,0.160000,0.917000,5.9323
synonymous_variant,FGFBP2,SILENT,NM_031950.3:p.Phe84Phe/c.252C>T,ttC/ttT,LOW,COSM3760460(3),0.508786,0.4365,rs2286459,,,,,,chr4,15964501,15964501,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe84Phe/c.252C>T|223|FGFBP2|protein_coding|CODING|NM_031950.3|1|1),"CD4:H2BK5ac,CD4:H3K4me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7403,0.6499,0.5179,0.48,0.38,0.53,,,,,,,,,,,,,,,,
synonymous_variant,FGFBP2,SILENT,NM_031950.3:p.Arg60Arg/c.180T>C,cgT/cgC,LOW,COSM4158889(1),0.923522,1,rs758328,,,,,,chr4,15964573,15964573,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg60Arg/c.180T>C|223|FGFBP2|protein_coding|CODING|NM_031950.3|1|1),"CD4:H2BK5ac,CD4:H3K4me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9683,0.997,0.92,0.77,1.00,,,,,,,,,,,,,,,,
missense_variant,FGFBP2,MISSENSE,NM_031950.3:p.Ser28Asn/c.83G>A,aGc/aAc,MODERATE,COSM3760462(1),0.121006,0.0853,rs35496730,0.48(T),0.006(B),0.55(N),-0.9609(T),,chr4,15964670,15964670,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser28Asn/c.83G>A|223|FGFBP2|protein_coding|CODING|NM_031950.3|1|1),"HUVEC:CTCF,CD4:H3K4me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.1738,0.1297,0.1541,0.13,0.10,0.15,,0.583857(U),1.000(P),2.37(T),0.0001(T),0.008,-0.055220,2.98,-2.08,-0.896000,-0.762000,-0.015000,0.002000,0.000000,0.044000,3.5788
synonymous_variant,PROM1,SILENT,NM_006017.2:p.Leu76Leu/c.228G>A,ttG/ttA,LOW,COSM447559(2),0.0363419,0.004,rs76963591,,,,,,chr4,16040617,16040617,C,T,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu76Leu/c.228G>A|856|PROM1|protein_coding|CODING|NM_001145847.1|3|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu76Leu/c.228G>A|856|PROM1|protein_coding|CODING|NM_001145848.1|3|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu76Leu/c.228G>A|842|PROM1|protein_coding|CODING|NM_001145849.1|2|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu76Leu/c.228G>A|834|PROM1|protein_coding|CODING|NM_001145850.1|2|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu76Leu/c.228G>A|833|PROM1|protein_coding|CODING|NM_001145851.1|2|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu76Leu/c.228G>A|825|PROM1|protein_coding|CODING|NM_001145852.1|2|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu76Leu/c.228G>A|865|PROM1|protein_coding|CODING|NM_006017.2|2|1)",,,RCV000081348.1,,0.0348,0.0303,0.0239,0.03,0.06,0.02,,,,,,,,,,,,,,,,
missense_variant,TAPT1,MISSENSE,NM_153365.2:p.Ile116Leu/c.346A>C,Atc/Ctc,MODERATE,,0.00159744,0,rs187246858,0.84(T),0.024(B),0.345(N),-1.0748(T),,chr4,16204188,16204188,T,G,het,missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile116Leu/c.346A>C|567|TAPT1|protein_coding|CODING|NM_153365.2|3|1),"K562:H3K36me3,HepG2:H3K36me3",,,,0,0.0014,0.007,0.00,0.00,0.00,,0.000008(D),1.000(D),"1.71,1.75(T,T)",0.0223(T),0.364,1.734076,4.88,4.88,0.533000,1.953000,4.915000,0.998000,0.998000,1.000000,10.1207
synonymous_variant,CLRN2,SILENT,NM_001079827.2:p.Lys70Lys/c.210A>G,aaA/aaG,LOW,,0.982029,1,rs1551091,,,,,,chr4,17517099,17517099,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys70Lys/c.210A>G|232|CLRN2|protein_coding|CODING|NM_001079827.2|1|1),"HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9928,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LAP3,SILENT,NM_015907.2:p.Ala216Ala/c.648T>C,gcT/gcC,LOW,,0.764377,0.9018,rs3733576,,,,,,chr4,17586703,17586703,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala216Ala/c.648T>C|519|LAP3|protein_coding|CODING|NM_015907.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6299,0.7637,0.659,0.70,0.82,0.63,,,,,,,,,,,,,,,,
missense_variant,FAM184B,MISSENSE,NM_015688.1:p.Val1042Ala/c.3125T>C,gTc/gCc,MODERATE,,0.988618,1,rs6825562,1(T),0.0(B),-0.145(N),-0.9674(T),,chr4,17634213,17634213,A,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val1042Ala/c.3125T>C|1060|FAM184B|protein_coding|CODING|NM_015688.1|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.998,,,,,0.555742(N),1.000(P),1.59(T),0.0000(T),0.073,-0.553296,5.5,-0.278,-0.761000,-0.154000,-0.093000,0.746000,0.960000,0.353000,2.9219
missense_variant,FAM184B,MISSENSE,NM_015688.1:p.Arg784Trp/c.2350C>T,Cgg/Tgg,MODERATE,COSM3760487(2),0.538538,0.8522,rs2286771,0.01(D),0.339(B),0.345(N),-0.9026(T),,chr4,17643848,17643848,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg784Trp/c.2350C>T|1060|FAM184B|protein_coding|CODING|NM_015688.1|13|1),"H1ESC:DNase1,IMR90:H3K36me3",,,,0.5368,0.6599,0.6233,,,,,0.002342(N),1.000(P),1.38(T),0.0000(T),0.069,2.354233,3.29,-3.67,-0.369000,-1.014000,-0.323000,0.516000,0.000000,0.000000,6.7491
missense_variant,FAM184B,MISSENSE,NM_015688.1:p.Arg643His/c.1928G>A,cGt/cAt,MODERATE,,0.604433,0.8522,rs1860596,0.09(T),0.001(B),0.345(N),-0.9668(T),,chr4,17660082,17660082,C,T,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg643His/c.1928G>A|1060|FAM184B|protein_coding|CODING|NM_015688.1|10|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.547,0.6787,0.6252,0.58,0.51,0.61,,0.517644(N),1.000(P),1.48(T),0.0000(T),0.026,-0.162581,4.69,-5.05,-0.786000,-1.042000,-0.422000,0.022000,0.001000,0.001000,14.3201
synonymous_variant,FAM184B,SILENT,NM_015688.1:p.Leu490Leu/c.1470T>C,ctT/ctC,LOW,,0.658946,0.8948,rs3733579,,,,,,chr4,17694943,17694943,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu490Leu/c.1470T>C|1060|FAM184B|protein_coding|CODING|NM_015688.1|6|1),HepG2:H3K27me3,,,,0.591,0.7104,0.6312,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM184B,SILENT,NM_015688.1:p.Gln111Gln/c.333A>G,caA/caG,LOW,,0.638379,0.4554,rs3733583,,,,,,chr4,17711076,17711076,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln111Gln/c.333A>G|1060|FAM184B|protein_coding|CODING|NM_015688.1|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7791,0.6225,0.7913,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLIT2,SILENT,NM_004787.2:p.Val737Val/c.2211C>T,gtC/gtT,LOW,,0.351837,0.373,rs7690492,,,,,,chr4,20544184,20544184,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val733Val/c.2199C>T|1525|SLIT2|protein_coding|CODING|NM_001289135.1|20|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val729Val/c.2187C>T|1521|SLIT2|protein_coding|CODING|NM_001289136.1|20|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val737Val/c.2211C>T|1529|SLIT2|protein_coding|CODING|NM_004787.2|21|1)",,,,,0.3834,0.1758,0.2336,0.29,0.46,0.20,,,,,,,,,,,,,,,,
synonymous_variant,GPR125,SILENT,NM_145290.3:p.Pro350Pro/c.1050T>G,ccT/ccG,LOW,,0.549521,0.6151,rs6823735,,,,,,chr4,22439914,22439914,A,C,hom,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro350Pro/c.1050T>G|1321|GPR125|protein_coding|CODING|NM_145290.3|8|1),"GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5951,0.6427,0.7515,0.60,0.35,0.74,,,,,,,,,,,,,,,,
stop_lost,GBA3,MISSENSE,NM_001277225.1:p.Ter457Tyrext*?/c.1371A>T,taA/taT,HIGH,,0.891573,0.7996,rs358231,,,,,,chr4,22820504,22820504,A,T,hom,"stop_lost(HIGH|MISSENSE|taA/taT|p.Ter149Tyrext*?/c.447A>T|162|GBA3|protein_coding|CODING|NM_001128432.2|3|1),stop_lost(HIGH|MISSENSE|taA/taT|p.Ter457Tyrext*?/c.1371A>T|470|GBA3|protein_coding|CODING|NM_001277225.1|5|1),stop_lost(HIGH|MISSENSE|taA/taT|p.Ter456Tyrext*?/c.1368A>T|469|GBA3|protein_coding|CODING|NM_020973.4|5|1),non_coding_exon_variant(MODIFIER|||n.1470A>T||GBA3||CODING|NR_102355.1|5|1),non_coding_exon_variant(MODIFIER|||n.549A>T||GBA3||CODING|NR_102356.1|3|1),non_coding_exon_variant(MODIFIER|||n.1372A>T||GBA3||CODING|NR_102357.1|5|1)",,,,,0.9243,0.8919,0.8469,0.88,0.96,0.85,,,,,,,,,,,,,,,,
synonymous_variant,PPARGC1A,SILENT,NM_013261.3:p.Thr528Thr/c.1584G>A,acG/acA,LOW,COSM1429208(2),0.352236,0.4454,rs3755863,,,,,,chr4,23815522,23815522,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr528Thr/c.1584G>A|798|PPARGC1A|protein_coding|CODING|NM_013261.3|8|1),HepG2:H3K36me3,,,,0.3436,0.3343,0.4284,0.35,0.24,0.41,,,,,,,,,,,,,,,,
missense_variant,PPARGC1A,MISSENSE,NM_013261.3:p.Gly482Ser/c.1444G>A,Ggt/Agt,MODERATE,COSM3760554(1),0.265775,0.4425,rs8192678,1(T),0.004(B),-0.805(N),-0.9435(T),,chr4,23815662,23815662,C,T,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly482Ser/c.1444G>A|798|PPARGC1A|protein_coding|CODING|NM_013261.3|8|1),HepG2:H3K36me3,,,,0.2904,0.2565,0.3608,0.26,0.10,0.35,,0.000156(N),0.000(P),2.09(T),0.0000(T),0.024,-0.176377,6.02,6.02,-0.269000,1.099000,2.170000,0.992000,1.000000,1.000000,10.8867
synonymous_variant,PPARGC1A,SILENT,NM_013261.3:p.Thr394Thr/c.1182A>G,acA/acG,LOW,COSM3760555(1),0.879193,0.7798,rs2970847,,,,,,chr4,23815924,23815924,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr394Thr/c.1182A>G|798|PPARGC1A|protein_coding|CODING|NM_013261.3|8|1),HepG2:H3K36me3,,,,0.8742,0.9035,0.8231,0.85,0.96,0.80,,,,,,,,,,,,,,,,
synonymous_variant,DHX15,SILENT,NM_001358.2:p.Ala563Ala/c.1689A>G,gcA/gcG,LOW,,0.00119808,0,rs113961055,,,,,,chr4,24541828,24541828,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala563Ala/c.1689A>G|795|DHX15|protein_coding|CODING|NM_001358.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0029,0.003,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,SOD3,MISSENSE,NM_003102.2:p.Ala58Thr/c.172G>A,Gcg/Acg,MODERATE,COSM3749868(9),0.400559,0.3591,rs2536512,0.43(T),0.009(B),0.805(L),-0.9386(T),,chr4,24801315,24801315,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala58Thr/c.172G>A|240|SOD3|protein_coding|CODING|NM_003102.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5225,0.4597,0.6252,0.53,0.26,0.66,,0.413244(N),1.000(P),0.86(T),0.0000(T),0.024,0.464435,4.66,-1.33,-0.311000,0.025000,0.175000,0.007000,0.000000,0.000000,2.3621
synonymous_variant,SOD3,SILENT,NM_003102.2:p.Leu71Leu/c.211C>T,Ctg/Ttg,LOW,COSM3749869(2),0.198482,0.3512,rs8192291,,,,,,chr4,24801354,24801354,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu71Leu/c.211C>T|240|SOD3|protein_coding|CODING|NM_003102.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2025,0.1585,0.2028,0.13,0.09,0.15,,,,,,,,,,,,,,,,
synonymous_variant,PI4K2B,SILENT,NM_018323.3:p.Ala107Ala/c.321C>T,gcC/gcT,LOW,COSM4159011(1),0.789537,0.6806,rs313567,,,,,,chr4,25253995,25253995,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala107Ala/c.321C>T|481|PI4K2B|protein_coding|CODING|NM_018323.3|2|1),,,,,0.817,0.8156,0.836,0.83,0.81,0.84,,,,,,,,,,,,,,,,
missense_variant,ZCCHC4,MISSENSE,NM_024936.2:p.Leu396His/c.1187T>A,cTc/cAc,MODERATE,,0.876398,0.7391,rs315675,0.14(T),0.0(B),-0.695(N),-0.9784(T),,chr4,25363901,25363901,T,A,hom,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu396His/c.1187T>A|513|ZCCHC4|protein_coding|CODING|NM_024936.2|10|1),"HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8384,0.8818,0.8946,0.92,0.98,0.89,,0.023796(N),1.000(P),1.64(T),0.0000(T),0.354,1.579939,5.92,4.7,-0.257000,1.070000,1.913000,0.980000,0.999000,0.998000,8.4577
missense_variant,ANAPC4,MISSENSE,NM_001286756.1:p.Arg466Gln/c.1397G>A,cGa/cAa,MODERATE,,0.0740815,0,rs34811474,0.69(T),0.009(B),0.805(L),-1.0254(T),,chr4,25408838,25408838,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg466Gln/c.1397G>A|809|ANAPC4|protein_coding|CODING|NM_001286756.1|20|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg465Gln/c.1394G>A|808|ANAPC4|protein_coding|CODING|NM_013367.2|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0429,0.1239,0.2167,0.16,0.04,0.22,,0.000001(D),0.000(P),"1.47,1.47(T,T)",0.0000(T),0.24,2.110474,5.13,5.13,0.591000,2.569000,6.177000,0.929000,1.000000,1.000000,12.3291
synonymous_variant,ANAPC4,SILENT,NM_001286756.1:p.Phe708Phe/c.2124T>C,ttT/ttC,LOW,COSM149658(2),0.502396,0.3075,rs9174,,,,,,chr4,25419283,25419283,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe708Phe/c.2124T>C|809|ANAPC4|protein_coding|CODING|NM_001286756.1|28|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe707Phe/c.2121T>C|808|ANAPC4|protein_coding|CODING|NM_013367.2|28|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4182,0.5476,0.5974,0.60,0.62,0.59,,,,,,,,,,,,,,,,
missense_variant,SLC34A2,MISSENSE,NM_006424.2:p.Asp634Gly/c.1901A>G,gAc/gGc,MODERATE,,0.910743,0.997,rs6448389,1(T),"0.0,0.0(B,B)",-2.125(N),-0.9698(T),,chr4,25678199,25678199,A,G,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp633Gly/c.1898A>G|689|SLC34A2|protein_coding|CODING|NM_001177998.1|13|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp633Gly/c.1898A>G|689|SLC34A2|protein_coding|CODING|NM_001177999.1|13|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp634Gly/c.1901A>G|690|SLC34A2|protein_coding|CODING|NM_006424.2|13|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.8149,0.8775,0.8469,0.88,0.96,0.83,,0.000485(N),1.000(P),"2.17,2.17,2.17(T,T,T)",0.0000(T),0.15,-1.027363,4.99,4.99,-0.298000,1.114000,2.004000,0.163000,0.978000,0.994000,9.631
synonymous_variant,RBPJ,SILENT,NM_005349.3:p.Ser78Ser/c.234T>C,agT/agC,LOW,,0.511781,0.5308,rs2270226,,,,,,chr4,26417136,26417136,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser78Ser/c.234T>C|500|RBPJ|protein_coding|CODING|NM_005349.3|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser65Ser/c.195T>C|487|RBPJ|protein_coding|CODING|NM_015874.4|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser63Ser/c.189T>C|485|RBPJ|protein_coding|CODING|NM_203283.2|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser64Ser/c.192T>C|486|RBPJ|protein_coding|CODING|NM_203284.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.683,0.5606,0.50,0.37,0.56,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D19,SILENT,NM_018317.3:p.Ser22Ser/c.66C>T,tcC/tcT,LOW,COSM3760560(1),0.313099,0.3601,rs4692549,,,,,,chr4,26585881,26585881,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser22Ser/c.66C>T|461|TBC1D19|protein_coding|CODING|NM_001292054.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser22Ser/c.66C>T|526|TBC1D19|protein_coding|CODING|NM_018317.3|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.4018,0.2795,0.3946,0.34,0.22,0.41,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D19,SILENT,NM_018317.3:p.Glu227Glu/c.681A>G,gaA/gaG,LOW,,0.98103,1,rs7691219,,,,,,chr4,26673787,26673787,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu162Glu/c.486A>G|461|TBC1D19|protein_coding|CODING|NM_001292054.1|7|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu227Glu/c.681A>G|526|TBC1D19|protein_coding|CODING|NM_018317.3|10|1)",,,,,1,0.9957,0.999,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,STIM2,SILENT,NM_001169118.1:p.Gln266Gln/c.798G>A,caG/caA,LOW,,0.977636,1,rs10028164,,,,,,chr4,27004011,27004011,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln266Gln/c.798G>A|599|STIM2|protein_coding|CODING|NM_001169117.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln266Gln/c.798G>A|754|STIM2|protein_coding|CODING|NM_001169118.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln266Gln/c.798G>A|746|STIM2|protein_coding|CODING|NM_020860.3|6|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.998,0.9683,0.993,0.97,0.94,0.99,,,,,,,,,,,,,,,,
synonymous_variant,ARAP2,SILENT,NM_015230.3:p.Ala1613Ala/c.4839C>T,gcC/gcT,LOW,COSM3760594(1),0.155351,0.0913,rs7657166,,,,,,chr4,36069805,36069805,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1613Ala/c.4839C>T|1704|ARAP2|protein_coding|CODING|NM_015230.3|33|1),"CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2393,0.2061,0.2803,0.24,0.07,0.32,,,,,,,,,,,,,,,,
missense_variant,ARAP2,MISSENSE,NM_015230.3:p.Arg1523Gln/c.4568G>A,cGa/cAa,MODERATE,,0.995208,1,rs386595763,0.75(T),0.0(B),-1.95(N),-0.9264(T),,chr4,36081878,36081878,C,T,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1523Gln/c.4568G>A|1704|ARAP2|protein_coding|CODING|NM_015230.3|31|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.9959,0.9928,0.9861,0.99,1.00,0.99,,0.009341(N),1.000(P),-0.88(T),0.0000(T),0.036,-1.387327,5.71,4.53,-2.276000,0.106000,1.986000,0.043000,0.998000,0.998000,11.5035
missense_variant,DTHD1,MISSENSE,NM_001170700.2:p.Val179Asp/c.536T>A,gTt/gAt,MODERATE,,0.963059,0.999,rs1995319,0.83(T),0.0(B),-0.895(N),-0.9977(T),,chr4,36292018,36292018,T,A,hom,"missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val14Asp/c.41T>A|616|DTHD1|protein_coding|CODING|NM_001136536.4|2|1),missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val179Asp/c.536T>A|781|DTHD1|protein_coding|CODING|NM_001170700.2|2|1)",,,,,0.9663,0.879,0.9344,0.94,0.98,0.92,,0.070726(N),1.000(P),"2.0,2.41,2.42(T,T,T)",0.0000(T),0.216,-1.647614,5.04,-2.64,-2.081000,-1.239000,-0.135000,0.010000,0.000000,0.002000,2.0632
missense_variant,DTHD1,MISSENSE,NM_001170700.2:p.Arg552Cys/c.1654C>T,Cgt/Tgt,MODERATE,COSM3760596(2),0.313698,0.369,rs12507599,0.09(T),0.001(B),1.1(L),-1.0700(T),,chr4,36310049,36310049,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg387Cys/c.1159C>T|616|DTHD1|protein_coding|CODING|NM_001136536.4|6|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg552Cys/c.1654C>T|781|DTHD1|protein_coding|CODING|NM_001170700.2|6|1)",,,,,0.4131,0.3141,0.2416,0.25,0.25,0.26,,0.284984(N),1.000(P),"-1.24,-1.24,-1.24(T,T,T)",0.0000(T),0.181,-0.319388,4.8,2.05,-0.137000,0.306000,0.404000,0.004000,0.001000,0.000000,3.213
missense_variant,DTHD1,MISSENSE,NM_001170700.2:p.Arg662His/c.1985G>A,cGt/cAt,MODERATE,COSM1137185(4),0.196486,0.127,rs9654132,0.11(T),0.061(B),0.805(L),-1.0906(T),,chr4,36340753,36340753,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg497His/c.1490G>A|616|DTHD1|protein_coding|CODING|NM_001136536.4|8|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg662His/c.1985G>A|781|DTHD1|protein_coding|CODING|NM_001170700.2|8|1)",,,,,0.2249,0.1873,0.2624,0.22,0.20,0.23,,0.006013(N),0.945(P),"-1.21,-1.21,-1.21(T,T,T)",0.0000(T),0.119,1.937584,5.04,2.18,-0.215000,0.732000,0.817000,0.975000,1.000000,0.984000,9.6835
synonymous_variant,DTHD1,SILENT,NM_001170700.2:p.Glu759Glu/c.2277G>A,gaG/gaA,LOW,,0.108027,0.121,rs2270880,,,,,,chr4,36345377,36345377,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu594Glu/c.1782G>A|616|DTHD1|protein_coding|CODING|NM_001136536.4|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu759Glu/c.2277G>A|781|DTHD1|protein_coding|CODING|NM_001170700.2|9|1)",,,,,0.2004,0.062,0.165,0.13,0.04,0.17,,,,,,,,,,,,,,,,
synonymous_variant,NWD2,SILENT,NM_001144990.1:p.Leu759Leu/c.2275T>C,Tta/Cta,LOW,,0.188299,0.1577,rs11724784,,,,,,chr4,37445885,37445885,T,C,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu759Leu/c.2275T>C|1742|NWD2|protein_coding|CODING|NM_001144990.1|7|1),GM06990:H3K27me3,,,,0.2648,0.219,0.2207,0.18,0.12,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PGM2,SILENT,NM_018290.3:p.Ser104Ser/c.312T>C,agT/agC,LOW,,0.34385,0.2748,rs3752683,,,,,,chr4,37836302,37836302,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser104Ser/c.312T>C|612|PGM2|protein_coding|CODING|NM_018290.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1442,0.2781,0.2167,0.35,0.62,0.22,,,,,,,,,,,,,,,,
synonymous_variant,PGM2,SILENT,NM_018290.3:p.Leu572Leu/c.1716G>C,ctG/ctC,LOW,COSM4159051(1),0.172125,0.1091,rs11554509,,,,,,chr4,37857342,37857342,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu572Leu/c.1716G>C|612|PGM2|protein_coding|CODING|NM_018290.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.1167,0.1471,0.19,0.29,0.14,,,,,,,,,,,,,,,,
missense_variant,TBC1D1,MISSENSE,NM_015173.3:p.Ser14Pro/c.40T>C,Tct/Cct,MODERATE,,0.704073,0.6577,rs2279027,1(T),"0.0,0.0(B,B)",-0.895(N),-0.9843(T),,chr4,37903756,37903756,T,C,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser14Pro/c.40T>C|1159|TBC1D1|protein_coding|CODING|NM_001253912.1|2|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser14Pro/c.40T>C|1168|TBC1D1|protein_coding|CODING|NM_015173.3|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.6902,0.5937,0.6103,0.68,0.84,0.59,,0.000149(N),1.000(P),"2.56,2.56,2.56(T,T,T)",0.0000(T),0.036,-1.713289,5.79,4.9,-0.368000,1.474000,0.222000,0.206000,0.090000,0.008000,10.3651
synonymous_variant,TBC1D1,SILENT,NM_015173.3:p.Ala122Ala/c.366T>C,gcT/gcC,LOW,,0.404353,0.373,rs2279026,,,,,,chr4,37904082,37904082,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala122Ala/c.366T>C|1159|TBC1D1|protein_coding|CODING|NM_001253912.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala122Ala/c.366T>C|1168|TBC1D1|protein_coding|CODING|NM_015173.3|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.3701,0.3444,0.2038,0.33,0.56,0.22,,,,,,,,,,,,,,,,
synonymous_variant,PTTG2,SILENT,NM_006607.2:p.Leu26Leu/c.78G>A,ctG/ctA,LOW,COSM3760600(1),0.234824,0.3125,rs2290740,,,,,,chr4,37962133,37962133,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu26Leu/c.78G>A|191|PTTG2|protein_coding|CODING|NM_006607.2|1|1),intron_variant(MODIFIER|||c.418-53997G>A|1159|TBC1D1|protein_coding|CODING|NM_001253912.1|2|1),intron_variant(MODIFIER|||c.418-53997G>A|1168|TBC1D1|protein_coding|CODING|NM_015173.3|2|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2566,0.1066,0.1322,0.19,0.29,0.14,,,,,,,,,,,,,,,,
missense_variant,PTTG2,MISSENSE,NM_006607.2:p.Arg44Pro/c.131G>C,cGa/cCa,MODERATE,,0.729832,0.9583,rs6811863,1(T),0.0(B),-2.545(N),-0.9339(T),,chr4,37962186,37962186,G,C,hom,"missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg44Pro/c.131G>C|191|PTTG2|protein_coding|CODING|NM_006607.2|1|1),intron_variant(MODIFIER|||c.418-53944G>C|1159|TBC1D1|protein_coding|CODING|NM_001253912.1|2|1),intron_variant(MODIFIER|||c.418-53944G>C|1168|TBC1D1|protein_coding|CODING|NM_015173.3|2|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.7188,0.7017,0.5746,0.61,0.70,0.56,,,1.000(P),1.17(T),0.0000(T),0.046,-0.617482,2.02,-4.04,-1.544000,-1.494000,-0.042000,0.001000,0.000000,0.013000,1.3883
missense_variant,TBC1D1,MISSENSE,NM_015173.3:p.Val228Gly/c.683T>G,gTg/gGg,MODERATE,COSM447822(4),0.578474,0.7093,rs10501,0.4(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0553(T),,chr4,38016395,38016395,T,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val228Gly/c.683T>G|1159|TBC1D1|protein_coding|CODING|NM_001253912.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val228Gly/c.683T>G|1168|TBC1D1|protein_coding|CODING|NM_015173.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5767,0.487,0.4284,0.48,0.59,0.42,,0.261076(N),1.000(P),"3.65,4.04,2.29(T,T,T)",0.0000(T),0.089,-1.110455,5.22,0.314,-0.323000,-0.122000,1.416000,0.023000,0.000000,0.138000,4.0723
synonymous_variant,TLR10,SILENT,NM_001017388.2:p.Asp809Asp/c.2427T>C,gaT/gaC,LOW,COSM1429551(2),0.298722,0.4325,rs10776482,,,,,,chr4,38774785,38774785,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp795Asp/c.2385T>C|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp809Asp/c.2427T>C|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp809Asp/c.2427T>C|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp809Asp/c.2427T>C|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp809Asp/c.2427T>C|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3139,0.3184,0.2495,0.21,0.22,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TLR10,SILENT,NM_001017388.2:p.His724His/c.2172T>C,caT/caC,LOW,,0.298722,0.4325,rs10776483,,,,,,chr4,38775040,38775040,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His710His/c.2130T>C|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His724His/c.2172T>C|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His724His/c.2172T>C|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His724His/c.2172T>C|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His724His/c.2172T>C|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3139,0.3184,0.2495,0.21,0.22,0.20,,,,,,,,,,,,,,,,
missense_variant,TLR10,MISSENSE,NM_001017388.2:p.Ile369Leu/c.1105A>C,Atc/Ctc,MODERATE,COSM1429555(2),0.499601,0.5546,rs11096955,0.33(T),0.002(B),1.39(L),-0.9473(T),,chr4,38776107,38776107,T,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile355Leu/c.1063A>C|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile369Leu/c.1105A>C|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile369Leu/c.1105A>C|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile369Leu/c.1105A>C|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile369Leu/c.1105A>C|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5419,0.4179,0.3976,0.40,0.51,0.34,,0.730685(N),1.000(P),"1.91,1.91,1.91,1.91(T,T,T,T)",0.0000(T),0.058,0.113581,5.17,1.24,0.477000,0.778000,-0.986000,0.683000,0.198000,0.000000,1.3343
synonymous_variant,TLR10,SILENT,NM_001017388.2:p.Pro344Pro/c.1032G>T,ccG/ccT,LOW,,0.298522,0.4325,rs11096956,,,,,,chr4,38776180,38776180,C,A,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro330Pro/c.990G>T|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro344Pro/c.1032G>T|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro344Pro/c.1032G>T|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro344Pro/c.1032G>T|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro344Pro/c.1032G>T|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3139,0.3184,0.2495,0.21,0.22,0.20,,,,,,,,,,,,,,,,
missense_variant,TLR10,MISSENSE,NM_001017388.2:p.Met326Thr/c.977T>C,aTg/aCg,MODERATE,,0.0910543,0.1081,rs11466653,0.01(D),0.688(P),2.56(M),-0.9474(T),,chr4,38776235,38776235,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met312Thr/c.935T>C|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met326Thr/c.977T>C|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met326Thr/c.977T>C|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met326Thr/c.977T>C|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met326Thr/c.977T>C|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1575,0.1585,0.0427,0.03,0.03,0.03,,0.000193(D),0.017(P),"-1.65,-1.65,-1.65,-1.65(D,D,D,D)",0.0075(T),0.309,2.738081,5.13,5.13,0.477000,1.936000,5.661000,0.934000,1.000000,1.000000,14.9434
missense_variant,TLR10,MISSENSE,NM_001017388.2:p.Val298Ile/c.892G>A,Gta/Ata,MODERATE,COSM4003073(1),0.0960463,0.1081,rs11466651,0.18(T),0.048(B),1.79(L),-0.9622(T),,chr4,38776320,38776320,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val284Ile/c.850G>A|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val298Ile/c.892G>A|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val298Ile/c.892G>A|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val298Ile/c.892G>A|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val298Ile/c.892G>A|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1575,0.1614,0.0427,0.03,0.04,0.03,,0.657460(N),1.000(P),"-1.71,-1.71,-1.71,-1.71(D,D,D,D)",0.0031(T),0.037,1.937552,5.13,3.18,0.585000,1.153000,-0.812000,0.997000,0.682000,0.000000,7.8804
missense_variant,TLR10,MISSENSE,NM_001017388.2:p.Asn241His/c.721A>C,Aat/Cat,MODERATE,COSM3760606(1),0.5,0.5546,rs11096957,0.02(D),0.669(P),2.28(M),-0.9153(T),,chr4,38776491,38776491,T,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn227His/c.679A>C|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn241His/c.721A>C|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn241His/c.721A>C|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn241His/c.721A>C|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn241His/c.721A>C|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5409,0.4179,0.3976,0.40,0.51,0.34,,0.004086(N),1.000(P),"-1.73,-1.73,-1.73,-1.73(D,D,D,D)",0.0000(T),0.055,0.993939,4.91,4.91,0.533000,1.841000,0.982000,0.145000,0.431000,0.010000,14.5438
missense_variant,TLR10,MISSENSE,NM_001017388.2:p.Ala163Ser/c.487G>T,Gct/Tct,MODERATE,,0.0960463,0.1081,rs11466649,0.09(T),0.125(B),2.07(M),-1.0830(T),,chr4,38776725,38776725,C,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala149Ser/c.445G>T|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala163Ser/c.487G>T|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala163Ser/c.487G>T|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala163Ser/c.487G>T|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala163Ser/c.487G>T|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.1575,0.1614,0.0427,0.03,0.04,0.03,,0.003511(N),0.139(P),"1.91,1.91,1.91,1.91(T,T,T,T)",0.0003(T),0.047,1.892661,5.23,4.36,0.655000,1.132000,0.132000,0.931000,1.000000,0.846000,9.8634
synonymous_variant,TLR10,SILENT,NM_001017388.2:p.Thr51Thr/c.153G>A,acG/acA,LOW,COSM4159055(1),0.139177,0.1081,rs10856837,,,,,,chr4,38777059,38777059,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr37Thr/c.111G>A|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr51Thr/c.153G>A|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr51Thr/c.153G>A|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr51Thr/c.153G>A|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr51Thr/c.153G>A|811|TLR10|protein_coding|CODING|NM_030956.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.1575,0.1787,0.0437,0.09,0.19,0.03,,,,,,,,,,,,,,,,
synonymous_variant,TLR10,SILENT,NM_001017388.2:p.Ile13Ile/c.39T>A,atT/atA,LOW,COSM3760607(3),0.330871,0.2302,rs10856838,,,,,,chr4,38777173,38777173,A,T,het,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile13Ile/c.39T>A|811|TLR10|protein_coding|CODING|NM_001017388.2|2|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile13Ile/c.39T>A|811|TLR10|protein_coding|CODING|NM_001195106.1|3|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile13Ile/c.39T>A|811|TLR10|protein_coding|CODING|NM_001195107.1|3|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile13Ile/c.39T>A|811|TLR10|protein_coding|CODING|NM_030956.3|4|1),5_prime_UTR_variant(MODIFIER||4|c.-4T>A|797|TLR10|protein_coding|CODING|NM_001195108.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.3845,0.2723,0.1909,0.27,0.46,0.17,,,,,,,,,,,,,,,,
missense_variant,TLR1,MISSENSE,NM_003263.3:p.His720Pro/c.2159A>C,cAt/cCt,MODERATE,,0.00359425,0,rs113706342,0.01(D),0.573(P),2.3(M),-1.0005(T),,chr4,38798294,38798294,T,G,het,missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His720Pro/c.2159A>C|786|TLR1|protein_coding|CODING|NM_003263.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0058,0.0089,0.01,0.00,0.01,,0.061014(N),1.000(N),"3.15,3.15(T,T)",0.0343(T),0.552,2.478806,5.2,4.0,0.460000,0.926000,1.050000,0.950000,0.879000,0.001000,4.1809
synonymous_variant,TLR1,SILENT,NM_003263.3:p.Gly676Gly/c.2028C>T,ggC/ggT,LOW,,0.00419329,0,rs41311400,,,,,,chr4,38798425,38798425,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly676Gly/c.2028C>T|786|TLR1|protein_coding|CODING|NM_003263.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0058,0.0089,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,TLR1,MISSENSE,NM_003263.3:p.Ser602Ile/c.1805G>T,aGc/aTc,MODERATE,COSM3760608(2),0.800519,0.994,rs5743618,1(T),0.0(B),-2.215(N),-0.9814(T),,chr4,38798648,38798648,C,A,het,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser602Ile/c.1805G>T|786|TLR1|protein_coding|CODING|NM_003263.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K36me3",,RCV000008865.3,,0.9264,0.7161,0.327,0.48,0.85,0.29,,0.223979(N),1.000(P),"4.65,4.65(T,T)",0.0000(T),0.052,-1.580406,5.43,2.76,-0.256000,0.431000,0.626000,0.653000,0.429000,0.000000,8.4818
missense_variant,TLR6,MISSENSE,NM_006068.4:p.Ser249Pro/c.745T>C,Tca/Cca,MODERATE,COSM3760613(1),0.884784,1,rs5743810,0.38(T),0.0(B),-1.06(N),-1.0011(T),,chr4,38830350,38830350,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser249Pro/c.745T>C|796|TLR6|protein_coding|CODING|NM_006068.4|2|1),GM06990:H3K36me3,,,,0.9826,0.817,0.5915,0.69,0.92,0.58,,0.197499(N),1.000(P),"2.49,2.49(T,T)",0.0000(T),0.05,-1.195197,5.56,3.52,-1.164000,0.748000,0.544000,0.032000,0.124000,0.069000,4.9213
synonymous_variant,TMEM156,SILENT,NM_024943.1:p.Leu201Leu/c.603A>G,ctA/ctG,LOW,,0.926518,0.9484,rs10212770,,,,,,chr4,38995374,38995374,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu201Leu/c.603A>G|296|TMEM156|protein_coding|CODING|NM_024943.1|3|1),"GM12878:H3K36me3,HepG2:CTCF,GM06990:H3K36me3",,,,0.908,0.9107,0.8449,0.89,0.97,0.84,,,,,,,,,,,,,,,,
missense_variant,KLHL5,MISSENSE,NM_015990.4:p.Ile10Leu/c.28A>C,Att/Ctt,MODERATE,,0.736422,0.8274,rs2711941,1(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9398(T),,chr4,39064162,39064162,A,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile10Leu/c.28A>C|755|KLHL5|protein_coding|CODING|NM_015990.4|1|1),missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile10Leu/c.28A>C|694|KLHL5|protein_coding|CODING|NM_199039.3|1|1),intron_variant(MODIFIER|||c.-94-17A>C|709|KLHL5|protein_coding|CODING|NM_001007075.2|1|1),intron_variant(MODIFIER|||c.-40-13423A>C|568|KLHL5|protein_coding|CODING|NM_001171654.1|1|1)","H1ESC:H3K4me2,IMR90:H3K36me3",,,,0.7658,0.7882,0.7465,0.71,0.65,0.75,,0.179567(N),0.000(P),"-0.41,-0.32,-0.35,-0.53(T,T,T,T)",0.0000(T),0.039,-0.468826,4.95,3.13,-0.127000,0.581000,0.818000,0.981000,1.000000,1.000000,4.5544
synonymous_variant,KLHL5,SILENT,NM_015990.4:p.Thr724Thr/c.2172T>C,acT/acC,LOW,COSM3760616(1),0.492612,0.495,rs3733276,,,,-0.9293(T),,chr4,39116911,39116911,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr678Thr/c.2034T>C|709|KLHL5|protein_coding|CODING|NM_001007075.2|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr537Thr/c.1611T>C|568|KLHL5|protein_coding|CODING|NM_001171654.1|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr724Thr/c.2172T>C|755|KLHL5|protein_coding|CODING|NM_015990.4|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr663Thr/c.1989T>C|694|KLHL5|protein_coding|CODING|NM_199039.3|9|1),intron_variant(MODIFIER|||n.26+11366T>C||MIR1273H||NON_CODING|NR_106996.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.5965,0.5765,0.52,0.39,0.59,,,0.000(P),,0.0000(T),.,0.708499,6.06,-3.44,-1.068000,-0.927000,-0.788000,0.859000,0.901000,0.012000,0.6333
synonymous_variant,WDR19,SILENT,NM_025132.3:p.Ser284Ser/c.852A>G,tcA/tcG,LOW,COSM4003077(1),0.123003,0.1508,rs17584431,,,,,,chr4,39207318,39207318,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser284Ser/c.852A>G|1342|WDR19|protein_coding|CODING|NM_025132.3|9|1),intron_variant(MODIFIER|||n.27-47738A>G||MIR1273H||NON_CODING|NR_106996.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2025,0.1484,0.1551,0.11,0.02,0.15,,,,,,,,,,,,,,,,
synonymous_variant,RFC1,SILENT,NM_001204747.1:p.Pro848Pro/c.2544A>G,ccA/ccG,LOW,COSM3760619(1),0.465256,0.63,rs2066786,,,,,,chr4,39302029,39302029,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro848Pro/c.2544A>G|1148|RFC1|protein_coding|CODING|NM_001204747.1|20|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro847Pro/c.2541A>G|1147|RFC1|protein_coding|CODING|NM_002913.4|20|1),intron_variant(MODIFIER|||n.44+46487T>C||MIR1273H||NON_CODING|NR_106996.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6646,0.6066,0.5477,0.42,0.15,0.57,,,,,,,,,,,,,,,,
synonymous_variant,KLB,SILENT,NM_175737.3:p.Pro732Pro/c.2196C>G,ccC/ccG,LOW,COSM3760621(5),0.765176,0.7212,rs7685429,,,,,,chr4,39448542,39448542,C,G,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro732Pro/c.2196C>G|1044|KLB|protein_coding|CODING|NM_175737.3|4|1),intron_variant(MODIFIER|||n.45-136242C>G||MIR1273H||NON_CODING|NR_106996.1|3|1)","NHEK:CTCF,H1ESC:TAF1,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:CTCF,HUVEC:DNase1,GM12878:PolII,HepG2:H3K36me3,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:CTCF",,,,0.8252,0.8516,0.7505,0.75,0.72,0.77,,,,,,,,,,,,,,,,
missense_variant,KLB,MISSENSE,NM_175737.3:p.Gln1020Lys/c.3058C>A,Cag/Aag,MODERATE,,0.328275,0.3819,rs4975017,1(T),"0.01,0.01(B,B)",-0.205(N),-0.9164(T),,chr4,39450229,39450229,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln1020Lys/c.3058C>A|1044|KLB|protein_coding|CODING|NM_175737.3|5|1),intron_variant(MODIFIER|||n.45-134555C>A||MIR1273H||NON_CODING|NR_106996.1|3|1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5133,0.402,0.3201,0.27,0.16,0.32,,0.761361(N),1.000(P),1.81(T),0.0000(T),0.055,-2.212627,5.78,2.81,0.313000,0.786000,1.848000,0.104000,0.015000,1.000000,5.2329
synonymous_variant,RPL9,SILENT,NM_000661.4:p.Tyr122Tyr/c.366T>C,taT/taC,LOW,,0.692891,0.7212,rs2125313,0.28(T),,,-1.0139(T),,chr4,39458051,39458051,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|192|RPL9|protein_coding|CODING|NM_000661.4|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr122Tyr/c.366T>C|192|RPL9|protein_coding|CODING|NM_001024921.2|4|1),intron_variant(MODIFIER|||n.45-126733A>G||MIR1273H||NON_CODING|NR_106996.1|3|1)","H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.82,0.8069,0.6799,0.65,0.55,0.70,,0.000001(U),0.000(P),,0.0000(T),.,-0.539856,5.66,1.53,-0.974000,0.088000,1.174000,0.185000,0.996000,1.000000,10.5401
missense_variant,N4BP2,MISSENSE,NM_018177.4:p.Glu118Lys/c.352G>A,Gaa/Aaa,MODERATE,,0.043131,0.0407,rs61748746,0.25(T),"0.466,0.276(P,B)",0.895(L),-0.8736(T),,chr4,40103817,40103817,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu118Lys/c.352G>A|1770|N4BP2|protein_coding|CODING|NM_018177.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0327,0.0231,0.0815,0.07,0.03,0.08,,0.024097(N),0.876(N),"-1.38,-1.38(T,T)",0.0377(T),0.202,2.708557,6.08,6.08,0.591000,2.894000,1.989000,0.330000,0.994000,0.998000,15.2685
missense_variant,N4BP2,MISSENSE,NM_018177.4:p.Asp611Asn/c.1831G>A,Gat/Aat,MODERATE,COSM447847(1),0.824681,0.9653,rs794001,1(T),"0.0,0.0(B,B)",-1.7(N),-1.0177(T),,chr4,40121562,40121562,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp611Asn/c.1831G>A|1770|N4BP2|protein_coding|CODING|NM_018177.4|9|1),"K562:H3K36me3,HepG2:H3K36me3",,,,0.9294,0.8458,0.7624,0.75,0.69,0.77,,0.265102(N),1.000(P),2.32(T),0.0000(T),0.047,-1.310934,5.93,0.469,-0.381000,0.128000,0.565000,0.286000,0.769000,0.379000,2.2334
missense_variant,N4BP2,MISSENSE,NM_018177.4:p.Ser1353Arg/c.4059T>G,agT/agG,MODERATE,,0.043131,0.0407,rs61748749,0.43(T),"0.037,0.016(B,B)",1.04(L),-0.9878(T),,chr4,40123790,40123790,T,G,het,missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser1353Arg/c.4059T>G|1770|N4BP2|protein_coding|CODING|NM_018177.4|9|1),"HUVEC:H3K4me2,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.0327,0.0231,0.0815,0.07,0.03,0.08,,0.064924(N),0.877(D),2.22(T),0.0156(T),0.262,1.001969,5.96,5.96,0.477000,2.278000,2.617000,0.188000,1.000000,0.994000,14.3651
synonymous_variant,CHRNA9,SILENT,NM_017581.3:p.Ile13Ile/c.39C>T,atC/atT,LOW,COSM1178492(2),0.217053,0.0496,rs56241474,,,,,,chr4,40337523,40337523,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile13Ile/c.39C>T|479|CHRNA9|protein_coding|CODING|NM_017581.3|1|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,GM12878:H3K36me3,HeLa-S3:H3K4me2,NH-A:DNase1,HeLa-S3:PolII,K562:H3K27me3,HeLa-S3:H3K27ac,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.1994,0.2464,0.2734,0.30,0.29,0.30,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA9,SILENT,NM_017581.3:p.Ser43Ser/c.129T>C,tcT/tcC,LOW,COSM4003078(2),0.644369,0.4008,rs10022491,,,,,,chr4,40337908,40337908,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser43Ser/c.129T>C|479|CHRNA9|protein_coding|CODING|NM_017581.3|2|1),"HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,HeLa-S3:H3K9ac,GM12878:H3K36me3,HeLa-S3:PolII,K562:H3K27me3,HeLa-S3:H3K27ac,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.6196,0.6427,0.5338,0.65,0.87,0.55,,,,,,,,,,,,,,,,
missense_variant,CHRNA9,MISSENSE,NM_017581.3:p.Asn442Ser/c.1325A>G,aAt/aGt,MODERATE,,0.745008,0.8492,rs10009228,0.56(T),0.003(B),0.08(N),-0.9551(T),,chr4,40356422,40356422,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn442Ser/c.1325A>G|479|CHRNA9|protein_coding|CODING|NM_017581.3|5|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,,,0.7873,0.6816,0.7753,0.76,0.67,0.81,,0.675100(N),1.000(P),-1.63(D),0.0000(T),0.027,0.033188,5.47,3.09,0.454000,0.932000,1.302000,0.533000,0.757000,0.001000,7.0156
synonymous_variant,RBM47,SILENT,NM_001098634.1:p.Gly404Gly/c.1212T>C,ggT/ggC,LOW,COSM4159064(1),0.805112,0.7669,rs2307046,,,,,,chr4,40438576,40438576,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly404Gly/c.1212T>C|593|RBM47|protein_coding|CODING|NM_001098634.1|5|1),intron_variant(MODIFIER|||c.1123+1212T>C|524|RBM47|protein_coding|CODING|NM_019027.3|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8753,0.8516,0.8698,0.84,0.74,0.88,,,,,,,,,,,,,,,,
synonymous_variant,RBM47,SILENT,NM_001098634.1:p.Glu232Glu/c.696A>G,gaA/gaG,LOW,COSM447856(1),0.702476,0.7331,rs2291580,,,,,,chr4,40440215,40440215,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu232Glu/c.696A>G|593|RBM47|protein_coding|CODING|NM_001098634.1|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu232Glu/c.696A>G|524|RBM47|protein_coding|CODING|NM_019027.3|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8415,0.781,0.8141,0.73,0.53,0.82,,,,,,,,,,,,,,,,
synonymous_variant,RBM47,SILENT,NM_001098634.1:p.Ser19Ser/c.57C>G,tcC/tcG,LOW,COSM3760629(1),0.801917,0.7679,rs1052153,,,,,,chr4,40440854,40440854,G,C,hom,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser19Ser/c.57C>G|593|RBM47|protein_coding|CODING|NM_001098634.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser19Ser/c.57C>G|524|RBM47|protein_coding|CODING|NM_019027.3|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8763,0.8588,0.8837,0.84,0.73,0.89,,,,,,,,,,,,,,,,
synonymous_variant,NSUN7,SILENT,NM_024677.4:p.Gly302Gly/c.906C>T,ggC/ggT,LOW,COSM149666(1),0.729034,0.5208,rs2465570,,,,,,chr4,40778146,40778146,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly302Gly/c.906C>T|718|NSUN7|protein_coding|CODING|NM_024677.4|7|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HSMM:H3K27me3",,,,0.5961,0.8804,0.7714,0.82,0.87,0.80,,,,,,,,,,,,,,,,
missense_variant,NSUN7,MISSENSE,NM_024677.4:p.Ser308Ala/c.922T>G,Tcc/Gcc,MODERATE,COSM149667(1),0.729233,0.5208,rs2437323,1(T),"0.0,0.0(B,B)",-2.085(N),-0.9702(T),,chr4,40778162,40778162,T,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser308Ala/c.922T>G|718|NSUN7|protein_coding|CODING|NM_024677.4|7|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HSMM:H3K27me3",,,,0.5971,0.8804,0.7714,0.82,0.87,0.80,,0.000012(N),1.000(P),"3.1,3.1(T,T)",0.0000(T),0.127,0.251716,5.61,5.61,-0.224000,1.388000,5.381000,0.649000,1.000000,1.000000,15.7909
missense_variant,NSUN7,MISSENSE,NM_024677.4:p.Thr622Ala/c.1864A>G,Act/Gct,MODERATE,COSM4159067(1),0.168131,0.0208,rs4861066,0.29(T),0.002(B),1.5(L),-0.9269(T),,chr4,40810663,40810663,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr622Ala/c.1864A>G|718|NSUN7|protein_coding|CODING|NM_024677.4|12|1),downstream_gene_variant(MODIFIER||1381||758|APBB2|protein_coding|CODING|NM_001166050.1||1),downstream_gene_variant(MODIFIER||1381||210|APBB2|protein_coding|CODING|NM_001166051.1||1),downstream_gene_variant(MODIFIER||1381||210|APBB2|protein_coding|CODING|NM_001166052.1||1),downstream_gene_variant(MODIFIER||1381||210|APBB2|protein_coding|CODING|NM_001166053.1||1),downstream_gene_variant(MODIFIER||1381||210|APBB2|protein_coding|CODING|NM_001166054.1||1),downstream_gene_variant(MODIFIER||1381||759|APBB2|protein_coding|CODING|NM_004307.1||1),downstream_gene_variant(MODIFIER||1381||736|APBB2|protein_coding|CODING|NM_173075.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3",,,,0.1268,0.2305,0.3022,0.30,0.23,0.34,,0.697595(N),1.000(P),3.61(T),0.0000(T),0.031,1.379398,4.6,-3.78,-0.353000,-0.924000,-0.536000,0.013000,0.001000,0.000000,6.4663
missense_variant,NSUN7,MISSENSE,NM_024677.4:p.Lys650Glu/c.1948A>G,Aag/Gag,MODERATE,,0.96905,1,rs2261167,1(T),0.0(B),-1.465(N),-0.9654(T),,chr4,40810747,40810747,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys650Glu/c.1948A>G|718|NSUN7|protein_coding|CODING|NM_024677.4|12|1),downstream_gene_variant(MODIFIER||1297||758|APBB2|protein_coding|CODING|NM_001166050.1||1),downstream_gene_variant(MODIFIER||1297||210|APBB2|protein_coding|CODING|NM_001166051.1||1),downstream_gene_variant(MODIFIER||1297||210|APBB2|protein_coding|CODING|NM_001166052.1||1),downstream_gene_variant(MODIFIER||1297||210|APBB2|protein_coding|CODING|NM_001166053.1||1),downstream_gene_variant(MODIFIER||1297||210|APBB2|protein_coding|CODING|NM_001166054.1||1),downstream_gene_variant(MODIFIER||1297||759|APBB2|protein_coding|CODING|NM_004307.1||1),downstream_gene_variant(MODIFIER||1297||736|APBB2|protein_coding|CODING|NM_173075.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3",,,,0.9969,0.9568,0.8827,0.92,0.98,0.89,,0.000019(N),0.000(P),3.65(T),0.0000(T),0.234,-0.686917,5.7,5.7,-0.186000,1.426000,2.531000,0.122000,0.174000,0.996000,10.7558
synonymous_variant,APBB2,SILENT,NM_004307.1:p.Gly204Gly/c.612C>T,ggC/ggT,LOW,,0.307308,0.5387,rs2292234,,,,,,chr4,41015823,41015823,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly204Gly/c.612C>T|758|APBB2|protein_coding|CODING|NM_001166050.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly204Gly/c.612C>T|759|APBB2|protein_coding|CODING|NM_004307.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly204Gly/c.612C>T|736|APBB2|protein_coding|CODING|NM_173075.4|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4264,0.2882,0.3131,0.19,0.07,0.24,,,0.001(P),,,.,-1.383928,5.8,-11.6,-1.598000,-4.040000,-2.509000,0.013000,0.000000,0.000000,5.8279
missense_variant,APBB2,MISSENSE,NM_004307.1:p.Arg179Gln/c.536G>A,cGa/cAa,MODERATE,,0.674121,0.8978,rs4861358,0.65(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0.345(N),-1.0230(T),,chr4,41015899,41015899,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg179Gln/c.536G>A|758|APBB2|protein_coding|CODING|NM_001166050.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg179Gln/c.536G>A|759|APBB2|protein_coding|CODING|NM_004307.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg179Gln/c.536G>A|736|APBB2|protein_coding|CODING|NM_173075.4|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8037,0.7262,0.7505,0.65,0.40,0.77,,0.390303(N),1.000(P),"1.96,1.96,1.96,1.96(T,T,T,T)",0.0000(T),0.245,-1.020406,5.6,-2.0,-2.720000,-0.155000,0.384000,0.002000,0.000000,0.000000,2.8538
synonymous_variant,LIMCH1,SILENT,NM_014988.3:p.Thr946Thr/c.2838A>T,acA/acT,LOW,,0.00219649,0,rs146657546,,,,-1.0204(T),,chr4,41687749,41687749,A,T,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr946Thr/c.2838A>T|1057|LIMCH1|protein_coding|CODING|NM_001112717.2|23|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr945Thr/c.2835A>T|1056|LIMCH1|protein_coding|CODING|NM_001112718.2|23|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr791Thr/c.2373A>T|902|LIMCH1|protein_coding|CODING|NM_001112719.2|18|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr779Thr/c.2337A>T|890|LIMCH1|protein_coding|CODING|NM_001112720.2|17|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr958Thr/c.2874A>T|1069|LIMCH1|protein_coding|CODING|NM_001289122.1|23|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr799Thr/c.2397A>T|910|LIMCH1|protein_coding|CODING|NM_001289124.1|23|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr946Thr/c.2838A>T|1083|LIMCH1|protein_coding|CODING|NM_014988.3|23|1)","HUVEC:H3K27me3,HUVEC:H3K36me3,HeLa-S3:H3K36me3",,,,0,0.0029,0.005,0.01,0.00,0.01,,,1.000(N),,0.0255(T),.,0.114137,5.51,-7.93,-1.251000,-1.219000,-0.426000,0.000000,0.001000,0.001000,0.5519
synonymous_variant,PHOX2B,SILENT,NM_003924.3:p.Pro290Pro/c.870C>A,ccC/ccA,LOW,,0.0257588,0,rs17885864,,,,,,chr4,41747899,41747899,G,T,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro290Pro/c.870C>A|314|PHOX2B|protein_coding|CODING|NM_003924.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0153,0.0375,0.0169,0.03,0.06,0.02,,,,,,,,,,,,,,,,
synonymous_variant,DCAF4L1,SILENT,NM_001029955.3:p.Ser103Ser/c.309C>T,agC/agT,LOW,COSM4159076(1),0.658946,0.9593,rs2660320,,,,,,chr4,41984118,41984118,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser103Ser/c.309C>T|396|DCAF4L1|protein_coding|CODING|NM_001029955.3|1|1),"K562:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.8241,0.7983,0.7763,0.60,0.25,0.78,,,,,,,,,,,,,,,,
synonymous_variant,SLC30A9,SILENT,NM_006345.3:p.Pro3Pro/c.9C>G,ccC/ccG,LOW,COSM4159077(1),0.706869,0.9593,rs2581434,,,,,,chr4,41992677,41992677,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro3Pro/c.9C>G|568|SLC30A9|protein_coding|CODING|NM_006345.3|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HeLa-S3:Tr4,K562:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,HepG2:CTCF,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.864,0.8401,0.8151,0.65,0.33,0.82,,,,,,,,,,,,,,,,
missense_variant,SLC30A9,MISSENSE,NM_006345.3:p.Met50Val/c.148A>G,Atg/Gtg,MODERATE,,0.628395,0.9484,rs1047626,1(T),0.0(B),0.69(N),-0.9488(T),,chr4,42003671,42003671,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met50Val/c.148A>G|568|SLC30A9|protein_coding|CODING|NM_006345.3|2|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7751,0.768,0.7565,0.58,0.21,0.76,,0.337003(N),1.000(P),2.06(T),0.0000(T),0.017,-2.015140,4.66,-2.85,-0.316000,-0.527000,-0.933000,0.400000,0.000000,0.000000,4.5984
missense_variant,SLC30A9,MISSENSE,NM_006345.3:p.Thr97Ala/c.289A>G,Aca/Gca,MODERATE,,0.979433,0.996,rs2581423,1(T),0.0(B),-1.04(N),-0.9745(T),,chr4,42020142,42020142,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr97Ala/c.289A>G|568|SLC30A9|protein_coding|CODING|NM_006345.3|3|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9775,0.9899,0.9732,0.98,0.98,0.98,,0.177002(N),1.000(P),2.1(T),0.0000(T),0.015,-1.422232,5.35,3.52,-0.204000,1.280000,0.357000,0.430000,0.916000,0.003000,6.2422
synonymous_variant,SLC30A9,SILENT,NM_006345.3:p.Gly122Gly/c.366C>A,ggC/ggA,LOW,,0.667133,0.9583,rs15857,,,,,,chr4,42022464,42022464,C,A,hom,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly122Gly/c.366C>A|568|SLC30A9|protein_coding|CODING|NM_006345.3|4|1),"K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.8047,0.804,0.7763,0.61,0.28,0.78,,,,,,,,,,,,,,,,
synonymous_variant,KCTD8,SILENT,NM_198353.2:p.Thr423Thr/c.1269A>G,acA/acG,LOW,,0.0395367,0,rs13143747,,,,,,chr4,44176960,44176960,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr423Thr/c.1269A>G|473|KCTD8|protein_coding|CODING|NM_198353.2|2|1),,,,,0.0675,0.0389,0.0984,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,YIPF7,SILENT,NM_182592.2:p.Gly219Gly/c.657T>C,ggT/ggC,LOW,COSM4159083(2),0.551917,0.5585,rs60959366,,,,,,chr4,44626641,44626641,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly219Gly/c.657T>C|280|YIPF7|protein_coding|CODING|NM_182592.2|5|1),,,,,0.5706,0.4625,0.4095,0.45,0.61,0.37,,,,,,,,,,,,,,,,
missense_variant,GUF1,MISSENSE,NM_021927.2:p.Leu58Pro/c.173T>C,cTt/cCt,MODERATE,COSM149668(1),0.440296,0.4018,rs6447368,0.09(T),0.001(B),0(N),-0.9168(T),,chr4,44682465,44682465,T,C,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu58Pro/c.173T>C|669|GUF1|protein_coding|CODING|NM_021927.2|2|1),"K562:H3K4me3,GM12878:H3K79me2,HSMM:H3K36me3,NHEK:H3K4me2,K562:H3K79me2",,,,0.4611,0.5202,0.6014,0.54,0.35,0.64,,0.700199(N),0.999(P),-0.45(T),0.0000(T),0.021,1.072042,5.17,2.83,-0.388000,0.412000,4.783000,0.746000,0.358000,0.824000,7.0188
synonymous_variant,GABRG1,SILENT,NM_173536.3:p.Thr88Thr/c.264A>G,acA/acG,LOW,COSM149669(2),0.508986,0.3304,rs976156,,,,,,chr4,46086060,46086060,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr88Thr/c.264A>G|465|GABRG1|protein_coding|CODING|NM_173536.3|3|1),,,,,0.3252,0.562,0.5517,0.60,0.70,0.55,,,,,,,,,,,,,,,,
synonymous_variant,GABRA2,SILENT,NM_001286827.1:p.Lys77Lys/c.231A>G,aaA/aaG,LOW,,0.363019,0.5327,rs279858,,,,,,chr4,46314593,46314593,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys132Lys/c.396A>G|451|GABRA2|protein_coding|CODING|NM_000807.2|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys132Lys/c.396A>G|451|GABRA2|protein_coding|CODING|NM_001114175.1|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys77Lys/c.231A>G|456|GABRA2|protein_coding|CODING|NM_001286827.1|4|1)",,,,,0.2311,0.4683,0.4284,0.38,0.26,0.44,,,,,,,,,,,,,,,,
missense_variant,GABRA4,MISSENSE,NM_000809.3:p.Leu26Met/c.76C>A,Ctg/Atg,MODERATE,COSM1131120(4),0.300719,0.3879,rs2229940,0.09(T),0.103(B),0.695(N),-1.0524(T),,chr4,46995366,46995366,G,T,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu26Met/c.76C>A|554|GABRA4|protein_coding|CODING|NM_000809.3|1|1),intron_variant(MODIFIER|||c.29+58C>A|535|GABRA4|protein_coding|CODING|NM_001204266.1|1|1),intron_variant(MODIFIER|||c.29+58C>A|484|GABRA4|protein_coding|CODING|NM_001204267.1|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.2106,0.2968,0.3668,0.33,0.26,0.37,,0.108022(N),0.808(P),-1.56(D),0.0000(T),0.206,2.178732,4.72,2.98,0.585000,0.588000,2.533000,0.930000,0.998000,1.000000,6.8007
synonymous_variant,GABRB1,SILENT,NM_000812.3:p.Leu170Leu/c.508T>C,Ttg/Ctg,LOW,,0.969649,1,rs4482737,,,,,,chr4,47322190,47322190,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu170Leu/c.508T>C|474|GABRB1|protein_coding|CODING|NM_000812.3|5|1),,,,,0.999,0.9784,0.9901,0.96,0.91,0.99,,,,,,,,,,,,,,,,
missense_variant,ATP10D,MISSENSE,NM_020453.3:p.Thr43Ile/c.128C>T,aCc/aTc,MODERATE,COSM3760644(2),0.304912,0.1558,rs33995001,0.4(T),"0.096,0.008(B,B)",1.935(M),-0.9108(T),,chr4,47514685,47514685,C,T,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr43Ile/c.128C>T|1426|ATP10D|protein_coding|CODING|NM_020453.3|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2423,0.4352,0.4374,0.39,0.31,0.43,,0.188207(N),1.000(P),"1.12,4.02(T,T)",0.0000(T),0.094,0.305108,5.1,3.3,-0.310000,0.604000,0.341000,0.059000,0.689000,0.000000,6.758
missense_variant,ATP10D,MISSENSE,NM_020453.3:p.Val1240Ile/c.3718G>A,Gtt/Att,MODERATE,,0.299521,0.5724,rs1058793,1(T),0.0(B),-0.16(N),-0.9311(T),,chr4,47584046,47584046,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1240Ile/c.3718G>A|1426|ATP10D|protein_coding|CODING|NM_020453.3|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1605,0.2493,0.16,0.21,0.29,0.16,,0.000173(N),0.000(P),0.7(T),0.0000(T),0.064,0.513172,5.01,5.01,-0.332000,0.947000,5.764000,0.967000,1.000000,1.000000,7.6262
synonymous_variant,ATP10D,SILENT,NM_020453.3:p.Thr1307Thr/c.3921G>A,acG/acA,LOW,,0.170927,0.4921,rs1316874,,,,,,chr4,47589203,47589203,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1307Thr/c.3921G>A|1426|ATP10D|protein_coding|CODING|NM_020453.3|22|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1012,0.1657,0.1034,0.07,0.05,0.08,,,,,,,,,,,,,,,,
missense_variant,ATP10D,MISSENSE,NM_020453.3:p.Ser1389Thr/c.4166G>C,aGt/aCt,MODERATE,COSM3760647(1),0.376997,0.123,rs4145944,0.67(T),0.0(B),-1.01(N),-0.9581(T),,chr4,47593283,47593283,G,C,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser1389Thr/c.4166G>C|1426|ATP10D|protein_coding|CODING|NM_020453.3|23|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2127,0.4006,0.3638,0.44,0.61,0.35,,0.266213(N),1.000(P),1.18(T),0.0000(T),0.065,-0.935039,4.45,3.59,-0.499000,0.480000,0.929000,0.255000,0.002000,0.001000,6.374
missense_variant,CORIN,MISSENSE,NM_006587.3:p.His525Arg/c.1574A>G,cAt/cGt,MODERATE,,0.910942,0.9722,rs11934749,0.89(T),"0.0,0.0(B,B)",-1.7(N),-0.9547(T),,chr4,47667064,47667064,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His421Arg/c.1262A>G|938|CORIN|protein_coding|CODING|NM_001278585.1|9|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His488Arg/c.1463A>G|734|CORIN|protein_coding|CODING|NM_001278586.1|10|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His525Arg/c.1574A>G|1042|CORIN|protein_coding|CODING|NM_006587.3|11|1)",HUVEC:H3K27me3,,,,0.7955,0.879,0.8757,0.89,0.97,0.85,,0.000025(N),1.000(P),"-0.89,-0.89,-0.89,-0.89,-0.89(T,T,T,T,T)",0.0000(T),0.153,-1.731133,5.25,4.33,-0.128000,1.461000,1.501000,0.010000,0.647000,0.996000,12.6099
missense_variant,CORIN,MISSENSE,NM_006587.3:p.Cys13Tyr/c.38G>A,tGc/tAc,MODERATE,COSM4159089(1),0.69349,0.6875,rs2289433,0.87(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.55(N),-1.0275(T),,chr4,47839929,47839929,C,T,het,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys13Tyr/c.38G>A|938|CORIN|protein_coding|CODING|NM_001278585.1|1|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys13Tyr/c.38G>A|734|CORIN|protein_coding|CODING|NM_001278586.1|1|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys13Tyr/c.38G>A|1042|CORIN|protein_coding|CODING|NM_006587.3|1|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2",,,,0.772,0.7363,0.7495,0.71,0.62,0.75,,0.352841(N),1.000(P),"-2.45,-2.47,-2.36,-2.97(D,D,D,D)",0.0000(T),0.025,-1.448693,4.58,-4.22,-2.823000,-1.322000,-0.870000,0.000000,0.000000,0.000000,7.1956
synonymous_variant,NFXL1,SILENT,NM_001278623.1:p.Ala601Ala/c.1803A>G,gcA/gcG,LOW,,0.716853,0.6875,rs2053404,,,,,,chr4,47887536,47887536,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala601Ala/c.1803A>G|911|NFXL1|protein_coding|CODING|NM_001278623.1|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala601Ala/c.1803A>G|911|NFXL1|protein_coding|CODING|NM_001278624.1|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala601Ala/c.1803A>G|911|NFXL1|protein_coding|CODING|NM_152995.5|14|1),non_coding_exon_variant(MODIFIER|||n.1860A>G||NFXL1||CODING|NR_103795.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.773,0.7478,0.7505,0.73,0.68,0.75,,,,,,,,,,,,,,,,
synonymous_variant,NFXL1,SILENT,NM_001278623.1:p.Thr523Thr/c.1569C>T,acC/acT,LOW,,0.716653,0.6875,rs6818556,,,,,,chr4,47887991,47887991,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr523Thr/c.1569C>T|911|NFXL1|protein_coding|CODING|NM_001278623.1|13|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr523Thr/c.1569C>T|911|NFXL1|protein_coding|CODING|NM_001278624.1|13|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr523Thr/c.1569C>T|911|NFXL1|protein_coding|CODING|NM_152995.5|13|1),non_coding_exon_variant(MODIFIER|||n.1626C>T||NFXL1||CODING|NR_103795.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.773,0.7478,0.7505,0.73,0.68,0.75,,,,,,,,,,,,,,,,
missense_variant,NFXL1,MISSENSE,NM_001278623.1:p.Pro246Leu/c.737C>T,cCg/cTg,MODERATE,COSM3760649(2),0.388778,0.6002,rs12651301,0.32(T),1.0(D),2.255(M),-0.9040(T),,chr4,47901476,47901476,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro246Leu/c.737C>T|911|NFXL1|protein_coding|CODING|NM_001278623.1|6|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro246Leu/c.737C>T|911|NFXL1|protein_coding|CODING|NM_001278624.1|6|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro246Leu/c.737C>T|911|NFXL1|protein_coding|CODING|NM_152995.5|6|1),non_coding_exon_variant(MODIFIER|||n.794C>T||NFXL1||CODING|NR_103795.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3487,0.3415,0.327,0.32,0.33,0.31,,0.000000(D),0.000(P),"0.91,0.91,0.91(T,T,T)",0.0000(T),0.358,3.343126,5.58,5.58,0.655000,2.625000,9.434000,0.282000,0.786000,1.000000,19.5578
missense_variant,CNGA1,MISSENSE,NM_001142564.1:p.Asp187Asn/c.559G>A,Gat/Aat,MODERATE,COSM3760650(1),0.199681,0.3036,rs28642966,0.63(T),"0.001,0.001(B,B)",1.43(L),-0.9477(T),,chr4,47945295,47945295,C,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp118Asn/c.352G>A|690|CNGA1|protein_coding|CODING|NM_000087.3|8|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp187Asn/c.559G>A|759|CNGA1|protein_coding|CODING|NM_001142564.1|7|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.1963,0.1902,0.1332,0.12,0.15,0.11,,0.284602(N),0.000(P),"3.38,3.38,3.38,3.38,3.38,1.84(T,T,T,T,T,T)",0.0000(T),0.048,1.262041,4.66,3.8,0.655000,1.072000,0.535000,0.434000,1.000000,0.075000,6.8529
synonymous_variant,CNGA1,SILENT,NM_001142564.1:p.Glu173Glu/c.519A>G,gaA/gaG,LOW,,0.00838658,0,rs76061451,,,,,,chr4,47945417,47945417,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu104Glu/c.312A>G|690|CNGA1|protein_coding|CODING|NM_000087.3|7|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu173Glu/c.519A>G|759|CNGA1|protein_coding|CODING|NM_001142564.1|6|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.0164,0.0086,0.0199,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,CNGA1,SILENT,NM_001142564.1:p.Phe29Phe/c.87C>T,ttC/ttT,LOW,,0.235823,0.3373,rs28475840,,,,,,chr4,47973031,47973031,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe29Phe/c.87C>T|759|CNGA1|protein_coding|CODING|NM_001142564.1|2|1),intron_variant(MODIFIER|||c.-3+10379C>T|690|CNGA1|protein_coding|CODING|NM_000087.3|3|1)",K562:H3K27me3,,,,0.183,0.1988,0.1282,,,,,,,,,,,,,,,,,,,
missense_variant,CNGA1,MISSENSE,NM_001142564.1:p.Ser3Phe/c.8C>T,tCt/tTt,MODERATE,,0.459265,0.3492,rs7693648,0(D),,,-1.0391(T),,chr4,47973110,47973110,G,A,het,"missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser3Phe/c.8C>T|759|CNGA1|protein_coding|CODING|NM_001142564.1|2|1),intron_variant(MODIFIER|||c.-3+10300C>T|690|CNGA1|protein_coding|CODING|NM_000087.3|3|1)",K562:H3K27me3,,,,0.5971,0.5461,0.6322,,,,,,1.000(P),-4.09(D),0.0000(T),0.099,0.007917,0.509,-0.506,-0.332000,-0.330000,-0.364000,0.001000,0.001000,0.002000,.
missense_variant,NIPAL1,MISSENSE,NM_207330.1:p.Ile324Val/c.970A>G,Atc/Gtc,MODERATE,COSM4003090(1),0.204073,0.1637,rs13116684,,0.974(D),2.255(M),-1.1833(T),,chr4,48037926,48037926,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile324Val/c.970A>G|410|NIPAL1|protein_coding|CODING|NM_207330.1|6|1),"GM12878:H3K27ac,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.2096,0.1916,0.2187,0.21,0.20,0.22,,0.000005(N),0.014(P),-3.11(D),0.0013(T),0.066,2.240068,5.96,2.24,-1.122000,0.168000,6.085000,0.095000,0.985000,1.000000,12.2212
synonymous_variant,TXK,SILENT,NM_003328.2:p.Ala514Ala/c.1542C>G,gcC/gcG,LOW,,0.434105,0.4306,rs2230594,,,,,,chr4,48069696,48069696,G,C,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala514Ala/c.1542C>G|527|TXK|protein_coding|CODING|NM_003328.2|15|1),CD4:H3K36me3,,,,0.4489,0.5692,0.5229,0.46,0.33,0.53,,,,,,,,,,,,,,,,
missense_variant,ZAR1,MISSENSE,NM_175619.2:p.Gln42His/c.126G>C,caG/caC,MODERATE,COSM3749876(4),0.986022,1,rs10008444,0.57(T),0.0(B),-0.345(N),-1.0226(T),,chr4,48492434,48492434,G,C,hom,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln42His/c.126G>C|424|ZAR1|protein_coding|CODING|NM_175619.2|1|1),downstream_gene_variant(MODIFIER||893||437|SLC10A4|protein_coding|CODING|NM_152679.3||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,0.99,0.97,1.00,,0.635071(N),1.000(P),,0.0000(T),0.014,-1.426522,4.09,-0.185,-0.676000,-0.405000,0.053000,0.070000,0.000000,0.000000,6.2995
missense_variant,ZAR1,MISSENSE,NM_175619.2:p.Gln154Leu/c.461A>T,cAg/cTg,MODERATE,COSM4159095(1),0.388179,0.4454,rs74929644,0.34(T),0.001(B),0.55(N),-0.8965(T),,chr4,48492769,48492769,A,T,hom,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln154Leu/c.461A>T|424|ZAR1|protein_coding|CODING|NM_175619.2|1|1),downstream_gene_variant(MODIFIER||1228||437|SLC10A4|protein_coding|CODING|NM_152679.3||1)","HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3681,0.572,0.5089,0.32,0.17,0.39,,,1.000(P),,0.0000(T),0.066,1.834066,3.61,-6.17,-0.680000,-0.489000,-0.738000,0.003000,0.002000,0.000000,0.9878
missense_variant,ZAR1,MISSENSE,NM_175619.2:p.Ser310Asn/c.929G>A,aGc/aAc,MODERATE,COSM3760652(4),0.389177,0.4484,rs79858408,0.24(T),0.096(B),1.65(L),-0.9470(T),,chr4,48493237,48493237,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser310Asn/c.929G>A|424|ZAR1|protein_coding|CODING|NM_175619.2|1|1),downstream_gene_variant(MODIFIER||1696||437|SLC10A4|protein_coding|CODING|NM_152679.3||1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3671,0.5749,0.5109,0.30,0.16,0.37,,0.235593(U),1.000(P),,0.0000(T),0.017,1.884874,3.45,2.57,0.561000,0.378000,2.705000,0.011000,0.002000,0.953000,2.2144
synonymous_variant,FRYL,SILENT,NM_015030.1:p.Ser744Ser/c.2232C>T,agC/agT,LOW,,0.38738,0.4464,rs4695391,,,,,,chr4,48582909,48582909,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser744Ser/c.2232C>T|3013|FRYL|protein_coding|CODING|NM_015030.1|22|1),"HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3507,0.5749,0.5189,0.39,0.20,0.48,,,,,,,,,,,,,,,,
missense_variant,CWH43,MISSENSE,NM_025087.2:p.Pro2Thr/c.4C>A,Ccc/Acc,MODERATE,,0.295128,0.1825,rs3747690,,0.0(B),0(N),-0.9182(T),,chr4,48988450,48988450,C,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro2Thr/c.4C>A|699|CWH43|protein_coding|CODING|NM_025087.2|1|1),upstream_gene_variant(MODIFIER||209||672|CWH43|protein_coding|CODING|NM_001286791.1||1)","NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.2894,0.5043,0.492,0.35,0.17,0.44,,0.448797(N),0.001(P),1.59(T),0.0000(T),0.035,0.596628,3.07,-1.03,-0.300000,-0.280000,-1.223000,0.009000,0.008000,0.000000,1.7701
missense_variant,CWH43,MISSENSE,NM_025087.2:p.His689Asn/c.2065C>A,Cat/Aat,MODERATE,COSM4159099(1),0.476637,0.3681,rs1051447,,0.691(P),2.045(M),-1.0004(T),,chr4,49063872,49063872,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His662Asn/c.1984C>A|672|CWH43|protein_coding|CODING|NM_001286791.1|16|1),missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His689Asn/c.2065C>A|699|CWH43|protein_coding|CODING|NM_025087.2|16|1)",NHEK:H3K36me3,,,,0.4918,0.7536,0.7475,0.56,0.28,0.71,,0.004323(N),0.084(P),"1.55,0.97(T,T)",0.0000(T),0.177,2.518520,4.59,4.59,0.561000,2.838000,3.679000,0.972000,1.000000,1.000000,13.2029
missense_variant,SPATA18,MISSENSE,NM_145263.3:p.Ser227Pro/c.679T>C,Tcc/Ccc,MODERATE,COSM3927814(2),0.383387,0.3968,rs3860707,0.29(T),"0.192,0.192(B,B)",1.61(L),-1.0118(T),,chr4,52938243,52938243,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser195Pro/c.583T>C|506|SPATA18|protein_coding|CODING|NM_001297608.1|5|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser227Pro/c.679T>C|538|SPATA18|protein_coding|CODING|NM_145263.3|6|1),non_coding_exon_variant(MODIFIER|||n.1053T>C||SPATA18||CODING|NR_123728.1|6|1)","HUVEC:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.3395,0.6182,0.6441,0.48,0.17,0.64,,0.057626(N),1.000(P),"1.5,1.5(T,T)",0.0000(T),0.291,1.999411,4.12,-3.84,-1.267000,-0.593000,0.287000,0.000000,0.000000,0.000000,16.5276
synonymous_variant,SCFD2,SILENT,NM_152540.3:p.Glu495Glu/c.1485A>G,gaA/gaG,LOW,COSM1131111(1),0.0505192,0.0853,rs79628372,,,,,,chr4,54011576,54011576,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu495Glu/c.1485A>G|684|SCFD2|protein_coding|CODING|NM_152540.3|5|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0348,0.0663,0.0835,0.05,0.01,0.08,,,,,,,,,,,,,,,,
synonymous_variant,GSX2,SILENT,NM_133267.2:p.Ser52Ser/c.156C>T,tcC/tcT,LOW,COSM3760660(3),0.60024,0.8423,rs3194383,,,,,,chr4,54966667,54966667,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser52Ser/c.156C>T|304|GSX2|protein_coding|CODING|NM_133267.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6748,0.7219,0.6143,0.52,0.34,0.62,,,,,,,,,,,,,,,,
missense_variant,GSX2,MISSENSE,NM_133267.2:p.Gly107Ser/c.319G>A,Ggc/Agc,MODERATE,COSM4159109(1),0.994209,1,rs13144341,1(T),0.0(B),0(N),-0.9299(T),,chr4,54966830,54966830,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly107Ser/c.319G>A|304|GSX2|protein_coding|CODING|NM_133267.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,1,1,1,0.99,0.99,1.00,,0.003879(N),0.000(P),"-2.67,1.06(D,T)",0.0000(T),0.108,-0.514501,4.04,1.42,-0.490000,-0.066000,0.548000,0.606000,0.994000,0.996000,9.0004
synonymous_variant,GSX2,SILENT,NM_133267.2:p.His136His/c.408T>C,caT/caC,LOW,COSM1328491(4),0.60004,0.8423,rs1132998,,,,,,chr4,54966919,54966919,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His136His/c.408T>C|304|GSX2|protein_coding|CODING|NM_133267.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.6748,0.7219,0.6133,0.58,0.42,0.67,,,,,,,,,,,,,,,,
synonymous_variant,PDGFRA,SILENT,NM_006206.4:p.Pro567Pro/c.1701A>G,ccA/ccG,LOW,COSM1430082(1),0.957668,1,rs1873778,,,,,,chr4,55141055,55141055,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro567Pro/c.1701A>G|1089|PDGFRA|protein_coding|CODING|NM_006206.4|12|1),"HUVEC:H3K27me3,NH-A:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,0.9928,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PDGFRA,SILENT,NM_006206.4:p.Asp1074Asp/c.3222T>C,gaT/gaC,LOW,,0.997204,1,rs7685117,,,,,,chr4,55161391,55161391,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1074Asp/c.3222T>C|1089|PDGFRA|protein_coding|CODING|NM_006206.4|23|1),"HUVEC:H3K27me3,NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TMEM165,SILENT,NM_018475.4:p.Pro6Pro/c.18A>G,ccA/ccG,LOW,COSM4159115(1),0.755192,0.6776,rs1128141,,,,,,chr4,56262374,56262374,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro6Pro/c.18A>G|324|TMEM165|protein_coding|CODING|NM_018475.4|1|1),non_coding_exon_variant(MODIFIER|||n.295A>G||TMEM165||CODING|NR_073070.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,GM12878:SP1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:PU1,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.82,0.7176,0.6511,,,,,,,,,,,,,,,,,,,
synonymous_variant,CLOCK,SILENT,NM_001267843.1:p.Asn588Asn/c.1764T>C,aaT/aaC,LOW,COSM1131106(1),0.723043,0.6736,rs3736544,,,,,,chr4,56309992,56309992,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn588Asn/c.1764T>C|846|CLOCK|protein_coding|CODING|NM_001267843.1|21|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn588Asn/c.1764T>C|846|CLOCK|protein_coding|CODING|NM_004898.3|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.82,0.7147,0.6501,0.66,0.73,0.62,,,,,,,,,,,,,,,,
synonymous_variant,NMU,SILENT,NM_006681.3:p.Asn76Asn/c.228C>T,aaC/aaT,LOW,,0.197085,0.1042,rs3805383,,,,,,chr4,56475338,56475338,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn60Asn/c.180C>T|158|NMU|protein_coding|CODING|NM_001292045.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn76Asn/c.228C>T|149|NMU|protein_coding|CODING|NM_001292046.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn76Asn/c.228C>T|174|NMU|protein_coding|CODING|NM_006681.3|4|1),non_coding_exon_variant(MODIFIER|||n.271C>T||NMU||CODING|NR_120489.1|4|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,NHEK:H3K4me2",,,,0.3006,0.1844,0.2783,0.22,0.15,0.25,,,,,,,,,,,,,,,,
synonymous_variant,EXOC1,SILENT,NM_001024924.1:p.Ala506Ala/c.1518T>C,gcT/gcC,LOW,COSM3760667(1),0.325879,0.5278,rs2290016,,,,,,chr4,56756531,56756531,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala506Ala/c.1518T>C|894|EXOC1|protein_coding|CODING|NM_001024924.1|12|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala506Ala/c.1518T>C|894|EXOC1|protein_coding|CODING|NM_018261.3|12|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala491Ala/c.1473T>C|879|EXOC1|protein_coding|CODING|NM_178237.2|11|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2791,0.281,0.2843,0.29,0.28,0.29,,,,,,,,,,,,,,,,
missense_variant,CEP135,MISSENSE,NM_025009.4:p.Ile769Leu/c.2305A>C,Ata/Cta,MODERATE,,0.139177,0.0913,rs3214045,0.32(T),0.0(B),-1.12(N),-0.9028(T),,chr4,56874517,56874517,A,C,het,missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile769Leu/c.2305A>C|1140|CEP135|protein_coding|CODING|NM_025009.4|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116668.2,,0.138,0.1182,0.2714,0.21,0.12,0.26,,0.580002(N),0.957(P),2.33(T),0.0000(T),0.013,-1.216297,5.62,-6.14,-3.568000,-0.994000,-1.014000,0.010000,0.003000,0.062000,7.6315
missense_variant,KIAA1211,MISSENSE,NM_020722.1:p.Leu269Ile/c.805C>A,Ctc/Atc,MODERATE,,0.29393,0.0675,rs6823339,0.52(T),"0.406,0.328,0.328(B,B,B)",1.61(L),-0.9500(T),,chr4,57180473,57180473,C,A,hom,missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu269Ile/c.805C>A|1233|KIAA1211|protein_coding|CODING|NM_020722.1|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:Znf263,K562:H3K27me3,HepG2:H3K36me3",,,,0.3241,0.2839,0.4095,0.37,0.32,0.39,,,1.000(P),"2.67,2.67,2.66(T,T,T)",0.0000(T),0.109,1.859468,4.77,3.02,0.462000,0.428000,0.877000,0.959000,0.975000,0.004000,2.6747
synonymous_variant,KIAA1211,SILENT,NM_020722.1:p.Ala316Ala/c.948G>C,gcG/gcC,LOW,COSM3749878(4),0.301917,0.0694,rs11723379,,,,,,chr4,57180616,57180616,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala316Ala/c.948G>C|1233|KIAA1211|protein_coding|CODING|NM_020722.1|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:Znf263,K562:H3K27me3",,,,0.32,0.2853,0.4095,0.33,0.32,0.34,,,,,,,,,,,,,,,,
missense_variant,KIAA1211,MISSENSE,NM_020722.1:p.Arg655Pro/c.1964G>C,cGc/cCc,MODERATE,,0.987021,1,rs7672073,0.74(T),"0.0,0.0(B,B)",-1.59(N),-1.0178(T),,chr4,57181632,57181632,G,C,hom,missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg655Pro/c.1964G>C|1233|KIAA1211|protein_coding|CODING|NM_020722.1|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,1,0.9957,1,0.98,0.95,1.00,,,1.000(P),"4.49,4.49,4.49(T,T,T)",0.0000(T),0.103,0.062083,4.48,3.64,-0.216000,0.526000,3.460000,0.001000,0.000000,0.090000,9.6317
synonymous_variant,KIAA1211,SILENT,NM_020722.1:p.Arg1155Arg/c.3465G>A,agG/agA,LOW,COSM1131105(1),0.225439,0.0704,rs7695701,,,,,,chr4,57190356,57190356,G,A,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg1155Arg/c.3465G>A|1233|KIAA1211|protein_coding|CODING|NM_020722.1|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.3354,0.268,0.4135,0.32,0.13,0.41,,,,,,,,,,,,,,,,
missense_variant,AASDH,MISSENSE,NM_181806.3:p.Ala747Val/c.2240C>T,gCg/gTg,MODERATE,COSM1131104(2),0.277955,0.0724,rs3796544,0.56(T),"0.003,0.001,0.001,0.0(B,B,B,B)",-1.67(N),-1.0523(T),,chr4,57215677,57215677,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala747Val/c.2240C>T|841|AASDH|protein_coding|CODING|NM_001286672.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala647Val/c.1940C>T|998|AASDH|protein_coding|CODING|NM_001286668.1|10|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala594Val/c.1781C>T|945|AASDH|protein_coding|CODING|NM_001286669.1|10|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala262Val/c.785C>T|613|AASDH|protein_coding|CODING|NM_001286670.1|8|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala747Val/c.2240C>T|857|AASDH|protein_coding|CODING|NM_001286671.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala747Val/c.2240C>T|1098|AASDH|protein_coding|CODING|NM_181806.3|11|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3303,0.2939,0.4155,0.38,0.29,0.43,,0.527586(N),1.000(P),"-0.03,0.1,2.3,0.51,0.52(T,T,T,T,T)",0.0000(T),0.069,-1.407769,5.26,-10.5,-2.178000,-2.299000,-0.527000,0.006000,0.000000,0.000000,1.9415
synonymous_variant,AASDH,SILENT,NM_181806.3:p.Asp518Asp/c.1554C>T,gaC/gaT,LOW,,0.645767,0.5268,rs6554348,,,,,,chr4,57219592,57219592,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp418Asp/c.1254C>T|998|AASDH|protein_coding|CODING|NM_001286668.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp365Asp/c.1095C>T|945|AASDH|protein_coding|CODING|NM_001286669.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp33Asp/c.99C>T|613|AASDH|protein_coding|CODING|NM_001286670.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp518Asp/c.1554C>T|857|AASDH|protein_coding|CODING|NM_001286671.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp518Asp/c.1554C>T|841|AASDH|protein_coding|CODING|NM_001286672.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp518Asp/c.1554C>T|1098|AASDH|protein_coding|CODING|NM_181806.3|9|1)","HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.6656,0.7406,0.6322,0.63,0.65,0.62,,,,,,,,,,,,,,,,
synonymous_variant,AASDH,SILENT,NM_181806.3:p.Ser265Ser/c.795C>T,tcC/tcT,LOW,COSM1131103(2),0.277955,0.0724,rs6554354,,,,,,chr4,57237683,57237683,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser165Ser/c.495C>T|998|AASDH|protein_coding|CODING|NM_001286668.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser112Ser/c.336C>T|945|AASDH|protein_coding|CODING|NM_001286669.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser265Ser/c.795C>T|857|AASDH|protein_coding|CODING|NM_001286671.1|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser265Ser/c.795C>T|841|AASDH|protein_coding|CODING|NM_001286672.1|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser265Ser/c.795C>T|1098|AASDH|protein_coding|CODING|NM_181806.3|5|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||613|AASDH|protein_coding|CODING|NM_001286670.1|4|1),5_prime_UTR_variant(MODIFIER||17993|c.-381C>T|613|AASDH|protein_coding|CODING|NM_001286670.1|4|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3303,0.2939,0.4155,0.38,0.29,0.43,,,,,,,,,,,,,,,,
synonymous_variant,PPAT,SILENT,NM_002703.4:p.Ser57Ser/c.171G>C,tcG/tcC,LOW,COSM1131102(3),0.260184,0.0704,rs11538098,,,,,,chr4,57273840,57273840,C,G,hom,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser57Ser/c.171G>C|517|PPAT|protein_coding|CODING|NM_002703.4|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3252,0.2795,0.4016,0.36,0.25,0.42,,,,,,,,,,,,,,,,
synonymous_variant,THEGL,SILENT,NM_001256475.1:p.Arg70Arg/c.208A>C,Aga/Cga,LOW,,0.428315,0.4107,rs28550555,,,,,,chr4,57397050,57397050,A,C,hom,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg70Arg/c.208A>C|465|THEGL|protein_coding|CODING|NM_001256475.1|1|1),"CD4:H3K9me1,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K27me3,CD4:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,,,0.4039,0.5447,0.2555,,,,,,,,,,,,,,,,,,,
synonymous_variant,THEGL,SILENT,NM_001256475.1:p.His80His/c.240T>C,caT/caC,LOW,,0.440296,0.4107,rs28470886,,,,,,chr4,57397082,57397082,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His80His/c.240T>C|465|THEGL|protein_coding|CODING|NM_001256475.1|1|1),"CD4:H3K9me1,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K27me3,CD4:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,,,0.4039,0.5447,0.2555,,,,,,,,,,,,,,,,,,,
synonymous_variant,THEGL,SILENT,NM_001256475.1:p.Pro118Pro/c.354C>G,ccC/ccG,LOW,,0.263978,0.1597,rs28565512,,,,,,chr4,57397196,57397196,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro118Pro/c.354C>G|465|THEGL|protein_coding|CODING|NM_001256475.1|1|1),"CD4:H3K9me1,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,HMEC:H3K27me3,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,,,0.271,0.3573,0.168,,,,,,,,,,,,,,,,,,,
missense_variant,NOA1,MISSENSE,NM_032313.2:p.Pro601Leu/c.1802C>T,cCt/cTt,MODERATE,,0.000998403,0,rs138345362,0(D),0.999(D),2.885(M),-0.4104(T),,chr4,57830655,57830655,G,A,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro601Leu/c.1802C>T|698|NOA1|protein_coding|CODING|NM_032313.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.004,0.00,0.00,0.00,,0.000000(D),1.000(D),1.14(T),0.2894(T),0.665,4.128204,5.4,5.4,0.557000,2.678000,7.421000,0.551000,0.998000,1.000000,19.1247
synonymous_variant,NOA1,SILENT,NM_032313.2:p.Cys144Cys/c.432T>C,tgT/tgC,LOW,COSM3749879(9),0.9998,1,rs4865167,,,,,,chr4,57843320,57843320,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys144Cys/c.432T>C|698|NOA1|protein_coding|CODING|NM_032313.2|1|1),upstream_gene_variant(MODIFIER||1789||1174|POLR2B|protein_coding|CODING|NM_000938.1||1)","NHEK:CTCF,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,GM12878:ZEB1,GM12878:EBF,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,H1ESC:CTCF,GM12878:Sin3Ak20",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,POLR2B,SILENT,NM_000938.1:p.Ala530Ala/c.1590G>A,gcG/gcA,LOW,COSM3760685(2),0.386781,0.2986,rs1718878,,,,,,chr4,57876955,57876955,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala530Ala/c.1590G>A|1174|POLR2B|protein_coding|CODING|NM_000938.1|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.2954,0.3469,0.37,0.43,0.34,,,,,,,,,,,,,,,,
synonymous_variant,POLR2B,SILENT,NM_000938.1:p.Thr616Thr/c.1848G>A,acG/acA,LOW,COSM1430352(3),0.386182,0.2986,rs1713982,,,,,,chr4,57881715,57881715,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr616Thr/c.1848G>A|1174|POLR2B|protein_coding|CODING|NM_000938.1|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.2954,0.3469,0.37,0.43,0.34,,,,,,,,,,,,,,,,
synonymous_variant,POLR2B,SILENT,NM_000938.1:p.Ser899Ser/c.2697C>T,agC/agT,LOW,COSM1131099(1),0.551917,0.6786,rs1056364,,,,,,chr4,57889677,57889677,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser899Ser/c.2697C>T|1174|POLR2B|protein_coding|CODING|NM_000938.1|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.4438,0.6412,0.5845,0.55,0.49,0.58,,,,,,,,,,,,,,,,
synonymous_variant,LPHN3,SILENT,NM_015236.4:p.His204His/c.612C>T,caC/caT,LOW,COSM1131097(1),0.789936,0.9454,rs10434219,,,,,,chr4,62598689,62598689,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His204His/c.612C>T|1469|LPHN3|protein_coding|CODING|NM_015236.4|5|1),,,,,0.684,0.768,0.6153,0.69,0.86,0.60,,,,,,,,,,,,,,,,
synonymous_variant,LPHN3,SILENT,NM_015236.4:p.Asn693Asn/c.2079T>C,aaT/aaC,LOW,,0.679912,0.5933,rs734644,,,,-1.0352(T),,chr4,62800728,62800728,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn693Asn/c.2079T>C|1469|LPHN3|protein_coding|CODING|NM_015236.4|11|1),,,,,0.6053,0.6153,0.7276,0.77,0.80,0.75,,,0.000(P),,0.0000(T),.,0.098427,5.54,4.69,-0.128000,0.895000,1.626000,0.843000,1.000000,1.000000,9.924
synonymous_variant,LPHN3,SILENT,NM_015236.4:p.Arg903Arg/c.2709G>C,cgG/cgC,LOW,,0.816294,0.8433,rs1397547,,,,-1.1023(T),,chr4,62845388,62845388,G,C,hom,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg903Arg/c.2709G>C|1469|LPHN3|protein_coding|CODING|NM_015236.4|15|1),,,,,0.8139,0.9207,0.9404,0.87,0.71,0.95,,,0.000(P),,0.0000(T),.,1.024943,5.5,-9.09,-0.352000,-2.320000,-2.476000,0.981000,0.589000,0.000000,11.3139
synonymous_variant,EPHA5,SILENT,NM_001281765.1:p.Gly966Gly/c.2898G>A,ggG/ggA,LOW,,0.326677,0.4613,rs7349683,,,,,,chr4,66197804,66197804,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly966Gly/c.2898G>A|1004|EPHA5|protein_coding|CODING|NM_001281767.1|17|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly966Gly/c.2898G>A|1038|EPHA5|protein_coding|CODING|NM_001281765.1|17|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly944Gly/c.2832G>A|1016|EPHA5|protein_coding|CODING|NM_001281766.1|16|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly965Gly/c.2895G>A|1037|EPHA5|protein_coding|CODING|NM_004439.6|17|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly943Gly/c.2829G>A|1015|EPHA5|protein_coding|CODING|NM_182472.3|16|1)",NH-A:H3K36me3,,,,0.4714,0.3098,0.3748,0.28,0.14,0.36,,,,,,,,,,,,,,,,
synonymous_variant,STAP1,SILENT,NM_012108.2:p.Thr118Thr/c.354A>G,acA/acG,LOW,COSM3760695(2),0.398163,0.1706,rs11556614,,,,,,chr4,68442968,68442968,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr118Thr/c.354A>G|295|STAP1|protein_coding|CODING|NM_012108.2|4|1),,,,,0.3609,0.3977,0.5835,0.59,0.48,0.64,,,,,,,,,,,,,,,,
synonymous_variant,STAP1,SILENT,NM_012108.2:p.Asn127Asn/c.381C>T,aaC/aaT,LOW,COSM3760696(1),0.125998,0.005,rs11556615,,,,,,chr4,68447040,68447040,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn127Asn/c.381C>T|295|STAP1|protein_coding|CODING|NM_012108.2|5|1),"GM12878:H3K27ac,HepG2:H3K27me3,GM12878:H3K4me2",,,,0.1166,0.1628,0.2475,0.22,0.14,0.27,,,,,,,,,,,,,,,,
synonymous_variant,GNRHR,SILENT,NM_000406.2:p.Ser151Ser/c.453C>T,agC/agT,LOW,,0.0664936,0.0069,rs4986942,,,,,,chr4,68619601,68619601,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser151Ser/c.453C>T|328|GNRHR|protein_coding|CODING|NM_000406.2|1|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser151Ser/c.453C>T|249|GNRHR|protein_coding|CODING|NM_001012763.1|1|1)",,,,,0.0675,0.0908,0.0815,0.10,0.11,0.10,,,,,,,,,,,,,,,,
synonymous_variant,TMPRSS11A,SILENT,NM_182606.3:p.Asp337Asp/c.1011T>C,gaT/gaC,LOW,COSM3760697(4),0.484225,0.6587,rs1371932,,,,,,chr4,68780399,68780399,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp334Asp/c.1002T>C|418|TMPRSS11A|protein_coding|CODING|NM_001114387.1|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp337Asp/c.1011T>C|421|TMPRSS11A|protein_coding|CODING|NM_182606.3|9|1)",NHEK:DNase1,,,,0.5204,0.4323,0.5268,0.50,0.36,0.57,,,,,,,,,,,,,,,,
missense_variant,TMPRSS11A,MISSENSE,NM_182606.3:p.Gln293Arg/c.878A>G,cAg/cGg,MODERATE,COSM4003117(1),0.73143,0.8194,rs353163,1(T),0.0(B),,-0.9297(T),,chr4,68784774,68784774,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln290Arg/c.869A>G|418|TMPRSS11A|protein_coding|CODING|NM_001114387.1|8|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln293Arg/c.878A>G|421|TMPRSS11A|protein_coding|CODING|NM_182606.3|8|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.6718,0.5793,0.6312,0.74,0.84,0.68,,0.000130(N),1.000(P),"-3.09,-3.09,-3.09,-3.09(D,D,D,D)",0.0000(T),0.029,-2.034154,5.36,4.51,-0.186000,0.640000,1.452000,0.144000,0.000000,0.065000,8.0628
synonymous_variant,TMPRSS11A,SILENT,NM_182606.3:p.Val6Val/c.18G>A,gtG/gtA,LOW,COSM4003118(1),0.620807,0.8105,rs11930532,,,,,,chr4,68812283,68812283,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val6Val/c.18G>A|418|TMPRSS11A|protein_coding|CODING|NM_001114387.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val6Val/c.18G>A|421|TMPRSS11A|protein_coding|CODING|NM_182606.3|2|1)",,,,,0.7761,0.6037,0.7843,0.66,0.34,0.83,,,,,,,,,,,,,,,,
missense_variant,TMPRSS11F,MISSENSE,NM_207407.2:p.Ala4Thr/c.10G>A,Gca/Aca,MODERATE,,0.328874,0.4593,rs10030708,0.28(T),0.161(B),0(N),-0.9828(T),,chr4,68995529,68995529,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala4Thr/c.10G>A|438|TMPRSS11F|protein_coding|CODING|NM_207407.2|1|1),splice_region_variant(LOW|||c.10G>A|438|TMPRSS11F|protein_coding|CODING|NM_207407.2|1|1)","NHEK:H3K4me2,HMEC:DNase1,NHEK:DNase1,K562:DNase1",,,,0.3395,0.2061,0.2793,0.31,0.37,0.28,,0.064593(N),0.911(P),-2.4(D),0.0000(T),0.092,1.521943,5.24,1.66,-0.133000,0.102000,0.109000,0.334000,0.836000,0.830000,3.955
missense_variant,TMPRSS11B,MISSENSE,NM_182502.3:p.Thr348Ser/c.1042A>T,Aca/Tca,MODERATE,,0.71845,0.9901,rs2319797,0.16(T),0.076(B),-0.175(N),-0.9952(T),,chr4,69094507,69094507,T,A,het,missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr348Ser/c.1042A>T|416|TMPRSS11B|protein_coding|CODING|NM_182502.3|9|1),,,,,0.8988,0.6023,0.7306,0.69,0.52,0.78,,0.329382(N),1.000(P),-3.04(D),0.0000(T),0.078,-0.247950,4.62,0.489,-0.408000,0.362000,-0.054000,0.003000,0.001000,0.000000,2.6718
missense_variant,TMPRSS11B,MISSENSE,NM_182502.3:p.Asp325Ala/c.974A>C,gAc/gCc,MODERATE,,0.994209,1,rs2319796,1(T),0.0(B),-3.715(N),-0.9086(T),,chr4,69094575,69094575,T,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp325Ala/c.974A>C|416|TMPRSS11B|protein_coding|CODING|NM_182502.3|9|1),,,,,1,0.9971,0.999,1.00,0.99,1.00,,0.000684(N),1.000(P),-2.84(D),0.0000(T),0.057,-0.861419,4.62,4.62,-0.121000,1.339000,4.562000,0.588000,0.378000,1.000000,12.314
missense_variant,TMPRSS11B,MISSENSE,NM_182502.3:p.Ile242Val/c.724A>G,Att/Gtt,MODERATE,,0.718051,0.9901,rs12331141,0.52(T),0.008(B),0.375(N),-0.9995(T),,chr4,69095197,69095197,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile242Val/c.724A>G|416|TMPRSS11B|protein_coding|CODING|NM_182502.3|8|1),,,,,0.8967,0.6023,0.7306,0.69,0.52,0.78,,0.481557(N),1.000(P),-2.44(D),0.0000(T),0.058,-1.661019,4.62,0.639,0.459000,0.042000,1.437000,0.061000,0.042000,0.961000,4.989
synonymous_variant,UGT2B17,SILENT,NM_001077.3:p.Ala384Ala/c.1152A>G,gcA/gcG,LOW,COSM3826091(2),,,rs13102139,,,,,,chr4,69416556,69416556,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala384Ala/c.1152A>G|530|UGT2B17|protein_coding|CODING|NM_001077.3|5|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,UGT2B17,SILENT,NM_001077.3:p.Tyr355Tyr/c.1065T>C,taT/taC,LOW,COSM3774149(2),0.597444,0.7897,rs28374627,,,,,,chr4,69417570,69417570,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr355Tyr/c.1065T>C|530|UGT2B17|protein_coding|CODING|NM_001077.3|4|1),"HMEC:DNase1,NHEK:DNase1",,,,0.6391,0.5274,0.7296,0.56,0.39,0.66,,,,,,,,,,,,,,,,
synonymous_variant,UGT2B17,SILENT,NM_001077.3:p.Glu163Glu/c.489G>A,gaG/gaA,LOW,COSM3760700(2),0.282947,0.0476,rs34664906,,,,,,chr4,69433714,69433714,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu163Glu/c.489G>A|530|UGT2B17|protein_coding|CODING|NM_001077.3|1|1),,,,,0.2474,0.4798,0.3549,0.39,0.34,0.42,,,,,,,,,,,,,,,,
synonymous_variant,UGT2B7,SILENT,NM_001074.2:p.Pro267Pro/c.801A>T,ccA/ccT,LOW,COSM1131074(1),0.665136,0.7252,rs7438284,,,,,,chr4,69964337,69964337,A,T,het,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro267Pro/c.801A>T|529|UGT2B7|protein_coding|CODING|NM_001074.2|2|1),"HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,0.6012,0.6801,0.5149,0.16,0.26,0.11,,,,,,,,,,,,,,,,
missense_variant,UGT2B7,MISSENSE,NM_001074.2:p.Tyr268His/c.802T>C,Tat/Cat,MODERATE,COSM4005793(1),0.665136,0.7252,rs7439366,,0.001(B),,-0.9188(T),,chr4,69964338,69964338,T,C,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr268His/c.802T>C|529|UGT2B7|protein_coding|CODING|NM_001074.2|2|1),"HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,0.6012,0.6801,0.5149,0.18,0.28,0.13,,0.001702(N),1.000(P),"0.28,0.28,0.28(T,T,T)",0.0000(T),0.044,-0.789279,2.68,1.83,-0.221000,0.441000,1.919000,0.003000,0.172000,0.022000,7.7078
synonymous_variant,UGT2B7,SILENT,NM_001074.2:p.Leu353Leu/c.1059C>G,ctC/ctG,LOW,,0.670927,0.7242,rs4292394,,,,,,chr4,69972949,69972949,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu353Leu/c.1059C>G|529|UGT2B7|protein_coding|CODING|NM_001074.2|4|1),HepG2:H3K36me3,,,,0.5511,0.6859,0.5149,0.57,0.75,0.48,,,,,,,,,,,,,,,,
synonymous_variant,UGT2B4,SILENT,NM_021139.2:p.Thr316Thr/c.948A>G,acA/acG,LOW,,0.9998,1,rs1845555,,,,,,chr4,70355211,70355211,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr316Thr/c.948A>G|369|UGT2B4|protein_coding|CODING|NM_001297615.1|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr180Thr/c.540A>G|392|UGT2B4|protein_coding|CODING|NM_001297616.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr316Thr/c.948A>G|528|UGT2B4|protein_coding|CODING|NM_021139.2|3|1)",,,,,0.999,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,UGT2A2,MISSENSE,NM_001105677.2:p.Gly317Arg/c.949G>A,Gga/Aga,MODERATE,,0.0700879,0.0565,rs4148301,0(D),"0.999,0.999(D,D)",4.02(H),-0.3915(T),,chr4,70462042,70462042,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly317Arg/c.949G>A|536|UGT2A2|protein_coding|CODING|NM_001105677.2|3|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly308Arg/c.922G>A|527|UGT2A1|protein_coding|CODING|NM_006798.4|4|1),intron_variant(MODIFIER|||c.1495-1075G>A|693|UGT2A1|protein_coding|CODING|NM_001252274.2|4|1),intron_variant(MODIFIER|||c.997-1075G>A|527|UGT2A1|protein_coding|CODING|NM_001252275.2|4|1),intron_variant(MODIFIER|||c.892-1075G>A|492|UGT2A2|protein_coding|CODING|NM_001301233.1|2|1),intron_variant(MODIFIER|||c.865-1075G>A|483|UGT2A1|protein_coding|CODING|NM_001301239.1|2|1)",,,,,0.0593,0.0908,0.0974,0.09,0.08,0.10,,0.000000(D),,"-3.92,-3.92(D,D)",0.4024(T),0.56,5.046584,5.41,5.41,0.591000,2.530000,7.517000,0.995000,1.000000,1.000000,16.687
missense_variant,UGT2A1,MISSENSE,NM_001252275.2:p.Ala252Val/c.755C>T,gCg/gTg,MODERATE,,,,,0.2(T),,,-0.9020(T),,chr4,70501501,70501501,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala252Val/c.755C>T|527|UGT2A1|protein_coding|CODING|NM_001252275.2|3|1),intron_variant(MODIFIER|||c.742+3116C>T|536|UGT2A2|protein_coding|CODING|NM_001105677.2|1|1),intron_variant(MODIFIER|||c.1345+3116C>T|693|UGT2A1|protein_coding|CODING|NM_001252274.2|3|1),intron_variant(MODIFIER|||c.742+3116C>T|492|UGT2A2|protein_coding|CODING|NM_001301233.1|1|1),intron_variant(MODIFIER|||c.715+11147C>T|483|UGT2A1|protein_coding|CODING|NM_001301239.1|1|1),intron_variant(MODIFIER|||c.715+11147C>T|527|UGT2A1|protein_coding|CODING|NM_006798.4|2|1)",HUVEC:H3K27me3,,,,,,,,,,,,,0.97(T),0.1023(T),0.061,0.585511,0.207,0.207,0.289000,0.284000,-1.148000,0.012000,0.016000,0.000000,.
missense_variant,UGT2A1,MISSENSE,NM_001252275.2:p.Ala250Val/c.749C>T,gCa/gTa,MODERATE,,,,,0.12(T),,,-0.6354(T),,chr4,70501507,70501507,G,A,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala250Val/c.749C>T|527|UGT2A1|protein_coding|CODING|NM_001252275.2|3|1),intron_variant(MODIFIER|||c.742+3110C>T|536|UGT2A2|protein_coding|CODING|NM_001105677.2|1|1),intron_variant(MODIFIER|||c.1345+3110C>T|693|UGT2A1|protein_coding|CODING|NM_001252274.2|3|1),intron_variant(MODIFIER|||c.742+3110C>T|492|UGT2A2|protein_coding|CODING|NM_001301233.1|1|1),intron_variant(MODIFIER|||c.715+11141C>T|483|UGT2A1|protein_coding|CODING|NM_001301239.1|1|1),intron_variant(MODIFIER|||c.715+11141C>T|527|UGT2A1|protein_coding|CODING|NM_006798.4|2|1)",HUVEC:H3K27me3,,,,,,,,,,,,,-0.02(T),0.2212(T),0.076,0.136229,0.207,0.207,0.289000,0.284000,-0.340000,0.010000,0.012000,0.000000,.
missense_variant,UGT2A1,MISSENSE,NM_001252275.2:p.Ser249Asn/c.746G>A,aGt/aAt,MODERATE,,,,,0.09(T),,,-0.6765(T),,chr4,70501510,70501510,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser249Asn/c.746G>A|527|UGT2A1|protein_coding|CODING|NM_001252275.2|3|1),intron_variant(MODIFIER|||c.742+3107G>A|536|UGT2A2|protein_coding|CODING|NM_001105677.2|1|1),intron_variant(MODIFIER|||c.1345+3107G>A|693|UGT2A1|protein_coding|CODING|NM_001252274.2|3|1),intron_variant(MODIFIER|||c.742+3107G>A|492|UGT2A2|protein_coding|CODING|NM_001301233.1|1|1),intron_variant(MODIFIER|||c.715+11138G>A|483|UGT2A1|protein_coding|CODING|NM_001301239.1|1|1),intron_variant(MODIFIER|||c.715+11138G>A|527|UGT2A1|protein_coding|CODING|NM_006798.4|2|1)",HUVEC:H3K27me3,,,,,,,,,,,,,0.08(T),0.1941(T),0.077,0.067165,0.207,0.207,0.289000,0.284000,0.488000,0.008000,0.008000,0.001000,.
missense_variant,UGT2A1,MISSENSE,NM_001252275.2:p.Cys245Arg/c.733T>C,Tgc/Cgc,MODERATE,,,,,0.89(T),,,-0.9622(T),,chr4,70501523,70501523,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys245Arg/c.733T>C|527|UGT2A1|protein_coding|CODING|NM_001252275.2|3|1),intron_variant(MODIFIER|||c.742+3094T>C|536|UGT2A2|protein_coding|CODING|NM_001105677.2|1|1),intron_variant(MODIFIER|||c.1345+3094T>C|693|UGT2A1|protein_coding|CODING|NM_001252274.2|3|1),intron_variant(MODIFIER|||c.742+3094T>C|492|UGT2A2|protein_coding|CODING|NM_001301233.1|1|1),intron_variant(MODIFIER|||c.715+11125T>C|483|UGT2A1|protein_coding|CODING|NM_001301239.1|1|1),intron_variant(MODIFIER|||c.715+11125T>C|527|UGT2A1|protein_coding|CODING|NM_006798.4|2|1)",HUVEC:H3K27me3,,,,,,,,,,,,,0.23(T),0.0727(T),0.159,-0.914068,0.207,0.207,0.240000,0.243000,0.559000,0.027000,0.027000,0.003000,.
missense_variant,UGT2A1,MISSENSE,NM_001252275.2:p.Cys244Phe/c.731G>T,tGt/tTt,MODERATE,,,,,1(T),,,-0.9884(T),,chr4,70501525,70501525,C,A,het,"missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys244Phe/c.731G>T|527|UGT2A1|protein_coding|CODING|NM_001252275.2|3|1),intron_variant(MODIFIER|||c.742+3092G>T|536|UGT2A2|protein_coding|CODING|NM_001105677.2|1|1),intron_variant(MODIFIER|||c.1345+3092G>T|693|UGT2A1|protein_coding|CODING|NM_001252274.2|3|1),intron_variant(MODIFIER|||c.742+3092G>T|492|UGT2A2|protein_coding|CODING|NM_001301233.1|1|1),intron_variant(MODIFIER|||c.715+11123G>T|483|UGT2A1|protein_coding|CODING|NM_001301239.1|1|1),intron_variant(MODIFIER|||c.715+11123G>T|527|UGT2A1|protein_coding|CODING|NM_006798.4|2|1)",HUVEC:H3K27me3,,,,,,,,,,,,,0.17(T),0.0583(T),0.058,-1.222872,0.207,-0.414,-0.734000,-0.747000,-1.394000,0.016000,0.016000,0.001000,.
missense_variant,UGT2A1,MISSENSE,NM_001252274.2:p.Arg75Lys/c.224G>A,aGg/aAg,MODERATE,,1,1,rs1347046,0.12(T),"0.001,0.0,0.0(B,B,B)",-0.48(N),-1.0285(T),,chr4,70513139,70513139,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg75Lys/c.224G>A|693|UGT2A1|protein_coding|CODING|NM_001252274.2|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg75Lys/c.224G>A|527|UGT2A1|protein_coding|CODING|NM_001252275.2|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg75Lys/c.224G>A|483|UGT2A1|protein_coding|CODING|NM_001301239.1|1|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg75Lys/c.224G>A|527|UGT2A1|protein_coding|CODING|NM_006798.4|2|1)",,,,,1,1,1,,,,,0.625811(N),,"0.31,0.11,0.31,0.31,0.31(T,T,T,T,T)",0.0000(T),0.25,0.277314,5.93,0.266,-1.126000,-0.096000,0.552000,0.029000,0.000000,0.000000,5.0125
missense_variant,CSN1S1,MISSENSE,NM_001890.1:p.Ala117Val/c.350C>T,gCc/gTc,MODERATE,COSM3760710(1),0.376398,0.2887,rs10030475,1(T),"0.0,0.0,0.0(B,B,B)",0.2(N),-0.9789(T),,chr4,70807771,70807771,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala108Val/c.323C>T|176|CSN1S1|protein_coding|CODING|NM_001025104.1|12|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala117Val/c.350C>T|185|CSN1S1|protein_coding|CODING|NM_001890.1|13|1)",,,,,0.4775,0.4568,0.4085,0.37,0.31,0.39,,,1.000(P),"1.05,0.98,0.98,0.98,0.99(T,T,T,T,T)",0.0000(T),0.041,-0.981317,4.61,-4.5,-3.067000,-1.313000,-1.097000,0.000000,0.000000,0.000000,7.9829
synonymous_variant,HTN3,SILENT,NM_000200.2:p.Gly42Gly/c.126C>T,ggC/ggT,LOW,COSM1131070(2),0.11242,0.2024,rs1849937,,,,,,chr4,70898907,70898907,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly42Gly/c.126C>T|51|HTN3|protein_coding|CODING|NM_000200.2|5|1),,,,,0.1145,0.1614,0.1143,0.08,0.03,0.10,,,,,,,,,,,,,,,,
synonymous_variant,ODAM,SILENT,NM_017855.3:p.Ala16Ala/c.48C>A,gcC/gcA,LOW,COSM3760712(2),0.0924521,0.0079,rs61747755,,,,,,chr4,71062308,71062308,C,A,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala16Ala/c.48C>A|279|ODAM|protein_coding|CODING|NM_017855.3|1|1),,,,,0.2474,0.1009,0.1342,0.11,0.03,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ODAM,SILENT,NM_017855.3:p.Leu23Leu/c.69C>T,ctC/ctT,LOW,,0.288538,0.2996,rs17704351,,,,,,chr4,71062426,71062426,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu23Leu/c.69C>T|279|ODAM|protein_coding|CODING|NM_017855.3|2|1),,,,,0.5194,0.2032,0.2753,0.26,0.20,0.28,,,,,,,,,,,,,,,,
missense_variant,ODAM,MISSENSE,NM_017855.3:p.Ile222Thr/c.665T>C,aTa/aCa,MODERATE,,0.283746,0.3006,rs3196714,0.51(T),0.005(B),1.15(L),-1.0167(T),,chr4,71068489,71068489,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile222Thr/c.665T>C|279|ODAM|protein_coding|CODING|NM_017855.3|9|1),HUVEC:H3K27me3,,,,0.501,0.2017,0.2753,0.25,0.19,0.29,,0.418965(N),1.000(P),"0.74,0.74(T,T)",0.0000(T),0.034,0.355955,4.85,0.676,-0.254000,0.042000,0.329000,0.001000,0.000000,0.002000,7.0742
missense_variant,CABS1,MISSENSE,NM_033122.3:p.Thr211Ile/c.632C>T,aCt/aTt,MODERATE,,0.923522,1,rs1351419,0.67(T),0.0(B),-0.345(N),-1.0047(T),,chr4,71201388,71201388,C,T,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr211Ile/c.632C>T|395|CABS1|protein_coding|CODING|NM_033122.3|1|1),,,,,0.9796,0.9611,0.9553,0.90,0.81,0.95,,0.265926(N),1.000(P),2.01(T),0.0000(T),0.042,-1.989316,4.57,1.19,-0.254000,0.024000,-0.279000,0.007000,0.028000,0.000000,7.9447
missense_variant,CABS1,MISSENSE,NM_033122.3:p.Trp298Gly/c.892T>G,Tgg/Ggg,MODERATE,COSM3760714(2),0.114417,0.2004,rs2291182,0.12(T),0.998(D),1.04(L),-1.0911(T),,chr4,71201648,71201648,T,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp298Gly/c.892T>G|395|CABS1|protein_coding|CODING|NM_033122.3|1|1),,,,,0.2106,0.072,0.1024,0.07,0.02,0.09,,0.001527(N),0.127(P),0.87(T),0.0003(T),0.381,3.068482,4.79,4.79,0.533000,2.138000,3.336000,0.016000,0.831000,0.992000,10.9003
stop_retained_variant,CABS1,SILENT,NM_033122.3:p.Ter396Ter/c.1187A>G,tAa/tGa,LOW,COSM3760715(1),0.197883,0.1726,rs13039,,,,,,chr4,71201943,71201943,A,G,het,stop_retained_variant(LOW|SILENT|tAa/tGa|p.Ter396Ter/c.1187A>G|395|CABS1|protein_coding|CODING|NM_033122.3|1|1),,,,,0.1963,0.1902,0.1948,0.17,0.19,0.16,,,,,,,,,,,,,,,,
synonymous_variant,SMR3A,SILENT,NM_012390.3:p.Ala15Ala/c.45G>A,gcG/gcA,LOW,,0.128195,0,rs62322478,,,,,,chr4,71227877,71227877,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala15Ala/c.45G>A|134|SMR3A|protein_coding|CODING|NM_012390.3|2|1),,,,,0.0327,0.0807,0.1143,0.17,0.30,0.11,,,,,,,,,,,,,,,,
missense_variant,SMR3A,MISSENSE,NM_012390.3:p.Cys42Arg/c.124T>C,Tgt/Cgt,MODERATE,,0.953075,1,rs10024123,0.93(T),0.0(B),0(N),-0.9726(T),,chr4,71232430,71232430,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys42Arg/c.124T>C|134|SMR3A|protein_coding|CODING|NM_012390.3|3|1),,,,,0.9867,0.9611,0.9553,0.94,0.91,0.95,,,1.000(P),1.67(T),0.0000(T),0.017,-0.518856,2.47,0.653,-1.043000,-0.121000,-0.444000,0.000000,0.000000,0.000000,2.6358
missense_variant,SMR3A,MISSENSE,NM_012390.3:p.Pro132Leu/c.395C>T,cCt/cTt,MODERATE,COSM1131068(3),0.658946,0.5903,rs6853742,1(T),0.012(B),0(N),-0.9585(T),,chr4,71232701,71232701,C,T,hom,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro132Leu/c.395C>T|134|SMR3A|protein_coding|CODING|NM_012390.3|3|1),,,,,0.5194,0.7017,0.6909,0.70,0.77,0.67,,,1.000(P),1.63(T),0.0000(T),0.055,0.102743,3.34,1.6,-0.254000,0.420000,0.013000,0.000000,0.000000,0.000000,5.7651
synonymous_variant,PROL1,SILENT,NM_021225.4:p.Val114Val/c.342A>G,gtA/gtG,LOW,COSM4003127(1),0.11242,0.2153,rs61336549,,,,,,chr4,71275387,71275387,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val114Val/c.342A>G|248|PROL1|protein_coding|CODING|NM_021225.4|3|1),,,,,0.2004,0.0634,0.1014,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,MUC7,MISSENSE,NM_001145006.1:p.Asn80Lys/c.240C>G,aaC/aaG,MODERATE,COSM4003128(1),0.310304,0.4077,rs6826961,0.64(T),0.005(B),0.205(N),-0.9489(T),,chr4,71346701,71346701,C,G,het,"missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn80Lys/c.240C>G|377|MUC7|protein_coding|CODING|NM_001145006.1|4|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn80Lys/c.240C>G|377|MUC7|protein_coding|CODING|NM_001145007.1|4|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn80Lys/c.240C>G|377|MUC7|protein_coding|CODING|NM_152291.2|3|1)",HepG2:H3K27me3,,,,0.4008,0.196,0.2207,0.26,0.30,0.24,,,1.000(P),"0.67,0.66,0.67,0.67(T,T,T,T)",0.0000(T),0.011,-2.263479,1.55,-3.1,-0.344000,-1.398000,-3.185000,0.005000,0.000000,0.000000,0.0984
missense_variant,MUC7,MISSENSE,NM_001145006.1:p.Thr291Ile/c.872C>T,aCa/aTa,MODERATE,,0.00559105,0,rs72655156,,0.982(D),0.55(N),-1.0035(T),,chr4,71347333,71347333,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr291Ile/c.872C>T|377|MUC7|protein_coding|CODING|NM_001145006.1|4|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr291Ile/c.872C>T|377|MUC7|protein_coding|CODING|NM_001145007.1|4|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr291Ile/c.872C>T|377|MUC7|protein_coding|CODING|NM_152291.2|3|1)",HepG2:H3K27me3,,,,0.002,0.0086,0.0199,0.02,0.00,0.02,,,1.000(N),"0.35,0.35,0.35(T,T,T)",0.0961(T),0.048,1.140465,1.52,1.52,0.505000,1.122000,3.421000,0.002000,0.002000,0.384000,8.9663
missense_variant,AMTN,MISSENSE,NM_212557.3:p.Asn45Ser/c.134A>G,aAt/aGt,MODERATE,COSM3760718(3),0.104233,0.2014,rs7660807,0.1(T),"0.033,0.033(B,B)",1.04(L),-1.0478(T),,chr4,71388551,71388551,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn45Ser/c.134A>G|209|AMTN|protein_coding|CODING|NM_212557.3|3|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn44Ser/c.131A>G|208|AMTN|protein_coding|CODING|NM_001286731.1|3|1)","HMEC:DNase1,NHEK:DNase1",,,,0.1728,0.0591,0.1004,0.06,0.02,0.08,,0.082650(N),0.987(P),"1.41,1.4(T,T)",0.0001(T),0.039,2.697081,5.37,1.44,0.533000,0.032000,-0.247000,0.943000,0.994000,0.872000,5.5572
synonymous_variant,AMTN,SILENT,NM_212557.3:p.Ile197Ile/c.591C>T,atC/atT,LOW,COSM1131067(2),0.273762,0.1994,rs17676820,,,,,,chr4,71396989,71396989,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile196Ile/c.588C>T|208|AMTN|protein_coding|CODING|NM_001286731.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile197Ile/c.591C>T|209|AMTN|protein_coding|CODING|NM_212557.3|8|1)",HUVEC:H3K27me3,,,,0.2577,0.4568,0.4453,0.35,0.18,0.44,,,,,,,,,,,,,,,,
missense_variant,AMBN,MISSENSE,NM_016519.5:p.Leu354Pro/c.1061T>C,cTt/cCt,MODERATE,,0.0175719,0,rs72654387,0(D),0.994(D),2.215(M),-0.9094(T),,chr4,71472164,71472164,T,C,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu354Pro/c.1061T>C|447|AMBN|protein_coding|CODING|NM_016519.5|13|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.0102,0.0245,0.0606,0.04,0.01,0.06,,0.009840(N),1.000(D),"0.97,0.97(T,T)",0.0393(T),0.372,1.927978,5.7,5.7,0.482000,2.180000,3.603000,0.028000,0.927000,0.896000,12.3505
missense_variant,GRSF1,MISSENSE,NM_002092.3:p.Ser95Pro/c.283T>C,Tct/Cct,MODERATE,,0.98742,1,rs6813092,0.48(T),0.0(B),0(N),-1.0269(T),,chr4,71705262,71705262,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser95Pro/c.283T>C|480|GRSF1|protein_coding|CODING|NM_002092.3|1|1),upstream_gene_variant(MODIFIER||42||318|GRSF1|protein_coding|CODING|NM_001098477.1||1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,0.9971,1,,,,,,1.000(P),2.18(T),0.0000(T),0.06,-1.985424,3.03,-1.33,-0.338000,-1.009000,-0.499000,0.031000,0.001000,0.008000,0.1319
synonymous_variant,SLC4A4,SILENT,NM_001134742.1:p.His997His/c.2991C>T,caC/caT,LOW,,0.782348,0.75,rs1453458,,,,,,chr4,72425863,72425863,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His997His/c.2991C>T|1079|SLC4A4|protein_coding|CODING|NM_001098484.2|23|1),synonymous_variant(LOW|SILENT|caC/caT|p.His997His/c.2991C>T|1094|SLC4A4|protein_coding|CODING|NM_001134742.1|23|1),synonymous_variant(LOW|SILENT|caC/caT|p.His953His/c.2859C>T|1035|SLC4A4|protein_coding|CODING|NM_003759.3|20|1)","NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3",,,,0.8047,0.8617,0.9642,0.86,0.66,0.96,,,,,,,,,,,,,,,,
missense_variant,SLC4A4,MISSENSE,NM_001134742.1:p.Ile1074Leu/c.3220A>C,Ata/Cta,MODERATE,,0.171725,0.1181,rs1062677,0.02(D),0.0(B),0.345(N),-1.0899(T),,chr4,72433545,72433545,A,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile1074Leu/c.3220A>C|1094|SLC4A4|protein_coding|CODING|NM_001134742.1|25|1),3_prime_UTR_variant(MODIFIER||781|c.*77A>C|1079|SLC4A4|protein_coding|CODING|NM_001098484.2|26|1),3_prime_UTR_variant(MODIFIER||781|c.*77A>C|1035|SLC4A4|protein_coding|CODING|NM_003759.3|23|1)",IMR90:H3K36me3,,,,0.1851,0.3487,0.1849,0.17,0.13,0.19,,,0.000(P),-1.21(T),0.0000(T),0.062,2.371522,5.62,4.42,0.477000,1.053000,3.445000,0.988000,1.000000,1.000000,13.1225
missense_variant,GC,MISSENSE,NM_001204307.1:p.His464Arg/c.1391A>G,cAc/cGc,MODERATE,,0.992812,1,rs9016,1(T),"0.0,0.0(B,B)",,-0.9645(T),,chr4,72618296,72618296,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His445Arg/c.1334A>G|474|GC|protein_coding|CODING|NM_000583.3|11|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His445Arg/c.1334A>G|474|GC|protein_coding|CODING|NM_001204306.1|12|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His464Arg/c.1391A>G|493|GC|protein_coding|CODING|NM_001204307.1|12|1)",,,,,0.9959,1,1,0.99,0.98,1.00,,0.002256(N),1.000(P),"2.66,2.66,2.66(T,T,T)",0.0000(T),0.021,-1.294432,5.33,0.982,-0.197000,-0.340000,-1.659000,0.001000,0.004000,0.000000,2.8516
missense_variant,GC,MISSENSE,NM_001204307.1:p.Asp451Glu/c.1353T>G,gaT/gaG,MODERATE,COSM149688(1),0.381589,0.2996,rs7041,0.43(T),"0.001,0.001(B,B)",1.085(L),-0.9386(T),,chr4,72618334,72618334,A,C,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp432Glu/c.1296T>G|474|GC|protein_coding|CODING|NM_000583.3|11|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp432Glu/c.1296T>G|474|GC|protein_coding|CODING|NM_001204306.1|12|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp451Glu/c.1353T>G|493|GC|protein_coding|CODING|NM_001204307.1|12|1)",,,RCV000017357.1,,0.5368,0.5375,0.5835,0.43,0.17,0.56,,0.230909(N),1.000(P),"2.22,2.22,2.22(T,T,T)",0.0000(T),0.036,0.724733,5.33,-10.0,-1.055000,-1.287000,-3.805000,0.001000,0.000000,0.000000,6.1018
missense_variant,ADAMTS3,MISSENSE,NM_014243.2:p.Arg138Lys/c.413G>A,aGa/aAa,MODERATE,,0.642971,0.6677,rs386613840,0.31(T),0.001(B),0.405(N),-1.0726(T),,chr4,73414286,73414286,C,T,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg138Lys/c.413G>A|1205|ADAMTS3|protein_coding|CODING|NM_014243.2|3|1),K562:H3K36me3,,,,0.453,0.5058,0.6431,0.68,0.79,0.63,,0.037357(N),1.000(P),3.35(T),0.0000(T),0.009,1.502355,5.76,4.64,-0.254000,0.584000,1.423000,0.667000,1.000000,1.000000,6.7468
synonymous_variant,COX18,SILENT,NM_001300729.1:p.Pro224Pro/c.672C>T,ccC/ccT,LOW,,0.341454,0.3879,rs3762883,,,,,,chr4,73930552,73930552,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro70Pro/c.210C>T|182|COX18|protein_coding|CODING|NM_001297733.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro224Pro/c.672C>T|336|COX18|protein_coding|CODING|NM_001300729.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro221Pro/c.663C>T|333|COX18|protein_coding|CODING|NM_173827.3|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro222Pro/c.666C>T|334|COX18|protein_coding|CODING|NM_001297732.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.2983,0.4563,0.36,0.24,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD17,SILENT,NM_032217.3:p.Leu2203Leu/c.6609C>T,ctC/ctT,LOW,COSM3760723(2),0.351837,0.3849,rs6855349,,,,,,chr4,73956736,73956736,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu2090Leu/c.6270C>T|2490|ANKRD17|protein_coding|CODING|NM_001286771.1|29|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu2203Leu/c.6609C>T|2603|ANKRD17|protein_coding|CODING|NM_032217.3|29|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1952Leu/c.5856C>T|2352|ANKRD17|protein_coding|CODING|NM_198889.1|28|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.2968,0.4483,0.37,0.28,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD17,SILENT,NM_032217.3:p.Ala1086Ala/c.3258A>G,gcA/gcG,LOW,,0.997404,1,rs6822576,,,,,,chr4,73991006,73991006,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala973Ala/c.2919A>G|2490|ANKRD17|protein_coding|CODING|NM_001286771.1|17|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1086Ala/c.3258A>G|2603|ANKRD17|protein_coding|CODING|NM_032217.3|17|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala835Ala/c.2505A>G|2352|ANKRD17|protein_coding|CODING|NM_198889.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,1.00,0.99,1.00,,,0.000(P),,,.,0.501365,5.35,-10.7,-2.253000,-3.498000,-0.818000,0.594000,0.029000,0.028000,11.7136
synonymous_variant,ANKRD17,SILENT,NM_032217.3:p.Ala558Ala/c.1674C>T,gcC/gcT,LOW,,,,rs147154404,,,,,,chr4,74013043,74013043,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala445Ala/c.1335C>T|2490|ANKRD17|protein_coding|CODING|NM_001286771.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala558Ala/c.1674C>T|2603|ANKRD17|protein_coding|CODING|NM_032217.3|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala558Ala/c.1674C>T|2352|ANKRD17|protein_coding|CODING|NM_198889.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,ALB,SILENT,NM_000477.5:p.Leu556Leu/c.1668C>T,ctC/ctT,LOW,,0.483427,0.5565,rs962004,,,,-0.9142(T),,chr4,74285239,74285239,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu556Leu/c.1668C>T|609|ALB|protein_coding|CODING|NM_000477.5|13|1),"HepG2:PolII,HepG2:HEY1,HepG2:H3K36me3",,,,0.4714,0.4078,0.5507,0.52,0.42,0.57,,,0.755(P),,0.0000(T),.,-0.566117,6.17,-1.7,-0.826000,-0.037000,-0.122000,0.491000,0.012000,0.441000,6.398
synonymous_variant,AFP,SILENT,NM_001134.2:p.Thr547Thr/c.1641A>G,acA/acG,LOW,,0.977037,1,rs4235117,,,,,,chr4,74318330,74318330,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr547Thr/c.1641A>G|609|AFP|protein_coding|CODING|NM_001134.2|12|1),"HUVEC:H3K27me3,HepG2:PolII,HepG2:HEY1,HepG2:H3K36me3",,,,1,0.9971,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,RASSF6,MISSENSE,NM_201431.2:p.Ser163Pro/c.487T>C,Tct/Cct,MODERATE,COSM3736358(1),0.263379,0.1141,rs12507775,0.22(T),"0.038,0.014,0.012(B,B,B)",0.95(L),-0.9369(T),,chr4,74451073,74451073,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser131Pro/c.391T>C|303|RASSF6|protein_coding|CODING|NM_001270391.1|6|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser119Pro/c.355T>C|325|RASSF6|protein_coding|CODING|NM_001270392.1|5|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser131Pro/c.391T>C|337|RASSF6|protein_coding|CODING|NM_177532.4|6|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser163Pro/c.487T>C|369|RASSF6|protein_coding|CODING|NM_201431.2|6|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.2321,0.4712,0.2833,0.28,0.30,0.28,,0.022498(N),0.415(P),"1.14,1.14,1.14,1.14(T,T,T,T)",0.0000(T),0.114,0.980560,5.91,4.74,0.533000,2.254000,1.490000,0.463000,1.000000,0.988000,4.8405
synonymous_variant,CXCL5,SILENT,NM_002994.4:p.Gln56Gln/c.168A>G,caA/caG,LOW,,0.813099,0.9643,rs425535,,,,,,chr4,74863997,74863997,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln56Gln/c.168A>G|114|CXCL5|protein_coding|CODING|NM_002994.4|2|1),"H1ESC:PolII,HSMM:H2AZ,H1ESC:H3K9ac,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:H3K4me3,NH-A:H3K27me3,NHEK:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.9213,0.8761,0.8867,0.79,0.60,0.89,,,,,,,,,,,,,,,,
synonymous_variant,EREG,SILENT,NM_001432.2:p.Glu117Glu/c.351A>G,gaA/gaG,LOW,,0.767772,0.6984,rs2367707,,,,,,chr4,75248434,75248434,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu117Glu/c.351A>G|169|EREG|protein_coding|CODING|NM_001432.2|4|1),"K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.7219,0.8285,0.8101,0.78,0.75,0.79,,,,,,,,,,,,,,,,
missense_variant,PARM1,MISSENSE,NM_015393.3:p.Ser127Leu/c.380C>T,tCg/tTg,MODERATE,COSM149691(1),0.332668,0.1617,rs3822109,0.43(T),0.001(B),0.255(N),-0.9609(T),,chr4,75937971,75937971,C,T,hom,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser127Leu/c.380C>T|310|PARM1|protein_coding|CODING|NM_015393.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.4734,0.2767,0.4612,0.39,0.31,0.43,,0.137058(N),1.000(P),0.83(T),0.0000(T),0.011,0.807576,5.34,-3.27,-0.993000,-1.309000,-0.478000,0.000000,0.000000,0.000000,2.3283
synonymous_variant,PARM1,SILENT,NM_015393.3:p.Pro196Pro/c.588G>A,ccG/ccA,LOW,COSM149692(1),0.319289,0.1627,rs3775527,,,,,,chr4,75938179,75938179,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro196Pro/c.588G>A|310|PARM1|protein_coding|CODING|NM_015393.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.4714,0.2637,0.4523,0.37,0.28,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PARM1,SILENT,NM_015393.3:p.Val215Val/c.645A>G,gtA/gtG,LOW,COSM4003136(2),0.413738,0.2143,rs1062293,,,,,,chr4,75938236,75938236,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val215Val/c.645A>G|310|PARM1|protein_coding|CODING|NM_015393.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.5286,0.3473,0.5338,0.47,0.43,0.50,,,,,,,,,,,,,,,,
missense_variant,USO1,MISSENSE,NM_001290049.1:p.Phe482Ser/c.1445T>C,tTc/tCc,MODERATE,,0.752796,0.8988,rs13119659,0.56(T),,,-0.9972(T),,chr4,76720885,76720885,T,C,het,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe482Ser/c.1445T>C|922|USO1|protein_coding|CODING|NM_001290049.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe471Ser/c.1412T>C|911|USO1|protein_coding|CODING|NM_003715.3|12|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.1445T>C|922|USO1|protein_coding|CODING|NM_001290049.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.1412T>C|911|USO1|protein_coding|CODING|NM_003715.3|12|1|WARNING_TRANSCRIPT_INCOMPLETE)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.771,0.7637,0.6541,0.67,0.69,0.67,,0.000000(D),0.000(P),-0.09(T),0.0000(T),.,1.662401,5.31,1.34,-1.564000,-0.226000,0.553000,0.732000,0.996000,1.000000,11.3443
missense_variant,USO1,MISSENSE,NM_001290049.1:p.Arg623Lys/c.1868G>A,aGg/aAg,MODERATE,COSM3774150(1),0.652556,0.8859,rs324726,,,,-1.0189(T),,chr4,76722353,76722353,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg623Lys/c.1868G>A|922|USO1|protein_coding|CODING|NM_001290049.1|17|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg612Lys/c.1835G>A|911|USO1|protein_coding|CODING|NM_003715.3|15|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.1868G>A|922|USO1|protein_coding|CODING|NM_001290049.1|17|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.1835G>A|911|USO1|protein_coding|CODING|NM_003715.3|15|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.635,0.768,0.7604,0.63,0.38,0.74,,,0.000(P),,0.0000(T),.,1.235310,5.61,1.24,-0.360000,-0.361000,2.553000,0.876000,0.956000,1.000000,14.5499
synonymous_variant,PPEF2,SILENT,NM_006239.2:p.Ile533Ile/c.1599T>C,atT/atC,LOW,,0.990815,1,rs1394916,,,,,,chr4,76793228,76793228,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile533Ile/c.1599T>C|753|PPEF2|protein_coding|CODING|NM_006239.2|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3",,,,0.999,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,PPEF2,MISSENSE,NM_006239.2:p.Met481Leu/c.1441A>C,Atg/Ctg,MODERATE,,0.998802,1,rs6858658,1(T),"0.001,0.0(B,B)",-2.23(N),-0.9528(T),,chr4,76794345,76794345,T,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met481Leu/c.1441A>C|753|PPEF2|protein_coding|CODING|NM_006239.2|12|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,1,0.9986,1,1.00,1.00,1.00,,0.000306(N),1.000(P),-1.65(D),0.0000(T),0.061,-1.453548,5.37,3.63,-0.969000,0.668000,3.044000,0.000000,0.346000,1.000000,6.9163
synonymous_variant,PPEF2,SILENT,NM_006239.2:p.Pro197Pro/c.591G>A,ccG/ccA,LOW,,0.86222,0.9891,rs1976518,,,,,,chr4,76805902,76805902,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro197Pro/c.591G>A|753|PPEF2|protein_coding|CODING|NM_006239.2|8|1),"HUVEC:H3K27me3,K562:H3K27me3",,,,0.9867,0.9467,0.9821,0.85,0.59,0.98,,,,,,,,,,,,,,,,
synonymous_variant,PPEF2,SILENT,NM_006239.2:p.Ser171Ser/c.513T>C,agT/agC,LOW,COSM4159186(1),0.995008,1,rs7691755,,,,,,chr4,76809386,76809386,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser171Ser/c.513T>C|753|PPEF2|protein_coding|CODING|NM_006239.2|6|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.999,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,NAAA,MISSENSE,NM_014435.3:p.Phe334Leu/c.1000T>C,Ttc/Ctc,MODERATE,COSM1567262(2),0.744409,0.5387,rs6823734,0.65(T),0.0(B),-1.89(N),-0.9371(T),,chr4,76836137,76836137,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe334Leu/c.1000T>C|359|NAAA|protein_coding|CODING|NM_014435.3|10|1),splice_region_variant(LOW|||c.1000T>C|359|NAAA|protein_coding|CODING|NM_014435.3|10|1),intron_variant(MODIFIER|||c.970-3631T>C|323|NAAA|protein_coding|CODING|NM_001042402.1|8|1)","NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7106,0.6974,0.7127,0.77,0.93,0.70,,0.001268(N),1.000(P),0.11(T),0.0000(T),0.68,2.021135,5.38,-7.99,-1.088000,-1.179000,-1.111000,0.073000,0.001000,0.000000,5.4366
missense_variant,NAAA,MISSENSE,NM_014435.3:p.Val151Ile/c.451G>A,Gtc/Atc,MODERATE,,0.218051,0.3581,rs4859571,0.48(T),"0.003,0.002,0.003(B,B,B)",-0.145(N),-1.0444(T),,chr4,76857309,76857309,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val151Ile/c.451G>A|323|NAAA|protein_coding|CODING|NM_001042402.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val151Ile/c.451G>A|359|NAAA|protein_coding|CODING|NM_014435.3|3|1)","NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1851,0.2983,0.2306,0.19,0.11,0.23,,0.450872(N),1.000(P),"-1.46,-1.46,-1.46,-1.46,0.98(T,T,T,T,T)",0.0000(T),0.057,-1.336236,5.9,-10.3,-3.866000,-2.251000,-0.818000,0.000000,0.000000,0.000000,1.4382
synonymous_variant,SDAD1,SILENT,NM_018115.3:p.Asp584Asp/c.1752C>T,gaC/gaT,LOW,,0.227636,0.3641,rs2242470,,,,,,chr4,76878688,76878688,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp547Asp/c.1641C>T|650|SDAD1|protein_coding|CODING|NM_001288983.1|18|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp487Asp/c.1461C>T|590|SDAD1|protein_coding|CODING|NM_001288984.1|19|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp584Asp/c.1752C>T|687|SDAD1|protein_coding|CODING|NM_018115.3|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.3055,0.2465,0.21,0.13,0.25,,,,,,,,,,,,,,,,
missense_variant,SDAD1,MISSENSE,NM_018115.3:p.Ser575Cys/c.1724C>G,tCc/tGc,MODERATE,COSM3760741(1),0.278954,0.0734,rs2242471,0.04(D),"0.612,0.312(P,B)",1.445(L),-1.1526(T),,chr4,76878716,76878716,G,C,het,"missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser538Cys/c.1613C>G|650|SDAD1|protein_coding|CODING|NM_001288983.1|18|1),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser478Cys/c.1433C>G|590|SDAD1|protein_coding|CODING|NM_001288984.1|19|1),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser575Cys/c.1724C>G|687|SDAD1|protein_coding|CODING|NM_018115.3|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4499,0.2089,0.4225,0.34,0.25,0.39,,0.000037(D),0.776(P),"1.89,-2.12(T,D)",0.0000(T),0.065,3.509480,5.15,5.15,0.650000,2.581000,3.973000,0.983000,1.000000,1.000000,16.483
missense_variant,ART3,MISSENSE,NM_001130016.2:p.Ser363Leu/c.1088C>T,tCg/tTg,MODERATE,COSM3760744(1),0.483826,0.5982,rs1128864,0.19(T),"0.003,0.003,0.006,0.006(B,B,B,B)",0.35(N),-0.9650(T),,chr4,77033590,77033590,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser363Leu/c.1088C>T|389|ART3|protein_coding|CODING|NM_001130016.2|12|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser341Leu/c.1022C>T|367|ART3|protein_coding|CODING|NM_001130017.2|10|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser352Leu/c.1055C>T|378|ART3|protein_coding|CODING|NM_001179.5|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.3824,0.4035,0.2346,0.37,0.63,0.24,,0.521410(N),1.000(P),"2.98,2.8,2.76(T,T,T)",0.0000(T),0.165,0.369077,5.6,2.52,-1.175000,0.741000,0.816000,0.003000,0.818000,0.275000,11.0566
synonymous_variant,NUP54,SILENT,NM_017426.3:p.Asp188Asp/c.564T>C,gaT/gaC,LOW,COSM3760746(1),0.155152,0.3512,rs11097244,,,,,,chr4,77055474,77055474,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp140Asp/c.420T>C|459|NUP54|protein_coding|CODING|NM_001278603.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp188Asp/c.564T>C|507|NUP54|protein_coding|CODING|NM_017426.3|5|1),intron_variant(MODIFIER|||n.622-1602T>C||NUP54||CODING|NR_103782.1|5|1),non_coding_exon_variant(MODIFIER|||n.478T>C||NUP54||CODING|NR_103780.1|4|1),non_coding_exon_variant(MODIFIER|||n.478T>C||NUP54||CODING|NR_103781.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1288,0.1297,0.1312,0.12,0.07,0.15,,,,,,,,,,,,,,,,
synonymous_variant,NUP54,SILENT,NM_017426.3:p.Thr120Thr/c.360T>C,acT/acC,LOW,COSM3760747(2),0.154952,0.3512,rs11558468,,,,,,chr4,77057501,77057501,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr72Thr/c.216T>C|459|NUP54|protein_coding|CODING|NM_001278603.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr120Thr/c.360T>C|507|NUP54|protein_coding|CODING|NM_017426.3|4|1),intron_variant(MODIFIER|||n.622-3629T>C||NUP54||CODING|NR_103782.1|5|1),intron_variant(MODIFIER|||n.437-1986T>C||NUP54||CODING|NR_103780.1|3|1),intron_variant(MODIFIER|||n.437-1986T>C||NUP54||CODING|NR_103781.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.1282,0.1312,0.12,0.07,0.15,,,,,,,,,,,,,,,,
synonymous_variant,NUP54,SILENT,NM_017426.3:p.Ala38Ala/c.114A>G,gcA/gcG,LOW,COSM149697(3),0.154952,0.3512,rs11558469,,,,,,chr4,77065580,77065580,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala38Ala/c.114A>G|459|NUP54|protein_coding|CODING|NM_001278603.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala38Ala/c.114A>G|507|NUP54|protein_coding|CODING|NM_017426.3|2|1),non_coding_exon_variant(MODIFIER|||n.255A>G||NUP54||CODING|NR_103780.1|2|1),non_coding_exon_variant(MODIFIER|||n.255A>G||NUP54||CODING|NR_103781.1|2|1),non_coding_exon_variant(MODIFIER|||n.440A>G||NUP54||CODING|NR_103782.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.1282,0.1312,0.12,0.07,0.15,,,,,,,,,,,,,,,,
missense_variant,FAM47E,MISSENSE,NM_001136570.2:p.Thr366Met/c.1097C>T,aCg/aTg,MODERATE,COSM149698(1),0.655152,0.4286,rs1036788,1(T),"0.0,0.001(B,B)",-2.47(N),-0.9542(T),,chr4,77201487,77201487,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr366Met/c.1097C>T|393|FAM47E|protein_coding|CODING|NM_001136570.2|7|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr268Met/c.803C>T|295|FAM47E|protein_coding|CODING|NM_001242936.1|7|1),intron_variant(MODIFIER|||c.1026+2110C>T|351|FAM47E-STBD1|protein_coding|CODING|NM_001242939.1|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6585,0.6816,0.7982,0.78,0.73,0.80,,0.000014(N),0.000(P),"1.23,1.23,1.88(T,T,T)",0.0000(T),0.081,-0.901963,5.68,4.51,-0.360000,0.525000,1.050000,0.511000,1.000000,1.000000,7.5254
synonymous_variant,CCDC158,SILENT,NM_001042784.1:p.His207His/c.621T>C,caT/caC,LOW,,0.226837,0.0724,rs17001890,,,,,,chr4,77305346,77305346,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His207His/c.621T>C|1113|CCDC158|protein_coding|CODING|NM_001042784.1|5|1),"HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.2474,0.1585,0.2565,0.27,0.30,0.25,,,,,,,,,,,,,,,,
missense_variant,SHROOM3,MISSENSE,NM_020859.3:p.Gly279Ala/c.836G>C,gGc/gCc,MODERATE,,0.664936,0.6022,rs344140,1(T),0.003(B),0(N),-0.9030(T),,chr4,77660162,77660162,G,C,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly279Ala/c.836G>C|1996|SHROOM3|protein_coding|CODING|NM_020859.3|5|1),"H1ESC:H3K36me3,IMR90:H2BK120ac,IMR90:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K14ac,IMR90:H3K56ac,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4me1,IMR90:H3K4ac,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,HepG2:H3K27me3,IMR90:H2BK20ac,GM06990:H3K36me3,IMR90:H4K8ac",,,,0.729,0.7003,0.7107,0.71,0.63,0.75,,0.981540(N),1.000(P),1.02(T),0.0000(T),0.011,-2.357150,6.02,-0.947,-0.765000,-0.361000,0.784000,0.011000,0.074000,0.272000,18.3861
missense_variant,SHROOM3,MISSENSE,NM_020859.3:p.Pro469Ala/c.1405C>G,Ccg/Gcg,MODERATE,COSM1431106(2),0.438498,0.2688,rs344141,0.08(T),"0.996,0.15(D,B)",2.255(M),-0.8963(T),,chr4,77660731,77660731,C,G,hom,missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro469Ala/c.1405C>G|1996|SHROOM3|protein_coding|CODING|NM_020859.3|5|1),"H1ESC:H3K36me3,IMR90:H2BK120ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4305,0.4856,0.6064,0.56,0.44,0.61,,0.000090(N),0.003(P),0.85(T),0.0000(T),0.077,2.300121,5.49,4.63,0.563000,1.265000,3.257000,0.150000,0.988000,1.000000,15.816
synonymous_variant,SHROOM3,SILENT,NM_020859.3:p.Ser933Ser/c.2799C>T,tcC/tcT,LOW,COSM3760751(2),0.0373403,0.004,rs36036308,,,,,,chr4,77662125,77662125,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser933Ser/c.2799C>T|1996|SHROOM3|protein_coding|CODING|NM_020859.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0266,0.0375,0.0895,0.07,0.03,0.09,,,,,,,,,,,,,,,,
synonymous_variant,SHROOM3,SILENT,NM_020859.3:p.Ser974Ser/c.2922G>A,tcG/tcA,LOW,COSM3749884(9),0.432308,0.2669,rs344142,,,,,,chr4,77662248,77662248,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser974Ser/c.2922G>A|1996|SHROOM3|protein_coding|CODING|NM_020859.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.4264,0.4827,0.6044,0.64,0.55,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SHROOM3,SILENT,NM_020859.3:p.Leu995Leu/c.2983C>T,Ctg/Ttg,LOW,COSM3749885(8),0.380591,0.2669,rs344143,,,,,,chr4,77662309,77662309,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu995Leu/c.2983C>T|1996|SHROOM3|protein_coding|CODING|NM_020859.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.3916,0.4078,0.4245,0.40,0.38,0.42,,,,,,,,,,,,,,,,
missense_variant,SHROOM3,MISSENSE,NM_020859.3:p.Val1054Leu/c.3160G>T,Gtg/Ttg,MODERATE,,0.0377396,0.005,rs71607374,0.02(D),"0.358,0.257,0.257(B,B,B)",1.975(M),-1.0195(T),,chr4,77662486,77662486,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val1054Leu/c.3160G>T|1996|SHROOM3|protein_coding|CODING|NM_020859.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0266,0.0375,0.0905,0.07,0.03,0.09,,0.817696(N),0.389(P),0.84(T),0.0087(T),0.086,2.074449,4.91,3.11,0.563000,0.432000,4.682000,0.004000,0.135000,1.000000,11.3605
missense_variant,SHROOM3,MISSENSE,NM_020859.3:p.Pro1290Leu/c.3869C>T,cCg/cTg,MODERATE,,0.529353,0.5655,rs3733242,0.44(T),0.0(B),-0.805(N),-0.9854(T),,chr4,77675505,77675505,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1290Leu/c.3869C>T|1996|SHROOM3|protein_coding|CODING|NM_020859.3|7|1),"H1ESC:H3K36me3,NH-A:H3K4me1,IMR90:H2BK120ac,IMR90:H3K9ac,GM12878:H3K27me3,HSMM:H3K27ac,IMR90:H3K14ac,IMR90:H3K56ac,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,IMR90:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K23ac,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HSMM:H3K4me1,K562:H3K27me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HMEC:H3K4me1,HUVEC:H3K4me1,HeLa-S3:H3K36me3,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:H3K27me3,IMR90:H2BK20ac,IMR90:H4K8ac",,,,0.5184,0.4438,0.3907,0.48,0.62,0.41,,0.300504(N),1.000(P),2.23(T),0.0000(T),0.018,-0.409578,5.16,-1.61,-0.269000,-0.404000,-0.675000,0.001000,0.000000,0.000000,7.4316
synonymous_variant,SOWAHB,SILENT,NM_001029870.1:p.Leu547Leu/c.1641A>G,ttA/ttG,LOW,,0.194688,0.0873,rs2703131,,,,,,chr4,77817362,77817362,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu547Leu/c.1641A>G|793|SOWAHB|protein_coding|CODING|NM_001029870.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2331,0.1844,0.2366,0.21,0.20,0.22,,,,,,,,,,,,,,,,
missense_variant,SOWAHB,MISSENSE,NM_001029870.1:p.Pro377Thr/c.1129C>A,Cct/Act,MODERATE,COSM3760754(2),0.109026,0.0853,rs2703130,0.91(T),0.086(B),0.55(N),-0.9390(T),,chr4,77817874,77817874,G,T,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro377Thr/c.1129C>A|793|SOWAHB|protein_coding|CODING|NM_001029870.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0675,0.0735,0.1521,0.14,0.13,0.14,,0.908155(U),1.000(P),3.65(T),0.0000(T),0.031,1.261385,4.08,-3.73,-0.844000,-0.779000,0.056000,0.001000,0.000000,0.004000,6.4896
synonymous_variant,SOWAHB,SILENT,NM_001029870.1:p.Thr267Thr/c.801A>G,acA/acG,LOW,COSM3749886(1),0.333466,0.2292,rs2645674,,,,,,chr4,77818202,77818202,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr267Thr/c.801A>G|793|SOWAHB|protein_coding|CODING|NM_001029870.1|1|1),"H1ESC:H3K36me3,HepG2:H3K4me2,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.2996,0.2392,0.332,0.26,0.33,0.23,,,,,,,,,,,,,,,,
missense_variant,SOWAHB,MISSENSE,NM_001029870.1:p.Asp152Gly/c.455A>G,gAc/gGc,MODERATE,COSM3749887(2),0.333866,0.2272,rs2703129,0.79(T),0.0(B),-0.69(N),-0.9888(T),,chr4,77818548,77818548,T,C,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp152Gly/c.455A>G|793|SOWAHB|protein_coding|CODING|NM_001029870.1|1|1),"H1ESC:H3K36me3,HepG2:H3K4me2,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2986,0.2392,0.332,0.20,0.25,0.18,,,1.000(P),3.7(T),0.0000(T),0.03,-0.125815,4.06,4.06,-0.186000,0.941000,0.000000,0.006000,0.003000,0.204000,10.9322
synonymous_variant,CCNG2,SILENT,NM_004354.2:p.Glu29Glu/c.87G>A,gaG/gaA,LOW,,0.071885,0.0357,rs4150052,,,,,,chr4,78079772,78079772,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu29Glu/c.87G>A|344|CCNG2|protein_coding|CODING|NM_004354.2|2|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HUVEC:H3K36me3,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HSMM:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,IMR90:H3K27ac,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0644,0.0447,0.0716,0.09,0.12,0.08,,,,,,,,,,,,,,,,
missense_variant,FRAS1,MISSENSE,NM_025074.6:p.Asp32Gly/c.95A>G,gAt/gGt,MODERATE,COSM3760764(2),0.551518,0.5407,rs4859905,1(T),"0.0,0.0(B,B)",,-0.9798(T),,chr4,78987157,78987157,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp32Gly/c.95A>G|1976|FRAS1|protein_coding|CODING|NM_001166133.1|2|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp32Gly/c.95A>G|4012|FRAS1|protein_coding|CODING|NM_025074.6|2|1)",HepG2:H3K36me3,,,,0.4888,0.4654,0.4195,0.49,0.68,0.40,,0.000924(N),0.998(P),"0.45,0.45,0.45(T,T,T)",0.0000(T),0.137,0.256325,5.9,5.9,-0.213000,1.517000,2.691000,0.989000,0.999000,1.000000,12.5489
missense_variant,FRAS1,MISSENSE,NM_025074.6:p.Leu466Ile/c.1396T>A,Tta/Ata,MODERATE,COSM4003163(1),0.321086,0.377,rs12504081,,,1.24(L),-0.9541(T),,chr4,79205699,79205699,T,A,het,"missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu466Ile/c.1396T>A|1976|FRAS1|protein_coding|CODING|NM_001166133.1|13|1),missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu466Ile/c.1396T>A|4012|FRAS1|protein_coding|CODING|NM_025074.6|13|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3425,0.4179,0.3728,0.30,0.19,0.35,,,0.722(P),,0.0000(T),.,2.290707,5.52,4.33,-0.313000,0.907000,0.955000,0.187000,0.997000,1.000000,7.3395
synonymous_variant,FRAS1,SILENT,NM_025074.6:p.His649His/c.1947T>C,caT/caC,LOW,COSM4159211(1),,,rs345514,,,,-1.0617(T),,chr4,79238649,79238649,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His649His/c.1947T>C|1976|FRAS1|protein_coding|CODING|NM_001166133.1|17|1),synonymous_variant(LOW|SILENT|caT/caC|p.His649His/c.1947T>C|4012|FRAS1|protein_coding|CODING|NM_025074.6|17|1)","H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,0.80,0.86,0.77,,,1.000(P),,0.0000(T),.,-1.505937,5.71,-4.78,-0.215000,-1.424000,-2.489000,0.004000,0.000000,0.000000,10.4255
missense_variant,FRAS1,MISSENSE,NM_025074.6:p.Asp687Gly/c.2060A>G,gAc/gGc,MODERATE,COSM4003168(1),0.434305,0.4038,rs345513,1(T),"0.0,0.0,0.0(B,B,B)",,-0.8985(T),,chr4,79240063,79240063,A,G,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp687Gly/c.2060A>G|1976|FRAS1|protein_coding|CODING|NM_001166133.1|18|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp687Gly/c.2060A>G|4012|FRAS1|protein_coding|CODING|NM_025074.6|18|1)","H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.3916,0.4539,0.3946,0.41,0.47,0.38,,0.064015(N),1.000(P),"2.18,2.58,2.33(T,T,T)",0.0000(T),0.34,-2.396851,5.71,3.96,-0.735000,0.343000,0.432000,0.000000,0.003000,0.016000,5.4424
missense_variant,FRAS1,MISSENSE,NM_025074.6:p.Ala817Val/c.2450C>T,gCa/gTa,MODERATE,COSM3760768(4),0.335463,0.2004,rs6835769,1(T),"0.002,0.001(B,B)",-0.485(N),-0.9404(T),,chr4,79284694,79284694,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala817Val/c.2450C>T|1976|FRAS1|protein_coding|CODING|NM_001166133.1|21|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala817Val/c.2450C>T|4012|FRAS1|protein_coding|CODING|NM_025074.6|21|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3722,0.5562,0.5557,0.43,0.19,0.55,,0.562672(N),1.000(P),"1.6,1.62(T,T)",0.0000(T),0.023,-1.070942,5.12,0.556,0.585000,0.138000,-0.088000,0.432000,0.001000,0.000000,8.5026
synonymous_variant,FRAS1,SILENT,NM_025074.6:p.Ser1104Ser/c.3312T>C,agT/agC,LOW,COSM1131047(2),0.0255591,0,rs35774552,,,,,,chr4,79300899,79300899,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser1104Ser/c.3312T>C|1976|FRAS1|protein_coding|CODING|NM_001166133.1|27|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser1104Ser/c.3312T>C|4012|FRAS1|protein_coding|CODING|NM_025074.6|27|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.0102,0.049,0.0805,0.08,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,FRAS1,MISSENSE,NM_025074.6:p.Glu1136Lys/c.3406G>A,Gaa/Aaa,MODERATE,COSM1131044(5),0.213259,0.2173,rs12512164,0.38(T),"0.085,0.119(B,B)",1.39(L),-1.0257(T),,chr4,79300993,79300993,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu1136Lys/c.3406G>A|1976|FRAS1|protein_coding|CODING|NM_001166133.1|27|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu1136Lys/c.3406G>A|4012|FRAS1|protein_coding|CODING|NM_025074.6|27|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.181,0.3487,0.2704,0.23,0.15,0.27,,0.012411(N),1.000(P),"-1.0,-1.0(T,T)",0.0000(T),0.144,-0.046038,5.63,3.55,0.591000,1.351000,3.882000,0.031000,0.837000,1.000000,7.925
synonymous_variant,FRAS1,SILENT,NM_025074.6:p.His2156His/c.6468C>T,caC/caT,LOW,COSM1131036(2),0.579473,0.5278,rs386611144,,,,-1.0091(T),,chr4,79372930,79372930,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His2156His/c.6468C>T|4012|FRAS1|protein_coding|CODING|NM_025074.6|46|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4826,0.7032,0.7316,0.69,0.56,0.74,,,1.000(P),,0.0000(T),.,-0.332683,5.75,-11.5,-2.309000,-2.872000,-2.351000,0.032000,0.000000,0.000000,2.8815
synonymous_variant,FRAS1,SILENT,NM_025074.6:p.Ala2337Ala/c.7011G>A,gcG/gcA,LOW,COSM3760769(2),0.297524,0.3194,rs6851427,,,,-1.0546(T),,chr4,79385719,79385719,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2337Ala/c.7011G>A|4012|FRAS1|protein_coding|CODING|NM_025074.6|49|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.317,0.4409,0.3618,0.31,0.17,0.38,,,0.000(P),,0.0000(T),.,-1.170149,5.49,-11.0,-0.137000,-3.583000,-2.249000,0.016000,0.029000,0.000000,5.2213
missense_variant,FRAS1,MISSENSE,NM_025074.6:p.Lys2378Glu/c.7132A>G,Aaa/Gaa,MODERATE,,0.967652,1,rs386429300,,,-0.83(N),-0.9279(T),,chr4,79387464,79387464,A,G,hom,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys2378Glu/c.7132A>G|4012|FRAS1|protein_coding|CODING|NM_025074.6|50|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9899,0.998,0.97,0.92,1.00,,,0.000(P),,0.0000(T),.,2.319073,5.53,5.53,-0.197000,1.494000,7.674000,0.967000,1.000000,1.000000,14.9823
synonymous_variant,FRAS1,SILENT,NM_025074.6:p.Lys2418Lys/c.7254A>G,aaA/aaG,LOW,COSM3760772(1),0.313698,0.4702,rs34840208,,,,-0.8997(T),,chr4,79387586,79387586,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys2418Lys/c.7254A>G|4012|FRAS1|protein_coding|CODING|NM_025074.6|50|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5153,0.268,0.2654,0.21,0.12,0.25,,,0.000(P),,0.0000(T),.,0.733586,4.86,2.18,0.477000,0.342000,0.354000,0.757000,0.995000,0.990000,8.6299
synonymous_variant,FRAS1,SILENT,NM_025074.6:p.Asp2813Asp/c.8439C>T,gaC/gaT,LOW,COSM3760774(2),0.291334,0.3284,rs11098194,,,,-0.9284(T),,chr4,79400868,79400868,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2813Asp/c.8439C>T|4012|FRAS1|protein_coding|CODING|NM_025074.6|56|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2761,0.4424,0.3608,0.31,0.18,0.38,,,0.000(P),,0.0000(T),.,-1.599207,5.72,0.416,-1.610000,-0.110000,1.381000,0.001000,0.996000,1.000000,11.7091
missense_variant,FRAS1,MISSENSE,NM_025074.6:p.Ile3906Thr/c.11717T>C,aTt/aCt,MODERATE,,0.00778754,0,rs61748814,0.08(T),0.079(B),1.39(L),-1.0406(T),,chr4,79461956,79461956,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile3906Thr/c.11717T>C|4012|FRAS1|protein_coding|CODING|NM_025074.6|74|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0041,0.0187,0.0219,0.01,0.00,0.02,,0.006386(N),1.000(D),0.62(T),0.0590(T),0.423,1.406606,6.17,6.17,0.533000,2.371000,6.083000,0.006000,0.291000,0.988000,16.8222
synonymous_variant,GK2,SILENT,NM_033214.2:p.Pro4Pro/c.12A>G,ccA/ccG,LOW,COSM4159223(1),0.289936,0.4593,rs6837906,,,,,,chr4,80329343,80329343,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4Pro/c.12A>G|553|GK2|protein_coding|CODING|NM_033214.2|1|1),NHEK:H3K27me3,,,,0.4693,0.3127,0.1491,0.15,0.14,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ANTXR2,SILENT,NM_001145794.1:p.Arg465Arg/c.1395G>A,cgG/cgA,LOW,,0.0445288,0.0109,rs35798108,,,,,,chr4,80898808,80898808,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg465Arg/c.1395G>A|489|ANTXR2|protein_coding|CODING|NM_001145794.1|16|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg388Arg/c.1164G>A|411|ANTXR2|protein_coding|CODING|NM_001286780.1|16|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg388Arg/c.1164G>A|411|ANTXR2|protein_coding|CODING|NM_001286781.1|16|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg465Arg/c.1395G>A|488|ANTXR2|protein_coding|CODING|NM_058172.5|16|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.0603,0.0519,0.0915,0.08,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,ANTXR2,MISSENSE,NM_001145794.1:p.Ala357Pro/c.1069G>C,Gcc/Ccc,MODERATE,COSM3760783(1),0.802716,0.9613,rs12647691,1(T),"0.0,0.0,0.0(B,B,B)",-1.355(N),-0.9735(T),,chr4,80905990,80905990,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala357Pro/c.1069G>C|489|ANTXR2|protein_coding|CODING|NM_001145794.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala280Pro/c.838G>C|411|ANTXR2|protein_coding|CODING|NM_001286780.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala280Pro/c.838G>C|411|ANTXR2|protein_coding|CODING|NM_001286781.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala357Pro/c.1069G>C|488|ANTXR2|protein_coding|CODING|NM_058172.5|13|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8436,0.8213,0.6988,0.71,0.72,0.71,,0.000000(N),0.000(P),"2.61,1.02,2.63,2.61(T,T,T,T)",0.0000(T),0.054,-2.438432,4.6,2.85,-0.878000,0.287000,2.241000,0.006000,0.024000,0.994000,6.1243
synonymous_variant,ANTXR2,SILENT,NM_001145794.1:p.Pro356Pro/c.1068C>A,ccC/ccA,LOW,,0.0461262,0.0109,rs72653288,,,,,,chr4,80905991,80905991,G,T,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro356Pro/c.1068C>A|489|ANTXR2|protein_coding|CODING|NM_001145794.1|13|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro279Pro/c.837C>A|411|ANTXR2|protein_coding|CODING|NM_001286780.1|13|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro279Pro/c.837C>A|411|ANTXR2|protein_coding|CODING|NM_001286781.1|13|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro356Pro/c.1068C>A|488|ANTXR2|protein_coding|CODING|NM_058172.5|13|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0613,0.0519,0.0915,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRDM8,SILENT,NM_001099403.1:p.Arg660Arg/c.1980G>C,cgG/cgC,LOW,COSM1431298(2),0.348442,0.626,rs12780,,,,,,chr4,81124596,81124596,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg660Arg/c.1980G>C|689|PRDM8|protein_coding|CODING|NM_001099403.1|4|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg660Arg/c.1980G>C|689|PRDM8|protein_coding|CODING|NM_020226.3|10|1)","CD4:H2AZ,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HUVEC:DNase1,IMR90:H3K36me3,GM12878:PolII,CD4:H3K4me2,IMR90:H3K4me3",,,,0.3937,0.3372,0.2724,0.23,0.17,0.25,,,,,,,,,,,,,,,,
missense_variant,C4orf22,MISSENSE,NM_001206997.1:p.Ile122Thr/c.365T>C,aTc/aCc,MODERATE,,0.956869,1,rs2867782,0.8(T),0.001(B),0(N),-0.9953(T),,chr4,81529518,81529518,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile122Thr/c.365T>C|250|C4orf22|protein_coding|CODING|NM_001206997.1|4|1),intron_variant(MODIFIER|||c.333+25181T>C|233|C4orf22|protein_coding|CODING|NM_152770.2|3|1)","IMR90:DNase1,NH-A:DNase1",,,,0.9939,0.9481,0.9274,,,,,,1.000(P),1.55(T),0.0000(T),0.051,-0.304202,4.99,0.888,-0.186000,-0.025000,-0.014000,0.456000,0.253000,0.000000,4.653
missense_variant,C4orf22,MISSENSE,NM_001206997.1:p.Val237Ile/c.709G>A,Gta/Ata,MODERATE,,0.810503,0.9435,rs1052325,0.21(T),"0.001,0.001(B,B)",-0.92(N),-1.0407(T),,chr4,81884722,81884722,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val237Ile/c.709G>A|250|C4orf22|protein_coding|CODING|NM_001206997.1|7|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val220Ile/c.658G>A|233|C4orf22|protein_coding|CODING|NM_152770.2|6|1)",,,,,0.8456,0.8487,0.837,0.78,0.67,0.83,,0.053441(N),1.000(P),"1.57,1.57(T,T)",0.0000(T),0.043,-0.183693,5.52,2.83,-0.360000,0.357000,0.716000,0.066000,0.581000,0.761000,5.7138
missense_variant,BMP3,MISSENSE,NM_001201.2:p.Leu205Phe/c.613C>T,Ctc/Ttc,MODERATE,,0.998802,1,rs6831040,0.13(T),0.012(B),1.01(L),-1.0572(T),,chr4,81967188,81967188,C,T,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu205Phe/c.613C>T|472|BMP3|protein_coding|CODING|NM_001201.2|2|1),GM12878:H3K27me3,,,,1,1,1,1.00,1.00,1.00,,0.020093(N),1.000(P),-0.18(T),0.0000(T),0.057,0.009330,5.08,-1.34,-0.834000,-0.293000,-0.011000,0.120000,0.163000,0.012000,2.8804
synonymous_variant,PRKG2,SILENT,NM_006259.2:p.Arg27Arg/c.81G>C,cgG/cgC,LOW,,0.014976,0,rs17484474,,,,,,chr4,82126121,82126121,C,G,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg27Arg/c.81G>C|733|PRKG2|protein_coding|CODING|NM_001282485.1|2|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg27Arg/c.81G>C|762|PRKG2|protein_coding|CODING|NM_006259.2|2|1)",,,,,0.0102,0.0317,0.0388,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,SCD5,MISSENSE,NM_024906.2:p.Leu246Met/c.736C>A,Ctg/Atg,MODERATE,,0.302716,0.4762,rs3733228,0.03(D),0.323(B),,-0.8826(T),,chr4,83582064,83582064,G,T,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu246Met/c.736C>A|256|SCD5|protein_coding|CODING|NM_024906.2|4|1),intron_variant(MODIFIER|||c.569+19796C>A|330|SCD5|protein_coding|CODING|NM_001037582.2|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.3067,0.487,0.2913,0.24,0.11,0.31,,,0.012(P),,0.0000(T),0.03,0.734689,3.92,3.92,0.585000,2.502000,1.546000,0.009000,0.005000,0.005000,11.7991
missense_variant,SCD5,MISSENSE,NM_024906.2:p.Glu197Gln/c.589G>C,Gaa/Caa,MODERATE,,0.608427,0.623,rs3733227,0.3(T),0.0(B),,-0.9742(T),,chr4,83582211,83582211,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu197Gln/c.589G>C|256|SCD5|protein_coding|CODING|NM_024906.2|4|1),intron_variant(MODIFIER|||c.569+19649G>C|330|SCD5|protein_coding|CODING|NM_001037582.2|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.6421,0.7435,0.6252,0.61,0.51,0.66,,,0.999(P),,0.0000(T),0.024,1.673370,3.67,3.67,-0.187000,1.153000,1.373000,0.007000,0.059000,0.280000,9.3966
synonymous_variant,SEC31A,SILENT,NM_001077207.2:p.Gly336Gly/c.1008T>A,ggT/ggA,LOW,,0.996805,1,rs2045478,,,,,,chr4,83788344,83788344,A,T,hom,"synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly336Gly/c.1008T>A|1106|SEC31A|protein_coding|CODING|NM_001077206.2|9|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly336Gly/c.1008T>A|1220|SEC31A|protein_coding|CODING|NM_001077207.2|9|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly336Gly/c.1008T>A|1205|SEC31A|protein_coding|CODING|NM_001077208.2|9|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly331Gly/c.993T>A|1200|SEC31A|protein_coding|CODING|NM_001191049.1|8|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly336Gly/c.1008T>A|1067|SEC31A|protein_coding|CODING|NM_001300744.1|9|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly336Gly/c.1008T>A|1166|SEC31A|protein_coding|CODING|NM_001300745.1|9|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly336Gly/c.1008T>A|1220|SEC31A|protein_coding|CODING|NM_014933.3|9|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly336Gly/c.1008T>A|1181|SEC31A|protein_coding|CODING|NM_016211.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SEC31A,SILENT,NM_001077207.2:p.Arg199Arg/c.597A>G,agA/agG,LOW,,0.352636,0.2629,rs10025654,,,,,,chr4,83795806,83795806,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg199Arg/c.597A>G|1106|SEC31A|protein_coding|CODING|NM_001077206.2|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg199Arg/c.597A>G|1220|SEC31A|protein_coding|CODING|NM_001077207.2|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg199Arg/c.597A>G|1205|SEC31A|protein_coding|CODING|NM_001077208.2|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg194Arg/c.582A>G|1200|SEC31A|protein_coding|CODING|NM_001191049.1|5|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg199Arg/c.597A>G|1067|SEC31A|protein_coding|CODING|NM_001300744.1|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg199Arg/c.597A>G|1166|SEC31A|protein_coding|CODING|NM_001300745.1|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg199Arg/c.597A>G|1220|SEC31A|protein_coding|CODING|NM_014933.3|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg199Arg/c.597A>G|1181|SEC31A|protein_coding|CODING|NM_016211.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3384,0.6758,0.5616,0.44,0.19,0.57,,,,,,,,,,,,,,,,
missense_variant,THAP9,MISSENSE,NM_024672.4:p.Met284Ile/c.852G>A,atG/atA,MODERATE,,0.97484,1,rs1031639,0.55(T),0.0(B),0.05(N),-1.0441(T),,chr4,83838217,83838217,G,A,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met284Ile/c.852G>A|903|THAP9|protein_coding|CODING|NM_024672.4|5|1),"H1ESC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.998,1,0.998,0.98,0.94,1.00,,0.126701(N),1.000(P),1.94(T),0.0000(T),0.087,-1.733485,3.92,-7.84,-2.616000,-2.419000,-0.696000,0.000000,0.000000,0.002000,6.3575
missense_variant,THAP9,MISSENSE,NM_024672.4:p.Leu299Phe/c.897G>T,ttG/ttT,MODERATE,,0.32528,0.2004,rs386620010,0.43(T),0.272(B),0.55(N),-0.9519(T),,chr4,83838262,83838262,G,T,hom,missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu299Phe/c.897G>T|903|THAP9|protein_coding|CODING|NM_024672.4|5|1),"H1ESC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3446,0.6484,0.5507,0.42,0.15,0.56,,0.528170(N),0.000(P),0.88(T),0.0000(T),0.194,0.557611,3.7,2.85,0.650000,1.141000,0.295000,0.224000,0.999000,0.829000,9.1917
missense_variant,THAP9,MISSENSE,NM_024672.4:p.Asn812Asp/c.2434A>G,Aat/Gat,MODERATE,,0.97484,1,rs6535411,0.87(T),0.0(B),0(N),-0.9154(T),,chr4,83839799,83839799,A,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn812Asp/c.2434A>G|903|THAP9|protein_coding|CODING|NM_024672.4|5|1),"H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.998,1,0.998,0.98,0.94,1.00,,0.006033(N),1.000(P),-2.65(D),0.0000(T),0.011,-2.928158,4.07,-3.23,-2.309000,-0.930000,-0.230000,0.001000,0.000000,0.000000,1.3718
synonymous_variant,LIN54,SILENT,NM_194282.3:p.Val267Val/c.801T>C,gtT/gtC,LOW,,0.996805,1,rs6535422,,,,,,chr4,83900043,83900043,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val46Val/c.138T>C|528|LIN54|protein_coding|CODING|NM_001115007.2|3|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val46Val/c.138T>C|528|LIN54|protein_coding|CODING|NM_001115008.2|3|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val46Val/c.138T>C|528|LIN54|protein_coding|CODING|NM_001288997.1|3|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val267Val/c.801T>C|749|LIN54|protein_coding|CODING|NM_194282.3|3|1),intron_variant(MODIFIER|||c.684+5271T>C|660|LIN54|protein_coding|CODING|NM_001288996.1|2|1),intron_variant(MODIFIER|||n.1067+5271T>C||LIN54||CODING|NR_110253.1|2|1),non_coding_exon_variant(MODIFIER|||n.521T>C||LIN54||CODING|NR_110254.1|3|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COQ2,SILENT,NM_015697.7:p.Ser330Ser/c.990C>T,agC/agT,LOW,,0.210264,0.122,rs1129617,,,,,,chr4,84188850,84188850,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser330Ser/c.990C>T|421|COQ2|protein_coding|CODING|NM_015697.7|6|1),"HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:Cfos,GM06990:H3K36me3",,RCV000116809.2|RCV000124535.1,,0.3037,0.3141,0.2465,0.22,0.11,0.27,,,,,,,,,,,,,,,,
missense_variant,HPSE,MISSENSE,NM_001098540.2:p.Lys307Arg/c.920A>G,aAg/aGg,MODERATE,COSM1131015(1),0.813299,0.87,rs11099592,0.36(T),"0.046,0.013,0.01(B,B,B)",1.5(L),-0.9875(T),,chr4,84230619,84230619,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys307Arg/c.920A>G|543|HPSE|protein_coding|CODING|NM_001098540.2|7|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys307Arg/c.920A>G|469|HPSE|protein_coding|CODING|NM_001166498.2|8|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys249Arg/c.746A>G|485|HPSE|protein_coding|CODING|NM_001199830.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys307Arg/c.920A>G|543|HPSE|protein_coding|CODING|NM_006665.5|8|1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.8303,0.6787,0.7495,0.80,0.85,0.77,,0.018663(N),1.000(P),"1.53,1.53,1.53,1.53(T,T,T,T)",0.0000(T),0.039,0.063429,4.83,4.83,0.482000,2.141000,3.927000,0.549000,1.000000,0.998000,7.8006
synonymous_variant,HELQ,SILENT,NM_133636.3:p.Ile494Ile/c.1482T>C,atT/atC,LOW,COSM3760788(1),0.507788,0.6736,rs7665103,,,,,,chr4,84364751,84364751,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile427Ile/c.1281T>C|1034|HELQ|protein_coding|CODING|NM_001297755.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile494Ile/c.1482T>C|1101|HELQ|protein_coding|CODING|NM_133636.3|6|1),5_prime_UTR_variant(MODIFIER||23|c.-23T>C|604|HELQ|protein_coding|CODING|NM_001297756.1|6|1),intron_variant(MODIFIER|||c.-69-2195T>C|557|HELQ|protein_coding|CODING|NM_001297757.1|5|1)","NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5225,0.5447,0.3787,0.42,0.44,0.41,,,,,,,,,,,,,,,,
synonymous_variant,HELQ,SILENT,NM_133636.3:p.Leu346Leu/c.1036T>C,Ttg/Ctg,LOW,COSM4159241(1),0.414537,0.6766,rs13141136,,,,,,chr4,84370091,84370091,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu346Leu/c.1036T>C|1034|HELQ|protein_coding|CODING|NM_001297755.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu346Leu/c.1036T>C|1101|HELQ|protein_coding|CODING|NM_133636.3|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||604|HELQ|protein_coding|CODING|NM_001297756.1|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||557|HELQ|protein_coding|CODING|NM_001297757.1|3|1),5_prime_UTR_variant(MODIFIER||5363|c.-469T>C|604|HELQ|protein_coding|CODING|NM_001297756.1|3|1),5_prime_UTR_variant(MODIFIER||7604|c.-499T>C|557|HELQ|protein_coding|CODING|NM_001297757.1|3|1)",,,,,0.5204,0.5245,0.3787,0.32,0.16,0.41,,,,,,,,,,,,,,,,
missense_variant,HELQ,MISSENSE,NM_133636.3:p.Val306Ile/c.916G>A,Gtt/Att,MODERATE,,0.664537,0.6776,rs1494961,0.34(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.175(N),-1.0106(T),,chr4,84374480,84374480,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val269Ile/c.805G>A|316|HELQ|protein_coding|CODING|NM_001297758.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val306Ile/c.916G>A|353|HELQ|protein_coding|CODING|NM_001297759.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val306Ile/c.916G>A|1034|HELQ|protein_coding|CODING|NM_001297755.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val306Ile/c.916G>A|1101|HELQ|protein_coding|CODING|NM_133636.3|2|1),5_prime_UTR_variant(MODIFIER||9752|c.-589G>A|604|HELQ|protein_coding|CODING|NM_001297756.1|2|1),5_prime_UTR_variant(MODIFIER||11993|c.-619G>A|557|HELQ|protein_coding|CODING|NM_001297757.1|2|1),non_coding_exon_variant(MODIFIER|||n.1234G>A||HELQ||CODING|NR_123737.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Upper_aerodigestive_tract_cancers,,,0.6268,0.6441,0.4901,0.59,0.78,0.50,,0.002702(N),1.000(P),"0.39,1.35(T,T)",0.0000(T),0.014,0.120977,5.92,2.29,-0.254000,0.166000,2.390000,0.925000,0.944000,1.000000,5.8264
missense_variant,HELQ,MISSENSE,NM_133636.3:p.Val35Glu/c.104T>A,gTg/gAg,MODERATE,,1,1,rs6831595,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.695(N),-0.9636(T),,chr4,84376743,84376743,A,T,hom,"missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val35Glu/c.104T>A|1034|HELQ|protein_coding|CODING|NM_001297755.1|1|1),missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val35Glu/c.104T>A|353|HELQ|protein_coding|CODING|NM_001297759.1|1|1),missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val35Glu/c.104T>A|1101|HELQ|protein_coding|CODING|NM_133636.3|1|1),missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val35Glu/c.104T>A|316|HELQ|protein_coding|CODING|NM_001297758.1|1|1),5_prime_UTR_variant(MODIFIER||12015|c.-1401T>A|604|HELQ|protein_coding|CODING|NM_001297756.1|1|1),5_prime_UTR_variant(MODIFIER||14256|c.-1431T>A|557|HELQ|protein_coding|CODING|NM_001297757.1|1|1),upstream_gene_variant(MODIFIER||342||114|MRPS18C|protein_coding|CODING|NM_001297767.1||1),upstream_gene_variant(MODIFIER||342||96|MRPS18C|protein_coding|CODING|NM_001297769.1||1),upstream_gene_variant(MODIFIER||342||68|MRPS18C|protein_coding|CODING|NM_001297770.1||1),upstream_gene_variant(MODIFIER||342||142|MRPS18C|protein_coding|CODING|NM_016067.3||1),non_coding_exon_variant(MODIFIER|||n.294T>A||HELQ||CODING|NR_123737.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,CD4:H4K16ac,NHEK:H3K27ac,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,CD4:H2AK9ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,CD4:H2BK12ac,H1ESC:CTCF,GM12878:H2AZ,IMR90:H4K8ac",,,,1,1,1,1.00,1.00,1.00,,0.012806(N),1.000(P),"0.53,0.16(T,T)",0.0000(T),0.091,-0.315017,5.03,-3.44,-1.211000,-0.807000,-1.041000,0.001000,0.000000,0.000000,4.0141
missense_variant,FAM175A,MISSENSE,NM_139076.2:p.Ala348Thr/c.1042G>A,Gcc/Acc,MODERATE,COSM3760790(2),0.41893,0.6756,rs12642536,0.02(D),0.436(B),1.79(L),-0.9340(T),,chr4,84383810,84383810,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala348Thr/c.1042G>A|409|FAM175A|protein_coding|CODING|NM_139076.2|9|1),downstream_gene_variant(MODIFIER||934||114|MRPS18C|protein_coding|CODING|NM_001297767.1||1),downstream_gene_variant(MODIFIER||934||96|MRPS18C|protein_coding|CODING|NM_001297769.1||1),downstream_gene_variant(MODIFIER||934||68|MRPS18C|protein_coding|CODING|NM_001297770.1||1),downstream_gene_variant(MODIFIER||934||142|MRPS18C|protein_coding|CODING|NM_016067.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5204,0.5259,0.3787,0.33,0.17,0.41,,0.026478(N),1.000(P),"0.81,0.82(T,T)",0.0000(T),0.034,3.268943,5.61,2.75,-0.293000,1.330000,0.499000,0.030000,0.139000,0.270000,10.914
synonymous_variant,PTPN13,SILENT,NM_080685.2:p.Pro1235Pro/c.3705A>G,ccA/ccG,LOW,,0.710863,0.6855,rs710832,,,,,,chr4,87684031,87684031,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1216Pro/c.3648A>G|2466|PTPN13|protein_coding|CODING|NM_006264.2|23|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1235Pro/c.3705A>G|2485|PTPN13|protein_coding|CODING|NM_080683.2|24|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1044Pro/c.3132A>G|2294|PTPN13|protein_coding|CODING|NM_080684.2|21|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1235Pro/c.3705A>G|2490|PTPN13|protein_coding|CODING|NM_080685.2|24|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5194,0.7536,0.7167,0.77,0.84,0.73,,,,,,,,,,,,,,,,
missense_variant,C4orf36,MISSENSE,NM_144645.3:p.Val83Leu/c.247G>C,Gtg/Ctg,MODERATE,COSM1131007(2),0.146965,0.1825,rs72613147,0.92(T),0.001(B),-0.345(N),-0.9782(T),,chr4,87809020,87809020,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val83Leu/c.247G>C|117|C4orf36|protein_coding|CODING|NM_144645.3|4|1),NHEK:H3K36me3,,,,0.229,0.1945,0.1759,0.13,0.04,0.18,,0.221587(N),1.000(P),"1.5,1.5,1.5(T,T,T)",0.0000(T),0.045,0.675093,5.23,0.167,-0.311000,0.137000,0.418000,0.447000,0.994000,0.888000,4.5836
missense_variant,C4orf36,MISSENSE,NM_144645.3:p.Ser36Tyr/c.107C>A,tCc/tAc,MODERATE,,0.883387,0.9127,rs1550931,1(T),0.0(B),-0.895(N),-0.9685(T),,chr4,87809387,87809387,G,T,hom,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser36Tyr/c.107C>A|117|C4orf36|protein_coding|CODING|NM_144645.3|3|1),NHEK:H3K36me3,,,,0.9223,0.9539,0.998,0.91,0.73,0.99,,0.003804(N),1.000(P),"1.66,1.66,1.66,1.66(T,T,T,T)",0.0000(T),0.305,-2.366384,5.13,2.72,-0.335000,0.107000,1.330000,0.018000,0.201000,0.915000,4.2007
missense_variant,HSD17B11,MISSENSE,NM_016245.4:p.Gln283Arg/c.848A>G,cAa/cGa,MODERATE,,0.988419,1,rs9991501,0.69(T),0.0(B),-1.245(N),-0.9721(T),,chr4,88258483,88258483,T,C,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln283Arg/c.848A>G|300|HSD17B11|protein_coding|CODING|NM_016245.4|7|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.9816,0.9928,0.9672,0.98,1.00,0.97,,0.890113(N),1.000(P),"-2.39,0.8(D,T)",0.0000(T),0.036,-2.429390,5.49,0.103,-0.971000,-0.317000,-0.128000,0.020000,0.000000,0.000000,10.1329
synonymous_variant,HSD17B11,SILENT,NM_016245.4:p.Val177Val/c.531C>T,gtC/gtT,LOW,COSM3760801(1),0.285343,0.005,rs6531985,,,,,,chr4,88293887,88293887,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val177Val/c.531C>T|300|HSD17B11|protein_coding|CODING|NM_016245.4|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.136,0.2882,0.327,0.39,0.54,0.31,,,,,,,,,,,,,,,,
synonymous_variant,SPARCL1,SILENT,NM_001128310.2:p.Asp575Asp/c.1725T>C,gaT/gaC,LOW,,0.747804,0.631,rs9933,,,,,,chr4,88401616,88401616,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp575Asp/c.1725T>C|664|SPARCL1|protein_coding|CODING|NM_001128310.2|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp450Asp/c.1350T>C|539|SPARCL1|protein_coding|CODING|NM_001291976.1|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp450Asp/c.1350T>C|539|SPARCL1|protein_coding|CODING|NM_001291977.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp575Asp/c.1725T>C|664|SPARCL1|protein_coding|CODING|NM_004684.5|9|1)",,,,,0.7832,0.7939,0.5964,0.69,0.85,0.61,,,,,,,,,,,,,,,,
missense_variant,SPARCL1,MISSENSE,NM_001128310.2:p.Thr419Ala/c.1255A>G,Acg/Gcg,MODERATE,,0.219848,0.1538,rs1130643,0.81(T),0.0(B),0.345(N),-1.0311(T),,chr4,88412806,88412806,T,C,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr419Ala/c.1255A>G|664|SPARCL1|protein_coding|CODING|NM_001128310.2|6|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr294Ala/c.880A>G|539|SPARCL1|protein_coding|CODING|NM_001291976.1|6|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr294Ala/c.880A>G|539|SPARCL1|protein_coding|CODING|NM_001291977.1|3|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr419Ala/c.1255A>G|664|SPARCL1|protein_coding|CODING|NM_004684.5|5|1)",,,,,0.0624,0.1311,0.1243,0.24,0.45,0.13,,0.459008(N),1.000(P),"-2.5,-2.5,-2.5(D,D,D)",0.0000(T),0.019,0.143962,5.18,-4.28,-0.327000,-0.779000,-0.309000,0.000000,0.000000,0.000000,1.8177
missense_variant,SPARCL1,MISSENSE,NM_001128310.2:p.His106Asp/c.316C>G,Cac/Gac,MODERATE,COSM149708(3),0.575679,0.4375,rs1049544,1(T),0.0(B),-1.1(N),-0.9619(T),,chr4,88415636,88415636,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His106Asp/c.316C>G|664|SPARCL1|protein_coding|CODING|NM_001128310.2|5|1),missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His106Asp/c.316C>G|664|SPARCL1|protein_coding|CODING|NM_004684.5|4|1),5_prime_UTR_variant(MODIFIER||60|c.-60C>G|539|SPARCL1|protein_coding|CODING|NM_001291977.1|2|1),5_prime_UTR_variant(MODIFIER||60|c.-60C>G|539|SPARCL1|protein_coding|CODING|NM_001291976.1|5|1)",,,,,0.5562,0.5043,0.3787,0.52,0.81,0.37,,0.007107(N),1.000(P),"1.05,1.05,1.05,1.05,1.05,1.05(T,T,T,T,T,T)",0.0000(T),0.164,-2.345033,5.1,4.25,-0.120000,0.820000,0.940000,0.002000,0.015000,0.001000,7.9807
missense_variant,SPARCL1,MISSENSE,NM_001128310.2:p.Ala49Asp/c.146C>A,gCt/gAt,MODERATE,COSM149709(4),0.57528,0.4375,rs13051,0.73(T),0.0(B),-0.975(N),-0.9927(T),,chr4,88416188,88416188,G,T,hom,"missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala49Asp/c.146C>A|664|SPARCL1|protein_coding|CODING|NM_001128310.2|4|1),missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala49Asp/c.146C>A|664|SPARCL1|protein_coding|CODING|NM_004684.5|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||539|SPARCL1|protein_coding|CODING|NM_001291976.1|4|1),5_prime_UTR_variant(MODIFIER||612|c.-230C>A|539|SPARCL1|protein_coding|CODING|NM_001291976.1|4|1),intron_variant(MODIFIER|||c.-141-471C>A|539|SPARCL1|protein_coding|CODING|NM_001291977.1|1|1)",,,,,0.5562,0.5029,0.3787,0.52,0.81,0.37,,0.050581(N),0.000(P),"0.95,0.95,0.95,0.95,0.95,0.95,0.95,0.77(T,T,T,T,T,T,T,T)",0.0000(T),0.23,-1.742076,4.1,3.02,-0.256000,0.458000,0.896000,0.011000,0.909000,0.942000,8.876
synonymous_variant,SPARCL1,SILENT,NM_001128310.2:p.Pro37Pro/c.111T>C,ccT/ccC,LOW,,0.751398,0.631,rs8342,,,,,,chr4,88416223,88416223,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro37Pro/c.111T>C|664|SPARCL1|protein_coding|CODING|NM_001128310.2|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro37Pro/c.111T>C|664|SPARCL1|protein_coding|CODING|NM_004684.5|3|1),5_prime_UTR_variant(MODIFIER||647|c.-265T>C|539|SPARCL1|protein_coding|CODING|NM_001291976.1|4|1),intron_variant(MODIFIER|||c.-141-506T>C|539|SPARCL1|protein_coding|CODING|NM_001291977.1|1|1)",,,,,0.7812,0.7939,0.5984,0.69,0.86,0.61,,,,,,,,,,,,,,,,
synonymous_variant,DSPP,SILENT,NM_014208.3:p.Ser299Ser/c.897A>G,tcA/tcG,LOW,COSM3760802(1),0.674321,0.7133,rs2736982,,,,,,chr4,88534235,88534235,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser299Ser/c.897A>G|1301|DSPP|protein_coding|CODING|NM_014208.3|4|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,0.6063,0.5793,0.6481,0.65,0.74,0.61,,,,,,,,,,,,,,,,
synonymous_variant,DSPP,SILENT,NM_014208.3:p.Asp670Asp/c.2010C>T,gaC/gaT,LOW,,,,,,,,,,chr4,88535824,88535824,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp670Asp/c.2010C>T|1301|DSPP|protein_coding|CODING|NM_014208.3|5|1),NHEK:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,DSPP,SILENT,NM_014208.3:p.Ser1202Ser/c.3606C>T,agC/agT,LOW,COSM3760812(2),0.658946,0.7133,rs111205185,,,,,,chr4,88537420,88537420,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser1202Ser/c.3606C>T|1301|DSPP|protein_coding|CODING|NM_014208.3|5|1),"H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.5982,0.5807,0.6441,0.64,0.69,0.61,,,,,,,,,,,,,,,,
synonymous_variant,DMP1,SILENT,NM_004407.3:p.Ser406Ser/c.1218C>T,agC/agT,LOW,COSM3760817(1),0.175719,0.2401,rs2615498,,,,,,chr4,88584148,88584148,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser390Ser/c.1170C>T|497|DMP1|protein_coding|CODING|NM_001079911.2|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser406Ser/c.1218C>T|513|DMP1|protein_coding|CODING|NM_004407.3|6|1)",HepG2:H3K27me3,,,,0.2832,0.1527,0.1968,0.15,0.07,0.19,,,,,,,,,,,,,,,,
synonymous_variant,DMP1,SILENT,NM_004407.3:p.Glu410Glu/c.1230G>A,gaG/gaA,LOW,COSM3760818(2),0.321286,0.2589,rs2615497,,,,,,chr4,88584160,88584160,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu394Glu/c.1182G>A|497|DMP1|protein_coding|CODING|NM_001079911.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu410Glu/c.1230G>A|513|DMP1|protein_coding|CODING|NM_004407.3|6|1)",HepG2:H3K27me3,,,,0.3599,0.2061,0.2366,0.28,0.40,0.22,,,,,,,,,,,,,,,,
synonymous_variant,IBSP,SILENT,NM_004967.3:p.Asn141Asn/c.423T>C,aaT/aaC,LOW,COSM1431635(1),0.742212,0.5942,rs4693878,,,,,,chr4,88732531,88732531,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn141Asn/c.423T>C|317|IBSP|protein_coding|CODING|NM_004967.3|7|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.6534,0.7305,0.7604,0.81,0.89,0.77,,,,,,,,,,,,,,,,
missense_variant,IBSP,MISSENSE,NM_004967.3:p.Gly195Glu/c.584G>A,gGa/gAa,MODERATE,COSM3760819(1),0.190495,0.1062,rs1054627,0.67(T),0.206(B),2.34(M),-0.9750(T),,chr4,88732692,88732692,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly195Glu/c.584G>A|317|IBSP|protein_coding|CODING|NM_004967.3|7|1),"HUVEC:H3K27me3,HepG2:H3K27me3",Bone_mineral_density,,,0.3057,0.2781,0.328,0.23,0.07,0.32,,0.018240(N),1.000(P),2.46(T),0.0000(T),0.061,0.096488,5.11,2.19,0.491000,1.105000,0.539000,0.155000,0.054000,0.038000,6.2398
missense_variant,IBSP,MISSENSE,NM_004967.3:p.Asp213Gly/c.638A>G,gAc/gGc,MODERATE,,0.742013,0.5942,rs13144371,0.72(T),0.0(B),-2.25(N),-1.0311(T),,chr4,88732746,88732746,A,G,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp213Gly/c.638A>G|317|IBSP|protein_coding|CODING|NM_004967.3|7|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.6534,0.7305,0.7594,0.81,0.89,0.77,,0.042236(N),1.000(P),3.16(T),0.0000(T),0.015,-0.408831,4.76,2.57,-0.642000,0.544000,-0.543000,0.066000,0.027000,0.000000,3.5959
missense_variant,IBSP,MISSENSE,NM_004967.3:p.Glu270Asp/c.810A>T,gaA/gaT,MODERATE,COSM3760822(1),0.187899,0.1062,rs1054629,0.74(T),0.207(B),2.38(M),-0.9485(T),,chr4,88732918,88732918,A,T,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu270Asp/c.810A>T|317|IBSP|protein_coding|CODING|NM_004967.3|7|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.3078,0.2752,0.329,0.23,0.06,0.32,,0.009678(N),0.998(P),2.52(T),0.0000(T),0.076,3.372643,5.36,0.073,0.482000,-0.197000,-0.256000,0.898000,0.597000,0.245000,1.9131
missense_variant,SPP1,MISSENSE,NM_001251830.1:p.Ala24Val/c.71C>T,gCc/gTc,MODERATE,,0.423922,0.3929,rs11728697,,,,,,chr4,88898941,88898941,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala24Val/c.71C>T|327|SPP1|protein_coding|CODING|NM_001251830.1|4|1),intron_variant(MODIFIER|||c.93+692C>T|300|SPP1|protein_coding|CODING|NM_000582.2|3|1),intron_variant(MODIFIER|||c.93+692C>T|314|SPP1|protein_coding|CODING|NM_001040058.1|3|1),intron_variant(MODIFIER|||c.93+692C>T|287|SPP1|protein_coding|CODING|NM_001040060.1|3|1),intron_variant(MODIFIER|||c.93+692C>T|273|SPP1|protein_coding|CODING|NM_001251829.1|3|1)",HSMM:H3K27me3,,,,0.6125,0.5159,0.5567,,,,,,,,,,,,,,,,,,,
missense_variant,ABCG2,MISSENSE,NM_004827.2:p.Asp620Asn/c.1858G>A,Gat/Aat,MODERATE,,0.00339457,0,rs34783571,0.3(T),0.057(B),1.605(L),-0.3016(T),,chr4,89013496,89013496,C,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp620Asn/c.1858G>A|655|ABCG2|protein_coding|CODING|NM_004827.2|16|1),3_prime_UTR_variant(MODIFIER||12|c.*12G>A|611|ABCG2|protein_coding|CODING|NM_001257386.1|16|1)",,,,,0.0123,0.0014,0.004,0.00,0.00,0.01,,0.018906(N),1.000(D),-2.06(D),0.4025(T),0.084,2.375421,5.25,4.4,0.467000,1.315000,4.721000,0.288000,0.910000,1.000000,15.1115
synonymous_variant,HERC5,SILENT,NM_016323.3:p.Leu786Leu/c.2358T>C,ctT/ctC,LOW,,0.999201,1,rs6857425,,,,,,chr4,89415396,89415396,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu786Leu/c.2358T>C|1024|HERC5|protein_coding|CODING|NM_016323.3|18|1),,,,,1,1,0.996,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HERC3,SILENT,NM_014606.2:p.Leu842Leu/c.2526A>G,ttA/ttG,LOW,COSM4003185(1),0.130391,0.1964,rs3737488,,,,,,chr4,89607905,89607905,A,G,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu724Leu/c.2172A>G|932|HERC3|protein_coding|CODING|NM_001271602.1|21|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu842Leu/c.2526A>G|1050|HERC3|protein_coding|CODING|NM_014606.2|22|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1084,0.1599,0.159,0.13,0.07,0.16,,,,,,,,,,,,,,,,
missense_variant,GPRIN3,MISSENSE,NM_198281.2:p.Val446Ala/c.1337T>C,gTg/gCg,MODERATE,COSM3760833(1),0.623003,0.5526,rs7653897,1(T),0.0(B),-0.205(N),-0.9902(T),,chr4,90169925,90169925,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val446Ala/c.1337T>C|776|GPRIN3|protein_coding|CODING|NM_198281.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7536,0.3545,0.5686,0.60,0.72,0.54,,0.127258(N),1.000(P),3.09(T),0.0000(T),0.005,-1.709431,5.38,-10.8,-3.542000,-5.479000,-2.239000,0.000000,0.000000,0.000000,2.4337
synonymous_variant,GRID2,SILENT,NM_001510.3:p.Gly417Gly/c.1251T>G,ggT/ggG,LOW,COSM1130993(1),0.75599,0.7331,rs1385405,,,,,,chr4,94316763,94316763,T,G,het,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly322Gly/c.966T>G|912|GRID2|protein_coding|CODING|NM_001286838.1|8|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly417Gly/c.1251T>G|1007|GRID2|protein_coding|CODING|NM_001510.3|9|1)",,,,,0.7505,0.5951,0.6272,0.73,0.92,0.63,,,,,,,,,,,,,,,,
missense_variant,SMARCAD1,MISSENSE,NM_001128429.2:p.Pro27Leu/c.80C>T,cCt/cTt,MODERATE,,,,,0.07(T),"0.981,0.991(D,D)",0.345(N),-0.9172(T),,chr4,95129625,95129625,C,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro27Leu/c.80C>T|1028|SMARCAD1|protein_coding|CODING|NM_001128429.2|2|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro27Leu/c.80C>T|1028|SMARCAD1|protein_coding|CODING|NM_001128430.1|2|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro27Leu/c.80C>T|1026|SMARCAD1|protein_coding|CODING|NM_020159.4|2|1),non_coding_exon_variant(MODIFIER|||n.288C>T||SMARCAD1||CODING|NR_045644.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:H3K4me2,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,0.091527(N),0.963(D),"0.89,0.89,0.89(T,T,T)",0.1279(T),0.162,0.493221,5.03,4.19,0.561000,1.117000,0.884000,0.720000,0.091000,0.004000,9.4551
missense_variant,SMARCAD1,MISSENSE,NM_001128429.2:p.Ser247Asn/c.740G>A,aGt/aAt,MODERATE,COSM1130990(4),0.461462,0.7024,rs11722476,0.5(T),"0.0,0.0(B,B)",0.69(N),-1.0489(T),,chr4,95170839,95170839,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser247Asn/c.740G>A|1028|SMARCAD1|protein_coding|CODING|NM_001128429.2|7|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser247Asn/c.740G>A|1028|SMARCAD1|protein_coding|CODING|NM_001128430.1|7|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser247Asn/c.740G>A|1026|SMARCAD1|protein_coding|CODING|NM_020159.4|7|1),non_coding_exon_variant(MODIFIER|||n.1066G>A||SMARCAD1||CODING|NR_045644.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5859,0.5447,0.3837,0.34,0.24,0.39,,0.526156(N),0.038(P),"3.46,3.46,3.46(T,T,T)",0.0000(T),0.008,1.020885,6.16,0.199,0.650000,0.069000,0.160000,0.998000,0.987000,0.990000,2.2078
missense_variant,SMARCAD1,MISSENSE,NM_001128429.2:p.Val301Ala/c.902T>C,gTa/gCa,MODERATE,COSM1431833(1),0.730631,0.7054,rs7439869,0.92(T),"0.0,0.0(B,B)",-1.04(N),-1.0019(T),,chr4,95173779,95173779,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val301Ala/c.902T>C|1028|SMARCAD1|protein_coding|CODING|NM_001128429.2|9|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val301Ala/c.902T>C|1028|SMARCAD1|protein_coding|CODING|NM_001128430.1|9|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val301Ala/c.902T>C|1026|SMARCAD1|protein_coding|CODING|NM_020159.4|9|1),upstream_gene_variant(MODIFIER||666||596|SMARCAD1|protein_coding|CODING|NM_001254949.1||1),non_coding_exon_variant(MODIFIER|||n.1228T>C||SMARCAD1||CODING|NR_045644.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.637,0.7089,0.5656,0.70,0.91,0.60,,0.054036(N),0.969(P),"3.85,3.85,3.85(T,T,T)",0.0000(T),0.015,-2.643181,5.25,4.4,-0.119000,0.601000,1.529000,0.325000,0.012000,0.624000,10.5674
synonymous_variant,SMARCAD1,SILENT,NM_001128429.2:p.Asp613Asp/c.1839C>T,gaC/gaT,LOW,COSM1130987(1),0.557109,0.7034,rs6823404,,,,,,chr4,95197520,95197520,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp613Asp/c.1839C>T|1028|SMARCAD1|protein_coding|CODING|NM_001128429.2|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp613Asp/c.1839C>T|1028|SMARCAD1|protein_coding|CODING|NM_001128430.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp183Asp/c.549C>T|596|SMARCAD1|protein_coding|CODING|NM_001254949.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp613Asp/c.1839C>T|1026|SMARCAD1|protein_coding|CODING|NM_020159.4|15|1),non_coding_exon_variant(MODIFIER|||n.2165C>T||SMARCAD1||CODING|NR_045644.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6268,0.6628,0.5557,0.51,0.38,0.58,,,,,,,,,,,,,,,,
synonymous_variant,PDLIM5,SILENT,NM_001256426.1:p.Gln176Gln/c.528G>A,caG/caA,LOW,COSM1130985(1),0.172524,0.1141,rs11097431,,,,-1.0735(T),,chr4,95506842,95506842,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln170Gln/c.510G>A|487|PDLIM5|protein_coding|CODING|NM_001011513.3|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln176Gln/c.528G>A|234|PDLIM5|protein_coding|CODING|NM_001011515.2|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln156Gln/c.468G>A|214|PDLIM5|protein_coding|CODING|NM_001011516.2|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln176Gln/c.528G>A|625|PDLIM5|protein_coding|CODING|NM_001256426.1|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln176Gln/c.528G>A|483|PDLIM5|protein_coding|CODING|NM_001256427.1|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln157Gln/c.471G>A|474|PDLIM5|protein_coding|CODING|NM_001256428.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln279Gln/c.837G>A|596|PDLIM5|protein_coding|CODING|NM_006457.4|6|1),5_prime_UTR_variant(MODIFIER||32368|c.-139G>A|271|PDLIM5|protein_coding|CODING|NM_001256425.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1012,0.1643,0.2038,0.23,0.26,0.21,,,0.000(P),,0.0000(T),.,1.182442,5.31,3.58,0.650000,0.719000,3.098000,0.996000,1.000000,1.000000,12.3552
synonymous_variant,PDLIM5,SILENT,NM_001256426.1:p.Ala279Ala/c.837A>G,gcA/gcG,LOW,,0.819888,0.9554,rs10017461,,,,,,chr4,95531417,95531417,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala279Ala/c.837A>G|625|PDLIM5|protein_coding|CODING|NM_001256426.1|10|1),intron_variant(MODIFIER|||c.594-7738A>G|487|PDLIM5|protein_coding|CODING|NM_001011513.3|7|1),intron_variant(MODIFIER|||c.-55-7738A>G|271|PDLIM5|protein_coding|CODING|NM_001256425.1|6|1),intron_variant(MODIFIER|||c.612-7738A>G|483|PDLIM5|protein_coding|CODING|NM_001256427.1|8|1),intron_variant(MODIFIER|||c.555-7738A>G|474|PDLIM5|protein_coding|CODING|NM_001256428.1|6|1),intron_variant(MODIFIER|||c.921-7738A>G|596|PDLIM5|protein_coding|CODING|NM_006457.4|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8998,0.9366,0.9523,,,,,,,,,,,,,,,,,,,
missense_variant,PDLIM5,MISSENSE,NM_001256426.1:p.Ala374Thr/c.1120G>A,Gct/Act,MODERATE,,0.993411,1,rs966845,1(T),"0.001,0.003,0.0,0.001(B,B,B,B)",-0.695(N),-0.9563(T),,chr4,95539267,95539267,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala236Thr/c.706G>A|487|PDLIM5|protein_coding|CODING|NM_001011513.3|8|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala20Thr/c.58G>A|271|PDLIM5|protein_coding|CODING|NM_001256425.1|7|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala374Thr/c.1120G>A|625|PDLIM5|protein_coding|CODING|NM_001256426.1|12|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala242Thr/c.724G>A|483|PDLIM5|protein_coding|CODING|NM_001256427.1|9|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala223Thr/c.667G>A|474|PDLIM5|protein_coding|CODING|NM_001256428.1|7|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala345Thr/c.1033G>A|596|PDLIM5|protein_coding|CODING|NM_006457.4|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9765,0.9942,0.995,0.99,1.00,0.99,,0.064842(N),0.960(P),"0.5,0.68,0.49,0.31,0.46(T,T,T,T,T)",0.0000(T),0.21,-1.597612,5.49,1.63,-0.352000,-0.175000,0.306000,0.031000,0.001000,0.004000,3.1475
missense_variant,PDLIM5,MISSENSE,NM_001256426.1:p.Thr410Ala/c.1228A>G,Act/Gct,MODERATE,,0.38758,0.3998,rs7690296,1(T),"0.0,0.003,0.0,0.001(B,B,B,B)",0.205(N),-1.0894(T),,chr4,95561459,95561459,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr272Ala/c.814A>G|487|PDLIM5|protein_coding|CODING|NM_001011513.3|9|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr56Ala/c.166A>G|271|PDLIM5|protein_coding|CODING|NM_001256425.1|8|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr410Ala/c.1228A>G|625|PDLIM5|protein_coding|CODING|NM_001256426.1|13|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr278Ala/c.832A>G|483|PDLIM5|protein_coding|CODING|NM_001256427.1|10|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr259Ala/c.775A>G|474|PDLIM5|protein_coding|CODING|NM_001256428.1|8|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr381Ala/c.1141A>G|596|PDLIM5|protein_coding|CODING|NM_006457.4|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6155,0.4265,0.4354,0.34,0.19,0.42,,0.121883(N),1.000(P),"0.53,0.71,0.53,0.32,0.53(T,T,T,T,T)",0.0000(T),0.118,-2.038621,5.67,-11.3,-1.004000,-3.551000,-1.359000,0.010000,0.000000,0.000000,6.2316
missense_variant,PDLIM5,MISSENSE,NM_001256426.1:p.Ser521Asn/c.1562G>A,aGt/aAt,MODERATE,,0.979633,1,rs13107595,1(T),"0.001,0.004,0.001,0.0(B,B,B,B)",-0.315(N),-0.9172(T),,chr4,95578588,95578588,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser383Asn/c.1148G>A|487|PDLIM5|protein_coding|CODING|NM_001011513.3|11|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser167Asn/c.500G>A|271|PDLIM5|protein_coding|CODING|NM_001256425.1|10|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser521Asn/c.1562G>A|625|PDLIM5|protein_coding|CODING|NM_001256426.1|15|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser389Asn/c.1166G>A|483|PDLIM5|protein_coding|CODING|NM_001256427.1|12|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser370Asn/c.1109G>A|474|PDLIM5|protein_coding|CODING|NM_001256428.1|10|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser492Asn/c.1475G>A|596|PDLIM5|protein_coding|CODING|NM_006457.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9591,0.9942,0.994,0.98,0.96,0.99,,0.000000(N),0.000(P),"-2.28,-2.28,-2.28,-2.28,-2.28(D,D,D,D,D)",0.0000(T),0.016,0.768805,5.87,4.68,-0.332000,0.474000,6.268000,0.943000,1.000000,1.000000,10.6056
synonymous_variant,UNC5C,SILENT,NM_003728.3:p.Gly838Gly/c.2514G>A,ggG/ggA,LOW,,,,rs146932015,,,,,,chr4,96091421,96091421,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly838Gly/c.2514G>A|931|UNC5C|protein_coding|CODING|NM_003728.3|15|1),,,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,UNC5C,MISSENSE,NM_003728.3:p.Met721Thr/c.2162T>C,aTg/aCg,MODERATE,,0.494609,0.5694,rs2289043,0.01(D),0.039(B),1.5(L),-0.9516(T),,chr4,96106322,96106322,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met721Thr/c.2162T>C|931|UNC5C|protein_coding|CODING|NM_003728.3|13|1),,,,,0.5532,0.7507,0.7147,0.53,0.19,0.70,,0.000001(D),0.000(P),"0.84,0.52(T,T)",0.0000(T),0.227,2.718955,5.87,4.71,0.529000,2.251000,6.106000,0.983000,1.000000,1.000000,11.4162
synonymous_variant,UNC5C,SILENT,NM_003728.3:p.Ala679Ala/c.2037G>A,gcG/gcA,LOW,,0.584265,0.3601,rs3733212,,,,,,chr4,96123981,96123981,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala679Ala/c.2037G>A|931|UNC5C|protein_coding|CODING|NM_003728.3|12|1),,,,,0.5153,0.5375,0.7167,0.70,0.71,0.69,,,,,,,,,,,,,,,,
synonymous_variant,UNC5C,SILENT,NM_003728.3:p.Pro604Pro/c.1812A>C,ccA/ccC,LOW,COSM4159313(1),0.528554,0.3601,rs2276322,,,,,,chr4,96127869,96127869,T,G,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro604Pro/c.1812A>C|931|UNC5C|protein_coding|CODING|NM_003728.3|11|1),HepG2:H3K27me3,,,,0.499,0.513,0.7068,0.63,0.54,0.67,,,,,,,,,,,,,,,,
synonymous_variant,UNC5C,SILENT,NM_003728.3:p.Thr267Thr/c.801G>A,acG/acA,LOW,,0.0231629,0,rs35120448,,,,,,chr4,96166270,96166270,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr267Thr/c.801G>A|931|UNC5C|protein_coding|CODING|NM_003728.3|6|1),,,,,0.0174,0.0346,0.0537,0.04,0.02,0.05,,,,,,,,,,,,,,,,
synonymous_variant,UNC5C,SILENT,NM_003728.3:p.Ser97Ser/c.291T>C,agT/agC,LOW,COSM4003245(2),0.478634,0.8343,rs4699423,,,,,,chr4,96256616,96256616,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser97Ser/c.291T>C|931|UNC5C|protein_coding|CODING|NM_003728.3|2|1),,,,,0.5573,0.5418,0.4573,0.36,0.18,0.46,,,,,,,,,,,,,,,,
synonymous_variant,UNC5C,SILENT,NM_003728.3:p.Pro78Pro/c.234C>T,ccC/ccT,LOW,,0.810104,1,rs1843018,,,,,,chr4,96256673,96256673,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro78Pro/c.234C>T|931|UNC5C|protein_coding|CODING|NM_003728.3|2|1),,,,,0.8937,0.8545,0.8131,0.76,0.65,0.82,,,,,,,,,,,,,,,,
synonymous_variant,STPG2,SILENT,NM_174952.2:p.Asp309Asp/c.927T>C,gaT/gaC,LOW,COSM1130976(2),0.408946,0.2431,rs783960,,,,,,chr4,98893437,98893437,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp309Asp/c.927T>C|459|STPG2|protein_coding|CODING|NM_174952.2|7|1),,,,,0.4714,0.5403,0.4742,0.43,0.36,0.47,,,,,,,,,,,,,,,,
synonymous_variant,STPG2,SILENT,NM_174952.2:p.Ser296Ser/c.888G>A,tcG/tcA,LOW,COSM149717(3),0.409345,0.2431,rs783959,,,,,,chr4,98893476,98893476,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser296Ser/c.888G>A|459|STPG2|protein_coding|CODING|NM_174952.2|7|1),,,,,0.4714,0.5403,0.4751,0.43,0.36,0.47,,,,,,,,,,,,,,,,
synonymous_variant,EIF4E,SILENT,NM_001130679.1:p.Asp125Asp/c.375C>T,gaC/gaT,LOW,COSM1130974(1),0.109425,0.001,rs62323192,,,,-1.0413(T),,chr4,99808254,99808254,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp145Asp/c.435C>T|237|EIF4E|protein_coding|CODING|NM_001130678.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp125Asp/c.375C>T|248|EIF4E|protein_coding|CODING|NM_001130679.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp125Asp/c.375C>T|217|EIF4E|protein_coding|CODING|NM_001968.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1554,0.1455,0.2734,0.21,0.05,0.29,,,0.000(P),,0.0000(T),.,1.303728,5.85,4.14,0.557000,0.823000,4.700000,0.992000,1.000000,1.000000,9.8967
missense_variant,ADH4,MISSENSE,NM_000670.3:p.Val374Ile/c.1120G>A,Gtc/Atc,MODERATE,,0.847244,0.999,rs1126673,1(T),"0.003,0.001(B,B)",-0.505(N),-0.9966(T),,chr4,100045616,100045616,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val374Ile/c.1120G>A|380|ADH4|protein_coding|CODING|NM_000670.3|9|1),splice_region_variant(LOW|||c.1120G>A|380|ADH4|protein_coding|CODING|NM_000670.3|9|1),intron_variant(MODIFIER|||n.429-9090C>T||LOC100507053||NON_CODING|NR_037884.1|1|1)","HUVEC:H3K27me3,HepG2:H3K36me3",,,,0.8804,0.7709,0.6978,0.73,0.82,0.68,,0.003142(N),0.999(P),"4.11,4.11,4.11,4.11(T,T,T,T)",0.0000(T),0.123,-1.995442,3.16,0.629,-0.294000,0.133000,0.511000,0.282000,0.985000,0.998000,3.5916
synonymous_variant,ADH4,SILENT,NM_000670.3:p.Leu351Leu/c.1051C>T,Ctg/Ttg,LOW,COSM1131320(1),0.117212,0,rs1126672,,,,,,chr4,100047812,100047812,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu351Leu/c.1051C>T|380|ADH4|protein_coding|CODING|NM_000670.3|8|1),intron_variant(MODIFIER|||n.429-6894G>A||LOC100507053||NON_CODING|NR_037884.1|1|1)",HepG2:H3K36me3,,,,0.0982,0.1729,0.2773,0.23,0.11,0.29,,,,,,,,,,,,,,,,
missense_variant,ADH4,MISSENSE,NM_000670.3:p.Ile309Val/c.925A>G,Att/Gtt,MODERATE,COSM4158708(1),0.847045,0.999,rs1126671,0.04(D),"0.0,0.0(B,B)",0.665(N),-1.0064(T),,chr4,100048414,100048414,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile309Val/c.925A>G|380|ADH4|protein_coding|CODING|NM_000670.3|7|1),intron_variant(MODIFIER|||n.429-6292T>C||LOC100507053||NON_CODING|NR_037884.1|1|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.8804,0.7709,0.6968,0.73,0.82,0.68,,0.276103(N),1.000(P),"3.34,3.34,3.34,3.34(T,T,T,T)",0.0000(T),0.014,-1.223333,3.65,-7.29,-1.417000,-2.687000,-0.757000,0.001000,0.000000,0.000000,3.7678
synonymous_variant,ADH4,SILENT,NM_000670.3:p.Pro255Pro/c.765G>T,ccG/ccT,LOW,,0.847244,0.999,rs1126670,,,,,,chr4,100052733,100052733,C,A,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro255Pro/c.765G>T|380|ADH4|protein_coding|CODING|NM_000670.3|6|1),intron_variant(MODIFIER|||n.429-1973C>A||LOC100507053||NON_CODING|NR_037884.1|1|1)",,,,,0.8804,0.7709,0.6978,0.73,0.82,0.68,,,,,,,,,,,,,,,,
synonymous_variant,ADH4,SILENT,NM_000670.3:p.Ser45Ser/c.135T>C,tcT/tcC,LOW,,0.964058,0.999,rs2032349,,,,,,chr4,100062819,100062819,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser45Ser/c.135T>C|380|ADH4|protein_coding|CODING|NM_000670.3|3|1),intron_variant(MODIFIER|||n.679+7863A>G||LOC100507053||NON_CODING|NR_037884.1|2|1)",HepG2:H3K36me3,,,,0.9785,0.9438,0.9742,0.96,0.93,0.97,,,,,,,,,,,,,,,,
missense_variant,ADH6,MISSENSE,NM_001102470.1:p.Cys2Ser/c.4T>A,Tgt/Agt,MODERATE,,1,1,rs4699735,1(T),"0.0,0.0,0.0(B,B,B)",-1.525(N),-0.9930(T),,chr4,100140306,100140306,A,T,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Agt|p.Cys2Ser/c.4T>A|368|ADH6|protein_coding|CODING|NM_000672.3|1|1),missense_variant(MODERATE|MISSENSE|Tgt/Agt|p.Cys2Ser/c.4T>A|375|ADH6|protein_coding|CODING|NM_001102470.1|1|1),intron_variant(MODIFIER|||n.3789+14718A>T||LOC100507053||NON_CODING|NR_037884.1|4|1)","HepG2:H3K4me2,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,HepG2:HNF4A,HepG2:H3K4me3,HepG2:FOXA2,HepG2:H3K9ac,HepG2:FOXA1,HepG2:DNase1,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.392051(N),1.000(P),"4.12,4.84,4.71,4.04(T,T,T,T)",0.0000(T),0.331,-2.243175,2.04,0.836,-1.400000,-0.113000,0.019000,0.006000,0.005000,0.029000,1.8446
synonymous_variant,ADH1B,SILENT,NM_000668.5:p.Ile251Ile/c.753T>C,atT/atC,LOW,,0.829673,0.9157,rs1789882,,,,,,chr4,100235053,100235053,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile251Ile/c.753T>C|375|ADH1B|protein_coding|CODING|NM_000668.5|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile211Ile/c.633T>C|335|ADH1B|protein_coding|CODING|NM_001286650.1|7|1)",IMR90:H3K36me3,,,,0.7679,0.8213,0.8559,0.81,0.76,0.83,,,,,,,,,,,,,,,,
missense_variant,ADH1B,MISSENSE,NM_000668.5:p.His48Arg/c.143A>G,cAc/cGc,MODERATE,,0.841454,0.3026,rs1229984,0.15(T),0.0(B),,-0.9979(T),,chr4,100239319,100239319,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His48Arg/c.143A>G|375|ADH1B|protein_coding|CODING|NM_000668.5|3|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His8Arg/c.23A>G|335|ADH1B|protein_coding|CODING|NM_001286650.1|4|1)","IMR90:H3K36me3,NHEK:H3K27me3","Alcohol_consumption,Alcohol_dependence,Upper_aerodigestive_tract_cancers,Esophageal_cancer",RCV000019813.1|RCV000019814.1,,0.9796,0.9424,0.9712,0.96,0.98,0.95,,0.001009(N),0.117(P),"3.8,3.52(T,T)",0.0000(T),0.022,0.445290,4.41,3.57,-0.215000,0.318000,2.012000,0.849000,0.053000,0.997000,10.5345
missense_variant,ADH1C,MISSENSE,NM_000669.4:p.Ile350Val/c.1048A>G,Att/Gtt,MODERATE,,0.214257,0.0764,rs698,,,,,,chr4,100260789,100260789,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile350Val/c.1048A>G|375|ADH1C|protein_coding|CODING|NM_000669.4|8|1),,,RCV000019811.1,,0.2761,0.2709,0.4046,0.31,0.15,0.39,,,,,,,,,,,,,,,,
missense_variant,ADH1C,MISSENSE,NM_000669.4:p.Arg272Gln/c.815G>A,cGg/cAg,MODERATE,,0.214257,0.0764,rs1693482,,,,,,chr4,100263965,100263965,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg272Gln/c.815G>A|375|ADH1C|protein_coding|CODING|NM_000669.4|6|1),,,RCV000019810.1,,0.2751,0.2709,0.4046,0.30,0.15,0.38,,,,,,,,,,,,,,,,
synonymous_variant,ADH1C,SILENT,NM_000669.4:p.Val158Val/c.474G>A,gtG/gtA,LOW,,0.214457,0.0764,rs1693425,,,,,,chr4,100266112,100266112,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val158Val/c.474G>A|375|ADH1C|protein_coding|CODING|NM_000669.4|5|1),NHEK:H3K27me3,,,,0.2761,0.2709,0.4046,0.31,0.15,0.39,,,,,,,,,,,,,,,,
synonymous_variant,ADH1C,SILENT,NM_000669.4:p.Cys104Cys/c.312T>C,tgT/tgC,LOW,,0.15016,0.0248,rs1789915,,,,,,chr4,100266371,100266371,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys104Cys/c.312T>C|375|ADH1C|protein_coding|CODING|NM_000669.4|4|1),NHEK:H3K27me3,,,,0.1738,0.1686,0.3151,0.23,0.12,0.29,,,,,,,,,,,,,,,,
stop_lost,ADH1C,MISSENSE,NM_000669.4:p.Ter78Glyext*?/c.232T>G,Tga/Gga,HIGH,,0.992812,0.999,rs283413,,,,,,chr4,100268190,100268190,A,C,hom,stop_lost(HIGH|MISSENSE|Tga/Gga|p.Ter78Glyext*?/c.232T>G|375|ADH1C|protein_coding|CODING|NM_000669.4|3|1),,,RCV000019812.1,,0.9826,0.9841,0.993,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,BANK1,MISSENSE,NM_017935.4:p.Ala383Thr/c.1147G>A,Gca/Aca,MODERATE,COSM3736329(1),0.226837,0.254,rs3733197,0.77(T),"0.856,0.608,0.608(P,P,P)",1.65(L),-1.0004(T),,chr4,102839287,102839287,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala353Thr/c.1057G>A|755|BANK1|protein_coding|CODING|NM_001083907.2|7|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala250Thr/c.748G>A|652|BANK1|protein_coding|CODING|NM_001127507.2|6|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala383Thr/c.1147G>A|785|BANK1|protein_coding|CODING|NM_017935.4|7|1)",,,,,0.183,0.219,0.3489,0.30,0.18,0.35,,0.270369(N),1.000(P),"0.62,0.62,0.62,0.62,0.62(T,T,T,T,T)",0.0000(T),0.235,0.045840,4.55,1.85,-0.126000,0.163000,0.723000,0.127000,0.056000,0.059000,4.0106
missense_variant,BANK1,MISSENSE,NM_017935.4:p.Cys650Arg/c.1948T>C,Tgt/Cgt,MODERATE,,0.996805,1,rs3113676,0.4(T),"0.0,0.0,0.0(B,B,B)",0.345(N),-1.0010(T),,chr4,102965043,102965043,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys620Arg/c.1858T>C|755|BANK1|protein_coding|CODING|NM_001083907.2|11|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys517Arg/c.1549T>C|652|BANK1|protein_coding|CODING|NM_001127507.2|10|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys650Arg/c.1948T>C|785|BANK1|protein_coding|CODING|NM_017935.4|11|1)",,,,,0.9959,0.9957,0.9911,0.99,1.00,0.99,,0.306562(N),1.000(P),"0.57,0.57,0.57,0.57,0.57(T,T,T,T,T)",0.0000(T),0.067,-2.589457,5.4,3.64,-0.320000,0.653000,0.487000,0.395000,0.009000,0.004000,6.4244
missense_variant,SLC39A8,MISSENSE,NM_001135146.1:p.Leu449Phe/c.1345C>T,Ctc/Ttc,MODERATE,,0.00479233,0,rs112519623,0.01(D),"0.759,0.835(P,P)",1.81(L),-0.8427(T),,chr4,103184239,103184239,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu449Phe/c.1345C>T|460|SLC39A8|protein_coding|CODING|NM_001135146.1|9|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu382Phe/c.1144C>T|393|SLC39A8|protein_coding|CODING|NM_001135148.1|8|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu449Phe/c.1345C>T|460|SLC39A8|protein_coding|CODING|NM_022154.5|8|1),intron_variant(MODIFIER|||c.1266+79C>T|444|SLC39A8|protein_coding|CODING|NM_001135147.1|9|1)","NHEK:CTCF,K562:CTCF,HUVEC:CTCF,HUVEC:DNase1,NH-A:DNase1,CD4:CTCF,HeLa-S3:H3K36me3,HMEC:DNase1,HepG2:Rad21,H1ESC:Rad21",,,,0,0.0086,0.0149,0.01,0.00,0.02,,0.000020(D),1.000(D),"0.62,0.62(T,T)",0.1168(T),0.263,4.440938,5.65,4.78,0.655000,2.664000,3.060000,0.945000,1.000000,1.000000,10.4039
synonymous_variant,NFKB1,SILENT,NM_003998.3:p.Ala381Ala/c.1143T>C,gcT/gcC,LOW,,0.969848,0.999,rs1609993,,,,,,chr4,103514658,103514658,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala380Ala/c.1140T>C|968|NFKB1|protein_coding|CODING|NM_001165412.1|12|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala381Ala/c.1143T>C|969|NFKB1|protein_coding|CODING|NM_003998.3|12|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9857,0.9294,0.9165,0.94,0.99,0.92,,,,,,,,,,,,,,,,
synonymous_variant,MANBA,SILENT,NM_005908.3:p.Leu790Leu/c.2368T>C,Ttg/Ctg,LOW,COSM1131313(5),0.54972,0.5198,rs2272697,,,,,,chr4,103555992,103555992,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu790Leu/c.2368T>C|879|MANBA|protein_coding|CODING|NM_005908.3|16|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081337.1,,0.4131,0.6542,0.493,0.55,0.62,0.51,,,,,,,,,,,,,,,,
missense_variant,MANBA,MISSENSE,NM_005908.3:p.Thr701Met/c.2102C>T,aCg/aTg,MODERATE,COSM1179818(2),0.549121,0.5159,rs2866413,0.11(T),"0.004,0.011(B,B)",0.46(N),-0.9468(T),,chr4,103557077,103557077,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr701Met/c.2102C>T|879|MANBA|protein_coding|CODING|NM_005908.3|15|1),"GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081336.1,,0.4131,0.6542,0.493,0.55,0.62,0.51,,0.166653(N),1.000(P),"0.36,0.36(T,T)",0.0000(T),0.043,1.083279,5.42,2.83,-0.290000,0.344000,1.802000,0.017000,0.000000,0.002000,8.7571
missense_variant,MANBA,MISSENSE,NM_005908.3:p.Val253Ile/c.757G>A,Gta/Ata,MODERATE,COSM4155100(1),0.376597,0.4732,rs227368,0.34(T),"0.003,0.003(B,B)",1.135(L),-0.9027(T),,chr4,103611845,103611845,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val253Ile/c.757G>A|879|MANBA|protein_coding|CODING|NM_005908.3|6|1),"H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.3545,0.497,0.39,0.21,0.47,,0.012434(N),1.000(P),"0.5,0.5(T,T)",0.0000(T),0.029,0.625609,4.93,1.29,-0.143000,0.016000,-0.243000,0.915000,0.007000,0.000000,8.9216
missense_variant,SLC9B1,MISSENSE,NM_139173.3:p.Gln33His/c.99G>T,caG/caT,MODERATE,,0.998403,1,rs2715591,0.55(T),"0.0,0.0(B,B)",0(N),-0.9907(T),,chr4,103911069,103911069,C,A,hom,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln33His/c.99G>T|475|SLC9B1|protein_coding|CODING|NM_001100874.2|3|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln33His/c.99G>T|515|SLC9B1|protein_coding|CODING|NM_139173.3|3|1),non_coding_exon_variant(MODIFIER|||n.241G>T||SLC9B1||CODING|NR_047513.1|3|1),non_coding_exon_variant(MODIFIER|||n.241G>T||SLC9B1||CODING|NR_047515.1|3|1)",,,,,1,0.9971,0.994,1.00,1.00,0.99,,0.039777(N),1.000(P),"2.28,2.3,2.12,0.86(T,T,T,T)",0.0000(T),0.325,-1.799536,3.99,0.0199,-1.406000,-0.227000,-0.697000,0.001000,0.000000,0.000000,6.538
missense_variant,BDH2,MISSENSE,NM_020139.3:p.Asn70Ser/c.209A>G,aAt/aGt,MODERATE,COSM3760315(1),0.158347,0.1548,rs1054707,0.59(T),0.0(B),-0.72(N),-1.0617(T),,chr4,104013796,104013796,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn70Ser/c.209A>G|245|BDH2|protein_coding|CODING|NM_020139.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.3047,0.1772,0.1501,0.13,0.07,0.16,,0.102891(N),0.999(P),"2.0,0.76,-2.23(T,T,D)",0.0008(T),0.113,0.141483,4.83,-2.62,0.459000,-0.662000,0.038000,0.327000,0.280000,0.972000,6.0507
missense_variant,CENPE,MISSENSE,NM_001813.2:p.Ser1911Thr/c.5732G>C,aGc/aCc,MODERATE,COSM3760317(3),0.210863,0.1548,rs1381657,0.19(T),"0.092,0.005(B,B)",0.255(N),-1.0991(T),,chr4,104061993,104061993,C,G,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser1886Thr/c.5657G>C|2580|CENPE|protein_coding|CODING|NM_001286734.1|35|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser1911Thr/c.5732G>C|2701|CENPE|protein_coding|CODING|NM_001813.2|36|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3333,0.2176,0.1799,0.18,0.18,0.18,,,1.000(P),"-0.65,-0.65(T,T)",0.0001(T),0.021,-0.460761,5.21,-1.34,-0.334000,-0.150000,-0.757000,0.003000,0.000000,0.000000,9.7662
synonymous_variant,CENPE,SILENT,NM_001813.2:p.Thr1834Thr/c.5502G>A,acG/acA,LOW,COSM4158729(1),0.169129,0.1548,rs1381658,,,,,,chr4,104062223,104062223,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr1809Thr/c.5427G>A|2580|CENPE|protein_coding|CODING|NM_001286734.1|35|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1834Thr/c.5502G>A|2701|CENPE|protein_coding|CODING|NM_001813.2|36|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3292,0.1916,0.1779,0.14,0.06,0.18,,,,,,,,,,,,,,,,
synonymous_variant,CENPE,SILENT,NM_001813.2:p.Gln675Gln/c.2025G>A,caG/caA,LOW,,0.45008,0.3006,rs2251634,,,,,,chr4,104082349,104082349,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln650Gln/c.1950G>A|2580|CENPE|protein_coding|CODING|NM_001286734.1|19|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln675Gln/c.2025G>A|2701|CENPE|protein_coding|CODING|NM_001813.2|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4141,0.353,0.4076,0.46,0.59,0.39,,,,,,,,,,,,,,,,
missense_variant,TET2,MISSENSE,NM_001127208.2:p.Ile1762Val/c.5284A>G,Ata/Gta,MODERATE,COSM3760322(5),0.230431,0.1895,rs2454206,0.58(T),"0.001,0.026(B,B)",1.355(L),-0.9044(T),,chr4,106196951,106196951,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|NM_001127208.2|11|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3149,0.2795,0.3718,0.29,0.09,0.37,,,1.000(P),"4.53,4.53,4.53(T,T,T)",0.0000(T),0.052,0.960733,5.16,-10.3,-0.456000,-1.622000,-0.301000,0.738000,0.000000,0.000000,3.9686
missense_variant,PPA2,MISSENSE,NM_176869.2:p.Lys282Asn/c.846G>C,aaG/aaC,MODERATE,,0.432708,0.6766,rs13787,0.14(T),"0.198,0.05,0.049,0.011,0.011(B,B,B,B,B)",2.22(M),-0.9635(T),,chr4,106317429,106317429,C,G,hom,"missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys253Asn/c.759G>C|305|PPA2|protein_coding|CODING|NM_006903.4|8|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys180Asn/c.540G>C|232|PPA2|protein_coding|CODING|NM_176866.2|5|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys116Asn/c.348G>C|168|PPA2|protein_coding|CODING|NM_176867.3|3|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys282Asn/c.846G>C|334|PPA2|protein_coding|CODING|NM_176869.2|9|1)",,,,,0.5603,0.5086,0.4592,0.35,0.13,0.46,,0.000321(D),0.000(P),"0.81,0.81,0.81,0.81,0.81,0.81(T,T,T,T,T,T)",0.0000(T),0.132,1.763782,5.93,0.105,-0.181000,-0.083000,-0.843000,0.987000,0.742000,0.000000,6.7286
synonymous_variant,PPA2,SILENT,NM_176869.2:p.Arg9Arg/c.27C>T,cgC/cgT,LOW,COSM3760324(2),0.0810703,0.001,rs4699179,,,,-1.0369(T),,chr4,106395181,106395181,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg9Arg/c.27C>T|305|PPA2|protein_coding|CODING|NM_006903.4|1|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg9Arg/c.27C>T|232|PPA2|protein_coding|CODING|NM_176866.2|1|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg9Arg/c.27C>T|168|PPA2|protein_coding|CODING|NM_176867.3|1|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg9Arg/c.27C>T|334|PPA2|protein_coding|CODING|NM_176869.2|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,GM12878:Pax5,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.0583,0.1628,0.2167,0.16,0.04,0.22,,,1.000(P),,0.0000(T),.,-0.544344,2.93,2.09,0.557000,0.817000,0.839000,0.017000,0.010000,0.669000,5.9932
synonymous_variant,ARHGEF38,SILENT,NM_001242729.1:p.Thr58Thr/c.174T>C,acT/acC,LOW,,0.9998,1,rs6533206,,,,,,chr4,106474096,106474096,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr58Thr/c.174T>C|777|ARHGEF38|protein_coding|CODING|NM_001242729.1|1|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr58Thr/c.174T>C|219|ARHGEF38|protein_coding|CODING|NM_017700.1|1|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,1,1,0.999,,,,,,,,,,,,,,,,,,,
missense_variant,NPNT,MISSENSE,NM_001184691.1:p.Gln189His/c.567G>C,caG/caC,MODERATE,COSM4002891(1),0.324681,0.1825,rs35132891,,,2.015(M),-1.1481(T),,chr4,106859549,106859549,G,C,hom,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln159His/c.477G>C|565|NPNT|protein_coding|CODING|NM_001033047.2|5|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln176His/c.528G>C|582|NPNT|protein_coding|CODING|NM_001184690.1|6|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln189His/c.567G>C|595|NPNT|protein_coding|CODING|NM_001184691.1|6|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln159His/c.477G>C|536|NPNT|protein_coding|CODING|NM_001184692.1|5|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln189His/c.567G>C|566|NPNT|protein_coding|CODING|NM_001184693.1|6|1)",HMEC:H3K27me3,,,,0.272,0.3329,0.334,0.35,0.41,0.33,,,0.032(P),,0.0000(T),.,3.344923,5.22,3.49,-0.122000,0.698000,3.803000,0.935000,0.992000,1.000000,8.6958
missense_variant,NPNT,MISSENSE,NM_001184691.1:p.Ile264Val/c.790A>G,Ata/Gta,MODERATE,,0.889377,1,rs4340795,,,0.79(N),-0.9560(T),,chr4,106861730,106861730,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile234Val/c.700A>G|565|NPNT|protein_coding|CODING|NM_001033047.2|7|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile251Val/c.751A>G|582|NPNT|protein_coding|CODING|NM_001184690.1|8|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile264Val/c.790A>G|595|NPNT|protein_coding|CODING|NM_001184691.1|8|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile234Val/c.700A>G|536|NPNT|protein_coding|CODING|NM_001184692.1|7|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile264Val/c.790A>G|566|NPNT|protein_coding|CODING|NM_001184693.1|8|1)",GM06990:H3K36me3,,,,0.9591,0.9179,0.9175,0.85,0.73,0.91,,,1.000(P),,0.0000(T),.,0.165030,5.29,-9.72,-0.408000,-2.809000,0.593000,0.123000,0.000000,0.925000,10.1038
synonymous_variant,TBCK,SILENT,NM_001163435.2:p.Gly616Gly/c.1848T>C,ggT/ggC,LOW,COSM447201(3),0.213059,0.1468,rs17036613,,,,,,chr4,107133919,107133919,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly616Gly/c.1848T>C|893|TBCK|protein_coding|CODING|NM_001163435.2|20|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly616Gly/c.1848T>C|893|TBCK|protein_coding|CODING|NM_001163436.2|20|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly577Gly/c.1731T>C|854|TBCK|protein_coding|CODING|NM_001163437.2|20|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly444Gly/c.1332T>C|721|TBCK|protein_coding|CODING|NM_001290768.1|21|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly553Gly/c.1659T>C|830|TBCK|protein_coding|CODING|NM_033115.4|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.2771,0.134,0.1799,0.21,0.27,0.17,,,,,,,,,,,,,,,,
missense_variant,TBCK,MISSENSE,NM_001163435.2:p.Met471Ile/c.1413G>A,atG/atA,MODERATE,COSM4002892(1),0.136581,0.1468,rs34961213,0.04(D),"0.001,0.007,0.009(B,B,B)",0.6(N),-0.9306(T),,chr4,107156462,107156462,C,T,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met471Ile/c.1413G>A|893|TBCK|protein_coding|CODING|NM_001163435.2|15|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met471Ile/c.1413G>A|893|TBCK|protein_coding|CODING|NM_001163436.2|15|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met432Ile/c.1296G>A|854|TBCK|protein_coding|CODING|NM_001163437.2|15|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met299Ile/c.897G>A|721|TBCK|protein_coding|CODING|NM_001290768.1|16|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met408Ile/c.1224G>A|830|TBCK|protein_coding|CODING|NM_033115.4|13|1)","HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.271,0.1167,0.1789,0.13,0.03,0.17,,0.000023(D),0.014(P),"2.97,2.97,2.97,2.97,2.97,2.97(T,T,T,T,T,T)",0.0001(T),0.392,3.007829,5.9,5.9,0.650000,2.788000,1.989000,0.980000,0.995000,1.000000,20.2789
missense_variant,TBCK,MISSENSE,NM_001163435.2:p.Gln266Glu/c.796C>G,Caa/Gaa,MODERATE,,0.992013,0.9683,rs3775091,1(T),"0.001,0.0,0.0(B,B,B)",-0.08(N),-0.9335(T),,chr4,107168431,107168431,G,C,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln266Glu/c.796C>G|893|TBCK|protein_coding|CODING|NM_001163435.2|10|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln266Glu/c.796C>G|893|TBCK|protein_coding|CODING|NM_001163436.2|10|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln227Glu/c.679C>G|854|TBCK|protein_coding|CODING|NM_001163437.2|10|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln94Glu/c.280C>G|721|TBCK|protein_coding|CODING|NM_001290768.1|11|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln203Glu/c.607C>G|830|TBCK|protein_coding|CODING|NM_033115.4|8|1)","NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,1,0.9885,1,1.00,1.00,1.00,,0.000093(N),1.000(P),"3.02,3.02,3.02,3.02,3.02(T,T,T,T,T)",0.0000(T),0.355,-1.020614,5.59,4.74,-0.215000,0.732000,2.660000,0.539000,0.056000,0.981000,10.671
missense_variant,GIMD1,MISSENSE,NM_001195138.1:p.Val182Ile/c.544G>A,Gtt/Att,MODERATE,,0.161342,0.1468,rs7654865,,,,,,chr4,107279450,107279450,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val182Ile/c.544G>A|217|GIMD1|protein_coding|CODING|NM_001195138.1|2|1),,,,,0.2771,0.1196,0.1769,,,,,,,,,,,,,,,,,,,
missense_variant,GIMD1,MISSENSE,NM_001195138.1:p.Lys171Ile/c.512A>T,aAa/aTa,MODERATE,,0.170327,0.1468,rs12645490,,,,,,chr4,107279482,107279482,T,A,het,missense_variant(MODERATE|MISSENSE|aAa/aTa|p.Lys171Ile/c.512A>T|217|GIMD1|protein_coding|CODING|NM_001195138.1|2|1),,,,,0.2771,0.1254,0.1769,,,,,,,,,,,,,,,,,,,
synonymous_variant,PAPSS1,SILENT,NM_005443.4:p.Lys12Lys/c.36A>G,aaA/aaG,LOW,,0.881989,0.8819,rs973126,,,,,,chr4,108641300,108641300,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys12Lys/c.36A>G|624|PAPSS1|protein_coding|CODING|NM_005443.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.9622,0.8977,0.8996,0.87,0.79,0.91,,,,,,,,,,,,,,,,
synonymous_variant,PAPSS1,SILENT,NM_005443.4:p.Leu7Leu/c.19C>T,Ctg/Ttg,LOW,COSM4002895(4),0.464257,0.3988,rs1127006,,,,,,chr4,108641317,108641317,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu7Leu/c.19C>T|624|PAPSS1|protein_coding|CODING|NM_005443.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.6789,0.4971,0.6044,0.49,0.29,0.60,,,,,,,,,,,,,,,,
missense_variant,HADH,MISSENSE,NM_001184705.2:p.Leu86Pro/c.257T>C,cTt/cCt,MODERATE,,0.86901,0.9762,rs4956145,1(T),"0.0,0.0,0.0(B,B,B)",-0.77(N),-0.9320(T),,chr4,108931039,108931039,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu86Pro/c.257T>C|331|HADH|protein_coding|CODING|NM_001184705.2|2|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu86Pro/c.257T>C|314|HADH|protein_coding|CODING|NM_005327.4|2|1)","HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9213,0.951,0.9215,0.85,0.70,0.92,,0.000000(N),0.001(P),"-1.07,-1.07,-1.07(T,T,T)",0.0000(T),0.199,1.101163,5.18,4.34,-0.119000,0.686000,4.801000,0.714000,0.368000,1.000000,12.0436
missense_variant,ETNPPL,MISSENSE,NM_031279.3:p.Ser185Pro/c.553T>C,Tca/Cca,MODERATE,COSM4002896(1),0.265375,0.498,rs1377210,,"0.0,0.0,0.0(B,B,B)",-1.305(N),-0.9687(T),,chr4,109674116,109674116,A,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser179Pro/c.535T>C|493|ETNPPL|protein_coding|CODING|NM_001146590.1|6|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser127Pro/c.379T>C|441|ETNPPL|protein_coding|CODING|NM_001146627.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser185Pro/c.553T>C|499|ETNPPL|protein_coding|CODING|NM_031279.3|6|1),non_coding_exon_variant(MODIFIER|||n.756T>C||ETNPPL||CODING|NR_027474.1|6|1),non_coding_exon_variant(MODIFIER|||n.615T>C||ETNPPL||CODING|NR_027475.1|5|1)","NHEK:H3K27me3,HSMM:H3K27me3",,,,0.2526,0.1499,0.0805,0.15,0.27,0.09,,0.000000(N),0.997(P),"-2.16,-2.16,-2.16,-2.16(D,D,D,D)",0.0000(T),0.052,-0.742376,5.46,4.61,-0.119000,0.665000,4.751000,0.203000,0.761000,1.000000,10.6615
missense_variant,CCDC109B,MISSENSE,NM_017918.4:p.Ile63Asn/c.188T>A,aTt/aAt,MODERATE,COSM3760330(1),0.294928,0.4802,rs4698744,0.59(T),"0.001,0.0(B,B)",-0.625(N),-0.9713(T),,chr4,110581363,110581363,T,A,het,missense_variant(MODERATE|MISSENSE|aTt/aAt|p.Ile63Asn/c.188T>A|336|CCDC109B|protein_coding|CODING|NM_017918.4|3|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2342,0.3804,0.3201,0.26,0.14,0.31,,0.758169(N),1.000(P),"0.9,0.9(T,T)",0.0000(T),0.022,0.421491,5.28,-7.51,-1.099000,-2.463000,0.094000,0.820000,0.000000,0.126000,5.0765
synonymous_variant,CCDC109B,SILENT,NM_017918.4:p.Ser166Ser/c.498T>C,tcT/tcC,LOW,COSM4002900(1),0.694289,0.5179,rs3733611,,,,,,chr4,110603784,110603784,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser166Ser/c.498T>C|336|CCDC109B|protein_coding|CODING|NM_017918.4|5|1),NHEK:H3K36me3,,,,0.7505,0.6153,0.6551,0.72,0.82,0.66,,,,,,,,,,,,,,,,
missense_variant,CCDC109B,MISSENSE,NM_017918.4:p.Asp246Asn/c.736G>A,Gat/Aat,MODERATE,,,,,0.07(T),1.0(D),3.445(M),0.1575(D),,chr4,110605722,110605722,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp246Asn/c.736G>A|336|CCDC109B|protein_coding|CODING|NM_017918.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),0.27(T),0.5165(D),0.386,5.593194,5.57,5.57,0.591000,2.602000,9.860000,0.998000,1.000000,1.000000,19.5583
synonymous_variant,PLA2G12A,SILENT,NM_030821.4:p.Glu115Glu/c.345G>A,gaG/gaA,LOW,COSM4002903(1),0.252396,0.2014,rs2285714,,,,,,chr4,110638810,110638810,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu115Glu/c.345G>A|189|PLA2G12A|protein_coding|CODING|NM_030821.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Age_related_macular_degeneration,,,0.3865,0.3703,0.3926,0.31,0.08,0.43,,,,,,,,,,,,,,,,
missense_variant,CFI,MISSENSE,NM_000204.3:p.Thr300Ala/c.898A>G,Act/Gct,MODERATE,,0.966853,1,rs11098044,0.93(T),"0.0,0.0(B,B)",0(N),-0.9018(T),,chr4,110678925,110678925,T,C,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr300Ala/c.898A>G|583|CFI|protein_coding|CODING|NM_000204.3|7|1),HepG2:H3K36me3,,,,1,0.9928,1,0.96,0.89,1.00,,0.069232(N),1.000(P),"-2.53,-2.6(D,D)",0.0000(T),0.023,-1.423993,3.32,1.53,-1.078000,0.070000,-0.253000,0.002000,0.007000,0.000000,2.976
synonymous_variant,GAR1,SILENT,NM_018983.3:p.Gly23Gly/c.69T>C,ggT/ggC,LOW,COSM1131305(4),0.771166,0.9157,rs2276326,,,,,,chr4,110737389,110737389,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly23Gly/c.69T>C|217|GAR1|protein_coding|CODING|NM_018983.3|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly23Gly/c.69T>C|217|GAR1|protein_coding|CODING|NM_032993.2|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.8323,0.585,0.7505,0.73,0.71,0.74,,,,,,,,,,,,,,,,
missense_variant,LRIT3,MISSENSE,NM_198506.4:p.Ser175Asn/c.524G>A,aGc/aAc,MODERATE,COSM4158747(1),0.471845,0.4901,rs4698797,0.57(T),0.817(P),0.22(N),-1.0038(T),,chr4,110773067,110773067,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser175Asn/c.524G>A|679|LRIT3|protein_coding|CODING|NM_198506.4|2|1),HUVEC:H3K27me3,,,,0.4325,0.3948,0.6382,0.59,0.45,0.65,,0.000005(D),0.000(P),0.5(T),0.0000(T),0.033,3.047368,5.61,3.78,0.655000,2.793000,5.263000,0.912000,1.000000,1.000000,8.2395
missense_variant,LRIT3,MISSENSE,NM_198506.4:p.Met336Leu/c.1006A>T,Atg/Ttg,MODERATE,COSM3927812(4),0.469649,0.4901,rs764205,0.3(T),"0.097,0.02(B,B)",0.945(L),-0.9184(T),,chr4,110790911,110790911,A,T,het,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met336Leu/c.1006A>T|679|LRIT3|protein_coding|CODING|NM_198506.4|4|1),"CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4325,0.3963,0.6392,0.57,0.43,0.65,,0.515666(N),1.000(P),"-0.2,-0.2,-0.2(T,T,T)",0.0000(T),0.157,2.144734,5.53,3.12,0.533000,0.404000,2.364000,0.992000,0.330000,0.257000,8.1285
missense_variant,LRIT3,MISSENSE,NM_198506.4:p.Ala486Thr/c.1456G>A,Gca/Aca,MODERATE,COSM3760334(1),0.248602,0.2728,rs2347131,0.7(T),"0.0,0.0(B,B)",-1.5(N),-0.9837(T),,chr4,110791361,110791361,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala486Thr/c.1456G>A|679|LRIT3|protein_coding|CODING|NM_198506.4|4|1),"HSMM:DNase1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2055,0.3804,0.1481,0.17,0.24,0.14,,0.022224(N),1.000(P),"0.48,0.65,0.48(T,T,T)",0.0000(T),0.034,-1.888198,5.06,3.9,-0.254000,0.772000,1.201000,0.168000,0.428000,0.016000,4.6429
missense_variant,LRIT3,MISSENSE,NM_198506.4:p.Thr503Met/c.1508C>T,aCg/aTg,MODERATE,COSM3760336(1),0.258986,0.3224,rs2347132,0.2(T),"0.001,0.005(B,B)",0.55(N),-1.0147(T),,chr4,110791413,110791413,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr503Met/c.1508C>T|679|LRIT3|protein_coding|CODING|NM_198506.4|4|1),"HSMM:DNase1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2065,0.3804,0.1481,0.17,0.24,0.14,,0.325797(N),1.000(P),"1.41,1.41,1.41(T,T,T)",0.0000(T),0.111,-0.378282,5.06,-10.1,-1.876000,-3.046000,-0.356000,0.281000,0.000000,0.000000,10.6999
synonymous_variant,LRIT3,SILENT,NM_198506.4:p.Pro546Pro/c.1638C>T,ccC/ccT,LOW,,0.248802,0.2728,rs2347133,,,,,,chr4,110791543,110791543,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro546Pro/c.1638C>T|679|LRIT3|protein_coding|CODING|NM_198506.4|4|1),"HSMM:DNase1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2055,0.3804,0.1481,0.17,0.24,0.14,,,,,,,,,,,,,,,,
synonymous_variant,EGF,SILENT,NM_001963.4:p.Glu460Glu/c.1380A>G,gaA/gaG,LOW,,0.00439297,0,rs11568953,,,,,,chr4,110884396,110884396,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu460Glu/c.1380A>G|1166|EGF|protein_coding|CODING|NM_001178130.1|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu418Glu/c.1254A>G|1165|EGF|protein_coding|CODING|NM_001178131.1|8|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu460Glu/c.1380A>G|1207|EGF|protein_coding|CODING|NM_001963.4|9|1)",,,,,0,0.0043,0.0169,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,EGF,SILENT,NM_001963.4:p.Cys659Cys/c.1977C>T,tgC/tgT,LOW,COSM4091185(1),0.0319489,0,rs11568993,,,,,,chr4,110897315,110897315,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys659Cys/c.1977C>T|1166|EGF|protein_coding|CODING|NM_001178130.1|13|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys617Cys/c.1851C>T|1165|EGF|protein_coding|CODING|NM_001178131.1|12|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys659Cys/c.1977C>T|1207|EGF|protein_coding|CODING|NM_001963.4|13|1)",,,,,0.0164,0.0476,0.1034,0.06,0.01,0.08,,,,,,,,,,,,,,,,
missense_variant,EGF,MISSENSE,NM_001963.4:p.Met708Ile/c.2124G>A,atG/atA,MODERATE,COSM3760339(1),0.617812,0.6726,rs2237051,0.46(T),"0.0,0.0,0.0(B,B,B)",-1.425(N),-0.9441(T),,chr4,110901198,110901198,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met708Ile/c.2124G>A|1166|EGF|protein_coding|CODING|NM_001178130.1|14|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met666Ile/c.1998G>A|1165|EGF|protein_coding|CODING|NM_001178131.1|13|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met708Ile/c.2124G>A|1207|EGF|protein_coding|CODING|NM_001963.4|14|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3",,,,0.5041,0.5764,0.3628,0.53,0.81,0.38,,0.001539(N),1.000(P),"-2.71,-2.71,-2.71(D,D,D)",0.0000(T),0.086,-0.767643,5.56,1.54,-1.061000,-0.200000,-0.107000,0.771000,0.927000,0.008000,1.6533
missense_variant,EGF,MISSENSE,NM_001963.4:p.Glu920Val/c.2759A>T,gAg/gTg,MODERATE,COSM1426371(1),0.920527,1,rs4698803,0.44(T),"0.0,0.0(B,B)",0.305(N),-0.9024(T),,chr4,110914427,110914427,A,T,het,"missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu878Val/c.2633A>T|1165|EGF|protein_coding|CODING|NM_001178131.1|18|1),missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu920Val/c.2759A>T|1207|EGF|protein_coding|CODING|NM_001963.4|19|1),intron_variant(MODIFIER|||c.2735-1462A>T|1166|EGF|protein_coding|CODING|NM_001178130.1|18|1)",HUVEC:H3K27me3,,,,0.8824,0.9121,0.7992,0.85,0.96,0.79,,0.066002(N),1.000(P),"2.01,-3.79(T,D)",0.0000(T),0.038,-2.317280,5.0,1.32,-1.091000,-0.129000,-1.915000,0.099000,0.000000,0.000000,3.2431
missense_variant,C4orf32,MISSENSE,NM_152400.2:p.Gly32Glu/c.95G>A,gGg/gAg,MODERATE,COSM3749849(4),0.999201,1,rs10002700,1(T),0.0(B),-1.39(N),-0.9902(T),,chr4,113066831,113066831,G,A,hom,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly32Glu/c.95G>A|132|C4orf32|protein_coding|CODING|NM_152400.2|1|1),"K562:ZBTB7A,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,1,0.996,1.00,1.00,1.00,,0.329768(N),1.000(P),0.97(T),0.0000(T),0.096,-1.569980,3.18,2.02,-0.893000,0.414000,0.688000,0.008000,0.070000,0.547000,4.6216
missense_variant,ALPK1,MISSENSE,NM_001102406.1:p.Asn175Asp/c.523A>G,Aat/Gat,MODERATE,COSM3736330(3),0.0507188,0.002,rs6533616,0.17(T),"0.009,0.003(B,B)",0.975(L),-1.0712(T),,chr4,113345147,113345147,A,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn175Asp/c.523A>G|1244|ALPK1|protein_coding|CODING|NM_001102406.1|6|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn97Asp/c.289A>G|1166|ALPK1|protein_coding|CODING|NM_001253884.1|5|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn175Asp/c.523A>G|1244|ALPK1|protein_coding|CODING|NM_025144.3|6|1)",,,,,0.0184,0.0677,0.1163,0.10,0.07,0.11,,0.009252(N),0.983(P),"1.55,1.55,1.55(T,T,T)",0.0008(T),0.163,1.821169,5.62,3.16,0.524000,0.414000,1.242000,0.980000,0.613000,0.478000,5.5579
missense_variant,ALPK1,MISSENSE,NM_001102406.1:p.Gly565Asp/c.1694G>A,gGt/gAt,MODERATE,,0.627396,0.6369,rs2074388,0.29(T),"0.801,0.638(P,P)",1.995(M),-1.0972(T),,chr4,113352397,113352397,G,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly565Asp/c.1694G>A|1244|ALPK1|protein_coding|CODING|NM_001102406.1|11|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly487Asp/c.1460G>A|1166|ALPK1|protein_coding|CODING|NM_001253884.1|10|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly565Asp/c.1694G>A|1244|ALPK1|protein_coding|CODING|NM_025144.3|11|1)","H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.547,0.5576,0.6173,0.65,0.70,0.63,,0.423936(N),1.000(P),"4.38,4.38,4.31(T,T,T)",0.0000(T),0.474,2.279331,4.61,1.76,0.655000,0.195000,0.724000,0.017000,0.001000,0.004000,7.7266
missense_variant,ALPK1,MISSENSE,NM_001102406.1:p.His642Arg/c.1925A>G,cAt/cGt,MODERATE,,0.658546,0.7014,rs13148353,0.44(T),"0.0,0.0(B,B)",0(N),-1.0936(T),,chr4,113352628,113352628,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His642Arg/c.1925A>G|1244|ALPK1|protein_coding|CODING|NM_001102406.1|11|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His564Arg/c.1691A>G|1166|ALPK1|protein_coding|CODING|NM_001253884.1|10|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His642Arg/c.1925A>G|1244|ALPK1|protein_coding|CODING|NM_025144.3|11|1)","H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.5807,0.6511,0.68,0.73,0.66,,0.007528(N),1.000(P),"4.41,4.41,4.34(T,T,T)",0.0000(T),0.016,0.880768,5.2,2.53,-0.726000,-0.030000,0.246000,0.003000,0.006000,0.002000,3.9921
missense_variant,ALPK1,MISSENSE,NM_001102406.1:p.Met732Ile/c.2196G>A,atG/atA,MODERATE,,0.626797,0.6359,rs2074379,0.92(T),"0.002,0.001(B,B)",0.29(N),-1.0568(T),,chr4,113352899,113352899,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met732Ile/c.2196G>A|1244|ALPK1|protein_coding|CODING|NM_001102406.1|11|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met654Ile/c.1962G>A|1166|ALPK1|protein_coding|CODING|NM_001253884.1|10|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met732Ile/c.2196G>A|1244|ALPK1|protein_coding|CODING|NM_025144.3|11|1)","H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.547,0.5576,0.6173,0.65,0.70,0.63,,0.769236(N),1.000(P),"4.48,4.48,4.41(T,T,T)",0.0000(T),0.065,0.382466,5.22,3.31,0.655000,1.141000,0.648000,0.023000,0.002000,0.005000,10.9258
synonymous_variant,ALPK1,SILENT,NM_001102406.1:p.Ser783Ser/c.2349C>T,tcC/tcT,LOW,COSM3760341(1),0.0493211,0.001,rs17044681,,,,,,chr4,113353052,113353052,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser783Ser/c.2349C>T|1244|ALPK1|protein_coding|CODING|NM_001102406.1|11|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser705Ser/c.2115C>T|1166|ALPK1|protein_coding|CODING|NM_001253884.1|10|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser783Ser/c.2349C>T|1244|ALPK1|protein_coding|CODING|NM_025144.3|11|1)","H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.0174,0.0749,0.1501,0.10,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,ALPK1,MISSENSE,NM_001102406.1:p.Met861Thr/c.2582T>C,aTg/aCg,MODERATE,COSM4158751(1),0.658546,0.7014,rs11726117,1(T),"0.0,0.0(B,B)",-1.78(N),-1.0474(T),,chr4,113353285,113353285,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met861Thr/c.2582T>C|1244|ALPK1|protein_coding|CODING|NM_001102406.1|11|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met783Thr/c.2348T>C|1166|ALPK1|protein_coding|CODING|NM_001253884.1|10|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met861Thr/c.2582T>C|1244|ALPK1|protein_coding|CODING|NM_025144.3|11|1)","H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.5573,0.5807,0.6501,0.68,0.73,0.66,,0.139088(N),1.000(P),"4.45,4.45,4.37(T,T,T)",0.0000(T),0.037,-1.766884,4.66,1.74,-0.726000,0.136000,-1.408000,0.012000,0.004000,0.000000,4.8695
synonymous_variant,ALPK1,SILENT,NM_001102406.1:p.Arg1084Arg/c.3252A>G,cgA/cgG,LOW,COSM4158752(1),0.661342,0.7004,rs231247,,,,,,chr4,113359703,113359703,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1084Arg/c.3252A>G|1244|ALPK1|protein_coding|CODING|NM_001102406.1|13|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1006Arg/c.3018A>G|1166|ALPK1|protein_coding|CODING|NM_001253884.1|12|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1084Arg/c.3252A>G|1244|ALPK1|protein_coding|CODING|NM_025144.3|13|1)",CD4:H3K36me3,,,,0.5675,0.5749,0.6551,0.68,0.73,0.66,,,,,,,,,,,,,,,,
synonymous_variant,NEUROG2,SILENT,NM_024019.3:p.Gly196Gly/c.588A>C,ggA/ggC,LOW,COSM3749850(9),0.957867,1,rs901474,,,,,,chr4,113436044,113436044,T,G,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly196Gly/c.588A>C|272|NEUROG2|protein_coding|CODING|NM_024019.3|2|1),"H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.9785,0.9337,0.8628,0.90,0.98,0.86,,,,,,,,,,,,,,,,
missense_variant,ZGRF1,MISSENSE,NM_018392.4:p.Asn410Ser/c.1229A>G,aAt/aGt,MODERATE,,0.417732,0.4117,rs386612597,1(T),"0.0,0.0(B,B)",-0.345(N),-0.9973(T),,chr4,113539969,113539969,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn410Ser/c.1229A>G|2104|ZGRF1|protein_coding|CODING|NM_018392.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.5086,0.4284,0.39,0.33,0.42,,0.840098(N),1.000(P),"-1.46,2.03,1.62(T,T,T)",0.0000(T),0.003,-1.932518,5.05,-0.147,-1.022000,0.149000,-1.654000,0.022000,0.011000,0.000000,1.4742
missense_variant,LARP7,MISSENSE,NM_001267039.1:p.Glu11Lys/c.31G>A,Gaa/Aaa,MODERATE,,0.0716853,0.1806,rs79383654,0.09(T),"0.19,0.19(B,B)",1.95(M),-1.0715(T),,chr4,113565835,113565835,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu11Lys/c.31G>A|589|LARP7|protein_coding|CODING|NM_001267039.1|4|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu4Lys/c.10G>A|582|LARP7|protein_coding|CODING|NM_015454.2|2|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu4Lys/c.10G>A|582|LARP7|protein_coding|CODING|NM_016648.3|2|1),non_coding_exon_variant(MODIFIER|||n.288G>A||LARP7||CODING|NR_049768.1|2|1)","H1ESC:PolII,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117485.2,,0.1063,0.0476,0.0298,0.03,0.01,0.04,,0.000269(D),0.053(P),"2.11,2.1,0.86,0.94,2.06,2.11,0.88(T,T,T,T,T,T,T)",0.0003(T),0.421,2.949300,5.17,3.33,0.644000,1.130000,3.034000,0.983000,0.974000,1.000000,11.9314
missense_variant,LARP7,MISSENSE,NM_001267039.1:p.Glu224Asp/c.672G>C,gaG/gaC,MODERATE,,0.00559105,0.002,rs141178932,0.1(T),"0.138,0.018(B,B)",2.215(M),-1.0889(T),,chr4,113568359,113568359,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu224Asp/c.672G>C|589|LARP7|protein_coding|CODING|NM_001267039.1|9|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu217Asp/c.651G>C|582|LARP7|protein_coding|CODING|NM_015454.2|7|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu217Asp/c.651G>C|582|LARP7|protein_coding|CODING|NM_016648.3|7|1),downstream_gene_variant(MODIFIER||671|||MIR367||NON_CODING|NR_029860.1||1),downstream_gene_variant(MODIFIER||801|||MIR302D||NON_CODING|NR_029859.1||1),downstream_gene_variant(MODIFIER||980|||MIR302A||NON_CODING|NR_029835.1||1),downstream_gene_variant(MODIFIER||1160|||MIR302C||NON_CODING|NR_029858.1||1),downstream_gene_variant(MODIFIER||1282|||MIR302B||NON_CODING|NR_029857.1||1),non_coding_exon_variant(MODIFIER|||n.826G>C||LARP7||CODING|NR_049768.1|7|1)","H1ESC:PolII,H1ESC:H3K36me3,H1ESC:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:H3K4me3,H1ESC:H4K5ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,H1ESC:TAF7,GM06990:H3K36me3",,RCV000117486.2,,0.0082,0.0086,0.0109,0.01,0.00,0.01,,0.000001(D),0.986(D),"2.04,2.03,2.0,2.04(T,T,T,T)",0.0381(T),0.237,2.088727,5.66,-3.96,-0.253000,-0.858000,0.138000,0.935000,0.922000,0.992000,14.1476
missense_variant,LARP7,MISSENSE,NM_001267039.1:p.Arg286Gln/c.857G>A,cGg/cAg,MODERATE,,0.0698882,0.1796,rs62317770,,,1.245(L),-1.0639(T),,chr4,113568544,113568544,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg286Gln/c.857G>A|589|LARP7|protein_coding|CODING|NM_001267039.1|9|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg279Gln/c.836G>A|582|LARP7|protein_coding|CODING|NM_015454.2|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg279Gln/c.836G>A|582|LARP7|protein_coding|CODING|NM_016648.3|7|1),downstream_gene_variant(MODIFIER||486|||MIR367||NON_CODING|NR_029860.1||1),downstream_gene_variant(MODIFIER||616|||MIR302D||NON_CODING|NR_029859.1||1),downstream_gene_variant(MODIFIER||795|||MIR302A||NON_CODING|NR_029835.1||1),downstream_gene_variant(MODIFIER||975|||MIR302C||NON_CODING|NR_029858.1||1),downstream_gene_variant(MODIFIER||1097|||MIR302B||NON_CODING|NR_029857.1||1),non_coding_exon_variant(MODIFIER|||n.1011G>A||LARP7||CODING|NR_049768.1|7|1)","H1ESC:PolII,H1ESC:H3K36me3,H1ESC:H3K9ac,H1ESC:TAF1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:H3K4me3,H1ESC:H4K5ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:TAF7,GM06990:H3K36me3",,RCV000117487.2,,0.1074,0.0476,0.0298,0.03,0.01,0.04,,,1.000(P),,0.0002(T),.,0.994103,5.86,3.82,0.563000,1.486000,1.146000,0.125000,0.132000,0.008000,6.7591
synonymous_variant,ANK2,SILENT,NM_001148.4:p.Arg1193Arg/c.3579C>T,cgC/cgT,LOW,,0.260383,0.1161,rs3736575,,,,-1.0638(T),,chr4,114257201,114257201,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1184Arg/c.3552C>T|1863|ANK2|protein_coding|CODING|NM_001127493.1|32|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1193Arg/c.3579C>T|3957|ANK2|protein_coding|CODING|NM_001148.4|30|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1193Arg/c.3579C>T|1872|ANK2|protein_coding|CODING|NM_020977.3|30|1)","H1ESC:H3K36me3,H1ESC:DNase1,NHEK:H3K27me3",,,,0.1227,0.2017,0.1014,0.25,0.54,0.10,,0.000136(D),0.000(P),-0.73(T),0.0000(T),.,0.309745,5.27,-10.5,-0.743000,-3.279000,-3.979000,0.750000,0.204000,0.000000,7.0199
synonymous_variant,ANK2,SILENT,NM_001148.4:p.Pro1823Pro/c.5469C>T,ccC/ccT,LOW,,0.0389377,0.001,rs33966911,,,,,,chr4,114275243,114275243,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1823Pro/c.5469C>T|3957|ANK2|protein_coding|CODING|NM_001148.4|38|1),intron_variant(MODIFIER|||c.4399+3838C>T|1863|ANK2|protein_coding|CODING|NM_001127493.1|39|1),intron_variant(MODIFIER|||c.4426+3838C>T|1872|ANK2|protein_coding|CODING|NM_020977.3|37|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0184,0.0591,0.1213,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,ANK2,MISSENSE,NM_001148.4:p.Val2369Ala/c.7106T>C,gTt/gCt,MODERATE,COSM4158756(1),0.0920527,0.001,rs28377576,,"0.0,0.0(B,B)",-1.39(N),-1.0474(T),,chr4,114276880,114276880,T,C,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val2369Ala/c.7106T>C|3957|ANK2|protein_coding|CODING|NM_001148.4|38|1),intron_variant(MODIFIER|||c.4400-5099T>C|1863|ANK2|protein_coding|CODING|NM_001127493.1|39|1),intron_variant(MODIFIER|||c.4427-5099T>C|1872|ANK2|protein_coding|CODING|NM_020977.3|37|1)","NHEK:CTCF,CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,GM12878:Pax5,HUVEC:H3K27me3,CD4:H2BK5ac,CD4:DNase1,GM12878:BATF,CD4:H4K8ac,IMR90:DNase1,HMEC:H3K27ac,CD4:H3K27ac,HeLa-S3:CTCF,GM12878:CTCF,NH-A:DNase1,HSMM:DNase1,HMEC:CTCF,GM12878:EBF,GM12878:IRF4,NHEK:H3K27me3,CD4:H3K36ac,GM12878:BCL11A,CD4:H4K5ac,IMR90:H3K27me3,CD4:H3K4me2,HMEC:DNase1,CD4:H2BK120ac,GM12878:DNase1,GM12878:PU1,CD4:H3K9ac,GM06990:DNase1,NHEK:DNase1,GM12878:Tcf12,GM06990:CTCF",,RCV000029338.1,,0.0194,0.0821,0.1252,0.14,0.19,0.12,,0.406419(N),1.000(P),"-0.12,-0.14(T,T)",0.0001(T),0.02,-1.660761,5.79,0.026,-0.119000,-0.156000,0.015000,0.006000,0.004000,0.003000,1.2929
synonymous_variant,ANK2,SILENT,NM_001148.4:p.Gln2370Gln/c.7110A>G,caA/caG,LOW,,0.284944,0.1151,rs3733615,,,,,,chr4,114276884,114276884,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln2370Gln/c.7110A>G|3957|ANK2|protein_coding|CODING|NM_001148.4|38|1),intron_variant(MODIFIER|||c.4400-5095A>G|1863|ANK2|protein_coding|CODING|NM_001127493.1|39|1),intron_variant(MODIFIER|||c.4427-5095A>G|1872|ANK2|protein_coding|CODING|NM_020977.3|37|1)","NHEK:CTCF,CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,GM12878:Pax5,HUVEC:H3K27me3,CD4:H2BK5ac,CD4:DNase1,GM12878:BATF,CD4:H4K8ac,IMR90:DNase1,HMEC:H3K27ac,CD4:H3K27ac,HeLa-S3:CTCF,GM12878:CTCF,NH-A:DNase1,HSMM:DNase1,HMEC:CTCF,GM12878:EBF,GM12878:IRF4,NHEK:H3K27me3,CD4:H3K36ac,GM12878:BCL11A,CD4:H4K5ac,IMR90:H3K27me3,CD4:H3K4me2,HMEC:DNase1,CD4:H2BK120ac,GM12878:DNase1,GM12878:PU1,CD4:H3K9ac,GM06990:DNase1,NHEK:DNase1,GM12878:Tcf12,GM06990:CTCF",,,,0.1391,0.2392,0.17,0.29,0.55,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ANK2,SILENT,NM_001148.4:p.Glu3216Glu/c.9648A>G,gaA/gaG,LOW,,0.0920527,0.001,rs10013743,,,,,,chr4,114279422,114279422,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu3216Glu/c.9648A>G|3957|ANK2|protein_coding|CODING|NM_001148.4|38|1),intron_variant(MODIFIER|||c.4400-2557A>G|1863|ANK2|protein_coding|CODING|NM_001127493.1|39|1),intron_variant(MODIFIER|||c.4427-2557A>G|1872|ANK2|protein_coding|CODING|NM_020977.3|37|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0194,0.0821,0.1272,0.14,0.19,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ANK2,SILENT,NM_001148.4:p.His3891His/c.11673T>C,caT/caC,LOW,,0.313299,0.1359,rs2293324,,,,-1.0518(T),,chr4,114294308,114294308,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His1797His/c.5391T>C|1863|ANK2|protein_coding|CODING|NM_001127493.1|45|1),synonymous_variant(LOW|SILENT|caT/caC|p.His3891His/c.11673T>C|3957|ANK2|protein_coding|CODING|NM_001148.4|44|1),synonymous_variant(LOW|SILENT|caT/caC|p.His1806His/c.5418T>C|1872|ANK2|protein_coding|CODING|NM_020977.3|43|1)","H1ESC:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1401,0.2363,0.168,0.32,0.63,0.16,,,0.000(P),,0.0000(T),.,-0.627569,6.06,-12.1,-2.815000,-4.048000,-2.303000,0.322000,0.019000,0.000000,14.8336
synonymous_variant,UGT8,SILENT,NM_003360.3:p.Pro226Pro/c.678A>G,ccA/ccG,LOW,,0.982428,1,rs6851610,,,,,,chr4,115544714,115544714,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro226Pro/c.678A>G|541|UGT8|protein_coding|CODING|NM_003360.3|1|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro226Pro/c.678A>G|541|UGT8|protein_coding|CODING|NM_001128174.1|2|1)",,,,,1,0.9942,1,0.97,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,UGT8,MISSENSE,NM_001128174.1:p.Ile368Met/c.1104A>G,atA/atG,MODERATE,,0.989217,1,rs11098261,0.2(T),0.064(B),1.28(L),-1.0404(T),,chr4,115589302,115589302,A,G,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile368Met/c.1104A>G|541|UGT8|protein_coding|CODING|NM_001128174.1|5|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile368Met/c.1104A>G|541|UGT8|protein_coding|CODING|NM_003360.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K27me3",,,,1,0.9957,1,0.98,0.95,1.00,,0.000000(N),1.000(P),"-0.33,-0.33(T,T)",0.0000(T),0.212,1.794670,5.77,1.96,-0.220000,-0.150000,5.650000,0.982000,0.338000,1.000000,7.5897
synonymous_variant,NDST3,SILENT,NM_004784.2:p.Pro745Pro/c.2235G>A,ccG/ccA,LOW,COSM1131293(2),0.248403,0.2083,rs617430,,,,,,chr4,119161795,119161795,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro745Pro/c.2235G>A|873|NDST3|protein_coding|CODING|NM_004784.2|11|1),HUVEC:H3K27me3,,,,0.362,0.3588,0.3688,0.30,0.10,0.40,,,,,,,,,,,,,,,,
synonymous_variant,PRSS12,SILENT,NM_003619.3:p.Gln427Gln/c.1281A>G,caA/caG,LOW,COSM149728(2),0.545327,0.5843,rs2292597,,,,,,chr4,119237348,119237348,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln427Gln/c.1281A>G|875|PRSS12|protein_coding|CODING|NM_003619.3|6|1),NHEK:H3K36me3,,RCV000118068.2,,0.5971,0.5692,0.5626,0.52,0.47,0.55,,,,,,,,,,,,,,,,
missense_variant,PRSS12,MISSENSE,NM_003619.3:p.Arg55Thr/c.164G>C,aGg/aCg,MODERATE,COSM4158761(3),0.492212,0.4712,rs13119545,0.42(T),0.007(B),0.345(N),-0.9487(T),,chr4,119273712,119273712,C,G,hom,missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg55Thr/c.164G>C|875|PRSS12|protein_coding|CODING|NM_003619.3|1|1),"NHEK:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K27ac,HSMM:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000118069.1,,0.5716,0.7378,0.6352,0.55,0.32,0.66,,0.011971(N),1.000(P),-2.29(D),0.0000(T),0.056,1.848285,3.09,1.31,0.467000,0.145000,-0.081000,0.014000,0.002000,0.000000,5.3121
synonymous_variant,SYNPO2,SILENT,NM_133477.2:p.Gly44Gly/c.132G>T,ggG/ggT,LOW,COSM3760353(1),0.411941,0.4524,rs1459058,,,,,,chr4,119944611,119944611,G,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly44Gly/c.132G>T|1093|SYNPO2|protein_coding|CODING|NM_001128933.2|2|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly44Gly/c.132G>T|1109|SYNPO2|protein_coding|CODING|NM_001128934.2|2|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly13Gly/c.39G>T|1230|SYNPO2|protein_coding|CODING|NM_001286754.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly44Gly/c.132G>T|123|SYNPO2|protein_coding|CODING|NM_001286755.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly44Gly/c.132G>T|1261|SYNPO2|protein_coding|CODING|NM_133477.2|2|1)",,,,,0.5286,0.4784,0.503,0.41,0.23,0.50,,,,,,,,,,,,,,,,
missense_variant,SYNPO2,MISSENSE,NM_133477.2:p.Thr573Ala/c.1717A>G,Aca/Gca,MODERATE,,0.843251,0.873,rs7698598,,,-1.15(N),-1.0211(T),,chr4,119951647,119951647,A,G,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr573Ala/c.1717A>G|1109|SYNPO2|protein_coding|CODING|NM_001128934.2|4|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr542Ala/c.1624A>G|1230|SYNPO2|protein_coding|CODING|NM_001286754.1|4|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr573Ala/c.1717A>G|1261|SYNPO2|protein_coding|CODING|NM_133477.2|4|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr573Ala/c.1717A>G|1093|SYNPO2|protein_coding|CODING|NM_001128933.2|4|1),intron_variant(MODIFIER|||c.257+6911A>G|123|SYNPO2|protein_coding|CODING|NM_001286755.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8006,0.8963,0.8668,0.85,0.82,0.87,,,1.000(P),,0.0000(T),.,-3.226984,4.67,1.88,-0.119000,-0.055000,0.696000,0.001000,0.000000,0.008000,3.1381
synonymous_variant,USP53,SILENT,NM_019050.2:p.Thr246Thr/c.738A>G,acA/acG,LOW,,0.23762,0.2629,rs35372126,,,,,,chr4,120181724,120181724,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr246Thr/c.738A>G|1073|USP53|protein_coding|CODING|NM_019050.2|10|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3364,0.3372,0.2724,0.21,0.09,0.26,,,,,,,,,,,,,,,,
synonymous_variant,FABP2,SILENT,NM_000134.3:p.Asn72Asn/c.216T>C,aaT/aaC,LOW,,0.585863,0.6508,rs4834770,,,,,,chr4,120241849,120241849,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn72Asn/c.216T>C|132|FABP2|protein_coding|CODING|NM_000134.3|2|1),HUVEC:H3K27me3,,,,0.5348,0.6499,0.5676,0.56,0.55,0.57,,,,,,,,,,,,,,,,
missense_variant,FABP2,MISSENSE,NM_000134.3:p.Thr55Ala/c.163A>G,Act/Gct,MODERATE,,0.746605,0.754,rs1799883,0.06(T),,,-1.0937(T),,chr4,120241902,120241902,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr55Ala/c.163A>G|132|FABP2|protein_coding|CODING|NM_000134.3|2|1),HUVEC:H3K27me3,,RCV000017958.1,,0.6892,0.7695,0.7316,0.75,0.77,0.74,,0.184506(N),1.000(P),2.94(T),0.0000(T),0.008,0.728698,5.35,0.0484,-0.266000,0.049000,0.420000,0.074000,0.081000,0.101000,9.5064
missense_variant,PDE5A,MISSENSE,NM_001083.3:p.Ala93Val/c.278C>T,gCc/gTc,MODERATE,,0.810104,0.8968,rs3733526,0.3(T),"0.0,0.002(B,B)",0.895(L),-1.0540(T),,chr4,120528327,120528327,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala93Val/c.278C>T|875|PDE5A|protein_coding|CODING|NM_001083.3|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala51Val/c.152C>T|833|PDE5A|protein_coding|CODING|NM_033430.2|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala41Val/c.122C>T|823|PDE5A|protein_coding|CODING|NM_033437.3|2|1)","IMR90:H4K20me1,IMR90:H3K36me3,IMR90:H3K79me2",,,,0.8384,0.8588,0.8131,0.78,0.70,0.82,,0.752290(N),1.000(P),"3.06,3.06,3.06,3.06(T,T,T,T)",0.0000(T),0.122,1.831551,5.64,2.84,0.655000,0.259000,1.014000,0.996000,0.012000,0.951000,5.2656
synonymous_variant,NDNF,SILENT,NM_024574.3:p.Ser464Ser/c.1392A>G,tcA/tcG,LOW,,0.821486,0.9732,rs1397645,,,,,,chr4,121957734,121957734,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser464Ser/c.1392A>G|568|NDNF|protein_coding|CODING|NM_024574.3|4|1),GM06990:H3K27me3,,,,0.8599,0.8761,0.8668,0.80,0.68,0.87,,,,,,,,,,,,,,,,
synonymous_variant,NDNF,SILENT,NM_024574.3:p.Leu345Leu/c.1035A>C,ctA/ctC,LOW,COSM1131290(2),0.429113,0.6458,rs3733558,,,,,,chr4,121958091,121958091,T,G,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu345Leu/c.1035A>C|568|NDNF|protein_coding|CODING|NM_024574.3|4|1),GM06990:H3K27me3,,,,0.4458,0.4726,0.6113,0.47,0.18,0.62,,,,,,,,,,,,,,,,
synonymous_variant,NDNF,SILENT,NM_024574.3:p.Asp313Asp/c.939T>C,gaT/gaC,LOW,COSM1131289(4),0.425319,0.6458,rs3822230,,,,,,chr4,121958187,121958187,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp313Asp/c.939T>C|568|NDNF|protein_coding|CODING|NM_024574.3|4|1),GM06990:H3K27me3,,,,0.4458,0.4726,0.6113,0.47,0.17,0.62,,,,,,,,,,,,,,,,
synonymous_variant,NDNF,SILENT,NM_024574.3:p.Ser143Ser/c.429C>T,tcC/tcT,LOW,,0.399161,0.5962,rs3733560,,,,,,chr4,121958697,121958697,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser143Ser/c.429C>T|568|NDNF|protein_coding|CODING|NM_024574.3|4|1),GM06990:H3K27me3,,,,0.4305,0.4438,0.5656,0.45,0.16,0.59,,,,,,,,,,,,,,,,
missense_variant,TMEM155,MISSENSE,NM_152399.2:p.Ala11Val/c.32C>T,gCt/gTt,MODERATE,,0.886981,0.881,rs4370153,0(D),0.0(B),-0.55(N),-0.9059(T),,chr4,122683007,122683007,G,A,hom,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala11Val/c.32C>T|130|TMEM155|protein_coding|CODING|NM_152399.2|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3",,,,0.8865,0.8948,0.826,0.87,0.92,0.85,,0.007964(N),1.000(P),"0.54,0.54,0.54,0.4(T,T,T,T)",0.0000(T),0.429,1.168907,5.36,-3.35,-0.254000,-0.825000,-0.170000,0.001000,0.000000,0.000000,2.881
missense_variant,CCNA2,MISSENSE,NM_001237.3:p.Ile163Val/c.487A>G,Ata/Gta,MODERATE,,0.96865,0.9494,rs386612552,0.37(T),0.0(B),-1.455(N),-0.9949(T),,chr4,122742217,122742217,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile163Val/c.487A>G|432|CCNA2|protein_coding|CODING|NM_001237.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9703,0.9755,0.9493,0.97,0.99,0.96,,0.191869(N),1.000(P),2.65(T),0.0000(T),0.042,-0.007764,5.86,4.14,-0.186000,0.408000,1.143000,0.972000,0.495000,0.983000,8.623
synonymous_variant,TRPC3,SILENT,NM_001130698.1:p.Gly39Gly/c.117C>T,ggC/ggT,LOW,COSM3760362(4),0.378994,0.5179,rs1396082,,,,,,chr4,122872719,122872719,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly39Gly/c.117C>T|921|TRPC3|protein_coding|CODING|NM_001130698.1|1|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.4366,0.4193,0.5318,,,,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1109,SILENT,NM_015312.3:p.Pro904Pro/c.2712T>A,ccT/ccA,LOW,COSM3760363(1),0.273762,0.3562,rs7658836,,,,-0.9868(T),,chr4,123145751,123145751,T,A,het,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro904Pro/c.2712T>A|5005|KIAA1109|protein_coding|CODING|NM_015312.3|21|1),"K562:CTCF,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:CTCF",,,,0.4632,0.3055,0.2913,0.23,0.09,0.30,,,0.000(P),,0.0000(T),.,1.176902,5.03,3.87,0.482000,0.892000,0.023000,0.992000,1.000000,0.905000,9.0195
missense_variant,KIAA1109,MISSENSE,NM_015312.3:p.Arg2222Trp/c.6664C>T,Cgg/Tgg,MODERATE,,0.0151757,0,rs45510500,,,0.695(N),-1.0864(T),,chr4,123179900,123179900,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg2222Trp/c.6664C>T|5005|KIAA1109|protein_coding|CODING|NM_015312.3|40|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0259,0.0507,0.04,0.01,0.05,,,1.000(D),,0.0159(T),.,4.687562,6.01,5.16,0.585000,1.521000,3.696000,0.889000,0.782000,0.999000,16.8086
synonymous_variant,KIAA1109,SILENT,NM_015312.3:p.Asp2568Asp/c.7704T>C,gaT/gaC,LOW,COSM3760364(1),0.273363,0.3611,rs45574236,,,,-0.9766(T),,chr4,123192383,123192383,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2568Asp/c.7704T>C|5005|KIAA1109|protein_coding|CODING|NM_015312.3|45|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4683,0.3026,0.2913,0.23,0.08,0.30,,,0.000(P),,0.0000(T),.,0.625574,5.82,0.618,0.383000,0.109000,1.125000,0.996000,0.997000,1.000000,10.8498
synonymous_variant,KIAA1109,SILENT,NM_015312.3:p.Ala3290Ala/c.9870C>T,gcC/gcT,LOW,COSM4002927(1),0.277157,0.3611,rs7688384,,,,-0.9336(T),,chr4,123229132,123229132,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala3290Ala/c.9870C>T|5005|KIAA1109|protein_coding|CODING|NM_015312.3|56|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4673,0.3084,0.3072,0.25,0.08,0.32,,,0.000(P),,0.0000(T),.,1.078547,5.92,4.74,-0.254000,0.503000,-0.047000,0.992000,1.000000,0.931000,2.7244
synonymous_variant,IL2,SILENT,NM_000586.3:p.Leu38Leu/c.114G>T,ctG/ctT,LOW,,0.298722,0.4613,rs2069763,,,,,,chr4,123377482,123377482,C,A,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu38Leu/c.114G>T|153|IL2|protein_coding|CODING|NM_000586.3|1|1),CD4:DNase1,,,,0.2853,0.4366,0.3449,0.26,0.13,0.32,,,,,,,,,,,,,,,,
synonymous_variant,IL21,SILENT,NM_021803.3:p.Cys78Cys/c.234C>T,tgC/tgT,LOW,,0.840455,0.8869,rs4833837,,,,,,chr4,123536963,123536963,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys78Cys/c.234C>T|153|IL21|protein_coding|CODING|NM_001207006.2|3|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys78Cys/c.234C>T|162|IL21|protein_coding|CODING|NM_021803.3|3|1)",HUVEC:H3K27me3,,,,0.8446,0.817,0.6581,0.77,0.92,0.69,,,,,,,,,,,,,,,,
missense_variant,BBS12,MISSENSE,NM_001178007.1:p.Arg386Gln/c.1157G>A,cGg/cAg,MODERATE,COSM4002928(1),0.50639,0.6597,rs309370,0.59(T),0.002(B),0.345(N),-0.9523(T),,chr4,123664204,123664204,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg386Gln/c.1157G>A|710|BBS12|protein_coding|CODING|NM_001178007.1|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg386Gln/c.1157G>A|710|BBS12|protein_coding|CODING|NM_152618.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4601,0.4726,0.3191,0.41,0.56,0.34,,0.555912(N),1.000(P),"-1.22,-1.22(T,T)",0.0000(T),0.047,-0.184690,5.68,0.337,-0.269000,0.085000,-0.101000,0.390000,0.000000,0.000000,2.2036
synonymous_variant,BBS12,SILENT,NM_001178007.1:p.Val460Val/c.1380G>C,gtG/gtC,LOW,,0.0946486,0,rs13135766,,,,,,chr4,123664427,123664427,G,C,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val460Val/c.1380G>C|710|BBS12|protein_coding|CODING|NM_001178007.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val460Val/c.1380G>C|710|BBS12|protein_coding|CODING|NM_152618.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1186,0.1081,0.2177,0.17,0.07,0.23,,,,,,,,,,,,,,,,
missense_variant,BBS12,MISSENSE,NM_001178007.1:p.Asp467Asn/c.1399G>A,Gac/Aac,MODERATE,,0.0926518,0,rs13135778,0.8(T),0.0(B),-1.59(N),-1.0906(T),,chr4,123664446,123664446,G,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp467Asn/c.1399G>A|710|BBS12|protein_coding|CODING|NM_001178007.1|3|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp467Asn/c.1399G>A|710|BBS12|protein_coding|CODING|NM_152618.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1115,0.1052,0.2127,0.17,0.07,0.23,,0.418035(N),1.000(P),"-1.16,-1.16(T,T)",0.0001(T),0.01,-1.552873,5.69,1.9,-0.269000,-0.117000,0.602000,0.138000,0.033000,0.000000,9.6017
synonymous_variant,BBS12,SILENT,NM_001178007.1:p.Cys470Cys/c.1410C>T,tgC/tgT,LOW,,0.121006,0,rs13135445,,,,,,chr4,123664457,123664457,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys470Cys/c.1410C>T|710|BBS12|protein_coding|CODING|NM_001178007.1|3|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys470Cys/c.1410C>T|710|BBS12|protein_coding|CODING|NM_152618.2|2|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1115,0.1297,0.2346,0.21,0.14,0.25,,,,,,,,,,,,,,,,
synonymous_variant,BBS12,SILENT,NM_001178007.1:p.Gln624Gln/c.1872A>G,caA/caG,LOW,,0.091853,0,rs13102440,,,,,,chr4,123664919,123664919,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln624Gln/c.1872A>G|710|BBS12|protein_coding|CODING|NM_001178007.1|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln624Gln/c.1872A>G|710|BBS12|protein_coding|CODING|NM_152618.2|2|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.1115,0.1052,0.2127,0.17,0.07,0.23,,,,,,,,,,,,,,,,
missense_variant,NUDT6,MISSENSE,NM_007083.4:p.Arg209Gln/c.626G>A,cGg/cAg,MODERATE,COSM149734(2),0.228834,0.4554,rs1048201,0.02(D),0.999(D),3.065(M),-0.9520(T),,chr4,123814308,123814308,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg209Gln/c.626G>A|316|NUDT6|protein_coding|CODING|NM_007083.4|5|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg40Gln/c.119G>A|147|NUDT6|protein_coding|CODING|NM_198041.2|5|1),3_prime_UTR_variant(MODIFIER||757|c.*757C>T|288|FGF2|protein_coding|CODING|NM_002006.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3569,0.1499,0.1779,0.14,0.07,0.17,,0.000000(D),0.000(P),"3.17,3.17,3.17(T,T,T)",0.0000(T),0.51,5.258099,5.41,5.41,0.650000,2.538000,7.013000,0.948000,0.998000,1.000000,19.2326
missense_variant,NUDT6,MISSENSE,NM_007083.4:p.Cys114Arg/c.340T>C,Tgc/Cgc,MODERATE,COSM1131278(1),0.605631,0.9415,rs12648093,0.46(T),0.001(B),0.66(N),-1.0230(T),,chr4,123838758,123838758,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys114Arg/c.340T>C|316|NUDT6|protein_coding|CODING|NM_007083.4|2|1),5_prime_UTR_variant(MODIFIER||19934|c.-168T>C|147|NUDT6|protein_coding|CODING|NM_198041.2|2|1)","HSMM:H3K36me3,HepG2:H3K36me3",,,,0.6513,0.6412,0.7386,0.61,0.32,0.74,,0.336117(N),0.590(P),1.44(T),0.0000(T),0.06,-1.345983,4.63,-7.93,-1.590000,-1.553000,-0.941000,0.005000,0.535000,0.000000,2.8204
synonymous_variant,NUDT6,SILENT,NM_007083.4:p.Pro4Pro/c.12A>G,ccA/ccG,LOW,COSM1753522(6),0.74361,0.9514,rs13134412,,,,,,chr4,123843716,123843716,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4Pro/c.12A>G|316|NUDT6|protein_coding|CODING|NM_007083.4|1|1),upstream_gene_variant(MODIFIER||509||893|SPATA5|protein_coding|CODING|NM_145207.2||1),intron_variant(MODIFIER|||c.-270+240A>G|147|NUDT6|protein_coding|CODING|NM_198041.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.9029,0.7723,0.8887,0.76,0.45,0.90,,,,,,,,,,,,,,,,
missense_variant,FAT4,MISSENSE,NM_001291303.1:p.Pro56Ser/c.166C>T,Cct/Tct,MODERATE,,,,,0.04(D),0.994(D),2.28(M),0.2162(D),,chr4,126237732,126237732,C,T,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro56Ser/c.166C>T|4982|FAT4|protein_coding|CODING|NM_001291285.1|1|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro56Ser/c.166C>T|4983|FAT4|protein_coding|CODING|NM_001291303.1|1|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro56Ser/c.166C>T|4981|FAT4|protein_coding|CODING|NM_024582.4|1|1)","HSMM:H2AZ,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,,1.000(D),-0.85(T),0.5809(D),0.43,4.918327,4.89,4.89,0.655000,2.523000,5.775000,0.770000,0.747000,1.000000,17.8656
synonymous_variant,FAT4,SILENT,NM_001291303.1:p.Phe135Phe/c.405C>T,ttC/ttT,LOW,COSM3760367(1),0.130391,0.0982,rs72928772,,,,,,chr4,126237971,126237971,C,T,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe135Phe/c.405C>T|4982|FAT4|protein_coding|CODING|NM_001291285.1|1|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe135Phe/c.405C>T|4983|FAT4|protein_coding|CODING|NM_001291303.1|1|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe135Phe/c.405C>T|4981|FAT4|protein_coding|CODING|NM_024582.4|1|1)","HSMM:H2AZ,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1503,0.1354,0.2197,0.17,0.09,0.22,,,,,,,,,,,,,,,,
missense_variant,FAT4,MISSENSE,NM_001291303.1:p.Gln453Leu/c.1358A>T,cAg/cTg,MODERATE,COSM3760369(1),0.426318,0.2371,rs6847454,0.3(T),0.009(B),0(N),-0.9284(T),,chr4,126238924,126238924,A,T,hom,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln453Leu/c.1358A>T|4982|FAT4|protein_coding|CODING|NM_001291285.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln453Leu/c.1358A>T|4983|FAT4|protein_coding|CODING|NM_001291303.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln453Leu/c.1358A>T|4981|FAT4|protein_coding|CODING|NM_024582.4|1|1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,H1ESC:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HMEC:CTCF,HUVEC:H3K4me2,NH-A:CTCF,HSMM:H3K4me3,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,H1ESC:CTCF",,,,0.3845,0.4092,0.4205,0.47,0.55,0.43,,0.979875(U),0.946(P),0.61(T),0.0000(T),0.07,-0.590036,3.81,-2.64,0.459000,-0.504000,0.150000,0.545000,0.080000,0.049000,7.174
missense_variant,FAT4,MISSENSE,NM_001291303.1:p.Ala807Val/c.2420C>T,gCg/gTg,MODERATE,COSM3760371(1),0.424121,0.2252,rs1039808,0.09(T),0.253(B),1.175(L),-1.0617(T),,chr4,126239986,126239986,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala807Val/c.2420C>T|4982|FAT4|protein_coding|CODING|NM_001291285.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala807Val/c.2420C>T|4983|FAT4|protein_coding|CODING|NM_001291303.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala807Val/c.2420C>T|4981|FAT4|protein_coding|CODING|NM_024582.4|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3865,0.4092,0.4205,0.46,0.54,0.43,,0.004241(U),0.000(P),4.63(T),0.0000(T),0.09,2.255592,5.13,5.13,0.655000,2.396000,3.596000,0.476000,0.997000,0.997000,18.603
synonymous_variant,FAT4,SILENT,NM_001291303.1:p.Leu982Leu/c.2944T>C,Tta/Cta,LOW,,0.721046,0.4603,rs2940779,,,,,,chr4,126240510,126240510,T,C,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu982Leu/c.2944T>C|4982|FAT4|protein_coding|CODING|NM_001291285.1|1|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu982Leu/c.2944T>C|4983|FAT4|protein_coding|CODING|NM_001291303.1|1|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu982Leu/c.2944T>C|4981|FAT4|protein_coding|CODING|NM_024582.4|1|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7168,0.7291,0.7127,0.77,0.89,0.71,,,,,,,,,,,,,,,,
synonymous_variant,FAT4,SILENT,NM_001291303.1:p.Ile1435Ile/c.4305C>T,atC/atT,LOW,,0.711262,0.4474,rs2710555,,,,,,chr4,126241871,126241871,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile1435Ile/c.4305C>T|4982|FAT4|protein_coding|CODING|NM_001291285.1|1|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile1435Ile/c.4305C>T|4983|FAT4|protein_coding|CODING|NM_001291303.1|1|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile1435Ile/c.4305C>T|4981|FAT4|protein_coding|CODING|NM_024582.4|1|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.7178,0.7277,0.7127,0.75,0.86,0.71,,,,,,,,,,,,,,,,
synonymous_variant,FAT4,SILENT,NM_001291303.1:p.Asp1920Asp/c.5760T>C,gaT/gaC,LOW,COSM1131273(1),0.988419,1,rs958415,,,,,,chr4,126329789,126329789,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1920Asp/c.5760T>C|4982|FAT4|protein_coding|CODING|NM_001291285.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1920Asp/c.5760T>C|4983|FAT4|protein_coding|CODING|NM_001291303.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1920Asp/c.5760T>C|4981|FAT4|protein_coding|CODING|NM_024582.4|4|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,1,0.9928,0.998,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FAT4,SILENT,NM_001291303.1:p.Asn2195Asn/c.6585T>C,aaT/aaC,LOW,,0.204673,0.2262,rs17009618,,,,,,chr4,126336703,126336703,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2195Asn/c.6585T>C|4982|FAT4|protein_coding|CODING|NM_001291285.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2195Asn/c.6585T>C|4983|FAT4|protein_coding|CODING|NM_001291303.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2195Asn/c.6585T>C|4981|FAT4|protein_coding|CODING|NM_024582.4|5|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.274,0.2738,0.1461,0.13,0.13,0.13,,,,,,,,,,,,,,,,
synonymous_variant,FAT4,SILENT,NM_001291303.1:p.Val2569Val/c.7707G>C,gtG/gtC,LOW,,0.990815,1,rs988863,,,,,,chr4,126369872,126369872,G,C,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val2569Val/c.7707G>C|4982|FAT4|protein_coding|CODING|NM_001291285.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val2569Val/c.7707G>C|4983|FAT4|protein_coding|CODING|NM_001291303.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val2567Val/c.7701G>C|4981|FAT4|protein_coding|CODING|NM_024582.4|9|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,FAT4,MISSENSE,NM_001291303.1:p.Gly3526Asp/c.10577G>A,gGc/gAc,MODERATE,,0.230631,0.3909,rs1567047,0.02(D),"1.0,0.999,1.0(D,D,D)",2.38(M),-1.0863(T),,chr4,126372742,126372742,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly3526Asp/c.10577G>A|4982|FAT4|protein_coding|CODING|NM_001291285.1|9|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly3526Asp/c.10577G>A|4983|FAT4|protein_coding|CODING|NM_001291303.1|9|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly3524Asp/c.10571G>A|4981|FAT4|protein_coding|CODING|NM_024582.4|9|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.2628,0.2522,0.2952,0.22,0.07,0.30,,0.004671(U),0.000(P),"0.59,0.59(T,T)",0.0000(T),0.389,4.435957,5.77,5.77,0.561000,2.724000,9.666000,0.783000,0.935000,1.000000,19.9983
missense_variant,FAT4,MISSENSE,NM_001291303.1:p.Ser3875Asn/c.11624G>A,aGt/aAt,MODERATE,,0.991014,1,rs12650153,1(T),"0.0,0.0,0.0(B,B,B)",-2.99(N),-0.9242(T),,chr4,126373789,126373789,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3875Asn/c.11624G>A|4982|FAT4|protein_coding|CODING|NM_001291285.1|9|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3875Asn/c.11624G>A|4983|FAT4|protein_coding|CODING|NM_001291303.1|9|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser3873Asn/c.11618G>A|4981|FAT4|protein_coding|CODING|NM_024582.4|9|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,0.002580(N),1.000(P),"-2.26,-2.26(D,D)",0.0000(T),0.048,0.365974,5.27,5.27,-0.361000,0.834000,7.206000,0.882000,0.997000,1.000000,11.1392
synonymous_variant,FAT4,SILENT,NM_001291303.1:p.Arg4868Arg/c.14604A>G,agA/agG,LOW,,0.740615,0.8492,rs1014866,,,,,,chr4,126412575,126412575,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg4868Arg/c.14604A>G|4983|FAT4|protein_coding|CODING|NM_001291303.1|17|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg4866Arg/c.14598A>G|4981|FAT4|protein_coding|CODING|NM_024582.4|17|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg4867Arg/c.14601A>G|4982|FAT4|protein_coding|CODING|NM_001291285.1|17|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.7382,0.7205,0.7644,0.74,0.71,0.76,,,,,,,,,,,,,,,,
synonymous_variant,INTU,SILENT,NM_015693.3:p.Arg157Arg/c.471A>G,cgA/cgG,LOW,COSM4002935(2),0.616414,0.5506,rs3749507,,,,,,chr4,128565000,128565000,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg157Arg/c.471A>G|942|INTU|protein_coding|CODING|NM_015693.3|2|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7178,0.5778,0.5368,0.56,0.64,0.53,,,,,,,,,,,,,,,,
synonymous_variant,INTU,SILENT,NM_015693.3:p.Thr271Thr/c.813G>A,acG/acA,LOW,COSM4002937(1),0.64996,0.5526,rs4833380,,,,,,chr4,128584580,128584580,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr271Thr/c.813G>A|942|INTU|protein_coding|CODING|NM_015693.3|4|1),,,,,0.7403,0.6023,0.5646,0.61,0.72,0.55,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A31,SILENT,NM_031291.2:p.Pro221Pro/c.663A>G,ccA/ccG,LOW,,0.535942,0.4067,rs2305958,,,,,,chr4,128689936,128689936,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro221Pro/c.663A>G|315|SLC25A31|protein_coding|CODING|NM_031291.2|5|1),,,,,0.7444,0.6441,0.659,0.57,0.40,0.65,,,,,,,,,,,,,,,,
missense_variant,HSPA4L,MISSENSE,NM_014278.2:p.Leu211Ser/c.632T>C,tTg/tCg,MODERATE,COSM4002940(1),0.745208,0.6756,rs1380154,1(T),"0.001,0.001,0.001(B,B,B)",-3.185(N),-1.0398(T),,chr4,128723042,128723042,T,C,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu211Ser/c.632T>C|839|HSPA4L|protein_coding|CODING|NM_014278.2|6|1),"K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.7791,0.7738,0.6859,0.71,0.80,0.67,,0.000014(N),1.000(P),"6.73,6.73,6.73,6.73,6.73(T,T,T,T,T)",0.0000(T),0.174,0.256065,4.83,3.97,-0.119000,0.645000,4.180000,0.991000,0.974000,0.999000,9.6821
missense_variant,HSPA4L,MISSENSE,NM_014278.2:p.Ile601Thr/c.1802T>C,aTt/aCt,MODERATE,,0.0199681,0.001,rs35518193,0.46(T),"0.223,0.378,0.378(B,B,B)",0.59(N),-0.0588(T),,chr4,128741710,128741710,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile601Thr/c.1802T>C|839|HSPA4L|protein_coding|CODING|NM_014278.2|14|1),"K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0102,0.0447,0.0537,0.04,0.01,0.05,,0.000008(D),1.000(D),"5.37,5.37,5.37,5.37(T,T,T,T)",0.0007(T),0.459,2.133545,4.72,4.72,0.528000,1.984000,6.923000,0.995000,1.000000,1.000000,14.3819
missense_variant,PLK4,MISSENSE,NM_014264.4:p.Ser232Thr/c.694T>A,Tct/Act,MODERATE,COSM1426971(2),0.742212,0.6736,rs3811740,0.65(T),"0.001,0.001(B,B)",1.355(L),-1.0037(T),,chr4,128807219,128807219,T,A,het,"missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser200Thr/c.598T>A|938|PLK4|protein_coding|CODING|NM_001190799.1|4|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser191Thr/c.571T>A|929|PLK4|protein_coding|CODING|NM_001190801.1|5|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser232Thr/c.694T>A|970|PLK4|protein_coding|CODING|NM_014264.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.773,0.7738,0.6849,0.71,0.80,0.67,,0.752238(N),1.000(P),"1.81,1.81,1.81,1.81,1.81(T,T,T,T,T)",0.0000(T),0.026,-0.172577,5.77,-6.6,-1.068000,-1.784000,-0.351000,0.955000,0.443000,0.000000,12.4395
missense_variant,PLK4,MISSENSE,NM_014264.4:p.Glu830Asp/c.2490G>T,gaG/gaT,MODERATE,COSM4002941(1),0.742412,0.6736,rs17012739,0.61(T),"0.001,0.0(B,B)",0.11(N),-1.0912(T),,chr4,128814964,128814964,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu798Asp/c.2394G>T|938|PLK4|protein_coding|CODING|NM_001190799.1|12|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu789Asp/c.2367G>T|929|PLK4|protein_coding|CODING|NM_001190801.1|13|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu830Asp/c.2490G>T|970|PLK4|protein_coding|CODING|NM_014264.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.773,0.7738,0.6849,0.71,0.80,0.67,,0.857012(N),1.000(P),"-0.3,-0.27,-0.45,-0.28,-0.38,0.83(T,T,T,T,T,T)",0.0000(T),0.082,-1.604385,4.22,-8.44,-3.020000,-6.023000,-2.335000,0.000000,0.000000,0.000000,4.4246
synonymous_variant,LARP1B,SILENT,NM_018078.3:p.Gln91Gln/c.273A>G,caA/caG,LOW,,0.00439297,0.001,rs148060340,,,,-0.9238(T),,chr4,129003375,129003375,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln91Gln/c.273A>G|335|LARP1B|protein_coding|CODING|NM_001278604.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln91Gln/c.273A>G|914|LARP1B|protein_coding|CODING|NM_018078.3|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln91Gln/c.273A>G|358|LARP1B|protein_coding|CODING|NM_032239.3|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln91Gln/c.273A>G|522|LARP1B|protein_coding|CODING|NM_178043.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0072,0.0149,0.01,0.00,0.01,,,1.000(D),,0.1217(T),.,1.080209,4.49,3.33,0.374000,0.788000,2.964000,0.988000,1.000000,1.000000,9.1964
synonymous_variant,LARP1B,SILENT,NM_018078.3:p.Arg128Arg/c.384G>A,agG/agA,LOW,,0.638379,0.5288,rs2306054,,,,-0.9772(T),,chr4,129012181,129012181,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg128Arg/c.384G>A|335|LARP1B|protein_coding|CODING|NM_001278604.1|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg128Arg/c.384G>A|914|LARP1B|protein_coding|CODING|NM_018078.3|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg128Arg/c.384G>A|358|LARP1B|protein_coding|CODING|NM_032239.3|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg128Arg/c.384G>A|522|LARP1B|protein_coding|CODING|NM_178043.2|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7556,0.7161,0.675,0.65,0.63,0.67,,,0.000(P),,0.0000(T),.,0.297827,4.23,3.05,-0.254000,0.285000,2.013000,0.637000,0.998000,1.000000,7.2065
synonymous_variant,LARP1B,SILENT,NM_018078.3:p.Ala213Ala/c.639A>G,gcA/gcG,LOW,,0.637979,0.5288,rs1064205,,,,-0.9836(T),,chr4,129012638,129012638,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala213Ala/c.639A>G|335|LARP1B|protein_coding|CODING|NM_001278604.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala213Ala/c.639A>G|914|LARP1B|protein_coding|CODING|NM_018078.3|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala213Ala/c.639A>G|358|LARP1B|protein_coding|CODING|NM_032239.3|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala213Ala/c.639A>G|522|LARP1B|protein_coding|CODING|NM_178043.2|7|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7556,0.7161,0.675,0.65,0.63,0.67,,,0.968(P),,0.0000(T),.,0.984024,4.01,-0.00978,-0.378000,-0.061000,0.189000,0.984000,0.862000,0.230000,3.4697
missense_variant,LARP1B,MISSENSE,NM_018078.3:p.Pro462Arg/c.1385C>G,cCt/cGt,MODERATE,,0.590256,0.5288,rs12508837,0.09(T),"0.999,1.0,0.999(D,D,D)",1.995(M),-0.9530(T),,chr4,129043204,129043204,C,G,het,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro462Arg/c.1385C>G|914|LARP1B|protein_coding|CODING|NM_018078.3|11|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro462Arg/c.1385C>G|522|LARP1B|protein_coding|CODING|NM_178043.2|11|1)","NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7556,0.696,0.6759,0.59,0.46,0.66,,0.000001(D),0.000(P),"1.9,1.44,1.46,1.92,1.89,1.44(T,T,T,T,T,T)",0.0000(T),0.506,2.077054,5.27,2.54,-0.157000,0.335000,1.486000,0.015000,0.995000,0.996000,7.7081
synonymous_variant,LARP1B,SILENT,NM_018078.3:p.Tyr489Tyr/c.1467C>T,taC/taT,LOW,COSM4158794(1),0.590855,0.5288,rs3733320,,,,,,chr4,129043286,129043286,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr489Tyr/c.1467C>T|914|LARP1B|protein_coding|CODING|NM_018078.3|11|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr489Tyr/c.1467C>T|522|LARP1B|protein_coding|CODING|NM_178043.2|11|1)","NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7556,0.696,0.6759,0.59,0.46,0.66,,,,,,,,,,,,,,,,
missense_variant,LARP1B,MISSENSE,NM_018078.3:p.Arg660His/c.1979G>A,cGt/cAt,MODERATE,,0.569489,0.5218,rs12645577,1(T),"0.0,0.0(B,B)",-2.89(N),-0.9178(T),,chr4,129100643,129100643,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg660His/c.1979G>A|914|LARP1B|protein_coding|CODING|NM_018078.3|15|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7556,0.6758,0.6769,0.58,0.41,0.66,,0.000000(N),0.000(P),"2.21,2.18,2.21,1.06(T,T,T,T)",0.0000(T),0.189,-1.087992,4.16,4.16,-0.516000,0.645000,5.071000,0.023000,0.838000,1.000000,9.6091
missense_variant,SCLT1,MISSENSE,NM_144643.3:p.Ser441Cys/c.1321A>T,Agt/Tgt,MODERATE,,0.760184,0.7044,rs10028124,,0.724(P),1.245(L),-1.0199(T),,chr4,129867280,129867280,T,A,hom,missense_variant(MODERATE|MISSENSE|Agt/Tgt|p.Ser441Cys/c.1321A>T|688|SCLT1|protein_coding|CODING|NM_144643.3|16|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.635,0.7637,0.673,0.74,0.91,0.65,,0.273277(N),0.000(P),1.51(T),0.0000(T),0.08,2.867699,4.39,1.5,0.454000,0.594000,0.010000,0.710000,0.999000,0.035000,6.1918
synonymous_variant,SCLT1,SILENT,NM_144643.3:p.Leu115Leu/c.345G>T,ctG/ctT,LOW,COSM1131256(3),0.540136,0.6429,rs3113487,,,,,,chr4,129924977,129924977,C,A,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu115Leu/c.345G>T|688|SCLT1|protein_coding|CODING|NM_144643.3|6|1),,,,,0.7117,0.6081,0.6392,0.54,0.30,0.67,,,,,,,,,,,,,,,,
missense_variant,C4orf33,MISSENSE,NM_001099783.1:p.Met107Val/c.319A>G,Atg/Gtg,MODERATE,COSM1131254(1),0.695088,0.7411,rs337277,1(T),"0.0,0.0(B,B)",-2.075(N),-0.9622(T),,chr4,130030652,130030652,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met107Val/c.319A>G|199|C4orf33|protein_coding|CODING|NM_001099783.1|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met107Val/c.319A>G|199|C4orf33|protein_coding|CODING|NM_173487.2|5|1)","HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9182,0.7305,0.8052,0.70,0.47,0.82,,0.000069(N),1.000(P),"1.42,1.42,1.42(T,T,T)",0.0000(T),0.102,-0.587294,5.61,5.61,-0.119000,1.378000,4.877000,0.409000,0.480000,1.000000,13.7121
missense_variant,C4orf33,MISSENSE,NM_001099783.1:p.His166Arg/c.497A>G,cAt/cGt,MODERATE,,0.0964457,0.0655,rs17351999,0.02(D),0.997(D),2.83(M),-0.9989(T),,chr4,130032843,130032843,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His166Arg/c.497A>G|199|C4orf33|protein_coding|CODING|NM_001099783.1|6|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His166Arg/c.497A>G|199|C4orf33|protein_coding|CODING|NM_173487.2|6|1),splice_region_variant(LOW|||c.497A>G|199|C4orf33|protein_coding|CODING|NM_001099783.1|6|1),splice_region_variant(LOW|||c.497A>G|199|C4orf33|protein_coding|CODING|NM_173487.2|6|1)",,,,,0.1564,0.1311,0.161,0.11,0.03,0.15,,0.000000(D),0.000(P),"0.84,0.84(T,T)",0.0031(T),0.547,3.955322,5.76,5.76,0.528000,2.198000,8.045000,0.627000,1.000000,1.000000,15.0534
synonymous_variant,PCDH18,SILENT,NM_019035.4:p.Leu897Leu/c.2689T>C,Ttg/Ctg,LOW,,0.570487,0.5079,rs10018837,,,,,,chr4,138449683,138449683,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu896Leu/c.2686T>C|1134|PCDH18|protein_coding|CODING|NM_001300828.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu897Leu/c.2689T>C|1135|PCDH18|protein_coding|CODING|NM_019035.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K4me2,IMR90:H3K36me3,IMR90:H3K4me3",,,,0.4356,0.4496,0.4155,0.55,0.80,0.42,,,,,,,,,,,,,,,,
splice_donor_variant,SLC7A11,protein_coding,NM_014331.3:c.1443G>A,,HIGH,,0.913538,1,rs386593325,,,,,SLC7A11:1.00(1);,chr4,139100372,139100372,C,T,hom,"splice_donor_variant(HIGH|||c.1443G>A|501|SLC7A11|protein_coding|CODING|NM_014331.3|11|1),downstream_gene_variant(MODIFIER||1041|||SLC7A11-AS1||NON_CODING|NR_038380.1||1),intron_variant(MODIFIER|||c.1442+1G>A|501|SLC7A11|protein_coding|CODING|NM_014331.3|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,1,0.9755,0.998,0.91,0.74,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A11,SILENT,NM_014331.3:p.Ala224Ala/c.672C>G,gcC/gcG,LOW,,0.342053,0.0764,rs6838248,,,,,,chr4,139140494,139140494,G,C,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala224Ala/c.672C>G|501|SLC7A11|protein_coding|CODING|NM_014331.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4806,0.366,0.5099,0.43,0.32,0.49,,,,,,,,,,,,,,,,
synonymous_variant,ELF2,SILENT,NM_006874.3:p.Ile17Ile/c.51T>C,atT/atC,LOW,COSM4158811(1),0.999002,1,rs4863628,,,,,,chr4,140005294,140005294,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile17Ile/c.51T>C|504|ELF2|protein_coding|CODING|NM_001276457.1|1|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile17Ile/c.51T>C|521|ELF2|protein_coding|CODING|NM_001276458.1|1|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile17Ile/c.51T>C|492|ELF2|protein_coding|CODING|NM_001276459.1|1|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile17Ile/c.51T>C|533|ELF2|protein_coding|CODING|NM_006874.3|1|1),intron_variant(MODIFIER|||c.239-10573T>C|581|ELF2|protein_coding|CODING|NM_201999.2|3|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MAML3,SILENT,NM_018717.4:p.Pro647Pro/c.1941G>A,ccG/ccA,LOW,,0.505391,0.6607,rs11100342,,,,,,chr4,140810637,140810637,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro647Pro/c.1941G>A|1134|MAML3|protein_coding|CODING|NM_018717.4|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.6483,0.5418,0.7237,0.54,0.20,0.71,,,,,,,,,,,,,,,,
synonymous_variant,MAML3,SILENT,NM_018717.4:p.Pro626Pro/c.1878G>A,ccG/ccA,LOW,COSM3760392(2),0.199681,0.124,rs11729794,,,,,,chr4,140810700,140810700,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro626Pro/c.1878G>A|1134|MAML3|protein_coding|CODING|NM_018717.4|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.181,0.2536,0.4642,0.34,0.11,0.46,,,,,,,,,,,,,,,,
synonymous_variant,MAML3,SILENT,NM_018717.4:p.Lys485Lys/c.1455A>G,aaA/aaG,LOW,COSM1427227(1),0.528754,0.6617,rs3733382,,,,,,chr4,140811135,140811135,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys485Lys/c.1455A>G|1134|MAML3|protein_coding|CODING|NM_018717.4|2|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6708,0.5793,0.7823,0.58,0.21,0.77,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D9,SILENT,NM_015130.2:p.His1051His/c.3153C>T,caC/caT,LOW,COSM1427258(1),0.822484,0.6339,rs1560440,,,,,,chr4,141543997,141543997,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1051His/c.3153C>T|1266|TBC1D9|protein_coding|CODING|NM_015130.2|21|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8834,0.8343,0.8062,0.80,0.89,0.76,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D9,SILENT,NM_015130.2:p.Thr508Thr/c.1524G>A,acG/acA,LOW,COSM3760406(1),0.0183706,0,rs61742550,,,,,,chr4,141590135,141590135,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr508Thr/c.1524G>A|1266|TBC1D9|protein_coding|CODING|NM_015130.2|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0216,0.0636,0.05,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,USP38,SILENT,NM_032557.6:p.Arg863Arg/c.2589G>A,agG/agA,LOW,COSM1427305(1),0.726837,0.8194,rs4285045,,,,,,chr4,144135718,144135718,G,A,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg408Arg/c.1224G>A|587|USP38|protein_coding|CODING|NM_001290326.1|10|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg863Arg/c.2589G>A|1042|USP38|protein_coding|CODING|NM_032557.6|9|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg863Arg/c.2589G>A|1004|USP38|protein_coding|CODING|NM_001290325.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5603,0.6744,0.6789,0.72,0.82,0.67,,,,,,,,,,,,,,,,
synonymous_variant,SMARCA5,SILENT,NM_003601.3:p.Leu136Leu/c.406C>T,Cta/Tta,LOW,COSM3760414(1),0.519768,0.744,rs11541117,,,,,,chr4,144442735,144442735,C,T,het,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu136Leu/c.406C>T|1052|SMARCA5|protein_coding|CODING|NM_003601.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4703,0.4251,0.4175,0.46,0.52,0.42,,,,,,,,,,,,,,,,
synonymous_variant,SMARCA5,SILENT,NM_003601.3:p.Asn808Asn/c.2424T>C,aaT/aaC,LOW,,0.990415,1,rs13139128,,,,,,chr4,144467104,144467104,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn808Asn/c.2424T>C|1052|SMARCA5|protein_coding|CODING|NM_003601.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,FREM3,MISSENSE,NM_001168235.1:p.Phe1073Leu/c.3219C>G,ttC/ttG,MODERATE,,0.97504,1,rs1034494,0.82(T),,-0.6(N),-1.0180(T),,chr4,144618610,144618610,G,C,hom,missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe1073Leu/c.3219C>G|2139|FREM3|protein_coding|CODING|NM_001168235.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,1,0.9885,0.999,0.98,0.95,1.00,,0.377255(N),1.000(P),1.18(T),0.0000(T),0.02,-2.086641,4.23,-0.817,-0.120000,-0.227000,-1.139000,0.251000,0.003000,0.000000,5.1615
missense_variant,GYPE,MISSENSE,NM_002102.3:p.Gly13Ala/c.38G>C,gGa/gCa,MODERATE,,0.308906,0.3542,rs1132785,,,,,,chr4,144801662,144801662,C,"G,T",,"missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly13Ala/c.38G>C|78|GYPE|protein_coding|CODING|NM_002102.3|2|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly13Glu/c.38G>A|78|GYPE|protein_coding|CODING|NM_002102.3|2|2),missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly13Ala/c.38G>C|78|GYPE|protein_coding|CODING|NM_198682.2|2|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly13Glu/c.38G>A|78|GYPE|protein_coding|CODING|NM_198682.2|2|2),splice_region_variant(LOW|||c.38G>C|78|GYPE|protein_coding|CODING|NM_002102.3|2|1),splice_region_variant(LOW|||c.38G>A|78|GYPE|protein_coding|CODING|NM_002102.3|2|2),splice_region_variant(LOW|||c.38G>C|78|GYPE|protein_coding|CODING|NM_198682.2|2|1),splice_region_variant(LOW|||c.38G>A|78|GYPE|protein_coding|CODING|NM_198682.2|2|2)","K562:H3K4me1,K562:H3K36me3",,,,0.3067,0.2709,0.2346,,,,,,,,,,,,,,,,,,,
missense_variant,GYPB,MISSENSE,NM_002100.4:p.Ser84Thr/c.251G>C,aGt/aCt,MODERATE,,0.176118,0.2054,rs1132783,,,,,,chr4,144918712,144918712,C,G,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser84Thr/c.251G>C|91|GYPB|protein_coding|CODING|NM_002100.4|4|1),K562:H3K36me3,,,,0.3149,0.1354,0.1839,0.18,0.08,0.23,,,1.000(P),,,.,-0.775236,2.35,-4.16,0.184000,-0.582000,-1.527000,0.043000,0.000000,0.000000,5.1875
synonymous_variant,GYPA,SILENT,NM_002099.6:p.Thr31Thr/c.93T>C,acT/acC,LOW,,0.871406,0.9772,rs4867,,,,,,chr4,145041686,145041686,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr31Thr/c.93T>C|150|GYPA|protein_coding|CODING|NM_002099.6|2|1),"HUVEC:H3K27me3,K562:H3K36me3",,,,0.9969,0.8573,0.9911,0.85,0.57,0.99,,,,,,,,,,,,,,,,
missense_variant,GYPA,MISSENSE,NM_002099.6:p.Glu24Asp/c.72G>T,gaG/gaT,MODERATE,COSM3683233(3),0.200479,0.2371,rs7658293,0.5(T),"0.197,0.034,0.101(B,B,B)",0.55(N),-0.9505(T),,chr4,145041707,145041707,C,A,hom,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu24Asp/c.72G>T|150|GYPA|protein_coding|CODING|NM_002099.6|2|1),"HUVEC:H3K27me3,K562:H3K36me3",,,,0.2311,0.2594,0.1839,,,,,,1.000(P),"4.37,4.37,2.49,3.29(T,T,T,T)",0.0179(T),0.101,-0.415221,2.64,-1.78,-0.935000,-0.309000,0.694000,0.000000,0.000000,0.000000,9.0392
missense_variant,C4orf51,MISSENSE,NM_001080531.1:p.Asp173Asn/c.517G>A,Gat/Aat,MODERATE,,0.0770767,0.001,rs10008599,0(D),0.008(B),0.695(N),-1.0519(T),,chr4,146653620,146653620,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp173Asn/c.517G>A|202|C4orf51|protein_coding|CODING|NM_001080531.1|6|1),"HepG2:H3K4me2,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:H4K5ac,HepG2:H3K27me3",,,,0.0327,0.0778,0.1183,0.12,0.12,0.12,,,1.000(P),,0.0007(T),0.086,3.046140,3.77,-0.356,0.555000,-0.097000,-0.031000,0.016000,0.000000,0.000000,2.3842
missense_variant,POU4F2,MISSENSE,NM_004575.2:p.Ile40Thr/c.119T>C,aTc/aCc,MODERATE,COSM3760418(2),0.105631,0.0446,rs13152799,0.67(T),0.0(B),0(N),-1.0998(T),,chr4,147560411,147560411,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile40Thr/c.119T>C|409|POU4F2|protein_coding|CODING|NM_004575.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.0849,0.0706,0.0974,0.10,0.14,0.08,,0.446434(N),1.000(P),-1.62(D),0.0003(T),0.02,-0.160952,4.79,4.79,-0.215000,1.019000,2.356000,0.192000,1.000000,0.995000,11.0475
missense_variant,TTC29,MISSENSE,NM_001300761.1:p.Ala302Thr/c.904G>A,Gcc/Acc,MODERATE,COSM3760419(1),0.408347,0.4067,rs10013280,0.09(T),"0.863,0.994,0.863(P,D,P)",2.31(M),-1.1596(T),,chr4,147788709,147788709,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala302Thr/c.904G>A|501|TTC29|protein_coding|CODING|NM_001300761.1|9|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala276Thr/c.826G>A|475|TTC29|protein_coding|CODING|NM_031956.2|8|1)",,,,,0.4744,0.3963,0.3022,0.34,0.40,0.31,,0.000000(D),0.000(P),"-1.17,-1.17,-1.17,-1.17(T,T,T,T)",0.0000(T),0.443,3.554978,5.45,5.45,0.591000,2.711000,3.914000,0.066000,0.989000,1.000000,19.6493
synonymous_variant,TTC29,SILENT,NM_001300761.1:p.Asp295Asp/c.885C>T,gaC/gaT,LOW,COSM4002957(1),0.0623003,0.0506,rs35231662,,,,,,chr4,147788728,147788728,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp295Asp/c.885C>T|501|TTC29|protein_coding|CODING|NM_001300761.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp269Asp/c.807C>T|475|TTC29|protein_coding|CODING|NM_031956.2|8|1)",,,,,0.0419,0.1643,0.0457,0.05,0.05,0.05,,,,,,,,,,,,,,,,
missense_variant,TTC29,MISSENSE,NM_001300761.1:p.His166Tyr/c.496C>T,Cat/Tat,MODERATE,COSM3760421(2),0.548123,0.5526,rs17610219,1(T),"0.0,0.0,0.0(B,B,B)",-2.395(N),-0.9403(T),,chr4,147824864,147824864,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His166Tyr/c.496C>T|501|TTC29|protein_coding|CODING|NM_001300761.1|7|1),missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His140Tyr/c.418C>T|475|TTC29|protein_coding|CODING|NM_031956.2|6|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.5583,0.5908,0.3598,0.44,0.58,0.37,,0.000067(N),1.000(P),"2.41,2.41,2.41,2.41(T,T,T,T)",0.0000(T),0.104,-1.746363,5.62,5.62,-0.269000,0.967000,4.637000,0.040000,0.939000,0.997000,10.4294
synonymous_variant,EDNRA,SILENT,NM_001957.3:p.His323His/c.969T>C,caT/caC,LOW,,0.384385,0.2381,rs5333,,,,,,chr4,148461037,148461037,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His214His/c.642T>C|318|EDNRA|protein_coding|CODING|NM_001166055.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His98His/c.294T>C|202|EDNRA|protein_coding|CODING|NM_001256283.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His323His/c.969T>C|427|EDNRA|protein_coding|CODING|NM_001957.3|6|1),non_coding_exon_variant(MODIFIER|||n.1300T>C||EDNRA||CODING|NR_045958.1|5|1)","HUVEC:H3K27me3,IMR90:H3K36me3",,,,0.3742,0.3386,0.2237,0.35,0.55,0.25,,,,,,,,,,,,,,,,
synonymous_variant,EDNRA,SILENT,NM_001957.3:p.Glu335Glu/c.1005G>A,gaG/gaA,LOW,,0.384185,0.2381,rs386598376,,,,,,chr4,148461073,148461073,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu226Glu/c.678G>A|318|EDNRA|protein_coding|CODING|NM_001166055.1|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu110Glu/c.330G>A|202|EDNRA|protein_coding|CODING|NM_001256283.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu335Glu/c.1005G>A|427|EDNRA|protein_coding|CODING|NM_001957.3|6|1),non_coding_exon_variant(MODIFIER|||n.1336G>A||EDNRA||CODING|NR_045958.1|5|1)","HUVEC:H3K27me3,IMR90:H3K36me3",,,,0.3742,0.3372,0.2237,0.35,0.55,0.25,,,,,,,,,,,,,,,,
missense_variant,PRMT9,MISSENSE,NM_138364.2:p.Ala186Thr/c.556G>A,Gca/Aca,MODERATE,,,,,1(T),0.009(B),-1.12(N),-0.9451(T),,chr4,148594808,148594808,C,T,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala186Thr/c.556G>A|845|PRMT9|protein_coding|CODING|NM_138364.2|3|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.000135(N),0.826(N),"1.96,1.96(T,T)",0.0126(T),0.112,0.032190,5.43,1.5,0.655000,0.213000,0.977000,0.986000,0.996000,1.000000,7.7545
synonymous_variant,NR3C2,SILENT,NM_000901.4:p.Asp499Asp/c.1497T>C,gaT/gaC,LOW,,0.891973,0.8542,rs5525,,,,,,chr4,149356516,149356516,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp499Asp/c.1497T>C|984|NR3C2|protein_coding|CODING|NM_000901.4|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp499Asp/c.1497T>C|867|NR3C2|protein_coding|CODING|NM_001166104.1|2|1)","CD4:H3K36me3,HSMM:H3K27me3",,,,0.9049,0.8271,0.9155,0.90,0.91,0.89,,,,,,,,,,,,,,,,
missense_variant,NR3C2,MISSENSE,NM_000901.4:p.Val180Ile/c.538G>A,Gtt/Att,MODERATE,,0.891973,0.8542,rs5522,,"0.0,0.001(B,B)",,-1.0052(T),,chr4,149357475,149357475,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val180Ile/c.538G>A|984|NR3C2|protein_coding|CODING|NM_000901.4|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val180Ile/c.538G>A|867|NR3C2|protein_coding|CODING|NM_001166104.1|2|1)","CD4:H3K36me3,HSMM:H3K27me3",,,,0.9049,0.8271,0.9155,0.90,0.91,0.89,,0.957727(N),1.000(P),"-2.46,-2.46,-2.46,-2.04,-2.07,-2.46(D,D,D,D,D,D)",0.0000(T),0.025,-2.898969,5.38,-3.8,-1.376000,-1.398000,-0.380000,0.110000,0.000000,0.032000,7.6146
missense_variant,DCLK2,MISSENSE,NM_001040261.4:p.Pro765Ser/c.2293C>T,Cct/Tct,MODERATE,COSM4158852(1),0.882788,0.7411,rs13152819,0.96(T),"0.0,0.0,0.0(B,B,B)",-1.245(N),-0.9155(T),,chr4,151177340,151177340,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro748Ser/c.2242C>T|766|DCLK2|protein_coding|CODING|NM_001040260.3|16|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro765Ser/c.2293C>T|783|DCLK2|protein_coding|CODING|NM_001040261.4|17|1),non_coding_exon_variant(MODIFIER|||n.3076C>T||DCLK2||CODING|NR_036614.1|17|1)",IMR90:H3K36me3,,,,0.954,0.9207,0.9642,0.98,0.97,0.99,,0.038167(N),1.000(P),"-0.19,-0.22,-0.22(T,T,T)",0.0000(T),0.07,0.626121,3.97,-7.59,-0.521000,-1.364000,-1.403000,0.010000,0.000000,0.000000,0.7194
missense_variant,DCLK2,MISSENSE,NM_001040261.4:p.Pro765Arg/c.2294C>G,cCt/cGt,MODERATE,COSM4158854(1),0.882788,0.7411,rs13152820,0.67(T),"0.006,0.006,0.003(B,B,B)",0(N),-0.9749(T),,chr4,151177341,151177341,C,G,hom,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro748Arg/c.2243C>G|766|DCLK2|protein_coding|CODING|NM_001040260.3|16|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro765Arg/c.2294C>G|783|DCLK2|protein_coding|CODING|NM_001040261.4|17|1),non_coding_exon_variant(MODIFIER|||n.3077C>G||DCLK2||CODING|NR_036614.1|17|1)",IMR90:H3K36me3,,,,0.954,0.9207,0.9642,0.98,0.97,0.99,,0.038167(N),1.000(P),"-0.23,-0.25,-0.25(T,T,T)",0.0000(T),0.073,0.172466,4.19,-0.0327,-0.357000,-0.861000,-0.648000,0.017000,0.000000,0.000000,8.315
missense_variant,PRSS48,MISSENSE,NM_183375.2:p.Cys53Tyr/c.158G>A,tGt/tAt,MODERATE,COSM1427536(1),0.34345,0.3631,rs36097019,0.03(D),1.0(D),3.7(H),-1.0323(T),,chr4,152201053,152201053,G,A,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys53Tyr/c.158G>A|328|PRSS48|protein_coding|CODING|NM_183375.2|2|1),"K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4264,0.4395,0.4533,0.36,0.19,0.44,,0.003147(N),0.000(P),-0.49(T),0.0000(T),0.696,3.392122,5.2,5.2,0.650000,2.878000,8.650000,0.369000,0.995000,1.000000,16.6282
missense_variant,PRSS48,MISSENSE,NM_183375.2:p.Arg290Cys/c.868C>T,Cgt/Tgt,MODERATE,COSM4158857(1),0.34345,0.3631,rs13126069,0.19(T),"0.121,0.083(B,B)",0(N),-1.0181(T),,chr4,152212486,152212486,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg290Cys/c.868C>T|328|PRSS48|protein_coding|CODING|NM_183375.2|5|1),HepG2:H3K36me3,,,,0.4264,0.4395,0.4533,0.36,0.19,0.43,,0.041516(N),0.989(P),"-2.4,-2.84(D,D)",0.0000(T),0.389,1.365443,4.02,2.29,-1.048000,0.665000,0.796000,0.212000,0.598000,0.751000,5.7265
stop_lost,PRSS48,MISSENSE,NM_183375.2:p.Ter329Gluext*?/c.985T>G,Taa/Gaa,HIGH,,0.779553,0.7411,rs2407221,,,,-1.0381(T),,chr4,152212603,152212603,T,G,hom,stop_lost(HIGH|MISSENSE|Taa/Gaa|p.Ter329Gluext*?/c.985T>G|328|PRSS48|protein_coding|CODING|NM_183375.2|5|1),HepG2:H3K36me3,,,,0.6892,0.866,0.9443,0.90,0.75,0.97,,,1.000(P),,0.0000(T),.,0.955105,3.43,0.679,-0.648000,-0.110000,-0.341000,0.151000,0.003000,0.005000,0.8544
synonymous_variant,FAM160A1,SILENT,NM_001109977.1:p.His43His/c.129C>T,caC/caT,LOW,,0.286142,0.1935,rs17275536,,,,,,chr4,152498625,152498625,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His43His/c.129C>T|1040|FAM160A1|protein_coding|CODING|NM_001109977.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.2924,0.3184,0.341,0.33,0.32,0.33,,,,,,,,,,,,,,,,
missense_variant,TIGD4,MISSENSE,NM_145720.3:p.Ile439Val/c.1315A>G,Ata/Gta,MODERATE,COSM1131225(2),0.694888,0.6974,rs4696354,0.56(T),0.0(B),-0.55(N),-0.9856(T),,chr4,153690842,153690842,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile439Val/c.1315A>G|512|TIGD4|protein_coding|CODING|NM_145720.3|2|1),HUVEC:H3K27me3,,,,0.7505,0.7522,0.6074,0.63,0.67,0.61,,0.854285(N),1.000(P),2.65(T),0.0000(T),0.011,-3.380698,6.17,3.1,-0.119000,0.904000,-0.332000,0.000000,0.001000,0.000000,0.7343
missense_variant,FHDC1,MISSENSE,NM_033393.2:p.Arg639Cys/c.1915C>T,Cgc/Tgc,MODERATE,COSM3721816(3),0.48143,0.5466,rs3811833,0.02(D),0.563(P),2.08(M),-1.0036(T),,chr4,153896358,153896358,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg639Cys/c.1915C>T|1143|FHDC1|protein_coding|CODING|NM_033393.2|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.5072,0.5937,0.7565,0.58,0.23,0.76,,0.763302(N),1.000(P),"1.39,1.39(T,T)",0.0000(T),0.069,3.191286,5.59,3.68,0.563000,2.622000,0.141000,0.003000,0.005000,0.000000,13.8859
synonymous_variant,TRIM2,SILENT,NM_015271.3:p.Thr344Thr/c.1032G>A,acG/acA,LOW,COSM1131224(3),0.455272,0.1786,rs893805,,,,,,chr4,154216710,154216710,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr317Thr/c.951G>A|744|TRIM2|protein_coding|CODING|NM_001130067.1|6|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr344Thr/c.1032G>A|771|TRIM2|protein_coding|CODING|NM_015271.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HMEC:H3K4me1",,,,0.5072,0.4049,0.4563,0.53,0.63,0.48,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0922,SILENT,NM_001131007.1:p.Val179Val/c.537C>T,gtC/gtT,LOW,COSM3760427(1),0.415136,0.5169,rs10001845,,,,,,chr4,154478222,154478222,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val179Val/c.537C>T|1610|KIAA0922|protein_coding|CODING|NM_001131007.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val179Val/c.537C>T|1609|KIAA0922|protein_coding|CODING|NM_015196.3|6|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3773,0.4438,0.1998,0.31,0.49,0.22,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0922,SILENT,NM_001131007.1:p.Arg190Arg/c.570T>C,cgT/cgC,LOW,COSM3760428(1),0.58766,0.5774,rs6848033,,,,,,chr4,154479430,154479430,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg190Arg/c.570T>C|1610|KIAA0922|protein_coding|CODING|NM_001131007.1|7|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg190Arg/c.570T>C|1609|KIAA0922|protein_coding|CODING|NM_015196.3|7|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.6239,0.339,0.50,0.73,0.38,,,,,,,,,,,,,,,,
missense_variant,KIAA0922,MISSENSE,NM_001131007.1:p.Ile605Val/c.1813A>G,Atc/Gtc,MODERATE,COSM3760429(2),0.225639,0.2361,rs7669418,,"0.0,0.0(B,B)",-1.58(N),-0.9370(T),,chr4,154513627,154513627,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile605Val/c.1813A>G|1610|KIAA0922|protein_coding|CODING|NM_001131007.1|18|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile604Val/c.1810A>G|1609|KIAA0922|protein_coding|CODING|NM_015196.3|18|1),splice_region_variant(LOW|||c.1813A>G|1610|KIAA0922|protein_coding|CODING|NM_001131007.1|18|1),splice_region_variant(LOW|||c.1810A>G|1609|KIAA0922|protein_coding|CODING|NM_015196.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.2147,0.3072,0.27,0.18,0.31,,0.000000(N),0.000(P),"2.72,2.73(T,T)",0.0000(T),0.028,-1.540589,4.41,3.55,-0.834000,0.596000,6.044000,0.002000,0.992000,1.000000,10.0083
synonymous_variant,KIAA0922,SILENT,NM_001131007.1:p.His636His/c.1908C>T,caC/caT,LOW,COSM3760430(1),0.225639,0.2361,rs7669741,,,,,,chr4,154513722,154513722,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His636His/c.1908C>T|1610|KIAA0922|protein_coding|CODING|NM_001131007.1|18|1),synonymous_variant(LOW|SILENT|caC/caT|p.His635His/c.1905C>T|1609|KIAA0922|protein_coding|CODING|NM_015196.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.2147,0.3072,0.27,0.18,0.31,,,,,,,,,,,,,,,,
missense_variant,KIAA0922,MISSENSE,NM_001131007.1:p.Met646Thr/c.1937T>C,aTg/aCg,MODERATE,COSM3760431(2),0.226238,0.2371,rs17370297,0.58(T),"0.249,0.066,0.007(B,B,B)",1.01(L),-0.9216(T),,chr4,154514965,154514965,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met646Thr/c.1937T>C|1610|KIAA0922|protein_coding|CODING|NM_001131007.1|19|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met645Thr/c.1934T>C|1609|KIAA0922|protein_coding|CODING|NM_015196.3|19|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.2161,0.3072,0.27,0.18,0.31,,0.011205(N),0.961(P),"2.57,2.29,2.57,2.29(T,T,T,T)",0.0000(T),0.086,-0.530847,5.36,2.94,0.528000,0.442000,0.795000,0.718000,0.821000,0.807000,5.0096
missense_variant,KIAA0922,MISSENSE,NM_001131007.1:p.Thr992Ala/c.2974A>G,Aca/Gca,MODERATE,,0.0267572,0,rs36023829,0.45(T),"0.001,0.002,0.001(B,B,B)",0.205(N),-0.9888(T),,chr4,154525138,154525138,A,G,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr992Ala/c.2974A>G|1610|KIAA0922|protein_coding|CODING|NM_001131007.1|25|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr991Ala/c.2971A>G|1609|KIAA0922|protein_coding|CODING|NM_015196.3|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0143,0.1326,0.0278,0.02,0.01,0.03,,0.886630(N),1.000(N),"2.64,2.38,2.64,2.38(T,T,T,T)",0.0003(T),0.03,-1.148268,5.95,-11.1,-0.256000,-1.600000,-1.707000,0.144000,0.000000,0.000000,7.3454
synonymous_variant,TLR2,SILENT,NM_003264.3:p.Asn199Asn/c.597T>C,aaT/aaC,LOW,COSM4002970(1),0.414736,0.2827,rs3804099,,,,,,chr4,154624656,154624656,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn199Asn/c.597T>C|784|TLR2|protein_coding|CODING|NM_003264.3|3|1),HUVEC:H3K27me3,,,,0.2894,0.3329,0.4354,0.49,0.61,0.44,,,,,,,,,,,,,,,,
missense_variant,RNF175,MISSENSE,NM_173662.2:p.Ile322Asn/c.965T>A,aTc/aAc,MODERATE,,0.963259,1,rs2405432,1(T),0.0(B),-1.18(N),-0.9901(T),,chr4,154631543,154631543,A,T,hom,missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile322Asn/c.965T>A|328|RNF175|protein_coding|CODING|NM_173662.2|9|1),HUVEC:H3K27me3,,,,0.9928,0.9885,0.995,0.97,0.91,0.99,,0.001303(N),0.000(P),2.74(T),0.0000(T),0.275,-1.196984,4.26,3.07,-0.257000,0.409000,2.297000,0.987000,0.993000,1.000000,5.3134
missense_variant,RNF175,MISSENSE,NM_173662.2:p.Leu307Phe/c.921G>C,ttG/ttC,MODERATE,COSM3760437(1),0.0796725,0.004,rs1337,0.17(T),0.728(P),2.58(M),-1.0977(T),,chr4,154631587,154631587,C,G,hom,missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu307Phe/c.921G>C|328|RNF175|protein_coding|CODING|NM_173662.2|9|1),HUVEC:H3K27me3,,,,0.0982,0.147,0.1889,0.15,0.04,0.20,,0.001441(N),0.000(P),1.54(T),0.0001(T),0.212,3.378453,4.26,2.52,0.655000,0.720000,1.070000,0.988000,0.963000,1.000000,3.9719
missense_variant,RNF175,MISSENSE,NM_173662.2:p.Met159Val/c.475A>G,Atg/Gtg,MODERATE,,0.0932508,0.004,rs10517577,0.27(T),"0.222,0.008(B,B)",1.735(L),-1.1252(T),,chr4,154644537,154644537,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met159Val/c.475A>G|328|RNF175|protein_coding|CODING|NM_173662.2|5|1),HUVEC:H3K27me3,,,,0.1196,0.1628,0.2247,0.17,0.04,0.23,,0.000139(N),0.005(P),"-1.08,-1.08,-1.08(T,T,T)",0.0001(T),0.146,2.350213,4.34,0.707,0.455000,0.136000,3.291000,0.935000,0.996000,1.000000,7.4098
synonymous_variant,SFRP2,SILENT,NM_003013.2:p.Pro44Pro/c.132T>G,ccT/ccG,LOW,COSM4158870(1),0.982628,1,rs6535952,,,,,,chr4,154709856,154709856,A,C,hom,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro44Pro/c.132T>G|295|SFRP2|protein_coding|CODING|NM_003013.2|1|1),"H1ESC:PolII,H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DCHS2,SILENT,NM_017639.3:p.Asp2744Asp/c.8232C>T,gaC/gaT,LOW,,0.669529,0.7728,rs7655799,,,,,,chr4,155156207,155156207,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2744Asp/c.8232C>T|2916|DCHS2|protein_coding|CODING|NM_017639.3|25|1),,,,,0.8865,0.6513,0.9105,0.73,0.36,0.92,,,,,,,,,,,,,,,,
missense_variant,DCHS2,MISSENSE,NM_017639.3:p.Glu1595Lys/c.4783G>A,Gag/Aag,MODERATE,COSM3760440(1),0.133786,0.1528,rs28561984,0.83(T),0.001(B),0.625(N),-1.0958(T),,chr4,155219318,155219318,C,T,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1595Lys/c.4783G>A|2916|DCHS2|protein_coding|CODING|NM_017639.3|18|1),HepG2:H3K27me3,,,,0.2372,0.1037,0.172,0.14,0.07,0.18,,0.817476(N),1.000(N),0.13(T),0.0002(T),0.043,1.060925,5.66,0.139,-0.127000,-0.142000,0.438000,0.014000,0.000000,0.000000,3.0954
synonymous_variant,DCHS2,SILENT,NM_017639.3:p.Asp1580Asp/c.4740T>C,gaT/gaC,LOW,COSM3760441(1),0.172324,0.1528,rs17031387,,,,,,chr4,155219361,155219361,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1580Asp/c.4740T>C|2916|DCHS2|protein_coding|CODING|NM_017639.3|18|1),HepG2:H3K27me3,,,,0.2372,0.1138,0.174,0.18,0.18,0.18,,,,,,,,,,,,,,,,
missense_variant,DCHS2,MISSENSE,NM_017639.3:p.Thr1480Arg/c.4439C>G,aCa/aGa,MODERATE,,0.171925,0.1528,rs17031394,0.74(T),0.0(B),-0.24(N),-1.0376(T),,chr4,155219662,155219662,G,C,hom,missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr1480Arg/c.4439C>G|2916|DCHS2|protein_coding|CODING|NM_017639.3|18|1),HepG2:H3K27me3,,,,0.2372,0.1138,0.173,0.18,0.18,0.18,,0.086019(N),1.000(P),2.14(T),0.0000(T),0.083,-0.335762,5.76,-10.2,0.650000,-1.726000,-1.181000,0.481000,0.000000,0.000000,3.735
synonymous_variant,DCHS2,SILENT,NM_017639.3:p.Ser907Ser/c.2721G>A,tcG/tcA,LOW,,0.788938,0.8849,rs13109747,,,,,,chr4,155243573,155243573,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser907Ser/c.2721G>A|2916|DCHS2|protein_coding|CODING|NM_017639.3|13|1),downstream_gene_variant(MODIFIER||233||1369|DCHS2|protein_coding|CODING|NM_001142552.1||1)",,,,,0.9346,0.9135,0.9105,0.78,0.53,0.92,,,,,,,,,,,,,,,,
missense_variant,DCHS2,MISSENSE,NM_017639.3:p.Asn897Ser/c.2690A>G,aAt/aGt,MODERATE,,0.867812,0.8849,rs1352714,0.86(T),0.0(B),-0.975(N),-0.9746(T),,chr4,155243604,155243604,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn897Ser/c.2690A>G|2916|DCHS2|protein_coding|CODING|NM_017639.3|13|1),downstream_gene_variant(MODIFIER||202||1369|DCHS2|protein_coding|CODING|NM_001142552.1||1)",,,,,0.9387,0.9582,0.9811,0.89,0.72,0.98,,0.003446(N),0.000(P),0.75(T),0.0000(T),0.029,0.010324,5.73,2.75,-0.119000,0.059000,-0.021000,0.990000,0.985000,0.721000,6.4962
missense_variant,DCHS2,MISSENSE,NM_001142552.1:p.Pro1342His/c.4025C>A,cCt/cAt,MODERATE,,0.788938,0.8849,rs12500437,0.16(T),0.0(B),,-0.9894(T),,chr4,155244475,155244475,G,T,hom,"missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro1342His/c.4025C>A|1369|DCHS2|protein_coding|CODING|NM_001142552.1|8|1),intron_variant(MODIFIER|||c.2654-835C>A|2916|DCHS2|protein_coding|CODING|NM_017639.3|12|1)",,,,,0.9346,0.9135,0.9105,,,,,,1.000(P),0.3(T),0.0000(T),0.023,0.054247,1.88,-0.914,-4.807000,-2.272000,-0.301000,0.000000,0.000000,0.000000,4.6307
missense_variant,DCHS2,MISSENSE,NM_017639.3:p.Ser344Leu/c.1031C>T,tCg/tTg,MODERATE,,0.986022,1,rs6858712,0.68(T),"0.005,0.001(B,B)",0.245(N),-0.9826(T),,chr4,155256205,155256205,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser843Leu/c.2528C>T|1369|DCHS2|protein_coding|CODING|NM_001142552.1|4|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser344Leu/c.1031C>T|2916|DCHS2|protein_coding|CODING|NM_017639.3|8|1)",NHEK:H3K27me3,,,,1,1,1,0.98,0.95,1.00,,0.074696(N),1.000(P),"0.51,0.62(T,T)",0.0000(T),0.056,-0.465394,6.17,-0.301,-0.302000,-0.036000,0.688000,0.001000,0.000000,0.000000,2.4414
synonymous_variant,DCHS2,SILENT,NM_017639.3:p.Asp13Asp/c.39C>T,gaC/gaT,LOW,COSM3760443(1),0.321486,0.3403,rs62331900,,,,,,chr4,155312411,155312411,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp13Asp/c.39C>T|2916|DCHS2|protein_coding|CODING|NM_017639.3|1|1),intron_variant(MODIFIER|||c.2053-13815C>T|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1)",,,,,0.3793,0.1311,0.1948,0.25,0.39,0.18,,,,,,,,,,,,,,,,
synonymous_variant,DCHS2,SILENT,NM_001142552.1:p.Ser562Ser/c.1686C>T,agC/agT,LOW,,0.580871,0.8333,rs4696593,,,,,,chr4,155410822,155410822,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser562Ser/c.1686C>T|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.5562,0.4971,0.5358,0.52,0.46,0.55,,,,,,,,,,,,,,,,
synonymous_variant,DCHS2,SILENT,NM_001142552.1:p.Asn533Asn/c.1599T>C,aaT/aaC,LOW,,0.113419,0.0109,rs35172627,,,,,,chr4,155410909,155410909,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn533Asn/c.1599T>C|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1299,0.1571,0.2445,0.21,0.10,0.26,,,,,,,,,,,,,,,,
synonymous_variant,DCHS2,SILENT,NM_001142552.1:p.Leu481Leu/c.1443A>G,ctA/ctG,LOW,,0.776558,0.9891,rs7656522,,,,,,chr4,155411065,155411065,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu481Leu/c.1443A>G|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7914,0.8141,0.7505,0.68,0.58,0.73,,,,,,,,,,,,,,,,
synonymous_variant,DCHS2,SILENT,NM_001142552.1:p.Ser468Ser/c.1404T>G,tcT/tcG,LOW,COSM4158878(1),0.916534,1,rs6536016,,,,,,chr4,155411104,155411104,A,C,hom,synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser468Ser/c.1404T>G|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9769,0.999,0.91,0.72,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DCHS2,SILENT,NM_001142552.1:p.Leu287Leu/c.859C>T,Ctg/Ttg,LOW,COSM3760444(2),0.378594,0.1677,rs13130030,,,,,,chr4,155411649,155411649,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu287Leu/c.859C>T|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4448,0.4885,0.4622,,,,,,,,,,,,,,,,,,,
missense_variant,DCHS2,MISSENSE,NM_001142552.1:p.Val190Gly/c.569T>G,gTt/gGt,MODERATE,,0.40615,0.1667,rs17373874,0.87(T),"0.0,0.0(B,B)",,-0.9507(T),,chr4,155411939,155411939,A,C,het,missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val190Gly/c.569T>G|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4479,0.4986,0.4632,0.46,0.50,0.45,,,0.000(P),"0.23,0.23,0.23(T,T,T)",0.0000(T),0.027,-1.759958,4.72,3.81,-0.358000,0.988000,2.713000,0.097000,0.436000,0.480000,8.3588
missense_variant,DCHS2,MISSENSE,NM_001142552.1:p.Arg15Gln/c.44G>A,cGg/cAg,MODERATE,COSM3825422(2),0.372804,0.1647,rs13149269,0.47(T),"0.003,0.003(B,B)",,-1.0939(T),,chr4,155412464,155412464,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg15Gln/c.44G>A|1369|DCHS2|protein_coding|CODING|NM_001142552.1|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4448,0.4885,0.4612,,,,,,1.000(P),"0.33,0.38,0.39(T,T,T)",0.0000(T),0.052,1.450518,5.35,-10.7,-2.548000,-4.157000,-4.236000,0.005000,0.000000,0.000000,5.0984
synonymous_variant,PLRG1,SILENT,NM_002669.3:p.Ile406Ile/c.1218T>A,atT/atA,LOW,COSM3760448(1),0.230631,0.1438,rs7668818,,,,,,chr4,155459194,155459194,A,T,het,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile397Ile/c.1191T>A|505|PLRG1|protein_coding|CODING|NM_001201564.1|13|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile406Ile/c.1218T>A|514|PLRG1|protein_coding|CODING|NM_002669.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.362,0.1888,0.325,0.28,0.18,0.33,,,,,,,,,,,,,,,,
synonymous_variant,PLRG1,SILENT,NM_002669.3:p.Gln344Gln/c.1032A>G,caA/caG,LOW,COSM3760449(1),0.231629,0.1438,rs7671792,,,,,,chr4,155461113,155461113,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln335Gln/c.1005A>G|505|PLRG1|protein_coding|CODING|NM_001201564.1|11|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln344Gln/c.1032A>G|514|PLRG1|protein_coding|CODING|NM_002669.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.362,0.1888,0.325,0.28,0.18,0.33,,,,,,,,,,,,,,,,
synonymous_variant,RBM46,SILENT,NM_144979.4:p.Asn320Asn/c.960T>C,aaT/aaC,LOW,,0.683706,0.747,rs156502,,,,,,chr4,155720274,155720274,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn320Asn/c.960T>C|485|RBM46|protein_coding|CODING|NM_001277171.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn320Asn/c.960T>C|470|RBM46|protein_coding|CODING|NM_001277173.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn320Asn/c.960T>C|533|RBM46|protein_coding|CODING|NM_144979.4|4|1)",HUVEC:H3K27me3,,,,0.5767,0.6787,0.4155,0.56,0.84,0.41,,,,,,,,,,,,,,,,
synonymous_variant,NPY2R,SILENT,NM_000910.2:p.Ile195Ile/c.585C>T,atC/atT,LOW,,0.70028,0.8115,rs1047214,,,,,,chr4,156135676,156135676,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile195Ile/c.585C>T|381|NPY2R|protein_coding|CODING|NM_000910.2|2|1),,,,,0.5634,0.5014,0.5447,0.65,0.87,0.53,,,,,,,,,,,,,,,,
synonymous_variant,NPY2R,SILENT,NM_000910.2:p.Ile312Ile/c.936C>T,atC/atT,LOW,,0.656949,0.7609,rs2880415,,,,,,chr4,156136027,156136027,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile312Ile/c.936C>T|381|NPY2R|protein_coding|CODING|NM_000910.2|2|1),,,,,0.5583,0.4914,0.5447,0.61,0.77,0.53,,,,,,,,,,,,,,,,
missense_variant,MAP9,MISSENSE,NM_001039580.1:p.Asn601Asp/c.1801A>G,Aat/Gat,MODERATE,,0.654153,0.7946,rs2305050,0.83(T),0.001(B),-0.55(N),-1.0132(T),,chr4,156273768,156273768,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn601Asp/c.1801A>G|647|MAP9|protein_coding|CODING|NM_001039580.1|13|1),,,,,0.5194,0.5346,0.5557,0.59,0.72,0.53,,0.589371(N),0.000(P),"2.36,2.34(T,T)",0.0000(T),0.076,-0.220339,5.15,0.287,-1.427000,-0.088000,0.139000,0.961000,0.818000,0.002000,9.4433
synonymous_variant,MAP9,SILENT,NM_001039580.1:p.Val438Val/c.1314G>A,gtG/gtA,LOW,,0.739816,0.9266,rs2341894,,,,,,chr4,156276289,156276289,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val438Val/c.1314G>A|647|MAP9|protein_coding|CODING|NM_001039580.1|10|1),,,,,0.5726,0.5533,0.5616,0.66,0.89,0.54,,,,,,,,,,,,,,,,
synonymous_variant,MAP9,SILENT,NM_001039580.1:p.Leu182Leu/c.546G>A,ttG/ttA,LOW,COSM3760453(2),0.36901,0.6419,rs3733390,,,,,,chr4,156289900,156289900,C,T,hom,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu182Leu/c.546G>A|647|MAP9|protein_coding|CODING|NM_001039580.1|5|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3589,0.3963,0.3549,0.28,0.18,0.32,,,,,,,,,,,,,,,,
missense_variant,MAP9,MISSENSE,NM_001039580.1:p.Arg177Trp/c.529C>T,Cgg/Tgg,MODERATE,COSM1428168(3),0.169529,0.2054,rs3733391,0.04(D),"0.006,0.011,0.011(B,B,B)",2.045(M),-1.0876(T),,chr4,156289917,156289917,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg177Trp/c.529C>T|647|MAP9|protein_coding|CODING|NM_001039580.1|5|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2914,0.1282,0.2406,0.15,0.05,0.21,,0.735941(N),0.184(P),"1.92,1.98,1.17,1.03(T,T,T,T)",0.0001(T),0.256,1.968422,5.06,3.12,0.467000,0.496000,2.687000,0.779000,0.925000,0.995000,6.3104
missense_variant,MAP9,MISSENSE,NM_001039580.1:p.Ser97Pro/c.289T>C,Tca/Cca,MODERATE,,0.000798722,0,rs145507132,0.09(T),"0.049,0.952,0.466,0.466(B,D,P,P)",1.61(L),-1.0857(T),,chr4,156294480,156294480,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser97Pro/c.289T>C|647|MAP9|protein_coding|CODING|NM_001039580.1|4|1),"HUVEC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0,0,0.004,0.00,0.00,0.00,,0.262676(N),0.993(N),"2.94,2.94,2.94,2.94(T,T,T,T)",0.0494(T),0.607,1.632554,5.84,3.26,0.455000,1.017000,0.693000,0.243000,0.978000,0.937000,4.8826
synonymous_variant,GUCY1A3,SILENT,NM_000856.5:p.Lys358Lys/c.1074A>G,aaA/aaG,LOW,,0.979433,1,rs11944673,,,,,,chr4,156632391,156632391,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys358Lys/c.1074A>G|690|GUCY1A3|protein_coding|CODING|NM_000856.5|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys358Lys/c.1074A>G|690|GUCY1A3|protein_coding|CODING|NM_001130682.2|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys358Lys/c.1074A>G|690|GUCY1A3|protein_coding|CODING|NM_001130683.3|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys358Lys/c.1074A>G|690|GUCY1A3|protein_coding|CODING|NM_001130684.2|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys123Lys/c.369A>G|455|GUCY1A3|protein_coding|CODING|NM_001130685.2|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys358Lys/c.1074A>G|624|GUCY1A3|protein_coding|CODING|NM_001130687.2|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys358Lys/c.1074A>G|690|GUCY1A3|protein_coding|CODING|NM_001256449.1|6|1)",,,,,0.999,0.9885,0.9861,0.97,0.95,0.99,,,,,,,,,,,,,,,,
missense_variant,TDO2,MISSENSE,NM_005651.3:p.Asn229His/c.685A>C,Aat/Cat,MODERATE,,0.0111821,0,rs116105292,0.02(D),0.961(D),2.24(M),-0.5282(T),,chr4,156832715,156832715,A,C,het,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn229His/c.685A>C|406|TDO2|protein_coding|CODING|NM_005651.3|7|1),,,,,0.0092,0.0144,0.0348,0.03,0.01,0.05,,0.000000(D),1.000(D),,0.1190(T),0.16,3.146372,5.75,5.75,0.519000,2.192000,9.339000,0.222000,0.105000,1.000000,16.0491
synonymous_variant,GLRB,SILENT,NM_000824.4:p.Thr277Thr/c.831T>C,acT/acC,LOW,,0.979633,1,rs12507409,,,,,,chr4,158065038,158065038,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr277Thr/c.831T>C|497|GLRB|protein_coding|CODING|NM_000824.4|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr277Thr/c.831T>C|497|GLRB|protein_coding|CODING|NM_001166060.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr277Thr/c.831T>C|303|GLRB|protein_coding|CODING|NM_001166061.1|8|1)",,,,,1,0.9942,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GRIA2,SILENT,NM_000826.3:p.His229His/c.687T>C,caT/caC,LOW,COSM1131202(2),0.660144,0.7897,rs4302506,,,,,,chr4,158238830,158238830,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His229His/c.687T>C|883|GRIA2|protein_coding|CODING|NM_000826.3|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His229His/c.687T>C|883|GRIA2|protein_coding|CODING|NM_001083619.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His182His/c.546T>C|836|GRIA2|protein_coding|CODING|NM_001083620.1|5|1)",,,,,0.7331,0.755,0.6252,0.60,0.51,0.65,,,,,,,,,,,,,,,,
synonymous_variant,FAM198B,SILENT,NM_001031700.2:p.Ser362Ser/c.1086G>A,tcG/tcA,LOW,,0.772564,0.9484,rs6830702,,,,,,chr4,159076826,159076826,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser362Ser/c.1086G>A|527|FAM198B|protein_coding|CODING|NM_001031700.2|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser354Ser/c.1062G>A|519|FAM198B|protein_coding|CODING|NM_001128424.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser354Ser/c.1062G>A|519|FAM198B|protein_coding|CODING|NM_016613.6|3|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.8108,0.8602,0.8489,0.75,0.56,0.84,,,,,,,,,,,,,,,,
missense_variant,ETFDH,MISSENSE,NM_004453.3:p.Thr31Ile/c.92C>T,aCa/aTa,MODERATE,COSM4158888(1),0.672724,0.9732,rs11559290,0.47(T),0.005(B),0.69(N),-0.9057(T),,chr4,159601676,159601676,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr31Ile/c.92C>T|617|ETFDH|protein_coding|CODING|NM_004453.3|2|1),upstream_gene_variant(MODIFIER||1584||556|ETFDH|protein_coding|CODING|NM_001281738.1||1),intron_variant(MODIFIER|||c.35-1671C>T|570|ETFDH|protein_coding|CODING|NM_001281737.1|1|1)",HSMM:H3K36me3,,RCV000081080.1,,0.8333,0.7378,0.8638,0.66,0.26,0.86,,0.014614(N),0.000(P),-4.33(D),0.0000(T),0.079,1.513167,5.63,5.63,0.591000,2.818000,1.121000,0.626000,0.724000,0.625000,8.929
missense_variant,PPID,MISSENSE,NM_005038.2:p.Val177Ile/c.529G>A,Gtt/Att,MODERATE,,0.00499201,0,rs61756415,0.28(T),0.002(B),0.7(N),-1.0802(T),,chr4,159636830,159636830,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val177Ile/c.529G>A|370|PPID|protein_coding|CODING|NM_005038.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0043,0.0169,0.01,0.00,0.01,,0.031147(N),0.742(D),1.95(T),0.0153(T),0.087,1.676925,5.41,-4.28,-1.756000,-1.032000,-0.322000,0.932000,0.752000,0.052000,15.4624
missense_variant,C4orf45,MISSENSE,NM_152543.2:p.Gly93Glu/c.278G>A,gGg/gAg,MODERATE,,0.978634,1,rs619128,,0.0(B),-1.61(N),-1.0309(T),,chr4,159894250,159894250,C,T,hom,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly93Glu/c.278G>A|186|C4orf45|protein_coding|CODING|NM_152543.2|2|1),,,,,1,0.9885,1,0.98,0.93,1.00,,0.803942(N),1.000(P),2.67(T),0.0000(T),0.026,-2.882006,5.69,0.268,-2.070000,-0.429000,-0.215000,0.067000,0.010000,0.000000,4.6876
missense_variant,C4orf45,MISSENSE,NM_152543.2:p.Ser75Gly/c.223A>G,Agt/Ggt,MODERATE,,0.98103,1,rs662473,,0.0(B),-2.36(N),-0.9761(T),,chr4,159894305,159894305,T,C,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser75Gly/c.223A>G|186|C4orf45|protein_coding|CODING|NM_152543.2|2|1),,,,,1,0.9914,1,0.98,0.95,1.00,,0.001270(N),1.000(P),2.84(T),0.0000(T),0.074,-1.797549,5.69,4.84,-0.119000,0.753000,0.485000,0.036000,0.371000,0.003000,7.7559
missense_variant,C4orf45,MISSENSE,NM_152543.2:p.Ala46Val/c.137C>T,gCg/gTg,MODERATE,COSM4002983(1),0.154553,0.3333,rs17037864,,0.003(B),1.175(L),-0.9065(T),,chr4,159894391,159894391,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala46Val/c.137C>T|186|C4orf45|protein_coding|CODING|NM_152543.2|2|1),,,,,0.2699,0.0591,0.1322,0.09,0.03,0.12,,0.823032(N),1.000(P),2.45(T),0.0000(T),0.035,-0.056991,5.73,-4.88,-0.345000,-0.952000,-0.894000,0.058000,0.000000,0.000000,7.1752
synonymous_variant,RAPGEF2,SILENT,NM_014247.2:p.Pro1480Pro/c.4440C>T,ccC/ccT,LOW,COSM4158892(1),0.35004,0.0982,rs1135004,,,,,,chr4,160277276,160277276,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1480Pro/c.4440C>T|1499|RAPGEF2|protein_coding|CODING|NM_014247.2|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4162,0.5519,0.5497,0.48,0.26,0.58,,,,,,,,,,,,,,,,
synonymous_variant,FSTL5,SILENT,NM_020116.4:p.Arg795Arg/c.2383C>A,Cgg/Agg,LOW,,0.182109,0.3175,rs17040984,,,,,,chr4,162307060,162307060,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg794Arg/c.2380C>A|846|FSTL5|protein_coding|CODING|NM_001128427.2|16|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg785Arg/c.2353C>A|837|FSTL5|protein_coding|CODING|NM_001128428.2|15|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg795Arg/c.2383C>A|847|FSTL5|protein_coding|CODING|NM_020116.4|16|1)",,,,,0.1994,0.1657,0.2256,0.19,0.07,0.25,,,,,,,,,,,,,,,,
missense_variant,NAF1,MISSENSE,NM_001128931.1:p.Leu385Phe/c.1155A>C,ttA/ttC,MODERATE,,,,,0(D),0.438(B),0(N),-1.0556(T),,chr4,164048146,164048146,T,G,het,"missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu385Phe/c.1155A>C|389|NAF1|protein_coding|CODING|NM_001128931.1|8|1),downstream_gene_variant(MODIFIER||1677||494|NAF1|protein_coding|CODING|NM_138386.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),1.27(T),0.0468(T),0.052,0.222211,0.55,0.55,0.454000,0.464000,0.429000,0.006000,0.007000,0.006000,.
missense_variant,NAF1,MISSENSE,NM_001128931.1:p.Leu368Val/c.1102C>G,Ctt/Gtt,MODERATE,,0.795727,0.7867,rs4691895,0.66(T),0.0(B),0(N),-0.9954(T),,chr4,164048199,164048199,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu368Val/c.1102C>G|389|NAF1|protein_coding|CODING|NM_001128931.1|8|1),downstream_gene_variant(MODIFIER||1624||494|NAF1|protein_coding|CODING|NM_138386.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8425,0.7738,0.7614,0.78,0.80,0.77,,,1.000(P),1.41(T),0.0000(T),0.014,-2.423313,0.55,-0.84,-1.384000,-1.339000,-1.428000,0.020000,0.023000,0.014000,.
missense_variant,NAF1,MISSENSE,NM_138386.2:p.Ile162Val/c.484A>G,Att/Gtt,MODERATE,,0.791534,0.7867,rs111182491,0.3(T),"0.0,0.0(B,B)",-0.805(N),-0.9828(T),,chr4,164085425,164085425,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile162Val/c.484A>G|389|NAF1|protein_coding|CODING|NM_001128931.1|2|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile162Val/c.484A>G|494|NAF1|protein_coding|CODING|NM_138386.2|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2",,,,0.8415,0.7767,0.7614,0.77,0.78,0.77,,0.292353(N),0.999(P),"1.59,1.63(T,T)",0.0000(T),0.004,-1.697623,4.79,-0.137,-1.500000,-0.453000,-1.147000,0.576000,0.921000,0.016000,1.487
missense_variant,TMA16,MISSENSE,NM_018352.2:p.Gln65Pro/c.194A>C,cAa/cCa,MODERATE,COSM149752(4),0.379992,0.3423,rs2304802,0.19(T),0.001(B),1.1(L),-0.9554(T),,chr4,164435265,164435265,A,C,hom,missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln65Pro/c.194A>C|203|TMA16|protein_coding|CODING|NM_018352.2|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3466,0.6009,0.4682,0.41,0.27,0.47,,0.434179(N),1.000(P),"1.53,1.53,1.53,1.53(T,T,T,T)",0.0000(T),0.4,0.449727,5.39,2.96,0.528000,0.978000,1.401000,0.570000,0.068000,0.002000,8.7145
missense_variant,TMA16,MISSENSE,NM_018352.2:p.Ile176Thr/c.527T>C,aTt/aCt,MODERATE,COSM149753(3),0.382588,0.3423,rs1561736,0.79(T),0.001(B),1.1(L),-0.9288(T),,chr4,164440581,164440581,T,C,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile176Thr/c.527T>C|203|TMA16|protein_coding|CODING|NM_018352.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3476,0.6052,0.4742,0.42,0.28,0.48,,0.398357(N),1.000(P),1.99(T),0.0000(T),0.243,-0.427555,5.05,-0.516,0.533000,-0.127000,-0.439000,0.015000,0.000000,0.000000,3.462
synonymous_variant,MARCH1,SILENT,NM_001166373.1:p.Ala165Ala/c.495G>A,gcG/gcA,LOW,COSM4002986(1),0.385982,0.3482,rs13130399,,,,,,chr4,164466824,164466824,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala165Ala/c.495G>A|289|MARCH1|protein_coding|CODING|NM_001166373.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala148Ala/c.444G>A|272|MARCH1|protein_coding|CODING|NM_017923.3|3|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3425,0.6037,0.4583,0.41,0.28,0.47,,,,,,,,,,,,,,,,
missense_variant,ANP32C,MISSENSE,NM_012403.1:p.Glu204Gly/c.611A>G,gAg/gGg,MODERATE,,0.119808,0.1696,rs2288676,,,,,,chr4,165118253,165118253,T,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu204Gly/c.611A>G|234|ANP32C|protein_coding|CODING|NM_012403.1|1|1),intron_variant(MODIFIER|||c.-113-85439A>G|289|MARCH1|protein_coding|CODING|NM_001166373.1|1|1)",,,,,0.2025,0.2147,0.0746,0.05,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TMEM192,SILENT,NM_001100389.1:p.Leu136Leu/c.408C>G,ctC/ctG,LOW,,0.35024,0.3651,rs6536890,,,,,,chr4,166021811,166021811,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu136Leu/c.408C>G|271|TMEM192|protein_coding|CODING|NM_001100389.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2065,0.2334,0.1928,0.32,0.53,0.22,,,,,,,,,,,,,,,,
synonymous_variant,KLHL2,SILENT,NM_001161521.1:p.Leu405Leu/c.1215A>G,ttA/ttG,LOW,,0.325679,0.2956,rs28678193,,,,,,chr4,166231868,166231868,A,G,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu405Leu/c.1215A>G|597|KLHL2|protein_coding|CODING|NM_001161521.1|10|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu313Leu/c.939A>G|505|KLHL2|protein_coding|CODING|NM_001161522.1|9|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu401Leu/c.1203A>G|593|KLHL2|protein_coding|CODING|NM_007246.3|10|1)","GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1708,0.2795,0.4453,0.42,0.40,0.43,,,,,,,,,,,,,,,,
synonymous_variant,MSMO1,SILENT,NM_006745.4:p.Gln277Gln/c.831G>A,caG/caA,LOW,COSM3760469(1),0.0467252,0,rs17585739,,,,,,chr4,166263047,166263047,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln146Gln/c.438G>A|162|MSMO1|protein_coding|CODING|NM_001017369.2|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln277Gln/c.831G>A|293|MSMO1|protein_coding|CODING|NM_006745.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0259,0.0686,0.07,0.08,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TLL1,SILENT,NM_012464.4:p.Leu848Leu/c.2544G>A,ctG/ctA,LOW,,0.90615,0.996,rs2654492,,,,,,chr4,167012381,167012381,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu848Leu/c.2544G>A|1013|TLL1|protein_coding|CODING|NM_012464.4|19|1),,,,,0.9346,0.9467,0.9722,0.90,0.78,0.97,,,,,,,,,,,,,,,,
synonymous_variant,TLL1,SILENT,NM_012464.4:p.Ala881Ala/c.2643T>C,gcT/gcC,LOW,,0.969848,1,rs2646914,,,,,,chr4,167012480,167012480,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala881Ala/c.2643T>C|1013|TLL1|protein_coding|CODING|NM_012464.4|19|1),,,,,1,0.9942,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
stop_retained_variant,SPOCK3,SILENT,NM_016950.2:p.Ter437Ter/c.1310G>A,tGa/tAa,LOW,COSM3760471(1),0.128994,0.001,rs1057377,,,,,,chr4,167656073,167656073,C,T,het,"stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter434Ter/c.1301G>A|433|SPOCK3|protein_coding|CODING|NM_001040159.1|11|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter386Ter/c.1157G>A|385|SPOCK3|protein_coding|CODING|NM_001204352.1|12|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter317Ter/c.950G>A|316|SPOCK3|protein_coding|CODING|NM_001204353.1|10|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter345Ter/c.1034G>A|344|SPOCK3|protein_coding|CODING|NM_001204354.1|10|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter341Ter/c.1022G>A|340|SPOCK3|protein_coding|CODING|NM_001204355.1|9|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter394Ter/c.1181G>A|393|SPOCK3|protein_coding|CODING|NM_001204356.1|10|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter339Ter/c.1016G>A|338|SPOCK3|protein_coding|CODING|NM_001251967.1|8|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter437Ter/c.1310G>A|436|SPOCK3|protein_coding|CODING|NM_016950.2|12|1)",,,,,0.2975,0.1167,0.2565,0.19,0.04,0.27,,,,,,,,,,,,,,,,
missense_variant,SPOCK3,MISSENSE,NM_001204355.1:p.Leu10Pro/c.29T>C,cTc/cCc,MODERATE,,0.0591054,0,rs11557043,0.02(D),,,-0.9872(T),,chr4,168155178,168155178,A,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu10Pro/c.29T>C|340|SPOCK3|protein_coding|CODING|NM_001204355.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser49Ser/c.147T>C|433|SPOCK3|protein_coding|CODING|NM_001040159.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser49Ser/c.147T>C|393|SPOCK3|protein_coding|CODING|NM_001204356.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser49Ser/c.147T>C|313|SPOCK3|protein_coding|CODING|NM_001204358.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser49Ser/c.147T>C|338|SPOCK3|protein_coding|CODING|NM_001251967.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser49Ser/c.147T>C|436|SPOCK3|protein_coding|CODING|NM_016950.2|2|1),5_prime_UTR_variant(MODIFIER||114189|c.-79T>C|385|SPOCK3|protein_coding|CODING|NM_001204352.1|2|1),5_prime_UTR_variant(MODIFIER||321285|c.-90T>C|316|SPOCK3|protein_coding|CODING|NM_001204353.1|2|1),5_prime_UTR_variant(MODIFIER||233596|c.-75T>C|344|SPOCK3|protein_coding|CODING|NM_001204354.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,GM12878:BATF,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,NH-A:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,GM12878:Tcf12",,,,0.0184,0.0432,0.0934,0.11,0.12,0.10,,,0.000(P),0.96(T),0.0018(T),.,-0.073897,4.19,-4.2,-0.695000,-0.539000,0.675000,0.012000,0.978000,1.000000,6.1537
missense_variant,ANXA10,MISSENSE,NM_007193.4:p.Met71Leu/c.211A>C,Atg/Ctg,MODERATE,COSM149755(2),0.533147,0.2431,rs6836994,1(T),0.0(B),-2.7(N),-1.0177(T),,chr4,169083694,169083694,A,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met71Leu/c.211A>C|324|ANXA10|protein_coding|CODING|NM_007193.4|4|1),,,,,0.5297,0.4697,0.5944,0.63,0.71,0.58,,0.000032(N),1.000(P),3.88(T),0.0000(T),0.069,-1.511852,5.2,2.56,-0.883000,0.058000,1.619000,0.304000,0.522000,1.000000,6.4784
synonymous_variant,ANXA10,SILENT,NM_007193.4:p.Ser148Ser/c.444A>G,tcA/tcG,LOW,COSM149756(1),0.532947,0.2421,rs4405979,,,,,,chr4,169086441,169086441,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser148Ser/c.444A>G|324|ANXA10|protein_coding|CODING|NM_007193.4|6|1),,,,,0.5297,0.4697,0.5934,0.63,0.71,0.58,,,,,,,,,,,,,,,,
synonymous_variant,DDX60,SILENT,NM_017631.5:p.Gly1459Gly/c.4377A>C,ggA/ggC,LOW,,0.197085,0.1329,rs6552559,,,,,,chr4,169158471,169158471,T,G,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1459Gly/c.4377A>C|1712|DDX60|protein_coding|CODING|NM_017631.5|32|1),CD4:H3K36me3,,,,0.044,0.2378,0.0666,0.17,0.38,0.06,,,,,,,,,,,,,,,,
synonymous_variant,DDX60,SILENT,NM_017631.5:p.Val1453Val/c.4359C>G,gtC/gtG,LOW,COSM3683250(1),0.0754792,0.1319,rs3828560,,,,,,chr4,169158489,169158489,G,C,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val1453Val/c.4359C>G|1712|DDX60|protein_coding|CODING|NM_017631.5|32|1),CD4:H3K36me3,,,,0.0378,0.2003,0.0646,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,DDX60,SILENT,NM_017631.5:p.Val1439Val/c.4317A>G,gtA/gtG,LOW,COSM3683251(1),0.0754792,0.1319,rs3805396,,,,,,chr4,169158531,169158531,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1439Val/c.4317A>G|1712|DDX60|protein_coding|CODING|NM_017631.5|32|1),CD4:H3K36me3,,,,0.0378,0.2003,0.0646,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,DDX60,MISSENSE,NM_017631.5:p.Ile998Val/c.2992A>G,Att/Gtt,MODERATE,,0.0810703,0,rs386599899,0.52(T),0.002(B),0.435(N),-0.9395(T),,chr4,169188780,169188780,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile998Val/c.2992A>G|1712|DDX60|protein_coding|CODING|NM_017631.5|22|1),"CD4:H3K36me3,NHEK:H3K36me3",,,,0.0542,0.085,0.0994,0.09,0.12,0.08,,0.511818(N),1.000(P),2.32(T),0.0001(T),0.122,0.319347,5.22,-5.7,0.460000,-0.772000,-0.237000,0.004000,0.000000,0.001000,7.5868
missense_variant,DDX60,MISSENSE,NM_017631.5:p.Val672Met/c.2014G>A,Gtg/Atg,MODERATE,COSM4002991(1),0.133387,0.12,rs386598875,0.9(T),0.001(B),-1.79(N),-0.9703(T),,chr4,169197297,169197297,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val672Met/c.2014G>A|1712|DDX60|protein_coding|CODING|NM_017631.5|15|1),"HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.0481,0.1671,0.0815,0.11,0.19,0.06,,0.015411(N),1.000(P),2.12(T),0.0000(T),0.017,-1.224366,5.15,2.67,-0.381000,0.353000,-0.133000,0.730000,0.857000,0.016000,1.8745
missense_variant,DDX60,MISSENSE,NM_017631.5:p.Asp402Asn/c.1204G>A,Gat/Aat,MODERATE,,0.0219649,0.001,rs72693161,0.37(T),0.004(B),1.3(L),-0.9835(T),,chr4,169208334,169208334,C,T,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp402Asn/c.1204G>A|1712|DDX60|protein_coding|CODING|NM_017631.5|10|1),HSMM:H3K36me3,,,,0.0276,0.0317,0.0557,0.03,0.01,0.05,,0.865043(N),1.000(N),2.26(T),0.0035(T),0.005,0.933698,4.72,-4.83,-0.373000,-1.071000,-0.555000,0.504000,0.004000,0.000000,7.3402
missense_variant,DDX60L,MISSENSE,NM_001012967.2:p.Glu1222Asp/c.3666G>T,gaG/gaT,MODERATE,COSM4158897(1),0.874002,0.9018,rs3749499,0.31(T),"0.001,0.001(B,B)",0.83(L),-0.9619(T),,chr4,169315760,169315760,C,A,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1222Asp/c.3666G>T|1706|DDX60L|protein_coding|CODING|NM_001012967.2|28|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1223Asp/c.3669G>T|1308|DDX60L|protein_coding|CODING|NM_001291510.1|28|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.9305,0.9726,0.998,0.91,0.73,0.99,,0.155051(N),1.000(P),"-0.53,-0.53,-2.84(T,T,D)",0.0000(T),0.102,0.163093,3.3,-2.05,-0.539000,-0.771000,-0.332000,0.001000,0.000000,0.000000,1.8165
synonymous_variant,DDX60L,SILENT,NM_001012967.2:p.Lys1041Lys/c.3123G>A,aaG/aaA,LOW,COSM4002994(2),0.326677,0.4048,rs3762856,,,,,,chr4,169327191,169327191,C,T,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1041Lys/c.3123G>A|1706|DDX60L|protein_coding|CODING|NM_001012967.2|24|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1041Lys/c.3123G>A|1308|DDX60L|protein_coding|CODING|NM_001291510.1|24|1)","HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.4305,0.2867,0.3489,0.28,0.20,0.31,,,,,,,,,,,,,,,,
missense_variant,DDX60L,MISSENSE,NM_001012967.2:p.Tyr959Cys/c.2876A>G,tAt/tGt,MODERATE,,1,1,rs4692661,0.12(T),"0.059,0.117,0.059(B,B,B)",1.04(L),-1.0486(T),,chr4,169336662,169336662,T,C,hom,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr959Cys/c.2876A>G|1706|DDX60L|protein_coding|CODING|NM_001012967.2|22|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr959Cys/c.2876A>G|1308|DDX60L|protein_coding|CODING|NM_001291510.1|22|1)","HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,1,1,1,,,,,0.255480(N),1.000(P),"2.09,2.09,2.09,2.76(T,T,T,T)",0.0000(T),0.305,-0.536382,3.08,0.475,-0.642000,-0.563000,2.439000,0.003000,0.145000,0.029000,8.6641
missense_variant,DDX60L,MISSENSE,NM_001012967.2:p.Cys831Arg/c.2491T>C,Tgt/Cgt,MODERATE,,0.985024,1,rs2130145,1(T),"0.0,0.0,0.0(B,B,B)",-2.58(N),-1.0043(T),,chr4,169341435,169341435,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys831Arg/c.2491T>C|1706|DDX60L|protein_coding|CODING|NM_001012967.2|18|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys831Arg/c.2491T>C|1308|DDX60L|protein_coding|CODING|NM_001291510.1|18|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,1,0.9942,0.998,0.98,0.95,1.00,,0.455673(N),1.000(P),"2.59,2.59,2.59,1.41(T,T,T,T)",0.0000(T),0.322,-1.745034,3.49,1.53,-0.349000,0.140000,1.179000,0.002000,0.001000,0.031000,6.3806
missense_variant,DDX60L,MISSENSE,NM_001012967.2:p.Val754Ala/c.2261T>C,gTg/gCg,MODERATE,,0.0992412,0.0129,rs61740705,0.31(T),"0.562,0.164,0.562(P,B,P)",-0.09(N),-0.9996(T),,chr4,169343044,169343044,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val754Ala/c.2261T>C|1706|DDX60L|protein_coding|CODING|NM_001012967.2|17|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val754Ala/c.2261T>C|1308|DDX60L|protein_coding|CODING|NM_001291510.1|17|1)","HUVEC:PolII,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:Cjun,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,K562:Junb,HUVEC:Cmyc,HUVEC:H3K4me2,CD4:H3K36me3,K562:Cjun,NHEK:H3K36me3,CD4:H4K5ac,HUVEC:FAIRE,HUVEC:H3K4me1,HUVEC:H3K27ac,HMEC:DNase1,NHEK:DNase1,K562:DNase1,K562:Jund",,,,0.1922,0.0893,0.2177,0.14,0.04,0.19,,0.071266(U),0.999(P),"2.57,2.57,1.48,1.48(T,T,T,T)",0.0000(T),0.221,1.604186,3.96,3.96,0.383000,1.430000,2.887000,0.590000,0.567000,0.998000,8.5222
missense_variant,DDX60L,MISSENSE,NM_001012967.2:p.Val409Leu/c.1225G>C,Gtt/Ctt,MODERATE,COSM4158898(1),0.334265,0.6141,rs13151700,0.74(T),"0.065,0.048,0.065(B,B,B)",2.015(M),-1.0259(T),,chr4,169362557,169362557,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val409Leu/c.1225G>C|1706|DDX60L|protein_coding|CODING|NM_001012967.2|10|1),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val409Leu/c.1225G>C|1308|DDX60L|protein_coding|CODING|NM_001291510.1|10|1)","H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,NHEK:DNase1",,,,0.2955,0.5159,0.3439,0.26,0.10,0.33,,0.120809(U),0.999(P),"2.22,2.22,2.21,2.86(T,T,T,T)",0.0000(T),0.248,1.574833,3.1,3.1,0.313000,1.411000,3.471000,0.024000,0.808000,0.993000,9.9765
synonymous_variant,DDX60L,SILENT,NM_001012967.2:p.Ile369Ile/c.1107A>T,atA/atT,LOW,,0.823882,0.9087,rs2712113,,,,,,chr4,169369820,169369820,T,A,hom,"synonymous_variant(LOW|SILENT|atA/atT|p.Ile369Ile/c.1107A>T|1706|DDX60L|protein_coding|CODING|NM_001012967.2|9|1),synonymous_variant(LOW|SILENT|atA/atT|p.Ile369Ile/c.1107A>T|1308|DDX60L|protein_coding|CODING|NM_001291510.1|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.8313,0.8242,0.8022,0.78,0.77,0.79,,,,,,,,,,,,,,,,
synonymous_variant,DDX60L,SILENT,NM_001012967.2:p.Ser358Ser/c.1074T>A,tcT/tcA,LOW,,0.739617,0.9087,rs2712114,,,,,,chr4,169369853,169369853,A,T,hom,"synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser358Ser/c.1074T>A|1706|DDX60L|protein_coding|CODING|NM_001012967.2|9|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser358Ser/c.1074T>A|1308|DDX60L|protein_coding|CODING|NM_001291510.1|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.8313,0.7896,0.7992,0.70,0.53,0.78,,,,,,,,,,,,,,,,
missense_variant,DDX60L,MISSENSE,NM_001012967.2:p.Cys336Tyr/c.1007G>A,tGt/tAt,MODERATE,,0.328474,0.619,rs12507582,0(D),"0.999,0.999,0.999(D,D,D)",2.08(M),-0.9541(T),,chr4,169369920,169369920,C,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys336Tyr/c.1007G>A|1706|DDX60L|protein_coding|CODING|NM_001012967.2|9|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys336Tyr/c.1007G>A|1308|DDX60L|protein_coding|CODING|NM_001291510.1|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.2965,0.5159,0.3429,0.25,0.07,0.33,,0.001276(U),0.989(P),"1.75,1.75,1.76,2.41(T,T,T,T)",0.0000(T),0.386,2.402486,2.46,2.46,0.467000,1.346000,3.413000,0.881000,0.966000,1.000000,9.9101
synonymous_variant,DDX60L,SILENT,NM_001012967.2:p.Thr155Thr/c.465G>T,acG/acT,LOW,,0.0802716,0.0109,rs17612630,,,,,,chr4,169382991,169382991,C,A,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr155Thr/c.465G>T|1706|DDX60L|protein_coding|CODING|NM_001012967.2|5|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr155Thr/c.465G>T|1308|DDX60L|protein_coding|CODING|NM_001291510.1|5|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.1401,0.0648,0.1948,0.13,0.03,0.18,,,,,,,,,,,,,,,,
missense_variant,CBR4,MISSENSE,NM_032783.4:p.Leu70Met/c.208C>A,Ctg/Atg,MODERATE,,0.720048,0.9712,rs2877380,,0.004(B),1.355(L),-0.9509(T),,chr4,169928842,169928842,G,T,hom,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu70Met/c.208C>A|237|CBR4|protein_coding|CODING|NM_032783.4|2|1),"K562:H3K36me3,HMEC:H3K36me3",,,,0.8057,0.7032,0.7903,0.67,0.48,0.76,,0.000002(N),1.000(P),"-2.46,-2.46,-2.46(D,D,D)",0.0000(T),0.094,2.616757,5.56,5.56,-0.346000,0.944000,3.215000,0.904000,1.000000,1.000000,12.9258
synonymous_variant,NEK1,SILENT,NM_001199397.1:p.Pro1011Pro/c.3033G>A,ccG/ccA,LOW,,0.0994409,0.0308,rs7655924,,,,,,chr4,170345893,170345893,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1011Pro/c.3033G>A|1286|NEK1|protein_coding|CODING|NM_001199397.1|31|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro967Pro/c.2901G>A|1242|NEK1|protein_coding|CODING|NM_001199398.1|30|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro914Pro/c.2742G>A|1189|NEK1|protein_coding|CODING|NM_001199399.1|28|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro939Pro/c.2817G>A|1214|NEK1|protein_coding|CODING|NM_001199400.1|28|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro983Pro/c.2949G>A|1258|NEK1|protein_coding|CODING|NM_012224.2|29|1)","K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1094,0.0476,0.0706,0.09,0.15,0.06,,,,,,,,,,,,,,,,
synonymous_variant,NEK1,SILENT,NM_001199397.1:p.Glu610Glu/c.1830A>G,gaA/gaG,LOW,,0.0505192,0.0308,rs17544885,,,,,,chr4,170429402,170429402,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu610Glu/c.1830A>G|1286|NEK1|protein_coding|CODING|NM_001199397.1|21|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu566Glu/c.1698A>G|1242|NEK1|protein_coding|CODING|NM_001199398.1|20|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu513Glu/c.1539A>G|1189|NEK1|protein_coding|CODING|NM_001199399.1|18|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu538Glu/c.1614A>G|1214|NEK1|protein_coding|CODING|NM_001199400.1|18|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu582Glu/c.1746A>G|1258|NEK1|protein_coding|CODING|NM_012224.2|19|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,RCV000081534.1,,0.0225,0.0403,0.0686,0.06,0.07,0.05,,,,,,,,,,,,,,,,
missense_variant,CLCN3,MISSENSE,NM_001243374.1:p.Ser17Asn/c.50G>A,aGt/aAt,MODERATE,,0.97484,1,rs4692739,0.54(T),0.0(B),,-0.9544(T),,chr4,170581570,170581570,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser17Asn/c.50G>A|791|CLCN3|protein_coding|CODING|NM_001243374.1|1|1),intron_variant(MODIFIER|||c.161-19631G>A|791|CLCN3|protein_coding|CODING|NM_001243372.1|2|1),intron_variant(MODIFIER|||c.161-19631G>A|818|CLCN3|protein_coding|CODING|NM_001829.3|2|1),intron_variant(MODIFIER|||c.161-19631G>A|866|CLCN3|protein_coding|CODING|NM_173872.3|2|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,GM12878:EBF,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,1,0.9914,0.998,,,,,,0.983(P),-2.33(D),0.0000(T),0.039,0.625005,5.37,-8.47,-1.204000,-2.224000,-0.903000,0.896000,0.131000,0.041000,18.25
synonymous_variant,CLCN3,SILENT,NM_173872.3:p.Arg776Arg/c.2328A>G,cgA/cgG,LOW,,0.170527,0.0317,rs1010713,,,,,,chr4,170634408,170634408,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg749Arg/c.2247A>G|791|CLCN3|protein_coding|CODING|NM_001243372.1|11|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg749Arg/c.2247A>G|791|CLCN3|protein_coding|CODING|NM_001243374.1|11|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg776Arg/c.2328A>G|818|CLCN3|protein_coding|CODING|NM_001829.3|12|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg776Arg/c.2328A>G|866|CLCN3|protein_coding|CODING|NM_173872.3|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1339,0.0764,0.0895,0.19,0.39,0.09,,,,,,,,,,,,,,,,
missense_variant,C4orf27,MISSENSE,NM_017867.2:p.Arg174Lys/c.521G>A,aGa/aAa,MODERATE,,0.789537,0.9087,rs1047642,1(T),0.0(B),-2.365(N),-0.9635(T),,chr4,170663235,170663235,C,T,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg174Lys/c.521G>A|346|C4orf27|protein_coding|CODING|NM_017867.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.7546,0.8473,0.8191,0.78,0.71,0.82,,0.000000(N),1.000(P),1.21(T),0.0000(T),0.021,-1.350096,4.63,4.63,-0.360000,0.739000,3.669000,0.009000,1.000000,1.000000,10.439
synonymous_variant,C4orf27,SILENT,NM_017867.2:p.Gly12Gly/c.36A>G,ggA/ggG,LOW,COSM3749861(10),0.777356,0.881,rs11540095,,,,,,chr4,170678993,170678993,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly12Gly/c.36A>G|346|C4orf27|protein_coding|CODING|NM_017867.2|1|1),"H1ESC:PolII,CD4:H2AZ,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,HepG2:Srf,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,HeLa-S3:Tr4,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4",,,,0.7689,0.7954,0.7843,0.78,0.71,0.81,,,,,,,,,,,,,,,,
missense_variant,CEP44,MISSENSE,NM_001145314.1:p.Gly147Ser/c.439G>A,Ggc/Agc,MODERATE,COSM4002999(1),0.440296,0.1597,rs4695918,1(T),"0.0,0.0(B,B)",-0.69(N),-0.9163(T),,chr4,175225452,175225452,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly147Ser/c.439G>A|390|CEP44|protein_coding|CODING|NM_001040157.2|6|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly147Ser/c.439G>A|399|CEP44|protein_coding|CODING|NM_001145314.1|6|1)","NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.5153,0.3184,0.5477,0.55,0.57,0.54,,0.380212(N),1.000(P),"1.08,1.05,1.07,1.05,1.08(T,T,T,T,T)",0.0000(T),0.01,-1.935401,5.01,0.671,-1.390000,-0.181000,-0.070000,0.001000,0.000000,0.000000,8.8488
synonymous_variant,CEP44,SILENT,NM_001145314.1:p.Thr351Thr/c.1053T>C,acT/acC,LOW,COSM149763(2),0.686502,0.744,rs1553669,,,,,,chr4,175237408,175237408,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr351Thr/c.1053T>C|390|CEP44|protein_coding|CODING|NM_001040157.2|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr351Thr/c.1053T>C|399|CEP44|protein_coding|CODING|NM_001145314.1|10|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.6442,0.5605,0.7366,0.72,0.70,0.73,,,,,,,,,,,,,,,,
synonymous_variant,GLRA3,SILENT,NM_006529.3:p.Ser274Ser/c.822A>G,tcA/tcG,LOW,,0.976438,1,rs6812439,,,,,,chr4,175598334,175598334,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser274Ser/c.822A>G|449|GLRA3|protein_coding|CODING|NM_001042543.2|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser274Ser/c.822A>G|464|GLRA3|protein_coding|CODING|NM_006529.3|7|1)",,,,,1,0.9942,0.999,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GLRA3,SILENT,NM_006529.3:p.Phe81Phe/c.243T>C,ttT/ttC,LOW,COSM3760485(1),0.790735,0.998,rs7696263,,,,,,chr4,175688138,175688138,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe81Phe/c.243T>C|449|GLRA3|protein_coding|CODING|NM_001042543.2|3|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe81Phe/c.243T>C|464|GLRA3|protein_coding|CODING|NM_006529.3|3|1)",,,,,0.8313,0.7305,0.7445,0.68,0.67,0.68,,,,,,,,,,,,,,,,
synonymous_variant,GLRA3,SILENT,NM_006529.3:p.Ser80Ser/c.240C>T,agC/agT,LOW,COSM3760486(2),0.338658,0.5198,rs12651268,,,,,,chr4,175688141,175688141,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser80Ser/c.240C>T|449|GLRA3|protein_coding|CODING|NM_001042543.2|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser80Ser/c.240C>T|464|GLRA3|protein_coding|CODING|NM_006529.3|3|1)",,,,,0.4325,0.3242,0.3708,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,WDR17,MISSENSE,NM_170710.4:p.Ala814Thr/c.2440G>A,Gct/Act,MODERATE,,0.975839,1,rs4690661,0.9(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-0.9503(T),,chr4,177073026,177073026,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala814Thr/c.2440G>A|1322|WDR17|protein_coding|CODING|NM_170710.4|18|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala790Thr/c.2368G>A|1283|WDR17|protein_coding|CODING|NM_181265.3|17|1)",,,,,1,0.987,0.998,0.98,0.94,1.00,,0.000000(N),1.000(P),"0.51,0.54,0.49(T,T,T)",0.0000(T),0.149,0.629148,5.55,5.55,-0.391000,0.952000,5.877000,0.352000,0.558000,1.000000,11.6431
synonymous_variant,SPATA4,SILENT,NM_144644.2:p.Tyr170Tyr/c.510T>C,taT/taC,LOW,COSM4003002(1),0.226238,0.381,rs2291244,,,,,,chr4,177113956,177113956,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr170Tyr/c.510T>C|305|SPATA4|protein_coding|CODING|NM_144644.2|4|1),"NHEK:H3K27ac,GM12878:H3K27me3",,,,0.2566,0.1614,0.1769,0.17,0.17,0.17,,,,,,,,,,,,,,,,
synonymous_variant,NEIL3,SILENT,NM_018248.2:p.Pro252Pro/c.756T>C,ccT/ccC,LOW,,0.145367,0.1091,rs17676249,,,,,,chr4,178262683,178262683,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro252Pro/c.756T>C|605|NEIL3|protein_coding|CODING|NM_018248.2|6|1),"K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.137,0.1268,0.2048,0.20,0.17,0.21,,,,,,,,,,,,,,,,
synonymous_variant,NEIL3,SILENT,NM_018248.2:p.Arg381Arg/c.1143A>G,agA/agG,LOW,COSM3760494(1),0.609026,0.376,rs2048074,,,,,,chr4,178274565,178274565,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg381Arg/c.1143A>G|605|NEIL3|protein_coding|CODING|NM_018248.2|8|1),"HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5777,0.634,0.7753,0.74,0.70,0.76,,,,,,,,,,,,,,,,
synonymous_variant,NEIL3,SILENT,NM_018248.2:p.Val424Val/c.1272T>G,gtT/gtG,LOW,COSM3760495(1),0.542532,0.376,rs10007075,,,,,,chr4,178274694,178274694,T,G,hom,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val424Val/c.1272T>G|605|NEIL3|protein_coding|CODING|NM_018248.2|8|1),"HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.6138,0.7644,0.67,0.50,0.75,,,,,,,,,,,,,,,,
missense_variant,NEIL3,MISSENSE,NM_018248.2:p.Pro443Leu/c.1328C>T,cCa/cTa,MODERATE,COSM3760496(1),0.608826,0.376,rs13112358,0.75(T),0.001(B),-0.37(N),-0.9996(T),,chr4,178274750,178274750,C,T,hom,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro443Leu/c.1328C>T|605|NEIL3|protein_coding|CODING|NM_018248.2|8|1),"HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5767,0.634,0.7744,0.74,0.70,0.76,,0.822207(N),1.000(P),3.84(T),0.0000(T),0.007,-1.112783,5.09,-4.99,-0.381000,-1.227000,-0.514000,0.102000,0.001000,0.000000,16.9409
missense_variant,NEIL3,MISSENSE,NM_018248.2:p.Gln471His/c.1413A>C,caA/caC,MODERATE,COSM1131168(1),0.66254,0.4474,rs13112390,0.82(T),0.0(B),-1.905(N),-1.0628(T),,chr4,178274835,178274835,A,C,hom,missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln471His/c.1413A>C|605|NEIL3|protein_coding|CODING|NM_018248.2|8|1),"HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6411,0.7089,0.8022,0.77,0.73,0.79,,0.000290(N),1.000(P),3.81(T),0.0000(T),0.052,-1.250706,3.8,-1.15,-0.224000,-0.566000,-0.182000,0.040000,0.003000,0.002000,1.4023
missense_variant,NEIL3,MISSENSE,NM_018248.2:p.Gly520Arg/c.1558G>A,Ggg/Agg,MODERATE,,0.931909,0.9663,rs1876268,1(T),0.0(B),-2.305(N),-0.9769(T),,chr4,178281754,178281754,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly520Arg/c.1558G>A|605|NEIL3|protein_coding|CODING|NM_018248.2|9|1),"K562:H3K36me3,NHEK:H3K36me3",,,,0.8906,0.951,0.9742,0.95,0.91,0.97,,0.000173(N),1.000(P),2.24(T),0.0000(T),0.172,-1.033400,5.94,4.74,-0.361000,0.484000,2.944000,0.250000,1.000000,1.000000,9.0106
missense_variant,AGA,MISSENSE,NM_000027.3:p.Thr149Ser/c.446C>G,aCt/aGt,MODERATE,,0.920927,1,rs2228119,,,-1.275(N),-0.9728(T),,chr4,178359960,178359960,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr149Ser/c.446C>G|346|AGA|protein_coding|CODING|NM_000027.3|4|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr149Ser/c.446C>G|336|AGA|protein_coding|CODING|NM_001171988.1|4|1),non_coding_exon_variant(MODIFIER|||n.574C>G||AGA||CODING|NR_033655.1|4|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000077944.1,,1,0.9741,0.999,0.93,0.78,1.00,,,1.000(P),,0.0000(T),.,-1.461157,5.65,-4.65,-1.093000,-1.516000,-0.155000,0.052000,0.000000,0.001000,9.1888
synonymous_variant,TENM3,SILENT,NM_001080477.2:p.Gly259Gly/c.777T>G,ggT/ggG,LOW,,0.0846645,0.1359,rs74199039,,,,,,chr4,183549831,183549831,T,G,het,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly259Gly/c.777T>G|2699|TENM3|protein_coding|CODING|NM_001080477.2|4|1),NHEK:H3K36me3,,,,0.1421,0.0677,0.0785,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,TENM3,SILENT,NM_001080477.2:p.Pro399Pro/c.1197T>C,ccT/ccC,LOW,,0.00199681,0,rs192736990,,,,,,chr4,183594243,183594243,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro399Pro/c.1197T>C|2699|TENM3|protein_coding|CODING|NM_001080477.2|6|1),,,,,0.002,0.0043,0.004,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,TENM3,SILENT,NM_001080477.2:p.Ser597Ser/c.1791T>C,tcT/tcC,LOW,,0.520168,0.7837,rs2871328,,,,,,chr4,183601847,183601847,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser597Ser/c.1791T>C|2699|TENM3|protein_coding|CODING|NM_001080477.2|9|1),"H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.5337,0.5663,0.3479,0.37,0.42,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TENM3,SILENT,NM_001080477.2:p.Asp950Asp/c.2850T>C,gaT/gaC,LOW,,1,1,rs10866256,,,,,,chr4,183652175,183652175,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp950Asp/c.2850T>C|2699|TENM3|protein_coding|CODING|NM_001080477.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,H1ESC:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,DCTD,SILENT,NM_001012732.1:p.Val116Val/c.348T>C,gtT/gtC,LOW,COSM3760499(2),0.310703,0.2202,rs4742,,,,,,chr4,183815688,183815688,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val116Val/c.348T>C|189|DCTD|protein_coding|CODING|NM_001012732.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val105Val/c.315T>C|178|DCTD|protein_coding|CODING|NM_001921.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2239,0.1974,0.2913,0.38,0.51,0.31,,,,,,,,,,,,,,,,
missense_variant,CLDN24,MISSENSE,NM_001185149.1:p.Gln207His/c.621G>C,caG/caC,MODERATE,,0.20607,0.2103,rs6839940,0.38(T),,-1.445(N),-1.0739(T),,chr4,184242959,184242959,C,G,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln207His/c.621G>C|220|CLDN24|protein_coding|CODING|NM_001185149.1|1|1),upstream_gene_variant(MODIFIER||1032||220|CLDN22|protein_coding|CODING|NM_001111319.1||1),downstream_gene_variant(MODIFIER||1030||1192|WWC2|protein_coding|CODING|NM_024949.5||1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2311,0.1383,0.2674,,,,,,1.000(P),-2.06(D),0.0000(T),0.025,0.337185,4.71,1.47,0.555000,0.408000,0.077000,0.127000,0.001000,0.000000,6.4416
missense_variant,CLDN24,MISSENSE,NM_001185149.1:p.Leu18Phe/c.52C>T,Ctc/Ttc,MODERATE,,0.699281,0.5665,rs7688467,0.39(T),,1.835(L),-0.9677(T),,chr4,184243528,184243528,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu18Phe/c.52C>T|220|CLDN24|protein_coding|CODING|NM_001185149.1|1|1),upstream_gene_variant(MODIFIER||1601||220|CLDN22|protein_coding|CODING|NM_001111319.1||1),downstream_gene_variant(MODIFIER||1599||1192|WWC2|protein_coding|CODING|NM_024949.5||1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7628,0.7277,0.7942,,,,,0.080085(N),1.000(P),"-2.51,-2.51(D,D)",0.0000(T),0.103,-0.822534,5.17,-2.23,-0.360000,-0.843000,-0.252000,0.041000,0.001000,0.000000,6.5212
synonymous_variant,ING2,SILENT,NM_001564.3:p.Ala13Ala/c.39C>T,gcC/gcT,LOW,COSM447656(2),0.713259,0.6349,rs8872,,,,,,chr4,184426387,184426387,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala13Ala/c.39C>T|280|ING2|protein_coding|CODING|NM_001564.3|1|1),upstream_gene_variant(MODIFIER||848||240|ING2|protein_coding|CODING|NM_001291959.1||1),upstream_gene_variant(MODIFIER||719|||LOC389247||NON_CODING|NR_033995.2||1)","NHEK:H3K9ac,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.7352,0.6527,0.8022,0.76,0.71,0.79,,,,,,,,,,,,,,,,
missense_variant,RWDD4,MISSENSE,NM_152682.2:p.Ile124Leu/c.370A>C,Ata/Cta,MODERATE,COSM4003007(1),0.221645,0.1329,rs10015804,0.56(T),0.0(B),0(N),-0.9862(T),,chr4,184570715,184570715,T,G,hom,missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile124Leu/c.370A>C|188|RWDD4|protein_coding|CODING|NM_152682.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.2738,0.2575,0.23,0.21,0.24,,0.113387(N),0.999(P),"1.01,1.01,0.99,1.0(T,T,T,T)",0.0000(T),0.089,-0.843622,5.1,3.86,0.455000,0.838000,1.570000,0.034000,0.416000,0.776000,4.5837
missense_variant,TRAPPC11,MISSENSE,NM_021942.5:p.Val49Leu/c.145G>C,Gta/Cta,MODERATE,,0.0123802,0.002,rs141909783,0.46(T),"0.056,0.12(B,B)",0.55(N),-1.0573(T),,chr4,184585165,184585165,G,C,het,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val49Leu/c.145G>C|1133|TRAPPC11|protein_coding|CODING|NM_021942.5|2|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val49Leu/c.145G>C|1086|TRAPPC11|protein_coding|CODING|NM_199053.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0399,0.0058,0.0159,0.01,0.00,0.01,,0.000000(D),1.000(D),,0.0740(T),0.47,4.357564,6.03,6.03,0.655000,2.854000,9.472000,0.994000,1.000000,1.000000,20.1617
missense_variant,TRAPPC11,MISSENSE,NM_021942.5:p.Gln933His/c.2799G>C,caG/caC,MODERATE,COSM149767(2),0.137979,0.2054,rs62617790,0.13(T),"0.942,0.998,0.942,0.904(D,D,D,P)",1.87(L),-1.1164(T),,chr4,184618936,184618936,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln933His/c.2799G>C|1133|TRAPPC11|protein_coding|CODING|NM_021942.5|25|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln933His/c.2799G>C|1086|TRAPPC11|protein_coding|CODING|NM_199053.2|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.273,0.0634,0.1262,0.10,0.05,0.12,,0.000000(D),0.000(P),,0.0001(T),0.366,3.626080,5.54,4.67,0.655000,1.409000,2.609000,0.700000,0.998000,1.000000,11.98
missense_variant,ENPP6,MISSENSE,NM_153343.3:p.Ser419Gly/c.1255A>G,Agc/Ggc,MODERATE,,0.558307,0.5903,rs4479748,0.42(T),0.0(B),0.69(N),-0.9841(T),,chr4,185012398,185012398,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser419Gly/c.1255A>G|440|ENPP6|protein_coding|CODING|NM_153343.3|8|1),,,,,0.498,0.5043,0.4294,0.50,0.66,0.42,,0.470723(N),1.000(P),-0.94(T),0.0000(T),0.048,0.961688,5.72,-5.02,-1.856000,-1.317000,-0.547000,0.001000,0.000000,0.000000,15.2385
missense_variant,PRIMPOL,MISSENSE,NM_152683.3:p.Gln168Arg/c.503A>G,cAg/cGg,MODERATE,,0.966853,1,rs2463447,1(T),"0.0,0.0(B,B)",-2.79(N),-0.9449(T),,chr4,185587165,185587165,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln39Arg/c.116A>G|431|PRIMPOL|protein_coding|CODING|NM_001300767.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln168Arg/c.503A>G|559|PRIMPOL|protein_coding|CODING|NM_001300768.1|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln168Arg/c.503A>G|560|PRIMPOL|protein_coding|CODING|NM_152683.3|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,0.999,0.96,0.89,1.00,,0.000191(N),1.000(P),"1.05,1.79,1.05,1.05(T,T,T,T)",0.0000(T),0.177,0.428059,5.92,5.08,-0.124000,0.879000,1.883000,0.925000,1.000000,0.984000,12.9879
missense_variant,PRIMPOL,MISSENSE,NM_152683.3:p.Thr505Lys/c.1514C>A,aCa/aAa,MODERATE,COSM3760508(1),0.146366,0.001,rs14969,0.62(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-0.9768(T),,chr4,185615764,185615764,C,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr376Lys/c.1127C>A|431|PRIMPOL|protein_coding|CODING|NM_001300767.1|13|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr504Lys/c.1511C>A|559|PRIMPOL|protein_coding|CODING|NM_001300768.1|14|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr505Lys/c.1514C>A|560|PRIMPOL|protein_coding|CODING|NM_152683.3|14|1),3_prime_UTR_variant(MODIFIER||678|c.*678G>T|418|CENPU|protein_coding|CODING|NM_024629.3|13|1),non_coding_exon_variant(MODIFIER|||n.1943G>T||CENPU||CODING|NR_104593.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.092,0.1369,0.1481,0.20,0.28,0.16,,0.045328(N),1.000(P),"1.63,1.63,1.63,1.63(T,T,T,T)",0.0000(T),0.058,-1.374732,4.37,-0.00219,-0.226000,0.055000,-0.366000,0.003000,0.005000,0.000000,4.1821
synonymous_variant,PRIMPOL,SILENT,NM_152683.3:p.Gly506Gly/c.1518T>G,ggT/ggG,LOW,COSM3760509(1),0.146366,0.001,rs3184982,,,,,,chr4,185615768,185615768,T,G,het,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly377Gly/c.1131T>G|431|PRIMPOL|protein_coding|CODING|NM_001300767.1|13|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly505Gly/c.1515T>G|559|PRIMPOL|protein_coding|CODING|NM_001300768.1|14|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly506Gly/c.1518T>G|560|PRIMPOL|protein_coding|CODING|NM_152683.3|14|1),3_prime_UTR_variant(MODIFIER||674|c.*674A>C|418|CENPU|protein_coding|CODING|NM_024629.3|13|1),non_coding_exon_variant(MODIFIER|||n.1939A>C||CENPU||CODING|NR_104593.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.092,0.1369,0.1481,0.20,0.28,0.16,,,,,,,,,,,,,,,,
missense_variant,CENPU,MISSENSE,NM_024629.3:p.Ile214Met/c.642A>G,atA/atG,MODERATE,COSM3760510(1),0.144569,0.001,rs111192530,0.13(T),"0.002,0.004(B,B)",-0.92(N),-0.9380(T),,chr4,185634144,185634144,T,C,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile214Met/c.642A>G|418|CENPU|protein_coding|CODING|NM_024629.3|7|1),non_coding_exon_variant(MODIFIER|||n.712A>G||CENPU||CODING|NR_104593.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.092,0.1354,0.1481,0.20,0.27,0.16,,0.841860(N),1.000(P),"1.97,1.97(T,T)",0.0000(T),0.042,-2.945452,4.03,0.371,-0.722000,-0.189000,-3.075000,0.049000,0.000000,0.000000,8.2661
missense_variant,CENPU,MISSENSE,NM_024629.3:p.Ile157Thr/c.470T>C,aTa/aCa,MODERATE,COSM3760511(1),0.144569,0.001,rs6552804,0.59(T),"0.001,0.012(B,B)",0.51(N),-0.9722(T),,chr4,185637699,185637699,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile157Thr/c.470T>C|418|CENPU|protein_coding|CODING|NM_024629.3|6|1),non_coding_exon_variant(MODIFIER|||n.540T>C||CENPU||CODING|NR_104593.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.092,0.1354,0.1481,0.20,0.27,0.16,,0.354643(N),1.000(P),"1.94,1.94,1.94(T,T,T)",0.0000(T),0.012,-0.577006,3.9,-7.79,-1.773000,-2.532000,-0.801000,0.001000,0.000000,0.000000,1.544
synonymous_variant,CENPU,SILENT,NM_024629.3:p.Phe44Phe/c.132C>T,ttC/ttT,LOW,COSM3760512(1),0.144569,0.001,rs6818447,,,,,,chr4,185650154,185650154,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe44Phe/c.132C>T|418|CENPU|protein_coding|CODING|NM_024629.3|3|1),non_coding_exon_variant(MODIFIER|||n.202C>T||CENPU||CODING|NR_104593.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HMEC:H3K27ac,HUVEC:DNase1,NH-A:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.092,0.1354,0.1481,0.20,0.27,0.16,,,,,,,,,,,,,,,,
missense_variant,CENPU,MISSENSE,NM_024629.3:p.Pro9Ala/c.25C>G,Ccg/Gcg,MODERATE,,0.0970447,0,rs876839,0.22(T),"0.0,0.0(B,B)",0.345(N),-0.9616(T),,chr4,185655192,185655192,G,C,het,"missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro9Ala/c.25C>G|418|CENPU|protein_coding|CODING|NM_024629.3|1|1),non_coding_exon_variant(MODIFIER|||n.95C>G||CENPU||CODING|NR_104593.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:E2F4,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,H1ESC:Jund,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.0562,0.0836,0.0895,0.11,0.17,0.07,,0.038479(N),1.000(P),"2.6,2.58(T,T)",0.0000(T),0.084,-1.888344,0.235,-0.47,-0.676000,-0.685000,-2.968000,0.003000,0.002000,0.000000,.
synonymous_variant,ACSL1,SILENT,NM_001286708.1:p.Leu469Leu/c.1407G>A,ctG/ctA,LOW,,0.83147,0.9306,rs2292898,,,,,,chr4,185686032,185686032,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu469Leu/c.1407G>A|698|ACSL1|protein_coding|CODING|NM_001286708.1|15|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu469Leu/c.1407G>A|698|ACSL1|protein_coding|CODING|NM_001286710.1|15|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu435Leu/c.1305G>A|664|ACSL1|protein_coding|CODING|NM_001286711.1|14|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu298Leu/c.894G>A|527|ACSL1|protein_coding|CODING|NM_001286712.1|16|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu469Leu/c.1407G>A|698|ACSL1|protein_coding|CODING|NM_001995.3|15|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7536,0.8242,0.6511,0.75,0.92,0.66,,,,,,,,,,,,,,,,
synonymous_variant,ACSL1,SILENT,NM_001286708.1:p.Phe392Phe/c.1176T>C,ttT/ttC,LOW,COSM3760513(2),0.214856,0.2153,rs11727009,,,,,,chr4,185687863,185687863,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe392Phe/c.1176T>C|698|ACSL1|protein_coding|CODING|NM_001286708.1|13|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe392Phe/c.1176T>C|698|ACSL1|protein_coding|CODING|NM_001286710.1|13|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe358Phe/c.1074T>C|664|ACSL1|protein_coding|CODING|NM_001286711.1|12|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe221Phe/c.663T>C|527|ACSL1|protein_coding|CODING|NM_001286712.1|14|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe392Phe/c.1176T>C|698|ACSL1|protein_coding|CODING|NM_001995.3|13|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.2277,0.2366,0.23,0.22,0.23,,,,,,,,,,,,,,,,
missense_variant,CFAP97,MISSENSE,NM_001292033.1:p.Ser443Leu/c.1328C>T,tCg/tTg,MODERATE,,0.499201,0.3998,rs6820332,0(D),0.519(P),,-0.9214(T),,chr4,186091487,186091487,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser443Leu/c.1328C>T|453|CFAP97|protein_coding|CODING|NM_001292033.1|4|1),intron_variant(MODIFIER|||c.1320+5453C>T|532|CFAP97|protein_coding|CODING|NM_020827.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4387,0.4625,0.504,,,,,0.252635(N),1.000(P),"1.11,1.11(T,T)",0.0000(T),0.058,0.254247,.,.,0.378000,0.377000,0.226000,0.008000,0.008000,0.075000,.
synonymous_variant,CFAP97,SILENT,NM_020827.2:p.Pro405Pro/c.1215G>A,ccG/ccA,LOW,,0.505591,0.3998,rs6855305,,,,,,chr4,186097045,186097045,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro405Pro/c.1215G>A|453|CFAP97|protein_coding|CODING|NM_001292033.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro405Pro/c.1215G>A|532|CFAP97|protein_coding|CODING|NM_020827.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4397,0.464,0.505,0.51,0.61,0.47,,,,,,,,,,,,,,,,
synonymous_variant,CCDC110,SILENT,NM_152775.3:p.Tyr790Tyr/c.2370C>T,taC/taT,LOW,,0.977436,1,rs7687202,,,,,,chr4,186379371,186379371,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr753Tyr/c.2259C>T|796|CCDC110|protein_coding|CODING|NM_001145411.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr790Tyr/c.2370C>T|833|CCDC110|protein_coding|CODING|NM_152775.3|6|1)",,,,,1,0.9942,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,TLR3,MISSENSE,NM_003265.2:p.Leu412Phe/c.1234C>T,Ctc/Ttc,MODERATE,COSM149771(1),0.231829,0.3284,rs3775291,0.02(D),1.0(D),4.52(H),-1.3545(T),,chr4,187004074,187004074,C,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu412Phe/c.1234C>T|904|TLR3|protein_coding|CODING|NM_003265.2|4|1),HepG2:H3K27me3,,RCV000034357.2,,0.2628,0.3055,0.3241,0.22,0.07,0.29,,0.000000(N),0.000(P),"-1.36,0.95,-1.36(T,T,T)",0.0001(T),0.481,2.888156,5.78,4.95,0.557000,1.458000,4.031000,0.296000,0.965000,0.999000,14.7982
synonymous_variant,TLR3,SILENT,NM_003265.2:p.Phe459Phe/c.1377C>T,ttC/ttT,LOW,COSM1428947(1),0.272165,0.3363,rs3775290,,,,,,chr4,187004217,187004217,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe459Phe/c.1377C>T|904|TLR3|protein_coding|CODING|NM_003265.2|4|1),HepG2:H3K27me3,,,,0.32,0.2738,0.2734,0.27,0.20,0.31,,,,,,,,,,,,,,,,
missense_variant,FAM149A,MISSENSE,NM_001006655.2:p.Lys41Glu/c.121A>G,Aaa/Gaa,MODERATE,COSM3760527(1),0.879792,0.8204,rs4862650,1(T),"0.0,0.0(B,B)",-2.54(N),-0.9560(T),,chr4,187074833,187074833,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys41Glu/c.121A>G|482|FAM149A|protein_coding|CODING|NM_001006655.2|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys41Glu/c.121A>G|482|FAM149A|protein_coding|CODING|NM_015398.2|5|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.8773,0.8602,0.8897,0.89,0.90,0.88,,0.000001(N),0.989(P),"1.29,1.29,1.29,1.29,1.29,1.29,1.29,1.29(T,T,T,T,T,T,T,T)",0.0000(T),0.256,-0.310028,5.45,5.45,-0.124000,1.474000,3.387000,0.002000,0.955000,1.000000,13.7803
missense_variant,FAM149A,MISSENSE,NM_001006655.2:p.Lys146Glu/c.436A>G,Aaa/Gaa,MODERATE,COSM3760529(1),0.886781,0.8204,rs4862653,0.17(T),"0.009,0.025(B,B)",2.125(M),-1.0574(T),,chr4,187077206,187077206,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys146Glu/c.436A>G|482|FAM149A|protein_coding|CODING|NM_001006655.2|6|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys146Glu/c.436A>G|482|FAM149A|protein_coding|CODING|NM_015398.2|7|1)","GM12878:H3K36me3,HepG2:H3K27me3",,,,0.8753,0.8631,0.8936,0.90,0.94,0.88,,0.004229(N),1.000(P),"2.28,2.27,2.28,2.28,2.28,2.28(T,T,T,T,T,T)",0.0000(T),0.178,1.762264,5.46,3.0,-1.066000,0.159000,2.572000,0.000000,0.000000,0.014000,9.4042
missense_variant,FAM149A,MISSENSE,NM_001006655.2:p.His214Arg/c.641A>G,cAc/cGc,MODERATE,COSM3760532(1),0.889577,0.8244,rs2276924,1(T),"0.001,0.0(B,B)",-1.375(N),-0.9887(T),,chr4,187078785,187078785,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His214Arg/c.641A>G|482|FAM149A|protein_coding|CODING|NM_001006655.2|7|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His214Arg/c.641A>G|482|FAM149A|protein_coding|CODING|NM_015398.2|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8783,0.8602,0.8946,0.90,0.94,0.88,,0.000530(N),1.000(P),"2.89,2.91,2.89,2.89,2.89,2.89(T,T,T,T,T,T)",0.0000(T),0.176,-1.138745,5.6,2.01,-1.299000,0.070000,0.289000,0.000000,0.000000,0.001000,9.4761
synonymous_variant,FAM149A,SILENT,NM_001006655.2:p.Ser225Ser/c.675C>G,tcC/tcG,LOW,COSM3760534(1),0.183107,0.2024,rs2276923,,,,,,chr4,187078819,187078819,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser225Ser/c.675C>G|482|FAM149A|protein_coding|CODING|NM_001006655.2|7|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser225Ser/c.675C>G|482|FAM149A|protein_coding|CODING|NM_015398.2|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1421,0.2421,0.1501,0.16,0.19,0.14,,,,,,,,,,,,,,,,
missense_variant,FAM149A,MISSENSE,NM_001006655.2:p.Arg431Trp/c.1291C>T,Cgg/Tgg,MODERATE,COSM3760535(1),0.0708866,0.0218,rs9991339,,,2.175(M),-1.0520(T),,chr4,187088248,187088248,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg431Trp/c.1291C>T|482|FAM149A|protein_coding|CODING|NM_001006655.2|11|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg431Trp/c.1291C>T|482|FAM149A|protein_coding|CODING|NM_015398.2|12|1),splice_region_variant(LOW|||c.1291C>T|482|FAM149A|protein_coding|CODING|NM_001006655.2|11|1),splice_region_variant(LOW|||c.1291C>T|482|FAM149A|protein_coding|CODING|NM_015398.2|12|1)",K562:H3K27me3,,,,0.0072,0.1066,0.0239,0.07,0.16,0.03,,,0.000(P),,0.0002(T),.,1.035096,5.72,1.68,0.591000,0.369000,0.638000,0.003000,0.156000,0.953000,6.8148
missense_variant,CYP4V2,MISSENSE,NM_207352.3:p.Leu22Val/c.64C>G,Ctt/Gtt,MODERATE,COSM3749867(5),0.409744,0.2748,rs1055138,0.56(T),"0.0,0.0(B,B)",0(N),-0.9469(T),,chr4,187113041,187113041,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu22Val/c.64C>G|525|CYP4V2|protein_coding|CODING|NM_207352.3|1|1),upstream_gene_variant(MODIFIER||397|||FLJ38576||NON_CODING|NR_046264.1||1)","NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,RCV000032544.2|RCV000082840.1,,0.3804,0.438,0.5239,0.46,0.41,0.49,,0.489936(N),1.000(P),-0.18(T),0.0000(T),0.031,-1.922890,3.89,0.679,-0.444000,-0.003000,-1.333000,0.024000,0.002000,0.000000,7.1201
missense_variant,CYP4V2,MISSENSE,NM_207352.3:p.Gln259Lys/c.775C>A,Cag/Aag,MODERATE,COSM4003013(1),0.559305,0.4127,rs13146272,1(T),0.001(B),-1.64(N),-0.9423(T),,chr4,187120211,187120211,C,A,hom,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln259Lys/c.775C>A|525|CYP4V2|protein_coding|CODING|NM_207352.3|6|1),,,,,0.6258,0.4741,0.6451,0.63,0.62,0.63,,0.000003(N),1.000(P),-0.18(T),0.0000(T),0.019,-0.485771,4.81,0.977,-0.264000,-0.202000,2.241000,0.909000,0.006000,0.945000,5.9923
synonymous_variant,CYP4V2,SILENT,NM_207352.3:p.Ala270Ala/c.810T>G,gcT/gcG,LOW,COSM149773(2),0.577476,0.4077,rs3736455,,,,,,chr4,187122319,187122319,T,G,hom,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala270Ala/c.810T>G|525|CYP4V2|protein_coding|CODING|NM_207352.3|7|1),,,,,0.6339,0.4914,0.672,0.64,0.62,0.65,,,,,,,,,,,,,,,,
missense_variant,KLKB1,MISSENSE,NM_000892.3:p.Ser143Asn/c.428G>A,aGt/aAt,MODERATE,COSM3760537(2),0.604633,0.6825,rs3733402,1(T),0.001(B),,-1.0136(T),,chr4,187158034,187158034,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser143Asn/c.428G>A|638|KLKB1|protein_coding|CODING|NM_000892.3|5|1),"GM12878:H3K36me3,K562:H3K27me3",Obesity_related_traits,RCV000012817.23,,0.3885,0.5893,0.5229,0.58,0.74,0.51,,0.000039(N),1.000(P),"-2.33,-2.33,-2.33,-2.68,-2.33(D,D,D,D,D)",0.0000(T),0.108,-1.460615,4.91,4.91,-0.269000,0.902000,3.748000,0.093000,0.010000,0.296000,9.2036
synonymous_variant,KLKB1,SILENT,NM_000892.3:p.Asn587Asn/c.1761T>C,aaT/aaC,LOW,,0.658147,0.8512,rs925453,,,,-0.9291(T),,chr4,187179210,187179210,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn587Asn/c.1761T>C|638|KLKB1|protein_coding|CODING|NM_000892.3|15|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.4407,0.6758,0.7008,0.68,0.66,0.69,,,1.000(P),,0.0000(T),.,-0.681527,6.04,-12.1,-2.318000,-4.563000,-3.894000,0.021000,0.000000,0.000000,10.7695
missense_variant,FAT1,MISSENSE,NM_005245.3:p.Lys4059Asn/c.12177G>C,aaG/aaC,MODERATE,,0.997404,1,rs1280097,1(T),0.0(B),-2.045(N),-0.9498(T),,chr4,187519206,187519206,C,G,hom,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys4059Asn/c.12177G>C|4588|FAT1|protein_coding|CODING|NM_005245.3|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9928,0.9971,0.996,1.00,1.00,0.99,,0.000000(N),1.000(P),-2.25(D),0.0000(T),0.058,-1.519886,5.31,-0.147,-1.086000,-0.151000,0.299000,0.163000,0.982000,0.994000,8.4596
synonymous_variant,FAT1,SILENT,NM_005245.3:p.Asn3121Asn/c.9363C>T,aaC/aaT,LOW,,0.611422,0.6657,rs2249916,,,,,,chr4,187534363,187534363,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn3121Asn/c.9363C>T|4588|FAT1|protein_coding|CODING|NM_005245.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3814,0.6571,0.5805,0.62,0.71,0.58,,,,,,,,,,,,,,,,
synonymous_variant,FAT1,SILENT,NM_005245.3:p.Asp3117Asp/c.9351T>C,gaT/gaC,LOW,COSM4003024(1),0.417931,0.2808,rs2249917,,,,,,chr4,187534375,187534375,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp3117Asp/c.9351T>C|4588|FAT1|protein_coding|CODING|NM_005245.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2986,0.4683,0.4702,0.47,0.53,0.45,,,,,,,,,,,,,,,,
synonymous_variant,FAT1,SILENT,NM_005245.3:p.Ala2968Ala/c.8904C>T,gcC/gcT,LOW,,0.416134,0.2808,rs1280099,,,,,,chr4,187538330,187538330,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2968Ala/c.8904C>T|4588|FAT1|protein_coding|CODING|NM_005245.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2965,0.4683,0.4662,0.48,0.54,0.45,,,,,,,,,,,,,,,,
missense_variant,FAT1,MISSENSE,NM_005245.3:p.Gln2933Pro/c.8798A>C,cAa/cCa,MODERATE,COSM4005727(1),0.592053,0.631,rs1280098,1(T),0.0(B),-2.73(N),-0.9401(T),,chr4,187538942,187538942,T,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln2933Pro/c.8798A>C|4588|FAT1|protein_coding|CODING|NM_005245.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3558,0.6037,0.5467,0.62,0.76,0.56,,0.000000(N),0.998(P),0.79(T),0.0000(T),0.061,-1.827288,4.89,4.04,-0.127000,0.780000,5.993000,0.074000,0.014000,1.000000,10.101
missense_variant,FAT1,MISSENSE,NM_005245.3:p.His1273Arg/c.3818A>G,cAc/cGc,MODERATE,,0.645767,0.6786,rs328418,1(T),0.0(B),-2.045(N),-0.9541(T),,chr4,187557893,187557893,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1273Arg/c.3818A>G|4588|FAT1|protein_coding|CODING|NM_005245.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3937,0.647,0.5586,0.63,0.81,0.55,,0.000001(N),0.997(P),0.84(T),0.0000(T),0.094,-0.737484,4.99,4.99,-0.215000,1.353000,5.940000,0.002000,0.039000,1.000000,13.7233
missense_variant,TRIML1,MISSENSE,NM_178556.3:p.Glu132Lys/c.394G>A,Gag/Aag,MODERATE,COSM3760549(2),0.255591,0.0655,rs13131525,0.01(D),0.868(P),1.79(L),-0.8977(T),,chr4,189061106,189061106,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu132Lys/c.394G>A|468|TRIML1|protein_coding|CODING|NM_178556.3|1|1),HepG2:H3K27me3,,,,0.2536,0.4942,0.4672,0.39,0.18,0.50,,0.038231(N),0.023(P),0.06(T),0.0000(T),0.18,2.187911,4.85,4.85,0.561000,2.625000,2.607000,0.256000,1.000000,0.298000,14.1946
synonymous_variant,FRG1,SILENT,NM_004477.2:p.Cys159Cys/c.477C>T,tgC/tgT,LOW,COSM4158962(1),,,rs62345290,,,,,,chr4,190878597,190878597,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys159Cys/c.477C>T|258|FRG1|protein_coding|CODING|NM_004477.2|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FRG1,MISSENSE,NM_004477.2:p.Ile178Met/c.534C>G,atC/atG,MODERATE,COSM4158963(4),,,rs78653319,0.06(T),0.878(P),2.28(M),-0.4557(T),,chr4,190878654,190878654,C,G,het,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile178Met/c.534C>G|258|FRG1|protein_coding|CODING|NM_004477.2|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000067(N),1.000(D),"1.95,0.59(T,T)",0.3142(T),0.606,2.596290,4.29,-2.22,-0.778000,-0.134000,0.029000,0.654000,0.998000,0.919000,13.007
synonymous_variant,PLEKHG4B,SILENT,NM_052909.3:p.Ala650Ala/c.1950G>C,gcG/gcC,LOW,COSM1132217(3),,,rs3810870,,,,,,chr5,163205,163205,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala650Ala/c.1950G>C|1271|PLEKHG4B|protein_coding|CODING|NM_052909.3|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PLEKHG4B,MISSENSE,NM_052909.3:p.Thr669Pro/c.2005A>C,Acc/Ccc,MODERATE,,0.96885,0.8482,rs29674,0.29(T),0.0(B),-0.55(N),-1.0360(T),,chr5,163260,163260,A,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr669Pro/c.2005A>C|1271|PLEKHG4B|protein_coding|CODING|NM_052909.3|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.998,0.9986,1,,,,,,1.000(P),1.57(T),0.0000(T),0.039,-1.332428,2.18,-0.258,-0.352000,-0.151000,.,0.005000,0.001000,.,7.3459
missense_variant,PLEKHG4B,MISSENSE,NM_052909.3:p.Arg1076Gln/c.3227G>A,cGg/cAg,MODERATE,COSM3761114(1),0.338858,0.2659,rs4956987,0.08(T),0.862(P),0.95(L),-0.9161(T),,chr5,174106,174106,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1076Gln/c.3227G>A|1271|PLEKHG4B|protein_coding|CODING|NM_052909.3|16|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5542,0.3804,0.504,,,,,,0.981(P),2.79(T),0.0000(T),0.05,2.605848,3.38,0.527,-0.363000,-0.290000,3.436000,0.939000,0.606000,1.000000,7.0666
synonymous_variant,PLEKHG4B,SILENT,NM_052909.3:p.Gly1122Gly/c.3366T>G,ggT/ggG,LOW,COSM3761182(2),0.439097,0.2589,rs7717970,,,,,,chr5,181660,181660,T,G,het,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly1122Gly/c.3366T>G|1271|PLEKHG4B|protein_coding|CODING|NM_052909.3|17|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5961,0.4784,0.6312,,,,,,,,,,,,,,,,,,,
missense_variant,PLEKHG4B,MISSENSE,NM_052909.3:p.Arg1146Gly/c.3436C>G,Cgg/Ggg,MODERATE,COSM3761183(2),0.33147,0.256,rs12519352,0.08(T),0.859(P),0.345(N),-0.9647(T),,chr5,181730,181730,C,G,het,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg1146Gly/c.3436C>G|1271|PLEKHG4B|protein_coding|CODING|NM_052909.3|17|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5409,0.3732,0.503,,,,,,1.000(P),1.17(T),0.0000(T),0.163,0.319585,3.21,3.21,0.195000,1.335000,.,0.076000,0.039000,.,7.7168
synonymous_variant,PLEKHG4B,SILENT,NM_052909.3:p.Arg1156Arg/c.3468A>G,cgA/cgG,LOW,COSM3761184(2),0.435503,0.2579,rs11133847,,,,,,chr5,181762,181762,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1156Arg/c.3468A>G|1271|PLEKHG4B|protein_coding|CODING|NM_052909.3|17|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6094,0.4798,0.6332,,,,,,,,,,,,,,,,,,,
synonymous_variant,LRRC14B,SILENT,NM_001080478.1:p.Thr113Thr/c.339G>A,acG/acA,LOW,COSM3749921(1),0.0219649,0,rs34710524,,,,,,chr5,191992,191992,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr113Thr/c.339G>A|514|LRRC14B|protein_coding|CODING|NM_001080478.1|1|1),downstream_gene_variant(MODIFIER||1905||1271|PLEKHG4B|protein_coding|CODING|NM_052909.3||1)","GM12878:USF1,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HUVEC:DNase1,K562:USF1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM12878:H3K4me2",,,,0.0082,0.0346,0.0746,,,,,,,,,,,,,,,,,,,
synonymous_variant,SDHA,SILENT,NM_004168.3:p.Pro297Pro/c.891T>C,ccT/ccC,LOW,COSM4159838(1),0.653355,0.3363,rs1126417,,,,,,chr5,231111,231111,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro249Pro/c.747T>C|616|SDHA|protein_coding|CODING|NM_001294332.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro297Pro/c.891T>C|664|SDHA|protein_coding|CODING|NM_004168.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118321.2,,0.6759,0.6902,0.7475,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDCD6,SILENT,NM_013232.3:p.Ile146Ile/c.438T>C,atT/atC,LOW,COSM449516(3),0.605631,0.2649,rs2244029,,,,,,chr5,311478,311478,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile144Ile/c.432T>C|189|PDCD6|protein_coding|CODING|NM_001267556.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile78Ile/c.234T>C|123|PDCD6|protein_coding|CODING|NM_001267557.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile76Ile/c.228T>C|121|PDCD6|protein_coding|CODING|NM_001267558.1|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile146Ile/c.438T>C|191|PDCD6|protein_coding|CODING|NM_013232.3|5|1),intron_variant(MODIFIER|||c.209-3054T>C|69|PDCD6|protein_coding|CODING|NM_001267559.1|3|1),intron_variant(MODIFIER|||c.2+7142T>C|701|AHRR|protein_coding|CODING|NM_001242412.1|1|1),intron_variant(MODIFIER|||c.2+7142T>C|719|AHRR|protein_coding|CODING|NM_020731.4|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.6544,0.5634,0.7028,,,,,,,,,,,,,,,,,,,
synonymous_variant,AHRR,SILENT,NM_020731.4:p.Ser299Ser/c.897C>T,tcC/tcT,LOW,,0.0101837,0,rs72717408,,,,,,chr5,428044,428044,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser281Ser/c.843C>T|701|AHRR|protein_coding|CODING|NM_001242412.1|8|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser299Ser/c.897C>T|719|AHRR|protein_coding|CODING|NM_020731.4|9|1)","NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0,0.0274,0.0308,,,,,,,,,,,,,,,,,,,
missense_variant,AHRR,MISSENSE,NM_020731.4:p.Asp645His/c.1933G>C,Gac/Cac,MODERATE,COSM1437716(2),0.154952,0.004,rs34453673,0.59(T),"0.0,0.0,0.0(B,B,B)",-0.975(N),-0.9025(T),,chr5,434722,434722,G,C,het,"missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp627His/c.1879G>C|701|AHRR|protein_coding|CODING|NM_001242412.1|11|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp645His/c.1933G>C|719|AHRR|protein_coding|CODING|NM_020731.4|12|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,GM06990:H3K36me3",,,,0.1912,0.2363,0.4036,,,,,0.747721(N),1.000(P),"2.33,2.31,1.99,1.99(T,T,T,T)",0.0000(T),0.06,-1.666056,3.32,3.32,-0.216000,0.508000,0.329000,0.000000,0.000000,0.001000,5.0538
missense_variant,SLC9A3,MISSENSE,NM_004174.2:p.Cys799Arg/c.2395T>C,Tgc/Cgc,MODERATE,COSM4006021(2),,,rs2247114,1(T),"0.0,0.0(B,B)",-2.16(N),-0.9597(T),,chr5,475104,475104,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys790Arg/c.2368T>C|825|SLC9A3|protein_coding|CODING|NM_001284351.1|16|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys799Arg/c.2395T>C|834|SLC9A3|protein_coding|CODING|NM_004174.2|16|1),intron_variant(MODIFIER|||n.165-148A>G||LOC100288152||NON_CODING|NR_125375.1|1|1)","HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3",,,,,,,,,,,0.473899(N),0.161(P),"-0.3,-0.3(T,T)",0.0000(T),0.022,-1.648975,4.81,3.84,-0.355000,1.045000,1.936000,0.308000,0.994000,0.999000,7.296
synonymous_variant,SLC9A3,SILENT,NM_004174.2:p.Ala677Ala/c.2031G>A,gcG/gcA,LOW,COSM1132153(2),0.212061,0.0347,rs2230437,,,,,,chr5,476353,476353,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala668Ala/c.2004G>A|825|SLC9A3|protein_coding|CODING|NM_001284351.1|13|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala677Ala/c.2031G>A|834|SLC9A3|protein_coding|CODING|NM_004174.2|13|1),non_coding_exon_variant(MODIFIER|||n.354C>T||LOC100288152||NON_CODING|NR_125375.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.2198,0.3112,0.4115,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC9A3,SILENT,NM_004174.2:p.Gly481Gly/c.1443G>C,ggG/ggC,LOW,COSM4159883(4),0.8123,0.5754,rs9885312,,,,,,chr5,482186,482186,C,G,hom,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly472Gly/c.1416G>C|825|SLC9A3|protein_coding|CODING|NM_001284351.1|8|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly481Gly/c.1443G>C|834|SLC9A3|protein_coding|CODING|NM_004174.2|8|1),downstream_gene_variant(MODIFIER||1180|||LOC100288152||NON_CODING|NR_125375.1||1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.7607,0.8026,0.8847,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC9A3,SILENT,NM_004174.2:p.Tyr322Tyr/c.966T>C,taT/taC,LOW,COSM449718(2),0.102236,0.001,rs56098739,,,,,,chr5,483564,483564,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr322Tyr/c.966T>C|825|SLC9A3|protein_coding|CODING|NM_001284351.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr322Tyr/c.966T>C|834|SLC9A3|protein_coding|CODING|NM_004174.2|6|1)","K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0798,0.2061,0.2793,,,,,,,,,,,,,,,,,,,
missense_variant,CEP72,MISSENSE,NM_018140.3:p.Thr509Ala/c.1525A>G,Aca/Gca,MODERATE,,0.26877,0.4683,rs386618028,0.55(T),0.003(B),0.72(N),-0.9053(T),,chr5,640705,640705,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr509Ala/c.1525A>G|647|CEP72|protein_coding|CODING|NM_018140.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1319,0.2507,0.2286,,,,,0.006085(N),1.000(P),1.39(T),0.0000(T),0.018,-0.043731,5.02,-2.31,0.459000,-0.271000,-2.852000,0.003000,0.000000,0.000000,10.9594
synonymous_variant,TPPP,SILENT,NM_007030.2:p.Ser199Ser/c.597A>G,tcA/tcG,LOW,COSM1438473(2),0.721446,0.6915,rs1697963,,,,,,chr5,665280,665280,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser199Ser/c.597A>G|219|TPPP|protein_coding|CODING|NM_007030.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.6988,0.6064,,,,,,,,,,,,,,,,,,,
synonymous_variant,TPPP,SILENT,NM_007030.2:p.Ala38Ala/c.114T>C,gcT/gcC,LOW,,0.754193,0.6647,rs450628,,,,,,chr5,678062,678062,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala38Ala/c.114T>C|219|TPPP|protein_coding|CODING|NM_007030.2|2|1),"HeLa-S3:DNase1,K562:PolII,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7076,0.7003,0.6451,,,,,,,,,,,,,,,,,,,
missense_variant,ZDHHC11,MISSENSE,NM_024786.2:p.Arg207Met/c.620G>T,aGg/aTg,MODERATE,COSM1568170(6),,,rs3863148,0.2(T),0.01(B),1.545(L),-0.9347(T),,chr5,843723,843723,C,A,het,missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg207Met/c.620G>T|412|ZDHHC11|protein_coding|CODING|NM_024786.2|4|1),"H1ESC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.008323(U),0.999(P),"1.82,1.82(T,T)",0.0000(T),0.212,1.543781,3.98,-2.98,-0.858000,-1.644000,-0.765000,0.000000,0.000000,0.000000,3.3426
synonymous_variant,ZDHHC11,SILENT,NM_024786.2:p.Ser176Ser/c.528G>A,tcG/tcA,LOW,COSM1568168(6),,,rs71591190,,,,,,chr5,843815,843815,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser176Ser/c.528G>A|412|ZDHHC11|protein_coding|CODING|NM_024786.2|4|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SLC12A7,MISSENSE,NM_006598.2:p.Ala408Thr/c.1222G>A,Gca/Aca,MODERATE,COSM4159348(1),0.530351,0.6677,rs4526148,0.76(T),0.0(B),0.895(L),-0.9425(T),,chr5,1081767,1081767,C,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala408Thr/c.1222G>A|1083|SLC12A7|protein_coding|CODING|NM_006598.2|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.59,0.6513,0.5209,,,,,0.996610(N),1.000(P),-1.85(D),0.0000(T),0.002,0.113365,4.09,-0.282,-1.579000,-0.053000,-0.070000,0.000000,0.000000,0.000000,3.7164
synonymous_variant,SLC6A19,SILENT,NM_001003841.2:p.Gly102Gly/c.306T>C,ggT/ggC,LOW,COSM4159372(1),,,rs60992377,,,,,,chr5,1208964,1208964,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly102Gly/c.306T>C|634|SLC6A19|protein_coding|CODING|NM_001003841.2|2|1),"HeLa-S3:DNase1,HeLa-S3:CTCF,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,RCV000118390.2,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A19,SILENT,NM_001003841.2:p.Thr330Thr/c.990A>G,acA/acG,LOW,COSM149780(1),0.840056,0.6825,rs4975629,,,,,,chr5,1216775,1216775,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr330Thr/c.990A>G|634|SLC6A19|protein_coding|CODING|NM_001003841.2|7|1),"H1ESC:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000118392.2,,0.8119,0.8573,0.9563,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A18,SILENT,NM_182632.2:p.Pro7Pro/c.21G>A,ccG/ccA,LOW,COSM149781(2),0.740815,0.5595,rs7704058,,,,,,chr5,1225613,1225613,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro7Pro/c.21G>A|628|SLC6A18|protein_coding|CODING|NM_182632.2|1|1),downstream_gene_variant(MODIFIER||383||634|SLC6A19|protein_coding|CODING|NM_001003841.2||1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7515,0.755,0.7873,,,,,,,,,,,,,,,,,,,
missense_variant,SLC6A18,MISSENSE,NM_182632.2:p.Cys12Ser/c.34T>A,Tgc/Agc,MODERATE,,0.740415,0.5575,rs7728667,0.32(T),0.0(B),0(N),-1.0008(T),,chr5,1225626,1225626,T,A,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Agc|p.Cys12Ser/c.34T>A|628|SLC6A18|protein_coding|CODING|NM_182632.2|1|1),downstream_gene_variant(MODIFIER||396||634|SLC6A19|protein_coding|CODING|NM_001003841.2||1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7515,0.755,0.7873,,,,,0.838807(N),1.000(P),"-0.72,-0.56(T,T)",0.0000(T),0.028,-0.735106,3.5,-5.52,-1.927000,-1.120000,0.816000,0.002000,0.000000,0.001000,5.7734
synonymous_variant,SLC6A18,SILENT,NM_182632.2:p.Leu28Leu/c.84C>T,ctC/ctT,LOW,,0.0644968,0.001,rs33978774,,,,,,chr5,1225676,1225676,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu28Leu/c.84C>T|628|SLC6A18|protein_coding|CODING|NM_182632.2|1|1),downstream_gene_variant(MODIFIER||446||634|SLC6A19|protein_coding|CODING|NM_001003841.2||1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1012,0.0749,0.16,,,,,,,,,,,,,,,,,,,
missense_variant,SLC6A18,MISSENSE,NM_182632.2:p.Thr32Ile/c.95C>T,aCt/aTt,MODERATE,COSM149782(3),0.822883,0.5972,rs7705355,0.73(T),0.0(B),-3.725(N),-0.9393(T),,chr5,1225687,1225687,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr32Ile/c.95C>T|628|SLC6A18|protein_coding|CODING|NM_182632.2|1|1),downstream_gene_variant(MODIFIER||457||634|SLC6A19|protein_coding|CODING|NM_001003841.2||1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.819,0.8573,0.9553,,,,,0.359966(N),1.000(P),"-0.45,-0.45(T,T)",0.0000(T),0.041,-1.537792,4.12,4.12,-0.817000,0.565000,6.067000,0.006000,0.006000,0.967000,9.6943
synonymous_variant,SLC6A18,SILENT,NM_182632.2:p.Thr32Thr/c.96T>C,acT/acC,LOW,COSM149783(2),0.683506,0.5575,rs7728814,,,,,,chr5,1225688,1225688,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr32Thr/c.96T>C|628|SLC6A18|protein_coding|CODING|NM_182632.2|1|1),downstream_gene_variant(MODIFIER||458||634|SLC6A19|protein_coding|CODING|NM_001003841.2||1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6738,0.7435,0.7873,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A18,SILENT,NM_182632.2:p.Gly37Gly/c.111A>G,ggA/ggG,LOW,COSM149784(2),0.822883,0.5972,rs386612781,,,,,,chr5,1225703,1225703,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly37Gly/c.111A>G|628|SLC6A18|protein_coding|CODING|NM_182632.2|1|1),downstream_gene_variant(MODIFIER||473||634|SLC6A19|protein_coding|CODING|NM_001003841.2||1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.819,0.8573,0.9553,,,,,,,,,,,,,,,,,,,
stop_gained,SLC6A18,NONSENSE,NM_182632.2:p.Tyr319*/c.957C>G,taC/taG,HIGH,COSM4159380(1),0.348642,0.2351,rs7447815,1(T),,,,SLC6A18:1.00(1);SLC6A18:1.00(1);,chr5,1240757,1240757,C,G,het,stop_gained(HIGH|NONSENSE|taC/taG|p.Tyr319*/c.957C>G|628|SLC6A18|protein_coding|CODING|NM_182632.2|7|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4039,0.3775,0.3688,,,,,0.280472(N),0.000(P),,,.,2.386926,4.51,-3.14,-1.743000,-0.907000,-3.005000,0.005000,0.000000,0.000000,13.214
missense_variant,SLC6A18,MISSENSE,NM_182632.2:p.Pro478Leu/c.1433C>T,cCg/cTg,MODERATE,COSM3760896(1),0.676118,0.2728,rs386590564,0.66(T),0.001(B),-1.945(N),-0.9588(T),,chr5,1244425,1244425,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro478Leu/c.1433C>T|628|SLC6A18|protein_coding|CODING|NM_182632.2|10|1),"GM06990:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6728,0.696,0.7744,,,,,0.022133(N),0.779(P),"-0.64,-0.64(T,T)",0.0000(T),0.183,-0.810981,4.87,4.87,-0.361000,0.722000,4.148000,0.030000,0.005000,0.980000,8.4287
synonymous_variant,TERT,SILENT,NM_198253.2:p.Ala305Ala/c.915G>A,gcG/gcA,LOW,COSM3760904(3),0.265575,0.371,,,,,,,chr5,1294086,1294086,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala305Ala/c.915G>A|1069|TERT|protein_coding|CODING|NM_001193376.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala305Ala/c.915G>A|1132|TERT|protein_coding|CODING|NM_198253.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000032400.1,,0.5031,0.2032,0.2346,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A3,SILENT,NM_001044.4:p.Ser405Ser/c.1215A>G,tcA/tcG,LOW,COSM3761013(2),0.298522,0.125,rs6347,,,,,,chr5,1411412,1411412,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser405Ser/c.1215A>G|620|SLC6A3|protein_coding|CODING|NM_001044.4|9|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1595,0.1988,0.2932,,,,,,,,,,,,,,,,,,,
missense_variant,LPCAT1,MISSENSE,NM_024830.3:p.Met427Thr/c.1280T>C,aTg/aCg,MODERATE,COSM4159609(1),0.165535,0.1319,rs35452723,0.11(T),0.028(B),2.48(M),-1.0683(T),,chr5,1467004,1467004,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met427Thr/c.1280T>C|534|LPCAT1|protein_coding|CODING|NM_024830.3|13|1),splice_region_variant(LOW|||c.1280T>C|534|LPCAT1|protein_coding|CODING|NM_024830.3|13|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2607,0.2233,0.2326,,,,,0.000000(D),0.000(P),-0.27(T),0.0001(T),0.822,2.298881,4.47,4.47,0.459000,1.793000,5.569000,0.099000,0.998000,1.000000,12.0333
synonymous_variant,IRX4,SILENT,NM_001278633.1:p.Pro127Pro/c.381A>G,ccA/ccG,LOW,COSM4159836(1),0.297324,0.3313,rs386596898,,,,,,chr5,1880865,1880865,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro127Pro/c.381A>G|519|IRX4|protein_coding|CODING|NM_001278632.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro127Pro/c.381A>G|545|IRX4|protein_coding|CODING|NM_001278633.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro127Pro/c.381A>G|519|IRX4|protein_coding|CODING|NM_001278634.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro127Pro/c.381A>G|545|IRX4|protein_coding|CODING|NM_001278635.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro127Pro/c.381A>G|519|IRX4|protein_coding|CODING|NM_016358.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2607,0.3184,0.2276,,,,,,,,,,,,,,,,,,,
missense_variant,IRX4,MISSENSE,NM_001278633.1:p.Ala119Thr/c.355G>A,Gct/Act,MODERATE,COSM1436787(1),0.137181,0.0139,rs2232376,0.42(T),0.068(B),0.41(N),-1.0630(T),,chr5,1880891,1880891,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala119Thr/c.355G>A|519|IRX4|protein_coding|CODING|NM_001278632.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala119Thr/c.355G>A|545|IRX4|protein_coding|CODING|NM_001278633.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala119Thr/c.355G>A|519|IRX4|protein_coding|CODING|NM_001278634.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala119Thr/c.355G>A|545|IRX4|protein_coding|CODING|NM_001278635.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala119Thr/c.355G>A|519|IRX4|protein_coding|CODING|NM_016358.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0716,0.1599,0.2058,,,,,0.015722(N),0.147(P),"-0.2,-0.2,-0.2,-0.04(T,T,T,T)",0.0000(T),0.162,0.425811,4.03,4.03,0.557000,1.801000,3.640000,0.013000,0.014000,0.997000,14.9752
synonymous_variant,IRX4,SILENT,NM_001278633.1:p.Gly30Gly/c.90A>C,ggA/ggC,LOW,,0.277356,0.3313,rs2232374,,,,,,chr5,1882129,1882129,T,G,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly30Gly/c.90A>C|519|IRX4|protein_coding|CODING|NM_001278632.1|3|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly30Gly/c.90A>C|545|IRX4|protein_coding|CODING|NM_001278633.1|3|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly30Gly/c.90A>C|519|IRX4|protein_coding|CODING|NM_001278634.1|3|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly30Gly/c.90A>C|545|IRX4|protein_coding|CODING|NM_001278635.1|3|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly30Gly/c.90A>C|519|IRX4|protein_coding|CODING|NM_016358.2|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.2505,0.3141,0.2177,,,,,,,,,,,,,,,,,,,
missense_variant,IRX2,MISSENSE,NM_001134222.1:p.Glu255Asp/c.765G>T,gaG/gaT,MODERATE,COSM449515(2),0.117013,0.0913,rs76906087,0.22(T),0.525(P),1.59(L),-1.0427(T),,chr5,2749057,2749057,C,A,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu255Asp/c.765G>T|471|IRX2|protein_coding|CODING|NM_001134222.1|3|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu255Asp/c.765G>T|471|IRX2|protein_coding|CODING|NM_033267.4|3|1)","NHEK:H3K9ac,H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HMEC:DNase1,NHEK:DNase1,HMEC:H3K4me3",,,,0.2955,0.0706,0.1421,,,,,0.087452(N),0.000(P),"-0.18,-0.18,-0.2(T,T,T)",0.0016(T),0.25,2.316921,4.87,4.87,0.563000,2.248000,0.585000,0.907000,1.000000,1.000000,11.5223
synonymous_variant,IRX1,SILENT,NM_024337.3:p.Asn424Asn/c.1272T>C,aaT/aaC,LOW,COSM4159862(1),0.848642,0.7639,rs844154,,,,,,chr5,3600334,3600334,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn424Asn/c.1272T>C|480|IRX1|protein_coding|CODING|NM_024337.3|2|1),"H1ESC:H3K36me3,HMEC:H3K9ac,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.7485,0.8948,0.9235,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS16,SILENT,NM_139056.2:p.Leu18Leu/c.52T>C,Ttg/Ctg,LOW,COSM4159884(3),0.624401,0.8065,rs270208,,,,,,chr5,5140632,5140632,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu18Leu/c.52T>C|1224|ADAMTS16|protein_coding|CODING|NM_139056.2|1|1),upstream_gene_variant(MODIFIER||465|||CTD-2297D10.2||NON_CODING|NR_109915.1||1)","H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4724,0.6571,0.501,,,,,,,,,,,,,,,,,,,
missense_variant,ADAMTS16,MISSENSE,NM_139056.2:p.Pro90Ala/c.268C>G,Ccc/Gcc,MODERATE,,0.695487,0.498,rs2086310,0.85(T),"0.0,0.0,0.0(B,B,B)",-1.32(N),-1.0584(T),,chr5,5146335,5146335,C,G,het,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro90Ala/c.268C>G|1224|ADAMTS16|protein_coding|CODING|NM_139056.2|3|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac",,,,0.8282,0.8674,0.8111,,,,,0.073780(N),1.000(P),"3.39,3.39(T,T)",0.0000(T),0.018,-2.590313,5.55,-0.853,-2.319000,-0.320000,-0.242000,0.003000,0.000000,0.000000,2.1559
missense_variant,ADAMTS16,MISSENSE,NM_139056.2:p.Met110Val/c.328A>G,Atg/Gtg,MODERATE,,0.482827,0.4286,rs1863968,0.02(D),"0.004,0.001,0.001(B,B,B)",1.4(L),-0.9025(T),,chr5,5146395,5146395,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met110Val/c.328A>G|1224|ADAMTS16|protein_coding|CODING|NM_139056.2|3|1),"H1ESC:H3K36me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac",,,,0.637,0.4035,0.6133,,,,,0.021648(N),0.999(P),"3.48,3.48(T,T)",0.0000(T),0.062,1.049358,5.74,-11.5,-0.400000,-2.247000,-1.137000,0.205000,0.517000,0.006000,8.248
missense_variant,ADAMTS16,MISSENSE,NM_139056.2:p.Pro211Ser/c.631C>T,Ccc/Tcc,MODERATE,,0.0145767,0.0476,rs61748184,0.69(T),"0.004,0.015,0.007(B,B,B)",1.1(L),-1.0400(T),,chr5,5182286,5182286,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro211Ser/c.631C>T|1224|ADAMTS16|protein_coding|CODING|NM_139056.2|4|1),"H1ESC:H3K27ac,HeLa-S3:H3K27me3",,,,0.0082,0.0029,0.0149,,,,,0.238346(N),1.000(N),"0.17,0.06(T,T)",0.0205(T),0.021,0.638205,5.37,-5.34,-0.171000,-0.975000,-0.778000,0.002000,0.000000,0.000000,9.6227
synonymous_variant,ADAMTS16,SILENT,NM_139056.2:p.Cys450Cys/c.1350C>T,tgC/tgT,LOW,,0.72524,0.8026,rs6555335,,,,,,chr5,5200281,5200281,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys450Cys/c.1350C>T|1224|ADAMTS16|protein_coding|CODING|NM_139056.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3",,,,0.772,0.8314,0.7396,,,,,,,,,,,,,,,,,,,
synonymous_variant,NSUN2,SILENT,NM_017755.5:p.Thr583Thr/c.1749G>A,acG/acA,LOW,COSM4159937(1),0.222045,0.4623,rs13181449,,,,,,chr5,6604787,6604787,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr548Thr/c.1644G>A|732|NSUN2|protein_coding|CODING|NM_001193455.1|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr583Thr/c.1749G>A|767|NSUN2|protein_coding|CODING|NM_017755.5|16|1),non_coding_exon_variant(MODIFIER|||n.2045G>A||NSUN2||CODING|NR_037947.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117855.2,,0.3139,0.1427,0.1899,,,,,,,,,,,,,,,,,,,
synonymous_variant,PAPD7,SILENT,NM_006999.4:p.Ala264Ala/c.792T>C,gcT/gcC,LOW,COSM149790(2),0.564696,0.5754,rs274681,,,,,,chr5,6748659,6748659,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala264Ala/c.792T>C|541|PAPD7|protein_coding|CODING|NM_001171805.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala84Ala/c.252T>C|362|PAPD7|protein_coding|CODING|NM_001171806.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala264Ala/c.792T>C|542|PAPD7|protein_coding|CODING|NM_006999.4|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.6421,0.5836,0.6759,,,,,,,,,,,,,,,,,,,
missense_variant,ADCY2,MISSENSE,NM_020546.2:p.Val147Leu/c.439G>T,Gtg/Ttg,MODERATE,COSM3761325(1),0.0916534,0,rs13166360,0.06(T),0.26(B),1.995(M),-1.1303(T),,chr5,7520881,7520881,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val147Leu/c.439G>T|1091|ADCY2|protein_coding|CODING|NM_020546.2|3|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.1074,0.0994,0.2117,,,,,0.000000(D),0.000(P),-1.0(T),0.0001(T),0.203,4.072518,5.45,5.45,0.650000,2.545000,5.996000,0.998000,1.000000,1.000000,16.4516
synonymous_variant,ADCY2,SILENT,NM_020546.2:p.Ser626Ser/c.1878C>T,tcC/tcT,LOW,COSM4159997(2),0.323682,0.0585,rs62342477,,,,,,chr5,7743787,7743787,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser626Ser/c.1878C>T|1091|ADCY2|protein_coding|CODING|NM_020546.2|15|1),"H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.3763,0.3199,0.5755,,,,,,,,,,,,,,,,,,,
missense_variant,C5orf49,MISSENSE,NM_001089584.2:p.Gln68His/c.204G>C,caG/caC,MODERATE,,0.177316,0.0972,rs6883562,0.08(T),0.471(P),1.7(L),-1.0351(T),,chr5,7835555,7835555,C,G,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln68His/c.204G>C|147|C5orf49|protein_coding|CODING|NM_001089584.2|2|1),,,,,0.2198,0.1715,0.2217,,,,,,0.838(P),"1.47,1.47(T,T)",0.0000(T),0.179,3.005516,4.95,1.68,0.561000,0.625000,0.512000,0.969000,0.714000,0.989000,5.3712
missense_variant,FASTKD3,MISSENSE,NM_024091.3:p.Glu459Gly/c.1376A>G,gAa/gGa,MODERATE,,0.0878594,0.2093,rs16879259,0.49(T),0.038(B),0.895(L),-1.0301(T),,chr5,7866821,7866821,T,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu459Gly/c.1376A>G|662|FASTKD3|protein_coding|CODING|NM_024091.3|2|1),intron_variant(MODIFIER|||n.60-725A>G||FASTKD3||CODING|NR_036553.1|1|1),intron_variant(MODIFIER|||n.60-725A>G||FASTKD3||CODING|NR_073608.1|1|1)","NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0297,0.1052,0.0239,,,,,0.012089(N),0.999(P),0.72(T),0.0001(T),0.083,0.748671,4.95,-3.02,0.533000,-0.444000,2.288000,0.371000,0.000000,0.983000,7.5483
synonymous_variant,FASTKD3,SILENT,NM_024091.3:p.Ala410Ala/c.1230C>G,gcC/gcG,LOW,,0.820487,0.6716,rs162030,,,,,,chr5,7866967,7866967,G,C,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala410Ala/c.1230C>G|662|FASTKD3|protein_coding|CODING|NM_024091.3|2|1),intron_variant(MODIFIER|||n.60-871C>G||FASTKD3||CODING|NR_036553.1|1|1),intron_variant(MODIFIER|||n.60-871C>G||FASTKD3||CODING|NR_073608.1|1|1)","K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8027,0.8458,0.8241,,,,,,,,,,,,,,,,,,,
missense_variant,FASTKD3,MISSENSE,NM_024091.3:p.Lys56Arg/c.167A>G,aAa/aGa,MODERATE,,0.821486,0.6716,rs2966952,1(T),0.0(B),-2.075(N),-0.9764(T),,chr5,7868030,7868030,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys56Arg/c.167A>G|662|FASTKD3|protein_coding|CODING|NM_024091.3|2|1),upstream_gene_variant(MODIFIER||1187||698|MTRR|protein_coding|CODING|NM_002454.2||1),upstream_gene_variant(MODIFIER||1187||725|MTRR|protein_coding|CODING|NM_024010.2||1),intron_variant(MODIFIER|||n.59+1062A>G||FASTKD3||CODING|NR_036553.1|1|1),intron_variant(MODIFIER|||n.59+1062A>G||FASTKD3||CODING|NR_073608.1|1|1)","HeLa-S3:H3K79me2,K562:H3K36me3,HeLa-S3:H3K4me2,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8027,0.8458,0.8241,,,,,0.377274(N),1.000(P),"2.2,2.2,2.2(T,T,T)",0.0000(T),0.113,-2.142342,5.05,0.974,-0.812000,0.061000,-0.633000,0.000000,0.000000,0.000000,5.4994
missense_variant,MTRR,MISSENSE,NM_024010.2:p.Ile49Met/c.147A>G,atA/atG,MODERATE,,0.364217,0.2629,rs1801394,0.02(D),0.99(D),2.18(M),-0.9055(T),,chr5,7870973,7870973,A,G,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile22Met/c.66A>G|698|MTRR|protein_coding|CODING|NM_002454.2|2|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile49Met/c.147A>G|725|MTRR|protein_coding|CODING|NM_024010.2|2|1),upstream_gene_variant(MODIFIER||1823||662|FASTKD3|protein_coding|CODING|NM_024091.3||1),upstream_gene_variant(MODIFIER||1823|||FASTKD3||CODING|NR_036553.1||1),upstream_gene_variant(MODIFIER||1823|||FASTKD3||CODING|NR_073608.1||1)","HepG2:H3K4me2,HeLa-S3:H3K79me2,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,GM12878:H3K4me2",,RCV000007444.1|RCV000007445.1|RCV000126873.1,,0.5245,0.281,0.5229,,,,,0.000017(D),0.996(P),"-1.04,-1.04,-1.04,-1.04,-1.04,-1.04(T,T,T,T,T,T)",0.0000(T),0.642,3.114507,5.69,0.334,0.533000,-0.168000,0.177000,0.938000,0.019000,0.012000,8.87
missense_variant,MTRR,MISSENSE,NM_024010.2:p.Ser202Leu/c.605C>T,tCg/tTg,MODERATE,COSM4003607(1),0.269968,0.129,rs1532268,0.3(T),0.0(B),0(N),-0.9096(T),,chr5,7878179,7878179,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser175Leu/c.524C>T|698|MTRR|protein_coding|CODING|NM_002454.2|5|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser202Leu/c.605C>T|725|MTRR|protein_coding|CODING|NM_024010.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.2147,0.336,,,,,0.000983(N),1.000(P),"4.36,4.37(T,T)",0.0000(T),0.301,0.982408,5.29,-10.6,-1.594000,-2.652000,-1.590000,0.000000,0.000000,0.000000,3.722
missense_variant,MTRR,MISSENSE,NM_024010.2:p.Ser284Thr/c.850T>A,Tct/Act,MODERATE,,0.0391374,0.1012,rs2303080,0.59(T),0.001(B),0(N),-1.0779(T),,chr5,7878424,7878424,T,A,het,"missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser257Thr/c.769T>A|698|MTRR|protein_coding|CODING|NM_002454.2|5|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser284Thr/c.850T>A|725|MTRR|protein_coding|CODING|NM_024010.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0184,0.0576,0.0288,,,,,0.487535(N),1.000(N),"1.48,1.48(T,T)",0.0018(T),0.155,-1.363703,5.87,-11.7,-1.234000,-3.658000,-2.765000,0.005000,0.000000,0.000000,9.0996
synonymous_variant,MTRR,SILENT,NM_024010.2:p.Leu412Leu/c.1236G>A,ttG/ttA,LOW,,0.0680911,0.1696,rs2287779,,,,,,chr5,7889216,7889216,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu385Leu/c.1155G>A|698|MTRR|protein_coding|CODING|NM_002454.2|9|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu412Leu/c.1236G>A|725|MTRR|protein_coding|CODING|NM_024010.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.1009,0.0298,,,,,,,,,,,,,,,,,,,
missense_variant,MTRR,MISSENSE,NM_024010.2:p.Arg442Cys/c.1324C>T,Cgc/Tgc,MODERATE,,0.0678914,0.1696,rs2287780,0.04(D),0.916(D),1.7(L),-1.0947(T),,chr5,7889304,7889304,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg415Cys/c.1243C>T|698|MTRR|protein_coding|CODING|NM_002454.2|9|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg442Cys/c.1324C>T|725|MTRR|protein_coding|CODING|NM_024010.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.0994,0.0298,,,,,0.286136(N),1.000(P),"1.37,1.37(T,T)",0.0009(T),0.225,1.431685,5.08,4.17,0.655000,2.355000,0.363000,0.016000,0.044000,0.000000,13.4726
missense_variant,MTRR,MISSENSE,NM_024010.2:p.Pro477Arg/c.1430C>G,cCc/cGc,MODERATE,,0.0644968,0.1696,rs16879334,0(D),0.97(D),3.365(M),-0.8904(T),,chr5,7891506,7891506,C,G,het,"missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro450Arg/c.1349C>G|698|MTRR|protein_coding|CODING|NM_002454.2|10|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro477Arg/c.1430C>G|725|MTRR|protein_coding|CODING|NM_024010.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.098,0.0298,,,,,0.000002(D),0.000(P),"-0.74,-0.74(T,T)",0.0080(T),0.189,4.380542,5.16,5.16,0.563000,2.420000,4.249000,0.981000,0.997000,1.000000,16.8641
synonymous_variant,MTRR,SILENT,NM_024010.2:p.Ala664Ala/c.1992G>A,gcG/gcA,LOW,COSM4003608(2),0.266374,0.13,rs1802059,,,,,,chr5,7897319,7897319,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala637Ala/c.1911G>A|698|MTRR|protein_coding|CODING|NM_002454.2|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala664Ala/c.1992G>A|725|MTRR|protein_coding|CODING|NM_024010.2|14|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,HSMM:DNase1,IMR90:H3K36me3,NH-A:CTCF,K562:Yy1,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.3875,0.2133,0.336,,,,,,,,,,,,,,,,,,,
synonymous_variant,SEMA5A,SILENT,NM_003966.2:p.Gly474Gly/c.1422C>G,ggC/ggG,LOW,COSM4003627(1),0.273962,0.2312,rs1806151,,,,,,chr5,9154659,9154659,G,C,het,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly474Gly/c.1422C>G|1074|SEMA5A|protein_coding|CODING|NM_003966.2|12|1),"GM06990:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3037,0.3199,0.5676,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM173B,SILENT,NM_199133.3:p.Pro69Pro/c.207G>A,ccG/ccA,LOW,,0.616014,0.8383,rs2252505,,,,,,chr5,10239278,10239278,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro69Pro/c.207G>A|216|FAM173B|protein_coding|CODING|NM_001258388.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro69Pro/c.207G>A|158|FAM173B|protein_coding|CODING|NM_001258389.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro69Pro/c.207G>A|233|FAM173B|protein_coding|CODING|NM_199133.3|2|1),non_coding_exon_variant(MODIFIER|||n.243G>A||FAM173B||CODING|NR_047668.1|2|1),non_coding_exon_variant(MODIFIER|||n.310G>A||FAM173B||CODING|NR_047670.1|3|1),non_coding_exon_variant(MODIFIER|||n.243G>A||FAM173B||CODING|NR_047669.1|2|1)","NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.729,0.7219,0.6362,,,,,,,,,,,,,,,,,,,
synonymous_variant,CCT5,SILENT,NM_012073.3:p.Gly66Gly/c.198A>G,ggA/ggG,LOW,,0.685903,0.879,rs2578617,,,,,,chr5,10254817,10254817,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly66Gly/c.198A>G|541|CCT5|protein_coding|CODING|NM_012073.3|3|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.6534,0.7752,0.8539,,,,,,,,,,,,,,,,,,,
synonymous_variant,CCT5,SILENT,NM_012073.3:p.Arg142Arg/c.426T>C,cgT/cgC,LOW,,0.692492,0.8839,rs1042392,,,,,,chr5,10256161,10256161,T,C,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg142Arg/c.426T>C|541|CCT5|protein_coding|CODING|NM_012073.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.7767,0.8579,,,,,,,,,,,,,,,,,,,
synonymous_variant,CMBL,SILENT,NM_138809.3:p.Ile157Ile/c.471T>C,atT/atC,LOW,COSM149793(1),0.429912,0.0754,rs10067744,,,,,,chr5,10282396,10282396,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile157Ile/c.471T>C|245|CMBL|protein_coding|CODING|NM_138809.3|5|1),K562:H3K36me3,,,,0.4233,0.4366,0.7197,,,,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD33B,SILENT,NM_001164440.1:p.Leu89Leu/c.267C>T,ctC/ctT,LOW,COSM4159345(2),0.964257,1,rs814576,,,,,,chr5,10564846,10564846,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu89Leu/c.267C>T|494|ANKRD33B|protein_coding|CODING|NM_001164440.1|1|1),"NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,0.987,0.996,,,,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD33B,SILENT,NM_001164440.1:p.Pro179Pro/c.537T>C,ccT/ccC,LOW,COSM149794(2),0.371006,0.3194,rs11745612,,,,,,chr5,10638180,10638180,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro179Pro/c.537T>C|494|ANKRD33B|protein_coding|CODING|NM_001164440.1|3|1),"H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4387,0.3501,0.4274,,,,,,,,,,,,,,,,,,,
synonymous_variant,DNAH5,SILENT,NM_001369.2:p.Thr3491Thr/c.10473G>A,acG/acA,LOW,,0.328275,0.122,rs2401809,,,,,,chr5,13754394,13754394,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr3491Thr/c.10473G>A|4624|DNAH5|protein_coding|CODING|NM_001369.2|62|1),IMR90:H3K36me3,,,,0.5072,0.2911,0.3847,,,,,,,,,,,,,,,,,,,
missense_variant,DNAH5,MISSENSE,NM_001369.2:p.Leu2862Phe/c.8586G>T,ttG/ttT,MODERATE,COSM3760931(2),0.208666,0.2173,rs10513155,0.44(T),0.003(B),0.895(L),-0.9462(T),,chr5,13788886,13788886,C,A,het,missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu2862Phe/c.8586G>T|4624|DNAH5|protein_coding|CODING|NM_001369.2|51|1),IMR90:H3K36me3,,,,0.2076,0.2608,0.2744,,,,,0.442423(N),0.960(P),1.78(T),0.0000(T),0.024,0.400141,5.86,4.02,0.655000,0.745000,-0.096000,0.775000,0.918000,0.008000,5.5757
synonymous_variant,DNAH5,SILENT,NM_001369.2:p.Ala1724Ala/c.5172C>T,gcC/gcT,LOW,COSM3760936(1),0.454673,0.622,rs10041113,,,,,,chr5,13845045,13845045,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1724Ala/c.5172C>T|4624|DNAH5|protein_coding|CODING|NM_001369.2|32|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3272,0.4092,0.3598,,,,,,,,,,,,,,,,,,,
synonymous_variant,DNAH5,SILENT,NM_001369.2:p.Arg1458Arg/c.4374G>T,cgG/cgT,LOW,COSM149796(3),,,rs386603489,,,,,,chr5,13864728,13864728,C,A,het,synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg1458Arg/c.4374G>T|4624|DNAH5|protein_coding|CODING|NM_001369.2|28|1),IMR90:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,DNAH5,SILENT,NM_001369.2:p.Thr1384Thr/c.4152A>G,acA/acG,LOW,COSM149797(2),0.46865,0.3323,rs7703349,,,,,,chr5,13865980,13865980,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1384Thr/c.4152A>G|4624|DNAH5|protein_coding|CODING|NM_001369.2|27|1),IMR90:H3K36me3,,,,0.5307,0.3401,0.4652,,,,,,,,,,,,,,,,,,,
missense_variant,DNAH5,MISSENSE,NM_001369.2:p.Ile766Leu/c.2296A>T,Ata/Tta,MODERATE,COSM149798(2),0.487819,0.249,rs4701997,0.59(T),0.032(B),1.975(M),-0.9293(T),,chr5,13894894,13894894,T,A,het,missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile766Leu/c.2296A>T|4624|DNAH5|protein_coding|CODING|NM_001369.2|16|1),IMR90:H3K36me3,,,,0.6288,0.4654,0.5,,,,,0.000098(D),0.200(P),0.83(T),0.0000(T),0.101,1.634972,5.53,4.37,0.459000,0.935000,3.012000,0.421000,1.000000,1.000000,8.5314
synonymous_variant,DNAH5,SILENT,NM_001369.2:p.Asp743Asp/c.2229T>C,gaT/gaC,LOW,COSM3760941(1),0.601238,0.8661,rs1445823,,,,,,chr5,13900345,13900345,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp743Asp/c.2229T>C|4624|DNAH5|protein_coding|CODING|NM_001369.2|15|1),IMR90:H3K36me3,,,,0.4346,0.5159,0.4493,,,,,,,,,,,,,,,,,,,
missense_variant,DNAH5,MISSENSE,NM_001369.2:p.Thr558Ala/c.1672A>G,Aca/Gca,MODERATE,,0.388379,0.7579,rs1530498,0.9(T),0.016(B),1.825(L),-0.9337(T),,chr5,13902220,13902220,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr558Ala/c.1672A>G|4624|DNAH5|protein_coding|CODING|NM_001369.2|13|1),,,,,0.2945,0.4251,0.3996,,,,,0.000059(N),0.000(P),0.67(T),0.0000(T),0.173,0.225193,4.94,2.56,0.533000,0.338000,1.739000,0.988000,0.822000,0.989000,8.8615
synonymous_variant,DNAH5,SILENT,NM_001369.2:p.Ile501Ile/c.1503T>C,atT/atC,LOW,,0.528754,0.8492,rs3213936,,,,,,chr5,13913885,13913885,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile501Ile/c.1503T>C|4624|DNAH5|protein_coding|CODING|NM_001369.2|11|1),IMR90:H3K36me3,,,,0.3569,0.4496,0.3797,,,,,,,,,,,,,,,,,,,
missense_variant,DNAH5,MISSENSE,NM_001369.2:p.Gly24Glu/c.71G>A,gGa/gAa,MODERATE,,0.500599,0.7014,rs1530496,1(T),0.0(B),-2.455(N),-0.9426(T),,chr5,13931340,13931340,C,T,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly24Glu/c.71G>A|4624|DNAH5|protein_coding|CODING|NM_001369.2|2|1),"HUVEC:H3K27me3,IMR90:H3K36me3",,,,0.3916,0.4669,0.2833,,,,,0.000000(N),0.998(P),2.11(T),0.0000(T),0.064,0.422151,5.6,5.6,-0.269000,1.060000,5.349000,0.959000,1.000000,1.000000,11.6651
missense_variant,DNAH5,MISSENSE,NM_001369.2:p.His12Gln/c.36T>G,caT/caG,MODERATE,,0.912939,0.8899,rs339445,1(T),0.0(B),-1.7(N),-0.9818(T),,chr5,13944512,13944512,A,C,hom,missense_variant(MODERATE|MISSENSE|caT/caG|p.His12Gln/c.36T>G|4624|DNAH5|protein_coding|CODING|NM_001369.2|1|1),"HUVEC:H3K27me3,IMR90:H3K36me3",,,,0.9407,0.9597,0.9324,,,,,0.007747(N),1.000(P),2.0(T),0.0000(T),0.064,0.085395,5.83,3.81,-0.121000,0.830000,1.070000,0.980000,1.000000,1.000000,3.0535
synonymous_variant,TRIO,SILENT,NM_007118.2:p.Asn1011Asn/c.3033C>T,aaC/aaT,LOW,,0.176518,0.0615,rs13189406,,,,,,chr5,14368975,14368975,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1011Asn/c.3033C>T|3097|TRIO|protein_coding|CODING|NM_007118.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2832,0.2334,0.2763,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRIO,SILENT,NM_007118.2:p.Asp1466Asp/c.4398T>C,gaT/gaC,LOW,COSM449031(2),0.393371,0.0982,rs30774,,,,,,chr5,14397238,14397238,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1466Asp/c.4398T>C|3097|TRIO|protein_coding|CODING|NM_007118.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3599,0.3761,0.334,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRIO,SILENT,NM_007118.2:p.Thr1700Thr/c.5100A>C,acA/acC,LOW,COSM4159595(1),0.81869,0.6984,rs30612,,,,,,chr5,14420027,14420027,A,C,hom,synonymous_variant(LOW|SILENT|acA/acC|p.Thr1700Thr/c.5100A>C|3097|TRIO|protein_coding|CODING|NM_007118.2|34|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6513,0.8271,0.8757,,,,,,,,,,,,,,,,,,,
missense_variant,FAM105A,MISSENSE,NM_019018.2:p.Pro19Ala/c.55C>G,Ccc/Gcc,MODERATE,,0.0503195,0,rs116803888,0.58(T),0.0(B),0(N),-0.9444(T),,chr5,14582058,14582058,C,G,het,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro19Ala/c.55C>G|356|FAM105A|protein_coding|CODING|NM_019018.2|1|1),"K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:Ap2alpha,GM12878:PolII,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1",,,,0.0143,0.049,0.0865,,,,,,1.000(N),2.34(T),0.0001(T),0.215,-1.664911,1.95,-2.28,-0.339000,-0.765000,-0.578000,0.001000,0.000000,0.000000,7.964
synonymous_variant,FAM134B,SILENT,NM_001034850.2:p.Asp272Asp/c.816C>T,gaC/gaT,LOW,,0.677516,0.5526,rs162848,,,,,,chr5,16478200,16478200,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp272Asp/c.816C>T|497|FAM134B|protein_coding|CODING|NM_001034850.2|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp131Asp/c.393C>T|356|FAM134B|protein_coding|CODING|NM_019000.4|5|1)",HUVEC:H3K27me3,,,,0.6125,0.598,0.7356,,,,,,,,,,,,,,,,,,,
missense_variant,MYO10,MISSENSE,NM_012334.2:p.Ser1663Thr/c.4988G>C,aGc/aCc,MODERATE,COSM4159701(1),0.823682,0.7708,rs25901,1(T),"0.006,0.002,0.003(B,B,B)",-0.22(N),-0.9215(T),,chr5,16673975,16673975,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser1663Thr/c.4988G>C|2058|MYO10|protein_coding|CODING|NM_012334.2|36|1),"H1ESC:H3K36me3,CD4:H3K18ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HeLa-S3:H3K36me3",,,,0.8354,0.8055,0.666,,,,,,0.000(P),"-2.88,-2.88,-2.88,-2.88,-2.88(D,D,D,D,D)",0.0000(T),0.037,0.967253,5.41,5.41,-0.242000,1.291000,8.033000,0.988000,1.000000,1.000000,16.4107
missense_variant,MYO10,MISSENSE,NM_012334.2:p.Arg324Trp/c.970C>T,Cgg/Tgg,MODERATE,COSM3761089(2),0.48123,0.5357,rs11750538,0.12(T),0.72(P),1.085(L),-0.9278(T),,chr5,16769273,16769273,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg324Trp/c.970C>T|2058|MYO10|protein_coding|CODING|NM_012334.2|10|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5532,0.4006,0.5984,,,,,,0.000(P),"-2.39,-2.39(D,D)",0.0000(T),0.439,0.947529,5.71,4.82,0.585000,1.359000,2.849000,0.687000,0.769000,0.997000,13.5022
missense_variant,MYO10,MISSENSE,NM_012334.2:p.His148Tyr/c.442C>T,Cac/Tac,MODERATE,COSM3761097(1),0.193291,0.1845,rs7737765,0.03(D),"0.393,0.447(B,P)",2.185(M),-1.1457(T),,chr5,16794780,16794780,G,A,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His148Tyr/c.442C>T|2058|MYO10|protein_coding|CODING|NM_012334.2|4|1),"HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2495,0.1282,0.1183,,,,,,0.000(P),"-0.61,-0.61,-0.61(T,T,T)",0.0002(T),0.215,3.444144,4.76,4.76,0.561000,2.342000,6.606000,0.849000,0.932000,0.993000,18.153
synonymous_variant,MYO10,SILENT,NM_012334.2:p.Ser102Ser/c.306C>T,tcC/tcT,LOW,COSM3761100(2),0.261981,0.244,rs396514,,,,,,chr5,16794916,16794916,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser102Ser/c.306C>T|2058|MYO10|protein_coding|CODING|NM_012334.2|4|1),"HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3722,0.3458,0.4304,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDH18,SILENT,NM_001291956.1:p.Gln203Gln/c.609A>G,caA/caG,LOW,,0.963658,1,rs12187552,,,,,,chr5,19721490,19721490,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln203Gln/c.609A>G|574|CDH18|protein_coding|CODING|NM_001167667.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln203Gln/c.609A>G|790|CDH18|protein_coding|CODING|NM_001291956.1|7|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln203Gln/c.609A>G|575|CDH18|protein_coding|CODING|NM_001291957.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln203Gln/c.609A>G|790|CDH18|protein_coding|CODING|NM_004934.3|5|1)",,,,,1,0.9856,0.998,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDH12,SILENT,NM_004061.3:p.Asp727Asp/c.2181T>C,gaT/gaC,LOW,COSM149801(1),0.548722,0.4355,rs6451992,,,,,,chr5,21752050,21752050,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp727Asp/c.2181T>C|794|CDH12|protein_coding|CODING|NM_004061.3|15|1),,,,,0.636,0.6268,0.7475,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDH12,SILENT,NM_004061.3:p.Asp725Asp/c.2175T>C,gaT/gaC,LOW,COSM149802(2),0.549121,0.4365,rs6451993,,,,,,chr5,21752056,21752056,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp725Asp/c.2175T>C|794|CDH12|protein_coding|CODING|NM_004061.3|15|1),,,,,0.636,0.6282,0.7485,,,,,,,,,,,,,,,,,,,
missense_variant,CDH12,MISSENSE,NM_004061.3:p.Ile284Val/c.850A>G,Att/Gtt,MODERATE,,0.0217652,0.001,rs17328673,1(T),"0.001,0.0(B,B)",-0.49(N),-1.0147(T),,chr5,21817206,21817206,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile284Val/c.850A>G|794|CDH12|protein_coding|CODING|NM_004061.3|9|1),,,,,0.0603,0.013,0.0398,,,,,0.001938(N),0.991(N),"1.25,1.25,1.25(T,T,T)",0.0079(T),0.029,-0.557777,4.97,-0.957,0.477000,-0.474000,0.352000,0.946000,0.972000,0.528000,13.8913
synonymous_variant,CDH12,SILENT,NM_004061.3:p.Pro213Pro/c.639C>G,ccC/ccG,LOW,,0.00239617,0,rs112146213,,,,,,chr5,21854787,21854787,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro213Pro/c.639C>G|794|CDH12|protein_coding|CODING|NM_004061.3|7|1),,,,,0,0.0043,0.0089,,,,,,,,,,,,,,,,,,,
missense_variant,CDH9,MISSENSE,NM_016279.3:p.Ala38Val/c.113C>T,gCg/gTg,MODERATE,COSM3761195(1),0.38139,0.1508,rs2288466,,"0.001,0.0(B,B)",-0.345(N),-0.9216(T),,chr5,26988328,26988328,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala38Val/c.113C>T|789|CDH9|protein_coding|CODING|NM_016279.3|2|1),,,,,0.1861,0.2666,0.4712,,,,,0.717309(N),1.000(P),"0.51,0.4,1.94(T,T,T)",0.0000(T),0.339,-0.205196,5.64,3.28,-0.332000,0.109000,0.479000,0.685000,0.014000,0.000000,8.4322
missense_variant,CDH9,MISSENSE,NM_016279.3:p.Tyr6Cys/c.17A>G,tAt/tGt,MODERATE,,0.325879,0.1518,rs2288467,,"0.001,0.0(B,B)",-0.69(N),-0.9128(T),,chr5,26988424,26988424,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr6Cys/c.17A>G|789|CDH9|protein_coding|CODING|NM_016279.3|2|1),,,,,0.1861,0.2536,0.4712,,,,,0.165778(N),1.000(P),"0.5,0.43,1.97(T,T,T)",0.0000(T),0.414,-1.810275,5.47,2.69,-0.349000,0.021000,0.105000,0.062000,0.003000,0.868000,4.1531
synonymous_variant,CDH6,SILENT,NM_004932.3:p.Asp294Asp/c.882C>T,gaC/gaT,LOW,,0.405152,0.5238,rs2287582,,,,,,chr5,31302288,31302288,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp294Asp/c.882C>T|790|CDH6|protein_coding|CODING|NM_004932.3|6|1),"NH-A:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5266,0.4986,0.5547,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDH6,SILENT,NM_004932.3:p.Leu509Leu/c.1525C>T,Ctg/Ttg,LOW,,0.470048,0.4921,rs2302904,,,,,,chr5,31317494,31317494,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu509Leu/c.1525C>T|790|CDH6|protein_coding|CODING|NM_004932.3|10|1),"NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4683,0.5418,0.5636,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDH6,SILENT,NM_004932.3:p.Gly520Gly/c.1560A>G,ggA/ggG,LOW,,0.503794,0.5268,rs2302903,,,,,,chr5,31317529,31317529,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly520Gly/c.1560A>G|790|CDH6|protein_coding|CODING|NM_004932.3|10|1),"NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5153,0.5317,0.5616,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDH6,SILENT,NM_004932.3:p.His601His/c.1803T>C,caT/caC,LOW,,0.389377,0.4931,rs2229575,,,,,,chr5,31317952,31317952,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His601His/c.1803T>C|790|CDH6|protein_coding|CODING|NM_004932.3|11|1),"H1ESC:USF1,NH-A:H3K36me3,K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,K562:USF1,IMR90:H3K36me3,NHEK:H3K27me3,K562:Rad21,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.4663,0.5043,0.5616,,,,,,,,,,,,,,,,,,,
synonymous_variant,DROSHA,SILENT,NM_013235.4:p.Asn1255Asn/c.3765T>C,aaT/aaC,LOW,COSM4003496(1),0.306909,0.4772,rs2241337,,,,,,chr5,31409252,31409252,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1218Asn/c.3654T>C|1337|DROSHA|protein_coding|CODING|NM_001100412.1|32|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1255Asn/c.3765T>C|1374|DROSHA|protein_coding|CODING|NM_013235.4|32|1)","H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:DNase1,NH-A:DNase1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:Cfos,NHEK:H3K4me2,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.318,0.2839,0.2137,,,,,,,,,,,,,,,,,,,
synonymous_variant,DROSHA,SILENT,NM_013235.4:p.Pro1102Pro/c.3306A>G,ccA/ccG,LOW,COSM4003497(1),0.452875,0.6667,rs2287584,,,,,,chr5,31423007,31423007,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1065Pro/c.3195A>G|1337|DROSHA|protein_coding|CODING|NM_001100412.1|28|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1102Pro/c.3306A>G|1374|DROSHA|protein_coding|CODING|NM_013235.4|28|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3845,0.3213,0.2495,,,,,,,,,,,,,,,,,,,
missense_variant,DROSHA,MISSENSE,NM_013235.4:p.Ser321Leu/c.962C>T,tCg/tTg,MODERATE,COSM4003498(1),0.281949,0.1935,rs386496509,0.29(T),0.0(B),0(N),-0.9190(T),,chr5,31515657,31515657,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser321Leu/c.962C>T|1374|DROSHA|protein_coding|CODING|NM_013235.4|6|1),intron_variant(MODIFIER|||c.948-331C>T|1337|DROSHA|protein_coding|CODING|NM_001100412.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.3559,0.4513,,,,,0.629997(N),1.000(P),"0.92,0.92,0.92(T,T,T)",0.0000(T),0.031,0.027468,3.77,1.96,0.561000,0.557000,0.946000,0.975000,0.005000,0.389000,6.3598
missense_variant,C5orf22,MISSENSE,NM_018356.2:p.Thr235Pro/c.703A>C,Act/Cct,MODERATE,COSM3761196(2),0.196286,0.131,rs17410000,0.14(T),0.478(P),1.245(L),-1.0700(T),,chr5,31538692,31538692,A,C,het,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr235Pro/c.703A>C|442|C5orf22|protein_coding|CODING|NM_018356.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3221,0.1816,0.3141,,,,,0.211437(N),1.000(P),1.48(T),0.0000(T),0.049,1.406699,5.99,-6.83,-0.313000,-1.130000,0.792000,0.001000,0.000000,0.001000,5.4152
synonymous_variant,PDZD2,SILENT,NM_178140.2:p.Ser702Ser/c.2106A>G,tcA/tcG,LOW,,0.878594,0.7579,rs151861,,,,,,chr5,32058115,32058115,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser702Ser/c.2106A>G|2839|PDZD2|protein_coding|CODING|NM_178140.2|11|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.8845,0.8948,0.9433,,,,,,,,,,,,,,,,,,,
missense_variant,ZFR,MISSENSE,NM_016107.3:p.Val461Ile/c.1381G>A,Gtt/Att,MODERATE,,0.91853,0.8631,rs4867440,0.55(T),0.0(B),1.245(L),-1.0012(T),,chr5,32403346,32403346,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val461Ile/c.1381G>A|1074|ZFR|protein_coding|CODING|NM_016107.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8834,0.8775,0.9553,,,,,0.305775(N),1.000(P),3.47(T),0.0000(T),0.022,0.867541,5.95,0.807,-0.490000,-0.069000,-0.128000,0.826000,0.997000,0.073000,6.4772
synonymous_variant,TARS,SILENT,NM_001258438.1:p.Pro535Pro/c.1605G>A,ccG/ccA,LOW,,0.138179,0.127,rs2270905,,,,,,chr5,33461355,33461355,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro502Pro/c.1506G>A|723|TARS|protein_coding|CODING|NM_001258437.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro535Pro/c.1605G>A|756|TARS|protein_coding|CODING|NM_001258438.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro502Pro/c.1506G>A|723|TARS|protein_coding|CODING|NM_152295.4|13|1),non_coding_exon_variant(MODIFIER|||n.1938G>A||TARS||CODING|NR_047676.1|14|1),non_coding_exon_variant(MODIFIER|||n.1656G>A||TARS||CODING|NR_047677.1|12|1),non_coding_exon_variant(MODIFIER|||n.1626G>A||TARS||CODING|NR_047678.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0624,0.1441,0.2356,,,,,,,,,,,,,,,,,,,
missense_variant,ADAMTS12,MISSENSE,NM_030955.2:p.Thr1495Ile/c.4484C>T,aCt/aTt,MODERATE,COSM4003504(1),0.599641,0.7688,rs25754,0.38(T),"0.067,0.043(B,B)",2.32(M),-0.9428(T),,chr5,33535060,33535060,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr1495Ile/c.4484C>T|1594|ADAMTS12|protein_coding|CODING|NM_030955.2|23|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.6748,0.4986,0.3608,,,,,0.005912(N),0.000(P),"0.65,0.65(T,T)",0.0000(T),0.31,2.013407,4.98,4.1,0.563000,2.470000,0.983000,0.853000,0.975000,0.819000,8.6185
missense_variant,ADAMTS12,MISSENSE,NM_030955.2:p.Glu1422Gln/c.4264G>C,Gag/Cag,MODERATE,COSM3774179(1),0.00758786,0,rs112196098,1(T),"0.131,0.63(B,P)",-0.27(N),-1.0117(T),,chr5,33549350,33549350,C,G,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu1422Gln/c.4264G>C|1594|ADAMTS12|protein_coding|CODING|NM_030955.2|21|1),"NH-A:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.001,0.0159,0.0249,,,,,0.001632(N),1.000(D),"0.22,0.22(T,T)",0.0269(T),0.255,0.817706,5.37,4.5,0.650000,1.258000,1.579000,0.900000,0.842000,0.918000,10.8558
missense_variant,ADAMTS12,MISSENSE,NM_030955.2:p.Pro1414Thr/c.4240C>A,Cca/Aca,MODERATE,,0.00758786,0,rs77581578,0.21(T),"0.453,0.265(P,B)",1.96(M),-0.9231(T),,chr5,33549374,33549374,G,T,het,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro1414Thr/c.4240C>A|1594|ADAMTS12|protein_coding|CODING|NM_030955.2|21|1),"NH-A:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.001,0.0159,0.0249,,,,,0.100323(N),1.000(D),"0.21,0.21(T,T)",0.0692(T),0.316,3.997906,5.37,5.37,0.650000,2.508000,3.937000,0.928000,0.929000,0.997000,16.012
missense_variant,ADAMTS12,MISSENSE,NM_030955.2:p.Gly578Arg/c.1732G>A,Ggg/Agg,MODERATE,,,,,0.08(T),"1.0,0.999(D,D)",3.57(H),-0.7835(T),,chr5,33637838,33637838,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly578Arg/c.1732G>A|1594|ADAMTS12|protein_coding|CODING|NM_030955.2|12|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"3.01,3.01(T,T)",0.1496(T),0.95,5.368882,6.03,6.03,0.650000,2.881000,7.626000,0.975000,1.000000,1.000000,20.6398
missense_variant,SLC45A2,MISSENSE,NM_016180.3:p.Leu374Phe/c.1122G>C,ttG/ttC,MODERATE,,0.27496,0.006,rs16891982,0.09(T),"0.962,0.97(D,D)",2.885(M),-0.9607(T),,chr5,33951693,33951693,C,G,hom,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu374Phe/c.1122G>C|460|SLC45A2|protein_coding|CODING|NM_001012509.2|5|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu374Phe/c.1122G>C|530|SLC45A2|protein_coding|CODING|NM_016180.3|5|1),3_prime_UTR_variant(MODIFIER||64|c.*64G>C|243|SLC45A2|protein_coding|CODING|NM_001297417.1|4|1)","HUVEC:H3K27me3,IMR90:H3K27me3","Eye_color,Hair_color,Hair_color,Skin_pigmentation",RCV000004763.1|RCV000022392.1,,0.0593,0.464,0.9384,,,,,0.000014(D),0.000(P),"-1.61,-1.61,-1.61,-1.61,-3.29(D,D,D,D,D)",0.0000(T),0.712,4.142807,6.08,4.32,0.655000,0.917000,1.486000,0.988000,1.000000,1.000000,13.0014
missense_variant,SLC45A2,MISSENSE,NM_001297417.1:p.Ser221Gly/c.661A>G,Agc/Ggc,MODERATE,,0.833067,0.8214,rs2287949,0.04(D),0.0(B),,-0.9370(T),,chr5,33954511,33954511,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser221Gly/c.661A>G|243|SLC45A2|protein_coding|CODING|NM_001297417.1|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr329Thr/c.987A>G|460|SLC45A2|protein_coding|CODING|NM_001012509.2|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr329Thr/c.987A>G|530|SLC45A2|protein_coding|CODING|NM_016180.3|4|1)",IMR90:H3K27me3,,,,0.5777,0.9035,0.9891,,,,,,0.000(P),,0.0000(T),.,1.384789,6.08,-9.46,-2.339000,-1.291000,-2.415000,0.944000,0.907000,0.000000,0.8766
missense_variant,AMACR,MISSENSE,NM_001167595.1:p.Glu277Lys/c.829G>A,Gag/Aag,MODERATE,COSM3761202(1),0.696086,0.876,rs2278008,0.96(T),"0.001,0.0,0.0(B,B,B)",0(N),-0.9477(T),,chr5,33989518,33989518,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu277Lys/c.829G>A|382|AMACR|protein_coding|CODING|NM_014324.5|5|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu277Lys/c.829G>A|394|AMACR|protein_coding|CODING|NM_001167595.1|5|1),3_prime_UTR_variant(MODIFIER||71|c.*71G>A|198|AMACR|protein_coding|CODING|NM_203382.2|4|1),non_coding_exon_variant(MODIFIER|||n.1185G>A||C1QTNF3-AMACR||NON_CODING|NR_037951.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116324.2,,0.3783,0.6484,0.7326,,,,,0.001063(N),0.000(P),"0.75,0.75,0.75(T,T,T)",0.0000(T),0.037,0.207727,5.7,5.7,-0.312000,1.082000,2.046000,0.957000,1.000000,1.000000,6.3198
missense_variant,AMACR,MISSENSE,NM_001167595.1:p.Gln239His/c.717G>T,caG/caT,MODERATE,COSM149809(1),0.114417,0.1706,rs34677,0.02(D),"0.275,0.287,0.32,0.32(B,B,B,B)",1.795(L),-0.9714(T),,chr5,33998768,33998768,C,A,hom,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln239His/c.717G>T|394|AMACR|protein_coding|CODING|NM_001167595.1|4|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln239His/c.717G>T|382|AMACR|protein_coding|CODING|NM_014324.5|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val186Phe/c.556G>T|198|AMACR|protein_coding|CODING|NM_203382.2|3|1),non_coding_exon_variant(MODIFIER|||n.1073G>T||C1QTNF3-AMACR||NON_CODING|NR_037951.1|8|1)","HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000116323.2,,0.136,0.0749,0.1382,,,,,0.000000(D),0.000(P),"0.73,0.73,0.73(T,T,T)",0.0034(T),0.595,1.237003,5.34,3.26,0.563000,1.000000,1.867000,0.391000,1.000000,1.000000,8.5827
missense_variant,AMACR,MISSENSE,NM_001167595.1:p.Leu201Ser/c.602T>C,tTg/tCg,MODERATE,,0.714856,0.8512,rs2287939,0.6(T),"0.007,0.007,0.007(B,B,B)",0.95(L),-0.9904(T),,chr5,33998883,33998883,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu201Ser/c.602T>C|394|AMACR|protein_coding|CODING|NM_001167595.1|4|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu201Ser/c.602T>C|382|AMACR|protein_coding|CODING|NM_014324.5|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile147Ile/c.441T>C|198|AMACR|protein_coding|CODING|NM_203382.2|3|1),non_coding_exon_variant(MODIFIER|||n.958T>C||C1QTNF3-AMACR||NON_CODING|NR_037951.1|8|1)","HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000116322.2,,0.4591,0.7118,0.6928,,,,,0.089451(N),1.000(P),"0.49,0.49,0.64(T,T,T)",0.0000(T),0.084,-1.523064,5.52,-6.14,-1.690000,-1.333000,-0.715000,0.006000,0.000000,0.000000,10.022
synonymous_variant,RAI14,SILENT,NM_001145525.1:p.Val118Val/c.354C>T,gtC/gtT,LOW,COSM3761206(2),0.389776,0.3591,rs6895634,,,,,,chr5,34807928,34807928,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val115Val/c.345C>T|980|RAI14|protein_coding|CODING|NM_001145520.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val115Val/c.345C>T|980|RAI14|protein_coding|CODING|NM_001145521.1|7|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val115Val/c.345C>T|951|RAI14|protein_coding|CODING|NM_001145522.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val107Val/c.321C>T|972|RAI14|protein_coding|CODING|NM_001145523.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val118Val/c.354C>T|983|RAI14|protein_coding|CODING|NM_001145525.1|8|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val115Val/c.345C>T|980|RAI14|protein_coding|CODING|NM_015577.2|6|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4744,0.549,0.4264,,,,,,,,,,,,,,,,,,,
synonymous_variant,RAI14,SILENT,NM_001145525.1:p.Leu160Leu/c.480T>G,ctT/ctG,LOW,COSM4003507(1),0.320088,0.3591,rs2271522,,,,,,chr5,34811137,34811137,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu157Leu/c.471T>G|980|RAI14|protein_coding|CODING|NM_001145520.1|8|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu157Leu/c.471T>G|980|RAI14|protein_coding|CODING|NM_001145521.1|9|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu157Leu/c.471T>G|951|RAI14|protein_coding|CODING|NM_001145522.1|8|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu149Leu/c.447T>G|972|RAI14|protein_coding|CODING|NM_001145523.1|7|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu160Leu/c.480T>G|983|RAI14|protein_coding|CODING|NM_001145525.1|10|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu157Leu/c.471T>G|980|RAI14|protein_coding|CODING|NM_015577.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4172,0.4928,0.3907,,,,,,,,,,,,,,,,,,,
missense_variant,RAI14,MISSENSE,NM_001145525.1:p.Ala873Ser/c.2617G>T,Gct/Tct,MODERATE,COSM3761208(3),0.436502,0.369,rs1048944,0.7(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.27(N),-0.9588(T),,chr5,34824555,34824555,G,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala870Ser/c.2608G>T|980|RAI14|protein_coding|CODING|NM_001145520.1|15|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala870Ser/c.2608G>T|980|RAI14|protein_coding|CODING|NM_001145521.1|16|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala841Ser/c.2521G>T|951|RAI14|protein_coding|CODING|NM_001145522.1|14|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala862Ser/c.2584G>T|972|RAI14|protein_coding|CODING|NM_001145523.1|14|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala873Ser/c.2617G>T|983|RAI14|protein_coding|CODING|NM_001145525.1|17|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala870Ser/c.2608G>T|980|RAI14|protein_coding|CODING|NM_015577.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5481,0.5879,0.4891,,,,,,1.000(P),"2.02,2.02,2.02,2.02,2.02,2.02,2.02(T,T,T,T,T,T,T)",0.0000(T),0.037,1.121851,5.63,4.43,-0.375000,0.385000,0.620000,0.973000,0.132000,0.249000,8.8112
missense_variant,TTC23L,MISSENSE,NM_144725.3:p.His22Arg/c.65A>G,cAt/cGt,MODERATE,COSM4003509(1),0.53774,0.256,rs6451173,0.95(T),0.002(B),1.95(M),-0.9122(T),,chr5,34840841,34840841,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His22Arg/c.65A>G|361|TTC23L|protein_coding|CODING|NM_144725.3|2|1),,,,,0.4213,0.4121,0.5457,,,,,0.811725(N),1.000(P),2.69(T),0.0000(T),0.029,-0.853436,5.34,-1.25,-1.110000,-0.345000,0.234000,0.162000,0.046000,0.013000,5.6206
missense_variant,RAD1,MISSENSE,NM_002853.3:p.Glu281Gly/c.842A>G,gAg/gGg,MODERATE,COSM3761210(1),0.0453275,0.0347,rs1805327,0.04(D),0.027(B),1.59(L),-1.1388(T),,chr5,34908877,34908877,T,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu281Gly/c.842A>G|282|RAD1|protein_coding|CODING|NM_002853.3|6|1),non_coding_exon_variant(MODIFIER|||n.1013A>G||RAD1||CODING|NR_026591.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1094,0.0375,0.0557,,,,,0.003734(N),0.924(N),"2.4,2.4(T,T)",0.0032(T),0.389,3.334864,5.73,5.73,0.533000,2.190000,2.691000,0.753000,0.996000,0.980000,16.0048
synonymous_variant,BRIX1,SILENT,NM_018321.3:p.Thr35Thr/c.105A>G,acA/acG,LOW,,0.0453275,0.0347,rs2069465,,,,,,chr5,34915948,34915948,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr35Thr/c.105A>G|353|BRIX1|protein_coding|CODING|NM_018321.3|1|1),upstream_gene_variant(MODIFIER||217|||RAD1||CODING|NR_026591.1||1),upstream_gene_variant(MODIFIER||168||282|RAD1|protein_coding|CODING|NM_002853.3||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,CD4:CBP,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K56ac,GM12878:ETS1,K562:SP2,IMR90:H4K5ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:SIX5,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:TAF1,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.1094,0.0375,0.0557,,,,,,,,,,,,,,,,,,,
synonymous_variant,DNAJC21,SILENT,NM_194283.3:p.Pro378Pro/c.1134A>G,ccA/ccG,LOW,COSM3761211(1),0.0497204,0.0367,rs17304200,,,,,,chr5,34945122,34945122,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro378Pro/c.1134A>G|531|DNAJC21|protein_coding|CODING|NM_001012339.2|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro378Pro/c.1134A>G|576|DNAJC21|protein_coding|CODING|NM_194283.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.0432,0.0676,,,,,,,,,,,,,,,,,,,
synonymous_variant,DNAJC21,SILENT,NM_194283.3:p.Val514Val/c.1542C>G,gtC/gtG,LOW,COSM3761213(1),0.0493211,0.0367,rs17244979,,,,,,chr5,34954079,34954079,C,G,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val469Val/c.1407C>G|531|DNAJC21|protein_coding|CODING|NM_001012339.2|11|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val514Val/c.1542C>G|576|DNAJC21|protein_coding|CODING|NM_194283.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1104,0.0432,0.0676,,,,,,,,,,,,,,,,,,,
missense_variant,DNAJC21,MISSENSE,NM_194283.3:p.Asn561Ser/c.1682A>G,aAc/aGc,MODERATE,,0.00559105,0,rs35999194,0.25(T),"0.005,0.005(B,B)",0.425(N),-1.0517(T),,chr5,34954770,34954770,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn516Ser/c.1547A>G|531|DNAJC21|protein_coding|CODING|NM_001012339.2|12|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn561Ser/c.1682A>G|576|DNAJC21|protein_coding|CODING|NM_194283.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.002,0.0101,0.0189,,,,,0.000478(N),1.000(N),"1.0,0.95,0.99(T,T,T)",0.0355(T),0.025,1.126598,6.07,-1.19,0.528000,-0.072000,2.080000,0.713000,0.403000,0.991000,6.8321
missense_variant,AGXT2,MISSENSE,NM_031900.3:p.Val498Leu/c.1492G>T,Gta/Tta,MODERATE,,0.235623,0.4216,rs16899974,0.52(T),"0.041,0.006(B,B)",1.355(L),-0.9164(T),,chr5,34998877,34998877,C,A,het,missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val498Leu/c.1492G>T|514|AGXT2|protein_coding|CODING|NM_031900.3|14|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.2914,0.2608,0.2266,,,,,0.052393(N),0.993(P),2.26(T),0.0000(T),0.131,1.005038,5.69,3.85,-0.813000,0.313000,1.044000,0.050000,0.981000,0.992000,10.6159
missense_variant,AGXT2,MISSENSE,NM_031900.3:p.Pro492Arg/c.1475C>G,cCa/cGa,MODERATE,COSM3761215(1),0.0467252,0.0337,rs17245714,0.11(T),"0.017,0.013(B,B)",0.895(L),-1.0276(T),,chr5,34998894,34998894,G,C,het,missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro492Arg/c.1475C>G|514|AGXT2|protein_coding|CODING|NM_031900.3|14|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.1094,0.0432,0.0596,,,,,0.273330(N),0.999(N),2.17(T),0.0030(T),0.144,1.250028,5.56,2.49,-0.252000,0.697000,1.069000,0.651000,0.984000,0.992000,3.9598
synonymous_variant,AGXT2,SILENT,NM_031900.3:p.Gly435Gly/c.1305T>C,ggT/ggC,LOW,COSM4003510(1),0.894569,0.7897,rs466067,,,,,,chr5,35010138,35010138,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly435Gly/c.1305T>C|514|AGXT2|protein_coding|CODING|NM_031900.3|12|1),HUVEC:H3K27me3,,,,0.908,0.9409,1,,,,,,,,,,,,,,,,,,,
missense_variant,AGXT2,MISSENSE,NM_031900.3:p.Thr212Ile/c.635C>T,aCc/aTc,MODERATE,,0.875,0.7788,rs180749,0.43(T),"0.06,0.004(B,B)",1.385(L),-0.9342(T),,chr5,35033605,35033605,G,A,hom,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr212Ile/c.635C>T|514|AGXT2|protein_coding|CODING|NM_031900.3|6|1),"GM12878:H3K36me3,HeLa-S3:H3K27me3,HSMM:H3K27me3",,,,0.9059,0.9323,0.998,,,,,0.000550(N),1.000(P),-2.04(D),0.0000(T),0.109,1.260029,6.01,-5.24,0.650000,-1.019000,-0.967000,0.135000,0.000000,0.000000,3.2137
synonymous_variant,AGXT2,SILENT,NM_031900.3:p.His118His/c.354T>C,caT/caC,LOW,,0.399161,0.2331,rs2279651,,,,,,chr5,35039437,35039437,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His118His/c.354T>C|514|AGXT2|protein_coding|CODING|NM_031900.3|3|1),"HUVEC:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3",,,,0.3333,0.4121,0.5815,,,,,,,,,,,,,,,,,,,
missense_variant,AGXT2,MISSENSE,NM_031900.3:p.Ser102Asn/c.305G>A,aGc/aAc,MODERATE,,0.810503,0.5407,rs37370,0.45(T),"0.0,0.0,0.0(B,B,B)",-2.645(N),-0.9487(T),,chr5,35039486,35039486,C,T,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser102Asn/c.305G>A|514|AGXT2|protein_coding|CODING|NM_031900.3|3|1),"HUVEC:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3",,,,0.8211,0.7089,0.9115,,,,,0.000718(N),1.000(P),2.41(T),0.0000(T),0.015,2.037153,5.67,3.34,-0.254000,0.979000,0.478000,0.979000,1.000000,0.384000,8.0492
missense_variant,SPEF2,MISSENSE,NM_024867.3:p.Asn71His/c.211A>C,Aac/Cac,MODERATE,COSM4159850(1),0.679113,0.7401,rs6897513,1(T),"0.001,0.0,0.0(B,B,B)",-1.845(N),-0.9506(T),,chr5,35641582,35641582,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn71His/c.211A>C|1822|SPEF2|protein_coding|CODING|NM_024867.3|3|1),missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn71His/c.211A>C|514|SPEF2|protein_coding|CODING|NM_144722.3|3|1)",,,,,0.7117,0.6873,0.5278,,,,,0.004513(N),0.000(P),"1.9,1.9,1.9,1.9,1.9(T,T,T,T,T)",0.0000(T),0.086,1.081246,5.93,5.93,-0.121000,1.534000,2.407000,0.993000,1.000000,1.000000,16.7419
synonymous_variant,SPEF2,SILENT,NM_024867.3:p.Ile193Ile/c.579T>C,atT/atC,LOW,,0.784145,0.8869,rs7706444,,,,,,chr5,35644621,35644621,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile193Ile/c.579T>C|1822|SPEF2|protein_coding|CODING|NM_024867.3|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile193Ile/c.579T>C|514|SPEF2|protein_coding|CODING|NM_144722.3|4|1)",CD4:H3K36me3,,,,0.8569,0.768,0.6233,,,,,,,,,,,,,,,,,,,
synonymous_variant,SPEF2,SILENT,NM_024867.3:p.Asp287Asp/c.861C>T,gaC/gaT,LOW,,0.677117,0.7401,rs2270558,,,,,,chr5,35654711,35654711,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp287Asp/c.861C>T|1822|SPEF2|protein_coding|CODING|NM_024867.3|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp287Asp/c.861C>T|514|SPEF2|protein_coding|CODING|NM_144722.3|7|1)",,,,,0.7096,0.683,0.5229,,,,,,,,,,,,,,,,,,,
missense_variant,SPEF2,MISSENSE,NM_024867.3:p.Asp500Asn/c.1498G>A,Gat/Aat,MODERATE,,0.162141,0.3542,rs34708521,0.16(T),"0.996,0.996,0.998(D,D,D)",1.23(L),-0.9677(T),,chr5,35670303,35670303,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp500Asn/c.1498G>A|1822|SPEF2|protein_coding|CODING|NM_024867.3|10|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp500Asn/c.1498G>A|514|SPEF2|protein_coding|CODING|NM_144722.3|10|1)",CD4:H3K4ac,,,,0.1247,0.1499,0.0606,,,,,0.000013(D),0.000(P),"2.29,3.33,2.29,3.33(T,T,T,T)",0.0000(T),0.026,4.158077,5.1,5.1,0.655000,2.515000,6.043000,0.992000,0.994000,1.000000,18.8644
missense_variant,SPEF2,MISSENSE,NM_024867.3:p.Asn616Lys/c.1848T>A,aaT/aaA,MODERATE,COSM4159853(1),0.357029,0.4067,rs7710284,0.54(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9415(T),,chr5,35692775,35692775,T,A,het,missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn616Lys/c.1848T>A|1822|SPEF2|protein_coding|CODING|NM_024867.3|12|1),,,,,0.2505,0.2622,0.1312,,,,,0.990813(N),1.000(P),"3.43,3.3,3.37,1.61(T,T,T,T)",0.0000(T),0.057,-0.023008,5.59,-3.6,-1.539000,-1.373000,-0.388000,0.003000,0.000000,0.000000,4.3977
missense_variant,SPEF2,MISSENSE,NM_024867.3:p.Ala904Val/c.2711C>T,gCt/gTt,MODERATE,COSM3761216(1),,,rs13170082,0.32(T),"0.002,0.002,0.001(B,B,B)",0.55(N),-1.0433(T),,chr5,35709095,35709095,C,T,hom,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala904Val/c.2711C>T|1822|SPEF2|protein_coding|CODING|NM_024867.3|19|1),,,,,,,,,,,,0.803398(N),1.000(P),"3.25,3.31,3.36(T,T,T)",0.0000(T),0.033,1.667681,5.55,-2.83,0.650000,-0.687000,-0.073000,0.986000,0.001000,0.029000,6.6485
missense_variant,SPEF2,MISSENSE,NM_024867.3:p.Ala934Pro/c.2800G>C,Gct/Cct,MODERATE,COSM3761217(1),,,rs13170390,0.29(T),"0.0,0.0,0.0(B,B,B)",-1.5(N),-0.9846(T),,chr5,35709184,35709184,G,C,hom,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala934Pro/c.2800G>C|1822|SPEF2|protein_coding|CODING|NM_024867.3|19|1),,,,,,,,,,,,0.198163(N),1.000(P),"3.26,3.29,3.31(T,T,T)",0.0000(T),0.03,0.457336,4.56,-2.15,-0.752000,-0.922000,-2.504000,0.002000,0.000000,0.000000,0.3986
missense_variant,SPEF2,MISSENSE,NM_024867.3:p.Met1721Thr/c.5162T>C,aTg/aCg,MODERATE,,0.00499201,0,rs147968150,0.14(T),"0.069,0.068,0.044(B,B,B)",1.79(L),-0.9004(T),,chr5,35806960,35806960,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1721Thr/c.5162T>C|1822|SPEF2|protein_coding|CODING|NM_024867.3|35|1),HUVEC:H3K27me3,,,,0.001,0.0086,0.0179,,,,,0.239251(N),1.000(N),"3.26,3.25,0.79(T,T,T)",0.0754(T),0.251,1.303511,5.85,5.85,0.533000,2.234000,4.918000,0.061000,0.996000,1.000000,14.4838
missense_variant,IL7R,MISSENSE,NM_002185.3:p.Ile66Thr/c.197T>C,aTc/aCc,MODERATE,COSM149813(1),0.59984,0.4256,rs1494558,,0.0(B),,-0.9525(T),,chr5,35861068,35861068,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile66Thr/c.197T>C|459|IL7R|protein_coding|CODING|NM_002185.3|2|1),non_coding_exon_variant(MODIFIER|||n.300T>C||IL7R||CODING|NR_120485.1|2|1)","HeLa-S3:DNase1,HSMM:H3K36me3,CD4:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:PolII",,RCV000015964.24|RCV000121212.1,,0.5,0.5418,0.6978,,,,,0.504638(N),1.000(P),"-0.76,-0.76,-0.76,-0.76(T,T,T,T)",0.0000(T),0.028,-1.521583,5.97,2.16,-2.304000,0.111000,0.337000,0.013000,0.999000,0.993000,3.6783
missense_variant,IL7R,MISSENSE,NM_002185.3:p.Val138Ile/c.412G>A,Gtc/Atc,MODERATE,COSM149814(2),0.666933,0.4812,rs1494555,0.38(T),0.0(B),,-0.9741(T),,chr5,35871190,35871190,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val138Ile/c.412G>A|459|IL7R|protein_coding|CODING|NM_002185.3|4|1),non_coding_exon_variant(MODIFIER|||n.515G>A||IL7R||CODING|NR_120485.1|4|1)","HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:PolII",,RCV000015965.24|RCV000121214.1,,0.5378,0.562,0.7038,,,,,0.487950(N),1.000(P),"-1.12,-1.12,-1.12(T,T,T)",0.0000(T),0.059,-1.659720,5.56,-1.61,-1.213000,-0.900000,-0.031000,0.176000,0.001000,0.000000,11.6995
missense_variant,IL7R,MISSENSE,NM_002185.3:p.Thr244Ile/c.731C>T,aCc/aTc,MODERATE,,0.172524,0.1687,rs6897932,0.87(T),0.001(B),0.605(N),-0.8057(T),,chr5,35874575,35874575,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr244Ile/c.731C>T|459|IL7R|protein_coding|CODING|NM_002185.3|6|1),intron_variant(MODIFIER|||n.641-1039C>T||IL7R||CODING|NR_120485.1|4|1)","HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:PolII","Multiple_sclerosis,Multiple_sclerosis,Multiple_sclerosis,Type_1_diabetes",,,0.2117,0.183,0.2714,,,,,0.187788(N),1.000(P),-3.91(D),0.0001(T),0.073,0.602421,5.97,-2.49,0.655000,-0.378000,-0.450000,0.889000,0.000000,0.000000,7.3691
missense_variant,CAPSL,MISSENSE,NM_001042625.1:p.Arg85Gln/c.254G>A,cGg/cAg,MODERATE,,0.525359,0.7609,rs1445898,0.4(T),0.001(B),0.985(L),-0.9770(T),,chr5,35910529,35910529,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg85Gln/c.254G>A|208|CAPSL|protein_coding|CODING|NM_001042625.1|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg85Gln/c.254G>A|208|CAPSL|protein_coding|CODING|NM_144647.3|3|1)",,Type_1_diabetes,,,0.7117,0.5937,0.4523,,,,,0.113949(N),1.000(P),"-0.67,-0.67,-0.67,-0.67(T,T,T,T)",0.0000(T),0.025,-0.210599,5.38,0.531,-1.212000,0.016000,-1.012000,0.133000,0.995000,0.000000,6.8704
missense_variant,UGT3A1,MISSENSE,NM_001171873.1:p.Trp251Arg/c.751T>C,Tgg/Cgg,MODERATE,,0.833067,0.8929,rs1070895,0.13(T),0.0(B),,-1.0258(T),,chr5,35962984,35962984,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp251Arg/c.751T>C|252|UGT3A1|protein_coding|CODING|NM_001171873.1|6|1),intron_variant(MODIFIER|||c.843+2504T>C|523|UGT3A1|protein_coding|CODING|NM_152404.3|4|1)",IMR90:H3K27me3,,,,0.9182,0.8818,0.7763,,,,,,1.000(P),0.99(T),0.0000(T),0.058,-0.379963,.,.,-1.342000,-1.359000,-1.267000,0.053000,0.052000,0.090000,.
missense_variant,UGT3A1,MISSENSE,NM_152404.3:p.Cys121Gly/c.361T>G,Tgt/Ggt,MODERATE,COSM3761220(1),0.212859,0.3849,rs3756669,0(D),"1.0,0.999,1.0,0.999(D,D,D,D)",3.465(M),-1.2296(T),,chr5,35965970,35965970,A,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys67Gly/c.199T>G|252|UGT3A1|protein_coding|CODING|NM_001171873.1|5|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys121Gly/c.361T>G|523|UGT3A1|protein_coding|CODING|NM_152404.3|4|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.3691,0.2233,0.1392,,,,,0.000000(D),0.009(P),"-1.23,-1.23,-1.23,-1.23(T,T,T,T)",0.0000(T),0.336,3.303970,3.0,3.0,0.260000,1.318000,1.899000,0.656000,0.007000,0.021000,10.7944
synonymous_variant,LMBRD2,SILENT,NM_001007527.1:p.Asn76Asn/c.228T>C,aaT/aaC,LOW,COSM1132163(1),0.227037,0.2192,rs12658867,,,,,,chr5,36142648,36142648,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn76Asn/c.228T>C|695|LMBRD2|protein_coding|CODING|NM_001007527.1|3|1),"K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3057,0.2493,0.4056,,,,,,,,,,,,,,,,,,,
synonymous_variant,LMBRD2,SILENT,NM_001007527.1:p.Leu20Leu/c.60G>A,ctG/ctA,LOW,COSM149815(1),0.335663,0.2192,rs267766,,,,,,chr5,36143392,36143392,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu20Leu/c.60G>A|695|LMBRD2|protein_coding|CODING|NM_001007527.1|2|1),"K562:H3K36me3,HepG2:H3K36me3",,,,0.2812,0.2752,0.4066,,,,,,,,,,,,,,,,,,,
missense_variant,RANBP3L,MISSENSE,NM_001161429.1:p.Thr70Arg/c.209C>G,aCa/aGa,MODERATE,,0.80651,0.7083,rs1035480,0.85(T),"0.0,0.0(B,B)",-1.905(N),-0.9711(T),,chr5,36269551,36269551,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr70Arg/c.209C>G|490|RANBP3L|protein_coding|CODING|NM_001161429.1|4|1),missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr70Arg/c.209C>G|465|RANBP3L|protein_coding|CODING|NM_145000.3|4|1)",HUVEC:H3K27me3,,,,0.9417,0.8314,0.9573,,,,,0.001744(N),1.000(P),"2.15,2.15,2.1,1.14(T,T,T,T)",0.0000(T),0.258,-0.515480,4.66,4.66,-0.216000,1.298000,2.210000,0.850000,1.000000,1.000000,11.5794
missense_variant,NIPBL,MISSENSE,NM_133433.3:p.Asn674Ser/c.2021A>G,aAt/aGt,MODERATE,COSM3736917(3),0.1252,0.1329,rs3822471,0.83(T),"0.0,0.001(B,B)",0.695(N),-1.0065(T),,chr5,36985303,36985303,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn674Ser/c.2021A>G|2697|NIPBL|protein_coding|CODING|NM_015384.4|10|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn674Ser/c.2021A>G|2804|NIPBL|protein_coding|CODING|NM_133433.3|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000082482.1|RCV000086371.1,,0.1237,0.1888,0.1054,,,,,0.000240(N),0.592(P),"-3.27,-3.3(D,D)",0.0011(T),0.011,0.062284,5.98,2.31,0.528000,0.160000,0.421000,0.987000,0.999000,0.250000,4.765
synonymous_variant,C5orf42,SILENT,NM_023073.3:p.Ala2757Ala/c.8271T>C,gcT/gcC,LOW,,,,,,,,,,chr5,37148311,37148311,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala2757Ala/c.8271T>C|3197|C5orf42|protein_coding|CODING|NM_023073.3|42|1),"HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,C5orf42,MISSENSE,NM_023073.3:p.Ala2757Val/c.8270C>T,gCt/gTt,MODERATE,,,,rs140657139,0.06(T),"0.15,0.783(B,P)",1.445(L),-1.0866(T),,chr5,37148312,37148312,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala2757Val/c.8270C>T|3197|C5orf42|protein_coding|CODING|NM_023073.3|42|1),"HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.149718(N),0.999(N),"1.89,1.89,1.89,1.89(T,T,T,T)",0.0845(T),0.208,3.191721,5.29,3.46,0.563000,1.446000,1.859000,0.896000,0.592000,0.962000,8.2024
missense_variant,C5orf42,MISSENSE,NM_023073.3:p.Ala2757Thr/c.8269G>A,Gct/Act,MODERATE,,,,,0.05(D),"0.066,0.856(B,P)",1.445(L),-1.0619(T),,chr5,37148313,37148313,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala2757Thr/c.8269G>A|3197|C5orf42|protein_coding|CODING|NM_023073.3|42|1),"HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.149718(N),1.000(N),"1.92,1.92,1.92,1.92(T,T,T,T)",0.0726(T),0.201,4.587972,5.29,-1.36,0.563000,-0.142000,-0.262000,0.898000,0.030000,0.010000,3.1649
missense_variant,C5orf42,MISSENSE,NM_023073.3:p.Leu2756Ile/c.8266T>A,Tta/Ata,MODERATE,,,,,0.43(T),"0.022,0.306(B,B)",1.32(L),-1.0810(T),,chr5,37148316,37148316,A,T,het,missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu2756Ile/c.8266T>A|3197|C5orf42|protein_coding|CODING|NM_023073.3|42|1),"HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.639566(N),1.000(N),"1.85,1.85,1.84,1.85(T,T,T,T)",0.0344(T),0.084,4.266571,5.15,-10.3,0.379000,-1.864000,-0.864000,0.889000,0.000000,0.000000,3.6005
missense_variant,C5orf42,MISSENSE,NM_023073.3:p.Phe2033Cys/c.6098T>G,tTc/tGc,MODERATE,COSM1437344(2),0.172724,0.0903,rs10076911,0.26(T),"0.0,0.0(B,B)",-0.69(N),-0.9124(T),,chr5,37173930,37173930,A,C,het,missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe2033Cys/c.6098T>G|3197|C5orf42|protein_coding|CODING|NM_023073.3|32|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.1614,0.0954,,,,,0.148489(N),1.000(P),"1.97,1.97,1.97,1.97(T,T,T,T)",0.0000(T),0.074,0.491699,5.81,3.76,-1.087000,0.198000,1.126000,0.039000,0.001000,0.003000,3.687
missense_variant,C5orf42,MISSENSE,NM_023073.3:p.Pro1794Leu/c.5381C>T,cCc/cTc,MODERATE,COSM3761221(1),0.0948482,0.0665,rs75589774,1(T),"0.155,0.081(B,B)",0.345(N),-1.0378(T),,chr5,37182902,37182902,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1794Leu/c.5381C>T|3197|C5orf42|protein_coding|CODING|NM_023073.3|26|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1125,0.1326,0.0954,,,,,0.075615(N),0.998(P),"2.28,2.28,2.28,2.28(T,T,T,T)",0.0001(T),0.313,2.505049,4.8,4.8,0.591000,2.379000,2.926000,0.878000,0.995000,0.999000,7.7471
synonymous_variant,NUP155,SILENT,NM_153485.2:p.Leu1296Leu/c.3888A>G,ttA/ttG,LOW,COSM149816(2),0.277157,0.3829,rs1045908,,,,,,chr5,37294473,37294473,T,C,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1232Leu/c.3696A>G|1327|NUP155|protein_coding|CODING|NM_001278312.1|32|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1237Leu/c.3711A>G|1332|NUP155|protein_coding|CODING|NM_004298.3|33|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1296Leu/c.3888A>G|1391|NUP155|protein_coding|CODING|NM_153485.2|33|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3436,0.3156,0.2972,,,,,,,,,,,,,,,,,,,
synonymous_variant,NUP155,SILENT,NM_153485.2:p.Leu67Leu/c.201G>A,ttG/ttA,LOW,,0.969649,1,rs217852,,,,,,chr5,37364443,37364443,C,T,hom,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu67Leu/c.201G>A|1327|NUP155|protein_coding|CODING|NM_001278312.1|2|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu8Leu/c.24G>A|1332|NUP155|protein_coding|CODING|NM_004298.3|2|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu67Leu/c.201G>A|1391|NUP155|protein_coding|CODING|NM_153485.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,,,,,,,,,,,,,,,,,,,
missense_variant,EGFLAM,MISSENSE,NM_001205301.1:p.Arg111His/c.332G>A,cGt/cAt,MODERATE,COSM149817(2),0.0832668,0.1419,rs2561111,0.03(D),"0.867,0.79(P,P)",2.355(M),-0.9948(T),,chr5,38350643,38350643,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg111His/c.332G>A|1017|EGFLAM|protein_coding|CODING|NM_001205301.1|4|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg111His/c.332G>A|1009|EGFLAM|protein_coding|CODING|NM_152403.3|4|1)",,,,,0.0818,0.0591,0.1183,,,,,0.011451(N),0.919(P),"0.39,0.39(T,T)",0.0037(T),0.084,3.041296,4.92,0.979,0.462000,-0.120000,0.255000,0.345000,0.553000,0.761000,4.9572
missense_variant,LIFR,MISSENSE,NM_001127671.1:p.Val785Ile/c.2353G>A,Gtt/Att,MODERATE,,0.138379,0.0218,rs3110234,0.37(T),0.097(B),1.04(L),-1.0181(T),,chr5,38486065,38486065,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val785Ile/c.2353G>A|1097|LIFR|protein_coding|CODING|NM_001127671.1|17|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val785Ile/c.2353G>A|1097|LIFR|protein_coding|CODING|NM_002310.5|17|1)","IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1493,0.2666,0.1869,,,,,0.024293(N),0.961(P),"0.45,0.45(T,T)",0.0000(T),0.049,1.632615,5.43,3.61,0.563000,0.622000,0.357000,0.836000,0.948000,0.985000,8.5351
synonymous_variant,RICTOR,SILENT,NM_001285439.1:p.Ser1058Ser/c.3174C>T,agC/agT,LOW,,0.949481,0.9881,rs2115949,,,,,,chr5,38950776,38950776,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser1058Ser/c.3174C>T|1732|RICTOR|protein_coding|CODING|NM_001285439.1|31|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser773Ser/c.2319C>T|1385|RICTOR|protein_coding|CODING|NM_001285440.1|31|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser1058Ser/c.3174C>T|1708|RICTOR|protein_coding|CODING|NM_152756.4|31|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.91,0.9741,0.9861,,,,,,,,,,,,,,,,,,,
missense_variant,RICTOR,MISSENSE,NM_001285439.1:p.Ser837Phe/c.2510C>T,tCc/tTc,MODERATE,COSM4003526(1),0.363818,0.4494,rs2043112,0(D),"0.004,0.074(B,B)",0(N),-0.9514(T),,chr5,38955796,38955796,G,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser837Phe/c.2510C>T|1732|RICTOR|protein_coding|CODING|NM_001285439.1|26|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser552Phe/c.1655C>T|1385|RICTOR|protein_coding|CODING|NM_001285440.1|26|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser837Phe/c.2510C>T|1708|RICTOR|protein_coding|CODING|NM_152756.4|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",Obesity_related_traits,,,0.3436,0.3631,0.4284,,,,,0.000403(D),0.433(P),"-0.41,0.93(T,T)",0.0000(T),0.216,0.530458,5.73,4.77,0.650000,1.258000,4.186000,0.751000,1.000000,1.000000,7.1014
missense_variant,FYB,MISSENSE,NM_001243093.1:p.Val728Phe/c.2182G>T,Gtt/Ttt,MODERATE,COSM4003529(1),0.511781,0.4147,rs379707,0.62(T),"0.0,0.0(B,B)",0(N),-0.9500(T),,chr5,39119723,39119723,C,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val728Phe/c.2182G>T|839|FYB|protein_coding|CODING|NM_001243093.1|15|1),missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val718Phe/c.2152G>T|829|FYB|protein_coding|CODING|NM_001465.4|15|1),missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val672Phe/c.2014G>T|783|FYB|protein_coding|CODING|NM_199335.3|14|1)",,,,,0.7035,0.683,0.6849,,,,,0.378832(N),1.000(P),"1.96,1.96,1.95,1.95,1.95(T,T,T,T,T)",0.0000(T),0.112,-1.390805,3.6,-2.24,-0.383000,-0.001000,-0.657000,0.140000,0.034000,0.001000,0.6631
synonymous_variant,CARD6,SILENT,NM_032587.3:p.Thr339Thr/c.1017C>G,acC/acG,LOW,,0.998602,0.9931,rs188934,,,,,,chr5,40852451,40852451,C,G,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr339Thr/c.1017C>G|1037|CARD6|protein_coding|CODING|NM_032587.3|3|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,C7,MISSENSE,NM_000587.2:p.Ser389Thr/c.1166G>C,aGt/aCt,MODERATE,COSM3761227(2),0.48123,0.5218,rs1063499,0.12(T),0.666(P),2.545(M),-0.9028(T),,chr5,40955561,40955561,G,C,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser389Thr/c.1166G>C|843|C7|protein_coding|CODING|NM_000587.2|10|1),HUVEC:DNase1,,,,0.5348,0.5317,0.5855,,,,,0.047475(N),1.000(P),-0.1(T),0.0000(T),0.111,2.712446,5.26,1.41,0.655000,0.031000,1.379000,0.789000,0.049000,0.790000,7.182
missense_variant,C7,MISSENSE,NM_000587.2:p.Thr587Pro/c.1759A>C,Aca/Cca,MODERATE,COSM3761228(1),0.192692,0.2133,rs13157656,0.19(T),0.005(B),0.835(L),-1.0473(T),,chr5,40964852,40964852,A,C,hom,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr587Pro/c.1759A>C|843|C7|protein_coding|CODING|NM_000587.2|14|1),,,,,0.3558,0.2089,0.2207,,,,,0.465951(N),1.000(P),-0.07(T),0.0000(T),0.04,2.391395,6.17,-4.69,-0.327000,-0.366000,-1.442000,0.625000,0.040000,0.000000,0.5007
missense_variant,MROH2B,MISSENSE,NM_173489.4:p.Leu1179Pro/c.3536T>C,cTc/cCc,MODERATE,,0.78155,0.5913,rs2271704,1(T),0.0(B),-0.695(N),-1.0345(T),,chr5,41008780,41008780,A,G,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1179Pro/c.3536T>C|1585|MROH2B|protein_coding|CODING|NM_173489.4|33|1),GM06990:H3K27me3,,,,0.7914,0.8343,0.8141,,,,,0.112547(N),0.427(P),"4.93,5.18(T,T)",0.0000(T),0.199,-1.078163,5.97,4.18,-0.215000,0.875000,1.511000,0.482000,0.655000,0.995000,7.49
missense_variant,MROH2B,MISSENSE,NM_173489.4:p.Asn918Lys/c.2754T>A,aaT/aaA,MODERATE,,0.345647,0.245,rs10054110,0.29(T),0.003(B),0(N),-0.9656(T),,chr5,41018452,41018452,A,T,hom,missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn918Lys/c.2754T>A|1585|MROH2B|protein_coding|CODING|NM_173489.4|27|1),,,,,0.4213,0.3905,0.3549,,,,,0.052357(N),1.000(P),"-0.14,-0.35(T,T)",0.0000(T),0.05,0.441664,5.96,2.18,0.533000,0.133000,0.066000,0.307000,0.093000,0.005000,4.1221
synonymous_variant,MROH2B,SILENT,NM_173489.4:p.Thr621Thr/c.1863C>A,acC/acA,LOW,COSM4159875(1),0.714657,0.6657,rs325854,,,,,,chr5,41042284,41042284,G,T,hom,synonymous_variant(LOW|SILENT|acC/acA|p.Thr621Thr/c.1863C>A|1585|MROH2B|protein_coding|CODING|NM_173489.4|19|1),,,,,0.7924,0.781,0.835,,,,,,,,,,,,,,,,,,,
synonymous_variant,MROH2B,SILENT,NM_173489.4:p.Thr498Thr/c.1494A>G,acA/acG,LOW,,0.80631,0.6776,rs325863,,,,,,chr5,41049389,41049389,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr498Thr/c.1494A>G|1585|MROH2B|protein_coding|CODING|NM_173489.4|14|1),HUVEC:H3K27me3,,,,0.8476,0.8271,0.8877,,,,,,,,,,,,,,,,,,,
missense_variant,MROH2B,MISSENSE,NM_173489.4:p.Val496Ile/c.1486G>A,Gtc/Atc,MODERATE,,0.80611,0.6776,rs325864,0.49(T),0.001(B),-0.805(N),-1.0875(T),,chr5,41049397,41049397,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val496Ile/c.1486G>A|1585|MROH2B|protein_coding|CODING|NM_173489.4|14|1),HUVEC:H3K27me3,,,,0.8466,0.8271,0.8877,,,,,0.378233(N),1.000(P),"3.15,3.15(T,T)",0.0000(T),0.038,0.714805,5.18,-1.98,-0.269000,-0.463000,-1.862000,0.972000,0.990000,0.011000,5.3796
stop_gained,MROH2B,NONSENSE,NM_173489.4:p.Trp191*/c.572G>A,tGg/tAg,HIGH,,0.208267,0.2996,rs1023840,0.02(D),,,,MROH2B:1.00(1);MROH2B:1.00(1);,chr5,41061715,41061715,C,T,het,stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp191*/c.572G>A|1585|MROH2B|protein_coding|CODING|NM_173489.4|6|1),,,,,0.3006,0.3329,0.1819,,,,,0.016016(N),0.000(P),,,.,8.282932,5.81,2.91,0.655000,0.299000,-0.147000,0.991000,0.992000,0.586000,6.9332
missense_variant,MROH2B,MISSENSE,NM_173489.4:p.Trp191Arg/c.571T>C,Tgg/Cgg,MODERATE,,0.783746,0.6617,rs865093,0.44(T),0.0(B),-2.085(N),-0.9829(T),,chr5,41061716,41061716,A,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp191Arg/c.571T>C|1585|MROH2B|protein_coding|CODING|NM_173489.4|6|1),,,,,0.8262,0.7608,0.8459,,,,,0.016016(N),0.000(P),3.6(T),0.0000(T),0.068,-0.008670,5.81,3.94,-0.119000,1.485000,1.434000,0.991000,1.000000,0.971000,5.0558
synonymous_variant,C6,SILENT,NM_000065.3:p.Asp627Asp/c.1881C>T,gaC/gaT,LOW,,0.998203,0.9911,rs6866352,,,,,,chr5,41158863,41158863,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp627Asp/c.1881C>T|934|C6|protein_coding|CODING|NM_000065.3|13|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp627Asp/c.1881C>T|934|C6|protein_coding|CODING|NM_001115131.2|13|1)",,,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,C6,MISSENSE,NM_000065.3:p.Ala119Glu/c.356C>A,gCg/gAg,MODERATE,COSM4159876(1),0.553914,0.4395,rs1801033,0.41(T),0.001(B),-0.99(N),-1.0089(T),,chr5,41199959,41199959,G,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala119Glu/c.356C>A|934|C6|protein_coding|CODING|NM_000065.3|4|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala119Glu/c.356C>A|934|C6|protein_coding|CODING|NM_001115131.2|4|1)",,,,,0.5818,0.5519,0.6451,,,,,0.000017(N),1.000(P),"2.28,2.28,2.28(T,T,T)",0.0000(T),0.296,-0.413665,6.02,6.02,-0.264000,1.101000,2.551000,0.385000,1.000000,0.977000,12.7741
synonymous_variant,GHR,SILENT,NM_001242399.2:p.Gly193Gly/c.579A>G,ggA/ggG,LOW,,0.641573,0.8165,rs6179,,,,,,chr5,42700044,42700044,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_000163.4|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly193Gly/c.579A>G|645|GHR|protein_coding|CODING|NM_001242399.2|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_001242400.2|7|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_001242401.3|7|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_001242402.2|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_001242403.2|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_001242404.2|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_001242405.2|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|638|GHR|protein_coding|CODING|NM_001242406.2|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly164Gly/c.492A>G|616|GHR|protein_coding|CODING|NM_001242460.1|4|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|295|GHR|protein_coding|CODING|NM_001242462.1|5|1)",,,,,0.6626,0.7651,0.6819,,,,,,,,,,,,,,,,,,,
missense_variant,GHR,MISSENSE,NM_001242399.2:p.Ile551Leu/c.1651A>C,Atc/Ctc,MODERATE,COSM3761233(2),0.444489,0.5694,rs6180,0.08(T),0.897(P),3.585(H),-0.9084(T),,chr5,42719239,42719239,A,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_000163.4|10|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile551Leu/c.1651A>C|645|GHR|protein_coding|CODING|NM_001242399.2|10|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_001242400.2|11|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_001242401.3|11|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_001242402.2|10|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_001242403.2|10|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_001242404.2|10|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_001242405.2|10|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile544Leu/c.1630A>C|638|GHR|protein_coding|CODING|NM_001242406.2|9|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile522Leu/c.1564A>C|616|GHR|protein_coding|CODING|NM_001242460.1|8|1),3_prime_UTR_variant(MODIFIER||672|c.*672A>C|295|GHR|protein_coding|CODING|NM_001242462.1|8|1)","CD4:H2BK5ac,CD4:H2BK20ac,GM12878:H3K36me3,CD4:H3K4me1,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000009190.1,,0.4622,0.4006,0.4185,,,,,0.073576(N),1.000(P),"1.3,1.3,1.3(T,T,T)",0.0000(T),0.286,2.482225,6.08,3.43,0.482000,1.135000,1.574000,0.529000,0.951000,0.991000,5.4155
synonymous_variant,C5orf34,SILENT,NM_198566.3:p.Asn443Asn/c.1329C>T,aaC/aaT,LOW,,0.99401,1,rs10039298,,,,,,chr5,43492978,43492978,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn443Asn/c.1329C>T|638|C5orf34|protein_coding|CODING|NM_198566.3|9|1),"HUVEC:H3K36me3,K562:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,C5orf34,SILENT,NM_198566.3:p.Asn263Asn/c.789T>C,aaT/aaC,LOW,COSM3761241(1),0.401957,0.0893,rs7710628,,,,,,chr5,43505993,43505993,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn263Asn/c.789T>C|638|C5orf34|protein_coding|CODING|NM_198566.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3303,0.3818,0.503,,,,,,,,,,,,,,,,,,,
missense_variant,C5orf34,MISSENSE,NM_198566.3:p.Thr32Ser/c.94A>T,Act/Tct,MODERATE,,0.99401,1,rs6872851,1(T),0.0(B),-2.28(N),-0.9607(T),,chr5,43509348,43509348,T,A,hom,missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr32Ser/c.94A>T|638|C5orf34|protein_coding|CODING|NM_198566.3|2|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,,,,,0.000137(N),1.000(P),1.55(T),0.0000(T),0.145,2.963604,5.26,5.26,-0.265000,0.951000,2.375000,0.994000,1.000000,1.000000,10.3541
synonymous_variant,NNT,SILENT,NM_012343.3:p.Leu16Leu/c.46C>T,Cta/Tta,LOW,COSM149827(1),0.558506,0.2014,rs10057103,,,,,,chr5,43609343,43609343,C,T,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu16Leu/c.46C>T|1086|NNT|protein_coding|CODING|NM_012343.3|2|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu16Leu/c.46C>T|1086|NNT|protein_coding|CODING|NM_182977.2|2|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4519,0.451,0.5885,,,,,,,,,,,,,,,,,,,
missense_variant,MRPS30,MISSENSE,NM_016640.3:p.Cys33Ser/c.98G>C,tGc/tCc,MODERATE,COSM1486797(2),0.398562,0.5357,rs3747479,0.58(T),0.002(B),0(N),-0.9230(T),,chr5,44809162,44809162,G,C,hom,"missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys33Ser/c.98G>C|439|MRPS30|protein_coding|CODING|NM_016640.3|1|1),upstream_gene_variant(MODIFIER||267|||LOC100506674||NON_CODING|NR_109862.1||1),upstream_gene_variant(MODIFIER||267|||LOC100506674||NON_CODING|NR_109863.1||1),upstream_gene_variant(MODIFIER||267|||LOC100506674||NON_CODING|NR_109864.1||1),upstream_gene_variant(MODIFIER||267|||LOC100506674||NON_CODING|NR_109865.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,HepG2:HNF4A,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,IMR90:H4K8ac,K562:E2F4,GM12878:Sin3Ak20",,,,0.4479,0.4553,0.3738,,,,,0.017754(N),1.000(P),2.35(T),0.0000(T),0.009,0.335379,5.14,-0.478,0.655000,0.066000,0.300000,0.004000,0.000000,0.000000,4.9665
synonymous_variant,PARP8,SILENT,NM_001178055.1:p.Gly140Gly/c.420G>T,ggG/ggT,LOW,,0.0990415,0.1091,rs282547,,,,,,chr5,50057729,50057729,G,T,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly140Gly/c.420G>T|854|PARP8|protein_coding|CODING|NM_001178055.1|7|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly140Gly/c.420G>T|812|PARP8|protein_coding|CODING|NM_001178056.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly140Gly/c.420G>T|854|PARP8|protein_coding|CODING|NM_024615.3|6|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.2096,0.0764,0.0567,,,,,,,,,,,,,,,,,,,
synonymous_variant,ISL1,SILENT,NM_002202.2:p.Pro168Pro/c.504A>G,ccA/ccG,LOW,COSM3761247(5),0.377396,0.1815,rs2303751,0(D),,,-1.0187(T),,chr5,50685505,50685505,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro168Pro/c.504A>G|349|ISL1|protein_coding|CODING|NM_002202.2|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3384,0.3458,0.3598,,,,,,0.000(P),,0.0000(T),.,1.323410,6.02,-10.7,-0.718000,-2.323000,-3.677000,0.977000,0.275000,0.000000,7.9115
missense_variant,PELO,MISSENSE,NM_015946.4:p.Leu221Met/c.661C>A,Ctg/Atg,MODERATE,,0.899361,0.8472,rs1499280,0.82(T),0.136(B),-0.595(N),-0.9825(T),,chr5,52096889,52096889,C,A,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu221Met/c.661C>A|385|PELO|protein_coding|CODING|NM_015946.4|2|1),intron_variant(MODIFIER|||c.61+12641C>A|1179|ITGA1|protein_coding|CODING|NM_181501.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1",,,,0.9182,0.8977,0.9264,,,,,0.000505(N),0.000(P),0.73(T),0.0000(T),0.065,-0.433787,5.25,5.25,-0.362000,1.023000,2.870000,0.993000,1.000000,1.000000,11.2096
synonymous_variant,ITGA1,SILENT,NM_181501.1:p.Cys92Cys/c.276T>C,tgT/tgC,LOW,,0.76238,0.5992,rs2447867,,,,,,chr5,52157374,52157374,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys92Cys/c.276T>C|1179|ITGA1|protein_coding|CODING|NM_181501.1|3|1),"IMR90:H3K36me3,HepG2:H3K36me3,HMEC:DNase1",,,,0.7873,0.7147,0.833,,,,,,,,,,,,,,,,,,,
synonymous_variant,NDUFS4,SILENT,NM_002495.2:p.Val4Val/c.12G>C,gtG/gtC,LOW,COSM4159886(1),0.680911,0.6448,rs2279516,,,,,,chr5,52856504,52856504,G,C,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val4Val/c.12G>C|175|NDUFS4|protein_coding|CODING|NM_002495.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,H1ESC:Yy1,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:TAF1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,RCV000117713.2,,0.6135,0.6715,0.5934,,,,,,,,,,,,,,,,,,,
synonymous_variant,NDUFS4,SILENT,NM_002495.2:p.Gly66Gly/c.198A>C,ggA/ggC,LOW,,0.94349,0.871,rs31304,,,,,,chr5,52942083,52942083,A,C,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly66Gly/c.198A>C|175|NDUFS4|protein_coding|CODING|NM_002495.2|3|1),"HMEC:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,RCV000117714.2,,0.9438,0.9726,0.9602,,,,,,,,,,,,,,,,,,,
synonymous_variant,NDUFS4,SILENT,NM_002495.2:p.Arg104Arg/c.312A>G,agA/agG,LOW,COSM4159887(1),0.80012,0.7946,rs31303,,,,,,chr5,52942197,52942197,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg104Arg/c.312A>G|175|NDUFS4|protein_coding|CODING|NM_002495.2|3|1),"HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,RCV000117715.2,,0.7597,0.8199,0.7565,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARL15,SILENT,NM_019087.2:p.Arg5Arg/c.15A>G,cgA/cgG,LOW,COSM4159890(3),0.826478,0.7192,rs35941,,,,,,chr5,53606295,53606295,T,C,hom,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg5Arg/c.15A>G|204|ARL15|protein_coding|CODING|NM_019087.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,K562:GTF2B,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HUVEC:FAIRE,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.7914,0.7954,0.8449,,,,,,,,,,,,,,,,,,,
synonymous_variant,HSPB3,SILENT,NM_006308.2:p.Leu94Leu/c.282G>A,ctG/ctA,LOW,,0.482628,0.369,rs7699,,,,,,chr5,53751901,53751901,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu94Leu/c.282G>A|150|HSPB3|protein_coding|CODING|NM_006308.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,HSMM:DNase1,HSMM:H3K9ac,HSMM:H3K4me3",,,,0.544,0.4597,0.6223,,,,,,,,,,,,,,,,,,,
synonymous_variant,HSPB3,SILENT,NM_006308.2:p.Gly123Gly/c.369T>C,ggT/ggC,LOW,COSM1132147(1),0.577875,0.376,rs7823,,,,,,chr5,53751988,53751988,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly123Gly/c.369T>C|150|HSPB3|protein_coding|CODING|NM_006308.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,HSMM:DNase1,HSMM:H3K9ac,HSMM:H3K4me3",,,,0.5481,0.4899,0.6352,,,,,,,,,,,,,,,,,,,
synonymous_variant,SNX18,SILENT,NM_052870.2:p.Pro16Pro/c.48A>C,ccA/ccC,LOW,COSM1132144(4),0.235623,0.1746,rs76854460,,,,,,chr5,53813830,53813830,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro16Pro/c.48A>C|591|SNX18|protein_coding|CODING|NM_001145427.1|1|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro16Pro/c.48A>C|624|SNX18|protein_coding|CODING|NM_001102575.1|1|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro16Pro/c.48A>C|628|SNX18|protein_coding|CODING|NM_052870.2|1|1)","K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6",,,,0.2699,0.2622,0.4046,,,,,,,,,,,,,,,,,,,
synonymous_variant,SNX18,SILENT,NM_052870.2:p.Pro90Pro/c.270T>C,ccT/ccC,LOW,COSM3761258(2),0.989018,1,rs2548615,,,,,,chr5,53814052,53814052,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro90Pro/c.270T>C|591|SNX18|protein_coding|CODING|NM_001145427.1|1|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro90Pro/c.270T>C|624|SNX18|protein_coding|CODING|NM_001102575.1|1|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro90Pro/c.270T>C|628|SNX18|protein_coding|CODING|NM_052870.2|1|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:H3K4me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,K562:E2F6,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.9949,0.9942,0.9901,,,,,,,,,,,,,,,,,,,
synonymous_variant,SNX18,SILENT,NM_052870.2:p.Gly204Gly/c.612T>C,ggT/ggC,LOW,COSM3749936(15),0.989217,1,rs2548614,,,,,,chr5,53814394,53814394,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly204Gly/c.612T>C|591|SNX18|protein_coding|CODING|NM_001145427.1|1|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly204Gly/c.612T>C|624|SNX18|protein_coding|CODING|NM_001102575.1|1|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly204Gly/c.612T>C|628|SNX18|protein_coding|CODING|NM_052870.2|1|1)","H1ESC:H3K36me3,K562:H3K4me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,K562:E2F6,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9949,0.9942,0.9901,,,,,,,,,,,,,,,,,,,
synonymous_variant,SNX18,SILENT,NM_052870.2:p.Ile428Ile/c.1284C>A,atC/atA,LOW,COSM4159894(1),0.347444,0.2897,rs2548613,,,,,,chr5,53815066,53815066,C,A,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile428Ile/c.1284C>A|591|SNX18|protein_coding|CODING|NM_001145427.1|1|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile428Ile/c.1284C>A|624|SNX18|protein_coding|CODING|NM_001102575.1|1|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile428Ile/c.1284C>A|628|SNX18|protein_coding|CODING|NM_052870.2|1|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K36me3,CD4:H2BK5me1,IMR90:H3K27ac,CD4:H3K4me1,NHEK:H3K36me3,HSMM:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.2648,0.3674,0.4056,,,,,,,,,,,,,,,,,,,
synonymous_variant,SNX18,SILENT,NM_052870.2:p.Ser486Ser/c.1458G>C,tcG/tcC,LOW,COSM3761259(1),0.323083,0.4831,rs61739378,,,,,,chr5,53815240,53815240,G,C,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser486Ser/c.1458G>C|591|SNX18|protein_coding|CODING|NM_001145427.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser486Ser/c.1458G>C|624|SNX18|protein_coding|CODING|NM_001102575.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser486Ser/c.1458G>C|628|SNX18|protein_coding|CODING|NM_052870.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K4me3,HSMM:H3K4me2,K562:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,IMR90:H3K27ac,CD4:H3K4me1,NHEK:H3K36me3,HUVEC:H3K4me1,CD4:H3K4me2,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.3456,0.3545,0.2286,,,,,,,,,,,,,,,,,,,
missense_variant,SNX18,MISSENSE,NM_052870.2:p.Glu571Asp/c.1713A>C,gaA/gaC,MODERATE,COSM4003556(2),0.486621,0.4524,rs2548612,1(T),0.0(B),0(N),-0.9509(T),,chr5,53815495,53815495,A,C,het,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu571Asp/c.1713A>C|591|SNX18|protein_coding|CODING|NM_001145427.1|1|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu571Asp/c.1713A>C|628|SNX18|protein_coding|CODING|NM_052870.2|1|1),intron_variant(MODIFIER|||c.1621+92A>C|624|SNX18|protein_coding|CODING|NM_001102575.1|1|1)","H1ESC:H3K36me3,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K4me2,K562:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,IMR90:H3K27ac,CD4:H3K4me1,NHEK:H3K36me3,NHEK:H3K4me2,HUVEC:H3K4me1,CD4:H3K4me2,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.4581,0.5303,0.5666,,,,,0.065697(N),1.000(P),"2.6,2.71(T,T)",0.0000(T),0.021,-1.201963,2.61,-0.586,-0.217000,-0.498000,-0.800000,0.020000,0.000000,0.000000,0.4701
missense_variant,GZMA,MISSENSE,NM_006144.3:p.Met121Thr/c.362T>C,aTg/aCg,MODERATE,,0.98123,1,rs3104233,0.37(T),0.0(B),-0.86(N),-0.9943(T),,chr5,54403957,54403957,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met121Thr/c.362T>C|262|GZMA|protein_coding|CODING|NM_006144.3|4|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.999,0.9899,0.9761,,,,,0.492435(N),1.000(P),-2.3(D),0.0000(T),0.18,-0.153770,6.03,-0.872,-2.208000,-0.302000,0.556000,0.000000,0.001000,0.000000,1.6535
synonymous_variant,GZMA,SILENT,NM_006144.3:p.Asp140Asp/c.420C>T,gaC/gaT,LOW,,0.98123,1,rs1875506,,,,,,chr5,54404015,54404015,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp140Asp/c.420C>T|262|GZMA|protein_coding|CODING|NM_006144.3|4|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9899,0.9751,,,,,,,,,,,,,,,,,,,
missense_variant,CDC20B,MISSENSE,NM_001170402.1:p.Ser496Ala/c.1486T>G,Tct/Gct,MODERATE,,0.980831,1,rs3104230,1(T),"0.0,0.0,0.0(B,B,B)",-0.425(N),-0.9452(T),,chr5,54410120,54410120,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser454Ala/c.1360T>G|477|CDC20B|protein_coding|CODING|NM_001145734.2|11|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser496Ala/c.1486T>G|519|CDC20B|protein_coding|CODING|NM_001170402.1|12|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser492Ala/c.1474T>G|515|CDC20B|protein_coding|CODING|NM_152623.2|12|1)","HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.999,0.9899,0.9761,,,,,0.173952(N),0.000(P),"0.33,0.33,0.33(T,T,T)",0.0000(T),0.042,-0.280911,3.73,2.84,-0.215000,0.357000,0.689000,0.993000,0.995000,0.996000,8.8883
missense_variant,CDC20B,MISSENSE,NM_001170402.1:p.Arg121Cys/c.361C>T,Cgc/Tgc,MODERATE,,0.744409,0.7262,rs1021580,0.22(T),"0.001,0.0,0.0,0.0(B,B,B,B)",-0.69(N),-1.0067(T),,chr5,54439466,54439466,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg121Cys/c.361C>T|477|CDC20B|protein_coding|CODING|NM_001145734.2|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg121Cys/c.361C>T|519|CDC20B|protein_coding|CODING|NM_001170402.1|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg121Cys/c.361C>T|515|CDC20B|protein_coding|CODING|NM_152623.2|4|1)","GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8405,0.8732,0.827,,,,,0.307886(N),1.000(P),"3.1,3.1,3.1,3.1,2.28(T,T,T,T,T)",0.0000(T),0.033,-0.524320,4.52,-1.69,-1.532000,-0.713000,-0.470000,0.076000,0.001000,0.000000,0.9078
missense_variant,GPX8,MISSENSE,NM_001008397.2:p.Lys182Arg/c.545A>G,aAg/aGg,MODERATE,,0.833067,0.8274,rs381852,0.43(T),"0.0,0.0(B,B)",-0.695(N),-1.0325(T),,chr5,54459961,54459961,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys182Arg/c.545A>G|209|GPX8|protein_coding|CODING|NM_001008397.2|3|1),intron_variant(MODIFIER|||c.126+8455T>C|477|CDC20B|protein_coding|CODING|NM_001145734.2|2|1),intron_variant(MODIFIER|||c.126+8455T>C|519|CDC20B|protein_coding|CODING|NM_001170402.1|2|1),intron_variant(MODIFIER|||c.126+8455T>C|515|CDC20B|protein_coding|CODING|NM_152623.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.7505,0.8646,0.7903,,,,,0.000000(N),0.000(P),"3.87,3.87(T,T)",0.0000(T),0.084,2.632157,5.92,5.92,-0.128000,1.515000,1.946000,0.995000,1.000000,1.000000,15.4102
synonymous_variant,MCIDAS,SILENT,NM_001190787.1:p.Cys277Cys/c.831C>T,tgC/tgT,LOW,,0.488419,0.4812,rs6879219,,,,,,chr5,54516521,54516521,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys277Cys/c.831C>T|385|MCIDAS|protein_coding|CODING|NM_001190787.1|7|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.5869,0.5519,0.6203,,,,,,,,,,,,,,,,,,,
synonymous_variant,IL31RA,SILENT,NM_139017.5:p.Pro43Pro/c.129C>T,ccC/ccT,LOW,,0.628395,0.4544,rs1009639,,,,,,chr5,55155402,55155402,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro24Pro/c.72C>T|745|IL31RA|protein_coding|CODING|NM_001242636.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro43Pro/c.129C>T|681|IL31RA|protein_coding|CODING|NM_001242637.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro24Pro/c.72C>T|662|IL31RA|protein_coding|CODING|NM_001242638.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro43Pro/c.129C>T|582|IL31RA|protein_coding|CODING|NM_001297570.1|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro43Pro/c.129C>T|764|IL31RA|protein_coding|CODING|NM_139017.5|2|1),5_prime_UTR_variant(MODIFIER||12850|c.-442C>T|622|IL31RA|protein_coding|CODING|NM_001242639.1|2|1),5_prime_UTR_variant(MODIFIER||12850|c.-180C>T|440|IL31RA|protein_coding|CODING|NM_001297572.1|3|1)",NHEK:H3K36me3,,,,0.7658,0.4942,0.7276,,,,,,,,,,,,,,,,,,,
synonymous_variant,IL31RA,SILENT,NM_139017.5:p.Gly483Gly/c.1449T>G,ggT/ggG,LOW,COSM3761262(1),0.0790735,0.005,rs9632389,,,,,,chr5,55204187,55204187,T,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly464Gly/c.1392T>G|745|IL31RA|protein_coding|CODING|NM_001242636.1|11|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly483Gly/c.1449T>G|681|IL31RA|protein_coding|CODING|NM_001242637.1|11|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly464Gly/c.1392T>G|662|IL31RA|protein_coding|CODING|NM_001242638.1|13|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly341Gly/c.1023T>G|622|IL31RA|protein_coding|CODING|NM_001242639.1|12|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly483Gly/c.1449T>G|764|IL31RA|protein_coding|CODING|NM_139017.5|11|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly483Gly/c.1449T>G|582|IL31RA|protein_coding|CODING|NM_001297570.1|11|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly341Gly/c.1023T>G|440|IL31RA|protein_coding|CODING|NM_001297572.1|11|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.1145,0.098,0.1551,,,,,,,,,,,,,,,,,,,
missense_variant,IL6ST,MISSENSE,NM_002184.3:p.Leu397Val/c.1189C>G,Cta/Gta,MODERATE,,0.159744,0.0347,rs2228043,0.6(T),"0.0,0.0(B,B)",-1.7(N),-0.9603(T),,chr5,55251931,55251931,G,C,het,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu397Val/c.1189C>G|857|IL6ST|protein_coding|CODING|NM_001190981.1|10|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu397Val/c.1189C>G|918|IL6ST|protein_coding|CODING|NM_002184.3|10|1),3_prime_UTR_variant(MODIFIER||116|c.*116C>G|329|IL6ST|protein_coding|CODING|NM_175767.2|9|1),non_coding_exon_variant(MODIFIER|||n.1548C>G||IL6ST||CODING|NR_120480.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.1037,0.1113,,,,,0.617705(N),1.000(P),"0.99,0.99,0.99(T,T,T)",0.0000(T),0.051,-0.280498,5.86,-0.885,-1.109000,-0.300000,-0.097000,0.550000,0.029000,0.000000,8.5823
missense_variant,IL6ST,MISSENSE,NM_002184.3:p.Gly148Arg/c.442G>C,Ggt/Cgt,MODERATE,,0.196286,0.0347,rs2228044,0.21(T),"0.002,0.006,0.001(B,B,B)",-1.385(N),-0.9564(T),,chr5,55264153,55264153,C,G,het,"missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly148Arg/c.442G>C|857|IL6ST|protein_coding|CODING|NM_001190981.1|5|1),missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly148Arg/c.442G>C|918|IL6ST|protein_coding|CODING|NM_002184.3|5|1),missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly148Arg/c.442G>C|329|IL6ST|protein_coding|CODING|NM_175767.2|5|1),non_coding_exon_variant(MODIFIER|||n.755G>C||IL6ST||CODING|NR_120480.1|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0818,0.1196,0.1123,,,,,0.000077(N),0.000(P),"0.49,0.49,0.49,0.49,0.49,0.49(T,T,T,T,T,T)",0.0000(T),0.123,2.250436,5.76,5.76,-0.127000,1.590000,4.663000,0.265000,0.997000,1.000000,17.3973
synonymous_variant,MAP3K1,SILENT,NM_005921.1:p.Ala117Ala/c.351G>C,gcG/gcC,LOW,COSM4159917(1),0.685703,0.5704,rs28710284,,,,,,chr5,56111751,56111751,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala117Ala/c.351G>C|1512|MAP3K1|protein_coding|CODING|NM_005921.1|1|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7822,0.6484,0.8062,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP3K1,SILENT,NM_005921.1:p.Thr428Thr/c.1284G>A,acG/acA,LOW,,0.804313,0.7183,rs832575,,,,,,chr5,56161787,56161787,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr428Thr/c.1284G>A|1512|MAP3K1|protein_coding|CODING|NM_005921.1|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9376,0.7219,0.8678,,,,,,,,,,,,,,,,,,,
missense_variant,MAP3K1,MISSENSE,NM_005921.1:p.Asp806Asn/c.2416G>A,Gat/Aat,MODERATE,COSM4003564(2),0.476438,0.2431,rs702689,0.36(T),0.915(D),1.265(L),-0.9752(T),,chr5,56177443,56177443,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp806Asn/c.2416G>A|1512|MAP3K1|protein_coding|CODING|NM_005921.1|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4836,0.4914,0.7117,,,,,0.000000(D),0.000(P),0.82(T),0.0000(T),0.088,2.295264,5.56,5.56,0.655000,2.778000,8.102000,0.996000,1.000000,1.000000,19.8805
missense_variant,MAP3K1,MISSENSE,NM_005921.1:p.Val906Ile/c.2716G>A,Gtc/Atc,MODERATE,,0.708267,0.5704,rs832582,0.78(T),0.0(B),1.5(L),-1.0088(T),,chr5,56177743,56177743,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val906Ile/c.2716G>A|1512|MAP3K1|protein_coding|CODING|NM_005921.1|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7832,0.6527,0.8062,,,,,0.279052(N),1.000(P),1.56(T),0.0000(T),0.012,-2.035567,5.41,3.58,-0.977000,0.764000,0.964000,0.036000,0.042000,0.972000,12.2359
synonymous_variant,MAP3K1,SILENT,NM_005921.1:p.Arg1064Arg/c.3190A>C,Aga/Cga,LOW,COSM4159918(1),0.708267,0.5704,rs832583,,,,,,chr5,56178217,56178217,A,C,het,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg1064Arg/c.3190A>C|1512|MAP3K1|protein_coding|CODING|NM_005921.1|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7843,0.6527,0.8052,,,,,,,,,,,,,,,,,,,
missense_variant,SETD9,MISSENSE,NM_153706.3:p.Ser76Thr/c.226T>A,Tct/Act,MODERATE,COSM4003566(1),0.489217,0.2639,rs2257505,1(T),0.0(B),-1.39(N),-0.9756(T),,chr5,56207123,56207123,T,A,het,"missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser76Thr/c.226T>A|271|SETD9|protein_coding|CODING|NM_001171990.1|2|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser76Thr/c.226T>A|299|SETD9|protein_coding|CODING|NM_153706.3|2|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5276,0.513,0.7555,,,,,0.325321(N),1.000(P),"1.57,1.57(T,T)",0.0000(T),0.027,-0.443723,5.22,1.49,-0.257000,0.018000,-0.076000,0.982000,0.635000,0.005000,3.6151
synonymous_variant,MIER3,SILENT,NM_001297598.1:p.Ser58Ser/c.174A>G,tcA/tcG,LOW,COSM4159921(1),0.409944,0.5327,rs2034244,,,,,,chr5,56242774,56242774,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser53Ser/c.159A>G|550|MIER3|protein_coding|CODING|NM_001297599.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser53Ser/c.159A>G|549|MIER3|protein_coding|CODING|NM_152622.4|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser58Ser/c.174A>G|555|MIER3|protein_coding|CODING|NM_001297598.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3589,0.4135,0.2674,,,,,,,,,,,,,,,,,,,
synonymous_variant,GPBP1,SILENT,NM_001127236.2:p.Gly65Gly/c.195G>A,ggG/ggA,LOW,,0.853834,0.998,rs1130203,,,,,,chr5,56526783,56526783,G,A,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly65Gly/c.195G>A|465|GPBP1|protein_coding|CODING|NM_001127235.2|4|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly65Gly/c.195G>A|480|GPBP1|protein_coding|CODING|NM_001127236.2|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly58Gly/c.174G>A|473|GPBP1|protein_coding|CODING|NM_022913.3|4|1),5_prime_UTR_variant(MODIFIER||15379|c.-340G>A|302|GPBP1|protein_coding|CODING|NM_001203246.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7679,0.8314,0.6541,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLK2,SILENT,NM_006622.3:p.Ala28Ala/c.84G>A,gcG/gcA,LOW,COSM3761269(2),0.390974,0.5089,rs3211270,,,,,,chr5,57755703,57755703,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala28Ala/c.84G>A|685|PLK2|protein_coding|CODING|NM_006622.3|1|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala28Ala/c.84G>A|671|PLK2|protein_coding|CODING|NM_001252226.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,NHEK:PolII,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12",,,,0.455,0.4467,0.3479,,,,,,,,,,,,,,,,,,,
synonymous_variant,ERCC8,SILENT,NM_000082.3:p.Tyr145Tyr/c.435T>C,taT/taC,LOW,COSM3761270(1),0.135783,0.002,rs4647100,,,,,,chr5,60200665,60200665,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr145Tyr/c.435T>C|396|ERCC8|protein_coding|CODING|NM_000082.3|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr87Tyr/c.261T>C|338|ERCC8|protein_coding|CODING|NM_001007233.2|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr145Tyr/c.435T>C|205|ERCC8|protein_coding|CODING|NM_001007234.2|5|1),intron_variant(MODIFIER|||c.23-1122T>C|243|ERCC8|protein_coding|CODING|NM_001290285.1|4|1)",,,,,0.2055,0.1686,0.2704,,,,,,,,,,,,,,,,,,,
synonymous_variant,NDUFAF2,SILENT,NM_174889.4:p.Lys20Lys/c.60G>A,aaG/aaA,LOW,COSM3761271(1),0.692891,0.9484,rs158921,,,,,,chr5,60241142,60241142,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys20Lys/c.60G>A|169|NDUFAF2|protein_coding|CODING|NM_174889.4|1|1),upstream_gene_variant(MODIFIER||237||396|ERCC8|protein_coding|CODING|NM_000082.3||1),upstream_gene_variant(MODIFIER||237||338|ERCC8|protein_coding|CODING|NM_001007233.2||1),upstream_gene_variant(MODIFIER||237||205|ERCC8|protein_coding|CODING|NM_001007234.2||1),upstream_gene_variant(MODIFIER||237||243|ERCC8|protein_coding|CODING|NM_001290285.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,CD4:H4K12ac,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20",,RCV000117705.2,,0.6687,0.6974,0.5696,,,,,,,,,,,,,,,,,,,
missense_variant,C5orf64,MISSENSE,NM_173667.2:p.Ala57Thr/c.169G>A,Gct/Act,MODERATE,COSM3761272(1),0.495607,0.6458,rs16893687,1(T),0.0(B),-0.345(N),-0.9448(T),,chr5,60982841,60982841,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala57Thr/c.169G>A|130|C5orf64|protein_coding|CODING|NM_173667.2|3|1),intron_variant(MODIFIER|||n.1092+831C>T||LOC101928651||NON_CODING|NR_109910.1|5|1)","HUVEC:H3K27me3,HUVEC:DNase1",,,,0.5716,0.4914,0.336,,,,,0.381575(N),1.000(P),"1.14,1.14(T,T)",0.0000(T),0.013,0.577093,4.92,0.845,-0.254000,-0.253000,0.102000,0.827000,0.713000,0.010000,3.2402
missense_variant,C5orf64,MISSENSE,NM_173667.2:p.Arg101Trp/c.301C>T,Cgg/Tgg,MODERATE,COSM1438081(2),0.21845,0.003,rs386592711,0(D),0.0(B),-0.345(N),-0.9713(T),,chr5,60999768,60999768,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg101Trp/c.301C>T|130|C5orf64|protein_coding|CODING|NM_173667.2|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1697,0.2061,0.329,,,,,0.994721(N),1.000(P),"1.03,1.03(T,T)",0.0000(T),0.06,0.147611,4.16,1.61,-0.290000,0.398000,0.239000,0.003000,0.001000,0.000000,5.6444
synonymous_variant,DIMT1,SILENT,NM_014473.2:p.Ser135Ser/c.405A>G,tcA/tcG,LOW,,0.583866,0.6806,rs247264,,,,,,chr5,61694379,61694379,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser135Ser/c.405A>G|313|DIMT1|protein_coding|CODING|NM_014473.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4703,0.5029,0.4771,,,,,,,,,,,,,,,,,,,
synonymous_variant,IPO11,SILENT,NM_001134779.1:p.Val301Val/c.903G>T,gtG/gtT,LOW,COSM149841(1),0.442492,0.3155,rs26635,,,,,,chr5,61772535,61772535,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val301Val/c.903G>T|1015|IPO11|protein_coding|CODING|NM_001134779.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val261Val/c.783G>T|975|IPO11|protein_coding|CODING|NM_016338.4|9|1)","K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.5297,0.4942,0.4881,,,,,,,,,,,,,,,,,,,
missense_variant,RNF180,MISSENSE,NM_001113561.1:p.Arg529His/c.1586G>A,cGc/cAc,MODERATE,,0.0860623,0.002,rs76090587,1(T),0.0(B),0(N),-1.0290(T),,chr5,63665448,63665448,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg529His/c.1586G>A|592|RNF180|protein_coding|CODING|NM_001113561.1|8|1),,,,,0.1472,0.1052,0.1074,,,,,0.024622(N),0.000(P),0.97(T),0.0008(T),0.044,-0.518749,5.45,-0.0956,-0.605000,0.341000,0.291000,0.746000,0.978000,0.608000,4.0138
missense_variant,RGS7BP,MISSENSE,NM_001029875.2:p.Ile255Val/c.763A>G,Atc/Gtc,MODERATE,COSM149845(1),0.782149,0.6131,rs889248,1(T),0.001(B),-0.55(N),-0.9724(T),,chr5,63905068,63905068,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile255Val/c.763A>G|257|RGS7BP|protein_coding|CODING|NM_001029875.2|6|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile122Val/c.364A>G|124|RGS7BP|protein_coding|CODING|NM_001271890.1|4|1),3_prime_UTR_variant(MODIFIER||77|c.*77A>G|94|RGS7BP|protein_coding|CODING|NM_001271891.1|4|1),non_coding_exon_variant(MODIFIER|||n.640A>G||RGS7BP||CODING|NR_073511.1|5|1)","HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.7751,0.853,0.839,,,,,0.000123(N),1.000(P),1.79(T),0.0000(T),0.066,-0.759398,5.58,4.6,-0.128000,1.364000,3.929000,0.961000,0.949000,1.000000,9.057
synonymous_variant,CWC27,SILENT,NM_005869.3:p.Leu370Leu/c.1108T>C,Ttg/Ctg,LOW,COSM3761277(2),0.339457,0.4653,rs2278351,,,,,,chr5,64267595,64267595,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu370Leu/c.1108T>C|391|CWC27|protein_coding|CODING|NM_001297644.1|12|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu370Leu/c.1108T>C|472|CWC27|protein_coding|CODING|NM_005869.3|12|1)","CD4:H3K36me3,GM12878:Rad21,HepG2:H3K36me3",,,,0.3252,0.1772,0.2435,,,,,,,,,,,,,,,,,,,
synonymous_variant,CWC27,SILENT,NM_005869.3:p.Thr403Thr/c.1209G>A,acG/acA,LOW,COSM3761278(1),0.351637,0.3026,rs1309581,,,,,,chr5,64273018,64273018,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr403Thr/c.1209G>A|472|CWC27|protein_coding|CODING|NM_005869.3|13|1),intron_variant(MODIFIER|||c.1152+5379G>A|391|CWC27|protein_coding|CODING|NM_001297644.1|12|1)","NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4489,0.3876,0.4125,,,,,,,,,,,,,,,,,,,
synonymous_variant,PPWD1,SILENT,NM_015342.3:p.Pro575Pro/c.1725A>G,ccA/ccG,LOW,COSM3761279(1),0.578474,0.4137,rs27141,,,,,,chr5,64881936,64881936,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro545Pro/c.1635A>G|616|PPWD1|protein_coding|CODING|NM_001278926.1|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro435Pro/c.1305A>G|506|PPWD1|protein_coding|CODING|NM_001278927.1|10|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro419Pro/c.1257A>G|490|PPWD1|protein_coding|CODING|NM_001278929.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro575Pro/c.1725A>G|646|PPWD1|protein_coding|CODING|NM_015342.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.682,0.5115,0.6203,,,,,,,,,,,,,,,,,,,
synonymous_variant,NLN,SILENT,NM_020726.4:p.Pro659Pro/c.1977A>G,ccA/ccG,LOW,,0.699481,0.5665,rs111198042,,,,-1.0451(T),,chr5,65108215,65108215,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro659Pro/c.1977A>G|704|NLN|protein_coding|CODING|NM_020726.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.68,0.6066,0.675,,,,,,0.000(P),,0.0000(T),.,0.702850,5.37,2.96,-1.195000,0.141000,1.334000,0.932000,1.000000,1.000000,6.3845
missense_variant,NLN,MISSENSE,NM_020726.4:p.Pro704Ser/c.2110C>T,Ccg/Tcg,MODERATE,COSM3947658(1),0.0800719,0,rs386605570,0(D),"0.0,0.0(B,B)",0.805(L),-0.9639(T),,chr5,65118738,65118738,C,T,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro704Ser/c.2110C>T|704|NLN|protein_coding|CODING|NM_020726.4|13|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0624,0.0504,0.0308,,,,,0.087970(N),1.000(P),"3.07,2.94,2.93(T,T,T)",0.0000(T),0.05,1.950087,6.02,-0.749,-0.254000,-0.372000,-0.039000,0.080000,0.050000,0.000000,6.4829
synonymous_variant,ERBB2IP,SILENT,NM_001253699.1:p.Leu189Leu/c.565C>T,Ctg/Ttg,LOW,,0.672125,0.5357,rs706679,,,,,,chr5,65317181,65317181,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu189Leu/c.565C>T|1302|ERBB2IP|protein_coding|CODING|NM_001006600.2|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu189Leu/c.565C>T|1412|ERBB2IP|protein_coding|CODING|NM_001253697.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu189Leu/c.565C>T|1346|ERBB2IP|protein_coding|CODING|NM_001253698.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu189Leu/c.565C>T|1419|ERBB2IP|protein_coding|CODING|NM_001253699.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu189Leu/c.565C>T|1367|ERBB2IP|protein_coding|CODING|NM_001253701.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu189Leu/c.565C>T|1371|ERBB2IP|protein_coding|CODING|NM_018695.3|8|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8569,0.67,0.8777,,,,,,,,,,,,,,,,,,,
synonymous_variant,ERBB2IP,SILENT,NM_001253699.1:p.Arg1076Arg/c.3228A>G,cgA/cgG,LOW,,0.209665,0.4623,rs36303,,,,,,chr5,65350374,65350374,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1076Arg/c.3228A>G|1302|ERBB2IP|protein_coding|CODING|NM_001006600.2|21|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1076Arg/c.3228A>G|1412|ERBB2IP|protein_coding|CODING|NM_001253697.1|21|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1076Arg/c.3228A>G|1346|ERBB2IP|protein_coding|CODING|NM_001253698.1|21|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1076Arg/c.3228A>G|1419|ERBB2IP|protein_coding|CODING|NM_001253699.1|21|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1072Arg/c.3216A>G|1367|ERBB2IP|protein_coding|CODING|NM_001253701.1|21|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1076Arg/c.3228A>G|1371|ERBB2IP|protein_coding|CODING|NM_018695.3|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1411,0.2968,0.1203,,,,,,,,,,,,,,,,,,,
missense_variant,MAST4,MISSENSE,NM_001164664.1:p.Arg1624Pro/c.4871G>C,cGg/cCg,MODERATE,COSM3761290(3),0.950879,0.9028,rs1705399,1(T),"0.0,0.0(B,B)",0(N),-0.9746(T),,chr5,66459878,66459878,G,C,het,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg1624Pro/c.4871G>C|2623|MAST4|protein_coding|CODING|NM_001164664.1|29|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg1418Pro/c.4253G>C|2417|MAST4|protein_coding|CODING|NM_001290226.1|27|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg1363Pro/c.4088G>C|2362|MAST4|protein_coding|CODING|NM_001290227.1|26|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg1430Pro/c.4289G>C|2429|MAST4|protein_coding|CODING|NM_001297651.1|26|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg1435Pro/c.4304G>C|2434|MAST4|protein_coding|CODING|NM_015183.2|28|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.953,0.9582,0.9483,,,,,0.743949(N),1.000(P),"-0.12,-0.12,-0.14,-0.14,-0.12(T,T,T,T,T)",0.0000(T),0.399,0.290978,3.97,-0.23,-1.086000,-0.171000,0.078000,0.004000,0.000000,0.000000,5.3748
missense_variant,CD180,MISSENSE,NM_005582.2:p.Ile223Val/c.667A>G,Atc/Gtc,MODERATE,,0.995008,0.9752,rs1697144,0.59(T),0.0(B),0.39(N),-1.0028(T),,chr5,66480004,66480004,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile223Val/c.667A>G|661|CD180|protein_coding|CODING|NM_005582.2|3|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.598563(N),1.000(P),1.38(T),0.0000(T),0.005,-2.067482,5.4,-0.748,-0.119000,-0.553000,-0.784000,0.018000,0.001000,0.000000,1.0264
synonymous_variant,SLC30A5,SILENT,NM_022902.4:p.His564His/c.1692C>T,caC/caT,LOW,,0.423722,0.5397,rs164578,,,,,,chr5,68417643,68417643,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His564His/c.1692C>T|765|SLC30A5|protein_coding|CODING|NM_022902.4|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4376,0.4207,0.4245,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC30A5,SILENT,NM_022902.4:p.Thr600Thr/c.1800A>T,acA/acT,LOW,,0.402356,0.5397,rs164572,,,,,,chr5,68419054,68419054,A,T,het,synonymous_variant(LOW|SILENT|acA/acT|p.Thr600Thr/c.1800A>T|765|SLC30A5|protein_coding|CODING|NM_022902.4|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4376,0.4107,0.4225,,,,,,,,,,,,,,,,,,,
synonymous_variant,CCDC125,SILENT,NM_176816.4:p.Thr129Thr/c.387T>C,acT/acC,LOW,,0.00319489,0,rs143832565,,,,,,chr5,68607011,68607011,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr128Thr/c.384T>C|348|CCDC125|protein_coding|CODING|NM_001297696.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr4Thr/c.12T>C|386|CCDC125|protein_coding|CODING|NM_001297697.1|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr129Thr/c.387T>C|511|CCDC125|protein_coding|CODING|NM_176816.4|4|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0041,0,0.0119,,,,,,,,,,,,,,,,,,,
missense_variant,CCDC125,MISSENSE,NM_176816.4:p.Val13Met/c.37G>A,Gtg/Atg,MODERATE,,0.260583,0.2837,rs10471774,0.11(T),"0.649,0.482(P,P)",1.39(L),-0.9138(T),,chr5,68616331,68616331,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val13Met/c.37G>A|348|CCDC125|protein_coding|CODING|NM_001297696.1|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val13Met/c.37G>A|511|CCDC125|protein_coding|CODING|NM_176816.4|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||386|CCDC125|protein_coding|CODING|NM_001297697.1|2|1),5_prime_UTR_variant(MODIFIER||9309|c.-217G>A|386|CCDC125|protein_coding|CODING|NM_001297697.1|2|1)","HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2802,0.2968,0.4543,,,,,0.631478(N),0.987(P),"0.91,0.91,0.86(T,T,T)",0.0000(T),0.045,2.992915,4.92,4.02,0.457000,1.170000,2.597000,0.201000,0.003000,0.051000,11.3743
synonymous_variant,NAIP,SILENT,NM_004536.2:p.Ala164Ala/c.492G>A,gcG/gcA,LOW,COSM4159963(1),0.872404,0.8958,rs28409706,,,,,,chr5,70308251,70308251,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala164Ala/c.492G>A|1403|NAIP|protein_coding|CODING|NM_004536.2|4|1),intron_variant(MODIFIER|||c.182+8235G>A|1241|NAIP|protein_coding|CODING|NM_022892.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.8476,0.8674,0.7326,,,,,,,,,,,,,,,,,,,
missense_variant,BDP1,MISSENSE,NM_018429.2:p.Asp38Glu/c.114T>G,gaT/gaG,MODERATE,,0.778155,0.8909,rs3748043,1(T),"0.0,0.0,0.0(B,B,B)",-1.01(N),-0.9886(T),,chr5,70751818,70751818,T,G,het,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp38Glu/c.114T>G|2624|BDP1|protein_coding|CODING|NM_018429.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.8558,0.8516,0.831,,,,,0.246601(N),0.000(P),2.19(T),0.0000(T),0.046,-0.273230,5.08,0.309,-0.121000,-0.383000,-0.466000,0.610000,0.514000,0.480000,0.4286
missense_variant,BDP1,MISSENSE,NM_018429.2:p.Arg757Cys/c.2269C>T,Cgt/Tgt,MODERATE,COSM3761301(1),0.323682,0.505,rs3761966,0.21(T),"0.0,0.0,0.0(B,B,B)",-1.06(N),-0.9694(T),,chr5,70800475,70800475,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg757Cys/c.2269C>T|2624|BDP1|protein_coding|CODING|NM_018429.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.4928,0.335,,,,,0.622116(N),1.000(P),2.98(T),0.0000(T),0.058,-0.878384,4.92,-0.211,-0.247000,-0.150000,-0.258000,0.005000,0.004000,0.000000,3.227
missense_variant,BDP1,MISSENSE,NM_018429.2:p.Ile1264Met/c.3792C>G,atC/atG,MODERATE,,0.790735,0.8899,rs386489465,0.25(T),"0.0,0.0,0.0(B,B,B)",-0.69(N),-1.0209(T),,chr5,70806711,70806711,C,G,het,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile1264Met/c.3792C>G|2624|BDP1|protein_coding|CODING|NM_018429.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8558,0.8487,0.829,,,,,0.301544(N),1.000(P),2.79(T),0.0000(T),0.023,-0.401256,3.53,0.726,-0.647000,-0.073000,-0.740000,0.198000,0.000000,0.000000,4.5372
missense_variant,BDP1,MISSENSE,NM_018429.2:p.Val1347Met/c.4039G>A,Gtg/Atg,MODERATE,,0.821086,0.8839,rs6886336,0.36(T),"0.001,0.001,0.001(B,B,B)",0.97(L),-1.0043(T),,chr5,70806958,70806958,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1347Met/c.4039G>A|2624|BDP1|protein_coding|CODING|NM_018429.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8538,0.8689,0.829,,,,,0.004020(N),1.000(P),2.96(T),0.0000(T),0.008,-0.462246,3.23,-6.46,-3.013000,-2.582000,-1.809000,0.000000,0.000000,0.000000,8.1307
missense_variant,BDP1,MISSENSE,NM_018429.2:p.Ile2013Leu/c.6037A>C,Att/Ctt,MODERATE,,0.822684,0.8899,rs6453014,1(T),"0.0,0.0(B,B)",-1.995(N),-1.0297(T),,chr5,70837295,70837295,A,C,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile2013Leu/c.6037A>C|2624|BDP1|protein_coding|CODING|NM_018429.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8558,0.8689,0.829,,,,,0.012963(N),1.000(P),"3.35,3.35(T,T)",0.0000(T),0.302,-2.044744,5.6,2.57,-0.366000,-0.039000,0.298000,0.067000,0.103000,0.975000,3.3569
synonymous_variant,BDP1,SILENT,NM_018429.2:p.Arg2530Arg/c.7590C>T,cgC/cgT,LOW,COSM3761307(2),0.323682,0.505,rs277941,,,,,,chr5,70858194,70858194,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg2530Arg/c.7590C>T|2624|BDP1|protein_coding|CODING|NM_018429.2|38|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.4928,0.335,,,,,,,,,,,,,,,,,,,
missense_variant,BDP1,MISSENSE,NM_018429.2:p.Asn2555Ser/c.7664A>G,aAt/aGt,MODERATE,COSM3761308(1),0.0125799,0,rs17276250,0.74(T),0.022(B),1.15(L),-0.9414(T),,chr5,70858268,70858268,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn2555Ser/c.7664A>G|2624|BDP1|protein_coding|CODING|NM_018429.2|38|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0173,0.0408,,,,,0.413691(N),1.000(N),3.73(T),0.0026(T),0.011,0.712882,5.87,-1.41,0.528000,-0.472000,-1.905000,0.560000,0.000000,0.000000,1.6931
synonymous_variant,MCCC2,SILENT,NM_022132.4:p.Ala456Ala/c.1368A>G,gcA/gcG,LOW,,0.851438,0.9802,rs10064079,,,,,,chr5,70945075,70945075,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala456Ala/c.1368A>G|563|MCCC2|protein_coding|CODING|NM_022132.4|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082093.1,,0.9417,0.8746,0.8499,,,,,,,,,,,,,,,,,,,
missense_variant,MAP1B,MISSENSE,NM_005909.3:p.Ile594Val/c.1780A>G,Ata/Gta,MODERATE,,0.903754,0.9623,rs1866374,0.32(T),0.0(B),-1.59(N),-1.0446(T),,chr5,71490962,71490962,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile594Val/c.1780A>G|2468|MAP1B|protein_coding|CODING|NM_005909.3|5|1),"H1ESC:H3K36me3,GM12878:Pax5,CD4:DNase1,GM12878:BATF,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:ETS1,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,GM12878:IRF4,NHEK:H3K27me3,NHEK:H3K36me3,GM12878:BCL11A,HeLa-S3:H3K27me3,HepG2:H3K36me3,GM12878:DNase1",,,,0.9284,0.7046,0.8439,,,,,0.668162(N),1.000(P),"3.95,3.95,3.95(T,T,T)",0.0000(T),0.021,-0.083860,5.81,-3.04,-0.766000,-0.901000,-0.101000,0.953000,0.000000,0.000000,7.3329
missense_variant,MRPS27,MISSENSE,NM_001286748.1:p.Gly298Asp/c.893G>A,gGt/gAt,MODERATE,COSM3761309(1),0.265974,0.0218,rs3209157,0.59(T),"0.001,0.0,0.001(B,B,B)",-1.43(N),-0.9423(T),,chr5,71519664,71519664,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly298Asp/c.893G>A|428|MRPS27|protein_coding|CODING|NM_001286748.1|11|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly228Asp/c.683G>A|358|MRPS27|protein_coding|CODING|NM_001286751.1|10|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly284Asp/c.851G>A|414|MRPS27|protein_coding|CODING|NM_015084.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3569,0.1974,0.4056,,,,,0.005656(N),0.000(P),"1.03,1.03,1.03,1.03(T,T,T,T)",0.0000(T),0.163,-1.444956,6.16,6.16,-0.269000,1.152000,1.751000,0.002000,0.774000,0.970000,7.8391
synonymous_variant,MRPS27,SILENT,NM_001286748.1:p.Leu222Leu/c.666T>A,ctT/ctA,LOW,COSM3761310(1),0.190695,0.0218,rs10942927,,,,,,chr5,71524163,71524163,A,T,het,"synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu222Leu/c.666T>A|428|MRPS27|protein_coding|CODING|NM_001286748.1|9|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu152Leu/c.456T>A|358|MRPS27|protein_coding|CODING|NM_001286751.1|8|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu208Leu/c.624T>A|414|MRPS27|protein_coding|CODING|NM_015084.2|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2843,0.17,0.3688,,,,,,,,,,,,,,,,,,,
synonymous_variant,TNPO1,SILENT,NM_002270.3:p.Asp499Asp/c.1497C>T,gaC/gaT,LOW,,0.804513,0.8562,rs17606,,,,,,chr5,72184098,72184098,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp499Asp/c.1497C>T|898|TNPO1|protein_coding|CODING|NM_002270.3|13|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp491Asp/c.1473C>T|890|TNPO1|protein_coding|CODING|NM_153188.2|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7393,0.8444,0.8688,,,,,,,,,,,,,,,,,,,
missense_variant,FCHO2,MISSENSE,NM_138782.2:p.Asn222Ser/c.665A>G,aAt/aGt,MODERATE,,,,,,,0.69(N),-1.0887(T),,chr5,72311517,72311517,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn222Ser/c.665A>G|810|FCHO2|protein_coding|CODING|NM_138782.2|7|1),intron_variant(MODIFIER|||c.601-1522A>G|777|FCHO2|protein_coding|CODING|NM_001146032.1|6|1)","IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(D),,0.0731(T),.,2.446932,5.62,4.46,0.528000,0.971000,3.515000,0.999000,1.000000,1.000000,11.2565
synonymous_variant,FCHO2,SILENT,NM_138782.2:p.Thr329Thr/c.987A>G,acA/acG,LOW,,0.302117,0.4782,rs7712838,,,,,,chr5,72347223,72347223,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr296Thr/c.888A>G|777|FCHO2|protein_coding|CODING|NM_001146032.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr329Thr/c.987A>G|810|FCHO2|protein_coding|CODING|NM_138782.2|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2035,0.1859,0.3181,,,,,,,,,,,,,,,,,,,
synonymous_variant,FCHO2,SILENT,NM_138782.2:p.Thr408Thr/c.1224A>G,acA/acG,LOW,,0.138379,0.3879,rs57213367,,,,,,chr5,72351905,72351905,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr375Thr/c.1125A>G|777|FCHO2|protein_coding|CODING|NM_001146032.1|15|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr408Thr/c.1224A>G|810|FCHO2|protein_coding|CODING|NM_138782.2|16|1)","K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0481,0.0951,0.169,,,,,,,,,,,,,,,,,,,
missense_variant,TMEM171,MISSENSE,NM_173490.7:p.Phe23Leu/c.67T>C,Ttc/Ctc,MODERATE,COSM4003581(1),0.16893,0.0962,rs638333,0.02(D),"0.027,0.027(B,B)",2.32(M),-1.0290(T),,chr5,72419267,72419267,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe23Leu/c.67T>C|323|TMEM171|protein_coding|CODING|NM_001161342.2|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe23Leu/c.67T>C|324|TMEM171|protein_coding|CODING|NM_173490.7|2|1)","GM06990:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HSMM:DNase1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1084,0.3458,0.2883,,,,,0.000028(N),0.004(P),"1.38,1.38(T,T)",0.0000(T),0.171,4.257271,5.09,5.09,0.379000,1.922000,5.398000,0.720000,0.990000,1.000000,14.8705
synonymous_variant,TMEM171,SILENT,NM_173490.7:p.Gly70Gly/c.210A>G,ggA/ggG,LOW,,0.9998,1,rs7731777,,,,,,chr5,72419410,72419410,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly70Gly/c.210A>G|323|TMEM171|protein_coding|CODING|NM_001161342.2|2|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly70Gly/c.210A>G|324|TMEM171|protein_coding|CODING|NM_173490.7|2|1)","GM06990:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,0.999,,,,,,,,,,,,,,,,,,,
missense_variant,TMEM171,MISSENSE,NM_173490.7:p.Arg86Gly/c.256C>G,Cgt/Ggt,MODERATE,,0.438299,0.5933,rs637450,0.08(T),"0.151,0.151(B,B)",0.975(L),-0.9322(T),,chr5,72419456,72419456,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg86Gly/c.256C>G|323|TMEM171|protein_coding|CODING|NM_001161342.2|2|1),missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg86Gly/c.256C>G|324|TMEM171|protein_coding|CODING|NM_173490.7|2|1)","GM06990:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.407,0.3285,0.2654,,,,,0.714050(N),1.000(P),"1.83,1.83(T,T)",0.0000(T),0.207,0.897133,5.2,-0.798,0.462000,-0.053000,0.482000,0.430000,0.000000,0.000000,8.079
missense_variant,TMEM171,MISSENSE,NM_173490.7:p.Asn139Lys/c.417C>A,aaC/aaA,MODERATE,COSM4159974(1),0.448283,0.5942,rs636926,0.2(T),"0.023,0.023(B,B)",0(N),-0.9555(T),,chr5,72419617,72419617,C,A,het,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn139Lys/c.417C>A|323|TMEM171|protein_coding|CODING|NM_001161342.2|2|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn139Lys/c.417C>A|324|TMEM171|protein_coding|CODING|NM_173490.7|2|1)","GM06990:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.407,0.3285,0.2654,,,,,0.106533(N),1.000(P),"1.98,1.98(T,T)",0.0000(T),0.012,0.525579,5.35,1.2,-0.379000,0.626000,0.304000,0.013000,0.796000,0.064000,2.9391
synonymous_variant,UTP15,SILENT,NM_032175.3:p.Gly404Gly/c.1212A>C,ggA/ggC,LOW,,0.129193,0.0585,rs343122,,,,-1.0754(T),,chr5,72874907,72874907,A,C,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly385Gly/c.1155A>C|499|UTP15|protein_coding|CODING|NM_001284430.1|11|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly214Gly/c.642A>C|328|UTP15|protein_coding|CODING|NM_001284431.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly404Gly/c.1212A>C|518|UTP15|protein_coding|CODING|NM_032175.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.136,0.1527,0.2187,,,,,,0.000(P),,0.0001(T),.,1.369190,5.68,3.27,0.533000,0.503000,2.317000,0.989000,1.000000,1.000000,8.4101
missense_variant,ARHGEF28,MISSENSE,NM_001080479.2:p.Trp225Arg/c.673T>C,Tgg/Cgg,MODERATE,COSM450036(3),0.370407,0.3194,rs7714670,0.9(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.5(N),-0.9471(T),,chr5,73072354,73072354,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp225Arg/c.673T>C|1731|ARHGEF28|protein_coding|CODING|NM_001080479.2|6|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp225Arg/c.673T>C|1705|ARHGEF28|protein_coding|CODING|NM_001177693.1|6|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",Venous_thromboembolism_gene_x_gene_interaction,,,0.3804,0.366,0.4573,,,,,,1.000(P),"3.38,3.38,3.38,3.13,3.38,3.38(T,T,T,T,T,T)",0.0000(T),0.067,-2.170811,5.15,0.823,-1.140000,0.151000,0.228000,0.253000,0.000000,0.000000,4.5007
missense_variant,ARHGEF28,MISSENSE,NM_001080479.2:p.Pro284Gln/c.851C>A,cCa/cAa,MODERATE,COSM4003583(1),0.577875,0.5129,rs6453022,0.64(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.755(N),-1.0391(T),,chr5,73076511,73076511,C,A,het,"missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro284Gln/c.851C>A|1731|ARHGEF28|protein_coding|CODING|NM_001080479.2|7|1),missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro284Gln/c.851C>A|1705|ARHGEF28|protein_coding|CODING|NM_001177693.1|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5583,0.5303,0.499,,,,,,1.000(P),"3.32,3.31,3.32,3.06,3.31,3.32(T,T,T,T,T,T)",0.0000(T),0.091,-2.360585,5.47,-0.0217,-1.048000,-0.450000,1.843000,0.108000,0.046000,0.999000,0.9739
synonymous_variant,ARHGEF28,SILENT,NM_001080479.2:p.Ala315Ala/c.945T>C,gcT/gcC,LOW,COSM3761314(1),0.613419,0.5327,rs7716253,,,,,,chr5,73090261,73090261,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala315Ala/c.945T>C|1731|ARHGEF28|protein_coding|CODING|NM_001080479.2|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala315Ala/c.945T>C|1705|ARHGEF28|protein_coding|CODING|NM_001177693.1|8|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5798,0.5346,0.508,,,,,,,,,,,,,,,,,,,
missense_variant,ARHGEF28,MISSENSE,NM_001080479.2:p.Pro1664Leu/c.4991C>T,cCg/cTg,MODERATE,,0.322484,0.1319,rs423333,0.31(T),"0.0,0.0(B,B)",0(N),-0.9081(T),,chr5,73218954,73218954,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1664Leu/c.4991C>T|1731|ARHGEF28|protein_coding|CODING|NM_001080479.2|36|1),intron_variant(MODIFIER|||c.4948+11554C>T|1705|ARHGEF28|protein_coding|CODING|NM_001177693.1|35|1),intron_variant(MODIFIER|||c.4009+11554C>T|1392|ARHGEF28|protein_coding|CODING|NM_001244364.1|27|1)","GM12878:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3374,0.3559,0.168,,,,,,1.000(P),"3.31,3.02,3.31,1.62(T,T,T,T)",0.0000(T),0.021,-1.130645,5.12,-6.63,-2.202000,-0.932000,-1.004000,0.002000,0.000000,0.001000,4.8327
synonymous_variant,ENC1,SILENT,NM_001256574.1:p.Lys520Lys/c.1560G>A,aaG/aaA,LOW,,0.617812,0.6181,rs300239,,,,,,chr5,73930751,73930751,C,T,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys447Lys/c.1341G>A|516|ENC1|protein_coding|CODING|NM_001256576.1|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys520Lys/c.1560G>A|589|ENC1|protein_coding|CODING|NM_001256574.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys520Lys/c.1560G>A|589|ENC1|protein_coding|CODING|NM_001256575.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys520Lys/c.1560G>A|589|ENC1|protein_coding|CODING|NM_003633.3|2|1),intron_variant(MODIFIER|||n.1119-4934G>A||ENC1||CODING|NR_046318.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.5675,0.7464,0.6948,,,,,,,,,,,,,,,,,,,
synonymous_variant,ENC1,SILENT,NM_001256574.1:p.Ser355Ser/c.1065A>G,tcA/tcG,LOW,,0.754792,0.623,rs442425,,,,,,chr5,73931246,73931246,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser282Ser/c.846A>G|516|ENC1|protein_coding|CODING|NM_001256576.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser355Ser/c.1065A>G|589|ENC1|protein_coding|CODING|NM_001256574.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser355Ser/c.1065A>G|589|ENC1|protein_coding|CODING|NM_001256575.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser355Ser/c.1065A>G|589|ENC1|protein_coding|CODING|NM_003633.3|2|1),intron_variant(MODIFIER|||n.1118+4886A>G||ENC1||CODING|NR_046318.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K79me2,GM06990:H3K36me3,NHEK:DNase1,HSMM:H3K79me2",,,,0.6462,0.8184,0.8131,,,,,,,,,,,,,,,,,,,
missense_variant,HEXB,MISSENSE,NM_000521.3:p.Leu62Ser/c.185T>C,tTg/tCg,MODERATE,COSM450042(2),0.98143,1,rs820878,1(T),,,-0.9095(T),,chr5,73981270,73981270,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu62Ser/c.185T>C|556|HEXB|protein_coding|CODING|NM_000521.3|1|1),intron_variant(MODIFIER|||c.-376-3883T>C|331|HEXB|protein_coding|CODING|NM_001292004.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HeLa-S3:Ini1,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:H2AZ",,RCV000004086.1,,0.9622,0.9827,0.9592,,,,,0.012864(N),1.000(P),-0.42(T),0.0000(T),0.191,-0.176214,4.86,3.99,-0.215000,0.476000,0.963000,0.032000,0.000000,0.002000,8.7571
missense_variant,HEXB,MISSENSE,NM_000521.3:p.Lys121Arg/c.362A>G,aAa/aGa,MODERATE,,0.222644,0.1667,rs11556045,0.63(T),0.001(B),0.43(N),-0.9028(T),,chr5,73985215,73985215,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys121Arg/c.362A>G|556|HEXB|protein_coding|CODING|NM_000521.3|2|1),5_prime_UTR_variant(MODIFIER||15835|c.-314A>G|331|HEXB|protein_coding|CODING|NM_001292004.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000004078.1|RCV000079063.1,,0.2464,0.2421,0.1809,,,,,0.064526(N),1.000(P),-2.41(D),0.0000(T),0.052,-0.078595,5.83,-7.58,-3.424000,-3.763000,-0.913000,0.000000,0.000000,0.000000,11.1512
missense_variant,GCNT4,MISSENSE,NM_016591.2:p.Pro439Ser/c.1315C>T,Ccc/Tcc,MODERATE,COSM149851(4),0.436701,0.2897,rs3811987,0.8(T),0.0(B),-0.805(N),-1.0338(T),,chr5,74324548,74324548,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro439Ser/c.1315C>T|453|GCNT4|protein_coding|CODING|NM_016591.2|1|1),"HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3497,0.3732,0.3002,,,,,0.000703(N),0.994(P),3.27(T),0.0000(T),0.113,-0.611098,5.96,4.79,-0.269000,0.497000,3.881000,0.851000,0.944000,1.000000,10.6701
missense_variant,GCNT4,MISSENSE,NM_016591.2:p.Val321Ile/c.961G>A,Gtt/Att,MODERATE,COSM149852(3),0.366813,0.251,rs4704166,0.7(T),0.021(B),0.74(N),-0.9790(T),,chr5,74324902,74324902,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val321Ile/c.961G>A|453|GCNT4|protein_coding|CODING|NM_016591.2|1|1),"HUVEC:H3K27me3,NHEK:H3K36me3",,,,0.3487,0.3501,0.2982,,,,,0.194024(N),1.000(P),2.76(T),0.0000(T),0.04,-2.484083,6.06,0.501,-1.159000,-0.207000,2.610000,0.004000,0.000000,0.384000,14.9541
missense_variant,ANKRD31,MISSENSE,NM_001164443.1:p.Asp1609Glu/c.4827C>G,gaC/gaG,MODERATE,,0.21266,0.1925,rs961098,0.31(T),,0.69(N),-1.0564(T),,chr5,74400386,74400386,G,C,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1609Glu/c.4827C>G|1873|ANKRD31|protein_coding|CODING|NM_001164443.1|21|1),HUVEC:H3K27me3,,,,0.4151,0.1988,0.1819,,,,,,1.000(P),0.3(T),0.0001(T),0.017,1.282558,5.84,-0.643,0.655000,0.240000,0.311000,0.400000,0.006000,0.001000,0.9571
synonymous_variant,ANKRD31,SILENT,NM_001164443.1:p.Phe942Phe/c.2826C>T,ttC/ttT,LOW,COSM3828413(2),0.585064,0.4752,rs1422699,,,,,,chr5,74442410,74442410,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe942Phe/c.2826C>T|1873|ANKRD31|protein_coding|CODING|NM_001164443.1|14|1),,,,,0.5961,0.4193,0.3867,,,,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD31,SILENT,NM_001164443.1:p.Thr772Thr/c.2316T>C,acT/acC,LOW,,0.585264,0.4752,rs6888707,,,,,,chr5,74442920,74442920,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr772Thr/c.2316T>C|1873|ANKRD31|protein_coding|CODING|NM_001164443.1|14|1),,,,,0.5961,0.4193,0.3867,,,,,,,,,,,,,,,,,,,
missense_variant,ANKRD31,MISSENSE,NM_001164443.1:p.Asp702Asn/c.2104G>A,Gac/Aac,MODERATE,COSM483036(4),0.585064,0.4752,rs1422698,0.96(T),0.001(B),-0.695(N),-0.9633(T),,chr5,74443132,74443132,C,T,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp702Asn/c.2104G>A|1873|ANKRD31|protein_coding|CODING|NM_001164443.1|14|1),,,,,0.5951,0.4193,0.3867,,,,,0.227359(N),1.000(P),"0.08,0.59(T,T)",0.0000(T),0.114,-1.594421,4.92,2.63,-0.254000,0.010000,0.044000,0.368000,0.012000,0.003000,6.5769
synonymous_variant,ANKRD31,SILENT,NM_001164443.1:p.Leu107Leu/c.321G>A,ctG/ctA,LOW,COSM1137380(4),0.258786,0.1925,rs2219745,,,,,,chr5,74506658,74506658,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu107Leu/c.321G>A|1873|ANKRD31|protein_coding|CODING|NM_001164443.1|4|1),HUVEC:H3K27me3,,,,0.4243,0.2291,0.2455,,,,,,,,,,,,,,,,,,,
synonymous_variant,COL4A3BP,SILENT,NM_001130105.1:p.Glu585Glu/c.1755A>G,gaA/gaG,LOW,COSM149854(1),0.289736,0.3313,rs698912,,,,,,chr5,74681773,74681773,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu585Glu/c.1755A>G|752|COL4A3BP|protein_coding|CODING|NM_001130105.1|14|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu457Glu/c.1371A>G|624|COL4A3BP|protein_coding|CODING|NM_005713.2|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu431Glu/c.1293A>G|598|COL4A3BP|protein_coding|CODING|NM_031361.2|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4356,0.1715,0.2197,,,,,,,,,,,,,,,,,,,
synonymous_variant,POLK,SILENT,NM_016218.2:p.Ala309Ala/c.927C>T,gcC/gcT,LOW,,0.270966,0.3333,rs3213801,,,,,,chr5,74877266,74877266,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala309Ala/c.927C>T|870|POLK|protein_coding|CODING|NM_016218.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3998,0.1801,0.2197,,,,,,,,,,,,,,,,,,,
missense_variant,ANKDD1B,MISSENSE,NM_001276713.1:p.Ser169Asn/c.506G>A,aGc/aAc,MODERATE,,0.324681,0.3373,rs9332464,,,1(L),-0.9260(T),,chr5,74921686,74921686,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser169Asn/c.506G>A|528|ANKDD1B|protein_coding|CODING|NM_001276713.1|5|1),"NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4356,0.1945,0.2207,,,,,,,,0.0000(T),.,-0.727250,4.74,3.57,-0.269000,0.845000,1.598000,0.669000,0.984000,0.853000,8.4653
missense_variant,POC5,MISSENSE,NM_001099271.1:p.His36Arg/c.107A>G,cAt/cGt,MODERATE,COSM4159986(1),0.615615,0.5347,rs2307111,1(T),"0.0,0.0(B,B)",-2.32(N),-0.9720(T),,chr5,75003678,75003678,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His36Arg/c.107A>G|575|POC5|protein_coding|CODING|NM_001099271.1|3|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His11Arg/c.32A>G|550|POC5|protein_coding|CODING|NM_152408.2|2|1)","K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",Obesity,,,0.6043,0.4798,0.3956,,,,,0.000000(N),0.000(P),"2.53,2.11,2.51(T,T,T)",0.0000(T),0.082,-1.056591,5.85,5.85,-0.119000,1.483000,2.176000,0.006000,0.937000,1.000000,12.2646
synonymous_variant,SV2C,SILENT,NM_014979.2:p.Arg120Arg/c.360G>A,cgG/cgA,LOW,COSM1438609(1),0.472644,0.3224,rs10070440,,,,,,chr5,75427935,75427935,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg120Arg/c.360G>A|676|SV2C|protein_coding|CODING|NM_001297716.1|2|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg120Arg/c.360G>A|727|SV2C|protein_coding|CODING|NM_014979.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6554,0.4467,0.7396,,,,,,,,,,,,,,,,,,,
synonymous_variant,IQGAP2,SILENT,NM_006633.3:p.Leu154Leu/c.462G>A,ttG/ttA,LOW,COSM4159989(1),0.696086,0.751,rs1131232,,,,,,chr5,75884734,75884734,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu104Leu/c.312G>A|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|5|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu154Leu/c.462G>A|1575|IQGAP2|protein_coding|CODING|NM_006633.3|6|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7873,0.6671,0.492,,,,,,,,,,,,,,,,,,,
synonymous_variant,IQGAP2,SILENT,NM_006633.3:p.Ala524Ala/c.1572C>T,gcC/gcT,LOW,COSM149858(1),0.542732,0.4712,rs2431351,,,,,,chr5,75923285,75923285,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala474Ala/c.1422C>T|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala77Ala/c.231C>T|1071|IQGAP2|protein_coding|CODING|NM_001285461.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala77Ala/c.231C>T|1071|IQGAP2|protein_coding|CODING|NM_001285462.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala524Ala/c.1572C>T|1575|IQGAP2|protein_coding|CODING|NM_006633.3|14|1)","HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6125,0.4856,0.5915,,,,,,,,,,,,,,,,,,,
missense_variant,IQGAP2,MISSENSE,NM_006633.3:p.Asp527Glu/c.1581T>G,gaT/gaG,MODERATE,,0.902356,0.8641,rs2431352,1(T),"0.001,0.001,0.001,0.001(B,B,B,B)",-0.6(N),-0.9640(T),,chr5,75923294,75923294,T,G,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp477Glu/c.1431T>G|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|13|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp80Glu/c.240T>G|1071|IQGAP2|protein_coding|CODING|NM_001285461.1|3|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp80Glu/c.240T>G|1071|IQGAP2|protein_coding|CODING|NM_001285462.1|3|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp527Glu/c.1581T>G|1575|IQGAP2|protein_coding|CODING|NM_006633.3|14|1)","HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9571,0.732,0.9602,,,,,0.061596(N),1.000(P),"1.67,1.67,1.67,1.67,1.67,1.67,1.67,1.67(T,T,T,T,T,T,T,T)",0.0000(T),0.107,-1.754152,4.91,-1.2,-1.825000,-0.233000,0.670000,0.001000,0.740000,1.000000,0.2395
missense_variant,IQGAP2,MISSENSE,NM_006633.3:p.Lys532Glu/c.1594A>G,Aag/Gag,MODERATE,,0.999401,1,rs2909888,0.69(T),"0.001,0.001,0.001,0.001(B,B,B,B)",1.1(L),-0.9947(T),,chr5,75923307,75923307,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys482Glu/c.1444A>G|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|13|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys85Glu/c.253A>G|1071|IQGAP2|protein_coding|CODING|NM_001285461.1|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys85Glu/c.253A>G|1071|IQGAP2|protein_coding|CODING|NM_001285462.1|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys532Glu/c.1594A>G|1575|IQGAP2|protein_coding|CODING|NM_006633.3|14|1)","HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.999,,,,,0.955006(N),1.000(P),"1.6,1.6,1.6,1.6,1.6,1.6,1.6,1.6(T,T,T,T,T,T,T,T)",0.0000(T),0.336,0.133919,4.91,-4.28,-1.134000,-0.975000,-0.303000,0.000000,0.000000,0.001000,4.4474
synonymous_variant,IQGAP2,SILENT,NM_006633.3:p.Asp597Asp/c.1791C>T,gaC/gaT,LOW,COSM149859(2),0.550519,0.4722,rs2910819,0.02(D),,,-0.9340(T),,chr5,75932869,75932869,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp547Asp/c.1641C>T|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp150Asp/c.450C>T|1071|IQGAP2|protein_coding|CODING|NM_001285461.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp150Asp/c.450C>T|1071|IQGAP2|protein_coding|CODING|NM_001285462.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp597Asp/c.1791C>T|1575|IQGAP2|protein_coding|CODING|NM_006633.3|16|1)","CD4:H3K36me3,HepG2:H3K36me3",,,,0.6227,0.4942,0.6083,,,,,,0.000(P),1.17(T),0.0000(T),.,4.113915,5.82,0.504,-1.006000,-0.127000,1.248000,0.671000,0.962000,1.000000,6.1782
missense_variant,IQGAP2,MISSENSE,NM_006633.3:p.Leu629Phe/c.1887G>C,ttG/ttC,MODERATE,COSM149860(1),0.553315,0.4722,rs2455230,0.56(T),"0.213,0.017,0.213,0.017(B,B,B,B)",2.075(M),-0.9093(T),,chr5,75932965,75932965,G,C,het,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu579Phe/c.1737G>C|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|15|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu182Phe/c.546G>C|1071|IQGAP2|protein_coding|CODING|NM_001285461.1|5|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu182Phe/c.546G>C|1071|IQGAP2|protein_coding|CODING|NM_001285462.1|5|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu629Phe/c.1887G>C|1575|IQGAP2|protein_coding|CODING|NM_006633.3|16|1)","CD4:H3K36me3,HepG2:H3K36me3",,,,0.6227,0.4928,0.6083,,,,,0.696452(N),1.000(P),"0.17,0.17,0.17,0.17,0.17,0.17,0.17(T,T,T,T,T,T,T)",0.0000(T),0.237,1.473117,5.72,0.233,-0.203000,0.018000,0.145000,0.066000,0.000000,0.000000,4.8888
missense_variant,IQGAP2,MISSENSE,NM_006633.3:p.Ile724Val/c.2170A>G,Att/Gtt,MODERATE,COSM3761326(1),0.40655,0.2163,rs2431363,1(T),"0.007,0.012,0.005,0.006(B,B,B,B)",0.315(N),-0.9161(T),,chr5,75948650,75948650,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile674Val/c.2020A>G|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|17|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile220Val/c.658A>G|1071|IQGAP2|protein_coding|CODING|NM_001285461.1|6|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile220Val/c.658A>G|1071|IQGAP2|protein_coding|CODING|NM_001285462.1|6|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile724Val/c.2170A>G|1575|IQGAP2|protein_coding|CODING|NM_006633.3|18|1)",HepG2:H3K36me3,,,,0.4632,0.4107,0.5626,,,,,0.000402(N),0.653(P),"1.69,1.69,1.69,1.69,1.69,1.69,1.69(T,T,T,T,T,T,T)",0.0000(T),0.122,-1.030512,5.31,1.14,0.533000,0.018000,0.075000,0.716000,0.311000,0.004000,8.5428
synonymous_variant,IQGAP2,SILENT,NM_006633.3:p.His848His/c.2544T>C,caT/caC,LOW,,0.963259,0.9236,rs253093,,,,,,chr5,75960865,75960865,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His798His/c.2394T>C|1525|IQGAP2|protein_coding|CODING|NM_001285460.1|21|1),synonymous_variant(LOW|SILENT|caT/caC|p.His344His/c.1032T>C|1071|IQGAP2|protein_coding|CODING|NM_001285461.1|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His344His/c.1032T>C|1071|IQGAP2|protein_coding|CODING|NM_001285462.1|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His848His/c.2544T>C|1575|IQGAP2|protein_coding|CODING|NM_006633.3|22|1)",HepG2:H3K36me3,,,,0.9867,0.9625,0.994,,,,,,,,,,,,,,,,,,,
missense_variant,F2RL1,MISSENSE,NM_005242.4:p.Ser30Asn/c.89G>A,aGt/aAt,MODERATE,COSM4159992(1),0.965455,0.8333,rs616235,1(T),,,-0.9216(T),,chr5,76128521,76128521,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser30Asn/c.89G>A|397|F2RL1|protein_coding|CODING|NM_005242.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9949,1,1,,,,,0.006827(N),1.000(P),-0.6(T),0.0000(T),0.023,-0.435653,5.75,-5.18,-0.972000,-1.078000,-1.604000,0.003000,0.000000,0.000000,13.2626
synonymous_variant,F2RL1,SILENT,NM_005242.4:p.Ile207Ile/c.621T>C,atT/atC,LOW,,0.881989,0.5317,rs631465,,,,,,chr5,76129053,76129053,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile207Ile/c.621T>C|397|F2RL1|protein_coding|CODING|NM_005242.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.955,0.951,0.9612,,,,,,,,,,,,,,,,,,,
missense_variant,S100Z,MISSENSE,NM_130772.3:p.Glu23Ala/c.68A>C,gAa/gCa,MODERATE,,0.552716,0.5615,rs1320308,0.08(T),0.986(D),,-1.0031(T),,chr5,76171252,76171252,A,C,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu23Ala/c.68A>C|99|S100Z|protein_coding|CODING|NM_130772.3|3|1),"HUVEC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,NH-A:DNase1,GM12878:SP1,HepG2:H3K27me3,GM12878:PU1,GM12878:H3K4me2",,,,0.2894,0.6628,0.6958,,,,,0.000000(D),0.000(P),"2.7,2.7(T,T)",0.0000(T),0.12,3.311833,5.58,5.58,0.533000,2.118000,5.881000,0.054000,1.000000,1.000000,15.4177
missense_variant,PDE8B,MISSENSE,NM_003719.3:p.Arg121His/c.362G>A,cGc/cAc,MODERATE,,0.00339457,0,rs115599001,0.27(T),"0.264,0.006,0.221,0.007(B,B,B,B)",0.55(N),-0.9257(T),,chr5,76607841,76607841,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg121His/c.362G>A|788|PDE8B|protein_coding|CODING|NM_001029851.2|2|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg121His/c.362G>A|830|PDE8B|protein_coding|CODING|NM_001029852.2|2|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg121His/c.362G>A|838|PDE8B|protein_coding|CODING|NM_001029854.2|2|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg121His/c.362G>A|885|PDE8B|protein_coding|CODING|NM_003719.3|2|1),intron_variant(MODIFIER|||c.340-13523G>A|865|PDE8B|protein_coding|CODING|NM_001029853.2|1|1)",,,,,0,0.0029,0.0139,,,,,0.019144(N),1.000(D),"-0.44,-0.44,-0.54,-0.41(T,T,T,T)",0.1236(T),0.43,3.447983,5.31,4.41,0.650000,1.557000,2.412000,0.981000,0.985000,1.000000,9.2812
synonymous_variant,PDE8B,SILENT,NM_003719.3:p.Pro499Pro/c.1497T>C,ccT/ccC,LOW,,,,rs186753,,,,,,chr5,76704849,76704849,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro402Pro/c.1206T>C|788|PDE8B|protein_coding|CODING|NM_001029851.2|11|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro479Pro/c.1437T>C|865|PDE8B|protein_coding|CODING|NM_001029853.2|13|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro452Pro/c.1356T>C|838|PDE8B|protein_coding|CODING|NM_001029854.2|13|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro499Pro/c.1497T>C|885|PDE8B|protein_coding|CODING|NM_003719.3|14|1),intron_variant(MODIFIER|||c.1365+1567T>C|830|PDE8B|protein_coding|CODING|NM_001029852.2|13|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDE8B,SILENT,NM_003719.3:p.Glu588Glu/c.1764A>G,gaA/gaG,LOW,COSM4159993(1),0.765176,0.8175,rs335614,,,,,,chr5,76708987,76708987,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu491Glu/c.1473A>G|788|PDE8B|protein_coding|CODING|NM_001029851.2|14|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu533Glu/c.1599A>G|830|PDE8B|protein_coding|CODING|NM_001029852.2|16|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu568Glu/c.1704A>G|865|PDE8B|protein_coding|CODING|NM_001029853.2|16|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu541Glu/c.1623A>G|838|PDE8B|protein_coding|CODING|NM_001029854.2|16|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu588Glu/c.1764A>G|885|PDE8B|protein_coding|CODING|NM_003719.3|17|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7638,0.7305,0.672,,,,,,,,,,,,,,,,,,,
missense_variant,WDR41,MISSENSE,NM_018268.2:p.Val329Ile/c.985G>A,Gtt/Att,MODERATE,,0.528355,0.4603,rs33204,0.22(T),"0.001,0.001,0.001(B,B,B)",-0.21(N),-0.9109(T),,chr5,76734084,76734084,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val329Ile/c.985G>A|459|WDR41|protein_coding|CODING|NM_018268.2|10|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5051,0.611,0.4205,,,,,0.003446(N),1.000(P),"0.14,0.14,0.14,0.14,0.14(T,T,T,T,T)",0.0000(T),0.204,-1.048825,5.75,-2.41,-1.007000,-0.623000,0.529000,0.239000,0.031000,0.999000,12.8081
synonymous_variant,OTP,SILENT,NM_032109.2:p.Lys163Lys/c.489A>G,aaA/aaG,LOW,COSM3761328(4),0.993211,1,rs13357072,,,,,,chr5,76926578,76926578,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys163Lys/c.489A>G|325|OTP|protein_coding|CODING|NM_032109.2|3|1),"HepG2:H3K4me2,HSMM:H2AZ,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,H1ESC:Yy1,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,GM12878:H2AZ",,,,0.9898,0.9914,0.9821,,,,,,,,,,,,,,,,,,,
synonymous_variant,AP3B1,SILENT,NM_003664.4:p.Ala672Ala/c.2016T>C,gcT/gcC,LOW,COSM450073(1),0.188898,0.0754,rs42360,,,,,,chr5,77412011,77412011,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala623Ala/c.1869T>C|1045|AP3B1|protein_coding|CODING|NM_001271769.1|18|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala672Ala/c.2016T>C|1094|AP3B1|protein_coding|CODING|NM_003664.4|18|1)","HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1166,0.3271,0.2127,,,,,,,,,,,,,,,,,,,
missense_variant,AP3B1,MISSENSE,NM_003664.4:p.Val585Glu/c.1754T>A,gTa/gAa,MODERATE,,,,rs6453373,1(T),0.0(B),0(N),-0.9388(T),,chr5,77425028,77425028,A,T,hom,"missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val536Glu/c.1607T>A|1045|AP3B1|protein_coding|CODING|NM_001271769.1|16|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val585Glu/c.1754T>A|1094|AP3B1|protein_coding|CODING|NM_003664.4|16|1)","HMEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.000000(N),0.940(P),"2.7,2.7(T,T)",0.0000(T),0.315,-0.345107,5.41,5.41,-0.257000,0.885000,6.307000,0.996000,1.000000,1.000000,11.8543
synonymous_variant,SCAMP1,SILENT,NM_004866.5:p.Ser41Ser/c.123G>A,tcG/tcA,LOW,,0.16853,0.0754,rs3922654,,,,,,chr5,77684726,77684726,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser41Ser/c.123G>A|337|SCAMP1|protein_coding|CODING|NM_004866.5|2|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.58-26618G>A|311|SCAMP1|protein_coding|CODING|NM_001290229.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.292G>A||SCAMP1||CODING|NR_110885.1|2|1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1564,0.438,0.2068,,,,,,,,,,,,,,,,,,,
synonymous_variant,LHFPL2,SILENT,NM_005779.2:p.Asn223Asn/c.669T>C,aaT/aaC,LOW,,,,rs2241566,,,,,,chr5,77784738,77784738,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn223Asn/c.669T>C|228|LHFPL2|protein_coding|CODING|NM_005779.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ARSB,MISSENSE,NM_000046.3:p.Val376Met/c.1126G>A,Gtg/Atg,MODERATE,COSM3761331(1),0.108626,0.0149,rs1071598,0.23(T),"0.131,0.155(B,B)",0.8(N),-0.9148(T),,chr5,78181423,78181423,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val376Met/c.1126G>A|533|ARSB|protein_coding|CODING|NM_000046.3|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val376Met/c.1126G>A|413|ARSB|protein_coding|CODING|NM_198709.2|6|1)","IMR90:H3K36me3,HepG2:H3K36me3",,RCV000077998.1,,0.1881,0.196,0.1461,,,,,0.005530(N),0.007(P),"-3.99,-3.99(D,D)",0.0029(T),0.094,2.417132,5.46,0.601,-0.254000,-0.194000,2.189000,0.898000,0.962000,0.977000,9.6382
missense_variant,ARSB,MISSENSE,NM_000046.3:p.Val358Met/c.1072G>A,Gtg/Atg,MODERATE,,0.285543,0.372,rs1065757,0.13(T),"0.994,0.91(D,D)",1.57(L),-1.5423(T),,chr5,78181477,78181477,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val358Met/c.1072G>A|533|ARSB|protein_coding|CODING|NM_000046.3|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val358Met/c.1072G>A|413|ARSB|protein_coding|CODING|NM_198709.2|6|1)","IMR90:H3K36me3,HepG2:H3K36me3",,RCV000077997.1,,0.2444,0.4294,0.4662,,,,,0.000002(D),0.000(P),"-4.96,-4.96(D,D)",0.0000(T),0.323,4.121790,5.46,5.46,0.561000,2.555000,3.985000,0.986000,0.410000,0.997000,18.2841
missense_variant,BHMT,MISSENSE,NM_001713.2:p.Arg239Gln/c.716G>A,cGa/cAa,MODERATE,,0.290735,0.3155,rs3733890,0.3(T),"0.064,0.001(B,B)",0(N),-0.9363(T),,chr5,78421959,78421959,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg239Gln/c.716G>A|406|BHMT|protein_coding|CODING|NM_001713.2|6|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.2883,0.3775,0.3231,,,,,0.069629(N),0.129(P),"1.57,1.57(T,T)",0.0000(T),0.066,2.512207,5.66,3.51,0.655000,1.533000,2.821000,0.749000,0.004000,0.083000,4.6612
missense_variant,JMY,MISSENSE,NM_152405.4:p.Ala62Val/c.185C>T,gCg/gTg,MODERATE,,0.328075,0.37,rs3733893,0.11(T),0.011(B),1.355(L),-0.9280(T),,chr5,78532658,78532658,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala62Val/c.185C>T|988|JMY|protein_coding|CODING|NM_152405.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4458,0.4236,0.339,,,,,0.866727(U),0.977(P),3.21(T),0.0000(T),0.098,2.836013,3.81,1.95,0.462000,0.707000,0.737000,0.423000,0.946000,0.998000,7.4556
missense_variant,JMY,MISSENSE,NM_152405.4:p.Met364Leu/c.1090A>T,Atg/Ttg,MODERATE,COSM4003606(2),0.480631,0.4851,rs13182512,0.25(T),0.002(B),1.1(L),-0.9664(T),,chr5,78573790,78573790,A,T,het,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met364Leu/c.1090A>T|988|JMY|protein_coding|CODING|NM_152405.4|2|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4315,0.5562,0.6243,,,,,0.007197(N),0.910(P),3.23(T),0.0000(T),0.058,-0.022008,5.37,-4.71,-1.251000,-0.624000,1.365000,0.963000,0.976000,1.000000,5.5033
synonymous_variant,JMY,SILENT,NM_152405.4:p.Asp532Asp/c.1596T>C,gaT/gaC,LOW,COSM3761333(1),0.679712,0.6319,rs10514159,,,,,,chr5,78596044,78596044,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp532Asp/c.1596T>C|988|JMY|protein_coding|CODING|NM_152405.4|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5133,0.585,0.6163,,,,,,,,,,,,,,,,,,,
synonymous_variant,JMY,SILENT,NM_152405.4:p.Pro782Pro/c.2346C>T,ccC/ccT,LOW,,0.00938498,0,rs61751239,,,,,,chr5,78610361,78610361,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro782Pro/c.2346C>T|988|JMY|protein_coding|CODING|NM_152405.4|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0202,0.0298,,,,,,,,,,,,,,,,,,,
missense_variant,CMYA5,MISSENSE,NM_153610.4:p.Lys3583Glu/c.10747A>G,Aaa/Gaa,MODERATE,,0.0996406,0.0833,rs12514461,0.04(D),0.727(P),1.89(L),-1.0518(T),,chr5,79041057,79041057,A,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys3583Glu/c.10747A>G|4069|CMYA5|protein_coding|CODING|NM_153610.4|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.1186,0.1744,0.1252,,,,,0.000044(D),0.090(P),1.73(T),0.0004(T),0.137,2.478239,5.43,5.43,0.533000,2.179000,4.280000,0.991000,1.000000,1.000000,8.2949
synonymous_variant,CMYA5,SILENT,NM_153610.4:p.Phe3685Phe/c.11055C>T,ttC/ttT,LOW,COSM149872(2),0.23123,0.4157,rs1366272,,,,,,chr5,79048562,79048562,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe3685Phe/c.11055C>T|4069|CMYA5|protein_coding|CODING|NM_153610.4|6|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.183,0.1945,0.1044,,,,,,,,,,,,,,,,,,,
missense_variant,MTX3,MISSENSE,NM_001167741.1:p.Ser177Arg/c.531C>G,agC/agG,MODERATE,,0.0690895,0.0079,rs9293796,0.39(T),"0.023,0.027(B,B)",0.725(N),-1.0449(T),,chr5,79282798,79282798,G,C,het,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser238Arg/c.714C>G|248|MTX3|protein_coding|CODING|NM_001010891.4|7|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser177Arg/c.531C>G|251|MTX3|protein_coding|CODING|NM_001167741.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.0836,0.1421,,,,,,1.000(P),"0.83,0.83,0.83(T,T,T)",0.0004(T),0.132,1.657008,5.92,0.553,0.467000,0.416000,1.525000,0.977000,0.556000,0.780000,5.7058
synonymous_variant,THBS4,SILENT,NM_003248.4:p.Pro179Pro/c.537A>T,ccA/ccT,LOW,COSM149873(2),0.569489,0.5139,rs438042,,,,,,chr5,79351852,79351852,A,T,het,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro179Pro/c.537A>T|961|THBS4|protein_coding|CODING|NM_003248.4|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.546,0.5476,0.5527,,,,,,,,,,,,,,,,,,,
missense_variant,THBS4,MISSENSE,NM_003248.4:p.Ala387Pro/c.1159G>C,Gcg/Ccg,MODERATE,,0.125799,0.0506,rs1866389,0.8(T),0.352(B),-1.06(N),-0.9028(T),,chr5,79361265,79361265,G,C,het,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala387Pro/c.1159G>C|961|THBS4|protein_coding|CODING|NM_003248.4|9|1),downstream_gene_variant(MODIFIER||907|||CTD-2201I18.1||NON_CODING|NR_109930.1||1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.1667,0.1311,0.2326,,,,,0.000005(D),0.114(P),"-3.0,-3.0(D,D)",0.0003(T),0.184,2.535439,5.19,5.19,0.655000,2.711000,2.875000,0.026000,0.989000,0.995000,15.9889
missense_variant,SPZ1,MISSENSE,NM_032567.3:p.Glu9Lys/c.25G>A,Gag/Aag,MODERATE,,0.00778754,0,rs56226654,0.06(T),0.054(B),1.385(L),-1.0422(T),,chr5,79616059,79616059,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu9Lys/c.25G>A|430|SPZ1|protein_coding|CODING|NM_032567.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.0031,0.013,0.0239,,,,,0.268141(N),1.000(N),"0.65,1.27(T,T)",0.0334(T),0.314,3.035117,4.19,0.363,-0.379000,0.039000,0.960000,0.024000,0.119000,0.858000,4.085
missense_variant,SPZ1,MISSENSE,NM_032567.3:p.Val17Leu/c.49G>C,Gtt/Ctt,MODERATE,,0.791933,0.9395,rs1862136,1(T),0.0(B),-0.455(N),-0.9798(T),,chr5,79616083,79616083,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val17Leu/c.49G>C|430|SPZ1|protein_coding|CODING|NM_032567.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.8006,0.6729,0.6342,,,,,0.468414(N),1.000(P),"0.85,1.45(T,T)",0.0000(T),0.303,-1.351212,4.19,1.24,-1.481000,0.011000,-0.295000,0.010000,0.000000,0.000000,4.1624
missense_variant,SPZ1,MISSENSE,NM_032567.3:p.His301Pro/c.902A>C,cAt/cCt,MODERATE,COSM4160025(1),0.0948482,0,rs35337118,0.25(T),0.003(B),1.495(L),-1.0395(T),,chr5,79616936,79616936,A,C,het,missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His301Pro/c.902A>C|430|SPZ1|protein_coding|CODING|NM_032567.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.137,0.1138,0.162,,,,,0.108464(N),1.000(P),1.44(T),0.0002(T),0.073,2.323161,4.4,-3.41,-0.503000,-0.560000,0.033000,0.007000,0.000000,0.000000,0.6407
missense_variant,ZFYVE16,MISSENSE,NM_001105251.2:p.Ile192Thr/c.575T>C,aTc/aCc,MODERATE,,0.760982,0.9157,rs2544600,0.42(T),"0.0,0.016(B,B)",0.55(N),-0.9852(T),,chr5,79733079,79733079,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile192Thr/c.575T>C|1539|ZFYVE16|protein_coding|CODING|NM_001105251.2|4|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile192Thr/c.575T>C|1539|ZFYVE16|protein_coding|CODING|NM_001284236.1|4|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile192Thr/c.575T>C|809|ZFYVE16|protein_coding|CODING|NM_001284237.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile192Thr/c.575T>C|1539|ZFYVE16|protein_coding|CODING|NM_014733.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8211,0.8761,0.8946,,,,,0.044433(N),1.000(P),"1.21,1.21,1.21(T,T,T)",0.0000(T),0.011,-1.849944,5.13,-6.06,-1.773000,-0.946000,-0.243000,0.147000,0.000000,0.000000,1.2098
missense_variant,ZFYVE16,MISSENSE,NM_001105251.2:p.Ile598Thr/c.1793T>C,aTa/aCa,MODERATE,,0.853634,0.9196,rs259028,1(T),"0.0,0.0(B,B)",-1.1(N),-0.9554(T),,chr5,79734297,79734297,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile598Thr/c.1793T>C|1539|ZFYVE16|protein_coding|CODING|NM_001105251.2|4|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile598Thr/c.1793T>C|1539|ZFYVE16|protein_coding|CODING|NM_001284236.1|4|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile598Thr/c.1793T>C|809|ZFYVE16|protein_coding|CODING|NM_001284237.1|3|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile598Thr/c.1793T>C|1539|ZFYVE16|protein_coding|CODING|NM_014733.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.865,0.9294,0.9334,,,,,0.003613(N),1.000(P),"1.35,1.35,1.35(T,T,T)",0.0000(T),0.161,-1.347535,5.42,4.56,-0.128000,0.800000,0.383000,0.856000,0.989000,0.045000,10.6684
synonymous_variant,ZFYVE16,SILENT,NM_001105251.2:p.Ser635Ser/c.1905G>A,tcG/tcA,LOW,,0.873602,0.9196,rs259029,,,,,,chr5,79734409,79734409,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser635Ser/c.1905G>A|1539|ZFYVE16|protein_coding|CODING|NM_001105251.2|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser635Ser/c.1905G>A|1539|ZFYVE16|protein_coding|CODING|NM_001284236.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser635Ser/c.1905G>A|809|ZFYVE16|protein_coding|CODING|NM_001284237.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser635Ser/c.1905G>A|1539|ZFYVE16|protein_coding|CODING|NM_014733.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8742,0.938,0.9433,,,,,,,,,,,,,,,,,,,
missense_variant,ZFYVE16,MISSENSE,NM_001284237.1:p.Tyr809Cys/c.2426A>G,tAt/tGt,MODERATE,,0.744209,0.9157,rs168939,,,,,,chr5,79735858,79735858,A,G,hom,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr809Cys/c.2426A>G|809|ZFYVE16|protein_coding|CODING|NM_001284237.1|4|1),splice_region_variant(LOW|||c.2420A>G|1539|ZFYVE16|protein_coding|CODING|NM_001105251.2|5|1),splice_region_variant(LOW|||c.2420A>G|1539|ZFYVE16|protein_coding|CODING|NM_001284236.1|5|1),splice_region_variant(LOW|||c.2420A>G|1539|ZFYVE16|protein_coding|CODING|NM_014733.4|4|1),intron_variant(MODIFIER|||c.2419+7A>G|1539|ZFYVE16|protein_coding|CODING|NM_001105251.2|5|1),intron_variant(MODIFIER|||c.2419+7A>G|1539|ZFYVE16|protein_coding|CODING|NM_001284236.1|5|1),intron_variant(MODIFIER|||c.2419+7A>G|1539|ZFYVE16|protein_coding|CODING|NM_014733.4|4|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.8211,0.8689,0.8907,,,,,,,,,,,,,,,,,,,
missense_variant,ZFYVE16,MISSENSE,NM_001105251.2:p.Ser1055Gly/c.3163A>G,Agc/Ggc,MODERATE,,0.853435,0.9196,rs249038,1(T),0.0(B),-1.645(N),-0.9631(T),,chr5,79745469,79745469,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1055Gly/c.3163A>G|1539|ZFYVE16|protein_coding|CODING|NM_001105251.2|9|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1055Gly/c.3163A>G|1539|ZFYVE16|protein_coding|CODING|NM_001284236.1|9|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1055Gly/c.3163A>G|1539|ZFYVE16|protein_coding|CODING|NM_014733.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.864,0.9294,0.9334,,,,,0.259070(N),1.000(P),"1.35,1.35,1.35(T,T,T)",0.0000(T),0.04,-1.190128,5.91,5.05,-0.128000,0.864000,2.200000,0.024000,0.362000,1.000000,12.5693
missense_variant,FAM151B,MISSENSE,NM_205548.2:p.Ile155Thr/c.464T>C,aTa/aCa,MODERATE,,0.733427,0.6062,rs369998,0.65(T),0.0(B),-2.075(N),-1.0137(T),,chr5,79815658,79815658,T,C,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile155Thr/c.464T>C|276|FAM151B|protein_coding|CODING|NM_205548.2|4|1),,,,,0.7117,0.6974,0.7863,,,,,0.001233(N),1.000(P),2.88(T),0.0000(T),0.037,-0.030272,5.76,5.76,-0.154000,1.438000,1.174000,0.751000,0.998000,0.664000,10.351
missense_variant,ANKRD34B,MISSENSE,NM_001004441.2:p.Leu156Ser/c.467T>C,tTg/tCg,MODERATE,,0.942492,0.998,rs32857,1(T),0.0(B),-1.565(N),-0.9469(T),,chr5,79855372,79855372,A,G,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu156Ser/c.467T>C|514|ANKRD34B|protein_coding|CODING|NM_001004441.2|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9049,0.9207,0.8718,,,,,0.065114(N),1.000(P),2.28(T),0.0000(T),0.087,-1.346949,5.82,5.82,-0.119000,1.476000,2.696000,0.324000,0.069000,0.892000,13.9291
missense_variant,MSH3,MISSENSE,NM_002439.4:p.Ile79Val/c.235A>G,Ata/Gta,MODERATE,COSM4160035(1),0.76857,0.6607,rs1650697,,0.0(B),-0.895(N),-1.0213(T),,chr5,79950781,79950781,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile79Val/c.235A>G|1137|MSH3|protein_coding|CODING|NM_002439.4|1|1),splice_region_variant(LOW|||c.235A>G|1137|MSH3|protein_coding|CODING|NM_002439.4|1|1),5_prime_UTR_variant(MODIFIER||5488|c.-579T>C|135|DHFR|protein_coding|CODING|NM_001290354.1|1|1),5_prime_UTR_variant(MODIFIER||473|c.-473T>C|187|DHFR|protein_coding|CODING|NM_000791.3|1|1),5_prime_UTR_variant(MODIFIER||473|c.-473T>C|129|DHFR|protein_coding|CODING|NM_001290357.1|1|1),non_coding_exon_variant(MODIFIER|||n.20T>C||DHFR||CODING|NR_110936.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4",,,,0.6779,0.755,0.7555,,,,,0.309797(N),1.000(P),-2.04(D),0.0000(T),0.069,0.970033,3.71,-4.46,-1.466000,-1.742000,-0.493000,0.000000,0.000000,0.000000,3.0405
missense_variant,MSH3,MISSENSE,NM_002439.4:p.Gln949Arg/c.2846A>G,cAg/cGg,MODERATE,COSM4160036(1),0.902157,1,rs184967,,0.001(B),-0.185(N),-0.9477(T),,chr5,80149981,80149981,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln949Arg/c.2846A>G|1137|MSH3|protein_coding|CODING|NM_002439.4|21|1),HepG2:H3K36me3,,,,0.8742,0.8732,0.8598,,,,,0.000305(N),1.000(P),-1.93(D),0.0000(T),0.023,0.477380,5.25,0.287,-0.119000,-0.255000,0.401000,0.928000,0.988000,0.837000,12.4564
missense_variant,MSH3,MISSENSE,NM_002439.4:p.Ala1045Thr/c.3133G>A,Gca/Aca,MODERATE,,0.720248,0.753,rs26279,,0.035(B),0.28(N),-0.9490(T),,chr5,80168937,80168937,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1045Thr/c.3133G>A|1137|MSH3|protein_coding|CODING|NM_002439.4|23|1),splice_region_variant(LOW|||c.3133G>A|1137|MSH3|protein_coding|CODING|NM_002439.4|23|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7904,0.6945,0.7227,,,,,0.570285(N),1.000(P),-2.14(D),0.0000(T),0.027,1.035347,4.92,-2.54,-0.555000,-0.192000,1.014000,0.316000,0.005000,0.878000,2.3626
synonymous_variant,RASGRF2,SILENT,NM_006909.2:p.Ser820Ser/c.2460T>C,agT/agC,LOW,COSM1132101(1),0.436302,0.254,rs10942942,,,,,,chr5,80409729,80409729,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser820Ser/c.2460T>C|1237|RASGRF2|protein_coding|CODING|NM_006909.2|15|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.4611,0.3271,0.4394,,,,,,,,,,,,,,,,,,,
missense_variant,ATG10,MISSENSE,NM_001131028.1:p.Thr212Met/c.635C>T,aCg/aTg,MODERATE,,0.520767,0.8909,rs1864183,0.17(T),0.006(B),-0.69(N),-1.0131(T),,chr5,81549216,81549216,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr212Met/c.635C>T|220|ATG10|protein_coding|CODING|NM_001131028.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr212Met/c.635C>T|220|ATG10|protein_coding|CODING|NM_031482.4|7|1)",NHEK:H3K36me3,,,,0.6319,0.5692,0.4632,,,,,0.768935(N),1.000(P),"1.93,1.93(T,T)",0.0000(T),0.065,1.792911,6.07,1.65,0.655000,0.404000,-0.065000,0.132000,0.000000,0.000000,5.6695
missense_variant,ATG10,MISSENSE,NM_001131028.1:p.Pro220His/c.659C>A,cCt/cAt,MODERATE,,0.561901,0.9077,rs1864182,0(D),0.0(B),0(N),-0.9227(T),,chr5,81549240,81549240,C,A,hom,"missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro220His/c.659C>A|220|ATG10|protein_coding|CODING|NM_001131028.1|8|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro220His/c.659C>A|220|ATG10|protein_coding|CODING|NM_031482.4|7|1)",NHEK:H3K36me3,,,,0.6973,0.611,0.5537,,,,,0.015598(N),1.000(P),"1.89,1.89(T,T)",0.0000(T),0.033,1.045998,5.75,-2.66,-0.976000,-0.968000,-0.323000,0.000000,0.000000,0.000000,0.8103
splice_acceptor_variant,XRCC4,protein_coding,NM_022406.2:c.894G>A,,HIGH,,0.3752,0.7044,rs111182167,,,,,XRCC4:0.33(3);,chr5,82648943,82648943,G,A,het,"splice_acceptor_variant(HIGH|||c.894G>A|336|XRCC4|protein_coding|CODING|NM_022406.2|8|1),intron_variant(MODIFIER|||c.894-1G>A|336|XRCC4|protein_coding|CODING|NM_022406.2|7|1),intron_variant(MODIFIER|||c.894-7G>A|334|XRCC4|protein_coding|CODING|NM_003401.3|7|1),intron_variant(MODIFIER|||c.894-7G>A|334|XRCC4|protein_coding|CODING|NM_022550.2|7|1)",,,,,0.1718,0.3329,0.1402,,,,,,0.999(P),,,.,-0.784496,5.51,-0.0652,-2.023000,-0.153000,-0.958000,0.002000,0.723000,0.003000,3.3151
synonymous_variant,XRCC4,SILENT,NM_022406.2:p.Ser309Ser/c.927T>G,tcT/tcG,LOW,,0.375599,0.7063,rs1056503,,,,,,chr5,82648977,82648977,T,G,het,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser309Ser/c.927T>G|336|XRCC4|protein_coding|CODING|NM_022406.2|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser307Ser/c.921T>G|334|XRCC4|protein_coding|CODING|NM_003401.3|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser307Ser/c.921T>G|334|XRCC4|protein_coding|CODING|NM_022550.2|8|1)",,,,,0.1718,0.3329,0.1402,,,,,,,,,,,,,,,,,,,
synonymous_variant,VCAN,SILENT,NM_004385.4:p.Thr116Thr/c.348T>C,acT/acC,LOW,COSM3761357(2),0.342252,0.2034,rs12332199,,,,,,chr5,82786194,82786194,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr116Thr/c.348T>C|655|VCAN|protein_coding|CODING|NM_001126336.2|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr116Thr/c.348T>C|2409|VCAN|protein_coding|CODING|NM_001164097.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr116Thr/c.348T>C|1642|VCAN|protein_coding|CODING|NM_001164098.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr116Thr/c.348T>C|3396|VCAN|protein_coding|CODING|NM_004385.4|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.1943,0.3775,0.3936,,,,,,,,,,,,,,,,,,,
synonymous_variant,VCAN,SILENT,NM_004385.4:p.Val215Val/c.645A>G,gtA/gtG,LOW,COSM3761358(1),0.238419,0.0893,rs4470745,,,,,,chr5,82789647,82789647,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val215Val/c.645A>G|655|VCAN|protein_coding|CODING|NM_001126336.2|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val215Val/c.645A>G|2409|VCAN|protein_coding|CODING|NM_001164097.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val215Val/c.645A>G|1642|VCAN|protein_coding|CODING|NM_001164098.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val215Val/c.645A>G|3396|VCAN|protein_coding|CODING|NM_004385.4|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.1943,0.281,0.4135,,,,,,,,,,,,,,,,,,,
missense_variant,VCAN,MISSENSE,NM_004385.4:p.Gln1032Glu/c.3094C>G,Cag/Gag,MODERATE,COSM1311364(1),0.000199681,0,rs201255257,0.81(T),"0.009,0.038(B,B)",1.43(L),-0.7102(T),,chr5,82817219,82817219,C,G,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln1032Glu/c.3094C>G|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln1032Glu/c.3094C>G|3396|VCAN|protein_coding|CODING|NM_004385.4|7|1),intron_variant(MODIFIER|||c.1042+9004C>G|2409|VCAN|protein_coding|CODING|NM_001164097.1|6|1),intron_variant(MODIFIER|||c.1042+9004C>G|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0,0,0.001,,,,,0.310062(N),1.000(N),"-1.84,-1.92,-1.94(D,D,D)",0.4463(T),0.226,-0.635149,5.03,4.13,0.467000,1.283000,1.115000,0.379000,0.027000,0.001000,9.6604
synonymous_variant,VCAN,SILENT,NM_004385.4:p.Gln1441Gln/c.4323G>A,caG/caA,LOW,,,,rs2548541,,,,,,chr5,82833145,82833145,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln454Gln/c.1362G>A|2409|VCAN|protein_coding|CODING|NM_001164097.1|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1441Gln/c.4323G>A|3396|VCAN|protein_coding|CODING|NM_004385.4|8|1),intron_variant(MODIFIER|||c.1043-8211G>A|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1),intron_variant(MODIFIER|||c.4004-8211G>A|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,VCAN,MISSENSE,NM_004385.4:p.Lys1516Arg/c.4547A>G,aAa/aGa,MODERATE,,0.471046,0.3919,rs309559,0.29(T),"0.026,0.012(B,B)",0(N),-0.9327(T),,chr5,82833369,82833369,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys529Arg/c.1586A>G|2409|VCAN|protein_coding|CODING|NM_001164097.1|7|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1516Arg/c.4547A>G|3396|VCAN|protein_coding|CODING|NM_004385.4|8|1),intron_variant(MODIFIER|||c.1043-7987A>G|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1),intron_variant(MODIFIER|||c.4004-7987A>G|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.4018,0.5274,0.5258,,,,,0.110638(N),1.000(P),"-1.89,-1.91,3.24(D,D,T)",0.0000(T),0.022,-1.033169,5.96,2.79,-1.027000,0.852000,0.289000,0.000000,0.002000,0.002000,9.2557
missense_variant,VCAN,MISSENSE,NM_004385.4:p.Arg1826His/c.5477G>A,cGt/cAt,MODERATE,,0.358427,0.3234,rs188703,0.09(T),"0.077,0.035(B,B)",0(N),-1.0246(T),,chr5,82834299,82834299,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg839His/c.2516G>A|2409|VCAN|protein_coding|CODING|NM_001164097.1|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg1826His/c.5477G>A|3396|VCAN|protein_coding|CODING|NM_004385.4|8|1),intron_variant(MODIFIER|||c.1043-7057G>A|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1),intron_variant(MODIFIER|||c.4004-7057G>A|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.271,0.4611,0.4254,,,,,0.964443(N),1.000(P),"-1.85,-1.88,3.27(D,D,T)",0.0000(T),0.027,1.956712,5.82,0.253,0.655000,0.328000,0.786000,0.027000,0.001000,0.003000,2.0501
synonymous_variant,VCAN,SILENT,NM_004385.4:p.Gly1936Gly/c.5808T>C,ggT/ggC,LOW,,0.46865,0.3919,rs309557,,,,,,chr5,82834630,82834630,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly949Gly/c.2847T>C|2409|VCAN|protein_coding|CODING|NM_001164097.1|7|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1936Gly/c.5808T>C|3396|VCAN|protein_coding|CODING|NM_004385.4|8|1),intron_variant(MODIFIER|||c.1043-6726T>C|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1),intron_variant(MODIFIER|||c.4004-6726T>C|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HeLa-S3:Nrsf,HepG2:H3K27me3",,,,0.4008,0.5288,0.5258,,,,,,,,,,,,,,,,,,,
synonymous_variant,VCAN,SILENT,NM_004385.4:p.Arg2241Arg/c.6723A>G,agA/agG,LOW,,0.470447,0.3919,rs160279,,,,,,chr5,82835545,82835545,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg1254Arg/c.3762A>G|2409|VCAN|protein_coding|CODING|NM_001164097.1|7|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg2241Arg/c.6723A>G|3396|VCAN|protein_coding|CODING|NM_004385.4|8|1),intron_variant(MODIFIER|||c.1043-5811A>G|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1),intron_variant(MODIFIER|||c.4004-5811A>G|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4018,0.5288,0.5249,,,,,,,,,,,,,,,,,,,
missense_variant,VCAN,MISSENSE,NM_004385.4:p.Phe2301Tyr/c.6902T>A,tTt/tAt,MODERATE,,0.46845,0.3919,rs160278,1(T),"0.0,0.0(B,B)",0.14(N),-0.9330(T),,chr5,82835724,82835724,T,A,hom,"missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe1314Tyr/c.3941T>A|2409|VCAN|protein_coding|CODING|NM_001164097.1|7|1),missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe2301Tyr/c.6902T>A|3396|VCAN|protein_coding|CODING|NM_004385.4|8|1),intron_variant(MODIFIER|||c.1043-5632T>A|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1),intron_variant(MODIFIER|||c.4004-5632T>A|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.4008,0.5231,0.5199,,,,,0.701319(N),1.000(P),"2.33,2.33(T,T)",0.0000(T),0.047,-2.279707,6.07,3.61,-1.150000,0.527000,0.374000,0.003000,0.001000,0.002000,6.6224
missense_variant,VCAN,MISSENSE,NM_004385.4:p.Asp2937Tyr/c.8809G>T,Gat/Tat,MODERATE,,0.360623,0.3234,rs160277,0.04(D),"0.706,0.607(P,P)",0.895(L),-0.9169(T),,chr5,82837631,82837631,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp1950Tyr/c.5848G>T|2409|VCAN|protein_coding|CODING|NM_001164097.1|7|1),missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp2937Tyr/c.8809G>T|3396|VCAN|protein_coding|CODING|NM_004385.4|8|1),intron_variant(MODIFIER|||c.1043-3725G>T|655|VCAN|protein_coding|CODING|NM_001126336.2|6|1),intron_variant(MODIFIER|||c.4004-3725G>T|1642|VCAN|protein_coding|CODING|NM_001164098.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3",,,,0.2669,0.4597,0.4254,,,,,0.904317(N),1.000(P),"2.22,2.22(T,T)",0.0000(T),0.067,2.079124,5.99,0.819,-0.312000,0.540000,0.638000,0.083000,0.001000,0.001000,2.3966
synonymous_variant,HAPLN1,SILENT,NM_001884.3:p.Gly228Gly/c.684G>C,ggG/ggC,LOW,,0.738219,0.5813,rs2242128,,,,,,chr5,82940273,82940273,C,G,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly228Gly/c.684G>C|354|HAPLN1|protein_coding|CODING|NM_001884.3|4|1),,,,,0.729,0.7565,0.7187,,,,,,,,,,,,,,,,,,,
missense_variant,CCNH,MISSENSE,NM_001239.3:p.Val270Ala/c.809T>C,gTt/gCt,MODERATE,,0.119808,0.0804,rs2230641,0.17(T),"0.711,0.818(P,P)",2.89(M),-1.1706(T),,chr5,86695274,86695274,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val217Ala/c.650T>C|270|CCNH|protein_coding|CODING|NM_001199189.1|7|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val270Ala/c.809T>C|323|CCNH|protein_coding|CODING|NM_001239.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1299,0.134,0.2207,,,,,0.000000(D),0.000(P),"0.81,0.81,0.81(T,T,T)",0.0002(T),0.311,4.934189,5.68,5.68,0.533000,2.175000,8.448000,0.996000,1.000000,1.000000,15.9323
synonymous_variant,TMEM161B,SILENT,NM_001289007.1:p.Leu282Leu/c.844C>T,Ctg/Ttg,LOW,,0.48103,0.7897,rs3097146,,,,,,chr5,87498849,87498849,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu282Leu/c.844C>T|502|TMEM161B|protein_coding|CODING|NM_001289007.1|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu271Leu/c.811C>T|476|TMEM161B|protein_coding|CODING|NM_001289008.1|10|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu282Leu/c.844C>T|487|TMEM161B|protein_coding|CODING|NM_153354.4|9|1),non_coding_exon_variant(MODIFIER|||n.1100C>T||TMEM161B||CODING|NR_110266.1|10|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4724,0.6095,0.5875,,,,,,,,,,,,,,,,,,,
missense_variant,CETN3,MISSENSE,NM_001297765.1:p.Val10Leu/c.28G>C,Gta/Cta,MODERATE,,0.185304,0.2034,rs4873,0.76(T),0.001(B),0(N),-1.0906(T),,chr5,89703641,89703641,C,G,het,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val10Leu/c.28G>C|191|CETN3|protein_coding|CODING|NM_001297765.1|2|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val10Leu/c.28G>C|153|CETN3|protein_coding|CODING|NM_001297768.1|2|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val10Leu/c.28G>C|167|CETN3|protein_coding|CODING|NM_004365.3|2|1)","K562:H3K36me3,HSMM:H3K36me3",,,,0.2781,0.1585,0.2565,,,,,0.120077(N),0.971(P),"-0.13,-0.68,-0.76,-0.52,-0.57(T,T,T,T,T)",0.0000(T),0.071,1.812032,5.44,3.64,0.561000,0.643000,2.485000,0.984000,1.000000,1.000000,8.0433
missense_variant,MBLAC2,MISSENSE,NM_203406.1:p.Thr128Ala/c.382A>G,Acg/Gcg,MODERATE,COSM1754361(1),0.984026,0.9216,rs2162986,0.64(T),0.0(B),-1.27(N),-0.9593(T),,chr5,89769728,89769728,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr128Ala/c.382A>G|279|MBLAC2|protein_coding|CODING|NM_203406.1|1|1),upstream_gene_variant(MODIFIER||953||223|POLR3G|protein_coding|CODING|NM_006467.2||1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,K562:PolII,HUVEC:Max,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.000803(N),0.000(P),"-0.52,1.03(T,T)",0.0000(T),0.067,1.692901,5.34,4.47,-0.213000,0.635000,1.332000,0.987000,1.000000,1.000000,8.176
synonymous_variant,MBLAC2,SILENT,NM_203406.1:p.Gly37Gly/c.111C>T,ggC/ggT,LOW,COSM3761363(1),0.0694888,0.006,rs2115501,,,,,,chr5,89769999,89769999,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly37Gly/c.111C>T|279|MBLAC2|protein_coding|CODING|NM_203406.1|1|1),upstream_gene_variant(MODIFIER||682||223|POLR3G|protein_coding|CODING|NM_006467.2||1)","NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.0481,0.0648,0.1402,,,,,,,,,,,,,,,,,,,
synonymous_variant,LYSMD3,SILENT,NM_198273.2:p.Glu41Glu/c.123A>G,gaA/gaG,LOW,,0.61262,0.6081,rs10069050,,,,,,chr5,89820984,89820984,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu41Glu/c.123A>G|127|LYSMD3|protein_coding|CODING|NM_001286812.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu41Glu/c.123A>G|306|LYSMD3|protein_coding|CODING|NM_198273.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6125,0.428,0.5408,,,,,,,,,,,,,,,,,,,
synonymous_variant,GPR98,SILENT,NM_032119.3:p.Ala1047Ala/c.3141A>G,gcA/gcG,LOW,COSM3761364(2),0.221446,0.379,rs111184686,,,,-0.9244(T),,chr5,89943433,89943433,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1047Ala/c.3141A>G|6306|GPR98|protein_coding|CODING|NM_032119.3|17|1),non_coding_exon_variant(MODIFIER|||n.3237A>G||GPR98||CODING|NR_003149.1|17|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K27ac,K562:H3K36me3,K562:H3K4me2,K562:DNase1",,RCV000039566.1|RCV000125300.1,,0.2188,0.1499,0.1412,,,,,,1.000(P),,0.0000(T),.,-0.957255,5.49,-4.27,-0.263000,-0.196000,-1.132000,0.029000,0.000000,0.000000,0.4523
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Leu1093Phe/c.3279G>T,ttG/ttT,MODERATE,,0.810304,0.8323,rs2366777,,,-0.77(N),,,chr5,89943571,89943571,G,T,hom,"missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu1093Phe/c.3279G>T|6306|GPR98|protein_coding|CODING|NM_032119.3|17|1),non_coding_exon_variant(MODIFIER|||n.3375G>T||GPR98||CODING|NR_003149.1|17|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K27ac,K562:H3K36me3,HepG2:H3K27me3,K562:H3K4me2",,RCV000039569.1,,0.7434,0.8069,0.667,,,,,,0.000(P),,,.,-0.384083,5.79,2.13,-0.264000,-0.087000,0.204000,0.847000,0.996000,0.988000,6.532
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Val1951Ile/c.5851G>A,Gtc/Atc,MODERATE,COSM3736391(2),0.803714,0.8343,rs4916684,0.78(T),0.001(B),-1.995(N),-1.0046(T),,chr5,89979589,89979589,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1951Ile/c.5851G>A|6306|GPR98|protein_coding|CODING|NM_032119.3|28|1),non_coding_exon_variant(MODIFIER|||n.5947G>A||GPR98||CODING|NR_003149.1|28|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039599.1,,0.7413,0.7983,0.665,,,,,0.000299(N),0.000(P),1.84(T),0.0000(T),0.029,-1.847211,5.7,3.21,-1.571000,0.073000,0.569000,0.014000,0.383000,0.041000,3.6753
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Asn1985Asp/c.5953A>G,Aac/Gac,MODERATE,COSM3761367(2),0.276757,0.4335,rs41303352,0.28(T),0.012(B),1.115(L),-0.9439(T),,chr5,89979691,89979691,A,G,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1985Asp/c.5953A>G|6306|GPR98|protein_coding|CODING|NM_032119.3|28|1),non_coding_exon_variant(MODIFIER|||n.6049A>G||GPR98||CODING|NR_003149.1|28|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039600.1|RCV000125262.1,,0.2188,0.1729,0.1402,,,,,0.000016(N),0.000(P),1.58(T),0.0000(T),0.005,2.539780,5.71,4.52,0.482000,0.962000,4.033000,0.812000,0.983000,1.000000,11.8275
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Pro1987Leu/c.5960C>T,cCt/cTt,MODERATE,COSM149880(3),0.33726,0.375,rs4916685,1(T),0.995(D),2.3(M),-0.9889(T),,chr5,89979698,89979698,C,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1987Leu/c.5960C>T|6306|GPR98|protein_coding|CODING|NM_032119.3|28|1),non_coding_exon_variant(MODIFIER|||n.6056C>T||GPR98||CODING|NR_003149.1|28|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039601.1,,0.2975,0.5086,0.3201,,,,,0.000002(D),0.000(P),1.57(T),0.0000(T),0.263,3.070043,5.71,4.84,0.591000,1.419000,3.803000,0.778000,0.990000,1.000000,14.7907
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Leu2004Phe/c.6012G>T,ttG/ttT,MODERATE,COSM3761368(2),0.313698,0.4335,rs16868972,0.05(D),0.995(D),2.215(M),-0.9183(T),,chr5,89979750,89979750,G,T,het,"missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu2004Phe/c.6012G>T|6306|GPR98|protein_coding|CODING|NM_032119.3|28|1),non_coding_exon_variant(MODIFIER|||n.6108G>T||GPR98||CODING|NR_003149.1|28|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039602.1|RCV000125263.1,,0.2393,0.1945,0.1561,,,,,0.000167(D),0.000(P),1.52(T),0.0000(T),0.173,3.208973,5.71,3.48,0.591000,1.243000,1.037000,0.976000,1.000000,0.993000,2.7537
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Tyr2232Cys/c.6695A>G,tAt/tGt,MODERATE,COSM3761369(1),0.34984,0.375,rs10037067,0.02(D),0.885(P),2.19(M),-0.9101(T),,chr5,89985882,89985882,A,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr2232Cys/c.6695A>G|6306|GPR98|protein_coding|CODING|NM_032119.3|30|1),non_coding_exon_variant(MODIFIER|||n.6791A>G||GPR98||CODING|NR_003149.1|30|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039612.1,,0.2975,0.5086,0.3221,,,,,0.000066(D),0.000(P),1.57(T),0.0000(T),0.236,3.319716,5.36,2.77,0.528000,0.834000,2.172000,0.995000,0.999000,1.000000,9.9896
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Asn2345Ser/c.7034A>G,aAt/aGt,MODERATE,COSM149882(4),0.322284,0.375,rs2366926,0(D),0.997(D),1.62(L),-0.9029(T),,chr5,89988504,89988504,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn2345Ser/c.7034A>G|6306|GPR98|protein_coding|CODING|NM_032119.3|32|1),non_coding_exon_variant(MODIFIER|||n.7047A>G||GPR98||CODING|NR_003149.1|32|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039616.1,,0.2975,0.5029,0.3191,,,,,0.000000(D),0.000(P),1.5(T),0.0000(T),0.076,4.498831,5.95,5.95,0.533000,2.279000,9.074000,0.995000,1.000000,1.000000,16.4237
synonymous_variant,GPR98,SILENT,NM_032119.3:p.Glu2402Glu/c.7206G>A,gaG/gaA,LOW,COSM3761370(1),0.322085,0.375,rs16876822,,,,,,chr5,89989779,89989779,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2402Glu/c.7206G>A|6306|GPR98|protein_coding|CODING|NM_032119.3|33|1),non_coding_exon_variant(MODIFIER|||n.7219G>A||GPR98||CODING|NR_003149.1|33|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000039621.1,,0.2975,0.5029,0.3191,,,,,,,,,,,,,,,,,,,
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Asn2584Ser/c.7751A>G,aAt/aGt,MODERATE,COSM3736393(2),0.808506,0.8323,rs1878878,,,-2.075(N),-0.9484(T),,chr5,89990324,89990324,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn2584Ser/c.7751A>G|6306|GPR98|protein_coding|CODING|NM_032119.3|33|1),non_coding_exon_variant(MODIFIER|||n.7764A>G||GPR98||CODING|NR_003149.1|33|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000039635.1,,0.7393,0.7997,0.666,,,,,,0.000(P),,0.0000(T),.,0.703903,5.88,5.88,-0.119000,1.505000,6.532000,0.801000,0.995000,1.000000,15.2859
synonymous_variant,GPR98,SILENT,NM_032119.3:p.Leu2846Leu/c.8538T>G,ctT/ctG,LOW,COSM3761371(2),0.275359,0.4306,rs6880570,,,,-0.9647(T),,chr5,90001368,90001368,T,G,het,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu2846Leu/c.8538T>G|6306|GPR98|protein_coding|CODING|NM_032119.3|37|1),non_coding_exon_variant(MODIFIER|||n.8551T>G||GPR98||CODING|NR_003149.1|37|1)","H1ESC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K27me3",,RCV000039646.1|RCV000125272.1,,0.2106,0.1729,0.1402,,,,,,0.000(P),,0.0000(T),.,1.147045,6.05,3.7,0.528000,0.554000,1.458000,0.994000,1.000000,1.000000,8.1634
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Ala3217Val/c.9650C>T,gCc/gTc,MODERATE,,0.00519169,0,rs114137750,0.04(D),"0.345,0.014(B,B)",1.355(L),-0.8950(T),,chr5,90016778,90016778,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala3217Val/c.9650C>T|6306|GPR98|protein_coding|CODING|NM_032119.3|45|1),non_coding_exon_variant(MODIFIER|||n.9663C>T||GPR98||CODING|NR_003149.1|45|1)","H1ESC:H3K36me3,K562:H3K36me3",,,,0.001,0.0058,0.0189,,,,,0.003419(N),1.000(D),1.63(T),0.1344(T),0.222,2.039593,5.76,5.76,0.650000,2.718000,3.420000,0.027000,0.999000,1.000000,15.4524
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Gly3248Asp/c.9743G>A,gGc/gAc,MODERATE,COSM3761372(1),0.221845,0.4286,rs16869032,,,2.14(M),-1.0718(T),,chr5,90016871,90016871,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly3248Asp/c.9743G>A|6306|GPR98|protein_coding|CODING|NM_032119.3|45|1),non_coding_exon_variant(MODIFIER|||n.9756G>A||GPR98||CODING|NR_003149.1|45|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039663.1|RCV000125275.1,,0.2096,0.1484,0.1402,,,,,,0.000(P),,0.0000(T),.,4.912449,5.85,5.85,0.650000,2.773000,7.126000,0.998000,1.000000,1.000000,20.1576
synonymous_variant,GPR98,SILENT,NM_032119.3:p.Pro3309Pro/c.9927T>G,ccT/ccG,LOW,COSM149884(3),,,rs16869042,,,,-0.9041(T),,chr5,90020923,90020923,T,G,het,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro3309Pro/c.9927T>G|6306|GPR98|protein_coding|CODING|NM_032119.3|47|1),non_coding_exon_variant(MODIFIER|||n.9940T>G||GPR98||CODING|NR_003149.1|47|1)",K562:H3K36me3,,RCV000039665.1,,,,,,,,,,0.000(P),,0.0000(T),.,0.884356,5.15,2.33,0.455000,0.900000,0.011000,0.997000,0.996000,0.305000,4.2044
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Glu3471Lys/c.10411G>A,Gaa/Aaa,MODERATE,,0.829073,0.8155,rs2366928,1(T),"0.0,0.0(B,B)",-1.87(N),-0.9604(T),,chr5,90024735,90024735,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu3471Lys/c.10411G>A|6306|GPR98|protein_coding|CODING|NM_032119.3|49|1),non_coding_exon_variant(MODIFIER|||n.10424G>A||GPR98||CODING|NR_003149.1|49|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039504.1,,0.8272,0.8285,0.6978,,,,,0.004852(N),0.000(P),1.81(T),0.0000(T),0.454,-0.315021,5.6,5.6,-0.254000,0.961000,4.384000,0.276000,0.995000,1.000000,11.6426
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Glu3867Lys/c.11599G>A,Gag/Aag,MODERATE,COSM3761373(1),0.296126,0.4871,rs10062026,0.18(T),"0.218,0.164(B,B)",1.7(L),-0.8210(T),,chr5,90052289,90052289,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu3867Lys/c.11599G>A|6306|GPR98|protein_coding|CODING|NM_032119.3|56|1),non_coding_exon_variant(MODIFIER|||n.11612G>A||GPR98||CODING|NR_003149.1|56|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039513.1,,0.2873,0.5144,0.3171,,,,,0.004929(N),0.000(P),1.24(T),0.0000(T),0.352,1.251332,5.82,5.82,0.467000,2.753000,3.071000,0.124000,0.999000,1.000000,10.3117
synonymous_variant,GPR98,SILENT,NM_032119.3:p.Pro3894Pro/c.11682C>T,ccC/ccT,LOW,COSM3761374(1),0.539337,0.4911,rs2438349,0.25(T),,,-0.9963(T),,chr5,90052372,90052372,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro3894Pro/c.11682C>T|6306|GPR98|protein_coding|CODING|NM_032119.3|56|1),non_coding_exon_variant(MODIFIER|||n.11695C>T||GPR98||CODING|NR_003149.1|56|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039514.1,,0.4131,0.6268,0.4453,,,,,0.000003(D),0.000(P),1.39(T),0.0000(T),.,-0.688783,5.82,-6.34,-0.516000,-1.933000,0.620000,0.008000,0.003000,0.997000,2.6686
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Glu5344Gly/c.16031A>G,gAg/gGg,MODERATE,,0.946086,1,rs2438374,,"0.0,0.0,0.001(B,B,B)",-1.185(N),-0.9704(T),,chr5,90107108,90107108,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu5344Gly/c.16031A>G|6306|GPR98|protein_coding|CODING|NM_032119.3|74|1),non_coding_exon_variant(MODIFIER|||n.16044A>G||GPR98||CODING|NR_003149.1|74|1)",K562:H3K36me3,,RCV000039538.2,,0.9959,0.9697,0.9791,,,,,0.000030(N),1.000(P),"1.84,1.77(T,T)",0.0000(T),0.042,-0.951207,5.47,4.61,-0.119000,0.701000,1.349000,0.474000,0.635000,0.894000,7.8851
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Val5427Met/c.16279G>A,Gtg/Atg,MODERATE,,0.972244,1,rs2438378,,"0.009,0.001,0.019(B,B,B)",0.205(N),-0.9782(T),,chr5,90119324,90119324,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val5427Met/c.16279G>A|6306|GPR98|protein_coding|CODING|NM_032119.3|76|1),non_coding_exon_variant(MODIFIER|||n.16292G>A||GPR98||CODING|NR_003149.1|76|1)",K562:H3K36me3,,RCV000039541.1,,1,0.9885,1,,,,,0.286445(N),1.000(P),"1.61,1.61(T,T)",0.0000(T),0.007,-0.013970,5.43,-9.65,-3.741000,-2.004000,-0.007000,0.002000,0.000000,0.001000,14.1189
missense_variant,GPR98,MISSENSE,NM_032119.3:p.Val5876Ile/c.17626G>A,Gtt/Att,MODERATE,COSM149886(2),0.459065,0.5665,rs2247870,,"0.016,0.178,0.009(B,B,B)",1.295(L),-0.9161(T),,chr5,90151589,90151589,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val5876Ile/c.17626G>A|6306|GPR98|protein_coding|CODING|NM_032119.3|82|1),non_coding_exon_variant(MODIFIER|||n.17639G>A||GPR98||CODING|NR_003149.1|82|1)","H1ESC:H3K36me3,K562:H3K36me3",,RCV000039547.1,,0.5215,0.6931,0.5606,,,,,0.000012(D),0.000(P),"-0.46,-0.46(T,T)",0.0000(T),0.053,1.991585,5.5,4.64,-0.216000,1.465000,2.899000,0.956000,1.000000,1.000000,11.3472
missense_variant,KIAA0825,MISSENSE,NM_001145678.1:p.Thr1177Met/c.3530C>T,aCg/aTg,MODERATE,COSM3828607(1),0.0315495,0.0685,rs72771666,0.11(T),"0.003,0.002(B,B)",-0.55(N),-1.0619(T),,chr5,93722036,93722036,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1177Met/c.3530C>T|1275|KIAA0825|protein_coding|CODING|NM_001145678.1|19|1),,,,,0.0501,0.0173,0.0249,,,,,,1.000(N),"0.93,0.93(T,T)",0.0059(T),0.041,0.672637,5.97,-3.57,-0.312000,-0.908000,-0.032000,0.495000,0.000000,0.007000,13.5506
synonymous_variant,KIAA0825,SILENT,NM_001145678.1:p.Ser1039Ser/c.3117T>C,tcT/tcC,LOW,COSM4160055(1),,,rs308207,,,,,,chr5,93731985,93731985,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1039Ser/c.3117T>C|1275|KIAA0825|protein_coding|CODING|NM_001145678.1|17|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KIAA0825,MISSENSE,NM_001145678.1:p.Ala851Thr/c.2551G>A,Gcc/Acc,MODERATE,COSM1137393(1),0.183906,0.0784,rs29910,0.89(T),0.127(B),1.04(L),-1.0208(T),,chr5,93753017,93753017,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala851Thr/c.2551G>A|1275|KIAA0825|protein_coding|CODING|NM_001145678.1|15|1),,,,,0.2699,0.1715,0.2863,,,,,0.000010(D),0.000(P),"0.79,0.79,0.78(T,T,T)",0.0000(T),0.152,1.873335,5.39,3.57,0.557000,0.608000,0.084000,0.868000,0.989000,0.994000,8.2205
missense_variant,ANKRD32,MISSENSE,NM_032290.3:p.Ser288Arg/c.864C>A,agC/agA,MODERATE,,0.234824,0.3095,rs6891545,1(T),0.0(B),-1.5(N),-1.0750(T),,chr5,93987532,93987532,C,A,het,missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser288Arg/c.864C>A|1058|ANKRD32|protein_coding|CODING|NM_032290.3|7|1),"HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2096,0.2983,0.1909,,,,,0.179005(N),1.000(P),0.98(T),0.0000(T),0.048,-5.900514,3.78,-2.65,-6.496000,-1.437000,-1.459000,0.002000,0.001000,0.008000,1.0319
synonymous_variant,MCTP1,SILENT,NM_024717.5:p.Ile905Ile/c.2715A>T,atA/atT,LOW,COSM3761378(2),0.396965,0.4345,rs2636,,,,,,chr5,94050487,94050487,T,A,het,"synonymous_variant(LOW|SILENT|atA/atT|p.Ile684Ile/c.2052A>T|778|MCTP1|protein_coding|CODING|NM_001002796.3|20|1),synonymous_variant(LOW|SILENT|atA/atT|p.Ile598Ile/c.1794A>T|692|MCTP1|protein_coding|CODING|NM_001297777.1|17|1),synonymous_variant(LOW|SILENT|atA/atT|p.Ile905Ile/c.2715A>T|999|MCTP1|protein_coding|CODING|NM_024717.5|20|1)",HeLa-S3:PolII,,,,0.5123,0.4827,0.4662,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM81B,SILENT,NM_152548.2:p.Ala122Ala/c.366G>A,gcG/gcA,LOW,,0.217652,0.1071,rs7726891,,,,,,chr5,94749723,94749723,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala122Ala/c.366G>A|452|FAM81B|protein_coding|CODING|NM_152548.2|4|1),HUVEC:H3K27me3,,,,0.1616,0.2406,0.334,,,,,,,,,,,,,,,,,,,
missense_variant,FAM81B,MISSENSE,NM_152548.2:p.Pro275Ser/c.823C>T,Cct/Tct,MODERATE,,0.9998,1,rs6878669,1(T),0.0(B),-2.135(N),-0.9879(T),,chr5,94772540,94772540,C,T,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro275Ser/c.823C>T|452|FAM81B|protein_coding|CODING|NM_152548.2|7|1),,,,,0.999,1,1,,,,,0.000014(N),1.000(P),2.59(T),0.0000(T),0.094,-0.181567,5.47,4.26,-0.269000,0.913000,1.329000,0.882000,0.889000,0.602000,7.8198
missense_variant,TTC37,MISSENSE,NM_014639.3:p.Arg1296Ser/c.3888G>T,agG/agT,MODERATE,COSM3761382(2),0.227436,0.12,rs2303650,0.48(T),0.231(B),1.04(L),-0.9940(T),,chr5,94826655,94826655,C,A,het,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg1296Ser/c.3888G>T|1564|TTC37|protein_coding|CODING|NM_014639.3|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2004,0.1787,0.165,,,,,0.000000(N),0.117(P),-1.18(T),0.0000(T),0.174,2.836743,6.04,3.23,0.561000,0.398000,1.310000,0.831000,0.999000,0.960000,5.8838
missense_variant,TTC37,MISSENSE,NM_014639.3:p.Leu437Val/c.1309C>G,Cta/Gta,MODERATE,COSM3761383(2),0.241813,0.12,rs17084873,0.17(T),"0.004,0.006(B,B)",-0.205(N),-1.0067(T),,chr5,94861118,94861118,G,C,het,missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu437Val/c.1309C>G|1564|TTC37|protein_coding|CODING|NM_014639.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2342,0.1772,0.1779,,,,,0.211579(N),1.000(P),"0.31,-0.99(T,T)",0.0000(T),0.069,0.655409,5.68,3.87,0.561000,0.727000,1.085000,0.929000,0.992000,0.760000,5.5873
missense_variant,ARSK,MISSENSE,NM_198150.2:p.Gln525Arg/c.1574A>G,cAg/cGg,MODERATE,COSM3761384(1),0.0728834,0.1081,rs17084927,0.96(T),0.0(B),-0.145(N),-0.5023(T),,chr5,94939193,94939193,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln525Arg/c.1574A>G|536|ARSK|protein_coding|CODING|NM_198150.2|8|1),IMR90:H3K36me3,,,,0.1125,0.0591,0.0567,,,,,0.755883(N),1.000(P),-4.75(D),0.0326(T),0.038,-0.828377,5.61,-2.58,0.533000,-0.355000,0.254000,0.377000,0.086000,0.000000,8.0072
synonymous_variant,RHOBTB3,SILENT,NM_014899.3:p.Ala170Ala/c.510G>A,gcG/gcA,LOW,COSM3761386(1),0.453075,0.6905,rs34896,,,,,,chr5,95084131,95084131,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala170Ala/c.510G>A|611|RHOBTB3|protein_coding|CODING|NM_014899.3|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5532,0.3343,0.4294,,,,,,,,,,,,,,,,,,,
synonymous_variant,RHOBTB3,SILENT,NM_014899.3:p.Tyr259Tyr/c.777C>T,taC/taT,LOW,COSM3761387(1),0.453674,0.6895,rs34898,,,,,,chr5,95091194,95091194,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr259Tyr/c.777C>T|611|RHOBTB3|protein_coding|CODING|NM_014899.3|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.5521,0.3329,0.4324,,,,,,,,,,,,,,,,,,,
missense_variant,RHOBTB3,MISSENSE,NM_014899.3:p.Asn262Asp/c.784A>G,Aat/Gat,MODERATE,COSM3761388(1),0.47504,0.6895,rs34899,1(T),0.0(B),-0.695(N),-0.9228(T),,chr5,95091201,95091201,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn262Asp/c.784A>G|611|RHOBTB3|protein_coding|CODING|NM_014899.3|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.5521,0.3415,0.4324,,,,,0.003075(N),0.997(P),-0.38(T),0.0000(T),0.008,-1.962568,6.08,5.21,-2.314000,0.484000,2.538000,0.000000,0.013000,1.000000,12.9585
synonymous_variant,RHOBTB3,SILENT,NM_014899.3:p.Ala307Ala/c.921T>C,gcT/gcC,LOW,,,,,,,,,,chr5,95091338,95091338,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala307Ala/c.921T>C|611|RHOBTB3|protein_coding|CODING|NM_014899.3|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,GLRX,SILENT,NM_001243659.1:p.Ile75Ile/c.225T>C,atT/atC,LOW,,0.301318,0.1716,rs4561,,,,,,chr5,95152313,95152313,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile75Ile/c.225T>C|106|GLRX|protein_coding|CODING|NM_001243659.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile75Ile/c.225T>C|106|GLRX|protein_coding|CODING|NM_001118890.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile75Ile/c.225T>C|106|GLRX|protein_coding|CODING|NM_001243658.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile75Ile/c.225T>C|106|GLRX|protein_coding|CODING|NM_002064.2|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.317,0.2752,0.4135,,,,,,,,,,,,,,,,,,,
missense_variant,PCSK1,MISSENSE,NM_000439.4:p.Ser690Thr/c.2069G>C,aGt/aCt,MODERATE,COSM3761392(1),0.24381,0.3591,rs6235,0.56(T),"0.004,0.002(B,B)",1.59(L),-1.0514(T),,chr5,95728898,95728898,C,G,het,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser690Thr/c.2069G>C|753|PCSK1|protein_coding|CODING|NM_000439.4|14|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser643Thr/c.1928G>C|706|PCSK1|protein_coding|CODING|NM_001177875.1|14|1)","NHEK:H3K36me3,IMR90:H3K27me3","Glycemic_traits_pregnancy,Proinsulin_levels",,,0.2771,0.2305,0.2594,,,,,0.001078(N),1.000(P),"-0.05,-0.2(T,T)",0.0000(T),0.034,0.967513,5.76,3.95,0.655000,2.713000,0.893000,0.308000,0.983000,0.131000,9.5219
missense_variant,PCSK1,MISSENSE,NM_000439.4:p.Gln665Glu/c.1993C>G,Cag/Gag,MODERATE,,0.259185,0.3591,rs6234,1(T),"0.0,0.0(B,B)",-0.69(N),-1.0017(T),,chr5,95728974,95728974,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln665Glu/c.1993C>G|753|PCSK1|protein_coding|CODING|NM_000439.4|14|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln618Glu/c.1852C>G|706|PCSK1|protein_coding|CODING|NM_001177875.1|14|1)","NHEK:H3K36me3,IMR90:H3K27me3",,,,0.2781,0.2349,0.2604,,,,,0.463051(N),1.000(P),"0.05,-0.11(T,T)",0.0000(T),0.027,-1.024627,5.62,-0.272,-0.815000,-0.210000,0.132000,0.016000,0.045000,0.013000,11.1807
missense_variant,CAST,MISSENSE,NM_001042440.3:p.Cys450Ser/c.1349G>C,tGt/tCt,MODERATE,COSM4003630(1),0.29373,0.1161,rs754615,0.97(T),"0.0,0.001,0.001,0.001,0.001,0.001,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B,B,B,B,B,B,B,B,B,B)",-2.305(N),-0.9539(T),,chr5,96086334,96086334,G,C,het,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys450Ser/c.1349G>C|750|CAST|protein_coding|CODING|NM_001042440.3|18|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys395Ser/c.1184G>C|695|CAST|protein_coding|CODING|NM_001190442.1|19|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys367Ser/c.1100G>C|666|CAST|protein_coding|CODING|NM_001284212.1|16|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys336Ser/c.1007G>C|636|CAST|protein_coding|CODING|NM_001284213.1|15|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys386Ser/c.1157G>C|686|CAST|protein_coding|CODING|NM_173060.3|17|1),non_coding_exon_variant(MODIFIER|||n.479G>C||CAST||CODING|NR_104285.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3415,0.2911,0.4105,,,,,0.953654(N),1.000(P),"2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5,2.5(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.195,0.283691,5.35,4.46,-0.127000,0.719000,0.989000,0.082000,0.007000,0.002000,12.6063
missense_variant,ERAP1,MISSENSE,NM_016442.3:p.Gln730Glu/c.2188C>G,Caa/Gaa,MODERATE,,0.679313,0.5714,rs27044,1(T),"0.035,0.021(B,B)",0.915(L),-0.9761(T),,chr5,96118852,96118852,G,C,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln730Glu/c.2188C>G|941|ERAP1|protein_coding|CODING|NM_001040458.1|15|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln730Glu/c.2188C>G|941|ERAP1|protein_coding|CODING|NM_001198541.1|15|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln730Glu/c.2188C>G|948|ERAP1|protein_coding|CODING|NM_016442.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7311,0.6513,0.7147,,,,,0.042071(N),1.000(P),"3.41,3.41(T,T)",0.0000(T),0.098,-1.172807,5.65,4.78,0.467000,1.379000,0.979000,0.491000,0.987000,0.156000,5.4578
synonymous_variant,ERAP1,SILENT,NM_016442.3:p.Ala637Ala/c.1911G>A,gcG/gcA,LOW,,0.557109,0.5427,rs469783,,,,,,chr5,96121524,96121524,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala637Ala/c.1911G>A|941|ERAP1|protein_coding|CODING|NM_001040458.1|13|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala637Ala/c.1911G>A|941|ERAP1|protein_coding|CODING|NM_001198541.1|13|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala637Ala/c.1911G>A|948|ERAP1|protein_coding|CODING|NM_016442.3|13|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.545,0.5403,0.5577,,,,,,,,,,,,,,,,,,,
missense_variant,ERAP1,MISSENSE,NM_016442.3:p.Lys528Arg/c.1583A>G,aAg/aGg,MODERATE,COSM4160065(1),0.596246,0.5466,rs30187,0.39(T),"0.889,0.967(P,D)",2.8(M),-1.0015(T),,chr5,96124330,96124330,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys528Arg/c.1583A>G|941|ERAP1|protein_coding|CODING|NM_001040458.1|11|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys528Arg/c.1583A>G|941|ERAP1|protein_coding|CODING|NM_001198541.1|11|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys528Arg/c.1583A>G|948|ERAP1|protein_coding|CODING|NM_016442.3|11|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Ankylosing_spondylitis,,,0.591,0.5951,0.6501,,,,,0.000000(D),0.001(P),"3.58,3.58(T,T)",0.0000(T),0.384,4.012271,6.17,6.17,0.533000,2.371000,7.362000,0.945000,1.000000,1.000000,16.4837
synonymous_variant,ERAP1,SILENT,NM_016442.3:p.Ser453Ser/c.1359T>C,agT/agC,LOW,,0.596046,0.5456,rs27529,,,,,,chr5,96126308,96126308,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser453Ser/c.1359T>C|941|ERAP1|protein_coding|CODING|NM_001040458.1|9|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser453Ser/c.1359T>C|941|ERAP1|protein_coding|CODING|NM_001198541.1|9|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser453Ser/c.1359T>C|948|ERAP1|protein_coding|CODING|NM_016442.3|9|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.591,0.5951,0.6501,,,,,,,,,,,,,,,,,,,
synonymous_variant,ERAP1,SILENT,NM_016442.3:p.Ala356Ala/c.1068T>C,gcT/gcC,LOW,,0.650759,0.5456,rs27434,,,,,,chr5,96129512,96129512,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala356Ala/c.1068T>C|941|ERAP1|protein_coding|CODING|NM_001040458.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala356Ala/c.1068T>C|941|ERAP1|protein_coding|CODING|NM_001198541.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala356Ala/c.1068T>C|948|ERAP1|protein_coding|CODING|NM_016442.3|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Ankylosing_spondylitis,,,0.6667,0.7118,0.7883,,,,,,,,,,,,,,,,,,,
missense_variant,ERAP1,MISSENSE,NM_016442.3:p.Arg127Pro/c.380G>C,cGt/cCt,MODERATE,COSM4160066(1),0.5625,0.5208,rs26653,0.4(T),"0.002,0.001(B,B)",-0.7(N),-0.9926(T),,chr5,96139250,96139250,C,G,het,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg127Pro/c.380G>C|941|ERAP1|protein_coding|CODING|NM_001040458.1|2|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg127Pro/c.380G>C|941|ERAP1|protein_coding|CODING|NM_001198541.1|2|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg127Pro/c.380G>C|948|ERAP1|protein_coding|CODING|NM_016442.3|2|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5368,0.5879,0.7177,,,,,0.574620(N),1.000(P),"4.21,4.21,1.54(T,T,T)",0.0000(T),0.127,-0.537004,5.51,3.71,-0.216000,0.292000,0.182000,0.002000,0.000000,0.000000,6.1875
missense_variant,ERAP1,MISSENSE,NM_016442.3:p.Glu56Lys/c.166G>A,Gag/Aag,MODERATE,,0.0858626,0.1716,rs3734016,0.85(T),"0.01,0.006(B,B)",-0.265(N),-0.9329(T),,chr5,96139464,96139464,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu56Lys/c.166G>A|941|ERAP1|protein_coding|CODING|NM_001040458.1|2|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu56Lys/c.166G>A|941|ERAP1|protein_coding|CODING|NM_001198541.1|2|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu56Lys/c.166G>A|948|ERAP1|protein_coding|CODING|NM_016442.3|2|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0501,0.0865,0.0408,,,,,0.035808(N),1.000(P),"3.71,3.71,3.71(T,T,T)",0.0000(T),0.079,0.188297,5.42,2.44,0.561000,1.282000,-0.070000,0.503000,0.981000,0.000000,1.2083
synonymous_variant,RIOK2,SILENT,NM_018343.2:p.Ala547Ala/c.1641C>T,gcC/gcT,LOW,COSM3765217(2),0.554313,0.5208,rs8654,,,,,,chr5,96498783,96498783,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala547Ala/c.1641C>T|552|RIOK2|protein_coding|CODING|NM_018343.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.5692,0.5845,,,,,,0.000(P),,,.,1.105780,5.7,0.19,-0.254000,-0.539000,0.119000,0.990000,0.985000,0.941000,9.4914
missense_variant,RIOK2,MISSENSE,NM_018343.2:p.Gly349Arg/c.1045G>A,Ggg/Agg,MODERATE,COSM4160069(1),0.557708,0.5208,rs160632,0.55(T),"0.0,0.0(B,B)",-1.87(N),-1.0030(T),,chr5,96503523,96503523,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly349Arg/c.1045G>A|474|RIOK2|protein_coding|CODING|NM_001159749.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly349Arg/c.1045G>A|552|RIOK2|protein_coding|CODING|NM_018343.2|8|1)","H1ESC:H3K36me3,GM12878:BATF,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:PU1,GM06990:DNase1",,,,0.6125,0.5749,0.5845,,,,,0.165098(N),1.000(P),"2.53,2.53(T,T)",0.0000(T),0.03,0.048632,5.55,-0.0325,-0.352000,-0.178000,-0.249000,0.053000,0.005000,0.000000,1.4885
missense_variant,RIOK2,MISSENSE,NM_018343.2:p.Val175Ile/c.523G>A,Gtt/Att,MODERATE,,0.00439297,0,rs35713904,0.01(D),"0.986,0.985(D,D)",2.945(M),-1.0080(T),,chr5,96508943,96508943,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val175Ile/c.523G>A|474|RIOK2|protein_coding|CODING|NM_001159749.1|5|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val175Ile/c.523G>A|552|RIOK2|protein_coding|CODING|NM_018343.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0043,0.0159,,,,,0.000000(D),1.000(D),"2.84,2.84(T,T)",0.0658(T),0.257,5.343427,5.91,5.91,0.655000,2.801000,6.968000,0.998000,1.000000,1.000000,19.8886
synonymous_variant,RIOK2,SILENT,NM_018343.2:p.Leu151Leu/c.453A>T,ctA/ctT,LOW,COSM4160071(1),0.691494,0.6429,rs2548319,,,,,,chr5,96512865,96512865,T,A,hom,"synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu151Leu/c.453A>T|474|RIOK2|protein_coding|CODING|NM_001159749.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu151Leu/c.453A>T|552|RIOK2|protein_coding|CODING|NM_018343.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6789,0.6412,0.67,,,,,,,,,,,,,,,,,,,
synonymous_variant,RIOK2,SILENT,NM_018343.2:p.Ser149Ser/c.447A>T,tcA/tcT,LOW,COSM4160072(1),0.691494,0.6429,rs2544772,,,,,,chr5,96512871,96512871,T,A,hom,"synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser149Ser/c.447A>T|474|RIOK2|protein_coding|CODING|NM_001159749.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser149Ser/c.447A>T|552|RIOK2|protein_coding|CODING|NM_018343.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6789,0.6412,0.67,,,,,,,,,,,,,,,,,,,
missense_variant,RIOK2,MISSENSE,NM_018343.2:p.Ser96Cys/c.287C>G,tCt/tGt,MODERATE,COSM3736395(1),0.341254,0.4782,rs2544773,0(D),"0.984,0.971(D,D)",3.295(M),-0.9765(T),,chr5,96513471,96513471,G,C,het,"missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser96Cys/c.287C>G|474|RIOK2|protein_coding|CODING|NM_001159749.1|3|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser96Cys/c.287C>G|552|RIOK2|protein_coding|CODING|NM_018343.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4264,0.4308,0.4095,,,,,0.000000(D),0.000(P),"3.49,3.4(T,T)",0.0000(T),0.448,4.785840,5.7,5.7,0.650000,2.683000,9.230000,0.983000,1.000000,1.000000,19.4334
synonymous_variant,RGMB,SILENT,NM_001012761.2:p.Glu59Glu/c.177G>A,gaG/gaA,LOW,COSM3761398(2),0.294928,0.2956,rs2547973,,,,,,chr5,98109828,98109828,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu59Glu/c.177G>A|478|RGMB|protein_coding|CODING|NM_001012761.2|3|1),upstream_gene_variant(MODIFIER||1040|||RGMB-AS1||NON_CODING|NR_033932.1||1)","NHEK:H3K9ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4693,0.2824,0.3012,,,,,,,,,,,,,,,,,,,
missense_variant,RGMB,MISSENSE,NM_001012761.2:p.Ser63Arg/c.187A>C,Agc/Cgc,MODERATE,COSM4160074(1),0.992412,1,rs2662263,0.64(T),0.0(B),-0.805(N),-0.9807(T),,chr5,98109838,98109838,A,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser63Arg/c.187A>C|478|RGMB|protein_coding|CODING|NM_001012761.2|3|1),upstream_gene_variant(MODIFIER||1050|||RGMB-AS1||NON_CODING|NR_033932.1||1)","NHEK:H3K9ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9908,0.9885,0.9791,,,,,,1.000(P),"-3.14,-3.15(D,D)",0.0000(T),0.137,1.287484,4.16,2.33,-0.371000,0.144000,0.380000,0.345000,0.372000,0.902000,4.3815
synonymous_variant,CHD1,SILENT,NM_001270.2:p.Glu1445Glu/c.4335G>A,gaG/gaA,LOW,COSM4003637(1),0.296326,0.0427,rs161941,,,,,,chr5,98199204,98199204,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1445Glu/c.4335G>A|1710|CHD1|protein_coding|CODING|NM_001270.2|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1851,0.2363,0.2903,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLCO6A1,SILENT,NM_001289002.1:p.Gly131Gly/c.393C>T,ggC/ggT,LOW,COSM4159338(1),0.189896,0.2748,rs6884141,,,,,,chr5,101816104,101816104,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly131Gly/c.393C>T|719|SLCO6A1|protein_coding|CODING|NM_001289002.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly131Gly/c.393C>T|657|SLCO6A1|protein_coding|CODING|NM_001289004.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly131Gly/c.393C>T|719|SLCO6A1|protein_coding|CODING|NM_173488.4|2|1)",,,,,0.274,0.2118,0.2217,,,,,,,,,,,,,,,,,,,
missense_variant,PAM,MISSENSE,NM_000919.3:p.Asp563Gly/c.1688A>G,gAt/gGt,MODERATE,COSM3760849(1),0.0133786,0,rs35658696,0.01(D),"0.949,0.891,0.949,0.819,0.949,0.949(D,P,D,P,D,D)",0.895(L),0.1833(D),,chr5,102338811,102338811,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp563Gly/c.1688A>G|974|PAM|protein_coding|CODING|NM_000919.3|16|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp563Gly/c.1688A>G|973|PAM|protein_coding|CODING|NM_001177306.1|16|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp563Gly/c.1688A>G|905|PAM|protein_coding|CODING|NM_138766.2|16|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp456Gly/c.1367A>G|866|PAM|protein_coding|CODING|NM_138821.2|15|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp563Gly/c.1688A>G|887|PAM|protein_coding|CODING|NM_138822.2|16|1),non_coding_exon_variant(MODIFIER|||n.2003A>G||PAM||CODING|NR_033440.1|15|1)",HSMM:H3K36me3,,,,0.0112,0.0187,0.0398,,,,,0.000000(D),1.000(D),"-3.19,-3.19,-3.19,-3.19,-3.19,-3.19(D,D,D,D,D,D)",0.4393(T),0.484,4.753377,5.9,5.9,0.528000,2.257000,8.192000,0.926000,1.000000,1.000000,16.3291
synonymous_variant,PAM,SILENT,NM_000919.3:p.Ile769Ile/c.2307A>C,atA/atC,LOW,,0.234824,0.4335,rs2230457,,,,,,chr5,102345546,102345546,A,C,het,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile769Ile/c.2307A>C|974|PAM|protein_coding|CODING|NM_000919.3|20|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile769Ile/c.2307A>C|973|PAM|protein_coding|CODING|NM_001177306.1|20|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile769Ile/c.2307A>C|905|PAM|protein_coding|CODING|NM_138766.2|20|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile662Ile/c.1986A>C|866|PAM|protein_coding|CODING|NM_138821.2|19|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile769Ile/c.2307A>C|887|PAM|protein_coding|CODING|NM_138822.2|20|1),non_coding_exon_variant(MODIFIER|||n.2622A>C||PAM||CODING|NR_033440.1|19|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.1585,0.2277,0.2763,,,,,,0.000(P),,,.,0.530566,5.8,0.673,-0.361000,-0.097000,0.738000,0.672000,0.966000,1.000000,1.7
missense_variant,GIN1,MISSENSE,NM_017676.2:p.Thr239Met/c.716C>T,aCg/aTg,MODERATE,COSM149894(1),0.23762,0.4494,rs34813,0.05(D),0.081(B),0.695(N),-0.9277(T),,chr5,102433409,102433409,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr239Met/c.716C>T|522|GIN1|protein_coding|CODING|NM_017676.2|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.136,0.2205,0.2813,,,,,0.875922(N),1.000(P),1.55(T),0.0000(T),0.039,-0.883355,5.66,1.24,-0.813000,0.327000,0.561000,0.000000,0.003000,0.047000,2.5043
stop_lost,PPIP5K2,MISSENSE,NM_001281471.1:p.Ter1056Cysext*?/c.3168A>C,tgA/tgC,HIGH,,0.307508,0.4454,rs26821,,,,,,chr5,102520400,102520400,A,C,het,"stop_lost(HIGH|MISSENSE|tgA/tgC|p.Ter1056Cysext*?/c.3168A>C|1277|PPIP5K2|protein_coding|CODING|NM_001281471.1|27|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg1042Arg/c.3124A>C|1243|PPIP5K2|protein_coding|CODING|NM_001276277.1|26|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg1042Arg/c.3124A>C|1222|PPIP5K2|protein_coding|CODING|NM_015216.3|25|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1339,0.2378,0.2813,,,,,,,,,,,,,,,,,,,
missense_variant,PPIP5K2,MISSENSE,NM_001276277.1:p.Ser1228Gly/c.3682A>G,Agc/Ggc,MODERATE,COSM3760851(1),0.0127796,0,rs36046591,0.43(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0488(T),,chr5,102537285,102537285,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1228Gly/c.3682A>G|1243|PPIP5K2|protein_coding|CODING|NM_001276277.1|31|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1207Gly/c.3619A>G|1222|PPIP5K2|protein_coding|CODING|NM_015216.3|29|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1262Leu/c.3786A>G|1277|PPIP5K2|protein_coding|CODING|NM_001281471.1|33|1|WARNING_TRANSCRIPT_INCOMPLETE)","NH-A:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.0102,0.0187,0.0378,,,,,0.009205(N),1.000(N),"1.37,1.37,1.37,1.37(T,T,T,T)",0.0063(T),0.132,1.218958,5.52,1.88,0.528000,0.483000,0.972000,0.707000,0.847000,0.315000,3.5097
synonymous_variant,NUDT12,SILENT,NM_031438.3:p.Leu301Leu/c.901T>C,Tta/Cta,LOW,COSM4159342(1),0.59385,0.496,rs10045774,,,,,,chr5,102891695,102891695,A,G,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu283Leu/c.847T>C|444|NUDT12|protein_coding|CODING|NM_001300741.1|4|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu301Leu/c.901T>C|462|NUDT12|protein_coding|CODING|NM_031438.3|4|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.6943,0.5331,0.6859,,,,,,,,,,,,,,,,,,,
synonymous_variant,FBXL17,SILENT,NM_001163315.2:p.Thr675Thr/c.2025C>T,acC/acT,LOW,,0.155351,0.1448,rs34990078,,,,,,chr5,107197502,107197502,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr675Thr/c.2025C>T|701|FBXL17|protein_coding|CODING|NM_001163315.2|9|1),"CD4:H3K36me3,NHEK:H3K36me3,H1ESC:Nrsf",,,,0.2127,0.111,0.2087,,,,,,,,,,,,,,,,,,,
synonymous_variant,FER,SILENT,NM_005246.2:p.Glu152Glu/c.456G>A,gaG/gaA,LOW,COSM3760860(2),0.0515176,0.004,rs55954478,,,,,,chr5,108171483,108171483,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu152Glu/c.456G>A|822|FER|protein_coding|CODING|NM_005246.2|5|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.0879,0.0548,0.0924,,,,,,,,,,,,,,,,,,,
missense_variant,PJA2,MISSENSE,NM_014819.4:p.Ala705Thr/c.2113G>A,Gca/Aca,MODERATE,,0.298922,0.5565,rs246105,0.1(T),0.0(B),0(N),-0.9977(T),,chr5,108672946,108672946,C,T,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala705Thr/c.2113G>A|708|PJA2|protein_coding|CODING|NM_014819.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3466,0.2781,0.2475,,,,,0.386738(N),1.000(P),"2.8,2.8(T,T)",0.0000(T),0.016,1.913297,5.9,0.451,0.650000,0.125000,0.041000,0.307000,0.026000,0.225000,3.7465
synonymous_variant,PJA2,SILENT,NM_014819.4:p.Glu406Glu/c.1218G>A,gaG/gaA,LOW,COSM4003251(1),0.680112,0.4355,rs10042721,,,,,,chr5,108713970,108713970,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu406Glu/c.1218G>A|708|PJA2|protein_coding|CODING|NM_014819.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6472,0.6398,0.7416,,,,,,,,,,,,,,,,,,,
synonymous_variant,PJA2,SILENT,NM_014819.4:p.Ala402Ala/c.1206A>G,gcA/gcG,LOW,COSM4159349(1),0.32508,0.0565,rs12523186,,,,,,chr5,108713982,108713982,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala402Ala/c.1206A>G|708|PJA2|protein_coding|CODING|NM_014819.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5757,0.4726,0.5915,,,,,,,,,,,,,,,,,,,
missense_variant,PJA2,MISSENSE,NM_014819.4:p.Gln297Arg/c.890A>G,cAa/cGa,MODERATE,COSM4003252(1),0.320887,0.0565,rs1045706,0.85(T),0.001(B),1.61(L),-0.9215(T),,chr5,108714298,108714298,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln297Arg/c.890A>G|708|PJA2|protein_coding|CODING|NM_014819.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5573,0.4712,0.5895,,,,,0.034535(N),1.000(P),"3.43,3.43(T,T)",0.0000(T),0.05,-1.287968,5.61,2.88,-0.274000,1.054000,0.437000,0.108000,0.961000,0.147000,1.7421
synonymous_variant,MAN2A1,SILENT,NM_002372.3:p.Arg415Arg/c.1245T>A,cgT/cgA,LOW,,0.336062,0.2609,rs386431275,,,,,,chr5,109110537,109110537,T,A,hom,synonymous_variant(LOW|SILENT|cgT/cgA|p.Arg415Arg/c.1245T>A|1144|MAN2A1|protein_coding|CODING|NM_002372.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1074,0.3314,0.3489,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAN2A1,SILENT,NM_002372.3:p.Ser939Ser/c.2817A>T,tcA/tcT,LOW,COSM3760861(1),0.746805,0.8819,rs3186988,,,,,,chr5,109181682,109181682,A,T,hom,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser939Ser/c.2817A>T|1144|MAN2A1|protein_coding|CODING|NM_002372.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6135,0.6369,0.6093,,,,,,,,,,,,,,,,,,,
synonymous_variant,CAMK4,SILENT,NM_001744.4:p.Ser337Ser/c.1011G>C,tcG/tcC,LOW,COSM3760867(1),0.733027,0.5268,rs25925,,,,,,chr5,110819753,110819753,G,C,hom,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser337Ser/c.1011G>C|473|CAMK4|protein_coding|CODING|NM_001744.4|11|1),"GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.5849,0.7233,0.7793,,,,,,,,,,,,,,,,,,,
missense_variant,EPB41L4A,MISSENSE,NM_022140.3:p.Arg630His/c.1889G>A,cGt/cAt,MODERATE,,0.856829,0.998,rs7703522,0.04(D),0.996(D),0.895(L),-0.9666(T),,chr5,111504479,111504479,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg630His/c.1889G>A|686|EPB41L4A|protein_coding|CODING|NM_022140.3|22|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8845,0.7839,0.6551,,,,,0.000066(U),0.065(P),-1.69(D),0.0000(T),0.47,2.716645,5.54,3.77,-0.229000,0.704000,3.282000,0.089000,0.728000,0.996000,10.7231
missense_variant,EPB41L4A,MISSENSE,NM_022140.3:p.Asn532Ser/c.1595A>G,aAc/aGc,MODERATE,,0.745008,0.9871,rs1560058,1(T),0.0(B),0.345(N),-0.9326(T),,chr5,111519740,111519740,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn532Ser/c.1595A>G|686|EPB41L4A|protein_coding|CODING|NM_022140.3|18|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.8405,0.7954,0.6938,,,,,0.003373(N),0.899(P),-1.52(D),0.0000(T),0.011,1.016401,6.17,3.77,0.533000,1.151000,2.186000,0.997000,1.000000,1.000000,10.7719
missense_variant,EPB41L4A,MISSENSE,NM_022140.3:p.Tyr495His/c.1483T>C,Tac/Cac,MODERATE,,0.876997,0.998,rs7719346,1(T),0.0(B),-2.255(N),-0.9468(T),,chr5,111530284,111530284,A,G,het,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr495His/c.1483T>C|686|EPB41L4A|protein_coding|CODING|NM_022140.3|17|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8988,0.8256,0.7157,,,,,0.000012(N),1.000(P),-1.49(T),0.0000(T),0.075,0.267575,5.08,5.08,-0.128000,1.386000,5.117000,0.978000,0.999000,1.000000,11.1172
missense_variant,EPB41L4A,MISSENSE,NM_022140.3:p.Ser366Thr/c.1097G>C,aGc/aCc,MODERATE,,0.761182,0.9871,rs890757,0.59(T),0.005(B),0.345(N),-0.9672(T),,chr5,111545670,111545670,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser366Thr/c.1097G>C|686|EPB41L4A|protein_coding|CODING|NM_022140.3|13|1),,,,,0.8384,0.8055,0.6928,,,,,0.000116(D),0.997(P),-1.6(D),0.0000(T),0.157,1.453922,5.87,4.08,0.655000,0.920000,0.188000,0.415000,0.610000,0.155000,10.9187
synonymous_variant,APC,SILENT,NM_000038.5:p.Tyr486Tyr/c.1458T>C,taT/taC,LOW,COSM1432175(3),0.509984,0.6647,rs2229992,,,,,,chr5,112162854,112162854,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr486Tyr/c.1458T>C|2843|APC|protein_coding|CODING|NM_000038.5|12|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr486Tyr/c.1458T>C|2843|APC|protein_coding|CODING|NM_001127510.2|13|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr468Tyr/c.1404T>C|2825|APC|protein_coding|CODING|NM_001127511.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000035064.2|RCV000074147.1|RCV000131423.1,,0.638,0.6671,0.5795,,,,,,,,,,,,,,,,,,,
synonymous_variant,APC,SILENT,NM_000038.5:p.Ala545Ala/c.1635G>A,gcG/gcA,LOW,COSM3760868(1),0.666134,0.8165,rs386583324,,,,,,chr5,112164561,112164561,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala545Ala/c.1635G>A|2843|APC|protein_coding|CODING|NM_000038.5|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala545Ala/c.1635G>A|2843|APC|protein_coding|CODING|NM_001127510.2|15|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala527Ala/c.1581G>A|2825|APC|protein_coding|CODING|NM_001127511.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000035066.2|RCV000074153.1,,0.7464,0.7161,0.5994,,,,,,,,,,,,,,,,,,,
synonymous_variant,APC,SILENT,NM_000038.5:p.Thr1493Thr/c.4479G>A,acG/acA,LOW,,0.665535,0.8165,,,,,,,chr5,112175770,112175770,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr1493Thr/c.4479G>A|2843|APC|protein_coding|CODING|NM_000038.5|16|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1493Thr/c.4479G>A|2843|APC|protein_coding|CODING|NM_001127510.2|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1475Thr/c.4425G>A|2825|APC|protein_coding|CODING|NM_001127511.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000035071.2|RCV000074234.1,,0.7423,0.7161,0.5994,,,,,,,,,,,,,,,,,,,
synonymous_variant,APC,SILENT,NM_000038.5:p.Gly1678Gly/c.5034G>A,ggG/ggA,LOW,COSM3760870(1),0.666733,0.8165,rs42427,,,,,,chr5,112176325,112176325,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1678Gly/c.5034G>A|2843|APC|protein_coding|CODING|NM_000038.5|16|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1678Gly/c.5034G>A|2843|APC|protein_coding|CODING|NM_001127510.2|17|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1660Gly/c.4980G>A|2825|APC|protein_coding|CODING|NM_001127511.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000035074.2|RCV000074235.1,,0.7423,0.7176,0.6024,,,,,,,,,,,,,,,,,,,
synonymous_variant,APC,SILENT,NM_000038.5:p.Ser1756Ser/c.5268T>G,tcT/tcG,LOW,,0.666933,0.8165,,,,,,,chr5,112176559,112176559,T,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser1756Ser/c.5268T>G|2843|APC|protein_coding|CODING|NM_000038.5|16|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser1756Ser/c.5268T>G|2843|APC|protein_coding|CODING|NM_001127510.2|17|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser1738Ser/c.5214T>G|2825|APC|protein_coding|CODING|NM_001127511.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000035076.2|RCV000074236.1,,0.7454,0.7161,0.6004,,,,,,,,,,,,,,,,,,,
missense_variant,APC,MISSENSE,NM_000038.5:p.Val1822Asp/c.5465T>A,gTc/gAc,MODERATE,COSM3760871(1),0.865415,0.9008,,,"0.0,0.0(B,B)",-0.895(N),-0.9472(T),,chr5,112176756,112176756,T,A,hom,"missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val1822Asp/c.5465T>A|2843|APC|protein_coding|CODING|NM_000038.5|16|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val1822Asp/c.5465T>A|2843|APC|protein_coding|CODING|NM_001127510.2|17|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val1804Asp/c.5411T>A|2825|APC|protein_coding|CODING|NM_001127511.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000020089.1|RCV000034393.1|RCV000035078.3|RCV000074239.1|RCV000132160.1,,0.7955,0.8184,0.7654,,,,,0.000244(N),0.981(P),"-2.3,-2.3,-2.3(D,D,D)",0.0000(T),0.147,-1.206578,6.07,3.59,-0.265000,0.139000,3.653000,0.796000,0.987000,1.000000,9.3995
synonymous_variant,APC,SILENT,NM_000038.5:p.Pro1960Pro/c.5880G>A,ccG/ccA,LOW,COSM3760872(2),0.666534,0.8165,,,,,,,chr5,112177171,112177171,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1960Pro/c.5880G>A|2843|APC|protein_coding|CODING|NM_000038.5|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1960Pro/c.5880G>A|2843|APC|protein_coding|CODING|NM_001127510.2|17|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1942Pro/c.5826G>A|2825|APC|protein_coding|CODING|NM_001127511.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000035080.2|RCV000074242.1,,0.7423,0.7161,0.5994,,,,,,,,,,,,,,,,,,,
missense_variant,DCP2,MISSENSE,NM_152624.5:p.Phe16Leu/c.46T>C,Ttc/Ctc,MODERATE,,1,1,rs33555,1(T),0.0(B),-3.22(N),-0.9623(T),,chr5,112312676,112312676,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe16Leu/c.46T>C|385|DCP2|protein_coding|CODING|NM_001242377.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe16Leu/c.46T>C|420|DCP2|protein_coding|CODING|NM_152624.5|1|1),non_coding_exon_variant(MODIFIER|||n.270T>C||DCP2||CODING|NR_038352.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:TAF1,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.000000(N),0.000(P),"1.94,1.94(T,T)",0.0000(T),0.406,4.092186,4.52,4.52,-0.215000,1.135000,4.671000,0.981000,1.000000,1.000000,12.503
synonymous_variant,DCP2,SILENT,NM_152624.5:p.Leu114Leu/c.342A>G,ctA/ctG,LOW,,0.76877,0.7629,rs3733969,,,,-1.0279(T),,chr5,112328377,112328377,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu114Leu/c.342A>G|385|DCP2|protein_coding|CODING|NM_001242377.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu114Leu/c.342A>G|420|DCP2|protein_coding|CODING|NM_152624.5|4|1),non_coding_exon_variant(MODIFIER|||n.286A>G||DCP2||CODING|NR_038352.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7464,0.7752,0.7485,,,,,,0.000(P),,0.0000(T),.,1.104063,5.61,4.73,-0.119000,0.733000,0.696000,0.991000,1.000000,1.000000,8.4799
synonymous_variant,DCP2,SILENT,NM_152624.5:p.Ala384Ala/c.1152T>C,gcT/gcC,LOW,COSM4159365(1),0.784145,0.7817,rs386621732,,,,,,chr5,112349070,112349070,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala349Ala/c.1047T>C|385|DCP2|protein_coding|CODING|NM_001242377.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala384Ala/c.1152T>C|420|DCP2|protein_coding|CODING|NM_152624.5|11|1),non_coding_exon_variant(MODIFIER|||n.1096T>C||DCP2||CODING|NR_038352.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7505,0.7824,0.7435,,,,,,0.000(P),,,.,-0.657084,5.83,-11.7,-2.095000,-3.211000,-4.637000,0.206000,0.003000,0.000000,16.1037
synonymous_variant,MCC,SILENT,NM_001085377.1:p.Ala898Ala/c.2694C>T,gcC/gcT,LOW,,,,rs2227948,,,,,,chr5,112379289,112379289,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala898Ala/c.2694C>T|1019|MCC|protein_coding|CODING|NM_001085377.1|17|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala708Ala/c.2124C>T|829|MCC|protein_coding|CODING|NM_002387.2|15|1)","NHEK:CTCF,K562:H3K27ac,K562:CTCF,HUVEC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:DNase1,K562:H3K4me2,K562:H2AZ,H1ESC:Rad21,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MCC,SILENT,NM_001085377.1:p.Asp881Asp/c.2643C>T,gaC/gaT,LOW,COSM4159367(1),0.863419,0.9405,rs386603762,,,,,,chr5,112384802,112384802,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp881Asp/c.2643C>T|1019|MCC|protein_coding|CODING|NM_001085377.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp691Asp/c.2073C>T|829|MCC|protein_coding|CODING|NM_002387.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9826,0.9539,0.9642,,,,,,,,,,,,,,,,,,,
synonymous_variant,MCC,SILENT,NM_001085377.1:p.Asn701Asn/c.2103C>T,aaC/aaT,LOW,,0.513379,0.6349,rs2227947,,,,,,chr5,112399791,112399791,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn701Asn/c.2103C>T|1019|MCC|protein_coding|CODING|NM_001085377.1|14|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn511Asn/c.1533C>T|829|MCC|protein_coding|CODING|NM_002387.2|12|1)","H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6329,0.67,0.6571,,,,,,,,,,,,,,,,,,,
missense_variant,MCC,MISSENSE,NM_001085377.1:p.Lys380Arg/c.1139A>G,aAg/aGg,MODERATE,,0.994609,1,rs6594681,0.64(T),"0.0,0.0(B,B)",0(N),-0.9630(T),,chr5,112439941,112439941,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys380Arg/c.1139A>G|1019|MCC|protein_coding|CODING|NM_001085377.1|7|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys190Arg/c.569A>G|829|MCC|protein_coding|CODING|NM_002387.2|5|1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.9986,1,,,,,0.000000(N),1.000(P),"-1.24,2.58,1.41(T,T,T)",0.0000(T),0.337,1.088625,5.26,5.26,-0.355000,1.234000,4.553000,0.907000,1.000000,1.000000,14.0892
synonymous_variant,MCC,SILENT,NM_001085377.1:p.Thr265Thr/c.795A>G,acA/acG,LOW,,0.994209,1,rs2227949,,,,,,chr5,112479004,112479004,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr265Thr/c.795A>G|1019|MCC|protein_coding|CODING|NM_001085377.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr75Thr/c.225A>G|829|MCC|protein_coding|CODING|NM_002387.2|3|1)","HUVEC:H3K36me3,NHEK:H3K36me3",,,,1,0.9986,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,MCC,SILENT,NM_002387.2:p.Ser3Ser/c.9C>T,tcC/tcT,LOW,COSM3760873(1),0.0173722,0,rs113991478,,,,,,chr5,112630074,112630074,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser3Ser/c.9C>T|829|MCC|protein_coding|CODING|NM_002387.2|1|1),intron_variant(MODIFIER|||c.627+46142C>T|1019|MCC|protein_coding|CODING|NM_001085377.1|3|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,CD4:H3K18ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,K562:H3K27me3,IMR90:H3K27ac,CD4:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0102,0.013,0.0219,,,,,,,,,,,,,,,,,,,
missense_variant,TSSK1B,MISSENSE,NM_032028.3:p.Gly293Glu/c.878G>A,gGa/gAa,MODERATE,COSM3760874(1),0.0686901,0,rs11953478,0.3(T),0.021(B),0(N),-1.1414(T),,chr5,112769659,112769659,C,T,het,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly293Glu/c.878G>A|367|TSSK1B|protein_coding|CODING|NM_032028.3|1|1),intron_variant(MODIFIER|||c.171-48750G>A|1019|MCC|protein_coding|CODING|NM_001085377.1|1|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0102,0.0346,0.0229,,,,,0.495014(U),1.000(N),-0.24(T),0.0005(T),0.026,-0.191538,1.11,1.11,0.313000,0.564000,-1.013000,0.004000,0.002000,0.000000,5.4658
synonymous_variant,TSSK1B,SILENT,NM_032028.3:p.Ala180Ala/c.540G>A,gcG/gcA,LOW,COSM3760877(1),0.13119,0.0962,rs34936289,,,,,,chr5,112769997,112769997,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala180Ala/c.540G>A|367|TSSK1B|protein_coding|CODING|NM_032028.3|1|1),intron_variant(MODIFIER|||c.171-49088G>A|1019|MCC|protein_coding|CODING|NM_001085377.1|1|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0399,0.0634,0.0467,,,,,,,,,,,,,,,,,,,
synonymous_variant,TSSK1B,SILENT,NM_032028.3:p.Thr174Thr/c.522C>A,acC/acA,LOW,COSM3760878(1),,,rs35724644,,,,,,chr5,112770015,112770015,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr174Thr/c.522C>A|367|TSSK1B|protein_coding|CODING|NM_032028.3|1|1),intron_variant(MODIFIER|||c.171-49106C>A|1019|MCC|protein_coding|CODING|NM_001085377.1|1|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TSSK1B,SILENT,NM_032028.3:p.Ala170Ala/c.510A>C,gcA/gcC,LOW,,0.0513179,0.0288,rs26980,,,,,,chr5,112770027,112770027,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala170Ala/c.510A>C|367|TSSK1B|protein_coding|CODING|NM_032028.3|1|1),intron_variant(MODIFIER|||c.171-49118A>C|1019|MCC|protein_coding|CODING|NM_001085377.1|1|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0552,0.0317,0.1243,,,,,,,,,,,,,,,,,,,
synonymous_variant,MCC,SILENT,NM_001085377.1:p.Glu38Glu/c.114G>A,gaG/gaA,LOW,COSM3760880(1),0.502995,0.6726,rs348943,,,,,,chr5,112823998,112823998,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu38Glu/c.114G>A|1019|MCC|protein_coding|CODING|NM_001085377.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,H1ESC:Yy1,IMR90:H3K27ac,HepG2:H3K4me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6074,0.4524,0.494,,,,,,,,,,,,,,,,,,,
missense_variant,MCC,MISSENSE,NM_001085377.1:p.Ser25Gly/c.73A>G,Agc/Ggc,MODERATE,COSM3760881(5),0.75599,0.8631,rs348942,0.23(T),0.0(B),,-1.0337(T),,chr5,112824039,112824039,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser25Gly/c.73A>G|1019|MCC|protein_coding|CODING|NM_001085377.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,H1ESC:Yy1,IMR90:H3K27ac,HepG2:H3K4me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8006,0.8473,0.7078,,,,,,0.001(P),1.25(T),0.0000(T),0.059,-1.438551,0.507,-1.01,0.000000,-0.201000,0.158000,0.073000,0.078000,0.996000,2.9416
synonymous_variant,YTHDC2,SILENT,NM_022828.3:p.Arg265Arg/c.793C>A,Cgg/Agg,LOW,COSM3760882(1),0.333067,0.2093,rs6594732,,,,,,chr5,112868693,112868693,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg265Arg/c.793C>A|1430|YTHDC2|protein_coding|CODING|NM_022828.3|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1677,0.4524,0.2107,,,,,,,,,,,,,,,,,,,
synonymous_variant,YTHDC2,SILENT,NM_022828.3:p.Asp820Asp/c.2460T>C,gaT/gaC,LOW,,0.0936502,0.0794,rs386605620,,,,,,chr5,112899573,112899573,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp820Asp/c.2460T>C|1430|YTHDC2|protein_coding|CODING|NM_022828.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1186,0.0908,0.1759,,,,,,,,,,,,,,,,,,,
missense_variant,YTHDC2,MISSENSE,NM_022828.3:p.Ile1027Met/c.3081T>G,atT/atG,MODERATE,,0.00199681,0,rs76945231,0.04(D),0.155(B),1.525(L),-0.9104(T),,chr5,112903383,112903383,T,G,het,missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile1027Met/c.3081T>G|1430|YTHDC2|protein_coding|CODING|NM_022828.3|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0.0089,,,,,0.084735(N),1.000(D),4.23(T),0.0062(T),0.153,3.035025,5.47,-1.69,0.533000,-0.551000,0.246000,0.997000,0.986000,0.995000,11.8011
synonymous_variant,YTHDC2,SILENT,NM_022828.3:p.Ser1281Ser/c.3843G>A,tcG/tcA,LOW,COSM3760885(1),0.130391,0.1012,rs2303718,,,,,,chr5,112926755,112926755,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1281Ser/c.3843G>A|1430|YTHDC2|protein_coding|CODING|NM_022828.3|27|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0399,0.0634,0.0497,,,,,,,,,,,,,,,,,,,
missense_variant,YTHDC2,MISSENSE,NM_022828.3:p.Leu1409Gln/c.4226T>A,cTg/cAg,MODERATE,COSM3760886(2),0.570887,0.3175,rs1132528,1(T),0.001(B),-0.915(N),-0.9485(T),,chr5,112929013,112929013,T,A,hom,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu1409Gln/c.4226T>A|1430|YTHDC2|protein_coding|CODING|NM_022828.3|29|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3589,0.5922,0.496,,,,,0.000055(N),0.000(P),1.65(T),0.0000(T),0.072,-0.008205,5.98,5.98,-0.265000,1.087000,2.386000,0.960000,1.000000,1.000000,10.6689
synonymous_variant,KCNN2,SILENT,NM_021614.3:p.Leu24Leu/c.72G>C,ctG/ctC,LOW,COSM3760887(3),0.539736,0.8512,rs40179,,,,,,chr5,113698544,113698544,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu24Leu/c.72G>C|579|KCNN2|protein_coding|CODING|NM_021614.3|1|1),5_prime_UTR_variant(MODIFIER||100245|c.-554G>C|231|KCNN2|protein_coding|CODING|NM_001278204.1|1|1)","H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,IMR90:H3K4me3",,,,0.5746,0.5346,0.4602,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNN2,SILENT,NM_021614.3:p.Glu468Glu/c.1404A>G,gaA/gaG,LOW,,0.972444,1,rs1841251,,,,,,chr5,113829121,113829121,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu120Glu/c.360A>G|231|KCNN2|protein_coding|CODING|NM_001278204.1|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu468Glu/c.1404A>G|579|KCNN2|protein_coding|CODING|NM_021614.3|7|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu120Glu/c.360A>G|231|KCNN2|protein_coding|CODING|NM_170775.2|5|1),non_coding_exon_variant(MODIFIER|||n.909A>G||KCNN2||CODING|NR_103458.1|6|1)",,,,,1,0.9942,1,,,,,,,,,,,,,,,,,,,
missense_variant,TRIM36,MISSENSE,NM_018700.3:p.Asp678Asn/c.2032G>A,Gat/Aat,MODERATE,COSM1178499(1),0.937101,0.9256,rs2974617,0.06(T),"0.0,0.001(B,B)",0(N),-1.0058(T),,chr5,114462355,114462355,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp523Asn/c.1567G>A|573|TRIM36|protein_coding|CODING|NM_001300752.1|9|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp666Asn/c.1996G>A|716|TRIM36|protein_coding|CODING|NM_001300759.1|10|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp678Asn/c.2032G>A|728|TRIM36|protein_coding|CODING|NM_018700.3|10|1)",,,,,0.9939,0.964,0.9622,,,,,0.023598(N),1.000(P),"0.23,0.23,0.23(T,T,T)",0.0000(T),0.046,1.059023,5.73,1.04,-0.254000,-0.264000,0.829000,0.715000,0.082000,0.000000,11.233
synonymous_variant,AQPEP,SILENT,NM_173800.4:p.Leu22Leu/c.64C>T,Ctg/Ttg,LOW,COSM1130961(5),0.77496,0.747,rs10062297,,,,,,chr5,115298378,115298378,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu22Leu/c.64C>T|990|AQPEP|protein_coding|CODING|NM_173800.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.6656,0.8069,0.7843,,,,,,,,,,,,,,,,,,,
missense_variant,AQPEP,MISSENSE,NM_173800.4:p.Leu54Ser/c.161T>C,tTg/tCg,MODERATE,,0.773962,0.747,rs12520255,0.87(T),0.0(B),-0.345(N),-1.0667(T),,chr5,115298475,115298475,T,C,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu54Ser/c.161T>C|990|AQPEP|protein_coding|CODING|NM_173800.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.6646,0.804,0.7823,,,,,0.256933(N),1.000(P),5.13(T),0.0000(T),0.035,-0.150843,3.78,-0.439,-0.119000,-0.232000,-0.553000,0.007000,0.000000,0.000000,3.7399
synonymous_variant,AQPEP,SILENT,NM_173800.4:p.Pro68Pro/c.204A>G,ccA/ccG,LOW,COSM448465(1),,,rs12522632,,,,,,chr5,115298518,115298518,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro68Pro/c.204A>G|990|AQPEP|protein_coding|CODING|NM_173800.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,AQPEP,SILENT,NM_173800.4:p.Phe221Phe/c.663C>T,ttC/ttT,LOW,COSM448466(1),0.389177,0.4246,rs1445708,,,,,,chr5,115298977,115298977,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe221Phe/c.663C>T|990|AQPEP|protein_coding|CODING|NM_173800.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4836,0.4265,0.3917,,,,,,,,,,,,,,,,,,,
missense_variant,AQPEP,MISSENSE,NM_173800.4:p.Leu689Phe/c.2067G>C,ttG/ttC,MODERATE,COSM1567551(1),,,rs10078759,0.16(T),0.148(B),2.035(M),-1.1109(T),,chr5,115341638,115341638,G,C,het,missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu689Phe/c.2067G>C|990|AQPEP|protein_coding|CODING|NM_173800.4|13|1),,,,,,,,,,,,0.057874(N),0.984(P),"3.04,3.04(T,T)",0.0000(T),0.447,2.354623,6.06,2.97,0.655000,0.898000,0.924000,0.997000,0.683000,0.995000,7.8749
synonymous_variant,ARL14EPL,SILENT,NM_001195581.1:p.Pro147Pro/c.441G>A,ccG/ccA,LOW,,0.676318,0.497,rs6880759,,,,,,chr5,115394626,115394626,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro147Pro/c.441G>A|152|ARL14EPL|protein_coding|CODING|NM_001195581.1|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.6636,0.5764,0.7853,,,,,,,,,,,,,,,,,,,
synonymous_variant,COMMD10,SILENT,NM_016144.2:p.Thr112Thr/c.336G>T,acG/acT,LOW,COSM149901(2),0.441893,0.3849,rs1129494,,,,,,chr5,115428334,115428334,G,T,het,synonymous_variant(LOW|SILENT|acG/acT|p.Thr112Thr/c.336G>T|202|COMMD10|protein_coding|CODING|NM_016144.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.5346,0.66,,,,,,,,,,,,,,,,,,,
synonymous_variant,COMMD10,SILENT,NM_016144.2:p.Thr136Thr/c.408C>T,acC/acT,LOW,COSM149902(2),0.432508,0.3839,rs1129496,,,,,,chr5,115469773,115469773,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr136Thr/c.408C>T|202|COMMD10|protein_coding|CODING|NM_016144.2|5|1),,,,,0.5716,0.536,0.6571,,,,,,,,,,,,,,,,,,,
missense_variant,SEMA6A,MISSENSE,NM_001300780.1:p.Tyr518His/c.1552T>C,Tat/Cat,MODERATE,,1,1,rs34966,1(T),"0.003,0.002,0.001(B,B,B)",-0.465(N),-0.9230(T),,chr5,115813726,115813726,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr518His/c.1552T>C|1047|SEMA6A|protein_coding|CODING|NM_001300780.1|14|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr518His/c.1552T>C|1030|SEMA6A|protein_coding|CODING|NM_020796.4|14|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.000004(N),0.000(P),"0.95,0.95,0.95,0.95(T,T,T,T)",0.0000(T),0.4,0.770002,5.98,5.98,-0.128000,1.551000,6.735000,0.820000,0.984000,1.000000,15.1751
synonymous_variant,DMXL1,SILENT,NM_001290321.1:p.Glu1094Glu/c.3282G>A,gaG/gaA,LOW,,0.618211,0.9524,rs7734532,,,,,,chr5,118484804,118484804,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1094Glu/c.3282G>A|3048|DMXL1|protein_coding|CODING|NM_001290321.1|18|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu921Glu/c.2763G>A|2854|DMXL1|protein_coding|CODING|NM_001290322.1|18|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1094Glu/c.3282G>A|3027|DMXL1|protein_coding|CODING|NM_005509.4|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6278,0.6268,0.4781,,,,,,,,,,,,,,,,,,,
missense_variant,DMXL1,MISSENSE,NM_001290321.1:p.Ala2358Thr/c.7072G>A,Gct/Act,MODERATE,,0.0301518,0.0109,rs79460759,0.63(T),"0.109,0.021(B,B)",1.21(L),-0.9556(T),,chr5,118513876,118513876,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala2358Thr/c.7072G>A|3048|DMXL1|protein_coding|CODING|NM_001290321.1|28|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala2185Thr/c.6553G>A|2854|DMXL1|protein_coding|CODING|NM_001290322.1|28|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala2358Thr/c.7072G>A|3027|DMXL1|protein_coding|CODING|NM_005509.4|28|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.0317,0.0606,,,,,0.000039(D),1.000(D),"2.95,2.95(T,T)",0.0031(T),0.668,1.637933,5.72,5.72,0.655000,2.717000,5.876000,0.969000,1.000000,1.000000,19.8965
synonymous_variant,TNFAIP8,SILENT,NM_001286814.1:p.His15His/c.45C>T,caC/caT,LOW,,0.147364,0.0605,rs56329027,,,,,,chr5,118669304,118669304,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His15His/c.45C>T|210|TNFAIP8|protein_coding|CODING|NM_001286814.1|1|1),intron_variant(MODIFIER|||c.2-59207C>T|188|TNFAIP8|protein_coding|CODING|NM_001077654.2|1|1),intron_variant(MODIFIER|||c.-66+17307C>T|166|TNFAIP8|protein_coding|CODING|NM_001286815.1|2|1),intron_variant(MODIFIER|||c.-66+17307C>T|166|TNFAIP8|protein_coding|CODING|NM_001286817.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,K562:H3K36me3,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM06990:H3K4me3,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HMEC:DNase1,GM12878:H3K9ac,GM12878:H3K4me2,NHEK:DNase1",,,,0.181,0.3026,0.2684,,,,,,,,,,,,,,,,,,,
synonymous_variant,TNFAIP8,SILENT,NM_001286814.1:p.Val170Val/c.510G>C,gtG/gtC,LOW,COSM3760891(1),0.269169,0.1151,rs3203922,,,,,,chr5,118728953,118728953,G,C,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val148Val/c.444G>C|188|TNFAIP8|protein_coding|CODING|NM_001077654.2|2|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val158Val/c.474G>C|198|TNFAIP8|protein_coding|CODING|NM_001286813.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val170Val/c.510G>C|210|TNFAIP8|protein_coding|CODING|NM_001286814.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val126Val/c.378G>C|166|TNFAIP8|protein_coding|CODING|NM_001286815.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val126Val/c.378G>C|166|TNFAIP8|protein_coding|CODING|NM_001286817.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val158Val/c.474G>C|198|TNFAIP8|protein_coding|CODING|NM_014350.3|2|1)","GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2495,0.2767,0.2604,,,,,,,,,,,,,,,,,,,
missense_variant,HSD17B4,MISSENSE,NM_001199291.2:p.Trp536Arg/c.1606T>C,Tgg/Cgg,MODERATE,,0.130791,0.003,rs11539471,0.44(T),"0.03,0.01,0.017,0.031,0.01(B,B,B,B,B)",0.045(N),-1.0972(T),,chr5,118860938,118860938,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp511Arg/c.1531T>C|736|HSD17B4|protein_coding|CODING|NM_000414.3|18|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp536Arg/c.1606T>C|761|HSD17B4|protein_coding|CODING|NM_001199291.2|19|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp493Arg/c.1477T>C|718|HSD17B4|protein_coding|CODING|NM_001199292.1|17|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp487Arg/c.1459T>C|712|HSD17B4|protein_coding|CODING|NM_001292027.1|19|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp371Arg/c.1111T>C|596|HSD17B4|protein_coding|CODING|NM_001292028.1|18|1)","HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0481,0.0951,0.0646,,,,,0.000000(D),0.000(P),"-1.28,-1.28,-1.28,-1.28,-1.28,-1.28,-1.28(T,T,T,T,T,T,T)",0.0000(T),0.567,3.356754,5.61,5.61,0.533000,2.266000,6.293000,0.999000,1.000000,1.000000,14.0394
missense_variant,HSD17B4,MISSENSE,NM_001199291.2:p.Ile584Val/c.1750A>G,Att/Gtt,MODERATE,COSM1130959(3),0.40016,0.4177,rs11205,0.17(T),"0.332,0.204,0.088,0.264,0.17(B,B,B,B,B)",0.885(L),-0.9825(T),,chr5,118861713,118861713,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile559Val/c.1675A>G|736|HSD17B4|protein_coding|CODING|NM_000414.3|19|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile584Val/c.1750A>G|761|HSD17B4|protein_coding|CODING|NM_001199291.2|20|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile541Val/c.1621A>G|718|HSD17B4|protein_coding|CODING|NM_001199292.1|18|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile535Val/c.1603A>G|712|HSD17B4|protein_coding|CODING|NM_001292027.1|20|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile419Val/c.1255A>G|596|HSD17B4|protein_coding|CODING|NM_001292028.1|19|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.4683,0.4125,,,,,0.000000(D),0.000(P),"-1.4,-1.4,-1.4,-1.4,-1.4,-1.4,-1.4(T,T,T,T,T,T,T)",0.0000(T),0.329,2.587740,5.39,5.39,0.482000,2.050000,3.836000,0.940000,0.999000,1.000000,14.3833
missense_variant,FAM170A,MISSENSE,NM_182761.3:p.Pro173Ser/c.517C>T,Ccc/Tcc,MODERATE,COSM1130958(3),0.44349,0.495,rs328694,,"0.998,0.999(D,D)",2.075(M),-0.9141(T),,chr5,118969960,118969960,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro126Ser/c.376C>T|282|FAM170A|protein_coding|CODING|NM_001163991.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro173Ser/c.517C>T|329|FAM170A|protein_coding|CODING|NM_182761.3|3|1)","GM06990:H3K27me3,HepG2:H3K27me3",,,,0.5552,0.3876,0.4453,,,,,0.000013(D),1.000(P),0.98(T),0.0000(T),0.022,1.318429,4.89,2.11,-0.136000,0.357000,0.813000,0.131000,0.077000,0.002000,3.7305
missense_variant,PRR16,MISSENSE,NM_001300783.1:p.Pro110Thr/c.328C>A,Ccg/Acg,MODERATE,COSM149903(1),0.091853,0.0536,rs17853861,,"0.999,0.999(D,D)",1.845(L),-1.2033(T),,chr5,120021817,120021817,C,A,het,"missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro110Thr/c.328C>A|304|PRR16|protein_coding|CODING|NM_001300783.1|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro87Thr/c.259C>A|281|PRR16|protein_coding|CODING|NM_016644.2|3|1)","HSMM:H3K36me3,IMR90:H3K36me3",,,,0.092,0.085,0.162,,,,,0.000000(D),0.000(P),"0.83,0.83,0.83,0.83,0.83(T,T,T,T,T)",0.0016(T),0.481,3.740256,5.58,5.58,0.549000,2.640000,3.306000,0.904000,0.726000,0.997000,18.3984
synonymous_variant,PRR16,SILENT,NM_001300783.1:p.Pro110Pro/c.330G>A,ccG/ccA,LOW,,0.982029,1,rs1158194,,,,,,chr5,120021819,120021819,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro110Pro/c.330G>A|304|PRR16|protein_coding|CODING|NM_001300783.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro87Pro/c.261G>A|281|PRR16|protein_coding|CODING|NM_016644.2|3|1)","HSMM:H3K36me3,IMR90:H3K36me3",,,,1,0.9957,1,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF474,MISSENSE,NM_207317.1:p.Ser274Cys/c.821C>G,tCc/tGc,MODERATE,COSM4003272(1),0.249401,0.3909,rs35262183,0.11(T),0.408(B),1.95(M),-0.9572(T),,chr5,121488506,121488506,C,G,het,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser274Cys/c.821C>G|364|ZNF474|protein_coding|CODING|NM_207317.1|2|1),"IMR90:H2BK120ac,HSMM:H3K27ac,IMR90:H2BK12ac,NH-A:DNase1,NH-A:H3K27ac,IMR90:H4K91ac,IMR90:H3K18ac",,,,0.3016,0.2406,0.2724,,,,,0.536586(U),1.000(P),0.78(T),0.0000(T),0.06,0.246830,5.29,2.52,-0.897000,0.216000,0.799000,0.002000,0.005000,0.001000,7.6208
missense_variant,LOC100505841,MISSENSE,NM_001195535.1:p.Arg113Gln/c.338G>A,cGa/cAa,MODERATE,,0.277955,0.4067,rs9112,,,,,,chr5,121518309,121518309,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg113Gln/c.338G>A|121|LOC100505841|protein_coding|CODING|NM_001195535.1|3|1),"NHEK:H3K9ac,NHEK:H3K27ac,IMR90:H2BK120ac,HMEC:H3K9ac,HSMM:H3K27ac,HSMM:H3K4me2,IMR90:H3K56ac,HUVEC:H3K9ac,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,HUVEC:FAIRE,HUVEC:H3K4me1,NHEK:H3K4me2,HUVEC:H3K27ac,HMEC:DNase1,NHEK:DNase1",,,,0.228,0.3818,0.4215,,,,,,,,,,,,,,,,,,,
synonymous_variant,CEP120,SILENT,NM_153223.3:p.Asp942Asp/c.2826T>C,gaT/gaC,LOW,COSM1432712(2),0.682708,0.5923,rs1047438,,,,,,chr5,122682348,122682348,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp916Asp/c.2748T>C|960|CEP120|protein_coding|CODING|NM_001166226.1|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp942Asp/c.2826T>C|986|CEP120|protein_coding|CODING|NM_153223.3|21|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6718,0.6729,0.7406,,,,,,,,,,,,,,,,,,,
missense_variant,CEP120,MISSENSE,NM_153223.3:p.Leu602Val/c.1804C>G,Cta/Gta,MODERATE,,0.41234,0.506,rs6595440,0.01(D),0.999(D),2.25(M),-0.9100(T),,chr5,122718736,122718736,G,C,het,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu576Val/c.1726C>G|960|CEP120|protein_coding|CODING|NM_001166226.1|12|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu602Val/c.1804C>G|986|CEP120|protein_coding|CODING|NM_153223.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4458,0.4078,0.4453,,,,,0.000094(N),0.000(P),"0.14,0.14,0.14,0.14(T,T,T,T)",0.0000(T),0.196,3.001820,5.92,1.93,-0.142000,0.058000,2.765000,0.945000,0.710000,1.000000,6.9203
synonymous_variant,CEP120,SILENT,NM_153223.3:p.His272His/c.816C>T,caC/caT,LOW,,0.461262,0.506,rs6876883,,,,,,chr5,122727026,122727026,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His246His/c.738C>T|960|CEP120|protein_coding|CODING|NM_001166226.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His272His/c.816C>T|986|CEP120|protein_coding|CODING|NM_153223.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4458,0.4207,0.4483,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF608,SILENT,NM_020747.2:p.Ala438Ala/c.1314G>A,gcG/gcA,LOW,COSM4159379(1),0.761182,0.7609,rs7708070,,,,,,chr5,123984763,123984763,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala438Ala/c.1314G>A|1512|ZNF608|protein_coding|CODING|NM_020747.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me1,GM06990:H3K36me3",,,,0.7229,0.5951,0.7505,,,,,,,,,,,,,,,,,,,
synonymous_variant,GRAMD3,SILENT,NM_001146319.1:p.Pro39Pro/c.117G>A,ccG/ccA,LOW,,0.928914,1,rs11241887,,,,,,chr5,125696140,125696140,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro39Pro/c.117G>A|447|GRAMD3|protein_coding|CODING|NM_001146319.1|1|1),"HUVEC:H3K27me3,HSMM:DNase1",,,,0.9816,0.964,0.9682,,,,,,,,,,,,,,,,,,,
missense_variant,GRAMD3,MISSENSE,NM_001146321.1:p.Glu76Lys/c.226G>A,Gag/Aag,MODERATE,,0.186102,0.1399,rs62394179,,0.005(B),,-0.9747(T),,chr5,125802027,125802027,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu76Lys/c.226G>A|440|GRAMD3|protein_coding|CODING|NM_001146321.1|3|1),splice_region_variant(LOW|||c.226G>A|440|GRAMD3|protein_coding|CODING|NM_001146321.1|3|1),intron_variant(MODIFIER|||c.248+790G>A|447|GRAMD3|protein_coding|CODING|NM_001146319.1|2|1),intron_variant(MODIFIER|||c.155+790G>A|416|GRAMD3|protein_coding|CODING|NM_001146322.1|2|1),intron_variant(MODIFIER|||c.203+790G>A|432|GRAMD3|protein_coding|CODING|NM_023927.2|2|1),intron_variant(MODIFIER|||c.3+790G>A|328|GRAMD3|protein_coding|CODING|NM_001146320.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0798,0.1772,0.2664,,,,,,1.000(P),1.46(T),0.0000(T),0.055,-0.006697,3.42,2.54,0.609000,1.027000,0.739000,0.588000,0.006000,0.224000,6.5573
synonymous_variant,MEGF10,SILENT,NM_001256545.1:p.Leu372Leu/c.1114C>T,Ctg/Ttg,LOW,,0.973442,1,rs31483,,,,,,chr5,126746277,126746277,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu372Leu/c.1114C>T|1140|MEGF10|protein_coding|CODING|NM_001256545.1|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu372Leu/c.1114C>T|1140|MEGF10|protein_coding|CODING|NM_032446.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,GM12878:H3K4me1,HepG2:H3K27me3",,,,0.9673,0.9568,0.9324,,,,,,,,,,,,,,,,,,,
synonymous_variant,MEGF10,SILENT,NM_001256545.1:p.Cys733Cys/c.2199C>T,tgC/tgT,LOW,,0.029353,0.0536,rs35591368,,,,,,chr5,126774225,126774225,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys733Cys/c.2199C>T|1140|MEGF10|protein_coding|CODING|NM_001256545.1|17|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys733Cys/c.2199C>T|1140|MEGF10|protein_coding|CODING|NM_032446.2|18|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.0143,0.0274,0.0288,,,,,,,,,,,,,,,,,,,
synonymous_variant,MEGF10,SILENT,NM_001256545.1:p.Pro1054Pro/c.3162G>A,ccG/ccA,LOW,,0.0349441,0.0536,rs17164938,,,,,,chr5,126791229,126791229,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1054Pro/c.3162G>A|1140|MEGF10|protein_coding|CODING|NM_001256545.1|24|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1054Pro/c.3162G>A|1140|MEGF10|protein_coding|CODING|NM_032446.2|25|1)",GM12878:H3K36me3,,,,0.0143,0.0288,0.0288,,,,,,,,,,,,,,,,,,,
missense_variant,MEGF10,MISSENSE,NM_001256545.1:p.Arg1072Lys/c.3215G>A,aGg/aAg,MODERATE,,0.120607,0.1002,rs17164935,1(T),0.0(B),-1.3(N),-1.0575(T),,chr5,126791282,126791282,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1072Lys/c.3215G>A|1140|MEGF10|protein_coding|CODING|NM_001256545.1|24|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1072Lys/c.3215G>A|1140|MEGF10|protein_coding|CODING|NM_032446.2|25|1)",GM12878:H3K36me3,,,,0.1513,0.0951,0.1501,,,,,0.003710(N),0.000(P),"-1.3,-1.3(T,T)",0.0006(T),0.05,0.242341,5.4,3.01,-0.254000,0.111000,3.393000,0.988000,1.000000,1.000000,9.1274
synonymous_variant,MEGF10,SILENT,NM_001256545.1:p.Gly1129Gly/c.3387T>A,ggT/ggA,LOW,COSM4003273(3),0.377995,0.3026,rs3812052,,,,,,chr5,126792974,126792974,T,A,het,"synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly1129Gly/c.3387T>A|1140|MEGF10|protein_coding|CODING|NM_001256545.1|25|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly1129Gly/c.3387T>A|1140|MEGF10|protein_coding|CODING|NM_032446.2|26|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3",,,,0.4172,0.4712,0.6372,,,,,,,,,,,,,,,,,,,
synonymous_variant,CTXN3,SILENT,NM_001048252.2:p.Val12Val/c.36G>C,gtG/gtC,LOW,,0.650958,0.6141,rs45074,,,,,,chr5,126993249,126993249,G,C,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val12Val/c.36G>C|81|CTXN3|protein_coding|CODING|NM_001048252.2|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val12Val/c.36G>C|81|CTXN3|protein_coding|CODING|NM_001127385.1|3|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.5706,0.6037,0.6551,,,,,,,,,,,,,,,,,,,
missense_variant,CTXN3,MISSENSE,NM_001048252.2:p.Glu17Val/c.50A>T,gAa/gTa,MODERATE,,0.653355,0.6141,rs248709,0.35(T),0.0(B),,-0.9811(T),,chr5,126993263,126993263,A,T,het,"missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu17Val/c.50A>T|81|CTXN3|protein_coding|CODING|NM_001048252.2|3|1),missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu17Val/c.50A>T|81|CTXN3|protein_coding|CODING|NM_001127385.1|3|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.5726,0.6037,0.6551,,,,,0.076391(N),1.000(P),"1.49,1.49(T,T)",0.0000(T),0.054,1.152390,4.52,-4.23,-0.257000,-1.231000,-0.449000,0.040000,0.000000,0.000000,5.0489
synonymous_variant,FBN2,SILENT,NM_001999.3:p.Ser2400Ser/c.7200T>C,agT/agC,LOW,,0.726637,0.8532,rs190450,,,,,,chr5,127614472,127614472,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser2400Ser/c.7200T>C|2912|FBN2|protein_coding|CODING|NM_001999.3|57|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000117030.1|RCV000125075.1,,0.7873,0.7118,0.7048,,,,,,,,,,,,,,,,,,,
missense_variant,FBN2,MISSENSE,NM_001999.3:p.Val965Ile/c.2893G>A,Gtt/Att,MODERATE,,0.73103,0.9167,rs154001,0.34(T),"0.073,0.005(B,B)",0.335(N),-0.9465(T),,chr5,127685135,127685135,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val965Ile/c.2893G>A|2912|FBN2|protein_coding|CODING|NM_001999.3|23|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:DNase1,NHEK:DNase1",,RCV000117020.1|RCV000125040.1,,0.7628,0.7565,0.67,,,,,0.000117(D),0.000(P),"-3.01,-3.01,-3.01(D,D,D)",0.0000(T),0.356,2.186853,4.19,3.32,0.655000,1.365000,3.884000,0.995000,0.989000,0.998000,13.2288
missense_variant,SLC27A6,MISSENSE,NM_001017372.1:p.Leu19Val/c.55T>G,Ttg/Gtg,MODERATE,,0.207069,0.0585,rs2526247,0.6(T),0.002(B),1.355(L),-1.0260(T),,chr5,128301885,128301885,T,G,het,"missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu19Val/c.55T>G|619|SLC27A6|protein_coding|CODING|NM_001017372.1|1|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu19Val/c.55T>G|619|SLC27A6|protein_coding|CODING|NM_014031.3|2|1)","K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.1933,0.2522,0.3668,,,,,0.850299(N),1.000(P),"0.61,0.61,0.61(T,T,T)",0.0000(T),0.035,-0.257268,4.45,-8.9,-1.023000,-3.239000,-6.036000,0.606000,0.000000,0.000000,2.4377
synonymous_variant,SLC27A6,SILENT,NM_001017372.1:p.Tyr47Tyr/c.141T>C,taT/taC,LOW,,0.203474,0.0585,rs2577541,,,,,,chr5,128301971,128301971,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr47Tyr/c.141T>C|619|SLC27A6|protein_coding|CODING|NM_001017372.1|1|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr47Tyr/c.141T>C|619|SLC27A6|protein_coding|CODING|NM_014031.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.1912,0.255,0.3678,,,,,,,,,,,,,,,,,,,
missense_variant,ADAMTS19,MISSENSE,NM_133638.3:p.Ser367Gly/c.1099A>G,Agt/Ggt,MODERATE,,0.999201,1,rs386603768,,0.0(B),-1.915(N),-0.9558(T),,chr5,128863471,128863471,A,G,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser367Gly/c.1099A>G|1207|ADAMTS19|protein_coding|CODING|NM_133638.3|5|1),,,,,0.999,0.9986,0.998,,,,,0.000002(N),1.000(P),-0.06(T),0.0000(T),0.065,0.051013,4.41,4.41,-0.213000,1.469000,4.068000,0.984000,1.000000,1.000000,11.8743
synonymous_variant,CHSY3,SILENT,NM_175856.4:p.Pro150Pro/c.450G>C,ccG/ccC,LOW,COSM3760903(3),0.45647,0.5833,rs33917,,,,,,chr5,129240972,129240972,G,C,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro150Pro/c.450G>C|882|CHSY3|protein_coding|CODING|NM_175856.4|1|1),"GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5153,0.513,0.5368,,,,,,,,,,,,,,,,,,,
missense_variant,CHSY3,MISSENSE,NM_175856.4:p.Asp764Gly/c.2291A>G,gAt/gGt,MODERATE,COSM4003281(1),0.565495,0.6647,rs2015018,,0.001(B),1.445(L),-1.0466(T),,chr5,129521126,129521126,A,G,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp764Gly/c.2291A>G|882|CHSY3|protein_coding|CODING|NM_175856.4|3|1),,,,,0.6472,0.6744,0.7565,,,,,0.339481(N),0.792(P),2.4(T),0.0000(T),0.03,-1.061795,4.09,1.72,-0.297000,0.388000,2.692000,0.029000,0.044000,1.000000,6.8301
missense_variant,RAPGEF6,MISSENSE,NM_001164386.1:p.Gln1460Arg/c.4379A>G,cAg/cGg,MODERATE,,0.899161,0.9028,rs1291602,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-2.085(N),-0.9594(T),,chr5,130766662,130766662,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1460Arg/c.4379A>G|1609|RAPGEF6|protein_coding|CODING|NM_001164386.1|27|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1465Arg/c.4394A>G|1509|RAPGEF6|protein_coding|CODING|NM_001164387.1|28|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1460Arg/c.4379A>G|1504|RAPGEF6|protein_coding|CODING|NM_001164388.1|27|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1452Arg/c.4355A>G|1601|RAPGEF6|protein_coding|CODING|NM_016340.5|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8548,0.9035,0.832,,,,,0.000013(N),0.000(P),"2.77,2.63,2.62,2.77,2.83(T,T,T,T,T)",0.0000(T),0.071,0.629893,5.22,5.22,-0.119000,1.351000,5.197000,0.840000,0.996000,1.000000,14.3421
missense_variant,FNIP1,MISSENSE,NM_133372.2:p.Gln648Arg/c.1943A>G,cAg/cGg,MODERATE,,0.867013,0.7946,rs26008,0.25(T),"0.0,0.0(B,B)",0(N),-1.0049(T),,chr5,131008194,131008194,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln620Arg/c.1859A>G|1138|FNIP1|protein_coding|CODING|NM_001008738.2|13|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln648Arg/c.1943A>G|1166|FNIP1|protein_coding|CODING|NM_133372.2|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.8661,0.8112,0.9364,,,,,,0.997(P),"2.62,2.62,2.62(T,T,T)",0.0000(T),0.022,-2.146734,5.97,-1.92,-0.119000,-1.133000,-0.115000,0.348000,0.003000,0.004000,14.7462
missense_variant,FNIP1,MISSENSE,NM_133372.2:p.Gly76Cys/c.226G>T,Ggc/Tgc,MODERATE,,0.997804,0.999,rs7730228,0.27(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-0.9736(T),,chr5,131066725,131066725,C,A,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly76Cys/c.226G>T|1138|FNIP1|protein_coding|CODING|NM_001008738.2|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly76Cys/c.226G>T|1166|FNIP1|protein_coding|CODING|NM_133372.2|3|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.999,1,0.992,,,,,,0.000(P),"0.97,0.97,0.97(T,T,T)",0.0000(T),0.238,-0.602151,5.16,5.16,-0.256000,0.916000,3.802000,0.894000,0.992000,1.000000,11.428
missense_variant,IL3,MISSENSE,NM_000588.3:p.Pro27Ser/c.79C>T,Ccc/Tcc,MODERATE,,0.419529,0.5714,rs386590298,0.81(T),0.03(B),0.695(N),-0.9371(T),,chr5,131396478,131396478,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro27Ser/c.79C>T|152|IL3|protein_coding|CODING|NM_000588.3|1|1),"GM06990:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3057,0.3156,0.2515,,,,,0.608778(N),1.000(P),1.74(T),0.0000(T),0.018,-0.949559,3.24,1.18,-0.834000,0.009000,-5.640000,0.000000,0.000000,0.000000,6.6006
missense_variant,CSF2,MISSENSE,NM_000758.3:p.Ile117Thr/c.350T>C,aTt/aCt,MODERATE,COSM3760908(1),0.34984,0.622,rs25882,0.55(T),0.004(B),0.55(N),-0.9270(T),,chr5,131411460,131411460,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile117Thr/c.350T>C|144|CSF2|protein_coding|CODING|NM_000758.3|4|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2761,0.2709,0.2465,,,,,0.065127(N),1.000(P),1.5(T),0.0000(T),0.028,1.494396,4.69,-1.53,0.482000,-0.195000,-0.458000,0.969000,0.000000,0.000000,2.6539
synonymous_variant,PDLIM4,SILENT,NM_003687.3:p.Gly85Gly/c.255T>C,ggT/ggC,LOW,,0.482228,0.3819,rs1007602,,,,,,chr5,131602166,131602166,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly85Gly/c.255T>C|246|PDLIM4|protein_coding|CODING|NM_001131027.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly85Gly/c.255T>C|330|PDLIM4|protein_coding|CODING|NM_003687.3|3|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Max,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,NH-A:H3K27ac,IMR90:H3K36me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.2975,0.513,0.6054,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDLIM4,SILENT,NM_003687.3:p.Pro197Pro/c.591A>G,ccA/ccG,LOW,,0.290136,0.4673,rs270619,,,,,,chr5,131607080,131607080,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro197Pro/c.591A>G|246|PDLIM4|protein_coding|CODING|NM_001131027.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro197Pro/c.591A>G|330|PDLIM4|protein_coding|CODING|NM_003687.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,H1ESC:CTCF",,,,0.1074,0.1023,0.1123,,,,,,,,,,,,,,,,,,,
missense_variant,PDLIM4,MISSENSE,NM_003687.3:p.Gly259Cys/c.775G>T,Ggc/Tgc,MODERATE,COSM3749899(3),0.120407,0.2837,rs4877,0.04(D),0.042(B),2.82(M),-1.0298(T),,chr5,131607588,131607588,G,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly259Cys/c.775G>T|330|PDLIM4|protein_coding|CODING|NM_003687.3|6|1),intron_variant(MODIFIER|||c.671-130G>T|246|PDLIM4|protein_coding|CODING|NM_001131027.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0634,0.0591,0.1034,,,,,0.000033(D),0.000(P),-2.34(D),0.0002(T),0.133,3.138895,5.09,5.09,0.655000,2.359000,1.953000,0.976000,1.000000,0.989000,13.8019
missense_variant,SLC22A4,MISSENSE,NM_003059.2:p.Ile306Thr/c.917T>C,aTa/aCa,MODERATE,COSM3760910(1),0.554113,0.3512,rs272893,0.06(T),0.012(B),0.925(L),-0.9824(T),,chr5,131663062,131663062,T,C,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile306Thr/c.917T>C|551|SLC22A4|protein_coding|CODING|NM_003059.2|5|1),intron_variant(MODIFIER|||n.823+4820A>G||LOC553103||NON_CODING|NR_110997.1|7|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3415,0.6816,0.5885,,,,,0.505555(N),1.000(P),-0.75(T),0.0000(T),0.034,2.410972,5.85,-1.15,0.533000,-0.412000,2.312000,0.362000,0.000000,0.031000,4.2798
synonymous_variant,SLC22A4,SILENT,NM_003059.2:p.Thr394Thr/c.1182C>G,acC/acG,LOW,COSM3760911(1),0.520168,0.3304,rs272879,,,,,,chr5,131670546,131670546,C,G,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr394Thr/c.1182C>G|551|SLC22A4|protein_coding|CODING|NM_003059.2|7|1),non_coding_exon_variant(MODIFIER|||n.633G>C||LOC553103||NON_CODING|NR_110997.1|6|1)","K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.3282,0.6729,0.5845,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A5,SILENT,NM_003060.3:p.Leu95Leu/c.285T>C,ctT/ctC,LOW,COSM4005841(2),0.486222,0.6736,rs2631365,,,,,,chr5,131705949,131705949,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu95Leu/c.285T>C|557|SLC22A5|protein_coding|CODING|NM_003060.3|1|1),upstream_gene_variant(MODIFIER||341|||LOC553103||NON_CODING|NR_110997.1||1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,RCV000080053.1,,0.6697,0.3285,0.4165,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A5,SILENT,NM_003060.3:p.Leu269Leu/c.807A>G,ctA/ctG,LOW,COSM3760912(1),0.486222,0.6736,rs274558,,,,,,chr5,131721174,131721174,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu269Leu/c.807A>G|557|SLC22A5|protein_coding|CODING|NM_003060.3|4|1),"NHEK:CTCF,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,CD4:DNase1,K562:CTCF,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,HMEC:CTCF,GM12878:EBF,NH-A:CTCF,CD4:H3K4me1,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM12878:DNase1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,"RCV000022346.2,RCV000080060.1",,0.6708,0.33,0.4145,,,,,,,,,,,,,,,,,,,
synonymous_variant,IRF1,SILENT,NM_002198.2:p.Pro185Pro/c.555A>G,ccA/ccG,LOW,,0.40655,0.3829,rs9282762,,,,,,chr5,131822055,131822055,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro185Pro/c.555A>G|325|IRF1|protein_coding|CODING|NM_002198.2|7|1),"H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4346,0.3588,0.3449,,,,,,,,,,,,,,,,,,,
missense_variant,IL13,MISSENSE,NM_002188.2:p.Gln144Arg/c.431A>G,cAg/cGg,MODERATE,,0.730032,0.6399,rs386555165,0.88(T),,,-1.0546(T),,chr5,131995964,131995964,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln144Arg/c.431A>G|146|IL13|protein_coding|CODING|NM_002188.2|4|1),"HepG2:H3K27me3,GM06990:DNase1","Self_reported_allergy,Hodgkin_s_lymphoma,IgE_levels,Psoriasis",RCV000015785.1|RCV000015786.1,,0.728,0.6196,0.7932,,,,,0.000095(N),1.000(P),1.05(T),0.0000(T),0.023,-2.297232,3.62,-7.23,-3.375000,-4.680000,-2.739000,0.000000,0.000000,0.000000,4.6575
synonymous_variant,SEPT8,SILENT,NM_001098811.1:p.Asn210Asn/c.630T>C,aaT/aaC,LOW,,0.998403,0.999,rs30510,,,,,,chr5,132098242,132098242,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn210Asn/c.630T>C|483|SEPT8|protein_coding|CODING|NM_001098811.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn210Asn/c.630T>C|442|SEPT8|protein_coding|CODING|NM_001098812.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn150Asn/c.450T>C|369|SEPT8|protein_coding|CODING|NM_001098813.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn208Asn/c.624T>C|440|SEPT8|protein_coding|CODING|NM_001300798.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn208Asn/c.624T>C|427|SEPT8|protein_coding|CODING|NM_001300799.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn210Asn/c.630T>C|429|SEPT8|protein_coding|CODING|NM_015146.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9971,0.996,,,,,,,,,,,,,,,,,,,
missense_variant,SOWAHA,MISSENSE,NM_175873.5:p.Arg124Pro/c.371G>C,cGg/cCg,MODERATE,COSM3749900(8),,,rs40274,0.28(T),0.0(B),0(N),-0.9755(T),,chr5,132149684,132149684,G,C,hom,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg124Pro/c.371G>C|549|SOWAHA|protein_coding|CODING|NM_175873.5|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,,,,,,,,0.066177(N),1.000(P),1.16(T),0.0000(T),0.064,1.188835,4.27,-0.265,-3.153000,-0.003000,-1.768000,0.001000,0.000000,0.000000,3.6102
missense_variant,SOWAHA,MISSENSE,NM_175873.5:p.Phe545Leu/c.1635T>G,ttT/ttG,MODERATE,COSM4159413(1),1,1,rs40470,1(T),0.0(B),-1.79(N),-0.9872(T),,chr5,132150948,132150948,T,G,hom,missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe545Leu/c.1635T>G|549|SOWAHA|protein_coding|CODING|NM_175873.5|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3",,,,1,1,1,,,,,0.787568(N),1.000(P),2.5(T),0.0000(T),0.092,-0.260428,5.63,1.48,-0.132000,0.161000,0.257000,0.259000,0.954000,0.549000,1.1181
synonymous_variant,GDF9,SILENT,NM_005260.4:p.Thr149Thr/c.447C>T,acC/acT,LOW,,0.455871,0.2897,rs254286,,,,,,chr5,132198199,132198199,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr61Thr/c.183C>T|366|GDF9|protein_coding|CODING|NM_001288824.2|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr61Thr/c.183C>T|366|GDF9|protein_coding|CODING|NM_001288825.2|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr61Thr/c.183C>T|366|GDF9|protein_coding|CODING|NM_001288826.2|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr61Thr/c.183C>T|366|GDF9|protein_coding|CODING|NM_001288827.2|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr61Thr/c.183C>T|366|GDF9|protein_coding|CODING|NM_001288828.2|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr149Thr/c.447C>T|454|GDF9|protein_coding|CODING|NM_005260.4|2|1)","HUVEC:H3K27me3,NH-A:H3K27me3,K562:DNase1",,,,0.6247,0.4885,0.5994,,,,,,,,,,,,,,,,,,,
synonymous_variant,HSPA4,SILENT,NM_002154.3:p.Ile706Ile/c.2118C>T,atC/atT,LOW,,0.167133,0.0913,rs1131809,,,,,,chr5,132437531,132437531,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile706Ile/c.2118C>T|840|HSPA4|protein_coding|CODING|NM_002154.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2229,0.1066,0.2316,,,,,,,,,,,,,,,,,,,
synonymous_variant,SAR1B,SILENT,NM_001033503.2:p.Leu45Leu/c.133C>T,Cta/Tta,LOW,COSM4003284(1),0.167931,0.3135,rs11558540,,,,,,chr5,133956668,133956668,G,A,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu45Leu/c.133C>T|198|SAR1B|protein_coding|CODING|NM_001033503.2|4|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu45Leu/c.133C>T|198|SAR1B|protein_coding|CODING|NM_016103.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.0663,0.1034,,,,,,,,,,,,,,,,,,,
synonymous_variant,CATSPER3,SILENT,NM_178019.2:p.Ala215Ala/c.645A>G,gcA/gcG,LOW,COSM4003285(3),0.508986,0.5615,rs177252,,,,,,chr5,134343799,134343799,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala215Ala/c.645A>G|398|CATSPER3|protein_coding|CODING|NM_178019.2|4|1),IMR90:H3K36me3,,,,0.5429,0.4078,0.3191,,,,,,,,,,,,,,,,,,,
missense_variant,PITX1,MISSENSE,NM_002653.4:p.Gly299Ala/c.896G>C,gGc/gCc,MODERATE,COSM3760918(2),0.319888,0.4762,rs479632,0.69(T),0.06(B),-0.405(N),-1.0456(T),,chr5,134364518,134364518,C,G,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly299Ala/c.896G>C|314|PITX1|protein_coding|CODING|NM_002653.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.456,0.3271,0.2704,,,,,0.001017(N),0.000(P),"-2.45,-2.45(D,D)",0.0000(T),0.089,1.482622,4.32,4.32,0.462000,1.954000,7.423000,0.800000,1.000000,1.000000,15.7942
missense_variant,C5orf66,MISSENSE,NM_001277348.1:p.Ala49Thr/c.145G>A,Gca/Aca,MODERATE,,0.0327476,0,rs386618036,0(D),,,-1.0266(T),,chr5,134678863,134678863,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala49Thr/c.145G>A|145|C5orf66|protein_coding|CODING|NM_001277348.1|6|1),intron_variant(MODIFIER|||c.950+87C>T|371|H2AFY|protein_coding|CODING|NM_001040158.1|8|1),intron_variant(MODIFIER|||c.950+87C>T|371|H2AFY|protein_coding|CODING|NM_004893.2|8|1),intron_variant(MODIFIER|||c.944+87C>T|369|H2AFY|protein_coding|CODING|NM_138609.2|8|1),intron_variant(MODIFIER|||c.953+87C>T|372|H2AFY|protein_coding|CODING|NM_138610.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0573,0.0418,0.0706,,,,,,1.000(N),,0.0090(T),0.04,1.432463,3.19,-2.13,-1.036000,-0.559000,-0.295000,0.010000,0.000000,0.000000,4.2699
synonymous_variant,SLC25A48,SILENT,NM_145282.4:p.Val22Val/c.66T>C,gtT/gtC,LOW,,0.743011,0.7123,rs2304075,,,,,,chr5,135178124,135178124,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val22Val/c.66T>C|157|SLC25A48|protein_coding|CODING|NM_145282.4|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.7556,0.6628,0.831,,,,,,,,,,,,,,,,,,,
missense_variant,FBXL21,MISSENSE,NM_012159.4:p.Pro209Leu/c.626C>T,cCa/cTa,MODERATE,,0.813698,0.7808,rs40986,,,,,,chr5,135276314,135276314,C,T,hom,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro209Leu/c.626C>T|434|FBXL21|protein_coding|CODING|NM_012159.4|7|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.816,0.7968,0.7197,,,,,,,,,,,,,,,,,,,
synonymous_variant,FBXL21,SILENT,NM_012159.4:p.Asp264Asp/c.792T>C,gaT/gaC,LOW,,0.734425,0.7827,rs31547,,,,,,chr5,135276847,135276847,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp264Asp/c.792T>C|434|FBXL21|protein_coding|CODING|NM_012159.4|8|1),"HUVEC:H3K27me3,HepG2:H3K36me3",,,,0.8139,0.7637,0.7078,,,,,,,,,,,,,,,,,,,
missense_variant,LECT2,MISSENSE,NM_002302.2:p.Ile58Val/c.172A>G,Atc/Gtc,MODERATE,COSM1130934(4),0.636382,0.6478,rs31517,1(T),0.001(B),-0.63(N),-0.9043(T),,chr5,135287029,135287029,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile58Val/c.172A>G|151|LECT2|protein_coding|CODING|NM_002302.2|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.6963,0.696,0.6412,,,,,0.001660(N),0.000(P),"0.61,0.61,0.61(T,T,T)",0.0000(T),0.061,0.413265,6.07,3.33,-1.820000,-0.028000,0.461000,0.177000,0.459000,0.257000,12.6058
synonymous_variant,TGFBI,SILENT,NM_000358.2:p.Leu217Leu/c.651G>C,ctG/ctC,LOW,COSM4003288(1),0.317692,0.369,rs1442,,,,,,chr5,135382989,135382989,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu217Leu/c.651G>C|683|TGFBI|protein_coding|CODING|NM_000358.2|6|1),"GM06990:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4049,0.4481,0.4732,,,,,,,,,,,,,,,,,,,
synonymous_variant,TGFBI,SILENT,NM_000358.2:p.Val327Val/c.981A>G,gtA/gtG,LOW,COSM4159427(1),0.387181,0.3433,rs1054124,,,,-0.9021(T),,chr5,135388663,135388663,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val327Val/c.981A>G|683|TGFBI|protein_coding|CODING|NM_000358.2|8|1),"NH-A:H3K4me1,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,IMR90:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac",,,,0.3681,0.3631,0.2594,,,,,,0.000(P),,0.0000(T),.,0.312930,5.65,5.65,-0.119000,1.532000,5.704000,0.302000,0.987000,1.000000,15.1618
synonymous_variant,TGFBI,SILENT,NM_000358.2:p.Leu472Leu/c.1416C>T,ctC/ctT,LOW,,0.280152,0.247,rs1133170,,,,,,chr5,135391374,135391374,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu472Leu/c.1416C>T|683|TGFBI|protein_coding|CODING|NM_000358.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3579,0.2133,0.2565,,,,,,,,,,,,,,,,,,,
synonymous_variant,TGFBI,SILENT,NM_000358.2:p.Phe540Phe/c.1620T>C,ttT/ttC,LOW,,0.420527,0.3433,rs4669,,,,-1.0041(T),,chr5,135392426,135392426,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe540Phe/c.1620T>C|683|TGFBI|protein_coding|CODING|NM_000358.2|12|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3671,0.3703,0.2584,,,,,,0.000(P),,0.0000(T),.,1.137809,5.82,-2.69,-1.551000,-1.131000,-0.359000,0.823000,0.868000,0.441000,14.5145
synonymous_variant,KLHL3,SILENT,NM_017415.2:p.Ala157Ala/c.471A>G,gcA/gcG,LOW,COSM3760929(2),0.828075,0.9821,rs2905608,0(D),,,-0.9441(T),,chr5,137028029,137028029,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala125Ala/c.375A>G|555|KLHL3|protein_coding|CODING|NM_001257194.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala75Ala/c.225A>G|505|KLHL3|protein_coding|CODING|NM_001257195.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala157Ala/c.471A>G|587|KLHL3|protein_coding|CODING|NM_017415.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.8108,0.7522,0.7555,,,,,,0.000(P),0.23(T),0.0000(T),.,1.765199,4.74,-9.49,-2.852000,-3.891000,-3.781000,0.626000,0.017000,0.000000,0.3813
missense_variant,MYOT,MISSENSE,NM_006790.2:p.Lys74Gln/c.220A>C,Aag/Cag,MODERATE,,,,rs6890689,0.38(T),0.0(B),-0.205(N),-0.9645(T),,chr5,137206560,137206560,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys74Gln/c.220A>C|498|MYOT|protein_coding|CODING|NM_006790.2|2|1),splice_region_variant(LOW|||c.1A>C|383|MYOT|protein_coding|CODING|NM_001300911.1|2|1),intron_variant(MODIFIER|||c.-120-6A>C|383|MYOT|protein_coding|CODING|NM_001300911.1|2|1),intron_variant(MODIFIER|||c.-197+346A>C|314|MYOT|protein_coding|CODING|NM_001135940.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000022(N),0.000(P),-0.21(T),0.0000(T),0.257,-0.724041,5.76,5.76,-0.366000,1.457000,2.809000,0.141000,0.995000,0.988000,14.7766
missense_variant,PKD2L2,MISSENSE,NM_001300921.1:p.Val404Ile/c.1210G>A,Gtt/Att,MODERATE,,0.787939,0.9702,rs1880458,0.39(T),"0.001,0.0(B,B)",-0.345(N),-1.0031(T),,chr5,137244517,137244517,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val382Ile/c.1144G>A|602|PKD2L2|protein_coding|CODING|NM_001258448.1|8|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val404Ile/c.1210G>A|624|PKD2L2|protein_coding|CODING|NM_001300921.1|8|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val404Ile/c.1210G>A|613|PKD2L2|protein_coding|CODING|NM_014386.3|8|1),intron_variant(MODIFIER|||c.1146+916G>A|523|PKD2L2|protein_coding|CODING|NM_001258449.1|7|1)",,,,,0.9039,0.7752,0.7575,,,,,0.107811(N),0.000(P),"-0.48,-0.48,-0.48,-0.48(T,T,T,T)",0.0000(T),0.023,1.982601,5.82,3.47,-0.361000,0.470000,4.450000,0.605000,1.000000,1.000000,3.7733
missense_variant,PKD2L2,MISSENSE,NM_001300921.1:p.Leu507Pro/c.1520T>C,cTa/cCa,MODERATE,,0.977037,1,rs12187140,0.61(T),"0.0,0.0,0.0(B,B,B)",-1.935(N),-0.9491(T),,chr5,137259179,137259179,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu485Pro/c.1454T>C|602|PKD2L2|protein_coding|CODING|NM_001258448.1|10|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu406Pro/c.1217T>C|523|PKD2L2|protein_coding|CODING|NM_001258449.1|8|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu507Pro/c.1520T>C|624|PKD2L2|protein_coding|CODING|NM_001300921.1|10|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu507Pro/c.1520T>C|613|PKD2L2|protein_coding|CODING|NM_014386.3|10|1)",,,,,1,0.9942,1,,,,,0.002444(N),0.376(P),"-0.28,0.41,-0.65,-0.2,-0.18(T,T,T,T,T)",0.0000(T),0.155,-0.228994,5.4,4.53,-0.119000,0.678000,1.118000,0.744000,0.985000,0.113000,4.2037
missense_variant,FAM13B,MISSENSE,NM_016603.2:p.Met802Val/c.2404A>G,Atg/Gtg,MODERATE,,0.0279553,0,rs33956817,0.53(T),"0.0,0.0,0.0(B,B,B)",0.345(N),-0.9909(T),,chr5,137278682,137278682,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met774Val/c.2320A>G|887|FAM13B|protein_coding|CODING|NM_001101800.1|20|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met678Val/c.2032A>G|791|FAM13B|protein_coding|CODING|NM_001101801.1|20|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met802Val/c.2404A>G|915|FAM13B|protein_coding|CODING|NM_016603.2|21|1),downstream_gene_variant(MODIFIER||248||624|PKD2L2|protein_coding|CODING|NM_001300921.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.0418,0.0487,,,,,0.035084(N),0.999(N),"3.18,2.02,3.13(T,T,T)",0.0033(T),0.029,0.731049,6.07,3.66,0.533000,1.072000,1.931000,0.993000,1.000000,1.000000,7.4229
synonymous_variant,FAM13B,SILENT,NM_016603.2:p.Ser169Ser/c.507C>T,tcC/tcT,LOW,,0.98722,1,rs10064910,,,,,,chr5,137347498,137347498,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser169Ser/c.507C>T|887|FAM13B|protein_coding|CODING|NM_001101800.1|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser51Ser/c.153C>T|791|FAM13B|protein_coding|CODING|NM_001101801.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser169Ser/c.507C>T|915|FAM13B|protein_coding|CODING|NM_016603.2|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,WNT8A,SILENT,NM_001300938.1:p.Ala265Ala/c.795G>A,gcG/gcA,LOW,COSM3760930(1),0.469649,0.5843,rs6596422,,,,,,chr5,137426447,137426447,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala265Ala/c.795G>A|386|WNT8A|protein_coding|CODING|NM_001300938.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala265Ala/c.795G>A|369|WNT8A|protein_coding|CODING|NM_001300939.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala247Ala/c.741G>A|351|WNT8A|protein_coding|CODING|NM_058244.3|6|1),non_coding_exon_variant(MODIFIER|||n.939G>A||WNT8A||CODING|NR_125351.1|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.5562,0.4337,0.494,,,,,,,,,,,,,,,,,,,
missense_variant,BRD8,MISSENSE,NM_139199.1:p.Gln1198Arg/c.3593A>G,cAa/cGa,MODERATE,,0.977236,1,rs412051,1(T),0.0(B),-0.55(N),-0.9647(T),,chr5,137476416,137476416,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln1198Arg/c.3593A>G|1235|BRD8|protein_coding|CODING|NM_139199.1|26|1),upstream_gene_variant(MODIFIER||1284||212|NME5|protein_coding|CODING|NM_003551.2||1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,1,0.9928,1,,,,,0.748228(N),0.000(P),"2.22,2.22(T,T)",0.0000(T),0.113,0.179286,5.96,1.75,-0.699000,0.156000,1.779000,0.947000,0.998000,0.903000,11.4013
missense_variant,CDC25C,MISSENSE,NM_001287583.1:p.Arg148Cys/c.442C>T,Cgt/Tgt,MODERATE,COSM3736367(2),0.390176,0.6101,rs3734166,0.19(T),"0.002,0.001,0.001,0.001(B,B,B,B)",-0.235(N),-0.9442(T),,chr5,137665323,137665323,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg70Cys/c.208C>T|473|CDC25C|protein_coding|CODING|NM_001287582.1|3|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg148Cys/c.442C>T|551|CDC25C|protein_coding|CODING|NM_001287583.1|3|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg70Cys/c.208C>T|473|CDC25C|protein_coding|CODING|NM_001790.4|3|1),intron_variant(MODIFIER|||c.195-1105C>T|400|CDC25C|protein_coding|CODING|NM_022809.3|2|1)",,,,,0.1963,0.2983,0.3072,,,,,0.137526(N),0.000(P),"1.64,1.64,1.64,1.64,1.64,1.64(T,T,T,T,T,T)",0.0000(T),0.24,1.973598,4.4,-0.963,0.563000,-0.138000,-0.842000,0.961000,0.993000,0.513000,7.8092
missense_variant,KDM3B,MISSENSE,NM_016604.3:p.Ala5Thr/c.13G>A,Gcg/Acg,MODERATE,,0.00878594,0,rs200772506,0.18(T),0.624(P),0.55(N),-0.6129(T),,chr5,137688497,137688497,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala5Thr/c.13G>A|1761|KDM3B|protein_coding|CODING|NM_016604.3|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.0123,0.0058,0.0258,,,,,0.009347(N),0.000(P),-0.04(T),0.1844(T),0.389,4.816754,3.81,3.81,0.491000,1.838000,3.244000,0.987000,0.998000,1.000000,13.7821
synonymous_variant,KDM3B,SILENT,NM_016604.3:p.Ile88Ile/c.264C>T,atC/atT,LOW,,0.67492,0.8482,rs4835678,,,,,,chr5,137708434,137708434,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile88Ile/c.264C>T|1761|KDM3B|protein_coding|CODING|NM_016604.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.6715,0.5934,,,,,,,,,,,,,,,,,,,
missense_variant,KDM3B,MISSENSE,NM_016604.3:p.Ala256Thr/c.766G>A,Gcg/Acg,MODERATE,,0.978435,1,rs6865472,0.58(T),0.0(B),0.345(N),-1.0163(T),,chr5,137717265,137717265,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala256Thr/c.766G>A|1761|KDM3B|protein_coding|CODING|NM_016604.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,,,,,0.784948(N),1.000(P),0.15(T),0.0000(T),0.151,0.531183,4.79,-2.75,-0.360000,-0.739000,-0.674000,0.066000,0.000000,0.000000,5.5064
synonymous_variant,KDM3B,SILENT,NM_016604.3:p.Gly1163Gly/c.3489T>C,ggT/ggC,LOW,COSM448654(2),0.678115,0.8532,rs7726234,,,,,,chr5,137754695,137754695,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1163Gly/c.3489T>C|1761|KDM3B|protein_coding|CODING|NM_016604.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7393,0.6715,0.5924,,,,,,,,,,,,,,,,,,,
synonymous_variant,HSPA9,SILENT,NM_004134.6:p.Leu645Leu/c.1933C>T,Ctg/Ttg,LOW,COSM3760932(2),0.645767,0.7907,rs10117,,,,,,chr5,137892170,137892170,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu645Leu/c.1933C>T|679|HSPA9|protein_coding|CODING|NM_004134.6|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.3761,0.4364,,,,,,,,,,,,,,,,,,,
synonymous_variant,HSPA9,SILENT,NM_004134.6:p.Lys316Lys/c.948A>G,aaA/aaG,LOW,COSM3760933(1),0.419928,0.7629,rs1042665,,,,,,chr5,137902339,137902339,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys316Lys/c.948A>G|679|HSPA9|protein_coding|CODING|NM_004134.6|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4652,0.2464,0.2485,,,,,,,,,,,,,,,,,,,
synonymous_variant,CTNNA1,SILENT,NM_001903.3:p.Ser740Ser/c.2220G>A,tcG/tcA,LOW,COSM3760934(1),0.249002,0.0079,rs1059110,,,,,,chr5,138266546,138266546,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser740Ser/c.2220G>A|841|CTNNA1|protein_coding|CODING|NM_001290307.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser637Ser/c.1911G>A|803|CTNNA1|protein_coding|CODING|NM_001290309.1|15|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser617Ser/c.1851G>A|783|CTNNA1|protein_coding|CODING|NM_001290310.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser370Ser/c.1110G>A|536|CTNNA1|protein_coding|CODING|NM_001290312.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser740Ser/c.2220G>A|906|CTNNA1|protein_coding|CODING|NM_001903.3|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2209,0.2695,0.2714,,,,,,,,,,,,,,,,,,,
synonymous_variant,SIL1,SILENT,NM_001037633.1:p.Thr51Thr/c.153A>G,acA/acG,LOW,,0.426917,0.1815,rs3088052,,,,,,chr5,138456815,138456815,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr51Thr/c.153A>G|461|SIL1|protein_coding|CODING|NM_001037633.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr51Thr/c.153A>G|461|SIL1|protein_coding|CODING|NM_022464.4|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082151.3,,0.3425,0.4366,0.4076,,,,,,,,,,,,,,,,,,,
missense_variant,SLC23A1,MISSENSE,NM_152685.3:p.Ser425Ala/c.1273T>G,Tcc/Gcc,MODERATE,,0.999002,1,rs6596474,1(T),"0.0,0.0(B,B)",-2.05(N),-0.9398(T),,chr5,138713959,138713959,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser421Ala/c.1261T>G|598|SLC23A1|protein_coding|CODING|NM_005847.4|11|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser425Ala/c.1273T>G|602|SLC23A1|protein_coding|CODING|NM_152685.3|11|1)","H1ESC:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.000000(N),0.992(P),"2.21,2.21(T,T)",0.0000(T),0.276,1.427491,5.3,5.3,-0.217000,1.491000,5.610000,0.814000,0.932000,1.000000,15.3144
missense_variant,PROB1,MISSENSE,NM_001161546.1:p.Val763Ala/c.2288T>C,gTa/gCa,MODERATE,COSM3760937(4),0.974042,0.9732,rs10078623,1(T),0.0(B),-1.1(N),-0.9838(T),,chr5,138728483,138728483,A,G,hom,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val763Ala/c.2288T>C|1015|PROB1|protein_coding|CODING|NM_001161546.1|1|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,GM12878:ELF1,GM12878:Yy1,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,CD4:CTCF,GM12878:Rad21,IMR90:H3K27me3,HeLa-S3:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.9949,0.9914,1,,,,,,1.000(P),,0.0000(T),0.029,-2.187601,4.17,1.23,-0.215000,-0.094000,0.016000,0.012000,0.000000,0.000000,7.3794
synonymous_variant,SPATA24,SILENT,NM_194296.1:p.Glu176Glu/c.528G>A,gaG/gaA,LOW,COSM1433471(1),0.388778,0.3135,rs10900862,,,,-0.9073(T),,chr5,138732579,138732579,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu176Glu/c.528G>A|205|SPATA24|protein_coding|CODING|NM_194296.1|6|1),upstream_gene_variant(MODIFIER||1694||1015|PROB1|protein_coding|CODING|NM_001161546.1||1)","GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,H1ESC:Yy1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5031,0.5994,0.6223,,,,,,0.000(P),,0.0000(T),.,3.787128,5.66,5.66,0.655000,2.672000,3.854000,0.998000,1.000000,1.000000,15.2367
synonymous_variant,DNAJC18,SILENT,NM_152686.3:p.Tyr66Tyr/c.198T>C,taT/taC,LOW,COSM4003297(1),0.409944,0.3105,rs10900864,,,,,,chr5,138773090,138773090,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr66Tyr/c.198T>C|358|DNAJC18|protein_coding|CODING|NM_152686.3|2|1),"GM12878:Pax5,GM12878:BATF,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,GM12878:Yy1,IMR90:H3K36me3,GM12878:IRF4,GM12878:BCL11A,GM12878:DNase1,GM06990:DNase1,GM12878:Tcf12",,,,0.5102,0.6138,0.6491,,,,,,,,,,,,,,,,,,,
missense_variant,TMEM173,MISSENSE,NM_198282.2:p.His232Arg/c.695A>G,cAt/cGt,MODERATE,,0.872804,0.8581,rs1131769,1(T),0.0(B),-2.36(N),-0.9865(T),,chr5,138857919,138857919,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His232Arg/c.695A>G|379|TMEM173|protein_coding|CODING|NM_198282.2|6|1),"K562:H3K27ac,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.9039,0.8501,0.8519,,,,,0.000125(N),1.000(P),"2.72,2.72(T,T)",0.0000(T),0.111,-1.187358,5.79,4.92,-0.215000,0.814000,2.119000,0.061000,0.997000,0.986000,10.1271
synonymous_variant,TMEM173,SILENT,NM_198282.2:p.Val48Val/c.144G>C,gtG/gtC,LOW,COSM4003298(2),0.428514,0.375,rs7447927,,,,,,chr5,138861146,138861146,C,G,hom,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val48Val/c.144G>C|379|TMEM173|protein_coding|CODING|NM_198282.2|3|1),"CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HSMM:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,HMEC:H3K4me2,HSMM:H3K9ac,IMR90:H3K36me3,IMR90:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,CD4:H3K4ac,HMEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,CD4:H3K9ac,K562:H3K4me2,HSMM:H3K79me2,IMR90:H3K4me3",,,,0.637,0.5058,0.6859,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A9,SILENT,NM_001258428.1:p.Ile591Ile/c.1773T>C,atT/atC,LOW,COSM4159443(1),0.709465,0.8353,rs6860077,,,,,,chr5,139745154,139745154,T,C,hom,"splice_region_variant(LOW|||c.1668T>C|945|SLC4A9|protein_coding|CODING|NM_001258426.1|12|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile556Ile/c.1668T>C|945|SLC4A9|protein_coding|CODING|NM_001258426.1|12|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile567Ile/c.1701T>C|896|SLC4A9|protein_coding|CODING|NM_001258427.1|12|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile591Ile/c.1773T>C|983|SLC4A9|protein_coding|CODING|NM_001258428.1|12|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile567Ile/c.1701T>C|959|SLC4A9|protein_coding|CODING|NM_031467.2|12|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7382,0.7493,0.7177,,,,,,,,,,,,,,,,,,,
stop_gained,SRA1,NONSENSE,NM_001253764.1:p.Ser93*/c.278C>A,tCg/tAg,HIGH,COSM4005852(2),0.631989,0.8254,rs250426,,,,,SRA1:0.25(4);SRA1:0.25(4);,chr5,139936760,139936760,G,T,hom,"stop_gained(HIGH|NONSENSE|tCg/tAg|p.Ser93*/c.278C>A|208|SRA1|protein_coding|CODING|NM_001253764.1|1|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val53Val/c.159C>A|236|SRA1|protein_coding|CODING|NM_001035235.3|2|1),downstream_gene_variant(MODIFIER||1093||493|APBB3|protein_coding|CODING|NM_006051.3||1),downstream_gene_variant(MODIFIER||1093||491|APBB3|protein_coding|CODING|NM_133172.2||1),downstream_gene_variant(MODIFIER||1093||486|APBB3|protein_coding|CODING|NM_133173.2||1),downstream_gene_variant(MODIFIER||1093||484|APBB3|protein_coding|CODING|NM_133174.2||1),non_coding_exon_variant(MODIFIER|||n.824C>A||SRA1||CODING|NR_045586.1|2|1),non_coding_exon_variant(MODIFIER|||n.282C>A||SRA1||CODING|NR_045587.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.7393,0.7248,0.7167,,,,,,,,,,,,,,,,,,,
missense_variant,SRA1,MISSENSE,NM_001253764.1:p.Cys20Arg/c.58T>C,Tgt/Cgt,MODERATE,,0.709065,0.8254,rs250427,,,,,,chr5,139936980,139936980,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys20Arg/c.58T>C|208|SRA1|protein_coding|CODING|NM_001253764.1|1|1),downstream_gene_variant(MODIFIER||873||493|APBB3|protein_coding|CODING|NM_006051.3||1),downstream_gene_variant(MODIFIER||873||491|APBB3|protein_coding|CODING|NM_133172.2||1),downstream_gene_variant(MODIFIER||873||486|APBB3|protein_coding|CODING|NM_133173.2||1),downstream_gene_variant(MODIFIER||873||484|APBB3|protein_coding|CODING|NM_133174.2||1),intron_variant(MODIFIER|||c.61+33T>C|236|SRA1|protein_coding|CODING|NM_001035235.3|1|1),intron_variant(MODIFIER|||n.666+33T>C||SRA1||CODING|NR_045586.1|1|1),non_coding_exon_variant(MODIFIER|||n.62T>C||SRA1||CODING|NR_045587.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,K562:H3K36me3,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:SP1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:PU1,HepG2:Yy1,CD4:H3K9ac,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.7393,0.7493,0.7187,,,,,,,,,,,,,,,,,,,
synonymous_variant,APBB3,SILENT,NM_006051.3:p.His348His/c.1044C>T,caC/caT,LOW,,0.63139,0.8254,rs250431,,,,,,chr5,139940233,139940233,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His348His/c.1044C>T|493|APBB3|protein_coding|CODING|NM_006051.3|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His346His/c.1038C>T|491|APBB3|protein_coding|CODING|NM_133172.2|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His341His/c.1023C>T|486|APBB3|protein_coding|CODING|NM_133173.2|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His339His/c.1017C>T|484|APBB3|protein_coding|CODING|NM_133174.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7393,0.7248,0.7137,,,,,,,,,,,,,,,,,,,
missense_variant,APBB3,MISSENSE,NM_006051.3:p.Cys238Arg/c.712T>C,Tgc/Cgc,MODERATE,,0.905751,0.8998,rs250430,,"0.0,0.0,0.0(B,B,B)",-2.495(N),-0.9616(T),,chr5,139941228,139941228,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys229Arg/c.685T>C|484|APBB3|protein_coding|CODING|NM_133174.2|7|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys231Arg/c.691T>C|486|APBB3|protein_coding|CODING|NM_133173.2|7|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys236Arg/c.706T>C|491|APBB3|protein_coding|CODING|NM_133172.2|7|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys238Arg/c.712T>C|493|APBB3|protein_coding|CODING|NM_006051.3|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8937,0.8775,0.8807,,,,,0.000019(N),0.134(P),"2.05,2.05,2.05,2.05,2.05,2.05,2.05(T,T,T,T,T,T,T)",0.0000(T),0.128,-0.138410,5.99,5.99,-0.119000,1.557000,6.637000,0.951000,0.999000,1.000000,10.2872
missense_variant,WDR55,MISSENSE,NM_017706.4:p.Cys151Arg/c.451T>C,Tgt/Cgt,MODERATE,,0.952276,1,rs2530245,0.96(T),0.0(B),-1.63(N),-0.9954(T),,chr5,140048267,140048267,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys151Arg/c.451T>C|383|WDR55|protein_coding|CODING|NM_017706.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9856,0.998,,,,,1.000000(U),0.829(P),1.81(T),0.0000(T),0.194,-0.944726,5.3,3.5,-0.642000,0.626000,1.238000,0.270000,0.911000,0.885000,5.4948
synonymous_variant,PCDHA1,SILENT,NM_018900.3:p.Leu530Leu/c.1588C>T,Ctg/Ttg,LOW,,0.521565,0.5149,rs3733710,,,,,,chr5,140167463,140167463,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu530Leu/c.1588C>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu530Leu/c.1588C>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu530Leu/c.1588C>T|807|PCDHA1|protein_coding|CODING|NM_031410.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3",,,,0.5235,0.5865,0.5368,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHA1,MISSENSE,NM_018900.3:p.Tyr732Cys/c.2195A>G,tAt/tGt,MODERATE,COSM1433691(4),0.525359,0.5317,rs2240696,0.83(T),"0.0,0.001(B,B)",-2.685(N),-0.9827(T),,chr5,140168070,140168070,A,G,hom,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr732Cys/c.2195A>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr732Cys/c.2195A>G|807|PCDHA1|protein_coding|CODING|NM_031410.2|1|1),intron_variant(MODIFIER|||c.1602+593A>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H3K79me3,NHEK:H3K27me3,CD4:H4K20me3",,,,0.5245,0.5879,0.5368,,,,,0.110983(N),1.000(P),"3.03,3.03(T,T)",0.0000(T),0.07,-2.739289,4.16,2.24,-0.133000,0.322000,0.396000,0.001000,0.001000,0.001000,3.7944
missense_variant,PCDHA1,MISSENSE,NM_018900.3:p.Cys759Phe/c.2276G>T,tGc/tTc,MODERATE,COSM4159458(1),0.524161,0.5317,rs2240695,0.01(D),"0.03,0.067(B,B)",3.25(M),-0.9444(T),,chr5,140168151,140168151,G,T,hom,"missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys759Phe/c.2276G>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys759Phe/c.2276G>T|807|PCDHA1|protein_coding|CODING|NM_031410.2|1|1),intron_variant(MODIFIER|||c.1602+674G>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H3K79me3,NHEK:H3K27me3,CD4:H4K20me3",,,,0.5235,0.5879,0.5368,,,,,0.019194(U),0.000(P),"2.49,2.49(T,T)",0.0000(T),0.194,1.328001,4.34,4.34,0.644000,2.145000,2.645000,0.038000,0.994000,0.994000,10.5955
missense_variant,PCDHA1,MISSENSE,NM_031410.2:p.Trp806Arg/c.2416T>C,Tgg/Cgg,MODERATE,,0.00758786,0,rs34042554,,0.025(B),,-1.0784(T),,chr5,140168291,140168291,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp806Arg/c.2416T>C|807|PCDHA1|protein_coding|CODING|NM_031410.2|1|1),intron_variant(MODIFIER|||c.1602+814T>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+22T>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.0041,0.013,0.0239,,,,,,1.000(N),0.81(T),0.0284(T),0.024,1.342857,4.03,2.75,0.447000,1.621000,0.632000,0.248000,0.002000,0.005000,9.3314
missense_variant,PCDHA2,MISSENSE,NM_018905.2:p.Glu25Lys/c.73G>A,Gag/Aag,MODERATE,COSM4159459(1),0.526158,0.5317,rs9686540,0.16(T),"0.03,0.02,0.03(B,B,B)",0.95(L),-0.9300(T),,chr5,140174622,140174622,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu25Lys/c.73G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu25Lys/c.73G>A|808|PCDHA2|protein_coding|CODING|NM_031496.1|1|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu25Lys/c.73G>A|824|PCDHA2|protein_coding|CODING|NM_031495.1|1|1),intron_variant(MODIFIER|||c.1602+7145G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+6353G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K4me3",,,,0.5235,0.5908,0.5378,,,,,0.600150(U),0.989(P),"0.78,0.71,0.71(T,T,T)",0.0000(T),0.121,0.349276,4.01,-0.127,0.549000,-0.144000,0.314000,0.033000,0.011000,0.096000,2.3657
missense_variant,PCDHA2,MISSENSE,NM_018905.2:p.Val106Leu/c.316G>C,Gtg/Ctg,MODERATE,COSM3760953(3),0.599042,0.5317,rs11167600,1(T),"0.001,0.001,0.001(B,B,B)",-2.515(N),-0.9148(T),,chr5,140174865,140174865,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val106Leu/c.316G>C|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val106Leu/c.316G>C|808|PCDHA2|protein_coding|CODING|NM_031496.1|1|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val106Leu/c.316G>C|824|PCDHA2|protein_coding|CODING|NM_031495.1|1|1),intron_variant(MODIFIER|||c.1602+7388G>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+6596G>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:DNase1,H1ESC:H3K4me3,HeLa-S3:CTCF,HepG2:CTCF,H1ESC:CTCF",,,,0.5235,0.6066,0.5388,,,,,0.007650(N),0.000(P),"0.62,0.62,0.62(T,T,T)",0.0000(T),0.034,-0.858219,3.98,3.98,-0.132000,1.045000,0.027000,0.485000,1.000000,0.010000,14.1357
missense_variant,PCDHA3,MISSENSE,NM_018906.2:p.Ile318Val/c.952A>G,Atc/Gtc,MODERATE,COSM3760956(1),0.525359,0.5317,rs3733708,0(D),"0.359,0.651(B,P)",2.235(M),-0.8475(T),,chr5,140181734,140181734,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile318Val/c.952A>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile318Val/c.952A>G|824|PCDHA3|protein_coding|CODING|NM_031497.1|1|1),intron_variant(MODIFIER|||c.1602+14257A>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+13465A>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-2911A>G|808|PCDHA2|protein_coding|CODING|NM_031496.1|1|1),intron_variant(MODIFIER|||c.2388+4797A>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1)",H1ESC:H3K36me3,,,,0.5235,0.5893,0.5378,,,,,0.000743(U),0.000(P),"0.66,0.66(T,T)",0.0000(T),0.067,2.454859,4.79,3.54,0.383000,1.925000,-0.509000,0.953000,0.985000,0.000000,10.5422
synonymous_variant,PCDHA3,SILENT,NM_018906.2:p.Ala370Ala/c.1110T>C,gcT/gcC,LOW,COSM3760958(1),0.601238,0.5317,rs3733707,,,,,,chr5,140181892,140181892,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala370Ala/c.1110T>C|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala370Ala/c.1110T>C|824|PCDHA3|protein_coding|CODING|NM_031497.1|1|1),intron_variant(MODIFIER|||c.1602+14415T>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+13623T>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-2753T>C|808|PCDHA2|protein_coding|CODING|NM_031496.1|1|1),intron_variant(MODIFIER|||c.2388+4955T>C|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1)","H1ESC:H3K36me3,CD4:H3K79me3",,,,0.5235,0.6052,0.5388,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHA3,MISSENSE,NM_018906.2:p.Ser440Ile/c.1319G>T,aGc/aTc,MODERATE,COSM1130916(7),0.591454,0.5327,rs7701755,0.12(T),"0.089,0.438(B,B)",0.575(N),-0.9985(T),,chr5,140182101,140182101,G,T,hom,"missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser440Ile/c.1319G>T|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser440Ile/c.1319G>T|824|PCDHA3|protein_coding|CODING|NM_031497.1|1|1),intron_variant(MODIFIER|||c.1602+14624G>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+13832G>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-2544G>T|808|PCDHA2|protein_coding|CODING|NM_031496.1|1|1),intron_variant(MODIFIER|||c.2388+5164G>T|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1)","H1ESC:H3K36me3,CD4:H3K79me3",,,,0.5235,0.6052,0.5388,,,,,0.028479(U),0.000(P),"0.68,0.68(T,T)",0.0000(T),0.101,1.880266,4.75,3.86,0.461000,1.106000,-1.041000,0.938000,1.000000,0.000000,10.1855
missense_variant,PCDHA3,MISSENSE,NM_018906.2:p.Cys759Tyr/c.2276G>A,tGc/tAc,MODERATE,COSM3760960(2),0.525359,0.5317,rs2240694,0.01(D),"0.042,0.013(B,B)",3.08(M),-0.9781(T),,chr5,140183058,140183058,G,A,hom,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys759Tyr/c.2276G>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys759Tyr/c.2276G>A|824|PCDHA3|protein_coding|CODING|NM_031497.1|1|1),intron_variant(MODIFIER|||c.1602+15581G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+14789G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-1587G>A|808|PCDHA2|protein_coding|CODING|NM_031496.1|1|1),intron_variant(MODIFIER|||c.2388+6121G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3",,,,0.5235,0.5893,0.5378,,,,,0.087381(U),0.000(P),"2.49,2.49(T,T)",0.0000(T),0.155,1.836155,4.16,3.26,0.467000,0.828000,.,0.619000,0.987000,.,13.8703
missense_variant,PCDHA4,MISSENSE,NM_018907.3:p.Glu55Asp/c.165G>T,gaG/gaT,MODERATE,,0.331869,0.5139,rs11167605,0.16(T),"0.028,0.006,0.012(B,B,B)",0.765(N),-0.9294(T),,chr5,140186937,140186937,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu55Asp/c.165G>T|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu55Asp/c.165G>T|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),downstream_gene_variant(MODIFIER||1733||808|PCDHA2|protein_coding|CODING|NM_031496.1||1),intron_variant(MODIFIER|||c.1602+19460G>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+18668G>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+10000G>T|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+3761G>T|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K4me3",,,,0.4703,0.415,0.3738,,,,,0.000965(U),0.000(P),"1.65,1.65,1.65(T,T,T)",0.0000(T),0.03,1.059892,4.73,4.73,0.461000,2.369000,0.274000,0.936000,1.000000,0.027000,7.8007
synonymous_variant,PCDHA4,SILENT,NM_018907.3:p.Lys69Lys/c.207G>A,aaG/aaA,LOW,COSM4159463(1),0.347843,0.374,,,,,,,chr5,140186979,140186979,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys69Lys/c.207G>A|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys69Lys/c.207G>A|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),downstream_gene_variant(MODIFIER||1775||808|PCDHA2|protein_coding|CODING|NM_031496.1||1),intron_variant(MODIFIER|||c.1602+19502G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+18710G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+10042G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+3803G>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K4me3",,,,0.3231,0.4135,0.3787,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHA4,MISSENSE,NM_018907.3:p.Gly70Ser/c.208G>A,Ggc/Agc,MODERATE,COSM3747613(2),0.347843,0.374,rs3822354,0.03(D),"0.097,0.142,0.467(B,B,P)",1.12(L),-0.9590(T),,chr5,140186980,140186980,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly70Ser/c.208G>A|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly70Ser/c.208G>A|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),downstream_gene_variant(MODIFIER||1776||808|PCDHA2|protein_coding|CODING|NM_031496.1||1),intron_variant(MODIFIER|||c.1602+19503G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+18711G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+10043G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+3804G>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K4me3",,,,0.3231,0.4135,0.3787,,,,,0.216534(U),1.000(N),"1.72,1.72,1.72(T,T,T)",0.0847(T),0.045,0.754813,4.51,2.73,-0.677000,0.456000,0.792000,0.923000,0.856000,0.000000,8.2203
synonymous_variant,PCDHA4,SILENT,NM_018907.3:p.Arg92Arg/c.276G>C,cgG/cgC,LOW,COSM149924(1),,,rs3822349,,,,,,chr5,140187048,140187048,G,C,hom,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg92Arg/c.276G>C|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg92Arg/c.276G>C|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),downstream_gene_variant(MODIFIER||1844||808|PCDHA2|protein_coding|CODING|NM_031496.1||1),intron_variant(MODIFIER|||c.1602+19571G>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+18779G>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+10111G>C|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+3872G>C|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:PolII,H1ESC:H3K9ac,H1ESC:TAF1,H1ESC:H3K4me2,HUVEC:CTCF,H1ESC:DNase1,H1ESC:H3K4me3,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHA4,SILENT,NM_018907.3:p.Val110Val/c.330A>G,gtA/gtG,LOW,COSM3760963(3),,,rs3822347,,,,,,chr5,140187102,140187102,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val110Val/c.330A>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val110Val/c.330A>G|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),downstream_gene_variant(MODIFIER||1898||808|PCDHA2|protein_coding|CODING|NM_031496.1||1),intron_variant(MODIFIER|||c.1602+19625A>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+18833A>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+10165A>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+3926A>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:PolII,NHEK:CTCF,H1ESC:H3K9ac,H1ESC:TAF1,K562:CTCF,H1ESC:H3K4me2,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,H1ESC:H3K4me3,HeLa-S3:CTCF,HepG2:CTCF,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHA4,MISSENSE,NM_018907.3:p.Pro184Ser/c.550C>T,Cct/Tct,MODERATE,COSM3760964(2),0.591254,0.5317,rs3822346,0.73(T),"0.002,0.001,0.001(B,B,B)",-1.715(N),-0.9814(T),,chr5,140187322,140187322,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro184Ser/c.550C>T|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro184Ser/c.550C>T|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),intron_variant(MODIFIER|||c.1602+19845C>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+19053C>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+10385C>T|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+4146C>T|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:PolII,NHEK:CTCF,H1ESC:TAF1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,H1ESC:H3K4me3,HeLa-S3:CTCF,HepG2:CTCF,H1ESC:CTCF",,,,0.5235,0.6052,0.5388,,,,,0.220228(N),1.000(P),"0.76,0.76,0.76(T,T,T)",0.0000(T),0.008,-1.639781,4.47,-0.0101,-0.360000,-0.113000,-3.104000,0.334000,0.001000,0.000000,5.0772
synonymous_variant,PCDHA4,SILENT,NM_018907.3:p.Ala537Ala/c.1611T>G,gcT/gcG,LOW,COSM1754031(5),0.591254,0.5317,rs2337987,,,,,,chr5,140188383,140188383,T,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala537Ala/c.1611T>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala537Ala/c.1611T>G|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),intron_variant(MODIFIER|||c.1602+20906T>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+20114T>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+11446T>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+5207T>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:H3K36me3,CD4:H3K79me3",,,,0.5235,0.6052,0.5388,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHA4,SILENT,NM_018907.3:p.Pro543Pro/c.1629A>G,ccA/ccG,LOW,COSM3722960(3),0.591254,0.5317,rs2879086,,,,,,chr5,140188401,140188401,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro543Pro/c.1629A>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro543Pro/c.1629A>G|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),intron_variant(MODIFIER|||c.1602+20924A>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+20132A>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+11464A>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+5225A>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)","H1ESC:H3K36me3,CD4:H3K79me3",,,,0.5235,0.6052,0.5388,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHA4,SILENT,NM_018907.3:p.Ser601Ser/c.1803G>C,tcG/tcC,LOW,,0.591454,0.5317,rs2879087,,,,,,chr5,140188575,140188575,G,C,hom,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser601Ser/c.1803G>C|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser601Ser/c.1803G>C|798|PCDHA4|protein_coding|CODING|NM_031500.2|1|1),intron_variant(MODIFIER|||c.1602+21098G>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+20306G>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+11638G>C|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+5399G>C|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1)",H1ESC:H3K36me3,,,,0.5235,0.6066,0.5388,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHA5,SILENT,NM_018908.2:p.Leu20Leu/c.60T>C,ctT/ctC,LOW,COSM3760968(1),0.601038,0.5337,rs11958868,,,,,,chr5,140201420,140201420,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu20Leu/c.60T>C|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu20Leu/c.60T>C|816|PCDHA5|protein_coding|CODING|NM_031501.1|1|1),intron_variant(MODIFIER|||c.1602+33943T>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+33151T>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+24483T>C|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+18244T>C|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+12263T>C|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1)",,,,,0.5235,0.6037,0.5388,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHA5,MISSENSE,NM_018908.2:p.Glu187Lys/c.559G>A,Gaa/Aaa,MODERATE,,0.00758786,0,rs61730632,0.89(T),"0.008,0.005,0.007(B,B,B)",1.085(L),-0.9698(T),,chr5,140201919,140201919,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu187Lys/c.559G>A|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu187Lys/c.559G>A|816|PCDHA5|protein_coding|CODING|NM_031501.1|1|1),intron_variant(MODIFIER|||c.1602+34442G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+33650G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+24982G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+18743G>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+12762G>A|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1)","NHEK:CTCF,K562:CTCF,HUVEC:CTCF,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,HepG2:CTCF",,,,0.0041,0.013,0.0239,,,,,,1.000(N),"2.06,2.06,2.06(T,T,T)",0.0115(T),0.207,-0.904711,4.02,-0.519,-0.218000,-0.028000,-0.582000,0.551000,0.459000,0.000000,9.2031
missense_variant,PCDHA5,MISSENSE,NM_018908.2:p.Ala691Val/c.2072C>T,gCc/gTc,MODERATE,COSM4159476(2),0.534145,0.5317,rs4141841,0.12(T),"0.004,0.008,0.005(B,B,B)",1.81(L),-0.9290(T),,chr5,140203432,140203432,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala691Val/c.2072C>T|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala691Val/c.2072C>T|816|PCDHA5|protein_coding|CODING|NM_031501.1|1|1),intron_variant(MODIFIER|||c.1602+35955C>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+35163C>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+26495C>T|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+20256C>T|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+14275C>T|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1)",H1ESC:H3K36me3,,,,0.5235,0.5922,0.5378,,,,,,0.000(P),"0.75,0.7,0.72(T,T,T)",0.0000(T),0.131,2.168726,3.9,3.9,0.313000,1.899000,-0.140000,0.517000,0.173000,0.000000,14.4262
synonymous_variant,PCDHA6,SILENT,NM_018909.3:p.Val597Val/c.1791T>G,gtT/gtG,LOW,COSM4159478(1),0.60024,0.5327,rs7710794,,,,,,chr5,140209467,140209467,T,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val597Val/c.1791T>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val597Val/c.1791T>G|803|PCDHA6|protein_coding|CODING|NM_031848.2|1|1),intron_variant(MODIFIER|||c.1602+41990T>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+41198T>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+32530T>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+26291T>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+20310T>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+5755T>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+189T>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1)",H1ESC:H3K36me3,,,,0.5235,0.6052,0.5378,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHA7,MISSENSE,NM_018910.2:p.Ser88Cys/c.263C>G,tCt/tGt,MODERATE,COSM1744059(2),0.0299521,0.0169,rs17844305,0(D),"0.984,0.975(D,D)",3.28(M),-0.7857(T),,chr5,140214231,140214231,C,G,het,"missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser88Cys/c.263C>G|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser88Cys/c.263C>G|789|PCDHA7|protein_coding|CODING|NM_031852.1|1|1),intron_variant(MODIFIER|||c.1602+46754C>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+45962C>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+37294C>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+31055C>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+25074C>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+10519C>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+4953C>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+4161C>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1)","H1ESC:DNase1,HUVEC:DNase1,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K27me3,H1ESC:CTCF",,,,0.0276,0.0648,0.0586,,,,,0.155880(U),0.000(P),"1.59,1.59(T,T)",0.0187(T),0.158,2.722186,4.17,3.27,0.449000,0.824000,1.066000,0.971000,0.997000,0.000000,9.2757
missense_variant,PCDHA7,MISSENSE,NM_018910.2:p.Arg138Lys/c.413G>A,aGg/aAg,MODERATE,COSM4159480(1),,,rs10067182,0.72(T),"0.0,0.003(B,B)",-2.175(N),-0.9627(T),,chr5,140214381,140214381,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg138Lys/c.413G>A|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg138Lys/c.413G>A|789|PCDHA7|protein_coding|CODING|NM_031852.1|1|1),intron_variant(MODIFIER|||c.1602+46904G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+46112G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+37444G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+31205G>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+25224G>A|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+10669G>A|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+5103G>A|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+4311G>A|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HUVEC:DNase1,HepG2:CTCF,HepG2:H3K27me3,H1ESC:CTCF",,,,,,,,,,,0.521196(N),1.000(P),"2.12,2.12(T,T)",0.0103(T),0.067,-0.957217,4.17,1.71,-0.556000,-0.134000,-0.655000,0.059000,0.008000,0.000000,8.3686
missense_variant,PCDHA8,MISSENSE,NM_018911.2:p.Phe64Leu/c.192C>G,ttC/ttG,MODERATE,COSM3760969(1),0.0489217,0.0169,rs62624460,0.05(D),"0.386,0.281(B,B)",0.9(L),-1.0689(T),,chr5,140221098,140221098,C,G,het,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe64Leu/c.192C>G|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe64Leu/c.192C>G|814|PCDHA8|protein_coding|CODING|NM_031856.1|1|1),intron_variant(MODIFIER|||c.1602+53621C>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+52829C>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+44161C>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+37922C>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+31941C>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+17386C>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+11820C>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+11028C>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2355+4775C>G|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1)","K562:CTCF,H1ESC:DNase1,H1ESC:H3K4me3",,,,0.045,0.0893,0.0765,,,,,0.001585(U),0.000(P),"1.11,1.11(T,T)",0.0027(T),0.076,2.181984,3.95,3.95,0.557000,1.905000,-0.173000,0.983000,1.000000,0.056000,7.6064
missense_variant,PCDHA8,MISSENSE,NM_018911.2:p.Ser78Asn/c.233G>A,aGt/aAt,MODERATE,COSM149927(5),0.595248,0.5337,rs3756331,1(T),"0.0,0.0(B,B)",-2.05(N),-0.9425(T),,chr5,140221139,140221139,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser78Asn/c.233G>A|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser78Asn/c.233G>A|814|PCDHA8|protein_coding|CODING|NM_031856.1|1|1),intron_variant(MODIFIER|||c.1602+53662G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+52870G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+44202G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+37963G>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+31982G>A|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+17427G>A|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+11861G>A|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+11069G>A|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2355+4816G>A|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1)","K562:CTCF,H1ESC:DNase1,H1ESC:H3K4me3",,,,0.5245,0.6009,0.5338,,,,,0.001480(N),1.000(P),"1.34,1.34(T,T)",0.0000(T),0.018,-0.917356,3.91,2.73,-0.389000,0.083000,3.070000,0.851000,0.985000,0.478000,4.5167
missense_variant,PCDHA8,MISSENSE,NM_018911.2:p.Arg417Ser/c.1251A>C,agA/agC,MODERATE,COSM149930(3),0.383387,0.5268,rs3733705,1(T),"0.005,0.002(B,B)",0.395(N),-0.9644(T),,chr5,140222157,140222157,A,C,hom,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg417Ser/c.1251A>C|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg417Ser/c.1251A>C|814|PCDHA8|protein_coding|CODING|NM_031856.1|1|1),intron_variant(MODIFIER|||c.1602+54680A>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+53888A>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+45220A>C|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+38981A>C|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+33000A>C|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+18445A>C|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+12879A>C|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+12087A>C|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2355+5834A>C|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1)","H1ESC:H3K36me3,CD4:H3K79me3",,,,0.498,0.4611,0.4036,,,,,0.297205(N),1.000(P),"4.75,4.75(T,T)",0.0000(T),0.038,-2.540342,3.57,-2.11,-0.672000,-0.413000,-2.436000,0.027000,0.002000,0.000000,1.3206
missense_variant,PCDHA8,MISSENSE,NM_018911.2:p.Lys579Glu/c.1735A>G,Aag/Gag,MODERATE,,0.575479,0.5268,rs6580012,1(T),"0.0,0.0(B,B)",-1.1(N),-0.9816(T),,chr5,140222641,140222641,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys579Glu/c.1735A>G|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys579Glu/c.1735A>G|814|PCDHA8|protein_coding|CODING|NM_031856.1|1|1),intron_variant(MODIFIER|||c.1602+55164A>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+54372A>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+45704A>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+39465A>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+33484A>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+18929A>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+13363A>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+12571A>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2355+6318A>G|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1)",H1ESC:H3K36me3,,,,0.5072,0.562,0.4911,,,,,0.002335(N),1.000(P),"2.12,2.12(T,T)",0.0000(T),0.012,-0.665977,3.49,0.381,-0.665000,-0.581000,1.550000,0.029000,0.000000,0.192000,6.1288
missense_variant,PCDHA12,MISSENSE,NM_018903.3:p.Leu21Arg/c.62T>G,cTt/cGt,MODERATE,,0.00778754,0,rs114654172,0.34(T),"0.817,0.66(P,P)",3.67(H),-0.8078(T),,chr5,140255119,140255119,T,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu21Arg/c.62T>G|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu21Arg/c.62T>G|792|PCDHA12|protein_coding|CODING|NM_031864.2|1|1),intron_variant(MODIFIER|||c.1602+87642T>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+86850T>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+78182T>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+71943T>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+65962T>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+51407T>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+45841T>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+45049T>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2355+38796T>G|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2394+31819T>G|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2394+24645T>G|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1599+17887T>G|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2388+17098T>G|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2391+4040T>G|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1)","H1ESC:H3K9ac,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:DNase1,H1ESC:H3K4me3,NHEK:H3K27me3",,,,0.0041,0.013,0.0249,,,,,,1.000(N),0.55(T),0.1558(T),0.218,2.886384,5.13,2.58,0.533000,1.934000,1.385000,0.005000,0.317000,0.012000,7.2956
synonymous_variant,PCDHA13,SILENT,NM_018904.2:p.Thr213Thr/c.639A>T,acA/acT,LOW,,0.0808706,0.0179,rs11744560,,,,,,chr5,140262492,140262492,A,T,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr213Thr/c.639A>T|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr213Thr/c.639A>T|807|PCDHA13|protein_coding|CODING|NM_031865.1|1|1),intron_variant(MODIFIER|||c.1602+95015A>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+94223A>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+85555A>T|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+79316A>T|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+73335A>T|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+58780A>T|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+53214A>T|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+52422A>T|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2355+46169A>T|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2394+39192A>T|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2394+32018A>T|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1599+25260A>T|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2388+24471A>T|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2391+11413A>T|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2367+5068A>T|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1)","H1ESC:DNase1,H1ESC:Rad21",,,,0.0521,0.1239,0.1421,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHA13,SILENT,NM_018904.2:p.Ala479Ala/c.1437T>G,gcT/gcG,LOW,COSM448826(1),0.633586,0.4762,rs251380,,,,,,chr5,140263290,140263290,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala479Ala/c.1437T>G|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala479Ala/c.1437T>G|807|PCDHA13|protein_coding|CODING|NM_031865.1|1|1),intron_variant(MODIFIER|||c.1603-95244T>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2394+95021T>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2388+86353T>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2394+80114T>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2385+74133T>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2352+59578T>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1602+54012T>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2394+53220T>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2355+46967T>G|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2394+39990T>G|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2394+32816T>G|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1599+26058T>G|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2388+25269T>G|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2391+12211T>G|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2367+5866T>G|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1)",H1ESC:H3K36me3,,,,0.6738,0.6009,0.665,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHAC1,SILENT,NM_018898.3:p.Gln269Gln/c.807G>A,caG/caA,LOW,COSM3760972(3),0.572684,0.6071,rs155361,,,,,,chr5,140307284,140307284,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln269Gln/c.807G>A|963|PCDHAC1|protein_coding|CODING|NM_018898.3|1|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln269Gln/c.807G>A|818|PCDHAC1|protein_coding|CODING|NM_031882.3|1|1),intron_variant(MODIFIER|||c.1603-51250G>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2395-51250G>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-51250G>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2395-51250G>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2386-51250G>A|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2353-51250G>A|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1603-51250G>A|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2395-51250G>A|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2356-51250G>A|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2395-51250G>A|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2395-51250G>A|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1600-51250G>A|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2389-51250G>A|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2392-51250G>A|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2367+49860G>A|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),intron_variant(MODIFIER|||c.2394+43037G>A|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3814,0.5865,0.5169,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHAC1,SILENT,NM_018898.3:p.Pro423Pro/c.1269C>G,ccC/ccG,LOW,COSM4003332(1),0.35603,0.5476,rs155820,,,,,,chr5,140307746,140307746,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro423Pro/c.1269C>G|963|PCDHAC1|protein_coding|CODING|NM_018898.3|1|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro423Pro/c.1269C>G|818|PCDHAC1|protein_coding|CODING|NM_031882.3|1|1),intron_variant(MODIFIER|||c.1603-50788C>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2395-50788C>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-50788C>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2395-50788C>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2386-50788C>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2353-50788C>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1603-50788C>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2395-50788C>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2356-50788C>G|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2395-50788C>G|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2395-50788C>G|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1600-50788C>G|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2389-50788C>G|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2392-50788C>G|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2367+50322C>G|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),intron_variant(MODIFIER|||c.2394+43499C>G|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3252,0.3948,0.333,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHAC1,MISSENSE,NM_018898.3:p.Leu498Val/c.1492C>G,Ctg/Gtg,MODERATE,COSM3760974(2),0.576278,0.6071,rs246074,1(T),"0.003,0.001(B,B)",-1.21(N),-0.9237(T),,chr5,140307969,140307969,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu498Val/c.1492C>G|963|PCDHAC1|protein_coding|CODING|NM_018898.3|1|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu498Val/c.1492C>G|818|PCDHAC1|protein_coding|CODING|NM_031882.3|1|1),intron_variant(MODIFIER|||c.1603-50565C>G|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2395-50565C>G|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-50565C>G|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2395-50565C>G|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2386-50565C>G|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2353-50565C>G|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1603-50565C>G|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2395-50565C>G|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2356-50565C>G|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2395-50565C>G|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2395-50565C>G|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1600-50565C>G|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2389-50565C>G|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2392-50565C>G|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2367+50545C>G|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),intron_variant(MODIFIER|||c.2394+43722C>G|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3814,0.5908,0.5169,,,,,,0.000(P),"0.11,0.11(T,T)",0.0000(T),0.062,-1.642084,5.49,4.63,-0.215000,0.700000,0.518000,0.986000,1.000000,0.987000,4.4197
synonymous_variant,PCDHAC2,SILENT,NM_018899.5:p.Pro39Pro/c.117T>A,ccT/ccA,LOW,COSM448835(7),0.582668,0.6111,rs155364,,,,,,chr5,140346468,140346468,T,A,hom,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro39Pro/c.117T>A|1007|PCDHAC2|protein_coding|CODING|NM_018899.5|1|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro39Pro/c.117T>A|884|PCDHAC2|protein_coding|CODING|NM_031883.2|1|1),intron_variant(MODIFIER|||c.1603-12066T>A|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2395-12066T>A|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-12066T>A|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2395-12066T>A|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2386-12066T>A|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2353-12066T>A|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1603-12066T>A|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2395-12066T>A|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2356-12066T>A|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2395-12066T>A|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2395-12066T>A|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1600-12066T>A|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2389-12066T>A|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2392-12066T>A|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2368-12066T>A|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),intron_variant(MODIFIER|||c.2395-12066T>A|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1),intron_variant(MODIFIER|||c.2434-12066T>A|963|PCDHAC1|protein_coding|CODING|NM_018898.3|1|1)","H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NHEK:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.3988,0.5994,0.5209,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHAC2,SILENT,NM_018899.5:p.Leu121Leu/c.361T>C,Ttg/Ctg,LOW,,0.359425,0.5486,rs155808,,,,,,chr5,140346712,140346712,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu121Leu/c.361T>C|1007|PCDHAC2|protein_coding|CODING|NM_018899.5|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu121Leu/c.361T>C|884|PCDHAC2|protein_coding|CODING|NM_031883.2|1|1),intron_variant(MODIFIER|||c.1603-11822T>C|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2395-11822T>C|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-11822T>C|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2395-11822T>C|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2386-11822T>C|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2353-11822T>C|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1603-11822T>C|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2395-11822T>C|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2356-11822T>C|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2395-11822T>C|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2395-11822T>C|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1600-11822T>C|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2389-11822T>C|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2392-11822T>C|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2368-11822T>C|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),intron_variant(MODIFIER|||c.2395-11822T>C|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1),intron_variant(MODIFIER|||c.2434-11822T>C|963|PCDHAC1|protein_coding|CODING|NM_018898.3|1|1)","NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NHEK:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.3354,0.402,0.3419,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHAC2,SILENT,NM_018899.5:p.Ile234Ile/c.702C>T,atC/atT,LOW,COSM4003334(1),0.354832,0.5456,rs155807,,,,,,chr5,140347053,140347053,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile234Ile/c.702C>T|1007|PCDHAC2|protein_coding|CODING|NM_018899.5|1|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile234Ile/c.702C>T|884|PCDHAC2|protein_coding|CODING|NM_031883.2|1|1),intron_variant(MODIFIER|||c.1603-11481C>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2395-11481C>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-11481C>T|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2395-11481C>T|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2386-11481C>T|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2353-11481C>T|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1603-11481C>T|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2395-11481C>T|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2356-11481C>T|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2395-11481C>T|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2395-11481C>T|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1600-11481C>T|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2389-11481C>T|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2392-11481C>T|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2368-11481C>T|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),intron_variant(MODIFIER|||c.2395-11481C>T|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1),intron_variant(MODIFIER|||c.2434-11481C>T|963|PCDHAC1|protein_coding|CODING|NM_018898.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NHEK:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.3313,0.3934,0.332,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHAC2,SILENT,NM_018899.5:p.Cys349Cys/c.1047C>T,tgC/tgT,LOW,COSM3760975(1),0.0760783,0.0188,rs12153295,,,,,,chr5,140347398,140347398,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys349Cys/c.1047C>T|1007|PCDHAC2|protein_coding|CODING|NM_018899.5|1|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys349Cys/c.1047C>T|884|PCDHAC2|protein_coding|CODING|NM_031883.2|1|1),intron_variant(MODIFIER|||c.1603-11136C>T|686|PCDHA1|protein_coding|CODING|NM_031411.2|1|1),intron_variant(MODIFIER|||c.2395-11136C>T|950|PCDHA1|protein_coding|CODING|NM_018900.3|1|1),intron_variant(MODIFIER|||c.2389-11136C>T|948|PCDHA2|protein_coding|CODING|NM_018905.2|1|1),intron_variant(MODIFIER|||c.2395-11136C>T|950|PCDHA3|protein_coding|CODING|NM_018906.2|1|1),intron_variant(MODIFIER|||c.2386-11136C>T|947|PCDHA4|protein_coding|CODING|NM_018907.3|1|1),intron_variant(MODIFIER|||c.2353-11136C>T|936|PCDHA5|protein_coding|CODING|NM_018908.2|1|1),intron_variant(MODIFIER|||c.1603-11136C>T|686|PCDHA6|protein_coding|CODING|NM_031849.2|1|1),intron_variant(MODIFIER|||c.2395-11136C>T|950|PCDHA6|protein_coding|CODING|NM_018909.3|1|1),intron_variant(MODIFIER|||c.2356-11136C>T|937|PCDHA7|protein_coding|CODING|NM_018910.2|1|1),intron_variant(MODIFIER|||c.2395-11136C>T|950|PCDHA8|protein_coding|CODING|NM_018911.2|1|1),intron_variant(MODIFIER|||c.2395-11136C>T|950|PCDHA9|protein_coding|CODING|NM_031857.1|1|1),intron_variant(MODIFIER|||c.1600-11136C>T|685|PCDHA10|protein_coding|CODING|NM_031860.2|1|1),intron_variant(MODIFIER|||c.2389-11136C>T|948|PCDHA10|protein_coding|CODING|NM_018901.3|1|1),intron_variant(MODIFIER|||c.2392-11136C>T|949|PCDHA11|protein_coding|CODING|NM_018902.4|1|1),intron_variant(MODIFIER|||c.2368-11136C>T|941|PCDHA12|protein_coding|CODING|NM_018903.3|1|1),intron_variant(MODIFIER|||c.2395-11136C>T|950|PCDHA13|protein_coding|CODING|NM_018904.2|1|1),intron_variant(MODIFIER|||c.2434-11136C>T|963|PCDHAC1|protein_coding|CODING|NM_018898.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0624,0.1254,0.1451,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHB4,SILENT,NM_018938.3:p.Leu199Leu/c.597G>A,ctG/ctA,LOW,COSM4003340(1),0.250998,0.4544,rs3776100,,,,,,chr5,140502177,140502177,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu199Leu/c.597G>A|795|PCDHB4|protein_coding|CODING|NM_018938.3|1|1),HepG2:H3K27me3,,,,0.3313,0.3184,0.2336,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB5,MISSENSE,NM_015669.3:p.Ser720Pro/c.2158T>C,Tcg/Ccg,MODERATE,,0.85024,0.8819,rs400562,0.11(T),0.757(P),2.335(M),-0.9445(T),,chr5,140517174,140517174,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser720Pro/c.2158T>C|795|PCDHB5|protein_coding|CODING|NM_015669.3|1|1),H1ESC:H3K36me3,,,,0.8916,0.7954,0.838,,,,,,1.000(P),2.53(T),0.0000(T),0.042,1.348983,4.44,-8.88,-3.230000,-1.420000,-1.459000,0.000000,0.000000,0.000000,3.2253
missense_variant,PCDHB6,MISSENSE,NM_018939.2:p.Val231Ile/c.691G>A,Gtt/Att,MODERATE,,0.267772,0.5298,rs3776096,0.13(T),0.162(B),1.435(L),-0.9167(T),,chr5,140530529,140530529,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val231Ile/c.691G>A|794|PCDHB6|protein_coding|CODING|NM_018939.2|1|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.3364,0.3141,0.2416,,,,,,0.575(P),"0.1,0.1(T,T)",0.0000(T),0.069,2.339532,4.85,3.06,0.561000,0.566000,4.095000,0.849000,0.079000,1.000000,10.3152
missense_variant,PCDHB6,MISSENSE,NM_018939.2:p.Val446Ala/c.1337T>C,gTc/gCc,MODERATE,COSM4159511(1),1,1,rs246707,1(T),0.0(B),-2.535(N),-1.0533(T),,chr5,140531175,140531175,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val446Ala/c.1337T>C|794|PCDHB6|protein_coding|CODING|NM_018939.2|1|1),"H1ESC:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,1.000(P),"5.33,5.33(T,T)",0.0000(T),0.074,-0.510485,4.18,3.29,-0.330000,0.343000,3.884000,0.784000,0.895000,0.106000,8.8501
missense_variant,PCDHB7,MISSENSE,NM_018940.3:p.Val389Leu/c.1165G>C,Gtc/Ctc,MODERATE,COSM1434230(1),0.627396,0.6607,rs2910313,1(T),0.001(B),-1.025(N),-0.9158(T),,chr5,140553581,140553581,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val389Leu/c.1165G>C|793|PCDHB7|protein_coding|CODING|NM_018940.3|1|1),HepG2:H3K27me3,,,,0.5849,0.6369,0.5477,,,,,,1.000(P),0.72(T),0.0000(T),0.022,-1.066570,4.61,2.73,-0.127000,0.096000,-0.008000,0.824000,0.355000,0.000000,10.0458
missense_variant,PCDHB7,MISSENSE,NM_018940.3:p.Arg716Trp/c.2146A>T,Agg/Tgg,MODERATE,COSM3760986(1),0.0970447,0.0913,rs2910314,0(D),0.928(D),3.945(H),-1.0973(T),,chr5,140554562,140554562,A,T,het,missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg716Trp/c.2146A>T|793|PCDHB7|protein_coding|CODING|NM_018940.3|1|1),NHEK:H3K27me3,,,,0.1677,0.0879,0.1461,,,,,,1.000(P),2.53(T),0.0007(T),0.152,3.661912,3.55,-7.1,-0.685000,-2.362000,0.554000,0.310000,0.000000,0.000000,7.6427
synonymous_variant,PCDHB7,SILENT,NM_018940.3:p.Phe730Phe/c.2190T>C,ttT/ttC,LOW,COSM1434242(1),0.269968,0.5278,rs11741863,,,,,,chr5,140554606,140554606,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe730Phe/c.2190T>C|793|PCDHB7|protein_coding|CODING|NM_018940.3|1|1),NHEK:H3K27me3,,,,0.32,0.3055,0.2296,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB8,MISSENSE,NM_019120.3:p.Lys199Asn/c.597A>C,aaA/aaC,MODERATE,,0.0966454,0.0913,rs2950845,0.01(D),0.93(D),2.94(M),-0.8673(T),,chr5,140558212,140558212,A,C,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys199Asn/c.597A>C|801|PCDHB8|protein_coding|CODING|NM_019120.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1667,0.0893,0.1441,,,,,,1.000(P),0.42(T),0.0027(T),0.058,2.668435,4.25,4.25,0.477000,1.558000,0.506000,0.943000,0.833000,0.019000,4.6337
synonymous_variant,PCDHB8,SILENT,NM_019120.3:p.Asn237Asn/c.711T>C,aaT/aaC,LOW,COSM3768183(2),0.455871,0.5327,rs2910317,,,,,,chr5,140558326,140558326,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn237Asn/c.711T>C|801|PCDHB8|protein_coding|CODING|NM_019120.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3824,0.4971,0.3559,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB8,MISSENSE,NM_019120.3:p.Glu244Gln/c.730G>C,Gag/Cag,MODERATE,COSM1742249(1),0.096845,0.0913,rs2950844,0.17(T),0.006(B),0.665(N),-1.0976(T),,chr5,140558345,140558345,G,C,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu244Gln/c.730G>C|801|PCDHB8|protein_coding|CODING|NM_019120.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1677,0.0879,0.1451,,,,,,0.974(P),0.15(T),0.0004(T),0.049,0.868938,4.25,2.31,0.585000,1.911000,0.192000,0.993000,0.993000,0.009000,2.2067
missense_variant,PCDHB16,MISSENSE,NM_020957.3:p.Arg202Gln/c.605G>A,cGg/cAg,MODERATE,,0.0231629,0,rs61743469,0(D),0.939(D),4.345(H),-0.0062(T),,chr5,140562739,140562739,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg202Gln/c.605G>A|776|PCDHB16|protein_coding|CODING|NM_020957.3|1|1),HepG2:H3K27me3,,,,0.0225,0.0418,0.0596,,,,,0.009087(N),0.988(D),0.27(T),0.1432(T),0.324,5.170048,4.69,4.69,0.655000,2.139000,5.738000,0.757000,0.991000,0.978000,17.6048
missense_variant,PCDHB16,MISSENSE,NM_020957.3:p.Thr482Ile/c.1445C>T,aCc/aTc,MODERATE,COSM3760989(1),0.263179,0.5308,rs17844646,0.14(T),0.58(P),0.56(N),-0.9595(T),,chr5,140563579,140563579,C,T,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr482Ile/c.1445C>T|776|PCDHB16|protein_coding|CODING|NM_020957.3|1|1),H1ESC:H3K36me3,,,,0.3211,0.3069,0.2376,,,,,0.220040(N),1.000(P),0.64(T),0.0000(T),0.049,2.269951,4.26,2.24,0.580000,0.747000,-0.036000,0.574000,0.841000,0.000000,7.8603
missense_variant,PCDHB16,MISSENSE,NM_020957.3:p.Gln638His/c.1914G>C,caG/caC,MODERATE,COSM3946985(2),0.260583,0.5308,rs17844664,0.89(T),0.001(B),0.355(N),-0.9388(T),,chr5,140564048,140564048,G,C,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln638His/c.1914G>C|776|PCDHB16|protein_coding|CODING|NM_020957.3|1|1),"H1ESC:H3K36me3,H1ESC:DNase1",,,,0.319,0.3012,0.2306,,,,,0.208799(N),1.000(P),0.77(T),0.0000(T),0.071,-1.544803,3.96,-0.91,-0.702000,-0.483000,-1.785000,0.298000,0.332000,0.000000,14.0885
missense_variant,PCDHB16,MISSENSE,NM_020957.3:p.Arg652Cys/c.1954C>T,Cgc/Tgc,MODERATE,COSM3760990(3),0.270567,0.5298,rs13176519,0.03(D),0.082(B),2.175(M),-0.9257(T),,chr5,140564088,140564088,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg652Cys/c.1954C>T|776|PCDHB16|protein_coding|CODING|NM_020957.3|1|1),"H1ESC:H3K36me3,H1ESC:DNase1,H1ESC:CTCF",,,,0.32,0.3055,0.2306,,,,,0.437375(N),0.032(P),0.53(T),0.0000(T),0.159,2.422182,3.75,1.8,0.298000,0.511000,1.911000,0.827000,0.884000,0.002000,7.6146
missense_variant,PCDHB16,MISSENSE,NM_020957.3:p.Ala710Val/c.2129C>T,gCg/gTg,MODERATE,,0.269768,0.5288,rs17844666,0.14(T),0.021(B),2.715(M),-0.9900(T),,chr5,140564263,140564263,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala710Val/c.2129C>T|776|PCDHB16|protein_coding|CODING|NM_020957.3|1|1),"H1ESC:H3K36me3,H1ESC:DNase1,H1ESC:CTCF",,,,0.318,0.3055,0.2306,,,,,0.327546(N),1.000(P),2.41(T),0.0000(T),0.039,2.461805,3.91,0.912,0.479000,0.115000,-1.952000,0.269000,0.256000,0.000000,7.2915
missense_variant,PCDHB9,MISSENSE,NM_019119.4:p.Arg124Ser/c.372G>T,agG/agT,MODERATE,,0.260982,0.5278,rs2740588,,,,,,chr5,140567264,140567264,G,T,het,"missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg124Ser/c.372G>T|796|PCDHB9|protein_coding|CODING|NM_019119.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),downstream_gene_variant(MODIFIER||1468||776|PCDHB16|protein_coding|CODING|NM_020957.3||1)",,,,,0.32,0.3026,0.2326,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB9,MISSENSE,NM_019119.4:p.Ser185Gly/c.553A>G,Agt/Ggt,MODERATE,,0.270767,0.5268,rs17844512,,,,,,chr5,140567445,140567445,A,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser185Gly/c.553A>G|796|PCDHB9|protein_coding|CODING|NM_019119.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),downstream_gene_variant(MODIFIER||1649||776|PCDHB16|protein_coding|CODING|NM_020957.3||1)",,,,,0.32,0.3069,0.2326,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHB9,SILENT,NM_019119.4:p.Asn378Asn/c.1134T>C,aaT/aaC,LOW,,0.270767,0.5268,rs2697531,,,,,,chr5,140568026,140568026,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn378Asn/c.1134T>C|796|PCDHB9|protein_coding|CODING|NM_019119.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),H1ESC:H3K36me3,,,,0.32,0.3069,0.2326,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHB9,SILENT,NM_019119.4:p.Ser702Ser/c.2106C>T,tcC/tcT,LOW,,,,rs1811235,,,,,,chr5,140568998,140568998,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser702Ser/c.2106C>T|796|PCDHB9|protein_coding|CODING|NM_019119.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,H1ESC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHB10,SILENT,NM_018930.3:p.Asn181Asn/c.543C>T,aaC/aaT,LOW,COSM3760991(1),0.48722,0.5685,rs597064,,,,,,chr5,140572668,140572668,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn181Asn/c.543C>T|800|PCDHB10|protein_coding|CODING|NM_018930.3|1|1),downstream_gene_variant(MODIFIER||1557||796|PCDHB9|protein_coding|CODING|NM_019119.4||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.4172,0.5432,0.4076,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB10,MISSENSE,NM_018930.3:p.Thr213Arg/c.638C>G,aCa/aGa,MODERATE,,0.096845,0.0933,rs2907323,0(D),0.934(D),2.55(M),-1.0858(T),,chr5,140572763,140572763,C,G,het,"missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr213Arg/c.638C>G|800|PCDHB10|protein_coding|CODING|NM_018930.3|1|1),downstream_gene_variant(MODIFIER||1652||796|PCDHB9|protein_coding|CODING|NM_019119.4||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.1677,0.0879,0.1431,,,,,,0.230(P),4.1(T),0.0001(T),0.26,2.378234,3.41,3.41,0.556000,1.930000,-0.561000,0.786000,0.991000,0.000000,6.8307
synonymous_variant,PCDHB10,SILENT,NM_018930.3:p.Thr438Thr/c.1314G>C,acG/acC,LOW,,0.48762,0.5685,rs610836,,,,,,chr5,140573439,140573439,G,C,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr438Thr/c.1314G>C|800|PCDHB10|protein_coding|CODING|NM_018930.3|1|1),,,,,0.4182,0.5461,0.4076,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHB10,SILENT,NM_018930.3:p.Val439Val/c.1317C>G,gtC/gtG,LOW,,0.48762,0.5685,rs622424,,,,,,chr5,140573442,140573442,C,G,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val439Val/c.1317C>G|800|PCDHB10|protein_coding|CODING|NM_018930.3|1|1),,,,,0.4182,0.5461,0.4076,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB10,MISSENSE,NM_018930.3:p.Asp446Asn/c.1336G>A,Gac/Aac,MODERATE,,,,rs144530343,0(D),1.0(D),4.78(H),0.4603(D),,chr5,140573461,140573461,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp446Asn/c.1336G>A|800|PCDHB10|protein_coding|CODING|NM_018930.3|1|1),CD4:H3K79me3,,,,,,,,,,,,1.000(D),-0.58(T),0.4826(T),0.113,4.355497,3.22,3.22,0.549000,1.819000,9.569000,0.861000,1.000000,1.000000,14.6181
synonymous_variant,PCDHB11,SILENT,NM_018931.2:p.Ser721Ser/c.2163G>T,tcG/tcT,LOW,COSM3760992(1),,,rs638054,,,,,,chr5,140581510,140581510,G,T,het,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser721Ser/c.2163G>T|797|PCDHB11|protein_coding|CODING|NM_018931.2|1|1),"H1ESC:H3K36me3,CD4:H3K79me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB12,MISSENSE,NM_018932.3:p.Thr420Ile/c.1259C>T,aCc/aTc,MODERATE,,0.120008,0.0933,rs2910327,0(D),0.247(B),2.88(M),-1.1233(T),,chr5,140589738,140589738,C,T,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr420Ile/c.1259C>T|795|PCDHB12|protein_coding|CODING|NM_018932.3|1|1),"H1ESC:H3K36me3,HSMM:H3K27me3",,,,0.1667,0.0937,0.1412,,,,,,0.075(P),"3.96,3.96(T,T)",0.0001(T),0.663,2.550541,3.83,2.96,0.485000,0.730000,2.700000,0.299000,0.986000,0.829000,10.8885
missense_variant,PCDHB12,MISSENSE,NM_018932.3:p.Lys763Glu/c.2287A>G,Aag/Gag,MODERATE,COSM1180600(1),0.389177,0.1339,rs2910006,1(T),0.0(B),-4.025(N),-0.9519(T),,chr5,140590766,140590766,A,G,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys763Glu/c.2287A>G|795|PCDHB12|protein_coding|CODING|NM_018932.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3",,,,0.2689,0.3386,0.3211,,,,,,0.999(P),"2.72,2.72(T,T)",0.0000(T),0.041,-0.124597,3.13,3.13,-0.684000,0.422000,6.496000,0.009000,0.002000,1.000000,9.4973
synonymous_variant,PCDHB13,SILENT,NM_018933.3:p.Arg249Arg/c.747A>G,agA/agG,LOW,COSM4159537(1),,,rs17844607,,,,,,chr5,140594442,140594442,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg249Arg/c.747A>G|798|PCDHB13|protein_coding|CODING|NM_018933.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHB13,SILENT,NM_018933.3:p.Pro257Pro/c.771G>A,ccG/ccA,LOW,COSM4159538(1),,,rs17844608,,,,,,chr5,140594466,140594466,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro257Pro/c.771G>A|798|PCDHB13|protein_coding|CODING|NM_018933.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB13,MISSENSE,NM_018933.3:p.Val258Ile/c.772G>A,Gta/Ata,MODERATE,,,,,0.38(T),0.012(B),0.275(N),-0.9104(T),,chr5,140594467,140594467,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val258Ile/c.772G>A|798|PCDHB13|protein_coding|CODING|NM_018933.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),5.09(T),0.0029(T),0.061,0.799663,3.51,-6.81,-1.206000,-1.766000,-7.879000,0.704000,0.000000,0.000000,7.1952
missense_variant,PCDHB13,MISSENSE,NM_018933.3:p.Gly259Ser/c.775G>A,Ggc/Agc,MODERATE,,,,rs17844610,0.01(D),0.391(B),3.405(M),-1.0413(T),,chr5,140594470,140594470,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly259Ser/c.775G>A|798|PCDHB13|protein_coding|CODING|NM_018933.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),3.65(T),0.0456(T),0.27,3.854970,3.51,2.62,0.306000,0.580000,2.958000,0.753000,0.000000,0.226000,7.4592
missense_variant,PCDHB13,MISSENSE,NM_018933.3:p.Arg471Gly/c.1411C>G,Cgc/Ggc,MODERATE,,,,rs2910329,1(T),0.0(B),-3.25(N),-1.0340(T),,chr5,140595106,140595106,C,G,het,missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg471Gly/c.1411C>G|798|PCDHB13|protein_coding|CODING|NM_018933.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K79me3",,,,,,,,,,,,1.000(P),5.74(T),0.0000(T),0.052,-1.682679,3.67,2.78,-0.702000,0.185000,1.343000,0.611000,0.324000,0.345000,8.0096
synonymous_variant,PCDHB13,SILENT,NM_018933.3:p.Pro496Pro/c.1488G>T,ccG/ccT,LOW,,0.120208,0.0933,rs2910330,,,,,,chr5,140595183,140595183,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro496Pro/c.1488G>T|798|PCDHB13|protein_coding|CODING|NM_018933.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K79me3",,,,0.1667,0.0937,0.1421,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB15,MISSENSE,NM_018935.3:p.Ser474Arg/c.1420A>C,Agc/Cgc,MODERATE,COSM3947002(1),0.252396,0.5258,rs618506,0.11(T),0.097(B),1.515(L),-1.0070(T),,chr5,140626566,140626566,A,C,het,missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser474Arg/c.1420A>C|787|PCDHB15|protein_coding|CODING|NM_018935.3|1|1),"H1ESC:H3K36me3,H1ESC:H3K9me3",,,,0.2904,0.2911,0.2316,,,,,,1.000(P),4.61(T),0.0000(T),0.07,2.330539,4.52,-1.64,0.397000,-0.070000,-0.446000,0.883000,0.524000,0.000000,9.9134
synonymous_variant,PCDHB15,SILENT,NM_018935.3:p.Ala475Ala/c.1425C>A,gcC/gcA,LOW,COSM149935(2),0.252396,0.5258,rs652104,,,,,,chr5,140626571,140626571,C,A,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala475Ala/c.1425C>A|787|PCDHB15|protein_coding|CODING|NM_018935.3|1|1),"H1ESC:H3K36me3,H1ESC:H3K9me3",,,,0.2904,0.2911,0.2316,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHB15,MISSENSE,NM_018935.3:p.Arg494Gln/c.1481G>A,cGg/cAg,MODERATE,COSM4159542(1),0.649561,0.6597,rs618096,1(T),0.007(B),-0.815(N),-0.9392(T),,chr5,140626627,140626627,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg494Gln/c.1481G>A|787|PCDHB15|protein_coding|CODING|NM_018935.3|1|1),"H1ESC:H3K36me3,CD4:H3K79me3,H1ESC:H3K9me3",,,,0.5593,0.6326,0.5497,,,,,,1.000(P),0.19(T),0.0000(T),0.036,-2.005608,4.62,-7.24,-2.572000,-1.231000,-2.069000,0.011000,0.000000,0.000000,0.8001
synonymous_variant,PCDHB15,SILENT,NM_018935.3:p.Leu541Leu/c.1621C>T,Ctg/Ttg,LOW,COSM3760995(1),0.215855,0.0992,rs3096081,,,,,,chr5,140626767,140626767,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu541Leu/c.1621C>T|787|PCDHB15|protein_coding|CODING|NM_018935.3|1|1),"H1ESC:H3K36me3,CD4:H3K79me3,H1ESC:H3K9me3",,,,0.1656,0.1499,0.1571,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHB15,SILENT,NM_018935.3:p.Arg548Arg/c.1644A>C,cgA/cgC,LOW,COSM3760996(2),0.200879,0.0913,rs3096082,,,,,,chr5,140626790,140626790,A,C,het,synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg548Arg/c.1644A>C|787|PCDHB15|protein_coding|CODING|NM_018935.3|1|1),"H1ESC:H3K36me3,CD4:H3K79me3,H1ESC:H3K9me3",,,,0.1575,0.1441,0.1571,,,,,,,,,,,,,,,,,,,
missense_variant,SLC25A2,MISSENSE,NM_031947.2:p.Val226Ile/c.676G>A,Gtc/Atc,MODERATE,COSM4003348(1),0.127995,0.0645,rs3749780,0.51(T),0.008(B),1.335(L),-1.0976(T),,chr5,140682757,140682757,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val226Ile/c.676G>A|301|SLC25A2|protein_coding|CODING|NM_031947.2|1|1),GM06990:H3K36me3,,,,0.1125,0.1282,0.1978,,,,,0.009259(N),0.237(P),-1.36(T),0.0003(T),0.028,2.228145,3.78,1.89,0.650000,0.526000,3.889000,0.988000,0.732000,1.000000,7.0946
synonymous_variant,SLC25A2,SILENT,NM_031947.2:p.Ala56Ala/c.168C>T,gcC/gcT,LOW,COSM4159543(1),0.515375,0.5873,rs11952797,,,,,,chr5,140683265,140683265,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala56Ala/c.168C>T|301|SLC25A2|protein_coding|CODING|NM_031947.2|1|1),"CD4:H4K20me3,GM06990:H3K36me3",,,,0.592,0.5317,0.6123,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGA1,MISSENSE,NM_018912.2:p.Val152Ile/c.454G>A,Gtc/Atc,MODERATE,,0.934904,0.8938,rs2472647,0.31(T),"0.0,0.0(B,B)",-0.485(N),-1.0280(T),,chr5,140710705,140710705,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val152Ile/c.454G>A|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val152Ile/c.454G>A|823|PCDHGA1|protein_coding|CODING|NM_031993.1|1|1)","HUVEC:H3K27me3,CD4:H3K79me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9346,0.9841,0.9732,,,,,0.004628(N),1.000(P),"0.44,0.44(T,T)",0.0000(T),0.012,0.446421,4.2,0.0755,-0.254000,-0.021000,2.366000,0.374000,0.991000,0.904000,0.6458
synonymous_variant,PCDHGA2,SILENT,NM_018915.3:p.Arg184Arg/c.552G>A,agG/agA,LOW,,0.10643,0.0605,rs6861047,,,,,,chr5,140719090,140719090,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg184Arg/c.552G>A|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg184Arg/c.552G>A|823|PCDHGA2|protein_coding|CODING|NM_032009.2|1|1),intron_variant(MODIFIER|||c.2421+6418G>A|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.1145,0.1124,0.174,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGA2,MISSENSE,NM_018915.3:p.Leu660Val/c.1978C>G,Ctc/Gtc,MODERATE,COSM4159550(1),0.385982,0.5903,rs35592458,0.37(T),"0.182,0.173(B,B)",-0.175(N),-0.9351(T),,chr5,140720516,140720516,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu660Val/c.1978C>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu660Val/c.1978C>G|823|PCDHGA2|protein_coding|CODING|NM_032009.2|1|1),intron_variant(MODIFIER|||c.2421+7844C>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,K562:Nrsf",,,,0.5552,0.4222,0.4722,,,,,0.070227(U),0.000(P),0.55(T),0.0000(T),0.092,-0.127759,5.14,2.01,-0.330000,0.676000,-1.561000,0.007000,0.862000,0.000000,3.4939
missense_variant,PCDHGA2,MISSENSE,NM_018915.3:p.Phe806Leu/c.2416T>C,Ttt/Ctt,MODERATE,COSM3760998(1),0.0445288,0.001,rs66823521,0.92(T),"0.002,0.001(B,B)",-1.275(N),-1.0531(T),,chr5,140720954,140720954,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe806Leu/c.2416T>C|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe806Leu/c.2416T>C|823|PCDHGA2|protein_coding|CODING|NM_032009.2|1|1),intron_variant(MODIFIER|||c.2421+8282T>C|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.0235,0.085,0.1292,,,,,0.554274(N),1.000(P),0.96(T),0.0003(T),0.079,-1.018508,3.35,-0.876,0.402000,-0.250000,0.938000,0.030000,0.004000,0.003000,1.4049
missense_variant,PCDHGA3,MISSENSE,NM_018916.3:p.Pro79Ser/c.235C>T,Ccg/Tcg,MODERATE,COSM3761000(1),0.0429313,0,rs11575947,0.52(T),"0.013,0.026(B,B)",1.85(L),-1.0294(T),,chr5,140723835,140723835,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro79Ser/c.235C>T|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro79Ser/c.235C>T|829|PCDHGA3|protein_coding|CODING|NM_032011.1|1|1),intron_variant(MODIFIER|||c.2421+11163C>T|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+2873C>T|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1)","HUVEC:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0235,0.0793,0.1272,,,,,0.681803(U),1.000(P),1.16(T),0.0009(T),0.014,-1.289463,5.65,1.48,0.655000,0.773000,-1.107000,0.032000,0.053000,0.000000,1.9256
missense_variant,PCDHGA3,MISSENSE,NM_018916.3:p.Ala743Val/c.2228C>T,gCg/gTg,MODERATE,,0.540935,0.3264,rs7736541,1(T),"0.001,0.0(B,B)",-3.215(N),-0.9448(T),,chr5,140725828,140725828,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala743Val/c.2228C>T|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala743Val/c.2228C>T|829|PCDHGA3|protein_coding|CODING|NM_032011.1|1|1),intron_variant(MODIFIER|||c.2421+13156C>T|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+4866C>T|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H3K79me3,IMR90:H3K36me3,H1ESC:H3K9me3",,,,0.3988,0.6297,0.4274,,,,,0.391917(N),0.000(P),1.0(T),0.0000(T),0.012,0.070226,5.33,4.14,-0.360000,0.399000,0.472000,0.605000,0.983000,0.003000,5.5632
missense_variant,PCDHGB1,MISSENSE,NM_018922.2:p.Pro648Ala/c.1942C>G,Ccg/Gcg,MODERATE,,0.00559105,0,rs147767080,0(D),"0.991,0.982(D,D)",3.57(H),-0.0816(T),,chr5,140731769,140731769,C,G,het,"missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro648Ala/c.1942C>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro648Ala/c.1942C>G|810|PCDHGB1|protein_coding|CODING|NM_032095.1|1|1),intron_variant(MODIFIER|||c.2421+19097C>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+10807C>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+5745C>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H3K79me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.0041,0.0029,0.0209,,,,,,1.000(D),0.45(T),0.2427(T),0.302,4.153969,5.22,5.22,0.561000,2.611000,3.075000,0.973000,1.000000,0.993000,18.7509
missense_variant,PCDHGB2,MISSENSE,NM_018923.2:p.Val58Ile/c.172G>A,Gtc/Atc,MODERATE,COSM3761001(1),0.0443291,0,rs13171859,0.24(T),"0.032,0.177(B,B)",1.1(L),-1.0566(T),,chr5,140739874,140739874,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val58Ile/c.172G>A|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val58Ile/c.172G>A|811|PCDHGB2|protein_coding|CODING|NM_032096.1|1|1),intron_variant(MODIFIER|||c.2421+27202G>A|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+18912G>A|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+13850G>A|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+7638G>A|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+2686G>A|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K27me3,HSMM:H3K4me3,IMR90:H3K4me3",,,,0.0235,0.0821,0.1322,,,,,,0.981(P),1.58(T),0.0006(T),0.004,-0.053164,5.11,2.26,0.563000,0.625000,-0.183000,0.026000,0.001000,0.000000,5.7356
missense_variant,PCDHGB3,MISSENSE,NM_018924.2:p.Val28Ala/c.83T>C,gTt/gCt,MODERATE,,1,1,rs6860609,,,,,,chr5,140750044,140750044,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val28Ala/c.83T>C|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val28Ala/c.83T>C|814|PCDHGB3|protein_coding|CODING|NM_032097.1|1|1),intron_variant(MODIFIER|||c.2421+37372T>C|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+29082T>C|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+24020T>C|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+17808T>C|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+12856T>C|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+7921T>C|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+3726T>C|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K27me3,IMR90:H3K4me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGB3,MISSENSE,NM_018924.2:p.Asn389Lys/c.1167C>G,aaC/aaG,MODERATE,,0.559305,0.3274,rs2240697,,,,,,chr5,140751128,140751128,C,G,het,"missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn389Lys/c.1167C>G|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn389Lys/c.1167C>G|814|PCDHGB3|protein_coding|CODING|NM_032097.1|1|1),intron_variant(MODIFIER|||c.2421+38456C>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+30166C>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+25104C>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+18892C>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+13940C>G|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+9005C>G|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+4810C>G|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.4233,0.6326,0.4264,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGA7,MISSENSE,NM_018920.3:p.Glu188Gly/c.563A>G,gAa/gGa,MODERATE,,0.543131,0.3264,rs2072315,1(T),"0.0,0.0(B,B)",-3.27(N),-0.9617(T),,chr5,140763029,140763029,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu188Gly/c.563A>G|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu188Gly/c.563A>G|817|PCDHGA7|protein_coding|CODING|NM_032087.2|1|1),intron_variant(MODIFIER|||c.2421+50357A>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+42067A>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+37005A>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+30793A>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+25841A>G|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+20906A>G|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+16711A>G|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+10653A>G|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+6955A>G|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.4182,0.6254,0.4225,,,,,,0.000(P),2.14(T),0.0000(T),0.085,-0.733271,5.11,4.23,-0.119000,1.290000,1.416000,0.368000,0.908000,0.916000,12.4703
missense_variant,PCDHGB4,MISSENSE,NM_003736.2:p.Phe18Val/c.52T>G,Ttt/Gtt,MODERATE,,0.00539137,0,rs200817766,0.09(T),"0.015,0.01(B,B)",0(N),-1.0508(T),,chr5,140767503,140767503,T,G,het,"missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe18Val/c.52T>G|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe18Val/c.52T>G|803|PCDHGB4|protein_coding|CODING|NM_032098.1|1|1),intron_variant(MODIFIER|||c.2421+54831T>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+46541T>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+41479T>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+35267T>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+30315T>G|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+25380T>G|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+21185T>G|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+15127T>G|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+11429T>G|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2424+2613T>G|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1)","H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,CD4:H3K79me3,IMR90:H3K36me3,NHEK:H3K27me3,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0041,0.0029,0.0199,,,,,,1.000(N),0.86(T),0.0335(T),0.175,0.578561,4.99,0.571,-0.290000,-0.065000,-0.062000,0.067000,0.967000,0.000000,9.4891
missense_variant,PCDHGA8,MISSENSE,NM_032088.1:p.Leu16Arg/c.47T>G,cTg/cGg,MODERATE,,0.164137,0.1319,rs726684,0.01(D),"0.933,0.799(D,P)",3.025(M),-1.0486(T),,chr5,140772427,140772427,T,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu16Arg/c.47T>G|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu16Arg/c.47T>G|820|PCDHGA8|protein_coding|CODING|NM_014004.2|1|1),intron_variant(MODIFIER|||c.2421+59755T>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+51465T>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+46403T>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+40191T>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+35239T>G|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+30304T>G|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+26109T>G|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+20051T>G|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+16353T>G|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2424+7537T>G|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2397+2579T>G|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,H1ESC:H3K9me3",,,,0.1339,0.3329,0.1909,,,,,,0.000(P),0.63(T),0.0000(T),0.364,2.878362,5.04,5.04,0.533000,1.910000,4.361000,0.718000,1.000000,1.000000,10.3989
synonymous_variant,PCDHGA8,SILENT,NM_032088.1:p.Asp636Asp/c.1908T>C,gaT/gaC,LOW,,0.999401,0.999,rs4912749,,,,,,chr5,140774288,140774288,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp636Asp/c.1908T>C|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp636Asp/c.1908T>C|820|PCDHGA8|protein_coding|CODING|NM_014004.2|1|1),intron_variant(MODIFIER|||c.2421+61616T>C|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+53326T>C|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+48264T>C|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+42052T>C|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+37100T>C|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+32165T>C|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+27970T>C|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+21912T>C|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+18214T>C|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2424+9398T>C|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2397+4440T>C|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H3K79me3,IMR90:H3K36me3,NHEK:H3K27me3,K562:Nrsf",,,,1,0.9971,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHGA9,SILENT,NM_018921.2:p.Asp359Asp/c.1077C>T,gaC/gaT,LOW,,0.541733,0.3274,rs1363448,,,,,,chr5,140783596,140783596,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp359Asp/c.1077C>T|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp359Asp/c.1077C>T|828|PCDHGA9|protein_coding|CODING|NM_032089.1|1|1),intron_variant(MODIFIER|||c.2421+70924C>T|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+62634C>T|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+57572C>T|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+51360C>T|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+46408C>T|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+41473C>T|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+37278C>T|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+31220C>T|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+27522C>T|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2424+18706C>T|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2397+13748C>T|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2424+8792C>T|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2397+3505C>T|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.4233,0.6182,0.4235,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGA10,MISSENSE,NM_018913.2:p.Ile89Val/c.265A>G,Atc/Gtc,MODERATE,,0.55611,0.3254,rs4912751,1(T),"0.001,0.002(B,B)",-1.095(N),-0.9716(T),,chr5,140793007,140793007,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile89Val/c.265A>G|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile89Val/c.265A>G|850|PCDHGA10|protein_coding|CODING|NM_032090.1|1|1),intron_variant(MODIFIER|||c.2421+80335A>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+72045A>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+66983A>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+60771A>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+55819A>G|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+50884A>G|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+46689A>G|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+40631A>G|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+36933A>G|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2424+28117A>G|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2397+23159A>G|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2424+18203A>G|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2397+12916A>G|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2424+8064A>G|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2418+2820A>G|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1)","NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,HSMM:H3K36me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K27me3,NHEK:H3K4me2,GM12878:H3K4me2,GM12878:H2AZ",,,,0.4243,0.6239,0.4245,,,,,,0.000(P),1.78(T),0.0000(T),0.012,-1.001608,5.89,2.76,-0.226000,0.352000,-2.080000,0.750000,1.000000,0.000000,10.6926
synonymous_variant,PCDHGB7,SILENT,NM_018927.3:p.Val68Val/c.204G>T,gtG/gtT,LOW,,0.540935,0.3244,rs2015825,,,,,,chr5,140797630,140797630,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val68Val/c.204G>T|808|PCDHGB7|protein_coding|CODING|NM_032101.2|1|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val68Val/c.204G>T|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),intron_variant(MODIFIER|||c.2422-76744G>T|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2424+76668G>T|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+71606G>T|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+65394G>T|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+60442G>T|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+55507G>T|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+51312G>T|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+45254G>T|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+41556G>T|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2424+32740G>T|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2397+27782G>T|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2424+22826G>T|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2397+17539G>T|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2424+12687G>T|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2418+7443G>T|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2436+2452G>T|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1)","H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,CD4:H3K79me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K27me3,NHEK:H3K4me2,HSMM:H3K4me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4243,0.6182,0.4225,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGB7,MISSENSE,NM_018927.3:p.Val405Leu/c.1213G>C,Gta/Cta,MODERATE,,0.0866613,0.0367,rs17208397,0.33(T),"0.261,0.105(B,B)",1.815(L),-1.0651(T),,chr5,140798639,140798639,G,C,het,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val405Leu/c.1213G>C|808|PCDHGB7|protein_coding|CODING|NM_032101.2|1|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val405Leu/c.1213G>C|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),upstream_gene_variant(MODIFIER||1898||935|PCDHGA11|protein_coding|CODING|NM_018914.2||1),upstream_gene_variant(MODIFIER||1898||837|PCDHGA11|protein_coding|CODING|NM_032091.1||1),upstream_gene_variant(MODIFIER||1898||750|PCDHGA11|protein_coding|CODING|NM_032092.1||1),intron_variant(MODIFIER|||c.2422-75735G>C|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2425-75735G>C|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2424+72615G>C|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2409+66403G>C|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2514+61451G>C|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2421+56516G>C|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2421+52321G>C|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2415+46263G>C|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2424+42565G>C|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2424+33749G>C|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2397+28791G>C|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2424+23835G>C|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2397+18548G>C|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2424+13696G>C|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2418+8452G>C|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2436+3461G>C|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,CD4:H3K79me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.0787,0.1081,0.1779,,,,,0.010477(U),0.000(P),0.7(T),0.0003(T),0.047,1.088102,5.31,2.47,0.561000,1.478000,0.657000,0.995000,0.950000,0.233000,7.4728
synonymous_variant,PCDHGC3,SILENT,NM_002588.3:p.Ala194Ala/c.582G>C,gcG/gcC,LOW,,0.201078,0.1508,rs2075661,,,,,,chr5,140856265,140856265,G,C,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala194Ala/c.582G>C|934|PCDHGC3|protein_coding|CODING|NM_002588.3|1|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala194Ala/c.582G>C|863|PCDHGC3|protein_coding|CODING|NM_032402.1|1|1),intron_variant(MODIFIER|||c.2422-18109G>C|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2425-18109G>C|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2425-18109G>C|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2410-18109G>C|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2515-18109G>C|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2422-18109G>C|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2422-18109G>C|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2416-18109G>C|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2425-18109G>C|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2425-18109G>C|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2398-18109G>C|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2425-18109G>C|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2398-18109G>C|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2425-18109G>C|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2419-18109G>C|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2437-18109G>C|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1),intron_variant(MODIFIER|||c.2416-18109G>C|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),intron_variant(MODIFIER|||c.1879-18109G>C|750|PCDHGA11|protein_coding|CODING|NM_032092.1|1|1),intron_variant(MODIFIER|||c.2434-18109G>C|935|PCDHGA11|protein_coding|CODING|NM_018914.2|1|1),intron_variant(MODIFIER|||c.2425-18109G>C|932|PCDHGA12|protein_coding|CODING|NM_003735.2|1|1),intron_variant(MODIFIER|||c.30+552G>C|134|PCDHGC3|protein_coding|CODING|NM_032403.2|1|1)","CD4:H3K9me1,NHEK:H3K9ac,H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,NHEK:H3K4me2,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.1554,0.3444,0.2087,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHGC3,SILENT,NM_002588.3:p.Phe705Phe/c.2115T>C,ttT/ttC,LOW,,0.554313,0.3264,rs1423148,,,,,,chr5,140857798,140857798,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe705Phe/c.2115T>C|934|PCDHGC3|protein_coding|CODING|NM_002588.3|1|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe705Phe/c.2115T>C|863|PCDHGC3|protein_coding|CODING|NM_032402.1|1|1),intron_variant(MODIFIER|||c.2422-16576T>C|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2425-16576T>C|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2425-16576T>C|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2410-16576T>C|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2515-16576T>C|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2422-16576T>C|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2422-16576T>C|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2416-16576T>C|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2425-16576T>C|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2425-16576T>C|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2398-16576T>C|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2425-16576T>C|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2398-16576T>C|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2425-16576T>C|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2419-16576T>C|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2437-16576T>C|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1),intron_variant(MODIFIER|||c.2416-16576T>C|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),intron_variant(MODIFIER|||c.1879-16576T>C|750|PCDHGA11|protein_coding|CODING|NM_032092.1|1|1),intron_variant(MODIFIER|||c.2434-16576T>C|935|PCDHGA11|protein_coding|CODING|NM_018914.2|1|1),intron_variant(MODIFIER|||c.2425-16576T>C|932|PCDHGA12|protein_coding|CODING|NM_003735.2|1|1),intron_variant(MODIFIER|||c.30+2085T>C|134|PCDHGC3|protein_coding|CODING|NM_032403.2|1|1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HMEC:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.4254,0.6182,0.4225,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCDHGC5,SILENT,NM_018929.2:p.Leu66Leu/c.196T>C,Ttg/Ctg,LOW,,0.192891,0.129,rs1002519,,,,,,chr5,140869003,140869003,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu66Leu/c.196T>C|944|PCDHGC5|protein_coding|CODING|NM_018929.2|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu66Leu/c.196T>C|878|PCDHGC5|protein_coding|CODING|NM_032407.1|1|1),downstream_gene_variant(MODIFIER||1647||871|PCDHGC4|protein_coding|CODING|NM_032406.1||1),intron_variant(MODIFIER|||c.2422-5371T>C|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2425-5371T>C|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2425-5371T>C|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2410-5371T>C|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2515-5371T>C|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2422-5371T>C|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2422-5371T>C|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2416-5371T>C|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2425-5371T>C|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2425-5371T>C|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2398-5371T>C|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2425-5371T>C|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2398-5371T>C|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2425-5371T>C|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2419-5371T>C|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2437-5371T>C|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1),intron_variant(MODIFIER|||c.2416-5371T>C|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),intron_variant(MODIFIER|||c.1879-5371T>C|750|PCDHGA11|protein_coding|CODING|NM_032092.1|1|1),intron_variant(MODIFIER|||c.2434-5371T>C|935|PCDHGA11|protein_coding|CODING|NM_018914.2|1|1),intron_variant(MODIFIER|||c.2425-5371T>C|932|PCDHGA12|protein_coding|CODING|NM_003735.2|1|1),intron_variant(MODIFIER|||c.31-5371T>C|134|PCDHGC3|protein_coding|CODING|NM_032403.2|1|1),intron_variant(MODIFIER|||c.2431-5371T>C|934|PCDHGC3|protein_coding|CODING|NM_002588.3|1|1),intron_variant(MODIFIER|||c.2442+1821T>C|938|PCDHGC4|protein_coding|CODING|NM_018928.2|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1933,0.366,0.2296,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGC5,MISSENSE,NM_018929.2:p.Asp570Gly/c.1709A>G,gAc/gGc,MODERATE,,0.186901,0.129,rs2074912,0.52(T),"0.0,0.0(B,B)",0.025(N),-0.9680(T),,chr5,140870516,140870516,A,G,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp570Gly/c.1709A>G|944|PCDHGC5|protein_coding|CODING|NM_018929.2|1|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp570Gly/c.1709A>G|878|PCDHGC5|protein_coding|CODING|NM_032407.1|1|1),intron_variant(MODIFIER|||c.2422-3858A>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2425-3858A>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2425-3858A>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2410-3858A>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2515-3858A>G|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2422-3858A>G|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2422-3858A>G|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2416-3858A>G|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2425-3858A>G|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2425-3858A>G|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2398-3858A>G|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2425-3858A>G|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2398-3858A>G|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2425-3858A>G|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2419-3858A>G|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2437-3858A>G|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1),intron_variant(MODIFIER|||c.2416-3858A>G|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),intron_variant(MODIFIER|||c.1879-3858A>G|750|PCDHGA11|protein_coding|CODING|NM_032092.1|1|1),intron_variant(MODIFIER|||c.2434-3858A>G|935|PCDHGA11|protein_coding|CODING|NM_018914.2|1|1),intron_variant(MODIFIER|||c.2425-3858A>G|932|PCDHGA12|protein_coding|CODING|NM_003735.2|1|1),intron_variant(MODIFIER|||c.31-3858A>G|134|PCDHGC3|protein_coding|CODING|NM_032403.2|1|1),intron_variant(MODIFIER|||c.2431-3858A>G|934|PCDHGC3|protein_coding|CODING|NM_002588.3|1|1),intron_variant(MODIFIER|||c.2442+3334A>G|938|PCDHGC4|protein_coding|CODING|NM_018928.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1595,0.3545,0.2127,,,,,0.000019(N),1.000(P),0.8(T),0.0000(T),0.029,-0.760117,5.45,5.45,-0.119000,1.550000,2.437000,0.992000,0.145000,0.978000,6.1051
synonymous_variant,PCDHGC5,SILENT,NM_018929.2:p.Ala714Ala/c.2142G>T,gcG/gcT,LOW,COSM4003362(1),0.186701,0.129,rs918558,,,,,,chr5,140870949,140870949,G,T,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala714Ala/c.2142G>T|944|PCDHGC5|protein_coding|CODING|NM_018929.2|1|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala714Ala/c.2142G>T|878|PCDHGC5|protein_coding|CODING|NM_032407.1|1|1),intron_variant(MODIFIER|||c.2422-3425G>T|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2425-3425G>T|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2425-3425G>T|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2410-3425G>T|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2515-3425G>T|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2422-3425G>T|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2422-3425G>T|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2416-3425G>T|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2425-3425G>T|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2425-3425G>T|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2398-3425G>T|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2425-3425G>T|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2398-3425G>T|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2425-3425G>T|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2419-3425G>T|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2437-3425G>T|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1),intron_variant(MODIFIER|||c.2416-3425G>T|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),intron_variant(MODIFIER|||c.1879-3425G>T|750|PCDHGA11|protein_coding|CODING|NM_032092.1|1|1),intron_variant(MODIFIER|||c.2434-3425G>T|935|PCDHGA11|protein_coding|CODING|NM_018914.2|1|1),intron_variant(MODIFIER|||c.2425-3425G>T|932|PCDHGA12|protein_coding|CODING|NM_003735.2|1|1),intron_variant(MODIFIER|||c.31-3425G>T|134|PCDHGC3|protein_coding|CODING|NM_032403.2|1|1),intron_variant(MODIFIER|||c.2431-3425G>T|934|PCDHGC3|protein_coding|CODING|NM_002588.3|1|1),intron_variant(MODIFIER|||c.2443-3425G>T|938|PCDHGC4|protein_coding|CODING|NM_018928.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1585,0.3545,0.2127,,,,,,,,,,,,,,,,,,,
missense_variant,PCDHGC5,MISSENSE,NM_032407.1:p.Glu873Gly/c.2618A>G,gAa/gGa,MODERATE,,0.186901,0.129,rs17208425,,,,,,chr5,140871425,140871425,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu873Gly/c.2618A>G|878|PCDHGC5|protein_coding|CODING|NM_032407.1|1|1),intron_variant(MODIFIER|||c.2422-2949A>G|931|PCDHGA1|protein_coding|CODING|NM_018912.2|1|1),intron_variant(MODIFIER|||c.2425-2949A>G|932|PCDHGA2|protein_coding|CODING|NM_018915.3|1|1),intron_variant(MODIFIER|||c.2425-2949A>G|932|PCDHGA3|protein_coding|CODING|NM_018916.3|1|1),intron_variant(MODIFIER|||c.2410-2949A>G|927|PCDHGB1|protein_coding|CODING|NM_018922.2|1|1),intron_variant(MODIFIER|||c.2515-2949A>G|962|PCDHGA4|protein_coding|CODING|NM_018917.3|1|1),intron_variant(MODIFIER|||c.2422-2949A>G|931|PCDHGB2|protein_coding|CODING|NM_018923.2|1|1),intron_variant(MODIFIER|||c.2422-2949A>G|931|PCDHGA5|protein_coding|CODING|NM_018918.2|1|1),intron_variant(MODIFIER|||c.2416-2949A>G|929|PCDHGB3|protein_coding|CODING|NM_018924.2|1|1),intron_variant(MODIFIER|||c.2425-2949A>G|932|PCDHGA6|protein_coding|CODING|NM_018919.2|1|1),intron_variant(MODIFIER|||c.2425-2949A>G|932|PCDHGA7|protein_coding|CODING|NM_018920.3|1|1),intron_variant(MODIFIER|||c.2398-2949A>G|923|PCDHGB4|protein_coding|CODING|NM_003736.2|1|1),intron_variant(MODIFIER|||c.2425-2949A>G|932|PCDHGA8|protein_coding|CODING|NM_032088.1|1|1),intron_variant(MODIFIER|||c.2398-2949A>G|923|PCDHGB5|protein_coding|CODING|NM_018925.2|1|1),intron_variant(MODIFIER|||c.2425-2949A>G|932|PCDHGA9|protein_coding|CODING|NM_018921.2|1|1),intron_variant(MODIFIER|||c.2419-2949A>G|930|PCDHGB6|protein_coding|CODING|NM_018926.2|1|1),intron_variant(MODIFIER|||c.2437-2949A>G|936|PCDHGA10|protein_coding|CODING|NM_018913.2|1|1),intron_variant(MODIFIER|||c.2416-2949A>G|929|PCDHGB7|protein_coding|CODING|NM_018927.3|1|1),intron_variant(MODIFIER|||c.1879-2949A>G|750|PCDHGA11|protein_coding|CODING|NM_032092.1|1|1),intron_variant(MODIFIER|||c.2434-2949A>G|935|PCDHGA11|protein_coding|CODING|NM_018914.2|1|1),intron_variant(MODIFIER|||c.2425-2949A>G|932|PCDHGA12|protein_coding|CODING|NM_003735.2|1|1),intron_variant(MODIFIER|||c.31-2949A>G|134|PCDHGC3|protein_coding|CODING|NM_032403.2|1|1),intron_variant(MODIFIER|||c.2431-2949A>G|934|PCDHGC3|protein_coding|CODING|NM_002588.3|1|1),intron_variant(MODIFIER|||c.2443-2949A>G|938|PCDHGC4|protein_coding|CODING|NM_018928.2|1|1),intron_variant(MODIFIER|||c.2460+158A>G|944|PCDHGC5|protein_coding|CODING|NM_018929.2|1|1)","HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM12878:H3K4me2",,,,0.1595,0.3545,0.2127,,,,,,,,,,,,,,,,,,,
synonymous_variant,HDAC3,SILENT,NM_003883.3:p.Gln55Gln/c.165A>G,caA/caG,LOW,COSM3761008(2),0.639776,0.3462,rs2530223,,,,,,chr5,141014494,141014494,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln55Gln/c.165A>G|428|HDAC3|protein_coding|CODING|NM_003883.3|3|1),"H1ESC:H3K36me3,GM12878:H3K4me3,K562:H3K4me1,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.6411,0.6945,0.5726,,,,,,,,,,,,,,,,,,,
synonymous_variant,FCHSD1,SILENT,NM_033449.2:p.Leu22Leu/c.66G>A,ctG/ctA,LOW,,0.0263578,0,rs17287002,,,,,,chr5,141030640,141030640,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu22Leu/c.66G>A|690|FCHSD1|protein_coding|CODING|NM_033449.2|2|1),"K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HepG2:H3K4me3,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0112,0.0519,0.0805,,,,,,,,,,,,,,,,,,,
missense_variant,ARAP3,MISSENSE,NM_022481.5:p.Thr1428Pro/c.4282A>C,Aca/Cca,MODERATE,COSM32578(3),0.0261581,0,rs61749636,0.3(T),"0.0,0.0,0.0(B,B,B)",0.345(N),-1.0635(T),,chr5,141033870,141033870,T,G,het,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr1428Pro/c.4282A>C|1544|ARAP3|protein_coding|CODING|NM_022481.5|33|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3",,,,0.0112,0.0519,0.0795,,,,,0.330342(N),1.000(N),"0.89,0.89,0.89(T,T,T)",0.0024(T),0.056,-0.640433,4.01,0.00808,0.533000,0.002000,0.295000,0.003000,0.000000,0.000000,6.0483
synonymous_variant,ARAP3,SILENT,NM_022481.5:p.Ala1201Ala/c.3603T>C,gcT/gcC,LOW,COSM149956(1),0.48143,0.3889,rs7703648,,,,,,chr5,141036337,141036337,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1201Ala/c.3603T>C|1544|ARAP3|protein_coding|CODING|NM_022481.5|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.319,0.4885,0.4314,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARAP3,SILENT,NM_022481.5:p.Pro135Pro/c.405T>C,ccT/ccC,LOW,COSM1754077(3),0.783347,0.6052,rs417503,,,,,,chr5,141059649,141059649,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro135Pro/c.405T>C|1544|ARAP3|protein_coding|CODING|NM_022481.5|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.7485,0.8112,0.7107,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARAP3,SILENT,NM_022481.5:p.Leu62Leu/c.186A>G,ctA/ctG,LOW,COSM3761012(2),0.465655,0.4683,rs11167756,,,,,,chr5,141059868,141059868,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu62Leu/c.186A>G|1544|ARAP3|protein_coding|CODING|NM_022481.5|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,H1ESC:H3K4me1,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.5041,0.4942,0.4274,,,,,,,,,,,,,,,,,,,
missense_variant,KIAA0141,MISSENSE,NM_001142603.2:p.Ala247Thr/c.739G>A,Gct/Act,MODERATE,,0.163139,0.1329,rs351260,0.13(T),0.227(B),3.26(M),-1.0671(T),,chr5,141309824,141309824,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala247Thr/c.739G>A|515|KIAA0141|protein_coding|CODING|NM_001142603.2|7|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala247Thr/c.739G>A|515|KIAA0141|protein_coding|CODING|NM_014773.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1984,0.2161,0.3062,,,,,0.001326(N),0.979(P),"0.53,0.53,0.04(T,T,T)",0.0000(T),0.292,2.258234,4.86,3.97,0.455000,1.243000,2.644000,0.991000,0.999000,0.998000,9.3661
synonymous_variant,PCDH12,SILENT,NM_016580.3:p.Pro1084Pro/c.3252A>G,ccA/ccG,LOW,,0.991813,1,rs105633,,,,,,chr5,141325249,141325249,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1084Pro/c.3252A>G|1184|PCDH12|protein_coding|CODING|NM_016580.3|4|1),"GM12878:H3K36me3,H1ESC:DNase1,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.9949,0.9885,0.9732,,,,,,,,,,,,,,,,,,,
missense_variant,PCDH12,MISSENSE,NM_016580.3:p.Ser640Asn/c.1919G>A,aGt/aAt,MODERATE,,0.14996,0.127,rs164515,0.26(T),0.002(B),1.32(L),-1.0973(T),,chr5,141335498,141335498,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser640Asn/c.1919G>A|1184|PCDH12|protein_coding|CODING|NM_016580.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1933,0.196,0.2664,,,,,0.316263(N),1.000(P),-1.7(D),0.0000(T),0.004,-1.564822,5.38,2.7,-0.136000,0.424000,0.609000,0.036000,0.001000,0.000000,4.9107
synonymous_variant,PCDH12,SILENT,NM_016580.3:p.Ala64Ala/c.192T>C,gcT/gcC,LOW,,0.752396,0.9732,rs164077,,,,,,chr5,141337225,141337225,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala64Ala/c.192T>C|1184|PCDH12|protein_coding|CODING|NM_016580.3|1|1),"IMR90:H3K27me3,HUVEC:H3K4me1,HepG2:H3K27me3",,,,0.8231,0.8401,0.7763,,,,,,,,,,,,,,,,,,,
synonymous_variant,GNPDA1,SILENT,NM_005471.4:p.Arg23Arg/c.69C>T,cgC/cgT,LOW,COSM149957(3),0.544728,0.625,rs164080,,,,,,chr5,141391532,141391532,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg23Arg/c.69C>T|289|GNPDA1|protein_coding|CODING|NM_005471.4|2|1),"GM12878:H3K27me3,K562:CTCF,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.455,0.4352,0.4612,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP26,SILENT,NM_015071.4:p.Gly415Gly/c.1245T>G,ggT/ggG,LOW,,0.888179,0.505,rs2270068,,,,-1.0101(T),,chr5,142421415,142421415,T,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly415Gly/c.1245T>G|759|ARHGAP26|protein_coding|CODING|NM_001135608.1|14|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly415Gly/c.1245T>G|814|ARHGAP26|protein_coding|CODING|NM_015071.4|14|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9836,0.9352,1,,,,,,0.000(P),,0.0000(T),.,1.546878,6.17,4.33,-0.121000,1.643000,0.596000,0.996000,1.000000,1.000000,10.211
synonymous_variant,NR3C1,SILENT,NM_001024094.1:p.Asn767Asn/c.2301T>C,aaT/aaC,LOW,,0.11881,0.0873,rs6196,,,,,,chr5,142661490,142661490,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn766Asn/c.2298T>C|777|NR3C1|protein_coding|CODING|NM_000176.2|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn766Asn/c.2298T>C|777|NR3C1|protein_coding|CODING|NM_001018074.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn766Asn/c.2298T>C|777|NR3C1|protein_coding|CODING|NM_001018075.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn766Asn/c.2298T>C|777|NR3C1|protein_coding|CODING|NM_001018076.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn766Asn/c.2298T>C|777|NR3C1|protein_coding|CODING|NM_001018077.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn767Asn/c.2301T>C|778|NR3C1|protein_coding|CODING|NM_001024094.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn740Asn/c.2220T>C|751|NR3C1|protein_coding|CODING|NM_001204258.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn681Asn/c.2043T>C|692|NR3C1|protein_coding|CODING|NM_001204259.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn677Asn/c.2031T>C|688|NR3C1|protein_coding|CODING|NM_001204260.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn669Asn/c.2007T>C|680|NR3C1|protein_coding|CODING|NM_001204261.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn451Asn/c.1353T>C|462|NR3C1|protein_coding|CODING|NM_001204262.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn436Asn/c.1308T>C|447|NR3C1|protein_coding|CODING|NM_001204263.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn431Asn/c.1293T>C|442|NR3C1|protein_coding|CODING|NM_001204264.1|9|1),intron_variant(MODIFIER|||c.2181+643T>C|742|NR3C1|protein_coding|CODING|NM_001020825.1|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0286,0.1066,0.1491,,,,,,,,,,,,,,,,,,,
missense_variant,GRXCR2,MISSENSE,NM_001080516.1:p.Leu181Phe/c.543A>C,ttA/ttC,MODERATE,,0.754393,0.7262,rs2569006,1(T),0.0(B),-1.01(N),-0.9853(T),,chr5,145246085,145246085,T,G,het,missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu181Phe/c.543A>C|248|GRXCR2|protein_coding|CODING|NM_001080516.1|2|1),HUVEC:H3K27me3,,,,0.773,0.732,0.5845,,,,,0.245277(N),1.000(P),0.43(T),0.0000(T),0.036,-0.084576,5.02,0.0768,-0.358000,-0.154000,-0.877000,0.026000,0.038000,0.000000,6.4314
missense_variant,SH3RF2,MISSENSE,NM_152550.3:p.Arg267Cys/c.799C>T,Cgc/Tgc,MODERATE,COSM4159598(2),0.609026,0.7212,rs758037,0.06(T),0.0(B),0.345(N),-1.0829(T),,chr5,145393364,145393364,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg267Cys/c.799C>T|729|SH3RF2|protein_coding|CODING|NM_152550.3|5|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7832,0.5692,0.6312,,,,,0.223914(N),1.000(P),"3.58,3.58(T,T)",0.0000(T),0.048,1.233918,5.32,1.22,-0.230000,-0.025000,0.651000,0.671000,0.001000,0.001000,5.6818
missense_variant,SH3RF2,MISSENSE,NM_152550.3:p.Trp592Arg/c.1774T>C,Tgg/Cgg,MODERATE,COSM4159600(1),0.980831,1,rs2962525,0.78(T),"0.0,0.0(B,B)",-1.905(N),-0.9943(T),,chr5,145439647,145439647,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp592Arg/c.1774T>C|729|SH3RF2|protein_coding|CODING|NM_152550.3|9|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,,,,,0.000096(N),1.000(P),"2.44,2.44(T,T)",0.0000(T),0.211,-2.444055,5.73,3.16,-1.513000,0.387000,0.689000,0.000000,0.546000,0.999000,8.4465
missense_variant,SH3RF2,MISSENSE,NM_152550.3:p.Gly710Ala/c.2129G>C,gGc/gCc,MODERATE,COSM4159601(1),0.630192,0.7212,rs1056149,0.86(T),"0.005,0.003(B,B)",0.145(N),-1.0063(T),,chr5,145442203,145442203,G,C,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly710Ala/c.2129G>C|729|SH3RF2|protein_coding|CODING|NM_152550.3|10|1),"GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7791,0.5937,0.6481,,,,,0.648092(N),0.923(P),"2.36,2.36(T,T)",0.0000(T),0.072,0.712587,5.36,3.5,0.313000,1.248000,2.639000,0.543000,0.811000,0.986000,12.229
synonymous_variant,LARS,SILENT,NM_020117.9:p.Asn963Asn/c.2889C>T,aaC/aaT,LOW,,0.0425319,0,rs11540216,,,,,,chr5,145506100,145506100,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn963Asn/c.2889C>T|1176|LARS|protein_coding|CODING|NM_020117.9|28|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0317,0.0726,,,,,,,,,,,,,,,,,,,
missense_variant,LARS,MISSENSE,NM_020117.9:p.Ala860Thr/c.2578G>A,Gct/Act,MODERATE,,0.00359425,0,rs112912805,0.27(T),"0.077,0.007,0.013(B,B,B)",1.655(L),-1.0947(T),,chr5,145509631,145509631,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala860Thr/c.2578G>A|1176|LARS|protein_coding|CODING|NM_020117.9|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0,0.0099,,,,,0.000102(N),1.000(D),"2.28,2.28,2.28,2.28(T,T,T,T)",0.0281(T),0.326,1.804674,5.56,3.65,0.557000,1.322000,3.207000,0.981000,1.000000,1.000000,9.3666
synonymous_variant,RBM27,SILENT,NM_018989.1:p.Lys924Lys/c.2772A>G,aaA/aaG,LOW,,0.162141,0,rs17104362,,,,,,chr5,145650597,145650597,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys924Lys/c.2772A>G|1060|RBM27|protein_coding|CODING|NM_018989.1|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.062,0.0716,,,,,,,,,,,,,,,,,,,
synonymous_variant,TCERG1,SILENT,NM_006706.3:p.Thr976Thr/c.2928G>A,acG/acA,LOW,,0.0391374,0.001,rs12186370,,,,,,chr5,145887453,145887453,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr955Thr/c.2865G>A|1077|TCERG1|protein_coding|CODING|NM_001040006.1|19|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr976Thr/c.2928G>A|1098|TCERG1|protein_coding|CODING|NM_006706.3|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0511,0.085,0.0755,,,,,,,,,,,,,,,,,,,
synonymous_variant,TCERG1,SILENT,NM_006706.3:p.Ser1040Ser/c.3120A>G,tcA/tcG,LOW,,0.980431,1,rs4705103,,,,,,chr5,145890028,145890028,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1019Ser/c.3057A>G|1077|TCERG1|protein_coding|CODING|NM_001040006.1|21|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1040Ser/c.3120A>G|1098|TCERG1|protein_coding|CODING|NM_006706.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9918,0.9726,0.9344,,,,,,,,,,,,,,,,,,,
missense_variant,GPR151,MISSENSE,NM_194251.2:p.Pro40Leu/c.119C>T,cCg/cTg,MODERATE,,0.0425319,0.001,rs17104742,0.67(T),0.999(D),2.045(M),-1.0306(T),,chr5,145895558,145895558,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro40Leu/c.119C>T|419|GPR151|protein_coding|CODING|NM_194251.2|1|1),,,,,0.0501,0.085,0.0755,,,,,0.000000(D),1.000(D),1.22(T),0.0127(T),0.253,2.236920,5.9,4.1,-0.293000,0.814000,5.416000,0.135000,0.117000,1.000000,10.3644
synonymous_variant,STK32A,SILENT,NM_001287740.1:p.Ala3Ala/c.9G>C,gcG/gcC,LOW,,0.520367,0.3135,rs4705132,,,,,,chr5,146619206,146619206,G,C,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala3Ala/c.9G>C|396|STK32A|protein_coding|CODING|NM_001112724.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala3Ala/c.9G>C|407|STK32A|protein_coding|CODING|NM_001287740.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala3Ala/c.9G>C|166|STK32A|protein_coding|CODING|NM_145001.3|2|1)",HUVEC:H3K27me3,,,,0.3783,0.732,0.5646,,,,,,,,,,,,,,,,,,,
synonymous_variant,DPYSL3,SILENT,NM_001197294.1:p.Val478Val/c.1434C>T,gtC/gtT,LOW,COSM3761019(1),0.163538,0,rs10515587,,,,-0.9380(T),,chr5,146780273,146780273,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val478Val/c.1434C>T|684|DPYSL3|protein_coding|CODING|NM_001197294.1|10|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val364Val/c.1092C>T|570|DPYSL3|protein_coding|CODING|NM_001387.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3",,,,0.1299,0.1744,0.1541,,,,,,0.000(P),,0.0000(T),.,1.112781,5.53,4.66,0.650000,1.475000,3.402000,0.997000,1.000000,1.000000,6.6299
missense_variant,SPINK5,MISSENSE,NM_001127698.1:p.Asp106Asn/c.316G>A,Gat/Aat,MODERATE,,0.0523163,0.119,rs17860502,0.55(T),"0.009,0.018,0.008,0.012(B,B,B,B)",1.33(L),-1.1701(T),,chr5,147466001,147466001,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp106Asn/c.316G>A|1094|SPINK5|protein_coding|CODING|NM_001127698.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp106Asn/c.316G>A|916|SPINK5|protein_coding|CODING|NM_001127699.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp106Asn/c.316G>A|1064|SPINK5|protein_coding|CODING|NM_006846.3|5|1)",HeLa-S3:DNase1,,,,0.0665,0.062,0.0318,,,,,0.099866(N),0.999(N),"-0.78,-0.78,-0.78,-0.78(T,T,T,T)",0.0017(T),0.031,0.318494,4.6,2.75,0.557000,0.598000,0.168000,0.033000,0.604000,0.006000,7.6462
missense_variant,SPINK5,MISSENSE,NM_001127698.1:p.Asp386Asn/c.1156G>A,Gat/Aat,MODERATE,,0.348243,0.4246,rs2303064,0.3(T),"0.125,0.167,0.258,0.12(B,B,B,B)",1.9(L),-0.9667(T),,chr5,147480080,147480080,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp386Asn/c.1156G>A|1094|SPINK5|protein_coding|CODING|NM_001127698.1|13|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp386Asn/c.1156G>A|916|SPINK5|protein_coding|CODING|NM_001127699.1|13|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp386Asn/c.1156G>A|1064|SPINK5|protein_coding|CODING|NM_006846.3|13|1)",NHEK:H3K36me3,,,,0.3507,0.1614,0.1213,,,,,0.031317(N),1.000(P),"3.58,3.58,3.58,3.58(T,T,T,T)",0.0000(T),0.045,1.476580,4.69,3.82,0.591000,1.349000,1.896000,0.362000,0.164000,0.377000,9.1943
synonymous_variant,SPINK5,SILENT,NM_001127698.1:p.Ala617Ala/c.1851T>C,gcT/gcC,LOW,,0.0539137,0.1141,rs17718737,,,,,,chr5,147492461,147492461,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala617Ala/c.1851T>C|1094|SPINK5|protein_coding|CODING|NM_001127698.1|20|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala617Ala/c.1851T>C|916|SPINK5|protein_coding|CODING|NM_001127699.1|20|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala617Ala/c.1851T>C|1064|SPINK5|protein_coding|CODING|NM_006846.3|20|1)",NHEK:H3K36me3,,,,0.0603,0.0591,0.0318,,,,,,,,,,,,,,,,,,,
missense_variant,SPINK5,MISSENSE,NM_001127698.1:p.Arg711Gln/c.2132G>A,cGg/cAg,MODERATE,COSM4003386(1),0.488419,0.4821,rs3777134,0.5(T),"0.052,0.016,0.103(B,B,B)",0.94(L),-1.0845(T),,chr5,147498019,147498019,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg711Gln/c.2132G>A|1094|SPINK5|protein_coding|CODING|NM_001127698.1|23|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg711Gln/c.2132G>A|916|SPINK5|protein_coding|CODING|NM_001127699.1|23|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg711Gln/c.2132G>A|1064|SPINK5|protein_coding|CODING|NM_006846.3|23|1)",NHEK:H3K36me3,,,,0.5204,0.634,0.5924,,,,,0.490350(N),1.000(P),"3.26,3.26,3.26,3.26(T,T,T,T)",0.0000(T),0.155,0.778056,5.75,2.99,-0.140000,0.907000,0.440000,0.010000,0.148000,0.001000,8.5873
synonymous_variant,SPINK5,SILENT,NM_001127698.1:p.Leu786Leu/c.2358C>T,ctC/ctT,LOW,COSM4003388(1),0.48742,0.4821,rs111174718,,,,,,chr5,147499616,147499616,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu786Leu/c.2358C>T|1094|SPINK5|protein_coding|CODING|NM_001127698.1|25|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu786Leu/c.2358C>T|916|SPINK5|protein_coding|CODING|NM_001127699.1|25|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu786Leu/c.2358C>T|1064|SPINK5|protein_coding|CODING|NM_006846.3|25|1)","H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.5184,0.6311,0.5915,,,,,,,,,,,,,,,,,,,
synonymous_variant,SPINK5,SILENT,NM_001127698.1:p.Gly804Gly/c.2412C>T,ggC/ggT,LOW,COSM4003389(1),0.488419,0.4821,rs33920397,,,,,,chr5,147499670,147499670,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly804Gly/c.2412C>T|1094|SPINK5|protein_coding|CODING|NM_001127698.1|25|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly804Gly/c.2412C>T|916|SPINK5|protein_coding|CODING|NM_001127699.1|25|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly804Gly/c.2412C>T|1064|SPINK5|protein_coding|CODING|NM_006846.3|25|1)","H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.5204,0.634,0.5924,,,,,,,,,,,,,,,,,,,
synonymous_variant,SPINK5,SILENT,NM_001127698.1:p.Ala923Ala/c.2769G>A,gcG/gcA,LOW,COSM4003390(1),0.453275,0.4821,rs3764930,,,,,,chr5,147505116,147505116,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala923Ala/c.2769G>A|1094|SPINK5|protein_coding|CODING|NM_001127698.1|29|1),downstream_gene_variant(MODIFIER||613||916|SPINK5|protein_coding|CODING|NM_001127699.1||1),intron_variant(MODIFIER|||c.2740-170G>A|1064|SPINK5|protein_coding|CODING|NM_006846.3|28|1)",NHEK:H3K36me3,,,,0.5204,0.6225,0.5915,,,,,,,,,,,,,,,,,,,
synonymous_variant,SPINK5,SILENT,NM_001127698.1:p.Gly1033Gly/c.3099T>C,ggT/ggC,LOW,COSM149978(2),0.509185,0.4821,rs2400478,,,,,,chr5,147510866,147510866,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1033Gly/c.3099T>C|1094|SPINK5|protein_coding|CODING|NM_001127698.1|32|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1003Gly/c.3009T>C|1064|SPINK5|protein_coding|CODING|NM_006846.3|31|1)",NHEK:H3K36me3,,,,0.5194,0.6398,0.5924,,,,,,,,,,,,,,,,,,,
missense_variant,SPINK6,MISSENSE,NM_001195290.1:p.Pro36Thr/c.106C>A,Ccc/Acc,MODERATE,COSM4003391(2),0.679313,0.6954,rs12186491,0.04(D),0.999(D),,-0.9340(T),,chr5,147593497,147593497,C,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro36Thr/c.106C>A|80|SPINK6|protein_coding|CODING|NM_001195290.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro36Thr/c.106C>A|80|SPINK6|protein_coding|CODING|NM_205841.3|3|1)",NHEK:H3K36me3,,,,0.8538,0.8833,0.9185,,,,,0.000004(D),0.044(P),"-1.26,-0.84(T,T)",0.0000(T),0.3,2.023750,5.75,5.75,0.655000,2.885000,1.358000,0.399000,0.994000,0.059000,15.8177
synonymous_variant,SH3TC2,SILENT,NM_024577.3:p.Arg529Arg/c.1587T>G,cgT/cgG,LOW,,0.990615,0.999,rs1432794,,,,,,chr5,148407708,148407708,A,C,het,synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg529Arg/c.1587T>G|1288|SH3TC2|protein_coding|CODING|NM_024577.3|11|1),"HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000118336.2,,0.9949,0.9914,0.9662,,,,,,,,,,,,,,,,,,,
missense_variant,PCYOX1L,MISSENSE,NM_024028.3:p.Ala5Pro/c.13G>C,Gcc/Ccc,MODERATE,COSM4159625(1),,,rs2291814,0.05(D),0.137(B),0(N),-0.9106(T),,chr5,148737644,148737644,G,C,het,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala5Pro/c.13G>C|494|PCYOX1L|protein_coding|CODING|NM_024028.3|1|1),5_prime_UTR_variant(MODIFIER||55|c.-55G>C|477|PCYOX1L|protein_coding|CODING|NM_001301054.1|1|1),5_prime_UTR_variant(MODIFIER||55|c.-55G>C|477|PCYOX1L|protein_coding|CODING|NM_001301055.1|1|1),5_prime_UTR_variant(MODIFIER||55|c.-55G>C|418|PCYOX1L|protein_coding|CODING|NM_001301057.1|1|1)","K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,GM12878:Pbx3,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:PolII,GM12878:Cfos,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,,,,,,,,0.612989(N),1.000(P),2.6(T),0.0000(T),0.623,0.773604,5.15,-0.257,-0.372000,-0.069000,0.757000,0.012000,0.023000,0.002000,7.007
missense_variant,ARHGEF37,MISSENSE,NM_001001669.2:p.Met421Leu/c.1261A>C,Atg/Ctg,MODERATE,COSM4159626(1),0.436901,0.5,rs4629585,1(T),0.0(B),-2.19(N),-0.9167(T),,chr5,149001551,149001551,A,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met421Leu/c.1261A>C|675|ARHGEF37|protein_coding|CODING|NM_001001669.2|9|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.5204,0.4769,0.34,,,,,0.000024(N),1.000(P),0.85(T),0.0000(T),0.031,-1.222824,6.17,4.1,-0.121000,0.956000,0.122000,0.242000,1.000000,0.017000,8.8224
missense_variant,PPARGC1B,MISSENSE,NM_133263.3:p.Ala203Pro/c.607G>C,Gct/Cct,MODERATE,,0.109625,0.0625,rs7732671,0.55(T),"0.015,0.007,0.007,0.006,0.009(B,B,B,B,B)",0.55(N),-0.9144(T),,chr5,149212243,149212243,G,C,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala164Pro/c.490G>C|984|PPARGC1B|protein_coding|CODING|NM_001172698.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala139Pro/c.415G>C|959|PPARGC1B|protein_coding|CODING|NM_001172699.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala203Pro/c.607G>C|1023|PPARGC1B|protein_coding|CODING|NM_133263.3|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000002119.1,,0.0685,0.1427,0.0825,,,,,0.858499(N),1.000(P),"2.96,2.96,2.96,2.96(T,T,T,T)",0.0001(T),0.092,-1.100846,5.76,-4.26,-1.622000,-0.413000,-0.005000,0.001000,0.042000,0.004000,1.2698
missense_variant,PPARGC1B,MISSENSE,NM_133263.3:p.Val279Ile/c.835G>A,Gtt/Att,MODERATE,,0.0658946,0.0625,rs17572019,0.51(T),"0.013,0.032,0.013,0.006,0.022(B,B,B,B,B)",1.1(L),-0.9560(T),,chr5,149212471,149212471,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val240Ile/c.718G>A|984|PPARGC1B|protein_coding|CODING|NM_001172698.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val215Ile/c.643G>A|959|PPARGC1B|protein_coding|CODING|NM_001172699.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val279Ile/c.835G>A|1023|PPARGC1B|protein_coding|CODING|NM_133263.3|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0685,0.1254,0.0805,,,,,0.217621(N),1.000(P),"3.08,3.08,3.09,3.08(T,T,T,T)",0.0003(T),0.032,0.142296,5.23,-1.71,-0.152000,-0.150000,1.132000,0.007000,0.004000,0.845000,3.3991
synonymous_variant,PPARGC1B,SILENT,NM_133263.3:p.Arg326Arg/c.978G>T,cgG/cgT,LOW,,0.00878594,0,rs115557257,,,,-1.0395(T),,chr5,149212614,149212614,G,T,het,"synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg287Arg/c.861G>T|984|PPARGC1B|protein_coding|CODING|NM_001172698.1|4|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg262Arg/c.786G>T|959|PPARGC1B|protein_coding|CODING|NM_001172699.1|4|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg326Arg/c.978G>T|1023|PPARGC1B|protein_coding|CODING|NM_133263.3|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0202,0.0149,,,,,,1.000(N),,0.0348(T),.,-1.378899,5.61,2.74,0.655000,0.264000,0.072000,0.105000,0.001000,0.001000,5.3707
missense_variant,SLC26A2,MISSENSE,NM_000112.3:p.Ile574Thr/c.1721T>C,aTt/aCt,MODERATE,,,,rs30832,0.46(T),0.0(B),-0.69(N),-0.9484(T),,chr5,149360877,149360877,T,C,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile574Thr/c.1721T>C|739|SLC26A2|protein_coding|CODING|NM_000112.3|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.002295(N),1.000(P),-2.26(D),0.0000(T),0.007,-2.290533,6.17,4.37,-0.119000,0.476000,1.639000,0.391000,0.095000,0.671000,9.8988
missense_variant,TIGD6,MISSENSE,NM_001243253.1:p.Gln327Arg/c.980A>G,cAg/cGg,MODERATE,,0.667532,0.6954,rs10875553,1(T),0.0(B),-1.51(N),-0.9693(T),,chr5,149374932,149374932,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln327Arg/c.980A>G|521|TIGD6|protein_coding|CODING|NM_001243253.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln327Arg/c.980A>G|521|TIGD6|protein_coding|CODING|NM_030953.3|2|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7014,0.7507,0.7624,,,,,0.002632(N),1.000(P),"1.93,1.93(T,T)",0.0000(T),0.026,-2.955067,3.82,3.82,-0.226000,0.966000,2.151000,0.001000,0.076000,0.024000,9.6208
missense_variant,HMGXB3,MISSENSE,NM_014983.2:p.Ala488Val/c.1463C>T,gCt/gTt,MODERATE,,0.801118,0.6954,rs6579767,0(D),0.0(B),-0.805(N),-1.0102(T),,chr5,149406271,149406271,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala488Val/c.1463C>T|1292|HMGXB3|protein_coding|CODING|NM_014983.2|8|1),splice_region_variant(LOW|||c.1463C>T|1292|HMGXB3|protein_coding|CODING|NM_014983.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6861,0.7896,0.7763,,,,,0.007134(N),1.000(P),,0.0000(T),0.078,0.579606,5.43,3.04,-0.254000,0.347000,0.413000,0.776000,1.000000,0.998000,3.9261
synonymous_variant,CSF1R,SILENT,NM_001288705.1:p.Thr242Thr/c.726C>T,acC/acT,LOW,COSM149992(2),0.38738,0.2113,rs2228422,,,,,,chr5,149457678,149457678,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr242Thr/c.726C>T|972|CSF1R|protein_coding|CODING|NM_001288705.1|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr242Thr/c.726C>T|972|CSF1R|protein_coding|CODING|NM_005211.3|5|1),non_coding_exon_variant(MODIFIER|||n.939C>T||CSF1R||CODING|NR_109969.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5665,0.366,0.5457,,,,,,,,,,,,,,,,,,,
synonymous_variant,CSF1R,SILENT,NM_001288705.1:p.Pro28Pro/c.84T>C,ccT/ccC,LOW,,0.335264,0.0893,rs216123,,,,,,chr5,149460553,149460553,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro28Pro/c.84T>C|972|CSF1R|protein_coding|CODING|NM_001288705.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro28Pro/c.84T>C|972|CSF1R|protein_coding|CODING|NM_005211.3|3|1),non_coding_exon_variant(MODIFIER|||n.297T>C||CSF1R||CODING|NR_109969.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.456,0.353,0.5527,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDGFRB,SILENT,NM_002609.3:p.Pro1084Pro/c.3252A>G,ccA/ccG,LOW,COSM149993(1),0.285343,0.1071,rs246388,,,,,,chr5,149495395,149495395,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1084Pro/c.3252A>G|1106|PDGFRB|protein_coding|CODING|NM_002609.3|23|1),"NH-A:H3K36me3,K562:H3K4me1,IMR90:H3K36me3,NHEK:H3K27me3,K562:ELF1,K562:DNase1",,,,0.3067,0.3184,0.3956,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDGFRB,SILENT,NM_002609.3:p.Leu867Leu/c.2601A>G,ttA/ttG,LOW,COSM149995(2),0.236422,0.1538,rs246395,,,,,,chr5,149499672,149499672,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu867Leu/c.2601A>G|1106|PDGFRB|protein_coding|CODING|NM_002609.3|19|1),"HUVEC:H3K27me3,NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.3344,0.2997,0.2903,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDGFRB,SILENT,NM_002609.3:p.Thr618Thr/c.1854G>A,acG/acA,LOW,COSM449097(2),0.0183706,0.001,rs56072663,,,,,,chr5,149504348,149504348,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr618Thr/c.1854G>A|1106|PDGFRB|protein_coding|CODING|NM_002609.3|13|1),IMR90:H3K36me3,,,,0.0542,0.0173,0.0239,,,,,,,,,,,,,,,,,,,
missense_variant,PDGFRB,MISSENSE,NM_002609.3:p.Glu485Lys/c.1453G>A,Gag/Aag,MODERATE,,0.0107827,0,rs41287110,0.38(T),"0.034,0.034(B,B)",0.69(N),-0.9207(T),,chr5,149509446,149509446,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu485Lys/c.1453G>A|1106|PDGFRB|protein_coding|CODING|NM_002609.3|10|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:Max,HeLa-S3:DNase1,NH-A:H3K36me3,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,HeLa-S3:CTCF,HUVEC:DNase1,K562:USF1,IMR90:H3K36me3,HMEC:CTCF,K562:E2F6,NH-A:CTCF,HepG2:H3K36me3,NHEK:H3K4me2,HMEC:DNase1,K562:H3K4me2,NHEK:DNase1,K562:H2AZ,K562:DNase1",,,,0.0041,0.0216,0.0328,,,,,0.001077(N),0.952(D),-0.98(T),0.0627(T),0.191,2.214386,4.64,3.73,0.462000,2.409000,1.826000,0.940000,0.958000,0.920000,12.5115
missense_variant,CDX1,MISSENSE,NM_001804.2:p.Pro130Arg/c.389C>G,cCg/cGg,MODERATE,COSM4159639(1),0.574481,0.5952,rs2302275,1(T),0.004(B),-2.16(N),-0.9135(T),,chr5,149546828,149546828,C,G,hom,missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro130Arg/c.389C>G|265|CDX1|protein_coding|CODING|NM_001804.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.5286,0.4035,0.4433,,,,,0.000009(N),1.000(P),1.37(T),0.0000(T),0.175,-0.380616,3.73,2.83,-0.676000,0.253000,4.436000,0.884000,0.990000,1.000000,13.2088
synonymous_variant,SLC6A7,SILENT,NM_014228.3:p.Asp398Asp/c.1194T>C,gaT/gaC,LOW,,0.79353,0.6935,rs2240794,,,,,,chr5,149583336,149583336,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp398Asp/c.1194T>C|636|SLC6A7|protein_coding|CODING|NM_014228.3|9|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8067,0.7954,0.7584,,,,,,,,,,,,,,,,,,,
missense_variant,SLC6A7,MISSENSE,NM_014228.3:p.Met514Leu/c.1540A>C,Atg/Ctg,MODERATE,,1,1,rs4705426,1(T),0.0(B),-2.48(N),-0.9403(T),,chr5,149585025,149585025,A,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met514Leu/c.1540A>C|636|SLC6A7|protein_coding|CODING|NM_014228.3|13|1),"K562:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.000021(N),1.000(P),"-0.48,-0.48(T,T)",0.0000(T),0.177,0.422010,5.65,4.77,-0.358000,0.745000,2.224000,0.799000,1.000000,1.000000,11.2381
synonymous_variant,CAMK2A,SILENT,NM_015981.3:p.Asp470Asp/c.1410T>C,gaT/gaC,LOW,COSM4159640(1),0.910743,0.8423,rs2241694,,,,,,chr5,149602608,149602608,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp470Asp/c.1410T>C|489|CAMK2A|protein_coding|CODING|NM_015981.3|18|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp459Asp/c.1377T>C|478|CAMK2A|protein_coding|CODING|NM_171825.2|17|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.816,0.9697,0.9165,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARSI,SILENT,NM_001012301.2:p.Tyr212Tyr/c.636T>C,taT/taC,LOW,,0.998802,0.999,rs6579784,,,,,,chr5,149677851,149677851,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr212Tyr/c.636T>C|569|ARSI|protein_coding|CODING|NM_001012301.2|2|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9957,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,TCOF1,MISSENSE,NM_001135243.1:p.Ala1390Val/c.4169C>T,gCa/gTa,MODERATE,,0.224042,0.2044,rs15251,0.07(T),"0.125,0.125,0.125,0.452,0.125(B,B,B,P,B)",1.39(L),-1.1113(T),,chr5,149776232,149776232,C,T,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala1313Val/c.3938C>T|1411|TCOF1|protein_coding|CODING|NM_000356.3|23|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala1390Val/c.4169C>T|1488|TCOF1|protein_coding|CODING|NM_001135243.1|24|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala1353Val/c.4058C>T|1451|TCOF1|protein_coding|CODING|NM_001135244.1|23|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala1314Val/c.3941C>T|1412|TCOF1|protein_coding|CODING|NM_001135245.1|23|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala1352Val/c.4055C>T|1450|TCOF1|protein_coding|CODING|NM_001195141.1|23|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118615.2,,0.3906,0.2305,0.2972,,,,,0.594858(N),1.000(P),"-0.86,-0.86,-0.86,-0.86,-0.86,-0.86,-0.86,-0.86(T,T,T,T,T,T,T,T)",0.0000(T),0.289,2.833743,3.51,2.64,0.561000,1.067000,3.327000,0.882000,0.094000,0.973000,6.7651
synonymous_variant,NDST1,SILENT,NM_001543.4:p.Thr554Thr/c.1662G>C,acG/acC,LOW,,0.806909,0.7808,rs1290147,,,,,,chr5,149919739,149919739,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr554Thr/c.1662G>C|825|NDST1|protein_coding|CODING|NM_001301063.1|8|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr554Thr/c.1662G>C|882|NDST1|protein_coding|CODING|NM_001543.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8119,0.7233,0.673,,,,,,,,,,,,,,,,,,,
missense_variant,MYOZ3,MISSENSE,NM_001122853.2:p.Ser161Pro/c.481T>C,Tcc/Ccc,MODERATE,,0.994808,1,rs194134,,,-2.605(N),-0.9546(T),,chr5,150051958,150051958,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser161Pro/c.481T>C|251|MYOZ3|protein_coding|CODING|NM_001122853.2|6|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser161Pro/c.481T>C|251|MYOZ3|protein_coding|CODING|NM_133371.4|6|1)","H1ESC:PolII,CD4:H2AZ,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:DNase1,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.998,0.9942,0.9811,,,,,,0.000(P),,0.0000(T),0.078,1.278277,4.91,4.91,-0.215000,1.308000,4.469000,0.982000,1.000000,1.000000,10.7624
missense_variant,ANXA6,MISSENSE,NM_001155.4:p.Arg554Gln/c.1661G>A,cGg/cAg,MODERATE,,,,rs201769474,0.04(D),"0.458,0.19,0.258(P,B,B)",2.575(M),-1.1141(T),,chr5,150489337,150489337,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg554Gln/c.1661G>A|673|ANXA6|protein_coding|CODING|NM_001155.4|22|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg522Gln/c.1565G>A|641|ANXA6|protein_coding|CODING|NM_001193544.1|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.188168(N),1.000(D),"2.66,2.66,2.66,2.66,2.66(T,T,T,T,T)",0.0583(T),0.527,3.569494,5.64,5.64,0.655000,2.664000,4.573000,0.683000,0.384000,0.963000,12.5758
synonymous_variant,ANXA6,SILENT,NM_001155.4:p.Pro536Pro/c.1608T>C,ccT/ccC,LOW,COSM3761038(2),0.758187,0.6696,rs1133202,,,,,,chr5,150489390,150489390,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro536Pro/c.1608T>C|673|ANXA6|protein_coding|CODING|NM_001155.4|22|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro504Pro/c.1512T>C|641|ANXA6|protein_coding|CODING|NM_001193544.1|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7372,0.7637,0.7555,,,,,,,,,,,,,,,,,,,
synonymous_variant,ANXA6,SILENT,NM_001155.4:p.Leu44Leu/c.130C>T,Ctg/Ttg,LOW,,0.277556,0.4454,rs2228458,,,,,,chr5,150518988,150518988,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu44Leu/c.130C>T|673|ANXA6|protein_coding|CODING|NM_001155.4|4|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu12Leu/c.34C>T|641|ANXA6|protein_coding|CODING|NM_001193544.1|3|1)","H1ESC:H3K36me3,CD4:H2BK5ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.501,0.3069,0.2177,,,,,,,,,,,,,,,,,,,
missense_variant,GM2A,MISSENSE,NM_000405.4:p.Ala19Thr/c.55G>A,Gcc/Acc,MODERATE,COSM3761040(1),0.0800719,0.2014,rs1048719,0.35(T),"0.045,0.012(B,B)",0.69(N),-1.1151(T),,chr5,150632832,150632832,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala19Thr/c.55G>A|193|GM2A|protein_coding|CODING|NM_000405.4|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala19Thr/c.55G>A|186|GM2A|protein_coding|CODING|NM_001167607.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,CD4:H3K36ac,GM12878:PolII,HepG2:H3K4me3,GM12878:Cfos,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,,,0.089,0.0821,0.0308,,,,,0.063101(N),1.000(P),-0.11(T),0.0001(T),0.025,1.870050,3.26,0.34,0.462000,0.055000,-0.105000,0.291000,0.000000,0.000000,1.9241
missense_variant,GM2A,MISSENSE,NM_000405.4:p.Met69Val/c.205A>G,Atg/Gtg,MODERATE,,0.860224,1,rs153478,,,-1.15(N),-0.9946(T),,chr5,150639439,150639439,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met69Val/c.205A>G|193|GM2A|protein_coding|CODING|NM_000405.4|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met69Val/c.205A>G|186|GM2A|protein_coding|CODING|NM_001167607.1|2|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9346,0.8112,0.675,,,,,,1.000(P),,0.0000(T),.,0.454547,5.36,-2.41,-1.656000,-0.846000,0.529000,0.000000,0.000000,0.000000,1.2149
synonymous_variant,GM2A,SILENT,NM_001167607.1:p.Ile172Ile/c.516T>C,atT/atC,LOW,COSN167621,0.145168,0.253,rs9324686,,,,,,chr5,150647156,150647156,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile172Ile/c.516T>C|186|GM2A|protein_coding|CODING|NM_001167607.1|4|1),3_prime_UTR_variant(MODIFIER||144|c.*144T>C|193|GM2A|protein_coding|CODING|NM_000405.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.092,0.0663,0.0249,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC36A2,SILENT,NM_181776.2:p.Gln461Gln/c.1383G>A,caG/caA,LOW,,0.673522,0.8482,rs369907,,,,,,chr5,150696447,150696447,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln461Gln/c.1383G>A|483|SLC36A2|protein_coding|CODING|NM_181776.2|10|1),,,,,0.7474,0.683,0.5348,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC36A2,SILENT,NM_181776.2:p.Thr430Thr/c.1290G>A,acG/acA,LOW,COSM4159656(1),0.673522,0.8482,rs431240,,,,,,chr5,150696540,150696540,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr430Thr/c.1290G>A|483|SLC36A2|protein_coding|CODING|NM_181776.2|10|1),,,,,0.7474,0.683,0.5348,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC36A2,SILENT,NM_181776.2:p.Leu63Leu/c.187C>T,Ctg/Ttg,LOW,,0.6252,0.9841,rs192192,,,,,,chr5,150723806,150723806,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu63Leu/c.187C>T|483|SLC36A2|protein_coding|CODING|NM_181776.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.771,0.6369,0.5348,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC36A1,SILENT,NM_078483.2:p.Ser112Ser/c.336C>G,tcC/tcG,LOW,,0.0107827,0,rs34478431,,,,,,chr5,150844647,150844647,C,G,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser112Ser/c.336C>G|476|SLC36A1|protein_coding|CODING|NM_078483.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0115,0.0298,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Ser4169Ser/c.12507C>T,agC/agT,LOW,,0.911941,0.9643,rs7723266,,,,,,chr5,150886725,150886725,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser4169Ser/c.12507C>T|4349|FAT2|protein_coding|CODING|NM_001447.2|22|1),"HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.8967,0.9063,0.8131,,,,,,0.000(P),,,.,0.258323,4.75,-8.14,-0.137000,-1.469000,-0.900000,0.774000,0.147000,0.020000,1.8808
missense_variant,FAT2,MISSENSE,NM_001447.2:p.Pro4117Leu/c.12350C>T,cCg/cTg,MODERATE,COSM3761045(1),0.776957,0.8244,rs1105168,0.71(T),"0.0,0.0(B,B)",-0.345(N),-0.9824(T),,chr5,150886882,150886882,G,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro4117Leu/c.12350C>T|4349|FAT2|protein_coding|CODING|NM_001447.2|22|1),"HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.817,0.7291,0.5487,,,,,0.699675(N),1.000(P),-0.51(T),0.0000(T),0.229,-1.314492,4.63,0.264,-0.150000,-0.078000,-0.041000,0.230000,0.001000,0.000000,9.5946
synonymous_variant,FAT2,SILENT,NM_001447.2:p.His3966His/c.11898T>C,caT/caC,LOW,,0.799521,0.9494,rs2304028,,,,-1.0697(T),,chr5,150891733,150891733,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His3966His/c.11898T>C|4349|FAT2|protein_coding|CODING|NM_001447.2|20|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.8804,0.8026,0.7197,,,,,,1.000(P),,0.0000(T),.,-1.808313,5.09,-10.2,-3.729000,-4.887000,-3.163000,0.001000,0.000000,0.000000,8.217
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Asp3681Asp/c.11043T>C,gaT/gaC,LOW,,0.779553,0.9494,rs3822699,,,,-1.0394(T),,chr5,150901111,150901111,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp3681Asp/c.11043T>C|4349|FAT2|protein_coding|CODING|NM_001447.2|18|1),downstream_gene_variant(MODIFIER||537|||MIR6499||NON_CODING|NR_106752.1||1)","GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8528,0.7968,0.7177,,,,,,0.000(P),,0.0000(T),.,-0.667237,5.84,-6.42,-0.215000,-2.542000,-1.785000,0.367000,0.020000,0.000000,19.859
missense_variant,FAT2,MISSENSE,NM_001447.2:p.Met3631Ile/c.10893G>A,atG/atA,MODERATE,,0.76897,0.9494,rs6650971,0.55(T),"0.002,0.002(B,B)",-0.55(N),-1.0116(T),,chr5,150901261,150901261,C,T,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met3631Ile/c.10893G>A|4349|FAT2|protein_coding|CODING|NM_001447.2|18|1),downstream_gene_variant(MODIFIER||387|||MIR6499||NON_CODING|NR_106752.1||1)","GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8528,0.7939,0.7157,,,,,0.410984(N),1.000(P),-0.33(T),0.0000(T),0.194,-0.083506,5.85,1.83,0.563000,0.346000,0.360000,0.945000,0.885000,0.994000,7.8456
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Tyr3618Tyr/c.10854C>T,taC/taT,LOW,,0.764577,0.9484,rs3734046,,,,-1.0525(T),,chr5,150901300,150901300,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr3618Tyr/c.10854C>T|4349|FAT2|protein_coding|CODING|NM_001447.2|18|1),downstream_gene_variant(MODIFIER||348|||MIR6499||NON_CODING|NR_106752.1||1)","GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8528,0.7939,0.7147,,,,,,0.000(P),,0.0000(T),.,0.220690,5.95,-10.2,0.563000,-1.719000,-0.694000,0.657000,0.450000,0.049000,15.7982
missense_variant,FAT2,MISSENSE,NM_001447.2:p.Leu3514Ser/c.10541T>C,tTg/tCg,MODERATE,COSM292313(1),0.775759,0.9494,rs2053028,0.88(T),"0.005,0.0(B,B)",-1.005(N),-0.9683(T),,chr5,150901613,150901613,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu3514Ser/c.10541T>C|4349|FAT2|protein_coding|CODING|NM_001447.2|18|1),downstream_gene_variant(MODIFIER||35|||MIR6499||NON_CODING|NR_106752.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8528,0.7997,0.7167,,,,,0.002357(N),1.000(P),0.75(T),0.0000(T),0.287,-0.816203,5.14,2.36,-0.213000,0.036000,2.342000,0.234000,0.001000,0.984000,9.2695
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Thr3071Thr/c.9213T>A,acT/acA,LOW,COSM3761048(1),0.632788,0.8085,rs1432643,,,,,,chr5,150914184,150914184,A,T,hom,synonymous_variant(LOW|SILENT|acT/acA|p.Thr3071Thr/c.9213T>A|4349|FAT2|protein_coding|CODING|NM_001447.2|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,H1ESC:DNase1,NHEK:H3K36me3",,,,0.728,0.6585,0.5298,,,,,,,,,,,,,,,,,,,
missense_variant,FAT2,MISSENSE,NM_001447.2:p.Phe2428Ser/c.7283T>C,tTc/tCc,MODERATE,,0.997604,1,rs6892335,0.83(T),0.0(B),-1.93(N),-0.9617(T),,chr5,150923405,150923405,A,G,hom,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe2428Ser/c.7283T>C|4349|FAT2|protein_coding|CODING|NM_001447.2|9|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.9969,0.9957,0.994,,,,,0.001626(N),1.000(P),0.85(T),0.0000(T),0.04,0.880577,5.58,4.7,-0.215000,1.375000,2.327000,0.990000,1.000000,1.000000,10.0339
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Tyr1973Tyr/c.5919C>T,taC/taT,LOW,COSM4003410(1),0.115815,0.1329,rs998076,,,,,,chr5,150924769,150924769,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1973Tyr/c.5919C>T|4349|FAT2|protein_coding|CODING|NM_001447.2|9|1),"GM06990:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0695,0.0836,0.0924,,,,,,,,,,,,,,,,,,,
missense_variant,FAT2,MISSENSE,NM_001447.2:p.Thr1909Ile/c.5726C>T,aCt/aTt,MODERATE,,0.000599042,0,rs142001888,0.13(T),0.001(B),1.63(L),-0.9826(T),,chr5,150924962,150924962,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr1909Ile/c.5726C>T|4349|FAT2|protein_coding|CODING|NM_001447.2|9|1),"GM06990:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0,0.0043,0,,,,,0.181477(N),1.000(N),0.18(T),0.1485(T),0.207,1.136580,5.04,4.11,0.491000,2.346000,1.750000,0.924000,0.982000,0.727000,7.6792
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Pro1848Pro/c.5544T>C,ccT/ccC,LOW,,0.815695,0.7302,rs3797875,,,,,,chr5,150925144,150925144,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1848Pro/c.5544T>C|4349|FAT2|protein_coding|CODING|NM_001447.2|9|1),"GM06990:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6431,0.8415,0.8201,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Ser1414Ser/c.4242G>C,tcG/tcC,LOW,,0.014377,0,rs55719915,,,,,,chr5,150931082,150931082,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser1414Ser/c.4242G>C|4349|FAT2|protein_coding|CODING|NM_001447.2|6|1),"HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.0378,0.0159,0.0239,,,,,,,,,,,,,,,,,,,
missense_variant,FAT2,MISSENSE,NM_001447.2:p.Tyr1181His/c.3541T>C,Tac/Cac,MODERATE,,0.998403,1,rs6872614,0.21(T),0.0(B),-0.865(N),-1.0121(T),,chr5,150942919,150942919,A,G,hom,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr1181His/c.3541T>C|4349|FAT2|protein_coding|CODING|NM_001447.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.999,0.9971,0.995,,,,,0.061803(N),1.000(P),4.68(T),0.0000(T),0.019,1.373869,5.03,1.9,-0.215000,0.204000,2.744000,0.942000,0.651000,1.000000,5.1003
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Pro509Pro/c.1527C>T,ccC/ccT,LOW,,0.86881,0.7837,rs1465690,,,,,,chr5,150946966,150946966,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro509Pro/c.1527C>T|4349|FAT2|protein_coding|CODING|NM_001447.2|1|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9131,0.7738,0.9384,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAT2,SILENT,NM_001447.2:p.Glu159Glu/c.477G>A,gaG/gaA,LOW,,0.0511182,0.0774,rs3734062,,,,,,chr5,150948016,150948016,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu159Glu/c.477G>A|4349|FAT2|protein_coding|CODING|NM_001447.2|1|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.045,0.062,0.0865,,,,,,,,,,,,,,,,,,,
synonymous_variant,G3BP1,SILENT,NM_005754.2:p.Val410Val/c.1230C>T,gtC/gtT,LOW,COSM3852947(1),0.00119808,0,rs144577510,,,,,,chr5,151183481,151183481,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val410Val/c.1230C>T|466|G3BP1|protein_coding|CODING|NM_005754.2|12|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val410Val/c.1230C>T|466|G3BP1|protein_coding|CODING|NM_198395.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0,0.0029,0.003,,,,,,,,,,,,,,,,,,,
synonymous_variant,GLRA1,SILENT,NM_001146040.1:p.Arg347Arg/c.1041G>A,agG/agA,LOW,COSM3774166(1),0.00838658,0,rs75463357,,,,,,chr5,151208500,151208500,C,T,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg347Arg/c.1041G>A|449|GLRA1|protein_coding|CODING|NM_000171.3|8|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg347Arg/c.1041G>A|457|GLRA1|protein_coding|CODING|NM_001146040.1|8|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg264Arg/c.792G>A|366|GLRA1|protein_coding|CODING|NM_001292000.1|7|1)","HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0159,0.0258,,,,,,,,,,,,,,,,,,,
missense_variant,NMUR2,MISSENSE,NM_020167.4:p.Ala395Thr/c.1183G>A,Gca/Aca,MODERATE,,0.998203,1,rs1363422,0.98(T),0.0(B),-1.155(N),-0.9473(T),,chr5,151771817,151771817,C,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala395Thr/c.1183G>A|415|NMUR2|protein_coding|CODING|NM_020167.4|4|1),,,,,0.999,0.9957,0.995,,,,,0.028767(N),1.000(P),-0.48(T),0.0000(T),0.049,-0.897780,4.37,1.97,-0.516000,0.018000,0.977000,0.019000,0.001000,0.973000,8.0168
missense_variant,NMUR2,MISSENSE,NM_020167.4:p.Met388Val/c.1162A>G,Atg/Gtg,MODERATE,,0.122804,0.0258,rs386596739,1(T),0.0(B),-1.15(N),-1.0921(T),,chr5,151771838,151771838,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met388Val/c.1162A>G|415|NMUR2|protein_coding|CODING|NM_020167.4|4|1),,,,,0.1667,0.2954,0.2038,,,,,0.001145(N),1.000(P),-0.28(T),0.0000(T),0.009,-1.683941,4.37,-7.17,-2.872000,-1.680000,-0.557000,0.000000,0.000000,0.001000,2.8611
missense_variant,NMUR2,MISSENSE,NM_020167.4:p.Pro383Leu/c.1148C>T,cCa/cTa,MODERATE,,0.122804,0.0258,rs386596740,0.11(T),0.012(B),1.935(M),-1.0826(T),,chr5,151771852,151771852,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro383Leu/c.1148C>T|415|NMUR2|protein_coding|CODING|NM_020167.4|4|1),,,,,0.1667,0.2954,0.2038,,,,,0.011641(N),0.625(P),-0.42(T),0.0000(T),0.085,0.586858,4.25,3.38,-0.373000,1.101000,3.298000,0.091000,0.110000,0.345000,11.493
missense_variant,NMUR2,MISSENSE,NM_020167.4:p.Phe315Leu/c.945C>A,ttC/ttA,MODERATE,,0.122804,0.0258,rs1895245,1(T),0.01(B),-0.025(N),-0.9521(T),,chr5,151772055,151772055,G,T,het,missense_variant(MODERATE|MISSENSE|ttC/ttA|p.Phe315Leu/c.945C>A|415|NMUR2|protein_coding|CODING|NM_020167.4|4|1),,,,,0.1667,0.2954,0.2038,,,,,0.002905(N),0.151(P),1.61(T),0.0000(T),0.096,0.328848,5.01,2.2,-1.469000,-0.007000,2.077000,0.354000,0.997000,1.000000,9.6234
missense_variant,NMUR2,MISSENSE,NM_020167.4:p.Ser298Thr/c.893G>C,aGt/aCt,MODERATE,COSM3852952(3),0.122804,0.0258,rs4958535,1(T),0.0(B),-1.135(N),-1.0423(T),,chr5,151775064,151775064,C,G,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser298Thr/c.893G>C|415|NMUR2|protein_coding|CODING|NM_020167.4|3|1),,,,,0.1667,0.2954,0.2038,,,,,0.000008(N),1.000(P),-0.48(T),0.0000(T),0.015,0.044036,5.8,2.97,-0.120000,0.060000,3.998000,0.921000,0.589000,1.000000,5.7952
synonymous_variant,FAM114A2,SILENT,NM_018691.2:p.Thr335Thr/c.1005C>T,acC/acT,LOW,COSM3761057(2),0.0930511,0.0179,rs34136150,,,,,,chr5,153382518,153382518,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr335Thr/c.1005C>T|505|FAM114A2|protein_coding|CODING|NM_018691.2|10|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.0764,0.1143,,,,,,,,,,,,,,,,,,,
synonymous_variant,GEMIN5,SILENT,NM_015465.4:p.Ala1446Ala/c.4338G>A,gcG/gcA,LOW,,0.950879,0.9782,rs816739,,,,,,chr5,154268902,154268902,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1445Ala/c.4335G>A|1507|GEMIN5|protein_coding|CODING|NM_001252156.1|27|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1446Ala/c.4338G>A|1508|GEMIN5|protein_coding|CODING|NM_015465.4|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9816,0.9784,0.9781,,,,,,,,,,,,,,,,,,,
missense_variant,GEMIN5,MISSENSE,NM_015465.4:p.Arg682Gln/c.2045G>A,cGa/cAa,MODERATE,,0.816893,0.8919,rs1974777,0.72(T),0.185(B),-0.245(N),-0.9027(T),,chr5,154291409,154291409,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg681Gln/c.2042G>A|1507|GEMIN5|protein_coding|CODING|NM_001252156.1|15|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg682Gln/c.2045G>A|1508|GEMIN5|protein_coding|CODING|NM_015465.4|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8926,0.7767,0.8867,,,,,0.063668(N),0.960(P),0.24(T),0.0000(T),0.169,1.651251,5.56,4.7,0.491000,1.350000,1.607000,0.976000,1.000000,0.998000,8.6542
synonymous_variant,GEMIN5,SILENT,NM_015465.4:p.Thr475Thr/c.1425T>G,acT/acG,LOW,,0.788738,0.8919,rs348739,,,,,,chr5,154300940,154300940,A,C,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr474Thr/c.1422T>G|1507|GEMIN5|protein_coding|CODING|NM_001252156.1|10|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr475Thr/c.1425T>G|1508|GEMIN5|protein_coding|CODING|NM_015465.4|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8916,0.7666,0.8867,,,,,,,,,,,,,,,,,,,
synonymous_variant,GEMIN5,SILENT,NM_015465.4:p.Leu351Leu/c.1053A>G,ctA/ctG,LOW,,0.816494,0.8909,rs2258437,,,,,,chr5,154306972,154306972,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu350Leu/c.1050A>G|1507|GEMIN5|protein_coding|CODING|NM_001252156.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu351Leu/c.1053A>G|1508|GEMIN5|protein_coding|CODING|NM_015465.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8926,0.7767,0.8867,,,,,,,,,,,,,,,,,,,
synonymous_variant,SGCD,SILENT,NM_000337.5:p.Tyr28Tyr/c.84T>C,taT/taC,LOW,COSM4159670(1),0.485423,0.7937,rs1801193,,,,,,chr5,155771579,155771579,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr28Tyr/c.84T>C|290|SGCD|protein_coding|CODING|NM_000337.5|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr27Tyr/c.81T>C|289|SGCD|protein_coding|CODING|NM_001128209.1|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr28Tyr/c.84T>C|256|SGCD|protein_coding|CODING|NM_172244.2|3|1)","HSMM:H3K36me3,IMR90:H3K36me3",,RCV000041413.3|RCV000128029.1,,0.5491,0.464,0.4473,,,,,,,,,,,,,,,,,,,
missense_variant,TIMD4,MISSENSE,NM_138379.2:p.Val240Ala/c.719T>C,gTt/gCt,MODERATE,,0.976438,1,rs6873053,0.8(T),"0.0,0.0(B,B)",-0.205(N),-1.0107(T),,chr5,156376703,156376703,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val240Ala/c.719T>C|350|TIMD4|protein_coding|CODING|NM_001146726.1|4|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val240Ala/c.719T>C|378|TIMD4|protein_coding|CODING|NM_138379.2|4|1)",,,,,0.9806,0.9726,0.9254,,,,,0.003620(N),1.000(P),"2.28,2.34(T,T)",0.0000(T),0.012,-1.590751,3.62,-0.249,-0.119000,-0.321000,-1.574000,0.000000,0.000000,0.000000,4.1017
synonymous_variant,HAVCR1,SILENT,NM_001099414.1:p.Thr207Thr/c.621T>G,acT/acG,LOW,,0.91274,0.9861,rs1553317,,,,,,chr5,156479424,156479424,A,C,het,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr207Thr/c.621T>G|364|HAVCR1|protein_coding|CODING|NM_001099414.1|4|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr207Thr/c.621T>G|364|HAVCR1|protein_coding|CODING|NM_001173393.1|4|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr207Thr/c.621T>G|364|HAVCR1|protein_coding|CODING|NM_012206.2|3|1)",HepG2:H3K36me3,,,,0.9642,0.915,0.838,,,,,,,,,,,,,,,,,,,
missense_variant,HAVCR1,MISSENSE,NM_001099414.1:p.Leu179Pro/c.536T>C,cTg/cCg,MODERATE,,0.91254,0.9851,rs1553316,0.31(T),"0.0,0.0(B,B)",0(N),-1.0627(T),,chr5,156479509,156479509,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu179Pro/c.536T>C|364|HAVCR1|protein_coding|CODING|NM_001099414.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu179Pro/c.536T>C|364|HAVCR1|protein_coding|CODING|NM_001173393.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu179Pro/c.536T>C|364|HAVCR1|protein_coding|CODING|NM_012206.2|3|1)",HepG2:H3K36me3,,,,0.9632,0.915,0.838,,,,,,1.000(P),"2.41,2.47,2.47,2.41,2.47,2.46(T,T,T,T,T,T)",0.0000(T),0.064,-0.350242,1.74,-2.25,-1.596000,-0.994000,0.321000,0.000000,0.000000,0.000000,6.333
synonymous_variant,HAVCR1,SILENT,NM_001099414.1:p.Ser44Ser/c.132C>A,tcC/tcA,LOW,,0.909145,0.9861,rs1809941,,,,,,chr5,156482459,156482459,G,T,het,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser44Ser/c.132C>A|364|HAVCR1|protein_coding|CODING|NM_001099414.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser44Ser/c.132C>A|364|HAVCR1|protein_coding|CODING|NM_001173393.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser44Ser/c.132C>A|364|HAVCR1|protein_coding|CODING|NM_012206.2|2|1)",,,,,0.9642,0.9179,0.839,,,,,,,,,,,,,,,,,,,
missense_variant,HAVCR2,MISSENSE,NM_032782.4:p.Arg140Leu/c.419G>T,cGg/cTg,MODERATE,,0.883187,0.9841,rs1036199,0.4(T),0.0(B),-0.895(N),-1.0146(T),,chr5,156531736,156531736,C,A,het,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg140Leu/c.419G>T|301|HAVCR2|protein_coding|CODING|NM_032782.4|3|1),,,,,0.9663,0.8934,0.8181,,,,,0.633803(N),1.000(P),"2.24,0.9(T,T)",0.0000(T),0.301,0.779272,4.5,-0.0636,-0.363000,-0.400000,0.194000,0.030000,0.000000,0.000000,4.3205
missense_variant,FAM71B,MISSENSE,NM_130899.2:p.Met564Thr/c.1691T>C,aTg/aCg,MODERATE,COSM3761066(1),0.114617,0.0139,rs31208,1(T),0.0(B),-0.755(N),-0.9775(T),,chr5,156589585,156589585,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met564Thr/c.1691T>C|605|FAM71B|protein_coding|CODING|NM_130899.2|2|1),"IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0501,0.0922,0.1243,,,,,0.269439(N),1.000(P),2.26(T),0.0000(T),0.014,-2.137566,3.87,0.954,-0.242000,0.170000,0.172000,0.010000,0.000000,0.000000,2.6679
synonymous_variant,FAM71B,SILENT,NM_130899.2:p.Gly307Gly/c.921T>C,ggT/ggC,LOW,COSM3761067(1),0.152356,0.0139,rs31220,,,,,,chr5,156590355,156590355,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly307Gly/c.921T>C|605|FAM71B|protein_coding|CODING|NM_130899.2|2|1),"CD4:H2BK20ac,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0532,0.1138,0.1372,,,,,,,,,,,,,,,,,,,
missense_variant,NIPAL4,MISSENSE,NM_001099287.1:p.Arg213Gly/c.637A>G,Agg/Ggg,MODERATE,,0.504593,0.7232,rs6860507,0.61(T),"0.0,0.0(B,B)",-0.84(N),-0.9619(T),,chr5,156898690,156898690,A,G,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg213Gly/c.637A>G|466|NIPAL4|protein_coding|CODING|NM_001099287.1|5|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg194Gly/c.580A>G|447|NIPAL4|protein_coding|CODING|NM_001172292.1|4|1)","NHEK:CTCF,NH-A:H3K36me3,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3",,,,0.4325,0.4726,0.4712,,,,,0.000001(N),0.000(P),"0.16,0.16(T,T)",0.0000(T),0.049,0.267117,5.64,4.78,-0.355000,0.765000,1.582000,0.643000,1.000000,1.000000,12.4512
synonymous_variant,NIPAL4,SILENT,NM_001099287.1:p.Val434Val/c.1302T>C,gtT/gtC,LOW,,0.986821,1,rs4704870,,,,,,chr5,156899869,156899869,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val434Val/c.1302T>C|466|NIPAL4|protein_coding|CODING|NM_001099287.1|6|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val415Val/c.1245T>C|447|NIPAL4|protein_coding|CODING|NM_001172292.1|5|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9928,0.9841,0.9553,,,,,,,,,,,,,,,,,,,
missense_variant,ADAM19,MISSENSE,NM_033274.4:p.Gly508Ser/c.1522G>A,Ggc/Agc,MODERATE,,0.000798722,0,rs151006818,0.28(T),"0.12,0.069,0.078(B,B,B)",1.03(L),-1.0818(T),,chr5,156923974,156923974,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly508Ser/c.1522G>A|918|ADAM19|protein_coding|CODING|NM_033274.4|14|1),"NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0,0,0.004,,,,,0.010345(N),0.998(D),"2.03,2.03,2.03,2.03(T,T,T,T)",0.0391(T),0.292,2.215983,5.49,2.77,-0.262000,0.296000,2.076000,0.636000,0.237000,0.016000,10.7864
missense_variant,THG1L,MISSENSE,NM_017872.3:p.Leu232Pro/c.695T>C,cTg/cCg,MODERATE,,0.709065,0.8125,rs2270812,1(T),"0.0,0.0(B,B)",-2.38(N),-0.9510(T),,chr5,157164962,157164962,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu232Pro/c.695T>C|298|THG1L|protein_coding|CODING|NM_017872.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7209,0.5086,0.6471,,,,,0.000006(N),0.013(P),1.42(T),0.0000(T),0.544,0.529873,5.58,5.58,-0.128000,1.503000,4.779000,0.662000,0.898000,1.000000,15.0776
synonymous_variant,EBF1,SILENT,NM_001290360.1:p.Tyr345Tyr/c.1035T>C,taT/taC,LOW,COSM1132223(2),0.59345,0.6151,rs1368298,,,,,,chr5,158204425,158204425,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr345Tyr/c.1035T>C|592|EBF1|protein_coding|CODING|NM_001290360.1|10|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr344Tyr/c.1032T>C|591|EBF1|protein_coding|CODING|NM_024007.3|10|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr313Tyr/c.939T>C|560|EBF1|protein_coding|CODING|NM_182708.1|9|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.3507,0.6138,0.4513,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADRA1B,SILENT,NM_000679.3:p.Gly183Gly/c.549G>A,ggG/ggA,LOW,COSM150006(2),0.201877,0.3482,rs3729604,,,,,,chr5,159344461,159344461,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly183Gly/c.549G>A|520|ADRA1B|protein_coding|CODING|NM_000679.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1299,0.1931,0.1759,,,,,,,,,,,,,,,,,,,
missense_variant,FABP6,MISSENSE,NM_001040442.1:p.Thr128Met/c.383C>T,aCg/aTg,MODERATE,,0.464856,0.494,rs1130435,0.08(T),"0.008,0.02(B,B)",0.805(L),-0.9218(T),,chr5,159659273,159659273,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr128Met/c.383C>T|177|FABP6|protein_coding|CODING|NM_001040442.1|4|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr128Met/c.383C>T|177|FABP6|protein_coding|CODING|NM_001130958.1|5|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr79Met/c.236C>T|128|FABP6|protein_coding|CODING|NM_001445.2|2|1)",,,,,0.547,0.4092,0.3966,,,,,0.000000(D),0.999(P),"1.92,1.92,1.92(T,T,T)",0.0000(T),0.102,1.208885,4.64,3.48,-0.525000,0.805000,5.108000,0.374000,1.000000,1.000000,9.6938
synonymous_variant,C1QTNF2,SILENT,NM_031908.4:p.Lys177Lys/c.531G>A,aaG/aaA,LOW,COSM3761073(2),0.338658,0.3284,rs10053189,,,,,,chr5,159776637,159776637,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys177Lys/c.531G>A|330|C1QTNF2|protein_coding|CODING|NM_031908.4|3|1),HepG2:H3K27me3,,,,0.3272,0.4063,0.4781,,,,,,,,,,,,,,,,,,,
missense_variant,SLU7,MISSENSE,NM_006425.4:p.Met229Thr/c.686T>C,aTg/aCg,MODERATE,,,,rs2961944,0.61(T),0.0(B),-0.69(N),-0.9762(T),,chr5,159835658,159835658,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met229Thr/c.686T>C|586|SLU7|protein_coding|CODING|NM_006425.4|7|1),splice_region_variant(LOW|||c.686T>C|586|SLU7|protein_coding|CODING|NM_006425.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.108130(N),1.000(P),1.05(T),0.0000(T),0.027,0.810550,6.16,-2.46,-1.636000,-0.918000,0.560000,0.430000,0.620000,0.995000,13.1096
synonymous_variant,ATP10B,SILENT,NM_025153.2:p.Val1397Val/c.4191A>G,gtA/gtG,LOW,,0.356829,0.1706,rs3812005,,,,,,chr5,159992655,159992655,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1397Val/c.4191A>G|1461|ATP10B|protein_coding|CODING|NM_025153.2|26|1),NHEK:H3K27me3,,,,0.3589,0.4323,0.33,,,,,,,,,,,,,,,,,,,
synonymous_variant,ATP10B,SILENT,NM_025153.2:p.Pro1364Pro/c.4092A>C,ccA/ccC,LOW,COSM4003433(1),0.394768,0.1706,rs3812006,,,,,,chr5,159992754,159992754,T,G,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1364Pro/c.4092A>C|1461|ATP10B|protein_coding|CODING|NM_025153.2|26|1),NHEK:H3K27me3,,,,0.3579,0.4467,0.33,,,,,,,,,,,,,,,,,,,
missense_variant,ATP10B,MISSENSE,NM_025153.2:p.Cys217Arg/c.649T>C,Tgt/Cgt,MODERATE,COSM3761076(1),0.861621,0.8938,rs958912,,"0.0,0.0,0.0(B,B,B)",-2.1(N),-0.9766(T),,chr5,160097496,160097496,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys217Arg/c.649T>C|1461|ATP10B|protein_coding|CODING|NM_025153.2|7|1),HepG2:H3K27me3,,,,0.8967,0.7118,0.8082,,,,,0.019328(N),0.998(P),-0.79(T),0.0000(T),0.016,-0.250728,5.13,2.34,-0.197000,0.023000,1.538000,0.408000,0.490000,0.188000,6.2216
synonymous_variant,ATP10B,SILENT,NM_025153.2:p.Arg171Arg/c.513C>T,cgC/cgT,LOW,COSM3761077(1),0.877596,0.8929,rs958911,,,,,,chr5,160097632,160097632,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg171Arg/c.513C>T|1461|ATP10B|protein_coding|CODING|NM_025153.2|7|1),HepG2:H3K27me3,,,,0.8998,0.7363,0.8658,,,,,,,,,,,,,,,,,,,
synonymous_variant,GABRA6,SILENT,NM_000811.2:p.Ser3Ser/c.9G>A,tcG/tcA,LOW,COSM4159698(1),0.0992412,0.0655,rs13188991,,,,,,chr5,161113004,161113004,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser3Ser/c.9G>A|453|GABRA6|protein_coding|CODING|NM_000811.2|1|1),,,,,0.0757,0.1124,0.2664,,,,,,,,,,,,,,,,,,,
synonymous_variant,GABRA6,SILENT,NM_000811.2:p.Ala317Ala/c.951G>T,gcG/gcT,LOW,,0.968251,0.999,rs12522663,,,,,,chr5,161119071,161119071,G,T,hom,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala317Ala/c.951G>T|453|GABRA6|protein_coding|CODING|NM_000811.2|8|1),,,,,1,0.9813,0.999,,,,,,,,,,,,,,,,,,,
synonymous_variant,GABRA6,SILENT,NM_000811.2:p.Ala335Ala/c.1005C>G,gcC/gcG,LOW,COSM4003434(1),0.401158,0.3185,rs13184586,,,,,,chr5,161119125,161119125,C,G,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala335Ala/c.1005C>G|453|GABRA6|protein_coding|CODING|NM_000811.2|8|1),,,,,0.4182,0.3732,0.5736,,,,,,,,,,,,,,,,,,,
synonymous_variant,GABRA6,SILENT,NM_000811.2:p.Val448Val/c.1344C>G,gtC/gtG,LOW,,,,rs4277944,,,,,,chr5,161128761,161128761,C,G,hom,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val448Val/c.1344C>G|453|GABRA6|protein_coding|CODING|NM_000811.2|9|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,HMMR,SILENT,NM_001142556.1:p.Gln46Gln/c.138G>A,caG/caA,LOW,,1,1,rs380101,,,,,,chr5,162890953,162890953,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln46Gln/c.138G>A|725|HMMR|protein_coding|CODING|NM_001142556.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln46Gln/c.138G>A|724|HMMR|protein_coding|CODING|NM_012484.2|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln46Gln/c.138G>A|709|HMMR|protein_coding|CODING|NM_012485.2|2|1),intron_variant(MODIFIER|||c.12+3209G>A|638|HMMR|protein_coding|CODING|NM_001142557.1|1|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,HMMR,MISSENSE,NM_001142556.1:p.Leu596Ile/c.1786C>A,Cta/Ata,MODERATE,,0.0347444,0,rs2230363,,"0.069,0.035,0.067,0.073(B,B,B,B)",1.39(L),-1.0749(T),,chr5,162911075,162911075,C,A,het,"missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu596Ile/c.1786C>A|725|HMMR|protein_coding|CODING|NM_001142556.1|16|1),missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu509Ile/c.1525C>A|638|HMMR|protein_coding|CODING|NM_001142557.1|13|1),missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu595Ile/c.1783C>A|724|HMMR|protein_coding|CODING|NM_012484.2|16|1),missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu580Ile/c.1738C>A|709|HMMR|protein_coding|CODING|NM_012485.2|15|1),splice_region_variant(LOW|||c.1786C>A|725|HMMR|protein_coding|CODING|NM_001142556.1|16|1),splice_region_variant(LOW|||c.1525C>A|638|HMMR|protein_coding|CODING|NM_001142557.1|13|1),splice_region_variant(LOW|||c.1783C>A|724|HMMR|protein_coding|CODING|NM_012484.2|16|1),splice_region_variant(LOW|||c.1738C>A|709|HMMR|protein_coding|CODING|NM_012485.2|15|1),intron_variant(MODIFIER|||n.601-797G>T||HMMR-AS1||NON_CODING|NR_109892.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0368,0.0476,0.0964,,,,,0.145787(N),0.834(N),"1.99,1.99,1.99,1.99,1.99(T,T,T,T,T)",0.0004(T),0.07,1.916613,5.45,2.56,0.650000,0.298000,1.086000,0.833000,0.890000,1.000000,10.511
missense_variant,TENM2,MISSENSE,NM_001122679.1:p.Pro338Ala/c.1012C>G,Cct/Gct,MODERATE,,,,,0.01(D),"0.643,0.991,0.452(P,D,P)",1.545(L),-0.5967(T),,chr5,167420013,167420013,C,G,het,missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro338Ala/c.1012C>G|2765|TENM2|protein_coding|CODING|NM_001122679.1|5|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,,,,,,,,0.000004(D),1.000(D),"0.77,0.77,0.77,0.77,0.77(T,T,T,T,T)",0.2751(T),0.693,5.173880,5.74,5.74,0.650000,2.712000,7.818000,0.889000,0.998000,1.000000,19.9403
synonymous_variant,TENM2,SILENT,NM_001122679.1:p.Asn1655Asn/c.4965T>C,aaT/aaC,LOW,,0.409744,0.5942,rs1363560,,,,,,chr5,167645888,167645888,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1655Asn/c.4965T>C|2765|TENM2|protein_coding|CODING|NM_001122679.1|23|1),"HUVEC:H3K27me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2342,0.2205,0.2207,,,,,,,,,,,,,,,,,,,
synonymous_variant,WWC1,SILENT,NM_001161661.1:p.Ser495Ser/c.1485A>G,tcA/tcG,LOW,COSM449290(2),0.666733,0.9921,rs12054944,,,,-1.0388(T),,chr5,167850748,167850748,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser495Ser/c.1485A>G|1119|WWC1|protein_coding|CODING|NM_001161661.1|11|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser495Ser/c.1485A>G|1118|WWC1|protein_coding|CODING|NM_001161662.1|11|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser495Ser/c.1485A>G|1113|WWC1|protein_coding|CODING|NM_015238.2|11|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5787,0.6383,0.4473,,,,,,0.000(P),,0.0000(T),.,0.686728,5.22,-10.4,-0.119000,-2.954000,-4.861000,0.734000,0.173000,0.000000,2.1271
missense_variant,WWC1,MISSENSE,NM_001161661.1:p.Asn606Ser/c.1817A>G,aAt/aGt,MODERATE,,0.0175719,0.001,rs61730019,1(T),"0.002,0.0,0.001(B,B,B)",0.315(N),-0.9616(T),,chr5,167855044,167855044,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn606Ser/c.1817A>G|1119|WWC1|protein_coding|CODING|NM_001161661.1|12|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn606Ser/c.1817A>G|1118|WWC1|protein_coding|CODING|NM_001161662.1|12|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn606Ser/c.1817A>G|1113|WWC1|protein_coding|CODING|NM_015238.2|12|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0256,0.0231,0.0437,,,,,0.599616(N),1.000(N),"2.25,2.25(T,T)",0.0035(T),0.11,0.844192,5.18,-4.82,-0.408000,-1.069000,0.143000,0.449000,0.002000,0.036000,8.8768
synonymous_variant,WWC1,SILENT,NM_001161661.1:p.Lys791Lys/c.2373A>G,aaA/aaG,LOW,COSM3761091(1),0.547724,0.6151,rs3733981,,,,-1.0061(T),,chr5,167868779,167868779,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys791Lys/c.2373A>G|1119|WWC1|protein_coding|CODING|NM_001161661.1|16|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys791Lys/c.2373A>G|1118|WWC1|protein_coding|CODING|NM_001161662.1|16|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys791Lys/c.2373A>G|1113|WWC1|protein_coding|CODING|NM_015238.2|16|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5153,0.4006,0.335,,,,,,0.000(P),,0.0000(T),.,1.466417,5.31,-3.53,0.374000,-0.512000,0.139000,0.985000,0.970000,0.920000,11.9069
synonymous_variant,WWC1,SILENT,NM_001161661.1:p.Val801Val/c.2403C>T,gtC/gtT,LOW,COSM3761092(1),0.547524,0.6131,rs3733980,,,,-1.0242(T),,chr5,167868809,167868809,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val801Val/c.2403C>T|1119|WWC1|protein_coding|CODING|NM_001161661.1|16|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val801Val/c.2403C>T|1118|WWC1|protein_coding|CODING|NM_001161662.1|16|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val801Val/c.2403C>T|1113|WWC1|protein_coding|CODING|NM_015238.2|16|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5153,0.4006,0.336,,,,,,0.997(P),,0.0000(T),.,0.780496,4.44,2.55,0.462000,0.369000,0.038000,0.344000,0.101000,0.021000,6.4652
synonymous_variant,WWC1,SILENT,NM_001161661.1:p.Leu1011Leu/c.3031T>C,Ttg/Ctg,LOW,COSM3761093(2),0.339058,0.0407,rs3203960,,,,-0.9353(T),,chr5,167891830,167891830,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1011Leu/c.3031T>C|1119|WWC1|protein_coding|CODING|NM_001161661.1|21|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1011Leu/c.3031T>C|1118|WWC1|protein_coding|CODING|NM_001161662.1|21|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1005Leu/c.3013T>C|1113|WWC1|protein_coding|CODING|NM_015238.2|21|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4571,0.3329,0.4463,,,,,,0.000(P),,0.0000(T),.,0.437319,5.14,5.14,-0.227000,1.189000,1.673000,0.506000,1.000000,1.000000,13.9056
synonymous_variant,RARS,SILENT,NM_002887.3:p.Ala499Ala/c.1497G>A,gcG/gcA,LOW,,0.784145,0.9415,rs653568,,,,,,chr5,167943827,167943827,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala499Ala/c.1497G>A|660|RARS|protein_coding|CODING|NM_002887.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.7565,0.5895,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLIT3,SILENT,NM_001271946.1:p.Pro1455Pro/c.4365G>A,ccG/ccA,LOW,,,,,,,,,,chr5,168093687,168093687,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1455Pro/c.4365G>A|1530|SLIT3|protein_coding|CODING|NM_001271946.1|36|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1448Pro/c.4344G>A|1523|SLIT3|protein_coding|CODING|NM_003062.3|36|1)",K562:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLIT3,SILENT,NM_001271946.1:p.Ser1296Ser/c.3888T>C,tcT/tcC,LOW,,0.988219,1,rs292486,,,,,,chr5,168098463,168098463,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1296Ser/c.3888T>C|1530|SLIT3|protein_coding|CODING|NM_001271946.1|34|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1289Ser/c.3867T>C|1523|SLIT3|protein_coding|CODING|NM_003062.3|34|1)","K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,HepG2:CTCF,H1ESC:CTCF",,,,0.9928,0.9741,0.9692,,,,,,,,,,,,,,,,,,,
missense_variant,SLIT3,MISSENSE,NM_001271946.1:p.Val371Ala/c.1112T>C,gTc/gCc,MODERATE,,0.930312,0.9593,rs891921,0.06(T),"0.0,0.001,0.001(B,B,B)",-0.61(N),-0.9482(T),,chr5,168212951,168212951,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val371Ala/c.1112T>C|1530|SLIT3|protein_coding|CODING|NM_001271946.1|12|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val371Ala/c.1112T>C|1523|SLIT3|protein_coding|CODING|NM_003062.3|12|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8589,0.9438,0.8797,,,,,0.005449(N),1.000(P),"1.92,1.92,1.92(T,T,T)",0.0000(T),0.122,3.411877,6.04,6.04,-0.124000,1.600000,6.261000,0.975000,0.999000,1.000000,14.5848
synonymous_variant,DOCK2,SILENT,NM_004946.2:p.Thr404Thr/c.1212C>A,acC/acA,LOW,,0.121605,0.122,rs2112703,,,,,,chr5,169127097,169127097,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr404Thr/c.1212C>A|1830|DOCK2|protein_coding|CODING|NM_004946.2|13|1),"GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1738,0.0893,0.2048,,,,,,,,,,,,,,,,,,,
synonymous_variant,DOCK2,SILENT,NM_004946.2:p.Gln909Gln/c.2727G>A,caG/caA,LOW,,0.395367,0.1577,rs261623,,,,,,chr5,169267784,169267784,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln909Gln/c.2727G>A|1830|DOCK2|protein_coding|CODING|NM_004946.2|27|1),"GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2914,0.389,0.4155,,,,,,,,,,,,,,,,,,,
missense_variant,FAM196B,MISSENSE,NM_001129891.1:p.Ser230Arg/c.690T>G,agT/agG,MODERATE,COSM1435936(1),0.422923,0.1607,rs17646221,0.01(D),0.047(B),1.995(M),-0.9569(T),,chr5,169310213,169310213,A,C,het,"missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser230Arg/c.690T>G|535|FAM196B|protein_coding|CODING|NM_001129891.1|2|1),intron_variant(MODIFIER|||c.2799+42357A>C|1830|DOCK2|protein_coding|CODING|NM_004946.2|27|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5409,0.5317,0.5298,,,,,0.010207(N),1.000(P),0.77(T),0.0000(T),0.117,1.133363,4.85,-0.642,-0.408000,-0.218000,0.446000,0.376000,0.038000,0.212000,5.5557
synonymous_variant,DOCK2,SILENT,NM_004946.2:p.Leu1065Leu/c.3195A>C,ctA/ctC,LOW,COSM3761106(3),0.243011,0.3909,rs2287727,,,,,,chr5,169435713,169435713,A,C,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu1065Leu/c.3195A>C|1830|DOCK2|protein_coding|CODING|NM_004946.2|32|1),"HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.3026,0.2783,,,,,,,,,,,,,,,,,,,
synonymous_variant,DOCK2,SILENT,NM_004946.2:p.Leu1152Leu/c.3456C>G,ctC/ctG,LOW,,0.486222,0.6052,rs9791113,,,,,,chr5,169454941,169454941,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1152Leu/c.3456C>G|1830|DOCK2|protein_coding|CODING|NM_004946.2|34|1),upstream_gene_variant(MODIFIER||551|||MIR378E||NON_CODING|NR_039609.1||1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.5051,0.3141,0.339,,,,,,,,,,,,,,,,,,,
synonymous_variant,DOCK2,SILENT,NM_004946.2:p.Thr1204Thr/c.3612C>T,acC/acT,LOW,COSM150013(2),0.506789,0.6042,rs3763048,,,,,,chr5,169461547,169461547,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1204Thr/c.3612C>T|1830|DOCK2|protein_coding|CODING|NM_004946.2|35|1),"GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",IgG_glycosylation,,,0.5102,0.3271,0.3489,,,,,,,,,,,,,,,,,,,
synonymous_variant,FOXI1,SILENT,NM_012188.4:p.Tyr348Tyr/c.1044T>C,taT/taC,LOW,,0.929513,0.9851,rs10063424,,,,,,chr5,169535522,169535522,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr348Tyr/c.1044T>C|378|FOXI1|protein_coding|CODING|NM_012188.4|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr253Tyr/c.759T>C|283|FOXI1|protein_coding|CODING|NM_144769.2|2|1)","GM06990:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9356,0.9294,0.9046,,,,,,,,,,,,,,,,,,,
missense_variant,C5orf58,MISSENSE,NM_001102609.1:p.Arg26Pro/c.77G>C,cGt/cCt,MODERATE,,,,rs957998,0.22(T),0.002(B),0(N),-0.9385(T),,chr5,169661994,169661994,G,C,hom,missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg26Pro/c.77G>C|102|C5orf58|protein_coding|CODING|NM_001102609.1|3|1),HUVEC:H3K27me3,,,,,,,,,,,,1.000(P),,0.0000(T),0.139,-1.010296,5.87,3.53,-0.302000,0.584000,1.242000,0.004000,0.002000,0.725000,7.9123
synonymous_variant,LCP2,SILENT,NM_005565.3:p.Gln326Gln/c.978G>A,caG/caA,LOW,COSM4003451(1),0.555312,0.5675,rs315717,,,,,,chr5,169685163,169685163,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln326Gln/c.978G>A|533|LCP2|protein_coding|CODING|NM_005565.3|16|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4438,0.5865,0.4712,,,,,,,,,,,,,,,,,,,
synonymous_variant,LCP2,SILENT,NM_005565.3:p.Val188Val/c.564G>A,gtG/gtA,LOW,COSM3749913(3),0.455072,0.6538,rs2292254,,,,,,chr5,169695446,169695446,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val188Val/c.564G>A|533|LCP2|protein_coding|CODING|NM_005565.3|8|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4796,0.4856,0.4245,,,,,,,,,,,,,,,,,,,
missense_variant,KCNMB1,MISSENSE,NM_004137.3:p.Glu65Lys/c.193G>A,Gag/Aag,MODERATE,,0.0946486,0.1369,rs11739136,,"0.027,0.012(B,B)",0.805(L),-0.9781(T),,chr5,169810796,169810796,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu65Lys/c.193G>A|191|KCNMB1|protein_coding|CODING|NM_004137.3|3|1),intron_variant(MODIFIER|||c.88+29828C>T|225|KCNIP1|protein_coding|CODING|NM_001034838.2|1|1)","GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000006304.1,,0.0726,0.1412,0.0964,,,,,0.000003(D),0.000(P),"2.84,2.84(T,T)",0.0002(T),0.255,2.845846,5.7,3.59,0.655000,1.403000,0.608000,0.964000,0.999000,0.960000,8.0511
synonymous_variant,STK10,SILENT,NM_005990.3:p.Ala333Ala/c.999C>T,gcC/gcT,LOW,COSM3761108(1),0.152556,0.1905,rs4868141,,,,,,chr5,171523436,171523436,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala333Ala/c.999C>T|968|STK10|protein_coding|CODING|NM_005990.3|8|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1431,0.2291,0.1889,,,,,,,,,,,,,,,,,,,
synonymous_variant,STK10,SILENT,NM_005990.3:p.Ser261Ser/c.783T>C,tcT/tcC,LOW,COSM4159732(1),0.758986,0.8542,rs2306963,,,,,,chr5,171533629,171533629,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser261Ser/c.783T>C|968|STK10|protein_coding|CODING|NM_005990.3|6|1),"HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7812,0.768,0.7435,,,,,,,,,,,,,,,,,,,
synonymous_variant,STK10,SILENT,NM_005990.3:p.Ser252Ser/c.756G>A,tcG/tcA,LOW,,0.684505,0.8532,rs2306962,,,,,,chr5,171533656,171533656,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser252Ser/c.756G>A|968|STK10|protein_coding|CODING|NM_005990.3|6|1),"HeLa-S3:DNase1,CD4:H2BK5ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7751,0.7507,0.7356,,,,,,,,,,,,,,,,,,,
synonymous_variant,DUSP1,SILENT,NM_004417.3:p.Ile200Ile/c.600C>A,atC/atA,LOW,,0.851438,0.999,rs2431663,,,,,,chr5,172196711,172196711,G,T,hom,synonymous_variant(LOW|SILENT|atC/atA|p.Ile200Ile/c.600C>A|367|DUSP1|protein_coding|CODING|NM_004417.3|3|1),"NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,HSMM:H3K36me3,IMR90:H4K20me1,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.9908,0.9467,0.9423,,,,,,,,,,,,,,,,,,,
synonymous_variant,NKX2-5,SILENT,NM_004387.3:p.Glu21Glu/c.63A>G,gaA/gaG,LOW,COSM3761113(2),0.535743,0.6339,rs2277923,,,,,,chr5,172662024,172662024,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu21Glu/c.63A>G|112|NKX2-5|protein_coding|CODING|NM_001166175.1|1|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu21Glu/c.63A>G|151|NKX2-5|protein_coding|CODING|NM_001166176.1|1|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu21Glu/c.63A>G|324|NKX2-5|protein_coding|CODING|NM_004387.3|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:TAF1,HepG2:H3K27me3,HMEC:H3K4me3,H1ESC:CTCF",,RCV000037967.2|RCV000127214.1,,0.4601,0.5058,0.2823,,,,,,,,,,,,,,,,,,,
missense_variant,BOD1,MISSENSE,NM_138369.2:p.Val136Met/c.406G>A,Gtg/Atg,MODERATE,COSM4159739(2),,,rs72822197,,,2.25(M),-0.3306(T),,chr5,173036394,173036394,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val136Met/c.406G>A|185|BOD1|protein_coding|CODING|NM_138369.2|3|1),intron_variant(MODIFIER|||c.363-1099G>A|129|BOD1|protein_coding|CODING|NM_001159651.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.3331(T),.,4.803392,5.65,5.65,0.655000,2.668000,7.474000,0.997000,1.000000,1.000000,19.7198
synonymous_variant,C5orf47,SILENT,NM_001144954.1:p.Gly33Gly/c.99C>A,ggC/ggA,LOW,COSM3827704(1),0.0597045,0.001,rs61730190,,,,,,chr5,173416365,173416365,C,A,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly33Gly/c.99C>A|176|C5orf47|protein_coding|CODING|NM_001144954.1|1|1),,,,,0.0368,0.0807,0.162,,,,,,,,,,,,,,,,,,,
missense_variant,MSX2,MISSENSE,NM_002449.4:p.Met129Thr/c.386T>C,aTg/aCg,MODERATE,,0.765775,0.9821,rs4242182,0.2(T),0.001(B),0.805(L),-0.9067(T),,chr5,174156168,174156168,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met129Thr/c.386T>C|267|MSX2|protein_coding|CODING|NM_002449.4|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9162,0.8516,0.8797,,,,,0.004979(N),0.000(P),-3.71(D),0.0000(T),0.076,1.698414,5.28,5.28,0.533000,2.219000,4.549000,0.792000,0.929000,1.000000,15.3678
synonymous_variant,DRD1,SILENT,NM_000794.3:p.Ser421Ser/c.1263A>G,tcA/tcG,LOW,,0.993011,1,rs155417,,,,,,chr5,174868840,174868840,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser421Ser/c.1263A>G|446|DRD1|protein_coding|CODING|NM_000794.3|2|1),"GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.998,0.9813,0.9841,,,,,,,,,,,,,,,,,,,
synonymous_variant,HRH2,SILENT,NM_001131055.1:p.Val181Val/c.543G>A,gtG/gtA,LOW,COSM3761117(1),0.0399361,0.0456,rs1800689,,,,,,chr5,175110779,175110779,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val181Val/c.543G>A|359|HRH2|protein_coding|CODING|NM_022304.2|1|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val181Val/c.543G>A|397|HRH2|protein_coding|CODING|NM_001131055.1|2|1)","H1ESC:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0511,0.036,0.0746,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARL10,SILENT,NM_173664.4:p.Leu13Leu/c.39G>C,ctG/ctC,LOW,COSM3749914(8),0.55651,0.5556,rs2303667,,,,,,chr5,175792605,175792605,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu13Leu/c.39G>C|244|ARL10|protein_coding|CODING|NM_173664.4|1|1),"NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,GM12878:PolII,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.498,0.4928,0.6093,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDHR2,SILENT,NM_001171976.1:p.Ile185Ile/c.555A>C,atA/atC,LOW,COSM4159745(1),0.841653,0.8403,rs4242200,,,,,,chr5,176002144,176002144,A,C,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile185Ile/c.555A>C|1310|CDHR2|protein_coding|CODING|NM_001171976.1|8|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile185Ile/c.555A>C|1310|CDHR2|protein_coding|CODING|NM_017675.4|8|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.8354,0.902,0.9274,,,,,,,,,,,,,,,,,,,
missense_variant,CDHR2,MISSENSE,NM_001171976.1:p.Val424Ala/c.1271T>C,gTg/gCg,MODERATE,,0.93131,1,rs11134982,0.81(T),0.0(B),-0.05(N),-0.9817(T),,chr5,176004476,176004476,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val424Ala/c.1271T>C|1310|CDHR2|protein_coding|CODING|NM_001171976.1|13|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val424Ala/c.1271T>C|1310|CDHR2|protein_coding|CODING|NM_017675.4|13|1)",HepG2:H3K36me3,,,,0.9898,0.9741,0.999,,,,,,1.000(P),"0.48,0.48,0.48(T,T,T)",0.0000(T),0.065,-0.480328,4.54,1.71,-0.380000,0.252000,-1.597000,0.009000,0.001000,0.000000,5.079
synonymous_variant,CDHR2,SILENT,NM_001171976.1:p.Asp562Asp/c.1686C>T,gaC/gaT,LOW,COSM3761123(1),0.653554,0.5516,rs2358747,,,,,,chr5,176005477,176005477,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp562Asp/c.1686C>T|1310|CDHR2|protein_coding|CODING|NM_001171976.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp562Asp/c.1686C>T|1310|CDHR2|protein_coding|CODING|NM_017675.4|16|1)","NHEK:CTCF,HeLa-S3:DNase1,CD4:DNase1,HeLa-S3:Max,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:E2F6,HeLa-S3:E2F4,K562:Rad21,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,HMEC:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,K562:E2F4,HeLa-S3:E2F6,GM06990:CTCF",,,,0.6636,0.7651,0.7535,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDHR2,SILENT,NM_001171976.1:p.Ala869Ala/c.2607G>A,gcG/gcA,LOW,,0.204273,0.0278,rs4868660,,,,,,chr5,176011889,176011889,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala869Ala/c.2607G>A|1310|CDHR2|protein_coding|CODING|NM_001171976.1|19|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala869Ala/c.2607G>A|1310|CDHR2|protein_coding|CODING|NM_017675.4|19|1)","H1ESC:H3K27me3,HepG2:H3K36me3",,,,0.1677,0.402,0.4145,,,,,,,,,,,,,,,,,,,
missense_variant,CDHR2,MISSENSE,NM_001171976.1:p.Thr1128Met/c.3383C>T,aCg/aTg,MODERATE,COSM1436165(2),0.282149,0.3194,rs2291442,0.12(T),0.002(B),0.51(N),-0.9988(T),,chr5,176017455,176017455,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1128Met/c.3383C>T|1310|CDHR2|protein_coding|CODING|NM_001171976.1|27|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1128Met/c.3383C>T|1310|CDHR2|protein_coding|CODING|NM_017675.4|27|1)","H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.2883,0.2334,0.2445,,,,,,1.000(P),"0.5,0.5,0.5(T,T,T)",0.0000(T),0.049,-0.170179,4.61,0.292,-1.263000,-0.169000,-1.990000,0.184000,0.030000,0.000000,3.7294
synonymous_variant,GPRIN1,SILENT,NM_052899.2:p.Gly652Gly/c.1956G>A,ggG/ggA,LOW,,0.827276,0.7887,rs4868663,,,,,,chr5,176024880,176024880,C,T,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly652Gly/c.1956G>A|1008|GPRIN1|protein_coding|CODING|NM_052899.2|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.8292,0.8977,0.9304,,,,,,,,,,,,,,,,,,,
missense_variant,GPRIN1,MISSENSE,NM_052899.2:p.Met300Val/c.898A>G,Atg/Gtg,MODERATE,,0.998203,1,rs6556276,0.37(T),0.0(B),-0.505(N),-1.0093(T),,chr5,176025938,176025938,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met300Val/c.898A>G|1008|GPRIN1|protein_coding|CODING|NM_052899.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.003759(N),1.000(P),3.15(T),0.0000(T),0.013,-1.034080,4.98,-3.95,-2.594000,-1.285000,-2.165000,0.000000,0.000000,0.000000,7.6523
synonymous_variant,GPRIN1,SILENT,NM_052899.2:p.Ala115Ala/c.345C>T,gcC/gcT,LOW,,0.00798722,0,rs35847475,,,,,,chr5,176026491,176026491,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala115Ala/c.345C>T|1008|GPRIN1|protein_coding|CODING|NM_052899.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0072,0.0072,0.0278,,,,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN17,SILENT,NM_012171.2:p.Pro63Pro/c.189C>T,ccC/ccT,LOW,,0.00259585,0,rs35207938,,,,,,chr5,176078805,176078805,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro63Pro/c.189C>T|263|TSPAN17|protein_coding|CODING|NM_001006616.2|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro63Pro/c.189C>T|332|TSPAN17|protein_coding|CODING|NM_012171.2|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro63Pro/c.189C>T|329|TSPAN17|protein_coding|CODING|NM_130465.4|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0043,0.008,,,,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN17,SILENT,NM_012171.2:p.Cys156Cys/c.468C>T,tgC/tgT,LOW,COSM449364(2),0.230631,0.4504,rs11267007,,,,-0.9601(T),,chr5,176081907,176081907,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys156Cys/c.468C>T|263|TSPAN17|protein_coding|CODING|NM_001006616.2|5|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys156Cys/c.468C>T|332|TSPAN17|protein_coding|CODING|NM_012171.2|5|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys156Cys/c.468C>T|329|TSPAN17|protein_coding|CODING|NM_130465.4|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3129,0.1484,0.2604,,,,,,0.000(P),,0.0000(T),.,1.025885,5.23,-3.44,-1.402000,-0.590000,-0.590000,0.904000,0.976000,0.112000,13.4813
synonymous_variant,HK3,SILENT,NM_002115.2:p.Asp531Asp/c.1593C>T,gaC/gaT,LOW,,0.333267,0.3948,rs2278492,,,,,,chr5,176314459,176314459,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp531Asp/c.1593C>T|923|HK3|protein_coding|CODING|NM_002115.2|11|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4049,0.4452,0.327,,,,,,,,,,,,,,,,,,,
synonymous_variant,HK3,SILENT,NM_002115.2:p.Ala471Ala/c.1413C>T,gcC/gcT,LOW,COSM449368(1),0.303115,0.3929,rs6875296,,,,,,chr5,176314639,176314639,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala471Ala/c.1413C>T|923|HK3|protein_coding|CODING|NM_002115.2|11|1),"K562:CTCF,GM12878:H3K36me3,K562:H3K27me3,K562:Rad21,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.4049,0.4294,0.326,,,,,,,,,,,,,,,,,,,
synonymous_variant,UIMC1,SILENT,NM_001199297.1:p.Thr448Thr/c.1344C>A,acC/acA,LOW,COSM4003460(1),0.588458,0.4911,rs365132,,,,,,chr5,176378574,176378574,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr448Thr/c.1344C>A|719|UIMC1|protein_coding|CODING|NM_001199297.1|10|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr448Thr/c.1344C>A|719|UIMC1|protein_coding|CODING|NM_001199298.1|9|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr448Thr/c.1344C>A|719|UIMC1|protein_coding|CODING|NM_016290.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3","Menopause_age_at_onset,Menarche_and_menopause_age_at_onset",,,0.499,0.4409,0.4881,,,,,,,,,,,,,,,,,,,
missense_variant,UIMC1,MISSENSE,NM_001199297.1:p.Pro435Leu/c.1304C>T,cCa/cTa,MODERATE,COSM3761129(1),0.102636,0.1944,rs3733876,0.04(D),"0.55,0.999,0.775,0.73,0.494(P,D,P,P,P)",1.355(L),-1.1623(T),,chr5,176382995,176382995,G,A,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro435Leu/c.1304C>T|719|UIMC1|protein_coding|CODING|NM_001199297.1|9|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro435Leu/c.1304C>T|719|UIMC1|protein_coding|CODING|NM_001199298.1|8|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro435Leu/c.1304C>T|719|UIMC1|protein_coding|CODING|NM_016290.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0757,0.0879,0.1571,,,,,0.001018(N),0.001(P),"2.58,2.58,2.58,2.55(T,T,T,T)",0.0002(T),0.219,2.047947,5.53,5.53,0.650000,2.775000,2.389000,0.754000,0.990000,1.000000,15.1875
synonymous_variant,UIMC1,SILENT,NM_001199297.1:p.Ile76Ile/c.228C>T,atC/atT,LOW,COSM3761130(2),0.577077,0.4911,rs1700490,,,,,,chr5,176402401,176402401,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile76Ile/c.228C>T|719|UIMC1|protein_coding|CODING|NM_001199297.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile76Ile/c.228C>T|719|UIMC1|protein_coding|CODING|NM_001199298.1|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile76Ile/c.228C>T|719|UIMC1|protein_coding|CODING|NM_016290.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.499,0.4366,0.4881,,,,,,,,,,,,,,,,,,,
missense_variant,FGFR4,MISSENSE,NM_002011.4:p.Val10Ile/c.28G>A,Gtc/Atc,MODERATE,,0.228834,0.5069,rs1966265,0.26(T),"0.0,0.0,0.001,0.0,0.0(B,B,B,B,B)",-0.69(N),-0.9739(T),,chr5,176516631,176516631,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val10Ile/c.28G>A|734|FGFR4|protein_coding|CODING|NM_001291980.1|2|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val10Ile/c.28G>A|802|FGFR4|protein_coding|CODING|NM_002011.4|2|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val10Ile/c.28G>A|762|FGFR4|protein_coding|CODING|NM_022963.3|1|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val10Ile/c.28G>A|802|FGFR4|protein_coding|CODING|NM_213647.2|2|1)","H1ESC:H3K36me3,HepG2:H3K4me2,GM06990:H3K27me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K79me2,HepG2:H3K27me3",,,,0.2137,0.3184,0.1799,,,,,,1.000(P),"-1.17,-0.84,-1.13,-2.39,-1.17,-1.17,0.9,-2.32,-1.17(T,T,T,D,T,T,T,D,T)",0.0000(T),0.227,-2.512008,4.63,-2.16,-1.652000,-0.406000,-0.136000,0.022000,0.612000,0.864000,1.5311
synonymous_variant,FGFR4,SILENT,NM_002011.4:p.Arg54Arg/c.162T>G,cgT/cgG,LOW,COSM3761132(1),0.775958,0.9772,rs446382,,,,,,chr5,176517461,176517461,T,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg54Arg/c.162T>G|734|FGFR4|protein_coding|CODING|NM_001291980.1|3|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg54Arg/c.162T>G|802|FGFR4|protein_coding|CODING|NM_002011.4|3|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg54Arg/c.162T>G|762|FGFR4|protein_coding|CODING|NM_022963.3|2|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg54Arg/c.162T>G|802|FGFR4|protein_coding|CODING|NM_213647.2|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9049,0.8084,0.6899,,,,,,,,,,,,,,,,,,,
missense_variant,FGFR4,MISSENSE,NM_002011.4:p.Pro136Leu/c.407C>T,cCc/cTc,MODERATE,,0.807308,1,rs376618,0.33(T),"0.001,0.002,0.001,0.0,0.0(B,B,B,B,B)",0(N),-0.9597(T),,chr5,176517797,176517797,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro136Leu/c.407C>T|734|FGFR4|protein_coding|CODING|NM_001291980.1|4|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro136Leu/c.407C>T|802|FGFR4|protein_coding|CODING|NM_002011.4|4|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro136Leu/c.407C>T|762|FGFR4|protein_coding|CODING|NM_022963.3|3|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro136Leu/c.407C>T|802|FGFR4|protein_coding|CODING|NM_213647.2|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1",,,,0.9039,0.8271,0.7396,,,,,0.126819(U),1.000(P),"-1.26,-1.01,-1.21,-1.26,-1.24,-1.24(T,T,T,T,T,T)",0.0000(T),0.1,-0.337075,5.01,2.85,0.313000,1.120000,1.658000,0.107000,0.018000,0.094000,9.6489
synonymous_variant,FGFR4,SILENT,NM_002011.4:p.Arg234Arg/c.702C>T,cgC/cgT,LOW,COSM4159759(1),0.807109,1,rs452885,,,,,,chr5,176518784,176518784,C,T,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg234Arg/c.702C>T|734|FGFR4|protein_coding|CODING|NM_001291980.1|6|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg234Arg/c.702C>T|802|FGFR4|protein_coding|CODING|NM_002011.4|6|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg234Arg/c.702C>T|762|FGFR4|protein_coding|CODING|NM_022963.3|5|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg234Arg/c.702C>T|802|FGFR4|protein_coding|CODING|NM_213647.2|6|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9039,0.8271,0.7396,,,,,,,,,,,,,,,,,,,
missense_variant,FGFR4,MISSENSE,NM_002011.4:p.Gly388Arg/c.1162G>A,Ggg/Agg,MODERATE,COSM1567768(4),0.299521,0.4633,rs351855,0.04(D),0.7(P),1.1(L),-0.8840(T),,chr5,176520243,176520243,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly388Arg/c.1162G>A|802|FGFR4|protein_coding|CODING|NM_002011.4|9|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly388Arg/c.1162G>A|802|FGFR4|protein_coding|CODING|NM_213647.2|9|1),intron_variant(MODIFIER|||c.1058-90G>A|762|FGFR4|protein_coding|CODING|NM_022963.3|7|1),intron_variant(MODIFIER|||c.1097+65G>A|734|FGFR4|protein_coding|CODING|NM_001291980.1|9|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K36me3",,RCV000017723.26,,0.3855,0.3098,0.2942,,,,,0.005687(N),0.000(P),"-1.67,-1.67(D,D)",0.0000(T),0.707,3.743077,4.29,4.29,0.561000,2.233000,4.235000,0.721000,0.911000,0.995000,11.2123
synonymous_variant,NSD1,SILENT,NM_022455.4:p.Leu2277Leu/c.6829T>C,Ttg/Ctg,LOW,COSM4003461(1),0.771366,0.4871,rs28580074,,,,,,chr5,176721198,176721198,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu2277Leu/c.6829T>C|2696|NSD1|protein_coding|CODING|NM_022455.4|23|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu2008Leu/c.6022T>C|2427|NSD1|protein_coding|CODING|NM_172349.2|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000082138.1|RCV000127260.1,,0.7352,0.7839,0.8807,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRELID1,SILENT,NM_013237.3:p.Arg150Arg/c.450A>G,cgA/cgG,LOW,COSM150020(3),0.77496,0.4901,rs4631,,,,-1.0457(T),,chr5,176733116,176733116,A,G,hom,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg150Arg/c.450A>G|208|PRELID1|protein_coding|CODING|NM_001271828.1|4|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg150Arg/c.450A>G|219|PRELID1|protein_coding|CODING|NM_013237.3|4|1),3_prime_UTR_variant(MODIFIER||1004|c.*1004T>C|193|MXD3|protein_coding|CODING|NM_001142935.1|6|1),downstream_gene_variant(MODIFIER||1090||206|MXD3|protein_coding|CODING|NM_031300.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.7362,0.7867,0.8817,,,,,,0.000(P),,0.0000(T),.,0.204248,4.27,1.13,-2.304000,-0.113000,0.348000,0.484000,0.997000,0.997000,4.5575
synonymous_variant,SLC34A1,SILENT,NM_003052.4:p.His258His/c.774T>C,caT/caC,LOW,COSM4159764(1),0.212859,0.2073,rs5030873,,,,,,chr5,176815124,176815124,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His258His/c.774T>C|340|SLC34A1|protein_coding|CODING|NM_001167579.1|7|1),synonymous_variant(LOW|SILENT|caT/caC|p.His258His/c.774T>C|639|SLC34A1|protein_coding|CODING|NM_003052.4|7|1)","H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2996,0.2637,0.331,,,,,,,,,,,,,,,,,,,
synonymous_variant,F12,SILENT,NM_000505.3:p.Pro237Pro/c.711C>T,ccC/ccT,LOW,COSM3761134(1),0.0091853,0,rs17876047,,,,,,chr5,176831589,176831589,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro237Pro/c.711C>T|615|F12|protein_coding|CODING|NM_000505.3|8|1),"K562:ZBTB7A,GM12878:Cmyc,NHEK:CTCF,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,K562:Znf263,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,HMEC:CTCF,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,K562:Rad21,K562:Yy1,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,HeLa-S3:E2F6,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.001,0.0086,0.0338,,,,,,,,,,,,,,,,,,,
missense_variant,F12,MISSENSE,NM_000505.3:p.Ala207Pro/c.619G>C,Gcc/Ccc,MODERATE,COSM449394(2),0.939497,0.8849,rs17876030,0.4(T),0.0(B),-0.165(N),-0.9695(T),,chr5,176831826,176831826,C,G,hom,missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala207Pro/c.619G>C|615|F12|protein_coding|CODING|NM_000505.3|7|1),"K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HeLa-S3:H3K9ac,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,CD4:H3K4me1,GM12878:PolII,HeLa-S3:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.9499,0.8833,0.9891,,,,,0.994547(N),1.000(P),-2.97(D),0.0000(T),0.041,-0.604838,5.04,2.08,-0.224000,0.264000,0.249000,0.001000,0.000000,0.000000,1.7259
missense_variant,DBN1,MISSENSE,NM_080881.2:p.Ser555Pro/c.1663T>C,Tcc/Ccc,MODERATE,,0.998802,1,rs28538572,1(T),"0.0,0.0,0.001(B,B,B)",-0.345(N),-0.9120(T),,chr5,176885178,176885178,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser553Pro/c.1657T>C|649|DBN1|protein_coding|CODING|NM_004395.3|12|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser555Pro/c.1663T>C|651|DBN1|protein_coding|CODING|NM_080881.2|13|1),downstream_gene_variant(MODIFIER||1895||274|PRR7|protein_coding|CODING|NM_001174102.1||1),downstream_gene_variant(MODIFIER||1891||274|PRR7|protein_coding|CODING|NM_001174101.1||1),downstream_gene_variant(MODIFIER||1891||274|PRR7|protein_coding|CODING|NM_030567.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.003707(N),1.000(P),"1.35,1.35,1.36,1.34,1.38(T,T,T,T,T)",0.0000(T),0.082,-1.312321,4.71,2.85,-0.355000,0.278000,0.119000,0.744000,0.985000,0.050000,1.4642
synonymous_variant,PDLIM7,SILENT,NM_005451.4:p.Pro249Pro/c.747G>A,ccG/ccA,LOW,COSM449400(1),0.4375,0.3889,rs335462,0.33(T),0.01(B),,-0.9381(T),,chr5,176916516,176916516,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro249Pro/c.747G>A|457|PDLIM7|protein_coding|CODING|NM_005451.4|9|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro215Pro/c.645G>A|423|PDLIM7|protein_coding|CODING|NM_203352.2|9|1),downstream_gene_variant(MODIFIER||731||222|PDLIM7|protein_coding|CODING|NM_213636.2||1),non_coding_exon_variant(MODIFIER|||n.1035G>A||PDLIM7||CODING|NR_103804.1|9|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,H1ESC:CTCF,GM06990:CTCF",,,,0.5,0.3761,0.5278,,,,,,0.000(P),"2.47,2.47(T,T)",0.0000(T),.,3.560441,5.23,-10.5,-0.378000,-1.901000,-5.689000,0.984000,0.695000,0.000000,3.1136
missense_variant,DOK3,MISSENSE,NM_001144875.1:p.Arg302Cys/c.904C>T,Cgc/Tgc,MODERATE,,0.988618,1,rs28376231,0.11(T),0.0(B),0(N),-1.0372(T),,chr5,176930135,176930135,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg302Cys/c.904C>T|330|DOK3|protein_coding|CODING|NM_001144875.1|6|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg200Cys/c.598C>T|228|DOK3|protein_coding|CODING|NM_001144876.1|5|1),downstream_gene_variant(MODIFIER||616||496|DOK3|protein_coding|CODING|NM_024872.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,0.999,,,,,,1.000(P),"0.56,0.5(T,T)",0.0000(T),0.01,0.112521,2.4,2.4,-0.817000,0.351000,-0.251000,0.040000,0.001000,0.000000,4.3753
missense_variant,DOK3,MISSENSE,NM_024872.2:p.Pro294Arg/c.881C>G,cCc/cGc,MODERATE,COSM3761137(1),0.0457268,0.0149,rs61749657,1(T),0.697(P),0.62(N),-0.8280(T),,chr5,176931594,176931594,G,C,het,"missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro294Arg/c.881C>G|496|DOK3|protein_coding|CODING|NM_024872.2|6|1),intron_variant(MODIFIER|||c.645+150C>G|330|DOK3|protein_coding|CODING|NM_001144875.1|5|1),intron_variant(MODIFIER|||c.339+150C>G|228|DOK3|protein_coding|CODING|NM_001144876.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.0922,0.0527,,,,,0.535246(N),1.000(N),"-1.48,-1.48(T,T)",0.0797(T),0.172,-1.529722,3.55,3.55,0.313000,1.805000,1.014000,0.013000,0.106000,0.620000,13.0678
synonymous_variant,DOK3,SILENT,NM_024872.2:p.Leu20Leu/c.60A>G,ctA/ctG,LOW,COSM4159777(1),0.993011,1,rs28565502,,,,,,chr5,176936650,176936650,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu20Leu/c.60A>G|496|DOK3|protein_coding|CODING|NM_024872.2|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||228|DOK3|protein_coding|CODING|NM_001144876.1|2|1),5_prime_UTR_variant(MODIFIER||109|c.-109A>G|228|DOK3|protein_coding|CODING|NM_001144876.1|2|1),downstream_gene_variant(MODIFIER||1928||622|DDX41|protein_coding|CODING|NM_016222.2||1),intron_variant(MODIFIER|||c.-35-74A>G|330|DOK3|protein_coding|CODING|NM_001144875.1|1|1)","K562:ZBTB7A,H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,GM12878:ELF1,GM06990:H3K4me3,HSMM:DNase1,GM12878:SP1,IMR90:H3K36me3,GM12878:EBF,K562:E2F6,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,K562:PU1,HSMM:H3K4me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:PU1,K562:SP1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,GM12878:Tcf12,K562:DNase1",,,,1,0.9986,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,DDX41,SILENT,NM_016222.2:p.Arg400Arg/c.1200C>T,cgC/cgT,LOW,COSM3761138(1),0.386382,0.2063,rs335438,,,,,,chr5,176940384,176940384,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg400Arg/c.1200C>T|622|DDX41|protein_coding|CODING|NM_016222.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.3199,0.4712,,,,,,,,,,,,,,,,,,,
missense_variant,FAM193B,MISSENSE,NM_001190946.1:p.Ser736Pro/c.2206T>C,Tca/Cca,MODERATE,COSM4159778(1),0.970847,1,rs337382,,,,-0.9311(T),,chr5,176951276,176951276,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser736Pro/c.2206T>C|822|FAM193B|protein_coding|CODING|NM_001190946.1|6|1),non_coding_exon_variant(MODIFIER|||n.3954T>C||FAM193B||CODING|NR_024019.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,0.999,,,,,,1.000(P),,0.0000(T),.,-0.208409,5.59,2.87,-0.215000,0.066000,0.014000,0.929000,0.989000,0.000000,8.9638
synonymous_variant,B4GALT7,SILENT,NM_007255.2:p.Arg73Arg/c.219T>C,cgT/cgC,LOW,COSM3761139(1),0.661342,0.7837,rs11537644,,,,,,chr5,177031348,177031348,T,C,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg73Arg/c.219T>C|327|B4GALT7|protein_coding|CODING|NM_007255.2|2|1),"HUVEC:H3K36me3,HeLa-S3:Tr4,IMR90:H3K36me3,HeLa-S3:Gabp,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K4me3,GM06990:H3K36me3",,,,0.5869,0.6859,0.6332,,,,,,,,,,,,,,,,,,,
synonymous_variant,B4GALT7,SILENT,NM_007255.2:p.His259His/c.777T>C,caT/caC,LOW,COSM3761140(1),0.605032,0.7937,rs729459,,,,,,chr5,177035964,177035964,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His259His/c.777T>C|327|B4GALT7|protein_coding|CODING|NM_007255.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4898,0.6153,0.5417,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM153A,SILENT,NM_173663.3:p.Gly159Gly/c.477T>C,ggT/ggC,LOW,COSM3774172(3),,,rs140979906,,,,,,chr5,177161891,177161891,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly159Gly/c.477T>C|310|FAM153A|protein_coding|CODING|NM_173663.3|12|1),"GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PROP1,MISSENSE,NM_006261.4:p.Asn20Ser/c.59A>G,aAc/aGc,MODERATE,,0.999401,1,rs7445271,0.84(T),0.0(B),-0.345(N),-0.9778(T),,chr5,177422876,177422876,T,C,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn20Ser/c.59A>G|226|PROP1|protein_coding|CODING|NM_006261.4|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.600775(N),1.000(P),-2.35(D),0.0000(T),0.015,-1.617258,2.39,1.48,-0.215000,0.122000,-0.489000,0.008000,0.059000,0.079000,3.7401
synonymous_variant,PROP1,SILENT,NM_006261.4:p.Ala9Ala/c.27T>C,gcT/gcC,LOW,COSM4159781(1),0.447684,0.5595,rs1135320,,,,,,chr5,177422908,177422908,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala9Ala/c.27T>C|226|PROP1|protein_coding|CODING|NM_006261.4|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.545,0.4942,0.4712,,,,,,,,,,,,,,,,,,,
synonymous_variant,N4BP3,SILENT,NM_015111.1:p.Ser133Ser/c.399T>C,agT/agC,LOW,,0.999601,1,rs7719667,,,,,,chr5,177547247,177547247,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser133Ser/c.399T>C|544|N4BP3|protein_coding|CODING|NM_015111.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,RMND5B,MISSENSE,NM_001288795.1:p.Ser13Asn/c.38G>A,aGt/aAt,MODERATE,,0.759585,0.7381,rs10060446,0.63(T),0.383(B),,-0.9322(T),,chr5,177562251,177562251,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser13Asn/c.38G>A|380|RMND5B|protein_coding|CODING|NM_001288795.1|3|1),5_prime_UTR_variant(MODIFIER||2870|c.-75G>A|393|RMND5B|protein_coding|CODING|NM_001288794.1|3|1),intron_variant(MODIFIER|||c.-12-2858G>A|393|RMND5B|protein_coding|CODING|NM_022762.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7945,0.8545,0.7913,,,,,,1.000(P),,0.0000(T),0.034,-2.221877,0.459,-0.917,-1.298000,-1.978000,-0.456000,0.010000,0.000000,0.004000,.
synonymous_variant,COL23A1,SILENT,NM_173465.3:p.Ala396Ala/c.1188G>A,gcG/gcA,LOW,,0.303115,0.2192,rs2913851,,,,,,chr5,177675217,177675217,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala396Ala/c.1188G>A|540|COL23A1|protein_coding|CODING|NM_173465.3|20|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3885,0.4409,0.4771,,,,,,,,,,,,,,,,,,,
missense_variant,COL23A1,MISSENSE,NM_173465.3:p.Thr287Ala/c.859A>G,Acg/Gcg,MODERATE,COSM449419(1),0.521765,0.4335,rs890802,0.76(T),0.023(B),-0.23(N),-1.0976(T),,chr5,177683377,177683377,T,C,het,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr287Ala/c.859A>G|540|COL23A1|protein_coding|CODING|NM_173465.3|15|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5041,0.5764,0.493,,,,,0.458564(N),1.000(P),"-1.64,-1.64(D,D)",0.0000(T),0.042,-0.469521,4.42,-8.84,-1.614000,-2.538000,-2.929000,0.002000,0.000000,0.000000,6.5388
synonymous_variant,ZNF354A,SILENT,NM_005649.2:p.Ser479Ser/c.1437A>C,tcA/tcC,LOW,COSM150023(3),0.285343,0.3343,rs1132338,,,,,,chr5,178139442,178139442,T,G,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser479Ser/c.1437A>C|605|ZNF354A|protein_coding|CODING|NM_005649.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.4192,0.2522,0.2813,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF354A,SILENT,NM_005649.2:p.Thr263Thr/c.789G>A,acG/acA,LOW,COSM150024(2),0.263179,0.3333,rs1132336,,,,,,chr5,178140090,178140090,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr263Thr/c.789G>A|605|ZNF354A|protein_coding|CODING|NM_005649.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4182,0.2464,0.2813,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF354B,SILENT,NM_058230.2:p.Gly81Gly/c.243T>C,ggT/ggC,LOW,COSM150026(1),0.302915,0.1538,rs11952817,,,,,,chr5,178294059,178294059,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly81Gly/c.243T>C|612|ZNF354B|protein_coding|CODING|NM_058230.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.226,0.3055,0.4254,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF354B,SILENT,NM_058230.2:p.Gly331Gly/c.993C>T,ggC/ggT,LOW,COSM150027(2),0.42512,0.247,rs4130052,,,,,,chr5,178310446,178310446,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly331Gly/c.993C>T|612|ZNF354B|protein_coding|CODING|NM_058230.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3599,0.4121,0.6133,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZFP2,SILENT,NM_030613.2:p.Gln274Gln/c.822A>G,caA/caG,LOW,,,,rs961030,,,,,,chr5,178359136,178359136,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln274Gln/c.822A>G|461|ZFP2|protein_coding|CODING|NM_030613.2|5|1),"K562:ZNF274,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF454,MISSENSE,NM_001178089.1:p.Cys152Tyr/c.455G>A,tGt/tAt,MODERATE,COSM3761146(1),0.271366,0.3403,rs6867221,0.17(T),0.01(B),0(N),-0.9084(T),,chr5,178391860,178391860,G,A,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys152Tyr/c.455G>A|522|ZNF454|protein_coding|CODING|NM_001178089.1|5|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys152Tyr/c.455G>A|522|ZNF454|protein_coding|CODING|NM_001178090.1|5|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys152Tyr/c.455G>A|522|ZNF454|protein_coding|CODING|NM_182594.2|5|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.3681,0.281,0.3131,,,,,0.001329(N),1.000(P),"3.75,3.75(T,T)",0.0000(T),0.117,0.772256,4.61,1.45,0.555000,0.153000,0.406000,0.016000,0.000000,0.000000,1.8445
missense_variant,ZNF454,MISSENSE,NM_001178089.1:p.Asp166Ala/c.497A>C,gAt/gCt,MODERATE,,0.660144,0.6597,rs12719860,0.54(T),0.0(B),0(N),-0.9700(T),,chr5,178391902,178391902,A,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp166Ala/c.497A>C|522|ZNF454|protein_coding|CODING|NM_001178089.1|5|1),missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp166Ala/c.497A>C|522|ZNF454|protein_coding|CODING|NM_001178090.1|5|1),missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp166Ala/c.497A>C|522|ZNF454|protein_coding|CODING|NM_182594.2|5|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.6319,0.6931,0.6869,,,,,0.000014(N),1.000(P),"3.22,3.22(T,T)",0.0000(T),0.043,-1.003612,4.55,0.689,-1.104000,0.063000,-0.173000,0.000000,0.000000,0.026000,0.8264
synonymous_variant,GRM6,SILENT,NM_000843.3:p.Gly464Gly/c.1392A>G,ggA/ggG,LOW,COSM4159789(2),0.535543,0.5863,rs11746675,,,,,,chr5,178413947,178413947,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly464Gly/c.1392A>G|877|GRM6|protein_coding|CODING|NM_000843.3|7|1),"H1ESC:H3K36me3,H1ESC:H3K9me3",,RCV000086026.1,,0.5143,0.6066,0.6382,,,,,,,,,,,,,,,,,,,
synonymous_variant,GRM6,SILENT,NM_000843.3:p.Thr436Thr/c.1308T>C,acT/acC,LOW,,0.986022,1,rs4701014,,,,,,chr5,178415982,178415982,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr436Thr/c.1308T>C|877|GRM6|protein_coding|CODING|NM_000843.3|6|1),,,,,1,0.9942,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,GRM6,SILENT,NM_000843.3:p.Tyr409Tyr/c.1227C>T,taC/taT,LOW,COSM1180460(3),,,rs2645339,,,,,,chr5,178416063,178416063,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr409Tyr/c.1227C>T|877|GRM6|protein_coding|CODING|NM_000843.3|6|1),,,RCV000086023.1,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,GRM6,SILENT,NM_000843.3:p.Asp377Asp/c.1131C>T,gaC/gaT,LOW,COSM4159791(2),0.721645,0.6974,rs2071246,,,,,,chr5,178416288,178416288,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp377Asp/c.1131C>T|877|GRM6|protein_coding|CODING|NM_000843.3|5|1),,,RCV000086022.1,,0.6759,0.6772,0.7455,,,,,,,,,,,,,,,,,,,
missense_variant,GRM6,MISSENSE,NM_000843.3:p.Gln59Pro/c.176A>C,cAg/cCg,MODERATE,COSM1580125(3),0.551917,0.5873,rs2645329,0.63(T),0.0(B),-0.915(N),-0.9131(T),,chr5,178421770,178421770,T,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln59Pro/c.176A>C|877|GRM6|protein_coding|CODING|NM_000843.3|1|1),"H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3",,RCV000079324.1|RCV000086034.1,,0.5317,0.5562,0.5924,,,,,,1.000(P),"-0.62,-0.62(T,T)",0.0000(T),0.121,0.729525,4.07,-2.42,-0.349000,-0.687000,-0.125000,0.819000,0.486000,0.000000,16.3557
synonymous_variant,ZNF354C,SILENT,NM_014594.1:p.Ala18Ala/c.54C>T,gcC/gcT,LOW,COSM3697178(1),0.00219649,0,rs116407910,,,,,,chr5,178503472,178503472,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala18Ala/c.54C>T|554|ZNF354C|protein_coding|CODING|NM_014594.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0,0.0072,0.006,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS2,SILENT,NM_014244.4:p.Asp844Asp/c.2532C>T,gaC/gaT,LOW,COSM1754219(3),0.129992,0.1002,rs2303644,,,,,,chr5,178555045,178555045,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp844Asp/c.2532C>T|1211|ADAMTS2|protein_coding|CODING|NM_014244.4|17|1),"H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.138,0.2061,0.2575,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS2,SILENT,NM_014244.4:p.Asp676Asp/c.2028C>T,gaC/gaT,LOW,COSM3761150(1),0.196486,0.0992,rs1972715,,,,,,chr5,178562967,178562967,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp676Asp/c.2028C>T|1211|ADAMTS2|protein_coding|CODING|NM_014244.4|13|1),IMR90:H3K36me3,,,,0.1391,0.2291,0.2594,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS2,SILENT,NM_014244.4:p.Ala262Ala/c.786G>A,gcG/gcA,LOW,COSM4159795(1),0.924521,0.994,rs423552,,,,,,chr5,178634619,178634619,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala262Ala/c.786G>A|1211|ADAMTS2|protein_coding|CODING|NM_014244.4|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala262Ala/c.786G>A|566|ADAMTS2|protein_coding|CODING|NM_021599.2|4|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.9213,0.9424,0.9095,,,,,,,,,,,,,,,,,,,
missense_variant,ADAMTS2,MISSENSE,NM_014244.4:p.Arg241His/c.722G>A,cGc/cAc,MODERATE,,0.071885,0.1052,rs11750821,0.64(T),"0.0,0.0(B,B)",0.41(N),-1.0765(T),,chr5,178634683,178634683,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg241His/c.722G>A|1211|ADAMTS2|protein_coding|CODING|NM_014244.4|4|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg241His/c.722G>A|566|ADAMTS2|protein_coding|CODING|NM_021599.2|4|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0716,0.0937,0.1044,,,,,0.785253(N),1.000(N),"0.12,0.05(T,T)",0.0037(T),0.07,-0.216993,5.49,-4.94,-3.259000,-1.704000,-0.826000,0.001000,0.000000,0.000000,7.9908
synonymous_variant,ADAMTS2,SILENT,NM_014244.4:p.Ser107Ser/c.321T>C,agT/agC,LOW,COSM3761158(1),,,rs2271212,,,,,,chr5,178770981,178770981,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser107Ser/c.321T>C|1211|ADAMTS2|protein_coding|CODING|NM_014244.4|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser107Ser/c.321T>C|566|ADAMTS2|protein_coding|CODING|NM_021599.2|2|1)","H1ESC:USF1,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,H1ESC:Rad21,IMR90:H3K4me3,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,RUFY1,SILENT,NM_025158.4:p.Leu680Leu/c.2040G>A,ctG/ctA,LOW,COSM4159801(1),0.271765,0.1706,rs17355294,,,,,,chr5,179036433,179036433,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu572Leu/c.1716G>A|600|RUFY1|protein_coding|CODING|NM_001040451.2|17|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu572Leu/c.1716G>A|600|RUFY1|protein_coding|CODING|NM_001040452.2|18|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu680Leu/c.2040G>A|708|RUFY1|protein_coding|CODING|NM_025158.4|18|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.1626,0.3084,0.4284,,,,,,,,,,,,,,,,,,,
missense_variant,C5orf60,MISSENSE,NM_001142306.1:p.Asp22His/c.64G>C,Gac/Cac,MODERATE,COSM449449(6),,,rs7731123,0.11(T),"0.651,0.651(P,P)",0(N),-1.0189(T),,chr5,179071958,179071958,C,G,het,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp22His/c.64G>C|277|C5orf60|protein_coding|CODING|NM_001142306.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(P),1.81(T),0.0383(T),0.333,-0.129222,0.362,-0.723,0.134000,-0.410000,-0.549000,0.069000,0.027000,0.006000,.
missense_variant,MAML1,MISSENSE,NM_014757.4:p.Gly97Arg/c.289G>C,Ggc/Cgc,MODERATE,COSM4159810(2),0.0177716,0,rs61751563,0.04(D),"0.846,0.003(P,B)",0.92(L),-1.1440(T),,chr5,179160402,179160402,G,C,het,"missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly97Arg/c.289G>C|1016|MAML1|protein_coding|CODING|NM_014757.4|1|1),downstream_gene_variant(MODIFIER||1763||592|CANX|protein_coding|CODING|NM_001024649.1||1),downstream_gene_variant(MODIFIER||1763||592|CANX|protein_coding|CODING|NM_001746.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.0133,0.0173,0.0586,,,,,0.036581(U),0.999(D),1.63(T),0.0140(T),0.316,1.810625,3.75,3.75,0.555000,1.905000,2.987000,0.131000,0.994000,1.000000,13.0898
synonymous_variant,SQSTM1,SILENT,NM_003900.4:p.Asp292Asp/c.876C>T,gaC/gaT,LOW,COSM4159814(1),0.69369,0.8442,rs4935,,,,,,chr5,179260153,179260153,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp208Asp/c.624C>T|356|SQSTM1|protein_coding|CODING|NM_001142298.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp208Asp/c.624C>T|356|SQSTM1|protein_coding|CODING|NM_001142299.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp292Asp/c.876C>T|440|SQSTM1|protein_coding|CODING|NM_003900.4|6|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6513,0.7349,0.5099,,,,,,,,,,,,,,,,,,,
synonymous_variant,SQSTM1,SILENT,NM_003900.4:p.Arg312Arg/c.936G>A,agG/agA,LOW,,0.58726,0.7937,rs4797,,,,,,chr5,179260213,179260213,G,A,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg228Arg/c.684G>A|356|SQSTM1|protein_coding|CODING|NM_001142298.1|7|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg228Arg/c.684G>A|356|SQSTM1|protein_coding|CODING|NM_001142299.1|7|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg312Arg/c.936G>A|440|SQSTM1|protein_coding|CODING|NM_003900.4|6|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6288,0.6945,0.503,,,,,,,,,,,,,,,,,,,
missense_variant,C5orf45,MISSENSE,NM_016175.3:p.Gln231Arg/c.692A>G,cAa/cGa,MODERATE,COSM1132189(2),0.687899,0.7629,rs10277,1(T),"0.0,0.0(B,B)",0.755(N),-0.9772(T),,chr5,179264731,179264731,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln176Arg/c.527A>G|288|C5orf45|protein_coding|CODING|NM_001017987.2|5|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln231Arg/c.692A>G|343|C5orf45|protein_coding|CODING|NM_016175.3|7|1),3_prime_UTR_variant(MODIFIER||1138|c.*1138T>C|356|SQSTM1|protein_coding|CODING|NM_001142298.1|9|1),3_prime_UTR_variant(MODIFIER||1138|c.*1138T>C|356|SQSTM1|protein_coding|CODING|NM_001142299.1|9|1),3_prime_UTR_variant(MODIFIER||1138|c.*1138T>C|440|SQSTM1|protein_coding|CODING|NM_003900.4|8|1)","H1ESC:H3K36me3,K562:PolII,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.7291,0.5189,,,,,0.638897(N),1.000(P),"3.27,3.27,3.27(T,T,T)",0.0000(T),0.056,-1.158248,4.67,-5.13,-2.286000,-1.779000,-4.992000,0.045000,0.009000,0.000000,7.9671
missense_variant,C5orf45,MISSENSE,NM_016175.3:p.Arg154Gly/c.460A>G,Agg/Ggg,MODERATE,COSM4005998(1),0.846845,0.8958,rs248248,0.26(T),"0.005,0.001,0.015,0.0,0.05(B,B,B,B,B)",0(N),-1.0479(T),,chr5,179267949,179267949,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg99Gly/c.295A>G|288|C5orf45|protein_coding|CODING|NM_001017987.2|4|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg154Gly/c.460A>G|343|C5orf45|protein_coding|CODING|NM_016175.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7924,0.8458,0.7097,,,,,0.309040(N),0.000(P),"2.02,2.02,2.02,2.12,2.02,1.37,3.19(T,T,T,T,T,T,T)",0.0000(T),0.044,1.299845,2.48,1.61,-0.957000,0.191000,0.596000,0.101000,0.907000,0.316000,5.1283
missense_variant,C5orf45,MISSENSE,NM_016175.3:p.Gln42Arg/c.125A>G,cAg/cGg,MODERATE,,,,rs1650893,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.205(N),-0.9749(T),,chr5,179280379,179280379,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln42Arg/c.125A>G|288|C5orf45|protein_coding|CODING|NM_001017987.2|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln42Arg/c.125A>G|343|C5orf45|protein_coding|CODING|NM_016175.3|2|1),splice_region_variant(LOW|||c.125A>G|288|C5orf45|protein_coding|CODING|NM_001017987.2|2|1),splice_region_variant(LOW|||c.125A>G|343|C5orf45|protein_coding|CODING|NM_016175.3|2|1)","H1ESC:H3K36me3,GM12878:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,,,,,,,,0.127081(N),0.000(P),"3.15,1.95,2.03,3.15,3.15,3.15(T,T,T,T,T,T)",0.0000(T),0.106,0.040529,4.03,2.25,-0.119000,0.281000,0.012000,0.812000,0.982000,0.211000,6.5112
synonymous_variant,C5orf45,SILENT,NM_016175.3:p.Cys15Cys/c.45C>T,tgC/tgT,LOW,COSM3761166(2),0.447284,0.7589,rs10060182,0(D),,,-1.0576(T),,chr5,179285752,179285752,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys15Cys/c.45C>T|288|C5orf45|protein_coding|CODING|NM_001017987.2|1|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys15Cys/c.45C>T|343|C5orf45|protein_coding|CODING|NM_016175.3|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,H1ESC:H3K36me3,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.5685,0.5706,0.2982,,,,,,0.000(P),1.54(T),0.0000(T),.,1.766751,3.43,1.62,0.561000,0.445000,1.018000,0.719000,0.998000,1.000000,8.1787
missense_variant,TBC1D9B,MISSENSE,NM_198868.2:p.Lys1119Thr/c.3356A>C,aAa/aCa,MODERATE,COSM4159815(1),0.576478,0.7748,rs30386,0.48(T),,1.5(L),-1.0338(T),,chr5,179290845,179290845,T,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys1102Thr/c.3305A>C|1233|TBC1D9B|protein_coding|CODING|NM_015043.3|21|1),missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys1119Thr/c.3356A>C|1250|TBC1D9B|protein_coding|CODING|NM_198868.2|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.636,0.67,0.4493,,,,,0.006703(N),1.000(P),0.98(T),0.0000(T),.,-0.642875,5.37,5.37,0.459000,2.027000,1.367000,0.024000,0.884000,0.835000,11.3822
synonymous_variant,RASGEF1C,SILENT,NM_175062.3:p.Tyr441Tyr/c.1323C>T,taC/taT,LOW,COSM4159818(1),0.826078,0.7966,rs7725201,,,,,,chr5,179529124,179529124,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr441Tyr/c.1323C>T|466|RASGEF1C|protein_coding|CODING|NM_175062.3|13|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9591,0.7882,0.7684,,,,,,,,,,,,,,,,,,,
synonymous_variant,GFPT2,SILENT,NM_005110.2:p.Ile636Ile/c.1908T>C,atT/atC,LOW,,0.711262,0.9048,rs1035411,,,,,,chr5,179729519,179729519,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile636Ile/c.1908T>C|682|GFPT2|protein_coding|CODING|NM_005110.2|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.6309,0.6527,0.6571,,,,,,,,,,,,,,,,,,,
synonymous_variant,GFPT2,SILENT,NM_005110.2:p.Tyr550Tyr/c.1650T>C,taT/taC,LOW,COSM1133018(2),0.201478,0.2173,rs73343449,,,,,,chr5,179734200,179734200,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr550Tyr/c.1650T>C|682|GFPT2|protein_coding|CODING|NM_005110.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2168,0.1297,0.2535,,,,,,,,,,,,,,,,,,,
synonymous_variant,FLT4,SILENT,NM_182925.4:p.Pro1066Pro/c.3198C>T,ccC/ccT,LOW,COSM3761170(2),0.240415,0.2619,rs1130378,,,,,,chr5,180043388,180043388,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1066Pro/c.3198C>T|1298|FLT4|protein_coding|CODING|NM_002020.4|23|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1066Pro/c.3198C>T|1363|FLT4|protein_coding|CODING|NM_182925.4|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3252,0.1888,0.2823,,,,,,,,,,,,,,,,,,,
missense_variant,FLT4,MISSENSE,NM_182925.4:p.His890Gln/c.2670C>G,caC/caG,MODERATE,COSM449470(3),0.582668,0.497,rs448012,0.29(T),"0.285,0.285(B,B)",-0.295(N),-0.9066(T),,chr5,180046344,180046344,G,C,het,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His890Gln/c.2670C>G|1298|FLT4|protein_coding|CODING|NM_002020.4|19|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His890Gln/c.2670C>G|1363|FLT4|protein_coding|CODING|NM_182925.4|19|1)","NHEK:CTCF,H1ESC:H3K9ac,H1ESC:TAF1,HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HSMM:CTCF,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,0.5746,0.7464,0.6531,,,,,,0.000(P),"-1.54,-1.54,-1.54(D,D,D)",0.0000(T),0.438,3.023122,4.0,1.22,0.455000,0.126000,3.431000,0.929000,0.987000,1.000000,8.8325
missense_variant,OR2Y1,MISSENSE,NM_001001657.1:p.Val200Leu/c.598G>C,Gtg/Ctg,MODERATE,,0.921326,1,rs10464105,0.08(T),0.765(P),1.355(L),-0.9028(T),,chr5,180166461,180166461,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val200Leu/c.598G>C|311|OR2Y1|protein_coding|CODING|NM_001001657.1|1|1),"GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9734,0.9712,0.9771,,,,,0.551299(N),1.000(P),8.58(T),0.0000(T),0.032,2.620866,4.41,0.535,0.511000,0.201000,1.806000,0.002000,0.001000,0.114000,4.7116
missense_variant,MGAT1,MISSENSE,NM_001114617.1:p.Leu435Pro/c.1304T>C,cTg/cCg,MODERATE,COSM449473(1),0.733027,0.5526,rs634501,0.27(T),0.003(B),-1.1(N),-0.9528(T),,chr5,180218668,180218668,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu435Pro/c.1304T>C|445|MGAT1|protein_coding|CODING|NM_001114617.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu435Pro/c.1304T>C|445|MGAT1|protein_coding|CODING|NM_001114618.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu435Pro/c.1304T>C|445|MGAT1|protein_coding|CODING|NM_001114619.1|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu435Pro/c.1304T>C|445|MGAT1|protein_coding|CODING|NM_001114620.1|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu435Pro/c.1304T>C|445|MGAT1|protein_coding|CODING|NM_002406.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8333,0.5576,0.7455,,,,,0.084227(N),0.995(P),"-1.68,-1.68,-1.68,-1.68,-1.68(D,D,D,D,D)",0.0000(T),0.049,-0.912114,4.96,3.79,-1.059000,0.470000,0.597000,0.025000,0.654000,0.001000,7.0726
missense_variant,ZFP62,MISSENSE,NM_001172638.1:p.Arg698Lys/c.2093G>A,aGg/aAg,MODERATE,,0.836661,0.9851,rs168726,0.07(T),0.0(B),-0.48(N),-0.9739(T),,chr5,180276402,180276402,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg698Lys/c.2093G>A|900|ZFP62|protein_coding|CODING|NM_001172638.1|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg665Lys/c.1994G>A|867|ZFP62|protein_coding|CODING|NM_152283.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8057,0.8804,0.7803,,,,,,1.000(P),"2.45,2.45,2.45(T,T,T)",0.0000(T),0.015,0.023861,4.56,4.56,-0.360000,1.075000,1.623000,0.037000,1.000000,0.720000,8.908
start_lost,ZFP62,MISSENSE,NM_152283.4:p.Met1?/c.3G>C,atG/atC,HIGH,,0.713658,0.9603,rs705441,0.14(T),0.0(B),0(N),-1.0528(T),ZFP62:0.50(2);,chr5,180278393,180278393,C,G,hom,"start_lost(HIGH|MISSENSE|atG/atC|p.Met1?/c.3G>C|867|ZFP62|protein_coding|CODING|NM_152283.4|3|1),missense_variant(MODERATE|MISSENSE|atG/atC|p.Met34Ile/c.102G>C|900|ZFP62|protein_coding|CODING|NM_001172638.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:H3K9me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7914,0.8343,0.7565,,,,,,0.000(P),"3.26,3.25,3.22,0.76,0.66(T,T,T,T,T)",0.0000(T),0.335,-0.054453,3.83,0.886,0.637000,0.175000,-0.183000,0.006000,0.028000,0.000000,2.8437
missense_variant,BTNL8,MISSENSE,NM_001040462.2:p.Thr143Ala/c.427A>G,Acg/Gcg,MODERATE,COSM4003478(1),0.432508,0.3462,rs2276995,0.34(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",0.75(N),-1.0106(T),,chr5,180338368,180338368,A,G,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr143Ala/c.427A>G|500|BTNL8|protein_coding|CODING|NM_001040462.2|3|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr27Ala/c.79A>G|384|BTNL8|protein_coding|CODING|NM_001159707.1|2|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr143Ala/c.427A>G|340|BTNL8|protein_coding|CODING|NM_001159708.1|3|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr18Ala/c.52A>G|375|BTNL8|protein_coding|CODING|NM_001159709.1|3|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr143Ala/c.427A>G|347|BTNL8|protein_coding|CODING|NM_024850.2|3|1),5_prime_UTR_variant(MODIFIER||126|c.-126A>G|316|BTNL8|protein_coding|CODING|NM_001159710.1|2|1)",HepG2:H3K27me3,,,,0.2648,0.4236,0.3757,,,,,,1.000(P),"3.31,3.31,3.31,3.31,3.31(T,T,T,T,T)",0.0000(T),0.023,0.737065,3.86,-5.37,-2.568000,-1.000000,-1.743000,0.003000,0.000000,0.000000,6.8869
synonymous_variant,BTNL8,SILENT,NM_001040462.2:p.Ser232Ser/c.696G>A,tcG/tcA,LOW,COSM1132184(2),0.440895,0.3462,rs3733756,,,,,,chr5,180374534,180374534,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser232Ser/c.696G>A|500|BTNL8|protein_coding|CODING|NM_001040462.2|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser116Ser/c.348G>A|384|BTNL8|protein_coding|CODING|NM_001159707.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser107Ser/c.321G>A|375|BTNL8|protein_coding|CODING|NM_001159709.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser48Ser/c.144G>A|316|BTNL8|protein_coding|CODING|NM_001159710.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser232Ser/c.696G>A|340|BTNL8|protein_coding|CODING|NM_001159708.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser232Ser/c.696G>A|347|BTNL8|protein_coding|CODING|NM_024850.2|4|1)",,,,,0.2689,0.4496,0.4036,,,,,,,,,,,,,,,,,,,
synonymous_variant,BTNL3,SILENT,NM_197975.2:p.Pro315Pro/c.945C>T,ccC/ccT,LOW,COSM4003482(1),0.461861,0.3621,rs7726150,,,,,,chr5,180432416,180432416,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro315Pro/c.945C>T|466|BTNL3|protein_coding|CODING|NM_197975.2|8|1),"HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.364,0.4856,0.4414,,,,,,,,,,,,,,,,,,,
synonymous_variant,BTNL9,SILENT,NM_152547.4:p.Asp3Asp/c.9C>T,gaC/gaT,LOW,COSM4003485(3),0.498203,0.3909,rs28677846,,,,,,chr5,180472498,180472498,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp3Asp/c.9C>T|535|BTNL9|protein_coding|CODING|NM_152547.4|2|1),"K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,K562:Znf263,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1,GM06990:CTCF",,,,0.3763,0.5216,0.5189,,,,,,,,,,,,,,,,,,,
synonymous_variant,BTNL9,SILENT,NM_152547.4:p.Pro8Pro/c.24A>G,ccA/ccG,LOW,COSM4003488(3),0.505192,0.3919,rs6894087,,,,,,chr5,180472513,180472513,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro8Pro/c.24A>G|535|BTNL9|protein_coding|CODING|NM_152547.4|2|1),"K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,K562:Znf263,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1,GM06990:CTCF",,,,0.3855,0.5245,0.5189,,,,,,,,,,,,,,,,,,,
synonymous_variant,BTNL9,SILENT,NM_152547.4:p.Thr331Thr/c.993G>T,acG/acT,LOW,COSM3749920(7),0.669728,0.7659,rs6601166,,,,,,chr5,180486247,180486247,G,T,hom,synonymous_variant(LOW|SILENT|acG/acT|p.Thr331Thr/c.993G>T|535|BTNL9|protein_coding|CODING|NM_152547.4|11|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.593,0.781,0.7376,,,,,,,,,,,,,,,,,,,
missense_variant,BTNL9,MISSENSE,NM_152547.4:p.Gly511Arg/c.1531G>C,Ggc/Cgc,MODERATE,COSM3947354(2),0.766174,0.7321,rs10068763,0.61(T),0.0(B),0.55(N),-1.0258(T),,chr5,180486785,180486785,G,C,het,missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly511Arg/c.1531G>C|535|BTNL9|protein_coding|CODING|NM_152547.4|11|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8528,0.6369,0.6471,,,,,0.262552(N),1.000(P),"1.09,1.06(T,T)",0.0000(T),0.05,-1.837085,4.54,-9.09,-3.538000,-2.458000,-4.312000,0.000000,0.000000,0.000000,2.6074
synonymous_variant,BTNL9,SILENT,NM_152547.4:p.Asp529Asp/c.1587C>T,gaC/gaT,LOW,COSM3761177(1),0.446885,0.5933,rs10054109,,,,,,chr5,180486841,180486841,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp529Asp/c.1587C>T|535|BTNL9|protein_coding|CODING|NM_152547.4|11|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5245,0.4755,0.4751,,,,,,,,,,,,,,,,,,,
missense_variant,TRIM7,MISSENSE,NM_203293.2:p.Gly363Ser/c.1087G>A,Ggc/Agc,MODERATE,COSM4159830(1),0.186901,0.2014,rs254460,0.93(T),"0.0,0.0(B,B)",-2.055(N),-0.9763(T),,chr5,180622615,180622615,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly363Ser/c.1087G>A|511|TRIM7|protein_coding|CODING|NM_203293.2|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly155Ser/c.463G>A|303|TRIM7|protein_coding|CODING|NM_203294.1|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly155Ser/c.463G>A|303|TRIM7|protein_coding|CODING|NM_203295.1|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly155Ser/c.463G>A|303|TRIM7|protein_coding|CODING|NM_203296.1|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly181Ser/c.541G>A|329|TRIM7|protein_coding|CODING|NM_203297.1|5|1)","HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NHEK:H3K36me3",,,,0.2679,0.1167,0.1769,,,,,0.000003(N),0.000(P),"3.06,3.06,3.06,3.06,3.06(T,T,T,T,T)",0.0000(T),0.046,0.594267,4.57,4.57,-0.380000,0.613000,2.480000,0.065000,0.990000,1.000000,8.4199
missense_variant,TRIM7,MISSENSE,NM_203293.2:p.Val258Ala/c.773T>C,gTt/gCt,MODERATE,COSM150034(1),0.532947,0.4732,rs416574,0.38(T),"0.0,0.0(B,B)",-0.69(N),-1.0819(T),,chr5,180626927,180626927,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val258Ala/c.773T>C|511|TRIM7|protein_coding|CODING|NM_203293.2|3|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val50Ala/c.149T>C|303|TRIM7|protein_coding|CODING|NM_203294.1|3|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val50Ala/c.149T>C|303|TRIM7|protein_coding|CODING|NM_203295.1|3|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val50Ala/c.149T>C|303|TRIM7|protein_coding|CODING|NM_203296.1|3|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val76Ala/c.227T>C|329|TRIM7|protein_coding|CODING|NM_203297.1|1|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4734,0.2709,0.2893,,,,,0.707336(N),1.000(P),"3.62,3.62,3.62,3.62,3.62(T,T,T,T,T)",0.0000(T),0.011,-0.224239,5.34,-0.916,-1.794000,-0.899000,-0.072000,0.024000,0.000000,0.000000,2.2804
missense_variant,TRIM7,MISSENSE,NM_203293.2:p.Gln95Glu/c.283C>G,Cag/Gag,MODERATE,,0.111621,0.1349,rs2770945,0.21(T),"0.546,0.054(P,B)",0.55(N),-1.0256(T),,chr5,180631828,180631828,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln95Glu/c.283C>G|221|TRIM7|protein_coding|CODING|NM_033342.3|1|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln95Glu/c.283C>G|511|TRIM7|protein_coding|CODING|NM_203293.2|1|1),upstream_gene_variant(MODIFIER||488||303|TRIM7|protein_coding|CODING|NM_203294.1||1),upstream_gene_variant(MODIFIER||488||303|TRIM7|protein_coding|CODING|NM_203295.1||1),upstream_gene_variant(MODIFIER||488||303|TRIM7|protein_coding|CODING|NM_203296.1||1)","H1ESC:H3K36me3,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,K562:TFIIIC-110,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1687,0.0937,0.175,,,,,0.001744(N),0.000(P),"-1.77,2.36(D,T)",0.0016(T),0.122,2.678603,3.2,3.2,0.205000,1.793000,2.063000,0.547000,0.987000,0.968000,7.8131
synonymous_variant,TRIM41,SILENT,NM_033549.4:p.Ala349Ala/c.1047G>A,gcG/gcA,LOW,,0.105232,0.0218,rs35719413,,,,,,chr5,180659796,180659796,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala349Ala/c.1047G>A|630|TRIM41|protein_coding|CODING|NM_033549.4|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala349Ala/c.1047G>A|518|TRIM41|protein_coding|CODING|NM_201627.2|3|1),non_coding_exon_variant(MODIFIER|||n.1784G>A||TRIM41||CODING|NR_045218.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0961,0.0375,0.0378,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRIM41,SILENT,NM_033549.4:p.Arg458Arg/c.1374G>C,cgG/cgC,LOW,COSM3761179(1),0.013778,0.001,rs185272,,,,,,chr5,180661256,180661256,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg458Arg/c.1374G>C|518|TRIM41|protein_coding|CODING|NM_201627.2|6|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg458Arg/c.1374G>C|630|TRIM41|protein_coding|CODING|NM_033549.4|6|1),non_coding_exon_variant(MODIFIER|||n.2088G>C||TRIM41||CODING|NR_045218.1|5|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.0051,0.0245,0.0427,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRIM52,SILENT,NM_032765.2:p.Leu201Leu/c.603G>A,ctG/ctA,LOW,COSM3761181(2),0.197284,0.0665,rs386620823,,,,,,chr5,180687212,180687212,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu201Leu/c.603G>A|297|TRIM52|protein_coding|CODING|NM_032765.2|1|1),upstream_gene_variant(MODIFIER||1001|||TRIM52-AS1||NON_CODING|NR_102759.1||1),upstream_gene_variant(MODIFIER||1001|||TRIM52-AS1||NON_CODING|NR_102760.1||1),upstream_gene_variant(MODIFIER||1001|||TRIM52-AS1||NON_CODING|NR_102761.1||1),upstream_gene_variant(MODIFIER||1001|||TRIM52-AS1||NON_CODING|NR_102762.1||1)","CD4:H3K9me1,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,K562:H3K9ac,CD4:H3K4me1,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.1718,0.1859,0.2256,,,,,,,,,,,,,,,,,,,
synonymous_variant,DUSP22,SILENT,NM_001286555.1:p.Pro191Pro/c.573G>A,ccG/ccA,LOW,,,,rs11242812,,,,-0.9902(T),,chr6,348906,348906,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro191Pro/c.573G>A|205|DUSP22|protein_coding|CODING|NM_001286555.1|7|1),intron_variant(MODIFIER|||c.508+65G>A|184|DUSP22|protein_coding|CODING|NM_020185.4|7|1),non_coding_exon_variant(MODIFIER|||n.1006G>A||DUSP22||CODING|NR_104473.1|6|1),non_coding_exon_variant(MODIFIER|||n.973G>A||DUSP22||CODING|NR_104474.1|6|1),non_coding_exon_variant(MODIFIER|||n.889G>A||DUSP22||CODING|NR_104475.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),,0.0161(T),.,-1.076643,4.8,-4.87,-1.773000,-1.120000,-0.683000,0.002000,0.000000,0.000000,2.6003
synonymous_variant,DUSP22,SILENT,NM_020185.4:p.Pro172Pro/c.516G>A,ccG/ccA,LOW,,,,rs1129085,,,,,,chr6,350829,350829,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro172Pro/c.516G>A|184|DUSP22|protein_coding|CODING|NM_020185.4|8|1),3_prime_UTR_variant(MODIFIER||1878|c.*1878G>A|205|DUSP22|protein_coding|CODING|NM_001286555.1|7|1),non_coding_exon_variant(MODIFIER|||n.2929G>A||DUSP22||CODING|NR_104473.1|6|1),non_coding_exon_variant(MODIFIER|||n.2896G>A||DUSP22||CODING|NR_104474.1|6|1),non_coding_exon_variant(MODIFIER|||n.2812G>A||DUSP22||CODING|NR_104475.1|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,0.36,0.45,0.31,,,,,,,,,,,,,,,,
missense_variant,HUS1B,MISSENSE,NM_148959.3:p.Asp268Tyr/c.802G>T,Gat/Tat,MODERATE,,0.740016,0.8581,rs1211554,0.02(D),0.331(B),1.645(L),-1.0165(T),,chr6,656143,656143,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp268Tyr/c.802G>T|278|HUS1B|protein_coding|CODING|NM_148959.3|1|1),intron_variant(MODIFIER|||n.285+1020G>T||EXOC2||CODING|NR_073064.1|3|1),intron_variant(MODIFIER|||c.-43-18282G>T|924|EXOC2|protein_coding|CODING|NM_018303.5|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7843,0.8718,0.8996,0.76,0.49,0.90,,0.000112(U),0.000(P),2.55(T),0.0122(T),0.274,1.362715,3.73,-0.327,-0.181000,-0.203000,2.279000,0.261000,0.009000,0.961000,3.1424
synonymous_variant,HUS1B,SILENT,NM_148959.3:p.Gly45Gly/c.135T>C,ggT/ggC,LOW,,0.0854633,0.129,rs61748571,,,,,,chr6,656810,656810,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly45Gly/c.135T>C|278|HUS1B|protein_coding|CODING|NM_148959.3|1|1),intron_variant(MODIFIER|||n.285+353T>C||EXOC2||CODING|NR_073064.1|3|1),intron_variant(MODIFIER|||c.-43-18949T>C|924|EXOC2|protein_coding|CODING|NM_018303.5|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.0548,0.0477,0.05,0.03,0.05,,,,,,,,,,,,,,,,
missense_variant,FOXQ1,MISSENSE,NM_033260.3:p.Thr60Pro/c.178A>C,Acg/Ccg,MODERATE,,0.829673,0.6478,rs9502889,0.28(T),0.0(B),0(N),-1.0044(T),,chr6,1313117,1313117,A,C,hom,missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr60Pro/c.178A>C|403|FOXQ1|protein_coding|CODING|NM_033260.3|1|1),"NHEK:H3K9ac,HeLa-S3:DNase1,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,HeLa-S3:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8742,0.817,0.9811,0.94,0.88,0.98,,0.800158(N),1.000(P),0.97(T),0.0181(T),0.02,-0.359998,2.88,1.96,-0.506000,0.431000,-0.022000,0.029000,0.011000,0.000000,2.761
missense_variant,FOXQ1,MISSENSE,NM_033260.3:p.Gln61Pro/c.182A>C,cAg/cCg,MODERATE,COSM4160184(1),0.829673,0.6478,rs9502890,0.28(T),0.0(B),0(N),-1.0820(T),,chr6,1313121,1313121,A,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln61Pro/c.182A>C|403|FOXQ1|protein_coding|CODING|NM_033260.3|1|1),"NHEK:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,HeLa-S3:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8742,0.817,0.9811,0.94,0.87,0.97,,0.026822(N),1.000(P),0.99(T),0.0145(T),0.028,-0.605630,3.01,-6.03,-1.043000,-1.850000,-0.174000,0.006000,0.000000,0.018000,2.125
missense_variant,FOXQ1,MISSENSE,NM_033260.3:p.Glu338Gly/c.1013A>G,gAg/gGg,MODERATE,COSM4160185(4),0.6248,0.5843,rs992327,0.43(T),0.0(B),-0.55(N),-1.0242(T),,chr6,1313952,1313952,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu338Gly/c.1013A>G|403|FOXQ1|protein_coding|CODING|NM_033260.3|1|1),"NHEK:CTCF,HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HepG2:PolII,NH-A:H3K27me3,HepG2:HEY1,HeLa-S3:CTCF,HUVEC:DNase1,HMEC:CTCF,HepG2:HNF4A,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,0.5164,0.6988,0.5586,,,,,0.367326(N),1.000(P),-3.14(D),0.2226(T),0.023,-1.430686,3.55,2.67,-1.444000,0.150000,-0.034000,0.000000,0.000000,0.000000,6.2344
synonymous_variant,GMDS,SILENT,NM_001500.3:p.Asp266Asp/c.798T>C,gaT/gaC,LOW,COSM3761701(1),0.486821,0.6607,rs3734739,,,,,,chr6,1742794,1742794,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp236Asp/c.708T>C|342|GMDS|protein_coding|CODING|NM_001253846.1|8|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp266Asp/c.798T>C|372|GMDS|protein_coding|CODING|NM_001500.3|8|1)","IMR90:H3K36me3,HepG2:H3K36me3",,,,0.5849,0.4726,0.4901,0.41,0.31,0.45,,,,,,,,,,,,,,,,
synonymous_variant,C6orf195,SILENT,NM_152554.2:p.Cys79Cys/c.237C>T,tgC/tgT,LOW,COSM4160450(1),0.323682,0.4921,rs6902511,,,,,,chr6,2623820,2623820,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys79Cys/c.237C>T|127|C6orf195|protein_coding|CODING|NM_152554.2|3|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,GM12878:H3K36me3,HSMM:DNase1,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HeLa-S3:Cfos,HepG2:H3K27me3",,,,0.5143,0.3876,0.2922,0.22,0.07,0.29,,,,,,,,,,,,,,,,
missense_variant,C6orf195,MISSENSE,NM_152554.2:p.Ile2Phe/c.4A>T,Atc/Ttc,MODERATE,,0.151158,0.2679,rs17135340,0(D),0.078(B),0(N),-1.0118(T),,chr6,2624053,2624053,T,A,het,missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile2Phe/c.4A>T|127|C6orf195|protein_coding|CODING|NM_152554.2|3|1),"HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,GM12878:H3K36me3,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.135,0.1182,0.1909,0.16,0.08,0.20,,,1.000(P),1.14(T),0.0105(T),0.076,-0.261142,1.14,-2.28,0.402000,-0.811000,-1.464000,0.025000,0.001000,0.000000,2.3353
synonymous_variant,WRNIP1,SILENT,NM_020135.2:p.Gly96Gly/c.288T>C,ggT/ggC,LOW,COSM4160463(1),0.356629,0.3611,rs17851692,,,,,,chr6,2766144,2766144,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly96Gly/c.288T>C|665|WRNIP1|protein_coding|CODING|NM_020135.2|1|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly96Gly/c.288T>C|640|WRNIP1|protein_coding|CODING|NM_130395.2|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,CD4:H4K20me1,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.4601,0.3199,0.3241,0.24,0.23,0.24,,,,,,,,,,,,,,,,
synonymous_variant,WRNIP1,SILENT,NM_020135.2:p.Ser203Ser/c.609T>C,agT/agC,LOW,COSM4160465(2),0.428315,0.4345,rs8333,,,,,,chr6,2766465,2766465,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser203Ser/c.609T>C|665|WRNIP1|protein_coding|CODING|NM_020135.2|1|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser203Ser/c.609T>C|640|WRNIP1|protein_coding|CODING|NM_130395.2|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.59,0.3991,0.4682,,,,,,,,,,,,,,,,,,,
missense_variant,SERPINB6,MISSENSE,NM_001271823.1:p.Met109Val/c.325A>G,Atg/Gtg,MODERATE,COSM4160492(1),0.212859,0.2728,rs2295769,1(T),0.004(B),-0.165(N),-1.0636(T),,chr6,2955802,2955802,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met94Val/c.280A>G|380|SERPINB6|protein_coding|CODING|NM_001195291.2|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met104Val/c.310A>G|390|SERPINB6|protein_coding|CODING|NM_001271822.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met109Val/c.325A>G|395|SERPINB6|protein_coding|CODING|NM_001271823.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met90Val/c.268A>G|376|SERPINB6|protein_coding|CODING|NM_001271824.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met90Val/c.268A>G|376|SERPINB6|protein_coding|CODING|NM_001271825.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met90Val/c.268A>G|376|SERPINB6|protein_coding|CODING|NM_001297699.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met90Val/c.268A>G|376|SERPINB6|protein_coding|CODING|NM_001297700.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met90Val/c.268A>G|376|SERPINB6|protein_coding|CODING|NM_004568.5|3|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000037108.1,,0.2863,0.2464,0.2992,0.22,0.07,0.30,,0.040170(N),1.000(P),"-1.79,-1.79,-1.79,-1.79,-1.79,-1.79(D,D,D,D,D,D)",0.1027(T),0.263,-0.603400,4.97,3.8,0.459000,0.984000,2.224000,0.284000,0.002000,0.032000,9.206
synonymous_variant,SERPINB6,SILENT,NM_001271823.1:p.Thr37Thr/c.111G>A,acG/acA,LOW,COSM150035(2),0.341254,0.4841,rs2236277,,,,-1.0149(T),,chr6,2959513,2959513,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr22Thr/c.66G>A|380|SERPINB6|protein_coding|CODING|NM_001195291.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr32Thr/c.96G>A|390|SERPINB6|protein_coding|CODING|NM_001271822.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr37Thr/c.111G>A|395|SERPINB6|protein_coding|CODING|NM_001271823.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr18Thr/c.54G>A|376|SERPINB6|protein_coding|CODING|NM_001271824.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr18Thr/c.54G>A|376|SERPINB6|protein_coding|CODING|NM_001271825.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr18Thr/c.54G>A|376|SERPINB6|protein_coding|CODING|NM_001297699.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr18Thr/c.54G>A|376|SERPINB6|protein_coding|CODING|NM_001297700.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr18Thr/c.54G>A|376|SERPINB6|protein_coding|CODING|NM_004568.5|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000037111.1,,0.3742,0.4539,0.338,0.27,0.18,0.32,,,0.999(P),,0.0289(T),.,0.614766,5.11,-1.14,0.591000,-0.034000,-0.626000,0.860000,0.317000,0.000000,4.0275
missense_variant,NQO2,MISSENSE,NM_000904.4:p.Lys16Arg/c.47A>G,aAg/aGg,MODERATE,,0.0305511,0.002,rs28383623,1(T),"0.001,0.003(B,B)",-0.035(N),-0.9729(T),,chr6,3010298,3010298,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys16Arg/c.47A>G|231|NQO2|protein_coding|CODING|NM_000904.4|3|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys16Arg/c.47A>G|231|NQO2|protein_coding|CODING|NM_001290221.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys16Arg/c.47A>G|193|NQO2|protein_coding|CODING|NM_001290222.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0041,0.0288,0.0497,0.04,0.05,0.04,,0.126042(N),1.000(N),"3.12,2.92,2.92,3.12,3.12,3.12,3.12,3.12(T,T,T,T,T,T,T,T)",0.0027(T),0.138,-0.026748,5.63,-7.48,-0.213000,-1.518000,-1.029000,0.014000,0.010000,0.000000,10.0735
missense_variant,NQO2,MISSENSE,NM_000904.4:p.Leu47Phe/c.139C>T,Ctt/Ttt,MODERATE,,0.797524,0.6558,rs1143684,1(T),"0.0,0.002(B,B)",-3.395(N),-0.9623(T),,chr6,3010390,3010390,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu47Phe/c.139C>T|231|NQO2|protein_coding|CODING|NM_000904.4|3|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu47Phe/c.139C>T|231|NQO2|protein_coding|CODING|NM_001290221.1|6|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu47Phe/c.139C>T|193|NQO2|protein_coding|CODING|NM_001290222.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7198,0.768,0.7893,0.84,0.96,0.78,,0.000000(N),1.000(P),"3.34,3.34,3.34,3.34,3.34,3.34,3.34,3.34(T,T,T,T,T,T,T,T)",0.0007(T),0.262,-0.649564,5.63,5.63,-0.360000,0.967000,5.048000,0.159000,0.988000,1.000000,9.6892
synonymous_variant,NQO2,SILENT,NM_000904.4:p.Pro110Pro/c.330A>G,ccA/ccG,LOW,,0.757388,0.6538,rs1049115,,,,,,chr6,3015790,3015790,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro110Pro/c.330A>G|231|NQO2|protein_coding|CODING|NM_000904.4|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro110Pro/c.330A>G|231|NQO2|protein_coding|CODING|NM_001290221.1|8|1),intron_variant(MODIFIER|||c.304-1328A>G|193|NQO2|protein_coding|CODING|NM_001290222.1|4|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6902,0.7334,0.7147,0.78,0.90,0.72,,,,,,,,,,,,,,,,
synonymous_variant,NQO2,SILENT,NM_000904.4:p.Ser146Ser/c.438C>T,tcC/tcT,LOW,,0.0309505,0,rs1130428,,,,,,chr6,3017138,3017138,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser146Ser/c.438C>T|231|NQO2|protein_coding|CODING|NM_000904.4|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser146Ser/c.438C>T|231|NQO2|protein_coding|CODING|NM_001290221.1|9|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser108Ser/c.324C>T|193|NQO2|protein_coding|CODING|NM_001290222.1|5|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0041,0.0288,0.0497,0.04,0.05,0.04,,,,,,,,,,,,,,,,
synonymous_variant,RIPK1,SILENT,NM_003804.3:p.Phe28Phe/c.84T>C,ttT/ttC,LOW,,0.848842,0.7262,rs2272990,,,,,,chr6,3077141,3077141,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe28Phe/c.84T>C|671|RIPK1|protein_coding|CODING|NM_003804.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9335,0.8977,0.9344,0.91,0.82,0.96,,,,,,,,,,,,,,,,
missense_variant,PSMG4,MISSENSE,NM_001128592.1:p.Trp99Arg/c.295T>C,Tgg/Cgg,MODERATE,,0.616014,0.6647,rs4959786,0.31(T),0.075(B),0(N),-0.9861(T),,chr6,3264487,3264487,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp99Arg/c.295T>C|162|PSMG4|protein_coding|CODING|NM_001128592.1|3|1),downstream_gene_variant(MODIFIER||390||104|PSMG4|protein_coding|CODING|NM_001135750.1||1),intron_variant(MODIFIER|||c.250+494T>C|123|PSMG4|protein_coding|CODING|NM_001128591.1|2|1)","CD4:H3K9me1,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.7651,0.8429,0.67,0.38,0.80,,,1.000(P),,0.0200(T),0.022,-2.089720,3.06,0.595,-2.444000,-0.142000,-1.297000,0.001000,0.000000,0.000000,6.8245
missense_variant,PSMG4,MISSENSE,NM_001128592.1:p.Gly104Arg/c.310G>C,Ggt/Cgt,MODERATE,,0.61222,0.6647,rs4959787,0.19(T),0.04(B),0(N),-0.9789(T),,chr6,3264502,3264502,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly104Arg/c.310G>C|162|PSMG4|protein_coding|CODING|NM_001128592.1|3|1),downstream_gene_variant(MODIFIER||405||104|PSMG4|protein_coding|CODING|NM_001135750.1||1),intron_variant(MODIFIER|||c.250+509G>C|123|PSMG4|protein_coding|CODING|NM_001128591.1|2|1)","CD4:H3K9me1,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.7651,0.8419,0.67,0.36,0.80,,,1.000(P),,0.0127(T),0.061,1.926440,3.73,-1.64,0.563000,-0.355000,-0.020000,0.001000,0.000000,0.000000,1.2288
missense_variant,PSMG4,MISSENSE,NM_001128592.1:p.Leu112Phe/c.334C>T,Ctt/Ttt,MODERATE,COSM1443451(2),0.532149,0.5635,rs4959788,0(D),0.0(B),0(N),-0.9969(T),,chr6,3264526,3264526,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu112Phe/c.334C>T|162|PSMG4|protein_coding|CODING|NM_001128592.1|3|1),downstream_gene_variant(MODIFIER||429||104|PSMG4|protein_coding|CODING|NM_001135750.1||1),intron_variant(MODIFIER|||c.250+533C>T|123|PSMG4|protein_coding|CODING|NM_001128591.1|2|1)","CD4:H3K9me1,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6135,0.7464,0.832,0.40,0.04,0.55,,,1.000(P),,0.0181(T),0.038,-0.811136,3.38,-3.28,0.462000,-0.816000,0.019000,0.001000,0.000000,0.000000,5.5524
missense_variant,PSMG4,MISSENSE,NM_001128592.1:p.Leu112Pro/c.335T>C,cTt/cCt,MODERATE,COSM1443453(3),0.617212,0.6647,rs4959789,0(D),0.0(B),0(N),-1.0201(T),,chr6,3264527,3264527,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu112Pro/c.335T>C|162|PSMG4|protein_coding|CODING|NM_001128592.1|3|1),downstream_gene_variant(MODIFIER||430||104|PSMG4|protein_coding|CODING|NM_001135750.1||1),intron_variant(MODIFIER|||c.250+534T>C|123|PSMG4|protein_coding|CODING|NM_001128591.1|2|1)","CD4:H3K9me1,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.7651,0.8429,,,,,,1.000(P),,0.0182(T),0.048,-0.207044,3.38,0.507,-1.212000,-0.132000,-0.672000,0.001000,0.000000,0.000000,2.7921
synonymous_variant,SLC22A23,SILENT,NM_015482.1:p.Ser507Ser/c.1521A>G,tcA/tcG,LOW,COSM4161046(1),0.860823,0.6815,rs6910086,,,,,,chr6,3287118,3287118,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser226Ser/c.678A>G|405|SLC22A23|protein_coding|CODING|NM_001286455.1|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser507Ser/c.1521A>G|686|SLC22A23|protein_coding|CODING|NM_015482.1|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser226Ser/c.678A>G|405|SLC22A23|protein_coding|CODING|NM_021945.6|8|1),non_coding_exon_variant(MODIFIER|||n.1115A>G||SLC22A23||CODING|NR_104448.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7802,0.8775,0.9533,0.95,0.97,0.94,,,,,,,,,,,,,,,,
missense_variant,PXDC1,MISSENSE,NM_183373.3:p.Gln184His/c.552G>C,caG/caC,MODERATE,COSM4004032(1),0.650958,0.6131,rs226959,0.2(T),0.0(B),-1.245(N),-0.9554(T),,chr6,3727811,3727811,C,G,hom,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln184His/c.552G>C|231|PXDC1|protein_coding|CODING|NM_183373.3|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6912,0.572,0.662,0.66,0.65,0.66,,0.000464(N),1.000(P),1.59(T),0.0079(T),0.221,1.268889,5.41,4.51,-0.126000,0.626000,0.981000,0.762000,0.664000,1.000000,4.7167
missense_variant,PRPF4B,MISSENSE,NM_003913.4:p.Ile83Val/c.247A>G,Att/Gtt,MODERATE,,0.715455,0.7877,rs9503893,0.69(T),0.0(B),-0.205(N),-1.0446(T),,chr6,4031998,4031998,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile83Val/c.247A>G|1007|PRPF4B|protein_coding|CODING|NM_003913.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6861,0.7277,0.6352,0.69,0.75,0.67,,0.326098(N),1.000(P),"-0.18,-0.18(T,T)",0.0323(T),0.018,-1.937150,5.4,2.64,-0.355000,0.014000,1.462000,0.567000,0.262000,0.518000,7.1493
missense_variant,FAM217A,MISSENSE,NM_173563.2:p.Val431Ile/c.1291G>A,Gtc/Atc,MODERATE,COSM4004038(1),0.545927,0.6458,rs595413,0.23(T),0.069(B),1.555(L),-0.9918(T),,chr6,4069166,4069166,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val431Ile/c.1291G>A|508|FAM217A|protein_coding|CODING|NM_173563.2|7|1),,,,,0.7342,0.634,0.7406,0.56,0.22,0.74,,0.525834(N),1.000(P),2.03(T),0.0150(T),0.113,0.395009,4.66,0.752,0.460000,-0.051000,0.212000,0.247000,0.012000,0.299000,4.9623
missense_variant,FAM217A,MISSENSE,NM_173563.2:p.Ala258Thr/c.772G>A,Gct/Act,MODERATE,,0.296725,0.3542,rs639905,1(T),0.001(B),-2.125(N),-0.9774(T),,chr6,4069685,4069685,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala258Thr/c.772G>A|508|FAM217A|protein_coding|CODING|NM_173563.2|7|1),K562:DNase1,,,,0.1922,0.2997,0.1889,0.25,0.39,0.18,,0.196476(N),1.000(P),2.17(T),0.0023(T),0.254,-1.188431,5.43,-1.11,-2.248000,-0.624000,0.226000,0.672000,0.002000,0.004000,5.6412
missense_variant,C6orf201,MISSENSE,NM_001085401.2:p.Arg20Pro/c.59G>C,cGc/cCc,MODERATE,COSM4004039(1),0.269169,0.3591,rs619483,0.1(T),"0.001,0.001(B,B)",0(N),-0.9459(T),,chr6,4087934,4087934,G,C,het,"missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg20Pro/c.59G>C|140|C6orf201|protein_coding|CODING|NM_001085401.2|2|1),intron_variant(MODIFIER|||n.475+8020G>C||C6orf201||CODING|NR_104464.1|1|1),non_coding_exon_variant(MODIFIER|||n.827G>C||C6orf201||CODING|NR_104463.1|2|1)","GM12878:H3K36me3,HepG2:H3K27me3",,,,0.1401,0.2896,0.1938,0.22,0.33,0.17,,0.733497(N),1.000(P),"1.97,1.97,1.97,1.97(T,T,T,T)",0.0080(T),0.241,1.335190,4.28,0.147,-0.360000,-0.010000,0.090000,0.007000,0.001000,0.000000,2.5131
missense_variant,ECI2,MISSENSE,NM_206836.2:p.Ala344Val/c.1031C>T,gCc/gTc,MODERATE,COSM4004040(1),0.308107,0.3581,rs7166,0.1(T),0.011(B),1.52(L),-1.0573(T),,chr6,4116262,4116262,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala314Val/c.941C>T|364|ECI2|protein_coding|CODING|NM_001166010.1|10|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala314Val/c.941C>T|364|ECI2|protein_coding|CODING|NM_006117.2|10|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala344Val/c.1031C>T|394|ECI2|protein_coding|CODING|NM_206836.2|10|1),splice_region_variant(LOW|||c.941C>T|364|ECI2|protein_coding|CODING|NM_001166010.1|10|1),splice_region_variant(LOW|||c.941C>T|364|ECI2|protein_coding|CODING|NM_006117.2|10|1),splice_region_variant(LOW|||c.1031C>T|394|ECI2|protein_coding|CODING|NM_206836.2|10|1),splice_region_variant(LOW|||n.1129C>T||ECI2||CODING|NR_028588.1|11|1),intron_variant(MODIFIER|||c.285-5921G>A|140|C6orf201|protein_coding|CODING|NM_001085401.2|3|1),intron_variant(MODIFIER|||n.675-5921G>A||C6orf201||CODING|NR_104464.1|2|1),intron_variant(MODIFIER|||n.1309+365G>A||C6orf201||CODING|NR_104463.1|4|1),non_coding_exon_variant(MODIFIER|||n.1129C>T||ECI2||CODING|NR_028588.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2188,0.3573,0.332,0.30,0.28,0.30,,0.049892(N),0.000(P),"0.68,0.68,0.68,0.68,0.68(T,T,T,T,T)",0.0557(T),0.185,2.814243,5.44,3.6,0.655000,1.293000,4.146000,0.830000,0.820000,0.994000,10.1077
missense_variant,C6orf201,MISSENSE,NM_001085401.2:p.Asn117Lys/c.351C>A,aaC/aaA,MODERATE,,0.321486,0.3591,rs643232,0.97(T),"0.0,0.0(B,B)",0(N),-1.0630(T),,chr6,4122249,4122249,C,A,het,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn117Lys/c.351C>A|140|C6orf201|protein_coding|CODING|NM_001085401.2|4|1),intron_variant(MODIFIER|||c.706-2740G>T|364|ECI2|protein_coding|CODING|NM_001166010.1|7|1),intron_variant(MODIFIER|||c.706-2740G>T|364|ECI2|protein_coding|CODING|NM_006117.2|7|1),intron_variant(MODIFIER|||c.796-2740G>T|394|ECI2|protein_coding|CODING|NM_206836.2|7|1),intron_variant(MODIFIER|||n.894-2740G>T||ECI2||CODING|NR_028588.1|8|1),non_coding_exon_variant(MODIFIER|||n.1376C>A||C6orf201||CODING|NR_104463.1|5|1),non_coding_exon_variant(MODIFIER|||n.741C>A||C6orf201||CODING|NR_104464.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2188,0.3602,0.332,0.31,0.33,0.30,,,1.000(P),"2.01,2.01,0.73,2.01,1.81(T,T,T,T,T)",0.0087(T),0.026,-2.123401,2.54,-1.7,-0.363000,-0.784000,0.085000,0.003000,0.000000,0.000000,4.3166
synonymous_variant,PPP1R3G,SILENT,NM_001145115.2:p.Ala117Ala/c.351A>G,gcA/gcG,LOW,COSM3762124(3),1,1,rs667752,,,,,,chr6,5086070,5086070,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala117Ala/c.351A>G|358|PPP1R3G|protein_coding|CODING|NM_001145115.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K4me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,PPP1R3G,SILENT,NM_001145115.2:p.Leu164Leu/c.492G>C,ctG/ctC,LOW,COSM4161278(1),1,1,rs584962,,,,,,chr6,5086211,5086211,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu164Leu/c.492G>C|358|PPP1R3G|protein_coding|CODING|NM_001145115.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,PPP1R3G,MISSENSE,NM_001145115.2:p.Pro280Gln/c.839C>A,cCg/cAg,MODERATE,COSM3749982(8),0.799321,0.8998,rs436556,0.3(T),0.034(B),0.49(N),-1.0302(T),,chr6,5086558,5086558,C,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro280Gln/c.839C>A|358|PPP1R3G|protein_coding|CODING|NM_001145115.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8701,0.7752,0.8191,0.78,0.68,0.82,,,1.000(P),0.5(T),0.0310(T),0.036,-2.056471,5.01,-2.24,-1.540000,-0.321000,-0.449000,0.003000,0.001000,0.000000,5.9814
synonymous_variant,F13A1,SILENT,NM_000129.3:p.Pro332Pro/c.996A>C,ccA/ccC,LOW,,0.0934505,0.006,rs5981,,,,-1.0182(T),,chr6,6222382,6222382,T,G,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro332Pro/c.996A>C|732|F13A1|protein_coding|CODING|NM_000129.3|8|1),"K562:CTCF,HSMM:H3K36me3,HSMM:DNase1",,,,0.1268,0.121,0.1839,0.16,0.08,0.20,,,0.000(P),,0.0326(T),.,1.470107,5.76,-1.18,0.533000,0.100000,-0.022000,0.998000,0.996000,0.896000,4.8011
missense_variant,RREB1,MISSENSE,NM_001003699.3:p.Gly195Arg/c.583G>A,Ggg/Agg,MODERATE,COSM3762172(1),0.457668,0.5327,rs1334576,0.38(T),"0.859,0.823,0.027(P,P,B)",1.61(L),-1.0175(T),,chr6,7211818,7211818,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly195Arg/c.583G>A|1687|RREB1|protein_coding|CODING|NM_001003698.3|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly195Arg/c.583G>A|1742|RREB1|protein_coding|CODING|NM_001003699.3|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly195Arg/c.583G>A|1476|RREB1|protein_coding|CODING|NM_001003700.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly195Arg/c.583G>A|1687|RREB1|protein_coding|CODING|NM_001168344.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.637,0.4308,0.4076,0.38,0.33,0.40,,0.257488(N),1.000(P),"2.9,2.85,2.9,2.78,2.89(T,T,T,T,T)",0.0186(T),0.123,1.811580,6.06,2.93,0.655000,1.580000,0.911000,0.029000,0.039000,0.133000,1.897
synonymous_variant,RREB1,SILENT,NM_001003699.3:p.His338His/c.1014T>C,caT/caC,LOW,COSM3723434(1),0.408147,0.2718,rs2714315,,,,,,chr6,7229346,7229346,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His338His/c.1014T>C|1687|RREB1|protein_coding|CODING|NM_001003698.3|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His338His/c.1014T>C|1742|RREB1|protein_coding|CODING|NM_001003699.3|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His338His/c.1014T>C|1476|RREB1|protein_coding|CODING|NM_001003700.1|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His338His/c.1014T>C|1687|RREB1|protein_coding|CODING|NM_001168344.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2352,0.2147,0.3419,0.44,0.69,0.31,,,,,,,,,,,,,,,,
synonymous_variant,RREB1,SILENT,NM_001003699.3:p.Ala429Ala/c.1287G>A,gcG/gcA,LOW,COSM3762174(1),0.203474,0.0417,rs12192672,,,,,,chr6,7229619,7229619,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala429Ala/c.1287G>A|1687|RREB1|protein_coding|CODING|NM_001003698.3|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala429Ala/c.1287G>A|1742|RREB1|protein_coding|CODING|NM_001003699.3|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala429Ala/c.1287G>A|1476|RREB1|protein_coding|CODING|NM_001003700.1|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala429Ala/c.1287G>A|1687|RREB1|protein_coding|CODING|NM_001168344.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.1715,0.3082,0.29,0.32,0.28,,,,,,,,,,,,,,,,
synonymous_variant,RREB1,SILENT,NM_001003699.3:p.Pro1063Pro/c.3189C>T,ccC/ccT,LOW,,0.00299521,0,rs148116530,,,,,,chr6,7231521,7231521,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1063Pro/c.3189C>T|1687|RREB1|protein_coding|CODING|NM_001003698.3|10|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1063Pro/c.3189C>T|1742|RREB1|protein_coding|CODING|NM_001003699.3|10|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1063Pro/c.3189C>T|1476|RREB1|protein_coding|CODING|NM_001003700.1|10|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1063Pro/c.3189C>T|1687|RREB1|protein_coding|CODING|NM_001168344.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0123,0,0.003,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,RREB1,SILENT,NM_001003699.3:p.Pro1146Pro/c.3438A>G,ccA/ccG,LOW,,0.113419,0.2371,rs34561875,,,,,,chr6,7231770,7231770,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1146Pro/c.3438A>G|1687|RREB1|protein_coding|CODING|NM_001003698.3|10|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1146Pro/c.3438A>G|1742|RREB1|protein_coding|CODING|NM_001003699.3|10|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1146Pro/c.3438A>G|1476|RREB1|protein_coding|CODING|NM_001003700.1|10|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1146Pro/c.3438A>G|1687|RREB1|protein_coding|CODING|NM_001168344.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0695,0.1354,0.0706,0.06,0.06,0.06,,,,,,,,,,,,,,,,
missense_variant,RREB1,MISSENSE,NM_001003699.3:p.Leu1522Pro/c.4565T>C,cTc/cCc,MODERATE,,0.782149,0.7937,rs2256596,0.29(T),"0.0,0.0(B,B)",-0.345(N),-0.9181(T),,chr6,7247248,7247248,T,C,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1467Pro/c.4400T>C|1687|RREB1|protein_coding|CODING|NM_001003698.3|11|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1522Pro/c.4565T>C|1742|RREB1|protein_coding|CODING|NM_001003699.3|12|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1467Pro/c.4400T>C|1687|RREB1|protein_coding|CODING|NM_001168344.1|11|1),intron_variant(MODIFIER|||c.3974-1496T>C|1476|RREB1|protein_coding|CODING|NM_001003700.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7781,0.6254,0.6561,0.73,0.89,0.65,,0.639003(N),0.061(P),"2.88,2.84,2.88(T,T,T)",0.0049(T),0.012,-0.457398,5.42,1.64,-1.329000,-0.208000,1.820000,0.001000,0.008000,0.950000,9.5094
missense_variant,RREB1,MISSENSE,NM_001003699.3:p.Ser1554Tyr/c.4661C>A,tCc/tAc,MODERATE,COSM150040(2),0.127396,0.0357,rs35742417,0.15(T),"0.123,0.26(B,B)",1.245(L),-0.9322(T),,chr6,7247344,7247344,C,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser1499Tyr/c.4496C>A|1687|RREB1|protein_coding|CODING|NM_001003698.3|11|1),missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser1554Tyr/c.4661C>A|1742|RREB1|protein_coding|CODING|NM_001003699.3|12|1),missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser1499Tyr/c.4496C>A|1687|RREB1|protein_coding|CODING|NM_001168344.1|11|1),intron_variant(MODIFIER|||c.3974-1400C>A|1476|RREB1|protein_coding|CODING|NM_001003700.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0624,0.0908,0.161,0.18,0.20,0.16,,0.561966(N),0.998(P),"3.12,3.12,3.12(T,T,T)",0.0082(T),0.044,1.731099,5.24,3.42,-0.254000,1.215000,2.107000,0.943000,0.963000,0.999000,4.3196
missense_variant,SSR1,MISSENSE,NM_003144.4:p.Leu28Ser/c.83T>C,tTg/tCg,MODERATE,COSM323621(2),0.294329,0.2609,rs10004,0.43(T),"0.001,0.0,0.001(B,B,B)",0.625(N),-1.0371(T),,chr6,7310259,7310259,A,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu28Ser/c.83T>C|218|SSR1|protein_coding|CODING|NM_001292008.1|2|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu28Ser/c.83T>C|286|SSR1|protein_coding|CODING|NM_003144.4|2|1),non_coding_exon_variant(MODIFIER|||n.277T>C||SSR1||CODING|NR_120448.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.181,0.1542,0.2455,0.33,0.45,0.26,,0.076926(N),1.000(P),"0.93,0.93,0.93,0.93,0.93,0.93,0.93(T,T,T,T,T,T,T)",0.0251(T),0.11,0.867893,3.91,3.04,-0.748000,0.625000,3.670000,0.602000,0.028000,0.995000,7.6038
synonymous_variant,RIOK1,SILENT,NM_031480.2:p.Asp64Asp/c.192C>T,gaC/gaT,LOW,,0.460663,0.4554,rs2274212,,,,,,chr6,7393452,7393452,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp64Asp/c.192C>T|568|RIOK1|protein_coding|CODING|NM_031480.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6217,0.4798,0.5586,0.47,0.30,0.56,,,,,,,,,,,,,,,,
synonymous_variant,DSP,SILENT,NM_004415.2:p.Ala247Ala/c.741T>G,gcT/gcG,LOW,,1,1,rs2806234,,,,,,chr6,7563983,7563983,T,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala247Ala/c.741T>G|2272|DSP|protein_coding|CODING|NM_001008844.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala247Ala/c.741T>G|2871|DSP|protein_coding|CODING|NM_004415.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,"RCV000038087.1|RCV000124814.1,RCV000038088.1",,1,1,1,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,DSP,SILENT,NM_004415.2:p.Gly697Gly/c.2091A>G,ggA/ggG,LOW,,0.774361,0.8026,rs2076304,,,,,,chr6,7572262,7572262,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly697Gly/c.2091A>G|2272|DSP|protein_coding|CODING|NM_001008844.1|15|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly697Gly/c.2091A>G|2871|DSP|protein_coding|CODING|NM_004415.2|15|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000038004.1,,0.6748,0.7925,0.7664,0.79,0.80,0.78,,,,,,,,,,,,,,,,
synonymous_variant,DSP,SILENT,NM_004415.2:p.Thr2374Thr/c.7122C>T,acC/acT,LOW,COSM150043(2),0.211661,0.0744,rs2076300,,,,,,chr6,7584617,7584617,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1775Thr/c.5325C>T|2272|DSP|protein_coding|CODING|NM_001008844.1|24|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr2374Thr/c.7122C>T|2871|DSP|protein_coding|CODING|NM_004415.2|24|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000038083.1,,0.2597,0.2421,0.3797,0.30,0.17,0.37,,,,,,,,,,,,,,,,
synonymous_variant,DSP,SILENT,NM_004415.2:p.Gly2824Gly/c.8472G>C,ggG/ggC,LOW,,0.709465,0.8046,rs2744380,,,,,,chr6,7585967,7585967,G,C,hom,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly2225Gly/c.6675G>C|2272|DSP|protein_coding|CODING|NM_001008844.1|24|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly2824Gly/c.8472G>C|2871|DSP|protein_coding|CODING|NM_004415.2|24|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1",,RCV000038104.1,,0.7219,0.7478,0.7127,0.69,0.63,0.72,,,,,,,,,,,,,,,,
missense_variant,SNRNP48,MISSENSE,NM_152551.3:p.Pro45Leu/c.134C>T,cCc/cTc,MODERATE,,0.213658,0.0744,rs2757594,0.23(T),0.002(B),0.55(N),-1.0156(T),,chr6,7590624,7590624,C,T,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro45Leu/c.134C>T|339|SNRNP48|protein_coding|CODING|NM_152551.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,GM12878:USF1,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.2607,0.2435,0.3817,0.29,0.16,0.36,,0.101950(N),0.083(P),1.54(T),0.0163(T),0.08,2.985607,5.16,2.33,0.563000,0.545000,0.390000,0.993000,0.748000,0.012000,5.8231
synonymous_variant,BMP6,SILENT,NM_001718.4:p.Val368Val/c.1104G>C,gtG/gtC,LOW,,0.597644,0.7411,rs17557,,,,,,chr6,7862631,7862631,G,C,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val368Val/c.1104G>C|513|BMP6|protein_coding|CODING|NM_001718.4|4|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.4499,0.6095,0.3917,0.48,0.69,0.37,,,,,,,,,,,,,,,,
synonymous_variant,SLC35B3,SILENT,NM_001142541.2:p.Leu366Leu/c.1098T>C,ctT/ctC,LOW,COSM3762201(1),0.357827,0.125,rs3757099,,,,,,chr6,8413890,8413890,A,G,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu366Leu/c.1098T>C|401|SLC35B3|protein_coding|CODING|NM_001142541.2|11|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu366Leu/c.1098T>C|401|SLC35B3|protein_coding|CODING|NM_015948.4|11|1),non_coding_exon_variant(MODIFIER|||n.1623T>C||SLC35B3||CODING|NR_109913.1|12|1),non_coding_exon_variant(MODIFIER|||n.1566T>C||SLC35B3||CODING|NR_109914.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.2421,0.2296,0.38,0.66,0.24,,,,,,,,,,,,,,,,
synonymous_variant,TFAP2A,SILENT,NM_003220.2:p.Asn419Asn/c.1257C>T,aaC/aaT,LOW,COSM3761404(1),0.0888578,0.0308,rs3734391,,,,,,chr6,10398707,10398707,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn413Asn/c.1239C>T|431|TFAP2A|protein_coding|CODING|NM_001032280.2|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn415Asn/c.1245C>T|433|TFAP2A|protein_coding|CODING|NM_001042425.1|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn419Asn/c.1257C>T|437|TFAP2A|protein_coding|CODING|NM_003220.2|7|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HeLa-S3:H3K36me3,HMEC:DNase1,HepG2:H3K27me3",,,,0.0859,0.0951,0.1521,0.12,0.09,0.14,,,,,,,,,,,,,,,,
missense_variant,GCNT2,MISSENSE,NM_145655.3:p.Asp272Glu/c.816C>G,gaC/gaG,MODERATE,,0.983027,0.9187,rs539351,1(T),0.001(B),-0.85(N),-0.9116(T),,chr6,10587038,10587038,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp272Glu/c.816C>G|402|GCNT2|protein_coding|CODING|NM_145655.3|1|1),intron_variant(MODIFIER|||c.926-34546C>G|402|GCNT2|protein_coding|CODING|NM_145649.4|3|1),intron_variant(MODIFIER|||c.919+29463C>G|400|GCNT2|protein_coding|CODING|NM_001491.2|1|1)","H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.9969,1,1,1.00,1.00,1.00,,,0.000(P),2.89(T),0.0031(T),0.027,-0.560708,5.58,2.56,-0.120000,0.272000,-0.623000,0.799000,1.000000,0.001000,13.1403
synonymous_variant,MAK,SILENT,NM_001242957.1:p.His635His/c.1905T>C,caT/caC,LOW,,0.865615,0.9167,rs126405,,,,,,chr6,10764727,10764727,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His570His/c.1710T>C|583|MAK|protein_coding|CODING|NM_001242385.1|13|1),synonymous_variant(LOW|SILENT|caT/caC|p.His635His/c.1905T>C|648|MAK|protein_coding|CODING|NM_001242957.1|15|1),synonymous_variant(LOW|SILENT|caT/caC|p.His610His/c.1830T>C|623|MAK|protein_coding|CODING|NM_005906.4|14|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.8037,0.7911,0.7952,0.82,0.93,0.77,,,,,,,,,,,,,,,,
synonymous_variant,SYCP2L,SILENT,NM_001040274.2:p.Asp15Asp/c.45C>T,gaC/gaT,LOW,,0.98762,1,rs1538441,,,,,,chr6,10891781,10891781,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp15Asp/c.45C>T|812|SYCP2L|protein_coding|CODING|NM_001040274.2|2|1),"HUVEC:H3K27me3,K562:H3K36me3,HepG2:H3K27me3",,,,1,0.9942,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,SYCP2L,MISSENSE,NM_001040274.2:p.Val94Ile/c.280G>A,Gta/Ata,MODERATE,,0.127796,0.1438,rs6456746,0.35(T),0.0(B),-1.795(N),-0.9377(T),,chr6,10894381,10894381,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val94Ile/c.280G>A|812|SYCP2L|protein_coding|CODING|NM_001040274.2|4|1),"K562:H3K36me3,HepG2:H3K27me3",,,,0.0061,0.0476,0.0696,0.12,0.25,0.07,,0.976918(N),0.974(P),2.37(T),0.0030(T),0.005,-1.414607,5.53,1.38,-0.361000,-0.179000,1.401000,0.288000,0.002000,0.359000,2.3819
missense_variant,SYCP2L,MISSENSE,NM_001040274.2:p.Pro672Ser/c.2014C>T,Ccg/Tcg,MODERATE,COSM150048(1),0.883387,0.8036,rs1225746,0.14(T),0.948(D),2.175(M),-1.0502(T),,chr6,10955408,10955408,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro672Ser/c.2014C>T|812|SYCP2L|protein_coding|CODING|NM_001040274.2|24|1),"HUVEC:H3K27me3,H1ESC:H3K27me3",,,,0.9673,0.9424,0.9751,0.94,0.82,0.99,,0.082967(N),0.000(P),1.9(T),0.1059(T),0.064,1.933578,5.23,5.23,0.650000,2.729000,1.059000,0.047000,0.013000,0.002000,14.2339
synonymous_variant,ELOVL2,SILENT,NM_017770.3:p.Tyr253Tyr/c.759C>T,taC/taT,LOW,COSM3761418(1),0.0543131,0.002,rs12195587,,,,,,chr6,10989942,10989942,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr253Tyr/c.759C>T|296|ELOVL2|protein_coding|CODING|NM_017770.3|7|1),HepG2:H3K36me3,,,,0.0706,0.0778,0.1372,0.13,0.03,0.17,,,,,,,,,,,,,,,,
synonymous_variant,ELOVL2,SILENT,NM_017770.3:p.Asn58Asn/c.174C>T,aaC/aaT,LOW,COSM150049(3),0.231629,0.2738,rs2295601,,,,,,chr6,11005686,11005686,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn58Asn/c.174C>T|296|ELOVL2|protein_coding|CODING|NM_017770.3|3|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2352,0.2752,0.2326,0.20,0.16,0.23,,,,,,,,,,,,,,,,
synonymous_variant,NEDD9,SILENT,NM_001142393.1:p.Thr789Thr/c.2367C>T,acC/acT,LOW,COSM150051(2),0.492013,0.3492,rs1050775,,,,,,chr6,11185533,11185533,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr789Thr/c.2367C>T|834|NEDD9|protein_coding|CODING|NM_001142393.1|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr640Thr/c.1920C>T|685|NEDD9|protein_coding|CODING|NM_001271033.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr789Thr/c.2367C>T|834|NEDD9|protein_coding|CODING|NM_006403.3|7|1),non_coding_exon_variant(MODIFIER|||n.2974C>T||NEDD9||CODING|NR_073131.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,K562:Yy1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4233,0.4236,0.5477,0.57,0.63,0.53,,,,,,,,,,,,,,,,
synonymous_variant,NEDD9,SILENT,NM_001142393.1:p.Val492Val/c.1476T>C,gtT/gtC,LOW,,0.942692,0.998,rs941982,,,,,,chr6,11190626,11190626,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val492Val/c.1476T>C|834|NEDD9|protein_coding|CODING|NM_001142393.1|6|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val343Val/c.1029T>C|685|NEDD9|protein_coding|CODING|NM_001271033.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val492Val/c.1476T>C|834|NEDD9|protein_coding|CODING|NM_006403.3|5|1),non_coding_exon_variant(MODIFIER|||n.2083T>C||NEDD9||CODING|NR_073131.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9703,0.9179,0.8648,0.88,0.92,0.86,,,,,,,,,,,,,,,,
synonymous_variant,NEDD9,SILENT,NM_001142393.1:p.Asp175Asp/c.525C>T,gaC/gaT,LOW,COSM3761435(1),0.197085,0.256,rs16871074,,,,,,chr6,11193860,11193860,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp175Asp/c.525C>T|834|NEDD9|protein_coding|CODING|NM_001142393.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp26Asp/c.78C>T|685|NEDD9|protein_coding|CODING|NM_001271033.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp175Asp/c.525C>T|834|NEDD9|protein_coding|CODING|NM_006403.3|3|1),non_coding_exon_variant(MODIFIER|||n.1132C>T||NEDD9||CODING|NR_073131.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2004,0.2104,0.1879,0.18,0.14,0.19,,,,,,,,,,,,,,,,
synonymous_variant,NEDD9,SILENT,NM_001142393.1:p.Ser47Ser/c.141A>G,tcA/tcG,LOW,COSM3761437(2),0.439896,0.4097,rs3734404,,,,,,chr6,11213832,11213832,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser47Ser/c.141A>G|834|NEDD9|protein_coding|CODING|NM_001142393.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser47Ser/c.141A>G|834|NEDD9|protein_coding|CODING|NM_006403.3|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser47Ser/c.141A>G|174|NEDD9|protein_coding|CODING|NM_182966.3|2|1),intron_variant(MODIFIER|||c.12+18905A>G|685|NEDD9|protein_coding|CODING|NM_001271033.1|1|1),non_coding_exon_variant(MODIFIER|||n.597A>G||NEDD9||CODING|NR_073131.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HUVEC:H3K9ac,HepG2:H4K20me1,HSMM:H3K36me3,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HUVEC:H3K4me1,HepG2:H3K79me2,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.3119,0.3775,0.4324,0.46,0.56,0.41,,,,,,,,,,,,,,,,
missense_variant,HIVEP1,MISSENSE,NM_002114.3:p.Thr873Ala/c.2617A>G,Act/Gct,MODERATE,,1,1,rs6900196,,0.0(B),0(N),-0.9213(T),,chr6,12122645,12122645,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr873Ala/c.2617A>G|2718|HIVEP1|protein_coding|CODING|NM_002114.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.505063(N),0.000(P),2.83(T),0.0034(T),0.019,-0.734577,6.02,-7.96,-0.733000,-1.766000,0.931000,0.241000,0.002000,0.449000,8.4883
synonymous_variant,HIVEP1,SILENT,NM_002114.3:p.Gln1007Gln/c.3021G>A,caG/caA,LOW,,0.0499201,0.0248,rs2228219,,,,,,chr6,12123049,12123049,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1007Gln/c.3021G>A|2718|HIVEP1|protein_coding|CODING|NM_002114.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0378,0.049,0.0408,0.05,0.07,0.04,,,,,,,,,,,,,,,,
missense_variant,HIVEP1,MISSENSE,NM_002114.3:p.Asn1074Ser/c.3221A>G,aAt/aGt,MODERATE,COSM4003670(1),0.147165,0.13,rs2228220,,0.005(B),0.51(N),-0.9763(T),,chr6,12123249,12123249,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn1074Ser/c.3221A>G|2718|HIVEP1|protein_coding|CODING|NM_002114.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1861,0.1009,0.1163,0.11,0.15,0.09,,0.636543(N),1.000(P),1.66(T),0.0147(T),0.005,-1.696664,5.87,-0.523,0.533000,-0.314000,-0.027000,0.575000,0.000000,0.000000,4.9242
missense_variant,HIVEP1,MISSENSE,NM_002114.3:p.Lys1170Asn/c.3510G>T,aaG/aaT,MODERATE,COSM4160164(1),0.0499201,0.0248,rs34258344,,0.293(B),2.125(M),-1.0986(T),,chr6,12123538,12123538,G,T,het,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys1170Asn/c.3510G>T|2718|HIVEP1|protein_coding|CODING|NM_002114.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0378,0.049,0.0408,0.05,0.07,0.04,,0.212431(N),1.000(P),1.55(T),0.0367(T),0.074,-0.692986,5.72,2.02,-0.136000,0.089000,0.613000,0.026000,0.001000,0.334000,9.5099
missense_variant,HIVEP1,MISSENSE,NM_002114.3:p.Ala1520Gly/c.4559C>G,gCa/gGa,MODERATE,COSM3761469(2),0.248003,0.1796,rs2228212,,0.016(B),0.69(N),-0.9360(T),,chr6,12124587,12124587,C,G,het,missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala1520Gly/c.4559C>G|2718|HIVEP1|protein_coding|CODING|NM_002114.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2403,0.3141,0.3439,0.31,0.21,0.35,,0.057348(N),1.000(P),3.03(T),0.0050(T),0.04,0.764953,5.93,-3.84,-0.218000,-0.373000,-0.720000,0.006000,0.000000,0.000000,7.1783
missense_variant,HIVEP1,MISSENSE,NM_002114.3:p.Gln1915Arg/c.5744A>G,cAg/cGg,MODERATE,COSM4003671(1),0.170128,0.131,rs1126472,,0.01(B),0(N),-0.9066(T),,chr6,12125772,12125772,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1915Arg/c.5744A>G|2718|HIVEP1|protein_coding|CODING|NM_002114.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1871,0.1282,0.1362,0.13,0.21,0.10,,,1.000(P),3.05(T),0.0024(T),0.013,-2.198926,4.39,-6.62,-2.706000,-1.569000,-3.171000,0.006000,0.000000,0.000000,1.2719
missense_variant,HIVEP1,MISSENSE,NM_002114.3:p.Ala2692Gly/c.8075C>G,gCa/gGa,MODERATE,,0.0283546,0.0248,rs1042054,0.53(T),0.0(B),0.895(L),-0.9364(T),,chr6,12164612,12164612,C,G,het,missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala2692Gly/c.8075C>G|2718|HIVEP1|protein_coding|CODING|NM_002114.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0368,0.0418,0.0408,0.03,0.01,0.04,,0.320230(N),1.000(N),"3.0,1.5(T,T)",0.0136(T),0.037,0.041377,4.86,-0.348,-1.094000,-0.781000,0.027000,0.003000,0.000000,0.025000,4.5715
synonymous_variant,EDN1,SILENT,NM_001955.4:p.Glu106Glu/c.318A>G,gaA/gaG,LOW,,0.901358,0.9772,rs5369,,,,,,chr6,12294258,12294258,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu105Glu/c.315A>G|211|EDN1|protein_coding|CODING|NM_001168319.1|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu106Glu/c.318A>G|212|EDN1|protein_coding|CODING|NM_001955.4|3|1)","HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.9438,0.8963,0.8807,0.87,0.86,0.88,,,,,,,,,,,,,,,,
missense_variant,PHACTR1,MISSENSE,NM_001242648.1:p.Gly290Ser/c.868G>A,Ggc/Agc,MODERATE,,,,,0.73(T),"0.996,0.016,0.036(D,B,B)",0.805(L),-1.1007(T),,chr6,13206250,13206250,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly290Ser/c.868G>A|580|PHACTR1|protein_coding|CODING|NM_001242648.1|8|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly290Ser/c.868G>A|580|PHACTR1|protein_coding|CODING|NM_030948.2|8|1)","GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.017182(N),1.000(D),"1.45,1.5,1.49(T,T,T)",0.0558(T),0.306,3.983183,5.12,4.25,0.561000,1.385000,4.793000,0.951000,0.993000,0.999000,12.7871
missense_variant,LOC100130357,MISSENSE,NM_001242698.1:p.Leu10Arg/c.29T>G,cTg/cGg,MODERATE,,0.839457,0.6657,rs1550526,,,,,,chr6,13295515,13295515,A,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu10Arg/c.29T>G|153|LOC100130357|protein_coding|CODING|NM_001242698.1|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8354,0.8862,0.8787,,,,,,,,,,,,,,,,,,,
missense_variant,LOC100130357,MISSENSE,NM_001242698.1:p.Arg3Lys/c.8G>A,aGg/aAg,MODERATE,,0.844249,0.6647,rs454563,,,,,,chr6,13295536,13295536,C,T,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg3Lys/c.8G>A|153|LOC100130357|protein_coding|CODING|NM_001242698.1|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8344,0.8876,0.8777,,,,,,,,,,,,,,,,,,,
missense_variant,MCUR1,MISSENSE,NM_001031713.3:p.Thr216Ala/c.646A>G,Act/Gct,MODERATE,COSM150055(4),0.1248,0.3026,rs3180196,0.75(T),0.055(B),0.145(N),-1.0220(T),,chr6,13801615,13801615,T,C,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr216Ala/c.646A>G|359|MCUR1|protein_coding|CODING|NM_001031713.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0726,0.0879,0.1779,0.11,0.03,0.15,,0.006529(N),0.000(P),1.02(T),0.0175(T),0.026,1.771192,5.18,3.97,0.533000,0.874000,2.978000,0.988000,1.000000,1.000000,8.5551
missense_variant,MCUR1,MISSENSE,NM_001031713.3:p.Ser108Gly/c.322A>G,Agc/Ggc,MODERATE,COSM4160224(1),0.684105,0.7282,rs1204145,1(T),0.0(B),-0.695(N),-0.9492(T),,chr6,13814340,13814340,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser108Gly/c.322A>G|359|MCUR1|protein_coding|CODING|NM_001031713.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.6861,0.6772,0.6064,,,,,0.918597(N),1.000(P),"1.58,1.69(T,T)",0.0062(T),0.051,-0.595401,2.22,1.3,-0.642000,-0.100000,-0.672000,0.120000,0.015000,0.002000,2.9254
synonymous_variant,RNF182,SILENT,NM_001165032.1:p.Ala116Ala/c.348C>T,gcC/gcT,LOW,,0.0179712,0,rs35050766,,,,,,chr6,13977698,13977698,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala116Ala/c.348C>T|247|RNF182|protein_coding|CODING|NM_001165032.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala116Ala/c.348C>T|247|RNF182|protein_coding|CODING|NM_001165033.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala116Ala/c.348C>T|247|RNF182|protein_coding|CODING|NM_001165034.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala116Ala/c.348C>T|247|RNF182|protein_coding|CODING|NM_152737.3|3|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0327,0.0159,0.0437,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CD83,SILENT,NM_004233.3:p.Arg69Arg/c.207G>A,agG/agA,LOW,,0.130591,0.1766,rs7743206,,,,,,chr6,14131804,14131804,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg69Arg/c.207G>A|204|CD83|protein_coding|CODING|NM_001040280.1|3|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg10Arg/c.30G>A|146|CD83|protein_coding|CODING|NM_001251901.1|3|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg69Arg/c.207G>A|205|CD83|protein_coding|CODING|NM_004233.3|3|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.091,0.0908,0.1302,0.14,0.14,0.14,,,,,,,,,,,,,,,,
synonymous_variant,JARID2,SILENT,NM_004973.3:p.Pro402Pro/c.1206C>T,ccC/ccT,LOW,COSM3761611(1),0.1877,0.3056,rs742099,,,,,,chr6,15496662,15496662,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro230Pro/c.690C>T|1074|JARID2|protein_coding|CODING|NM_001267040.1|7|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro402Pro/c.1206C>T|1246|JARID2|protein_coding|CODING|NM_004973.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1595,0.2147,0.2515,0.20,0.09,0.25,,,,,,,,,,,,,,,,
synonymous_variant,JARID2,SILENT,NM_004973.3:p.Leu1093Leu/c.3279G>A,ctG/ctA,LOW,COSM450779(3),0.584864,0.6667,rs2235258,,,,,,chr6,15513482,15513482,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu921Leu/c.2763G>A|1074|JARID2|protein_coding|CODING|NM_001267040.1|16|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1093Leu/c.3279G>A|1246|JARID2|protein_coding|CODING|NM_004973.3|16|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6718,0.6513,0.7465,0.64,0.38,0.77,,,,,,,,,,,,,,,,
missense_variant,MYLIP,MISSENSE,NM_013262.3:p.Asn342Ser/c.1025A>G,aAc/aGc,MODERATE,,0.769968,0.9435,rs9370867,1(T),0.0(B),0(N),-1.0701(T),,chr6,16145325,16145325,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn342Ser/c.1025A>G|445|MYLIP|protein_coding|CODING|NM_013262.3|6|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6728,0.6945,0.4861,0.62,0.89,0.48,,0.029102(N),1.000(P),"-1.55,1.16(D,T)",0.1069(T),0.001,-1.312768,5.65,3.85,-0.119000,0.415000,1.572000,0.446000,0.000000,0.018000,9.9368
missense_variant,GMPR,MISSENSE,NM_006877.3:p.Phe256Ile/c.766T>A,Ttt/Att,MODERATE,COSM3761637(1),0.70627,0.874,rs1042391,1(T),0.0(B),-1.83(N),-1.0668(T),,chr6,16290761,16290761,T,A,het,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe256Ile/c.766T>A|345|GMPR|protein_coding|CODING|NM_006877.3|8|1),"HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000017331.1,,0.7157,0.5576,0.3986,0.54,0.82,0.39,,0.000003(N),1.000(P),-1.05(T),0.0400(T),0.152,-0.274157,5.22,5.22,-0.257000,0.810000,4.307000,0.227000,1.000000,1.000000,11.563
synonymous_variant,ATXN1,SILENT,NM_000332.3:p.Glu404Glu/c.1212A>G,gaA/gaG,LOW,,0.369209,0.4772,rs2075974,,,,,,chr6,16327330,16327330,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu404Glu/c.1212A>G|815|ATXN1|protein_coding|CODING|NM_000332.3|8|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu404Glu/c.1212A>G|815|ATXN1|protein_coding|CODING|NM_001128164.1|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116468.2,,0.4131,0.2075,0.2147,0.28,0.43,0.20,,,,,,,,,,,,,,,,
synonymous_variant,ATXN1,SILENT,NM_000332.3:p.Ala309Ala/c.927T>C,gcT/gcC,LOW,COSM3761638(2),0.780152,0.8552,rs179990,,,,,,chr6,16327615,16327615,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala309Ala/c.927T>C|815|ATXN1|protein_coding|CODING|NM_000332.3|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala309Ala/c.927T>C|815|ATXN1|protein_coding|CODING|NM_001128164.1|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116475.2,,0.7904,0.7954,0.661,0.71,0.79,0.67,,,,,,,,,,,,,,,,
synonymous_variant,CAP2,SILENT,NM_006366.2:p.Lys379Lys/c.1137A>G,aaA/aaG,LOW,COSM4003802(1),0.626398,0.7331,rs9256,,,,,,chr6,17543302,17543302,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys379Lys/c.1137A>G|477|CAP2|protein_coding|CODING|NM_006366.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5665,0.5605,0.6272,0.65,0.65,0.64,,,,,,,,,,,,,,,,
synonymous_variant,NUP153,SILENT,NM_001278209.1:p.Ser969Ser/c.2907C>T,tcC/tcT,LOW,,0.891973,0.7143,rs942467,,,,,,chr6,17629616,17629616,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser969Ser/c.2907C>T|1506|NUP153|protein_coding|CODING|NM_001278209.1|19|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser896Ser/c.2688C>T|1433|NUP153|protein_coding|CODING|NM_001278210.1|17|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser938Ser/c.2814C>T|1475|NUP153|protein_coding|CODING|NM_005124.3|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9438,0.987,0.993,0.95,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KIF13A,SILENT,NM_022113.5:p.Glu1743Glu/c.5229G>A,gaG/gaA,LOW,,0.302915,0.5347,rs9371018,,,,,,chr6,17764530,17764530,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1708Glu/c.5124G>A|1770|KIF13A|protein_coding|CODING|NM_001105566.2|38|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1695Glu/c.5085G>A|1757|KIF13A|protein_coding|CODING|NM_001105567.2|37|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1743Glu/c.5229G>A|1805|KIF13A|protein_coding|CODING|NM_022113.5|39|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1695Glu/c.5085G>A|1749|KIF13A|protein_coding|CODING|NM_001105568.2|37|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3108,0.3343,0.3072,0.25,0.12,0.31,,,,,,,,,,,,,,,,
synonymous_variant,KIF13A,SILENT,NM_022113.5:p.Leu1070Leu/c.3208C>T,Ctg/Ttg,LOW,COSM3761718(1),0.375,0.5823,rs3734234,,,,,,chr6,17794494,17794494,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1070Leu/c.3208C>T|1770|KIF13A|protein_coding|CODING|NM_001105566.2|25|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1070Leu/c.3208C>T|1757|KIF13A|protein_coding|CODING|NM_001105567.2|25|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1070Leu/c.3208C>T|1749|KIF13A|protein_coding|CODING|NM_001105568.2|25|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1070Leu/c.3208C>T|1805|KIF13A|protein_coding|CODING|NM_022113.5|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3804,0.4207,0.4314,0.36,0.18,0.44,,,,,,,,,,,,,,,,
missense_variant,NHLRC1,MISSENSE,NM_198586.2:p.Pro111Leu/c.332C>T,cCc/cTc,MODERATE,COSM3749962(6),0.342851,0.3869,rs10949483,0.19(T),0.04(B),1.87(L),0.4995(D),,chr6,18122506,18122506,G,A,hom,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro111Leu/c.332C>T|395|NHLRC1|protein_coding|CODING|NM_198586.2|1|1),"HSMM:H2AZ,HUVEC:H3K4me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,RCV000117782.1|RCV000127205.1,,0.3211,0.4914,0.3996,0.34,0.24,0.39,,0.000640(D),0.930(P),-4.18(D),0.7695(D),0.16,2.813953,5.23,5.23,0.655000,2.418000,1.492000,0.753000,0.259000,0.148000,17.5815
synonymous_variant,TPMT,SILENT,NM_000367.3:p.Ile158Ile/c.474C>T,atC/atT,LOW,COSM3761722(1),0.752995,0.7619,rs2842934,,,,,,chr6,18139214,18139214,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile158Ile/c.474C>T|245|TPMT|protein_coding|CODING|NM_000367.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.7767,0.7763,0.79,0.81,0.79,,,,,,,,,,,,,,,,
synonymous_variant,KDM1B,SILENT,NM_153042.3:p.Asp493Asp/c.1479T>C,gaT/gaC,LOW,COSM4160404(1),0.974042,1,rs214585,,,,-1.0882(T),,chr6,18215303,18215303,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp493Asp/c.1479T>C|590|KDM1B|protein_coding|CODING|NM_153042.3|16|1),"GM12878:H3K27ac,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM06990:DNase1",,,,0.9857,0.9582,0.9165,0.96,0.99,0.94,,,0.000(P),,0.0101(T),.,-0.022983,5.99,-12.0,-3.228000,-4.791000,-1.086000,0.448000,0.008000,0.009000,3.798
synonymous_variant,CDKAL1,SILENT,NM_017774.3:p.Ser512Ser/c.1536G>A,tcG/tcA,LOW,COSM4003817(1),0.53155,0.4018,rs9465994,,,,,,chr6,21201493,21201493,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser512Ser/c.1536G>A|579|CDKAL1|protein_coding|CODING|NM_017774.3|15|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3231,0.5937,0.4503,0.56,0.75,0.46,,,,,,,,,,,,,,,,
missense_variant,DCDC2,MISSENSE,NM_001195610.1:p.Ser221Gly/c.661A>G,Agt/Ggt,MODERATE,COSM3761724(1),0.516973,0.7827,rs2274305,0.61(T),0.0(B),-0.09(N),-0.9226(T),,chr6,24291203,24291203,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser221Gly/c.661A>G|476|DCDC2|protein_coding|CODING|NM_001195610.1|6|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser221Gly/c.661A>G|476|DCDC2|protein_coding|CODING|NM_016356.4|5|1)","K562:H3K27me3,HepG2:H3K36me3",,,,0.6074,0.6671,0.668,0.48,0.15,0.65,,0.004848(N),0.000(P),-3.26(D),0.2934(T),0.015,1.731498,5.48,1.8,-0.256000,0.136000,1.221000,0.693000,0.979000,1.000000,9.4015
missense_variant,MRS2,MISSENSE,NM_001286264.1:p.Arg61Cys/c.181C>T,Cgc/Tgc,MODERATE,COSM3948835(1),0.113419,0.1488,rs11695,0.14(T),"0.001,0.002,0.001,0.001(B,B,B,B)",0(N),-1.0127(T),,chr6,24403455,24403455,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg61Cys/c.181C>T|446|MRS2|protein_coding|CODING|NM_001286264.1|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg61Cys/c.181C>T|408|MRS2|protein_coding|CODING|NM_001286265.1|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg61Cys/c.181C>T|393|MRS2|protein_coding|CODING|NM_001286266.1|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg61Cys/c.181C>T|443|MRS2|protein_coding|CODING|NM_020662.3|1|1),non_coding_exon_variant(MODIFIER|||n.320C>T||MRS2||CODING|NR_104423.1|1|1)","NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,GM12878:ZEB1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.1534,0.0965,0.1938,0.10,0.03,0.14,,0.828410(N),1.000(P),"0.76,1.29,1.42,0.84,1.42(T,T,T,T,T)",0.0195(T),0.162,1.559225,4.13,-1.2,0.643000,0.057000,-0.374000,0.007000,0.000000,0.000000,1.1762
missense_variant,MRS2,MISSENSE,NM_001286264.1:p.Arg160Gly/c.478A>G,Aga/Gga,MODERATE,,0.113019,0.1488,rs78721070,0.38(T),0.0(B),,-0.9860(T),,chr6,24411018,24411018,A,G,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg160Gly/c.478A>G|446|MRS2|protein_coding|CODING|NM_001286264.1|5|1),intron_variant(MODIFIER|||c.265-1432A>G|393|MRS2|protein_coding|CODING|NM_001286266.1|2|1),intron_variant(MODIFIER|||c.414+1217A>G|408|MRS2|protein_coding|CODING|NM_001286265.1|4|1),intron_variant(MODIFIER|||c.414+1217A>G|443|MRS2|protein_coding|CODING|NM_020662.3|4|1),intron_variant(MODIFIER|||n.479+1217A>G||MRS2||CODING|NR_104423.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1534,0.0965,0.1928,,,,,,1.000(P),1.5(T),0.0155(T),0.117,-0.010587,1.63,1.63,0.254000,0.999000,0.670000,0.051000,0.015000,0.007000,5.3529
synonymous_variant,MRS2,SILENT,NM_001286264.1:p.Leu366Leu/c.1096T>C,Ttg/Ctg,LOW,COSM150058(1),0.116214,0.1478,rs79527965,,,,,,chr6,24418786,24418786,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu366Leu/c.1096T>C|446|MRS2|protein_coding|CODING|NM_001286264.1|10|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu363Leu/c.1087T>C|408|MRS2|protein_coding|CODING|NM_001286265.1|9|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu313Leu/c.937T>C|393|MRS2|protein_coding|CODING|NM_001286266.1|7|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu363Leu/c.1087T>C|443|MRS2|protein_coding|CODING|NM_020662.3|9|1),non_coding_exon_variant(MODIFIER|||n.1169T>C||MRS2||CODING|NR_104423.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1534,0.0965,0.1938,0.11,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,GPLD1,MISSENSE,NM_001503.3:p.Thr698Ile/c.2093C>T,aCa/aTa,MODERATE,,0.928315,1,rs1772256,0.4(T),0.024(B),2.175(M),-1.0779(T),,chr6,24437445,24437445,G,A,hom,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr698Ile/c.2093C>T|840|GPLD1|protein_coding|CODING|NM_001503.3|21|1),HepG2:H3K36me3,,,,1,0.9784,0.9901,0.91,0.79,0.98,,0.682349(N),1.000(P),-0.67(T),0.1199(T),0.054,2.070442,4.69,0.563,0.563000,-0.020000,0.321000,0.019000,0.000000,0.000000,1.9476
missense_variant,GPLD1,MISSENSE,NM_001503.3:p.Met694Val/c.2080A>G,Atg/Gtg,MODERATE,,0.30611,0.253,rs1042303,0.63(T),0.001(B),0.82(L),-1.0694(T),,chr6,24437458,24437458,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met694Val/c.2080A>G|840|GPLD1|protein_coding|CODING|NM_001503.3|21|1),HepG2:H3K36me3,,,,0.273,0.3386,0.4364,0.40,0.29,0.46,,0.005014(N),0.005(P),-0.15(T),0.0435(T),0.086,-0.060886,4.69,0.898,0.460000,0.068000,0.711000,0.010000,0.141000,0.633000,4.8618
missense_variant,GPLD1,MISSENSE,NM_001503.3:p.Val30Ile/c.88G>A,Gta/Ata,MODERATE,COSM4003823(1),0.26857,0.1667,rs1126617,1(T),"0.002,0.01(B,B)",-0.74(N),-1.0160(T),,chr6,24489652,24489652,C,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val30Ile/c.88G>A|840|GPLD1|protein_coding|CODING|NM_001503.3|1|1),HepG2:H3K36me3,,,,0.2894,0.2089,0.332,0.33,0.31,0.34,,0.187745(N),1.000(P),1.12(T),0.0104(T),0.047,-2.052583,4.89,-6.76,-0.991000,-1.433000,-0.977000,0.007000,0.147000,0.004000,14.647
missense_variant,ALDH5A1,MISSENSE,NM_170740.1:p.His180Tyr/c.538C>T,Cac/Tac,MODERATE,COSM4003827(1),0.314696,0.1667,rs2760118,0.08(T),"0.0,0.0(B,B)",0.55(N),-1.0930(T),,chr6,24503590,24503590,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His180Tyr/c.538C>T|535|ALDH5A1|protein_coding|CODING|NM_001080.3|3|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His180Tyr/c.538C>T|548|ALDH5A1|protein_coding|CODING|NM_170740.1|3|1)","CD4:H3K36me3,HepG2:H3K36me3",,RCV000116307.2,,0.3221,0.219,0.3231,0.37,0.44,0.34,,0.599274(N),1.000(P),"-0.98,-0.98,-0.98,-0.98(T,T,T,T)",0.0799(T),0.029,0.304590,5.22,-0.0441,-0.269000,-0.423000,0.812000,0.241000,0.013000,0.029000,1.8122
missense_variant,KIAA0319,MISSENSE,NM_001168375.1:p.Tyr1013Cys/c.3038A>G,tAt/tGt,MODERATE,COSM4160415(1),0.096845,0.0764,rs807534,0.18(T),"0.939,0.87(D,P)",1.52(L),-1.0665(T),,chr6,24551664,24551664,T,C,hom,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1004Cys/c.3011A>G|1063|KIAA0319|protein_coding|CODING|NM_001168374.1|21|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1013Cys/c.3038A>G|1072|KIAA0319|protein_coding|CODING|NM_001168375.1|20|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr968Cys/c.2903A>G|1027|KIAA0319|protein_coding|CODING|NM_001168376.1|19|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr424Cys/c.1271A>G|483|KIAA0319|protein_coding|CODING|NM_001252328.1|16|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1013Cys/c.3038A>G|1072|KIAA0319|protein_coding|CODING|NM_014809.3|20|1),splice_region_variant(LOW|||c.3011A>G|1063|KIAA0319|protein_coding|CODING|NM_001168374.1|21|1),splice_region_variant(LOW|||c.3038A>G|1072|KIAA0319|protein_coding|CODING|NM_001168375.1|20|1),splice_region_variant(LOW|||c.2903A>G|1027|KIAA0319|protein_coding|CODING|NM_001168376.1|19|1),splice_region_variant(LOW|||c.1271A>G|483|KIAA0319|protein_coding|CODING|NM_001252328.1|16|1),splice_region_variant(LOW|||c.3038A>G|1072|KIAA0319|protein_coding|CODING|NM_014809.3|20|1),intron_variant(MODIFIER|||c.2858-4093A>G|1011|KIAA0319|protein_coding|CODING|NM_001168377.1|18|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.1084,0.0922,0.1272,0.12,0.09,0.13,,0.022150(N),0.000(P),"3.23,3.23,3.23,3.23(T,T,T,T)",0.0209(T),0.394,2.686305,4.56,0.197,0.454000,0.216000,1.674000,0.960000,0.990000,1.000000,10.4006
synonymous_variant,KIAA0319,SILENT,NM_001168375.1:p.Lys991Lys/c.2973A>G,aaA/aaG,LOW,COSM4160416(1),0.0974441,0.0764,rs386615267,,,,,,chr6,24551729,24551729,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys982Lys/c.2946A>G|1063|KIAA0319|protein_coding|CODING|NM_001168374.1|21|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys991Lys/c.2973A>G|1072|KIAA0319|protein_coding|CODING|NM_001168375.1|20|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys946Lys/c.2838A>G|1027|KIAA0319|protein_coding|CODING|NM_001168376.1|19|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys402Lys/c.1206A>G|483|KIAA0319|protein_coding|CODING|NM_001252328.1|16|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys991Lys/c.2973A>G|1072|KIAA0319|protein_coding|CODING|NM_014809.3|20|1),intron_variant(MODIFIER|||c.2858-4158A>G|1011|KIAA0319|protein_coding|CODING|NM_001168377.1|18|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.1094,0.0951,0.1272,0.12,0.09,0.13,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0319,SILENT,NM_001168375.1:p.Ala898Ala/c.2694T>C,gcT/gcC,LOW,COSM4160417(1),0.173522,0.1091,rs807541,,,,,,chr6,24559281,24559281,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala889Ala/c.2667T>C|1063|KIAA0319|protein_coding|CODING|NM_001168374.1|18|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala898Ala/c.2694T>C|1072|KIAA0319|protein_coding|CODING|NM_001168375.1|17|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala853Ala/c.2559T>C|1027|KIAA0319|protein_coding|CODING|NM_001168376.1|16|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala898Ala/c.2694T>C|1011|KIAA0319|protein_coding|CODING|NM_001168377.1|17|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala309Ala/c.927T>C|483|KIAA0319|protein_coding|CODING|NM_001252328.1|13|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala898Ala/c.2694T>C|1072|KIAA0319|protein_coding|CODING|NM_014809.3|17|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2444,0.1686,0.2177,0.20,0.15,0.22,,,,,,,,,,,,,,,,
missense_variant,KIAA0319,MISSENSE,NM_001168375.1:p.Ala311Thr/c.931G>A,Gca/Aca,MODERATE,COSM4003829(1),0.205871,0.1121,rs4504469,0.59(T),"0.001,0.002,0.001(B,B,B)",-1.43(N),-0.9121(T),,chr6,24588884,24588884,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala302Thr/c.904G>A|1063|KIAA0319|protein_coding|CODING|NM_001168374.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala311Thr/c.931G>A|1072|KIAA0319|protein_coding|CODING|NM_001168375.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala266Thr/c.796G>A|1027|KIAA0319|protein_coding|CODING|NM_001168376.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala311Thr/c.931G>A|1011|KIAA0319|protein_coding|CODING|NM_001168377.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala311Thr/c.931G>A|1072|KIAA0319|protein_coding|CODING|NM_014809.3|4|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2945,0.2248,0.4225,0.30,0.10,0.40,,0.946419(N),1.000(P),"3.28,3.28,3.29,3.29,3.29(T,T,T,T,T)",0.0014(T),0.056,-0.143640,4.15,-4.6,-0.483000,-1.160000,-1.525000,0.043000,0.000000,0.000000,7.8238
missense_variant,KIAA0319,MISSENSE,NM_001168375.1:p.Thr142Pro/c.424A>C,Acc/Ccc,MODERATE,COSM1685395(1),0.939896,0.9861,rs4576240,0.32(T),"0.0,0.0,0.0(B,B,B)",-1.04(N),-0.9175(T),,chr6,24596478,24596478,T,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr133Pro/c.397A>C|1063|KIAA0319|protein_coding|CODING|NM_001168374.1|4|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr142Pro/c.424A>C|1072|KIAA0319|protein_coding|CODING|NM_001168375.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr97Pro/c.289A>C|1027|KIAA0319|protein_coding|CODING|NM_001168376.1|2|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr142Pro/c.424A>C|1011|KIAA0319|protein_coding|CODING|NM_001168377.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr142Pro/c.424A>C|1072|KIAA0319|protein_coding|CODING|NM_014809.3|3|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.9325,0.9395,0.9026,0.90,0.92,0.90,,0.035515(N),1.000(P),"3.42,3.41,3.41,3.42,3.42(T,T,T,T,T)",0.0017(T),0.149,-2.399637,4.43,2.45,-1.489000,0.303000,0.597000,0.033000,0.876000,0.786000,2.4144
synonymous_variant,TDP2,SILENT,NM_016614.2:p.Asn214Asn/c.642C>T,aaC/aaT,LOW,COSM4155142(1),0.805112,0.8661,rs1129644,,,,,,chr6,24653376,24653376,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn214Asn/c.642C>T|362|TDP2|protein_coding|CODING|NM_016614.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6953,0.8372,0.662,0.76,0.90,0.70,,,,,,,,,,,,,,,,
synonymous_variant,FAM65B,SILENT,NM_014722.3:p.Ala1000Ala/c.3000T>C,gcT/gcC,LOW,COSM150059(1),0.390176,0.6944,rs9358802,,,,,,chr6,24818785,24818785,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala979Ala/c.2937T>C|1047|FAM65B|protein_coding|CODING|NM_001286445.1|20|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1000Ala/c.3000T>C|1068|FAM65B|protein_coding|CODING|NM_014722.3|21|1)","IMR90:H3K36me3,GM06990:H3K36me3",,,,0.4427,0.4121,0.3002,0.28,0.20,0.31,,,,,,,,,,,,,,,,
synonymous_variant,FAM65B,SILENT,NM_014722.3:p.Ser958Ser/c.2874T>C,agT/agC,LOW,COSM4160423(1),0.753994,0.9633,rs9358804,,,,,,chr6,24825511,24825511,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser937Ser/c.2811T>C|1047|FAM65B|protein_coding|CODING|NM_001286445.1|19|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser958Ser/c.2874T>C|1068|FAM65B|protein_coding|CODING|NM_014722.3|20|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM06990:H3K36me3",,,,0.8088,0.8372,0.829,0.74,0.51,0.84,,,,,,,,,,,,,,,,
missense_variant,FAM65B,MISSENSE,NM_014722.3:p.Arg868Gln/c.2603G>A,cGg/cAg,MODERATE,COSM3774194(2),0.226837,0.1786,rs9461073,0.38(T),"0.007,0.016(B,B)",1.955(M),-0.9666(T),,chr6,24828490,24828490,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg847Gln/c.2540G>A|1047|FAM65B|protein_coding|CODING|NM_001286445.1|18|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg868Gln/c.2603G>A|1068|FAM65B|protein_coding|CODING|NM_014722.3|19|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.1319,0.2161,0.172,0.24,0.35,0.20,,0.003186(N),0.003(P),"-1.1,-1.1(T,T)",0.1850(T),0.086,0.816702,5.92,1.15,-1.945000,-0.061000,2.234000,0.446000,0.050000,0.986000,11.5826
missense_variant,FAM65B,MISSENSE,NM_001286446.1:p.Trp15Arg/c.43T>C,Tgg/Cgg,MODERATE,,0.00339457,0.001,rs148823241,0.66(T),0.997(D),,-1.0637(T),,chr6,25042112,25042112,A,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp15Arg/c.43T>C|647|FAM65B|protein_coding|CODING|NM_001286446.1|1|1),"CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,GM12878:H2AZ",,,,0.001,0.0072,0.0099,,,,,,1.000(D),2.69(T),0.0361(T),0.3,3.475417,5.3,5.3,0.533000,2.216000,4.243000,0.999000,1.000000,1.000000,11.5587
synonymous_variant,LRRC16A,SILENT,NM_017640.5:p.Ala1182Ala/c.3546G>A,gcG/gcA,LOW,COSM1131966(1),0.405351,0.372,rs10456324,,,,,,chr6,25600968,25600968,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1182Ala/c.3546G>A|1365|LRRC16A|protein_coding|CODING|NM_001173977.1|33|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1182Ala/c.3546G>A|1371|LRRC16A|protein_coding|CODING|NM_017640.5|33|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.4591,0.4179,0.4632,0.42,0.34,0.46,,,,,,,,,,,,,,,,
missense_variant,LRRC16A,MISSENSE,NM_017640.5:p.Gly1202Ser/c.3604G>A,Ggc/Agc,MODERATE,COSM4160429(1),0.801318,0.869,rs1012899,0.94(T),0.0(B),-0.41(N),-0.9233(T),,chr6,25605091,25605091,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1202Ser/c.3604G>A|1365|LRRC16A|protein_coding|CODING|NM_001173977.1|34|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1202Ser/c.3604G>A|1371|LRRC16A|protein_coding|CODING|NM_017640.5|34|1)","GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.8323,0.7695,0.7445,0.77,0.80,0.76,,0.193031(N),0.819(P),2.54(T),0.0043(T),0.016,-1.156985,5.54,4.39,-0.381000,0.927000,1.280000,0.046000,0.074000,0.738000,8.4206
synonymous_variant,HIST1H2AA,SILENT,NM_170745.3:p.Gly45Gly/c.135G>A,ggG/ggA,LOW,COSM1685422(1),0.224441,0.1062,rs9467583,,,,,,chr6,25726621,25726621,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly45Gly/c.135G>A|131|HIST1H2AA|protein_coding|CODING|NM_170745.3|1|1),upstream_gene_variant(MODIFIER||516||127|HIST1H2BA|protein_coding|CODING|NM_170610.2||1)","K562:PolII,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,K562:HEY1",,,,0.2076,0.196,0.2505,0.28,0.31,0.26,,,,,,,,,,,,,,,,
synonymous_variant,SLC17A4,SILENT,NM_005495.2:p.Ala76Ala/c.228T>C,gcT/gcC,LOW,,0.877796,0.9851,rs1892251,,,,,,chr6,25769349,25769349,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala22Ala/c.66T>C|443|SLC17A4|protein_coding|CODING|NM_001286121.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala76Ala/c.228T>C|497|SLC17A4|protein_coding|CODING|NM_005495.2|3|1)",NHEK:H3K27me3,,,,0.9714,0.9049,0.9056,0.83,0.72,0.89,,,,,,,,,,,,,,,,
missense_variant,SLC17A4,MISSENSE,NM_005495.2:p.Ala372Thr/c.1114G>A,Gcc/Acc,MODERATE,,0.259984,0.1726,rs11754288,0.36(T),"0.038,0.155,0.023(B,B,B)",0.115(N),-1.0636(T),,chr6,25776949,25776949,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala318Thr/c.952G>A|443|SLC17A4|protein_coding|CODING|NM_001286121.1|10|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala372Thr/c.1114G>A|497|SLC17A4|protein_coding|CODING|NM_005495.2|9|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",Cardiovascular_disease_risk_factors,,,0.4519,0.2781,0.4205,0.33,0.11,0.44,,0.078008(N),1.000(P),"0.31,0.03,0.05(T,T,T)",0.0379(T),0.102,3.615050,5.63,-2.34,0.655000,-0.335000,0.261000,0.998000,0.001000,0.000000,4.0818
missense_variant,SLC17A1,MISSENSE,NM_005074.3:p.Thr269Ile/c.806C>T,aCt/aTt,MODERATE,,0.71905,0.8165,rs1165196,0.53(T),0.002(B),-0.99(N),-1.0235(T),,chr6,25813150,25813150,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr269Ile/c.806C>T|467|SLC17A1|protein_coding|CODING|NM_005074.3|8|1),,"Serum_uric_acid_levels,Urate_levels",,,0.5174,0.7003,0.5646,0.65,0.86,0.55,,0.055446(N),1.000(P),"0.51,0.51(T,T)",0.0208(T),0.036,0.071267,3.67,3.67,-0.254000,0.777000,1.880000,0.022000,0.001000,0.003000,5.9435
synonymous_variant,SLC17A3,SILENT,NM_001098486.1:p.Ser448Ser/c.1344T>C,agT/agC,LOW,,0.703075,0.8105,rs942379,,,,-1.0179(T),,chr6,25849620,25849620,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser448Ser/c.1344T>C|498|SLC17A3|protein_coding|CODING|NM_001098486.1|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser370Ser/c.1110T>C|420|SLC17A3|protein_coding|CODING|NM_006632.3|10|1)",,,,,0.4775,0.6902,0.5388,0.64,0.85,0.53,,,0.015(P),,0.0309(T),.,0.094579,4.55,-0.836,-0.266000,-0.075000,-1.080000,0.014000,0.128000,0.000000,4.0301
missense_variant,SLC17A3,MISSENSE,NM_001098486.1:p.Ala100Thr/c.298G>A,Gca/Aca,MODERATE,COSM3761733(1),0.216454,0.131,rs1165165,0.56(T),"0.132,0.06,0.06,0.064(B,B,B,B)",0.69(N),-1.0494(T),,chr6,25862466,25862466,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala100Thr/c.298G>A|498|SLC17A3|protein_coding|CODING|NM_001098486.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala100Thr/c.298G>A|420|SLC17A3|protein_coding|CODING|NM_006632.3|3|1)",,,,,0.1687,0.1801,0.2276,0.25,0.29,0.23,,0.000023(N),1.000(P),"-0.09,-0.05,-0.05(T,T,T)",0.0550(T),0.091,1.007252,3.57,2.17,0.544000,0.612000,0.224000,0.061000,0.008000,0.002000,4.9209
missense_variant,SLC17A2,MISSENSE,NM_005835.3:p.Ser370Leu/c.1109C>T,tCg/tTg,MODERATE,,0.0826677,0.0149,rs34525648,0.33(T),0.001(B),,-1.1070(T),,chr6,25914853,25914853,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser370Leu/c.1109C>T|398|SLC17A2|protein_coding|CODING|NM_001286125.1|9|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser370Leu/c.1109C>T|436|SLC17A2|protein_coding|CODING|NM_005835.3|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile419Ile/c.1257C>T|478|SLC17A2|protein_coding|CODING|NM_001286123.1|10|1)","HepG2:H3K27ac,HepG2:H3K36me3",,,,0.0327,0.0692,0.0885,0.12,0.18,0.10,,,0.000(P),-0.47(T),0.0658(T),0.015,2.628265,4.5,-0.974,0.650000,-0.175000,-0.542000,0.901000,0.924000,0.092000,3.6505
synonymous_variant,TRIM38,SILENT,NM_006355.4:p.Ala420Ala/c.1260C>T,gcC/gcT,LOW,,0.0321486,0,rs17528178,,,,,,chr6,25983777,25983777,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala420Ala/c.1260C>T|465|TRIM38|protein_coding|CODING|NM_006355.4|8|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0403,0.0646,0.07,0.06,0.07,,,,,,,,,,,,,,,,
missense_variant,HIST1H1A,MISSENSE,NM_005325.3:p.Lys140Arg/c.419A>G,aAa/aGa,MODERATE,,0.0736821,0.0149,rs16891235,0.3(T),0.005(B),0(N),-0.9229(T),,chr6,26017542,26017542,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys140Arg/c.419A>G|215|HIST1H1A|protein_coding|CODING|NM_005325.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,HUVEC:H3K4me3,IMR90:H3K4me2,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0358,0.0706,0.0944,0.11,0.12,0.10,,0.544065(N),0.572(P),1.98(T),0.0087(T),0.079,0.013674,4.31,-1.02,-0.315000,-0.266000,1.692000,0.033000,0.003000,0.933000,8.7383
synonymous_variant,HIST1H2AB,SILENT,NM_003513.2:p.Leu97Leu/c.291C>T,ctC/ctT,LOW,,0.781949,0.8601,rs2230655,,,,,,chr6,26033506,26033506,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu97Leu/c.291C>T|130|HIST1H2AB|protein_coding|CODING|NM_003513.2|1|1),upstream_gene_variant(MODIFIER||1218||136|HIST1H3B|protein_coding|CODING|NM_003537.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:BCLAF1,K562:E2F4",,,,0.637,0.7219,0.672,0.76,0.90,0.69,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H3C,SILENT,NM_003531.2:p.Ala89Ala/c.267G>C,gcG/gcC,LOW,COSM3722045(1),0.0666933,0.0149,rs3752417,,,,,,chr6,26045905,26045905,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala89Ala/c.267G>C|136|HIST1H3C|protein_coding|CODING|NM_003531.2|1|1),"GM12878:Cmyc,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,GM12878:ZBTB33,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,HepG2:p300,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HUVEC:CTCF,CD4:H3K4me3,HMEC:H3K27ac,GM12878:BCLAF1,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,GM06990:H3K4me3,HepG2:HEY1,GM12878:CTCF,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HMEC:CTCF,HUVEC:H3K4me2,HeLa-S3:PolII,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,HepG2:Jund,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,GM06990:CTCF",,,,0.0327,0.0634,0.0835,0.10,0.11,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H3C,SILENT,NM_003531.2:p.Cys97Cys/c.291T>C,tgT/tgC,LOW,COSM4160438(1),0.705272,0.8423,rs3752416,,,,,,chr6,26045929,26045929,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys97Cys/c.291T>C|136|HIST1H3C|protein_coding|CODING|NM_003531.2|1|1),"GM12878:Cmyc,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,GM12878:ZBTB33,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HUVEC:CTCF,CD4:H3K4me3,HMEC:H3K27ac,GM12878:BCLAF1,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,GM06990:H3K4me3,HepG2:HEY1,GM12878:CTCF,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HMEC:CTCF,HUVEC:H3K4me2,HeLa-S3:PolII,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,HepG2:Jund,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,GM06990:CTCF",,,,0.6176,0.6902,0.6531,0.69,0.72,0.67,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H1C,SILENT,NM_005319.3:p.Ser36Ser/c.108T>C,tcT/tcC,LOW,COSM4160439(1),0.760783,0.8552,rs10425,,,,,,chr6,26056549,26056549,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser36Ser/c.108T>C|213|HIST1H1C|protein_coding|CODING|NM_005319.3|1|1),"GM12878:Cmyc,H1ESC:PolII,K562:TAF7,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,GM12878:ZBTB33,HepG2:H3K4me2,HeLa-S3:DNase1,GM12878:Pax5,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:BCL3,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,GM12878:RXRA,IMR90:H3K4me2,H1ESC:SP1,GM12878:MEF2C,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,GM12878:BCLAF1,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,GM12878:Egr1,HUVEC:DNase1,H1ESC:H4K5ac,HepG2:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,K562:GTF2B,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,GM12878:MEF2A,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,GM12878:BCL11A,HeLa-S3:Ini1,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:BCLAF1,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.6258,0.6744,0.6372,0.73,0.88,0.66,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H4C,SILENT,NM_003542.3:p.Leu91Leu/c.273A>G,ctA/ctG,LOW,COSM3761740(1),0.246006,0.1379,rs198852,,,,,,chr6,26104448,26104448,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu91Leu/c.273A>G|103|HIST1H4C|protein_coding|CODING|NM_003542.3|1|1),"GM12878:Cmyc,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:TAF7,NHEK:H3K27ac,CD4:CBP,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,CD4:H3K27ac,GM12878:BCLAF1,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,K562:Gata2,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:TAF7,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,K562:BCLAF1,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,K562:Jund,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.3763,0.3055,0.3708,0.30,0.16,0.37,,,,,,,,,,,,,,,,
missense_variant,HIST1H1T,MISSENSE,NM_005323.3:p.Gln178Lys/c.532C>A,Cag/Aag,MODERATE,,0.244409,0.1319,rs198845,0.92(T),0.162(B),0(N),-0.9917(T),,chr6,26107790,26107790,G,T,het,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln178Lys/c.532C>A|207|HIST1H1T|protein_coding|CODING|NM_005323.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3",,,,0.3753,0.304,0.3708,0.30,0.16,0.37,,0.419810(U),1.000(P),3.81(T),0.0032(T),0.098,0.702736,5.08,4.17,0.655000,2.656000,0.731000,0.046000,0.006000,0.000000,14.8221
missense_variant,HIST1H1T,MISSENSE,NM_005323.3:p.Val14Leu/c.40G>C,Gta/Cta,MODERATE,COSM3761742(1),0.407947,0.2996,rs198844,0.21(T),0.0(B),0(N),-0.9016(T),,chr6,26108282,26108282,C,G,het,missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val14Leu/c.40G>C|207|HIST1H1T|protein_coding|CODING|NM_005323.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3",,,,0.4499,0.4207,0.5258,0.48,0.39,0.53,,0.000595(N),1.000(P),2.77(T),0.0043(T),0.06,0.262709,5.35,-0.586,-0.704000,-0.605000,-1.327000,0.000000,0.000000,0.000000,6.6819
synonymous_variant,HIST1H2AC,SILENT,NM_003512.3:p.Tyr58Tyr/c.174C>T,taC/taT,LOW,COSM4160444(1),0.0802716,0.0139,rs4645,,,,,,chr6,26124634,26124634,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr58Tyr/c.174C>T|130|HIST1H2AC|protein_coding|CODING|NM_003512.3|1|1),upstream_gene_variant(MODIFIER||502||126|HIST1H2BC|protein_coding|CODING|NM_003526.2||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,CD4:CBP,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,CD4:Tip60,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,CD4:p300,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:BCLAF1,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.092,0.1066,0.2127,0.16,0.05,0.22,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H2BF,SILENT,NM_003522.3:p.Ser39Ser/c.117C>T,tcC/tcT,LOW,,0.0175719,0,rs34961555,,,,,,chr6,26199903,26199903,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser39Ser/c.117C>T|126|HIST1H2BF|protein_coding|CODING|NM_003522.3|1|1),upstream_gene_variant(MODIFIER||382||136|HIST1H3D|protein_coding|CODING|NM_003530.4||1),upstream_gene_variant(MODIFIER||382||130|HIST1H2AD|protein_coding|CODING|NM_021065.3||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,K562:TAF7,NHEK:H3K27ac,CD4:CBP,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:POU2F2,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,K562:NELFe,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:FOXA2,HepG2:H3K9ac,CD4:PolII,CD4:Tip60,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:Max,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:BCLAF1,GM12878:Tcf12,CD4:H2BK12ac,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0,0.0259,0.0646,0.06,0.02,0.08,,,,,,,,,,,,,,,,
splice_donor_variant,BTN3A2,protein_coding,NM_001197247.2:c.1G>A,,HIGH,,0.0816693,0.0992,rs71557335,,,,,BTN3A2:0.60(5);,chr6,26368279,26368279,G,A,het,"splice_donor_variant(HIGH|||c.1G>A|334|BTN3A2|protein_coding|CODING|NM_001197247.2|2|1),splice_donor_variant(HIGH|||c.1G>A|292|BTN3A2|protein_coding|CODING|NM_001197249.2|2|1),splice_donor_variant(HIGH|||c.1G>A|334|BTN3A2|protein_coding|CODING|NM_007047.4|2|1),upstream_gene_variant(MODIFIER||127||334|BTN3A2|protein_coding|CODING|NM_001197246.2||1),intron_variant(MODIFIER|||c.17-514G>A|311|BTN3A2|protein_coding|CODING|NM_001197248.2|1|1),intron_variant(MODIFIER|||c.-6+1G>A|334|BTN3A2|protein_coding|CODING|NM_007047.4|2|1),intron_variant(MODIFIER|||c.-1+1G>A|334|BTN3A2|protein_coding|CODING|NM_001197247.2|2|1),intron_variant(MODIFIER|||c.-42+1G>A|292|BTN3A2|protein_coding|CODING|NM_001197249.2|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0403,0.1123,,,,,,,,,,,,,,,,,,,
synonymous_variant,BTN3A2,SILENT,NM_001197246.2:p.Asn77Asn/c.231C>T,aaC/aaT,LOW,COSM3829841(1),,,rs76764747,,,,,,chr6,26368938,26368938,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn77Asn/c.231C>T|334|BTN3A2|protein_coding|CODING|NM_001197246.2|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn77Asn/c.231C>T|334|BTN3A2|protein_coding|CODING|NM_001197247.2|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn54Asn/c.162C>T|311|BTN3A2|protein_coding|CODING|NM_001197248.2|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn35Asn/c.105C>T|292|BTN3A2|protein_coding|CODING|NM_001197249.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn77Asn/c.231C>T|334|BTN3A2|protein_coding|CODING|NM_007047.4|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K23ac,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,BTN3A2,SILENT,NM_001197246.2:p.Val152Val/c.456C>T,gtC/gtT,LOW,,0.0842652,0.1101,rs34878490,,,,,,chr6,26370572,26370572,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val152Val/c.456C>T|334|BTN3A2|protein_coding|CODING|NM_001197246.2|3|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val152Val/c.456C>T|334|BTN3A2|protein_coding|CODING|NM_001197247.2|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val129Val/c.387C>T|311|BTN3A2|protein_coding|CODING|NM_001197248.2|3|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val110Val/c.330C>T|292|BTN3A2|protein_coding|CODING|NM_001197249.2|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val152Val/c.456C>T|334|BTN3A2|protein_coding|CODING|NM_007047.4|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.135,0.0403,0.1123,0.09,0.04,0.11,,,,,,,,,,,,,,,,
synonymous_variant,BTN3A2,SILENT,NM_001197246.2:p.His163His/c.489T>C,caT/caC,LOW,,0.350439,0.2232,rs9379860,,,,,,chr6,26370605,26370605,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His163His/c.489T>C|334|BTN3A2|protein_coding|CODING|NM_001197246.2|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His163His/c.489T>C|334|BTN3A2|protein_coding|CODING|NM_001197247.2|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His140His/c.420T>C|311|BTN3A2|protein_coding|CODING|NM_001197248.2|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His121His/c.363T>C|292|BTN3A2|protein_coding|CODING|NM_001197249.2|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His163His/c.489T>C|334|BTN3A2|protein_coding|CODING|NM_007047.4|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.3098,0.4135,0.41,0.42,0.40,,,,,,,,,,,,,,,,
missense_variant,BTN3A2,MISSENSE,NM_001197246.2:p.Asn181Asp/c.541A>G,Aac/Gac,MODERATE,,0.0816693,0.0992,rs9358936,1(T),"0.001,0.0(B,B)",-1.01(N),-1.1366(T),,chr6,26370657,26370657,A,G,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn181Asp/c.541A>G|334|BTN3A2|protein_coding|CODING|NM_001197246.2|3|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn181Asp/c.541A>G|334|BTN3A2|protein_coding|CODING|NM_001197247.2|5|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn158Asp/c.472A>G|311|BTN3A2|protein_coding|CODING|NM_001197248.2|3|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn139Asp/c.415A>G|292|BTN3A2|protein_coding|CODING|NM_001197249.2|4|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn181Asp/c.541A>G|334|BTN3A2|protein_coding|CODING|NM_007047.4|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0403,0.1123,0.09,0.04,0.11,,,1.000(P),"-0.92,4.32,4.32,4.16,4.32,4.32,4.73(T,T,T,T,T,T,T)",0.0276(T),0.054,-2.031555,2.31,-4.07,-2.510000,-2.079000,-2.022000,0.002000,0.000000,0.000000,5.8415
synonymous_variant,BTN3A2,SILENT,NM_001197246.2:p.Asn181Asn/c.543C>T,aaC/aaT,LOW,,0.081869,0.0992,rs9393711,,,,,,chr6,26370659,26370659,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn181Asn/c.543C>T|334|BTN3A2|protein_coding|CODING|NM_001197246.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn181Asn/c.543C>T|334|BTN3A2|protein_coding|CODING|NM_001197247.2|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn158Asn/c.474C>T|311|BTN3A2|protein_coding|CODING|NM_001197248.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn139Asn/c.417C>T|292|BTN3A2|protein_coding|CODING|NM_001197249.2|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn181Asn/c.543C>T|334|BTN3A2|protein_coding|CODING|NM_007047.4|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0418,0.1123,0.09,0.04,0.11,,,,,,,,,,,,,,,,
synonymous_variant,BTN3A2,SILENT,NM_001197246.2:p.Asp197Asp/c.591T>C,gaT/gaC,LOW,,0.236022,0.124,rs9379862,,,,,,chr6,26370707,26370707,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp197Asp/c.591T>C|334|BTN3A2|protein_coding|CODING|NM_001197246.2|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp197Asp/c.591T>C|334|BTN3A2|protein_coding|CODING|NM_001197247.2|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp174Asp/c.522T>C|311|BTN3A2|protein_coding|CODING|NM_001197248.2|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp155Asp/c.465T>C|292|BTN3A2|protein_coding|CODING|NM_001197249.2|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp197Asp/c.591T>C|334|BTN3A2|protein_coding|CODING|NM_007047.4|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.1931,0.2396,0.27,0.31,0.25,,,,,,,,,,,,,,,,
missense_variant,BTN3A2,MISSENSE,NM_001197246.2:p.Arg211Lys/c.632G>A,aGa/aAa,MODERATE,COSM3761745(1),0.104633,0.0248,rs35183513,0.02(D),"0.003,0.002(B,B)",1.16(L),-1.0435(T),,chr6,26370748,26370748,G,A,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg211Lys/c.632G>A|334|BTN3A2|protein_coding|CODING|NM_001197246.2|3|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg211Lys/c.632G>A|334|BTN3A2|protein_coding|CODING|NM_001197247.2|5|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg188Lys/c.563G>A|311|BTN3A2|protein_coding|CODING|NM_001197248.2|3|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg169Lys/c.506G>A|292|BTN3A2|protein_coding|CODING|NM_001197249.2|4|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg211Lys/c.632G>A|334|BTN3A2|protein_coding|CODING|NM_007047.4|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1452,0.1095,0.1173,0.13,0.15,0.12,,,1.000(P),"-0.98,3.34,3.34,3.34,3.34,3.34,3.34(T,T,T,T,T,T,T)",0.1166(T),0.134,1.277326,2.31,1.22,0.405000,0.351000,-0.711000,0.282000,0.006000,0.000000,4.3959
synonymous_variant,BTN3A2,SILENT,NM_001197246.2:p.Pro247Pro/c.741C>T,ccC/ccT,LOW,,0.0810703,0.0992,rs12174631,,,,,,chr6,26373150,26373150,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro247Pro/c.741C>T|334|BTN3A2|protein_coding|CODING|NM_001197246.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro247Pro/c.741C>T|334|BTN3A2|protein_coding|CODING|NM_001197247.2|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro224Pro/c.672C>T|311|BTN3A2|protein_coding|CODING|NM_001197248.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro205Pro/c.615C>T|292|BTN3A2|protein_coding|CODING|NM_001197249.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro247Pro/c.741C>T|334|BTN3A2|protein_coding|CODING|NM_007047.4|6|1)","CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.1329,0.0389,0.1103,0.08,0.04,0.11,,,,,,,,,,,,,,,,
missense_variant,BTN3A2,MISSENSE,NM_001197246.2:p.Ser307Asn/c.920G>A,aGc/aAc,MODERATE,COSM4160457(1),0.0810703,0.0992,rs13216828,0.05(D),"0.05,0.01(B,B)",0.69(N),-0.9025(T),,chr6,26373507,26373507,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser307Asn/c.920G>A|334|BTN3A2|protein_coding|CODING|NM_001197246.2|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser307Asn/c.920G>A|334|BTN3A2|protein_coding|CODING|NM_001197247.2|7|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser284Asn/c.851G>A|311|BTN3A2|protein_coding|CODING|NM_001197248.2|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser265Asn/c.794G>A|292|BTN3A2|protein_coding|CODING|NM_001197249.2|6|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser307Asn/c.920G>A|334|BTN3A2|protein_coding|CODING|NM_007047.4|7|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0389,0.1103,0.08,0.04,0.11,,,1.000(P),"4.09,4.09,3.94,4.09,4.09,4.5(T,T,T,T,T,T)",0.0023(T),0.012,1.534478,2.55,-4.61,-0.474000,-1.164000,0.231000,0.627000,0.008000,0.025000,0.4235
missense_variant,BTN2A2,MISSENSE,NM_001197240.1:p.Ala255Pro/c.763G>C,Gct/Cct,MODERATE,,0.0864617,0.12,rs2072803,0(D),0.001(B),,-0.8324(T),,chr6,26392515,26392515,G,C,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala255Pro/c.763G>C|256|BTN2A2|protein_coding|CODING|NM_001197240.1|7|1),intron_variant(MODIFIER|||c.980-88G>C|523|BTN2A2|protein_coding|CODING|NM_001197237.1|7|1),intron_variant(MODIFIER|||c.350-88G>C|313|BTN2A2|protein_coding|CODING|NM_001197239.1|5|1),intron_variant(MODIFIER|||c.980-88G>C|523|BTN2A2|protein_coding|CODING|NM_006995.4|7|1),intron_variant(MODIFIER|||c.632-88G>C|407|BTN2A2|protein_coding|CODING|NM_181531.2|6|1),intron_variant(MODIFIER|||c.979+1458G>C|336|BTN2A2|protein_coding|CODING|NM_001197238.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.135,0.0403,0.1173,,,,,,1.000(P),-2.71(D),0.2915(T),0.066,0.064166,2.38,-2.77,-0.396000,-0.529000,-0.140000,0.039000,0.000000,0.000000,0.3045
missense_variant,BTN2A2,MISSENSE,NM_001197237.1:p.His382Leu/c.1145A>T,cAt/cTt,MODERATE,,0.000798722,0,rs142785600,0.01(D),"0.999,0.941,0.937(D,D,D)",4.055(H),-0.2361(T),,chr6,26392768,26392768,A,T,het,"missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His382Leu/c.1145A>T|523|BTN2A2|protein_coding|CODING|NM_001197237.1|8|1),missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His172Leu/c.515A>T|313|BTN2A2|protein_coding|CODING|NM_001197239.1|6|1),missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His382Leu/c.1145A>T|523|BTN2A2|protein_coding|CODING|NM_006995.4|8|1),missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His266Leu/c.797A>T|407|BTN2A2|protein_coding|CODING|NM_181531.2|7|1),3_prime_UTR_variant(MODIFIER||245|c.*245A>T|256|BTN2A2|protein_coding|CODING|NM_001197240.1|7|1),intron_variant(MODIFIER|||c.979+1711A>T|336|BTN2A2|protein_coding|CODING|NM_001197238.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.003,0.00,0.00,0.00,,0.000072(D),0.970(N),"-0.34,-0.34,-0.34,-0.34,-0.34(T,T,T,T,T)",0.5150(D),0.655,3.051980,3.92,3.92,0.373000,1.559000,0.329000,0.821000,0.624000,0.000000,11.0388
synonymous_variant,BTN2A2,SILENT,NM_001197237.1:p.Ser466Ser/c.1398G>A,tcG/tcA,LOW,,0.579673,0.3323,rs1614887,,,,,,chr6,26393021,26393021,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser466Ser/c.1398G>A|523|BTN2A2|protein_coding|CODING|NM_001197237.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser256Ser/c.768G>A|313|BTN2A2|protein_coding|CODING|NM_001197239.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser466Ser/c.1398G>A|523|BTN2A2|protein_coding|CODING|NM_006995.4|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser350Ser/c.1050G>A|407|BTN2A2|protein_coding|CODING|NM_181531.2|7|1),3_prime_UTR_variant(MODIFIER||498|c.*498G>A|256|BTN2A2|protein_coding|CODING|NM_001197240.1|7|1),intron_variant(MODIFIER|||c.980-1505G>A|336|BTN2A2|protein_coding|CODING|NM_001197238.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4417,0.5029,0.5785,0.65,0.85,0.54,,,,,,,,,,,,,,,,
missense_variant,BTN3A1,MISSENSE,NM_007048.5:p.Phe9Leu/c.25T>C,Ttc/Ctc,MODERATE,,0.0163738,0.0089,rs55676749,0.62(T),"0.007,0.032,0.022,0.007(B,B,B,B)",1.085(L),-1.0375(T),,chr6,26405816,26405816,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe9Leu/c.25T>C|461|BTN3A1|protein_coding|CODING|NM_001145008.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe9Leu/c.25T>C|378|BTN3A1|protein_coding|CODING|NM_001145009.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe9Leu/c.25T>C|513|BTN3A1|protein_coding|CODING|NM_007048.5|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe9Leu/c.25T>C|352|BTN3A1|protein_coding|CODING|NM_194441.2|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0389,0.0199,0.02,0.01,0.02,,,1.000(N),"3.99,1.27,3.42,3.92,-0.56,2.57,0.93(T,T,T,T,T,T,T)",0.0691(T),0.344,1.107171,1.58,0.0608,0.454000,-0.177000,-0.280000,0.001000,0.000000,0.000000,3.8818
synonymous_variant,BTN3A1,SILENT,NM_007048.5:p.Val68Val/c.204G>A,gtG/gtA,LOW,,,,rs3857550,,,,,,chr6,26406255,26406255,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val68Val/c.204G>A|461|BTN3A1|protein_coding|CODING|NM_001145008.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val68Val/c.204G>A|378|BTN3A1|protein_coding|CODING|NM_001145009.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val68Val/c.204G>A|513|BTN3A1|protein_coding|CODING|NM_007048.5|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val68Val/c.204G>A|352|BTN3A1|protein_coding|CODING|NM_194441.2|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,BTN3A1,MISSENSE,NM_007048.5:p.Arg282Thr/c.845G>C,aGa/aCa,MODERATE,,0.0181709,0,rs41266839,0.32(T),"0.065,0.007,0.002,0.001(B,B,B,B)",1.67(L),-1.0510(T),,chr6,26409890,26409890,G,C,het,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg230Thr/c.689G>C|461|BTN3A1|protein_coding|CODING|NM_001145008.1|5|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg282Thr/c.845G>C|378|BTN3A1|protein_coding|CODING|NM_001145009.1|5|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg282Thr/c.845G>C|513|BTN3A1|protein_coding|CODING|NM_007048.5|5|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg282Thr/c.845G>C|352|BTN3A1|protein_coding|CODING|NM_194441.2|5|1)","GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0,0.0288,0.0666,0.06,0.02,0.08,,,1.000(N),"3.92,1.2,3.93,0.86(T,T,T,T)",0.0314(T),0.128,-0.398534,1.06,-1.33,-0.199000,-0.510000,-4.252000,0.003000,0.000000,0.000000,2.4299
missense_variant,BTN2A1,MISSENSE,NM_007049.4:p.Arg124His/c.371G>A,cGc/cAc,MODERATE,,0.00958466,0.003,rs143104579,0.57(T),"0.004,0.005(B,B)",-0.395(N),-1.0513(T),,chr6,26459997,26459997,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg63His/c.188G>A|466|BTN2A1|protein_coding|CODING|NM_001197233.2|2|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg124His/c.371G>A|330|BTN2A1|protein_coding|CODING|NM_001197234.2|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg124His/c.371G>A|527|BTN2A1|protein_coding|CODING|NM_007049.4|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg124His/c.371G>A|334|BTN2A1|protein_coding|CODING|NM_078476.3|3|1)","H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,IMR90:H3K79me2",,,,0.0041,0.0346,0.0159,0.01,0.00,0.02,,0.635905(N),0.999(N),"-0.15,-0.15,-0.15,-0.15,-0.15(T,T,T,T,T)",0.0322(T),0.3,-0.139199,3.01,-1.12,0.561000,-0.282000,-0.791000,0.938000,0.322000,0.000000,7.5001
missense_variant,BTN2A1,MISSENSE,NM_007049.4:p.Trp178Leu/c.533G>T,tGg/tTg,MODERATE,,0.0239617,0,rs13195401,0(D),"1.0,1.0(D,D)",3.745(H),-0.2341(T),,chr6,26463574,26463574,G,T,het,"missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp117Leu/c.350G>T|466|BTN2A1|protein_coding|CODING|NM_001197233.2|3|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp178Leu/c.533G>T|330|BTN2A1|protein_coding|CODING|NM_001197234.2|4|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp178Leu/c.533G>T|527|BTN2A1|protein_coding|CODING|NM_007049.4|4|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp178Leu/c.533G>T|334|BTN2A1|protein_coding|CODING|NM_078476.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0303,0.0686,0.06,0.03,0.08,,0.000118(D),0.597(N),"-0.22,-0.22,-0.22,-0.22(T,T,T,T)",0.4588(T),0.334,2.038076,2.88,2.0,0.561000,0.764000,3.741000,0.137000,0.362000,1.000000,8.118
missense_variant,BTN2A1,MISSENSE,NM_007049.4:p.Trp178Cys/c.534G>T,tgG/tgT,MODERATE,,0.0239617,0,rs13195402,0.03(D),"1.0,1.0(D,D)",3.05(M),-0.0095(T),,chr6,26463575,26463575,G,T,het,"missense_variant(MODERATE|MISSENSE|tgG/tgT|p.Trp117Cys/c.351G>T|466|BTN2A1|protein_coding|CODING|NM_001197233.2|3|1),missense_variant(MODERATE|MISSENSE|tgG/tgT|p.Trp178Cys/c.534G>T|330|BTN2A1|protein_coding|CODING|NM_001197234.2|4|1),missense_variant(MODERATE|MISSENSE|tgG/tgT|p.Trp178Cys/c.534G>T|527|BTN2A1|protein_coding|CODING|NM_007049.4|4|1),missense_variant(MODERATE|MISSENSE|tgG/tgT|p.Trp178Cys/c.534G>T|334|BTN2A1|protein_coding|CODING|NM_078476.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0303,0.0686,0.06,0.03,0.08,,0.000118(D),1.000(D),"-0.28,-0.28,-0.28,-0.28(T,T,T,T)",0.4522(T),0.477,1.784342,2.88,2.88,0.561000,1.896000,5.311000,0.142000,0.394000,1.000000,11.9438
missense_variant,BTN2A1,MISSENSE,NM_007049.4:p.Val207Met/c.619G>A,Gtg/Atg,MODERATE,,0.0373403,0.0089,rs13195509,0.07(T),"0.987,0.97(D,D)",2.455(M),-0.4189(T),,chr6,26463660,26463660,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val146Met/c.436G>A|466|BTN2A1|protein_coding|CODING|NM_001197233.2|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val207Met/c.619G>A|330|BTN2A1|protein_coding|CODING|NM_001197234.2|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val207Met/c.619G>A|527|BTN2A1|protein_coding|CODING|NM_007049.4|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val207Met/c.619G>A|334|BTN2A1|protein_coding|CODING|NM_078476.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0266,0.0346,0.0825,0.08,0.04,0.09,,0.063768(N),0.999(P),"-0.95,-0.95,-0.95,-0.95(T,T,T,T)",0.3851(T),0.133,2.508995,2.88,2.0,0.561000,0.756000,0.225000,0.926000,0.513000,0.012000,4.7866
missense_variant,BTN2A1,MISSENSE,NM_007049.4:p.Arg378Gln/c.1133G>A,cGg/cAg,MODERATE,,0.0379393,0.0099,rs3734542,0.32(T),"0.025,0.015(B,B)",0.895(L),-0.9393(T),,chr6,26468326,26468326,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg317Gln/c.950G>A|466|BTN2A1|protein_coding|CODING|NM_001197233.2|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg378Gln/c.1133G>A|527|BTN2A1|protein_coding|CODING|NM_007049.4|8|1),3_prime_UTR_variant(MODIFIER||357|c.*357G>A|334|BTN2A1|protein_coding|CODING|NM_078476.3|8|1),intron_variant(MODIFIER|||c.982+2010G>A|330|BTN2A1|protein_coding|CODING|NM_001197234.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0297,0.0346,0.0825,0.08,0.04,0.09,,0.379807(N),1.000(P),"2.81,2.81(T,T)",0.0053(T),0.028,-0.668091,2.67,-3.36,0.491000,-0.907000,-5.767000,0.042000,0.001000,0.000000,1.0184
missense_variant,BTN2A1,MISSENSE,NM_007049.4:p.Gly451Ala/c.1352G>C,gGc/gCc,MODERATE,,0.0379393,0.0099,rs3734543,0.05(D),"0.385,0.132(B,B)",2.78(M),-0.5383(T),,chr6,26468545,26468545,G,C,het,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly390Ala/c.1169G>C|466|BTN2A1|protein_coding|CODING|NM_001197233.2|7|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly451Ala/c.1352G>C|527|BTN2A1|protein_coding|CODING|NM_007049.4|8|1),3_prime_UTR_variant(MODIFIER||576|c.*576G>C|334|BTN2A1|protein_coding|CODING|NM_078476.3|8|1),intron_variant(MODIFIER|||c.982+2229G>C|330|BTN2A1|protein_coding|CODING|NM_001197234.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0297,0.0346,0.0825,0.08,0.04,0.09,,0.225196(N),0.838(P),"-1.64,-1.64(D,D)",0.3771(T),0.115,1.605979,2.6,0.669,0.491000,0.127000,3.331000,0.335000,0.075000,0.872000,5.8105
synonymous_variant,BTN2A1,SILENT,NM_007049.4:p.Arg489Arg/c.1467G>A,agG/agA,LOW,,0.16234,0.1161,rs3734544,,,,,,chr6,26468660,26468660,G,A,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg428Arg/c.1284G>A|466|BTN2A1|protein_coding|CODING|NM_001197233.2|7|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg489Arg/c.1467G>A|527|BTN2A1|protein_coding|CODING|NM_007049.4|8|1),3_prime_UTR_variant(MODIFIER||691|c.*691G>A|334|BTN2A1|protein_coding|CODING|NM_078476.3|8|1),intron_variant(MODIFIER|||c.982+2344G>A|330|BTN2A1|protein_coding|CODING|NM_001197234.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1697,0.1081,0.1759,0.18,0.20,0.17,,,,,,,,,,,,,,,,
missense_variant,BTN1A1,MISSENSE,NM_001732.2:p.Pro521Ser/c.1561C>T,Ccc/Tcc,MODERATE,,0.038139,0.0089,rs35555795,0.01(D),0.141(B),0.975(L),-1.0478(T),,chr6,26509382,26509382,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro521Ser/c.1561C>T|526|BTN1A1|protein_coding|CODING|NM_001732.2|7|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0307,0.0346,0.0815,0.07,0.04,0.09,,0.320212(N),1.000(P),1.24(T),0.0189(T),0.03,0.817509,5.41,-2.07,-0.768000,-0.673000,-1.703000,0.155000,0.001000,0.000000,1.5958
synonymous_variant,ABT1,SILENT,NM_013375.3:p.Lys41Lys/c.123A>G,aaA/aaG,LOW,COSM1754697(1),0.708666,0.7917,rs3800302,,,,,,chr6,26597333,26597333,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys41Lys/c.123A>G|272|ABT1|protein_coding|CODING|NM_013375.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,GM12878:ATF3,HMEC:H3K27ac,CD4:H4K20me1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,K562:H3K9ac,HepG2:ATF3,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:FOXA2,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:FOXA1,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.7791,0.6412,0.5696,0.65,0.70,0.62,,,,,,,,,,,,,,,,
missense_variant,ZNF322,MISSENSE,NM_001242797.1:p.Tyr353Cys/c.1058A>G,tAc/tGc,MODERATE,,0.0175719,0,rs139332558,1(T),0.001(B),-3.13(N),-0.9004(T),,chr6,26637724,26637724,T,C,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr353Cys/c.1058A>G|402|ZNF322|protein_coding|CODING|NM_001242797.1|5|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr353Cys/c.1058A>G|402|ZNF322|protein_coding|CODING|NM_001242798.1|3|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr353Cys/c.1058A>G|402|ZNF322|protein_coding|CODING|NM_001242799.1|3|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr353Cys/c.1058A>G|402|ZNF322|protein_coding|CODING|NM_024639.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0259,0.0676,0.05,0.01,0.08,,0.000856(D),0.992(D),"3.64,3.64(T,T)",0.0006(T),0.22,-0.956764,4.9,3.76,0.533000,2.171000,3.629000,0.951000,0.261000,0.998000,5.5273
synonymous_variant,ZNF322,SILENT,NM_001242797.1:p.His93His/c.279C>T,caC/caT,LOW,,,,rs148210763,,,,,,chr6,26638503,26638503,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His93His/c.279C>T|402|ZNF322|protein_coding|CODING|NM_001242797.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His93His/c.279C>T|402|ZNF322|protein_coding|CODING|NM_001242798.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His93His/c.279C>T|402|ZNF322|protein_coding|CODING|NM_001242799.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His93His/c.279C>T|402|ZNF322|protein_coding|CODING|NM_024639.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.19,0.19,0.20,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H2BK,SILENT,NM_080593.2:p.Pro51Pro/c.153C>T,ccC/ccT,LOW,COSM1487540(2),,,rs202101103,,,,,,chr6,27114425,27114425,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro51Pro/c.153C>T|126|HIST1H2BK|protein_coding|CODING|NM_080593.2|1|1),upstream_gene_variant(MODIFIER||436||128|HIST1H2AH|protein_coding|CODING|NM_080596.2||1),upstream_gene_variant(MODIFIER||980|||MIR3143||NON_CODING|NR_036096.1||1)","GM12878:Cmyc,H1ESC:PolII,K562:TAF7,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:POU2F2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,GM12878:SP1,GM12878:ZEB1,NH-A:H3K27ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,K562:NELFe,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:BCLAF1,GM12878:Tcf12,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,POM121L2,MISSENSE,NM_033482.3:p.Ser913Ile/c.2738G>T,aGc/aTc,MODERATE,,0.00419329,0,rs41269257,0.04(D),0.836(P),2.015(M),-1.0918(T),,chr6,27277212,27277212,C,A,het,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser913Ile/c.2738G>T|1035|POM121L2|protein_coding|CODING|NM_033482.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0.0159,0.0099,0.01,0.00,0.01,,,1.000(N),"1.49,1.49(T,T)",0.0684(T),0.308,2.141060,3.71,1.93,0.305000,0.572000,0.520000,0.057000,0.008000,0.001000,5.9522
missense_variant,POM121L2,MISSENSE,NM_033482.3:p.Gly850Ser/c.2548G>A,Ggc/Agc,MODERATE,,0.979034,0.9901,rs6456773,1(T),0.0(B),-0.975(N),-0.9241(T),,chr6,27277402,27277402,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly850Ser/c.2548G>A|1035|POM121L2|protein_coding|CODING|NM_033482.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9243,0.9928,0.9841,0.98,1.00,0.98,,0.001829(N),1.000(P),"2.91,2.95(T,T)",0.0022(T),0.023,-0.539025,3.52,0.985,-0.893000,-0.058000,-0.500000,0.483000,0.001000,0.000000,6.2225
missense_variant,POM121L2,MISSENSE,NM_033482.3:p.Gly644Cys/c.1930G>T,Ggt/Tgt,MODERATE,,0.144369,0.0288,rs16897515,0.01(D),0.982(D),1.32(L),-1.0736(T),,chr6,27278020,27278020,C,A,hom,missense_variant(MODERATE|MISSENSE|Ggt/Tgt|p.Gly644Cys/c.1930G>T|1035|POM121L2|protein_coding|CODING|NM_033482.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",Schizophrenia,,,0.1022,0.147,0.168,0.20,0.25,0.18,,0.823423(N),1.000(P),"2.3,2.31(T,T)",0.0373(T),0.154,2.958304,3.96,0.825,-0.350000,0.148000,1.292000,0.640000,0.000000,0.002000,5.5069
missense_variant,ZNF184,MISSENSE,NM_007149.2:p.Ala27Ser/c.79G>T,Gcg/Tcg,MODERATE,,0.618211,0.5774,rs1883216,1(T),0.0(B),-1.28(N),-1.0391(T),,chr6,27425185,27425185,C,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala27Ser/c.79G>T|751|ZNF184|protein_coding|CODING|NM_007149.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.6715,0.6451,0.60,0.53,0.63,,0.001372(N),1.000(P),"5.77,5.77(T,T)",0.0002(T),0.065,-0.248095,4.32,3.17,-0.256000,0.449000,1.456000,0.963000,0.996000,0.914000,3.7677
missense_variant,HIST1H2BL,MISSENSE,NM_003519.3:p.Leu4Pro/c.11T>C,cTg/cCg,MODERATE,,0.120607,0.0655,rs200484,1(T),0.0(B),-1.515(N),-0.9362(T),,chr6,27775674,27775674,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu4Pro/c.11T>C|126|HIST1H2BL|protein_coding|CODING|NM_003519.3|1|1),upstream_gene_variant(MODIFIER||303||130|HIST1H2AI|protein_coding|CODING|NM_003509.2||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:SP1,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HMEC:H3K4me2,HepG2:PolII,HepG2:SP1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,K562:NELFe,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,GM12878:Cfos,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.0767,0.1412,0.0865,0.14,0.19,0.11,,,0.022(P),2.3(T),0.0037(T),0.09,-1.273737,4.35,4.35,-0.128000,1.126000,2.724000,0.012000,0.497000,0.997000,12.3065
synonymous_variant,HIST1H2AL,SILENT,NM_003511.2:p.Lys14Lys/c.42A>G,aaA/aaG,LOW,,0.122604,0.0655,rs200981,,,,,,chr6,27833174,27833174,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys14Lys/c.42A>G|130|HIST1H2AL|protein_coding|CODING|NM_003511.2|1|1),downstream_gene_variant(MODIFIER||1396||226|HIST1H1B|protein_coding|CODING|NM_005322.2||1)","GM12878:Cmyc,H1ESC:PolII,CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:SP1,H1ESC:H3K27ac,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:POU2F2,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,GM12878:SP1,NH-A:H3K27ac,GM12878:ZEB1,HUVEC:H3K4me2,HeLa-S3:E2F4,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,GM12878:Cfos,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:PU1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:E2F4",,,,0.0982,0.1398,0.0895,0.14,0.19,0.11,,,,,,,,,,,,,,,,
missense_variant,HIST1H1B,MISSENSE,NM_005322.2:p.Pro121His/c.362C>A,cCc/cAc,MODERATE,,,,rs149729430,0.01(D),0.671(P),2.65(M),-1.0952(T),,chr6,27834946,27834946,G,T,het,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro121His/c.362C>A|226|HIST1H1B|protein_coding|CODING|NM_005322.2|1|1),downstream_gene_variant(MODIFIER||1370||130|HIST1H2AL|protein_coding|CODING|NM_003511.2||1)","H1ESC:PolII,CD4:H3K9me1,NHEK:H3K9ac,K562:TAF7,CD4:H2AZ,NHEK:H3K27ac,GM12878:ZBTB33,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,CD4:H3K4me3,GM12878:BCLAF1,HepG2:PolII,HMEC:H3K4me2,GM12878:POU2F2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K4me2,CD4:H3K4me2,H1ESC:Jund,HUVEC:H3K27ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:BCLAF1",,,,,,,0.00,0.00,0.00,,0.033766(N),0.999(D),2.45(T),0.0640(T),0.504,2.477093,5.43,5.43,0.655000,2.716000,4.246000,0.146000,0.968000,1.000000,14.1553
synonymous_variant,HIST1H1B,SILENT,NM_005322.2:p.Gly30Gly/c.90C>T,ggC/ggT,LOW,,0.0205671,0,rs17763089,,,,,,chr6,27835218,27835218,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly30Gly/c.90C>T|226|HIST1H1B|protein_coding|CODING|NM_005322.2|1|1),downstream_gene_variant(MODIFIER||1642||130|HIST1H2AL|protein_coding|CODING|NM_003511.2||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,K562:TAF7,CD4:H2AZ,NHEK:H3K27ac,GM12878:ZBTB33,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:SP1,GM12878:MEF2C,H1ESC:H3K27ac,IMR90:DNase1,CD4:H3K4me3,GM12878:BCLAF1,HepG2:PolII,HMEC:H3K4me2,GM12878:POU2F2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HUVEC:H3K4me2,HeLa-S3:PolII,GM12878:Pbx3,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:BCLAF1,GM12878:Tcf12",,,,0,0.0389,0.0726,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H1B,SILENT,NM_005322.2:p.Pro12Pro/c.36A>G,ccA/ccG,LOW,,0.112021,0.0645,rs200948,,,,,,chr6,27835272,27835272,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro12Pro/c.36A>G|226|HIST1H1B|protein_coding|CODING|NM_005322.2|1|1),downstream_gene_variant(MODIFIER||1696||130|HIST1H2AL|protein_coding|CODING|NM_003511.2||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,K562:TAF7,CD4:H2AZ,NHEK:H3K27ac,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:SP1,GM12878:MEF2C,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:BCLAF1,HepG2:PolII,HMEC:H3K4me2,GM12878:POU2F2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HUVEC:H3K4me2,HeLa-S3:PolII,GM12878:Pbx3,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:BCLAF1,GM12878:Tcf12",,,,0.0767,0.1383,0.0875,0.11,0.14,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H3I,SILENT,NM_003533.2:p.Lys116Lys/c.348A>G,aaA/aaG,LOW,COSM3761751(1),0.254193,0.1389,rs200956,,,,,,chr6,27839746,27839746,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys116Lys/c.348A>G|136|HIST1H3I|protein_coding|CODING|NM_003533.2|1|1),downstream_gene_variant(MODIFIER||1180||103|HIST1H4L|protein_coding|CODING|NM_003546.2||1)","H1ESC:PolII,CD4:H3K9me1,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,CD4:H3K4me3,GM12878:BCLAF1,CD4:H3K27ac,HMEC:H3K4me2,GM12878:POU2F2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HMEC:CTCF,HUVEC:H3K4me2,IMR90:H3K27ac,GM12878:PolII,CD4:CTCF,CD4:H3K4ac,CD4:PolII,NHEK:H3K4me2,HUVEC:H3K27ac,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,H1ESC:CTCF,GM06990:CTCF",,,,0.1963,0.2305,0.1511,0.25,0.42,0.16,,,,,,,,,,,,,,,,
synonymous_variant,HIST1H3J,SILENT,NM_003535.2:p.Arg50Arg/c.150T>C,cgT/cgC,LOW,,0.144169,0.0714,rs200973,,,,,,chr6,27858421,27858421,A,G,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg50Arg/c.150T>C|136|HIST1H3J|protein_coding|CODING|NM_003535.2|1|1),"GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:Max,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,IMR90:H3K4me2,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:BCLAF1,HMEC:H3K4me2,GM12878:POU2F2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Cmyc,HUVEC:H3K4me2,GM12878:MEF2A,K562:E2F6,GM12878:Pbx3,K562:H3K9ac,GM12878:PolII,CD4:PolII,NHEK:H3K4me2,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:TAF7,GM12878:DNase1,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4",,,,0.1217,0.1542,0.1461,0.17,0.20,0.16,,,,,,,,,,,,,,,,
missense_variant,OR2B2,MISSENSE,NM_033057.2:p.Ala300Ser/c.898G>T,Gcc/Tcc,MODERATE,,0.0217652,0,rs34788973,0(D),0.64(P),0.705(N),-1.0518(T),,chr6,27879200,27879200,C,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala300Ser/c.898G>T|357|OR2B2|protein_coding|CODING|NM_033057.2|1|1),"HUVEC:H3K27me3,K562:H3K36me3,HepG2:H3K27me3",,,,0,0.0303,0.0736,0.07,0.04,0.09,,0.001518(U),1.000(P),0.92(T),0.0606(T),0.197,1.551573,3.6,3.6,0.313000,2.293000,0.875000,0.577000,0.998000,0.165000,11.0202
missense_variant,OR2B2,MISSENSE,NM_033057.2:p.Ile39Thr/c.116T>C,aTc/aCc,MODERATE,,0.0217652,0,rs61742093,0(D),0.606(P),2.695(M),-0.9446(T),,chr6,27879982,27879982,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile39Thr/c.116T>C|357|OR2B2|protein_coding|CODING|NM_033057.2|1|1),"HUVEC:H3K27me3,K562:H3K36me3,HepG2:H3K27me3",,,,0,0.0303,0.0736,0.07,0.04,0.09,,0.001233(U),1.000(P),6.06(T),0.0035(T),0.251,1.496750,4.37,4.37,0.460000,1.901000,5.072000,0.124000,0.994000,0.732000,12.1623
synonymous_variant,ZKSCAN8,SILENT,NM_001278119.1:p.Gln280Gln/c.840G>A,caG/caA,LOW,COSM3761752(1),0.219649,0.1875,rs17774663,,,,,,chr6,28120898,28120898,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln280Gln/c.840G>A|578|ZKSCAN8|protein_coding|CODING|NM_001278119.1|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln93Gln/c.279G>A|391|ZKSCAN8|protein_coding|CODING|NM_001278121.1|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln93Gln/c.279G>A|391|ZKSCAN8|protein_coding|CODING|NM_001278122.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln280Gln/c.840G>A|578|ZKSCAN8|protein_coding|CODING|NM_006298.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1442,0.2608,0.1968,0.24,0.28,0.22,,,,,,,,,,,,,,,,
missense_variant,ZKSCAN4,MISSENSE,NM_019110.3:p.Ser33Phe/c.98C>T,tCc/tTc,MODERATE,,0.139377,0.128,rs9986596,0.7(T),0.005(B),0.55(N),-0.9089(T),,chr6,28219661,28219661,G,A,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser33Phe/c.98C>T|545|ZKSCAN4|protein_coding|CODING|NM_019110.3|1|1),"NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,K562:Gabp,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:H2AZ",,,,0.0828,0.1225,0.1143,0.17,0.22,0.14,,,1.000(P),3.39(T),0.0029(T),0.032,1.325696,4.61,-0.381,0.563000,0.092000,0.730000,0.164000,0.000000,0.000000,3.8039
missense_variant,NKAPL,MISSENSE,NM_001007531.2:p.Glu398Gly/c.1193A>G,gAg/gGg,MODERATE,,0.85004,0.872,rs1679709,1(T),0.0(B),-0.55(N),-0.9396(T),,chr6,28228342,28228342,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu398Gly/c.1193A>G|402|NKAPL|protein_coding|CODING|NM_001007531.2|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9172,0.8732,0.8837,0.82,0.74,0.86,,0.000000(N),1.000(P),2.59(T),0.0043(T),0.062,0.471002,4.63,4.63,-0.119000,1.322000,7.244000,0.973000,1.000000,1.000000,11.0692
missense_variant,ZSCAN26,MISSENSE,NM_001023560.3:p.Arg73Gln/c.218G>A,cGg/cAg,MODERATE,,0.152157,0.13,rs11965538,,,,,,chr6,28239915,28239915,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg73Gln/c.218G>A|477|ZSCAN26|protein_coding|CODING|NM_001111039.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg73Gln/c.218G>A|478|ZSCAN26|protein_coding|CODING|NM_001023560.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.-89-4057G>A|270|ZSCAN26|protein_coding|CODING|NM_001287422.1|1|1),intron_variant(MODIFIER|||c.15+203G>A|344|ZSCAN26|protein_coding|CODING|NM_001287421.1|2|1),intron_variant(MODIFIER|||c.15+203G>A|344|ZSCAN26|protein_coding|CODING|NM_152736.5|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.1254,0.1163,,,,,,,,,,,,,,,,,,,
missense_variant,PGBD1,MISSENSE,NM_001184743.1:p.Val187Leu/c.559G>C,Gtt/Ctt,MODERATE,,0.00519169,0,rs41269293,0.03(D),0.007(B),0.55(N),-0.9230(T),,chr6,28254862,28254862,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val187Leu/c.559G>C|809|PGBD1|protein_coding|CODING|NM_001184743.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val187Leu/c.559G>C|809|PGBD1|protein_coding|CODING|NM_032507.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0086,0.0189,0.01,0.00,0.01,,,1.000(N),"4.91,4.91(T,T)",0.0014(T),0.011,0.014475,4.35,1.55,-0.251000,0.178000,1.296000,0.166000,0.005000,0.292000,6.977
missense_variant,PGBD1,MISSENSE,NM_001184743.1:p.Asn398Ser/c.1193A>G,aAt/aGt,MODERATE,,0.0241613,0.001,rs33932084,0.67(T),0.002(B),0.205(N),-0.9946(T),,chr6,28268824,28268824,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn398Ser/c.1193A>G|809|PGBD1|protein_coding|CODING|NM_001184743.1|7|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn398Ser/c.1193A>G|809|PGBD1|protein_coding|CODING|NM_032507.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0,0.0216,0.0706,0.08,0.06,0.09,,0.113751(N),0.982(N),"4.95,4.95(T,T)",0.0008(T),0.051,0.807549,4.54,-0.61,0.533000,-0.170000,-0.220000,0.995000,0.992000,0.064000,7.3919
missense_variant,PGBD1,MISSENSE,NM_001184743.1:p.Ile678Val/c.2032A>G,Ata/Gta,MODERATE,COSM3761757(2),0.591653,0.6012,rs1997660,1(T),0.001(B),-1.01(N),-0.9030(T),,chr6,28269663,28269663,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile678Val/c.2032A>G|809|PGBD1|protein_coding|CODING|NM_001184743.1|7|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile678Val/c.2032A>G|809|PGBD1|protein_coding|CODING|NM_032507.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4816,0.4597,0.3091,0.49,0.83,0.32,,0.440090(N),1.000(P),"2.32,2.32(T,T)",0.0037(T),0.017,-2.168088,4.48,3.61,-0.186000,0.640000,1.091000,0.339000,0.675000,0.082000,7.387
missense_variant,ZSCAN31,MISSENSE,NM_001135216.1:p.Lys205Arg/c.614A>G,aAa/aGa,MODERATE,COSM3761758(1),0.615615,0.6042,rs853684,0.69(T),0.0(B),-0.895(N),-0.9347(T),,chr6,28294550,28294550,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys205Arg/c.614A>G|406|ZSCAN31|protein_coding|CODING|NM_001135216.1|4|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys205Arg/c.614A>G|406|ZSCAN31|protein_coding|CODING|NM_001243241.1|4|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys46Arg/c.137A>G|247|ZSCAN31|protein_coding|CODING|NM_001243242.1|4|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys46Arg/c.137A>G|247|ZSCAN31|protein_coding|CODING|NM_001243243.1|3|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys46Arg/c.137A>G|247|ZSCAN31|protein_coding|CODING|NM_001243244.1|3|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys205Arg/c.614A>G|406|ZSCAN31|protein_coding|CODING|NM_030899.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.502,0.4899,0.3807,0.54,0.85,0.38,,,1.000(P),"3.43,3.43,3.43,3.38,3.43,3.45,5.95,4.41(T,T,T,T,T,T,T,T)",0.0014(T),0.118,0.184589,4.32,-0.837,-1.201000,-0.197000,-0.260000,0.021000,0.015000,0.004000,0.317
missense_variant,ZSCAN31,MISSENSE,NM_001243241.1:p.Thr50Ser/c.148A>T,Act/Tct,MODERATE,,0.179912,0.129,rs386503519,0.4(T),0.021(B),0.575(N),-0.9001(T),,chr6,28297313,28297313,T,A,het,"missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr50Ser/c.148A>T|406|ZSCAN31|protein_coding|CODING|NM_001243241.1|2|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr50Ser/c.148A>T|406|ZSCAN31|protein_coding|CODING|NM_001135216.1|2|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr50Ser/c.148A>T|406|ZSCAN31|protein_coding|CODING|NM_030899.4|2|1),intron_variant(MODIFIER|||c.-96-2003A>T|247|ZSCAN31|protein_coding|CODING|NM_001243242.1|2|1),intron_variant(MODIFIER|||c.-96-2003A>T|247|ZSCAN31|protein_coding|CODING|NM_001243243.1|1|1),intron_variant(MODIFIER|||c.-96-2003A>T|247|ZSCAN31|protein_coding|CODING|NM_001243244.1|1|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.0838,0.1369,0.1193,0.21,0.34,0.14,,,1.000(P),"3.71,3.71,3.71,3.71,3.71,3.71,3.71,3.71,3.71,3.71(T,T,T,T,T,T,T,T,T,T)",0.0025(T),0.115,1.582386,4.56,-1.04,0.460000,0.191000,0.881000,0.996000,0.415000,0.041000,0.5838
missense_variant,ZKSCAN3,MISSENSE,NM_001242894.1:p.Arg3Thr/c.8G>C,aGa/aCa,MODERATE,COSM4003848(1),0.10643,0.2381,rs733743,1(T),0.276(B),0.695(N),-1.0109(T),,chr6,28327371,28327371,G,C,het,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg3Thr/c.8G>C|538|ZKSCAN3|protein_coding|CODING|NM_001242894.1|3|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg3Thr/c.8G>C|538|ZKSCAN3|protein_coding|CODING|NM_024493.3|2|1),intron_variant(MODIFIER|||c.-42-1730G>C|390|ZKSCAN3|protein_coding|CODING|NM_001242895.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0573,0.1153,0.0775,0.07,0.06,0.07,,,0.005(P),"3.58,3.58(T,T)",0.0030(T),0.155,2.079483,3.83,2.87,0.557000,2.139000,1.544000,0.193000,0.603000,0.167000,7.0597
missense_variant,ZKSCAN3,MISSENSE,NM_001242894.1:p.Lys200Glu/c.598A>G,Aaa/Gaa,MODERATE,COSM4006229(2),0.389776,0.2986,rs13201752,1(T),0.014(B),0(N),-0.9718(T),,chr6,28331127,28331127,A,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys200Glu/c.598A>G|538|ZKSCAN3|protein_coding|CODING|NM_001242894.1|5|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys52Glu/c.154A>G|390|ZKSCAN3|protein_coding|CODING|NM_001242895.1|3|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys200Glu/c.598A>G|538|ZKSCAN3|protein_coding|CODING|NM_024493.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3804,0.3213,0.2843,0.36,0.49,0.30,,,1.000(P),"2.55,2.55,2.55(T,T,T)",0.0034(T),0.03,-2.933332,2.99,-5.98,-2.444000,-2.492000,-1.587000,0.002000,0.000000,0.000000,9.4241
missense_variant,ZKSCAN3,MISSENSE,NM_001242894.1:p.Lys200Thr/c.599A>C,aAa/aCa,MODERATE,COSM4006230(2),0.389776,0.2986,rs13201753,0.46(T),0.0(B),-0.345(N),-0.8942(T),,chr6,28331128,28331128,A,C,het,"missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys200Thr/c.599A>C|538|ZKSCAN3|protein_coding|CODING|NM_001242894.1|5|1),missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys52Thr/c.155A>C|390|ZKSCAN3|protein_coding|CODING|NM_001242895.1|3|1),missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys200Thr/c.599A>C|538|ZKSCAN3|protein_coding|CODING|NM_024493.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3804,0.3213,0.2843,0.36,0.49,0.29,,,1.000(P),"2.54,2.54,2.54(T,T,T)",0.0044(T),0.037,-1.538627,2.99,-0.126,-1.122000,-0.315000,-0.151000,0.002000,0.000000,0.000000,6.7841
missense_variant,ZSCAN12,MISSENSE,NM_001163391.1:p.Cys583Arg/c.1747T>C,Tgt/Cgt,MODERATE,,0.386382,0.2996,rs1361385,,,,,,chr6,28358320,28358320,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys583Arg/c.1747T>C|611|ZSCAN12|protein_coding|CODING|NM_001163391.1|4|1),intron_variant(MODIFIER|||n.1873+53T>C||ZSCAN12||CODING|NR_028077.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.3271,0.2893,0.36,0.47,0.32,,,,,,,,,,,,,,,,
missense_variant,ZSCAN12,MISSENSE,NM_001163391.1:p.Arg578Gly/c.1732C>G,Cgt/Ggt,MODERATE,,0.386382,0.2996,rs1416918,,,,,,chr6,28358335,28358335,G,C,het,"missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg578Gly/c.1732C>G|611|ZSCAN12|protein_coding|CODING|NM_001163391.1|4|1),intron_variant(MODIFIER|||n.1873+38C>G||ZSCAN12||CODING|NR_028077.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.3271,0.2893,0.36,0.47,0.32,,,,,,,,,,,,,,,,
synonymous_variant,ZSCAN12,SILENT,NM_001163391.1:p.Asp299Asp/c.897T>C,gaT/gaC,LOW,COSM4160480(1),0.640575,0.5952,rs2859348,,,,,,chr6,28359170,28359170,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp299Asp/c.897T>C|611|ZSCAN12|protein_coding|CODING|NM_001163391.1|4|1),non_coding_exon_variant(MODIFIER|||n.1076T>C||ZSCAN12||CODING|NR_028077.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5337,0.4942,0.4583,0.57,0.87,0.45,,,,,,,,,,,,,,,,
missense_variant,ZSCAN12,MISSENSE,NM_001163391.1:p.Arg294Lys/c.881G>A,aGg/aAg,MODERATE,,0.108027,0.2282,rs2232430,0.17(T),"0.137,0.021(B,B)",1.26(L),-1.0321(T),,chr6,28359186,28359186,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg294Lys/c.881G>A|611|ZSCAN12|protein_coding|CODING|NM_001163391.1|4|1),non_coding_exon_variant(MODIFIER|||n.1060G>A||ZSCAN12||CODING|NR_028077.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0552,0.1138,0.0736,0.07,0.09,0.07,,0.002130(N),0.924(P),"2.22,2.22(T,T)",0.0151(T),0.113,1.512386,4.25,3.38,0.650000,1.006000,0.281000,0.975000,0.987000,0.000000,8.1147
missense_variant,ZSCAN12,MISSENSE,NM_001163391.1:p.Met11Thr/c.32T>C,aTg/aCg,MODERATE,,0.0231629,0,rs2232423,0.31(T),"0.0,0.0(B,B)",0(N),-0.8994(T),,chr6,28366151,28366151,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met11Thr/c.32T>C|611|ZSCAN12|protein_coding|CODING|NM_001163391.1|2|1),non_coding_exon_variant(MODIFIER|||n.211T>C||ZSCAN12||CODING|NR_028077.1|2|1)","K562:H3K4me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,K562:H3K9ac,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2",,,,0,0.0216,0.0686,0.08,0.04,0.10,,0.988573(N),1.000(N),"3.35,3.35(T,T)",0.0025(T),0.043,-0.117064,3.26,-0.902,-0.418000,-0.281000,-1.260000,0.042000,0.000000,0.000000,0.7463
missense_variant,HLA-B,MISSENSE,NM_005514.6.3:p.Arg180Trp/c.538C>T,Cgg/Tgg,MODERATE,,0.166933,0.2401,rs9266144,0.41(T),0.009(B),0.115(N),-0.9397(T),,chr6,31324025,31324025,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg180Trp/c.538C>T|362|HLA-B|protein_coding|CODING|NM_005514.6.3|3|1),upstream_gene_variant(MODIFIER||932|||MIR6891||NON_CODING|NR_106951.1.10||1)","H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HSMM:H3K27me3,HeLa-S3:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.181,0.1527,0.1551,,,,,0.104292(N),1.000(P),"9.46,5.5,9.46(T,T,T)",0.0004(T),0.552,-0.962555,3.18,-6.36,-2.014000,-4.708000,-10.352000,0.001000,0.000000,0.000000,2.0485
synonymous_variant,HLA-B,SILENT,NM_005514.6.3:p.Thr162Thr/c.486G>A,acG/acA,LOW,,,,,,,,,,chr6,31324077,31324077,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr162Thr/c.486G>A|362|HLA-B|protein_coding|CODING|NM_005514.6.3|3|1),upstream_gene_variant(MODIFIER||984|||MIR6891||NON_CODING|NR_106951.1.10||1)","H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HSMM:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,HLA-B,MISSENSE,NM_005514.6.3:p.Ser101Asn/c.302G>A,aGc/aAc,MODERATE,COSM4160810(1),0.35643,0.2778,,1(T),"0.001,0.002,0.003(B,B,B)",-0.865(N),-0.9275(T),,chr6,31324506,31324506,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser101Asn/c.302G>A|362|HLA-B|protein_coding|CODING|NM_005514.6.3|2|1),upstream_gene_variant(MODIFIER||1413|||MIR6891||NON_CODING|NR_106951.1.10||1)","NHEK:H3K9ac,HeLa-S3:DNase1,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,CD4:H2AK9ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:PolII,HSMM:H3K27me3,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4581,0.2695,0.336,0.17,0.21,0.15,,0.082421(U),1.000(P),"5.85,5.85(T,T)",0.0002(T),0.438,-0.038735,3.2,-6.41,-1.879000,-2.643000,-1.957000,0.000000,0.000000,0.000000,7.9991
missense_variant,HLA-DRB1,MISSENSE,NM_002124.3:p.Ala100Thr/c.298G>A,Gcg/Acg,MODERATE,COSM4160968(2),,,,0.05(D),0.058(B),0.995(L),-1.0094(T),,chr6,32551958,32551958,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala100Thr/c.298G>A|266|HLA-DRB1|protein_coding|CODING|NM_002124.3|2|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly91Asp/c.272G>A|257|HLA-DRB1|protein_coding|CODING|NM_001243965.1.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","CD4:H2AZ,CD4:H3K18ac,HUVEC:H3K27me3,CD4:H2BK5ac,GM12878:H3K4me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HSMM:H3K27me3,CD4:H2BK120ac,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac",,,,,,,0.29,0.21,0.32,,0.000001(N),1.000(P),8.11(T),0.0001(T),0.651,1.993888,3.52,-7.04,-0.517000,-1.314000,-6.035000,0.000000,0.000000,0.000000,5.9518
missense_variant,HLA-DRB1,MISSENSE,NM_001243965.1.5:p.Arg78Cys/c.232C>T,Cgc/Tgc,MODERATE,COSM3830225(2),,,rs17853228,,,,,,chr6,32551998,32551998,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg78Cys/c.232C>T|257|HLA-DRB1|protein_coding|CODING|NM_001243965.1.5|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp86Asp/c.258C>T|266|HLA-DRB1|protein_coding|CODING|NM_002124.3|2|1)","CD4:H2AZ,CD4:H3K18ac,HUVEC:H3K27me3,CD4:H2BK5ac,GM12878:H3K4me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HSMM:H3K27me3,CD4:H2BK120ac,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,HLA-DQA1,SILENT,NM_002122.3:p.His30His/c.90C>T,caC/caT,LOW,,0.339058,0.4514,,,,,-1.0208(T),,chr6,32609094,32609094,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His30His/c.90C>T|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|2|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:H3K79me2,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3885,0.3991,0.2684,0.22,0.21,0.22,,,0.000(P),,0.0554(T),.,-0.237898,3.84,-3.45,0.462000,-0.758000,-4.803000,0.047000,0.020000,0.000000,10.9663
missense_variant,HLA-DQA1,MISSENSE,NM_002122.3:p.Tyr48Phe/c.143A>T,tAc/tTc,MODERATE,COSM3949052(3),0.256589,0.2798,,,,,-1.0348(T),,chr6,32609147,32609147,A,T,het,missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr48Phe/c.143A>T|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|2|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:H3K79me2,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4959,0.1729,0.2107,0.14,0.10,0.17,,,0.980(P),,0.0005(T),.,-0.715060,3.83,2.64,-0.757000,0.636000,-0.574000,0.011000,0.739000,0.003000,7.9549
missense_variant,HLA-DQA1,MISSENSE,NM_002122.3:p.Arg64Lys/c.191G>A,aGg/aAg,MODERATE,COSM3949053(2),0.114617,0.131,,,,,-1.0188(T),,chr6,32609195,32609195,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg64Lys/c.191G>A|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|2|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:H3K79me2,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2638,0.0764,0.0696,0.08,0.06,0.10,,,0.998(P),,0.0003(T),.,-2.138877,3.84,1.32,-0.448000,0.186000,1.664000,0.003000,0.425000,1.000000,3.789
synonymous_variant,HLA-DQA1,SILENT,NM_002122.3:p.Ile132Ile/c.396T>C,atT/atC,LOW,,0.673722,0.7024,,,,,-1.0550(T),,chr6,32609813,32609813,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile132Ile/c.396T>C|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|3|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7219,0.7767,0.6759,0.60,0.51,0.65,,,0.000(P),,0.0852(T),.,-0.142560,4.1,3.23,-0.726000,0.521000,0.767000,0.307000,0.993000,1.000000,8.4091
missense_variant,HLA-DQA1,MISSENSE,NM_002122.3:p.Gln152His/c.456G>C,caG/caC,MODERATE,COSM3733803(1),0.544329,0.5188,,1(T),"0.0,0.0(B,B)",,-1.0108(T),,chr6,32609873,32609873,G,C,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln152His/c.456G>C|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|3|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6135,0.6816,0.5447,,,,,0.008129(N),1.000(P),"3.98,3.98,3.98,3.98(T,T,T,T)",0.0284(T),0.342,-2.213036,4.1,-1.5,-0.120000,-0.368000,-2.534000,0.518000,0.000000,0.000000,4.1939
missense_variant,HLA-DQA1,MISSENSE,NM_002122.3:p.Ser153Ala/c.457T>G,Tca/Gca,MODERATE,,0.108427,0.1171,,0.14(T),"0.056,0.001(B,B)",,-1.0576(T),,chr6,32609874,32609874,T,G,het,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser153Ala/c.457T>G|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|3|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2536,0.0663,0.0666,,,,,0.132111(N),1.000(P),"4.15,4.15,4.15,4.15(T,T,T,T)",0.0146(T),0.274,0.448876,4.1,-6.01,-0.290000,-0.795000,-1.111000,0.555000,0.000000,0.000000,4.1694
missense_variant,HLA-DQA1,MISSENSE,NM_002122.3:p.Met230Val/c.688A>G,Atg/Gtg,MODERATE,COSM4161007(2),0.809305,0.8145,,1(T),0.0(B),,-0.9808(T),,chr6,32610461,32610461,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met230Val/c.688A>G|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|4|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8824,0.9049,0.8241,0.72,0.65,0.76,,0.499051(N),1.000(P),"5.02,5.02,5.02(T,T,T)",0.0007(T),0.101,-2.788314,4.08,2.29,-0.131000,0.162000,0.172000,0.027000,0.498000,0.084000,6.5993
synonymous_variant,HLA-DQA1,SILENT,NM_002122.3:p.Pro254Pro/c.762A>C,ccA/ccC,LOW,COSM3747676(3),0.636781,0.6438,,,,,,,chr6,32610535,32610535,A,C,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro254Pro/c.762A>C|255|HLA-DQA1|protein_coding|CODING|NM_002122.3|4|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6933,0.7435,0.6471,0.47,0.40,0.50,,,,,,,,,,,,,,,,
missense_variant,HLA-DQB1,MISSENSE,NM_001243961.1:p.Tyr62His/c.184T>C,Tac/Cac,MODERATE,COSM3761953(1),,,rs1049069,0.17(T),"0.112,0.029,0.029,0.019(B,B,B,B)",1.485(L),-1.0743(T),,chr6,32632770,32632770,A,G,het,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr62His/c.184T>C|269|HLA-DQB1|protein_coding|CODING|NM_001243961.1|2|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr62His/c.184T>C|261|HLA-DQB1|protein_coding|CODING|NM_002123.4|2|1)","HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,0.28,0.26,0.29,,0.596956(U),1.000(P),"8.09,8.09,8.09,8.09(T,T,T,T)",0.0002(T),0.25,-0.383452,3.91,-0.0624,-0.902000,-0.159000,-0.539000,0.002000,0.009000,0.000000,4.3567
synonymous_variant,HLA-DQB1,SILENT,NM_001243961.1:p.Val59Val/c.177G>A,gtG/gtA,LOW,COSM3774257(2),0.0946486,0.0427,rs1049068,,,,,,chr6,32632777,32632777,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val59Val/c.177G>A|269|HLA-DQB1|protein_coding|CODING|NM_001243961.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val59Val/c.177G>A|261|HLA-DQB1|protein_coding|CODING|NM_002123.4|2|1)","HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.1084,0.0908,0.1233,0.13,0.11,0.13,,,,,,,,,,,,,,,,
missense_variant,HLA-DQB1,MISSENSE,NM_001243961.1:p.Phe41Tyr/c.122T>A,tTc/tAc,MODERATE,,0.759385,0.744,rs9274407,0.81(T),"0.001,0.0,0.0(B,B,B)",,-0.8803(T),,chr6,32632832,32632832,A,T,het,"missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe41Tyr/c.122T>A|269|HLA-DQB1|protein_coding|CODING|NM_001243961.1|2|1),missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe41Tyr/c.122T>A|261|HLA-DQB1|protein_coding|CODING|NM_002123.4|2|1)","HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1",Drug_induced_liver_injury_amoxicillin_clavulanate,,,0.7597,0.8127,0.8101,0.78,0.72,0.81,,0.024831(N),1.000(P),"3.44,3.44,3.44,3.44(T,T,T,T)",0.0027(T),0.049,-2.521611,4.13,-8.25,-2.883000,-4.723000,-8.542000,0.012000,0.000000,0.000000,16.4276
synonymous_variant,ITPR3,SILENT,NM_002224.3:p.His721His/c.2163C>T,caC/caT,LOW,,0.490815,0.5238,rs2077163,,,,,,chr6,33636907,33636907,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His721His/c.2163C>T|2671|ITPR3|protein_coding|CODING|NM_002224.3|18|1),"H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,CD4:H2BK120ac,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1",,,,0.6115,0.4827,0.504,0.48,0.39,0.53,,,,,,,,,,,,,,,,
synonymous_variant,ITPR3,SILENT,NM_002224.3:p.Gly756Gly/c.2268C>T,ggC/ggT,LOW,,0.335463,0.4722,rs2229634,,,,,,chr6,33638180,33638180,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly756Gly/c.2268C>T|2671|ITPR3|protein_coding|CODING|NM_002224.3|19|1),"H1ESC:H3K36me3,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.281,0.2833,0.26,0.18,0.30,,,,,,,,,,,,,,,,
synonymous_variant,ITPR3,SILENT,NM_002224.3:p.Asn980Asn/c.2940T>C,aaT/aaC,LOW,,0.47504,0.5268,rs1803831,,,,,,chr6,33641379,33641379,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn980Asn/c.2940T>C|2671|ITPR3|protein_coding|CODING|NM_002224.3|23|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6115,0.4813,0.505,0.46,0.33,0.53,,,,,,,,,,,,,,,,
splice_donor_variant,ITPR3,protein_coding,NM_002224.3:c.4346C>T,,HIGH,,0.913738,0.9881,rs2229638,,,,,ITPR3:1.00(1);,chr6,33648228,33648228,C,T,hom,"splice_donor_variant(HIGH|||c.4346C>T|2671|ITPR3|protein_coding|CODING|NM_002224.3|32|1),intron_variant(MODIFIER|||c.4345+2C>T|2671|ITPR3|protein_coding|CODING|NM_002224.3|32|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9254,0.9366,0.9185,0.88,0.86,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ITPR3,SILENT,NM_002224.3:p.Gly1837Gly/c.5511C>T,ggC/ggT,LOW,COSM3722214(2),0.510383,0.8621,rs749338,,,,,,chr6,33653448,33653448,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1837Gly/c.5511C>T|2671|ITPR3|protein_coding|CODING|NM_002224.3|41|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.5692,0.4632,0.35,0.19,0.43,,,,,,,,,,,,,,,,
missense_variant,ITPR3,MISSENSE,NM_002224.3:p.Arg1850Gln/c.5549G>A,cGg/cAg,MODERATE,COSM3761996(1),0.0333466,0.005,rs12528378,0.58(T),0.079(B),0.85(L),-0.7543(T),,chr6,33653486,33653486,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1850Gln/c.5549G>A|2671|ITPR3|protein_coding|CODING|NM_002224.3|41|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0174,0.062,0.0984,0.07,0.02,0.10,,0.044353(N),1.000(N),-2.92(D),0.3133(T),0.045,1.306279,4.69,3.81,0.313000,0.960000,1.127000,0.906000,1.000000,0.800000,5.0338
missense_variant,ITPR3,MISSENSE,NM_002224.3:p.Leu2436Val/c.7306C>G,Ctc/Gtc,MODERATE,,0.579673,0.8998,rs2229642,0.35(T),"0.002,0.0(B,B)",0.345(N),-0.9540(T),,chr6,33659472,33659472,C,G,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu2436Val/c.7306C>G|2671|ITPR3|protein_coding|CODING|NM_002224.3|53|1),"H1ESC:H3K36me3,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8149,0.6138,0.4851,0.41,0.31,0.46,,0.988773(N),1.000(P),-2.84(D),0.2535(T),0.063,-1.540438,5.24,2.02,-0.216000,0.331000,0.566000,0.048000,0.004000,0.290000,3.5621
missense_variant,IP6K3,MISSENSE,NM_001142883.1:p.Val312Ile/c.934G>A,Gtc/Atc,MODERATE,,0.51258,0.8442,rs4713668,0.39(T),0.166(B),1.28(L),-1.0150(T),,chr6,33690796,33690796,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val312Ile/c.934G>A|410|IP6K3|protein_coding|CODING|NM_001142883.1|7|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val312Ile/c.934G>A|410|IP6K3|protein_coding|CODING|NM_054111.4|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7229,0.5778,0.4702,0.35,0.18,0.43,,0.000815(N),0.127(P),"2.25,2.25(T,T)",0.0167(T),0.047,2.577765,5.99,5.12,0.655000,1.534000,4.011000,0.291000,0.899000,0.999000,11.8663
synonymous_variant,IP6K3,SILENT,NM_001142883.1:p.Ser311Ser/c.933T>C,tcT/tcC,LOW,,0.531949,0.8591,rs4711341,,,,,,chr6,33690797,33690797,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser311Ser/c.933T>C|410|IP6K3|protein_coding|CODING|NM_001142883.1|7|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser311Ser/c.933T>C|410|IP6K3|protein_coding|CODING|NM_054111.4|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.773,0.5865,0.4761,0.36,0.20,0.44,,,,,,,,,,,,,,,,
synonymous_variant,IP6K3,SILENT,NM_001142883.1:p.Pro55Pro/c.165G>A,ccG/ccA,LOW,COSM3761997(1),0.0778754,0.0218,rs623813,,,,,,chr6,33703089,33703089,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro55Pro/c.165G>A|410|IP6K3|protein_coding|CODING|NM_001142883.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro55Pro/c.165G>A|410|IP6K3|protein_coding|CODING|NM_054111.4|2|1)","GM06990:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.0481,0.098,0.1551,0.13,0.09,0.16,,,,,,,,,,,,,,,,
synonymous_variant,IP6K3,SILENT,NM_001142883.1:p.Asp8Asp/c.24C>T,gaC/gaT,LOW,COSM451325(2),0.333866,0.0675,rs545787,,,,,,chr6,33703230,33703230,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp8Asp/c.24C>T|410|IP6K3|protein_coding|CODING|NM_001142883.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp8Asp/c.24C>T|410|IP6K3|protein_coding|CODING|NM_054111.4|2|1)","GM06990:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.1616,0.2378,0.331,0.46,0.64,0.36,,,,,,,,,,,,,,,,
missense_variant,MLN,MISSENSE,NM_002418.2:p.Val15Ala/c.44T>C,gTa/gCa,MODERATE,,0.631589,0.8562,rs2281820,0.68(T),"0.0,0.0(B,B)",0.83(L),-1.0538(T),,chr6,33768897,33768897,A,G,het,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val15Ala/c.44T>C|114|MLN|protein_coding|CODING|NM_001040109.1|2|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val15Ala/c.44T>C|108|MLN|protein_coding|CODING|NM_001184698.1|2|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val15Ala/c.44T>C|115|MLN|protein_coding|CODING|NM_002418.2|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7628,0.5216,0.5368,0.56,0.51,0.58,,0.543508(N),1.000(P),"0.71,0.71,0.71(T,T,T)",0.0270(T),0.067,-0.818365,5.43,-1.12,-0.812000,-0.651000,-0.753000,0.000000,0.000000,0.000000,7.2176
missense_variant,C6orf1,MISSENSE,NM_001008703.2:p.Gly150Ala/c.449G>C,gGg/gCg,MODERATE,COSM1443927(4),0.765176,0.8611,rs1150781,1(T),0.015(B),0(N),-0.9787(T),,chr6,34214322,34214322,C,G,hom,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly150Ala/c.449G>C|159|C6orf1|protein_coding|CODING|NM_001008703.2|5|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly150Ala/c.449G>C|159|C6orf1|protein_coding|CODING|NM_001008704.2|5|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly150Ala/c.449G>C|159|C6orf1|protein_coding|CODING|NM_001287396.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly130Ala/c.389G>C|139|C6orf1|protein_coding|CODING|NM_001287397.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly130Ala/c.389G>C|139|C6orf1|protein_coding|CODING|NM_001287398.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly150Ala/c.449G>C|159|C6orf1|protein_coding|CODING|NM_178508.4|5|1),downstream_gene_variant(MODIFIER||314||96|HMGA1|protein_coding|CODING|NM_002131.3||1),downstream_gene_variant(MODIFIER||314||107|HMGA1|protein_coding|CODING|NM_145899.2||1),downstream_gene_variant(MODIFIER||314||107|HMGA1|protein_coding|CODING|NM_145901.2||1),downstream_gene_variant(MODIFIER||314||96|HMGA1|protein_coding|CODING|NM_145902.2||1),downstream_gene_variant(MODIFIER||314||96|HMGA1|protein_coding|CODING|NM_145903.2||1),downstream_gene_variant(MODIFIER||314||96|HMGA1|protein_coding|CODING|NM_145905.2||1)","H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,K562:PolII,K562:CTCF,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HepG2:PolII,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K36me3,CD4:PolII,H1ESC:Jund,HepG2:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",Height,,,0.9479,0.6599,0.9215,0.79,0.57,0.90,,,1.000(P),"1.03,1.01,1.03,1.03,1.01,1.03(T,T,T,T,T,T)",0.0113(T),0.077,1.223356,3.62,0.412,0.563000,-0.069000,-0.280000,0.020000,0.001000,0.000000,3.219
missense_variant,C6orf1,MISSENSE,NM_001008703.2:p.Met141Ile/c.423G>A,atG/atA,MODERATE,COSM4161092(1),0.0371406,0.0089,rs34410712,0(D),0.017(B),0(N),-0.9856(T),,chr6,34214348,34214348,C,T,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met141Ile/c.423G>A|159|C6orf1|protein_coding|CODING|NM_001008703.2|5|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met141Ile/c.423G>A|159|C6orf1|protein_coding|CODING|NM_001008704.2|5|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met141Ile/c.423G>A|159|C6orf1|protein_coding|CODING|NM_001287396.1|5|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met121Ile/c.363G>A|139|C6orf1|protein_coding|CODING|NM_001287397.1|4|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met121Ile/c.363G>A|139|C6orf1|protein_coding|CODING|NM_001287398.1|4|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met141Ile/c.423G>A|159|C6orf1|protein_coding|CODING|NM_178508.4|5|1),downstream_gene_variant(MODIFIER||340||96|HMGA1|protein_coding|CODING|NM_002131.3||1),downstream_gene_variant(MODIFIER||340||107|HMGA1|protein_coding|CODING|NM_145899.2||1),downstream_gene_variant(MODIFIER||340||107|HMGA1|protein_coding|CODING|NM_145901.2||1),downstream_gene_variant(MODIFIER||340||96|HMGA1|protein_coding|CODING|NM_145902.2||1),downstream_gene_variant(MODIFIER||340||96|HMGA1|protein_coding|CODING|NM_145903.2||1),downstream_gene_variant(MODIFIER||340||96|HMGA1|protein_coding|CODING|NM_145905.2||1)","H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,K562:PolII,K562:CTCF,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HepG2:PolII,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,HepG2:H3K36me3,CD4:PolII,H1ESC:Jund,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.0501,0.0461,0.0795,0.06,0.02,0.08,,,1.000(P),"1.44,1.43,1.44,1.44,1.43,1.44(T,T,T,T,T,T)",0.0108(T),0.098,-0.240033,1.36,-2.1,0.453000,-0.599000,-0.980000,0.013000,0.000000,0.000000,2.8005
synonymous_variant,UHRF1BP1,SILENT,NM_017754.3:p.Ala285Ala/c.855C>T,gcC/gcT,LOW,,0.461462,0.4633,rs4259246,,,,,,chr6,34803947,34803947,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala285Ala/c.855C>T|1440|UHRF1BP1|protein_coding|CODING|NM_017754.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2791,0.3069,0.335,0.44,0.66,0.34,,,,,,,,,,,,,,,,
missense_variant,UHRF1BP1,MISSENSE,NM_017754.3:p.Lys404Asn/c.1212A>C,aaA/aaC,MODERATE,COSM3761999(1),0.110823,0.3016,rs16894945,1(T),0.02(B),0(N),-0.9101(T),,chr6,34824107,34824107,A,C,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys404Asn/c.1212A>C|1440|UHRF1BP1|protein_coding|CODING|NM_017754.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0941,0.0778,0.0606,0.05,0.04,0.06,,0.000080(D),0.323(P),"3.11,3.11(T,T)",0.0027(T),0.065,0.931551,5.97,2.38,0.533000,0.527000,1.941000,0.997000,0.997000,1.000000,5.7378
missense_variant,UHRF1BP1,MISSENSE,NM_017754.3:p.Gln454Arg/c.1361A>G,cAg/cGg,MODERATE,COSM3762000(2),0.467652,0.4583,rs11755393,0.62(T),0.0(B),-0.69(N),-0.9024(T),,chr6,34824636,34824636,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln454Arg/c.1361A>G|1440|UHRF1BP1|protein_coding|CODING|NM_017754.3|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2924,0.3127,0.3539,0.45,0.66,0.35,,0.741495(N),1.000(P),"3.14,3.14(T,T)",0.0031(T),0.034,0.867634,5.93,5.01,-0.119000,1.546000,2.535000,0.600000,0.794000,0.997000,7.3674
synonymous_variant,UHRF1BP1,SILENT,NM_017754.3:p.Thr1101Thr/c.3303G>A,acG/acA,LOW,COSM3762001(1),0.463458,0.4573,rs3734264,,,,,,chr6,34831866,34831866,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1101Thr/c.3303G>A|1440|UHRF1BP1|protein_coding|CODING|NM_017754.3|15|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2894,0.3112,0.338,0.44,0.65,0.34,,,,,,,,,,,,,,,,
synonymous_variant,ANKS1A,SILENT,NM_015245.2:p.Tyr192Tyr/c.576C>T,taC/taT,LOW,,0.550519,0.4058,rs2293242,,,,,,chr6,34949607,34949607,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr192Tyr/c.576C>T|1134|ANKS1A|protein_coding|CODING|NM_015245.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6391,0.7075,0.7942,0.67,0.44,0.79,,,,,,,,,,,,,,,,
missense_variant,ANKS1A,MISSENSE,NM_015245.2:p.Leu694Ser/c.2081T>C,tTa/tCa,MODERATE,,0.990415,1,rs820085,0.94(T),"0.0,0.0(B,B)",-1.15(N),-1.0118(T),,chr6,35027927,35027927,T,C,hom,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu694Ser/c.2081T>C|1134|ANKS1A|protein_coding|CODING|NM_015245.2|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.96,1.00,,0.022731(N),0.000(P),1.35(T),0.0104(T),0.071,0.328704,5.68,5.68,-0.642000,1.423000,3.787000,0.654000,1.000000,1.000000,13.2091
synonymous_variant,ANKS1A,SILENT,NM_015245.2:p.Pro916Pro/c.2748G>A,ccG/ccA,LOW,,0.844249,0.877,rs2177382,,,,,,chr6,35050506,35050506,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro916Pro/c.2748G>A|1134|ANKS1A|protein_coding|CODING|NM_015245.2|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9121,0.8718,0.841,0.82,0.78,0.83,,,,,,,,,,,,,,,,
synonymous_variant,ZNF76,SILENT,NM_003427.4:p.His368His/c.1104C>T,caC/caT,LOW,COSM150075(3),0.6252,0.6369,rs1557567,,,,,,chr6,35260503,35260503,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His368His/c.1104C>T|515|ZNF76|protein_coding|CODING|NM_001292032.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His368His/c.1104C>T|570|ZNF76|protein_coding|CODING|NM_003427.4|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8333,0.7277,0.8131,0.65,0.35,0.81,,,,,,,,,,,,,,,,
synonymous_variant,ZNF76,SILENT,NM_003427.4:p.Ser377Ser/c.1131C>T,agC/agT,LOW,COSM4161106(2),,,rs1557568,,,,,,chr6,35260530,35260530,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser377Ser/c.1131C>T|515|ZNF76|protein_coding|CODING|NM_001292032.1|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser377Ser/c.1131C>T|570|ZNF76|protein_coding|CODING|NM_003427.4|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.65,0.35,0.81,,,,,,,,,,,,,,,,
missense_variant,DEF6,MISSENSE,NM_022047.3:p.Asn287Thr/c.860A>C,aAc/aCc,MODERATE,,0.907748,0.9891,rs2395617,0.42(T),"0.0,0.008(B,B)",0.9(L),-0.9828(T),,chr6,35285720,35285720,A,C,hom,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn287Thr/c.860A>C|631|DEF6|protein_coding|CODING|NM_022047.3|6|1),"HepG2:H3K4me2,HSMM:H2AZ,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:H3K4me2,CD4:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HSMM:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.956,0.915,0.8946,0.87,0.83,0.89,,0.000547(N),1.000(P),"1.48,2.66(T,T)",0.0162(T),0.004,1.859812,5.35,3.57,-0.366000,0.261000,1.680000,0.970000,0.999000,0.346000,3.8456
synonymous_variant,PPARD,SILENT,NM_001171818.1:p.Asn163Asn/c.489C>T,aaC/aaT,LOW,,0.680511,0.7361,rs2076167,,,,,,chr6,35391787,35391787,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn163Asn/c.489C>T|441|PPARD|protein_coding|CODING|NM_001171818.1|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn124Asn/c.372C>T|402|PPARD|protein_coding|CODING|NM_001171819.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn65Asn/c.195C>T|343|PPARD|protein_coding|CODING|NM_001171820.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn163Asn/c.489C>T|441|PPARD|protein_coding|CODING|NM_006238.4|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn163Asn/c.489C>T|361|PPARD|protein_coding|CODING|NM_177435.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8323,0.7853,0.7714,0.65,0.44,0.76,,,,,,,,,,,,,,,,
synonymous_variant,FANCE,SILENT,NM_021922.2:p.Pro129Pro/c.387A>C,ccA/ccC,LOW,,0.777955,0.7133,rs4713867,,,,,,chr6,35423662,35423662,A,C,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro129Pro/c.387A>C|536|FANCE|protein_coding|CODING|NM_021922.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7669,0.817,0.6779,0.74,0.86,0.67,,,,,,,,,,,,,,,,
missense_variant,TULP1,MISSENSE,NM_003322.4:p.Lys261Asn/c.783G>C,aaG/aaC,MODERATE,,0.838458,0.8641,rs2064318,1(T),"0.0,0.0(B,B)",-1.895(N),-1.0338(T),,chr6,35477025,35477025,C,G,hom,"missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys208Asn/c.624G>C|489|TULP1|protein_coding|CODING|NM_001289395.1|7|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys261Asn/c.783G>C|542|TULP1|protein_coding|CODING|NM_003322.4|8|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000080090.1,,0.7331,0.8833,0.7863,0.84,0.89,0.82,,0.017773(N),0.994(P),"-1.32,-1.34(T,T)",0.0389(T),0.179,-1.127509,4.6,3.73,-0.357000,0.571000,0.813000,0.534000,1.000000,1.000000,6.5805
missense_variant,TULP1,MISSENSE,NM_003322.4:p.Ile259Thr/c.776T>C,aTa/aCa,MODERATE,COSM150076(4),0.39397,0.499,,1(T),"0.0,0.0(B,B)",-1.525(N),-1.0566(T),,chr6,35477032,35477032,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile206Thr/c.617T>C|489|TULP1|protein_coding|CODING|NM_001289395.1|7|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile259Thr/c.776T>C|542|TULP1|protein_coding|CODING|NM_003322.4|8|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000086077.1,,0.4254,0.3329,0.3648,0.37,0.35,0.37,,0.747564(N),1.000(P),"-1.25,-1.26(T,T)",0.0388(T),0.159,-2.320881,4.5,3.62,-0.355000,0.513000,0.696000,0.137000,0.260000,0.662000,6.4263
missense_variant,TULP1,MISSENSE,NM_003322.4:p.Thr67Arg/c.200C>G,aCg/aGg,MODERATE,COSM3749972(4),0.874401,0.8671,rs7764472,1(T),0.0(B),-0.345(N),-0.9099(T),,chr6,35479574,35479574,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr67Arg/c.200C>G|542|TULP1|protein_coding|CODING|NM_003322.4|4|1),intron_variant(MODIFIER|||c.190+383C>G|489|TULP1|protein_coding|CODING|NM_001289395.1|3|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7566,0.9049,0.8181,0.90,0.97,0.86,,0.000050(N),1.000(P),-1.28(T),0.0709(T),0.03,-1.377422,3.86,0.724,-3.149000,-0.239000,-0.278000,0.181000,0.000000,0.000000,5.1914
synonymous_variant,ARMC12,SILENT,NM_145028.4:p.Tyr111Tyr/c.333T>C,taT/taC,LOW,COSM4161113(1),0.759385,0.5794,rs2817041,,,,,,chr6,35705892,35705892,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr84Tyr/c.252T>C|340|ARMC12|protein_coding|CODING|NM_001286574.1|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr84Tyr/c.252T>C|330|ARMC12|protein_coding|CODING|NM_001286576.1|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr111Tyr/c.333T>C|367|ARMC12|protein_coding|CODING|NM_145028.4|2|1),upstream_gene_variant(MODIFIER||1168|||LOC285847||NON_CODING|NR_027117.2||1)","K562:CTCF,H1ESC:H3K27me3",,,,0.774,0.8473,0.8002,0.80,0.78,0.81,,,,,,,,,,,,,,,,
missense_variant,CLPSL2,MISSENSE,NM_001286550.1:p.Arg79Cys/c.235C>T,Cgc/Tgc,MODERATE,,0.720847,0.623,rs2478467,0.09(T),0.0(B),,-1.0140(T),,chr6,35745655,35745655,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg79Cys/c.235C>T|153|CLPSL2|protein_coding|CODING|NM_001286550.1|3|1),intron_variant(MODIFIER|||n.211+1074C>T||CLPSL2||CODING|NR_104469.1|1|1),intron_variant(MODIFIER|||c.207+297C>T|100|CLPSL2|protein_coding|CODING|NM_207409.3|2|1),intron_variant(MODIFIER|||n.334+297C>T||CLPSL2||CODING|NR_104467.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7157,0.6182,0.6571,0.72,0.86,0.66,,,1.000(P),,0.0225(T),0.061,0.663725,2.62,-1.55,-0.490000,-0.742000,-2.881000,0.174000,0.000000,0.000000,1.1452
missense_variant,CLPSL1,MISSENSE,NM_001010886.3:p.Phe15Ser/c.44T>C,tTc/tCc,MODERATE,COSM3762003(2),0.296526,0.2917,rs34109614,0.1(T),0.0(B),-1.1(N),-0.9960(T),,chr6,35748931,35748931,T,C,het,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe15Ser/c.44T>C|121|CLPSL1|protein_coding|CODING|NM_001010886.3|1|1),downstream_gene_variant(MODIFIER||1602||153|CLPSL2|protein_coding|CODING|NM_001286550.1||1),downstream_gene_variant(MODIFIER||1602||100|CLPSL2|protein_coding|CODING|NM_207409.3||1),downstream_gene_variant(MODIFIER||1602|||CLPSL2||CODING|NR_104467.1||1),downstream_gene_variant(MODIFIER||1602|||CLPSL2||CODING|NR_104469.1||1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2781,0.2522,0.2992,0.32,0.33,0.32,,0.419874(N),1.000(P),"1.48,1.49(T,T)",0.0083(T),0.035,-2.049623,1.62,-0.45,-0.741000,-0.170000,-0.240000,0.038000,0.000000,0.010000,2.9097
synonymous_variant,CLPSL1,SILENT,NM_001010886.3:p.Gln79Gln/c.237A>G,caA/caG,LOW,,0.364816,0.2649,rs12211728,,,,,,chr6,35755658,35755658,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln79Gln/c.237A>G|121|CLPSL1|protein_coding|CODING|NM_001010886.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.4315,0.3847,0.4324,0.38,0.31,0.41,,,,,,,,,,,,,,,,
missense_variant,SLC26A8,MISSENSE,NM_001193476.1:p.Ile639Val/c.1915A>G,Att/Gtt,MODERATE,COSM1568382(2),0.407548,0.2758,rs2295852,0.65(T),"0.001,0.01,0.001(B,B,B)",0.955(L),-0.5739(T),,chr6,35923246,35923246,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile639Val/c.1915A>G|970|SLC26A8|protein_coding|CODING|NM_001193476.1|17|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile639Val/c.1915A>G|970|SLC26A8|protein_coding|CODING|NM_052961.3|17|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile534Val/c.1600A>G|865|SLC26A8|protein_coding|CODING|NM_138718.2|15|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2945,0.2867,0.3529,0.45,0.64,0.35,,0.693768(N),1.000(P),"-3.16,-3.54,-3.16(D,D,D)",0.3478(T),0.097,-0.012529,5.01,-4.99,-2.418000,-1.280000,-1.320000,0.001000,0.000000,0.000000,2.4043
synonymous_variant,MAPK13,SILENT,NM_002754.4:p.Thr17Thr/c.51A>C,acA/acC,LOW,COSM1487700(7),0.748602,0.9454,rs1059227,,,,,,chr6,36098410,36098410,A,C,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr17Thr/c.51A>C|365|MAPK13|protein_coding|CODING|NM_002754.4|1|1),non_coding_exon_variant(MODIFIER|||n.150A>C||MAPK13||CODING|NR_072996.1|1|1)","NHEK:H3K4me3,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM12878:ZEB1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:TAF1,HepG2:DNase1,CD4:H2BK120ac,GM12878:H3K4me2,HMEC:H3K4me3,NHEK:DNase1",,,,0.5971,0.7176,0.6441,0.69,0.76,0.66,,,,,,,,,,,,,,,,
missense_variant,PNPLA1,MISSENSE,NM_001145717.1:p.Pro423His/c.1268C>A,cCc/cAc,MODERATE,COSM4161120(1),0.282348,0.1756,rs12199580,0.14(T),"0.005,0.035(B,B)",0.55(N),-1.0223(T),,chr6,36270130,36270130,C,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro337His/c.1010C>A|446|PNPLA1|protein_coding|CODING|NM_001145716.2|6|1),missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro423His/c.1268C>A|532|PNPLA1|protein_coding|CODING|NM_001145717.1|6|1),missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro328His/c.983C>A|437|PNPLA1|protein_coding|CODING|NM_173676.2|6|1)","H1ESC:H3K36me3,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2515,0.5231,0.4036,0.36,0.21,0.43,,0.460552(N),1.000(P),"1.32,1.31,1.3,1.3(T,T,T,T)",0.0210(T),0.049,1.363188,4.64,1.74,0.650000,0.112000,0.074000,0.121000,0.002000,0.004000,5.3121
missense_variant,PNPLA1,MISSENSE,NM_001145717.1:p.Thr490Met/c.1469C>T,aCg/aTg,MODERATE,COSM3762010(1),0.240415,0.1032,rs12197079,0.28(T),"0.0,0.0(B,B)",-0.345(N),-1.0179(T),,chr6,36274153,36274153,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr404Met/c.1211C>T|446|PNPLA1|protein_coding|CODING|NM_001145716.2|7|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr490Met/c.1469C>T|532|PNPLA1|protein_coding|CODING|NM_001145717.1|7|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr395Met/c.1184C>T|437|PNPLA1|protein_coding|CODING|NM_173676.2|7|1),splice_region_variant(LOW|||c.1211C>T|446|PNPLA1|protein_coding|CODING|NM_001145716.2|7|1),splice_region_variant(LOW|||c.1469C>T|532|PNPLA1|protein_coding|CODING|NM_001145717.1|7|1),splice_region_variant(LOW|||c.1184C>T|437|PNPLA1|protein_coding|CODING|NM_173676.2|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2914,0.1859,0.2565,0.30,0.32,0.29,,0.101010(N),1.000(P),"1.89,1.89,1.66,1.66(T,T,T,T)",0.0109(T),0.04,0.983174,4.25,-3.36,-0.361000,-0.715000,-3.405000,0.005000,0.000000,0.000000,6.6281
missense_variant,PNPLA1,MISSENSE,NM_001145717.1:p.Ser522Pro/c.1564T>C,Tcg/Ccg,MODERATE,,0.648363,0.6091,rs4713956,1(T),"0.0,0.0(B,B)",-0.975(N),-0.9485(T),,chr6,36275458,36275458,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser436Pro/c.1306T>C|446|PNPLA1|protein_coding|CODING|NM_001145716.2|8|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser522Pro/c.1564T>C|532|PNPLA1|protein_coding|CODING|NM_001145717.1|8|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser427Pro/c.1279T>C|437|PNPLA1|protein_coding|CODING|NM_173676.2|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5706,0.6643,0.6352,0.66,0.72,0.63,,0.828792(N),1.000(P),"1.97,1.97,1.74,1.74(T,T,T,T)",0.0049(T),0.057,-1.017690,5.34,2.53,-0.825000,-0.019000,0.419000,0.001000,0.000000,0.000000,2.7662
missense_variant,C6orf222,MISSENSE,NM_001010903.4:p.Leu582Val/c.1744C>G,Ctg/Gtg,MODERATE,,0.388379,0.2183,rs743852,0.02(D),0.993(D),2.42(M),-0.4542(T),,chr6,36287312,36287312,G,C,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu582Val/c.1744C>G|652|C6orf222|protein_coding|CODING|NM_001010903.4|11|1),"NHEK:CTCF,HeLa-S3:Cmyc,HeLa-S3:DNase1,HUVEC:H3K27me3,HeLa-S3:Max,GM12878:H3K36me3,HeLa-S3:H3K4me2,HeLa-S3:CTCF,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4213,0.3689,0.5596,0.50,0.40,0.56,,0.002217(N),0.993(P),0.02(T),0.2894(T),0.21,3.704316,5.43,3.6,0.563000,1.398000,0.853000,0.973000,0.704000,0.600000,7.0432
synonymous_variant,ETV7,SILENT,NM_016135.3:p.Pro140Pro/c.420A>T,ccA/ccT,LOW,COSM1754768(2),0.0654952,0.1468,rs60760162,,,,,,chr6,36341243,36341243,T,A,het,"synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro140Pro/c.420A>T|317|ETV7|protein_coding|CODING|NM_001207035.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro85Pro/c.255A>T|286|ETV7|protein_coding|CODING|NM_001207036.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro81Pro/c.243A>T|282|ETV7|protein_coding|CODING|NM_001207037.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro140Pro/c.420A>T|264|ETV7|protein_coding|CODING|NM_001207038.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro85Pro/c.255A>T|262|ETV7|protein_coding|CODING|NM_001207039.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro59Pro/c.177A>T|260|ETV7|protein_coding|CODING|NM_001207040.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro140Pro/c.420A>T|341|ETV7|protein_coding|CODING|NM_016135.3|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||190|ETV7|protein_coding|CODING|NM_001207041.1|2|1),5_prime_UTR_variant(MODIFIER||1926|c.-34A>T|190|ETV7|protein_coding|CODING|NM_001207041.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0327,0.0187,0.005,0.03,0.07,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ETV7,SILENT,NM_016135.3:p.Gly123Gly/c.369G>A,ggG/ggA,LOW,COSM3762014(2),0.21845,0.2391,rs3213530,,,,,,chr6,36341294,36341294,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly123Gly/c.369G>A|317|ETV7|protein_coding|CODING|NM_001207035.1|4|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly68Gly/c.204G>A|286|ETV7|protein_coding|CODING|NM_001207036.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly64Gly/c.192G>A|282|ETV7|protein_coding|CODING|NM_001207037.1|4|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly123Gly/c.369G>A|264|ETV7|protein_coding|CODING|NM_001207038.1|4|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly68Gly/c.204G>A|262|ETV7|protein_coding|CODING|NM_001207039.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly42Gly/c.126G>A|260|ETV7|protein_coding|CODING|NM_001207040.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly123Gly/c.369G>A|341|ETV7|protein_coding|CODING|NM_016135.3|4|1),5_prime_UTR_variant(MODIFIER||1977|c.-85G>A|190|ETV7|protein_coding|CODING|NM_001207041.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.181,0.3415,0.1501,0.17,0.20,0.15,,,,,,,,,,,,,,,,
synonymous_variant,RAB44,SILENT,NM_001257357.1:p.Leu373Leu/c.1119A>C,ctA/ctC,LOW,,0.71905,0.6835,rs236478,,,,,,chr6,36689030,36689030,A,C,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu373Leu/c.1119A>C|1021|RAB44|protein_coding|CODING|NM_001257357.1|9|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6953,0.5908,0.8111,,,,,,,,,,,,,,,,,,,
synonymous_variant,RAB44,SILENT,NM_001257357.1:p.Ala573Ala/c.1719C>T,gcC/gcT,LOW,,0.433307,0.4812,rs236477,,,,,,chr6,36689630,36689630,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala573Ala/c.1719C>T|1021|RAB44|protein_coding|CODING|NM_001257357.1|9|1),"GM12878:H3K36me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.4908,0.3948,0.6322,,,,,,,,,,,,,,,,,,,
synonymous_variant,RAB44,SILENT,NM_001257357.1:p.Arg684Arg/c.2050A>C,Aga/Cga,LOW,,0.858826,0.8185,rs183541,,,,,,chr6,36689961,36689961,A,C,hom,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg684Arg/c.2050A>C|1021|RAB44|protein_coding|CODING|NM_001257357.1|9|1),"GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8415,0.6556,0.8847,,,,,,,,,,,,,,,,,,,
synonymous_variant,CPNE5,SILENT,NM_020939.1:p.Cys410Cys/c.1230T>C,tgT/tgC,LOW,COSM4161125(1),0.801318,0.8373,rs763046,,,,,,chr6,36713263,36713263,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys410Cys/c.1230T>C|593|CPNE5|protein_coding|CODING|NM_020939.1|17|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7556,0.6196,0.841,0.84,0.87,0.82,,,,,,,,,,,,,,,,
synonymous_variant,CPNE5,SILENT,NM_020939.1:p.Tyr253Tyr/c.759C>T,taC/taT,LOW,COSM3762019(2),0.541933,0.619,rs763048,,,,,,chr6,36733132,36733132,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr253Tyr/c.759C>T|593|CPNE5|protein_coding|CODING|NM_020939.1|11|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5879,0.5821,0.6233,0.56,0.39,0.65,,,,,,,,,,,,,,,,
synonymous_variant,PPIL1,SILENT,NM_016059.4:p.Gln81Gln/c.243G>A,caG/caA,LOW,,0.182508,0.3542,rs2071823,,,,,,chr6,36824399,36824399,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln81Gln/c.243G>A|166|PPIL1|protein_coding|CODING|NM_016059.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1472,0.2233,0.2386,0.19,0.06,0.25,,,,,,,,,,,,,,,,
missense_variant,PI16,MISSENSE,NM_153370.2:p.Thr50Pro/c.148A>C,Acg/Ccg,MODERATE,,0.544129,0.4841,rs1405069,1(T),"0.001,0.0(B,B)",-1.555(N),-0.9266(T),,chr6,36922684,36922684,A,C,hom,"missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr50Pro/c.148A>C|463|PI16|protein_coding|CODING|NM_153370.2|1|1),missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr50Pro/c.148A>C|463|PI16|protein_coding|CODING|NM_001199159.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,CD4:H3K4me1,HepG2:H3K27me3",Chemerin_levels,,,0.3998,0.5692,0.4513,0.53,0.69,0.45,,0.049395(N),1.000(P),3.35(T),0.0012(T),0.121,-2.053793,5.51,3.71,-0.323000,0.291000,0.522000,0.089000,0.003000,0.001000,5.8977
synonymous_variant,PI16,SILENT,NM_001199159.1:p.Glu348Glu/c.1044A>G,gaA/gaG,LOW,COSM1131883(2),0.598442,0.4871,rs2296934,,,,,,chr6,36931162,36931162,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu348Glu/c.1044A>G|463|PI16|protein_coding|CODING|NM_001199159.1|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu348Glu/c.1044A>G|463|PI16|protein_coding|CODING|NM_153370.2|5|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,CD4:H4K8ac,H1ESC:DNase1,CD4:H3K27ac,CD4:H3K36ac,CD4:H3K4me1,CD4:H4K5ac,HepG2:H3K27me3",,,,0.5736,0.7205,0.6143,0.60,0.61,0.60,,,,,,,,,,,,,,,,
synonymous_variant,MTCH1,SILENT,NM_001271641.1:p.Ser384Ser/c.1152A>G,tcA/tcG,LOW,,0.0948482,0.0317,rs11548576,0.28(T),,,-1.0540(T),,chr6,36936697,36936697,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser384Ser/c.1152A>G|389|MTCH1|protein_coding|CODING|NM_001271641.1|12|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser367Ser/c.1101A>G|372|MTCH1|protein_coding|CODING|NM_014341.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.0735,0.0537,0.08,0.14,0.05,,,0.000(P),,0.0286(T),.,0.028689,5.16,-10.3,-0.290000,-2.565000,-2.983000,0.995000,0.369000,0.000000,9.4402
synonymous_variant,TBC1D22B,SILENT,NM_017772.2:p.Gln191Gln/c.573A>G,caA/caG,LOW,,0.924521,0.9018,rs195753,,,,,,chr6,37250112,37250112,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln191Gln/c.573A>G|505|TBC1D22B|protein_coding|CODING|NM_017772.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9059,0.9121,0.8857,0.91,0.97,0.88,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D22B,SILENT,NM_017772.2:p.Asn257Asn/c.771C>T,aaC/aaT,LOW,,0.697284,0.8462,rs3818136,,,,,,chr6,37252210,37252210,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn257Asn/c.771C>T|505|TBC1D22B|protein_coding|CODING|NM_017772.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7679,0.6787,0.6551,0.63,0.58,0.66,,,,,,,,,,,,,,,,
synonymous_variant,RNF8,SILENT,NM_003958.3:p.Thr448Thr/c.1344G>A,acG/acA,LOW,,0.560304,0.7361,rs2284922,,,,,,chr6,37349033,37349033,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr448Thr/c.1344G>A|485|RNF8|protein_coding|CODING|NM_003958.3|7|1),intron_variant(MODIFIER|||c.1236+4224G>A|448|RNF8|protein_coding|CODING|NM_183078.2|6|1),non_coding_exon_variant(MODIFIER|||n.1643G>A||RNF8||CODING|NR_046399.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5971,0.549,0.3588,0.40,0.52,0.35,,,,,,,,,,,,,,,,
synonymous_variant,MDGA1,SILENT,NM_153487.3:p.Pro163Pro/c.489G>A,ccG/ccA,LOW,COSM1444170(1),0.63738,0.8313,rs3846874,,,,,,chr6,37623566,37623566,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro163Pro/c.489G>A|955|MDGA1|protein_coding|CODING|NM_153487.3|4|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.7546,0.7017,0.6561,0.58,0.44,0.64,,,,,,,,,,,,,,,,
missense_variant,GLO1,MISSENSE,NM_006708.2:p.Glu111Ala/c.332A>C,gAg/gCg,MODERATE,,0.28734,0.1002,rs386572987,0.41(T),0.002(B),0.515(N),-1.0489(T),,chr6,38650628,38650628,T,G,hom,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu111Ala/c.332A>C|184|GLO1|protein_coding|CODING|NM_006708.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000017412.1,,0.2434,0.3818,0.4185,0.41,0.35,0.44,,0.000147(N),0.000(P),1.68(T),0.0174(T),0.107,1.659204,5.95,3.5,0.533000,0.518000,4.247000,0.991000,0.942000,1.000000,14.9417
missense_variant,DNAH8,MISSENSE,NM_001206927.1:p.Ile790Val/c.2368A>G,Atc/Gtc,MODERATE,COSM3762030(1),0.18131,0.37,rs3823430,0.8(T),0.001(B),-0.44(N),-0.9935(T),,chr6,38750888,38750888,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile790Val/c.2368A>G|4707|DNAH8|protein_coding|CODING|NM_001206927.1|17|1),"HeLa-S3:H3K27me3,K562:DNase1",,,,0.1769,0.1585,0.1093,0.12,0.09,0.14,,0.500051(N),0.995(P),"0.55,0.55,0.55(T,T,T)",0.0169(T),0.028,0.130510,5.83,1.44,-0.408000,-0.050000,0.254000,0.605000,0.996000,0.995000,4.3906
missense_variant,DNAH8,MISSENSE,NM_001206927.1:p.Gly1024Glu/c.3071G>A,gGa/gAa,MODERATE,COSM3762035(1),0.47504,0.6994,rs874808,1(T),0.0(B),0.69(N),-0.9791(T),,chr6,38773293,38773293,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly1024Glu/c.3071G>A|4707|DNAH8|protein_coding|CODING|NM_001206927.1|23|1),"NH-A:H3K27me3,HUVEC:DNase1",,,,0.4673,0.5821,0.3817,0.40,0.34,0.44,,0.087901(N),1.000(P),"1.96,1.94,1.91(T,T,T)",0.0111(T),0.045,-0.459527,5.45,4.22,-0.254000,1.018000,2.661000,0.750000,0.969000,0.994000,7.0813
synonymous_variant,DNAH8,SILENT,NM_001206927.1:p.Ser1098Ser/c.3294C>G,tcC/tcG,LOW,COSM1131871(2),0.501198,0.7946,rs1678690,,,,,,chr6,38781866,38781866,C,G,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser1098Ser/c.3294C>G|4707|DNAH8|protein_coding|CODING|NM_001206927.1|25|1),,,,,0.5204,0.5908,0.3748,0.40,0.34,0.43,,,,,,,,,,,,,,,,
missense_variant,DNAH8,MISSENSE,NM_001206927.1:p.Glu1419Lys/c.4255G>A,Gaa/Aaa,MODERATE,COSM150078(1),0.182308,0.3423,rs9357283,0.69(T),0.002(B),0.91(L),-1.0199(T),,chr6,38800164,38800164,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu1419Lys/c.4255G>A|4707|DNAH8|protein_coding|CODING|NM_001206927.1|31|1),,,,,0.1687,0.1556,0.1074,0.14,0.14,0.14,,0.002816(N),0.247(P),"1.83,1.82,1.77(T,T,T)",0.0158(T),0.101,0.765224,5.41,4.53,0.563000,1.261000,2.663000,0.627000,1.000000,1.000000,10.1478
synonymous_variant,DNAH8,SILENT,NM_001206927.1:p.His1923His/c.5769C>T,caC/caT,LOW,COSM451394(3),0.484225,0.6944,rs2061907,,,,,,chr6,38825329,38825329,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His1923His/c.5769C>T|4707|DNAH8|protein_coding|CODING|NM_001206927.1|42|1),"HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.4673,0.6037,0.3767,0.40,0.36,0.43,,,,,,,,,,,,,,,,
synonymous_variant,DNAH8,SILENT,NM_001206927.1:p.Lys2523Lys/c.7569G>A,aaG/aaA,LOW,,0.533347,0.8333,rs9380795,,,,,,chr6,38841101,38841101,G,A,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys2523Lys/c.7569G>A|4707|DNAH8|protein_coding|CODING|NM_001206927.1|52|1),,,,,0.5624,0.6138,0.3767,0.40,0.36,0.43,,,,,,,,,,,,,,,,
synonymous_variant,DNAH8,SILENT,NM_001206927.1:p.Val2560Val/c.7680C>T,gtC/gtT,LOW,COSM3762042(1),0.534345,0.8333,rs6458080,,,,,,chr6,38843426,38843426,C,T,hom,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val2560Val/c.7680C>T|4707|DNAH8|protein_coding|CODING|NM_001206927.1|53|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.5624,0.6138,0.3767,0.41,0.36,0.43,,,,,,,,,,,,,,,,
synonymous_variant,DNAH8,SILENT,NM_001206927.1:p.Tyr2718Tyr/c.8154C>T,taC/taT,LOW,,0.24361,0.3512,rs4714192,,,,,,chr6,38851669,38851669,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2718Tyr/c.8154C>T|4707|DNAH8|protein_coding|CODING|NM_001206927.1|56|1),,,,,0.3405,0.2262,0.1978,0.21,0.15,0.24,,,,,,,,,,,,,,,,
synonymous_variant,DNAH8,SILENT,NM_001206927.1:p.Leu4373Leu/c.13119A>G,ttA/ttG,LOW,COSM1180053(3),0.328674,0.252,rs3737094,,,,,,chr6,38957853,38957853,A,G,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu4373Leu/c.13119A>G|4707|DNAH8|protein_coding|CODING|NM_001206927.1|88|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.3006,0.3429,0.4443,0.41,0.33,0.45,,,,,,,,,,,,,,,,
missense_variant,GLP1R,MISSENSE,NM_002062.3:p.Pro7Leu/c.20C>T,cCg/cTg,MODERATE,COSM4161141(1),0.186102,0.1369,rs10305420,0.8(T),0.001(B),0.895(L),-1.0392(T),,chr6,39016636,39016636,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro7Leu/c.20C>T|463|GLP1R|protein_coding|CODING|NM_002062.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1738,0.2695,0.3877,0.23,0.06,0.31,,0.747451(N),1.000(P),0.79(T),0.0267(T),0.075,-0.433185,3.68,1.31,0.313000,-0.087000,-0.330000,0.506000,0.044000,0.005000,5.2043
synonymous_variant,GLP1R,SILENT,NM_002062.3:p.Glu133Glu/c.399A>G,gaA/gaG,LOW,COSM4161142(1),0.991214,1,rs6918287,,,,,,chr6,39033602,39033602,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu133Glu/c.399A>G|463|GLP1R|protein_coding|CODING|NM_002062.3|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9734,0.9928,0.9871,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,GLP1R,MISSENSE,NM_002062.3:p.Gly168Ser/c.502G>A,Ggc/Agc,MODERATE,COSM3762054(1),0.120807,0.0069,rs6923761,0.42(T),0.009(B),0.1(N),-0.9697(T),,chr6,39034072,39034072,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly168Ser/c.502G>A|463|GLP1R|protein_coding|CODING|NM_002062.3|5|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.1268,0.1729,0.333,0.24,0.07,0.34,,0.892596(N),1.000(P),1.29(T),0.0153(T),0.045,0.296605,4.95,-2.09,0.650000,-0.385000,0.342000,0.505000,0.040000,0.061000,7.5642
synonymous_variant,GLP1R,SILENT,NM_002062.3:p.Arg176Arg/c.526A>C,Agg/Cgg,LOW,COSM150087(3),0.445288,0.4444,rs2235868,,,,,,chr6,39040654,39040654,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg176Arg/c.526A>C|463|GLP1R|protein_coding|CODING|NM_002062.3|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4806,0.536,0.5209,0.46,0.35,0.52,,,,,,,,,,,,,,,,
missense_variant,GLP1R,MISSENSE,NM_002062.3:p.Leu260Phe/c.780A>C,ttA/ttC,MODERATE,,0.578474,0.5506,rs1042044,1(T),0.006(B),-1.655(N),-0.9458(T),,chr6,39041502,39041502,A,C,het,missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu260Phe/c.780A>C|463|GLP1R|protein_coding|CODING|NM_002062.3|7|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5992,0.5937,0.5626,0.57,0.58,0.56,,0.000106(N),1.000(P),1.0(T),0.0075(T),0.086,-0.945358,5.66,3.88,-0.121000,0.766000,0.906000,0.378000,0.967000,1.000000,6.3679
synonymous_variant,GLP1R,SILENT,NM_002062.3:p.Ile400Ile/c.1200A>C,atA/atC,LOW,,0.491014,0.4593,rs1126476,,,,,,chr6,39048491,39048491,A,C,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile400Ile/c.1200A>C|463|GLP1R|protein_coding|CODING|NM_002062.3|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4847,0.5375,0.504,0.51,0.52,0.51,,,,,,,,,,,,,,,,
missense_variant,KCNK17,MISSENSE,NM_031460.3:p.Ser21Gly/c.61A>G,Agc/Ggc,MODERATE,COSM4161144(1),0.582468,0.4673,rs10947804,0.42(T),"0.001,0.001(B,B)",0.46(N),-1.0689(T),,chr6,39282036,39282036,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser21Gly/c.61A>G|332|KCNK17|protein_coding|CODING|NM_031460.3|1|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser21Gly/c.61A>G|271|KCNK17|protein_coding|CODING|NM_001135111.1|1|1),downstream_gene_variant(MODIFIER||438||322|KCNK16|protein_coding|CODING|NM_001135105.1||1),downstream_gene_variant(MODIFIER||438||262|KCNK16|protein_coding|CODING|NM_001135107.1||1),downstream_gene_variant(MODIFIER||438||309|KCNK16|protein_coding|CODING|NM_032115.3||1),downstream_gene_variant(MODIFIER||1911||294|KCNK16|protein_coding|CODING|NM_001135106.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4816,0.4553,0.4851,0.65,0.85,0.55,,0.395947(N),1.000(P),"0.44,0.44(T,T)",0.0343(T),0.007,0.762256,4.06,2.09,0.459000,0.383000,-0.229000,0.032000,0.003000,0.000000,5.3388
missense_variant,KCNK16,MISSENSE,NM_032115.3:p.Pro301His/c.902C>A,cCc/cAc,MODERATE,COSM3762055(1),0.584265,0.4663,rs11756091,0.03(D),"0.001,0.0(B,B)",0.695(N),-0.9840(T),,chr6,39282806,39282806,G,T,hom,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro254His/c.761C>A|262|KCNK16|protein_coding|CODING|NM_001135107.1|5|1),missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro301His/c.902C>A|309|KCNK16|protein_coding|CODING|NM_032115.3|6|1),3_prime_UTR_variant(MODIFIER||94|c.*94C>A|322|KCNK16|protein_coding|CODING|NM_001135105.1|5|1),upstream_gene_variant(MODIFIER||570||332|KCNK17|protein_coding|CODING|NM_031460.3||1),upstream_gene_variant(MODIFIER||569||271|KCNK17|protein_coding|CODING|NM_001135111.1||1),downstream_gene_variant(MODIFIER||1141||294|KCNK16|protein_coding|CODING|NM_001135106.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4826,0.4597,0.4911,0.61,0.83,0.50,,0.000000(N),1.000(P),"2.45,1.98,2.61(T,T,T)",0.0124(T),0.027,0.602823,2.67,0.0928,-0.373000,0.017000,-0.535000,0.083000,0.000000,0.000000,2.6835
synonymous_variant,KCNK16,SILENT,NM_001135105.1:p.Asn262Asn/c.786C>T,aaC/aaT,LOW,COSM3762056(1),0.582268,0.4663,rs11753141,,,,,,chr6,39283083,39283083,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn262Asn/c.786C>T|322|KCNK16|protein_coding|CODING|NM_001135105.1|5|1),upstream_gene_variant(MODIFIER||847||332|KCNK17|protein_coding|CODING|NM_031460.3||1),upstream_gene_variant(MODIFIER||846||271|KCNK17|protein_coding|CODING|NM_001135111.1||1),downstream_gene_variant(MODIFIER||864||294|KCNK16|protein_coding|CODING|NM_001135106.1||1),intron_variant(MODIFIER|||c.803-178C>T|309|KCNK16|protein_coding|CODING|NM_032115.3|5|1),intron_variant(MODIFIER|||c.662-178C>T|262|KCNK16|protein_coding|CODING|NM_001135107.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4836,0.4582,0.4911,0.60,0.82,0.50,,,,,,,,,,,,,,,,
missense_variant,KCNK16,MISSENSE,NM_001135106.1:p.Ala277Glu/c.830C>A,gCa/gAa,MODERATE,COSM3762057(1),0.588858,0.4673,rs1535500,0.17(T),0.035(B),0.345(N),-0.9655(T),,chr6,39284050,39284050,G,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala277Glu/c.830C>A|294|KCNK16|protein_coding|CODING|NM_001135106.1|5|1),upstream_gene_variant(MODIFIER||1814||332|KCNK17|protein_coding|CODING|NM_031460.3||1),upstream_gene_variant(MODIFIER||1813||271|KCNK17|protein_coding|CODING|NM_001135111.1||1),intron_variant(MODIFIER|||c.802+28C>A|309|KCNK16|protein_coding|CODING|NM_032115.3|5|1),intron_variant(MODIFIER|||c.661+508C>A|262|KCNK16|protein_coding|CODING|NM_001135107.1|4|1),intron_variant(MODIFIER|||c.661+508C>A|322|KCNK16|protein_coding|CODING|NM_001135105.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",Type_2_diabetes,,,0.4836,0.4597,0.493,0.61,0.83,0.50,,,1.000(P),2.28(T),0.0097(T),0.025,1.230032,4.87,1.93,-0.368000,0.593000,-0.379000,0.008000,0.001000,0.000000,8.7639
synonymous_variant,KCNK16,SILENT,NM_032115.3:p.Tyr232Tyr/c.696T>C,taT/taC,LOW,,0.603435,0.4673,rs3734618,,,,,,chr6,39284184,39284184,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr232Tyr/c.696T>C|294|KCNK16|protein_coding|CODING|NM_001135106.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr232Tyr/c.696T>C|309|KCNK16|protein_coding|CODING|NM_032115.3|5|1),upstream_gene_variant(MODIFIER||1948||332|KCNK17|protein_coding|CODING|NM_031460.3||1),upstream_gene_variant(MODIFIER||1947||271|KCNK17|protein_coding|CODING|NM_001135111.1||1),intron_variant(MODIFIER|||c.661+374T>C|262|KCNK16|protein_coding|CODING|NM_001135107.1|4|1),intron_variant(MODIFIER|||c.661+374T>C|322|KCNK16|protein_coding|CODING|NM_001135105.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4836,0.4683,0.493,0.63,0.89,0.50,,,,,,,,,,,,,,,,
synonymous_variant,KCNK16,SILENT,NM_001135105.1:p.Ala39Ala/c.117G>A,gcG/gcA,LOW,COSM3762060(1),0.386182,0.3681,rs3734619,,,,,,chr6,39290200,39290200,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala39Ala/c.117G>A|322|KCNK16|protein_coding|CODING|NM_001135105.1|1|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala39Ala/c.117G>A|294|KCNK16|protein_coding|CODING|NM_001135106.1|1|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala39Ala/c.117G>A|262|KCNK16|protein_coding|CODING|NM_001135107.1|1|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala39Ala/c.117G>A|309|KCNK16|protein_coding|CODING|NM_032115.3|1|1)","GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2096,0.4049,0.3628,0.42,0.49,0.38,,,,,,,,,,,,,,,,
missense_variant,KIF6,MISSENSE,NM_145027.4:p.Trp719Arg/c.2155T>C,Tgg/Cgg,MODERATE,COSM150088(1),0.539736,0.5238,rs20455,0.65(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.895(N),-1.0605(T),,chr6,39325078,39325078,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp702Arg/c.2104T>C|797|KIF6|protein_coding|CODING|NM_001289020.1|18|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp663Arg/c.1987T>C|758|KIF6|protein_coding|CODING|NM_001289021.1|18|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp170Arg/c.508T>C|265|KIF6|protein_coding|CODING|NM_001289024.1|6|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp719Arg/c.2155T>C|814|KIF6|protein_coding|CODING|NM_145027.4|19|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.4591,0.3343,0.3628,0.50,0.78,0.36,,,1.000(P),"-0.39,1.63,-0.43,-0.21,1.71,-0.4,-0.45,1.68(T,T,T,T,T,T,T,T)",0.0230(T),0.27,-1.018519,4.56,0.525,-0.735000,-0.250000,0.021000,0.000000,0.000000,0.000000,0.7034
synonymous_variant,LRFN2,SILENT,NM_020737.1:p.Ile529Ile/c.1587T>C,atT/atC,LOW,COSM4006499(1),0.603035,0.5278,rs3734557,,,,,,chr6,40360465,40360465,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile529Ile/c.1587T>C|789|LRFN2|protein_coding|CODING|NM_020737.1|3|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7597,0.3905,0.5835,0.61,0.65,0.58,,,,,,,,,,,,,,,,
synonymous_variant,UNC5CL,SILENT,NM_173561.2:p.Cys440Cys/c.1320C>T,tgC/tgT,LOW,COSM3762061(3),0.276558,0.2778,rs736795,,,,,,chr6,40998141,40998141,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys440Cys/c.1320C>T|518|UNC5CL|protein_coding|CODING|NM_173561.2|8|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.41,0.268,0.2038,0.24,0.23,0.24,,,,,,,,,,,,,,,,
synonymous_variant,APOBEC2,SILENT,NM_006789.3:p.Asn58Asn/c.174T>C,aaT/aaC,LOW,COSM3762063(3),0.184305,0.2669,rs2073014,,,,,,chr6,41029109,41029109,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn58Asn/c.174T>C|224|APOBEC2|protein_coding|CODING|NM_006789.3|2|1),"GM12878:H3K36me3,K562:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2873,0.2305,0.168,0.16,0.07,0.20,,,,,,,,,,,,,,,,
missense_variant,APOBEC2,MISSENSE,NM_006789.3:p.Ile136Thr/c.407T>C,aTc/aCc,MODERATE,COSM3762064(4),0.177316,0.2679,rs2076472,0.06(T),0.002(B),0(N),-1.0579(T),,chr6,41029342,41029342,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile136Thr/c.407T>C|224|APOBEC2|protein_coding|CODING|NM_006789.3|2|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.2277,0.168,0.15,0.04,0.20,,0.213828(N),1.000(P),0.79(T),0.0252(T),0.071,1.062585,5.54,1.37,-1.125000,0.320000,0.274000,0.788000,0.530000,0.000000,5.8748
missense_variant,TREML2,MISSENSE,NM_024807.3:p.Val25Ala/c.74T>C,gTa/gCa,MODERATE,,0.0826677,0.0843,rs62396355,0.45(T),0.016(B),1.59(L),-0.9271(T),,chr6,41166149,41166149,A,G,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val25Ala/c.74T>C|321|TREML2|protein_coding|CODING|NM_024807.3|2|1),"CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1472,0.0793,0.1173,0.04,0.01,0.05,,0.745132(N),1.000(P),3.15(T),0.0063(T),0.008,0.662289,4.75,-4.27,-1.098000,-1.053000,0.184000,0.012000,0.003000,0.001000,6.3814
synonymous_variant,TREML2,SILENT,NM_024807.3:p.Ser24Ser/c.72T>C,agT/agC,LOW,,0.0824681,0.0833,rs61998254,,,,,,chr6,41166151,41166151,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser24Ser/c.72T>C|321|TREML2|protein_coding|CODING|NM_024807.3|2|1),"CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1472,0.0793,0.1173,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,TREML2,MISSENSE,NM_024807.3:p.Asp23Glu/c.69C>G,gaC/gaG,MODERATE,,0.0840655,0.0843,rs77704965,1(T),0.001(B),-1.955(N),-0.9333(T),,chr6,41166154,41166154,G,C,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp23Glu/c.69C>G|321|TREML2|protein_coding|CODING|NM_024807.3|2|1),"CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1544,0.0793,0.1173,0.00,0.00,0.00,,0.046784(N),1.000(N),3.7(T),0.0010(T),0.005,-1.332462,4.55,3.67,-0.256000,1.034000,0.365000,0.004000,0.001000,0.001000,10.9551
missense_variant,TREML2,MISSENSE,NM_024807.3:p.Asp23Gly/c.68A>G,gAc/gGc,MODERATE,,0.0840655,0.0843,rs41273772,0.27(T),0.233(B),-0.205(N),-0.9344(T),,chr6,41166155,41166155,T,C,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp23Gly/c.68A>G|321|TREML2|protein_coding|CODING|NM_024807.3|2|1),"CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1544,0.0793,0.1173,0.00,0.00,0.00,,0.046784(N),1.000(N),3.42(T),0.0025(T),0.066,1.628873,4.75,0.881,0.460000,-0.020000,0.851000,0.005000,0.000000,0.002000,3.2127
missense_variant,TREML4,MISSENSE,NM_198153.2:p.Trp73Arg/c.217T>C,Tgg/Cgg,MODERATE,,0.690495,0.8383,rs9369265,1(T),0.007(B),-1.625(N),-0.9614(T),,chr6,41196605,41196605,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp73Arg/c.217T>C|200|TREML4|protein_coding|CODING|NM_198153.2|2|1),"CD4:DNase1,K562:CTCF,GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.727,0.8141,0.7734,0.69,0.49,0.79,,,1.000(P),"3.78,3.78(T,T)",0.0008(T),0.008,-1.792391,4.06,-0.497,-0.880000,-0.463000,-3.954000,0.005000,0.000000,0.000000,3.9934
synonymous_variant,TREML4,SILENT,NM_198153.2:p.Asn113Asn/c.339C>T,aaC/aaT,LOW,,0.691294,0.8383,rs2101269,,,,,,chr6,41196727,41196727,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn113Asn/c.339C>T|200|TREML4|protein_coding|CODING|NM_198153.2|2|1),"CD4:DNase1,K562:CTCF,GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:CTCF",,,,0.727,0.8141,0.7734,0.69,0.49,0.79,,,,,,,,,,,,,,,,
missense_variant,TREML4,MISSENSE,NM_198153.2:p.Thr168Ile/c.503C>T,aCc/aTc,MODERATE,,0.690695,0.8393,rs7769759,0.31(T),0.003(B),0.55(N),-0.9063(T),,chr6,41197857,41197857,C,T,hom,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr168Ile/c.503C>T|200|TREML4|protein_coding|CODING|NM_198153.2|4|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.727,0.8141,0.7734,0.69,0.49,0.79,,,1.000(P),"3.24,3.24(T,T)",0.0037(T),0.457,0.906053,3.27,-2.09,0.591000,-0.405000,-0.289000,0.077000,0.007000,0.002000,1.6642
missense_variant,NCR2,MISSENSE,NM_004828.3:p.Ser139Pro/c.415T>C,Tcc/Ccc,MODERATE,COSM1444483(1),0.489617,0.5764,rs2236369,0.44(T),"0.178,0.093,0.062(B,B,B)",0.345(N),-0.9380(T),,chr6,41309552,41309552,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser139Pro/c.415T>C|270|NCR2|protein_coding|CODING|NM_001199509.1|3|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser139Pro/c.415T>C|258|NCR2|protein_coding|CODING|NM_001199510.1|3|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser139Pro/c.415T>C|276|NCR2|protein_coding|CODING|NM_004828.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5767,0.6787,0.5885,0.48,0.24,0.59,,,1.000(P),"2.53,2.7,2.48(T,T,T)",0.0051(T),0.031,0.431064,1.69,-1.52,-0.878000,-0.289000,-0.192000,0.212000,0.214000,0.005000,2.3519
missense_variant,NCR2,MISSENSE,NM_004828.3:p.Gly161Arg/c.481G>A,Gga/Aga,MODERATE,,0.00259585,0,rs34456049,0.67(T),"0.0,0.015,0.002(B,B,B)",0.145(N),-0.9082(T),,chr6,41309618,41309618,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly161Arg/c.481G>A|270|NCR2|protein_coding|CODING|NM_001199509.1|3|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly161Arg/c.481G>A|258|NCR2|protein_coding|CODING|NM_001199510.1|3|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly161Arg/c.481G>A|276|NCR2|protein_coding|CODING|NM_004828.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.002,0.0014,0.0099,0.01,0.00,0.01,,,1.000(N),"2.58,2.73,2.47(T,T,T)",0.0055(T),0.037,-0.888911,2.02,1.05,0.467000,0.338000,-0.266000,0.011000,0.023000,0.000000,3.7194
missense_variant,NCR2,MISSENSE,NM_004828.3:p.Met223Val/c.667A>G,Atg/Gtg,MODERATE,,0.726837,0.8611,rs2273962,1(T),0.001(B),,-0.9122(T),,chr6,41318438,41318438,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met223Val/c.667A>G|276|NCR2|protein_coding|CODING|NM_004828.3|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro270Pro/c.810A>G|270|NCR2|protein_coding|CODING|NM_001199509.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro258Pro/c.774A>G|258|NCR2|protein_coding|CODING|NM_001199510.1|6|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7546,0.8674,0.7734,0.70,0.55,0.77,,,1.000(P),2.72(T),0.0036(T),0.035,-0.580702,2.04,0.251,-0.728000,0.044000,-0.093000,0.003000,0.001000,0.000000,4.4991
synonymous_variant,FOXP4,SILENT,NM_001012426.1:p.Ala27Ala/c.81C>A,gcC/gcA,LOW,COSM451441(3),0.387181,0.3393,rs2104506,,,,,,chr6,41533579,41533579,C,A,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala27Ala/c.81C>A|680|FOXP4|protein_coding|CODING|NM_001012426.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala27Ala/c.81C>A|678|FOXP4|protein_coding|CODING|NM_001012427.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala27Ala/c.81C>A|667|FOXP4|protein_coding|CODING|NM_138457.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3446,0.4049,0.3022,0.33,0.46,0.27,,,,,,,,,,,,,,,,
synonymous_variant,TFEB,SILENT,NM_001167827.2:p.Ala432Ala/c.1296G>A,gcG/gcA,LOW,COSM3762073(1),0.197484,0.3194,rs2073158,,,,,,chr6,41652514,41652514,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala432Ala/c.1296G>A|490|TFEB|protein_coding|CODING|NM_001167827.2|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala333Ala/c.999G>A|391|TFEB|protein_coding|CODING|NM_001271943.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala418Ala/c.1254G>A|476|TFEB|protein_coding|CODING|NM_001271944.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala418Ala/c.1254G>A|476|TFEB|protein_coding|CODING|NM_001271945.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala418Ala/c.1254G>A|476|TFEB|protein_coding|CODING|NM_007162.2|10|1)","GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2454,0.183,0.1998,0.16,0.09,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TFEB,SILENT,NM_001167827.2:p.Pro402Pro/c.1206A>G,ccA/ccG,LOW,COSM451444(3),0.764177,0.7778,rs1062966,,,,,,chr6,41652604,41652604,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro402Pro/c.1206A>G|490|TFEB|protein_coding|CODING|NM_001167827.2|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro303Pro/c.909A>G|391|TFEB|protein_coding|CODING|NM_001271943.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro388Pro/c.1164A>G|476|TFEB|protein_coding|CODING|NM_001271944.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro388Pro/c.1164A>G|476|TFEB|protein_coding|CODING|NM_001271945.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro388Pro/c.1164A>G|476|TFEB|protein_coding|CODING|NM_007162.2|10|1)","GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7566,0.6729,0.7028,0.76,0.83,0.72,,,,,,,,,,,,,,,,
synonymous_variant,TFEB,SILENT,NM_001167827.2:p.Gly115Gly/c.345G>A,ggG/ggA,LOW,COSM3762074(2),0.110224,0.1488,rs2273068,,,,,,chr6,41658566,41658566,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly115Gly/c.345G>A|490|TFEB|protein_coding|CODING|NM_001167827.2|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly101Gly/c.303G>A|476|TFEB|protein_coding|CODING|NM_001271944.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly101Gly/c.303G>A|476|TFEB|protein_coding|CODING|NM_001271945.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly101Gly/c.303G>A|476|TFEB|protein_coding|CODING|NM_007162.2|4|1),intron_variant(MODIFIER|||c.213+173G>A|391|TFEB|protein_coding|CODING|NM_001271943.1|2|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1145,0.085,0.1521,0.12,0.09,0.14,,,,,,,,,,,,,,,,
synonymous_variant,TFEB,SILENT,NM_001167827.2:p.Gln35Gln/c.105G>A,caG/caA,LOW,COSM1568356(3),0.461861,0.4355,rs1015149,,,,,,chr6,41658889,41658889,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln35Gln/c.105G>A|490|TFEB|protein_coding|CODING|NM_001167827.2|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln21Gln/c.63G>A|391|TFEB|protein_coding|CODING|NM_001271943.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln21Gln/c.63G>A|476|TFEB|protein_coding|CODING|NM_001271944.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln21Gln/c.63G>A|476|TFEB|protein_coding|CODING|NM_001271945.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln21Gln/c.63G>A|476|TFEB|protein_coding|CODING|NM_007162.2|3|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3405,0.4496,0.4722,0.51,0.56,0.48,,,,,,,,,,,,,,,,
missense_variant,PGC,MISSENSE,NM_001166424.1:p.Gln241His/c.723G>C,caG/caC,MODERATE,COSM3830498(2),0.211861,0.254,rs4711690,0.02(D),,,-0.9829(T),,chr6,41708938,41708938,C,G,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln241His/c.723G>C|315|PGC|protein_coding|CODING|NM_001166424.1|7|1),intron_variant(MODIFIER|||c.648-590G>C|388|PGC|protein_coding|CODING|NM_002630.3|5|1)","HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27ac,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:FOXA1",,,,0.1237,0.2853,0.1282,,,,,,1.000(P),0.14(T),0.0641(T),0.047,1.548399,2.66,-2.47,0.561000,-0.586000,-0.514000,0.417000,0.000000,0.000000,1.0076
synonymous_variant,USP49,SILENT,NM_001286554.1:p.Leu382Leu/c.1146C>G,ctC/ctG,LOW,COSM4161174(1),0.549121,0.5407,rs2185798,,,,,,chr6,41773576,41773576,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu382Leu/c.1146C>G|688|USP49|protein_coding|CODING|NM_001286554.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu382Leu/c.1146C>G|640|USP49|protein_coding|CODING|NM_018561.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5675,0.6801,0.4911,0.50,0.53,0.48,,,,,,,,,,,,,,,,
synonymous_variant,USP49,SILENT,NM_001286554.1:p.Gly329Gly/c.987C>T,ggC/ggT,LOW,COSM4161177(2),0.208666,0.1567,rs6926173,,,,,,chr6,41773735,41773735,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly329Gly/c.987C>T|688|USP49|protein_coding|CODING|NM_001286554.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly329Gly/c.987C>T|640|USP49|protein_coding|CODING|NM_018561.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1472,0.1614,0.2326,0.25,0.28,0.24,,,,,,,,,,,,,,,,
missense_variant,USP49,MISSENSE,NM_001286554.1:p.Pro133Ser/c.397C>T,Cct/Tct,MODERATE,,,,,0.57(T),0.012(B),0(N),-0.9022(T),,chr6,41774325,41774325,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro133Ser/c.397C>T|688|USP49|protein_coding|CODING|NM_001286554.1|2|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro133Ser/c.397C>T|640|USP49|protein_coding|CODING|NM_018561.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.005458(N),0.944(N),"3.86,3.37,3.86,3.64,3.64(T,T,T,T,T)",0.0036(T),0.194,-0.017352,4.6,4.6,0.655000,2.376000,3.525000,0.997000,0.993000,1.000000,10.8255
missense_variant,BYSL,MISSENSE,NM_004053.3:p.Glu103Lys/c.307G>A,Gag/Aag,MODERATE,,0.0758786,0.1478,rs2296916,0.02(D),0.161(B),2.275(M),-1.0161(T),,chr6,41895150,41895150,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu103Lys/c.307G>A|437|BYSL|protein_coding|CODING|NM_004053.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1033,0.0389,0.0974,0.08,0.02,0.11,,0.000003(D),0.000(P),1.98(T),0.0347(T),0.244,5.361981,4.62,4.62,0.643000,2.124000,9.177000,0.880000,0.975000,1.000000,17.0716
missense_variant,BYSL,MISSENSE,NM_004053.3:p.Pro426Ser/c.1276C>T,Ccc/Tcc,MODERATE,COSM4004042(1),0.0954473,0.1478,rs3828855,1(T),0.006(B),-1.005(N),-0.9230(T),,chr6,41900406,41900406,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro426Ser/c.1276C>T|437|BYSL|protein_coding|CODING|NM_004053.3|7|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1043,0.0447,0.0974,0.10,0.08,0.11,,0.000268(D),0.853(P),1.13(T),0.0091(T),0.041,-1.575042,5.65,4.77,0.550000,2.664000,1.558000,0.020000,0.925000,0.954000,2.0737
missense_variant,CCND3,MISSENSE,NM_001760.4:p.Ser259Ala/c.775T>G,Tct/Gct,MODERATE,COSM451455(5),0.592452,0.504,rs1051130,0.04(D),,0.55(N),-0.9321(T),,chr6,41903782,41903782,A,C,het,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser178Ala/c.532T>G|211|CCND3|protein_coding|CODING|NM_001136017.3|5|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser187Ala/c.559T>G|220|CCND3|protein_coding|CODING|NM_001136125.2|4|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser63Ala/c.187T>G|96|CCND3|protein_coding|CODING|NM_001136126.2|4|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser209Ala/c.625T>G|242|CCND3|protein_coding|CODING|NM_001287427.1|5|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser63Ala/c.187T>G|96|CCND3|protein_coding|CODING|NM_001287434.1|5|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser259Ala/c.775T>G|292|CCND3|protein_coding|CODING|NM_001760.4|5|1)","H1ESC:H3K36me3,K562:PolII,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.4458,0.5058,0.5467,0.62,0.78,0.55,,,1.000(P),1.24(T),0.0098(T),0.042,-1.896571,5.47,0.192,-0.352000,-0.245000,0.467000,0.242000,0.012000,0.102000,8.2262
synonymous_variant,TAF8,SILENT,NM_138572.2:p.Arg296Arg/c.888G>A,cgG/cgA,LOW,COSM3762076(3),0.67492,0.8988,rs3800286,0(D),0.003(B),,-1.0078(T),,chr6,42044945,42044945,G,A,hom,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg296Arg/c.888G>A|310|TAF8|protein_coding|CODING|NM_138572.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.7291,0.6928,0.65,0.50,0.71,,,0.000(P),,0.0227(T),.,3.595707,5.85,-6.41,-0.345000,-1.955000,-0.539000,0.858000,0.055000,0.122000,3.1284
synonymous_variant,C6orf132,SILENT,NM_001164446.2:p.Gly887Gly/c.2661C>T,ggC/ggT,LOW,COSM4161184(1),0.217053,0.2232,rs9394863,,,,,,chr6,42072989,42072989,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly887Gly/c.2661C>T|1188|C6orf132|protein_coding|CODING|NM_001164446.2|4|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2607,0.1427,0.0567,0.12,0.29,0.05,,,,,,,,,,,,,,,,
missense_variant,C6orf132,MISSENSE,NM_001164446.2:p.Leu631Phe/c.1891C>T,Ctc/Ttc,MODERATE,,0.0119808,0,rs34879933,0.06(T),,0.695(N),-1.0160(T),,chr6,42073759,42073759,G,A,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu631Phe/c.1891C>T|1188|C6orf132|protein_coding|CODING|NM_001164446.2|4|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0276,0.0115,0.0229,0.02,0.00,0.03,,,1.000(N),0.96(T),0.0319(T),0.013,0.469100,3.56,0.752,0.655000,0.031000,0.575000,0.042000,0.053000,0.301000,5.49
synonymous_variant,C6orf132,SILENT,NM_001164446.2:p.Arg564Arg/c.1692G>A,cgG/cgA,LOW,COSN167770,0.218051,0.2232,rs9394865,,,,,,chr6,42073958,42073958,C,T,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg564Arg/c.1692G>A|1188|C6orf132|protein_coding|CODING|NM_001164446.2|4|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2648,0.1427,0.0567,,,,,,,,,,,,,,,,,,,
missense_variant,C6orf132,MISSENSE,NM_001164446.2:p.Leu515Pro/c.1544T>C,cTc/cCc,MODERATE,COSM4161186(1),0.535543,0.3065,rs9394866,1(T),,-0.55(N),-0.9667(T),,chr6,42074106,42074106,A,G,het,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu515Pro/c.1544T>C|1188|C6orf132|protein_coding|CODING|NM_001164446.2|4|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4744,0.415,0.4672,,,,,,1.000(P),1.69(T),0.0049(T),0.019,-3.146034,3.67,-0.684,-0.479000,-1.203000,0.184000,0.008000,0.000000,0.002000,4.1953
missense_variant,C6orf132,MISSENSE,NM_001164446.2:p.Leu194Ser/c.581T>C,tTg/tCg,MODERATE,COSM4161191(1),0.203075,0.2212,rs55772414,0.83(T),,0.55(N),-0.9990(T),,chr6,42075069,42075069,A,G,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu194Ser/c.581T>C|1188|C6orf132|protein_coding|CODING|NM_001164446.2|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2781,0.1311,0.0577,,,,,,1.000(P),0.95(T),0.0150(T),0.087,-1.141455,3.35,-1.78,-1.093000,-0.202000,0.418000,0.002000,0.000000,0.001000,3.0284
synonymous_variant,GUCA1B,SILENT,NM_002098.5:p.Tyr57Tyr/c.171T>C,taT/taC,LOW,COSM3762077(2),0.584864,0.8204,rs3749921,,,,,,chr6,42162388,42162388,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr57Tyr/c.171T>C|200|GUCA1B|protein_coding|CODING|NM_002098.5|1|1),"H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7679,0.6354,0.6372,0.51,0.31,0.62,,,,,,,,,,,,,,,,
synonymous_variant,UBR2,SILENT,NM_015255.2:p.Ser15Ser/c.45C>T,agC/agT,LOW,COSM3762078(3),0.467452,0.4464,rs3749897,,,,,,chr6,42532102,42532102,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser15Ser/c.45C>T|439|UBR2|protein_coding|CODING|NM_001184801.1|1|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser15Ser/c.45C>T|1755|UBR2|protein_coding|CODING|NM_015255.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.501,0.4179,0.4046,0.44,0.50,0.41,,,,,,,,,,,,,,,,
synonymous_variant,UBR2,SILENT,NM_015255.2:p.Leu437Leu/c.1311A>G,ttA/ttG,LOW,COSM4161198(1),0.937899,1,rs5014584,,,,,,chr6,42600319,42600319,A,G,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu437Leu/c.1311A>G|1755|UBR2|protein_coding|CODING|NM_015255.2|12|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8783,0.9222,0.8936,0.93,0.96,0.91,,,,,,,,,,,,,,,,
missense_variant,PRPH2,MISSENSE,NM_000322.4:p.Asp338Gly/c.1013A>G,gAc/gGc,MODERATE,COSM4161200(1),0.757388,0.8462,rs434102,0.21(T),,,-0.8841(T),,chr6,42666061,42666061,T,C,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp338Gly/c.1013A>G|346|PRPH2|protein_coding|CODING|NM_000322.4|3|1),"IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7188,0.7248,0.7982,0.78,0.73,0.80,,0.008995(N),0.382(P),4.07(T),0.0067(T),0.042,0.766750,5.44,4.28,0.533000,0.901000,1.262000,0.673000,0.021000,0.724000,7.5998
missense_variant,PRPH2,MISSENSE,NM_000322.4:p.Arg310Lys/c.929G>A,aGg/aAg,MODERATE,,0.941294,1,rs425876,1(T),,,-0.9649(T),,chr6,42666145,42666145,C,T,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg310Lys/c.929G>A|346|PRPH2|protein_coding|CODING|NM_000322.4|3|1),"IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8783,0.9164,0.8867,0.93,0.98,0.91,,0.000007(N),1.000(P),4.33(T),0.0019(T),0.008,0.915600,5.44,5.44,-0.254000,0.903000,2.860000,0.825000,1.000000,1.000000,11.4024
missense_variant,PRPH2,MISSENSE,NM_000322.4:p.Gln304Glu/c.910C>G,Cag/Gag,MODERATE,,0.756589,0.8452,rs390659,1(T),,,-1.0012(T),,chr6,42666164,42666164,G,C,hom,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln304Glu/c.910C>G|346|PRPH2|protein_coding|CODING|NM_000322.4|3|1),"IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7178,0.7262,0.7962,0.78,0.73,0.80,,0.000000(N),0.998(P),4.3(T),0.0029(T),0.022,0.564588,5.44,5.44,-0.120000,1.309000,6.040000,0.553000,0.915000,1.000000,16.413
synonymous_variant,PRPH2,SILENT,NM_000322.4:p.Val106Val/c.318T>C,gtT/gtC,LOW,COSM4161201(1),0.584465,0.5595,rs7764439,,,,,,chr6,42689755,42689755,A,G,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val106Val/c.318T>C|346|PRPH2|protein_coding|CODING|NM_000322.4|1|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000078642.1|RCV000127753.1,,0.5041,0.585,0.5885,0.61,0.65,0.58,,,,,,,,,,,,,,,,
missense_variant,TBCC,MISSENSE,NM_003192.2:p.Val65Ala/c.194T>C,gTt/gCt,MODERATE,,0.996406,1,rs2234026,0.82(T),0.0(B),-1.67(N),-0.9242(T),,chr6,42713618,42713618,A,G,hom,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val65Ala/c.194T>C|346|TBCC|protein_coding|CODING|NM_003192.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H3K56ac,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9928,0.9881,0.99,1.00,0.99,,0.004650(N),1.000(P),"2.65,2.65(T,T)",0.0028(T),0.033,-0.438825,5.03,4.1,-0.226000,1.267000,1.850000,0.496000,0.880000,0.988000,9.8443
synonymous_variant,GLTSCR1L,SILENT,NM_015349.1:p.Gly1021Gly/c.3063A>G,ggA/ggG,LOW,,0.00319489,0,rs138763422,,,,,,chr6,42833007,42833007,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1021Gly/c.3063A>G|1079|GLTSCR1L|protein_coding|CODING|NM_015349.1|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0072,0.0089,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,PEX6,MISSENSE,NM_000287.3:p.Pro939Gln/c.2816C>A,cCa/cAa,MODERATE,COSM1444600(2),0.33147,0.1012,rs1129187,0.19(T),0.006(B),1.52(L),-0.6512(T),,chr6,42932200,42932200,G,T,hom,"missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro939Gln/c.2816C>A|980|PEX6|protein_coding|CODING|NM_000287.3|17|1),downstream_gene_variant(MODIFIER||582||295|GNMT|protein_coding|CODING|NM_018960.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000078574.1,,0.3681,0.3516,0.4622,0.43,0.39,0.45,,0.945108(N),0.000(P),-3.51(D),0.4967(T),0.032,1.963729,5.96,0.549,0.650000,-0.182000,0.232000,0.910000,0.008000,0.000000,2.5906
synonymous_variant,PEX6,SILENT,NM_000287.3:p.Glu938Glu/c.2814G>A,gaG/gaA,LOW,COSM1444601(2),0.49361,0.1687,rs1129186,,,,,,chr6,42932202,42932202,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu938Glu/c.2814G>A|980|PEX6|protein_coding|CODING|NM_000287.3|17|1),downstream_gene_variant(MODIFIER||584||295|GNMT|protein_coding|CODING|NM_018960.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000078573.1,,0.4601,0.428,0.5447,0.60,0.73,0.53,,,,,,,,,,,,,,,,
synonymous_variant,PEX6,SILENT,NM_000287.3:p.Val133Val/c.399G>T,gtG/gtT,LOW,COSM3749975(4),0.331869,0.1002,rs9462858,,,,,,chr6,42946490,42946490,C,A,hom,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val133Val/c.399G>T|980|PEX6|protein_coding|CODING|NM_000287.3|1|1),"NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,RCV000078576.1,,0.3732,0.3516,0.4612,0.38,0.33,0.40,,,,,,,,,,,,,,,,
synonymous_variant,CUL7,SILENT,NM_001168370.1:p.Gln897Gln/c.2691A>G,caA/caG,LOW,,0.990216,1,rs9394939,,,,,,chr6,43014298,43014298,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln897Gln/c.2691A>G|1782|CUL7|protein_coding|CODING|NM_001168370.1|11|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln813Gln/c.2439A>G|1698|CUL7|protein_coding|CODING|NM_014780.4|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9918,0.9827,0.9722,0.98,0.99,0.97,,,,,,,,,,,,,,,,
missense_variant,CUL7,MISSENSE,NM_001168370.1:p.Gln897Arg/c.2690A>G,cAa/cGa,MODERATE,,0.990216,1,rs9381231,1(T),"0.001,0.001(B,B)",-1.01(N),-1.0028(T),,chr6,43014299,43014299,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln897Arg/c.2690A>G|1782|CUL7|protein_coding|CODING|NM_001168370.1|11|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln813Arg/c.2438A>G|1698|CUL7|protein_coding|CODING|NM_014780.4|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9918,0.9827,0.9722,0.98,0.99,0.97,,0.000192(N),0.000(P),"-0.22,-0.22(T,T)",0.0262(T),0.03,-0.032857,5.45,1.63,-0.119000,0.282000,1.448000,0.951000,0.988000,1.000000,9.8867
missense_variant,PTK7,MISSENSE,NM_001270398.1:p.Ala785Val/c.2354C>T,gCg/gTg,MODERATE,,0.0319489,0.006,rs34764696,0.05(D),"0.03,0.065,0.05,0.093,0.023(B,B,B,B,B)",1.1(L),-0.6711(T),,chr6,43112267,43112267,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala785Val/c.2354C>T|1078|PTK7|protein_coding|CODING|NM_001270398.1|15|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala777Val/c.2330C>T|1070|PTK7|protein_coding|CODING|NM_002821.4|15|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala737Val/c.2210C>T|1030|PTK7|protein_coding|CODING|NM_152880.3|14|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala647Val/c.1940C>T|940|PTK7|protein_coding|CODING|NM_152881.3|12|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala721Val/c.2162C>T|1014|PTK7|protein_coding|CODING|NM_152882.3|14|1),non_coding_exon_variant(MODIFIER|||n.2355C>T||PTK7||CODING|NR_072997.1|14|1),non_coding_exon_variant(MODIFIER|||n.2551C>T||PTK7||CODING|NR_072998.1|15|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0399,0.0317,0.0437,0.06,0.04,0.07,,0.031104(N),1.000(N),"-0.77,-0.86,-0.71,-0.78,-0.79,-2.45(T,T,T,T,T,D)",0.3246(T),0.225,1.043859,5.49,3.67,0.561000,0.654000,2.106000,0.046000,0.001000,0.042000,9.2091
synonymous_variant,CUL9,SILENT,NM_015089.3:p.Leu175Leu/c.525A>G,ttA/ttG,LOW,,0.353035,0.375,rs9472022,,,,,,chr6,43152573,43152573,A,G,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu175Leu/c.525A>G|2517|CUL9|protein_coding|CODING|NM_015089.3|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2526,0.2795,0.1223,0.29,0.56,0.15,,,,,,,,,,,,,,,,
synonymous_variant,CUL9,SILENT,NM_015089.3:p.Leu383Leu/c.1149C>G,ctC/ctG,LOW,,1,1,rs941849,,,,,,chr6,43154091,43154091,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu383Leu/c.1149C>G|2517|CUL9|protein_coding|CODING|NM_015089.3|4|1),"NHEK:H3K27ac,H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CUL9,MISSENSE,NM_015089.3:p.His2058Pro/c.6173A>C,cAc/cCc,MODERATE,COSM1444669(1),0.399361,0.4226,rs2273709,1(T),"0.0,0.0,0.0(B,B,B)",-1.7(N),-0.9327(T),,chr6,43184132,43184132,A,C,het,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His2058Pro/c.6173A>C|2517|CUL9|protein_coding|CODING|NM_015089.3|31|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2914,0.2233,0.174,0.36,0.66,0.21,,0.000002(N),1.000(P),"3.85,3.85,3.85(T,T,T)",0.0010(T),0.095,-1.547485,5.7,5.7,-0.121000,1.430000,2.797000,0.076000,0.998000,0.995000,10.902
synonymous_variant,CUL9,SILENT,NM_015089.3:p.Asp2211Asp/c.6633C>T,gaC/gaT,LOW,COSM3762095(1),0.207268,0.0179,rs6917902,,,,,,chr6,43188940,43188940,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2211Asp/c.6633C>T|2517|CUL9|protein_coding|CODING|NM_015089.3|34|1),"H1ESC:H3K36me3,K562:PolII,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1166,0.1686,0.1342,0.27,0.46,0.17,,,,,,,,,,,,,,,,
synonymous_variant,DNPH1,SILENT,NM_006443.2:p.Val90Val/c.270C>T,gtC/gtT,LOW,COSM1487781(1),0.0415335,0.003,rs7832,,,,,,chr6,43193877,43193877,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val90Val/c.270C>T|148|DNPH1|protein_coding|CODING|NM_199184.1|3|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val90Val/c.270C>T|174|DNPH1|protein_coding|CODING|NM_006443.2|3|1),downstream_gene_variant(MODIFIER||1552||2517|CUL9|protein_coding|CODING|NM_015089.3||1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0695,0.0908,0.0706,0.07,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,TTBK1,MISSENSE,NM_032538.1:p.Gly623Ala/c.1868G>C,gGc/gCc,MODERATE,COSM3749976(4),0.335064,0.3631,rs3800294,1(T),0.0(B),-0.345(N),-0.9883(T),,chr6,43230970,43230970,G,C,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly623Ala/c.1868G>C|1321|TTBK1|protein_coding|CODING|NM_032538.1|13|1),"HUVEC:DNase1,NHEK:DNase1",,,,0.3119,0.2867,0.3241,0.32,0.31,0.32,,0.436331(N),0.389(P),2.13(T),0.0076(T),0.01,-1.116704,4.73,3.79,-0.215000,1.124000,1.840000,0.572000,0.980000,0.928000,13.0829
missense_variant,TTBK1,MISSENSE,NM_032538.1:p.Lys1145Arg/c.3434A>G,aAg/aGg,MODERATE,COSM3749977(6),0.354233,0.3849,rs3800297,0.02(D),0.007(B),1.59(L),-1.0570(T),,chr6,43251912,43251912,A,G,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys1145Arg/c.3434A>G|1321|TTBK1|protein_coding|CODING|NM_032538.1|14|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.271,0.2176,0.2247,0.24,0.38,0.18,,0.002403(N),0.000(P),0.62(T),0.0615(T),0.021,1.166668,5.29,4.08,0.454000,0.807000,0.476000,0.069000,0.223000,0.052000,11.146
missense_variant,TTBK1,MISSENSE,NM_032538.1:p.Leu1184Ser/c.3551T>C,tTg/tCg,MODERATE,COSM451522(5),0.364816,0.3849,rs3800298,0.77(T),0.0(B),-1.32(N),-0.9807(T),,chr6,43252029,43252029,T,C,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu1184Ser/c.3551T>C|1321|TTBK1|protein_coding|CODING|NM_032538.1|14|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,NHEK:DNase1",,,,0.2832,0.2378,0.2515,0.27,0.39,0.21,,0.278991(N),1.000(P),0.7(T),0.0128(T),0.002,-2.531159,4.77,4.77,-0.215000,1.258000,1.185000,0.258000,0.242000,0.001000,7.4137
synonymous_variant,SLC22A7,SILENT,NM_153320.2:p.Ala407Ala/c.1221T>C,gcT/gcC,LOW,COSM3762098(1),0.976038,1,rs2651184,,,,,,chr6,43270097,43270097,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala405Ala/c.1215T>C|546|SLC22A7|protein_coding|CODING|NM_006672.3|7|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala407Ala/c.1221T>C|548|SLC22A7|protein_coding|CODING|NM_153320.2|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9957,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,CRIP3,MISSENSE,NM_206922.2:p.Ile188Thr/c.563T>C,aTt/aCt,MODERATE,COSM4161225(1),0.416933,0.621,rs2242416,0.61(T),0.047(B),,-0.4121(T),,chr6,43273604,43273604,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile188Thr/c.563T>C|204|CRIP3|protein_coding|CODING|NM_206922.2|8|1),downstream_gene_variant(MODIFIER||328||546|SLC22A7|protein_coding|CODING|NM_006672.3||1),downstream_gene_variant(MODIFIER||328||548|SLC22A7|protein_coding|CODING|NM_153320.2||1)","H1ESC:H3K36me3,HepG2:PolII,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5184,0.4035,0.5765,0.44,0.16,0.59,,,0.000(P),-3.03(D),0.4277(T),0.063,1.279807,5.77,5.77,0.533000,2.200000,4.562000,0.995000,1.000000,1.000000,14.039
synonymous_variant,ZNF318,SILENT,NM_014345.2:p.Pro2072Pro/c.6216G>A,ccG/ccA,LOW,COSM1444701(1),0.01877,0.0129,rs35650765,,,,,,chr6,43305520,43305520,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2072Pro/c.6216G>A|2279|ZNF318|protein_coding|CODING|NM_014345.2|10|1),"H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0143,0.0202,0.0487,0.03,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,ZNF318,MISSENSE,NM_014345.2:p.Val1797Ala/c.5390T>C,gTa/gCa,MODERATE,,0.976038,1,rs1459675,0.51(T),0.0(B),0(N),-0.9490(T),,chr6,43306346,43306346,A,G,hom,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val1797Ala/c.5390T>C|2279|ZNF318|protein_coding|CODING|NM_014345.2|10|1),"H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM12878:SP1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:PU1",,,,1,0.9957,1,0.98,0.94,1.00,,0.122498(N),1.000(P),2.8(T),0.0034(T),0.024,-1.464056,5.83,-4.41,-0.226000,-1.266000,-0.303000,0.005000,0.000000,0.000000,1.8644
synonymous_variant,ZNF318,SILENT,NM_014345.2:p.Arg111Arg/c.333G>A,cgG/cgA,LOW,COSM4161230(2),0.975839,1,rs9381238,,,,,,chr6,43336771,43336771,C,T,hom,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg111Arg/c.333G>A|2279|ZNF318|protein_coding|CODING|NM_014345.2|1|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,IMR90:H3K27ac,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,1,0.9957,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DLK2,SILENT,NM_023932.3:p.Leu367Leu/c.1101C>T,ctC/ctT,LOW,,0.0203674,0,rs35056042,,,,-0.9782(T),,chr6,43418328,43418328,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu330Leu/c.990C>T|346|DLK2|protein_coding|CODING|NM_001286655.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu361Leu/c.1083C>T|377|DLK2|protein_coding|CODING|NM_001286656.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu367Leu/c.1101C>T|383|DLK2|protein_coding|CODING|NM_023932.3|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu367Leu/c.1101C>T|383|DLK2|protein_coding|CODING|NM_206539.2|6|1),downstream_gene_variant(MODIFIER||165||1492|ABCC10|protein_coding|CODING|NM_001198934.1||1),downstream_gene_variant(MODIFIER||165||1464|ABCC10|protein_coding|CODING|NM_033450.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0202,0.0507,0.04,0.01,0.05,,,1.000(D),,0.1286(T),.,0.450594,5.09,3.24,0.462000,0.507000,0.475000,0.977000,0.515000,0.937000,8.7034
missense_variant,DLK2,MISSENSE,NM_023932.3:p.Gly301Arg/c.901G>A,Ggg/Agg,MODERATE,,0.0199681,0,rs35192247,0.39(T),0.009(B),0.805(L),-0.7509(T),,chr6,43418528,43418528,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly264Arg/c.790G>A|346|DLK2|protein_coding|CODING|NM_001286655.1|6|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly295Arg/c.883G>A|377|DLK2|protein_coding|CODING|NM_001286656.1|6|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly301Arg/c.901G>A|383|DLK2|protein_coding|CODING|NM_023932.3|6|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly301Arg/c.901G>A|383|DLK2|protein_coding|CODING|NM_206539.2|6|1),downstream_gene_variant(MODIFIER||365||1492|ABCC10|protein_coding|CODING|NM_001198934.1||1),downstream_gene_variant(MODIFIER||365||1464|ABCC10|protein_coding|CODING|NM_033450.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0202,0.0507,0.04,0.01,0.05,,0.002554(N),1.000(D),"-2.55,-2.52,-2.52,-2.55(D,D,D,D)",0.2898(T),0.479,2.655420,5.09,3.3,0.462000,0.546000,2.096000,0.623000,0.799000,0.959000,9.1141
synonymous_variant,DLK2,SILENT,NM_023932.3:p.Thr246Thr/c.738C>T,acC/acT,LOW,,0.278954,0.0804,rs1214748,,,,-1.0074(T),,chr6,43418691,43418691,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr209Thr/c.627C>T|346|DLK2|protein_coding|CODING|NM_001286655.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr240Thr/c.720C>T|377|DLK2|protein_coding|CODING|NM_001286656.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr246Thr/c.738C>T|383|DLK2|protein_coding|CODING|NM_023932.3|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr246Thr/c.738C>T|383|DLK2|protein_coding|CODING|NM_206539.2|6|1),downstream_gene_variant(MODIFIER||528||1492|ABCC10|protein_coding|CODING|NM_001198934.1||1),downstream_gene_variant(MODIFIER||528||1464|ABCC10|protein_coding|CODING|NM_033450.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1656,0.2147,0.2863,0.38,0.50,0.31,,,0.000(P),,0.0287(T),.,0.744851,4.94,-2.45,-0.521000,-0.280000,-0.388000,0.918000,0.995000,0.115000,4.7667
synonymous_variant,DLK2,SILENT,NM_023932.3:p.His232His/c.696C>T,caC/caT,LOW,COSM4161232(1),0.278954,0.0804,rs1214749,,,,-1.0325(T),,chr6,43418733,43418733,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His195His/c.585C>T|346|DLK2|protein_coding|CODING|NM_001286655.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His226His/c.678C>T|377|DLK2|protein_coding|CODING|NM_001286656.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His232His/c.696C>T|383|DLK2|protein_coding|CODING|NM_023932.3|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His232His/c.696C>T|383|DLK2|protein_coding|CODING|NM_206539.2|6|1),downstream_gene_variant(MODIFIER||570||1492|ABCC10|protein_coding|CODING|NM_001198934.1||1),downstream_gene_variant(MODIFIER||570||1464|ABCC10|protein_coding|CODING|NM_033450.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1656,0.2147,0.2863,0.38,0.50,0.31,,,0.000(P),,0.0432(T),.,0.047770,4.94,-5.77,-1.390000,-1.278000,-0.286000,0.653000,0.835000,0.338000,9.4542
missense_variant,CAPN11,MISSENSE,NM_007058.3:p.Ile521Val/c.1561A>G,Att/Gtt,MODERATE,,0.185503,0.1349,rs34710081,0.29(T),"0.416,0.416(B,B)",1.585(L),-0.3458(T),,chr6,44147821,44147821,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile521Val/c.1561A>G|739|CAPN11|protein_coding|CODING|NM_007058.3|14|1),HepG2:H3K27me3,,,,0.2495,0.2133,0.2028,0.19,0.14,0.22,,0.000198(D),0.425(P),"-2.34,-2.34(D,D)",0.3921(T),0.088,1.610849,4.97,4.97,0.496000,2.105000,1.646000,0.492000,0.936000,1.000000,7.5215
synonymous_variant,HSP90AB1,SILENT,NM_001271969.1:p.Lys247Lys/c.741A>G,aaA/aaG,LOW,,0.706869,0.7054,rs13296,,,,,,chr6,44218120,44218120,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys247Lys/c.741A>G|724|HSP90AB1|protein_coding|CODING|NM_001271969.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys247Lys/c.741A>G|724|HSP90AB1|protein_coding|CODING|NM_001271970.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys199Lys/c.597A>G|676|HSP90AB1|protein_coding|CODING|NM_001271971.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys237Lys/c.711A>G|714|HSP90AB1|protein_coding|CODING|NM_001271972.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys247Lys/c.741A>G|724|HSP90AB1|protein_coding|CODING|NM_007355.3|6|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:SP1,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,K562:HEY1,GM06990:H3K36me3,NHEK:DNase1",,,,0.635,0.6441,0.6829,0.72,0.81,0.68,,,,,,,,,,,,,,,,
synonymous_variant,SLC35B2,SILENT,NM_178148.3:p.Thr244Thr/c.732C>A,acC/acA,LOW,COSM3762105(1),0.202077,0.3899,rs1875324,,,,,,chr6,44223010,44223010,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr239Thr/c.717C>A|427|SLC35B2|protein_coding|CODING|NM_001286509.1|4|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr239Thr/c.717C>A|427|SLC35B2|protein_coding|CODING|NM_001286510.1|4|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr195Thr/c.585C>A|383|SLC35B2|protein_coding|CODING|NM_001286511.1|4|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr195Thr/c.585C>A|383|SLC35B2|protein_coding|CODING|NM_001286512.1|4|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr151Thr/c.453C>A|339|SLC35B2|protein_coding|CODING|NM_001286513.1|3|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr139Thr/c.417C>A|327|SLC35B2|protein_coding|CODING|NM_001286517.1|3|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr111Thr/c.333C>A|299|SLC35B2|protein_coding|CODING|NM_001286519.1|2|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr111Thr/c.333C>A|299|SLC35B2|protein_coding|CODING|NM_001286520.1|4|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr244Thr/c.732C>A|432|SLC35B2|protein_coding|CODING|NM_178148.3|4|1),upstream_gene_variant(MODIFIER||988|||MIR4647||NON_CODING|NR_039790.1||1),downstream_gene_variant(MODIFIER||1385||724|HSP90AB1|protein_coding|CODING|NM_001271969.1||1),downstream_gene_variant(MODIFIER||1385||724|HSP90AB1|protein_coding|CODING|NM_001271970.1||1),downstream_gene_variant(MODIFIER||1385||676|HSP90AB1|protein_coding|CODING|NM_001271971.1||1),downstream_gene_variant(MODIFIER||1385||714|HSP90AB1|protein_coding|CODING|NM_001271972.1||1),downstream_gene_variant(MODIFIER||1385||724|HSP90AB1|protein_coding|CODING|NM_007355.3||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:RXRA,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,K562:BCL3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,HepG2:DNase1,K562:HEY1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.2832,0.1945,0.1958,0.14,0.04,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TMEM151B,SILENT,NM_001137560.1:p.Leu332Leu/c.996A>G,ctA/ctG,LOW,COSM451559(17),0.58746,0.5952,rs3734710,,,,,,chr6,44243559,44243559,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu332Leu/c.996A>G|566|TMEM151B|protein_coding|CODING|NM_001137560.1|3|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.6176,0.7536,0.67,0.61,0.46,0.67,,,,,,,,,,,,,,,,
synonymous_variant,TCTE1,SILENT,NM_182539.3:p.Ile491Ile/c.1473A>C,atA/atC,LOW,,0.883586,1,rs484757,,,,,,chr6,44247951,44247951,T,G,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile491Ile/c.1473A>C|501|TCTE1|protein_coding|CODING|NM_182539.3|5|1),downstream_gene_variant(MODIFIER||769||566|TMEM151B|protein_coding|CODING|NM_001137560.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9519,0.9496,0.9612,0.88,0.71,0.97,,,,,,,,,,,,,,,,
synonymous_variant,TCTE1,SILENT,NM_182539.3:p.Gly326Gly/c.978T>C,ggT/ggC,LOW,,0.641573,0.6012,rs516582,,,,,,chr6,44250165,44250165,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly326Gly/c.978T>C|501|TCTE1|protein_coding|CODING|NM_182539.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6524,0.8098,0.7843,0.72,0.53,0.81,,,,,,,,,,,,,,,,
synonymous_variant,TCTE1,SILENT,NM_182539.3:p.Arg266Arg/c.798T>C,cgT/cgC,LOW,,0.879792,0.9851,rs324143,,,,,,chr6,44253749,44253749,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg266Arg/c.798T>C|501|TCTE1|protein_coding|CODING|NM_182539.3|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,K562:Nrsf,HepG2:H3K27me3",,,,0.954,0.9424,0.9612,0.88,0.71,0.96,,,,,,,,,,,,,,,,
missense_variant,TCTE1,MISSENSE,NM_182539.3:p.Pro35Leu/c.104C>T,cCa/cTa,MODERATE,,0.644569,0.6002,rs324146,0.04(D),0.001(B),1.95(M),-0.9707(T),,chr6,44255459,44255459,G,A,hom,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro35Leu/c.104C>T|501|TCTE1|protein_coding|CODING|NM_182539.3|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6554,0.8098,0.7843,0.72,0.55,0.81,,0.841424(N),1.000(P),2.11(T),0.0198(T),0.041,2.269869,4.44,0.555,0.411000,-0.014000,-0.155000,0.474000,0.000000,0.000000,3.5257
synonymous_variant,AARS2,SILENT,NM_020745.3:p.Ser957Ser/c.2871A>G,tcA/tcG,LOW,COSM4161250(1),0.869409,0.998,rs325008,,,,,,chr6,44268371,44268371,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser957Ser/c.2871A>G|985|AARS2|protein_coding|CODING|NM_020745.3|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.953,0.9496,0.9612,0.87,0.69,0.97,,,,,,,,,,,,,,,,
synonymous_variant,AARS2,SILENT,NM_020745.3:p.Lys869Lys/c.2607G>A,aaG/aaA,LOW,COSM4161251(1),0.582668,0.4256,rs498512,,,,,,chr6,44269193,44269193,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys869Lys/c.2607G>A|985|AARS2|protein_coding|CODING|NM_020745.3|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6288,0.7666,0.7266,0.68,0.51,0.76,,,,,,,,,,,,,,,,
missense_variant,AARS2,MISSENSE,NM_020745.3:p.Ile339Val/c.1015A>G,Atc/Gtc,MODERATE,,0.888978,0.998,rs324136,0.3(T),0.0(B),-1.245(N),-1.0856(T),,chr6,44275011,44275011,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile339Val/c.1015A>G|985|AARS2|protein_coding|CODING|NM_020745.3|6|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9489,0.9524,0.9612,0.89,0.73,0.97,,0.007350(N),0.000(P),-0.43(T),0.0329(T),0.057,-0.595453,4.67,2.88,-0.741000,0.396000,1.993000,0.893000,0.464000,0.935000,9.2546
synonymous_variant,SPATS1,SILENT,NM_145026.3:p.Ser75Ser/c.225T>A,tcT/tcA,LOW,COSM3949270(1),0.702077,0.7044,rs4714783,,,,-1.0317(T),,chr6,44320548,44320548,T,A,hom,synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser75Ser/c.225T>A|300|SPATS1|protein_coding|CODING|NM_145026.3|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.6493,0.8256,0.7714,0.74,0.68,0.78,,,1.000(P),,0.0320(T),.,0.106806,3.92,1.45,0.533000,0.310000,0.488000,0.008000,0.001000,0.047000,3.1895
missense_variant,CLIC5,MISSENSE,NM_001114086.1:p.Thr114Ala/c.340A>G,Acc/Gcc,MODERATE,,0.0361422,0,rs723580,1(T),0.0(B),0.55(N),-1.0140(T),,chr6,46047640,46047640,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr114Ala/c.340A>G|410|CLIC5|protein_coding|CODING|NM_001114086.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.0215,0.0634,0.0656,0.04,0.04,0.05,,0.063585(N),1.000(N),2.19(T),0.0057(T),0.006,0.399710,4.63,-9.26,-1.385000,-2.855000,-1.187000,0.001000,0.000000,0.000000,4.0922
missense_variant,ENPP4,MISSENSE,NM_014936.4:p.His144Gln/c.432C>G,caC/caG,MODERATE,,0.451677,0.4444,rs7451713,0.74(T),0.093(B),0.385(N),-1.0811(T),,chr6,46107752,46107752,C,G,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His144Gln/c.432C>G|453|ENPP4|protein_coding|CODING|NM_014936.4|2|1),GM06990:H3K36me3,,,,0.6922,0.4467,0.5348,0.44,0.26,0.53,,0.002465(N),0.099(P),-0.59(T),0.0693(T),0.109,1.012363,5.97,2.08,-0.345000,0.088000,0.713000,0.507000,0.929000,0.994000,10.5855
synonymous_variant,ENPP5,SILENT,NM_001290072.1:p.Thr384Thr/c.1152C>T,acC/acT,LOW,,0.446486,0.4494,rs2235881,,,,,,chr6,46129345,46129345,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr384Thr/c.1152C>T|477|ENPP5|protein_coding|CODING|NM_001290072.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr290Thr/c.870C>T|383|ENPP5|protein_coding|CODING|NM_001290073.1|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr384Thr/c.1152C>T|477|ENPP5|protein_coding|CODING|NM_021572.5|4|1)",H1ESC:H3K36me3,,,,0.6994,0.4467,0.5348,0.43,0.24,0.53,,,,,,,,,,,,,,,,
synonymous_variant,ENPP5,SILENT,NM_001290072.1:p.His239His/c.717T>C,caT/caC,LOW,,0.0353435,0,rs34450398,,,,,,chr6,46135283,46135283,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His145His/c.435T>C|383|ENPP5|protein_coding|CODING|NM_001290073.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His239His/c.717T>C|477|ENPP5|protein_coding|CODING|NM_001290072.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His239His/c.717T>C|477|ENPP5|protein_coding|CODING|NM_021572.5|2|1)",HUVEC:H3K27me3,,,,0.0266,0.0591,0.0696,0.05,0.04,0.06,,,,,,,,,,,,,,,,
missense_variant,ENPP5,MISSENSE,NM_001290072.1:p.Ile171Val/c.511A>G,Att/Gtt,MODERATE,COSM4161254(1),0.444489,0.4494,rs6926570,0.46(T),0.241(B),1.08(L),-0.8598(T),,chr6,46135489,46135489,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile77Val/c.229A>G|383|ENPP5|protein_coding|CODING|NM_001290073.1|2|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile171Val/c.511A>G|477|ENPP5|protein_coding|CODING|NM_001290072.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile171Val/c.511A>G|477|ENPP5|protein_coding|CODING|NM_021572.5|2|1)",HUVEC:H3K27me3,,,,0.6933,0.4467,0.5308,0.43,0.24,0.53,,0.000000(D),0.003(P),"-0.66,-0.66(T,T)",0.1564(T),0.205,2.903331,5.33,5.33,0.533000,2.145000,7.618000,0.981000,1.000000,1.000000,15.6241
missense_variant,ENPP5,MISSENSE,NM_001290072.1:p.Arg39Pro/c.116G>C,cGt/cCt,MODERATE,,0.0273562,0,rs34109856,0(D),"1.0,1.0(D,D)",3.7(H),0.6030(D),,chr6,46135884,46135884,C,G,het,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg39Pro/c.116G>C|477|ENPP5|protein_coding|CODING|NM_001290072.1|3|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg39Pro/c.116G>C|477|ENPP5|protein_coding|CODING|NM_021572.5|2|1),intron_variant(MODIFIER|||c.-26-141G>C|383|ENPP5|protein_coding|CODING|NM_001290073.1|1|1)",HUVEC:H3K27me3,,,,0.0266,0.0562,0.0696,0.04,0.01,0.05,,0.000000(D),1.000(D),"-1.21,-1.21(T,T)",0.6963(D),0.373,4.018882,5.26,5.26,0.591000,2.613000,5.725000,0.998000,1.000000,1.000000,14.5296
missense_variant,ENPP5,MISSENSE,NM_001290072.1:p.Leu6Ile/c.16C>A,Ctc/Atc,MODERATE,,0.444289,0.4494,rs3806995,0.22(T),0.008(B),0.55(N),-1.0355(T),,chr6,46135984,46135984,G,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu6Ile/c.16C>A|477|ENPP5|protein_coding|CODING|NM_001290072.1|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu6Ile/c.16C>A|477|ENPP5|protein_coding|CODING|NM_021572.5|2|1),intron_variant(MODIFIER|||c.-26-241C>A|383|ENPP5|protein_coding|CODING|NM_001290073.1|1|1)",HUVEC:H3K27me3,,,,0.6933,0.4467,0.5298,0.43,0.23,0.52,,0.622403(N),1.000(P),"-0.86,-0.86(T,T)",0.1062(T),0.072,0.318747,5.26,3.41,0.591000,1.305000,1.068000,0.108000,0.015000,0.209000,5.3566
missense_variant,CYP39A1,MISSENSE,NM_016593.4:p.Arg103His/c.308G>A,cGt/cAt,MODERATE,COSM4004054(1),0.257788,0.2183,rs2277119,0.68(T),"0.005,0.002(B,B)",-0.74(N),-1.0576(T),,chr6,46609905,46609905,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg103His/c.308G>A|449|CYP39A1|protein_coding|CODING|NM_001278738.1|2|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg103His/c.308G>A|469|CYP39A1|protein_coding|CODING|NM_016593.4|2|1),5_prime_UTR_variant(MODIFIER||4218|c.-34G>A|297|CYP39A1|protein_coding|CODING|NM_001278739.1|2|1)",HUVEC:H3K27me3,,,,0.3773,0.1844,0.2505,0.23,0.24,0.23,,0.443911(N),1.000(P),-0.34(T),0.0378(T),0.059,-0.537807,4.7,-8.93,-1.119000,-2.709000,-0.459000,0.021000,0.000000,0.000000,19.749
synonymous_variant,SLC25A27,SILENT,NM_004277.4:p.Ala75Ala/c.225T>C,gcT/gcC,LOW,,0.885383,0.9097,rs3757241,,,,,,chr6,46623698,46623698,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala75Ala/c.225T>C|300|SLC25A27|protein_coding|CODING|NM_001204051.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala75Ala/c.225T>C|245|SLC25A27|protein_coding|CODING|NM_001204052.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala75Ala/c.225T>C|323|SLC25A27|protein_coding|CODING|NM_004277.4|2|1)","NHEK:CTCF,GM12878:H3K27me3,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,NHEK:H3K36me3,HepG2:CTCF,H1ESC:Rad21,H1ESC:CTCF",,,,0.8926,0.8631,0.7575,0.86,0.95,0.81,,,,,,,,,,,,,,,,
missense_variant,TDRD6,MISSENSE,NM_001010870.2:p.Thr398Ala/c.1192A>G,Aca/Gca,MODERATE,,0.888179,0.9097,rs3799277,0.79(T),"0.0,0.0(B,B)",-1.7(N),-0.9069(T),,chr6,46657057,46657057,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr398Ala/c.1192A>G|2096|TDRD6|protein_coding|CODING|NM_001010870.2|1|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr398Ala/c.1192A>G|2066|TDRD6|protein_coding|CODING|NM_001168359.1|1|1)",,,,,0.8896,0.8631,0.7624,0.86,0.96,0.81,,0.659565(N),1.000(P),"2.58,2.58(T,T)",0.0026(T),0.017,-2.894098,5.55,3.79,-0.726000,0.480000,1.285000,0.234000,0.926000,0.999000,8.3551
synonymous_variant,TDRD6,SILENT,NM_001010870.2:p.Pro1266Pro/c.3798C>T,ccC/ccT,LOW,,0.0271565,0.002,rs12199679,,,,,,chr6,46659663,46659663,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1266Pro/c.3798C>T|2096|TDRD6|protein_coding|CODING|NM_001010870.2|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1266Pro/c.3798C>T|2066|TDRD6|protein_coding|CODING|NM_001168359.1|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.0542,0.0202,0.0606,0.05,0.01,0.08,,,,,,,,,,,,,,,,
missense_variant,PLA2G7,MISSENSE,NM_001168357.1:p.Val379Ala/c.1136T>C,gTa/gCa,MODERATE,,0.810304,0.9087,rs1051931,0.73(T),0.814(P),2.015(M),-0.9088(T),,chr6,46672943,46672943,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val379Ala/c.1136T>C|441|PLA2G7|protein_coding|CODING|NM_001168357.1|11|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val379Ala/c.1136T>C|441|PLA2G7|protein_coding|CODING|NM_005084.3|11|1),downstream_gene_variant(MODIFIER||887||2096|TDRD6|protein_coding|CODING|NM_001010870.2||1),downstream_gene_variant(MODIFIER||887||2066|TDRD6|protein_coding|CODING|NM_001168359.1||1)",HUVEC:H3K27me3,,RCV000008378.1|RCV000049574.1,,0.8558,0.8458,0.7565,0.78,0.75,0.80,,0.029152(N),0.000(P),"0.63,0.63(T,T)",0.1233(T),0.662,2.924347,5.87,5.87,0.482000,2.247000,6.861000,0.901000,0.775000,0.980000,11.8741
synonymous_variant,MEP1A,SILENT,NM_005588.2:p.Gln241Gln/c.723G>A,caG/caA,LOW,COSM3762110(1),0.398363,0.2153,rs6920863,,,,,,chr6,46793175,46793175,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln241Gln/c.723G>A|746|MEP1A|protein_coding|CODING|NM_005588.2|8|1),"HUVEC:H3K27me3,HSMM:H3K27me3",,,,0.4131,0.428,0.3777,0.43,0.50,0.40,,,,,,,,,,,,,,,,
missense_variant,MEP1A,MISSENSE,NM_005588.2:p.Val469Leu/c.1405G>T,Gta/Tta,MODERATE,COSM3762111(2),0.397564,0.2133,rs2274658,0.3(T),"0.005,0.009(B,B)",0.265(N),-0.9381(T),,chr6,46801071,46801071,G,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val469Leu/c.1405G>T|746|MEP1A|protein_coding|CODING|NM_005588.2|11|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.411,0.428,0.3777,0.43,0.51,0.40,,0.001820(N),1.000(P),2.13(T),0.0077(T),0.032,0.017364,5.72,1.18,-1.006000,-0.031000,0.342000,0.002000,0.803000,0.023000,2.3762
missense_variant,MEP1A,MISSENSE,NM_005588.2:p.Thr726Met/c.2177C>T,aCg/aTg,MODERATE,COSM3762112(2),0.253994,0.1944,rs1804211,0.02(D),"0.308,0.289(B,B)",0.895(L),-1.0261(T),,chr6,46806809,46806809,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr726Met/c.2177C>T|746|MEP1A|protein_coding|CODING|NM_005588.2|14|1),,,,,0.363,0.3646,0.3469,0.28,0.12,0.35,,0.752909(N),1.000(P),1.74(T),0.0178(T),0.099,2.423088,5.8,-1.33,0.650000,-0.097000,-0.788000,0.128000,0.027000,0.000000,8.2215
synonymous_variant,GPR116,SILENT,NM_001098518.1:p.Asn1044Asn/c.3132C>T,aaC/aaT,LOW,,0.840256,0.9921,rs613870,,,,,,chr6,46826508,46826508,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1044Asn/c.3132C>T|1346|GPR116|protein_coding|CODING|NM_001098518.1|17|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1044Asn/c.3132C>T|1346|GPR116|protein_coding|CODING|NM_015234.4|17|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9387,0.9078,0.9225,0.82,0.59,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GPR116,SILENT,NM_001098518.1:p.Val975Val/c.2925A>T,gtA/gtT,LOW,,0.841454,0.9921,rs572248,,,,,,chr6,46826715,46826715,T,A,hom,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val975Val/c.2925A>T|1346|GPR116|protein_coding|CODING|NM_001098518.1|17|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val975Val/c.2925A>T|1346|GPR116|protein_coding|CODING|NM_015234.4|17|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9407,0.9078,0.9225,0.82,0.60,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GPR116,SILENT,NM_001098518.1:p.Thr932Thr/c.2796A>G,acA/acG,LOW,,0.841254,0.9921,rs571247,,,,,,chr6,46826844,46826844,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr932Thr/c.2796A>G|1346|GPR116|protein_coding|CODING|NM_001098518.1|17|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr932Thr/c.2796A>G|1346|GPR116|protein_coding|CODING|NM_015234.4|17|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9407,0.9078,0.9215,0.82,0.60,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GPR116,SILENT,NM_001098518.1:p.Ala910Ala/c.2730C>T,gcC/gcT,LOW,COSM4161258(1),0.841454,0.9921,rs611779,,,,,,chr6,46826910,46826910,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala910Ala/c.2730C>T|1346|GPR116|protein_coding|CODING|NM_001098518.1|17|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala910Ala/c.2730C>T|1346|GPR116|protein_coding|CODING|NM_015234.4|17|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9407,0.9078,0.9225,0.82,0.60,0.93,,,,,,,,,,,,,,,,
missense_variant,GPR116,MISSENSE,NM_001098518.1:p.Met856Thr/c.2567T>C,aTg/aCg,MODERATE,COSM1444917(2),0.510383,0.63,rs547499,0.31(T),"0.013,0.165,0.03,0.165(B,B,B,B)",1.87(L),-1.0253(T),,chr6,46827073,46827073,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met856Thr/c.2567T>C|1346|GPR116|protein_coding|CODING|NM_001098518.1|17|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met856Thr/c.2567T>C|1346|GPR116|protein_coding|CODING|NM_015234.4|17|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.5777,0.6225,0.7227,0.56,0.23,0.72,,0.012912(N),1.000(P),"0.84,0.84,0.84,0.84,0.84(T,T,T,T,T)",0.0554(T),0.248,-0.419264,5.58,5.58,0.454000,2.126000,1.833000,0.671000,0.941000,0.003000,6.2135
synonymous_variant,GPR116,SILENT,NM_001098518.1:p.Ser838Ser/c.2514G>A,tcG/tcA,LOW,,0.841454,0.9921,rs386601578,,,,,,chr6,46827126,46827126,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser838Ser/c.2514G>A|1346|GPR116|protein_coding|CODING|NM_001098518.1|17|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser838Ser/c.2514G>A|1346|GPR116|protein_coding|CODING|NM_015234.4|17|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9407,0.9078,0.9225,0.82,0.60,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GPR116,SILENT,NM_001098518.1:p.Val652Val/c.1956C>T,gtC/gtT,LOW,COSM3762113(2),0.5,0.628,rs386601768,,,,,,chr6,46832813,46832813,G,A,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val652Val/c.1956C>T|1346|GPR116|protein_coding|CODING|NM_001098518.1|14|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val652Val/c.1956C>T|1346|GPR116|protein_coding|CODING|NM_015234.4|14|1)","HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.5706,0.6182,0.7237,0.55,0.21,0.72,,,,,,,,,,,,,,,,
missense_variant,GPR116,MISSENSE,NM_001098518.1:p.Thr604Met/c.1811C>T,aCg/aTg,MODERATE,,0.841254,0.9921,rs386600165,0.29(T),"0.002,0.001,0.008,0.001(B,B,B,B)",0(N),-0.9835(T),,chr6,46834685,46834685,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr604Met/c.1811C>T|1346|GPR116|protein_coding|CODING|NM_001098518.1|13|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr604Met/c.1811C>T|1346|GPR116|protein_coding|CODING|NM_015234.4|13|1)","HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.9407,0.9078,0.9225,0.82,0.60,0.93,,0.545939(N),1.000(P),"1.74,2.13,1.74,1.74,1.69(T,T,T,T,T)",0.0112(T),0.052,-0.625942,5.49,1.68,-0.254000,-0.104000,-0.299000,0.001000,0.000000,0.000000,8.2322
synonymous_variant,GPR116,SILENT,NM_001098518.1:p.Thr100Thr/c.300C>T,acC/acT,LOW,,0.861022,0.8413,rs386605056,,,,,,chr6,46856100,46856100,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr100Thr/c.300C>T|1346|GPR116|protein_coding|CODING|NM_001098518.1|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr100Thr/c.300C>T|1346|GPR116|protein_coding|CODING|NM_015234.4|4|1)",NH-A:DNase1,,,,0.7761,0.8602,0.8618,0.89,0.93,0.88,,,,,,,,,,,,,,,,
synonymous_variant,CD2AP,SILENT,NM_012120.2:p.Leu402Leu/c.1204C>T,Ctg/Ttg,LOW,,0.983027,1,rs2039503,,,,,,chr6,47563692,47563692,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu402Leu/c.1204C>T|639|CD2AP|protein_coding|CODING|NM_012120.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9957,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,GPR111,MISSENSE,NM_153839.6:p.Ser49Pro/c.145T>C,Tcc/Ccc,MODERATE,,0.0664936,0,rs13212023,0.04(D),"0.898,0.871(P,P)",0.975(L),-1.0697(T),,chr6,47646748,47646748,T,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser49Pro/c.145T>C|642|GPR111|protein_coding|CODING|NM_153839.6|5|1),HepG2:H3K27me3,,,,0.0153,0.1167,0.2217,0.15,0.04,0.20,,0.459788(N),1.000(P),"1.83,1.79,1.06(T,T,T)",0.0732(T),0.294,2.674804,4.69,2.12,0.524000,0.334000,0.961000,0.037000,0.007000,0.052000,5.1443
missense_variant,GPR111,MISSENSE,NM_153839.6:p.Leu256Met/c.766T>A,Ttg/Atg,MODERATE,,0.397564,0.6915,rs17541107,0.18(T),"0.807,0.646(P,P)",2.28(M),-0.9916(T),,chr6,47649265,47649265,T,A,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu256Met/c.766T>A|642|GPR111|protein_coding|CODING|NM_153839.6|7|1),,,,,0.2474,0.5331,0.3678,0.33,0.28,0.35,,0.415293(N),1.000(P),"0.91,0.91,0.91(T,T,T)",0.0862(T),0.091,2.286730,5.37,-6.69,-0.472000,-1.925000,-1.302000,0.822000,0.000000,0.000000,9.618
missense_variant,GPR115,MISSENSE,NM_153838.3:p.Lys541Asn/c.1623A>C,aaA/aaC,MODERATE,COSM4161270(1),0.824481,0.8671,rs9369738,0.57(T),0.151(B),0.335(N),-1.0178(T),,chr6,47682604,47682604,A,C,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys541Asn/c.1623A>C|695|GPR115|protein_coding|CODING|NM_153838.3|6|1),"NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8548,0.8991,0.8867,0.82,0.70,0.89,,0.016199(N),1.000(P),"0.86,0.86,0.86(T,T,T)",0.0181(T),0.008,-0.355831,5.24,-1.48,-5.356000,-0.452000,-1.706000,0.014000,0.140000,0.000000,0.8304
synonymous_variant,PTCHD4,SILENT,NM_001013732.3:p.Val467Val/c.1401T>C,gtT/gtC,LOW,,0.745607,0.8016,rs3799276,,,,,,chr6,47847179,47847179,A,G,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val467Val/c.1401T>C|846|PTCHD4|protein_coding|CODING|NM_001013732.3|3|1),"HSMM:H3K36me3,HepG2:H3K36me3",,,,0.7474,0.8516,0.7475,0.72,0.67,0.74,,,,,,,,,,,,,,,,
synonymous_variant,PTCHD4,SILENT,NM_001013732.3:p.Ala393Ala/c.1179T>C,gcT/gcC,LOW,,0.648962,0.746,rs2068006,,,,,,chr6,47847401,47847401,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala393Ala/c.1179T>C|846|PTCHD4|protein_coding|CODING|NM_001013732.3|3|1),"HSMM:H3K36me3,HepG2:H3K36me3",,,,0.6759,0.7911,0.6769,0.63,0.51,0.68,,,,,,,,,,,,,,,,
missense_variant,CENPQ,MISSENSE,NM_018132.3:p.Asp266Gly/c.797A>G,gAt/gGt,MODERATE,COSM1444998(2),0.479034,0.5794,rs2501968,0.02(D),0.083(B),2.075(M),-0.9799(T),,chr6,49459978,49459978,A,G,hom,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp266Gly/c.797A>G|268|CENPQ|protein_coding|CODING|NM_018132.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3824,0.67,0.4334,0.41,0.41,0.41,,0.002153(N),0.974(P),0.52(T),0.0878(T),0.12,1.790577,5.4,4.24,0.524000,1.067000,2.228000,0.417000,0.363000,0.998000,8.0688
missense_variant,GLYATL3,MISSENSE,NM_001010904.1:p.Met16Thr/c.47T>C,aTg/aCg,MODERATE,COSM1137536(2),0.182109,0.2044,rs13193063,0.45(T),0.129(B),1.54(L),-1.0131(T),,chr6,49479750,49479750,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met16Thr/c.47T>C|288|GLYATL3|protein_coding|CODING|NM_001010904.1|2|1),HUVEC:H3K27me3,,,,0.1697,0.1931,0.333,,,,,0.005433(N),0.885(P),"2.58,2.58(T,T)",0.0159(T),0.316,1.509980,5.8,5.8,0.472000,2.215000,1.779000,0.992000,0.746000,0.923000,12.5278
synonymous_variant,GLYATL3,SILENT,NM_001010904.1:p.Ser24Ser/c.72A>T,tcA/tcT,LOW,COSM3762114(1),0.453474,0.378,rs1480615,,,,,,chr6,49479775,49479775,A,T,het,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser24Ser/c.72A>T|288|GLYATL3|protein_coding|CODING|NM_001010904.1|2|1),HUVEC:H3K27me3,,,,0.5327,0.3631,0.6362,0.57,0.41,0.65,,,,,,,,,,,,,,,,
missense_variant,GLYATL3,MISSENSE,NM_001010904.1:p.Gln104Lys/c.310C>A,Caa/Aaa,MODERATE,COSM3762115(1),0.257987,0.499,rs9367358,0.85(T),0.132(B),2.34(M),-1.0862(T),,chr6,49485266,49485266,C,A,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln104Lys/c.310C>A|288|GLYATL3|protein_coding|CODING|NM_001010904.1|4|1),,,,,0.2628,0.451,0.2018,0.15,0.03,0.20,,,0.260(P),"1.96,1.96(T,T)",0.0324(T),0.302,3.440813,6.01,6.01,0.655000,2.860000,4.197000,0.999000,1.000000,1.000000,16.0184
missense_variant,GLYATL3,MISSENSE,NM_001010904.1:p.Ala118Asp/c.353C>A,gCc/gAc,MODERATE,COSM150101(4),0.177516,0.2073,rs9369905,0.2(T),0.139(B),2.54(M),-1.1047(T),,chr6,49489397,49489397,C,A,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala118Asp/c.353C>A|288|GLYATL3|protein_coding|CODING|NM_001010904.1|5|1),HUVEC:H3K27me3,,,,0.1759,0.1931,0.3439,,,,,,0.035(P),"2.05,2.05(T,T)",0.0472(T),0.978,2.816761,5.9,5.9,0.591000,2.800000,3.899000,0.620000,0.971000,0.993000,15.7685
missense_variant,GLYATL3,MISSENSE,NM_001010904.1:p.Asn161Asp/c.481A>G,Aat/Gat,MODERATE,COSM3762116(1),0.487021,0.4573,rs9367359,0.64(T),0.0(B),-1.445(N),-0.9238(T),,chr6,49494241,49494241,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn161Asp/c.481A>G|288|GLYATL3|protein_coding|CODING|NM_001010904.1|6|1),HUVEC:H3K27me3,,,,0.5613,0.3674,0.6322,0.59,0.45,0.64,,0.000033(N),1.000(P),2.75(T),0.0031(T),0.013,-0.991050,6.06,6.06,-0.119000,1.593000,3.040000,0.003000,0.589000,0.992000,11.5712
missense_variant,C6orf141,MISSENSE,NM_001145652.1:p.Gln137Glu/c.409C>G,Caa/Gaa,MODERATE,,0.980232,1,rs6919674,1(T),0.0(B),-0.695(N),-0.9405(T),,chr6,49518914,49518914,C,G,hom,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln137Glu/c.409C>G|244|C6orf141|protein_coding|CODING|NM_001145652.1|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,H1ESC:H4K5ac,NH-A:H3K4me3,HUVEC:H3K4me2,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,1,0.9928,0.999,0.98,0.95,1.00,,0.922667(N),1.000(P),1.88(T),0.0051(T),0.046,0.003026,4.79,-0.893,-0.187000,-0.285000,-1.555000,0.477000,0.000000,0.000000,4.5098
missense_variant,CRISP3,MISSENSE,NM_001190986.1:p.Ala157Ser/c.469G>T,Gca/Tca,MODERATE,COSM3762120(1),0.365615,0.3105,rs1864312,0.8(T),0.135(B),-0.21(N),-0.9593(T),,chr6,49701439,49701439,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala157Ser/c.469G>T|268|CRISP3|protein_coding|CODING|NM_001190986.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala147Ser/c.439G>T|258|CRISP3|protein_coding|CODING|NM_006061.2|5|1)","K562:H3K36me3,K562:DNase1",,,,0.3088,0.5821,0.4682,0.39,0.30,0.44,,0.684266(U),1.000(P),"3.23,3.23,3.23,3.23,3.23,3.23(T,T,T,T,T,T)",0.0039(T),0.52,0.592611,5.1,3.18,0.585000,1.146000,0.738000,0.009000,0.002000,0.000000,7.8096
missense_variant,CRISP3,MISSENSE,NM_001190986.1:p.Ser129Pro/c.385T>C,Tcc/Ccc,MODERATE,COSM3762121(2),0.67512,0.5476,rs495335,1(T),0.0(B),-1.43(N),-0.9802(T),,chr6,49701523,49701523,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser129Pro/c.385T>C|268|CRISP3|protein_coding|CODING|NM_001190986.1|5|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser119Pro/c.355T>C|258|CRISP3|protein_coding|CODING|NM_006061.2|5|1)","K562:H3K36me3,K562:DNase1",,,,0.6411,0.7594,0.6948,0.70,0.74,0.67,,0.004100(N),1.000(P),"3.06,3.06,3.06,0.91,3.06,3.06(T,T,T,T,T,T)",0.0096(T),0.321,-0.438361,5.1,5.1,-0.197000,1.156000,1.944000,0.001000,0.003000,0.021000,9.8183
missense_variant,PKHD1,MISSENSE,NM_138694.3:p.Gln4048Arg/c.12143A>G,cAa/cGa,MODERATE,,0.565695,0.6131,rs9381994,0.35(T),0.024(B),0.95(L),-0.8325(T),,chr6,51483961,51483961,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln4048Arg/c.12143A>G|4074|PKHD1|protein_coding|CODING|NM_138694.3|67|1),,,RCV000082526.1,,0.6585,0.6023,0.5487,0.53,0.48,0.55,,0.000358(D),0.000(P),-2.08(D),0.2486(T),0.13,1.457689,5.27,3.95,0.533000,2.128000,0.430000,0.266000,1.000000,0.634000,5.3886
missense_variant,PKHD1,MISSENSE,NM_138694.3:p.Gln3899Arg/c.11696A>G,cAg/cGg,MODERATE,COSM4004068(1),0.553315,0.5813,rs4715227,0.02(D),0.134(B),1.845(L),-0.4377(T),,chr6,51491884,51491884,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln3899Arg/c.11696A>G|4074|PKHD1|protein_coding|CODING|NM_138694.3|66|1),,,RCV000082522.1,,0.6442,0.5937,0.5358,0.52,0.48,0.55,,0.469060(N),0.000(P),-2.3(D),0.3916(T),0.065,1.237296,5.19,3.99,0.533000,1.048000,1.965000,0.169000,0.954000,0.981000,8.2376
synonymous_variant,PKHD1,SILENT,NM_138694.3:p.His3507His/c.10521C>T,caC/caT,LOW,COSM4004069(1),0.0656949,0.1339,rs34460237,,,,,,chr6,51524403,51524403,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His3507His/c.10521C>T|4074|PKHD1|protein_coding|CODING|NM_138694.3|61|1),,,RCV000082515.1,,0.0716,0.098,0.0517,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,PKHD1,SILENT,NM_138694.3:p.Gly2529Gly/c.7587G>A,ggG/ggA,LOW,COSM1179828(2),0.367612,0.1518,rs12210295,,,,,,chr6,51732807,51732807,C,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly2529Gly/c.7587G>A|4074|PKHD1|protein_coding|CODING|NM_138694.3|48|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly2529Gly/c.7587G>A|3396|PKHD1|protein_coding|CODING|NM_170724.2|48|1)",,,RCV000082571.1,,0.3947,0.4006,0.6213,0.54,0.35,0.63,,,,,,,,,,,,,,,,
missense_variant,PKHD1,MISSENSE,NM_138694.3:p.Leu1870Val/c.5608T>G,Ttg/Gtg,MODERATE,,0.955871,1,rs2435322,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9474(T),,chr6,51875250,51875250,A,C,hom,"missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu1870Val/c.5608T>G|4074|PKHD1|protein_coding|CODING|NM_138694.3|35|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu1870Val/c.5608T>G|3396|PKHD1|protein_coding|CODING|NM_170724.2|35|1)",,,RCV000082560.1,,1,0.9914,1,0.95,0.87,1.00,,0.000004(N),0.995(P),"-1.58,-1.85(D,D)",0.1153(T),0.021,-0.175481,5.63,5.63,-0.224000,1.396000,5.050000,0.993000,1.000000,1.000000,16.157
missense_variant,PKHD1,MISSENSE,NM_138694.3:p.Ala1262Val/c.3785C>T,gCt/gTt,MODERATE,COSM4004073(1),0.354633,0.381,rs9296669,0.42(T),"0.0,0.001(B,B)",-1.245(N),-0.9559(T),,chr6,51890823,51890823,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala1262Val/c.3785C>T|4074|PKHD1|protein_coding|CODING|NM_138694.3|32|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala1262Val/c.3785C>T|3396|PKHD1|protein_coding|CODING|NM_170724.2|32|1)","GM06990:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000082549.1,,0.3476,0.5879,0.502,0.39,0.15,0.52,,0.035426(N),1.000(P),"-2.01,-2.19(D,D)",0.0905(T),0.019,1.320491,5.52,-1.36,0.655000,-0.700000,0.265000,0.002000,0.000000,0.000000,0.7485
missense_variant,PKHD1,MISSENSE,NM_138694.3:p.Arg760Cys/c.2278C>T,Cgc/Tgc,MODERATE,,0.355831,0.4048,rs9370096,0.19(T),"0.004,0.002(B,B)",-0.57(N),-1.0133(T),,chr6,51914956,51914956,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg760Cys/c.2278C>T|4074|PKHD1|protein_coding|CODING|NM_138694.3|22|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg760Cys/c.2278C>T|3396|PKHD1|protein_coding|CODING|NM_170724.2|22|1),splice_region_variant(LOW|||c.2278C>T|4074|PKHD1|protein_coding|CODING|NM_138694.3|22|1),splice_region_variant(LOW|||c.2278C>T|3396|PKHD1|protein_coding|CODING|NM_170724.2|22|1)",GM12878:H3K27me3,,RCV000082536.1,,0.3129,0.6009,0.503,0.39,0.15,0.51,,0.101902(N),0.007(P),"-2.06,-2.27(D,D)",0.1196(T),0.081,2.230413,5.64,-6.31,-0.140000,-0.738000,-0.487000,0.875000,0.834000,0.003000,7.0585
synonymous_variant,PKHD1,SILENT,NM_138694.3:p.Asp395Asp/c.1185T>C,gaT/gaC,LOW,,0.958267,1,rs1896976,,,,,,chr6,51924774,51924774,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp395Asp/c.1185T>C|4074|PKHD1|protein_coding|CODING|NM_138694.3|15|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp395Asp/c.1185T>C|3396|PKHD1|protein_coding|CODING|NM_170724.2|15|1)",HUVEC:H3K27me3,,RCV000082524.1,,1,0.9914,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MCM3,SILENT,NM_002388.4:p.Gln281Gln/c.843G>A,caG/caA,LOW,COSM3762131(1),0.0263578,0,rs2307331,,,,,,chr6,52144221,52144221,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln246Gln/c.738G>A|818|MCM3|protein_coding|CODING|NM_001270472.1|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln281Gln/c.843G>A|853|MCM3|protein_coding|CODING|NM_002388.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.0274,0.0616,0.06,0.01,0.08,,,,,,,,,,,,,,,,
synonymous_variant,GSTA1,SILENT,NM_145740.3:p.Lys125Lys/c.375A>G,aaA/aaG,LOW,COSM4004077(2),0.228035,0.1369,rs1051775,,,,,,chr6,52658962,52658962,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys125Lys/c.375A>G|222|GSTA1|protein_coding|CODING|NM_145740.3|5|1),HMEC:H3K27me3,,,,0.3425,0.2695,0.4235,0.32,0.11,0.43,,,,,,,,,,,,,,,,
missense_variant,GSTA5,MISSENSE,NM_153699.1:p.Val55Ile/c.163G>A,Gta/Ata,MODERATE,,0.888578,0.8681,rs2397118,0.04(D),0.295(B),2.485(M),-1.1249(T),,chr6,52701143,52701143,C,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val55Ile/c.163G>A|222|GSTA5|protein_coding|CODING|NM_153699.1|4|1),"GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8415,0.9654,0.9473,0.93,0.87,0.96,,0.000028(D),0.039(P),"2.94,2.94(T,T)",0.0244(T),0.045,2.890114,2.63,2.63,0.205000,1.456000,4.168000,0.765000,1.000000,1.000000,10.6739
synonymous_variant,ELOVL5,SILENT,NM_001242831.1:p.Ala86Ala/c.258C>A,gcC/gcA,LOW,,0.0660942,0.0407,rs2294857,,,,,,chr6,53159090,53159090,G,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala86Ala/c.258C>A|88|ELOVL5|protein_coding|CODING|NM_001242831.1|3|1),intron_variant(MODIFIER|||c.58+1350C>A|326|ELOVL5|protein_coding|CODING|NM_001242828.1|2|1),intron_variant(MODIFIER|||c.58+1350C>A|262|ELOVL5|protein_coding|CODING|NM_001242830.1|2|1),intron_variant(MODIFIER|||c.58+1350C>A|299|ELOVL5|protein_coding|CODING|NM_021814.4|2|1)","NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.0266,0.2579,0.0765,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,KLHL31,SILENT,NM_001003760.4:p.Ile475Ile/c.1425A>C,atA/atC,LOW,COSM3749983(10),0.990415,1,rs6928338,,,,,,chr6,53516876,53516876,T,G,hom,synonymous_variant(LOW|SILENT|atA/atC|p.Ile475Ile/c.1425A>C|634|KLHL31|protein_coding|CODING|NM_001003760.4|3|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,GM06990:H3K27me3,HUVEC:Max,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HepG2:Nrsf,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:DNase1,HUVEC:Cmyc,HMEC:CTCF,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:Yy1,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,H1ESC:CTCF,HeLa-S3:E2F6",,,,1,0.9971,0.999,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KLHL31,SILENT,NM_001003760.4:p.Leu337Leu/c.1009T>C,Ttg/Ctg,LOW,,0.682308,0.6994,rs10948758,,,,,,chr6,53519062,53519062,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu337Leu/c.1009T>C|634|KLHL31|protein_coding|CODING|NM_001003760.4|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.7546,0.7723,0.7366,0.69,0.57,0.75,,,,,,,,,,,,,,,,
missense_variant,KLHL31,MISSENSE,NM_001003760.4:p.Val156Ile/c.466G>A,Gta/Ata,MODERATE,,0.861422,0.9157,rs3799260,0.44(T),0.197(B),1.425(L),-0.9103(T),,chr6,53519605,53519605,C,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val156Ile/c.466G>A|634|KLHL31|protein_coding|CODING|NM_001003760.4|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.9172,0.8732,0.7952,0.82,0.82,0.82,,0.000000(D),0.000(P),"-0.21,-0.21(T,T)",0.1535(T),0.162,2.227789,6.03,6.03,0.555000,2.868000,4.899000,0.995000,1.000000,1.000000,15.6123
synonymous_variant,KLHL31,SILENT,NM_001003760.4:p.Leu72Leu/c.214C>T,Cta/Tta,LOW,,0.490415,0.5982,rs12210809,,,,,,chr6,53519857,53519857,G,A,hom,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu72Leu/c.214C>T|634|KLHL31|protein_coding|CODING|NM_001003760.4|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:DNase1",,,,0.5787,0.6729,0.5924,0.48,0.24,0.61,,,,,,,,,,,,,,,,
missense_variant,MLIP,MISSENSE,NM_001281746.1:p.Arg6His/c.17G>A,cGt/cAt,MODERATE,,0.197085,0.0575,rs17625497,1(T),"0.0,0.0(B,B)",-1.5(N),-0.9412(T),,chr6,53883843,53883843,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg6His/c.17G>A|915|MLIP|protein_coding|CODING|NM_001281746.1|1|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg6His/c.17G>A|458|MLIP|protein_coding|CODING|NM_138569.2|1|1)",HSMM:DNase1,,,,0.1431,0.3991,0.2853,0.25,0.18,0.28,,0.810852(N),0.000(P),"2.21,1.86,1.85,1.86(T,T,T,T)",0.0048(T),0.075,0.120805,5.9,3.46,-0.295000,0.454000,3.751000,0.965000,1.000000,1.000000,7.5222
missense_variant,MLIP,MISSENSE,NM_001281747.1:p.Val170Ile/c.508G>A,Gtc/Atc,MODERATE,,0.615615,0.7331,rs4712056,,"0.025,0.007,0.014,0.037(B,B,B,B)",0.69(N),-1.0528(T),,chr6,53989526,53989526,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val159Ile/c.475G>A|915|MLIP|protein_coding|CODING|NM_001281746.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val170Ile/c.508G>A|993|MLIP|protein_coding|CODING|NM_001281747.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val159Ile/c.475G>A|458|MLIP|protein_coding|CODING|NM_138569.2|3|1)",,,,,0.7352,0.5115,0.6491,0.59,0.50,0.64,,0.396175(N),1.000(P),"1.4,1.4,1.4,1.4,1.4,1.4,1.4,1.4,1.4,1.4,1.4(T,T,T,T,T,T,T,T,T,T,T)",0.0137(T),0.194,0.629414,5.68,-7.97,-0.142000,-1.268000,-0.711000,0.005000,0.000000,0.000000,1.1271
missense_variant,MLIP,MISSENSE,NM_001281747.1:p.Glu455Ala/c.1364A>C,gAa/gCa,MODERATE,,0.304912,0.0833,rs2754779,0.51(T),"0.0,0.0,0.0(B,B,B)",,-0.9782(T),,chr6,54002231,54002231,A,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu444Ala/c.1331A>C|915|MLIP|protein_coding|CODING|NM_001281746.1|4|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu455Ala/c.1364A>C|993|MLIP|protein_coding|CODING|NM_001281747.1|4|1),intron_variant(MODIFIER|||c.613-11623A>C|458|MLIP|protein_coding|CODING|NM_138569.2|3|1)",,,,,0.1605,0.3501,0.2704,,,,,,1.000(P),"2.06,1.06,2.07(T,T,T)",0.0181(T),0.066,-1.337566,5.04,-1.38,-0.935000,-0.580000,-0.917000,0.080000,0.002000,0.000000,5.4706
missense_variant,MLIP,MISSENSE,NM_001281747.1:p.Ser855Thr/c.2563T>A,Tct/Act,MODERATE,,0.797324,0.8115,rs6934690,0.23(T),"0.831,0.6,0.09,0.831(P,P,B,P)",1.43(L),-1.0279(T),,chr6,54054686,54054686,T,A,hom,"missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser844Thr/c.2530T>A|915|MLIP|protein_coding|CODING|NM_001281746.1|10|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser855Thr/c.2563T>A|993|MLIP|protein_coding|CODING|NM_001281747.1|10|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser320Thr/c.958T>A|458|MLIP|protein_coding|CODING|NM_138569.2|9|1)",,,,,0.8763,0.8429,0.9205,0.85,0.68,0.94,,0.018658(N),1.000(P),"1.08,1.08,1.08,1.08,1.08,1.08,1.08,1.08,1.08(T,T,T,T,T,T,T,T,T)",0.0894(T),0.485,2.175836,5.52,4.29,0.482000,2.088000,0.789000,0.599000,0.702000,0.014000,8.0961
missense_variant,MLIP,MISSENSE,NM_001281746.1:p.Gly906Arg/c.2716G>A,Gga/Aga,MODERATE,,0.655152,0.7976,rs11757700,0(D),0.0(B),,-0.9615(T),,chr6,54079968,54079968,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly906Arg/c.2716G>A|915|MLIP|protein_coding|CODING|NM_001281746.1|12|1),intron_variant(MODIFIER|||c.2718+12937G>A|993|MLIP|protein_coding|CODING|NM_001281747.1|11|1),intron_variant(MODIFIER|||c.1113+12937G>A|458|MLIP|protein_coding|CODING|NM_138569.2|10|1)",,,,,0.7935,0.7392,0.8012,,,,,,1.000(P),1.76(T),0.0121(T),0.039,-0.367245,2.29,-3.75,-2.061000,-1.131000,-1.786000,0.000000,0.000000,0.000000,0.6046
missense_variant,TINAG,MISSENSE,NM_014464.3:p.Ser158Pro/c.472T>C,Tca/Cca,MODERATE,,0.737819,0.8472,rs1058768,1(T),0.0(B),-2.24(N),-0.9807(T),,chr6,54186147,54186147,T,C,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser158Pro/c.472T>C|476|TINAG|protein_coding|CODING|NM_014464.3|3|1),,,,,0.6319,0.6239,0.6968,0.70,0.78,0.66,,0.000198(N),0.000(P),"1.09,1.09,1.09(T,T,T)",0.0072(T),0.157,0.069084,5.53,5.53,-0.220000,1.357000,1.391000,0.792000,0.895000,0.839000,10.6392
missense_variant,TINAG,MISSENSE,NM_014464.3:p.Pro199Leu/c.596C>T,cCc/cTc,MODERATE,,0.109425,0.0446,rs41276062,0.3(T),0.794(P),1.95(M),-0.9513(T),,chr6,54191686,54191686,C,T,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro199Leu/c.596C>T|476|TINAG|protein_coding|CODING|NM_014464.3|4|1),,,,,0.1288,0.0663,0.1054,0.13,0.18,0.11,,0.094325(N),0.000(P),"0.85,0.85,0.85(T,T,T)",0.1575(T),0.198,3.394027,5.82,5.82,0.643000,2.751000,2.767000,0.387000,0.809000,0.019000,15.6145
missense_variant,TINAG,MISSENSE,NM_014464.3:p.Arg381His/c.1142G>A,cGt/cAt,MODERATE,,0.114417,0.0327,rs3195579,0.95(T),0.001(B),-1.435(N),-1.0641(T),,chr6,54219326,54219326,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg381His/c.1142G>A|476|TINAG|protein_coding|CODING|NM_014464.3|9|1),,,,,0.138,0.1124,0.1839,0.17,0.12,0.19,,0.120955(N),0.000(P),-1.76(D),0.0601(T),0.071,-0.322348,5.4,2.85,-0.290000,0.421000,3.531000,0.988000,0.594000,0.998000,8.295
synonymous_variant,FAM83B,SILENT,NM_001010872.2:p.Glu26Glu/c.78A>G,gaA/gaG,LOW,COSM4004082(3),0.340056,0.1488,rs1472679,,,,,,chr6,54735122,54735122,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu26Glu/c.78A>G|1011|FAM83B|protein_coding|CODING|NM_001010872.2|2|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3712,0.317,0.5149,0.47,0.40,0.51,,,,,,,,,,,,,,,,
missense_variant,HCRTR2,MISSENSE,NM_001526.3:p.Ile308Val/c.922A>G,Att/Gtt,MODERATE,,0.878794,0.9375,rs2653349,1(T),0.001(B),-0.545(N),-1.0413(T),,chr6,55142337,55142337,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile308Val/c.922A>G|444|HCRTR2|protein_coding|CODING|NM_001526.3|5|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3",,,,0.8661,0.8761,0.8161,0.82,0.88,0.79,,0.000000(N),0.998(P),1.36(T),0.0142(T),0.092,1.135918,6.06,6.06,-0.128000,1.590000,7.443000,0.990000,1.000000,1.000000,15.6848
missense_variant,GFRAL,MISSENSE,NM_207410.2:p.Arg33Cys/c.97C>T,Cgt/Tgt,MODERATE,COSM3762142(1),0.414936,0.3056,rs12199003,0.06(T),0.157(B),0(N),-1.0119(T),,chr6,55196587,55196587,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg33Cys/c.97C>T|394|GFRAL|protein_coding|CODING|NM_207410.2|2|1),,,,,0.6595,0.2594,0.3728,0.38,0.40,0.36,,0.448376(N),1.000(P),1.47(T),0.0120(T),0.122,0.138430,4.92,1.07,-0.518000,-0.047000,0.179000,0.009000,0.006000,0.000000,5.4581
missense_variant,GFRAL,MISSENSE,NM_207410.2:p.Ser387Pro/c.1159T>C,Tcg/Ccg,MODERATE,COSM1685468(1),0.691693,0.7956,rs9370418,1(T),0.0(B),-0.205(N),-1.0337(T),,chr6,55266625,55266625,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser387Pro/c.1159T>C|394|GFRAL|protein_coding|CODING|NM_207410.2|9|1),,,,,0.6616,0.8084,0.7266,0.69,0.59,0.74,,0.279796(N),1.000(P),1.35(T),0.0119(T),0.043,-2.463876,5.13,0.877,-0.226000,-0.414000,-0.654000,0.010000,0.000000,0.000000,8.7384
synonymous_variant,COL21A1,SILENT,NM_030820.3:p.Lys146Lys/c.438A>G,aaA/aaG,LOW,,0.690895,0.8631,rs2038149,,,,,,chr6,56044578,56044578,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys146Lys/c.438A>G|957|COL21A1|protein_coding|CODING|NM_030820.3|3|1),,,,,0.7587,0.5677,0.6272,0.64,0.64,0.65,,,,,,,,,,,,,,,,
missense_variant,DST,MISSENSE,NM_001144769.2:p.Ala5546Thr/c.16636G>A,Gca/Aca,MODERATE,,0.21865,0.2401,rs11758339,1(T),"0.002,0.0(B,B)",0.14(N),-0.9714(T),,chr6,56327849,56327849,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala5546Thr/c.16636G>A|5675|DST|protein_coding|CODING|NM_001144769.2|95|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala5408Thr/c.16222G>A|5537|DST|protein_coding|CODING|NM_001144770.1|93|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala5042Thr/c.15124G>A|5171|DST|protein_coding|CODING|NM_015548.4|82|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala5368Thr/c.16102G>A|5497|DST|protein_coding|CODING|NM_183380.3|92|1),intron_variant(MODIFIER|||n.34-21546G>A||RNU6-71P||NON_CODING|NR_046940.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3272,0.2507,0.2515,0.21,0.10,0.26,,,1.000(P),1.07(T),0.0149(T),0.001,1.295014,5.79,1.9,0.655000,0.335000,0.212000,0.993000,0.998000,0.923000,7.175
missense_variant,DST,MISSENSE,NM_001144769.2:p.Met3317Ile/c.9951G>A,atG/atA,MODERATE,,0.791534,0.7887,rs4715630,0.31(T),"0.0,0.0,0.001,0.0,0.0(B,B,B,B,B)",-1.05(N),-0.9973(T),,chr6,56417282,56417282,C,T,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met3317Ile/c.9951G>A|5675|DST|protein_coding|CODING|NM_001144769.2|55|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met3179Ile/c.9537G>A|5537|DST|protein_coding|CODING|NM_001144770.1|53|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met2813Ile/c.8439G>A|5171|DST|protein_coding|CODING|NM_015548.4|42|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met3139Ile/c.9417G>A|5497|DST|protein_coding|CODING|NM_183380.3|52|1),intron_variant(MODIFIER|||n.34-110979G>A||RNU6-71P||NON_CODING|NR_046940.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6708,0.7608,0.7485,0.79,0.91,0.74,,0.001057(N),1.000(P),"1.38,1.38,1.38,1.38,1.38,1.38,1.38(T,T,T,T,T,T,T)",0.0066(T),0.127,0.999945,6.17,-8.74,-0.254000,-1.759000,-0.393000,0.865000,0.203000,0.001000,5.2407
missense_variant,DST,MISSENSE,NM_001144769.2:p.Thr3230Ala/c.9688A>G,Acc/Gcc,MODERATE,COSM1445315(1),0.662141,0.6488,rs4715631,1(T),"0.003,0.005,0.02,0.003,0.003(B,B,B,B,B)",1.065(L),-0.9732(T),,chr6,56417545,56417545,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr3230Ala/c.9688A>G|5675|DST|protein_coding|CODING|NM_001144769.2|55|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr3092Ala/c.9274A>G|5537|DST|protein_coding|CODING|NM_001144770.1|53|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr2726Ala/c.8176A>G|5171|DST|protein_coding|CODING|NM_015548.4|42|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr3052Ala/c.9154A>G|5497|DST|protein_coding|CODING|NM_183380.3|52|1),intron_variant(MODIFIER|||n.34-111242A>G||RNU6-71P||NON_CODING|NR_046940.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6401,0.7233,0.7247,0.68,0.64,0.70,,0.011480(N),0.999(P),"1.58,1.58,1.58,1.58,1.58,1.58,1.58(T,T,T,T,T,T,T)",0.0154(T),0.397,0.699473,6.06,2.39,0.533000,0.184000,2.720000,0.935000,0.143000,1.000000,8.5533
missense_variant,DST,MISSENSE,NM_001144769.2:p.Arg2795His/c.8384G>A,cGt/cAt,MODERATE,,0.335463,0.3482,rs11756977,0.3(T),"0.001,0.002,0.001,0.0,0.0(B,B,B,B,B)",-1.61(N),-1.0121(T),,chr6,56420538,56420538,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2795His/c.8384G>A|5675|DST|protein_coding|CODING|NM_001144769.2|54|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2657His/c.7970G>A|5537|DST|protein_coding|CODING|NM_001144770.1|52|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2291His/c.6872G>A|5171|DST|protein_coding|CODING|NM_015548.4|41|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2617His/c.7850G>A|5497|DST|protein_coding|CODING|NM_183380.3|51|1),intron_variant(MODIFIER|||n.34-114235G>A||RNU6-71P||NON_CODING|NR_046940.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3558,0.2767,0.2744,0.31,0.35,0.30,,0.000027(N),1.000(P),"1.32,1.29,1.29,1.29,1.32,1.29,1.29(T,T,T,T,T,T,T)",0.0097(T),0.318,2.144711,5.67,5.67,-0.254000,1.083000,1.649000,0.986000,0.957000,0.966000,9.192
missense_variant,DST,MISSENSE,NM_001144769.2:p.Gln1812Arg/c.5435A>G,cAg/cGg,MODERATE,,0.328275,0.254,rs4712138,0.5(T),"0.001,0.009,0.005,0.0,0.003(B,B,B,B,B)",1.95(M),-1.1042(T),,chr6,56463410,56463410,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1812Arg/c.5435A>G|5675|DST|protein_coding|CODING|NM_001144769.2|40|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1674Arg/c.5021A>G|5537|DST|protein_coding|CODING|NM_001144770.1|38|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1308Arg/c.3923A>G|5171|DST|protein_coding|CODING|NM_015548.4|27|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1634Arg/c.4901A>G|5497|DST|protein_coding|CODING|NM_183380.3|37|1),intron_variant(MODIFIER|||n.33+151696A>G||RNU6-71P||NON_CODING|NR_046940.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2802,0.3804,0.3837,0.38,0.36,0.39,,0.966933(N),1.000(P),"0.73,0.73,0.73,0.73,0.73,0.73,0.73,0.73(T,T,T,T,T,T,T,T)",0.0307(T),0.054,1.435997,5.9,-11.8,-0.790000,-3.140000,-0.337000,0.802000,0.000000,0.449000,6.5803
missense_variant,DST,MISSENSE,NM_001723.5:p.Val2011Leu/c.6031G>C,Gtt/Ctt,MODERATE,COSM4004105(2),0.401757,0.2669,rs6459166,0.49(T),0.0(B),,-0.9750(T),,chr6,56482801,56482801,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val2011Leu/c.6031G>C|2649|DST|protein_coding|CODING|NM_001723.5|23|1),intron_variant(MODIFIER|||n.33+132305G>C||RNU6-71P||NON_CODING|NR_046940.1|1|1),intron_variant(MODIFIER|||c.4831-3519G>C|5675|DST|protein_coding|CODING|NM_001144769.2|35|1),intron_variant(MODIFIER|||c.4417-3519G>C|5537|DST|protein_coding|CODING|NM_001144770.1|33|1),intron_variant(MODIFIER|||c.3319-3519G>C|5171|DST|protein_coding|CODING|NM_015548.4|22|1),intron_variant(MODIFIER|||c.4297-3519G>C|5497|DST|protein_coding|CODING|NM_183380.3|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.4063,0.3976,0.47,0.55,0.43,,,1.000(P),2.63(T),0.0099(T),0.033,-0.571209,5.49,5.49,-0.224000,1.332000,1.942000,0.954000,0.999000,1.000000,12.8068
synonymous_variant,DST,SILENT,NM_001723.5:p.Lys1358Lys/c.4074G>A,aaG/aaA,LOW,COSM4004107(1),0.336462,0.2034,rs2230862,,,,,,chr6,56484758,56484758,C,T,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1358Lys/c.4074G>A|2649|DST|protein_coding|CODING|NM_001723.5|23|1),intron_variant(MODIFIER|||n.33+130348G>A||RNU6-71P||NON_CODING|NR_046940.1|1|1),intron_variant(MODIFIER|||c.4830+4570G>A|5675|DST|protein_coding|CODING|NM_001144769.2|35|1),intron_variant(MODIFIER|||c.4416+4570G>A|5537|DST|protein_coding|CODING|NM_001144770.1|33|1),intron_variant(MODIFIER|||c.3318+4570G>A|5171|DST|protein_coding|CODING|NM_015548.4|22|1),intron_variant(MODIFIER|||c.4296+4570G>A|5497|DST|protein_coding|CODING|NM_183380.3|32|1)","H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2301,0.3746,0.3946,0.42,0.44,0.42,,,,,,,,,,,,,,,,
missense_variant,KIAA1586,MISSENSE,NM_020931.3:p.Val81Met/c.241G>A,Gtg/Atg,MODERATE,COSM3762147(1),0.217452,0.131,rs6926980,0.4(T),"0.015,0.015(B,B)",0(N),-0.9550(T),,chr6,56917538,56917538,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val54Met/c.160G>A|760|KIAA1586|protein_coding|CODING|NM_001286274.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val14Met/c.40G>A|720|KIAA1586|protein_coding|CODING|NM_001286275.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val14Met/c.40G>A|720|KIAA1586|protein_coding|CODING|NM_001286276.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val81Met/c.241G>A|787|KIAA1586|protein_coding|CODING|NM_020931.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.1844,0.2406,0.27,0.34,0.23,,,1.000(P),"1.16,1.15(T,T)",0.0144(T),0.051,-0.278949,3.34,-2.07,-1.708000,-0.806000,-0.165000,0.786000,0.701000,0.974000,9.0375
missense_variant,KIAA1586,MISSENSE,NM_020931.3:p.Ile716Val/c.2146A>G,Ata/Gta,MODERATE,,0.0922524,0.0893,rs61740375,0.64(T),"0.039,0.039(B,B)",0(N),-0.9130(T),,chr6,56919443,56919443,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile689Val/c.2065A>G|760|KIAA1586|protein_coding|CODING|NM_001286274.1|3|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile649Val/c.1945A>G|720|KIAA1586|protein_coding|CODING|NM_001286275.1|4|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile649Val/c.1945A>G|720|KIAA1586|protein_coding|CODING|NM_001286276.1|4|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile716Val/c.2146A>G|787|KIAA1586|protein_coding|CODING|NM_020931.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0675,0.0865,0.0944,0.09,0.10,0.08,,,1.000(P),"2.01,2.01(T,T)",0.0074(T),0.05,0.397023,3.23,2.04,-0.290000,0.431000,1.205000,0.946000,1.000000,1.000000,5.301
synonymous_variant,ZNF451,SILENT,NM_001031623.2:p.Leu683Leu/c.2047C>T,Ctg/Ttg,LOW,COSM3762150(1),0.21885,0.131,rs3734738,,,,,,chr6,57012930,57012930,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu683Leu/c.2047C>T|1061|ZNF451|protein_coding|CODING|NM_001031623.2|10|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu683Leu/c.2047C>T|1013|ZNF451|protein_coding|CODING|NM_015555.2|10|1),intron_variant(MODIFIER|||n.234+22873G>A||LOC101927211||NON_CODING|NR_110742.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.1888,0.2416,0.27,0.34,0.23,,,,,,,,,,,,,,,,
missense_variant,RAB23,MISSENSE,NM_001278666.1:p.Gly207Ser/c.619G>A,Ggt/Agt,MODERATE,,0.115415,0.0883,rs1040461,1(T),0.0(B),-0.805(N),-1.0707(T),,chr6,57055354,57055354,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly207Ser/c.619G>A|237|RAB23|protein_coding|CODING|NM_001278666.1|7|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly207Ser/c.619G>A|237|RAB23|protein_coding|CODING|NM_001278667.1|7|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly207Ser/c.619G>A|237|RAB23|protein_coding|CODING|NM_001278668.1|7|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly207Ser/c.619G>A|237|RAB23|protein_coding|CODING|NM_016277.4|7|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly207Ser/c.619G>A|237|RAB23|protein_coding|CODING|NM_183227.2|7|1),non_coding_exon_variant(MODIFIER|||n.478G>A||RAB23||CODING|NR_103822.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0675,0.0937,0.0944,0.12,0.18,0.08,,0.000000(N),1.000(P),"-0.06,-0.06(T,T)",0.0291(T),0.05,0.832163,5.79,5.79,-0.521000,1.029000,4.015000,0.933000,1.000000,1.000000,11.9425
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Glu181Lys/c.541G>A,Gag/Aag,MODERATE,,,,rs5011403,,,,,,chr6,57244780,57244780,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu181Lys/c.541G>A|509|PRIM2|protein_coding|CODING|NM_000947.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Asp204Gly/c.611A>G,gAt/gGt,MODERATE,,,,rs6913546,,,,,,chr6,57246884,57246884,A,G,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp204Gly/c.611A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|7|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Ser259Gly/c.775A>G,Agc/Ggc,MODERATE,,,,rs927192,,,,,,chr6,57393125,57393125,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser259Gly/c.775A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|9|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRIM2,SILENT,NM_000947.4:p.Lys270Lys/c.810G>A,aaG/aaA,LOW,COSM1131819(4),,,rs76686926,,,,,,chr6,57393160,57393160,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys270Lys/c.810G>A|509|PRIM2|protein_coding|CODING|NM_000947.4|9|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Leu286Pro/c.857T>C,cTt/cCt,MODERATE,,,,rs80081867,,,,,,chr6,57398154,57398154,T,C,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu286Pro/c.857T>C|509|PRIM2|protein_coding|CODING|NM_000947.4|10|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Tyr287Cys/c.860A>G,tAc/tGc,MODERATE,,,,rs9476080,,,,,,chr6,57398157,57398157,A,G,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr287Cys/c.860A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|10|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.His289Arg/c.866A>G,cAt/cGt,MODERATE,,,,rs9476081,,,,,,chr6,57398163,57398163,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His289Arg/c.866A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|10|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Cys302Arg/c.904T>C,Tgt/Cgt,MODERATE,,,,rs62398997,,,,,,chr6,57398201,57398201,T,C,het,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys302Arg/c.904T>C|509|PRIM2|protein_coding|CODING|NM_000947.4|10|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Val310Asp/c.929T>A,gTc/gAc,MODERATE,,,,rs77436138,,,,,,chr6,57398226,57398226,T,A,het,missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val310Asp/c.929T>A|509|PRIM2|protein_coding|CODING|NM_000947.4|10|1),"IMR90:H3K36me3,HepG2:H3K36me3",,RCV000067430.2,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Thr323Ala/c.967A>G,Aca/Gca,MODERATE,,,,rs62398998,,,,,,chr6,57398264,57398264,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr323Ala/c.967A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|10|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
stop_gained,PRIM2,NONSENSE,NM_000947.4:p.Gln325*/c.973C>T,Cag/Tag,HIGH,COSM4161300(1),,,rs62398999,,,,,PRIM2:0.33(3);PRIM2:0.33(3);,chr6,57398270,57398270,C,T,het,stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln325*/c.973C>T|509|PRIM2|protein_coding|CODING|NM_000947.4|10|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Asp342Gly/c.1025A>G,gAt/gGt,MODERATE,COSM150112(1),,,rs9885913,,,,,,chr6,57467084,57467084,A,G,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp342Gly/c.1025A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|11|1),"H1ESC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Tyr345Cys/c.1034A>G,tAc/tGc,MODERATE,COSM150113(1),,,rs9885916,,,,,,chr6,57467093,57467093,A,G,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr345Cys/c.1034A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|11|1),"H1ESC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
stop_lost,PRIM2,MISSENSE,NM_000947.4:p.Ter347Tyrext*?/c.1041G>C,taG/taC,HIGH,,,,rs4535533,,,,,,chr6,57467100,57467100,G,C,het,stop_lost(HIGH|MISSENSE|taG/taC|p.Ter347Tyrext*?/c.1041G>C|509|PRIM2|protein_coding|CODING|NM_000947.4|11|1),"H1ESC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Arg350Cys/c.1048C>T,Cgt/Tgt,MODERATE,COSM150114(1),,,rs9885751,,,,,,chr6,57467107,57467107,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg350Cys/c.1048C>T|509|PRIM2|protein_coding|CODING|NM_000947.4|11|1),"H1ESC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRIM2,SILENT,NM_000947.4:p.Leu372Leu/c.1116A>G,ctA/ctG,LOW,,,,rs4406234,,,,,,chr6,57467175,57467175,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu372Leu/c.1116A>G|509|PRIM2|protein_coding|CODING|NM_000947.4|11|1),"H1ESC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Gly435Asp/c.1304G>A,gGt/gAt,MODERATE,,,,rs4307164,,,,,,chr6,57512476,57512476,G,A,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly435Asp/c.1304G>A|509|PRIM2|protein_coding|CODING|NM_000947.4|14|1),"H1ESC:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.His446Gln/c.1338T>G,caT/caG,MODERATE,,0.629193,0.4514,rs4294007,,,,,,chr6,57512510,57512510,T,G,hom,missense_variant(MODERATE|MISSENSE|caT/caG|p.His446Gln/c.1338T>G|509|PRIM2|protein_coding|CODING|NM_000947.4|14|1),"H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.6677,0.5115,0.5905,,,,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Arg453Ser/c.1357C>A,Cgt/Agt,MODERATE,,,,rs5001076,,,,,,chr6,57512529,57512529,C,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg453Ser/c.1357C>A|509|PRIM2|protein_coding|CODING|NM_000947.4|14|1),"H1ESC:H3K36me3,HepG2:H3K36me3",,,,,,,0.36,0.37,0.35,,,,,,,,,,,,,,,,
missense_variant,PRIM2,MISSENSE,NM_000947.4:p.Ser465Pro/c.1393T>C,Tct/Cct,MODERATE,,,,rs4294008,,,,,,chr6,57512565,57512565,T,C,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser465Pro/c.1393T>C|509|PRIM2|protein_coding|CODING|NM_000947.4|14|1),"H1ESC:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRIM2,SILENT,NM_000947.4:p.Glu502Glu/c.1506G>A,gaG/gaA,LOW,,,,rs4398719,,,,,,chr6,57512678,57512678,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu502Glu/c.1506G>A|509|PRIM2|protein_coding|CODING|NM_000947.4|14|1),"H1ESC:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KHDRBS2,SILENT,NM_152688.2:p.Gln334Gln/c.1002A>G,caA/caG,LOW,,0.610024,0.6974,rs1204114,,,,,,chr6,62390916,62390916,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln334Gln/c.1002A>G|349|KHDRBS2|protein_coding|CODING|NM_152688.2|9|1),,,,,0.681,0.6758,0.7187,0.60,0.42,0.69,,,,,,,,,,,,,,,,
synonymous_variant,KHDRBS2,SILENT,NM_152688.2:p.Tyr292Tyr/c.876T>C,taT/taC,LOW,COSM3762151(1),0.390775,0.3046,rs10484690,,,,,,chr6,62442604,62442604,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr292Tyr/c.876T>C|349|KHDRBS2|protein_coding|CODING|NM_152688.2|7|1),,,,,0.3272,0.3242,0.2813,0.40,0.57,0.31,,,,,,,,,,,,,,,,
missense_variant,PHF3,MISSENSE,NM_015153.3:p.Val525Ile/c.1573G>A,Gtc/Atc,MODERATE,,0.00678914,0.001,rs34288820,0.1(T),"0.112,0.453(B,P)",1.7(L),-0.9940(T),,chr6,64395196,64395196,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val437Ile/c.1309G>A|1951|PHF3|protein_coding|CODING|NM_001290259.1|5|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val525Ile/c.1573G>A|2039|PHF3|protein_coding|CODING|NM_015153.3|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val525Ile/c.1573G>A|736|PHF3|protein_coding|CODING|NM_001290260.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0101,0.0249,0.02,0.00,0.03,,0.002916(N),0.993(N),"2.0,1.67,2.04,1.69,0.7,2.04(T,T,T,T,T,T)",0.0812(T),0.14,0.818522,5.98,5.98,0.591000,2.838000,1.113000,0.851000,0.985000,1.000000,11.566
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Arg2326Gln/c.6977G>A,cGa/cAa,MODERATE,,0.349641,0.3313,rs4710457,,,0.345(N),-1.1285(T),,chr6,64694354,64694354,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2326Gln/c.6977G>A|3144|EYS|protein_coding|CODING|NM_001142800.1|35|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2326Gln/c.6977G>A|3165|EYS|protein_coding|CODING|NM_001292009.1|35|1)",,,RCV000079545.1,,0.3753,0.2651,0.3439,0.36,0.38,0.35,,,1.000(P),,0.0858(T),.,0.948865,5.23,0.33,-0.136000,-0.166000,-0.038000,0.018000,0.008000,0.000000,8.9241
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Leu1873Val/c.5617C>G,Ctg/Gtg,MODERATE,,0.091254,0.1567,rs16895517,0.37(T),"0.001,0.0(B,B)",0(N),-1.1194(T),,chr6,65300143,65300143,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu1873Val/c.5617C>G|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu1873Val/c.5617C>G|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079543.1,,0.1135,0.1167,0.0984,0.11,0.03,0.14,,,1.000(P),"-1.88,-1.85,-1.85(D,D,D)",0.1397(T),0.018,-1.981510,5.96,1.96,-0.795000,-0.138000,-0.025000,0.406000,0.000000,0.000000,6.1373
synonymous_variant,EYS,SILENT,NM_001292009.1:p.Glu1531Glu/c.4593G>A,gaG/gaA,LOW,,0.0938498,0.1567,rs62415825,,,,,,chr6,65301167,65301167,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1531Glu/c.4593G>A|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1531Glu/c.4593G>A|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079540.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Ser1517Gly/c.4549A>G,Agt/Ggt,MODERATE,COSM4161305(1),0.0938498,0.1567,rs62415826,0.38(T),"0.0,0.0(B,B)",0(N),-1.1298(T),,chr6,65301211,65301211,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser1517Gly/c.4549A>G|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser1517Gly/c.4549A>G|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079539.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,1.000(P),"-1.8,-1.78,-1.78(D,D,D)",0.1206(T),0.029,-3.258870,5.84,2.04,-1.290000,-0.104000,-0.336000,0.001000,0.000000,0.000000,7.0495
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Arg1515Trp/c.4543C>T,Cgg/Tgg,MODERATE,COSM4161306(1),0.0938498,0.1567,rs62415827,0(D),"0.731,0.424(P,B)",0(N),-0.7534(T),,chr6,65301217,65301217,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1515Trp/c.4543C>T|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1515Trp/c.4543C>T|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079538.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,1.000(P),"-1.93,-1.91,-1.91(D,D,D)",0.2496(T),0.179,1.236237,5.84,0.078,0.591000,0.053000,0.330000,0.102000,0.000000,0.001000,4.5724
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Ile1451Thr/c.4352T>C,aTa/aCa,MODERATE,,0.0940495,0.1567,rs62415828,1(T),"0.0,0.0(B,B)",0(N),-1.0711(T),,chr6,65301408,65301408,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile1451Thr/c.4352T>C|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile1451Thr/c.4352T>C|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079537.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,1.000(P),"-1.86,-1.84,-1.84(D,D,D)",0.0979(T),0.015,-2.112469,5.74,0.462,-0.186000,0.069000,0.108000,0.622000,0.023000,0.906000,3.308
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Leu1419Ser/c.4256T>C,tTa/tCa,MODERATE,,0.78155,0.6488,rs624851,0.24(T),"0.015,0.007(B,B)",0(N),-1.1204(T),,chr6,65301504,65301504,A,G,het,"missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu1419Ser/c.4256T>C|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu1419Ser/c.4256T>C|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079536.1,,0.7761,0.7867,0.6521,0.77,0.94,0.70,,,1.000(P),"-1.98,-1.96,-1.96(D,D,D)",0.1445(T),0.03,-3.294192,5.52,0.375,-1.290000,-0.433000,1.039000,0.091000,0.000000,0.694000,6.5738
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Ile1361Val/c.4081A>G,Att/Gtt,MODERATE,,0.0938498,0.1567,rs17403955,0.29(T),"0.003,0.001(B,B)",0(N),-1.0824(T),,chr6,65301679,65301679,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1361Val/c.4081A>G|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1361Val/c.4081A>G|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079535.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,1.000(P),"-1.68,-1.66,-1.66(D,D,D)",0.0964(T),0.029,-0.195780,5.74,-1.16,0.482000,-0.414000,0.161000,0.023000,0.000000,0.000000,0.8356
synonymous_variant,EYS,SILENT,NM_001292009.1:p.Ser1342Ser/c.4026C>T,tcC/tcT,LOW,,0.0938498,0.1567,rs12663619,,,,,,chr6,65301734,65301734,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1342Ser/c.4026C>T|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1342Ser/c.4026C>T|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079534.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Gln1325Glu/c.3973C>G,Caa/Gaa,MODERATE,COSM150116(1),0.0938498,0.1567,rs12663622,0.68(T),"0.0,0.0(B,B)",0(N),-1.1198(T),,chr6,65301787,65301787,G,C,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1325Glu/c.3973C>G|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1325Glu/c.3973C>G|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079533.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,1.000(P),"-1.59,-1.58,-1.58(D,D,D)",0.0960(T),0.058,-1.398118,5.62,-2.6,-1.622000,-1.430000,-1.151000,0.000000,0.000000,0.000000,8.1349
synonymous_variant,EYS,SILENT,NM_001292009.1:p.Thr1312Thr/c.3936A>G,acA/acG,LOW,,0.0966454,0.1567,rs12662610,,,,,,chr6,65301824,65301824,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1312Thr/c.3936A>G|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1312Thr/c.3936A>G|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079532.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,,,,,,,,,,,,,,
synonymous_variant,EYS,SILENT,NM_001292009.1:p.His1302His/c.3906C>T,caC/caT,LOW,,0.0938498,0.1567,rs12663916,,,,,,chr6,65301854,65301854,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His1302His/c.3906C>T|3144|EYS|protein_coding|CODING|NM_001142800.1|26|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1302His/c.3906C>T|3165|EYS|protein_coding|CODING|NM_001292009.1|26|1)",,,RCV000079531.1,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Ile1263Val/c.3787A>G,Att/Gtt,MODERATE,COSM150117(1),0.0938498,0.1567,rs17404123,0.67(T),"0.0,0.0(B,B)",-0.55(N),-1.1152(T),,chr6,65303100,65303100,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1263Val/c.3787A>G|3144|EYS|protein_coding|CODING|NM_001142800.1|25|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1263Val/c.3787A>G|3165|EYS|protein_coding|CODING|NM_001292009.1|25|1)",,,,,0.1135,0.1182,0.0984,0.11,0.04,0.14,,,1.000(P),"-1.48,-1.47,-1.47(T,T,T)",0.0585(T),0.022,-1.504790,4.73,0.768,-0.808000,-0.446000,-0.096000,0.004000,0.000000,0.000000,1.9789
synonymous_variant,EYS,SILENT,NM_001292009.1:p.Leu1211Leu/c.3633C>G,ctC/ctG,LOW,,,,,,,,,,chr6,65327362,65327362,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1211Leu/c.3633C>G|3144|EYS|protein_coding|CODING|NM_001142800.1|24|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1211Leu/c.3633C>G|3165|EYS|protein_coding|CODING|NM_001292009.1|24|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,EYS,SILENT,NM_001292009.1:p.Asn911Asn/c.2733T>C,aaT/aaC,LOW,COSM3697932(1),0.0161741,0,rs75634595,,,,,,chr6,65612302,65612302,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn911Asn/c.2733T>C|3144|EYS|protein_coding|CODING|NM_001142800.1|17|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn911Asn/c.2733T>C|3165|EYS|protein_coding|CODING|NM_001292009.1|17|1)",,,,,0.0378,0.0115,0.0298,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,EYS,MISSENSE,NM_001292009.1:p.Gly631Ser/c.1891G>A,Ggt/Agt,MODERATE,,0.595048,0.8948,rs9342464,0.01(D),0.001(B),0(N),-1.0894(T),,chr6,66005888,66005888,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly631Ser/c.1891G>A|3144|EYS|protein_coding|CODING|NM_001142800.1|12|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly631Ser/c.1891G>A|3165|EYS|protein_coding|CODING|NM_001292009.1|12|1)",,,,,0.7086,0.7161,0.5924,0.50,0.30,0.58,,,1.000(P),"-1.46,-1.46,-1.46(T,T,T)",0.1142(T),0.035,-0.060638,5.48,1.71,-1.556000,0.054000,2.140000,0.010000,0.025000,0.005000,6.0161
synonymous_variant,EYS,SILENT,NM_001292009.1:p.Val603Val/c.1809C>T,gtC/gtT,LOW,,0.594848,0.8948,rs9345601,,,,,,chr6,66005970,66005970,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val603Val/c.1809C>T|3144|EYS|protein_coding|CODING|NM_001142800.1|12|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val603Val/c.1809C>T|3165|EYS|protein_coding|CODING|NM_001292009.1|12|1)",,,,,0.7086,0.7161,0.5915,0.50,0.30,0.58,,,,,,,,,,,,,,,,
synonymous_variant,EYS,SILENT,NM_001292009.1:p.Asn382Asn/c.1146T>C,aaT/aaC,LOW,COSM3762156(2),0.50599,0.4554,rs974110,,,,,,chr6,66112409,66112409,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn382Asn/c.1146T>C|3144|EYS|protein_coding|CODING|NM_001142800.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn382Asn/c.1146T>C|619|EYS|protein_coding|CODING|NM_001142801.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn382Asn/c.1146T>C|3165|EYS|protein_coding|CODING|NM_001292009.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn382Asn/c.1146T>C|594|EYS|protein_coding|CODING|NM_198283.1|6|1)",,,,,0.5143,0.5072,0.5388,0.53,0.53,0.53,,,,,,,,,,,,,,,,
missense_variant,BAI3,MISSENSE,NM_001704.2:p.Asn503Ser/c.1508A>G,aAt/aGt,MODERATE,,0.905351,0.9226,rs1932618,1(T),0.005(B),1.37(L),-1.0714(T),,chr6,69666684,69666684,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn503Ser/c.1508A>G|1522|BAI3|protein_coding|CODING|NM_001704.2|8|1),,,,,0.9417,0.8977,0.8569,0.88,0.92,0.86,,0.000000(N),0.000(P),0.67(T),0.0381(T),0.053,0.208650,5.19,5.19,-0.128000,1.347000,6.443000,0.923000,1.000000,1.000000,10.5237
synonymous_variant,BAI3,SILENT,NM_001704.2:p.Ser1174Ser/c.3522G>A,tcG/tcA,LOW,COSM150119(2),0.180511,0.121,rs2296974,,,,,,chr6,70064187,70064187,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1174Ser/c.3522G>A|1522|BAI3|protein_coding|CODING|NM_001704.2|27|1),,,,,0.092,0.2421,0.1909,0.22,0.26,0.20,,,,,,,,,,,,,,,,
missense_variant,LMBRD1,MISSENSE,NM_018368.3:p.Asp469Glu/c.1407T>A,gaT/gaA,MODERATE,COSM3762158(1),0.384784,0.5645,rs12648,0.94(T),0.009(B),0.515(N),-0.9215(T),,chr6,70407465,70407465,A,T,hom,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp469Glu/c.1407T>A|540|LMBRD1|protein_coding|CODING|NM_018368.3|14|1),"HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4734,0.4337,0.4324,0.32,0.15,0.40,,0.000004(D),0.003(P),"2.32,2.32(T,T)",0.0065(T),0.057,2.403229,5.71,1.99,-0.263000,0.111000,3.360000,0.964000,1.000000,1.000000,6.3237
synonymous_variant,COL19A1,SILENT,NM_001858.5:p.Gly762Gly/c.2286C>T,ggC/ggT,LOW,COSM3762159(2),0.514776,0.3145,rs2229799,,,,,,chr6,70866609,70866609,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly762Gly/c.2286C>T|1142|COL19A1|protein_coding|CODING|NM_001858.5|34|1),GM12878:H3K36me3,,,,0.5276,0.5101,0.4742,0.53,0.66,0.47,,,,,,,,,,,,,,,,
synonymous_variant,COL19A1,SILENT,NM_001858.5:p.Pro1113Pro/c.3339A>C,ccA/ccC,LOW,COSM4161316(1),0.758786,0.6974,rs1200576,,,,,,chr6,70916888,70916888,A,C,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1113Pro/c.3339A>C|1142|COL19A1|protein_coding|CODING|NM_001858.5|51|1),NHEK:H3K27me3,,,,0.6902,0.8559,0.7107,0.76,0.82,0.73,,,,,,,,,,,,,,,,
missense_variant,COL9A1,MISSENSE,NM_001851.4:p.Gln621Arg/c.1862A>G,cAg/cGg,MODERATE,COSM3762160(3),0.326677,0.2917,rs1135056,0.76(T),"0.003,0.001,0.001(B,B,B)",-0.14(N),-0.6838(T),,chr6,70961833,70961833,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln621Arg/c.1862A>G|921|COL9A1|protein_coding|CODING|NM_001851.4|28|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln378Arg/c.1133A>G|678|COL9A1|protein_coding|CODING|NM_078485.3|22|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.2607,0.2522,0.4274,0.39,0.35,0.41,,0.000665(N),0.000(P),"-3.18,-3.18,-3.18(D,D,D)",0.3385(T),0.019,0.373878,5.79,4.93,-0.132000,1.459000,1.631000,0.125000,0.972000,0.038000,13.1203
missense_variant,FAM135A,MISSENSE,NM_001162529.1:p.Asp1242Gly/c.3725A>G,gAt/gGt,MODERATE,COSM3762169(1),0.339257,0.5427,rs2747701,0.04(D),"0.109,0.157,0.075,0.047,0.157(B,B,B,B,B)",2.075(M),-1.0981(T),,chr6,71238105,71238105,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp1046Gly/c.3137A>G|1319|FAM135A|protein_coding|CODING|NM_001105531.2|16|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp1242Gly/c.3725A>G|1515|FAM135A|protein_coding|CODING|NM_001162529.1|14|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp1029Gly/c.3086A>G|1302|FAM135A|protein_coding|CODING|NM_020819.4|15|1)",K562:H3K36me3,,,,0.4847,0.2507,0.4761,0.35,0.09,0.48,,0.000093(N),0.000(P),"2.16,2.16,1.85,2.16,2.16,2.15(T,T,T,T,T,T)",0.0359(T),0.088,1.872457,4.92,3.77,0.482000,0.843000,6.153000,0.305000,0.723000,1.000000,10.304
missense_variant,SMAP1,MISSENSE,NM_001281439.1:p.Met416Thr/c.1247T>C,aTg/aCg,MODERATE,COSM4004116(1),0.417532,0.3026,rs576516,1(T),0.0(B),,-0.9774(T),,chr6,71569090,71569090,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met416Thr/c.1247T>C|436|SMAP1|protein_coding|CODING|NM_001281439.1|10|1),downstream_gene_variant(MODIFIER||1979||323|B3GAT2|protein_coding|CODING|NM_080742.2||1),intron_variant(MODIFIER|||c.1270-813T>C|467|SMAP1|protein_coding|CODING|NM_001044305.2|10|1),intron_variant(MODIFIER|||c.1240-813T>C|457|SMAP1|protein_coding|CODING|NM_001281440.1|10|1),intron_variant(MODIFIER|||c.1189-813T>C|440|SMAP1|protein_coding|CODING|NM_021940.4|9|1)","HSMM:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.4284,0.5793,0.497,,,,,,1.000(P),2.23(T),0.0039(T),0.053,-2.946022,2.38,-4.76,-3.048000,-3.078000,-2.756000,0.000000,0.000000,0.000000,7.5971
synonymous_variant,B3GAT2,SILENT,NM_080742.2:p.Gly49Gly/c.147C>T,ggC/ggT,LOW,COSM3749985(7),0.532748,0.6448,rs1574490,,,,,,chr6,71665986,71665986,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly49Gly/c.147C>T|323|B3GAT2|protein_coding|CODING|NM_080742.2|1|1),"NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.4039,0.6066,0.3926,0.48,0.56,0.43,,,,,,,,,,,,,,,,
missense_variant,OGFRL1,MISSENSE,NM_024576.3:p.Ser47Pro/c.139T>C,Tcc/Ccc,MODERATE,,0.224241,0.2698,rs112585190,0.28(T),0.0(B),0(N),-1.0085(T),,chr6,71998778,71998778,T,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser47Pro/c.139T>C|451|OGFRL1|protein_coding|CODING|NM_024576.3|1|1),"NHEK:H3K9ac,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1319,0.2133,0.1044,0.10,0.17,0.07,,0.824238(N),1.000(P),0.91(T),0.0193(T),0.043,1.286311,2.22,2.22,-0.695000,0.272000,0.871000,0.906000,0.984000,0.989000,4.7233
synonymous_variant,OGFRL1,SILENT,NM_024576.3:p.His228His/c.684T>C,caT/caC,LOW,COSM4004117(1),0.215855,0.2708,rs2273888,,,,,,chr6,72006512,72006512,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His228His/c.684T>C|451|OGFRL1|protein_coding|CODING|NM_024576.3|6|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1329,0.2104,0.1044,0.16,0.27,0.10,,,,,,,,,,,,,,,,
synonymous_variant,RIMS1,SILENT,NM_014989.5:p.Leu222Leu/c.666A>G,ctA/ctG,LOW,,0.751797,0.8323,rs2249021,,,,,,chr6,72889472,72889472,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu222Leu/c.666A>G|1692|RIMS1|protein_coding|CODING|NM_014989.5|5|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.6994,0.7104,0.6501,0.69,0.80,0.64,,,,,,,,,,,,,,,,
synonymous_variant,RIMS1,SILENT,NM_014989.5:p.Leu361Leu/c.1083A>G,ctA/ctG,LOW,COSM4161336(2),0.974641,1,rs2463730,,,,,,chr6,72892257,72892257,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu361Leu/c.1083A>G|1692|RIMS1|protein_coding|CODING|NM_014989.5|6|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,IMR90:H3K4me3",,RCV000081688.1,,1,0.9971,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RIMS1,SILENT,NM_014989.5:p.Phe1516Phe/c.4548C>T,ttC/ttT,LOW,,0.158746,0.0149,rs2815738,,,,,,chr6,73102442,73102442,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe836Phe/c.2508C>T|1012|RIMS1|protein_coding|CODING|NM_001168407.1|22|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe641Phe/c.1923C>T|817|RIMS1|protein_coding|CODING|NM_001168408.1|18|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe584Phe/c.1752C>T|760|RIMS1|protein_coding|CODING|NM_001168409.1|19|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe650Phe/c.1950C>T|826|RIMS1|protein_coding|CODING|NM_001168410.1|19|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe43Phe/c.129C>T|219|RIMS1|protein_coding|CODING|NM_001168411.1|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1516Phe/c.4548C>T|1692|RIMS1|protein_coding|CODING|NM_014989.5|31|1)",NHEK:H3K27me3,,,,0.2975,0.1052,0.2435,0.21,0.16,0.24,,,0.000(P),,,.,1.365787,5.5,4.63,0.591000,1.320000,1.642000,0.997000,1.000000,1.000000,14.2864
synonymous_variant,KCNQ5,SILENT,NM_001160133.1:p.Ser41Ser/c.123C>G,tcC/tcG,LOW,COSM4161338(2),0.458067,0.4524,rs3734212,,,,,,chr6,73332040,73332040,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser41Ser/c.123C>G|923|KCNQ5|protein_coding|CODING|NM_001160130.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser41Ser/c.123C>G|942|KCNQ5|protein_coding|CODING|NM_001160132.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser41Ser/c.123C>G|951|KCNQ5|protein_coding|CODING|NM_001160133.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser41Ser/c.123C>G|822|KCNQ5|protein_coding|CODING|NM_001160134.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser41Ser/c.123C>G|932|KCNQ5|protein_coding|CODING|NM_019842.3|1|1)","NHEK:H3K9ac,K562:Max,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,HMEC:CTCF,GM12878:EBF,K562:E2F6,GM12878:PolII,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF",,,,0.4867,0.4337,0.7097,0.64,0.43,0.74,,,,,,,,,,,,,,,,
missense_variant,KHDC3L,MISSENSE,NM_001017361.2:p.Glu97Gln/c.289G>C,Gag/Cag,MODERATE,COSM3762183(3),0.0611022,0.0288,rs564533,0.68(T),0.01(B),0.69(N),-0.9289(T),,chr6,74072937,74072937,G,C,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu97Gln/c.289G>C|217|KHDC3L|protein_coding|CODING|NM_001017361.2|2|1),HepG2:H3K27me3,,,,0.0879,0.0562,0.1421,0.09,0.03,0.12,,0.756230(N),1.000(P),2.8(T),0.0045(T),0.038,0.389129,3.38,-6.76,-0.367000,-2.576000,-0.786000,0.229000,0.001000,0.086000,10.0216
missense_variant,KHDC3L,MISSENSE,NM_001017361.2:p.Ala201Gly/c.602C>G,gCa/gGa,MODERATE,COSM3762184(1),0.488419,0.5397,rs561930,0.05(D),0.894(P),1.7(L),-1.0318(T),,chr6,74073531,74073531,C,G,hom,missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala201Gly/c.602C>G|217|KHDC3L|protein_coding|CODING|NM_001017361.2|3|1),HepG2:H3K27me3,,,,0.6268,0.4452,0.5716,0.49,0.37,0.55,,0.710984(N),1.000(P),0.68(T),0.1213(T),0.064,1.829348,2.72,-0.555,-0.293000,-0.130000,0.426000,0.002000,0.000000,0.001000,8.0268
missense_variant,OOEP,MISSENSE,NM_001080507.2:p.Val92Ala/c.275T>C,gTc/gCc,MODERATE,,0.511382,0.5933,rs496530,1(T),"0.013,0.032(B,B)",0.205(N),-0.9483(T),,chr6,74079024,74079024,A,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val92Ala/c.275T>C|149|OOEP|protein_coding|CODING|NM_001080507.2|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6309,0.5014,0.5835,0.49,0.37,0.55,,0.860282(N),1.000(P),"2.75,2.75,2.75(T,T,T)",0.0036(T),0.041,0.238792,3.69,1.38,0.533000,0.307000,-0.062000,0.026000,0.000000,0.000000,4.4736
synonymous_variant,OOEP,SILENT,NM_001080507.2:p.Val86Val/c.258T>G,gtT/gtG,LOW,,0.971645,1,rs497243,,,,,,chr6,74079041,74079041,A,C,hom,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val86Val/c.258T>G|149|OOEP|protein_coding|CODING|NM_001080507.2|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,DDX43,MISSENSE,NM_018665.2:p.Lys625Glu/c.1873A>G,Aag/Gag,MODERATE,,0.490615,0.5446,rs311686,0.36(T),0.005(B),1.22(L),-0.9967(T),,chr6,74125875,74125875,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys625Glu/c.1873A>G|648|DDX43|protein_coding|CODING|NM_018665.2|16|1),HepG2:H3K27me3,,,,0.6288,0.4481,0.5726,0.49,0.37,0.54,,0.001242(N),0.000(P),2.4(T),0.0126(T),0.041,-0.047946,5.26,4.11,0.482000,1.022000,2.479000,0.011000,0.043000,0.981000,6.8706
missense_variant,DDX43,MISSENSE,NM_018665.2:p.Gln629Arg/c.1886A>G,cAg/cGg,MODERATE,,0.490415,0.5456,rs311685,0.45(T),0.003(B),1.155(L),-0.9263(T),,chr6,74125888,74125888,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln629Arg/c.1886A>G|648|DDX43|protein_coding|CODING|NM_018665.2|16|1),HepG2:H3K27me3,,,,0.6278,0.4467,0.5726,0.49,0.37,0.54,,0.944286(N),1.000(P),2.48(T),0.0092(T),0.027,-1.096552,5.26,1.26,-0.468000,0.054000,0.549000,0.024000,0.314000,0.007000,7.1388
synonymous_variant,MB21D1,SILENT,NM_138441.2:p.Lys501Lys/c.1503G>A,aaG/aaA,LOW,,0.718051,0.7262,rs311678,,,,,,chr6,74135016,74135016,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys501Lys/c.1503G>A|522|MB21D1|protein_coding|CODING|NM_138441.2|5|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.8211,0.6138,0.7475,0.72,0.67,0.74,,,,,,,,,,,,,,,,
missense_variant,MB21D1,MISSENSE,NM_138441.2:p.Pro261His/c.782C>A,cCt/cAt,MODERATE,COSM4004120(2),0.502796,0.502,rs610913,0.01(D),0.988(D),2.43(M),-1.1513(T),,chr6,74155346,74155346,G,T,het,missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro261His/c.782C>A|522|MB21D1|protein_coding|CODING|NM_138441.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6196,0.389,0.6441,0.55,0.40,0.62,,0.000802(D),0.481(P),"3.18,3.18(T,T)",0.0458(T),0.317,1.833903,5.09,5.09,0.462000,2.525000,1.979000,0.085000,0.994000,1.000000,11.4896
synonymous_variant,MB21D1,SILENT,NM_138441.2:p.Pro134Pro/c.402T>C,ccT/ccC,LOW,COSM3749986(8),0.898363,0.9484,rs9446904,,,,,,chr6,74161503,74161503,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro134Pro/c.402T>C|522|MB21D1|protein_coding|CODING|NM_138441.2|1|1),"NHEK:H3K9ac,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HeLa-S3:Ap2gamma,CD4:H3K4ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9151,0.8674,0.8579,0.87,0.89,0.86,,,,,,,,,,,,,,,,
missense_variant,MB21D1,MISSENSE,NM_138441.2:p.Thr35Asn/c.104C>A,aCc/aAc,MODERATE,COSM4161348(1),0.898363,0.9484,rs9352000,0.44(T),0.0(B),-1.245(N),-1.0268(T),,chr6,74161801,74161801,G,T,het,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr35Asn/c.104C>A|522|MB21D1|protein_coding|CODING|NM_138441.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,CD4:H3K9ac,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12",,,,0.9151,0.8674,0.8579,0.87,0.89,0.86,,0.203164(N),1.000(P),"1.5,1.91(T,T)",0.0056(T),0.026,-0.189021,3.47,-4.54,-1.310000,-1.539000,-2.751000,0.001000,0.000000,0.000000,2.67
synonymous_variant,CD109,SILENT,NM_133493.4:p.Tyr215Tyr/c.645C>T,taC/taT,LOW,,0.668331,0.8452,rs6453696,,,,,,chr6,74466377,74466377,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr215Tyr/c.645C>T|1428|CD109|protein_coding|CODING|NM_001159587.2|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr138Tyr/c.414C>T|1368|CD109|protein_coding|CODING|NM_001159588.2|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr215Tyr/c.645C>T|1445|CD109|protein_coding|CODING|NM_133493.4|6|1)",,,,,0.5532,0.6816,0.507,0.60,0.72,0.53,,,,,,,,,,,,,,,,
missense_variant,CD109,MISSENSE,NM_133493.4:p.Tyr703Ser/c.2108A>C,tAc/tCc,MODERATE,,0.515575,0.5268,rs10455097,0.62(T),"0.001,0.0,0.0(B,B,B)",-1.475(N),-0.9758(T),,chr6,74493432,74493432,A,C,het,"missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr703Ser/c.2108A>C|1428|CD109|protein_coding|CODING|NM_001159587.2|19|1),missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr626Ser/c.1877A>C|1368|CD109|protein_coding|CODING|NM_001159588.2|18|1),missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr703Ser/c.2108A>C|1445|CD109|protein_coding|CODING|NM_133493.4|19|1),splice_region_variant(LOW|||c.2108A>C|1428|CD109|protein_coding|CODING|NM_001159587.2|19|1),splice_region_variant(LOW|||c.1877A>C|1368|CD109|protein_coding|CODING|NM_001159588.2|18|1),splice_region_variant(LOW|||c.2108A>C|1445|CD109|protein_coding|CODING|NM_133493.4|19|1)","HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3425,0.5072,0.495,0.56,0.64,0.51,,0.353567(N),1.000(P),"1.91,1.91,1.91(T,T,T)",0.0072(T),0.059,-1.977407,5.16,5.16,-0.127000,1.413000,0.728000,0.003000,0.680000,0.936000,10.6226
missense_variant,CD109,MISSENSE,NM_133493.4:p.Asn797Ser/c.2390A>G,aAt/aGt,MODERATE,COSM1445877(5),0.372404,0.4087,rs2351528,0.28(T),"0.014,0.015,0.009(B,B,B)",1.685(L),-1.0022(T),,chr6,74497009,74497009,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn797Ser/c.2390A>G|1428|CD109|protein_coding|CODING|NM_001159587.2|21|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn720Ser/c.2159A>G|1368|CD109|protein_coding|CODING|NM_001159588.2|20|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn797Ser/c.2390A>G|1445|CD109|protein_coding|CODING|NM_133493.4|21|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.2178,0.4049,0.339,0.39,0.47,0.36,,0.711652(N),1.000(P),"1.93,2.15,1.93(T,T,T)",0.0254(T),0.005,-1.425324,5.46,1.63,-1.874000,-0.068000,1.818000,0.012000,0.079000,1.000000,10.7397
missense_variant,CD109,MISSENSE,NM_133493.4:p.Val845Ile/c.2533G>A,Gtc/Atc,MODERATE,COSM4004122(3),0.371605,0.4087,rs5023688,0.6(T),"0.008,0.052,0.007(B,B,B)",0.705(N),-1.0040(T),,chr6,74497152,74497152,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val845Ile/c.2533G>A|1428|CD109|protein_coding|CODING|NM_001159587.2|21|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val768Ile/c.2302G>A|1368|CD109|protein_coding|CODING|NM_001159588.2|20|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val845Ile/c.2533G>A|1445|CD109|protein_coding|CODING|NM_133493.4|21|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.2178,0.4049,0.339,0.39,0.46,0.36,,0.611562(N),1.000(P),"1.51,1.78,1.56(T,T,T)",0.0132(T),0.05,-1.810761,5.45,-9.1,-2.361000,-2.465000,-1.860000,0.106000,0.001000,0.000000,11.6482
missense_variant,CD109,MISSENSE,NM_133493.4:p.Thr1241Met/c.3722C>T,aCg/aTg,MODERATE,COSM4004123(1),0.408347,0.4583,rs2917862,0.13(T),"0.03,0.253,0.107(B,B,B)",1.59(L),-1.0309(T),,chr6,74521947,74521947,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1224Met/c.3671C>T|1428|CD109|protein_coding|CODING|NM_001159587.2|29|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1164Met/c.3491C>T|1368|CD109|protein_coding|CODING|NM_001159588.2|28|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1241Met/c.3722C>T|1445|CD109|protein_coding|CODING|NM_133493.4|29|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.5102,0.4669,0.4901,0.40,0.26,0.47,,0.736070(N),1.000(P),"1.79,2.02,1.8(T,T,T)",0.0246(T),0.052,0.015803,5.25,-1.95,-0.251000,-0.333000,-0.978000,0.536000,0.001000,0.000000,12.6268
synonymous_variant,CD109,SILENT,NM_133493.4:p.Ala1391Ala/c.4173T>G,gcT/gcG,LOW,,0.844649,0.9514,rs2917887,,,,,,chr6,74533192,74533192,T,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1374Ala/c.4122T>G|1428|CD109|protein_coding|CODING|NM_001159587.2|33|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1314Ala/c.3942T>G|1368|CD109|protein_coding|CODING|NM_001159588.2|32|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1391Ala/c.4173T>G|1445|CD109|protein_coding|CODING|NM_133493.4|33|1)","HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.8354,0.928,0.9294,0.86,0.72,0.93,,,,,,,,,,,,,,,,
missense_variant,COL12A1,MISSENSE,NM_004370.5:p.Gly3058Ser/c.9172G>A,Ggc/Agc,MODERATE,COSM150125(1),0.711861,0.6796,rs970547,0.05(D),"0.999,0.998(D,D)",1.65(L),0.5566(D),,chr6,75797302,75797302,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly3058Ser/c.9172G>A|3063|COL12A1|protein_coding|CODING|NM_004370.5|65|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1894Ser/c.5680G>A|1899|COL12A1|protein_coding|CODING|NM_080645.2|50|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6759,0.7738,0.7744,0.74,0.66,0.78,,0.000000(D),0.000(P),"-2.11,-2.46,-2.16,-2.1,-2.08(D,D,D,D,D)",0.7553(D),0.507,5.486790,5.75,5.75,0.655000,2.719000,7.463000,0.997000,1.000000,1.000000,19.5476
missense_variant,COL12A1,MISSENSE,NM_004370.5:p.Glu2160Val/c.6479A>T,gAa/gTa,MODERATE,,0.0123802,0,rs35523808,0.04(D),"0.966,0.98(D,D)",2.57(M),-0.9515(T),,chr6,75834971,75834971,T,A,het,"missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu2160Val/c.6479A>T|3063|COL12A1|protein_coding|CODING|NM_004370.5|40|1),missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu996Val/c.2987A>T|1899|COL12A1|protein_coding|CODING|NM_080645.2|25|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0031,0.0144,0.0467,0.04,0.01,0.05,,0.000000(D),1.000(D),"2.18,2.18,2.18,2.18(T,T,T,T)",0.1107(T),0.398,4.429185,5.22,5.22,0.482000,2.111000,5.773000,0.978000,1.000000,1.000000,15.3938
synonymous_variant,COL12A1,SILENT,NM_004370.5:p.Ala1957Ala/c.5871T>A,gcT/gcA,LOW,,0.886182,0.8661,rs594012,,,,,,chr6,75841722,75841722,A,T,het,"synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala1957Ala/c.5871T>A|3063|COL12A1|protein_coding|CODING|NM_004370.5|35|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala793Ala/c.2379T>A|1899|COL12A1|protein_coding|CODING|NM_080645.2|20|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8875,0.9063,0.8936,0.88,0.88,0.88,,,,,,,,,,,,,,,,
synonymous_variant,TMEM30A,SILENT,NM_018247.3:p.Ile68Ile/c.204T>C,atT/atC,LOW,COSM4161353(1),0.149561,0.1062,rs240374,,,,,,chr6,75994151,75994151,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile68Ile/c.204T>C|325|TMEM30A|protein_coding|CODING|NM_001143958.1|1|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile68Ile/c.204T>C|361|TMEM30A|protein_coding|CODING|NM_018247.3|1|1),upstream_gene_variant(MODIFIER||579|||LOC100506804||NON_CODING|NR_040081.1||1)","K562:ZBTB7A,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,IMR90:H3K18ac,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.0307,0.0937,0.0835,0.17,0.34,0.09,,,,,,,,,,,,,,,,
missense_variant,FILIP1,MISSENSE,NM_001289987.1:p.Leu285Phe/c.853C>T,Ctc/Ttc,MODERATE,COSM3762188(1),0.00898562,0,rs62415695,0.01(D),"0.973,0.987,0.996(D,D,D)",2.085(M),-1.0339(T),,chr6,76024704,76024704,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu285Phe/c.853C>T|1216|FILIP1|protein_coding|CODING|NM_001289987.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu282Phe/c.844C>T|1177|FILIP1|protein_coding|CODING|NM_001300866.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu282Phe/c.844C>T|1213|FILIP1|protein_coding|CODING|NM_015687.3|5|1)","HUVEC:H3K27me3,HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0216,0.0278,0.03,0.01,0.04,,0.000009(D),1.000(D),"1.96,1.96,1.93(T,T,T)",0.1161(T),0.331,2.809513,5.86,5.86,0.650000,2.937000,2.132000,0.971000,1.000000,1.000000,13.7319
missense_variant,SENP6,MISSENSE,NM_015571.2:p.Thr121Met/c.362C>T,aCg/aTg,MODERATE,,0.155551,0.0595,rs17414086,0.07(T),"0.439,0.255,0.563(B,B,P)",1.1(L),-1.0622(T),,chr6,76344431,76344431,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr121Met/c.362C>T|1105|SENP6|protein_coding|CODING|NM_001100409.1|5|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr121Met/c.362C>T|1112|SENP6|protein_coding|CODING|NM_015571.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2454,0.1931,0.327,0.26,0.06,0.36,,0.069557(N),0.000(P),"0.83,0.83,0.83,0.83,0.83,0.83(T,T,T,T,T,T)",0.0693(T),0.031,1.056883,5.5,3.73,-0.203000,0.710000,0.928000,0.048000,0.993000,0.864000,10.3397
synonymous_variant,SENP6,SILENT,NM_015571.2:p.Arg209Arg/c.627A>G,cgA/cgG,LOW,,0.895767,0.877,rs507662,,,,,,chr6,76369054,76369054,A,G,hom,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg202Arg/c.606A>G|1105|SENP6|protein_coding|CODING|NM_001100409.1|7|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg209Arg/c.627A>G|1112|SENP6|protein_coding|CODING|NM_015571.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9798,0.9781,0.92,0.80,0.98,,,,,,,,,,,,,,,,
synonymous_variant,SENP6,SILENT,NM_015571.2:p.Ala373Ala/c.1119G>A,gcG/gcA,LOW,COSM1487931(1),0.178315,0.0466,rs17414687,,,,,,chr6,76376552,76376552,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala366Ala/c.1098G>A|1105|SENP6|protein_coding|CODING|NM_001100409.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala373Ala/c.1119G>A|1112|SENP6|protein_coding|CODING|NM_015571.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2444,0.2046,0.329,0.28,0.13,0.36,,,,,,,,,,,,,,,,
missense_variant,SENP6,MISSENSE,NM_015571.2:p.Tyr1106Cys/c.3317A>G,tAt/tGt,MODERATE,,0.152756,0.0466,rs9250,0.21(T),"0.001,0.0(B,B)",0(N),-0.9543(T),,chr6,76425288,76425288,A,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1099Cys/c.3296A>G|1105|SENP6|protein_coding|CODING|NM_001100409.1|23|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1106Cys/c.3317A>G|1112|SENP6|protein_coding|CODING|NM_015571.2|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.1931,0.328,0.26,0.06,0.36,,0.071401(N),1.000(P),"2.71,2.71,2.71(T,T,T)",0.0053(T),0.039,-0.702136,5.12,-3.27,0.397000,-0.499000,-0.117000,0.071000,0.000000,0.000000,3.1101
missense_variant,IMPG1,MISSENSE,NM_001563.3:p.Ser761Asn/c.2282G>A,aGt/aAt,MODERATE,,0.124201,0.0546,rs3778005,0.4(T),0.002(B),0.55(N),-0.9682(T),,chr6,76633385,76633385,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser683Asn/c.2048G>A|719|IMPG1|protein_coding|CODING|NM_001282368.1|15|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser761Asn/c.2282G>A|797|IMPG1|protein_coding|CODING|NM_001563.3|16|1)",,,,,0.1196,0.2262,0.2634,0.19,0.06,0.26,,0.396120(N),1.000(P),"2.06,2.12(T,T)",0.0098(T),0.004,-2.192799,4.02,0.0666,-0.157000,-0.129000,0.064000,0.103000,0.001000,0.000000,3.3272
missense_variant,IMPG1,MISSENSE,NM_001563.3:p.His518Asp/c.1552C>G,Cac/Gac,MODERATE,COSM3927839(2),0.534944,0.6607,rs3734311,0.94(T),0.0(B),-1.67(N),-0.9453(T),,chr6,76660551,76660551,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His440Asp/c.1318C>G|719|IMPG1|protein_coding|CODING|NM_001282368.1|12|1),missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His518Asp/c.1552C>G|797|IMPG1|protein_coding|CODING|NM_001563.3|13|1)",HUVEC:H3K27me3,,,,0.4765,0.5677,0.4066,0.44,0.52,0.41,,0.014261(N),1.000(P),2.25(T),0.0024(T),0.018,-0.826040,5.53,1.48,-0.225000,-0.246000,0.545000,0.193000,0.032000,0.002000,5.5603
synonymous_variant,PHIP,SILENT,NM_017934.5:p.Ala1412Ala/c.4236T>A,gcT/gcA,LOW,COSM3762192(1),0.240615,0.1845,rs2275291,,,,,,chr6,79656562,79656562,A,T,het,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala1412Ala/c.4236T>A|1821|PHIP|protein_coding|CODING|NM_017934.5|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1626,0.2853,0.3211,0.29,0.27,0.30,,,,,,,,,,,,,,,,
synonymous_variant,PHIP,SILENT,NM_017934.5:p.Leu1410Leu/c.4228C>T,Ctg/Ttg,LOW,COSM3762193(1),0.278155,0.1855,rs2275290,,,,,,chr6,79656570,79656570,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1410Leu/c.4228C>T|1821|PHIP|protein_coding|CODING|NM_017934.5|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1748,0.317,0.3688,0.35,0.34,0.35,,,,,,,,,,,,,,,,
synonymous_variant,PHIP,SILENT,NM_017934.5:p.Val1385Val/c.4155C>T,gtC/gtT,LOW,,0.508187,0.6835,rs1984195,,,,,,chr6,79657391,79657391,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1385Val/c.4155C>T|1821|PHIP|protein_coding|CODING|NM_017934.5|36|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6697,0.4611,0.4791,0.43,0.31,0.49,,,,,,,,,,,,,,,,
missense_variant,PHIP,MISSENSE,NM_017934.5:p.Leu1093Pro/c.3278T>C,cTt/cCt,MODERATE,COSM3762194(2),0.216853,0.1855,rs9350797,,"0.0,0.0(B,B)",-0.935(N),-0.9631(T),,chr6,79675701,79675701,A,G,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu1093Pro/c.3278T>C|1821|PHIP|protein_coding|CODING|NM_017934.5|28|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1626,0.2824,0.3211,0.27,0.20,0.30,,0.006007(N),0.001(P),0.99(T),0.0115(T),0.06,-0.152753,5.64,2.76,-0.248000,0.347000,2.470000,0.985000,0.996000,0.998000,6.8281
synonymous_variant,PHIP,SILENT,NM_017934.5:p.Asp1060Asp/c.3180T>C,gaT/gaC,LOW,,0.551717,0.6855,rs7742431,,,,,,chr6,79679577,79679577,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1060Asp/c.3180T>C|1821|PHIP|protein_coding|CODING|NM_017934.5|27|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6789,0.4813,0.4901,0.47,0.42,0.50,,,,,,,,,,,,,,,,
missense_variant,PHIP,MISSENSE,NM_017934.5:p.Val663Gly/c.1988T>G,gTt/gGt,MODERATE,,0.943091,0.999,rs7747479,,0.0(B),-1.265(N),-0.9198(T),,chr6,79708000,79708000,A,C,hom,missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val663Gly/c.1988T>G|1821|PHIP|protein_coding|CODING|NM_017934.5|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9663,0.8948,0.9563,0.93,0.90,0.95,,0.075540(N),0.989(P),1.51(T),0.0069(T),0.13,-1.195054,5.76,1.88,-2.249000,-0.293000,0.221000,0.175000,0.105000,0.042000,9.4541
missense_variant,LCA5,MISSENSE,NM_001122769.2:p.Gly656Asp/c.1967G>A,gGc/gAc,MODERATE,,0.355232,0.2698,rs1875845,1(T),0.0(B),-1.5(N),-0.9224(T),,chr6,80196848,80196848,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly656Asp/c.1967G>A|697|LCA5|protein_coding|CODING|NM_001122769.2|8|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly656Asp/c.1967G>A|697|LCA5|protein_coding|CODING|NM_181714.3|9|1)",HSMM:H3K36me3,,,,0.274,0.3444,0.2674,0.38,0.51,0.31,,0.022363(N),1.000(P),"1.72,1.72(T,T)",0.0044(T),0.062,-1.483550,5.53,4.38,-0.409000,0.909000,1.009000,0.175000,0.999000,0.987000,6.6827
missense_variant,LCA5,MISSENSE,NM_001122769.2:p.Asp26Ala/c.77A>C,gAt/gCt,MODERATE,COSM4004131(1),0.173123,0.2192,rs34068461,0.03(D),"0.01,0.046(B,B)",1.845(L),-0.9393(T),,chr6,80228535,80228535,T,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp26Ala/c.77A>C|697|LCA5|protein_coding|CODING|NM_001122769.2|2|1),missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp26Ala/c.77A>C|697|LCA5|protein_coding|CODING|NM_181714.3|3|1)","HSMM:H3K36me3,K562:DNase1",,,,0.2168,0.2334,0.173,0.15,0.08,0.18,,0.299945(N),0.122(P),"-0.0,-0.0(T,T)",0.1205(T),0.068,3.320429,5.28,4.09,0.533000,0.986000,2.917000,0.599000,0.864000,0.997000,10.295
missense_variant,LCA5,MISSENSE,NM_001122769.2:p.Leu24Ser/c.71T>C,tTa/tCa,MODERATE,,0.890575,0.9722,rs2655655,0.58(T),0.0(B),-1.7(N),-0.9416(T),,chr6,80228541,80228541,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu24Ser/c.71T>C|697|LCA5|protein_coding|CODING|NM_001122769.2|2|1),missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu24Ser/c.71T>C|697|LCA5|protein_coding|CODING|NM_181714.3|3|1)","HSMM:H3K36me3,K562:DNase1",,,,0.8374,0.8847,0.7893,0.84,0.92,0.79,,0.042487(N),1.000(P),"1.68,1.68(T,T)",0.0053(T),0.063,0.098931,5.28,4.41,-0.119000,0.816000,2.720000,0.283000,0.692000,1.000000,9.3701
synonymous_variant,FAM46A,SILENT,NM_017633.2:p.Ile113Ile/c.339T>C,atT/atC,LOW,COSM3762195(4),0.123403,0.0952,rs3186631,,,,-1.0397(T),,chr6,82461520,82461520,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile113Ile/c.339T>C|442|FAM46A|protein_coding|CODING|NM_017633.2|2|1),"NHEK:H3K9ac,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.09,0.0591,0.0765,0.12,0.20,0.07,,,0.000(P),,0.0365(T),.,0.034763,5.38,1.19,-0.213000,0.087000,0.714000,0.005000,0.999000,0.797000,4.73
missense_variant,TPBG,MISSENSE,NM_001166392.1:p.Thr87Ala/c.259A>G,Acg/Gcg,MODERATE,,0.00858626,0,rs144253219,0.77(T),0.001(B),-1.195(N),-0.6141(T),,chr6,83074937,83074937,A,G,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr87Ala/c.259A>G|420|TPBG|protein_coding|CODING|NM_001166392.1|2|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr87Ala/c.259A>G|420|TPBG|protein_coding|CODING|NM_006670.4|3|1)","NHEK:H3K9ac,H1ESC:H3K36me3,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HMEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,HSMM:H3K27me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0266,0.0072,0.0109,0.01,0.00,0.01,,0.915940(N),1.000(N),"-3.85,-3.85,-3.85(D,D,D)",0.2727(T),0.007,-1.187227,4.11,3.15,0.379000,0.796000,0.161000,0.996000,0.421000,0.000000,6.0124
synonymous_variant,TPBG,SILENT,NM_001166392.1:p.Thr412Thr/c.1236G>A,acG/acA,LOW,COSM4161360(1),0.685703,0.5774,rs700494,,,,,,chr6,83075914,83075914,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr412Thr/c.1236G>A|420|TPBG|protein_coding|CODING|NM_001166392.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr412Thr/c.1236G>A|420|TPBG|protein_coding|CODING|NM_006670.4|3|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,HMEC:H3K4me2,IMR90:H3K36me3,NHEK:H3K36me3,NHEK:H3K4me2,HSMM:H3K27me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.7086,0.7161,0.6889,0.70,0.73,0.68,,,,,,,,,,,,,,,,
missense_variant,UBE3D,MISSENSE,NM_198920.1:p.Val379Met/c.1135G>A,Gtg/Atg,MODERATE,COSM4161361(1),0.157947,0.126,rs7739323,1(T),0.002(B),-1.935(N),-0.9503(T),,chr6,83667045,83667045,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val379Met/c.1135G>A|389|UBE3D|protein_coding|CODING|NM_198920.1|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1677,0.1427,0.1571,0.16,0.18,0.15,,0.000000(N),0.000(P),1.63(T),0.0050(T),0.115,-1.692513,5.57,5.57,-0.521000,0.953000,1.450000,0.036000,0.764000,0.943000,9.4496
missense_variant,DOPEY1,MISSENSE,NM_001199942.1:p.Arg587Gln/c.1760G>A,cGa/cAa,MODERATE,COSM3762198(1),0.0870607,0.1468,rs4706980,0.2(T),"0.005,0.709,0.788(B,P,P)",1.845(L),-1.1011(T),,chr6,83838673,83838673,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg587Gln/c.1760G>A|2476|DOPEY1|protein_coding|CODING|NM_001199942.1|16|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg596Gln/c.1787G>A|2465|DOPEY1|protein_coding|CODING|NM_015018.3|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0798,0.0893,0.1431,0.09,0.02,0.12,,0.438200(N),0.000(P),"1.85,1.81(T,T)",0.0589(T),0.053,3.025541,5.66,3.76,0.655000,0.641000,4.374000,0.991000,0.982000,1.000000,11.1733
missense_variant,PGM3,MISSENSE,NM_001199917.1:p.Asp494Asn/c.1480G>A,Gat/Aat,MODERATE,,0.355032,0.2877,rs473267,0.3(T),"0.181,0.045,0.061(B,B,B)",1.365(L),-1.1018(T),,chr6,83880167,83880167,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp385Asn/c.1153G>A|441|PGM3|protein_coding|CODING|NM_001199918.1|11|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp494Asn/c.1480G>A|570|PGM3|protein_coding|CODING|NM_001199917.1|13|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp466Asn/c.1396G>A|566|PGM3|protein_coding|CODING|NM_001199919.1|12|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp466Asn/c.1396G>A|542|PGM3|protein_coding|CODING|NM_015599.2|12|1),downstream_gene_variant(MODIFIER||1977||2476|DOPEY1|protein_coding|CODING|NM_001199942.1||1),downstream_gene_variant(MODIFIER||1977||2465|DOPEY1|protein_coding|CODING|NM_015018.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2249,0.2795,0.2952,0.35,0.55,0.25,,0.000000(N),0.000(P),"0.94,0.94,0.94,0.94,0.94(T,T,T,T,T)",0.0427(T),0.033,2.208459,5.6,3.8,-1.014000,0.400000,3.562000,0.001000,0.412000,0.997000,11.7024
synonymous_variant,PGM3,SILENT,NM_001199917.1:p.Glu455Glu/c.1365A>G,gaA/gaG,LOW,,0.358427,0.2897,rs386598647,,,,,,chr6,83881740,83881740,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu455Glu/c.1365A>G|570|PGM3|protein_coding|CODING|NM_001199917.1|12|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu346Glu/c.1038A>G|441|PGM3|protein_coding|CODING|NM_001199918.1|10|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu427Glu/c.1281A>G|566|PGM3|protein_coding|CODING|NM_001199919.1|11|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu427Glu/c.1281A>G|542|PGM3|protein_coding|CODING|NM_015599.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.226,0.2795,0.2962,0.36,0.55,0.25,,,,,,,,,,,,,,,,
missense_variant,PRSS35,MISSENSE,NM_001170423.1:p.Arg224Gln/c.671G>A,cGg/cAg,MODERATE,,0.967652,1,rs504593,0.63(T),0.0(B),0.41(N),-0.9863(T),,chr6,84233831,84233831,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg224Gln/c.671G>A|413|PRSS35|protein_coding|CODING|NM_001170423.1|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg224Gln/c.671G>A|413|PRSS35|protein_coding|CODING|NM_153362.2|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9806,0.9553,0.8936,0.92,0.98,0.89,,0.312940(N),1.000(P),"0.88,0.88(T,T)",0.0149(T),0.064,-1.092421,5.4,-1.34,-0.521000,-0.874000,-0.036000,0.007000,0.000000,0.000000,2.455
synonymous_variant,PRSS35,SILENT,NM_001170423.1:p.Ser328Ser/c.984C>T,tcC/tcT,LOW,,0.205072,0.2242,rs3812141,,,,,,chr6,84234144,84234144,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser328Ser/c.984C>T|413|PRSS35|protein_coding|CODING|NM_001170423.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser328Ser/c.984C>T|413|PRSS35|protein_coding|CODING|NM_153362.2|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2474,0.111,0.1332,0.18,0.24,0.15,,,,,,,,,,,,,,,,
synonymous_variant,SNAP91,SILENT,NM_001242792.1:p.Ser649Ser/c.1947T>C,agT/agC,LOW,COSM3762203(2),0.166733,0.2381,rs2273363,,,,,,chr6,84300997,84300997,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser649Ser/c.1947T>C|907|SNAP91|protein_coding|CODING|NM_001242792.1|21|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser619Ser/c.1857T>C|877|SNAP91|protein_coding|CODING|NM_001242793.1|20|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser558Ser/c.1674T>C|816|SNAP91|protein_coding|CODING|NM_001256717.1|22|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser530Ser/c.1590T>C|783|SNAP91|protein_coding|CODING|NM_001256718.1|20|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser649Ser/c.1947T>C|907|SNAP91|protein_coding|CODING|NM_014841.2|21|1),intron_variant(MODIFIER|||c.1094-8922T>C|600|SNAP91|protein_coding|CODING|NM_001242794.1|12|1)",,,,,0.2628,0.1354,0.2276,0.18,0.04,0.24,,,,,,,,,,,,,,,,
synonymous_variant,SNAP91,SILENT,NM_001242792.1:p.Pro517Pro/c.1551A>G,ccA/ccG,LOW,,0.821685,0.8601,rs1033655,,,,-1.0510(T),,chr6,84303342,84303342,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro517Pro/c.1551A>G|907|SNAP91|protein_coding|CODING|NM_001242792.1|17|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro515Pro/c.1545A>G|877|SNAP91|protein_coding|CODING|NM_001242793.1|17|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro480Pro/c.1440A>G|816|SNAP91|protein_coding|CODING|NM_001256717.1|20|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro398Pro/c.1194A>G|783|SNAP91|protein_coding|CODING|NM_001256718.1|16|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro517Pro/c.1551A>G|907|SNAP91|protein_coding|CODING|NM_014841.2|17|1),intron_variant(MODIFIER|||c.1094-11267A>G|600|SNAP91|protein_coding|CODING|NM_001242794.1|12|1)","HepG2:H3K4me2,HepG2:H3K4me3",,,,0.8344,0.8156,0.7068,0.76,0.86,0.71,,,0.000(P),,0.0480(T),.,0.604524,5.63,2.62,-0.355000,-0.038000,0.480000,0.973000,0.998000,1.000000,4.6015
missense_variant,TBX18,MISSENSE,NM_001080508.2:p.Gly48Arg/c.142G>A,Ggg/Agg,MODERATE,COSM1131792(6),0.409744,0.4683,rs172562,0.5(T),0.007(B),0(N),-1.0384(T),,chr6,85473758,85473758,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly48Arg/c.142G>A|607|TBX18|protein_coding|CODING|NM_001080508.2|1|1),"K562:H3K4me3,HSMM:H2AZ,K562:PolII,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HUVEC:H3K27ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1",,,,0.7106,0.3847,0.501,0.35,0.15,0.44,,0.974149(N),1.000(P),-2.11(D),0.2441(T),0.039,2.603923,5.33,4.45,0.305000,2.495000,2.304000,0.591000,0.127000,0.007000,14.0585
missense_variant,NT5E,MISSENSE,NM_002526.3:p.Thr376Ala/c.1126A>G,Acg/Gcg,MODERATE,,0.793331,0.5972,rs2229523,0.31(T),"0.0,0.001(B,B)",-0.355(N),-1.0103(T),,chr6,86199233,86199233,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr376Ala/c.1126A>G|524|NT5E|protein_coding|CODING|NM_001204813.1|6|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr376Ala/c.1126A>G|574|NT5E|protein_coding|CODING|NM_002526.3|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.8241,0.8401,0.7028,0.77,0.92,0.69,,0.169321(N),0.000(P),"0.59,0.59(T,T)",0.0180(T),0.202,0.121107,5.23,-0.403,-2.026000,-0.825000,-0.070000,0.012000,0.110000,0.001000,1.809
missense_variant,NT5E,MISSENSE,NM_002526.3:p.Met379Thr/c.1136T>C,aTg/aCg,MODERATE,,0.155751,0.0516,rs2229524,,,-0.895(N),-1.0017(T),,chr6,86199243,86199243,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met379Thr/c.1136T>C|524|NT5E|protein_coding|CODING|NM_001204813.1|6|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met379Thr/c.1136T>C|574|NT5E|protein_coding|CODING|NM_002526.3|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0982,0.0576,0.0537,0.17,0.36,0.07,,,1.000(P),,0.0132(T),.,-0.289306,5.21,-0.33,0.379000,0.017000,0.677000,0.800000,0.886000,0.005000,0.9741
synonymous_variant,HTR1E,SILENT,NM_000865.2:p.His177His/c.531C>T,caC/caT,LOW,,0.0245607,0,rs6302,,,,,,chr6,87725583,87725583,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His177His/c.531C>T|365|HTR1E|protein_coding|CODING|NM_000865.2|2|1),HepG2:H3K27me3,,,,0.0164,0.0418,0.0746,0.06,0.01,0.08,,,,,,,,,,,,,,,,
splice_donor_variant,CGA,protein_coding,NM_001252383.1:c.182C>T,,HIGH,,0.57488,0.62,rs2011192,,,,,CGA:0.50(2);,chr6,87796233,87796233,G,A,het,"splice_donor_variant(HIGH|||c.182C>T|147|CGA|protein_coding|CODING|NM_001252383.1|3|1),intron_variant(MODIFIER|||c.181+2C>T|147|CGA|protein_coding|CODING|NM_001252383.1|3|1),intron_variant(MODIFIER|||c.89-81C>T|116|CGA|protein_coding|CODING|NM_000735.3|2|1)",HepG2:H3K27me3,,,,0.5215,0.6124,0.5239,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF292,SILENT,NM_015021.1:p.Cys727Cys/c.2181T>C,tgT/tgC,LOW,COSM3762206(1),0.415935,0.4643,rs6908834,,,,,,chr6,87965528,87965528,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys727Cys/c.2181T>C|2723|ZNF292|protein_coding|CODING|NM_015021.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5112,0.5778,0.3708,0.36,0.29,0.39,,,,,,,,,,,,,,,,
missense_variant,ZNF292,MISSENSE,NM_015021.1:p.Ile1740Val/c.5218A>G,Ata/Gta,MODERATE,COSM3762208(1),0.592851,0.6002,rs9362415,1(T),0.0(B),-0.695(N),-0.9099(T),,chr6,87968565,87968565,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1740Val/c.5218A>G|2723|ZNF292|protein_coding|CODING|NM_015021.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.6657,0.4692,0.52,0.61,0.49,,0.906419(N),0.999(P),"3.39,3.4(T,T)",0.0019(T),0.011,-1.838131,5.59,-3.5,-0.385000,-0.451000,0.496000,0.957000,0.910000,0.851000,11.2183
synonymous_variant,ZNF292,SILENT,NM_015021.1:p.Asn2130Asn/c.6390C>T,aaC/aaT,LOW,COSM1131788(2),0.592652,0.6002,rs3734187,,,,,,chr6,87969737,87969737,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2130Asn/c.6390C>T|2723|ZNF292|protein_coding|CODING|NM_015021.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.6657,0.4692,0.53,0.61,0.49,,,,,,,,,,,,,,,,
synonymous_variant,ZNF292,SILENT,NM_015021.1:p.Thr2318Thr/c.6954C>G,acC/acG,LOW,COSM3762210(1),0.674121,0.6012,rs3812132,,,,,,chr6,87970301,87970301,C,G,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr2318Thr/c.6954C>G|2723|ZNF292|protein_coding|CODING|NM_015021.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6585,0.7032,0.5139,0.61,0.80,0.53,,,,,,,,,,,,,,,,
missense_variant,GJB7,MISSENSE,NM_198568.2:p.Phe206Leu/c.616T>C,Ttt/Ctt,MODERATE,COSM3762211(1),0.584665,0.6002,rs6934603,0.45(T),0.0(B),-0.585(N),-0.6606(T),,chr6,87994015,87994015,A,G,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe206Leu/c.616T>C|223|GJB7|protein_coding|CODING|NM_198568.2|3|1),HUVEC:H3K27me3,,,,0.6268,0.6628,0.4672,0.52,0.59,0.49,,0.958966(N),1.000(P),"-4.37,-4.37(D,D)",0.4319(T),0.03,-1.512643,4.99,0.619,-0.461000,-0.137000,0.770000,0.211000,0.808000,0.000000,5.9762
missense_variant,GJB7,MISSENSE,NM_198568.2:p.Thr20Ile/c.59C>T,aCt/aTt,MODERATE,,0.684904,0.6012,rs4707358,1(T),0.001(B),-2.555(N),-0.6548(T),,chr6,87994572,87994572,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr20Ile/c.59C>T|223|GJB7|protein_coding|CODING|NM_198568.2|3|1),HUVEC:H3K27me3,,,,0.6575,0.7061,0.5149,0.63,0.84,0.53,,0.000109(N),1.000(P),"-5.23,-5.23,-5.23(D,D,D)",0.3075(T),0.301,-1.952911,5.12,2.72,-1.135000,0.003000,4.870000,0.048000,0.360000,1.000000,4.9805
missense_variant,ORC3,MISSENSE,NM_181837.2:p.Glu473Gln/c.1417G>C,Gag/Cag,MODERATE,,,,,0.72(T),"0.001,0.001,0.002,0.001,0.001(B,B,B,B,B)",-1.175(N),-0.9334(T),,chr6,88362868,88362868,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu330Gln/c.988G>C|568|ORC3|protein_coding|CODING|NM_001197259.1|13|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu473Gln/c.1417G>C|711|ORC3|protein_coding|CODING|NM_012381.3|14|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu473Gln/c.1417G>C|712|ORC3|protein_coding|CODING|NM_181837.2|14|1)","CD4:DNase1,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.005915(N),1.000(N),"3.15,3.14,2.8(T,T,T)",0.0026(T),0.076,1.855062,5.71,0.557,-0.165000,-0.196000,0.254000,0.838000,0.967000,0.997000,12.7794
synonymous_variant,CNR1,SILENT,NM_001160226.1:p.Thr453Thr/c.1359G>A,acG/acA,LOW,COSM3762213(2),0.129393,0.0764,rs1049353,,,,,,chr6,88853635,88853635,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr420Thr/c.1260G>A|439|CNR1|protein_coding|CODING|NM_033181.3|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr453Thr/c.1359G>A|472|CNR1|protein_coding|CODING|NM_001160226.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr453Thr/c.1359G>A|472|CNR1|protein_coding|CODING|NM_001160258.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr453Thr/c.1359G>A|472|CNR1|protein_coding|CODING|NM_001160259.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr453Thr/c.1359G>A|472|CNR1|protein_coding|CODING|NM_016083.4|2|1)","GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1748,0.147,0.2584,0.20,0.07,0.27,,,,,,,,,,,,,,,,
synonymous_variant,GABRR1,SILENT,NM_002042.4:p.Asp146Asp/c.438C>T,gaC/gaT,LOW,COSM3762216(1),0.79393,0.9464,rs422751,,,,,,chr6,89907873,89907873,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp129Asp/c.387C>T|462|GABRR1|protein_coding|CODING|NM_001256703.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp59Asp/c.177C>T|392|GABRR1|protein_coding|CODING|NM_001256704.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp59Asp/c.177C>T|392|GABRR1|protein_coding|CODING|NM_001267582.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp146Asp/c.438C>T|479|GABRR1|protein_coding|CODING|NM_002042.4|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7444,0.8775,0.84,0.78,0.67,0.83,,,,,,,,,,,,,,,,
splice_acceptor_variant,GABRR1,protein_coding,NM_001256704.1:c.1G>A,,HIGH,,0.742013,0.9286,rs4590242,,,,,GABRR1:0.50(4);,chr6,89913209,89913209,C,T,het,"splice_acceptor_variant(HIGH|||c.1G>A|392|GABRR1|protein_coding|CODING|NM_001256704.1|3|1),splice_acceptor_variant(HIGH|||c.1G>A|392|GABRR1|protein_coding|CODING|NM_001267582.1|4|1),splice_region_variant(LOW|||c.123G>A|479|GABRR1|protein_coding|CODING|NM_002042.4|1|1),intron_variant(MODIFIER|||c.123-2225G>A|462|GABRR1|protein_coding|CODING|NM_001256703.1|1|1),intron_variant(MODIFIER|||c.123-5G>A|479|GABRR1|protein_coding|CODING|NM_002042.4|1|1),intron_variant(MODIFIER|||c.-142-2G>A|392|GABRR1|protein_coding|CODING|NM_001256704.1|2|1),intron_variant(MODIFIER|||c.-142-2G>A|392|GABRR1|protein_coding|CODING|NM_001267582.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6994,0.7896,0.6531,0.67,0.69,0.65,,,,,,,,,,,,,,,,
missense_variant,GABRR1,MISSENSE,NM_002042.4:p.His27Arg/c.80A>G,cAc/cGc,MODERATE,COSM150132(4),0.230831,0.2857,rs1186902,,"0.043,0.019(B,B)",0.695(N),-1.0341(T),,chr6,89926962,89926962,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His27Arg/c.80A>G|462|GABRR1|protein_coding|CODING|NM_001256703.1|1|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His27Arg/c.80A>G|479|GABRR1|protein_coding|CODING|NM_002042.4|1|1),5_prime_UTR_variant(MODIFIER||16066|c.-284A>G|392|GABRR1|protein_coding|CODING|NM_001256704.1|1|1),intron_variant(MODIFIER|||c.-242+4032A>G|392|GABRR1|protein_coding|CODING|NM_001267582.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.3016,0.3069,0.2644,0.21,0.11,0.27,,0.088011(N),0.000(P),"1.21,1.21(T,T)",0.0239(T),0.306,1.140726,5.75,1.76,0.528000,0.056000,2.229000,0.996000,0.993000,1.000000,12.327
missense_variant,GABRR1,MISSENSE,NM_002042.4:p.Met26Val/c.76A>G,Atg/Gtg,MODERATE,,0.30611,0.0942,rs12200969,,"0.0,0.0(B,B)",-0.345(N),-0.9191(T),,chr6,89926966,89926966,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met26Val/c.76A>G|462|GABRR1|protein_coding|CODING|NM_001256703.1|1|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met26Val/c.76A>G|479|GABRR1|protein_coding|CODING|NM_002042.4|1|1),5_prime_UTR_variant(MODIFIER||16070|c.-288A>G|392|GABRR1|protein_coding|CODING|NM_001256704.1|1|1),intron_variant(MODIFIER|||c.-242+4028A>G|392|GABRR1|protein_coding|CODING|NM_001267582.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.2444,0.2118,0.3529,0.39,0.47,0.35,,0.073662(N),0.000(P),"1.89,1.89(T,T)",0.0078(T),0.018,1.169648,5.75,2.91,-0.128000,0.051000,0.261000,0.995000,0.992000,0.989000,5.3971
missense_variant,GABRR2,MISSENSE,NM_002043.3:p.Thr430Met/c.1289C>T,aCg/aTg,MODERATE,,0.252196,0.1389,rs282129,,0.0(B),-1.295(N),-0.9576(T),,chr6,89967498,89967498,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr430Met/c.1289C>T|465|GABRR2|protein_coding|CODING|NM_002043.3|9|1),NHEK:H3K27me3,,,,0.1544,0.1657,0.2525,0.33,0.43,0.28,,0.236871(N),1.000(P),,0.0110(T),0.131,1.320004,5.92,3.47,-0.295000,0.459000,2.846000,0.775000,0.902000,0.159000,8.9229
missense_variant,UBE2J1,MISSENSE,NM_016021.2:p.Leu229Val/c.685C>G,Ctc/Gtc,MODERATE,,0.682308,0.7391,rs10502,0.29(T),0.0(B),0(N),-1.0691(T),,chr6,90039670,90039670,G,C,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu229Val/c.685C>G|318|UBE2J1|protein_coding|CODING|NM_016021.2|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8067,0.4856,0.3648,0.52,0.81,0.38,,0.639136(N),1.000(P),0.04(T),0.0426(T),0.019,-1.667752,5.87,2.74,-0.120000,0.407000,-0.938000,0.034000,0.023000,0.000000,4.3479
missense_variant,ANKRD6,MISSENSE,NM_001242809.1:p.Ile128Val/c.382A>G,Att/Gtt,MODERATE,,0.781749,0.9077,rs3748085,0.96(T),"0.0,0.0,0.0(B,B,B)",0.54(N),-1.0786(T),,chr6,90315789,90315789,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile128Val/c.382A>G|727|ANKRD6|protein_coding|CODING|NM_001242809.1|5|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile128Val/c.382A>G|727|ANKRD6|protein_coding|CODING|NM_001242811.1|5|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile128Val/c.382A>G|692|ANKRD6|protein_coding|CODING|NM_001242813.1|5|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile128Val/c.382A>G|722|ANKRD6|protein_coding|CODING|NM_014942.4|5|1),intron_variant(MODIFIER|||c.318+2943A>G|663|ANKRD6|protein_coding|CODING|NM_001242814.1|3|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.6748,0.866,0.831,0.80,0.72,0.84,,0.005536(N),0.000(P),"-0.31,-0.31,-0.31,-0.31,-0.31,-0.31(T,T,T,T,T,T)",0.0549(T),0.137,0.284214,4.98,4.07,-0.119000,0.470000,3.910000,0.775000,0.912000,1.000000,10.2184
synonymous_variant,ANKRD6,SILENT,NM_001242809.1:p.Ala347Ala/c.1041A>G,gcA/gcG,LOW,COSM4161383(1),0.904153,0.997,rs17292811,,,,,,chr6,90333599,90333599,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala347Ala/c.1041A>G|727|ANKRD6|protein_coding|CODING|NM_001242809.1|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala347Ala/c.1041A>G|727|ANKRD6|protein_coding|CODING|NM_001242811.1|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala312Ala/c.936A>G|692|ANKRD6|protein_coding|CODING|NM_001242813.1|11|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala288Ala/c.864A>G|663|ANKRD6|protein_coding|CODING|NM_001242814.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala347Ala/c.1041A>G|722|ANKRD6|protein_coding|CODING|NM_014942.4|12|1)","K562:PU1,GM06990:H3K36me3,K562:SP1",,,,0.9008,0.9193,0.8419,0.85,0.88,0.84,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD6,SILENT,NM_001242809.1:p.Ser579Ser/c.1737G>A,tcG/tcA,LOW,COSM3762219(1),0.600839,0.9077,rs3210511,,,,,,chr6,90340276,90340276,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser579Ser/c.1737G>A|727|ANKRD6|protein_coding|CODING|NM_001242809.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser579Ser/c.1737G>A|727|ANKRD6|protein_coding|CODING|NM_001242811.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser544Ser/c.1632G>A|692|ANKRD6|protein_coding|CODING|NM_001242813.1|15|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser515Ser/c.1545G>A|663|ANKRD6|protein_coding|CODING|NM_001242814.1|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser574Ser/c.1722G>A|722|ANKRD6|protein_coding|CODING|NM_014942.4|16|1),downstream_gene_variant(MODIFIER||1667||88|LYRM2|protein_coding|CODING|NM_020466.4||1),downstream_gene_variant(MODIFIER||1667|||LYRM2||CODING|NR_028493.1||1),downstream_gene_variant(MODIFIER||1667|||LYRM2||CODING|NR_028494.1||1),downstream_gene_variant(MODIFIER||1667|||LYRM2||CODING|NR_028495.1||1)","H1ESC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3875,0.7003,0.4662,0.51,0.59,0.48,,,,,,,,,,,,,,,,
missense_variant,ANKRD6,MISSENSE,NM_001242809.1:p.Pro636Leu/c.1907C>T,cCc/cTc,MODERATE,COSM4004148(1),0.0888578,0.0476,rs386484307,0.15(T),"0.348,0.394,0.3,0.394(B,B,B,B)",1.39(L),-1.0336(T),,chr6,90340446,90340446,C,T,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro636Leu/c.1907C>T|727|ANKRD6|protein_coding|CODING|NM_001242809.1|16|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro636Leu/c.1907C>T|727|ANKRD6|protein_coding|CODING|NM_001242811.1|16|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro601Leu/c.1802C>T|692|ANKRD6|protein_coding|CODING|NM_001242813.1|15|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro572Leu/c.1715C>T|663|ANKRD6|protein_coding|CODING|NM_001242814.1|13|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro631Leu/c.1892C>T|722|ANKRD6|protein_coding|CODING|NM_014942.4|16|1),downstream_gene_variant(MODIFIER||1497||88|LYRM2|protein_coding|CODING|NM_020466.4||1),downstream_gene_variant(MODIFIER||1497|||LYRM2||CODING|NR_028493.1||1),downstream_gene_variant(MODIFIER||1497|||LYRM2||CODING|NR_028494.1||1),downstream_gene_variant(MODIFIER||1497|||LYRM2||CODING|NR_028495.1||1)","H1ESC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1779,0.0865,0.1551,0.10,0.02,0.14,,0.107261(N),1.000(P),"1.15,1.15,1.16,1.15,-0.32(T,T,T,T,T)",0.1120(T),0.146,0.675206,4.67,1.64,0.563000,0.668000,1.040000,0.002000,0.001000,0.003000,7.7072
missense_variant,MDN1,MISSENSE,NM_014611.2:p.Arg5298Cys/c.15892C>T,Cgt/Tgt,MODERATE,,,,,0.17(T),0.183(B),0.69(N),-1.0773(T),,chr6,90361934,90361934,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg5298Cys/c.15892C>T|5596|MDN1|protein_coding|CODING|NM_014611.2|95|1),intron_variant(MODIFIER|||n.105+13579G>A||LOC101929057||NON_CODING|NR_111915.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.023134(N),0.784(N),"0.99,0.99(T,T)",0.0395(T),0.127,2.331338,5.78,5.78,0.563000,2.724000,5.580000,0.672000,0.943000,0.998000,19.0021
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Ala4990Ala/c.14970C>T,gcC/gcT,LOW,,0.104034,0.0476,rs34732313,,,,,,chr6,90368380,90368380,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala4990Ala/c.14970C>T|5596|MDN1|protein_coding|CODING|NM_014611.2|89|1),intron_variant(MODIFIER|||n.106-16735G>A||LOC101929057||NON_CODING|NR_111915.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1789,0.085,0.1581,0.12,0.06,0.14,,,,,,,,,,,,,,,,
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Leu4887Leu/c.14661C>T,ctC/ctT,LOW,COSM4161385(1),0.725439,0.9167,rs386622648,,,,,,chr6,90371202,90371202,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu4887Leu/c.14661C>T|5596|MDN1|protein_coding|CODING|NM_014611.2|88|1),intron_variant(MODIFIER|||n.106-13913G>A||LOC101929057||NON_CODING|NR_111915.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5777,0.7824,0.6501,0.67,0.71,0.65,,,,,,,,,,,,,,,,
missense_variant,MDN1,MISSENSE,NM_014611.2:p.Asp4783Glu/c.14349T>G,gaT/gaG,MODERATE,COSM4004151(1),0.0888578,0.0476,rs36040566,0.77(T),0.004(B),-0.225(N),-0.9428(T),,chr6,90372574,90372574,A,C,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp4783Glu/c.14349T>G|5596|MDN1|protein_coding|CODING|NM_014611.2|86|1),intron_variant(MODIFIER|||n.106-12541A>C||LOC101929057||NON_CODING|NR_111915.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1789,0.085,0.1551,0.10,0.03,0.14,,0.016166(N),1.000(P),"3.99,3.99(T,T)",0.0010(T),0.069,1.022246,4.53,-6.99,-0.250000,-0.797000,-2.338000,0.866000,0.007000,0.000000,1.0429
missense_variant,MDN1,MISSENSE,NM_014611.2:p.Ala4044Ser/c.12130G>T,Gct/Tct,MODERATE,COSM3762220(2),0.611821,0.9077,rs9353689,0.81(T),0.048(B),1.355(L),-0.9169(T),,chr6,90390443,90390443,C,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala4044Ser/c.12130G>T|5596|MDN1|protein_coding|CODING|NM_014611.2|74|1),intron_variant(MODIFIER|||n.401-3245C>A||LOC101929057||NON_CODING|NR_111915.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.7046,0.4712,0.52,0.61,0.48,,0.598418(N),1.000(P),"4.07,4.07(T,T)",0.0033(T),0.06,0.652024,3.7,-0.328,-0.254000,-0.083000,-0.218000,0.030000,0.000000,0.000000,8.681
missense_variant,MDN1,MISSENSE,NM_014611.2:p.Ala3794Gly/c.11381C>G,gCt/gGt,MODERATE,,0.104034,0.0486,rs34766278,0.38(T),0.002(B),0.55(N),-0.9045(T),,chr6,90397132,90397132,G,C,het,"missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala3794Gly/c.11381C>G|5596|MDN1|protein_coding|CODING|NM_014611.2|68|1),non_coding_exon_variant(MODIFIER|||n.3081G>C||LOC101929057||NON_CODING|NR_111915.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.18,0.085,0.1551,0.12,0.06,0.14,,0.363178(N),1.000(P),"3.98,3.98(T,T)",0.0026(T),0.028,0.172802,6.07,3.36,-0.119000,0.455000,4.792000,0.075000,0.039000,0.981000,4.6655
missense_variant,MDN1,MISSENSE,NM_014611.2:p.His3423Tyr/c.10267C>T,Cac/Tac,MODERATE,COSM3762221(1),0.604433,0.9077,rs9294445,0.39(T),0.001(B),1.935(M),-0.9174(T),,chr6,90402482,90402482,G,A,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His3423Tyr/c.10267C>T|5596|MDN1|protein_coding|CODING|NM_014611.2|63|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.6988,0.4602,0.51,0.60,0.47,,0.004723(N),1.000(P),"4.09,4.09(T,T)",0.0040(T),0.035,-1.243550,5.1,3.31,-1.579000,0.280000,1.635000,0.004000,0.279000,0.961000,7.6737
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Leu3303Leu/c.9909G>C,ctG/ctC,LOW,,0.765375,0.9891,rs9351212,,,,,,chr6,90402840,90402840,C,G,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu3303Leu/c.9909G>C|5596|MDN1|protein_coding|CODING|NM_014611.2|63|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7014,0.8228,0.6471,0.80,0.79,0.80,,,,,,,,,,,,,,,,
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Leu3055Leu/c.9163T>C,Ttg/Ctg,LOW,COSM4004152(1),0.153754,0.0813,rs3736984,,,,,,chr6,90408589,90408589,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3055Leu/c.9163T>C|5596|MDN1|protein_coding|CODING|NM_014611.2|59|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.319,0.1225,0.1869,0.15,0.09,0.18,,,,,,,,,,,,,,,,
missense_variant,MDN1,MISSENSE,NM_014611.2:p.Glu3004Lys/c.9010G>A,Gaa/Aaa,MODERATE,COSM3762222(1),0.133387,0.2093,rs12530146,0.05(D),0.417(B),0.805(L),-0.8180(T),,chr6,90408742,90408742,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu3004Lys/c.9010G>A|5596|MDN1|protein_coding|CODING|NM_014611.2|59|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2035,0.0994,0.0626,0.08,0.09,0.07,,0.000106(D),0.000(P),"3.92,3.92(T,T)",0.0084(T),0.507,2.843402,6.17,6.17,0.655000,2.941000,6.189000,0.021000,0.916000,1.000000,20.4745
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Thr2617Thr/c.7851G>A,acG/acA,LOW,,0.881589,0.997,rs2026634,,,,,,chr6,90418262,90418262,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr2617Thr/c.7851G>A|5596|MDN1|protein_coding|CODING|NM_014611.2|51|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8967,0.902,0.838,0.82,0.80,0.83,,,,,,,,,,,,,,,,
missense_variant,MDN1,MISSENSE,NM_014611.2:p.Ser1559Asn/c.4676G>A,aGt/aAt,MODERATE,COSM4161387(1),0.878794,0.997,rs4140446,0.49(T),0.002(B),0.59(N),-0.9735(T),,chr6,90448092,90448092,C,T,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1559Asn/c.4676G>A|5596|MDN1|protein_coding|CODING|NM_014611.2|33|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8967,0.902,0.837,0.82,0.79,0.83,,0.422800(N),1.000(P),"1.09,1.09(T,T)",0.0208(T),0.003,0.971868,5.69,-2.32,-1.242000,-1.025000,0.515000,0.646000,0.001000,0.727000,9.4131
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Val1364Val/c.4092G>A,gtG/gtA,LOW,,0.00678914,0,rs149847666,,,,,,chr6,90455078,90455078,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1364Val/c.4092G>A|5596|MDN1|protein_coding|CODING|NM_014611.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.0204,0.0086,0.008,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,MDN1,SILENT,NM_014611.2:p.His1362His/c.4086T>C,caT/caC,LOW,,0.932308,0.997,rs9359861,,,,,,chr6,90455084,90455084,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His1362His/c.4086T>C|5596|MDN1|protein_coding|CODING|NM_014611.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.8978,0.928,0.837,0.88,0.96,0.83,,,,,,,,,,,,,,,,
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Ala1141Ala/c.3423C>T,gcC/gcT,LOW,,0.845248,0.9187,rs4053618,,,,,,chr6,90459454,90459454,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1141Ala/c.3423C>T|5596|MDN1|protein_coding|CODING|NM_014611.2|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.681,0.8703,0.8131,0.85,0.91,0.82,,,,,,,,,,,,,,,,
synonymous_variant,MDN1,SILENT,NM_014611.2:p.Asp409Asp/c.1227C>T,gaC/gaT,LOW,,0.0904553,0.0496,rs1036853,,,,,,chr6,90499502,90499502,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp409Asp/c.1227C>T|5596|MDN1|protein_coding|CODING|NM_014611.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1769,0.0922,0.1581,0.11,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,CASP8AP2,SILENT,NM_001137667.1:p.Lys93Lys/c.279A>G,aaA/aaG,LOW,,0.422923,0.3006,rs369328,,,,,,chr6,90565242,90565242,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys93Lys/c.279A>G|1966|CASP8AP2|protein_coding|CODING|NM_001137667.1|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys93Lys/c.279A>G|1966|CASP8AP2|protein_coding|CODING|NM_001137668.1|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys93Lys/c.279A>G|1966|CASP8AP2|protein_coding|CODING|NM_012115.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.59,0.3314,0.5417,0.45,0.36,0.50,,,,,,,,,,,,,,,,
synonymous_variant,EPHA7,SILENT,NM_004440.3:p.Pro805Pro/c.2415C>T,ccC/ccT,LOW,COSM1446486(1),,,,,,,,,chr6,93964482,93964482,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro800Pro/c.2400C>T|993|EPHA7|protein_coding|CODING|NM_001288629.1|14|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro805Pro/c.2415C>T|998|EPHA7|protein_coding|CODING|NM_004440.3|14|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,EPHA7,SILENT,NM_004440.3:p.Ser447Ser/c.1341T>C,agT/agC,LOW,,0.900359,0.8214,rs345713,,,,,,chr6,93982124,93982124,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser447Ser/c.1341T>C|993|EPHA7|protein_coding|CODING|NM_001288629.1|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser447Ser/c.1341T>C|998|EPHA7|protein_coding|CODING|NM_004440.3|6|1)",,,,,0.9284,0.817,0.8926,0.92,0.98,0.88,,,,,,,,,,,,,,,,
synonymous_variant,EPHA7,SILENT,NM_004440.3:p.Ala327Ala/c.981G>A,gcG/gcA,LOW,COSM3762229(1),0.730431,0.8294,rs164544,,,,,,chr6,94067981,94067981,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala327Ala/c.981G>A|993|EPHA7|protein_coding|CODING|NM_001288629.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala327Ala/c.981G>A|998|EPHA7|protein_coding|CODING|NM_004440.3|4|1)",,,,,0.6544,0.6455,0.5527,0.64,0.83,0.54,,,,,,,,,,,,,,,,
missense_variant,MANEA,MISSENSE,NM_024641.3:p.Phe344Ile/c.1030T>A,Ttt/Att,MODERATE,COSM3774267(1),0.0451278,0.0595,rs35772543,0.11(T),0.998(D),2.835(M),0.8737(D),,chr6,96053922,96053922,T,A,het,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe344Ile/c.1030T>A|462|MANEA|protein_coding|CODING|NM_024641.3|5|1),K562:H3K36me3,,,,0.0429,0.0605,0.0765,0.06,0.02,0.09,,0.000000(N),0.000(P),-3.08(D),0.8694(D),0.261,4.981294,6.17,6.17,0.533000,2.371000,7.603000,0.910000,0.915000,1.000000,16.0034
missense_variant,FUT9,MISSENSE,NM_006581.3:p.Thr237Ala/c.709A>G,Act/Gct,MODERATE,,0.898363,0.995,rs3811069,0.6(T),0.007(B),0.49(N),-0.9630(T),,chr6,96651740,96651740,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr237Ala/c.709A>G|359|FUT9|protein_coding|CODING|NM_006581.3|3|1),,,,,0.9714,0.9755,0.998,0.90,0.71,1.00,,0.000219(N),0.897(P),1.81(T),0.0104(T),0.039,1.233131,5.66,1.82,0.482000,0.990000,1.797000,0.996000,1.000000,1.000000,4.2834
synonymous_variant,UFL1,SILENT,NM_015323.4:p.Asp637Asp/c.1911C>T,gaC/gaT,LOW,COSM451949(3),0.326677,0.3075,rs1127175,,,,,,chr6,96999725,96999725,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp637Asp/c.1911C>T|794|UFL1|protein_coding|CODING|NM_015323.4|17|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3282,0.2911,0.3698,0.34,0.33,0.35,,,,,,,,,,,,,,,,
synonymous_variant,FHL5,SILENT,NM_001170807.1:p.Asn96Asn/c.288C>T,aaC/aaT,LOW,,0.136182,0.0357,rs2064947,,,,,,chr6,97052754,97052754,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn96Asn/c.288C>T|284|FHL5|protein_coding|CODING|NM_001170807.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn96Asn/c.288C>T|284|FHL5|protein_coding|CODING|NM_020482.4|4|1)",,,,,0.1616,0.1801,0.2117,0.17,0.11,0.19,,,,,,,,,,,,,,,,
missense_variant,FHL5,MISSENSE,NM_001170807.1:p.Arg204Gly/c.610A>G,Aga/Gga,MODERATE,COSM4004156(3),0.398163,0.3522,rs2273621,0.02(D),0.12(B),2.955(M),0.0655(D),,chr6,97058553,97058553,A,G,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg204Gly/c.610A>G|284|FHL5|protein_coding|CODING|NM_001170807.1|5|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg204Gly/c.610A>G|284|FHL5|protein_coding|CODING|NM_020482.4|6|1)",,,,,0.3558,0.3026,0.3519,0.39,0.51,0.33,,0.006702(N),0.127(P),"-2.32,-2.32,-2.33(D,D,D)",0.5732(D),0.27,2.958370,5.88,4.7,0.528000,1.019000,4.670000,0.896000,0.998000,1.000000,13.1274
synonymous_variant,FHL5,SILENT,NM_001170807.1:p.Pro208Pro/c.624A>G,ccA/ccG,LOW,COSM4161392(1),0.13758,0.0357,rs2273622,,,,,,chr6,97058567,97058567,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro208Pro/c.624A>G|284|FHL5|protein_coding|CODING|NM_001170807.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro208Pro/c.624A>G|284|FHL5|protein_coding|CODING|NM_020482.4|6|1)",,,,,0.1646,0.183,0.2117,0.17,0.11,0.19,,,,,,,,,,,,,,,,
missense_variant,FHL5,MISSENSE,NM_001170807.1:p.Ser243Arg/c.729C>G,agC/agG,MODERATE,COSM4004157(1),0.381989,0.3502,rs9373985,1(T),0.001(B),-1.8(N),-1.0355(T),,chr6,97063522,97063522,C,G,het,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser243Arg/c.729C>G|284|FHL5|protein_coding|CODING|NM_001170807.1|6|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser243Arg/c.729C>G|284|FHL5|protein_coding|CODING|NM_020482.4|7|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3528,0.2997,0.3479,0.38,0.49,0.33,,0.019718(N),0.553(P),"-2.2,-2.2(D,D)",0.0776(T),0.121,-0.375731,5.66,3.9,-0.136000,0.750000,0.065000,0.989000,1.000000,0.906000,8.5385
synonymous_variant,FHL5,SILENT,NM_001170807.1:p.Lys254Lys/c.762A>G,aaA/aaG,LOW,COSM4004158(1),0.384585,0.3522,rs9398148,,,,,,chr6,97063555,97063555,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys254Lys/c.762A>G|284|FHL5|protein_coding|CODING|NM_001170807.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys254Lys/c.762A>G|284|FHL5|protein_coding|CODING|NM_020482.4|7|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3538,0.2997,0.3489,0.39,0.49,0.33,,,,,,,,,,,,,,,,
missense_variant,GPR63,MISSENSE,NM_001143957.2:p.Val21Met/c.61G>A,Gtg/Atg,MODERATE,,0.0145767,0,rs35358396,0.06(T),0.116(B),0.345(N),-1.0971(T),,chr6,97247547,97247547,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val21Met/c.61G>A|419|GPR63|protein_coding|CODING|NM_001143957.2|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val21Met/c.61G>A|419|GPR63|protein_coding|CODING|NM_030784.3|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0259,0.0477,0.03,0.01,0.04,,0.335586(N),1.000(N),"0.03,0.03,0.03(T,T,T)",0.0393(T),0.05,-0.487707,5.15,1.33,-0.769000,0.290000,0.083000,0.015000,0.342000,0.038000,6.7606
synonymous_variant,NDUFAF4,SILENT,NM_014165.3:p.Leu144Leu/c.430T>C,Tta/Cta,LOW,COSM3762230(1),0.514976,0.755,rs6684,,,,,,chr6,97339078,97339078,A,G,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu144Leu/c.430T>C|175|NDUFAF4|protein_coding|CODING|NM_014165.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117707.2,,0.4673,0.5389,0.494,0.47,0.39,0.51,,,,,,,,,,,,,,,,
synonymous_variant,NDUFAF4,SILENT,NM_014165.3:p.Gln140Gln/c.420G>A,caG/caA,LOW,,0.933906,0.999,rs11402,,,,,,chr6,97339088,97339088,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln140Gln/c.420G>A|175|NDUFAF4|protein_coding|CODING|NM_014165.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117706.2,,0.9029,0.915,0.8668,0.89,0.95,0.86,,,,,,,,,,,,,,,,
synonymous_variant,KLHL32,SILENT,NM_052904.3:p.Val392Val/c.1176G>T,gtG/gtT,LOW,,0.0183706,0.001,rs74787311,,,,,,chr6,97562207,97562207,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val356Val/c.1068G>T|584|KLHL32|protein_coding|CODING|NM_001286250.1|6|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val323Val/c.969G>T|551|KLHL32|protein_coding|CODING|NM_001286251.1|5|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val392Val/c.1176G>T|620|KLHL32|protein_coding|CODING|NM_052904.3|7|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val392Val/c.1176G>T|470|KLHL32|protein_coding|CODING|NM_001286252.1|7|1),intron_variant(MODIFIER|||n.884-13073G>T||KLHL32||CODING|NR_104421.1|5|1),intron_variant(MODIFIER|||c.-38-13073G>T|156|KLHL32|protein_coding|CODING|NM_001286254.1|5|1),intron_variant(MODIFIER|||n.50-15409C>A||MIR548H3||NON_CODING|NR_031679.1|1|1)",CD4:H3K36me3,,,,0.0102,0.0375,0.0517,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,MMS22L,SILENT,NM_198468.2:p.Pro1060Pro/c.3180A>G,ccA/ccG,LOW,COSM4004160(1),0.510783,0.246,rs1209290,,,,,,chr6,97613163,97613163,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1060Pro/c.3180A>G|1243|MMS22L|protein_coding|CODING|NM_198468.2|21|1),intron_variant(MODIFIER|||n.50-66365A>G||MIR548H3||NON_CODING|NR_031679.1|1|1)","K562:H3K36me3,HMEC:H3K36me3",,,,0.5869,0.4078,0.497,0.57,0.68,0.51,,,,,,,,,,,,,,,,
missense_variant,MMS22L,MISSENSE,NM_198468.2:p.Val875Ala/c.2624T>C,gTt/gCt,MODERATE,,0.41254,0.245,rs1737145,0.27(T),"0.13,0.079(B,B)",1.78(L),-1.0572(T),,chr6,97626374,97626374,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val875Ala/c.2624T>C|1243|MMS22L|protein_coding|CODING|NM_198468.2|18|1),intron_variant(MODIFIER|||n.50-79576T>C||MIR548H3||NON_CODING|NR_031679.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3",,,,0.5429,0.3746,0.4662,0.46,0.43,0.47,,0.212352(N),0.955(P),"2.02,1.71(T,T)",0.0219(T),0.104,2.313357,5.87,3.37,-0.256000,1.052000,3.642000,0.610000,0.701000,0.984000,7.6263
missense_variant,MMS22L,MISSENSE,NM_198468.2:p.Thr564Met/c.1691C>T,aCg/aTg,MODERATE,COSM4004161(1),0.53095,0.2381,rs9481410,0.04(D),"0.809,0.656(P,P)",1.7(L),-1.0453(T),,chr6,97677118,97677118,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr564Met/c.1691C>T|1243|MMS22L|protein_coding|CODING|NM_198468.2|14|1),intron_variant(MODIFIER|||n.50-130320C>T||MIR548H3||NON_CODING|NR_031679.1|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6524,0.5519,0.7734,0.67,0.50,0.75,,0.049376(N),1.000(P),"1.53,1.53(T,T)",0.0712(T),0.105,1.074643,5.51,3.72,-0.820000,0.700000,0.402000,0.001000,0.002000,0.000000,10.5272
synonymous_variant,POU3F2,SILENT,NM_005604.3:p.Gly209Gly/c.627T>G,ggT/ggG,LOW,COSM3749991(8),0.890575,0.9544,rs195860,,,,,,chr6,99283376,99283376,T,G,het,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly209Gly/c.627T>G|443|POU3F2|protein_coding|CODING|NM_005604.3|1|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.8292,0.9121,0.8598,0.88,0.91,0.87,,,,,,,,,,,,,,,,
synonymous_variant,FAXC,SILENT,NM_032511.2:p.Thr201Thr/c.603A>G,acA/acG,LOW,,0.947284,0.999,rs221527,,,,,,chr6,99771540,99771540,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr201Thr/c.603A>G|409|FAXC|protein_coding|CODING|NM_032511.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.9744,0.8775,0.8539,0.88,0.97,0.84,,,,,,,,,,,,,,,,
missense_variant,COQ3,MISSENSE,NM_017421.3:p.Tyr329His/c.985T>C,Tat/Cat,MODERATE,,0.949081,1,rs4144164,1(T),0.0(B),-1.745(N),-0.9756(T),,chr6,99817601,99817601,A,G,hom,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr329His/c.985T>C|369|COQ3|protein_coding|CODING|NM_017421.3|7|1),,,,,1,0.9856,0.998,0.94,0.83,1.00,,0.000000(N),0.999(P),"2.13,1.66,1.66(T,T,T)",0.0066(T),0.155,0.353219,5.08,5.08,-0.128000,1.291000,4.794000,0.563000,1.000000,1.000000,14.1132
missense_variant,COQ3,MISSENSE,NM_017421.3:p.Ser272Gly/c.814A>G,Agt/Ggt,MODERATE,,0.836062,0.8641,rs6925344,0.9(T),0.0(B),-2.52(N),-0.9495(T),,chr6,99819379,99819379,T,C,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser272Gly/c.814A>G|369|COQ3|protein_coding|CODING|NM_017421.3|6|1),K562:H3K36me3,,,,0.9407,0.9121,0.826,0.79,0.71,0.84,,0.000011(N),1.000(P),"2.61,1.73,1.73(T,T,T)",0.0036(T),0.017,0.087491,5.23,4.36,-0.213000,0.712000,2.050000,0.891000,0.449000,0.997000,11.9053
missense_variant,COQ3,MISSENSE,NM_017421.3:p.Lys134Glu/c.400A>G,Aaa/Gaa,MODERATE,,0.318291,0.496,rs11548336,0.4(T),0.028(B),0.685(N),-0.9809(T),,chr6,99825348,99825348,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys134Glu/c.400A>G|369|COQ3|protein_coding|CODING|NM_017421.3|4|1),,,,,0.3231,0.2017,0.3151,0.29,0.27,0.30,,0.000085(D),0.000(P),2.59(T),0.0115(T),0.146,2.802452,5.61,5.61,0.477000,2.147000,6.681000,0.988000,1.000000,1.000000,14.3797
synonymous_variant,USP45,SILENT,NM_001080481.1:p.Ala781Ala/c.2343A>G,gcA/gcG,LOW,COSM150143(3),0.291933,0.503,rs9402791,,,,,,chr6,99883694,99883694,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala781Ala/c.2343A>G|814|USP45|protein_coding|CODING|NM_001080481.1|18|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3722,0.3184,0.2207,0.17,0.13,0.19,,,,,,,,,,,,,,,,
missense_variant,USP45,MISSENSE,NM_001080481.1:p.Asn778Ser/c.2333A>G,aAt/aGt,MODERATE,,0.985024,1,rs6570065,0.77(T),"0.0,0.0(B,B)",-1.39(N),-0.9416(T),,chr6,99883704,99883704,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn778Ser/c.2333A>G|814|USP45|protein_coding|CODING|NM_001080481.1|18|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9928,1,0.98,0.94,1.00,,0.008902(N),0.000(P),"1.54,3.77,3.77,1.54,1.54(T,T,T,T,T)",0.0063(T),0.005,0.335299,5.75,4.88,-0.119000,0.784000,1.694000,0.169000,0.497000,0.688000,6.8862
synonymous_variant,USP45,SILENT,NM_001080481.1:p.Gly570Gly/c.1710A>G,ggA/ggG,LOW,COSM4004165(2),0.350839,0.4871,rs4504482,,,,,,chr6,99893938,99893938,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly570Gly/c.1710A>G|814|USP45|protein_coding|CODING|NM_001080481.1|14|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4162,0.3689,0.331,0.27,0.23,0.30,,,,,,,,,,,,,,,,
missense_variant,USP45,MISSENSE,NM_001080481.1:p.Lys67Glu/c.199A>G,Aaa/Gaa,MODERATE,COSM150144(1),0.329872,0.5546,rs7744845,0.4(T),"0.999,0.999(D,D)",2.83(M),-0.6878(T),,chr6,99956560,99956560,T,C,hom,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys67Glu/c.199A>G|814|USP45|protein_coding|CODING|NM_001080481.1|3|1),"K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4468,0.3501,0.327,0.23,0.11,0.29,,0.000024(D),0.000(P),"0.99,0.99,0.99,0.99,0.99,0.99(T,T,T,T,T,T)",0.2143(T),0.409,4.478488,5.35,5.35,0.402000,2.036000,7.207000,0.921000,1.000000,1.000000,14.9824
missense_variant,SIM1,MISSENSE,NM_005068.2:p.Ala371Val/c.1112C>T,gCc/gTc,MODERATE,COSM150145(2),0.178514,0.4067,rs3734355,0.31(T),0.007(B),0.55(N),-0.9973(T),,chr6,100868721,100868721,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala371Val/c.1112C>T|766|SIM1|protein_coding|CODING|NM_005068.2|9|1),"GM06990:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1881,0.2089,0.1471,0.10,0.03,0.14,,0.788056(N),0.807(P),"1.41,1.41(T,T)",0.0170(T),0.035,2.722664,5.8,2.86,-0.157000,1.466000,1.394000,0.987000,1.000000,0.941000,4.3759
missense_variant,SIM1,MISSENSE,NM_005068.2:p.Pro352Thr/c.1054C>A,Cca/Aca,MODERATE,COSM150146(3),0.178115,0.4067,rs3734354,0.14(T),0.017(B),1.59(L),-0.9785(T),,chr6,100868779,100868779,G,T,het,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro352Thr/c.1054C>A|766|SIM1|protein_coding|CODING|NM_005068.2|9|1),"GM06990:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1881,0.2089,0.1471,0.10,0.03,0.14,,0.000176(D),0.000(P),"3.81,3.81(T,T)",0.0108(T),0.408,3.320485,5.8,5.8,0.650000,2.752000,6.059000,0.981000,1.000000,1.000000,20.0567
missense_variant,ASCC3,MISSENSE,NM_006828.3:p.Ser1995Cys/c.5984C>G,tCc/tGc,MODERATE,COSM1132075(4),0.767772,0.7857,rs240780,0.24(T),0.0(B),0(N),-1.1000(T),,chr6,100964147,100964147,G,C,het,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser1995Cys/c.5984C>G|2202|ASCC3|protein_coding|CODING|NM_006828.3|39|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8098,0.611,0.5795,0.68,0.87,0.58,,0.000002(N),0.000(P),-0.19(T),0.0613(T),0.064,1.340708,4.96,4.96,-0.352000,1.244000,3.029000,0.503000,1.000000,1.000000,14.8991
synonymous_variant,ASCC3,SILENT,NM_006828.3:p.Pro1190Pro/c.3570T>C,ccT/ccC,LOW,COSM3761400(1),0.571286,0.7302,rs239239,,,,,,chr6,101094554,101094554,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1190Pro/c.3570T>C|2202|ASCC3|protein_coding|CODING|NM_006828.3|22|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3681,0.6153,0.5408,0.55,0.59,0.53,,,,,,,,,,,,,,,,
synonymous_variant,ASCC3,SILENT,NM_006828.3:p.Leu645Leu/c.1935C>T,ctC/ctT,LOW,COSM150147(3),0.458666,0.3135,rs41288423,,,,,,chr6,101166095,101166095,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu645Leu/c.1935C>T|731|ASCC3|protein_coding|CODING|NM_001284271.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu645Leu/c.1935C>T|2202|ASCC3|protein_coding|CODING|NM_006828.3|12|1)","NH-A:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6145,0.3948,0.4771,0.48,0.46,0.50,,,,,,,,,,,,,,,,
synonymous_variant,GRIK2,SILENT,NM_021956.4:p.Glu808Glu/c.2424G>A,gaG/gaA,LOW,COSM3761402(3),0.327476,0.3601,rs2227283,,,,,,chr6,102503317,102503317,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu808Glu/c.2424G>A|892|GRIK2|protein_coding|CODING|NM_001166247.1|15|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu808Glu/c.2424G>A|908|GRIK2|protein_coding|CODING|NM_021956.4|15|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu808Glu/c.2424G>A|869|GRIK2|protein_coding|CODING|NM_175768.3|15|1)",,,RCV000117164.2,,0.2393,0.4107,0.4414,0.39,0.28,0.44,,,,,,,,,,,,,,,,
missense_variant,AIM1,MISSENSE,NM_001624.2:p.Cys491Arg/c.1471T>C,Tgc/Cgc,MODERATE,COSM3761410(1),0.174121,0.1161,rs3747787,0.37(T),0.002(B),0.6(N),-1.0904(T),,chr6,106967778,106967778,T,C,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys491Arg/c.1471T>C|1723|AIM1|protein_coding|CODING|NM_001624.2|2|1),"NHEK:H3K27ac,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,GM12878:Pax5,CD4:H2BK5ac,HeLa-S3:Jund,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,HSMM:H3K27ac,NHEK:H3K4me1,CD4:H2BK20ac,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,GM12878:BCLAF1,CD4:H3K27ac,GM12878:Yy1,IMR90:H2BK12ac,GM06990:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,GM12878:EBF,K562:Cjun,GM12878:IRF4,CD4:H3K36ac,GM12878:PolII,IMR90:H4K91ac,NHEK:H3K36me3,GM12878:BCL11A,CD4:H4K5ac,HepG2:H3K36me3,CD4:H3K4me2,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,IMR90:H2BK20ac,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,GM12878:Tcf12,K562:DNase1",,,,0.1728,0.1354,0.2515,0.22,0.17,0.24,,0.623317(N),1.000(P),-0.56(T),0.0561(T),0.055,1.330824,6.17,-5.75,0.533000,-0.749000,-0.826000,0.014000,0.000000,0.000000,2.4107
missense_variant,AIM1,MISSENSE,NM_001624.2:p.Glu1196Ala/c.3587A>C,gAa/gCa,MODERATE,,0.935903,0.9335,rs783396,0.49(T),0.005(B),0.805(L),-1.0702(T),,chr6,106987370,106987370,A,C,hom,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu1196Ala/c.3587A>C|1723|AIM1|protein_coding|CODING|NM_001624.2|7|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Stroke,,,0.9734,0.9222,0.9036,0.93,0.94,0.92,,0.219292(N),0.000(P),-0.82(T),0.1174(T),0.159,0.717543,5.66,0.517,-0.121000,-0.412000,0.938000,0.865000,0.310000,1.000000,16.1126
synonymous_variant,AIM1,SILENT,NM_001624.2:p.Lys1278Lys/c.3834A>G,aaA/aaG,LOW,,0.96885,1,rs1799693,,,,,,chr6,106992464,106992464,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1278Lys/c.3834A>G|1723|AIM1|protein_coding|CODING|NM_001624.2|10|1),"GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9836,0.9467,0.9016,0.94,0.99,0.92,,,,,,,,,,,,,,,,
missense_variant,AIM1,MISSENSE,NM_001624.2:p.Cys1395Tyr/c.4184G>A,tGt/tAt,MODERATE,COSM150149(2),0.199081,0.0565,rs2297970,0.22(T),"0.115,0.355(B,B)",0.515(N),-0.8591(T),,chr6,106999822,106999822,G,A,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys1395Tyr/c.4184G>A|1723|AIM1|protein_coding|CODING|NM_001624.2|12|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3609,0.1988,0.2873,0.25,0.15,0.31,,0.002062(N),0.140(P),"-0.95,-0.95,-0.95(T,T,T)",0.1541(T),0.345,1.432797,5.9,5.03,0.563000,1.489000,0.941000,0.997000,1.000000,1.000000,8.4927
synonymous_variant,QRSL1,SILENT,NM_018292.4:p.Leu475Leu/c.1425G>A,ctG/ctA,LOW,COSM4160102(1),0.333666,0.1617,rs2015205,,,,,,chr6,107113715,107113715,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu475Leu/c.1425G>A|528|QRSL1|protein_coding|CODING|NM_018292.4|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3589,0.402,0.4642,0.45,0.36,0.50,,,,,,,,,,,,,,,,
missense_variant,SOBP,MISSENSE,NM_018013.3:p.Ser683Gly/c.2047A>G,Agc/Ggc,MODERATE,COSM4160104(3),0.979633,1,rs9486659,0.61(T),0.0(B),-0.805(N),-1.0047(T),,chr6,107956095,107956095,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser683Gly/c.2047A>G|873|SOBP|protein_coding|CODING|NM_018013.3|6|1),"GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000118399.1,,0.9918,0.9841,0.9831,,,,,0.007236(N),1.000(P),1.51(T),0.0087(T),0.049,-0.985971,2.78,1.89,-0.511000,0.501000,2.736000,0.053000,0.896000,1.000000,4.5027
synonymous_variant,SCML4,SILENT,NM_198081.4:p.Pro398Pro/c.1194T>C,ccT/ccC,LOW,,0.899561,0.8998,rs1546960,,,,,,chr6,108026455,108026455,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro340Pro/c.1020T>C|356|SCML4|protein_coding|CODING|NM_001286408.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro156Pro/c.468T>C|172|SCML4|protein_coding|CODING|NM_001286409.1|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro398Pro/c.1194T>C|414|SCML4|protein_coding|CODING|NM_198081.4|8|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.9407,0.928,0.9274,0.89,0.84,0.91,,,,,,,,,,,,,,,,
synonymous_variant,SEC63,SILENT,NM_007214.4:p.Asn188Asn/c.564C>T,aaC/aaT,LOW,,0.855032,0.7113,rs675117,,,,,,chr6,108233929,108233929,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn188Asn/c.564C>T|760|SEC63|protein_coding|CODING|NM_007214.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081500.1,,0.8978,0.902,0.8479,0.88,0.90,0.86,,,,,,,,,,,,,,,,
synonymous_variant,FOXO3,SILENT,NM_001455.3:p.Ala53Ala/c.159C>T,gcC/gcT,LOW,,0.184305,0.0526,rs11757217,,,,,,chr6,108882570,108882570,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala53Ala/c.159C>T|673|FOXO3|protein_coding|CODING|NM_001455.3|1|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala53Ala/c.159C>T|673|FOXO3|protein_coding|CODING|NM_201559.2|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1247,0.2133,0.1829,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARMC2,SILENT,NM_032131.5:p.Ala593Ala/c.1779G>A,gcG/gcA,LOW,,0.0117812,0,rs41287540,,,,,,chr6,109274418,109274418,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala428Ala/c.1284G>A|702|ARMC2|protein_coding|CODING|NM_001286609.1|12|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala593Ala/c.1779G>A|867|ARMC2|protein_coding|CODING|NM_032131.5|13|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0307,0.0144,0.0179,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,LOC100996634,MISSENSE,NM_001277339.1:p.Asp363Gly/c.1088A>G,gAc/gGc,MODERATE,,0.647963,0.5317,rs1040285,,,,,,chr6,109583186,109583186,A,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp363Gly/c.1088A>G|592|LOC100996634|protein_coding|CODING|NM_001277339.1|7|1),HepG2:H3K36me3,,,,0.7393,0.7104,0.7803,,,,,,,,,,,,,,,,,,,
missense_variant,PPIL6,MISSENSE,NM_001111298.2:p.Arg200Gln/c.599G>A,cGa/cAa,MODERATE,COSM1071962(1),,,rs143614248,0.01(D),"0.908,0.606,0.666(P,P,P)",3.775(H),0.0305(D),,chr6,109748082,109748082,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg200Gln/c.599G>A|337|PPIL6|protein_coding|CODING|NM_001111298.2|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg168Gln/c.503G>A|279|PPIL6|protein_coding|CODING|NM_001286360.1|4|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg168Gln/c.503G>A|199|PPIL6|protein_coding|CODING|NM_001286361.1|4|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg200Gln/c.599G>A|311|PPIL6|protein_coding|CODING|NM_173672.4|5|1),non_coding_exon_variant(MODIFIER|||n.1180G>A||PPIL6||CODING|NR_104429.1|5|1)",,,,,,,,0.00,0.00,0.00,,0.000032(N),1.000(D),"-0.08,-0.08,-0.08,-0.08(T,T,T,T)",0.4299(T),0.715,4.282134,4.83,3.92,0.655000,1.050000,5.045000,0.494000,0.989000,1.000000,10.9364
missense_variant,SMPD2,MISSENSE,NM_003080.2:p.Arg265Ser/c.795G>T,agG/agT,MODERATE,COSM450298(1),0.552915,0.4534,rs1476387,,,0.345(N),-1.0038(T),,chr6,109764535,109764535,G,T,het,"missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg265Ser/c.795G>T|423|SMPD2|protein_coding|CODING|NM_003080.2|9|1),downstream_gene_variant(MODIFIER||731||981|MICAL1|protein_coding|CODING|NM_001159291.1||1),downstream_gene_variant(MODIFIER||731||1086|MICAL1|protein_coding|CODING|NM_001286613.1||1),downstream_gene_variant(MODIFIER||731||1067|MICAL1|protein_coding|CODING|NM_022765.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.5501,0.4928,0.4314,0.51,0.70,0.42,,,1.000(P),,0.0734(T),.,-2.274012,5.95,-7.33,-3.969000,-1.675000,-0.424000,0.013000,0.000000,0.000000,3.582
synonymous_variant,MICAL1,SILENT,NM_001286613.1:p.Ala777Ala/c.2331G>A,gcG/gcA,LOW,,0.00459265,0,rs41288556,,,,,,chr6,109767929,109767929,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala672Ala/c.2016G>A|981|MICAL1|protein_coding|CODING|NM_001159291.1|17|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala777Ala/c.2331G>A|1086|MICAL1|protein_coding|CODING|NM_001286613.1|18|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala758Ala/c.2274G>A|1067|MICAL1|protein_coding|CODING|NM_022765.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0072,0.0109,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,MICAL1,MISSENSE,NM_001286613.1:p.Ala777Glu/c.2330C>A,gCg/gAg,MODERATE,,0.557109,0.4514,rs9320288,1(T),"0.0,0.0(B,B)",-1.845(N),-0.9415(T),,chr6,109767930,109767930,G,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala672Glu/c.2015C>A|981|MICAL1|protein_coding|CODING|NM_001159291.1|17|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala777Glu/c.2330C>A|1086|MICAL1|protein_coding|CODING|NM_001286613.1|18|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala758Glu/c.2273C>A|1067|MICAL1|protein_coding|CODING|NM_022765.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5521,0.4971,0.4453,0.48,0.68,0.38,,0.349545(N),1.000(P),"0.76,0.75,0.76(T,T,T)",0.0091(T),0.135,-1.100897,4.88,2.24,-1.489000,0.400000,1.565000,0.000000,0.001000,0.007000,10.2069
missense_variant,MICAL1,MISSENSE,NM_001286613.1:p.Ala777Thr/c.2329G>A,Gcg/Acg,MODERATE,COSM3761416(1),0.311302,0.3482,rs59056467,0.48(T),"0.001,0.0(B,B)",0(N),-1.0068(T),,chr6,109767931,109767931,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala672Thr/c.2014G>A|981|MICAL1|protein_coding|CODING|NM_001159291.1|17|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala777Thr/c.2329G>A|1086|MICAL1|protein_coding|CODING|NM_001286613.1|18|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala758Thr/c.2272G>A|1067|MICAL1|protein_coding|CODING|NM_022765.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3875,0.3156,0.3519,0.23,0.17,0.26,,0.349545(N),1.000(P),"0.7,0.7,0.7(T,T,T)",0.0208(T),0.087,0.899389,4.23,2.43,-0.314000,0.720000,0.504000,0.000000,0.001000,0.003000,5.1073
synonymous_variant,MICAL1,SILENT,NM_001286613.1:p.Tyr755Tyr/c.2265C>T,taC/taT,LOW,,0.551518,0.4504,rs910730,,,,,,chr6,109768295,109768295,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr650Tyr/c.1950C>T|981|MICAL1|protein_coding|CODING|NM_001159291.1|16|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr755Tyr/c.2265C>T|1086|MICAL1|protein_coding|CODING|NM_001286613.1|17|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr736Tyr/c.2208C>T|1067|MICAL1|protein_coding|CODING|NM_022765.3|17|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5481,0.4928,0.4284,0.51,0.70,0.42,,,,,,,,,,,,,,,,
synonymous_variant,MICAL1,SILENT,NM_001286613.1:p.Thr494Thr/c.1482C>T,acC/acT,LOW,,0.038738,0,rs386507284,,,,-1.0107(T),,chr6,109770869,109770869,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr389Thr/c.1167C>T|981|MICAL1|protein_coding|CODING|NM_001159291.1|9|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr494Thr/c.1482C>T|1086|MICAL1|protein_coding|CODING|NM_001286613.1|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr475Thr/c.1425C>T|1067|MICAL1|protein_coding|CODING|NM_022765.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.0153,0.1715,0.0557,0.05,0.01,0.06,,,0.000(P),,0.0315(T),.,1.206611,5.24,-2.38,0.655000,-0.268000,-0.905000,0.999000,0.985000,0.000000,5.3913
synonymous_variant,MICAL1,SILENT,NM_001286613.1:p.Ser7Ser/c.21A>G,tcA/tcG,LOW,COSM4160113(1),0.553714,0.4554,rs2277113,,,,,,chr6,109775436,109775436,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser7Ser/c.21A>G|1086|MICAL1|protein_coding|CODING|NM_001286613.1|2|1),5_prime_UTR_variant(MODIFIER||37|c.-37A>G|981|MICAL1|protein_coding|CODING|NM_001159291.1|2|1),5_prime_UTR_variant(MODIFIER||37|c.-37A>G|1067|MICAL1|protein_coding|CODING|NM_022765.3|2|1)","H1ESC:H3K36me3,GM12878:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,CD4:H2BK20ac,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K4me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.5501,0.4928,0.4314,0.54,0.71,0.44,,,,,,,,,,,,,,,,
missense_variant,AK9,MISSENSE,NM_001145128.2:p.Val1555Ile/c.4663G>A,Gta/Ata,MODERATE,,0.380391,0.378,rs2277114,,0.0(B),-1.04(N),-1.0786(T),,chr6,109827716,109827716,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1555Ile/c.4663G>A|1911|AK9|protein_coding|CODING|NM_001145128.2|35|1),HUVEC:H3K27me3,,,,0.4652,0.4092,0.4105,0.36,0.29,0.38,,,0.000(P),-1.14(T),0.0440(T),0.115,-0.041245,4.76,0.879,-1.087000,0.269000,1.754000,0.024000,0.978000,1.000000,1.7741
missense_variant,AK9,MISSENSE,NM_001145128.2:p.Pro815Ser/c.2443C>T,Cct/Tct,MODERATE,COSM4160114(1),0.161542,0.1637,rs10499052,,0.999(D),0.55(N),-0.6645(T),,chr6,109885475,109885475,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro815Ser/c.2443C>T|1911|AK9|protein_coding|CODING|NM_001145128.2|23|1),CD4:H3K36me3,,,,0.1789,0.1844,0.3002,0.22,0.06,0.29,,,0.000(P),-0.25(T),0.2725(T),0.125,4.505146,5.92,5.92,0.650000,2.801000,6.309000,0.881000,0.965000,1.000000,19.9123
synonymous_variant,AK9,SILENT,NM_001145128.2:p.Pro796Pro/c.2388A>G,ccA/ccG,LOW,,0.221645,0.3433,rs7757895,,,,,,chr6,109886005,109886005,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro796Pro/c.2388A>G|1911|AK9|protein_coding|CODING|NM_001145128.2|22|1),,,,,0.3221,0.2723,0.2197,0.18,0.06,0.24,,,,,,,,,,,,,,,,
missense_variant,AK9,MISSENSE,NM_001145128.2:p.Asp739Val/c.2216A>T,gAt/gTt,MODERATE,,0.244209,0.3433,rs12175588,,0.0(B),0.345(N),-1.0647(T),,chr6,109894773,109894773,T,A,het,missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp739Val/c.2216A>T|1911|AK9|protein_coding|CODING|NM_001145128.2|21|1),,,,,0.3221,0.2839,0.2197,0.20,0.12,0.24,,,1.000(P),-0.13(T),0.0346(T),0.065,3.539938,4.26,-2.13,-0.445000,-0.415000,0.167000,0.683000,0.000000,0.000000,2.0014
synonymous_variant,AK9,SILENT,NM_001145128.2:p.Leu376Leu/c.1128G>A,ttG/ttA,LOW,COSM450314(1),0.652157,0.8472,rs1406957,,,,,,chr6,109954252,109954252,C,T,hom,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu376Leu/c.1128G>A|421|AK9|protein_coding|CODING|NM_145025.4|12|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu376Leu/c.1128G>A|1911|AK9|protein_coding|CODING|NM_001145128.2|12|1)",,,,,0.8487,0.7305,0.6431,0.55,0.37,0.64,,,,,,,,,,,,,,,,
synonymous_variant,AK9,SILENT,NM_001145128.2:p.Leu314Leu/c.942A>G,ctA/ctG,LOW,COSM150161(1),0.244409,0.3433,rs9374111,,,,-0.9839(T),,chr6,109954518,109954518,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu314Leu/c.942A>G|1911|AK9|protein_coding|CODING|NM_001145128.2|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu314Leu/c.942A>G|421|AK9|protein_coding|CODING|NM_145025.4|11|1)",,,,,0.3221,0.2839,0.2197,0.19,0.13,0.23,,,0.000(P),,0.0169(T),.,-0.068715,5.76,-4.37,-1.064000,-0.398000,-0.982000,0.003000,0.001000,0.003000,2.143
synonymous_variant,FIG4,SILENT,NM_014845.5:p.Ser853Ser/c.2559G>A,tcG/tcA,LOW,,0.395767,0.5595,rs1127771,,,,,,chr6,110146303,110146303,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser853Ser/c.2559G>A|907|FIG4|protein_coding|CODING|NM_014845.5|23|1),"IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5736,0.451,0.4205,0.32,0.15,0.41,,,,,,,,,,,,,,,,
synonymous_variant,METTL24,SILENT,NM_001123364.1:p.Ala21Ala/c.63T>C,gcT/gcC,LOW,,0.524561,0.4712,rs62435951,,,,,,chr6,110679413,110679413,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala21Ala/c.63T>C|366|METTL24|protein_coding|CODING|NM_001123364.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,,,0.5583,0.5187,0.6252,0.40,0.33,0.43,,,,,,,,,,,,,,,,
missense_variant,DDO,MISSENSE,NM_003649.2:p.Val140Met/c.418G>A,Gtg/Atg,MODERATE,,0.00159744,0,rs141098854,0.13(T),0.675(P),1.54(L),-0.4671(T),,chr6,110726101,110726101,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val140Met/c.418G>A|369|DDO|protein_coding|CODING|NM_003649.2|4|1),intron_variant(MODIFIER|||c.365+3436G>A|310|DDO|protein_coding|CODING|NM_004032.2|3|1)","HeLa-S3:DNase1,HUVEC:H3K27me3,HepG2:H3K36me3",,,,0.0072,0.0014,0,0.00,0.00,0.00,,0.004021(N),1.000(N),"-1.49,-1.49(T,T)",0.3254(T),0.129,3.373277,5.62,4.64,0.561000,2.644000,0.465000,0.936000,0.995000,0.003000,6.0365
synonymous_variant,SLC16A10,SILENT,NM_018593.4:p.Ser133Ser/c.399C>T,agC/agT,LOW,,0.0299521,0.002,rs33965856,,,,-0.4073(T),,chr6,111493953,111493953,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser133Ser/c.399C>T|515|SLC16A10|protein_coding|CODING|NM_018593.4|2|1),IMR90:H3K27me3,,,,0.0389,0.0605,0.0666,0.05,0.01,0.07,,,1.000(D),,0.2240(T),.,1.304606,5.65,-8.6,-0.339000,-2.098000,-0.137000,0.972000,0.384000,0.239000,20.5759
synonymous_variant,KIAA1919,SILENT,NM_153369.2:p.Asp167Asp/c.501T>C,gaT/gaC,LOW,,0.42512,0.4335,rs11153279,,,,,,chr6,111587266,111587266,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp167Asp/c.501T>C|518|KIAA1919|protein_coding|CODING|NM_153369.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,K562:Cfos,NH-A:DNase1,IMR90:H3K36me3,K562:Cjun,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.5337,0.5476,0.672,0.52,0.19,0.70,,,,,,,,,,,,,,,,
synonymous_variant,REV3L,SILENT,NM_002912.4:p.Ser1495Ser/c.4485G>A,tcG/tcA,LOW,,0.586462,0.4534,rs455645,,,,,,chr6,111695073,111695073,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1417Ser/c.4251G>A|3052|REV3L|protein_coding|CODING|NM_001286431.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1417Ser/c.4251G>A|3052|REV3L|protein_coding|CODING|NM_001286432.1|15|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1495Ser/c.4485G>A|3130|REV3L|protein_coding|CODING|NM_002912.4|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.7435,0.7883,0.69,0.44,0.81,,,,,,,,,,,,,,,,
synonymous_variant,REV3L,SILENT,NM_002912.4:p.Val1430Val/c.4290G>A,gtG/gtA,LOW,,0.354034,0.4187,rs455732,,,,,,chr6,111695268,111695268,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1352Val/c.4056G>A|3052|REV3L|protein_coding|CODING|NM_001286431.1|16|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1352Val/c.4056G>A|3052|REV3L|protein_coding|CODING|NM_001286432.1|15|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1430Val/c.4290G>A|3130|REV3L|protein_coding|CODING|NM_002912.4|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.501,0.4337,0.496,0.39,0.13,0.53,,,,,,,,,,,,,,,,
missense_variant,REV3L,MISSENSE,NM_002912.4:p.Thr1224Ile/c.3671C>T,aCa/aTa,MODERATE,,0.586462,0.4534,rs386594115,1(T),0.0(B),-0.145(N),-0.9913(T),,chr6,111695887,111695887,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1146Ile/c.3437C>T|3052|REV3L|protein_coding|CODING|NM_001286431.1|16|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1146Ile/c.3437C>T|3052|REV3L|protein_coding|CODING|NM_001286432.1|15|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1224Ile/c.3671C>T|3130|REV3L|protein_coding|CODING|NM_002912.4|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.7435,0.7883,0.69,0.44,0.81,,0.871600(N),1.000(P),"5.02,5.02,5.02,4.92(T,T,T,T)",0.0008(T),0.026,-0.981858,5.32,1.45,-0.254000,-0.150000,0.615000,0.969000,0.025000,0.000000,10.5452
missense_variant,REV3L,MISSENSE,NM_002912.4:p.Tyr1156Cys/c.3467A>G,tAt/tGt,MODERATE,COSM3761432(1),0.0403355,0.001,rs458017,0.23(T),0.002(B),0.69(N),-0.9364(T),,chr6,111696091,111696091,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1078Cys/c.3233A>G|3052|REV3L|protein_coding|CODING|NM_001286431.1|16|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1078Cys/c.3233A>G|3052|REV3L|protein_coding|CODING|NM_001286432.1|15|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1156Cys/c.3467A>G|3130|REV3L|protein_coding|CODING|NM_002912.4|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0368,0.0677,0.0646,0.06,0.05,0.07,,0.042349(N),1.000(N),"4.83,4.83,4.83,4.73(T,T,T,T)",0.0013(T),0.079,-1.355458,5.73,-4.51,-1.017000,-0.810000,0.030000,0.003000,0.000000,0.428000,7.2949
synonymous_variant,REV3L,SILENT,NM_002912.4:p.Leu1101Leu/c.3301C>T,Ctg/Ttg,LOW,COSM4003650(1),0.586661,0.4534,rs386594057,,,,,,chr6,111696257,111696257,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1023Leu/c.3067C>T|3052|REV3L|protein_coding|CODING|NM_001286431.1|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1023Leu/c.3067C>T|3052|REV3L|protein_coding|CODING|NM_001286432.1|15|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1101Leu/c.3301C>T|3130|REV3L|protein_coding|CODING|NM_002912.4|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.7435,0.7893,0.69,0.44,0.81,,,,,,,,,,,,,,,,
synonymous_variant,REV3L,SILENT,NM_002912.4:p.Gly902Gly/c.2706A>G,ggA/ggG,LOW,COSM4003652(2),0.354233,0.4187,rs458486,,,,,,chr6,111696852,111696852,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly824Gly/c.2472A>G|3052|REV3L|protein_coding|CODING|NM_001286431.1|16|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly824Gly/c.2472A>G|3052|REV3L|protein_coding|CODING|NM_001286432.1|15|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly902Gly/c.2706A>G|3130|REV3L|protein_coding|CODING|NM_002912.4|14|1)","NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.501,0.4337,0.497,0.39,0.13,0.53,,,,,,,,,,,,,,,,
missense_variant,TRAF3IP2,MISSENSE,NM_147686.3:p.His323Gln/c.969C>A,caC/caA,MODERATE,,0.931709,0.999,rs1043730,1(T),"0.0,0.0,0.0(B,B,B)",-1.995(N),-0.9457(T),,chr6,111901453,111901453,G,T,het,"missense_variant(MODERATE|MISSENSE|caC/caA|p.His323Gln/c.969C>A|564|TRAF3IP2|protein_coding|CODING|NM_001164281.2|3|1),missense_variant(MODERATE|MISSENSE|caC/caA|p.His323Gln/c.969C>A|565|TRAF3IP2|protein_coding|CODING|NM_147686.3|3|1),intron_variant(MODIFIER|||n.195-17588G>T||TRAF3IP2-AS1||NON_CODING|NR_034109.1|1|1),intron_variant(MODIFIER|||n.485+3780G>T||TRAF3IP2-AS1||NON_CODING|NR_034108.1|3|1),non_coding_exon_variant(MODIFIER|||n.1587C>A||TRAF3IP2||CODING|NR_028338.2|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9571,0.8963,0.7803,0.84,0.96,0.78,,0.038584(N),0.000(P),"1.66,1.66,1.66(T,T,T)",0.0037(T),0.054,-0.054687,5.99,3.55,-0.256000,0.141000,0.522000,0.905000,0.999000,1.000000,3.4568
missense_variant,TRAF3IP2,MISSENSE,NM_147686.3:p.Arg74Trp/c.220C>T,Cgg/Tgg,MODERATE,COSM3736397(2),0.0363419,0,rs13190932,0.03(D),"0.001,0.002,0.0(B,B,B)",0.345(N),-0.9290(T),,chr6,111913070,111913070,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg74Trp/c.220C>T|564|TRAF3IP2|protein_coding|CODING|NM_001164281.2|2|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg74Trp/c.220C>T|565|TRAF3IP2|protein_coding|CODING|NM_147686.3|2|1),intron_variant(MODIFIER|||n.195-5971G>A||TRAF3IP2-AS1||NON_CODING|NR_034109.1|1|1),intron_variant(MODIFIER|||n.486-5971G>A||TRAF3IP2-AS1||NON_CODING|NR_034108.1|3|1),non_coding_exon_variant(MODIFIER|||n.838C>T||TRAF3IP2||CODING|NR_028338.2|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:DNase1,IMR90:H2BK120ac,NH-A:H3K4me1,IMR90:H3K9ac,NHEK:PolII,HeLa-S3:Max,HSMM:H3K27ac,NHEK:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,IMR90:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,HMEC:H3K27ac,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,CD4:H3K36me3,HSMM:H3K4me1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,IMR90:H3K18ac,HepG2:DNase1,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.0348,0.0591,0.0676,0.05,0.04,0.06,,0.795720(N),1.000(N),"1.48,1.48,1.48(T,T,T)",0.0155(T),0.129,0.534567,5.55,-5.66,-0.254000,-1.092000,-0.970000,0.174000,0.000000,0.000000,9.5888
missense_variant,TRAF3IP2,MISSENSE,NM_147686.3:p.Asp10Asn/c.28G>A,Gat/Aat,MODERATE,COSM3736398(2),0.0836661,0.004,rs33980500,0(D),"0.999,1.0,0.996(D,D,D)",2.045(M),-0.6085(T),,chr6,111913262,111913262,C,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp10Asn/c.28G>A|564|TRAF3IP2|protein_coding|CODING|NM_001164281.2|2|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp10Asn/c.28G>A|565|TRAF3IP2|protein_coding|CODING|NM_147686.3|2|1),intron_variant(MODIFIER|||n.195-5779C>T||TRAF3IP2-AS1||NON_CODING|NR_034109.1|1|1),intron_variant(MODIFIER|||n.486-5779C>T||TRAF3IP2-AS1||NON_CODING|NR_034108.1|3|1),non_coding_exon_variant(MODIFIER|||n.646G>A||TRAF3IP2||CODING|NR_028338.2|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:DNase1,IMR90:H2BK120ac,NH-A:H3K4me1,IMR90:H3K9ac,HSMM:H3K27ac,NHEK:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,IMR90:H3K4me2,HMEC:H3K27ac,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,CD4:H3K36me3,HSMM:H3K4me1,IMR90:H3K27ac,HeLa-S3:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,IMR90:H3K18ac,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1","Psoriasis,Psoriatic_arthritis",RCV000023605.2,,0.0583,0.1196,0.0855,0.10,0.14,0.08,,0.000001(D),0.000(P),"0.66,0.64,0.62(T,T,T)",0.2448(T),0.14,4.785261,5.5,5.5,0.561000,2.588000,5.038000,0.994000,0.998000,0.998000,17.5816
missense_variant,WISP3,MISSENSE,NM_198239.1:p.Gln74His/c.222G>T,caG/caT,MODERATE,,0.298922,0.3313,rs1230345,0.13(T),"0.0,0.0(B,B)",0.205(N),-1.0872(T),,chr6,112382313,112382313,G,T,het,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln56His/c.168G>T|354|WISP3|protein_coding|CODING|NM_003880.3|3|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln74His/c.222G>T|372|WISP3|protein_coding|CODING|NM_198239.1|2|1),non_coding_exon_variant(MODIFIER|||n.358G>T||WISP3||CODING|NR_125353.1|2|1),non_coding_exon_variant(MODIFIER|||n.278G>T||WISP3||CODING|NR_125354.1|3|1)",HMEC:H3K36me3,,,,0.1299,0.2392,0.2465,0.34,0.45,0.28,,0.067100(N),1.000(P),"0.35,0.35,0.35,0.35(T,T,T,T)",0.0255(T),0.088,-0.960165,3.77,-7.25,-0.362000,-1.590000,-0.729000,0.006000,0.000000,0.000000,3.0603
missense_variant,TUBE1,MISSENSE,NM_016262.4:p.His251Tyr/c.751C>T,Cat/Tat,MODERATE,,0.00239617,0,rs141127175,0(D),0.024(B),0.55(N),-0.9554(T),,chr6,112397201,112397201,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His251Tyr/c.751C>T|475|TUBE1|protein_coding|CODING|NM_016262.4|8|1),"NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0031,0.0058,0.005,0.00,0.00,0.00,,0.293673(N),0.976(D),-0.27(T),0.0937(T),0.059,0.562417,5.81,3.97,-0.142000,1.458000,4.166000,0.028000,0.004000,1.000000,10.2134
synonymous_variant,LAMA4,SILENT,NM_001105206.2:p.Val1720Val/c.5160T>A,gtT/gtA,LOW,,0.281749,0.3571,rs1050353,,,,,,chr6,112435912,112435912,A,T,hom,"synonymous_variant(LOW|SILENT|gtT/gtA|p.Val1720Val/c.5160T>A|1823|LAMA4|protein_coding|CODING|NM_001105206.2|37|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val1713Val/c.5139T>A|1816|LAMA4|protein_coding|CODING|NM_001105207.2|37|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val1713Val/c.5139T>A|1816|LAMA4|protein_coding|CODING|NM_002290.4|37|1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,RCV000037389.1|RCV000126534.1,,0.1718,0.2392,0.2634,0.30,0.34,0.29,,,,,,,,,,,,,,,,
missense_variant,LAMA4,MISSENSE,NM_001105206.2:p.Pro1119Arg/c.3356C>G,cCt/cGt,MODERATE,,0.210463,0.3601,rs1050349,0.22(T),"0.994,0.989(D,D)",1.65(L),-0.0795(T),,chr6,112457383,112457383,G,C,het,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro1119Arg/c.3356C>G|1823|LAMA4|protein_coding|CODING|NM_001105206.2|25|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro1112Arg/c.3335C>G|1816|LAMA4|protein_coding|CODING|NM_001105207.2|25|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro1112Arg/c.3335C>G|1816|LAMA4|protein_coding|CODING|NM_002290.4|25|1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,RCV000037365.1|RCV000126527.1,,0.1524,0.2104,0.2316,0.22,0.15,0.26,,0.000003(D),0.000(P),"-1.32,-1.32,-1.32,-1.32(T,T,T,T)",0.5674(D),0.777,3.663396,5.93,5.93,0.655000,2.805000,9.026000,0.415000,1.000000,1.000000,20.3368
missense_variant,LAMA4,MISSENSE,NM_001105206.2:p.Gly1117Ser/c.3349G>A,Ggt/Agt,MODERATE,,0.839856,0.873,rs2032567,1(T),"0.0,0.0(B,B)",0.205(N),-1.0817(T),,chr6,112457390,112457390,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1117Ser/c.3349G>A|1823|LAMA4|protein_coding|CODING|NM_001105206.2|25|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1110Ser/c.3328G>A|1816|LAMA4|protein_coding|CODING|NM_001105207.2|25|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1110Ser/c.3328G>A|1816|LAMA4|protein_coding|CODING|NM_002290.4|25|1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,RCV000037364.1|RCV000126526.1,,0.8926,0.83,0.7087,0.75,0.86,0.70,,0.052408(N),0.000(P),"-1.16,-1.16,-1.16,-1.16(T,T,T,T)",0.0946(T),0.077,0.639686,5.93,5.93,-0.254000,1.068000,3.709000,0.411000,0.993000,1.000000,12.152
missense_variant,LAMA4,MISSENSE,NM_001105206.2:p.Tyr498His/c.1492T>C,Tat/Cat,MODERATE,COSM3761440(2),0.758387,0.8135,rs1050348,0.45(T),"0.0,0.0(B,B)",-0.755(N),-0.8995(T),,chr6,112493872,112493872,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr498His/c.1492T>C|1823|LAMA4|protein_coding|CODING|NM_001105206.2|12|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr491His/c.1471T>C|1816|LAMA4|protein_coding|CODING|NM_001105207.2|12|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr491His/c.1471T>C|1816|LAMA4|protein_coding|CODING|NM_002290.4|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000037336.1|RCV000126551.1,,0.8108,0.7205,0.6501,0.65,0.74,0.60,,0.487387(N),0.993(P),"2.95,2.95,2.95,2.95(T,T,T,T)",0.0035(T),0.035,-1.580269,5.51,4.63,-0.213000,0.799000,2.174000,0.202000,0.164000,0.986000,4.8815
synonymous_variant,LAMA4,SILENT,NM_001105206.2:p.Ala283Ala/c.849A>C,gcA/gcC,LOW,,1,1,rs9387061,,,,-0.9978(T),,chr6,112508769,112508769,T,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala283Ala/c.849A>C|1823|LAMA4|protein_coding|CODING|NM_001105206.2|8|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala276Ala/c.828A>C|1816|LAMA4|protein_coding|CODING|NM_001105207.2|8|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala276Ala/c.828A>C|1816|LAMA4|protein_coding|CODING|NM_002290.4|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,0.000(P),,0.0915(T),.,1.261508,5.9,5.04,-0.121000,0.861000,4.759000,0.630000,1.000000,1.000000,8.3201
missense_variant,LAMA4,MISSENSE,NM_001105206.2:p.Ala283Glu/c.848C>A,gCa/gAa,MODERATE,,1,1,rs9400522,0.08(T),"0.004,0.0(B,B)",0(N),-1.0352(T),,chr6,112508770,112508770,G,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala283Glu/c.848C>A|1823|LAMA4|protein_coding|CODING|NM_001105206.2|8|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala276Glu/c.827C>A|1816|LAMA4|protein_coding|CODING|NM_001105207.2|8|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala276Glu/c.827C>A|1816|LAMA4|protein_coding|CODING|NM_002290.4|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.000000(D),0.000(P),"2.71,2.7,2.7,2.7,1.78(T,T,T,T,T)",0.0478(T),0.356,3.396223,5.9,5.9,-0.256000,1.068000,4.601000,0.638000,0.998000,1.000000,13.4687
missense_variant,RFPL4B,MISSENSE,NM_001013734.2:p.Gly234Asp/c.701G>A,gGt/gAt,MODERATE,COSM3723349(1),0.163339,0.0367,rs11153361,0.62(T),0.001(B),0.475(N),-1.0454(T),,chr6,112671611,112671611,G,A,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly234Asp/c.701G>A|263|RFPL4B|protein_coding|CODING|NM_001013734.2|3|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1789,0.134,0.2286,0.22,0.22,0.22,,0.000000(N),1.000(P),-0.2(T),0.0296(T),0.085,-0.957504,3.92,-7.84,-1.523000,-3.102000,-1.890000,0.000000,0.000000,0.000000,2.0535
missense_variant,COL10A1,MISSENSE,NM_000493.3:p.Met27Thr/c.80T>C,aTg/aCg,MODERATE,COSM4003654(1),0.445487,0.2579,rs1064583,0.33(T),0.0(B),-1.735(N),-0.9651(T),,chr6,116446576,116446576,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met27Thr/c.80T>C|680|COL10A1|protein_coding|CODING|NM_000493.3|2|1),intron_variant(MODIFIER|||c.529+7468A>G|455|NT5DC1|protein_coding|CODING|NM_152729.2|6|1)",GM06990:H3K36me3,,,,0.3773,0.3329,0.3956,0.50,0.70,0.39,,0.055291(N),0.011(P),"-2.53,-2.53,-2.51,-0.36(D,D,D,T)",0.1334(T),0.364,-1.633148,6.06,6.06,-0.119000,1.593000,2.657000,0.004000,0.876000,0.995000,8.6061
missense_variant,TSPYL4,MISSENSE,NM_021648.4:p.Arg30Leu/c.89G>T,cGa/cTa,MODERATE,COSM3761444(2),0.883187,0.998,rs2232470,0.82(T),0.0(B),-0.41(N),-0.9609(T),,chr6,116575083,116575083,C,A,het,missense_variant(MODERATE|MISSENSE|cGa/cTa|p.Arg30Leu/c.89G>T|414|TSPYL4|protein_coding|CODING|NM_021648.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.9519,0.7896,0.661,0.73,0.91,0.64,,,1.000(P),1.81(T),0.0052(T),0.018,0.486619,4.3,-4.12,-0.525000,-1.168000,-0.926000,0.502000,0.000000,0.000000,2.2909
missense_variant,TSPYL4,MISSENSE,NM_021648.4:p.Ala19Asp/c.56C>A,gCt/gAt,MODERATE,,0.101637,0.1101,rs17524614,0.07(T),0.235(B),1.735(L),-1.0483(T),,chr6,116575116,116575116,G,T,het,missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala19Asp/c.56C>A|414|TSPYL4|protein_coding|CODING|NM_021648.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.09,0.2089,0.1501,0.09,0.03,0.12,,,1.000(P),1.72(T),0.0208(T),0.067,1.911171,4.12,1.34,0.462000,0.285000,0.137000,0.002000,0.000000,0.000000,4.1276
missense_variant,DSE,MISSENSE,NM_001080976.1:p.Thr25Ile/c.74C>T,aCc/aTc,MODERATE,,0.136581,0.0169,rs10485183,0.07(T),"0.16,0.048(B,B)",1.1(L),-1.0836(T),,chr6,116720487,116720487,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr25Ile/c.74C>T|958|DSE|protein_coding|CODING|NM_001080976.1|2|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr25Ile/c.74C>T|958|DSE|protein_coding|CODING|NM_013352.2|2|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K36me3,HSMM:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.2046,0.2734,0.26,0.14,0.32,,0.004734(N),0.000(P),"1.85,1.85,1.85,1.85,1.85(T,T,T,T,T)",0.0342(T),0.382,2.007432,5.65,4.77,0.655000,1.593000,0.555000,0.710000,0.234000,0.001000,16.6514
synonymous_variant,DSE,SILENT,NM_001080976.1:p.Asn642Asn/c.1926T>C,aaT/aaC,LOW,,0.976038,0.998,rs560644,,,,,,chr6,116757557,116757557,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn642Asn/c.1926T>C|958|DSE|protein_coding|CODING|NM_001080976.1|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn642Asn/c.1926T>C|958|DSE|protein_coding|CODING|NM_013352.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9888,0.9726,0.9155,0.95,0.99,0.93,,,,,,,,,,,,,,,,
missense_variant,FAM26F,MISSENSE,NM_001010919.2:p.Thr100Ala/c.298A>G,Acg/Gcg,MODERATE,COSM1173169(5),0.710663,0.8938,rs10784,0.71(T),0.0(B),-2.14(N),-0.9755(T),,chr6,116783390,116783390,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr100Ala/c.298A>G|315|FAM26F|protein_coding|CODING|NM_001010919.2|2|1),intron_variant(MODIFIER|||c.9+798A>G|143|FAM26F|protein_coding|CODING|NM_001276460.1|1|1)","HSMM:H2AZ,HUVEC:Max,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,GM12878:H2AZ,H1ESC:CTCF",,,,0.7311,0.7839,0.7326,0.71,0.62,0.75,,0.000002(N),1.000(P),2.39(T),0.0018(T),0.015,0.528183,4.09,-7.66,-1.288000,-2.581000,-5.113000,0.000000,0.000000,0.000000,2.2461
synonymous_variant,FAM26F,SILENT,NM_001010919.2:p.Ala115Ala/c.345C>G,gcC/gcG,LOW,,0.000599042,0,rs4354189,,,,,,chr6,116783437,116783437,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala115Ala/c.345C>G|315|FAM26F|protein_coding|CODING|NM_001010919.2|2|1),intron_variant(MODIFIER|||c.9+845C>G|143|FAM26F|protein_coding|CODING|NM_001276460.1|1|1)","HSMM:H2AZ,HUVEC:Max,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,NHEK:H3K27me3,GM12878:PolII,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,GM12878:H2AZ",,,,0,0.0029,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM26D,SILENT,NM_001256887.1:p.Leu14Leu/c.42G>A,ctG/ctA,LOW,,0.642572,0.8978,rs7762318,,,,,,chr6,116875427,116875427,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu14Leu/c.42G>A|171|FAM26D|protein_coding|CODING|NM_001256887.1|3|1),intron_variant(MODIFIER|||c.60-21G>A|170|FAM26D|protein_coding|CODING|NM_001256888.1|2|1),intron_variant(MODIFIER|||c.1-3561G>A|128|FAM26D|protein_coding|CODING|NM_001256889.1|2|1),intron_variant(MODIFIER|||c.1-3561G>A|128|FAM26D|protein_coding|CODING|NM_153036.3|2|1)",,,,,0.6462,0.7349,0.6123,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM26D,SILENT,NM_001256887.1:p.Leu144Leu/c.432G>A,ttG/ttA,LOW,,,,rs372694937,,,,,,chr6,116879290,116879290,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu144Leu/c.432G>A|171|FAM26D|protein_coding|CODING|NM_001256887.1|4|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu143Leu/c.429G>A|170|FAM26D|protein_coding|CODING|NM_001256888.1|4|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu101Leu/c.303G>A|128|FAM26D|protein_coding|CODING|NM_001256889.1|3|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu101Leu/c.303G>A|128|FAM26D|protein_coding|CODING|NM_153036.3|3|1)","HeLa-S3:DNase1,HeLa-S3:Max,NHEK:H3K4me1,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HeLa-S3:Cfos,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,FAM162B,MISSENSE,NM_001085480.2:p.Gln71His/c.213G>T,caG/caT,MODERATE,COSM4160144(1),0.0856629,0.0655,rs386603388,0.11(T),0.75(P),1.265(L),-1.0464(T),,chr6,117086378,117086378,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln71His/c.213G>T|162|FAM162B|protein_coding|CODING|NM_001085480.2|2|1),"HepG2:H3K4me2,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",Telomere_length,,,0.0276,0.1182,0.1491,0.14,0.09,0.16,,0.024604(N),1.000(P),1.48(T),0.0384(T),0.109,1.505972,3.65,-7.29,-1.069000,-1.544000,-2.282000,0.172000,0.346000,0.004000,11.3138
synonymous_variant,GPRC6A,SILENT,NM_148963.3:p.Pro811Pro/c.2433A>G,ccA/ccG,LOW,COSM150165(2),0.30631,0.5228,rs615199,,,,,,chr6,117113653,117113653,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro636Pro/c.1908A>G|751|GPRC6A|protein_coding|CODING|NM_001286354.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro740Pro/c.2220A>G|855|GPRC6A|protein_coding|CODING|NM_001286355.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro811Pro/c.2433A>G|926|GPRC6A|protein_coding|CODING|NM_148963.3|6|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.2556,0.3674,0.3082,0.28,0.17,0.33,,,,,,,,,,,,,,,,
synonymous_variant,GPRC6A,SILENT,NM_148963.3:p.Ala687Ala/c.2061C>T,gcC/gcT,LOW,COSM150166(3),0.320887,0.5228,rs6901250,,,,,,chr6,117114025,117114025,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala512Ala/c.1536C>T|751|GPRC6A|protein_coding|CODING|NM_001286354.1|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala616Ala/c.1848C>T|855|GPRC6A|protein_coding|CODING|NM_001286355.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala687Ala/c.2061C>T|926|GPRC6A|protein_coding|CODING|NM_148963.3|6|1)","HUVEC:H3K27me3,HepG2:H3K27me3",C_reactive_protein,,,0.2556,0.3703,0.3082,0.29,0.21,0.33,,,,,,,,,,,,,,,,
synonymous_variant,GPRC6A,SILENT,NM_148963.3:p.Thr621Thr/c.1863A>T,acA/acT,LOW,COSM4003658(1),0.320887,0.5228,rs6924002,,,,,,chr6,117114223,117114223,T,A,hom,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr446Thr/c.1338A>T|751|GPRC6A|protein_coding|CODING|NM_001286354.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr550Thr/c.1650A>T|855|GPRC6A|protein_coding|CODING|NM_001286355.1|5|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr621Thr/c.1863A>T|926|GPRC6A|protein_coding|CODING|NM_148963.3|6|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.2556,0.3703,0.3082,0.29,0.21,0.33,,,,,,,,,,,,,,,,
synonymous_variant,GPRC6A,SILENT,NM_148963.3:p.His561His/c.1683C>T,caC/caT,LOW,,0.6873,0.5536,rs6901971,,,,,,chr6,117114403,117114403,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His386His/c.1158C>T|751|GPRC6A|protein_coding|CODING|NM_001286354.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His490His/c.1470C>T|855|GPRC6A|protein_coding|CODING|NM_001286355.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His561His/c.1683C>T|926|GPRC6A|protein_coding|CODING|NM_148963.3|6|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.6115,0.7767,0.7296,0.75,0.77,0.75,,,,,,,,,,,,,,,,
synonymous_variant,GPRC6A,SILENT,NM_148963.3:p.His467His/c.1401C>T,caC/caT,LOW,,0.980831,1,rs6917467,,,,,,chr6,117121894,117121894,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His292His/c.876C>T|751|GPRC6A|protein_coding|CODING|NM_001286354.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His467His/c.1401C>T|926|GPRC6A|protein_coding|CODING|NM_148963.3|4|1),intron_variant(MODIFIER|||c.1336-4896C>T|855|GPRC6A|protein_coding|CODING|NM_001286355.1|3|1)",HUVEC:H3K27me3,,,,1,0.9928,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,GPRC6A,MISSENSE,NM_148963.3:p.Pro91Ser/c.271C>T,Cct/Tct,MODERATE,COSM150167(1),0.686302,0.5536,rs2274911,0.16(T),"0.001,0.001,0.015(B,B,B)",1.11(L),-0.9030(T),,chr6,117130704,117130704,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro91Ser/c.271C>T|751|GPRC6A|protein_coding|CODING|NM_001286354.1|2|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro91Ser/c.271C>T|855|GPRC6A|protein_coding|CODING|NM_001286355.1|2|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro91Ser/c.271C>T|926|GPRC6A|protein_coding|CODING|NM_148963.3|2|1)",HUVEC:H3K27me3,,,,0.6094,0.7723,0.7296,0.75,0.76,0.75,,0.001696(N),1.000(P),"-2.44,-2.44,-2.44(D,D,D)",0.2853(T),0.041,-0.158037,4.81,-0.33,-0.269000,-0.205000,0.089000,0.959000,0.635000,0.403000,6.1137
synonymous_variant,VGLL2,SILENT,NM_182645.3:p.His203His/c.609C>T,caC/caT,LOW,,,,,,,,,,chr6,117591923,117591923,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His203His/c.609C>T|317|VGLL2|protein_coding|CODING|NM_182645.3|3|1),intron_variant(MODIFIER|||c.392-1694C>T|143|VGLL2|protein_coding|CODING|NM_153453.1|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CEP85L,MISSENSE,NM_001178035.1:p.Pro254Thr/c.760C>A,Cct/Act,MODERATE,COSM3927828(2),0.606629,0.3185,rs3734382,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.59(N),-0.9688(T),,chr6,118886961,118886961,G,T,hom,"missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro251Thr/c.751C>A|805|CEP85L|protein_coding|CODING|NM_001042475.2|3|1),missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro254Thr/c.760C>A|808|CEP85L|protein_coding|CODING|NM_001178035.1|4|1),missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro251Thr/c.751C>A|496|CEP85L|protein_coding|CODING|NM_206921.2|3|1)","H1ESC:H3K36me3,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.6411,0.4971,0.7346,0.74,0.75,0.74,,0.547131(N),1.000(P),"3.28,3.27,2.69,2.42,2.11,2.43(T,T,T,T,T,T)",0.0028(T),0.227,-2.200275,6.07,-4.21,-0.986000,-1.045000,-0.202000,0.171000,0.066000,0.013000,7.9311
missense_variant,CEP85L,MISSENSE,NM_001178035.1:p.Ser140Gly/c.418A>G,Agt/Ggt,MODERATE,COSM3761465(3),0.436901,0.248,rs3734381,0.75(T),"0.0,0.002,0.001,0.0,0.002(B,B,B,B,B)",0.695(N),-0.9587(T),,chr6,118887303,118887303,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser137Gly/c.409A>G|805|CEP85L|protein_coding|CODING|NM_001042475.2|3|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser140Gly/c.418A>G|808|CEP85L|protein_coding|CODING|NM_001178035.1|4|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser137Gly/c.409A>G|496|CEP85L|protein_coding|CODING|NM_206921.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4642,0.2939,0.5368,0.54,0.55,0.53,,0.250545(N),1.000(P),"1.84,1.84,1.84,1.84,1.84,1.84(T,T,T,T,T,T)",0.0079(T),0.12,-0.321800,5.96,-2.65,-0.333000,-0.699000,0.109000,0.328000,0.000000,0.000000,1.1076
missense_variant,MCM9,MISSENSE,NM_017696.2:p.Met887Arg/c.2660T>G,aTg/aGg,MODERATE,,0.090655,0.0605,rs65685,0.59(T),,-0.895(N),-0.8921(T),,chr6,119136759,119136759,A,C,het,missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met887Arg/c.2660T>G|1143|MCM9|protein_coding|CODING|NM_017696.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1524,0.1037,0.1262,,,,,,1.000(P),3.98(T),0.0007(T),0.131,0.428846,6.03,-12.1,-0.177000,-2.074000,-1.254000,0.014000,0.000000,0.000000,0.0368
missense_variant,MCM9,MISSENSE,NM_017696.2:p.Cys558Ser/c.1673G>C,tGc/tCc,MODERATE,,0.911142,0.9395,rs284921,1(T),0.0(B),-1.81(N),-0.8190(T),,chr6,119149149,119149149,C,G,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys558Ser/c.1673G>C|1143|MCM9|protein_coding|CODING|NM_017696.2|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8476,0.8963,0.8738,,,,,0.063872(N),0.000(P),3.49(T),0.0020(T),0.033,-0.460198,5.62,2.73,-0.187000,0.314000,1.936000,0.522000,0.946000,1.000000,19.648
missense_variant,FAM184A,MISSENSE,NM_024581.5:p.Asp599Asn/c.1795G>A,Gat/Aat,MODERATE,,0.0806709,0.0704,rs17827619,0.33(T),"0.018,0.005,0.015(B,B,B)",0.46(N),-1.0620(T),,chr6,119327632,119327632,C,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp479Asn/c.1435G>A|971|FAM184A|protein_coding|CODING|NM_001100411.2|7|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp479Asn/c.1435G>A|936|FAM184A|protein_coding|CODING|NM_001288576.1|7|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp599Asn/c.1795G>A|1140|FAM184A|protein_coding|CODING|NM_024581.5|7|1)",,,,,0.136,0.0879,0.1014,0.10,0.05,0.13,,0.000003(D),0.000(P),"2.5,2.51,1.95,1.94,1.88(T,T,T,T,T)",0.0251(T),0.079,1.528683,5.85,5.85,0.655000,2.768000,2.811000,0.692000,1.000000,1.000000,20.1731
synonymous_variant,MAN1A1,SILENT,NM_005907.3:p.Ala478Ala/c.1434G>T,gcG/gcT,LOW,,0.679113,0.8343,rs2072890,,,,,,chr6,119510941,119510941,C,A,hom,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala478Ala/c.1434G>T|653|MAN1A1|protein_coding|CODING|NM_005907.3|10|1),"K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8282,0.6095,0.832,0.71,0.47,0.83,,,,,,,,,,,,,,,,
missense_variant,TBC1D32,MISSENSE,NM_152730.5:p.Ile599Val/c.1795A>G,Ata/Gta,MODERATE,COSM1132045(1),0.260783,0.1111,rs7745023,1(T),"0.001,0.002(B,B)",0.35(N),-0.9168(T),,chr6,121577370,121577370,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile599Val/c.1795A>G|1257|TBC1D32|protein_coding|CODING|NM_152730.5|16|1),non_coding_exon_variant(MODIFIER|||n.1883A>G||TBC1D32||CODING|NR_104452.1|16|1)",,,,,0.3517,0.2954,0.5855,0.44,0.13,0.58,,0.470190(N),0.997(P),"2.37,2.37(T,T)",0.0054(T),0.02,-0.315202,5.21,-0.469,-1.156000,0.057000,0.019000,0.460000,0.468000,0.857000,5.6919
missense_variant,TBC1D32,MISSENSE,NM_152730.5:p.Thr375Lys/c.1124C>A,aCg/aAg,MODERATE,,0.990016,1,rs9387944,1(T),0.001(B),-2.075(N),-0.9262(T),,chr6,121620608,121620608,G,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr375Lys/c.1124C>A|1257|TBC1D32|protein_coding|CODING|NM_152730.5|10|1),non_coding_exon_variant(MODIFIER|||n.1212C>A||TBC1D32||CODING|NR_104452.1|10|1)",,,,,1,0.9957,1,0.99,0.97,1.00,,0.000001(N),1.000(P),"2.62,2.62(T,T)",0.0023(T),0.094,-0.368086,4.83,4.83,-0.374000,0.794000,2.198000,0.975000,1.000000,1.000000,12.0402
synonymous_variant,TBC1D32,SILENT,NM_152730.5:p.Cys215Cys/c.645C>T,tgC/tgT,LOW,,0.315695,0.5863,rs386622355,,,,,,chr6,121629167,121629167,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys215Cys/c.645C>T|1257|TBC1D32|protein_coding|CODING|NM_152730.5|5|1),non_coding_exon_variant(MODIFIER|||n.733C>T||TBC1D32||CODING|NR_104452.1|5|1)",,,,,0.4703,0.2118,0.2644,0.22,0.13,0.26,,,,,,,,,,,,,,,,
missense_variant,SERINC1,MISSENSE,NM_020755.2:p.Ser181Leu/c.542C>T,tCg/tTg,MODERATE,,0.000399361,0,rs142096149,0.41(T),0.125(B),1.195(L),-1.0294(T),,chr6,122774962,122774962,G,A,het,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser181Leu/c.542C>T|453|SERINC1|protein_coding|CODING|NM_020755.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.001,0.00,0.00,0.00,,0.000000(D),1.000(D),"2.48,2.48(T,T)",0.0207(T),0.906,3.719950,5.44,5.44,0.655000,2.565000,9.869000,0.996000,0.994000,1.000000,19.2537
missense_variant,TRDN,MISSENSE,NM_006073.3:p.Ile438Ser/c.1313T>G,aTt/aGt,MODERATE,,0.939297,0.9196,rs2873479,0.7(T),"0.0,0.0(B,B)",0(N),-0.9295(T),,chr6,123687288,123687288,A,C,hom,"missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile439Ser/c.1316T>G|461|TRDN|protein_coding|CODING|NM_001251987.1|20|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile438Ser/c.1313T>G|729|TRDN|protein_coding|CODING|NM_006073.3|20|1)",,,,,0.9356,0.951,0.9215,0.93,0.95,0.92,,0.044041(N),0.000(P),"2.29,2.29(T,T)",0.0066(T),0.027,-0.327524,5.55,4.68,-0.825000,0.914000,2.341000,0.086000,0.764000,1.000000,7.7405
missense_variant,TRDN,MISSENSE,NM_006073.3:p.Leu201Val/c.601C>G,Ctg/Gtg,MODERATE,,0.843251,0.878,rs6902416,,,-0.69(N),-1.0299(T),,chr6,123833457,123833457,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu201Val/c.601C>G|461|TRDN|protein_coding|CODING|NM_001251987.1|7|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu201Val/c.601C>G|297|TRDN|protein_coding|CODING|NM_001256020.1|7|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu201Val/c.601C>G|286|TRDN|protein_coding|CODING|NM_001256021.1|7|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu201Val/c.601C>G|729|TRDN|protein_coding|CODING|NM_006073.3|7|1)",,,,,0.8374,0.8674,0.8588,0.84,0.80,0.86,,,1.000(P),,0.0489(T),.,-1.203884,4.6,-3.38,-0.224000,-0.748000,-1.604000,0.872000,0.002000,0.000000,1.9076
missense_variant,TRDN,MISSENSE,NM_006073.3:p.Thr128Ser/c.383C>G,aCt/aGt,MODERATE,,0.392971,0.0813,rs9490809,0.62(T),"0.036,0.443,0.026,0.026,0.038(B,B,B,B,B)",1.78(L),-1.0709(T),,chr6,123869607,123869607,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr128Ser/c.383C>G|461|TRDN|protein_coding|CODING|NM_001251987.1|3|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr128Ser/c.383C>G|297|TRDN|protein_coding|CODING|NM_001256020.1|3|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr128Ser/c.383C>G|286|TRDN|protein_coding|CODING|NM_001256021.1|3|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr128Ser/c.383C>G|167|TRDN|protein_coding|CODING|NM_001256022.1|3|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr128Ser/c.383C>G|729|TRDN|protein_coding|CODING|NM_006073.3|3|1)",HUVEC:H3K27me3,,,,0.4192,0.3372,0.5298,0.54,0.55,0.54,,0.362083(N),1.000(P),"0.58,0.58,0.58,-0.05(T,T,T,T)",0.0959(T),0.084,-1.141849,5.05,1.97,0.643000,0.376000,-0.006000,0.038000,0.170000,0.644000,4.2229
missense_variant,RNF217,MISSENSE,NM_001286398.1:p.Val256Ala/c.767T>C,gTg/gCg,MODERATE,,0.866414,0.8909,rs9401790,0.75(T),0.0(B),,-1.0846(T),,chr6,125284457,125284457,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val256Ala/c.767T>C|542|RNF217|protein_coding|CODING|NM_001286398.1|1|1),upstream_gene_variant(MODIFIER||284|||RNF217-AS1||NON_CODING|NR_026876.1||1)","NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,IMR90:H3K56ac,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,NHEK:H3K4me2,K562:H3K79me2,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.8814,0.9049,0.837,,,,,,0.051(P),,0.0358(T),0.082,1.864459,5.2,4.29,-0.213000,1.185000,.,0.957000,0.999000,.,11.6126
missense_variant,NCOA7,MISSENSE,NM_001199619.1:p.Ser399Ala/c.1195T>G,Tct/Gct,MODERATE,COSM4003675(1),0.478435,0.5903,rs6919947,1(T),"0.0,0.0,0.0(B,B,B)",-0.695(N),-1.0685(T),,chr6,126210395,126210395,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser399Ala/c.1195T>G|942|NCOA7|protein_coding|CODING|NM_001199619.1|10|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser399Ala/c.1195T>G|942|NCOA7|protein_coding|CODING|NM_001199620.1|11|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser399Ala/c.1195T>G|942|NCOA7|protein_coding|CODING|NM_181782.4|9|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser388Ala/c.1162T>G|931|NCOA7|protein_coding|CODING|NM_001122842.2|9|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser284Ala/c.850T>G|827|NCOA7|protein_coding|CODING|NM_001199621.1|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4162,0.4899,0.5189,0.48,0.43,0.50,,0.054209(N),1.000(P),"2.81,2.81,2.81,1.57(T,T,T,T)",0.0053(T),0.129,-2.154608,4.63,-7.76,-1.084000,-2.239000,-0.657000,0.010000,0.000000,0.000000,3.8292
missense_variant,HINT3,MISSENSE,NM_138571.4:p.Gly36Ala/c.107G>C,gGc/gCc,MODERATE,COSM450440(3),0.694688,0.9534,rs2295005,1(T),0.0(B),-0.895(N),-0.9011(T),,chr6,126278230,126278230,G,C,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly36Ala/c.107G>C|182|HINT3|protein_coding|CODING|NM_138571.4|1|1),"NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,CD4:H2BK20ac,K562:TFIIIC-110,H1ESC:H3K4me2,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.6411,0.6844,0.495,0.58,0.69,0.52,,0.148899(N),1.000(P),-2.74(D),0.1949(T),0.026,-0.007271,4.51,4.51,-0.371000,1.129000,0.449000,0.016000,0.016000,0.001000,11.9951
missense_variant,TRMT11,MISSENSE,NM_001031712.2:p.Ile306Val/c.916A>G,Att/Gtt,MODERATE,,0.0129792,0,rs116913944,,,0.415(N),-1.0810(T),,chr6,126332554,126332554,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile306Val/c.916A>G|463|TRMT11|protein_coding|CODING|NM_001031712.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0288,0.0388,0.04,0.01,0.05,,,1.000(D),,0.0138(T),.,2.836034,5.49,4.26,0.533000,2.089000,3.376000,0.974000,1.000000,1.000000,12.187
synonymous_variant,RSPO3,SILENT,NM_032784.4:p.Leu189Leu/c.567G>A,ctG/ctA,LOW,COSM1568095(3),0.532748,0.494,rs1892172,,,,,,chr6,127476516,127476516,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu189Leu/c.567G>A|272|RSPO3|protein_coding|CODING|NM_032784.4|4|1),"NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5245,0.5231,0.5,0.55,0.59,0.53,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0408,SILENT,NM_014702.4:p.Asn234Asn/c.702C>T,aaC/aaT,LOW,,0.413538,0.0655,rs6902288,,,,,,chr6,127768762,127768762,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn234Asn/c.702C>T|694|KIAA0408|protein_coding|CODING|NM_014702.4|5|1),3_prime_UTR_variant(MODIFIER||25664|c.*1023C>T|947|SOGA3|protein_coding|CODING|NM_001012279.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.3967,0.415,0.5606,0.59,0.58,0.59,,,,,,,,,,,,,,,,
missense_variant,KIAA0408,MISSENSE,NM_014702.4:p.Ser61Arg/c.181A>C,Agt/Cgt,MODERATE,,0.421326,0.0714,rs3734447,0.81(T),0.0(B),-1.7(N),-0.9876(T),,chr6,127771452,127771452,T,G,hom,"missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser61Arg/c.181A>C|694|KIAA0408|protein_coding|CODING|NM_014702.4|3|1),3_prime_UTR_variant(MODIFIER||22974|c.*502A>C|947|SOGA3|protein_coding|CODING|NM_001012279.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3",,,,0.4223,0.4236,0.5606,0.59,0.58,0.60,,,1.000(P),"1.03,1.03(T,T)",0.0058(T),0.404,-0.389154,5.7,0.0112,-0.744000,-0.150000,0.931000,0.099000,0.270000,0.038000,1.0242
synonymous_variant,SOGA3,SILENT,NM_001012279.2:p.Ala664Ala/c.1992C>T,gcC/gcT,LOW,COSM4003677(2),0.374401,0.7351,rs3734448,,,,,,chr6,127797179,127797179,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala664Ala/c.1992C>T|947|SOGA3|protein_coding|CODING|NM_001012279.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.32,0.4467,0.2406,0.23,0.21,0.25,,,,,,,,,,,,,,,,
synonymous_variant,SOGA3,SILENT,NM_001012279.2:p.Asn599Asn/c.1797C>T,aaC/aaT,LOW,COSM1440295(2),0.35004,0.7371,rs3734450,,,,,,chr6,127797374,127797374,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn599Asn/c.1797C>T|947|SOGA3|protein_coding|CODING|NM_001012279.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.2935,0.4424,0.2416,0.20,0.13,0.24,,,,,,,,,,,,,,,,
missense_variant,THEMIS,MISSENSE,NM_001164685.1:p.Ile669Val/c.2005A>G,Ata/Gta,MODERATE,COSM150180(1),0.457867,0.1081,rs675531,1(T),"0.0,0.0(B,B)",-0.69(N),-1.0178(T),,chr6,128040839,128040839,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile630Val/c.1888A>G|641|THEMIS|protein_coding|CODING|NM_001010923.2|5|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile669Val/c.2005A>G|680|THEMIS|protein_coding|CODING|NM_001164685.1|6|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile595Val/c.1783A>G|606|THEMIS|protein_coding|CODING|NM_001164687.1|5|1)","HUVEC:H3K27me3,CD4:H3K36me3",,,,0.2955,0.4035,0.6789,0.69,0.70,0.68,,0.031758(N),1.000(P),"2.29,2.17,2.29,2.29(T,T,T,T)",0.0041(T),0.048,-2.289485,6.05,-0.674,-0.128000,-0.265000,-0.546000,0.011000,0.000000,0.000000,0.673
synonymous_variant,THEMIS,SILENT,NM_001164685.1:p.Val367Val/c.1101G>C,gtG/gtC,LOW,,0.0365415,0.0099,rs10872326,,,,,,chr6,128134685,128134685,C,G,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val367Val/c.1101G>C|641|THEMIS|protein_coding|CODING|NM_001010923.2|4|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val367Val/c.1101G>C|680|THEMIS|protein_coding|CODING|NM_001164685.1|4|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val332Val/c.996G>C|606|THEMIS|protein_coding|CODING|NM_001164687.1|4|1)","HUVEC:H3K27me3,CD4:H4K8ac,CD4:H3K36me3,NHEK:H3K27me3,CD4:H4K5ac,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.0358,0.0303,0.0507,0.06,0.06,0.05,,,,,,,,,,,,,,,,
synonymous_variant,PTPRK,SILENT,NM_001291981.1:p.Leu674Leu/c.2022C>A,ctC/ctA,LOW,COSM3761476(2),0.245208,0.2411,rs35030557,,,,,,chr6,128388799,128388799,G,T,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu674Leu/c.2022C>A|1446|PTPRK|protein_coding|CODING|NM_001135648.2|12|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu674Leu/c.2022C>A|1462|PTPRK|protein_coding|CODING|NM_001291981.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu674Leu/c.2022C>A|876|PTPRK|protein_coding|CODING|NM_001291982.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu545Leu/c.1635C>A|761|PTPRK|protein_coding|CODING|NM_001291983.1|11|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu674Leu/c.2022C>A|1439|PTPRK|protein_coding|CODING|NM_001291984.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu674Leu/c.2022C>A|1440|PTPRK|protein_coding|CODING|NM_002844.3|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2157,0.4092,0.4334,0.32,0.10,0.43,,,,,,,,,,,,,,,,
synonymous_variant,PTPRK,SILENT,NM_001291981.1:p.Val538Val/c.1614T>C,gtT/gtC,LOW,,0.481829,0.5942,rs17828130,,,,,,chr6,128403745,128403745,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val538Val/c.1614T>C|1446|PTPRK|protein_coding|CODING|NM_001135648.2|10|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val538Val/c.1614T>C|1462|PTPRK|protein_coding|CODING|NM_001291981.1|10|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val538Val/c.1614T>C|876|PTPRK|protein_coding|CODING|NM_001291982.1|10|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val409Val/c.1227T>C|761|PTPRK|protein_coding|CODING|NM_001291983.1|9|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val538Val/c.1614T>C|1439|PTPRK|protein_coding|CODING|NM_001291984.1|10|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val538Val/c.1614T>C|1440|PTPRK|protein_coding|CODING|NM_002844.3|10|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5746,0.6455,0.6352,0.49,0.19,0.64,,,,,,,,,,,,,,,,
synonymous_variant,LAMA2,SILENT,NM_000426.3:p.Thr127Thr/c.381C>A,acC/acA,LOW,,0.936701,0.9673,rs4404787,,,,,,chr6,129381026,129381026,C,A,hom,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr127Thr/c.381C>A|3122|LAMA2|protein_coding|CODING|NM_000426.3|3|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr127Thr/c.381C>A|3118|LAMA2|protein_coding|CODING|NM_001079823.1|3|1)",HSMM:H3K36me3,,RCV000078766.2,,0.8885,0.9841,0.9702,0.95,0.90,0.97,,,,,,,,,,,,,,,,
synonymous_variant,LAMA2,SILENT,NM_000426.3:p.Glu1822Glu/c.5466A>G,gaA/gaG,LOW,,0.544529,0.5516,rs3749877,,,,,,chr6,129722389,129722389,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1822Glu/c.5466A>G|3122|LAMA2|protein_coding|CODING|NM_000426.3|38|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1822Glu/c.5466A>G|3118|LAMA2|protein_coding|CODING|NM_001079823.1|38|1)",HSMM:H3K36me3,,RCV000078777.2,,0.5215,0.4683,0.4632,0.52,0.62,0.47,,,,,,,,,,,,,,,,
synonymous_variant,LAMA2,SILENT,NM_000426.3:p.Glu1834Glu/c.5502G>A,gaG/gaA,LOW,COSM4160174(1),0.543331,0.5466,rs3749878,,,,,,chr6,129722425,129722425,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1834Glu/c.5502G>A|3122|LAMA2|protein_coding|CODING|NM_000426.3|38|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1834Glu/c.5502G>A|3118|LAMA2|protein_coding|CODING|NM_001079823.1|38|1)",HSMM:H3K36me3,,RCV000078778.2,,0.5215,0.4683,0.4622,0.51,0.61,0.46,,,,,,,,,,,,,,,,
synonymous_variant,LAMA2,SILENT,NM_000426.3:p.Thr2079Thr/c.6237G>A,acG/acA,LOW,COSM3761479(1),0.182508,0.2202,rs2297738,,,,,,chr6,129762112,129762112,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr2079Thr/c.6237G>A|3122|LAMA2|protein_coding|CODING|NM_000426.3|43|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr2079Thr/c.6237G>A|3118|LAMA2|protein_coding|CODING|NM_001079823.1|43|1)","NHEK:CTCF,HSMM:H3K36me3,H1ESC:DNase1,NH-A:DNase1,HSMM:DNase1,NHEK:H3K4me2,K562:DNase1",,RCV000078786.2,,0.1748,0.2334,0.1551,0.14,0.13,0.15,,,,,,,,,,,,,,,,
missense_variant,LAMA2,MISSENSE,NM_000426.3:p.Ala2587Val/c.7760C>T,gCa/gTa,MODERATE,COSM1440401(1),0.583866,0.6369,rs2229848,,"0.965,0.936(D,D)",2.32(M),0.0560(D),,chr6,129807629,129807629,C,T,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala2587Val/c.7760C>T|3122|LAMA2|protein_coding|CODING|NM_000426.3|56|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala2583Val/c.7748C>T|3118|LAMA2|protein_coding|CODING|NM_001079823.1|55|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3",,,,0.5982,0.6239,0.7177,0.64,0.47,0.73,,0.000000(D),0.000(P),-1.2(T),0.5838(D),0.862,5.106118,5.6,5.6,0.591000,2.793000,4.499000,0.922000,0.976000,0.999000,19.9737
synonymous_variant,LAMA2,SILENT,NM_000426.3:p.Val2610Val/c.7830G>C,gtG/gtC,LOW,,0.584265,0.6369,rs2229849,,,,,,chr6,129807699,129807699,G,C,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val2610Val/c.7830G>C|3122|LAMA2|protein_coding|CODING|NM_000426.3|56|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val2606Val/c.7818G>C|3118|LAMA2|protein_coding|CODING|NM_001079823.1|55|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3",,RCV000078800.2,,0.5982,0.6239,0.7177,0.64,0.47,0.73,,,,,,,,,,,,,,,,
synonymous_variant,LAMA2,SILENT,NM_000426.3:p.Pro2615Pro/c.7845G>A,ccG/ccA,LOW,,0.403754,0.3631,rs2229850,,,,,,chr6,129807714,129807714,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2615Pro/c.7845G>A|3122|LAMA2|protein_coding|CODING|NM_000426.3|56|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2611Pro/c.7833G>A|3118|LAMA2|protein_coding|CODING|NM_001079823.1|55|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3",,RCV000078801.2,,0.3763,0.3646,0.2565,0.34,0.52,0.25,,,,,,,,,,,,,,,,
synonymous_variant,LAMA2,SILENT,NM_000426.3:p.Asn2676Asn/c.8028T>C,aaT/aaC,LOW,,0.0185703,0.001,rs35313209,,,,,,chr6,129813175,129813175,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2676Asn/c.8028T>C|3122|LAMA2|protein_coding|CODING|NM_000426.3|57|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2672Asn/c.8016T>C|3118|LAMA2|protein_coding|CODING|NM_001079823.1|56|1)","NHEK:H3K27ac,NHEK:H3K4me1,HSMM:H3K36me3,HMEC:H3K27ac,NH-A:H3K27ac,HUVEC:H3K4me1,HUVEC:H3K27ac",,RCV000117450.2,,0.002,0.013,0.008,0.02,0.05,0.01,,,,,,,,,,,,,,,,
missense_variant,ARHGAP18,MISSENSE,NM_033515.2:p.Thr23Ala/c.67A>G,Acc/Gcc,MODERATE,,0.8127,0.7123,rs3752536,,"0.0,0.0(B,B)",-0.345(N),-1.0432(T),,chr6,130031215,130031215,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr23Ala/c.67A>G|663|ARHGAP18|protein_coding|CODING|NM_033515.2|1|1),"CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.8712,0.8199,0.835,0.84,0.83,0.85,,0.001464(N),0.000(P),,0.0241(T),0.023,0.950939,5.88,5.88,-0.197000,1.509000,1.935000,0.948000,1.000000,1.000000,11.269
synonymous_variant,TMEM244,SILENT,NM_001010876.1:p.Ser124Ser/c.372A>G,tcA/tcG,LOW,,0.459465,0.1399,rs7758540,,,,,,chr6,130152479,130152479,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser124Ser/c.372A>G|128|TMEM244|protein_coding|CODING|NM_001010876.1|5|1),HUVEC:H3K27me3,,,,0.4714,0.3934,0.6193,0.64,0.61,0.65,,,,,,,,,,,,,,,,
missense_variant,TMEM244,MISSENSE,NM_001010876.1:p.Phe111Val/c.331T>G,Ttc/Gtc,MODERATE,,0.242612,0.1359,rs7776426,0.06(T),0.55(P),1.735(L),-1.0791(T),,chr6,130152520,130152520,A,C,het,missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe111Val/c.331T>G|128|TMEM244|protein_coding|CODING|NM_001010876.1|5|1),HUVEC:H3K27me3,,,,0.2106,0.245,0.4583,0.40,0.25,0.48,,0.000012(U),0.413(P),"1.35,1.35(T,T)",0.0588(T),0.39,3.235466,4.5,3.31,0.455000,0.664000,2.021000,0.865000,0.935000,1.000000,9.7114
missense_variant,TMEM244,MISSENSE,NM_001010876.1:p.Phe80Leu/c.238T>C,Ttt/Ctt,MODERATE,COSM4160177(1),0.614217,0.3611,rs4629709,1(T),0.0(B),-1.32(N),-0.9519(T),,chr6,130154686,130154686,A,G,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe80Leu/c.238T>C|128|TMEM244|protein_coding|CODING|NM_001010876.1|4|1),HUVEC:H3K27me3,,,,0.7106,0.5101,0.7744,0.78,0.69,0.82,,0.000203(N),1.000(P),"1.39,1.39(T,T)",0.0076(T),0.07,0.246588,4.8,4.8,-0.128000,1.147000,0.230000,0.974000,0.927000,0.885000,7.7395
missense_variant,L3MBTL3,MISSENSE,NM_032438.2:p.Thr183Asn/c.548C>A,aCc/aAc,MODERATE,,0.503994,0.7599,rs9388768,0.3(T),"0.001,0.0(B,B)",0(N),-1.0799(T),,chr6,130374102,130374102,C,A,hom,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr158Asn/c.473C>A|755|L3MBTL3|protein_coding|CODING|NM_001007102.2|6|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr183Asn/c.548C>A|780|L3MBTL3|protein_coding|CODING|NM_032438.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.544,0.6124,0.6461,0.52,0.21,0.68,,0.040947(N),1.000(P),"2.57,2.58,2.57,0.98,2.58,2.58,2.57(T,T,T,T,T,T,T)",0.0280(T),0.072,1.007105,5.03,5.03,0.563000,2.498000,1.151000,0.370000,0.948000,0.754000,13.1795
synonymous_variant,L3MBTL3,SILENT,NM_032438.2:p.Pro275Pro/c.825T>C,ccT/ccC,LOW,,0.643171,0.8522,rs7451021,,,,,,chr6,130381246,130381246,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro250Pro/c.750T>C|755|L3MBTL3|protein_coding|CODING|NM_001007102.2|9|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro275Pro/c.825T>C|780|L3MBTL3|protein_coding|CODING|NM_032438.2|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.589,0.6945,0.6799,0.64,0.51,0.70,,,,,,,,,,,,,,,,
missense_variant,EPB41L2,MISSENSE,NM_001431.3:p.Glu998Gln/c.2992G>C,Gag/Cag,MODERATE,,0.0121805,0,rs61731767,0.12(T),"0.989,0.93,0.475,0.914,0.993,0.992(D,D,P,D,D,D)",2.38(M),0.3493(D),,chr6,131179302,131179302,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu666Gln/c.1996G>C|673|EPB41L2|protein_coding|CODING|NM_001135554.1|14|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu666Gln/c.1996G>C|673|EPB41L2|protein_coding|CODING|NM_001135555.3|14|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu845Gln/c.2533G>C|852|EPB41L2|protein_coding|CODING|NM_001199388.2|17|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu740Gln/c.2218G>C|747|EPB41L2|protein_coding|CODING|NM_001252660.1|16|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu998Gln/c.2992G>C|1005|EPB41L2|protein_coding|CODING|NM_001431.3|19|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0061,0.0159,0.0427,0.03,0.01,0.05,,0.000039(D),1.000(D),"-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55,-1.55(D,D,D,D,D,D,D,D,D,D,D,D,D,D)",0.6484(D),0.278,5.016111,6.16,5.29,0.650000,1.612000,5.757000,0.687000,0.032000,1.000000,15.4433
missense_variant,CTGF,MISSENSE,NM_001901.2:p.His83Asp/c.247C>G,Cac/Gac,MODERATE,COSM3749946(4),0.9998,1,rs7451102,1(T),0.0(B),-2.475(N),-1.0065(T),,chr6,132271952,132271952,G,C,hom,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His83Asp/c.247C>G|349|CTGF|protein_coding|CODING|NM_001901.2|2|1),"H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:CTCF,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,H1ESC:TAF7,HepG2:H3K27me3,HepG2:Yy1,HepG2:Rad21,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,H1ESC:CTCF",,,,1,1,0.999,,,,,0.000000(N),0.982(P),0.04(T),0.0173(T),0.264,0.758919,5.28,5.28,-0.293000,1.236000,4.000000,0.645000,0.923000,1.000000,15.7931
synonymous_variant,CTGF,SILENT,NM_001901.2:p.Leu80Leu/c.240A>C,ctA/ctC,LOW,COSM3749947(1),1,1,rs12206231,,,,,,chr6,132271959,132271959,T,G,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu80Leu/c.240A>C|349|CTGF|protein_coding|CODING|NM_001901.2|2|1),"H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:CTCF,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,H1ESC:TAF7,HepG2:H3K27me3,HepG2:Yy1,HepG2:Rad21,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,H1ESC:CTCF",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,CTGF,SILENT,NM_001901.2:p.Pro73Pro/c.219A>C,ccA/ccC,LOW,,1,1,rs6934749,,,,,,chr6,132271980,132271980,T,G,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro73Pro/c.219A>C|349|CTGF|protein_coding|CODING|NM_001901.2|2|1),"H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:CTCF,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,H1ESC:TAF7,HepG2:H3K27me3,HepG2:Yy1,HepG2:Rad21,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,MOXD1,MISSENSE,NM_015529.3:p.Glu488Gln/c.1462G>C,Gaa/Caa,MODERATE,,0.0115815,0,rs36075540,0.56(T),"0.02,0.033(B,B)",-0.205(N),-1.0395(T),,chr6,132636820,132636820,C,G,het,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu488Gln/c.1462G>C|613|MOXD1|protein_coding|CODING|NM_015529.3|10|1),"HUVEC:H3K27me3,GM06990:H3K36me3",,,,0.002,0.013,0.0437,0.03,0.01,0.05,,0.000496(D),1.000(D),"-0.04,-0.04(T,T)",0.0553(T),0.089,2.009021,5.56,5.56,0.563000,2.608000,4.488000,0.988000,1.000000,1.000000,15.0664
synonymous_variant,MOXD1,SILENT,NM_015529.3:p.Leu13Leu/c.39C>T,ctC/ctT,LOW,COSM3749948(7),0.0970447,0.002,rs77906164,,,,,,chr6,132722527,132722527,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu13Leu/c.39C>T|613|MOXD1|protein_coding|CODING|NM_015529.3|1|1),"HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1595,0.1037,0.2097,0.14,0.06,0.19,,,,,,,,,,,,,,,,
stop_lost,TAAR9,MISSENSE,NM_175057.3:p.Ter61Lysext*?/c.181T>A,Taa/Aaa,HIGH,,0.805711,0.8849,rs2842899,,,,,,chr6,132859609,132859609,T,A,het,stop_lost(HIGH|MISSENSE|Taa/Aaa|p.Ter61Lysext*?/c.181T>A|348|TAAR9|protein_coding|CODING|NM_175057.3|1|1),"HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8047,0.7032,0.7435,0.76,0.82,0.73,,,,,,,,,,,,,,,,
missense_variant,VNN2,MISSENSE,NM_004665.4:p.Leu404Met/c.1210C>A,Ctg/Atg,MODERATE,,1,1,rs4895944,0.11(T),"0.003,0.079(B,B)",1.97(M),-0.7327(T),,chr6,133070995,133070995,G,T,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu183Met/c.547C>A|299|VNN2|protein_coding|CODING|NM_001242350.2|4|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu404Met/c.1210C>A|520|VNN2|protein_coding|CODING|NM_004665.4|6|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu351Met/c.1051C>A|467|VNN2|protein_coding|CODING|NM_078488.2|7|1),non_coding_exon_variant(MODIFIER|||n.1046C>A||VNN2||CODING|NR_034173.2|5|1),non_coding_exon_variant(MODIFIER|||n.806C>A||VNN2||CODING|NR_034174.2|5|1),non_coding_exon_variant(MODIFIER|||n.1331C>A||VNN2||CODING|NR_110143.1|6|1),non_coding_exon_variant(MODIFIER|||n.1123C>A||VNN2||CODING|NR_110144.1|6|1),non_coding_exon_variant(MODIFIER|||n.1120C>A||VNN2||CODING|NR_110145.1|6|1),non_coding_exon_variant(MODIFIER|||n.479C>A||VNN2||CODING|NR_110146.1|3|1)","HepG2:H3K27me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.022849(N),1.000(P),"-3.91,-3.91,-3.91(D,D,D)",0.5631(D),0.212,3.192999,5.2,-10.4,-0.986000,-1.426000,-0.300000,0.004000,0.003000,0.000000,6.7951
synonymous_variant,HBS1L,SILENT,NM_001145207.1:p.Gln594Gln/c.1782A>G,caA/caG,LOW,,0.00239617,0,rs192526974,,,,,,chr6,135357813,135357813,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln594Gln/c.1782A>G|632|HBS1L|protein_coding|CODING|NM_001145207.1|5|1),intron_variant(MODIFIER|||c.304+2898A>G|642|HBS1L|protein_coding|CODING|NM_001145158.1|3|1),intron_variant(MODIFIER|||c.430+2898A>G|684|HBS1L|protein_coding|CODING|NM_006620.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0,0.0089,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,BCLAF1,MISSENSE,NM_014739.2:p.Thr888Asn/c.2663C>A,aCt/aAt,MODERATE,,,,rs62431284,,,0.46(N),-0.8177(T),,chr6,136582497,136582497,G,T,het,"missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr837Asn/c.2510C>A|869|BCLAF1|protein_coding|CODING|NM_001077440.1|11|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr715Asn/c.2144C>A|747|BCLAF1|protein_coding|CODING|NM_001077441.1|12|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr886Asn/c.2657C>A|918|BCLAF1|protein_coding|CODING|NM_001301038.1|12|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr888Asn/c.2663C>A|920|BCLAF1|protein_coding|CODING|NM_014739.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.1466(T),.,3.987729,5.5,5.5,0.655000,2.581000,8.020000,0.999000,1.000000,1.000000,19.3961
synonymous_variant,BCLAF1,SILENT,NM_014739.2:p.Pro727Pro/c.2181A>G,ccA/ccG,LOW,COSM4160210(1),,,rs62431285,,,,-0.8984(T),,chr6,136590613,136590613,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro725Pro/c.2175A>G|869|BCLAF1|protein_coding|CODING|NM_001077440.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro554Pro/c.1662A>G|747|BCLAF1|protein_coding|CODING|NM_001077441.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro725Pro/c.2175A>G|918|BCLAF1|protein_coding|CODING|NM_001301038.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro727Pro/c.2181A>G|920|BCLAF1|protein_coding|CODING|NM_014739.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.1578(T),.,0.281568,4.82,3.63,0.482000,0.776000,1.871000,0.992000,1.000000,1.000000,11.8013
missense_variant,BCLAF1,MISSENSE,NM_014739.2:p.Ser718Arg/c.2154T>G,agT/agG,MODERATE,,,,rs62431286,0.08(T),"0.986,0.986,0.986,0.986(D,D,D,D)",0.55(N),-1.0529(T),,chr6,136590640,136590640,A,C,het,"missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser716Arg/c.2148T>G|869|BCLAF1|protein_coding|CODING|NM_001077440.1|9|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser545Arg/c.1635T>G|747|BCLAF1|protein_coding|CODING|NM_001077441.1|9|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser716Arg/c.2148T>G|918|BCLAF1|protein_coding|CODING|NM_001301038.1|9|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser718Arg/c.2154T>G|920|BCLAF1|protein_coding|CODING|NM_014739.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.006259(N),1.000(D),"2.4,2.4,2.4,2.4,2.4,2.4,2.4(T,T,T,T,T,T,T)",0.0657(T),0.877,2.121849,5.1,5.1,0.533000,2.056000,4.843000,0.778000,1.000000,1.000000,9.6792
missense_variant,BCLAF1,MISSENSE,NM_014739.2:p.Arg699His/c.2096G>A,cGc/cAc,MODERATE,COSM1579171(3),,,rs62431287,0.07(T),"0.829,0.317,0.829,0.713(P,B,P,P)",1.405(L),-1.0739(T),,chr6,136590698,136590698,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg697His/c.2090G>A|869|BCLAF1|protein_coding|CODING|NM_001077440.1|9|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg526His/c.1577G>A|747|BCLAF1|protein_coding|CODING|NM_001077441.1|9|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg697His/c.2090G>A|918|BCLAF1|protein_coding|CODING|NM_001301038.1|9|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg699His/c.2096G>A|920|BCLAF1|protein_coding|CODING|NM_014739.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.003002(N),0.000(P),"1.52,1.52,1.52,1.52,1.52,1.52,1.52(T,T,T,T,T,T,T)",0.0745(T),0.8,2.042067,5.01,5.01,0.591000,2.496000,4.959000,0.996000,1.000000,1.000000,12.0894
synonymous_variant,BCLAF1,SILENT,NM_014739.2:p.Arg694Arg/c.2082G>A,cgG/cgA,LOW,COSM4006130(2),,,rs62431288,,,,,,chr6,136590712,136590712,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg692Arg/c.2076G>A|869|BCLAF1|protein_coding|CODING|NM_001077440.1|9|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg521Arg/c.1563G>A|747|BCLAF1|protein_coding|CODING|NM_001077441.1|9|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg692Arg/c.2076G>A|918|BCLAF1|protein_coding|CODING|NM_001301038.1|9|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg694Arg/c.2082G>A|920|BCLAF1|protein_coding|CODING|NM_014739.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,BCLAF1,SILENT,NM_014739.2:p.Val467Val/c.1401A>G,gtA/gtG,LOW,COSM4160213(1),,,rs1967444,,,,,,chr6,136597262,136597262,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val465Val/c.1395A>G|869|BCLAF1|protein_coding|CODING|NM_001077440.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val465Val/c.1395A>G|918|BCLAF1|protein_coding|CODING|NM_001301038.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val467Val/c.1401A>G|920|BCLAF1|protein_coding|CODING|NM_014739.2|5|1),intron_variant(MODIFIER|||c.1017-135A>G|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,BCLAF1,MISSENSE,NM_014739.2:p.Leu461His/c.1382T>A,cTt/cAt,MODERATE,COSM4160214(1),,,rs1967445,0.54(T),"0.394,0.723,0.394(B,P,B)",1.15(L),-1.0003(T),,chr6,136597281,136597281,A,T,het,"missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu459His/c.1376T>A|869|BCLAF1|protein_coding|CODING|NM_001077440.1|5|1),missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu459His/c.1376T>A|918|BCLAF1|protein_coding|CODING|NM_001301038.1|5|1),missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu461His/c.1382T>A|920|BCLAF1|protein_coding|CODING|NM_014739.2|5|1),intron_variant(MODIFIER|||c.1017-154T>A|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.039207(N),1.000(D),"2.48,2.48,2.48,2.48,2.48,2.48(T,T,T,T,T,T)",0.0184(T),0.597,1.207187,5.21,4.06,0.524000,0.958000,1.632000,0.998000,1.000000,1.000000,8.5394
missense_variant,BCLAF1,MISSENSE,NM_014739.2:p.Tyr459Asp/c.1375T>G,Tat/Gat,MODERATE,COSM4160215(1),,,rs1967446,0.62(T),"0.261,0.439,0.261(B,B,B)",0.69(N),-0.9518(T),,chr6,136597288,136597288,A,C,het,"missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr457Asp/c.1369T>G|869|BCLAF1|protein_coding|CODING|NM_001077440.1|5|1),missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr457Asp/c.1369T>G|918|BCLAF1|protein_coding|CODING|NM_001301038.1|5|1),missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr459Asp/c.1375T>G|920|BCLAF1|protein_coding|CODING|NM_014739.2|5|1),intron_variant(MODIFIER|||c.1017-161T>G|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000029(D),1.000(D),"2.62,2.62,2.62,2.62,2.62,2.62(T,T,T,T,T,T)",0.0131(T),0.837,1.736471,5.21,5.21,0.524000,2.111000,4.111000,0.996000,1.000000,1.000000,14.0194
stop_gained,BCLAF1,NONSENSE,NM_014739.2:p.Ser361*/c.1082C>A,tCa/tAa,HIGH,,,,,0.43(T),,,,BCLAF1:0.75(4);BCLAF1:0.75(4);,chr6,136597581,136597581,G,T,het,"stop_gained(HIGH|NONSENSE|tCa/tAa|p.Ser359*/c.1076C>A|869|BCLAF1|protein_coding|CODING|NM_001077440.1|5|1),stop_gained(HIGH|NONSENSE|tCa/tAa|p.Ser359*/c.1076C>A|918|BCLAF1|protein_coding|CODING|NM_001301038.1|5|1),stop_gained(HIGH|NONSENSE|tCa/tAa|p.Ser361*/c.1082C>A|920|BCLAF1|protein_coding|CODING|NM_014739.2|5|1),intron_variant(MODIFIER|||c.1017-454C>A|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.016524(N),1.000(D),,,.,6.083364,5.38,4.39,0.650000,2.695000,2.945000,0.995000,1.000000,1.000000,7.8176
missense_variant,BCLAF1,MISSENSE,NM_014739.2:p.Ser209Cys/c.626C>G,tCc/tGc,MODERATE,,0.498203,0.5,rs6940018,0.07(T),"0.823,0.896,0.823,0.823(P,P,P,P)",1.15(L),-1.1821(T),,chr6,136599393,136599393,G,C,het,"missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser207Cys/c.620C>G|869|BCLAF1|protein_coding|CODING|NM_001077440.1|4|1),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser207Cys/c.620C>G|918|BCLAF1|protein_coding|CODING|NM_001301038.1|4|1),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser209Cys/c.626C>G|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser209Cys/c.626C>G|920|BCLAF1|protein_coding|CODING|NM_014739.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4939,0.5,0.499,,,,,0.000002(D),1.000(D),"2.83,2.82,2.82,2.4,2.83,2.82,2.63(T,T,T,T,T,T,T)",0.0500(T),0.732,3.216670,5.97,5.97,0.650000,2.834000,3.271000,0.947000,1.000000,1.000000,15.1754
synonymous_variant,BCLAF1,SILENT,NM_014739.2:p.Ser205Ser/c.615A>G,tcA/tcG,LOW,,,,rs6919254,,,,,,chr6,136599404,136599404,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser203Ser/c.609A>G|869|BCLAF1|protein_coding|CODING|NM_001077440.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser203Ser/c.609A>G|918|BCLAF1|protein_coding|CODING|NM_001301038.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser205Ser/c.615A>G|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser205Ser/c.615A>G|920|BCLAF1|protein_coding|CODING|NM_014739.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,BCLAF1,MISSENSE,NM_014739.2:p.Gly66Ala/c.197G>C,gGa/gCa,MODERATE,COSM4160216(1),0,0,rs9942517,0.09(T),"0.992,0.992,0.992,0.992(D,D,D,D)",1.79(L),-0.3340(T),,chr6,136599822,136599822,C,G,het,"missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly64Ala/c.191G>C|869|BCLAF1|protein_coding|CODING|NM_001077440.1|4|1),missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly64Ala/c.191G>C|918|BCLAF1|protein_coding|CODING|NM_001301038.1|4|1),missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly66Ala/c.197G>C|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1),missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly66Ala/c.197G>C|920|BCLAF1|protein_coding|CODING|NM_014739.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0,0,0,,,,,0.000014(D),0.000(P),"0.12,-0.16,-0.11,-0.23,0.05,-0.16,-0.22(T,T,T,T,T,T,T)",0.4000(T),0.91,3.165888,5.64,5.64,0.557000,2.660000,5.655000,0.996000,1.000000,1.000000,19.6986
synonymous_variant,BCLAF1,SILENT,NM_014739.2:p.Tyr61Tyr/c.183C>T,taC/taT,LOW,COSM3744935(2),,,rs9942518,,,,,,chr6,136599836,136599836,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr59Tyr/c.177C>T|869|BCLAF1|protein_coding|CODING|NM_001077440.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr59Tyr/c.177C>T|918|BCLAF1|protein_coding|CODING|NM_001301038.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr61Tyr/c.183C>T|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr61Tyr/c.183C>T|920|BCLAF1|protein_coding|CODING|NM_014739.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,BCLAF1,SILENT,NM_014739.2:p.Arg59Arg/c.177C>T,cgC/cgT,LOW,COSM3744936(3),,,rs9942519,,,,,,chr6,136599842,136599842,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg57Arg/c.171C>T|869|BCLAF1|protein_coding|CODING|NM_001077440.1|4|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg57Arg/c.171C>T|918|BCLAF1|protein_coding|CODING|NM_001301038.1|4|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg59Arg/c.177C>T|747|BCLAF1|protein_coding|CODING|NM_001077441.1|4|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg59Arg/c.177C>T|920|BCLAF1|protein_coding|CODING|NM_014739.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MAP7,MISSENSE,NM_001198609.1:p.Arg588Trp/c.1762C>T,Cgg/Tgg,MODERATE,COSM3749949(3),0.771565,0.6736,rs2076190,0.07(T),"0.751,0.636,0.751,0.809,0.809,0.88(P,P,P,P,P,P)",2.595(M),-0.9645(T),,chr6,136682172,136682172,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg580Trp/c.1738C>T|771|MAP7|protein_coding|CODING|NM_001198608.1|12|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg588Trp/c.1762C>T|779|MAP7|protein_coding|CODING|NM_001198609.1|12|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg543Trp/c.1627C>T|734|MAP7|protein_coding|CODING|NM_001198611.1|11|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg580Trp/c.1738C>T|771|MAP7|protein_coding|CODING|NM_001198614.1|13|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg543Trp/c.1627C>T|734|MAP7|protein_coding|CODING|NM_001198615.1|12|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg521Trp/c.1561C>T|712|MAP7|protein_coding|CODING|NM_001198616.1|11|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg464Trp/c.1390C>T|655|MAP7|protein_coding|CODING|NM_001198617.1|10|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg412Trp/c.1234C>T|603|MAP7|protein_coding|CODING|NM_001198618.1|12|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg412Trp/c.1234C>T|603|MAP7|protein_coding|CODING|NM_001198619.1|12|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg558Trp/c.1672C>T|749|MAP7|protein_coding|CODING|NM_003980.4|12|1)","H1ESC:H3K36me3,K562:Znf263,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.8497,0.8026,0.8459,0.81,0.74,0.85,,0.059376(N),0.016(P),"1.76,1.76,1.76,1.76,1.76(T,T,T,T,T)",0.0923(T),0.406,2.539239,4.89,2.78,0.555000,0.988000,1.543000,0.620000,0.960000,0.441000,10.9226
missense_variant,MAP3K5,MISSENSE,NM_005923.3:p.Phe16Leu/c.48C>G,ttC/ttG,MODERATE,COSM3761494(1),0.0273562,0.001,rs114489274,0.91(T),0.0(B),0(N),-1.0254(T),,chr6,137113248,137113248,G,C,het,missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe16Leu/c.48C>G|1374|MAP3K5|protein_coding|CODING|NM_005923.3|1|1),"K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,HeLa-S3:Ap2gamma,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0041,0.0331,0.0368,0.03,0.04,0.03,,0.161216(N),1.000(N),-0.28(T),0.0263(T),0.043,-2.247563,3.56,-1.67,-0.311000,-0.505000,0.655000,0.004000,0.000000,0.480000,0.5664
missense_variant,IL20RA,MISSENSE,NM_014432.3:p.Leu382Phe/c.1144C>T,Ctc/Ttc,MODERATE,COSM3761495(1),0.199681,0.0714,rs1342642,0.11(T),"0.592,0.38(P,B)",1.78(L),-1.0327(T),,chr6,137323213,137323213,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu333Phe/c.997C>T|504|IL20RA|protein_coding|CODING|NM_001278722.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu271Phe/c.811C>T|442|IL20RA|protein_coding|CODING|NM_001278723.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu249Phe/c.745C>T|420|IL20RA|protein_coding|CODING|NM_001278724.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu382Phe/c.1144C>T|553|IL20RA|protein_coding|CODING|NM_014432.3|7|1)","GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2301,0.183,0.2594,0.25,0.22,0.27,,0.002515(N),1.000(P),"0.3,1.76,0.04(T,T,T)",0.1484(T),0.073,2.740564,5.76,0.246,0.655000,0.013000,0.732000,0.007000,0.000000,0.001000,6.7229
missense_variant,IL20RA,MISSENSE,NM_014432.3:p.Val259Ile/c.775G>A,Gta/Ata,MODERATE,,0.846645,0.999,rs1555498,0.8(T),"0.001,0.001(B,B)",-0.46(N),-1.0509(T),,chr6,137325847,137325847,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val210Ile/c.628G>A|504|IL20RA|protein_coding|CODING|NM_001278722.1|6|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val148Ile/c.442G>A|442|IL20RA|protein_coding|CODING|NM_001278723.1|5|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val126Ile/c.376G>A|420|IL20RA|protein_coding|CODING|NM_001278724.1|5|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val259Ile/c.775G>A|553|IL20RA|protein_coding|CODING|NM_014432.3|6|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.999,0.9438,0.9891,0.84,0.53,0.99,,0.000016(N),1.000(P),"0.46,1.91,0.16(T,T,T)",0.0253(T),0.058,-1.880021,5.29,-0.049,-0.290000,0.031000,-0.397000,0.029000,0.342000,0.002000,7.4201
synonymous_variant,KIAA1244,SILENT,NM_020340.4:p.Thr1129Thr/c.3387G>A,acG/acA,LOW,,0.129792,0.1577,rs203145,,,,,,chr6,138615148,138615148,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1129Thr/c.3387G>A|2177|KIAA1244|protein_coding|CODING|NM_020340.4|20|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.1626,0.1427,0.1362,0.10,0.07,0.11,,,,,,,,,,,,,,,,
synonymous_variant,NHSL1,SILENT,NM_020464.1:p.Pro1584Pro/c.4752C>T,ccC/ccT,LOW,COSM3761499(2),0.126198,0.0139,rs9495082,,,,,,chr6,138745299,138745299,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1580Pro/c.4740C>T|1606|NHSL1|protein_coding|CODING|NM_001144060.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1584Pro/c.4752C>T|1610|NHSL1|protein_coding|CODING|NM_020464.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0481,0.0865,0.0845,0.12,0.23,0.07,,,,,,,,,,,,,,,,
synonymous_variant,NHSL1,SILENT,NM_020464.1:p.Lys719Lys/c.2157G>A,aaG/aaA,LOW,COSM4160243(1),0.736821,0.9008,rs2039121,,,,,,chr6,138753337,138753337,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys715Lys/c.2145G>A|1606|NHSL1|protein_coding|CODING|NM_001144060.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys719Lys/c.2157G>A|1610|NHSL1|protein_coding|CODING|NM_020464.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7965,0.7219,0.7396,0.70,0.61,0.74,,,,,,,,,,,,,,,,
synonymous_variant,NHSL1,SILENT,NM_020464.1:p.Leu391Leu/c.1171T>C,Ttg/Ctg,LOW,,0.873602,0.9286,rs2327891,,,,,,chr6,138754323,138754323,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu387Leu/c.1159T>C|1606|NHSL1|protein_coding|CODING|NM_001144060.1|6|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu391Leu/c.1171T>C|1610|NHSL1|protein_coding|CODING|NM_020464.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8313,0.8156,0.7932,0.83,0.93,0.79,,,,,,,,,,,,,,,,
synonymous_variant,LOC100507462,SILENT,NM_001242740.1:p.Pro34Pro/c.102G>A,ccG/ccA,LOW,,0.933307,0.997,rs4243458,,,,,,chr6,139085450,139085450,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro34Pro/c.102G>A|108|LOC100507462|protein_coding|CODING|NM_001242740.1|2|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.909,0.902,0.834,,,,,,,,,,,,,,,,,,,
missense_variant,REPS1,MISSENSE,NM_001286611.1:p.Val717Ile/c.2149G>A,Gtt/Att,MODERATE,,0.102436,0.0347,rs1044418,0.25(T),"0.002,0.001,0.725,0.001,0.024(B,B,P,B,B)",0.69(N),-1.1460(T),,chr6,139229872,139229872,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val690Ile/c.2068G>A|769|REPS1|protein_coding|CODING|NM_001128617.2|17|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val717Ile/c.2149G>A|796|REPS1|protein_coding|CODING|NM_001286611.1|18|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val626Ile/c.1876G>A|705|REPS1|protein_coding|CODING|NM_001286612.1|15|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val716Ile/c.2146G>A|795|REPS1|protein_coding|CODING|NM_031922.4|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.0937,0.1382,0.17,0.18,0.16,,0.006003(N),0.005(P),"1.52,1.5,1.5,1.49,1.52,1.47(T,T,T,T,T,T)",0.0598(T),0.094,4.099557,5.35,5.35,0.585000,2.784000,4.270000,0.941000,0.862000,0.998000,19.2467
synonymous_variant,HECA,SILENT,NM_016217.2:p.Ala76Ala/c.228T>C,gcT/gcC,LOW,COSM4160244(3),0.635184,0.2183,rs185694700,,,,,,chr6,139456761,139456761,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala76Ala/c.228T>C|543|HECA|protein_coding|CODING|NM_016217.2|1|1),"NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:CTCF,HeLa-S3:PolII,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6074,0.7305,0.6988,,,,,,,,,,,,,,,,,,,
synonymous_variant,HECA,SILENT,NM_016217.2:p.Asn229Asn/c.687T>C,aaT/aaC,LOW,COSM4160246(1),0.628395,0.2183,rs3173082,,,,,,chr6,139487836,139487836,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn229Asn/c.687T>C|543|HECA|protein_coding|CODING|NM_016217.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.593,0.7248,0.6948,0.73,0.85,0.67,,,,,,,,,,,,,,,,
missense_variant,TXLNB,MISSENSE,NM_153235.3:p.Ala602Pro/c.1804G>C,Gcg/Ccg,MODERATE,COSM3761501(1),0.483826,0.2351,rs9495391,,0.001(B),0(N),-0.9629(T),,chr6,139563914,139563914,C,G,het,missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala602Pro/c.1804G>C|684|TXLNB|protein_coding|CODING|NM_153235.3|10|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3814,0.3588,0.3638,0.52,0.81,0.37,,0.220216(N),1.000(P),2.5(T),0.0070(T),0.033,1.391441,3.49,2.59,-0.120000,0.291000,-0.219000,0.001000,0.004000,0.000000,9.6776
synonymous_variant,CITED2,SILENT,NM_001168389.2:p.Ala12Ala/c.36C>A,gcC/gcA,LOW,COSM3761502(3),0.1248,0.0317,rs1131400,,,,,,chr6,139695061,139695061,G,T,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala7Ala/c.21C>A|270|CITED2|protein_coding|CODING|NM_001168388.2|2|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala12Ala/c.36C>A|275|CITED2|protein_coding|CODING|NM_001168389.2|2|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala7Ala/c.21C>A|270|CITED2|protein_coding|CODING|NM_006079.4|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.1472,0.1571,0.1918,0.18,0.15,0.19,,,,,,,,,,,,,,,,
synonymous_variant,GPR126,SILENT,NM_198569.2:p.Asp373Asp/c.1119C>T,gaC/gaT,LOW,COSM3761504(1),0.0992412,0.2619,rs2143390,,,,,,chr6,142703137,142703137,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp373Asp/c.1119C>T|1193|GPR126|protein_coding|CODING|NM_001032394.2|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp373Asp/c.1119C>T|1222|GPR126|protein_coding|CODING|NM_001032395.2|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp373Asp/c.1119C>T|1221|GPR126|protein_coding|CODING|NM_020455.5|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp373Asp/c.1119C>T|1250|GPR126|protein_coding|CODING|NM_198569.2|5|1)","HUVEC:H3K36me3,HepG2:H3K36me3",,,,0.0685,0.1095,0.0815,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,GPR126,SILENT,NM_198569.2:p.Leu492Leu/c.1476G>A,ttG/ttA,LOW,,0.996605,1,rs989946,,,,,,chr6,142718801,142718801,G,A,hom,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu464Leu/c.1392G>A|1193|GPR126|protein_coding|CODING|NM_001032394.2|9|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu464Leu/c.1392G>A|1222|GPR126|protein_coding|CODING|NM_001032395.2|9|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu492Leu/c.1476G>A|1221|GPR126|protein_coding|CODING|NM_020455.5|10|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu492Leu/c.1476G>A|1250|GPR126|protein_coding|CODING|NM_198569.2|10|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9949,0.9957,0.992,0.99,1.00,0.99,,,0.000(P),,,.,-0.670187,5.65,0.284,-0.269000,-0.048000,0.184000,0.117000,0.650000,0.991000,11.397
missense_variant,GPR126,MISSENSE,NM_198569.2:p.Gln1127Arg/c.3380A>G,cAg/cGg,MODERATE,,0.999601,1,rs1262686,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.795(N),-0.9902(T),,chr6,142758631,142758631,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1099Arg/c.3296A>G|1193|GPR126|protein_coding|CODING|NM_001032394.2|22|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1099Arg/c.3296A>G|1222|GPR126|protein_coding|CODING|NM_001032395.2|22|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1127Arg/c.3380A>G|1221|GPR126|protein_coding|CODING|NM_020455.5|23|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1127Arg/c.3380A>G|1250|GPR126|protein_coding|CODING|NM_198569.2|23|1)","HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,0.998,1.00,1.00,1.00,,0.000064(N),1.000(P),"1.38,1.38,1.38,1.38(T,T,T,T)",0.0082(T),0.291,0.627939,5.29,5.29,-0.119000,1.495000,3.586000,0.963000,0.991000,0.948000,14.3017
synonymous_variant,HIVEP2,SILENT,NM_006734.3:p.Pro2295Pro/c.6885A>G,ccA/ccG,LOW,,0.769968,0.8313,rs169098,,,,,,chr6,143074700,143074700,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro2295Pro/c.6885A>G|2446|HIVEP2|protein_coding|CODING|NM_006734.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7802,0.7176,0.6074,0.70,0.83,0.64,,,,,,,,,,,,,,,,
synonymous_variant,HIVEP2,SILENT,NM_006734.3:p.Leu1691Leu/c.5073G>A,ctG/ctA,LOW,COSM3761506(1),0.0283546,0,rs34296594,,,,,,chr6,143090803,143090803,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1691Leu/c.5073G>A|2446|HIVEP2|protein_coding|CODING|NM_006734.3|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0511,0.0418,0.0606,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,HIVEP2,MISSENSE,NM_006734.3:p.Leu1538Pro/c.4613T>C,cTg/cCg,MODERATE,,0.978834,0.999,rs109836,0.87(T),0.0(B),-1.23(N),-0.9927(T),,chr6,143091263,143091263,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1538Pro/c.4613T>C|2446|HIVEP2|protein_coding|CODING|NM_006734.3|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.953,0.9697,0.9692,0.98,0.99,0.97,,0.003364(N),1.000(P),"4.2,4.2,4.2(T,T,T)",0.0007(T),0.048,-0.582006,6.17,3.46,-0.119000,0.190000,0.547000,0.117000,0.004000,0.066000,2.3391
missense_variant,HIVEP2,MISSENSE,NM_006734.3:p.Gly860Arg/c.2578G>A,Ggg/Agg,MODERATE,,,,rs371220575,0.51(T),0.0(B),-0.205(N),-0.9537(T),,chr6,143093298,143093298,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly860Arg/c.2578G>A|2446|HIVEP2|protein_coding|CODING|NM_006734.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.126198(N),1.000(N),"1.46,1.46,1.46(T,T,T)",0.0107(T),0.099,-0.847872,5.5,3.39,0.591000,1.337000,1.867000,0.173000,0.010000,0.029000,6.4061
synonymous_variant,FUCA2,SILENT,NM_032020.4:p.Leu463Leu/c.1389G>A,ctG/ctA,LOW,COSM150189(1),0.422524,0.4821,rs8161,,,,,,chr6,143816859,143816859,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu463Leu/c.1389G>A|467|FUCA2|protein_coding|CODING|NM_032020.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3589,0.438,0.339,0.39,0.47,0.34,,,,,,,,,,,,,,,,
missense_variant,FUCA2,MISSENSE,NM_032020.4:p.His371Tyr/c.1111C>T,Cat/Tat,MODERATE,COSM1620991(1),0.170128,0.1696,rs3762001,0.04(D),"0.002,0.0(B,B)",0.895(L),-1.0531(T),,chr6,143823112,143823112,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His371Tyr/c.1111C>T|467|FUCA2|protein_coding|CODING|NM_032020.4|5|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.1484,0.2247,0.20,0.15,0.22,,0.566960(N),1.000(P),"0.56,-0.45(T,T)",0.0797(T),0.034,1.055759,5.98,-1.41,0.650000,-0.144000,1.172000,0.726000,0.001000,0.556000,8.8493
missense_variant,FUCA2,MISSENSE,NM_032020.4:p.Met356Val/c.1066A>G,Atg/Gtg,MODERATE,,0.232428,0.1687,rs3762002,0.44(T),"0.05,0.034(B,B)",0.93(L),-1.0596(T),,chr6,143823157,143823157,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met356Val/c.1066A>G|467|FUCA2|protein_coding|CODING|NM_032020.4|5|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.1859,0.2247,0.26,0.32,0.23,,0.000000(D),0.000(P),"0.43,0.43(T,T)",0.0565(T),0.194,1.797932,5.98,5.98,0.528000,2.288000,4.814000,0.983000,1.000000,1.000000,12.26
missense_variant,FUCA2,MISSENSE,NM_032020.4:p.Ala233Glu/c.698C>A,gCa/gAa,MODERATE,COSM1440900(2),0.0890575,0.002,rs11155297,0.5(T),0.995(D),2.525(M),-0.7001(T),,chr6,143825104,143825104,G,T,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala233Glu/c.698C>A|467|FUCA2|protein_coding|CODING|NM_032020.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0644,0.1268,0.2724,0.19,0.05,0.27,,0.000000(D),0.000(P),0.47(T),0.2157(T),0.307,2.698181,5.62,3.81,0.650000,1.346000,7.638000,0.002000,0.012000,1.000000,11.8248
missense_variant,PHACTR2,MISSENSE,NM_001100164.1:p.Pro176Ser/c.526C>T,Ccc/Tcc,MODERATE,COSM3761508(2),0.20008,0.1409,rs2073214,0.63(T),"0.012,0.005(B,B)",1.265(L),-1.0209(T),,chr6,144081609,144081609,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro176Ser/c.526C>T|645|PHACTR2|protein_coding|CODING|NM_001100164.1|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro165Ser/c.493C>T|634|PHACTR2|protein_coding|CODING|NM_014721.2|5|1),intron_variant(MODIFIER|||c.455-4789C>T|565|PHACTR2|protein_coding|CODING|NM_001100165.1|4|1),intron_variant(MODIFIER|||c.422-4789C>T|554|PHACTR2|protein_coding|CODING|NM_001100166.1|4|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1339,0.2378,0.174,0.19,0.28,0.14,,0.015325(N),0.000(P),"1.91,1.91(T,T)",0.0180(T),0.052,1.445776,6.08,4.31,0.655000,0.912000,0.774000,0.990000,1.000000,1.000000,9.3236
synonymous_variant,UTRN,SILENT,NM_007124.2:p.Glu2637Glu/c.7911G>A,gaG/gaA,LOW,,0.642772,0.8681,rs4305737,,,,,,chr6,145051594,145051594,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2637Glu/c.7911G>A|3433|UTRN|protein_coding|CODING|NM_007124.2|53|1),HepG2:H3K36me3,,,,0.4867,0.6225,0.2286,0.43,0.79,0.25,,,,,,,,,,,,,,,,
missense_variant,FBXO30,MISSENSE,NM_032145.4:p.His583Gln/c.1749T>A,caT/caA,MODERATE,COSM3736404(3),,,rs3811102,0.11(T),0.007(B),0.895(L),-0.9791(T),,chr6,146125793,146125793,A,T,hom,"missense_variant(MODERATE|MISSENSE|caT/caA|p.His583Gln/c.1749T>A|745|FBXO30|protein_coding|CODING|NM_032145.4|2|1),intron_variant(MODIFIER|||n.53-23704A>T||LOC100507557||NON_CODING|NR_038246.1|1|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.35,0.22,0.41,,0.000002(N),0.002(P),2.29(T),0.0101(T),0.088,1.009522,5.73,0.452,0.533000,-0.138000,0.282000,0.957000,0.912000,0.953000,5.4721
missense_variant,FBXO30,MISSENSE,NM_032145.4:p.Val375Met/c.1123G>A,Gtg/Atg,MODERATE,COSM3736405(2),0.329273,0.2341,rs9373475,0.05(D),0.007(B),0(N),-0.9860(T),,chr6,146126419,146126419,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val375Met/c.1123G>A|745|FBXO30|protein_coding|CODING|NM_032145.4|2|1),intron_variant(MODIFIER|||n.53-23078C>T||LOC100507557||NON_CODING|NR_038246.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5133,0.232,0.4105,0.36,0.25,0.41,,0.000086(N),1.000(P),2.19(T),0.0068(T),0.031,0.029502,5.46,-3.18,-1.033000,-0.720000,-0.321000,0.512000,0.186000,0.104000,2.7703
synonymous_variant,SHPRH,SILENT,NM_001042683.2:p.Cys1432Cys/c.4296C>T,tgC/tgT,LOW,,0.836262,0.8095,rs9497426,,,,,,chr6,146234644,146234644,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1432Cys/c.4296C>T|1683|SHPRH|protein_coding|CODING|NM_001042683.2|24|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1436Cys/c.4308C>T|1659|SHPRH|protein_coding|CODING|NM_173082.3|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7638,0.8646,0.7485,0.81,0.93,0.76,,,,,,,,,,,,,,,,
synonymous_variant,GRM1,SILENT,NM_001278064.1:p.Lys931Lys/c.2793G>A,aaG/aaA,LOW,COSM4160266(1),0.534545,0.5466,rs2942,,,,,,chr6,146755140,146755140,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys931Lys/c.2793G>A|1194|GRM1|protein_coding|CODING|NM_001278064.1|8|1),3_prime_UTR_variant(MODIFIER||7385|c.*157G>A|906|GRM1|protein_coding|CODING|NM_001278065.1|10|1),3_prime_UTR_variant(MODIFIER||7385|c.*122G>A|906|GRM1|protein_coding|CODING|NM_001278066.1|9|1),3_prime_UTR_variant(MODIFIER||31|c.*31G>A|908|GRM1|protein_coding|CODING|NM_001278067.1|8|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000117204.2,,0.6258,0.4568,0.5457,0.52,0.49,0.53,,,,,,,,,,,,,,,,
missense_variant,GRM1,MISSENSE,NM_001278064.1:p.Ser993Pro/c.2977T>C,Tcc/Ccc,MODERATE,COSM4160267(1),0.604034,0.5466,rs6923492,1(T),0.0(B),-0.695(N),-1.0438(T),,chr6,146755324,146755324,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser993Pro/c.2977T>C|1194|GRM1|protein_coding|CODING|NM_001278064.1|8|1),3_prime_UTR_variant(MODIFIER||7569|c.*341T>C|906|GRM1|protein_coding|CODING|NM_001278065.1|10|1),3_prime_UTR_variant(MODIFIER||7569|c.*306T>C|906|GRM1|protein_coding|CODING|NM_001278066.1|9|1),3_prime_UTR_variant(MODIFIER||215|c.*215T>C|908|GRM1|protein_coding|CODING|NM_001278067.1|8|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000117205.2,,0.6299,0.4726,0.5457,0.59,0.71,0.53,,0.145675(N),1.000(P),"-2.36,-2.36(D,D)",0.1357(T),0.016,-0.517781,5.38,3.42,-0.642000,0.607000,0.444000,0.571000,0.720000,0.000000,8.5533
synonymous_variant,GRM1,SILENT,NM_001278064.1:p.Gly1056Gly/c.3168T>G,ggT/ggG,LOW,,0.690695,0.6131,rs6923864,,,,,,chr6,146755515,146755515,T,G,het,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly1056Gly/c.3168T>G|1194|GRM1|protein_coding|CODING|NM_001278064.1|8|1),3_prime_UTR_variant(MODIFIER||7760|c.*532T>G|906|GRM1|protein_coding|CODING|NM_001278065.1|10|1),3_prime_UTR_variant(MODIFIER||7760|c.*497T>G|906|GRM1|protein_coding|CODING|NM_001278066.1|9|1),3_prime_UTR_variant(MODIFIER||406|c.*406T>G|908|GRM1|protein_coding|CODING|NM_001278067.1|8|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000117206.2,,0.6646,0.5101,0.5815,0.67,0.89,0.57,,,,,,,,,,,,,,,,
synonymous_variant,GRM1,SILENT,NM_001278064.1:p.Pro1165Pro/c.3495C>A,ccC/ccA,LOW,COSM4160268(1),0.592652,0.5466,rs9373491,,,,,,chr6,146755842,146755842,C,A,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1165Pro/c.3495C>A|1194|GRM1|protein_coding|CODING|NM_001278064.1|8|1),3_prime_UTR_variant(MODIFIER||8087|c.*859C>A|906|GRM1|protein_coding|CODING|NM_001278065.1|10|1),3_prime_UTR_variant(MODIFIER||8087|c.*824C>A|906|GRM1|protein_coding|CODING|NM_001278066.1|9|1),3_prime_UTR_variant(MODIFIER||733|c.*733C>A|908|GRM1|protein_coding|CODING|NM_001278067.1|8|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000117208.2,,0.6288,0.4726,0.5457,0.58,0.68,0.53,,,,,,,,,,,,,,,,
synonymous_variant,ADGB,SILENT,NM_024694.3:p.Gly1071Gly/c.3213C>T,ggC/ggT,LOW,COSM3761517(2),0.160543,0.1954,rs9647637,,,,,,chr6,147067093,147067093,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1071Gly/c.3213C>T|1667|ADGB|protein_coding|CODING|NM_024694.3|26|1),,,,,0.2076,0.1542,0.2634,0.21,0.06,0.28,,,,,,,,,,,,,,,,
synonymous_variant,ADGB,SILENT,NM_024694.3:p.Lys1436Lys/c.4308A>G,aaA/aaG,LOW,COSM3761519(3),0.547524,0.4067,rs259391,0(D),,,-1.0015(T),,chr6,147106841,147106841,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1436Lys/c.4308A>G|1667|ADGB|protein_coding|CODING|NM_024694.3|32|1),,,,,0.5562,0.6931,0.5736,0.54,0.56,0.54,,,1.000(P),,0.0382(T),.,-0.105794,3.6,-6.13,-2.123000,-2.182000,-1.146000,0.001000,0.000000,0.000000,4.398
synonymous_variant,STXBP5,SILENT,NM_001127715.2:p.Leu815Leu/c.2445A>G,ctA/ctG,LOW,COSM4003725(2),0.504193,0.2907,rs9390459,,,,-0.9493(T),,chr6,147680359,147680359,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu815Leu/c.2445A>G|1151|STXBP5|protein_coding|CODING|NM_001127715.2|23|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu779Leu/c.2337A>G|1115|STXBP5|protein_coding|CODING|NM_139244.4|21|1)","NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",Coagulation_factor_levels,,,0.5562,0.5605,0.5388,0.56,0.56,0.56,,,0.000(P),,0.0743(T),.,0.133460,5.47,-10.9,-1.998000,-2.482000,-0.110000,0.469000,0.001000,0.687000,17.6718
missense_variant,SASH1,MISSENSE,NM_015278.3:p.Gln884Arg/c.2651A>G,cAa/cGa,MODERATE,COSM4160273(1),0.585064,0.3631,rs208696,1(T),0.0(B),-1.1(N),-0.9755(T),,chr6,148865257,148865257,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln884Arg/c.2651A>G|1247|SASH1|protein_coding|CODING|NM_015278.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6431,0.6196,0.5716,0.63,0.68,0.60,,0.862863(N),1.000(P),1.34(T),0.0070(T),0.007,-1.981279,5.21,-1.65,-0.128000,-0.570000,-0.382000,0.058000,0.000000,0.000000,6.5061
synonymous_variant,TAB2,SILENT,NM_001292034.1:p.Val480Val/c.1440G>A,gtG/gtA,LOW,,0.218051,0.5496,rs3734296,,,,,,chr6,149700491,149700491,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val480Val/c.1440G>A|693|TAB2|protein_coding|CODING|NM_001292034.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val448Val/c.1344G>A|661|TAB2|protein_coding|CODING|NM_001292035.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val480Val/c.1440G>A|693|TAB2|protein_coding|CODING|NM_015093.5|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2004,0.2507,0.0944,0.09,0.06,0.11,,,,,,,,,,,,,,,,
missense_variant,SUMO4,MISSENSE,NM_001002255.1:p.Val55Met/c.163G>A,Gtg/Atg,MODERATE,,0.645966,0.7361,rs237025,1(T),,,-0.9699(T),,chr6,149721690,149721690,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val55Met/c.163G>A|95|SUMO4|protein_coding|CODING|NM_001002255.1|1|1),intron_variant(MODIFIER|||c.1939+1370G>A|693|TAB2|protein_coding|CODING|NM_001292034.1|6|1),intron_variant(MODIFIER|||c.1843+1370G>A|661|TAB2|protein_coding|CODING|NM_001292035.1|5|1),intron_variant(MODIFIER|||c.1939+1370G>A|693|TAB2|protein_coding|CODING|NM_015093.5|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000002143.1,,0.593,0.5965,0.4821,0.56,0.71,0.49,,0.019357(N),0.000(P),1.53(T),0.0072(T),0.021,-2.845235,0.235,-0.47,-1.786000,-1.808000,1.180000,0.011000,0.011000,1.000000,5.2813
synonymous_variant,TAB2,SILENT,NM_001292034.1:p.Arg691Arg/c.2073G>A,agG/agA,LOW,,0.217452,0.5496,rs386603311,,,,,,chr6,149730846,149730846,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg691Arg/c.2073G>A|693|TAB2|protein_coding|CODING|NM_001292034.1|7|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg659Arg/c.1977G>A|661|TAB2|protein_coding|CODING|NM_001292035.1|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg691Arg/c.2073G>A|693|TAB2|protein_coding|CODING|NM_015093.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1973,0.2507,0.0944,0.09,0.06,0.11,,,,,,,,,,,,,,,,
missense_variant,ZC3H12D,MISSENSE,NM_207360.2:p.Pro405Ser/c.1213C>T,Cct/Tct,MODERATE,COSM166888(6),0.335863,0.7649,rs112722576,0.31(T),0.0(B),0.14(N),-0.9472(T),,chr6,149772190,149772190,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro405Ser/c.1213C>T|527|ZC3H12D|protein_coding|CODING|NM_207360.2|6|1),"HeLa-S3:DNase1,HUVEC:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HeLa-S3:H3K4me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.2914,0.389,0.1412,0.13,0.15,0.13,,,1.000(P),"1.53,1.5(T,T)",0.0068(T),0.044,2.466986,2.45,-1.9,0.313000,-0.300000,0.541000,0.563000,0.000000,0.002000,3.5413
missense_variant,ZC3H12D,MISSENSE,NM_207360.2:p.Lys106Arg/c.317A>G,aAa/aGa,MODERATE,,0.0167732,0,rs61997220,0.05(D),"0.996,0.998(D,D)",1.865(L),-0.8040(T),,chr6,149783095,149783095,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys106Arg/c.317A>G|527|ZC3H12D|protein_coding|CODING|NM_207360.2|3|1),"GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0418,0.0467,0.05,0.02,0.06,,0.000000(D),0.993(D),"0.94,0.94,0.94,0.94,0.94(T,T,T,T,T)",0.1750(T),0.25,4.631644,5.19,5.19,0.460000,2.187000,7.388000,0.994000,1.000000,1.000000,15.2075
missense_variant,ZC3H12D,MISSENSE,NM_207360.2:p.Pro53Leu/c.158C>T,cCg/cTg,MODERATE,COSM3761528(1),0.180312,0.0169,rs7747948,0.25(T),"0.012,0.042(B,B)",1.24(L),-1.0581(T),,chr6,149795522,149795522,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro53Leu/c.158C>T|527|ZC3H12D|protein_coding|CODING|NM_207360.2|2|1),"HUVEC:H3K27me3,HepG2:Nrsf,GM12878:H3K36me3,CD4:H4K20me1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:Nrsf,IMR90:H3K27me3,H1ESC:Nrsf,K562:Nrsf,GM06990:H3K36me3,GM12878:Nrsf",,,,0.1166,0.1902,0.2465,0.27,0.28,0.27,,,1.000(P),"1.49,1.53,1.49,1.54,0.94(T,T,T,T,T)",0.0237(T),0.1,0.971885,4.46,-0.297,-0.457000,0.027000,-0.044000,0.046000,0.001000,0.000000,5.0201
synonymous_variant,KATNA1,SILENT,NM_007044.3:p.Leu78Leu/c.234G>A,ctG/ctA,LOW,COSM3761529(1),0.561502,0.8224,rs9800580,,,,,,chr6,149953981,149953981,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu78Leu/c.234G>A|311|KATNA1|protein_coding|CODING|NM_001204076.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu78Leu/c.234G>A|491|KATNA1|protein_coding|CODING|NM_007044.3|3|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3845,0.6398,0.3579,0.43,0.57,0.36,,,,,,,,,,,,,,,,
synonymous_variant,LATS1,SILENT,NM_004690.3:p.Asp1014Asp/c.3042C>T,gaC/gaT,LOW,COSM3761530(1),0.550719,0.8214,rs3924871,,,,,,chr6,149983216,149983216,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1014Asp/c.3042C>T|1130|LATS1|protein_coding|CODING|NM_004690.3|8|1),non_coding_exon_variant(MODIFIER|||n.3496C>T||LATS1||CODING|NR_073033.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.6326,0.3588,0.42,0.54,0.36,,,,,,,,,,,,,,,,
synonymous_variant,LATS1,SILENT,NM_004690.3:p.Ser482Ser/c.1446T>C,tcT/tcC,LOW,COSM3761533(1),0.552316,0.8244,rs3798761,,,,,,chr6,150004779,150004779,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser482Ser/c.1446T>C|690|LATS1|protein_coding|CODING|NM_001270519.1|4|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser482Ser/c.1446T>C|1130|LATS1|protein_coding|CODING|NM_004690.3|4|1),non_coding_exon_variant(MODIFIER|||n.1900T>C||LATS1||CODING|NR_073033.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3773,0.6369,0.3579,0.42,0.54,0.36,,,,,,,,,,,,,,,,
missense_variant,PCMT1,MISSENSE,NM_001252049.1:p.Val178Ile/c.532G>A,Gta/Ata,MODERATE,COSM3761538(1),0.667332,0.8343,rs4816,0.39(T),"0.001,0.0,0.0(B,B,B)",-0.575(N),-1.0251(T),,chr6,150114745,150114745,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val178Ile/c.532G>A|286|PCMT1|protein_coding|CODING|NM_001252049.1|5|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val143Ile/c.427G>A|250|PCMT1|protein_coding|CODING|NM_001252050.1|4|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val143Ile/c.427G>A|250|PCMT1|protein_coding|CODING|NM_001252051.1|4|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val143Ile/c.427G>A|251|PCMT1|protein_coding|CODING|NM_001252052.1|4|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val178Ile/c.532G>A|285|PCMT1|protein_coding|CODING|NM_001252053.1|5|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val178Ile/c.532G>A|285|PCMT1|protein_coding|CODING|NM_005389.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4847,0.6715,0.3678,0.52,0.80,0.37,,0.000000(N),1.000(P),"1.0,1.0,1.0,1.0,0.99,1.98(T,T,T,T,T,T)",0.0172(T),0.078,1.575546,5.77,4.61,-0.332000,0.453000,2.084000,0.990000,1.000000,0.980000,10.4629
synonymous_variant,LRP11,SILENT,NM_032832.5:p.Val145Val/c.435G>A,gtG/gtA,LOW,,0.0175719,0,rs187967019,,,,,,chr6,150184722,150184722,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val145Val/c.435G>A|500|LRP11|protein_coding|CODING|NM_032832.5|1|1),non_coding_exon_variant(MODIFIER|||n.89C>T||RAET1E-AS1||NON_CODING|NR_045126.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,HUVEC:PolII,HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Nrsf,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0286,0.0202,0.0457,,,,,,,,,,,,,,,,,,,
missense_variant,RAET1E,MISSENSE,NM_139165.2:p.Tyr82Asn/c.244T>A,Tat/Aat,MODERATE,,0.873403,0.9524,rs2151910,1(T),"0.0,0.0,0.0(B,B,B)",-2.3(N),-0.9668(T),,chr6,150211123,150211123,A,T,het,"missense_variant(MODERATE|MISSENSE|Tat/Aat|p.Tyr46Asn/c.136T>A|227|RAET1E|protein_coding|CODING|NM_001243325.1|2|1),missense_variant(MODERATE|MISSENSE|Tat/Aat|p.Tyr82Asn/c.244T>A|209|RAET1E|protein_coding|CODING|NM_001243327.1|2|1),missense_variant(MODERATE|MISSENSE|Tat/Aat|p.Tyr82Asn/c.244T>A|212|RAET1E|protein_coding|CODING|NM_001243328.1|3|1),missense_variant(MODERATE|MISSENSE|Tat/Aat|p.Tyr82Asn/c.244T>A|263|RAET1E|protein_coding|CODING|NM_139165.2|2|1),upstream_gene_variant(MODIFIER||116|||RAET1E-AS1||NON_CODING|NR_045127.1||1),intron_variant(MODIFIER|||n.885+25605A>T||RAET1E-AS1||NON_CODING|NR_045126.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8466,0.7277,0.7744,0.82,0.95,0.76,,0.021877(N),1.000(P),"3.02,3.02,5.88,3.02(T,T,T,T)",0.0010(T),0.041,-1.090630,3.73,2.51,-0.336000,0.249000,0.220000,0.147000,0.002000,0.000000,4.354
synonymous_variant,ULBP2,SILENT,NM_025217.2:p.Pro73Pro/c.219T>C,ccT/ccC,LOW,,0.0253594,0.0079,rs149454018,,,,,,chr6,150266578,150266578,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro73Pro/c.219T>C|246|ULBP2|protein_coding|CODING|NM_025217.2|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.002,0.0072,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,ULBP2,SILENT,NM_025217.2:p.Ala123Ala/c.369A>C,gcA/gcC,LOW,COSM3761547(3),0.692292,0.8046,rs2282235,,,,,,chr6,150267527,150267527,A,C,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala123Ala/c.369A>C|246|ULBP2|protein_coding|CODING|NM_025217.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5511,0.5922,0.5606,,,,,,,,,,,,,,,,,,,
missense_variant,RAET1L,MISSENSE,NM_130900.2:p.Thr147Ile/c.440C>T,aCc/aTc,MODERATE,COSM4003729(1),0.329073,0.2401,rs61730071,0.32(T),0.002(B),-0.255(N),-1.0357(T),,chr6,150342232,150342232,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr147Ile/c.440C>T|246|RAET1L|protein_coding|CODING|NM_130900.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3681,0.2925,0.4394,0.40,0.31,0.45,,,1.000(P),"5.79,5.79(T,T)",0.0004(T),0.043,-2.509455,1.91,-0.819,-1.305000,-0.646000,-1.278000,0.000000,0.000000,0.000000,2.1695
missense_variant,RAET1L,MISSENSE,NM_130900.2:p.Arg26Gly/c.76A>G,Agg/Ggg,MODERATE,COSM4006147(3),0.405152,0.245,rs1543547,0.38(T),0.0(B),-1.245(N),-1.0946(T),,chr6,150346532,150346532,T,C,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg26Gly/c.76A>G|246|RAET1L|protein_coding|CODING|NM_130900.2|1|1),"NHEK:H3K9ac,HeLa-S3:DNase1,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,HUVEC:DNase1,K562:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.408,0.4035,0.4523,0.46,0.47,0.45,,,1.000(P),"5.77,5.77(T,T)",0.0003(T),0.026,-2.352112,0.428,0.428,-0.971000,-0.417000,-1.048000,0.002000,0.001000,0.000000,.
missense_variant,IYD,MISSENSE,NM_001164694.1:p.Cys265Arg/c.793T>C,Tgc/Cgc,MODERATE,,0.872005,0.7946,rs612421,0.05(D),0.0(B),1.1(L),-0.8938(T),,chr6,150716696,150716696,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys265Arg/c.793T>C|293|IYD|protein_coding|CODING|NM_001164694.1|5|1),intron_variant(MODIFIER|||c.687+1305T>C|289|IYD|protein_coding|CODING|NM_203395.2|4|1),intron_variant(MODIFIER|||c.*4+106T>C|247|IYD|protein_coding|CODING|NM_001164695.1|5|1)","NHEK:CTCF,HUVEC:H3K27me3,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,NH-A:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:DNase1,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.7883,0.8473,0.9175,0.92,0.96,0.91,,0.580605(N),1.000(P),"-2.08,-2.19,-2.28(D,D,D)",0.2163(T),0.053,-1.074550,3.06,-6.12,-3.017000,-1.846000,-2.976000,0.001000,0.000000,0.000000,2.8501
synonymous_variant,PLEKHG1,SILENT,NM_001029884.1:p.Glu230Glu/c.690G>A,gaG/gaA,LOW,COSM1179832(3),0.652756,0.8046,rs2073061,,,,,,chr6,151121915,151121915,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu230Glu/c.690G>A|1385|PLEKHG1|protein_coding|CODING|NM_001029884.1|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5624,0.5216,0.4841,0.57,0.75,0.47,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHG1,SILENT,NM_001029884.1:p.Arg604Arg/c.1812G>A,agG/agA,LOW,,0.13778,0.128,rs2073065,,,,,,chr6,151152059,151152059,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg604Arg/c.1812G>A|1385|PLEKHG1|protein_coding|CODING|NM_001029884.1|16|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2035,0.2046,0.1252,0.12,0.08,0.15,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHG1,SILENT,NM_001029884.1:p.Thr803Thr/c.2409T>C,acT/acC,LOW,COSM4160285(2),0.63738,0.5397,rs803411,,,,,,chr6,151152656,151152656,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr803Thr/c.2409T>C|1385|PLEKHG1|protein_coding|CODING|NM_001029884.1|16|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6391,0.7205,0.7107,0.69,0.65,0.72,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHG1,SILENT,NM_001029884.1:p.Arg1048Arg/c.3144A>G,agA/agG,LOW,,0.127396,0.1071,rs17348890,,,,,,chr6,151161018,151161018,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg1048Arg/c.3144A>G|1385|PLEKHG1|protein_coding|CODING|NM_001029884.1|17|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.2133,0.1461,0.13,0.06,0.16,,,,,,,,,,,,,,,,
synonymous_variant,MTHFD1L,SILENT,NM_001242767.1:p.Ser833Ser/c.2499C>G,tcC/tcG,LOW,COSM3761549(1),0.570288,0.6766,rs509474,,,,,,chr6,151336739,151336739,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser833Ser/c.2499C>G|979|MTHFD1L|protein_coding|CODING|NM_001242767.1|24|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser767Ser/c.2301C>G|913|MTHFD1L|protein_coding|CODING|NM_001242768.1|24|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser832Ser/c.2496C>G|978|MTHFD1L|protein_coding|CODING|NM_015440.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.4726,0.4374,0.57,0.80,0.45,,,,,,,,,,,,,,,,
synonymous_variant,AKAP12,SILENT,NM_005100.3:p.Thr105Thr/c.315A>G,acA/acG,LOW,COSM3761551(2),0.23103,0.0615,rs2294792,,,,,,chr6,151627034,151627034,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr105Thr/c.315A>G|1782|AKAP12|protein_coding|CODING|NM_005100.3|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2454,0.3674,0.4423,0.35,0.18,0.44,,,,,,,,,,,,,,,,
missense_variant,AKAP12,MISSENSE,NM_005100.3:p.Lys117Glu/c.349A>G,Aaa/Gaa,MODERATE,COSM4160297(2),0.686701,0.5804,rs10872670,1(T),"0.0,0.0,0.0(B,B,B)",-1.12(N),-0.9571(T),,chr6,151669875,151669875,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys117Glu/c.349A>G|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys19Glu/c.55A>G|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6319,0.781,0.7803,0.76,0.70,0.79,,0.001007(N),1.000(P),"3.4,3.4,3.34,3.42(T,T,T,T)",0.0012(T),0.051,-0.497089,5.55,2.8,-0.981000,0.412000,0.382000,0.069000,0.010000,0.127000,1.3779
missense_variant,AKAP12,MISSENSE,NM_005100.3:p.Lys216Gln/c.646A>C,Aag/Cag,MODERATE,,0.54393,0.4593,rs3734799,0.77(T),"0.001,0.001,0.001(B,B,B)",-1.79(N),-0.9223(T),,chr6,151670172,151670172,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys216Gln/c.646A>C|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys118Gln/c.352A>C|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.593,0.6254,0.7614,0.65,0.43,0.76,,0.559024(N),1.000(P),"3.17,3.17,3.17,3.18(T,T,T,T)",0.0019(T),0.037,-1.286511,5.41,4.49,-0.224000,1.443000,0.834000,0.010000,0.874000,0.012000,8.2812
synonymous_variant,AKAP12,SILENT,NM_005100.3:p.Ser388Ser/c.1164G>A,tcG/tcA,LOW,,0.0792732,0.0099,rs35341741,,,,,,chr6,151670690,151670690,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser388Ser/c.1164G>A|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser290Ser/c.870G>A|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.18,0.0764,0.0875,0.08,0.05,0.09,,,,,,,,,,,,,,,,
synonymous_variant,AKAP12,SILENT,NM_005100.3:p.Ala457Ala/c.1371T>C,gcT/gcC,LOW,,0.711062,0.5863,rs900654,,,,,,chr6,151670897,151670897,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala457Ala/c.1371T>C|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala359Ala/c.1077T>C|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,H1ESC:Nrsf,K562:Nrsf",,,,0.6401,0.7752,0.7843,0.78,0.78,0.79,,,,,,,,,,,,,,,,
missense_variant,AKAP12,MISSENSE,NM_005100.3:p.Glu920Gly/c.2759A>G,gAa/gGa,MODERATE,,0.0966454,0.0099,rs13212161,0.31(T),"0.022,0.022,0.01(B,B,B)",2.24(M),-0.9688(T),,chr6,151672285,151672285,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu920Gly/c.2759A>G|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu822Gly/c.2465A>G|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.181,0.0778,0.0895,0.10,0.10,0.09,,0.462550(N),1.000(P),"2.94,2.94,2.95,2.95(T,T,T,T)",0.0093(T),0.076,2.078920,5.27,-1.87,0.379000,-0.215000,1.177000,0.292000,0.000000,0.667000,1.9513
missense_variant,AKAP12,MISSENSE,NM_005100.3:p.Glu1355Lys/c.4063G>A,Gaa/Aaa,MODERATE,COSM3736406(1),0.105032,0.0099,rs12201388,0.35(T),"0.111,0.111,0.051(B,B,B)",1.04(L),-0.9808(T),,chr6,151673589,151673589,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu1355Lys/c.4063G>A|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu1257Lys/c.3769G>A|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1748,0.0821,0.0905,0.11,0.14,0.09,,0.084466(N),1.000(P),"2.72,2.72,2.76,2.76(T,T,T,T)",0.0114(T),0.116,3.454013,4.21,3.33,0.557000,2.348000,1.413000,0.011000,0.027000,0.506000,11.7204
missense_variant,AKAP12,MISSENSE,NM_005100.3:p.Val1582Met/c.4744G>A,Gtg/Atg,MODERATE,COSM3736407(1),0.0788738,0.0099,rs34713284,0.11(T),"0.007,0.007,0.003(B,B,B)",0.345(N),-0.9316(T),,chr6,151674270,151674270,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1582Met/c.4744G>A|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1484Met/c.4450G>A|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.1748,0.0764,0.0895,0.08,0.05,0.09,,0.004913(N),1.000(P),"3.07,3.07,3.09,3.09(T,T,T,T)",0.0042(T),0.029,0.912287,5.01,-5.13,-2.616000,-0.603000,-1.048000,0.001000,0.000000,0.000000,2.9664
missense_variant,AKAP12,MISSENSE,NM_005100.3:p.Glu1600Asp/c.4800A>C,gaA/gaC,MODERATE,COSM4160299(1),0.438898,0.4355,rs3823310,0.41(T),"0.006,0.006,0.003(B,B,B)",-0.145(N),-0.9397(T),,chr6,151674326,151674326,A,C,het,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu1600Asp/c.4800A>C|1782|AKAP12|protein_coding|CODING|NM_005100.3|4|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu1502Asp/c.4506A>C|1684|AKAP12|protein_coding|CODING|NM_144497.2|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.4254,0.5476,0.668,0.55,0.33,0.67,,0.045043(N),1.000(P),"3.18,3.18,3.19,3.19(T,T,T,T)",0.0024(T),0.034,0.573064,4.44,-4.35,0.528000,-0.789000,-0.729000,0.024000,0.000000,0.000000,2.0017
synonymous_variant,ZBTB2,SILENT,NM_020861.1:p.Glu432Glu/c.1296G>A,gaG/gaA,LOW,COSM4003737(1),0.423922,0.2778,rs11155787,,,,,,chr6,151686905,151686905,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu432Glu/c.1296G>A|514|ZBTB2|protein_coding|CODING|NM_020861.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.5447,0.6382,0.55,0.39,0.64,,,,,,,,,,,,,,,,
missense_variant,RMND1,MISSENSE,NM_017909.3:p.Ser42Ile/c.125G>T,aGc/aTc,MODERATE,COSM1579567(1),0.0722843,0.0159,rs11550103,0.22(T),"0.015,0.001(B,B)",0(N),-1.0203(T),,chr6,151766822,151766822,C,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser42Ile/c.125G>T|449|RMND1|protein_coding|CODING|NM_017909.3|2|1),intron_variant(MODIFIER|||c.-7+6329G>T|279|RMND1|protein_coding|CODING|NM_001271937.1|1|1)","H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1155,0.0764,0.1193,0.10,0.06,0.13,,0.514092(N),1.000(P),0.91(T),0.0165(T),0.023,1.288088,5.46,-3.36,0.563000,-0.325000,-0.509000,0.078000,0.000000,0.000000,2.8012
missense_variant,C6orf211,MISSENSE,NM_024573.2:p.Ala317Thr/c.949G>A,Gct/Act,MODERATE,COSM450694(1),0.0790735,0.0159,rs35972078,0.48(T),0.004(B),0.305(N),-0.9428(T),,chr6,151789868,151789868,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala198Thr/c.592G>A|322|C6orf211|protein_coding|CODING|NM_001286562.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala317Thr/c.949G>A|441|C6orf211|protein_coding|CODING|NM_024573.2|5|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1227,0.0778,0.1183,0.11,0.07,0.13,,0.477484(N),1.000(P),"3.21,3.21(T,T)",0.0050(T),0.025,0.329209,6.16,3.03,0.650000,0.908000,1.691000,0.262000,0.736000,0.942000,7.1424
missense_variant,CCDC170,MISSENSE,NM_025059.3:p.Ala269Val/c.806C>T,gCt/gTt,MODERATE,,0.0766773,0.0704,rs12205837,0.23(T),0.015(B),1.25(L),-0.9876(T),,chr6,151894340,151894340,C,T,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala269Val/c.806C>T|715|CCDC170|protein_coding|CODING|NM_025059.3|6|1),GM12878:H3K36me3,,,,0.0706,0.0865,0.0795,0.10,0.07,0.11,,0.037710(N),0.981(P),"3.1,3.07(T,T)",0.0078(T),0.084,2.174854,5.35,2.34,0.643000,1.317000,0.908000,0.813000,0.825000,0.730000,9.0511
missense_variant,CCDC170,MISSENSE,NM_025059.3:p.Phe324Ser/c.971T>C,tTc/tCc,MODERATE,,0.941693,0.996,rs386623268,0.7(T),0.0(B),-1.1(N),-0.9260(T),,chr6,151894505,151894505,T,C,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe324Ser/c.971T>C|715|CCDC170|protein_coding|CODING|NM_025059.3|6|1),GM12878:H3K36me3,,,,0.8885,0.9352,0.8757,0.91,0.98,0.88,,0.589912(N),1.000(P),"3.25,3.25(T,T)",0.0020(T),0.036,-1.022154,5.36,2.45,-0.131000,0.769000,-0.169000,0.759000,0.012000,0.000000,1.6293
missense_variant,CCDC170,MISSENSE,NM_025059.3:p.Arg553Gln/c.1658G>A,cGa/cAa,MODERATE,,0.0155751,0.002,rs34430497,0.35(T),0.081(B),0.385(N),-1.0424(T),,chr6,151917660,151917660,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg553Gln/c.1658G>A|715|CCDC170|protein_coding|CODING|NM_025059.3|9|1),,,,,0.0041,0.0346,0.0447,0.04,0.01,0.06,,0.203618(N),1.000(N),"2.76,-1.09(T,T)",0.0730(T),0.05,0.475110,5.63,1.89,-0.150000,0.064000,0.592000,0.002000,0.005000,0.029000,5.0724
missense_variant,CCDC170,MISSENSE,NM_025059.3:p.Val604Ile/c.1810G>A,Gtc/Atc,MODERATE,COSM3761553(2),0.349441,0.3333,rs6929137,0.36(T),0.015(B),1.345(L),-1.0055(T),,chr6,151936677,151936677,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val604Ile/c.1810G>A|715|CCDC170|protein_coding|CODING|NM_025059.3|10|1),HUVEC:H3K27me3,Bone_mineral_density_spine,,,0.2975,0.245,0.2952,0.38,0.49,0.33,,0.007735(N),0.099(P),"3.03,-0.99(T,T)",0.1364(T),0.036,1.368391,6.16,3.37,-0.145000,0.910000,1.023000,0.575000,0.486000,0.662000,9.8684
missense_variant,CCDC170,MISSENSE,NM_025059.3:p.Val683Ile/c.2047G>A,Gtc/Atc,MODERATE,,0.53155,0.4276,rs3734804,1(T),0.002(B),-2.075(N),-0.9481(T),,chr6,151939181,151939181,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val683Ile/c.2047G>A|715|CCDC170|protein_coding|CODING|NM_025059.3|11|1),"GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4703,0.3804,0.504,0.61,0.76,0.53,,0.000881(N),1.000(P),"3.56,3.55(T,T)",0.0008(T),0.043,-0.212916,5.96,3.55,-0.254000,0.146000,1.248000,0.637000,0.998000,1.000000,7.4255
synonymous_variant,ESR1,SILENT,NM_001291230.1:p.Ser10Ser/c.30T>C,tcT/tcC,LOW,COSM3761554(1),0.466454,0.378,rs2077647,,,,,,chr6,152129077,152129077,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser10Ser/c.30T>C|595|ESR1|protein_coding|CODING|NM_000125.3|1|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser10Ser/c.30T>C|595|ESR1|protein_coding|CODING|NM_001122740.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser10Ser/c.30T>C|595|ESR1|protein_coding|CODING|NM_001122741.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser10Ser/c.30T>C|595|ESR1|protein_coding|CODING|NM_001122742.1|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser10Ser/c.30T>C|597|ESR1|protein_coding|CODING|NM_001291230.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser10Ser/c.30T>C|594|ESR1|protein_coding|CODING|NM_001291241.1|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.5102,0.4654,0.4414,0.48,0.48,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ESR1,SILENT,NM_001291230.1:p.Arg245Arg/c.735T>C,cgT/cgC,LOW,,0.985623,1,rs4986934,,,,-1.0624(T),,chr6,152201875,152201875,T,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg243Arg/c.729T>C|594|ESR1|protein_coding|CODING|NM_001291241.1|4|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg243Arg/c.729T>C|595|ESR1|protein_coding|CODING|NM_000125.3|3|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg243Arg/c.729T>C|595|ESR1|protein_coding|CODING|NM_001122740.1|4|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg243Arg/c.729T>C|595|ESR1|protein_coding|CODING|NM_001122741.1|4|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg243Arg/c.729T>C|595|ESR1|protein_coding|CODING|NM_001122742.1|5|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg245Arg/c.735T>C|597|ESR1|protein_coding|CODING|NM_001291230.1|4|1)",,,,,0.9877,0.964,0.9692,0.97,0.99,0.96,,,0.000(P),,0.0500(T),.,1.640826,5.42,2.11,-0.119000,0.222000,-0.059000,0.991000,0.996000,0.819000,5.3662
synonymous_variant,ESR1,SILENT,NM_001291230.1:p.Pro327Pro/c.981G>C,ccG/ccC,LOW,COSM4003741(1),0.717652,0.498,rs1801132,,,,-0.9881(T),,chr6,152265522,152265522,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro325Pro/c.975G>C|595|ESR1|protein_coding|CODING|NM_000125.3|4|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro325Pro/c.975G>C|595|ESR1|protein_coding|CODING|NM_001122740.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro325Pro/c.975G>C|595|ESR1|protein_coding|CODING|NM_001122741.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro325Pro/c.975G>C|595|ESR1|protein_coding|CODING|NM_001122742.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro327Pro/c.981G>C|597|ESR1|protein_coding|CODING|NM_001291230.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro324Pro/c.972G>C|594|ESR1|protein_coding|CODING|NM_001291241.1|5|1)",HepG2:H3K27me3,,,,0.5695,0.7291,0.7893,0.81,0.89,0.77,,,0.000(P),,0.0193(T),.,-0.538716,5.66,-1.61,-1.737000,-0.415000,-1.169000,0.393000,0.014000,0.000000,2.1439
synonymous_variant,SYNE1,SILENT,NM_182961.3:p.Leu7603Leu/c.22809C>T,ctC/ctT,LOW,,0.00339457,0,rs34630198,,,,,,chr6,152529122,152529122,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu7532Leu/c.22596C>T|8749|SYNE1|protein_coding|CODING|NM_033071.3|124|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu7603Leu/c.22809C>T|8797|SYNE1|protein_coding|CODING|NM_182961.3|125|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000118464.2,,0.002,0.0029,0.0119,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,SYNE1,MISSENSE,NM_182961.3:p.Phe7302Val/c.21904T>G,Ttt/Gtt,MODERATE,,0.995607,1,rs2147377,0.55(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.935(N),-0.9743(T),,chr6,152540278,152540278,A,C,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe7231Val/c.21691T>G|8749|SYNE1|protein_coding|CODING|NM_033071.3|119|1),missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe7302Val/c.21904T>G|8797|SYNE1|protein_coding|CODING|NM_182961.3|120|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000118459.2,,1,0.9899,0.9861,0.99,1.00,0.99,,0.002929(N),0.000(P),"0.82,0.83,0.73,0.83,0.91,2.82,1.83(T,T,T,T,T,T,T)",0.0092(T),0.1,-1.314890,5.79,3.99,-0.127000,0.367000,1.349000,0.025000,0.383000,0.931000,5.9828
missense_variant,SYNE1,MISSENSE,NM_182961.3:p.Asp4148His/c.12442G>C,Gat/Cat,MODERATE,,0.0123802,0,rs117501809,0.02(D),"0.985,0.985,0.985,0.994(D,D,D,D)",2.075(M),-0.5089(T),,chr6,152658062,152658062,C,G,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp4077His/c.12229G>C|8749|SYNE1|protein_coding|CODING|NM_033071.3|75|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp4148His/c.12442G>C|8797|SYNE1|protein_coding|CODING|NM_182961.3|76|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000118441.2,,0.0245,0.013,0.0278,0.02,0.01,0.03,,0.000010(D),1.000(D),"0.53,0.41,0.43,0.42,0.56(T,T,T,T,T)",0.2898(T),0.348,3.859388,5.47,5.47,0.655000,2.572000,7.815000,0.866000,1.000000,1.000000,19.325
synonymous_variant,SYNE1,SILENT,NM_182961.3:p.Gly3397Gly/c.10191C>A,ggC/ggA,LOW,,0.659145,0.7927,rs4407724,,,,,,chr6,152683413,152683413,G,T,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly3404Gly/c.10212C>A|8749|SYNE1|protein_coding|CODING|NM_033071.3|64|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly3397Gly/c.10191C>A|8797|SYNE1|protein_coding|CODING|NM_182961.3|64|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,RCV000118428.2,,0.593,0.6859,0.6799,0.65,0.58,0.68,,,,,,,,,,,,,,,,
missense_variant,SYNE1,MISSENSE,NM_182961.3:p.Ala2795Val/c.8384C>T,gCg/gTg,MODERATE,COSM3761573(1),0.249002,0.4018,rs214950,0.21(T),"0.001,0.003,0.003,0.012(B,B,B,B)",0.69(N),-1.0293(T),,chr6,152708310,152708310,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2802Val/c.8405C>T|8749|SYNE1|protein_coding|CODING|NM_033071.3|54|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2795Val/c.8384C>T|8797|SYNE1|protein_coding|CODING|NM_182961.3|54|1)",,,RCV000118492.2,,0.318,0.1614,0.2167,0.20,0.16,0.22,,0.020718(N),0.981(P),"1.27,1.27,1.27,1.27,1.27(T,T,T,T,T)",0.0172(T),0.046,0.089763,5.7,1.51,-0.822000,0.350000,4.552000,0.007000,0.000000,0.998000,2.1478
missense_variant,SYNE1,MISSENSE,NM_182961.3:p.Val1035Ala/c.3104T>C,gTa/gCa,MODERATE,,0.607228,0.749,rs214976,0.06(T),"0.045,0.011,0.157,0.157,0.011,0.164(B,B,B,B,B,B)",1.955(M),0.1079(D),,chr6,152772264,152772264,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val1042Ala/c.3125T>C|8749|SYNE1|protein_coding|CODING|NM_033071.3|26|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val1035Ala/c.3104T>C|8797|SYNE1|protein_coding|CODING|NM_182961.3|26|1)",IMR90:H3K36me3,,RCV000118478.2,,0.5194,0.3732,0.4473,0.53,0.73,0.43,,0.324693(N),0.000(P),"0.55,0.54,0.46,0.54,0.63,-2.29,-2.44,-2.43(T,T,T,T,T,D,D,D)",0.5358(D),0.276,3.745785,5.84,5.84,0.529000,2.367000,8.644000,0.991000,0.005000,0.985000,16.5601
missense_variant,FBXO5,MISSENSE,NM_012177.3:p.Gln107Glu/c.319C>G,Caa/Gaa,MODERATE,COSM3761597(1),0.772764,0.5982,rs2073260,1(T),0.0(B),-1.78(N),-0.9226(T),,chr6,153296541,153296541,G,C,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln61Glu/c.181C>G|401|FBXO5|protein_coding|CODING|NM_001142522.1|2|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln107Glu/c.319C>G|447|FBXO5|protein_coding|CODING|NM_012177.3|2|1)","H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.7883,0.7363,0.6799,0.76,0.93,0.67,,0.059484(N),1.000(P),"1.76,1.74(T,T)",0.0040(T),0.021,-1.650753,5.4,4.54,-0.120000,0.675000,0.756000,0.598000,0.442000,0.059000,6.968
missense_variant,MTRF1L,MISSENSE,NM_019041.5:p.Arg76Gln/c.227G>A,cGg/cAg,MODERATE,COSM3761600(1),,,rs3818123,1(T),"0.001,0.001,0.0(B,B,B)",0(N),-0.9082(T),,chr6,153323594,153323594,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg76Gln/c.227G>A|271|MTRF1L|protein_coding|CODING|NM_001114184.1|1|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg76Gln/c.227G>A|235|MTRF1L|protein_coding|CODING|NM_001301047.1|1|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg76Gln/c.227G>A|380|MTRF1L|protein_coding|CODING|NM_019041.5|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1",,,,,,,0.69,0.71,0.68,,0.387104(N),0.972(P),"2.81,2.81,2.81(T,T,T)",0.0038(T),0.031,-0.801645,4.9,-1.77,-0.972000,-0.841000,-2.545000,0.007000,0.935000,0.001000,13.1372
missense_variant,MTRF1L,MISSENSE,NM_019041.5:p.Thr38Ala/c.112A>G,Acc/Gcc,MODERATE,,0.659345,0.5357,rs3818125,0.84(T),"0.0,0.0,0.0(B,B,B)",-0.975(N),-0.9482(T),,chr6,153323709,153323709,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr38Ala/c.112A>G|271|MTRF1L|protein_coding|CODING|NM_001114184.1|1|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr38Ala/c.112A>G|235|MTRF1L|protein_coding|CODING|NM_001301047.1|1|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr38Ala/c.112A>G|380|MTRF1L|protein_coding|CODING|NM_019041.5|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,GM12878:ZBTB33,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,0.6411,0.7262,0.6948,,,,,0.027097(N),1.000(P),"2.94,2.73,2.87(T,T,T)",0.0026(T),0.051,-1.602205,4.9,-0.2,-2.292000,-0.173000,0.026000,0.000000,0.368000,0.780000,4.9751
synonymous_variant,RGS17,SILENT,NM_012419.4:p.Ala18Ala/c.54T>G,gcT/gcG,LOW,COSM3761601(2),0.498203,0.6319,rs2295230,,,,,,chr6,153365100,153365100,A,C,het,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala18Ala/c.54T>G|210|RGS17|protein_coding|CODING|NM_012419.4|2|1),"HMEC:H3K36me3,IMR90:H3K36me3",,,,0.5112,0.379,0.2932,0.38,0.55,0.30,,,,,,,,,,,,,,,,
missense_variant,OPRM1,MISSENSE,NM_001145279.3:p.Asn133Asp/c.397A>G,Aac/Gac,MODERATE,COSM3761602(1),0.223442,0.3929,rs1799971,0.01(D),"0.775,0.098,0.005,0.775,0.021,0.007,0.007,0.098,0.535,0.138,0.008(P,B,B,P,B,B,B,B,P,B,B)",0(N),-0.9885(T),,chr6,154360797,154360797,A,G,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|400|OPRM1|protein_coding|CODING|NM_000914.4|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|392|OPRM1|protein_coding|CODING|NM_001008504.3|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|97|OPRM1|protein_coding|CODING|NM_001285522.1|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|414|OPRM1|protein_coding|CODING|NM_001285523.1|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|418|OPRM1|protein_coding|CODING|NM_001008503.2|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|446|OPRM1|protein_coding|CODING|NM_001008505.2|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn133Asp/c.397A>G|493|OPRM1|protein_coding|CODING|NM_001145279.3|3|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|406|OPRM1|protein_coding|CODING|NM_001145282.2|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|397|OPRM1|protein_coding|CODING|NM_001145283.2|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|403|OPRM1|protein_coding|CODING|NM_001145284.3|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|389|OPRM1|protein_coding|CODING|NM_001145285.2|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn40Asp/c.118A>G|420|OPRM1|protein_coding|CODING|NM_001145286.2|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn133Asp/c.397A>G|493|OPRM1|protein_coding|CODING|NM_001285524.1|2|1),intron_variant(MODIFIER|||c.47+29103A>G|319|OPRM1|protein_coding|CODING|NM_001145281.2|1|1),intron_variant(MODIFIER|||c.-11+28644A>G|300|OPRM1|protein_coding|CODING|NM_001145280.3|1|1),non_coding_exon_variant(MODIFIER|||n.252A>G||OPRM1||CODING|NR_104348.1|1|1),non_coding_exon_variant(MODIFIER|||n.252A>G||OPRM1||CODING|NR_104349.1|1|1),non_coding_exon_variant(MODIFIER|||n.252A>G||OPRM1||CODING|NR_104350.1|1|1),non_coding_exon_variant(MODIFIER|||n.252A>G||OPRM1||CODING|NR_104351.1|1|1)","HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NHEK:H3K27me3,HeLa-S3:Nrsf,H1ESC:Nrsf,HMEC:DNase1,H1ESC:Sin3Ak20,K562:Nrsf,GM12878:Nrsf",,RCV000010146.2,,0.4182,0.2003,0.162,0.10,0.03,0.13,,0.136978(N),0.000(P),"2.16,2.16,2.16,2.16,2.16,2.16,2.16,2.16,2.16,2.16,2.16,2.16(T,T,T,T,T,T,T,T,T,T,T,T)",0.0373(T),0.363,4.355925,5.75,5.75,0.477000,2.200000,2.322000,0.977000,1.000000,1.000000,15.0406
missense_variant,OPRM1,MISSENSE,NM_001008505.2:p.Gln402His/c.1206A>T,caA/caT,MODERATE,COSM3761607(2),0.882188,0.9484,rs540825,0.01(D),0.0(B),,-0.9842(T),,chr6,154414446,154414446,A,T,hom,"missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln402His/c.1206A>T|446|OPRM1|protein_coding|CODING|NM_001008505.2|4|1),downstream_gene_variant(MODIFIER||1373||392|OPRM1|protein_coding|CODING|NM_001008504.3||1),downstream_gene_variant(MODIFIER||1373||414|OPRM1|protein_coding|CODING|NM_001285523.1||1),downstream_gene_variant(MODIFIER||1373||292|OPRM1|protein_coding|CODING|NM_001285527.1||1),downstream_gene_variant(MODIFIER||1373||314|OPRM1|protein_coding|CODING|NM_001285528.1||1),intron_variant(MODIFIER|||c.291-25372A>T|97|OPRM1|protein_coding|CODING|NM_001285522.1|1|1),intron_variant(MODIFIER|||n.1299-899A>T||OPRM1||CODING|NR_104348.1|3|1),intron_variant(MODIFIER|||n.1299-899A>T||OPRM1||CODING|NR_104349.1|3|1),intron_variant(MODIFIER|||n.1299-899A>T||OPRM1||CODING|NR_104351.1|3|1),intron_variant(MODIFIER|||c.1164+1839A>T|420|OPRM1|protein_coding|CODING|NM_001145286.2|3|1),intron_variant(MODIFIER|||c.1164+1839A>T|389|OPRM1|protein_coding|CODING|NM_001145285.2|3|1),intron_variant(MODIFIER|||c.1164+1839A>T|403|OPRM1|protein_coding|CODING|NM_001145284.3|3|1),intron_variant(MODIFIER|||c.1164+1839A>T|397|OPRM1|protein_coding|CODING|NM_001145283.2|3|1),intron_variant(MODIFIER|||c.1164+1839A>T|406|OPRM1|protein_coding|CODING|NM_001145282.2|3|1),intron_variant(MODIFIER|||c.1164+1839A>T|400|OPRM1|protein_coding|CODING|NM_000914.4|3|1),intron_variant(MODIFIER|||c.1443+1839A>T|493|OPRM1|protein_coding|CODING|NM_001145279.3|5|1),intron_variant(MODIFIER|||c.864+1839A>T|300|OPRM1|protein_coding|CODING|NM_001145280.3|3|1),intron_variant(MODIFIER|||c.921+1839A>T|319|OPRM1|protein_coding|CODING|NM_001145281.2|3|1),intron_variant(MODIFIER|||c.864+1839A>T|300|OPRM1|protein_coding|CODING|NM_001145287.2|3|1),intron_variant(MODIFIER|||c.1443+1839A>T|493|OPRM1|protein_coding|CODING|NM_001285524.1|4|1),intron_variant(MODIFIER|||c.864+1839A>T|300|OPRM1|protein_coding|CODING|NM_001285526.1|3|1),intron_variant(MODIFIER|||n.945+1839A>T||OPRM1||CODING|NR_104350.1|2|1),intron_variant(MODIFIER|||c.1164+1839A>T|418|OPRM1|protein_coding|CODING|NM_001008503.2|3|1)",GM12878:H3K27me3,,,,0.8712,0.8285,0.7714,0.82,0.94,0.76,,,1.000(P),-0.55(T),0.0963(T),0.039,-0.547683,5.4,-4.63,-1.179000,-0.587000,-0.683000,0.002000,0.000000,0.000000,8.2861
synonymous_variant,OPRM1,SILENT,NM_001008505.2:p.Gly441Gly/c.1323A>G,ggA/ggG,LOW,COSM1441734(2),0.778754,0.9048,rs675026,,,,,,chr6,154414563,154414563,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly441Gly/c.1323A>G|446|OPRM1|protein_coding|CODING|NM_001008505.2|4|1),downstream_gene_variant(MODIFIER||1490||392|OPRM1|protein_coding|CODING|NM_001008504.3||1),downstream_gene_variant(MODIFIER||1490||414|OPRM1|protein_coding|CODING|NM_001285523.1||1),downstream_gene_variant(MODIFIER||1490||292|OPRM1|protein_coding|CODING|NM_001285527.1||1),downstream_gene_variant(MODIFIER||1490||314|OPRM1|protein_coding|CODING|NM_001285528.1||1),intron_variant(MODIFIER|||c.291-25255A>G|97|OPRM1|protein_coding|CODING|NM_001285522.1|1|1),intron_variant(MODIFIER|||n.1299-782A>G||OPRM1||CODING|NR_104348.1|3|1),intron_variant(MODIFIER|||n.1299-782A>G||OPRM1||CODING|NR_104349.1|3|1),intron_variant(MODIFIER|||n.1299-782A>G||OPRM1||CODING|NR_104351.1|3|1),intron_variant(MODIFIER|||c.1164+1956A>G|420|OPRM1|protein_coding|CODING|NM_001145286.2|3|1),intron_variant(MODIFIER|||c.1164+1956A>G|389|OPRM1|protein_coding|CODING|NM_001145285.2|3|1),intron_variant(MODIFIER|||c.1164+1956A>G|403|OPRM1|protein_coding|CODING|NM_001145284.3|3|1),intron_variant(MODIFIER|||c.1164+1956A>G|397|OPRM1|protein_coding|CODING|NM_001145283.2|3|1),intron_variant(MODIFIER|||c.1164+1956A>G|406|OPRM1|protein_coding|CODING|NM_001145282.2|3|1),intron_variant(MODIFIER|||c.1164+1956A>G|400|OPRM1|protein_coding|CODING|NM_000914.4|3|1),intron_variant(MODIFIER|||c.1443+1956A>G|493|OPRM1|protein_coding|CODING|NM_001145279.3|5|1),intron_variant(MODIFIER|||c.864+1956A>G|300|OPRM1|protein_coding|CODING|NM_001145280.3|3|1),intron_variant(MODIFIER|||c.921+1956A>G|319|OPRM1|protein_coding|CODING|NM_001145281.2|3|1),intron_variant(MODIFIER|||c.864+1956A>G|300|OPRM1|protein_coding|CODING|NM_001145287.2|3|1),intron_variant(MODIFIER|||c.1443+1956A>G|493|OPRM1|protein_coding|CODING|NM_001285524.1|4|1),intron_variant(MODIFIER|||c.864+1956A>G|300|OPRM1|protein_coding|CODING|NM_001285526.1|3|1),intron_variant(MODIFIER|||n.945+1956A>G||OPRM1||CODING|NR_104350.1|2|1),intron_variant(MODIFIER|||c.1164+1956A>G|418|OPRM1|protein_coding|CODING|NM_001008503.2|3|1)",,Coronary_heart_disease,,,0.8476,0.7349,0.675,0.69,0.73,0.67,,,,,,,,,,,,,,,,
synonymous_variant,OPRM1,SILENT,NM_001008505.2:p.Leu445Leu/c.1333C>T,Ctg/Ttg,LOW,COSM3761608(1),0.749201,0.9048,rs562859,,,,,,chr6,154414573,154414573,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu445Leu/c.1333C>T|446|OPRM1|protein_coding|CODING|NM_001008505.2|4|1),downstream_gene_variant(MODIFIER||1500||392|OPRM1|protein_coding|CODING|NM_001008504.3||1),downstream_gene_variant(MODIFIER||1500||414|OPRM1|protein_coding|CODING|NM_001285523.1||1),downstream_gene_variant(MODIFIER||1500||292|OPRM1|protein_coding|CODING|NM_001285527.1||1),downstream_gene_variant(MODIFIER||1500||314|OPRM1|protein_coding|CODING|NM_001285528.1||1),intron_variant(MODIFIER|||c.291-25245C>T|97|OPRM1|protein_coding|CODING|NM_001285522.1|1|1),intron_variant(MODIFIER|||n.1299-772C>T||OPRM1||CODING|NR_104348.1|3|1),intron_variant(MODIFIER|||n.1299-772C>T||OPRM1||CODING|NR_104349.1|3|1),intron_variant(MODIFIER|||n.1299-772C>T||OPRM1||CODING|NR_104351.1|3|1),intron_variant(MODIFIER|||c.1164+1966C>T|420|OPRM1|protein_coding|CODING|NM_001145286.2|3|1),intron_variant(MODIFIER|||c.1164+1966C>T|389|OPRM1|protein_coding|CODING|NM_001145285.2|3|1),intron_variant(MODIFIER|||c.1164+1966C>T|403|OPRM1|protein_coding|CODING|NM_001145284.3|3|1),intron_variant(MODIFIER|||c.1164+1966C>T|397|OPRM1|protein_coding|CODING|NM_001145283.2|3|1),intron_variant(MODIFIER|||c.1164+1966C>T|406|OPRM1|protein_coding|CODING|NM_001145282.2|3|1),intron_variant(MODIFIER|||c.1164+1966C>T|400|OPRM1|protein_coding|CODING|NM_000914.4|3|1),intron_variant(MODIFIER|||c.1443+1966C>T|493|OPRM1|protein_coding|CODING|NM_001145279.3|5|1),intron_variant(MODIFIER|||c.864+1966C>T|300|OPRM1|protein_coding|CODING|NM_001145280.3|3|1),intron_variant(MODIFIER|||c.921+1966C>T|319|OPRM1|protein_coding|CODING|NM_001145281.2|3|1),intron_variant(MODIFIER|||c.864+1966C>T|300|OPRM1|protein_coding|CODING|NM_001145287.2|3|1),intron_variant(MODIFIER|||c.1443+1966C>T|493|OPRM1|protein_coding|CODING|NM_001285524.1|4|1),intron_variant(MODIFIER|||c.864+1966C>T|300|OPRM1|protein_coding|CODING|NM_001285526.1|3|1),intron_variant(MODIFIER|||n.945+1966C>T||OPRM1||CODING|NR_104350.1|2|1),intron_variant(MODIFIER|||c.1164+1966C>T|418|OPRM1|protein_coding|CODING|NM_001008503.2|3|1)",,,,,0.8456,0.719,0.675,0.66,0.64,0.67,,,,,,,,,,,,,,,,
missense_variant,TIAM2,MISSENSE,NM_012454.3:p.Arg332His/c.995G>A,cGt/cAt,MODERATE,,0.235224,0.3026,rs931312,0.16(T),0.991(D),2.19(M),-1.1561(T),,chr6,155451352,155451352,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg332His/c.995G>A|1701|TIAM2|protein_coding|CODING|NM_012454.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4417,0.2464,0.175,0.16,0.11,0.18,,0.000000(D),0.000(P),"3.22,3.11,3.2,3.22,3.24,3.2(T,T,T,T,T,T)",0.0471(T),0.767,2.757389,4.99,4.99,0.655000,2.489000,7.136000,0.008000,0.427000,1.000000,16.8516
synonymous_variant,TIAM2,SILENT,NM_012454.3:p.Gln678Gln/c.2034G>A,caG/caA,LOW,COSM4003766(1),0.571086,0.5605,rs1032141,,,,,,chr6,155485554,155485554,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln678Gln/c.2034G>A|1701|TIAM2|protein_coding|CODING|NM_012454.3|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.7025,0.7464,0.6093,0.56,0.44,0.62,,,,,,,,,,,,,,,,
missense_variant,TIAM2,MISSENSE,NM_012454.3:p.Ser1089Pro/c.3265T>C,Tct/Cct,MODERATE,,0.964257,1,rs4259257,0.96(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.04(N),-1.0694(T),,chr6,155561760,155561760,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser14Pro/c.40T>C|626|TIAM2|protein_coding|CODING|NM_001010927.2|2|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser1089Pro/c.3265T>C|1701|TIAM2|protein_coding|CODING|NM_012454.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.9448,0.9841,0.9901,0.97,0.92,0.99,,0.000001(N),0.997(P),"-0.37,-0.37,-0.37,-0.37,-0.37,-0.37,-0.37,-0.37,-0.37,-0.37,2.26(T,T,T,T,T,T,T,T,T,T,T)",0.0326(T),0.186,1.236012,5.09,5.09,-0.320000,1.154000,1.522000,0.907000,0.796000,1.000000,12.0908
synonymous_variant,TIAM2,SILENT,NM_012454.3:p.Ala1558Ala/c.4674C>T,gcC/gcT,LOW,COSM3761616(1),0.748403,0.9851,rs1571766,,,,,,chr6,155577823,155577823,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala483Ala/c.1449C>T|626|TIAM2|protein_coding|CODING|NM_001010927.2|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1558Ala/c.4674C>T|1701|TIAM2|protein_coding|CODING|NM_012454.3|26|1),3_prime_UTR_variant(MODIFIER||1147|c.*1147G>A|346|TFB1M|protein_coding|CODING|NM_016020.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7004,0.7522,0.5954,0.63,0.71,0.59,,,,,,,,,,,,,,,,
synonymous_variant,CLDN20,SILENT,NM_001001346.3:p.Ser16Ser/c.48T>C,tcT/tcC,LOW,COSM3761618(1),0.743011,0.9851,rs927718,,,,,,chr6,155596901,155596901,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser16Ser/c.48T>C|219|CLDN20|protein_coding|CODING|NM_001001346.3|2|1),intron_variant(MODIFIER|||c.666+9391A>G|346|TFB1M|protein_coding|CODING|NM_016020.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7004,0.7522,0.5984,0.63,0.68,0.60,,,,,,,,,,,,,,,,
synonymous_variant,TFB1M,SILENT,NM_016020.3:p.Thr211Thr/c.633G>A,acG/acA,LOW,COSM3761619(1),0.671925,0.8333,rs324356,,,,,,chr6,155606325,155606325,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr211Thr/c.633G>A|346|TFB1M|protein_coding|CODING|NM_016020.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6043,0.7104,0.5328,0.55,0.66,0.50,,,,,,,,,,,,,,,,
synonymous_variant,NOX3,SILENT,NM_015718.2:p.Glu346Glu/c.1038G>A,gaG/gaA,LOW,COSM3761620(2),0.737819,0.9137,rs231954,,,,,,chr6,155750035,155750035,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu346Glu/c.1038G>A|568|NOX3|protein_coding|CODING|NM_015718.2|9|1),,,,,0.7863,0.6297,0.5666,0.61,0.72,0.55,,,,,,,,,,,,,,,,
synonymous_variant,NOX3,SILENT,NM_015718.2:p.Pro90Pro/c.270G>A,ccG/ccA,LOW,,0.127396,0.1121,rs34960420,,,,,,chr6,155774608,155774608,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro90Pro/c.270G>A|568|NOX3|protein_coding|CODING|NM_015718.2|4|1),,,,,0.1237,0.2291,0.1044,0.11,0.11,0.11,,,,,,,,,,,,,,,,
synonymous_variant,NOX3,SILENT,NM_015718.2:p.Arg74Arg/c.220C>A,Cga/Aga,LOW,,0.128594,0.1171,rs12195525,,,,,,chr6,155775980,155775980,G,T,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg74Arg/c.220C>A|568|NOX3|protein_coding|CODING|NM_015718.2|3|1),,,,,0.1237,0.2291,0.1044,0.11,0.11,0.11,,,,,,,,,,,,,,,,
synonymous_variant,ARID1B,SILENT,NM_020732.3:p.Ala724Ala/c.2172G>A,gcG/gcA,LOW,COSM450794(2),0.495208,0.5734,rs3734441,,,,,,chr6,157405930,157405930,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala711Ala/c.2133G>A|2236|ARID1B|protein_coding|CODING|NM_017519.2|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala724Ala/c.2172G>A|2249|ARID1B|protein_coding|CODING|NM_020732.3|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000114263.1,,0.5828,0.6254,0.5239,0.47,0.34,0.54,,,,,,,,,,,,,,,,
synonymous_variant,SNX9,SILENT,NM_016224.4:p.Gly50Gly/c.150G>C,ggG/ggC,LOW,COSM4003768(1),0.0798722,0.131,rs9355424,,,,,,chr6,158294184,158294184,G,C,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly50Gly/c.150G>C|595|SNX9|protein_coding|CODING|NM_016224.4|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1053,0.0562,0.0596,0.05,0.04,0.05,,,,,,,,,,,,,,,,
synonymous_variant,SNX9,SILENT,NM_016224.4:p.Arg258Arg/c.774G>A,agG/agA,LOW,COSM3761621(2),0.205272,0.1369,rs3211067,,,,,,chr6,158330765,158330765,G,A,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg258Arg/c.774G>A|595|SNX9|protein_coding|CODING|NM_016224.4|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2536,0.1383,0.2485,0.23,0.22,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SYNJ2,SILENT,NM_003898.3:p.Gly1030Gly/c.3090A>G,ggA/ggG,LOW,COSM1131993(1),0.794129,0.5933,rs1744173,,,,,,chr6,158505088,158505088,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly793Gly/c.2379A>G|1259|SYNJ2|protein_coding|CODING|NM_001178088.1|21|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1030Gly/c.3090A>G|1496|SYNJ2|protein_coding|CODING|NM_003898.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8303,0.5865,0.8539,0.89,0.96,0.86,,,,,,,,,,,,,,,,
synonymous_variant,SYNJ2,SILENT,NM_003898.3:p.Gly1134Gly/c.3402A>G,ggA/ggG,LOW,,0.804113,0.6052,rs350289,,,,,,chr6,158509750,158509750,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly897Gly/c.2691A>G|1259|SYNJ2|protein_coding|CODING|NM_001178088.1|23|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1134Gly/c.3402A>G|1496|SYNJ2|protein_coding|CODING|NM_003898.3|24|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8538,0.5908,0.8718,0.91,0.96,0.88,,,,,,,,,,,,,,,,
synonymous_variant,SERAC1,SILENT,NM_032861.3:p.Asp83Asp/c.249C>T,gaC/gaT,LOW,,0.713858,0.7262,rs6929274,,,,,,chr6,158571501,158571501,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp83Asp/c.249C>T|654|SERAC1|protein_coding|CODING|NM_032861.3|4|1),non_coding_exon_variant(MODIFIER|||n.391C>T||SERAC1||CODING|NR_073096.1|4|1)",HepG2:H3K36me3,,,,0.6544,0.8242,0.6948,0.71,0.71,0.70,,,,,,,,,,,,,,,,
synonymous_variant,TULP4,SILENT,NM_020245.4:p.Ser13Ser/c.39C>T,agC/agT,LOW,,0.865216,0.9038,rs9364951,,,,,,chr6,158735087,158735087,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser13Ser/c.39C>T|678|TULP4|protein_coding|CODING|NM_001007466.2|1|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser13Ser/c.39C>T|1543|TULP4|protein_coding|CODING|NM_020245.4|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.9346,0.9063,0.9155,0.85,0.74,0.90,,,,,,,,,,,,,,,,
synonymous_variant,TULP4,SILENT,NM_020245.4:p.Asp14Asp/c.42T>C,gaT/gaC,LOW,,0.866813,0.9048,rs7756620,,,,,,chr6,158735090,158735090,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp14Asp/c.42T>C|678|TULP4|protein_coding|CODING|NM_001007466.2|1|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp14Asp/c.42T>C|1543|TULP4|protein_coding|CODING|NM_020245.4|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.9346,0.9063,0.9155,0.85,0.75,0.90,,,,,,,,,,,,,,,,
synonymous_variant,TULP4,SILENT,NM_020245.4:p.Thr913Thr/c.2739G>C,acG/acC,LOW,COSM4160329(1),0.827077,0.8869,rs9364968,,,,,,chr6,158923434,158923434,G,C,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr913Thr/c.2739G>C|1543|TULP4|protein_coding|CODING|NM_020245.4|13|1),intron_variant(MODIFIER|||c.2014+3590G>C|678|TULP4|protein_coding|CODING|NM_001007466.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8436,0.8934,0.7525,0.78,0.81,0.76,,,,,,,,,,,,,,,,
synonymous_variant,TULP4,SILENT,NM_020245.4:p.Asp1131Asp/c.3393T>C,gaT/gaC,LOW,,0.9998,1,rs914690,,,,,,chr6,158924088,158924088,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1131Asp/c.3393T>C|1543|TULP4|protein_coding|CODING|NM_020245.4|13|1),intron_variant(MODIFIER|||c.2015-3522T>C|678|TULP4|protein_coding|CODING|NM_001007466.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TULP4,SILENT,NM_020245.4:p.Gln1300Gln/c.3900A>G,caA/caG,LOW,COSM3761624(2),0.144968,0.1389,rs3749853,,,,,,chr6,158924595,158924595,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1300Gln/c.3900A>G|1543|TULP4|protein_coding|CODING|NM_020245.4|13|1),intron_variant(MODIFIER|||c.2015-3015A>G|678|TULP4|protein_coding|CODING|NM_001007466.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1053,0.1037,0.1889,0.18,0.16,0.20,,,,,,,,,,,,,,,,
missense_variant,SYTL3,MISSENSE,NM_001242384.1:p.Pro414Ser/c.1240C>T,Cct/Tct,MODERATE,COSM3761626(1),0.449081,0.7361,rs901363,0.43(T),"0.332,0.288,0.395(B,B,B)",2.28(M),-1.0011(T),,chr6,159178345,159178345,C,T,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro346Ser/c.1036C>T|542|SYTL3|protein_coding|CODING|NM_001009991.3|13|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro414Ser/c.1240C>T|610|SYTL3|protein_coding|CODING|NM_001242384.1|15|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro414Ser/c.1240C>T|610|SYTL3|protein_coding|CODING|NM_001242394.1|14|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro346Ser/c.1036C>T|542|SYTL3|protein_coding|CODING|NM_001242395.1|12|1)","GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.407,0.598,0.328,0.32,0.28,0.34,,0.000000(D),0.000(P),"3.1,3.1,3.1(T,T,T)",0.0168(T),0.34,3.572424,5.07,5.07,0.491000,2.356000,2.629000,0.951000,0.980000,0.999000,12.8384
synonymous_variant,SYTL3,SILENT,NM_001242384.1:p.Ser548Ser/c.1644A>G,tcA/tcG,LOW,COSM4003770(1),0.649361,0.247,rs2291387,,,,,,chr6,159184462,159184462,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser480Ser/c.1440A>G|542|SYTL3|protein_coding|CODING|NM_001009991.3|16|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser548Ser/c.1644A>G|610|SYTL3|protein_coding|CODING|NM_001242384.1|18|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser548Ser/c.1644A>G|610|SYTL3|protein_coding|CODING|NM_001242394.1|17|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser480Ser/c.1440A>G|542|SYTL3|protein_coding|CODING|NM_001242395.1|15|1),downstream_gene_variant(MODIFIER||1231|||MIR3918||NON_CODING|NR_037482.1||1)","NHEK:PolII,CD4:DNase1,CD4:HDAC6,K562:H3K4me1,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.6718,0.4683,0.7863,0.83,0.91,0.79,,,,,,,,,,,,,,,,
synonymous_variant,SYTL3,SILENT,NM_001242384.1:p.Asn563Asn/c.1689C>T,aaC/aaT,LOW,,0.109225,0.0268,rs2291386,,,,,,chr6,159184507,159184507,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn495Asn/c.1485C>T|542|SYTL3|protein_coding|CODING|NM_001009991.3|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn563Asn/c.1689C>T|610|SYTL3|protein_coding|CODING|NM_001242384.1|18|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn563Asn/c.1689C>T|610|SYTL3|protein_coding|CODING|NM_001242394.1|17|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn495Asn/c.1485C>T|542|SYTL3|protein_coding|CODING|NM_001242395.1|15|1),downstream_gene_variant(MODIFIER||1186|||MIR3918||NON_CODING|NR_037482.1||1)","CD4:HDAC6,K562:H3K4me1,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.0389,0.0346,0.0427,0.11,0.25,0.05,,,,,,,,,,,,,,,,
missense_variant,SYTL3,MISSENSE,NM_001242384.1:p.Leu587Gln/c.1760T>A,cTa/cAa,MODERATE,,0.539537,0.2143,rs3123101,0.57(T),"0.0,0.0,0.0(B,B,B)",-1.04(N),-1.0299(T),,chr6,159185563,159185563,T,A,het,"missense_variant(MODERATE|MISSENSE|cTa/cAa|p.Leu519Gln/c.1556T>A|542|SYTL3|protein_coding|CODING|NM_001009991.3|17|1),missense_variant(MODERATE|MISSENSE|cTa/cAa|p.Leu587Gln/c.1760T>A|610|SYTL3|protein_coding|CODING|NM_001242384.1|19|1),missense_variant(MODERATE|MISSENSE|cTa/cAa|p.Leu587Gln/c.1760T>A|610|SYTL3|protein_coding|CODING|NM_001242394.1|18|1),missense_variant(MODERATE|MISSENSE|cTa/cAa|p.Leu519Gln/c.1556T>A|542|SYTL3|protein_coding|CODING|NM_001242395.1|16|1),downstream_gene_variant(MODIFIER||130|||MIR3918||NON_CODING|NR_037482.1||1),downstream_gene_variant(MODIFIER||1210||586|EZR|protein_coding|CODING|NM_001111077.1||1),downstream_gene_variant(MODIFIER||1210||586|EZR|protein_coding|CODING|NM_003379.4||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.6278,0.4352,0.7386,0.72,0.68,0.74,,0.029078(N),1.000(P),"2.25,2.26,0.02(T,T,T)",0.0235(T),0.193,0.294611,4.36,3.22,-0.257000,0.292000,0.852000,0.004000,0.000000,0.007000,5.8849
missense_variant,FNDC1,MISSENSE,NM_032532.2:p.Ser36Pro/c.106T>C,Tca/Cca,MODERATE,,0.550919,0.628,rs295332,0.35(T),0.0(B),0(N),-0.9020(T),,chr6,159590734,159590734,T,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser36Pro/c.106T>C|1894|FNDC1|protein_coding|CODING|NM_032532.2|1|1),intron_variant(MODIFIER|||n.196+110A>G||LOC101929122||NON_CODING|NR_121668.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:DNase1",,,,0.5542,0.6484,0.4682,,,,,,1.000(P),"3.23,3.99(T,T)",0.0032(T),0.025,1.367509,3.66,0.776,-1.302000,-0.222000,1.092000,0.415000,0.980000,1.000000,3.2261
missense_variant,FNDC1,MISSENSE,NM_032532.2:p.Glu463Gln/c.1387G>C,Gag/Cag,MODERATE,COSM450819(2),0.784545,0.621,rs420137,0.64(T),"0.0,0.001(B,B)",-1.39(N),-0.9666(T),,chr6,159652931,159652931,G,C,hom,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu463Gln/c.1387G>C|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8661,0.8646,0.9076,0.85,0.76,0.90,,0.913867(N),1.000(P),"3.27,4.12(T,T)",0.0107(T),0.064,-0.791770,5.59,2.79,-0.120000,0.301000,-0.110000,0.014000,0.000000,0.000000,11.5656
synonymous_variant,FNDC1,SILENT,NM_032532.2:p.Ala697Ala/c.2091C>G,gcC/gcG,LOW,COSM4160337(1),0.493411,0.2768,rs381639,,,,-1.0987(T),,chr6,159653635,159653635,C,G,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala697Ala/c.2091C>G|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5838,0.6542,0.7724,0.64,0.37,0.77,,,1.000(P),,0.0096(T),.,0.220096,4.73,-9.46,-0.736000,-4.965000,-1.864000,0.004000,0.000000,0.000000,1.5451
synonymous_variant,FNDC1,SILENT,NM_032532.2:p.Pro981Pro/c.2943G>T,ccG/ccT,LOW,,0.786542,0.626,rs404435,,,,-1.0424(T),,chr6,159654487,159654487,G,T,hom,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro981Pro/c.2943G>T|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8681,0.8646,0.9085,0.85,0.76,0.90,,,1.000(P),,0.0139(T),.,0.219485,3.83,-7.65,-1.681000,-2.425000,-1.283000,0.014000,0.001000,0.000000,3.1124
missense_variant,FNDC1,MISSENSE,NM_032532.2:p.Gln1003Glu/c.3007C>G,Caa/Gaa,MODERATE,COSM3761627(1),0.785743,0.626,rs370434,1(T),"0.0,0.0(B,B)",-0.46(N),-1.0217(T),,chr6,159654551,159654551,C,G,hom,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1003Glu/c.3007C>G|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8681,0.8646,0.9085,0.85,0.76,0.90,,0.010024(N),1.000(P),"3.4,4.28(T,T)",0.0256(T),0.194,-0.850553,4.65,1.71,-0.225000,-0.211000,0.203000,0.006000,0.000000,0.000000,14.3724
synonymous_variant,FNDC1,SILENT,NM_032532.2:p.Val1150Val/c.3450A>C,gtA/gtC,LOW,COSM4160338(2),0.786342,0.627,rs402388,,,,-1.0209(T),,chr6,159654994,159654994,A,C,hom,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val1150Val/c.3450A>C|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"NHEK:CTCF,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.8681,0.8646,0.9085,0.85,0.76,0.89,,,1.000(P),,0.0301(T),.,0.393463,4.56,1.16,-1.412000,0.050000,-0.155000,0.007000,0.013000,0.030000,2.6507
missense_variant,FNDC1,MISSENSE,NM_032532.2:p.Asp1180Glu/c.3540C>G,gaC/gaG,MODERATE,COSM4160339(2),0.782348,0.626,rs420054,1(T),"0.001,0.002(B,B)",-0.345(N),-0.9928(T),,chr6,159655084,159655084,C,G,hom,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1180Glu/c.3540C>G|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8558,0.8602,0.9085,0.85,0.76,0.90,,0.116843(N),1.000(P),"3.1,3.87(T,T)",0.0181(T),0.133,-0.236916,4.78,2.74,-0.215000,0.444000,-0.066000,0.177000,0.989000,0.996000,8.4586
synonymous_variant,FNDC1,SILENT,NM_032532.2:p.Gly1186Gly/c.3558A>G,ggA/ggG,LOW,COSM4160340(2),0.786142,0.626,rs436743,,,,-1.0741(T),,chr6,159655102,159655102,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1186Gly/c.3558A>G|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8681,0.8646,0.9085,0.85,0.76,0.90,,,1.000(P),,0.0253(T),.,0.669054,4.85,-9.7,-1.095000,-2.736000,-1.045000,0.083000,0.000000,0.000000,9.2657
missense_variant,FNDC1,MISSENSE,NM_032532.2:p.Leu1261Pro/c.3782T>C,cTg/cCg,MODERATE,COSM3749959(3),0.786142,0.626,rs3003174,0.23(T),"0.0,0.0(B,B)",0(N),-0.9588(T),,chr6,159655326,159655326,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1261Pro/c.3782T>C|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8681,0.8646,0.9085,0.85,0.76,0.90,,0.097935(N),1.000(P),"3.09,3.91(T,T)",0.0040(T),0.366,1.393556,4.66,-5.97,-2.189000,-1.386000,-1.111000,0.061000,0.000000,0.000000,10.1175
missense_variant,FNDC1,MISSENSE,NM_032532.2:p.Gln1280Arg/c.3839A>G,cAg/cGg,MODERATE,COSM4003774(2),0.786142,0.626,rs2501176,1(T),"0.0,0.001(B,B)",-0.895(N),-0.9138(T),,chr6,159655383,159655383,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1280Arg/c.3839A>G|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8681,0.8646,0.9085,0.85,0.76,0.90,,0.631051(N),1.000(P),"3.32,4.14(T,T)",0.0015(T),0.067,-0.433606,4.91,-3.37,-0.722000,-0.900000,-0.277000,0.001000,0.004000,0.000000,7.8677
synonymous_variant,FNDC1,SILENT,NM_032532.2:p.Pro1286Pro/c.3858A>G,ccA/ccG,LOW,,0.785942,0.626,rs2932988,,,,-1.0413(T),,chr6,159655402,159655402,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1286Pro/c.3858A>G|1894|FNDC1|protein_coding|CODING|NM_032532.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8681,0.8631,0.9085,0.85,0.76,0.90,,,1.000(P),,0.0077(T),.,0.617623,5.56,-11.1,-1.851000,-3.089000,-1.194000,0.011000,0.000000,0.000000,1.1878
missense_variant,FNDC1,MISSENSE,NM_032532.2:p.Thr1504Lys/c.4511C>A,aCa/aAa,MODERATE,COSM4160341(1),0.784944,0.625,rs386360,,,0.895(L),-0.9545(T),,chr6,159660879,159660879,C,A,hom,missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr1504Lys/c.4511C>A|1894|FNDC1|protein_coding|CODING|NM_032532.2|14|1),"GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8671,0.8646,0.9085,0.87,0.79,0.91,,,1.000(P),,0.0053(T),.,-0.649710,5.06,3.86,-0.256000,0.249000,2.328000,0.865000,0.008000,1.000000,6.5864
synonymous_variant,FNDC1,SILENT,NM_032532.2:p.Thr1550Thr/c.4650T>G,acT/acG,LOW,COSM3761628(1),0.160343,0.0982,rs294911,,,,-1.0250(T),,chr6,159667961,159667961,T,G,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr1550Thr/c.4650T>G|1894|FNDC1|protein_coding|CODING|NM_032532.2|15|1),"GM12878:H3K27me3,HepG2:H3K27me3",,,,0.1994,0.317,0.2396,0.18,0.07,0.24,,,1.000(P),,0.0087(T),.,-0.035489,5.12,-10.2,-1.433000,-1.951000,-1.140000,0.022000,0.000000,0.000000,1.6692
synonymous_variant,FNDC1,SILENT,NM_032532.2:p.Asp1652Asp/c.4956C>T,gaC/gaT,LOW,,0.450479,0.3036,rs294899,,,,-1.0425(T),,chr6,159672455,159672455,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1652Asp/c.4956C>T|1894|FNDC1|protein_coding|CODING|NM_032532.2|17|1),HepG2:H3K27me3,,,,0.5593,0.6297,0.7087,0.56,0.29,0.70,,,1.000(P),,0.0455(T),.,0.511325,5.51,-0.76,0.585000,-0.055000,-0.658000,0.940000,0.053000,0.002000,6.4635
missense_variant,SOD2,MISSENSE,NM_000636.2:p.Val16Ala/c.47T>C,gTt/gCt,MODERATE,COSM3761629(1),0.410743,0.125,rs386596107,0.73(T),"0.0,0.014,0.001(B,B,B)",,-0.9308(T),,chr6,160113872,160113872,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val16Ala/c.47T>C|222|SOD2|protein_coding|CODING|NM_000636.2|2|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val16Ala/c.47T>C|222|SOD2|protein_coding|CODING|NM_001024465.1|2|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val16Ala/c.47T>C|183|SOD2|protein_coding|CODING|NM_001024466.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,RCV000015872.1|RCV000015873.1,,0.5082,0.5836,0.4662,0.47,0.42,0.50,,0.003125(N),0.812(P),"2.8,2.8,2.79,2.78,2.79,2.75,2.77,2.24(T,T,T,T,T,T,T,T)",0.0077(T),0.209,1.174329,4.9,3.08,-0.239000,0.205000,2.565000,0.187000,0.002000,0.801000,9.0625
synonymous_variant,WTAP,SILENT,NM_001270531.1:p.Pro103Pro/c.309G>T,ccG/ccT,LOW,,0.260383,0.4256,rs7766006,,,,,,chr6,160169258,160169258,G,T,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro103Pro/c.309G>T|396|WTAP|protein_coding|CODING|NM_001270531.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro103Pro/c.309G>T|170|WTAP|protein_coding|CODING|NM_001270532.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro103Pro/c.309G>T|170|WTAP|protein_coding|CODING|NM_001270533.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro103Pro/c.309G>T|396|WTAP|protein_coding|CODING|NM_004906.4|6|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro103Pro/c.309G>T|151|WTAP|protein_coding|CODING|NM_152857.2|6|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro103Pro/c.309G>T|151|WTAP|protein_coding|CODING|NM_152858.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2894,0.2161,0.2097,0.18,0.19,0.17,,,,,,,,,,,,,,,,
missense_variant,ACAT2,MISSENSE,NM_005891.2:p.Lys211Arg/c.632A>G,aAa/aGa,MODERATE,COSM4003778(1),0.365216,0.1637,rs25683,0.05(D),"0.621,0.621(P,P)",1.68(L),0.4328(D),,chr6,160196343,160196343,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys211Arg/c.632A>G|397|ACAT2|protein_coding|CODING|NM_005891.2|5|1),splice_region_variant(LOW|||c.632A>G|397|ACAT2|protein_coding|CODING|NM_005891.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4898,0.5965,0.5457,0.45,0.22,0.57,,0.000000(D),0.000(P),"-2.84,-2.84(D,D)",0.6574(D),0.118,4.986498,5.65,5.65,0.460000,2.166000,8.691000,0.981000,1.000000,1.000000,15.8801
synonymous_variant,ACAT2,SILENT,NM_005891.2:p.Val261Val/c.783C>T,gtC/gtT,LOW,,0.261182,0.4266,rs3464,,,,,,chr6,160198359,160198359,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val261Val/c.783C>T|397|ACAT2|protein_coding|CODING|NM_005891.2|7|1),downstream_gene_variant(MODIFIER||1171||401|TCP1|protein_coding|CODING|NM_001008897.1||1),downstream_gene_variant(MODIFIER||1171||556|TCP1|protein_coding|CODING|NM_030752.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.2161,0.2127,0.18,0.19,0.17,,,,,,,,,,,,,,,,
missense_variant,MRPL18,MISSENSE,NM_014161.3:p.Arg6Gln/c.17G>A,cGg/cAg,MODERATE,COSM1567946(1),0.664936,0.5873,rs1128670,0.06(T),0.005(B),2.075(M),-1.0063(T),,chr6,160211636,160211636,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg6Gln/c.17G>A|180|MRPL18|protein_coding|CODING|NM_014161.3|1|1),upstream_gene_variant(MODIFIER||901||401|TCP1|protein_coding|CODING|NM_001008897.1||1),upstream_gene_variant(MODIFIER||901||556|TCP1|protein_coding|CODING|NM_030752.2||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.7812,0.8285,0.7575,0.67,0.52,0.75,,0.022593(N),1.000(P),0.81(T),0.0698(T),0.122,2.452584,5.32,4.46,-0.140000,1.482000,1.266000,0.127000,0.193000,0.116000,9.8104
synonymous_variant,PNLDC1,SILENT,NM_001271862.1:p.Ser88Ser/c.264T>G,tcT/tcG,LOW,COSM4003779(1),0.3752,0.1627,rs35435543,,,,,,chr6,160225012,160225012,T,G,het,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser88Ser/c.264T>G|531|PNLDC1|protein_coding|CODING|NM_001271862.1|5|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser77Ser/c.231T>G|520|PNLDC1|protein_coding|CODING|NM_173516.2|5|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.4928,0.5865,0.5109,0.45,0.27,0.55,,,,,,,,,,,,,,,,
synonymous_variant,MAS1,SILENT,NM_002377.2:p.Val211Val/c.633C>T,gtC/gtT,LOW,COSM3761631(1),0.339856,0.6677,rs220721,,,,,,chr6,160328620,160328620,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val211Val/c.633C>T|325|MAS1|protein_coding|CODING|NM_002377.2|1|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1677,0.3429,0.2386,0.24,0.29,0.22,,,,,,,,,,,,,,,,
synonymous_variant,IGF2R,SILENT,NM_000876.2:p.Ser350Ser/c.1050A>G,tcA/tcG,LOW,COSM4160343(1),0.423922,0.746,rs1570070,,,,,,chr6,160453978,160453978,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser350Ser/c.1050A>G|2491|IGF2R|protein_coding|CODING|NM_000876.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4663,0.3545,0.3489,0.30,0.26,0.32,,,,,,,,,,,,,,,,
synonymous_variant,IGF2R,SILENT,NM_000876.2:p.Gly530Gly/c.1590G>A,ggG/ggA,LOW,,0.423722,0.748,rs894817,,,,,,chr6,160464289,160464289,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly530Gly/c.1590G>A|2491|IGF2R|protein_coding|CODING|NM_000876.2|12|1),"HepG2:RXRA,NHEK:H3K27ac,H1ESC:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:HNF4A,HepG2:FOXA2,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:FOXA1,HepG2:DNase1,HMEC:DNase1,GM06990:H3K36me3",,,,0.4458,0.3516,0.3181,0.30,0.28,0.31,,,,,,,,,,,,,,,,
synonymous_variant,IGF2R,SILENT,NM_000876.2:p.Thr713Thr/c.2139A>G,acA/acG,LOW,,0.577476,0.6925,rs998075,,,,,,chr6,160468278,160468278,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr713Thr/c.2139A>G|2491|IGF2R|protein_coding|CODING|NM_000876.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.4899,0.4841,0.52,0.61,0.47,,,,,,,,,,,,,,,,
missense_variant,IGF2R,MISSENSE,NM_000876.2:p.Arg1619Gly/c.4855A>G,Agg/Ggg,MODERATE,,0.903155,0.8423,rs629849,1(T),0.0(B),-1.315(N),-0.9447(T),,chr6,160494409,160494409,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg1619Gly/c.4855A>G|2491|IGF2R|protein_coding|CODING|NM_000876.2|34|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8742,0.9164,0.8638,0.91,0.97,0.88,,0.033422(N),1.000(P),4.55(T),0.0008(T),0.113,-1.700702,5.3,4.43,-0.215000,0.752000,1.982000,0.095000,0.941000,0.896000,12.1725
synonymous_variant,IGF2R,SILENT,NM_000876.2:p.Leu2017Leu/c.6051C>G,ctC/ctG,LOW,,0.996006,1,rs614754,,,,,,chr6,160505199,160505199,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu2017Leu/c.6051C>G|2491|IGF2R|protein_coding|CODING|NM_000876.2|40|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,0.9841,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,IGF2R,MISSENSE,NM_000876.2:p.Asn2020Ser/c.6059A>G,aAc/aGc,MODERATE,,0.122604,0.3363,rs1805075,0.53(T),0.003(B),0.66(N),-1.0181(T),,chr6,160505207,160505207,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn2020Ser/c.6059A>G|2491|IGF2R|protein_coding|CODING|NM_000876.2|40|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.1628,0.0408,0.03,0.01,0.04,,0.879162(N),1.000(P),1.53(T),0.0210(T),0.003,0.319869,5.55,4.39,0.533000,1.117000,3.786000,0.006000,0.001000,0.189000,11.3689
synonymous_variant,IGF2R,SILENT,NM_000876.2:p.Leu2222Leu/c.6666C>T,ctC/ctT,LOW,,0.229433,0.4216,rs1803989,,,,,,chr6,160517481,160517481,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu2222Leu/c.6666C>T|2491|IGF2R|protein_coding|CODING|NM_000876.2|45|1),downstream_gene_variant(MODIFIER||237|||LOC729603||NON_CODING|NR_003288.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.2017,0.0547,0.12,0.23,0.06,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A1,SILENT,NM_003057.2:p.Ser52Ser/c.156T>C,agT/agC,LOW,COSM3723560(3),0.28115,0.3909,rs1867351,,,,,,chr6,160543123,160543123,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser52Ser/c.156T>C|554|SLC22A1|protein_coding|CODING|NM_003057.2|1|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser52Ser/c.156T>C|506|SLC22A1|protein_coding|CODING|NM_153187.1|1|1)","IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2014,0.2882,0.1849,0.23,0.30,0.20,,,,,,,,,,,,,,,,
missense_variant,SLC22A1,MISSENSE,NM_003057.2:p.Leu160Phe/c.480G>C,ttG/ttC,MODERATE,,0.876198,0.8542,rs386423174,0.68(T),"0.003,0.047(B,B)",0.015(N),-1.0895(T),,chr6,160551204,160551204,G,C,hom,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu160Phe/c.480G>C|554|SLC22A1|protein_coding|CODING|NM_003057.2|2|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu160Phe/c.480G>C|506|SLC22A1|protein_coding|CODING|NM_153187.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.8282,0.8919,0.7853,0.84,0.95,0.78,,0.014763(N),0.990(P),"-0.92,-0.92,-0.92(T,T,T)",0.0619(T),0.052,-2.587930,3.56,1.51,-2.582000,0.228000,0.207000,0.001000,0.869000,0.026000,5.7175
missense_variant,SLC22A1,MISSENSE,NM_003057.2:p.Met408Val/c.1222A>G,Atg/Gtg,MODERATE,,0.6877,0.7411,rs628031,0.84(T),"0.001,0.0(B,B)",-1.365(N),-1.0972(T),,chr6,160560845,160560845,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met408Val/c.1222A>G|554|SLC22A1|protein_coding|CODING|NM_003057.2|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met408Val/c.1222A>G|506|SLC22A1|protein_coding|CODING|NM_153187.1|7|1)","IMR90:DNase1,NH-A:DNase1,NHEK:H3K36me3,NHEK:DNase1",,,,0.6104,0.7839,0.5865,0.64,0.73,0.59,,0.552535(N),1.000(P),"-0.71,0.48,0.48(T,T,T)",0.0176(T),0.024,-1.406937,5.08,-9.1,-0.994000,-2.233000,-2.590000,0.019000,0.000000,0.000000,1.367
missense_variant,SLC22A1,MISSENSE,NM_153187.1:p.Val464Ile/c.1390G>A,Gtt/Att,MODERATE,,0.0626997,0,rs41267797,0.15(T),0.016(B),,-1.0439(T),,chr6,160577011,160577011,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val464Ile/c.1390G>A|506|SLC22A1|protein_coding|CODING|NM_153187.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val501Val/c.1503G>A|554|SLC22A1|protein_coding|CODING|NM_003057.2|10|1)",NHEK:H3K36me3,,,,0.0112,0.0389,0.0179,0.06,0.15,0.02,,0.929472(N),1.000(P),0.28(T),0.0382(T),.,1.231707,4.53,-4.5,0.655000,-1.415000,-0.525000,0.053000,0.002000,0.000000,1.8349
synonymous_variant,SLC22A2,SILENT,NM_003058.3:p.Val502Val/c.1506G>A,gtG/gtA,LOW,COSM4003780(1),0.693091,0.7966,rs316003,,,,,,chr6,160645832,160645832,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val502Val/c.1506G>A|555|SLC22A2|protein_coding|CODING|NM_003058.3|10|1),,,,,0.772,0.8386,0.7654,0.67,0.48,0.77,,,,,,,,,,,,,,,,
missense_variant,SLC22A2,MISSENSE,NM_003058.3:p.Ser270Ala/c.808T>G,Tct/Gct,MODERATE,,0.86262,0.8641,rs316019,0.1(T),"0.37,0.358(B,B)",2.13(M),-1.0081(T),,chr6,160670282,160670282,A,C,hom,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser270Ala/c.808T>G|555|SLC22A2|protein_coding|CODING|NM_003058.3|4|1),,,,,0.8661,0.9078,0.8897,0.88,0.85,0.89,,0.000537(N),1.000(P),"0.67,0.67(T,T)",0.0793(T),0.071,1.256675,5.31,-2.29,-2.734000,-0.415000,2.353000,0.052000,0.000000,0.999000,8.4237
synonymous_variant,SLC22A3,SILENT,NM_021977.3:p.Arg120Arg/c.360C>T,cgC/cgT,LOW,COSM3749960(11),0.43151,0.2857,rs668871,,,,,,chr6,160769811,160769811,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg120Arg/c.360C>T|556|SLC22A3|protein_coding|CODING|NM_021977.3|1|1),"NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,HeLa-S3:PolII,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K9ac,NHEK:H3K4me2,HSMM:H3K27me3,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,H1ESC:CTCF",,,,0.3558,0.4424,0.4742,0.57,0.63,0.55,,,,,,,,,,,,,,,,
missense_variant,LPA,MISSENSE,NM_005577.2:p.Met1679Thr/c.5036T>C,aTg/aCg,MODERATE,COSM4003781(1),0.648163,0.4494,rs1801693,1(T),0.051(B),-1.625(N),-0.9825(T),,chr6,160969629,160969629,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1679Thr/c.5036T>C|2040|LPA|protein_coding|CODING|NM_005577.2|32|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5399,0.5533,0.7038,0.75,0.87,0.69,,,1.000(P),"-0.08,-0.08(T,T)",0.0178(T),0.019,-3.714428,2.7,0.732,-2.905000,-0.620000,1.344000,0.006000,0.151000,0.943000,10.7602
splice_donor_variant,LPA,protein_coding,NM_005577.2:c.4290G>A,,HIGH,,0.0233626,0,rs41272114,,,,,LPA:1.00(1);,chr6,161006077,161006077,C,T,het,"splice_donor_variant(HIGH|||c.4290G>A|2040|LPA|protein_coding|CODING|NM_005577.2|27|1),intron_variant(MODIFIER|||c.4289+1G>A|2040|LPA|protein_coding|CODING|NM_005577.2|27|1)",,,,,0.0297,0.0778,0.0308,0.03,0.01,0.03,,,1.000(D),,,.,0.407180,2.56,2.56,0.436000,1.415000,2.676000,0.044000,0.971000,1.000000,8.6141
missense_variant,LPA,MISSENSE,NM_005577.2:p.Thr1399Pro/c.4195A>C,Aca/Cca,MODERATE,,0.0595048,0,rs41272110,0.05(D),0.991(D),2.25(M),-0.6388(T),,chr6,161006172,161006172,T,G,het,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr1399Pro/c.4195A>C|2040|LPA|protein_coding|CODING|NM_005577.2|27|1),,,,,0.0736,0.0951,0.1491,0.11,0.03,0.15,,,1.000(P),"-0.17,-0.17(T,T)",0.2688(T),0.204,0.935731,2.41,2.41,0.358000,1.087000,4.669000,0.007000,0.050000,0.668000,6.6034
missense_variant,LPA,MISSENSE,NM_005577.2:p.Leu1372Val/c.4114C>G,Ctt/Gtt,MODERATE,,0.414936,0.4107,rs7765781,0.59(T),0.008(B),-0.895(N),-1.0791(T),,chr6,161007496,161007496,G,C,het,missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu1372Val/c.4114C>G|2040|LPA|protein_coding|CODING|NM_005577.2|26|1),,,,,0.3241,0.268,0.3648,0.41,0.56,0.34,,,1.000(P),"-2.19,-2.19(D,D)",0.0912(T),0.014,-2.485890,2.39,-2.21,-0.444000,-0.967000,-1.349000,0.010000,0.000000,0.000000,4.4369
missense_variant,LPA,MISSENSE,NM_005577.2:p.Leu1358Val/c.4072C>G,Ctc/Gtc,MODERATE,,0.409145,0.4107,rs7765803,1(T),0.019(B),-2.015(N),-1.0361(T),,chr6,161007538,161007538,G,C,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu1358Val/c.4072C>G|2040|LPA|protein_coding|CODING|NM_005577.2|26|1),,,,,0.3262,0.268,0.3648,0.41,0.53,0.34,,,1.000(P),"0.06,0.06(T,T)",0.0114(T),0.017,-2.377643,2.04,-2.6,-0.980000,-0.794000,-1.546000,0.005000,0.000000,0.000000,6.4809
synonymous_variant,PLG,SILENT,NM_000301.3:p.Cys257Cys/c.771T>C,tgT/tgC,LOW,,0.44988,0.4563,rs14224,,,,,,chr6,161137779,161137779,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys257Cys/c.771T>C|810|PLG|protein_coding|CODING|NM_000301.3|7|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.4397,0.3329,0.3976,0.45,0.52,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PLG,SILENT,NM_000301.3:p.Phe314Phe/c.942C>T,ttC/ttT,LOW,COSM1131985(1),0.34984,0.4554,rs1130656,,,,,,chr6,161139480,161139480,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe314Phe/c.942C>T|810|PLG|protein_coding|CODING|NM_000301.3|8|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.4008,0.2824,0.3897,0.36,0.27,0.40,,,,,,,,,,,,,,,,
synonymous_variant,PLG,SILENT,NM_000301.3:p.Gly762Gly/c.2286T>G,ggT/ggG,LOW,COSM3829605(1),0.68111,0.9782,rs11060,,,,,,chr6,161173946,161173946,T,G,het,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly762Gly/c.2286T>G|810|PLG|protein_coding|CODING|NM_000301.3|19|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.7147,0.7075,0.5249,,,,,,,,,,,,,,,,,,,
missense_variant,MAP3K4,MISSENSE,NM_005922.3:p.Arg157His/c.470G>A,cGt/cAt,MODERATE,,0.984225,0.995,rs4559074,0.54(T),"0.0,0.0(B,B)",-1.61(N),-1.0803(T),,chr6,161469774,161469774,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg157His/c.470G>A|1604|MAP3K4|protein_coding|CODING|NM_001301072.1|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg157His/c.470G>A|1608|MAP3K4|protein_coding|CODING|NM_005922.3|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg157His/c.470G>A|1558|MAP3K4|protein_coding|CODING|NM_006724.3|3|1),5_prime_UTR_variant(MODIFIER||18489|c.-1270G>A|1061|MAP3K4|protein_coding|CODING|NM_001291958.1|3|1),non_coding_exon_variant(MODIFIER|||n.675G>A||MAP3K4||CODING|NR_120425.1|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9712,0.9563,0.97,0.99,0.96,,0.000000(N),0.999(P),"-0.35,-0.35,-0.35,-0.35(T,T,T,T)",0.0318(T),0.15,-0.051391,5.97,5.97,-0.352000,1.083000,4.820000,0.661000,0.652000,1.000000,12.2396
missense_variant,C6orf118,MISSENSE,NM_144980.3:p.Ile256Met/c.768T>G,atT/atG,MODERATE,COSM3761640(1),0.483626,0.2073,rs510579,0.18(T),0.878(P),1.5(L),-1.0546(T),,chr6,165713961,165713961,A,C,het,missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile256Met/c.768T>G|469|C6orf118|protein_coding|CODING|NM_144980.3|3|1),HeLa-S3:H3K27me3,,,,0.455,0.4395,0.3757,0.48,0.75,0.35,,0.648383(N),1.000(P),"2.48,2.48(T,T)",0.0183(T),0.082,0.061360,5.02,-10.0,-2.324000,-3.147000,-2.096000,0.001000,0.000000,0.000000,7.8459
synonymous_variant,PDE10A,SILENT,NM_001130690.2:p.Leu603Leu/c.1809C>T,ctC/ctT,LOW,,0.180911,0.003,rs1511746,,,,,,chr6,165801790,165801790,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu603Leu/c.1809C>T|789|PDE10A|protein_coding|CODING|NM_001130690.2|17|1),non_coding_exon_variant(MODIFIER|||n.2024C>T||PDE10A||CODING|NR_045597.1|18|1)","HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3",,,,0.2076,0.1297,0.1491,0.20,0.31,0.15,,,,,,,,,,,,,,,,
synonymous_variant,T,SILENT,NM_003181.3:p.Ala392Ala/c.1176G>A,gcG/gcA,LOW,COSM3761644(1),0.238419,0.3095,rs35819705,,,,,,chr6,166571935,166571935,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala334Ala/c.1002G>A|377|T|protein_coding|CODING|NM_001270484.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala392Ala/c.1176G>A|435|T|protein_coding|CODING|NM_003181.3|9|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.32,0.3213,0.2783,0.23,0.08,0.30,,,,,,,,,,,,,,,,
missense_variant,T,MISSENSE,NM_003181.3:p.Gly177Asp/c.530G>A,gGt/gAt,MODERATE,COSM4160357(1),0.391773,0.3423,rs2305089,0.8(T),"0.201,0.035(B,B)",1.145(L),-0.8244(T),,chr6,166579270,166579270,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly177Asp/c.530G>A|377|T|protein_coding|CODING|NM_001270484.1|4|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly177Asp/c.530G>A|435|T|protein_coding|CODING|NM_003181.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4928,0.5288,0.495,0.43,0.26,0.51,,0.000012(D),0.000(P),"-1.31,-1.31,-1.31(T,T,T)",0.2096(T),0.342,1.170949,4.94,4.06,-0.304000,1.059000,5.496000,0.065000,0.142000,1.000000,14.4316
synonymous_variant,RPS6KA2,SILENT,NM_001006932.1:p.Thr445Thr/c.1335A>G,acA/acG,LOW,,0.198882,0.0764,rs2230730,,,,,,chr6,166862233,166862233,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr445Thr/c.1335A>G|741|RPS6KA2|protein_coding|CODING|NM_001006932.1|15|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr437Thr/c.1311A>G|733|RPS6KA2|protein_coding|CODING|NM_021135.4|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1759,0.2723,0.3082,0.27,0.21,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RPS6KA2,SILENT,NM_001006932.1:p.Gly44Gly/c.132C>T,ggC/ggT,LOW,,0.787939,0.9395,rs1003857,,,,,,chr6,166952264,166952264,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly44Gly/c.132C>T|741|RPS6KA2|protein_coding|CODING|NM_001006932.1|3|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly36Gly/c.108C>T|733|RPS6KA2|protein_coding|CODING|NM_021135.4|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8742,0.8487,0.7853,0.72,0.64,0.76,,,,,,,,,,,,,,,,
synonymous_variant,RPS6KA2,SILENT,NM_021135.4:p.Ser15Ser/c.45T>C,tcT/tcC,LOW,COSM1559738(2),0.174521,0.2609,rs10946179,,,,,,chr6,167040463,167040463,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser15Ser/c.45T>C|733|RPS6KA2|protein_coding|CODING|NM_021135.4|1|1),intron_variant(MODIFIER|||c.124-88191T>C|741|RPS6KA2|protein_coding|CODING|NM_001006932.1|2|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HUVEC:H3K27ac,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1258,0.1369,0.1889,0.16,0.15,0.17,,,,,,,,,,,,,,,,
missense_variant,RPS6KA2,MISSENSE,NM_001006932.1:p.Thr34Ala/c.100A>G,Acc/Gcc,MODERATE,,0.922125,0.9534,rs943687,0.63(T),"0.0,0.0(B,B)",0(N),-1.0981(T),,chr6,167271711,167271711,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr34Ala/c.100A>G|741|RPS6KA2|protein_coding|CODING|NM_001006932.1|2|1),"GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.908,0.9784,0.9911,0.94,0.85,0.99,,0.444864(N),1.000(P),"-0.36,-0.4,-0.26(T,T,T)",0.0342(T),0.127,-0.301994,4.74,-9.48,-2.133000,-2.649000,-3.086000,0.000000,0.002000,0.000000,8.3078
missense_variant,GPR31,MISSENSE,NM_005299.2:p.His91Arg/c.272A>G,cAc/cGc,MODERATE,COSM4160362(1),0.986621,1,rs6902566,0.22(T),0.038(B),0.55(N),-1.0127(T),,chr6,167571048,167571048,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His91Arg/c.272A>G|319|GPR31|protein_coding|CODING|NM_005299.2|1|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:Gabp,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.998,0.99,0.96,1.00,,0.693484(N),1.000(P),1.23(T),0.0155(T),0.014,0.264669,3.54,-6.81,-1.741000,-1.961000,0.737000,0.019000,0.005000,0.856000,3.4358
synonymous_variant,TCP10L2,SILENT,NM_001145121.1:p.Thr139Thr/c.417G>A,acG/acA,LOW,,,,rs3737098,,,,,,chr6,167590541,167590541,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr139Thr/c.417G>A|353|TCP10L2|protein_coding|CODING|NM_001145121.1|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TCP10L2,SILENT,NM_001145121.1:p.Ala150Ala/c.450G>C,gcG/gcC,LOW,,,,rs2989541,,,,,,chr6,167590574,167590574,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala150Ala/c.450G>C|353|TCP10L2|protein_coding|CODING|NM_001145121.1|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,UNC93A,MISSENSE,NM_018974.3:p.Met403Thr/c.1208T>C,aTg/aCg,MODERATE,COSM3774191(1),0.78095,0.8085,rs663606,0.75(T),"0.0,0.0(B,B)",-2.67(N),-1.0558(T),,chr6,167728774,167728774,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met361Thr/c.1082T>C|415|UNC93A|protein_coding|CODING|NM_001143947.1|7|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met403Thr/c.1208T>C|457|UNC93A|protein_coding|CODING|NM_018974.3|8|1)","GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.8088,0.5865,0.6252,,,,,0.000189(N),1.000(P),"-1.32,-1.32(T,T)",0.0333(T),0.048,-2.720806,3.86,2.97,-0.355000,0.255000,0.526000,0.010000,0.055000,0.266000,9.2044
synonymous_variant,TTLL2,SILENT,NM_031949.4:p.Ser101Ser/c.303C>T,agC/agT,LOW,,0.309904,0.5079,rs877653,,,,,,chr6,167753691,167753691,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser101Ser/c.303C>T|592|TTLL2|protein_coding|CODING|NM_031949.4|3|1),HeLa-S3:H3K27me3,,,,0.362,0.2824,0.2664,0.26,0.19,0.29,,,,,,,,,,,,,,,,
missense_variant,TTLL2,MISSENSE,NM_031949.4:p.Arg425Gly/c.1273A>G,Aga/Gga,MODERATE,,0.86222,0.8294,rs909545,0.26(T),0.001(B),0(N),-0.9304(T),,chr6,167754661,167754661,A,G,hom,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg425Gly/c.1273A>G|592|TTLL2|protein_coding|CODING|NM_031949.4|3|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3",,,,0.8476,0.8401,0.7753,0.83,0.94,0.77,,0.765518(N),1.000(P),4.21(T),0.0021(T),0.047,1.441905,3.61,2.4,0.402000,0.545000,0.319000,0.041000,0.001000,0.000000,9.1006
synonymous_variant,TTLL2,SILENT,NM_031949.4:p.Asp438Asp/c.1314C>T,gaC/gaT,LOW,COSM1240548(1),0.513379,0.6181,rs909546,,,,,,chr6,167754702,167754702,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp438Asp/c.1314C>T|592|TTLL2|protein_coding|CODING|NM_031949.4|3|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3",,,,0.411,0.4265,0.3966,0.48,0.61,0.42,,,,,,,,,,,,,,,,
synonymous_variant,FRMD1,SILENT,NM_024919.4:p.Ala542Ala/c.1626T>C,gcT/gcC,LOW,,0.860423,0.8482,rs3734898,,,,,,chr6,168457801,168457801,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala474Ala/c.1422T>C|481|FRMD1|protein_coding|CODING|NM_001122841.2|11|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala542Ala/c.1626T>C|549|FRMD1|protein_coding|CODING|NM_024919.4|11|1),non_coding_exon_variant(MODIFIER|||n.2533T>C||FRMD1||CODING|NR_110312.1|16|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9284,0.8156,0.8926,0.88,0.84,0.90,,,,,,,,,,,,,,,,
synonymous_variant,FRMD1,SILENT,NM_024919.4:p.Asp487Asp/c.1461C>T,gaC/gaT,LOW,COSM3761664(3),0.395567,0.4871,rs3734899,,,,,,chr6,168457966,168457966,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp419Asp/c.1257C>T|481|FRMD1|protein_coding|CODING|NM_001122841.2|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp487Asp/c.1461C>T|549|FRMD1|protein_coding|CODING|NM_024919.4|11|1),non_coding_exon_variant(MODIFIER|||n.2368C>T||FRMD1||CODING|NR_110312.1|16|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6207,0.353,0.493,0.36,0.17,0.46,,,,,,,,,,,,,,,,
missense_variant,FRMD1,MISSENSE,NM_024919.4:p.Gln456Glu/c.1366C>G,Cag/Gag,MODERATE,COSM1567921(1),0.86861,0.8482,rs1548349,0.97(T),"0.0,0.0,0.0(B,B,B)",-0.69(N),-1.0304(T),,chr6,168459845,168459845,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln388Glu/c.1162C>G|481|FRMD1|protein_coding|CODING|NM_001122841.2|10|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln456Glu/c.1366C>G|549|FRMD1|protein_coding|CODING|NM_024919.4|10|1),non_coding_exon_variant(MODIFIER|||n.2054C>G||FRMD1||CODING|NR_110312.1|14|1)","K562:H3K27me3,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,0.9264,0.817,0.8926,0.89,0.86,0.90,,0.014329(N),1.000(P),"0.95,0.95,0.95(T,T,T)",0.0110(T),0.014,-2.433115,2.22,0.236,-3.273000,-0.917000,-0.638000,0.000000,0.000000,0.000000,6.59
synonymous_variant,FRMD1,SILENT,NM_024919.4:p.Leu57Leu/c.171C>T,ctC/ctT,LOW,,0.843251,0.8234,rs34054991,,,,,,chr6,168479604,168479604,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu57Leu/c.171C>T|549|FRMD1|protein_coding|CODING|NM_024919.4|1|1),non_coding_exon_variant(MODIFIER|||n.316C>T||FRMD1||CODING|NR_110312.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.908,0.7666,0.8678,0.87,0.84,0.88,,,,,,,,,,,,,,,,
missense_variant,DACT2,MISSENSE,NM_001286351.1:p.Gly275Arg/c.823G>A,Gga/Aga,MODERATE,,0.852436,0.9325,rs7764061,0(D),,,-0.5626(T),,chr6,168694594,168694594,C,T,hom,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly275Arg/c.823G>A|280|DACT2|protein_coding|CODING|NM_001286351.1|6|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.8088,0.8487,0.7674,,,,,,1.000(P),-1.91(D),0.3859(T),0.068,-0.586137,0.528,0.528,-0.893000,-0.442000,0.012000,0.018000,0.001000,0.001000,.
missense_variant,DACT2,MISSENSE,NM_001286351.1:p.Pro233Leu/c.698C>T,cCg/cTg,MODERATE,,0.60603,0.87,rs4708711,0.09(T),,,-0.8599(T),,chr6,168695345,168695345,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro233Leu/c.698C>T|280|DACT2|protein_coding|CODING|NM_001286351.1|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.683,0.7305,0.6203,,,,,,1.000(P),-1.62(D),0.2369(T),0.089,0.523043,0.471,-0.942,-0.970000,-1.265000,-0.870000,0.003000,0.000000,0.000000,.
synonymous_variant,SMOC2,SILENT,NM_022138.2:p.Ala21Ala/c.63T>G,gcT/gcG,LOW,COSM3723656(2),0.395367,0.4593,rs73270928,,,,,,chr6,168842113,168842113,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala21Ala/c.63T>G|446|SMOC2|protein_coding|CODING|NM_001166412.1|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala21Ala/c.63T>G|457|SMOC2|protein_coding|CODING|NM_022138.2|1|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3957,0.2839,0.167,0.17,0.31,0.10,,,,,,,,,,,,,,,,
synonymous_variant,THBS2,SILENT,NM_003247.3:p.Ser259Ser/c.777G>A,tcG/tcA,LOW,COSM3761672(1),0.0928514,0.0079,rs61730651,,,,,,chr6,169641971,169641971,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser259Ser/c.777G>A|1172|THBS2|protein_coding|CODING|NM_003247.3|6|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1595,0.0951,0.1889,0.14,0.06,0.19,,,,,,,,,,,,,,,,
synonymous_variant,THBS2,SILENT,NM_003247.3:p.Asn118Asn/c.354C>T,aaC/aaT,LOW,COSM4003796(1),0.144968,0.0248,rs12178180,,,,,,chr6,169648767,169648767,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn118Asn/c.354C>T|1172|THBS2|protein_coding|CODING|NM_003247.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1933,0.17,0.2575,0.22,0.13,0.26,,,,,,,,,,,,,,,,
missense_variant,WDR27,MISSENSE,NM_182552.4:p.Thr542Ser/c.1624A>T,Acc/Tcc,MODERATE,,0.0573083,0.0992,rs61740334,0.76(T),"0.004,0.014,0.021(B,B,B)",-0.345(N),-0.3444(T),,chr6,170047902,170047902,T,A,het,"missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr415Ser/c.1243A>T|730|WDR27|protein_coding|CODING|NM_001202550.1|13|1),missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr542Ser/c.1624A>T|895|WDR27|protein_coding|CODING|NM_182552.4|16|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0706,0.0418,0.0726,0.05,0.02,0.07,,0.003520(N),1.000(P),"1.94,1.09,-3.79(T,T,D)",0.2945(T),0.216,-0.498641,3.79,-7.58,-0.959000,-2.957000,-5.815000,0.000000,0.000000,0.000000,8.3339
missense_variant,WDR27,MISSENSE,NM_182552.4:p.Arg467His/c.1400G>A,cGt/cAt,MODERATE,,0.0798722,0.0903,rs3800544,0.57(T),"0.0,0.0,0.003,0.001(B,B,B,B)",0.345(N),-1.0092(T),,chr6,170058374,170058374,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg340His/c.1019G>A|730|WDR27|protein_coding|CODING|NM_001202550.1|10|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg467His/c.1400G>A|895|WDR27|protein_coding|CODING|NM_182552.4|13|1),splice_region_variant(LOW|||c.1019G>A|730|WDR27|protein_coding|CODING|NM_001202550.1|10|1),splice_region_variant(LOW|||c.1400G>A|895|WDR27|protein_coding|CODING|NM_182552.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0706,0.049,0.0716,0.08,0.09,0.07,,0.207806(N),1.000(P),"1.92,2.17,1.85(T,T,T)",0.0248(T),0.316,0.181740,4.56,1.5,-0.344000,0.049000,0.443000,0.002000,0.000000,0.001000,7.3373
missense_variant,WDR27,MISSENSE,NM_182552.4:p.Gly218Ser/c.652G>A,Ggc/Agc,MODERATE,COSM4003799(1),0.197484,0.2768,rs41265385,0.62(T),"0.008,0.009(B,B)",-1.225(N),-1.0200(T),,chr6,170068086,170068086,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly218Ser/c.652G>A|895|WDR27|protein_coding|CODING|NM_182552.4|5|1),intron_variant(MODIFIER|||c.332-2434G>A|730|WDR27|protein_coding|CODING|NM_001202550.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.17,0.0895,0.13,0.22,0.09,,0.028056(N),0.000(P),"0.41,0.41(T,T)",0.0178(T),0.142,0.543423,5.25,4.1,-0.302000,0.850000,2.800000,0.880000,0.996000,1.000000,9.4629
synonymous_variant,WDR27,SILENT,NM_182552.4:p.Val186Val/c.558T>C,gtT/gtC,LOW,,0.318291,0.7093,rs3823465,,,,,,chr6,170068180,170068180,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val186Val/c.558T>C|895|WDR27|protein_coding|CODING|NM_182552.4|5|1),intron_variant(MODIFIER|||c.332-2528T>C|730|WDR27|protein_coding|CODING|NM_001202550.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2382,0.3343,0.162,0.15,0.17,0.14,,,,,,,,,,,,,,,,
missense_variant,WDR27,MISSENSE,NM_182552.4:p.Leu133Pro/c.398T>C,cTg/cCg,MODERATE,COSM3761674(1),0.53734,0.9365,rs4236176,1(T),"0.0,0.0(B,B)",-1.52(N),-0.9653(T),,chr6,170070723,170070723,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu133Pro/c.398T>C|895|WDR27|protein_coding|CODING|NM_182552.4|4|1),intron_variant(MODIFIER|||c.331+1628T>C|730|WDR27|protein_coding|CODING|NM_001202550.1|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.4427,0.5548,0.2922,0.32,0.43,0.26,,0.267927(N),1.000(P),"1.73,2.37,0.2(T,T,T)",0.0143(T),0.115,-1.174843,5.52,0.661,-0.362000,-0.185000,0.527000,0.050000,0.000000,0.509000,9.8422
synonymous_variant,ERMARD,SILENT,NM_018341.2:p.Cys290Cys/c.870C>T,tgC/tgT,LOW,,0.201078,0.2738,rs11966349,,,,,,chr6,170162537,170162537,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys290Cys/c.870C>T|631|ERMARD|protein_coding|CODING|NM_001278531.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys164Cys/c.492C>T|552|ERMARD|protein_coding|CODING|NM_001278532.1|8|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys290Cys/c.870C>T|605|ERMARD|protein_coding|CODING|NM_001278533.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys290Cys/c.870C>T|678|ERMARD|protein_coding|CODING|NM_018341.2|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.17,0.1014,0.14,0.24,0.09,,,,,,,,,,,,,,,,
missense_variant,ERMARD,MISSENSE,NM_018341.2:p.Arg502His/c.1505G>A,cGt/cAt,MODERATE,,0.0784744,0.1022,rs41265401,0.16(T),"0.0,0.0,0.0(B,B,B)",-0.895(N),-0.9927(T),,chr6,170176146,170176146,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg502His/c.1505G>A|631|ERMARD|protein_coding|CODING|NM_001278531.1|15|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg376His/c.1127G>A|552|ERMARD|protein_coding|CODING|NM_001278532.1|14|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg502His/c.1505G>A|605|ERMARD|protein_coding|CODING|NM_001278533.1|15|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg502His/c.1505G>A|678|ERMARD|protein_coding|CODING|NM_018341.2|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0726,0.0562,0.0785,0.07,0.06,0.08,,0.000154(N),1.000(P),"0.96,0.96(T,T)",0.0126(T),0.076,-0.116188,5.27,-10.5,-1.533000,-3.144000,-0.948000,0.000000,0.000000,0.000000,12.4976
missense_variant,ERMARD,MISSENSE,NM_001278531.1:p.Lys520Glu/c.1558A>G,Aag/Gag,MODERATE,,0.328275,0.3304,rs4716345,1(T),0.017(B),,-0.9854(T),,chr6,170176467,170176467,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys520Glu/c.1558A>G|631|ERMARD|protein_coding|CODING|NM_001278531.1|16|1),intron_variant(MODIFIER|||c.1143-84A>G|552|ERMARD|protein_coding|CODING|NM_001278532.1|14|1),intron_variant(MODIFIER|||c.1521-84A>G|678|ERMARD|protein_coding|CODING|NM_018341.2|15|1),intron_variant(MODIFIER|||c.1520+306A>G|605|ERMARD|protein_coding|CODING|NM_001278533.1|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.2954,0.2366,,,,,,1.000(P),,0.0128(T),0.076,-0.803699,2.13,-3.05,-0.475000,-0.834000,-2.904000,0.001000,0.000000,0.000000,7.8986
synonymous_variant,ERMARD,SILENT,NM_018341.2:p.Ile539Ile/c.1617C>T,atC/atT,LOW,COSM3761678(2),0.34365,0.3304,rs4716399,,,,,,chr6,170176647,170176647,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile413Ile/c.1239C>T|552|ERMARD|protein_coding|CODING|NM_001278532.1|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile539Ile/c.1617C>T|678|ERMARD|protein_coding|CODING|NM_018341.2|16|1),intron_variant(MODIFIER|||c.1520+486C>T|605|ERMARD|protein_coding|CODING|NM_001278533.1|15|1),intron_variant(MODIFIER|||c.1598+140C>T|631|ERMARD|protein_coding|CODING|NM_001278531.1|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.304,0.2366,0.31,0.48,0.22,,,,,,,,,,,,,,,,
missense_variant,ERMARD,MISSENSE,NM_018341.2:p.Ser540Gly/c.1618A>G,Agc/Ggc,MODERATE,COSM3761679(2),0.34365,0.3304,rs4716346,0.4(T),0.0(B),1.475(L),-1.0609(T),,chr6,170176648,170176648,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser414Gly/c.1240A>G|552|ERMARD|protein_coding|CODING|NM_001278532.1|15|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser540Gly/c.1618A>G|678|ERMARD|protein_coding|CODING|NM_018341.2|16|1),intron_variant(MODIFIER|||c.1520+487A>G|605|ERMARD|protein_coding|CODING|NM_001278533.1|15|1),intron_variant(MODIFIER|||c.1598+141A>G|631|ERMARD|protein_coding|CODING|NM_001278531.1|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.304,0.2366,0.31,0.48,0.22,,0.337097(N),1.000(P),"0.84,0.84(T,T)",0.0292(T),0.04,1.863197,5.37,-6.82,-1.485000,-1.767000,-0.628000,0.019000,0.000000,0.000000,5.928
synonymous_variant,FAM120B,SILENT,NM_001286380.1:p.Thr414Thr/c.1242G>A,acG/acA,LOW,COSM3761688(2),0.499201,0.124,rs9460113,,,,,,chr6,170627651,170627651,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr403Thr/c.1209G>A|922|FAM120B|protein_coding|CODING|NM_001286379.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr414Thr/c.1242G>A|933|FAM120B|protein_coding|CODING|NM_001286380.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr391Thr/c.1173G>A|910|FAM120B|protein_coding|CODING|NM_032448.2|2|1),intron_variant(MODIFIER|||c.-90+11721G>A|242|FAM120B|protein_coding|CODING|NM_001286381.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5389,0.5951,0.671,0.64,0.57,0.67,,,,,,,,,,,,,,,,
missense_variant,PSMB1,MISSENSE,NM_002793.3:p.Pro11Ala/c.31C>G,Cct/Gct,MODERATE,COSM3761698(3),0.45008,0.7728,rs12717,0.34(T),0.0(B),0.345(N),-0.9448(T),,chr6,170862300,170862300,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro11Ala/c.31C>G|241|PSMB1|protein_coding|CODING|NM_002793.3|1|1),upstream_gene_variant(MODIFIER||1121||319|TBP|protein_coding|CODING|NM_001172085.1||1),upstream_gene_variant(MODIFIER||1121||339|TBP|protein_coding|CODING|NM_003194.4||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,K562:SP2,IMR90:H4K5ac,HUVEC:H3K9ac,K562:FAIRE,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,CD4:H2AK9ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:THAP1,K562:Cmyc,HUVEC:Cmyc,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,GM12878:Sin3Ak20",,,,0.4387,0.3991,0.4085,0.36,0.30,0.39,,0.964623(N),1.000(P),1.85(T),0.0117(T),0.028,1.324311,4.37,0.413,0.563000,-0.128000,0.024000,0.102000,0.000000,0.000000,6.0254
synonymous_variant,TBP,SILENT,NM_003194.4:p.Gln72Gln/c.216A>G,caA/caG,LOW,COSM3723811(4),,,rs55736770,,,,,,chr6,170871040,170871040,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln52Gln/c.156A>G|319|TBP|protein_coding|CODING|NM_001172085.1|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln72Gln/c.216A>G|339|TBP|protein_coding|CODING|NM_003194.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118598.1,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TBP,SILENT,NM_003194.4:p.Gln74Gln/c.222A>G,caA/caG,LOW,COSM2156799(4),,,rs62430309,,,,,,chr6,170871046,170871046,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln54Gln/c.162A>G|319|TBP|protein_coding|CODING|NM_001172085.1|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln74Gln/c.222A>G|339|TBP|protein_coding|CODING|NM_003194.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TBP,SILENT,NM_003194.4:p.Gln75Gln/c.225G>A,caG/caA,LOW,COSM595316(3),,,rs56241301,,,,,,chr6,170871049,170871049,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln55Gln/c.165G>A|319|TBP|protein_coding|CODING|NM_001172085.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln75Gln/c.225G>A|339|TBP|protein_coding|CODING|NM_003194.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TBP,SILENT,NM_003194.4:p.Gln77Gln/c.231G>A,caG/caA,LOW,COSM1442362(11),,,rs112928724,,,,,,chr6,170871055,170871055,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln57Gln/c.171G>A|319|TBP|protein_coding|CODING|NM_001172085.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln77Gln/c.231G>A|339|TBP|protein_coding|CODING|NM_003194.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TBP,SILENT,NM_003194.4:p.Asn257Asn/c.771T>C,aaT/aaC,LOW,,0.614617,0.7877,rs1042327,,,,-0.9458(T),,chr6,170878793,170878793,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn237Asn/c.711T>C|319|TBP|protein_coding|CODING|NM_001172085.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn257Asn/c.771T>C|339|TBP|protein_coding|CODING|NM_003194.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118601.2,,0.4949,0.4957,0.5139,0.55,0.66,0.50,,,0.000(P),,0.1237(T),.,1.291874,6.17,-0.493,-0.119000,-0.240000,0.387000,0.992000,0.989000,0.993000,13.7889
synonymous_variant,FAM20C,SILENT,NM_020223.3:p.Val553Val/c.1659G>T,gtG/gtT,LOW,,0.53115,0.498,rs36170987,,,,,,chr7,299850,299850,G,T,het,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val553Val/c.1659G>T|584|FAM20C|protein_coding|CODING|NM_020223.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4581,0.3184,0.492,0.52,0.69,0.44,,,,,,,,,,,,,,,,
missense_variant,FAM20C,MISSENSE,NM_020223.3:p.Asn564Asp/c.1690A>G,Aac/Gac,MODERATE,,0.525359,0.502,rs36139924,0.56(T),0.001(B),0.28(N),-0.9086(T),,chr7,299881,299881,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn564Asp/c.1690A>G|584|FAM20C|protein_coding|CODING|NM_020223.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.455,0.3256,0.492,0.51,0.65,0.44,,,1.000(P),-1.02(T),0.0000(T),0.01,-1.305530,5.39,1.3,-0.231000,-0.264000,3.872000,0.042000,0.060000,1.000000,9.3449
synonymous_variant,HEATR2,SILENT,NM_017802.3:p.Ser423Ser/c.1269C>T,tcC/tcT,LOW,,0.0944489,0,rs73036225,,,,-1.0762(T),,chr7,796430,796430,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser423Ser/c.1269C>T|855|HEATR2|protein_coding|CODING|NM_017802.3|6|1),non_coding_exon_variant(MODIFIER|||n.1227C>T||HEATR2||CODING|NR_075098.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.1066,0.2127,0.17,0.05,0.23,,,0.000(P),,0.0000(T),.,0.106613,5.49,-11.0,-2.136000,-3.807000,-1.344000,0.005000,0.000000,0.003000,10.2483
missense_variant,HEATR2,MISSENSE,NM_017802.3:p.Val632Ala/c.1895T>C,gTg/gCg,MODERATE,COSM4162472(1),0.391374,0.3532,rs4720951,0.09(T),"0.003,0.003,0.004(B,B,B)",1.355(L),-0.9704(T),,chr7,810219,810219,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val632Ala/c.1895T>C|855|HEATR2|protein_coding|CODING|NM_017802.3|9|1),non_coding_exon_variant(MODIFIER|||n.1853T>C||HEATR2||CODING|NR_075098.1|9|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3681,0.4395,0.4632,0.43,0.36,0.47,,0.432019(N),0.969(P),"-0.25,-0.25,-0.25(T,T,T)",0.0000(T),0.401,1.016258,4.7,3.55,0.533000,0.662000,3.805000,0.025000,0.590000,0.999000,9.7282
missense_variant,HEATR2,MISSENSE,NM_017802.3:p.Arg743Lys/c.2228G>A,aGg/aAg,MODERATE,,0.66873,0.62,rs3922641,1(T),"0.0,0.0,0.0(B,B,B)",-1.52(N),-0.9291(T),,chr7,814788,814788,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg743Lys/c.2228G>A|855|HEATR2|protein_coding|CODING|NM_017802.3|11|1),non_coding_exon_variant(MODIFIER|||n.2186G>A||HEATR2||CODING|NR_075098.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.682,0.6744,0.6054,0.63,0.69,0.59,,0.000039(N),1.000(P),"-0.18,-0.18,-0.18(T,T,T)",0.0000(T),0.162,-0.019136,5.15,2.76,-0.361000,0.009000,0.903000,0.907000,0.786000,1.000000,8.382
missense_variant,SUN1,MISSENSE,NM_001130965.2:p.His118Tyr/c.352C>T,Cac/Tac,MODERATE,,0.532947,0.6399,rs6461378,0.38(T),"0.212,0.558,0.175,0.311,0.354(B,P,B,B,B)",1.1(L),-0.9469(T),,chr7,881668,881668,C,T,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His118Tyr/c.352C>T|785|SUN1|protein_coding|CODING|NM_001130965.2|3|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His118Tyr/c.352C>T|682|SUN1|protein_coding|CODING|NM_001171944.1|4|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His139Tyr/c.415C>T|278|SUN1|protein_coding|CODING|NM_001171945.1|5|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His118Tyr/c.352C>T|257|SUN1|protein_coding|CODING|NM_001171946.1|4|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His68Tyr/c.202C>T|702|SUN1|protein_coding|CODING|NM_025154.5|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4673,0.4438,0.4324,0.48,0.56,0.43,,0.276357(N),0.000(P),"0.7,0.7,0.7,0.7,0.7,0.7,0.7,0.7,0.7,0.7,0.7,0.7(T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.148,1.410311,5.56,5.56,0.655000,2.610000,5.379000,0.026000,0.960000,1.000000,19.1101
missense_variant,ADAP1,MISSENSE,NM_001284308.1:p.Gly252Ser/c.754G>A,Ggc/Agc,MODERATE,COSM4162506(1),0.867013,0.8988,rs10256887,1(T),0.0(B),-2.25(N),-0.9897(T),,chr7,940181,940181,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly252Ser/c.754G>A|385|ADAP1|protein_coding|CODING|NM_001284308.1|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly169Ser/c.505G>A|302|ADAP1|protein_coding|CODING|NM_001284309.1|7|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly169Ser/c.505G>A|302|ADAP1|protein_coding|CODING|NM_001284310.1|6|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly146Ser/c.436G>A|279|ADAP1|protein_coding|CODING|NM_001284311.1|5|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly241Ser/c.721G>A|374|ADAP1|protein_coding|CODING|NM_006869.3|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7996,0.8069,0.828,0.88,0.93,0.85,,0.002400(N),1.000(P),"2.0,2.0,2.0(T,T,T)",0.0000(T),0.275,-1.689529,4.47,4.47,-0.376000,0.564000,0.460000,0.025000,0.929000,0.026000,5.2829
missense_variant,CYP2W1,MISSENSE,NM_017781.2:p.Pro488Leu/c.1463C>T,cCc/cTc,MODERATE,COSM1162823(2),0.182508,0.3006,rs3808348,0(D),0.049(B),0(N),-1.0907(T),,chr7,1028448,1028448,C,T,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro488Leu/c.1463C>T|490|CYP2W1|protein_coding|CODING|NM_017781.2|9|1),"H1ESC:DNase1,HepG2:H3K36me3,K562:DNase1",,,,0.1278,0.245,0.2147,0.15,0.08,0.18,,0.013803(N),0.999(P),-1.47(T),0.0000(T),0.082,0.824082,4.65,4.65,0.555000,2.275000,2.052000,0.570000,0.934000,0.006000,10.1859
missense_variant,GPER1,MISSENSE,NM_001039966.1:p.Ser373Arg/c.1119T>G,agT/agG,MODERATE,,0.00139776,0,rs138657567,0(D),0.003(B),0.55(N),-0.9991(T),,chr7,1132483,1132483,T,G,het,"missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser373Arg/c.1119T>G|375|GPER1|protein_coding|CODING|NM_001039966.1|3|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser373Arg/c.1119T>G|375|GPER1|protein_coding|CODING|NM_001098201.1|2|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser373Arg/c.1119T>G|375|GPER1|protein_coding|CODING|NM_001505.2|2|1),intron_variant(MODIFIER|||c.129+34410A>C|194|C7orf50|protein_coding|CODING|NM_001134395.1|2|1),intron_variant(MODIFIER|||c.129+34410A>C|194|C7orf50|protein_coding|CODING|NM_001134396.1|2|1),intron_variant(MODIFIER|||c.129+34410A>C|194|C7orf50|protein_coding|CODING|NM_032350.5|2|1)","H1ESC:H3K36me3,GM12878:Pax5,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0,0.0014,0.005,0.01,0.00,0.01,,,0.536(N),"-0.37,-0.37,-0.37,-0.37(T,T,T,T)",0.1076(T),0.145,1.001155,5.39,-4.52,-0.256000,-1.228000,-1.721000,0.145000,0.020000,0.000000,10.5344
synonymous_variant,MICALL2,SILENT,NM_182924.3:p.Ala540Ala/c.1620G>T,gcG/gcT,LOW,,0.992212,1,rs4236408,,,,,,chr7,1481919,1481919,C,A,hom,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala540Ala/c.1620G>T|904|MICALL2|protein_coding|CODING|NM_182924.3|7|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.9856,0.9732,0.99,1.00,0.98,,,,,,,,,,,,,,,,
synonymous_variant,MICALL2,SILENT,NM_182924.3:p.Leu510Leu/c.1530C>G,ctC/ctG,LOW,COSM4004362(2),0.254593,0.4802,rs386423348,,,,,,chr7,1482009,1482009,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu510Leu/c.1530C>G|904|MICALL2|protein_coding|CODING|NM_182924.3|7|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3497,0.2017,0.1262,0.12,0.13,0.11,,,,,,,,,,,,,,,,
synonymous_variant,MICALL2,SILENT,NM_182924.3:p.Gly378Gly/c.1134T>C,ggT/ggC,LOW,COSM3762467(6),0.994409,1,rs10435184,,,,,,chr7,1484572,1484572,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly378Gly/c.1134T>C|904|MICALL2|protein_coding|CODING|NM_182924.3|6|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.9914,0.9801,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,TMEM184A,MISSENSE,NM_001097620.1:p.Ser390Gly/c.1168A>G,Agc/Ggc,MODERATE,,0.626997,0.6895,rs3779607,0.48(T),0.0(B),-0.28(N),-0.9660(T),,chr7,1586662,1586662,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser390Gly/c.1168A>G|413|TMEM184A|protein_coding|CODING|NM_001097620.1|9|1),"IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5204,0.6744,0.6213,0.54,0.57,0.52,,0.000034(U),1.000(P),1.49(T),0.0000(T),0.022,-0.614207,4.64,-3.61,-1.016000,-0.770000,-1.656000,0.002000,0.000000,0.000000,5.362
missense_variant,TMEM184A,MISSENSE,NM_001097620.1:p.Ala18Val/c.53C>T,gCg/gTg,MODERATE,COSM3762546(1),0.222045,0.1915,rs17852421,0.35(T),0.0(B),0.345(N),-0.9718(T),,chr7,1595068,1595068,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala18Val/c.53C>T|413|TMEM184A|protein_coding|CODING|NM_001097620.1|2|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM06990:H3K27me3,HeLa-S3:Max,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,K562:Znf263,HepG2:HEY1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,HeLa-S3:PolII,HepG2:FOSL2,HeLa-S3:Ini1,HeLa-S3:Cfos,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:Jund,NHEK:DNase1,K562:DNase1",,,,0.1677,0.3631,0.2455,0.21,0.19,0.23,,0.750848(U),1.000(P),"1.42,0.73,0.82,0.81,0.82(T,T,T,T,T)",0.0000(T),0.249,0.290622,4.27,-2.47,-0.369000,-0.333000,-0.512000,0.002000,0.000000,0.000000,6.1542
missense_variant,MAD1L1,MISSENSE,NM_001013836.1:p.Arg558His/c.1673G>A,cGc/cAc,MODERATE,COSM3762559(1),0.304712,0.4454,rs1801368,0.12(T),"0.002,0.001,0.001(B,B,B)",0.755(N),-0.9100(T),,chr7,1976457,1976457,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg558His/c.1673G>A|718|MAD1L1|protein_coding|CODING|NM_001013836.1|17|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg558His/c.1673G>A|718|MAD1L1|protein_coding|CODING|NM_001013837.1|17|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg558His/c.1673G>A|718|MAD1L1|protein_coding|CODING|NM_003550.2|17|1)","H1ESC:H3K36me3,CD4:H4K91ac,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.4366,0.3877,0.27,0.09,0.37,,0.138191(N),1.000(P),"2.01,2.01,2.01,2.01,2.01,2.01(T,T,T,T,T,T)",0.0000(T),0.035,1.322527,4.77,-0.00151,0.555000,0.085000,-0.301000,0.579000,0.002000,0.000000,8.2117
synonymous_variant,MAD1L1,SILENT,NM_001013836.1:p.His221His/c.663C>T,caC/caT,LOW,COSM3762592(1),0.365615,0.5139,rs6951493,,,,,,chr7,2257612,2257612,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His221His/c.663C>T|718|MAD1L1|protein_coding|CODING|NM_001013836.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His221His/c.663C>T|718|MAD1L1|protein_coding|CODING|NM_001013837.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His221His/c.663C>T|718|MAD1L1|protein_coding|CODING|NM_003550.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3691,0.389,0.338,0.33,0.30,0.35,,,,,,,,,,,,,,,,
missense_variant,NUDT1,MISSENSE,NM_198949.1:p.Gly53Ser/c.157G>A,Ggc/Agc,MODERATE,COSM1259694(1),,,rs199969160,0(D),0.976(D),2.475(M),0.0296(D),,chr7,2284297,2284297,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly30Ser/c.88G>A|156|NUDT1|protein_coding|CODING|NM_002452.3|2|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly30Ser/c.88G>A|156|NUDT1|protein_coding|CODING|NM_198948.1|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly53Ser/c.157G>A|179|NUDT1|protein_coding|CODING|NM_198949.1|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly30Ser/c.88G>A|156|NUDT1|protein_coding|CODING|NM_198950.1|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly53Ser/c.157G>A|179|NUDT1|protein_coding|CODING|NM_198952.1|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly30Ser/c.88G>A|156|NUDT1|protein_coding|CODING|NM_198953.1|2|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly53Ser/c.157G>A|179|NUDT1|protein_coding|CODING|NM_198954.1|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.000000(D),1.000(D),"1.03,1.03,1.03,1.03,-0.01,1.03,1.03(T,T,T,T,T,T,T)",0.4431(T),0.873,3.986863,3.8,3.8,0.462000,1.816000,7.219000,0.267000,0.891000,1.000000,16.0353
synonymous_variant,SNX8,SILENT,NM_013321.2:p.Ile376Ile/c.1128T>C,atT/atC,LOW,COSM4006689(2),0.90615,0.7996,rs6888,,,,,,chr7,2297006,2297006,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile376Ile/c.1128T>C|465|SNX8|protein_coding|CODING|NM_013321.2|9|1),downstream_gene_variant(MODIFIER||144|||MIR6836||NON_CODING|NR_106895.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8691,0.8991,0.9662,0.97,0.97,0.96,,,,,,,,,,,,,,,,
synonymous_variant,SNX8,SILENT,NM_013321.2:p.Ala243Ala/c.729A>G,gcA/gcG,LOW,,0.843251,0.7996,rs2286206,,,,,,chr7,2303986,2303986,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala243Ala/c.729A>G|465|SNX8|protein_coding|CODING|NM_013321.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8742,0.8775,0.9652,0.90,0.78,0.96,,,,,,,,,,,,,,,,
missense_variant,SNX8,MISSENSE,NM_013321.2:p.Glu146Lys/c.436G>A,Gag/Aag,MODERATE,,,,,0.17(T),0.978(D),2.53(M),-0.5726(T),,chr7,2311589,2311589,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu146Lys/c.436G>A|465|SNX8|protein_coding|CODING|NM_013321.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"0.88,0.88,1.12,0.88(T,T,T,T)",0.2727(T),0.916,5.216328,5.01,5.01,0.655000,2.314000,7.277000,0.971000,1.000000,1.000000,16.5041
missense_variant,EIF3B,MISSENSE,NM_001037283.1:p.Ser64Pro/c.190T>C,Tcc/Ccc,MODERATE,COSM4162105(2),0.751198,0.8621,rs9690787,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9558(T),,chr7,2394746,2394746,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser64Pro/c.190T>C|814|EIF3B|protein_coding|CODING|NM_001037283.1|1|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser64Pro/c.190T>C|814|EIF3B|protein_coding|CODING|NM_003751.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.8078,0.768,0.7833,,,,,0.080698(N),1.000(P),"0.95,0.67,0.95(T,T,T)",0.0000(T),0.179,-0.253571,3.28,0.179,-0.398000,-0.569000,-0.779000,0.010000,0.000000,0.000000,3.1226
synonymous_variant,EIF3B,SILENT,NM_001037283.1:p.Asn145Asn/c.435C>T,aaC/aaT,LOW,COSM3765346(3),0.234225,0.2808,rs11551167,,,,,,chr7,2394991,2394991,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn145Asn/c.435C>T|814|EIF3B|protein_coding|CODING|NM_001037283.1|1|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn145Asn/c.435C>T|814|EIF3B|protein_coding|CODING|NM_003751.3|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H3K27ac,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.41,0.1513,0.2704,0.17,0.09,0.21,,,,,,,,,,,,,,,,
synonymous_variant,LFNG,SILENT,NM_001040167.1:p.Ser324Ser/c.972G>A,tcG/tcA,LOW,,0.0199681,0.004,rs12700028,,,,,,chr7,2566028,2566028,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser324Ser/c.972G>A|379|LFNG|protein_coding|CODING|NM_001040167.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser324Ser/c.972G>A|361|LFNG|protein_coding|CODING|NM_001040168.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser253Ser/c.759G>A|308|LFNG|protein_coding|CODING|NM_001166355.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser195Ser/c.585G>A|250|LFNG|protein_coding|CODING|NM_002304.2|7|1),upstream_gene_variant(MODIFIER||680|||MIR4648||NON_CODING|NR_039791.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0133,0.0389,0.0517,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,BRAT1,SILENT,NM_152743.3:p.Glu796Glu/c.2388A>G,gaA/gaG,LOW,COSM452894(5),0.461462,0.3661,rs1043291,,,,,,chr7,2577781,2577781,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu796Glu/c.2388A>G|821|BRAT1|protein_coding|CODING|NM_152743.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3374,0.4121,0.3519,0.44,0.64,0.33,,,,,,,,,,,,,,,,
synonymous_variant,BRAT1,SILENT,NM_152743.3:p.Arg644Arg/c.1932A>G,cgA/cgG,LOW,COSM3750019(12),0.460863,0.3671,rs4719552,,,,,,chr7,2578237,2578237,T,C,hom,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg644Arg/c.1932A>G|821|BRAT1|protein_coding|CODING|NM_152743.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3374,0.4121,0.3519,0.35,0.61,0.22,,,,,,,,,,,,,,,,
missense_variant,BRAT1,MISSENSE,NM_152743.3:p.Arg644Gln/c.1931G>A,cGa/cAa,MODERATE,COSM3750020(8),0.0688898,0.006,rs4719553,0.47(T),0.008(B),0.92(L),-1.0840(T),,chr7,2578238,2578238,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg644Gln/c.1931G>A|821|BRAT1|protein_coding|CODING|NM_152743.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0736,0.1628,0.1431,,,,,0.195304(N),1.000(P),-0.31(T),0.0010(T),0.091,0.608294,5.32,1.39,-0.258000,-0.025000,-1.134000,0.312000,0.906000,0.000000,9.3037
synonymous_variant,BRAT1,SILENT,NM_152743.3:p.Thr233Thr/c.699G>A,acG/acA,LOW,COSM452895(2),0.096246,0.0079,rs61753095,,,,,,chr7,2583328,2583328,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr233Thr/c.699G>A|821|BRAT1|protein_coding|CODING|NM_152743.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1513,0.1859,0.1819,0.15,0.05,0.20,,,,,,,,,,,,,,,,
synonymous_variant,IQCE,SILENT,NM_001287499.1:p.Thr104Thr/c.312T>C,acT/acC,LOW,COSM4162112(1),0.661342,0.5159,rs2917751,,,,,,chr7,2611878,2611878,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr104Thr/c.312T>C|702|IQCE|protein_coding|CODING|NM_001287499.1|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr88Thr/c.264T>C|686|IQCE|protein_coding|CODING|NM_001287500.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr39Thr/c.117T>C|630|IQCE|protein_coding|CODING|NM_001287501.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr39Thr/c.117T>C|637|IQCE|protein_coding|CODING|NM_001287502.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr104Thr/c.312T>C|695|IQCE|protein_coding|CODING|NM_152558.4|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,K562:E2F6,K562:Cjun,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.729,0.6931,0.7604,0.72,0.65,0.76,,,,,,,,,,,,,,,,
missense_variant,IQCE,MISSENSE,NM_001287499.1:p.Ala546Val/c.1637C>T,gCt/gTt,MODERATE,COSM452909(2),0.411741,0.495,rs2293404,0.17(T),"0.19,0.176,0.329,0.221(B,B,B,B)",1.465(L),-0.8687(T),,chr7,2644519,2644519,C,T,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala546Val/c.1637C>T|702|IQCE|protein_coding|CODING|NM_001287499.1|19|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala530Val/c.1589C>T|686|IQCE|protein_coding|CODING|NM_001287500.1|18|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala481Val/c.1442C>T|630|IQCE|protein_coding|CODING|NM_001287501.1|17|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala481Val/c.1442C>T|637|IQCE|protein_coding|CODING|NM_001287502.1|17|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala546Val/c.1637C>T|695|IQCE|protein_coding|CODING|NM_152558.4|19|1)","IMR90:H3K36me3,NHEK:H3K36me3,H1ESC:CTCF",,,,0.3998,0.4625,0.326,0.30,0.36,0.27,,0.079466(N),1.000(P),"1.03,1.03,1.03,1.03,1.03(T,T,T,T,T)",0.0000(T),0.215,0.742568,4.9,4.9,0.650000,2.286000,2.567000,0.630000,0.031000,0.889000,13.6658
synonymous_variant,IQCE,SILENT,NM_001287499.1:p.Val575Val/c.1725G>T,gtG/gtT,LOW,,0.10643,0.0526,rs2293405,,,,,,chr7,2644607,2644607,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val575Val/c.1725G>T|702|IQCE|protein_coding|CODING|NM_001287499.1|19|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val559Val/c.1677G>T|686|IQCE|protein_coding|CODING|NM_001287500.1|18|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val510Val/c.1530G>T|630|IQCE|protein_coding|CODING|NM_001287501.1|17|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val510Val/c.1530G>T|637|IQCE|protein_coding|CODING|NM_001287502.1|17|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val575Val/c.1725G>T|695|IQCE|protein_coding|CODING|NM_152558.4|19|1)","H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,H1ESC:CTCF",,,,0.0665,0.1527,0.171,0.13,0.09,0.14,,,,,,,,,,,,,,,,
missense_variant,IQCE,MISSENSE,NM_001287499.1:p.Thr596Ala/c.1786A>G,Acg/Gcg,MODERATE,,0.413938,0.494,rs2293407,0.69(T),"0.001,0.001,0.0,0.006(B,B,B,B)",0(N),-0.9301(T),,chr7,2645552,2645552,A,G,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr596Ala/c.1786A>G|702|IQCE|protein_coding|CODING|NM_001287499.1|20|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr580Ala/c.1738A>G|686|IQCE|protein_coding|CODING|NM_001287500.1|19|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr531Ala/c.1591A>G|630|IQCE|protein_coding|CODING|NM_001287501.1|18|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr531Ala/c.1591A>G|637|IQCE|protein_coding|CODING|NM_001287502.1|18|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr596Ala/c.1786A>G|695|IQCE|protein_coding|CODING|NM_152558.4|20|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4029,0.464,0.327,0.30,0.36,0.28,,0.289966(N),1.000(P),"2.92,2.91,2.92,2.92,2.03(T,T,T,T,T)",0.0000(T),0.023,-0.019104,4.79,2.89,-0.215000,0.150000,0.318000,0.007000,0.000000,0.000000,7.1807
missense_variant,IQCE,MISSENSE,NM_001287499.1:p.Arg635Lys/c.1904G>A,aGg/aAg,MODERATE,,0.102236,0.0526,rs61729413,0.78(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",0.895(L),-1.0207(T),,chr7,2646796,2646796,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg570Lys/c.1709G>A|630|IQCE|protein_coding|CODING|NM_001287501.1|19|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg635Lys/c.1904G>A|695|IQCE|protein_coding|CODING|NM_152558.4|21|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg635Lys/c.1904G>A|702|IQCE|protein_coding|CODING|NM_001287499.1|21|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg619Lys/c.1856G>A|686|IQCE|protein_coding|CODING|NM_001287500.1|20|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg570Lys/c.1709G>A|637|IQCE|protein_coding|CODING|NM_001287502.1|19|1)","HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0665,0.1542,0.171,0.12,0.08,0.15,,0.263181(N),1.000(P),"2.74,2.74,2.74,2.75,1.76(T,T,T,T,T)",0.0001(T),0.075,0.431038,4.38,-3.56,-0.294000,-0.903000,-0.682000,0.004000,0.000000,0.000000,5.5866
synonymous_variant,IQCE,SILENT,NM_001287499.1:p.Ala686Ala/c.2058T>G,gcT/gcG,LOW,,0.413938,0.495,rs1056568,,,,,,chr7,2646950,2646950,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala686Ala/c.2058T>G|702|IQCE|protein_coding|CODING|NM_001287499.1|21|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala670Ala/c.2010T>G|686|IQCE|protein_coding|CODING|NM_001287500.1|20|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala621Ala/c.1863T>G|637|IQCE|protein_coding|CODING|NM_001287502.1|19|1),intron_variant(MODIFIER|||c.1774+89T>G|630|IQCE|protein_coding|CODING|NM_001287501.1|19|1),intron_variant(MODIFIER|||c.1969+89T>G|695|IQCE|protein_coding|CODING|NM_152558.4|21|1)","HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4029,0.4625,0.327,,,,,,,,,,,,,,,,,,,
missense_variant,IQCE,MISSENSE,NM_152558.4:p.Leu666Val/c.1996T>G,Ttg/Gtg,MODERATE,COSM3762605(1),,,rs3735109,0.51(T),"0.0,0.0(B,B)",0(N),-0.9190(T),,chr7,2649704,2649704,T,G,het,"missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu601Val/c.1801T>G|630|IQCE|protein_coding|CODING|NM_001287501.1|20|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu666Val/c.1996T>G|695|IQCE|protein_coding|CODING|NM_152558.4|22|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,,,,0.38,0.31,0.42,,0.125918(N),1.000(P),"2.78,2.77,2.78,2.78(T,T,T,T)",0.0000(T),0.039,-1.031507,3.81,-0.101,-0.648000,-0.406000,-1.269000,0.002000,0.000000,0.000000,2.4276
synonymous_variant,AMZ1,SILENT,NM_133463.2:p.Ser379Ser/c.1137G>A,tcG/tcA,LOW,COSM452924(4),0.179712,0.2004,rs798565,,,,,,chr7,2752152,2752152,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser379Ser/c.1137G>A|498|AMZ1|protein_coding|CODING|NM_133463.2|7|1),3_prime_UTR_variant(MODIFIER||73|c.*73G>A|297|AMZ1|protein_coding|CODING|NM_001284355.1|6|1)","H1ESC:H3K36me3,CD4:H4K91ac,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1442,0.2464,0.2793,0.22,0.10,0.28,,,,,,,,,,,,,,,,
missense_variant,AMZ1,MISSENSE,NM_133463.2:p.Arg491His/c.1472G>A,cGt/cAt,MODERATE,,0.321486,0.0933,rs7776970,0.19(T),0.0(B),0(N),-0.9240(T),,chr7,2752487,2752487,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg491His/c.1472G>A|498|AMZ1|protein_coding|CODING|NM_133463.2|7|1),3_prime_UTR_variant(MODIFIER||408|c.*408G>A|297|AMZ1|protein_coding|CODING|NM_001284355.1|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.2695,0.341,0.37,0.50,0.31,,0.441400(N),1.000(P),1.95(T),0.0000(T),0.041,1.069149,4.49,2.57,0.561000,0.962000,1.428000,0.001000,0.001000,0.003000,5.7029
start_lost,GNA12,MISSENSE,NM_001282440.1:p.Met1?/c.1A>G,Atg/Gtg,HIGH,,0.222244,0.2232,rs798488,0(D),,,-1.0906(T),GNA12:0.25(4);,chr7,2802522,2802522,T,C,het,"start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|305|GNA12|protein_coding|CODING|NM_001282440.1|1|1),intron_variant(MODIFIER|||c.526-31138A>G|364|GNA12|protein_coding|CODING|NM_001293092.1|2|1),intron_variant(MODIFIER|||c.349-29387A>G|322|GNA12|protein_coding|CODING|NM_001282441.1|3|1),intron_variant(MODIFIER|||c.526-29387A>G|381|GNA12|protein_coding|CODING|NM_007353.2|2|1)","H1ESC:H3K36me3,IMR90:H3K9ac,GM12878:H3K36me3,K562:H3K36me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1708,0.2723,0.2893,0.18,0.13,0.20,,,0.000(P),-2.07(D),0.0000(T),0.045,-0.144096,2.23,0.0859,-0.182000,0.044000,-1.702000,0.005000,0.000000,0.000000,3.4452
missense_variant,GNA12,MISSENSE,NM_001282441.1:p.Thr23Ile/c.68C>T,aCa/aTa,MODERATE,,0.333466,0.2321,rs2644275,0(D),0.0(B),,-1.0173(T),,chr7,2854010,2854010,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr23Ile/c.68C>T|322|GNA12|protein_coding|CODING|NM_001282441.1|2|1),intron_variant(MODIFIER|||c.310-19233C>T|364|GNA12|protein_coding|CODING|NM_001293092.1|1|1),intron_variant(MODIFIER|||c.310-19233C>T|381|GNA12|protein_coding|CODING|NM_007353.2|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.4741,0.3986,0.41,0.35,0.43,,,1.000(P),-2.09(D),0.0000(T),0.03,0.399413,1.44,-1.31,-1.177000,-0.982000,-1.029000,0.000000,0.000000,0.000000,6.5903
synonymous_variant,CARD11,SILENT,NM_032415.5:p.Asp533Asp/c.1599C>T,gaC/gaT,LOW,,0.102037,0.0129,rs1621509,,,,,,chr7,2969680,2969680,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp533Asp/c.1599C>T|1154|CARD11|protein_coding|CODING|NM_032415.5|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0879,0.1787,0.2366,0.17,0.08,0.22,,,,,,,,,,,,,,,,
synonymous_variant,CARD11,SILENT,NM_032415.5:p.Asp415Asp/c.1245C>T,gaC/gaT,LOW,COSM4162140(1),0.090655,0.0109,rs6945582,,,,,,chr7,2976767,2976767,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp415Asp/c.1245C>T|1154|CARD11|protein_coding|CODING|NM_032415.5|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0716,0.1556,0.2078,0.15,0.07,0.19,,,,,,,,,,,,,,,,
missense_variant,SDK1,MISSENSE,NM_152744.3:p.Ser58Pro/c.172T>C,Tcc/Ccc,MODERATE,COSM4162179(2),0.772764,0.5556,rs10228086,0.34(T),0.0(B),0(N),-0.9430(T),,chr7,3341390,3341390,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser58Pro/c.172T>C|2213|SDK1|protein_coding|CODING|NM_152744.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8855,0.732,0.7237,,,,,,1.000(P),"0.12,0.15(T,T)",0.0000(T),0.065,0.705901,1.28,0.321,-2.818000,-0.300000,.,0.017000,0.001000,.,3.9539
missense_variant,SDK1,MISSENSE,NM_152744.3:p.Arg72Trp/c.214C>T,Cgg/Tgg,MODERATE,,,,,0.01(D),0.025(B),0(N),-1.0393(T),,chr7,3341432,3341432,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg72Trp/c.214C>T|2213|SDK1|protein_coding|CODING|NM_152744.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3",,,,,,,,,,,,1.000(N),"-0.17,-0.14(T,T)",0.0815(T),0.223,1.793532,0.477,0.477,0.282000,0.538000,-0.332000,0.069000,0.003000,0.005000,6.8713
synonymous_variant,SDK1,SILENT,NM_152744.3:p.Leu707Leu/c.2121C>G,ctC/ctG,LOW,COSM3762662(1),0.422125,0.1647,rs7785899,,,,,,chr7,4026944,4026944,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu707Leu/c.2121C>G|2213|SDK1|protein_coding|CODING|NM_152744.3|14|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.4182,0.3718,0.2942,0.46,0.70,0.34,,,,,,,,,,,,,,,,
missense_variant,SDK1,MISSENSE,NM_152744.3:p.Asp1016Asn/c.3046G>A,Gac/Aac,MODERATE,COSM1450683(1),0.253594,0.0754,rs11978101,0.91(T),"0.002,0.173(B,B)",-0.165(N),-0.9939(T),,chr7,4116665,4116665,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp1016Asn/c.3046G>A|2213|SDK1|protein_coding|CODING|NM_152744.3|21|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3589,0.1758,0.2843,0.30,0.33,0.28,,0.115635(N),1.000(P),"0.37,0.37(T,T)",0.0000(T),0.037,-1.685606,5.37,1.48,0.650000,-0.001000,2.000000,0.034000,0.000000,0.805000,5.7658
synonymous_variant,SDK1,SILENT,NM_152744.3:p.Ala1535Ala/c.4605G>C,gcG/gcC,LOW,COSM3762665(1),0.786542,0.7817,rs659182,,,,,,chr7,4189075,4189075,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala22Ala/c.66G>C|679|SDK1|protein_coding|CODING|NM_001079653.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala1535Ala/c.4605G>C|2213|SDK1|protein_coding|CODING|NM_152744.3|30|1)","NHEK:H3K36me3,HeLa-S3:H3K27me3",,,,0.6646,0.7738,0.6918,0.77,0.93,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SDK1,SILENT,NM_152744.3:p.Asn1608Asn/c.4824T>C,aaT/aaC,LOW,COSM4162207(1),0.670727,0.7629,rs601424,,,,,,chr7,4213877,4213877,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn95Asn/c.285T>C|679|SDK1|protein_coding|CODING|NM_001079653.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1608Asn/c.4824T>C|2213|SDK1|protein_coding|CODING|NM_152744.3|33|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.6728,0.696,0.6561,0.64,0.62,0.65,,,,,,,,,,,,,,,,
synonymous_variant,SDK1,SILENT,NM_152744.3:p.Thr1629Thr/c.4887T>C,acT/acC,LOW,,0.665735,0.7659,rs671756,,,,,,chr7,4213940,4213940,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr116Thr/c.348T>C|679|SDK1|protein_coding|CODING|NM_001079653.1|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1629Thr/c.4887T>C|2213|SDK1|protein_coding|CODING|NM_152744.3|33|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.6759,0.6902,0.6561,0.63,0.61,0.64,,,,,,,,,,,,,,,,
missense_variant,SDK1,MISSENSE,NM_152744.3:p.His1641Arg/c.4922A>G,cAt/cGt,MODERATE,,0.799321,0.7619,rs386604626,0.81(T),"0.0,0.0,0.001(B,B,B)",-1.935(N),-0.9634(T),,chr7,4213975,4213975,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His128Arg/c.383A>G|679|SDK1|protein_coding|CODING|NM_001079653.1|7|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1641Arg/c.4922A>G|2213|SDK1|protein_coding|CODING|NM_152744.3|33|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.681,0.781,0.7266,0.79,0.94,0.71,,0.001077(N),1.000(P),"0.23,0.55(T,T)",0.0000(T),0.28,-0.568836,4.91,4.91,-0.355000,1.073000,3.076000,0.030000,0.086000,0.994000,11.7605
missense_variant,SDK1,MISSENSE,NM_001079653.1:p.Arg674Cys/c.2020C>T,Cgt/Tgt,MODERATE,,0.120807,0.1121,rs8514,,,,,,chr7,4308362,4308362,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg674Cys/c.2020C>T|679|SDK1|protein_coding|CODING|NM_001079653.1|20|1),3_prime_UTR_variant(MODIFIER||3346|c.*3346C>T|2213|SDK1|protein_coding|CODING|NM_152744.3|45|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.0654,0.1772,0.2465,0.16,0.06,0.21,,,,,,,,,,,,,,,,
synonymous_variant,FOXK1,SILENT,NM_001037165.1:p.Thr202Thr/c.606G>T,acG/acT,LOW,,0.567891,0.8502,rs3087749,,,,,,chr7,4780514,4780514,G,T,hom,synonymous_variant(LOW|SILENT|acG/acT|p.Thr202Thr/c.606G>T|733|FOXK1|protein_coding|CODING|NM_001037165.1|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7014,0.5634,0.4811,0.43,0.34,0.47,,,,,,,,,,,,,,,,
synonymous_variant,FOXK1,SILENT,NM_001037165.1:p.Gly712Gly/c.2136T>G,ggT/ggG,LOW,COSM3762703(3),0.988818,1,rs6976790,,,,-1.0229(T),,chr7,4802029,4802029,T,G,hom,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly712Gly/c.2136T>G|733|FOXK1|protein_coding|CODING|NM_001037165.1|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.9959,0.9669,0.9722,0.98,1.00,0.97,,,0.905(P),,0.0000(T),.,-0.815405,5.0,0.467,-0.225000,-0.057000,0.723000,0.033000,0.002000,1.000000,3.5873
missense_variant,RADIL,MISSENSE,NM_018059.4:p.Ser886Gly/c.2656A>G,Agc/Ggc,MODERATE,COSM3762722(1),0.996406,1,rs414035,,,-1.845(N),,,chr7,4841470,4841470,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser886Gly/c.2656A>G|1075|RADIL|protein_coding|CODING|NM_018059.4|12|1),"H1ESC:DNase1,HepG2:H3K27me3",,,,1,0.9885,0.9901,0.99,1.00,0.99,,,1.000(P),,,.,-2.029879,4.94,0.203,-3.198000,-1.265000,-0.568000,0.001000,0.000000,0.007000,12.4289
missense_variant,RADIL,MISSENSE,NM_018059.4:p.His412Asp/c.1234C>G,Cac/Gac,MODERATE,,0.251398,0.3294,rs2292498,0.64(T),0.0(B),-1.59(N),-0.9402(T),,chr7,4874420,4874420,G,C,het,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His412Asp/c.1234C>G|1075|RADIL|protein_coding|CODING|NM_018059.4|4|1),"K562:H3K36me3,HepG2:H3K27me3",,,,0.3957,0.2853,0.2873,0.23,0.07,0.30,,0.147315(N),1.000(P),"3.45,2.03,3.37(T,T,T)",0.0000(T),0.093,-1.905182,4.45,2.56,-0.218000,0.291000,1.196000,0.011000,0.004000,0.095000,8.1854
missense_variant,RADIL,MISSENSE,NM_018059.4:p.Asp239Asn/c.715G>A,Gac/Aac,MODERATE,COSM3762728(1),0.250998,0.3264,rs3763384,0.57(T),0.059(B),1.06(L),-0.9263(T),,chr7,4876057,4876057,C,T,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp239Asn/c.715G>A|1075|RADIL|protein_coding|CODING|NM_018059.4|3|1),"K562:H3K36me3,HepG2:H3K27me3",,,,0.3967,0.2853,0.2873,0.23,0.07,0.31,,0.195056(N),0.000(P),"3.27,1.85(T,T)",0.0000(T),0.044,1.274597,4.85,4.85,0.462000,2.243000,0.996000,0.004000,0.055000,0.018000,10.7848
synonymous_variant,PAPOLB,SILENT,NM_020144.4:p.Asn449Asn/c.1347T>C,aaT/aaC,LOW,COSM3762729(2),0.453075,0.4117,rs1553960,,,,,,chr7,4900095,4900095,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn449Asn/c.1347T>C|637|PAPOLB|protein_coding|CODING|NM_020144.4|1|1),intron_variant(MODIFIER|||c.535+17141T>C|1075|RADIL|protein_coding|CODING|NM_018059.4|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.544,0.3559,0.341,0.43,0.52,0.39,,,,,,,,,,,,,,,,
synonymous_variant,PAPOLB,SILENT,NM_020144.4:p.Ser367Ser/c.1101C>T,agC/agT,LOW,COSM3762731(1),0.235423,0.3105,rs17135247,,,,,,chr7,4900341,4900341,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser367Ser/c.1101C>T|637|PAPOLB|protein_coding|CODING|NM_020144.4|1|1),intron_variant(MODIFIER|||c.535+16895C>T|1075|RADIL|protein_coding|CODING|NM_018059.4|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3967,0.2622,0.2515,0.20,0.06,0.27,,,,,,,,,,,,,,,,
missense_variant,PAPOLB,MISSENSE,NM_020144.4:p.Asn19Lys/c.57T>G,aaT/aaG,MODERATE,,0.495008,0.4117,rs3750009,1(T),0.0(B),-2.685(N),-0.9476(T),,chr7,4901385,4901385,A,C,het,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn19Lys/c.57T>G|637|PAPOLB|protein_coding|CODING|NM_020144.4|1|1),intron_variant(MODIFIER|||c.535+15851T>G|1075|RADIL|protein_coding|CODING|NM_018059.4|2|1)","HUVEC:H3K27me3,HUVEC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5409,0.3689,0.341,0.47,0.63,0.39,,,0.000(P),,0.0000(T),0.025,-2.186441,4.13,3.25,-0.121000,0.718000,0.699000,0.003000,0.189000,1.000000,3.8434
synonymous_variant,MMD2,SILENT,NM_001100600.1:p.His95His/c.285C>T,caC/caT,LOW,COSM3762733(2),0.441693,0.2996,rs932061,,,,,,chr7,4959807,4959807,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His95His/c.285C>T|270|MMD2|protein_coding|CODING|NM_001100600.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His95His/c.285C>T|193|MMD2|protein_coding|CODING|NM_001270375.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His95His/c.285C>T|246|MMD2|protein_coding|CODING|NM_198403.3|3|1),non_coding_exon_variant(MODIFIER|||n.481C>T||MMD2||CODING|NR_072989.1|3|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2751,0.5951,0.4085,0.46,0.56,0.41,,,,,,,,,,,,,,,,
synonymous_variant,RBAK,SILENT,NM_001204456.1:p.Asn682Asn/c.2046C>T,aaC/aaT,LOW,COSM1451372(2),0.575879,0.5526,rs12334144,,,,,,chr7,5105133,5105133,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn682Asn/c.2046C>T|714|RBAK|protein_coding|CODING|NM_001204456.1|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn682Asn/c.2046C>T|714|RBAK|protein_coding|CODING|NM_021163.3|5|1),intron_variant(MODIFIER|||c.239-6860C>T|113|RBAK-RBAKDN|protein_coding|CODING|NM_001204513.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5399,0.4193,0.5129,0.57,0.72,0.50,,,,,,,,,,,,,,,,
synonymous_variant,WIPI2,SILENT,NM_015610.3:p.Val91Val/c.273C>G,gtC/gtG,LOW,,0.994409,1,rs4587243,,,,,,chr7,5254227,5254227,C,G,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val32Val/c.96C>G|384|WIPI2|protein_coding|CODING|NM_001033520.1|1|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val91Val/c.273C>G|443|WIPI2|protein_coding|CODING|NM_001033518.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val73Val/c.219C>G|425|WIPI2|protein_coding|CODING|NM_001033519.1|3|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val91Val/c.273C>G|454|WIPI2|protein_coding|CODING|NM_015610.3|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val73Val/c.219C>G|436|WIPI2|protein_coding|CODING|NM_016003.3|3|1),5_prime_UTR_variant(MODIFIER||2018|c.-160C>G|310|WIPI2|protein_coding|CODING|NM_001278299.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9914,0.9831,0.99,1.00,0.98,,,,,,,,,,,,,,,,
synonymous_variant,WIPI2,SILENT,NM_015610.3:p.Pro199Pro/c.597G>A,ccG/ccA,LOW,COSM3762744(1),0.0473243,0.002,rs1134489,,,,,,chr7,5257573,5257573,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro199Pro/c.597G>A|443|WIPI2|protein_coding|CODING|NM_001033518.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro181Pro/c.543G>A|425|WIPI2|protein_coding|CODING|NM_001033519.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro140Pro/c.420G>A|384|WIPI2|protein_coding|CODING|NM_001033520.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro55Pro/c.165G>A|310|WIPI2|protein_coding|CODING|NM_001278299.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro199Pro/c.597G>A|454|WIPI2|protein_coding|CODING|NM_015610.3|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro181Pro/c.543G>A|436|WIPI2|protein_coding|CODING|NM_016003.3|6|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:EBF,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.0491,0.1037,0.1044,0.09,0.03,0.13,,,,,,,,,,,,,,,,
synonymous_variant,SLC29A4,SILENT,NM_001040661.1:p.Asp326Asp/c.978T>C,gaT/gaC,LOW,COSM3762748(1),0.288938,0.12,rs6950111,,,,,,chr7,5338714,5338714,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp326Asp/c.978T>C|530|SLC29A4|protein_coding|CODING|NM_001040661.1|8|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp312Asp/c.936T>C|516|SLC29A4|protein_coding|CODING|NM_001300847.1|8|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp326Asp/c.978T>C|530|SLC29A4|protein_coding|CODING|NM_153247.2|8|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1472,0.2795,0.3052,0.38,0.45,0.34,,,,,,,,,,,,,,,,
synonymous_variant,TNRC18,SILENT,NM_001080495.2:p.Pro2965Pro/c.8895C>T,ccC/ccT,LOW,COSM4162295(1),0.128994,0.1151,rs9639976,,,,,,chr7,5347749,5347749,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro2965Pro/c.8895C>T|2968|TNRC18|protein_coding|CODING|NM_001080495.2|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.17,0.2565,0.20,0.08,0.25,,,,,,,,,,,,,,,,
synonymous_variant,TNRC18,SILENT,NM_001080495.2:p.Ser2621Ser/c.7863C>A,tcC/tcA,LOW,COSM1090751(4),0.4373,0.246,rs138591330,0(D),,,-0.9545(T),,chr7,5352659,5352659,G,T,het,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser2621Ser/c.7863C>A|2968|TNRC18|protein_coding|CODING|NM_001080495.2|27|1),"HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4029,0.5274,0.508,,,,,0.428578(N),0.679(P),,0.0000(T),.,-1.858244,4.17,-1.59,-1.713000,-0.333000,0.742000,0.001000,0.029000,1.000000,4.5564
synonymous_variant,TNRC18,SILENT,NM_001080495.2:p.Pro2487Pro/c.7461G>A,ccG/ccA,LOW,,0.0579073,0.0575,rs188607046,,,,-1.0674(T),,chr7,5353061,5353061,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2487Pro/c.7461G>A|2968|TNRC18|protein_coding|CODING|NM_001080495.2|27|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.1167,0.0378,0.04,0.04,0.04,,,1.000(P),,0.0009(T),.,-1.209017,4.89,-9.77,-1.195000,-2.886000,-6.100000,0.163000,0.000000,0.000000,1.8474
synonymous_variant,TNRC18,SILENT,NM_001080495.2:p.Arg1998Arg/c.5994C>A,cgC/cgA,LOW,COSM1744590(11),0.528355,0.7063,rs13238738,,,,-0.9789(T),,chr7,5372406,5372406,G,T,hom,synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg1998Arg/c.5994C>A|2968|TNRC18|protein_coding|CODING|NM_001080495.2|19|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4898,0.4352,0.673,0.66,0.55,0.71,,,0.000(P),,0.0000(T),.,1.738038,4.14,2.1,0.555000,0.648000,0.427000,0.996000,0.997000,0.998000,12.3787
missense_variant,TNRC18,MISSENSE,NM_001080495.2:p.Asn1676Asp/c.5026A>G,Aac/Gac,MODERATE,COSM3927853(1),0.372404,0.1597,rs35508364,0.83(T),"0.0,0.0(B,B)",-1.7(N),-0.9292(T),,chr7,5396715,5396715,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1676Asp/c.5026A>G|2968|TNRC18|protein_coding|CODING|NM_001080495.2|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3579,0.3156,0.4791,0.47,0.49,0.46,,0.000245(N),0.000(P),"2.89,2.89,1.09(T,T,T)",0.0000(T),0.037,0.141296,5.52,4.64,-0.215000,0.724000,1.454000,0.945000,1.000000,1.000000,7.7425
synonymous_variant,TNRC18,SILENT,NM_001080495.2:p.Ser1606Ser/c.4818G>C,tcG/tcC,LOW,COSM3762758(2),0.255192,0.2808,rs12531309,,,,,,chr7,5399044,5399044,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser1606Ser/c.4818G>C|2968|TNRC18|protein_coding|CODING|NM_001080495.2|15|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2342,0.2536,0.2594,0.28,0.25,0.29,,,,,,,,,,,,,,,,
missense_variant,TNRC18,MISSENSE,NM_001080495.2:p.Ala1267Gly/c.3800C>G,gCg/gGg,MODERATE,COSM3762761(2),0.343051,0.4236,rs12671708,0.53(T),0.001(B),1.5(L),-0.9357(T),,chr7,5410425,5410425,G,C,hom,missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala1267Gly/c.3800C>G|2968|TNRC18|protein_coding|CODING|NM_001080495.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4652,0.487,0.4175,0.34,0.12,0.44,,0.685646(N),1.000(P),"2.75,2.75(T,T)",0.0000(T),0.04,0.094781,3.63,-0.141,-0.521000,-0.021000,-0.160000,0.638000,0.033000,0.000000,6.8614
missense_variant,TNRC18,MISSENSE,NM_001080495.2:p.Ser579Pro/c.1735T>C,Tct/Cct,MODERATE,COSM3762765(2),0.999201,1,rs4724663,1(T),0.0(B),-1.245(N),-0.9976(T),,chr7,5427720,5427720,A,G,hom,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser579Pro/c.1735T>C|2968|TNRC18|protein_coding|CODING|NM_001080495.2|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.997,1.00,1.00,1.00,,,0.995(P),"2.79,2.79(T,T)",0.0000(T),0.031,0.416110,3.42,3.42,-0.246000,1.027000,1.924000,0.344000,0.334000,0.446000,7.0728
synonymous_variant,TNRC18,SILENT,NM_001080495.2:p.Ser93Ser/c.279T>C,tcT/tcC,LOW,COSM4162310(1),0.924321,0.998,rs4724668,,,,,,chr7,5434135,5434135,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser93Ser/c.279T>C|2968|TNRC18|protein_coding|CODING|NM_001080495.2|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9427,0.8775,0.7803,0.84,0.96,0.78,,,,,,,,,,,,,,,,
synonymous_variant,FBXL18,SILENT,NM_024963.4:p.Thr377Thr/c.1131T>G,acT/acG,LOW,COSM3762777(2),0.94389,0.9256,rs6953642,,,,-1.0389(T),,chr7,5540769,5540769,A,C,hom,synonymous_variant(LOW|SILENT|acT/acG|p.Thr377Thr/c.1131T>G|718|FBXL18|protein_coding|CODING|NM_024963.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9376,0.8977,0.9314,0.93,0.98,0.90,,,0.726(P),,0.0000(T),.,0.390396,5.03,-5.45,-0.973000,-1.552000,-1.933000,0.978000,0.732000,0.000000,2.586
synonymous_variant,FBXL18,SILENT,NM_024963.4:p.Ser81Ser/c.243C>T,agC/agT,LOW,COSM4162318(1),0.706869,0.7351,rs4724704,,,,,,chr7,5541657,5541657,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser81Ser/c.243C>T|718|FBXL18|protein_coding|CODING|NM_024963.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6534,0.5951,0.6501,0.69,0.82,0.63,,,,,,,,,,,,,,,,
missense_variant,CCZ1,MISSENSE,NM_015622.5:p.Val332Ile/c.994G>A,Gtc/Atc,MODERATE,COSM4162326(3),,,rs200812052,0.41(T),0.004(B),0.83(L),-1.0162(T),,chr7,5959485,5959485,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val332Ile/c.994G>A|482|CCZ1|protein_coding|CODING|NM_015622.5|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.044862(N),1.000(P),,0.0000(T),0.043,0.583985,4.95,-5.07,-1.478000,-1.341000,0.909000,0.007000,0.000000,0.093000,9.8324
missense_variant,PMS2,MISSENSE,NM_000535.5:p.Lys541Glu/c.1621A>G,Aaa/Gaa,MODERATE,COSM4162329(1),0.883187,0.878,rs2228006,1(T),"0.0,0.0,0.0(B,B,B)",-1.445(N),-0.9487(T),,chr7,6026775,6026775,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys541Glu/c.1621A>G|862|PMS2|protein_coding|CODING|NM_000535.5|11|1),non_coding_exon_variant(MODIFIER|||n.1703A>G||PMS2||CODING|NR_003085.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000030365.2|RCV000034619.2,,0.8937,0.7738,0.8767,0.87,0.92,0.85,,0.496690(N),0.910(P),"1.0,1.0,-1.94(T,T,D)",0.0000(T),0.353,-0.097243,5.54,4.66,-0.124000,0.737000,1.443000,0.036000,0.022000,0.003000,10.5689
synonymous_variant,PMS2,SILENT,NM_000535.5:p.Ser260Ser/c.780C>G,tcC/tcG,LOW,COSM4162330(1),0.83127,0.879,rs1805319,,,,,,chr7,6036980,6036980,G,C,hom,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser260Ser/c.780C>G|862|PMS2|protein_coding|CODING|NM_000535.5|7|1),non_coding_exon_variant(MODIFIER|||n.862C>G||PMS2||CODING|NR_003085.2|7|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,IMR90:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,HMEC:CTCF,NH-A:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,GM06990:CTCF",,RCV000030372.2|RCV000079112.1|RCV000131484.1,,0.8037,0.7478,0.836,0.82,0.84,0.81,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD61,SILENT,NM_001271700.1:p.Lys18Lys/c.54G>A,aaG/aaA,LOW,,0.33766,0.3641,rs4724769,,,,,,chr7,6071060,6071060,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys18Lys/c.54G>A|418|ANKRD61|protein_coding|CODING|NM_001271700.1|1|1),intron_variant(MODIFIER|||c.1330-2397C>T|629|EIF2AK1|protein_coding|CODING|NM_001134335.1|11|1),intron_variant(MODIFIER|||c.1333-2397C>T|630|EIF2AK1|protein_coding|CODING|NM_014413.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3436,0.4164,0.4742,,,,,,,,,,,,,,,,,,,
missense_variant,ANKRD61,MISSENSE,NM_001271700.1:p.Met355Leu/c.1063A>T,Atg/Ttg,MODERATE,,0.333866,0.3631,rs2302334,0.31(T),,,-0.9036(T),,chr7,6075823,6075823,A,T,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met355Leu/c.1063A>T|418|ANKRD61|protein_coding|CODING|NM_001271700.1|3|1),intron_variant(MODIFIER|||c.1329+1232T>A|629|EIF2AK1|protein_coding|CODING|NM_001134335.1|11|1),intron_variant(MODIFIER|||c.1332+1232T>A|630|EIF2AK1|protein_coding|CODING|NM_014413.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3272,0.415,0.4742,,,,,0.022141(N),0.000(P),1.54(T),0.0000(T),0.253,0.375551,5.76,2.05,0.460000,0.380000,1.107000,0.954000,0.895000,0.995000,14.0786
missense_variant,EIF2AK1,MISSENSE,NM_014413.3:p.Leu319His/c.956T>A,cTt/cAt,MODERATE,,0.00898562,0,rs34909691,0.54(T),"0.005,0.159,0.151(B,B,B)",0.345(N),-1.0223(T),,chr7,6080686,6080686,A,T,het,"missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu318His/c.953T>A|629|EIF2AK1|protein_coding|CODING|NM_001134335.1|9|1),missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu319His/c.956T>A|630|EIF2AK1|protein_coding|CODING|NM_014413.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0143,0.0173,0.0179,0.02,0.00,0.02,,0.333889(N),1.000(N),"-0.27,-0.34(T,T)",0.0572(T),0.163,0.731364,5.36,-1.8,0.533000,0.018000,0.404000,0.024000,0.013000,0.000000,6.7447
synonymous_variant,USP42,SILENT,NM_032172.2:p.Leu651Leu/c.1953T>C,ctT/ctC,LOW,,0.282748,0.4276,rs3764814,,,,,,chr7,6189780,6189780,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu651Leu/c.1953T>C|1316|USP42|protein_coding|CODING|NM_032172.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1973,0.1844,0.0885,0.17,0.36,0.07,,,,,,,,,,,,,,,,
missense_variant,USP42,MISSENSE,NM_032172.2:p.Arg779Pro/c.2336G>C,cGc/cCc,MODERATE,COSM3750037(6),0.578075,0.7331,rs61729726,0.3(T),"0.0,0.0(B,B)",0(N),-1.0687(T),,chr7,6193521,6193521,G,C,het,missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg779Pro/c.2336G>C|1316|USP42|protein_coding|CODING|NM_032172.2|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4274,0.4121,0.3082,0.37,0.66,0.24,,0.655737(N),1.000(P),"2.52,2.93(T,T)",0.0000(T),0.337,1.494372,5.46,2.59,-0.120000,0.265000,0.469000,0.000000,0.000000,0.001000,2.8136
missense_variant,USP42,MISSENSE,NM_032172.2:p.Leu1030Pro/c.3089T>C,cTg/cCg,MODERATE,COSM4162335(1),0.471246,0.7282,rs6463529,0.33(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0075(T),,chr7,6194274,6194274,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1030Pro/c.3089T>C|1316|USP42|protein_coding|CODING|NM_032172.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.2767,0.171,0.28,0.54,0.15,,0.005023(N),1.000(P),"1.01,1.01(T,T)",0.0000(T),0.367,0.017211,5.66,4.51,-1.068000,0.429000,.,0.007000,0.604000,.,8.4494
synonymous_variant,CYTH3,SILENT,NM_004227.3:p.Thr344Thr/c.1032T>G,acT/acG,LOW,,0.795128,0.8502,rs2301910,,,,,,chr7,6204999,6204999,A,C,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr344Thr/c.1032T>G|399|CYTH3|protein_coding|CODING|NM_004227.3|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.6974,0.7087,0.75,0.89,0.68,,,,,,,,,,,,,,,,
synonymous_variant,CYTH3,SILENT,NM_004227.3:p.Tyr43Tyr/c.129T>C,taT/taC,LOW,,0.00958466,0,rs41282682,,,,,,chr7,6227341,6227341,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr43Tyr/c.129T>C|399|CYTH3|protein_coding|CODING|NM_004227.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0173,0.0199,0.02,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,FAM220A,SILENT,NM_001037163.1:p.Asp214Asp/c.642C>T,gaC/gaT,LOW,,0.442292,0.4603,rs1043965,,,,,,chr7,6370144,6370144,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp214Asp/c.642C>T|259|FAM220A|protein_coding|CODING|NM_001037163.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3926,0.3703,0.1988,0.34,0.62,0.20,,,,,,,,,,,,,,,,
missense_variant,FAM220A,MISSENSE,NM_001037163.1:p.Val198Met/c.592G>A,Gtg/Atg,MODERATE,,0.732628,0.8839,rs386606129,0.1(T),0.135(B),0.69(N),-1.0691(T),,chr7,6370194,6370194,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val198Met/c.592G>A|259|FAM220A|protein_coding|CODING|NM_001037163.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.6614,0.4553,0.60,0.84,0.48,,0.709569(N),1.000(P),3.15(T),0.0000(T),0.043,1.635657,5.2,-1.16,-0.140000,-0.596000,-0.236000,0.000000,0.000000,0.000000,1.7656
missense_variant,FAM220A,MISSENSE,NM_001037163.1:p.Val161Leu/c.481G>C,Gtg/Ctg,MODERATE,,0.722444,0.8829,rs3750039,1(T),0.0(B),-1.1(N),-0.9998(T),,chr7,6370305,6370305,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val161Leu/c.481G>C|259|FAM220A|protein_coding|CODING|NM_001037163.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6861,0.6571,0.4573,0.59,0.81,0.48,,0.816637(N),1.000(P),3.42(T),0.0000(T),0.013,-0.360916,4.91,-3.78,-0.120000,-0.771000,-0.039000,0.108000,0.000000,0.000000,3.879
missense_variant,FAM220A,MISSENSE,NM_001037163.1:p.Arg127Gln/c.380G>A,cGg/cAg,MODERATE,COSM3721092(1),0.723043,0.8839,rs3750040,0.6(T),0.662(P),0.69(N),-1.0388(T),,chr7,6370406,6370406,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg127Gln/c.380G>A|259|FAM220A|protein_coding|CODING|NM_001037163.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6861,0.6571,0.4543,0.59,0.81,0.48,,0.556900(U),1.000(P),3.1(T),0.0000(T),0.101,0.819362,5.12,4.23,0.655000,1.144000,0.772000,0.004000,0.023000,0.002000,8.367
synonymous_variant,DAGLB,SILENT,NM_139179.3:p.Gly538Gly/c.1614A>C,ggA/ggC,LOW,,0.0161741,0,rs77154720,,,,,,chr7,6449967,6449967,T,G,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly409Gly/c.1227A>C|543|DAGLB|protein_coding|CODING|NM_001142936.1|12|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly538Gly/c.1614A>C|672|DAGLB|protein_coding|CODING|NM_139179.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0331,0.0417,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,DAGLB,MISSENSE,NM_139179.3:p.Ala103Val/c.308C>T,gCg/gTg,MODERATE,COSM1318969(1),0.0155751,0,rs117103601,1(T),"0.04,0.003(B,B)",1.39(L),-1.0283(T),,chr7,6476104,6476104,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala103Val/c.308C>T|543|DAGLB|protein_coding|CODING|NM_001142936.1|3|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala103Val/c.308C>T|672|DAGLB|protein_coding|CODING|NM_139179.3|3|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:H2BK5ac,CD4:DNase1,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.0164,0.0317,0.0398,0.03,0.01,0.04,,0.008026(N),0.999(N),"0.94,0.89,0.9(T,T,T)",0.0169(T),0.342,0.382635,5.87,5.0,0.655000,1.635000,2.356000,0.440000,0.248000,0.025000,7.9535
synonymous_variant,KDELR2,SILENT,NM_006854.3:p.Leu135Leu/c.405A>G,ctA/ctG,LOW,,0.814497,0.5853,rs2230263,,,,,,chr7,6505901,6505901,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu135Leu/c.405A>G|212|KDELR2|protein_coding|CODING|NM_006854.3|4|1),intron_variant(MODIFIER|||c.352-3095A>G|186|KDELR2|protein_coding|CODING|NM_001100603.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6575,0.8602,0.9463,0.95,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GRID2IP,SILENT,NM_001145118.1:p.Leu1146Leu/c.3438C>G,ctC/ctG,LOW,COSM4162345(1),0.75599,0.5377,rs6463568,,,,,,chr7,6537821,6537821,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1146Leu/c.3438C>G|1211|GRID2IP|protein_coding|CODING|NM_001145118.1|21|1),HepG2:H3K27me3,,,,0.6544,0.8444,0.9384,0.90,0.83,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GRID2IP,SILENT,NM_001145118.1:p.Ala221Ala/c.663A>C,gcA/gcC,LOW,COSM3750039(16),0.721246,0.4206,rs2881723,,,,,,chr7,6566322,6566322,T,G,hom,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala221Ala/c.663A>C|1211|GRID2IP|protein_coding|CODING|NM_001145118.1|3|1),"NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,K562:Egr1,HepG2:H3K4me3,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF",,,,0.637,0.8228,0.8887,,,,,,,,,,,,,,,,,,,
missense_variant,GRID2IP,MISSENSE,NM_001145118.1:p.Arg133His/c.398G>A,cGc/cAc,MODERATE,COSM4162358(2),0.311901,0.2728,rs9690195,0.04(D),0.099(B),1.39(L),-0.9598(T),,chr7,6590670,6590670,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg133His/c.398G>A|1211|GRID2IP|protein_coding|CODING|NM_001145118.1|1|1),H1ESC:DNase1,,,,0.2883,0.3631,0.2853,,,,,0.005189(U),0.000(P),0.83(T),0.0000(T),0.414,3.579366,4.9,4.9,0.555000,2.423000,3.720000,0.798000,1.000000,1.000000,9.583
synonymous_variant,GRID2IP,SILENT,NM_001145118.1:p.Arg125Arg/c.375C>T,cgC/cgT,LOW,COSM3750041(3),0.771366,0.5446,rs6463571,,,,,,chr7,6590693,6590693,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg125Arg/c.375C>T|1211|GRID2IP|protein_coding|CODING|NM_001145118.1|1|1),H1ESC:DNase1,,,,0.5429,0.8386,0.8817,,,,,,,,,,,,,,,,,,,
synonymous_variant,GRID2IP,SILENT,NM_001145118.1:p.Thr9Thr/c.27G>C,acG/acC,LOW,COSM3762807(1),0.303115,0.2173,rs4724818,,,,,,chr7,6591041,6591041,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr9Thr/c.27G>C|1211|GRID2IP|protein_coding|CODING|NM_001145118.1|1|1),,,,,0.18,0.3703,0.5249,,,,,,,,,,,,,,,,,,,
missense_variant,ZDHHC4,MISSENSE,NM_001134387.1:p.Val53Met/c.157G>A,Gtg/Atg,MODERATE,COSM3762809(2),0.326078,0.2351,rs11559146,0.28(T),"0.002,0.003(B,B)",-1.24(N),-0.9826(T),,chr7,6621277,6621277,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val53Met/c.157G>A|344|ZDHHC4|protein_coding|CODING|NM_001134387.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val53Met/c.157G>A|344|ZDHHC4|protein_coding|CODING|NM_001134388.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val53Met/c.157G>A|344|ZDHHC4|protein_coding|CODING|NM_001134389.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val53Met/c.157G>A|344|ZDHHC4|protein_coding|CODING|NM_018106.3|4|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2761,0.3732,0.2813,0.31,0.39,0.27,,0.284580(N),1.000(P),"1.27,1.27,1.27,1.27,1.27,1.41,1.27(T,T,T,T,T,T,T)",0.0000(T),0.254,0.400937,4.61,-8.12,-1.155000,-1.758000,-0.776000,0.005000,0.000000,0.000000,14.5694
synonymous_variant,C7orf26,SILENT,NM_024067.2:p.Val358Val/c.1074G>A,gtG/gtA,LOW,COSM453306(2),0.0758786,0.0278,rs34300529,,,,-1.0517(T),,chr7,6639953,6639953,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val358Val/c.1074G>A|449|C7orf26|protein_coding|CODING|NM_024067.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.134,0.1829,0.13,0.04,0.17,,,0.000(P),,0.0002(T),.,1.213517,5.2,4.32,0.555000,1.515000,2.646000,0.995000,1.000000,1.000000,7.4662
synonymous_variant,C7orf26,SILENT,NM_024067.2:p.His432His/c.1296T>C,caT/caC,LOW,COSM4162365(2),0.754193,0.5248,rs4416743,,,,,,chr7,6647738,6647738,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His432His/c.1296T>C|449|C7orf26|protein_coding|CODING|NM_024067.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5112,0.8314,0.8658,0.90,0.96,0.87,,,,,,,,,,,,,,,,
missense_variant,ZNF853,MISSENSE,NM_017560.1:p.Gly8Arg/c.22G>A,Ggg/Agg,MODERATE,COSM1568897(3),0.741214,0.753,rs2243563,,,,,,chr7,6656830,6656830,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly8Arg/c.22G>A|659|ZNF853|protein_coding|CODING|NM_017560.1|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.864,0.683,0.5427,0.62,0.78,0.55,,,,,,,,,,,,,,,,
missense_variant,ZNF853,MISSENSE,NM_017560.1:p.Gln30Arg/c.89A>G,cAa/cGa,MODERATE,COSM3833104(2),0.771765,0.7609,rs1806552,,,,,,chr7,6656897,6656897,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln30Arg/c.89A>G|659|ZNF853|protein_coding|CODING|NM_017560.1|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.863,0.6931,0.5437,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF853,SILENT,NM_017560.1:p.Leu659Leu/c.1977G>T,ctG/ctT,LOW,COSM4162370(2),0.0177716,0,rs138360276,,,,,,chr7,6662599,6662599,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu659Leu/c.1977G>T|659|ZNF853|protein_coding|CODING|NM_017560.1|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.0215,0.036,0.0427,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF12,MISSENSE,NM_016265.3:p.Gln301Glu/c.901C>G,Cag/Gag,MODERATE,,0.0185703,0,rs61731528,1(T),"0.475,0.004(P,B)",-0.33(N),-0.9451(T),,chr7,6731672,6731672,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln263Glu/c.787C>G|659|ZNF12|protein_coding|CODING|NM_006956.2|6|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln301Glu/c.901C>G|697|ZNF12|protein_coding|CODING|NM_016265.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0215,0.036,0.0427,0.03,0.01,0.03,,0.113860(N),1.000(N),"5.69,5.69,5.69(T,T,T)",0.0003(T),0.105,0.962772,4.03,-0.0473,0.563000,-0.016000,-0.485000,0.993000,0.030000,0.000000,10.7549
missense_variant,COL28A1,MISSENSE,NM_001037763.2:p.Gly383Arg/c.1147G>C,Ggt/Cgt,MODERATE,,0.000798722,0,rs200547651,0.01(D),"1.0,0.976(D,D)",4.37(H),1.0055(D),,chr7,7529037,7529037,C,G,het,missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly383Arg/c.1147G>C|1125|COL28A1|protein_coding|CODING|NM_001037763.2|13|1),,,,,0,0.0014,0.003,0.00,0.00,0.00,,0.000007(U),0.990(D),-6.29(D),0.9905(D),0.905,3.185286,4.43,3.52,0.650000,1.202000,2.244000,0.989000,0.998000,1.000000,10.336
missense_variant,COL28A1,MISSENSE,NM_001037763.2:p.Ala189Gly/c.566C>G,gCa/gGa,MODERATE,,0.953874,0.999,rs7804532,1(T),0.0(B),-1.78(N),-0.9310(T),,chr7,7571094,7571094,G,C,hom,missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala189Gly/c.566C>G|1125|COL28A1|protein_coding|CODING|NM_001037763.2|3|1),HUVEC:H3K27me3,,,,0.9755,0.9625,0.9433,0.94,0.91,0.95,,0.004612(N),0.996(P),-0.56(T),0.0000(T),0.159,-0.989780,4.2,4.2,-0.120000,1.149000,3.422000,0.149000,1.000000,1.000000,14.1469
synonymous_variant,MIOS,SILENT,NM_019005.3:p.Ser852Ser/c.2556G>T,tcG/tcT,LOW,,0.989417,1,rs7806046,,,,,,chr7,7646651,7646651,G,T,hom,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser852Ser/c.2556G>T|875|MIOS|protein_coding|CODING|NM_019005.3|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9857,0.987,0.9702,0.98,0.99,0.98,,,,,,,,,,,,,,,,
synonymous_variant,MIOS,SILENT,NM_019005.3:p.Thr864Thr/c.2592A>G,acA/acG,LOW,,0.691294,0.7381,rs386591736,,,,,,chr7,7646687,7646687,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr864Thr/c.2592A>G|875|MIOS|protein_coding|CODING|NM_019005.3|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6656,0.7954,0.7734,0.73,0.62,0.79,,,,,,,,,,,,,,,,
synonymous_variant,GLCCI1,SILENT,NM_138426.3:p.Ser480Ser/c.1440C>T,tcC/tcT,LOW,COSM150237(2),0.747604,0.7312,rs929509,,,,,,chr7,8125964,8125964,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser480Ser/c.1440C>T|547|GLCCI1|protein_coding|CODING|NM_138426.3|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6677,0.7507,0.666,0.75,0.86,0.69,,,,,,,,,,,,,,,,
synonymous_variant,NXPH1,SILENT,NM_152745.2:p.Leu133Leu/c.399G>A,ctG/ctA,LOW,,0.00279553,0,rs118084454,,,,,,chr7,8790982,8790982,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu133Leu/c.399G>A|271|NXPH1|protein_coding|CODING|NM_152745.2|3|1),K562:H3K4me1,,,,0,0.0058,0.008,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,PHF14,MISSENSE,NM_014660.3:p.Lys115Arg/c.344A>G,aAg/aGg,MODERATE,COSM3723031(1),0.624201,0.4831,rs111034128,0.19(T),"0.0,0.0(B,B)",0.345(N),-0.9766(T),,chr7,11022230,11022230,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys115Arg/c.344A>G|888|PHF14|protein_coding|CODING|NM_014660.3|3|1),intron_variant(MODIFIER|||n.564+7658A>G||PHF14||CODING|NR_033435.1|2|1),intron_variant(MODIFIER|||n.564+7658A>G||PHF14||CODING|NR_033436.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.562,0.6581,0.70,0.78,0.66,,0.149898(N),0.000(P),-0.22(T),0.0000(T),0.04,0.810894,5.11,3.96,0.477000,0.969000,3.987000,0.975000,1.000000,1.000000,10.3673
synonymous_variant,PHF14,SILENT,NM_014660.3:p.Ala226Ala/c.678G>A,gcG/gcA,LOW,COSM4004251(1),0.637979,0.4831,rs218965,,,,,,chr7,11022564,11022564,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala226Ala/c.678G>A|888|PHF14|protein_coding|CODING|NM_014660.3|3|1),intron_variant(MODIFIER|||n.565-7766G>A||PHF14||CODING|NR_033435.1|2|1),intron_variant(MODIFIER|||n.565-7766G>A||PHF14||CODING|NR_033436.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5521,0.5663,0.6581,0.70,0.81,0.65,,,,,,,,,,,,,,,,
missense_variant,THSD7A,MISSENSE,NM_015204.2:p.Asn583Asp/c.1747A>G,Aac/Gac,MODERATE,,0.829273,0.7649,rs47,0.63(T),0.0(B),-1.24(N),-0.9649(T),,chr7,11581121,11581121,T,C,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn583Asp/c.1747A>G|1657|THSD7A|protein_coding|CODING|NM_015204.2|6|1),,,,,0.7178,0.8703,0.7674,0.82,0.95,0.76,,0.000003(N),1.000(P),0.39(T),0.0000(T),0.024,1.975602,5.63,4.7,-0.119000,1.521000,1.496000,0.917000,1.000000,0.953000,11.4606
synonymous_variant,THSD7A,SILENT,NM_015204.2:p.Ala578Ala/c.1734A>G,gcA/gcG,LOW,,0.471645,0.5387,rs2074603,,,,,,chr7,11581134,11581134,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala578Ala/c.1734A>G|1657|THSD7A|protein_coding|CODING|NM_015204.2|6|1),,,,,0.4928,0.3775,0.4245,0.43,0.46,0.42,,,,,,,,,,,,,,,,
synonymous_variant,THSD7A,SILENT,NM_015204.2:p.Pro134Pro/c.402C>T,ccC/ccT,LOW,,0.266573,0.2837,rs2074598,,,,,,chr7,11676377,11676377,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro134Pro/c.402C>T|1657|THSD7A|protein_coding|CODING|NM_015204.2|2|1),HUVEC:H3K36me3,,,,0.3548,0.33,0.2535,0.22,0.15,0.25,,,,,,,,,,,,,,,,
missense_variant,TMEM106B,MISSENSE,NM_001134232.1:p.Thr185Ser/c.554C>G,aCc/aGc,MODERATE,COSM1178511(1),0.595048,0.6508,rs3173615,0.06(T),0.017(B),1.59(L),-0.9673(T),,chr7,12269417,12269417,C,G,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr185Ser/c.554C>G|274|TMEM106B|protein_coding|CODING|NM_001134232.1|5|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr185Ser/c.554C>G|274|TMEM106B|protein_coding|CODING|NM_018374.3|6|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6391,0.5692,0.4016,0.50,0.66,0.42,,0.000000(D),0.001(P),"1.95,1.95(T,T)",0.0000(T),0.14,2.557596,5.36,5.36,0.655000,2.689000,5.898000,0.972000,0.998000,1.000000,12.7762
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Phe1485Cys/c.4454T>G,tTc/tGc,MODERATE,,0.698283,0.6151,rs2192828,1(T),0.0(B),-4.73(N),-0.8808(T),,chr7,12376811,12376811,A,C,het,missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe1485Cys/c.4454T>G|1590|VWDE|protein_coding|CODING|NM_001135924.1|25|1),"H1ESC:H3K36me3,K562:H3K36me3",,,,0.5613,0.7017,0.5885,0.66,0.88,0.57,,0.000000(N),0.899(P),0.37(T),0.0000(T),0.094,0.492883,4.86,4.86,-0.127000,1.281000,5.640000,0.980000,1.000000,1.000000,14.8064
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Gln1256Lys/c.3766C>A,Caa/Aaa,MODERATE,COSM3738203(1),0.626797,0.5942,rs6967385,0.95(T),0.0(B),-0.515(N),-0.9549(T),,chr7,12391319,12391319,G,T,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln1256Lys/c.3766C>A|1590|VWDE|protein_coding|CODING|NM_001135924.1|19|1),"H1ESC:H3K36me3,K562:H3K36me3",Response_to_taxane_treatment_placlitaxel,,,0.5,0.5893,0.4125,,,,,0.470136(N),1.000(P),-0.17(T),0.0000(T),0.075,-1.919281,3.06,-1.11,-1.202000,-0.579000,-0.133000,0.006000,0.001000,0.003000,0.5757
synonymous_variant,VWDE,SILENT,NM_001135924.1:p.Gln1223Gln/c.3669A>G,caA/caG,LOW,,0.770767,0.8065,rs2119141,,,,,,chr7,12395813,12395813,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln1223Gln/c.3669A>G|1590|VWDE|protein_coding|CODING|NM_001135924.1|18|1),"H1ESC:H3K36me3,K562:H3K36me3",,,,0.8303,0.7939,0.7316,0.74,0.74,0.74,,,,,,,,,,,,,,,,
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Thr1032Met/c.3095C>T,aCg/aTg,MODERATE,COSM4161751(1),0.764577,0.7222,rs2053380,1(T),0.0(B),-1.79(N),-0.9453(T),,chr7,12400837,12400837,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1032Met/c.3095C>T|1590|VWDE|protein_coding|CODING|NM_001135924.1|15|1),K562:H3K36me3,,,,0.8436,0.5504,0.6938,0.77,0.87,0.72,,0.005949(N),1.000(P),-1.53(D),0.0000(T),0.044,-0.292704,4.27,3.11,-0.254000,0.288000,5.010000,0.850000,0.268000,1.000000,8.143
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Lys964Asn/c.2892G>C,aaG/aaC,MODERATE,COSM1137630(1),0.521765,0.506,rs6460939,0.19(T),0.879(P),1.61(L),-0.9027(T),,chr7,12406989,12406989,C,G,het,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys964Asn/c.2892G>C|1590|VWDE|protein_coding|CODING|NM_001135924.1|13|1),K562:H3K36me3,,,,0.6524,0.366,0.4523,0.49,0.54,0.48,,0.002069(N),1.000(P),-1.63(D),0.0000(T),0.028,1.891099,3.71,0.145,-0.471000,0.166000,0.222000,0.667000,0.975000,0.631000,8.2167
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Ser607Phe/c.1820C>T,tCt/tTt,MODERATE,COSM3762355(2),0.779952,0.8155,rs963323,1(T),0.0(B),-2.42(N),-0.9479(T),,chr7,12410112,12410112,G,A,hom,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser607Phe/c.1820C>T|1590|VWDE|protein_coding|CODING|NM_001135924.1|12|1),"H1ESC:H3K36me3,K562:H3K36me3",,,,0.7587,0.853,0.8221,0.81,0.70,0.86,,,0.999(P),-1.37(T),0.0000(T),0.135,-0.975793,4.56,3.38,-0.381000,0.260000,5.672000,0.719000,1.000000,1.000000,6.5603
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Gly340Asp/c.1019G>A,gGt/gAt,MODERATE,COSM1137631(1),0.853435,0.9276,rs7793993,1(T),0.0(B),-1.445(N),-0.9544(T),,chr7,12417407,12417407,C,T,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly340Asp/c.1019G>A|1590|VWDE|protein_coding|CODING|NM_001135924.1|7|1),"H1ESC:H3K36me3,K562:H3K36me3",,,,0.8834,0.8127,0.6928,0.77,0.89,0.72,,,1.000(P),-1.41(T),0.0000(T),0.066,-0.638528,4.68,4.68,-0.340000,0.951000,3.625000,0.649000,0.989000,0.999000,10.682
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Phe292Ile/c.874T>A,Ttt/Att,MODERATE,COSM1137632(2),0.609824,0.5923,rs6967241,1(T),0.0(B),-2.135(N),-0.9266(T),,chr7,12419108,12419108,A,T,het,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe292Ile/c.874T>A|1590|VWDE|protein_coding|CODING|NM_001135924.1|6|1),"H1ESC:H3K36me3,K562:H3K36me3",,,,0.6616,0.5288,0.6819,0.67,0.57,0.72,,,1.000(P),-1.09(T),0.0000(T),0.088,0.556131,4.61,4.61,-0.257000,0.799000,4.088000,0.934000,1.000000,1.000000,10.7397
missense_variant,VWDE,MISSENSE,NM_001135924.1:p.Ser142Phe/c.425C>T,tCt/tTt,MODERATE,,0.687101,0.6171,rs848016,1(T),0.0(B),-2.23(N),-0.9639(T),,chr7,12428803,12428803,G,A,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser142Phe/c.425C>T|1590|VWDE|protein_coding|CODING|NM_001135924.1|3|1),"NHEK:CTCF,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,K562:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HMEC:CTCF,NH-A:CTCF,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HMEC:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.5736,0.6758,0.5537,0.64,0.88,0.54,,0.055898(N),1.000(P),-0.08(T),0.0000(T),0.074,-2.132119,4.68,3.5,-0.360000,0.369000,1.711000,0.300000,0.358000,0.940000,6.8821
missense_variant,ETV1,MISSENSE,NM_004956.4:p.Ser100Gly/c.298A>G,Agc/Ggc,MODERATE,COSM1582995(3),0.319289,0.4187,rs9639168,0.6(T),"0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",0.49(N),-0.9066(T),,chr7,13978809,13978809,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser100Gly/c.298A>G|454|ETV1|protein_coding|CODING|NM_001163147.1|6|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser82Gly/c.244A>G|459|ETV1|protein_coding|CODING|NM_001163148.1|6|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser82Gly/c.244A>G|459|ETV1|protein_coding|CODING|NM_001163149.1|5|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser60Gly/c.178A>G|437|ETV1|protein_coding|CODING|NM_001163150.1|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser42Gly/c.124A>G|419|ETV1|protein_coding|CODING|NM_001163151.1|2|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser60Gly/c.178A>G|374|ETV1|protein_coding|CODING|NM_001163152.1|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser100Gly/c.298A>G|477|ETV1|protein_coding|CODING|NM_004956.4|7|1),non_coding_exon_variant(MODIFIER|||n.732A>G||ETV1||CODING|NR_120445.1|7|1)",,,,,0.3609,0.3458,0.3439,0.29,0.19,0.34,,0.000255(N),1.000(P),"1.96,1.96,1.96,1.96,1.96,1.96,1.96,1.96,1.96,1.96,1.96,1.96,1.96(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.387,1.242238,5.45,4.57,-0.119000,0.791000,0.877000,0.987000,0.998000,0.980000,8.696
synonymous_variant,DGKB,SILENT,NM_004080.2:p.Arg120Arg/c.360G>A,cgG/cgA,LOW,COSM3762464(1),0.50599,0.8819,rs1997040,,,,,,chr7,14758273,14758273,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg120Arg/c.360G>A|804|DGKB|protein_coding|CODING|NM_004080.2|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg120Arg/c.360G>A|773|DGKB|protein_coding|CODING|NM_145695.2|5|1)",,,,,0.6145,0.5893,0.4384,0.38,0.21,0.45,,,,,,,,,,,,,,,,
synonymous_variant,ANKMY2,SILENT,NM_020319.2:p.Thr171Thr/c.513G>A,acG/acA,LOW,COSM4004398(1),0.176318,0.2173,rs11540037,,,,,,chr7,16655387,16655387,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr171Thr/c.513G>A|441|ANKMY2|protein_coding|CODING|NM_020319.2|5|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2689,0.1657,0.1948,0.17,0.10,0.21,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN13,SILENT,NM_014399.3:p.Ala198Ala/c.594G>A,gcG/gcA,LOW,COSM150239(2),0.420527,0.2996,rs11491,,,,,,chr7,16823095,16823095,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala198Ala/c.594G>A|204|TSPAN13|protein_coding|CODING|NM_014399.3|6|1),K562:H3K36me3,,,,0.4939,0.5245,0.5497,0.47,0.32,0.55,,,,,,,,,,,,,,,,
synonymous_variant,AGR2,SILENT,NM_006408.3:p.Asn147Asn/c.441T>C,aaT/aaC,LOW,COSM3762550(1),0.335463,0.2976,rs6842,,,,,,chr7,16834597,16834597,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn147Asn/c.441T>C|175|AGR2|protein_coding|CODING|NM_006408.3|7|1),HUVEC:H3K27me3,,,,0.4366,0.4957,0.4672,0.38,0.17,0.50,,,,,,,,,,,,,,,,
synonymous_variant,SNX13,SILENT,NM_015132.4:p.Pro663Pro/c.1989C>A,ccC/ccA,LOW,COSM3928033(1),0.697684,0.7192,rs2723501,,,,,,chr7,17854532,17854532,G,T,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro663Pro/c.1989C>A|957|SNX13|protein_coding|CODING|NM_015132.4|20|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3",,,,0.7096,0.5807,0.5239,0.61,0.78,0.53,,,,,,,,,,,,,,,,
missense_variant,PRPS1L1,MISSENSE,NM_175886.2:p.Glu279Asp/c.837G>T,gaG/gaT,MODERATE,COSM3762552(1),0.264776,0.1548,rs3800962,1(T),0.001(B),0.31(N),-1.0225(T),,chr7,18066569,18066569,C,A,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu279Asp/c.837G>T|318|PRPS1L1|protein_coding|CODING|NM_175886.2|1|1|WARNING_TRANSCRIPT_NO_START_CODON),,,,,0.2188,0.3977,0.4165,0.36,0.23,0.42,,,,-0.61(T),0.0000(T),0.023,-0.832338,4.44,-2.11,-0.264000,-0.531000,0.374000,0.801000,0.965000,0.993000,7.6097
synonymous_variant,HDAC9,SILENT,NM_178425.2:p.Pro624Pro/c.1872A>G,ccA/ccG,LOW,,0.329872,0.5159,rs1178127,,,,,,chr7,18767343,18767343,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro621Pro/c.1863A>G|1011|HDAC9|protein_coding|CODING|NM_058176.2|12|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro621Pro/c.1863A>G|1066|HDAC9|protein_coding|CODING|NM_178423.1|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro624Pro/c.1872A>G|1069|HDAC9|protein_coding|CODING|NM_178425.2|12|1)",NHEK:H3K36me3,,,,0.3926,0.2997,0.2565,0.24,0.20,0.25,,,,,,,,,,,,,,,,
synonymous_variant,HDAC9,SILENT,NM_058176.2:p.Phe1010Phe/c.3030C>T,ttC/ttT,LOW,,0.773562,0.7302,rs2389998,,,,,,chr7,18993870,18993870,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1010Phe/c.3030C>T|1011|HDAC9|protein_coding|CODING|NM_058176.2|23|1),intron_variant(MODIFIER|||c.3013+17C>T|1066|HDAC9|protein_coding|CODING|NM_178423.1|24|1),intron_variant(MODIFIER|||c.3022+17C>T|1069|HDAC9|protein_coding|CODING|NM_178425.2|23|1)",,,,,0.7628,0.8184,0.7714,0.77,0.81,0.75,,,,,,,,,,,,,,,,
missense_variant,MACC1,MISSENSE,NM_182762.3:p.Arg804Thr/c.2411G>C,aGa/aCa,MODERATE,COSM1180584(1),0.603435,0.8194,rs3735615,0.02(D),0.922(D),2.545(M),-1.0754(T),,chr7,20180717,20180717,C,G,hom,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg804Thr/c.2411G>C|852|MACC1|protein_coding|CODING|NM_182762.3|7|1),upstream_gene_variant(MODIFIER||822|||MACC1-AS1||NON_CODING|NR_046756.1||1),upstream_gene_variant(MODIFIER||668|||LOC101927668||NON_CODING|NR_110114.1||1)","GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.5764,0.5815,0.52,0.41,0.58,,0.000002(D),0.000(P),"1.18,1.18(T,T)",0.0000(T),0.425,3.983394,5.74,4.87,0.655000,1.426000,3.200000,0.821000,1.000000,1.000000,14.8695
missense_variant,MACC1,MISSENSE,NM_182762.3:p.Ser515Leu/c.1544C>T,tCg/tTg,MODERATE,COSM3762560(1),0.425519,0.7837,rs386624663,0.76(T),0.003(B),2.215(M),-1.0087(T),,chr7,20198440,20198440,G,A,het,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser515Leu/c.1544C>T|852|MACC1|protein_coding|CODING|NM_182762.3|5|1),"NHEK:CTCF,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:CTCF,GM12878:CTCF,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,GM06990:H3K36me3,GM06990:CTCF",,,,0.5102,0.3256,0.2445,0.26,0.29,0.24,,0.114325(N),1.000(P),"2.85,2.85(T,T)",0.0000(T),0.04,-0.490207,5.93,5.05,0.655000,1.510000,2.152000,0.895000,0.010000,0.076000,9.7127
synonymous_variant,ITGB8,SILENT,NM_002214.2:p.Ala131Ala/c.393C>T,gcC/gcT,LOW,COSM3762561(1),0.160343,0.4107,rs3735619,,,,,,chr7,20418678,20418678,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala131Ala/c.393C>T|769|ITGB8|protein_coding|CODING|NM_002214.2|4|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1084,0.072,0.1004,0.10,0.11,0.10,,,,,,,,,,,,,,,,
synonymous_variant,ITGB8,SILENT,NM_002214.2:p.Tyr314Tyr/c.942T>C,taT/taC,LOW,COSM150245(1),0.336861,0.4097,rs2230398,,,,,,chr7,20421490,20421490,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr314Tyr/c.942T>C|769|ITGB8|protein_coding|CODING|NM_002214.2|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2065,0.2579,0.4493,0.41,0.36,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ABCB5,SILENT,NM_001163941.1:p.Val209Val/c.627G>T,gtG/gtT,LOW,,0.0449281,0,rs7349983,,,,,,chr7,20683204,20683204,G,T,het,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val209Val/c.627G>T|1257|ABCB5|protein_coding|CODING|NM_001163941.1|7|1),,,,,0.0297,0.0576,0.1441,0.10,0.03,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ABCB5,SILENT,NM_001163941.1:p.Ser335Ser/c.1005C>T,agC/agT,LOW,,0.219449,0.0407,rs2893006,,,,,,chr7,20687181,20687181,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser335Ser/c.1005C>T|1257|ABCB5|protein_coding|CODING|NM_001163941.1|10|1),5_prime_UTR_variant(MODIFIER||3865|c.-331C>T|131|ABCB5|protein_coding|CODING|NM_001163942.1|1|1),5_prime_UTR_variant(MODIFIER||3865|c.-331C>T|126|ABCB5|protein_coding|CODING|NM_001163993.2|1|1),5_prime_UTR_variant(MODIFIER||3865|c.-331C>T|812|ABCB5|protein_coding|CODING|NM_178559.5|1|1)","HUVEC:H3K27me3,H1ESC:H3K27me3",,,,0.2117,0.1671,0.2068,0.26,0.38,0.21,,,,,,,,,,,,,,,,
missense_variant,ABCB5,MISSENSE,NM_001163941.1:p.Asp370Gly/c.1109A>G,gAt/gGt,MODERATE,,0.0451278,0,rs61732039,0.01(D),0.998(D),2.64(M),-0.8233(T),,chr7,20687604,20687604,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp370Gly/c.1109A>G|1257|ABCB5|protein_coding|CODING|NM_001163941.1|11|1),5_prime_UTR_variant(MODIFIER||3442|c.-227A>G|131|ABCB5|protein_coding|CODING|NM_001163942.1|2|1),5_prime_UTR_variant(MODIFIER||3442|c.-227A>G|126|ABCB5|protein_coding|CODING|NM_001163993.2|2|1),5_prime_UTR_variant(MODIFIER||3442|c.-227A>G|812|ABCB5|protein_coding|CODING|NM_178559.5|2|1)","HUVEC:H3K27me3,H1ESC:H3K27me3",,,,0.0297,0.0591,0.1441,0.10,0.03,0.13,,,1.000(D),-2.4(D),0.0322(T),0.091,3.553314,5.3,4.15,0.533000,1.108000,6.314000,0.674000,1.000000,1.000000,10.3928
start_lost,ABCB5,MISSENSE,NM_178559.5:p.Met1?/c.2T>C,aTg/aCg,HIGH,,0.101637,0.0397,rs34603556,0(D),"0.119,0.0,0.0,0.125(B,B,B,B)",,-0.9770(T),ABCB5:0.75(4);,chr7,20691047,20691047,T,C,het,"start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|131|ABCB5|protein_coding|CODING|NM_001163942.1|4|1),start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|126|ABCB5|protein_coding|CODING|NM_001163993.2|4|1),start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|812|ABCB5|protein_coding|CODING|NM_178559.5|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met446Thr/c.1337T>C|1257|ABCB5|protein_coding|CODING|NM_001163941.1|13|1)",HUVEC:H3K27me3,,,,0.1616,0.0937,0.2068,0.15,0.06,0.20,,0.229369(U),0.000(P),"-3.13,-2.83,-2.82,-2.09(D,D,D,D)",0.0013(T),0.075,-0.052773,4.2,0.375,-0.930000,-0.134000,0.188000,0.016000,0.042000,0.006000,9.2879
synonymous_variant,ABCB5,SILENT,NM_001163941.1:p.Ala503Ala/c.1509G>A,gcG/gcA,LOW,,0.0507188,0,rs61227829,,,,,,chr7,20691219,20691219,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala503Ala/c.1509G>A|1257|ABCB5|protein_coding|CODING|NM_001163941.1|13|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala58Ala/c.174G>A|131|ABCB5|protein_coding|CODING|NM_001163942.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala58Ala/c.174G>A|126|ABCB5|protein_coding|CODING|NM_001163993.2|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala58Ala/c.174G>A|812|ABCB5|protein_coding|CODING|NM_178559.5|4|1)",HUVEC:H3K27me3,,,,0.0297,0.062,0.1441,0.10,0.04,0.13,,,,,,,,,,,,,,,,
missense_variant,ABCB5,MISSENSE,NM_001163941.1:p.Lys560Glu/c.1678A>G,Aag/Gag,MODERATE,COSM4162083(1),0.363818,0.2024,rs2301641,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.635(N),-0.9430(T),,chr7,20698270,20698270,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys560Glu/c.1678A>G|1257|ABCB5|protein_coding|CODING|NM_001163941.1|14|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys115Glu/c.343A>G|131|ABCB5|protein_coding|CODING|NM_001163942.1|5|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys115Glu/c.343A>G|126|ABCB5|protein_coding|CODING|NM_001163993.2|5|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys115Glu/c.343A>G|812|ABCB5|protein_coding|CODING|NM_178559.5|5|1)",GM12878:H3K36me3,,,,0.3057,0.3127,0.328,0.40,0.56,0.32,,0.000011(N),0.997(P),"-0.33,-2.19,-2.19,-0.33(T,D,D,T)",0.0000(T),0.158,-0.521441,5.58,4.69,-0.128000,1.511000,6.508000,0.006000,0.610000,1.000000,12.5024
missense_variant,ABCB5,MISSENSE,NM_001163941.1:p.Gly810Val/c.2429G>T,gGt/gTt,MODERATE,COSM3762562(1),0.232228,0.1855,rs62453384,0(D),"0.994,0.992(D,D)",3.195(M),-1.5246(T),,chr7,20762646,20762646,G,T,hom,"missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly810Val/c.2429G>T|1257|ABCB5|protein_coding|CODING|NM_001163941.1|21|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly365Val/c.1094G>T|812|ABCB5|protein_coding|CODING|NM_178559.5|12|1)","HMEC:DNase1,NHEK:DNase1",,,,0.3344,0.1945,0.3608,0.30,0.14,0.38,,0.009703(N),0.000(P),"-2.75,-2.75(D,D)",0.0000(T),0.424,3.371456,4.75,3.84,0.655000,1.318000,3.961000,0.883000,1.000000,1.000000,12.6345
missense_variant,ABCB5,MISSENSE,NM_001163941.1:p.Glu970Lys/c.2908G>A,Gaa/Aaa,MODERATE,,0.756789,0.8214,rs6461515,0.14(T),0.046(B),1.04(L),-0.9747(T),,chr7,20778646,20778646,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu970Lys/c.2908G>A|1257|ABCB5|protein_coding|CODING|NM_001163941.1|24|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu525Lys/c.1573G>A|812|ABCB5|protein_coding|CODING|NM_178559.5|15|1)",,,,,0.7086,0.8573,0.8241,0.77,0.67,0.83,,0.003027(N),0.000(P),"-1.36,-1.36(T,T)",0.0000(T),0.191,1.643741,4.99,4.11,0.484000,1.490000,0.885000,0.525000,1.000000,0.922000,7.6846
synonymous_variant,SP8,SILENT,NM_182700.5:p.Ser274Ser/c.822G>A,tcG/tcA,LOW,COSM3762569(6),0.269768,0.3958,rs34908430,,,,,,chr7,20824614,20824614,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser274Ser/c.822G>A|508|SP8|protein_coding|CODING|NM_182700.5|2|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser256Ser/c.768G>A|490|SP8|protein_coding|CODING|NM_198956.3|3|1)","NHEK:CTCF,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,0.3211,0.379,0.2893,0.19,0.09,0.25,,,,,,,,,,,,,,,,
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Thr18Thr/c.54C>T,acC/acT,LOW,,0.0613019,0.0546,rs2285942,,,,,,chr7,21582917,21582917,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr18Thr/c.54C>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|1|1),"GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,H1ESC:CTCF",,,,0.0532,0.0749,0.1362,0.08,0.03,0.11,,,,,,,,,,,,,,,,
stop_gained,DNAH11,NONSENSE,NM_001277115.1:p.Glu34*/c.100G>T,Gag/Tag,HIGH,COSM3762574(1),0.411941,0.254,rs2285943,0.76(T),,,,DNAH11:1.00(1);DNAH11:1.00(1);,chr7,21582963,21582963,G,T,het,stop_gained(HIGH|NONSENSE|Gag/Tag|p.Glu34*/c.100G>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|1|1),"GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,H1ESC:CTCF",,RCV000079613.1,,0.4796,0.3833,0.4901,0.43,0.38,0.45,,0.000000(N),0.000(P),,,.,4.735670,3.46,3.46,0.563000,2.245000,4.067000,0.366000,0.076000,0.366000,10.7152
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Glu34Val/c.101A>T,gAg/gTg,MODERATE,COSM3762576(1),0.411941,0.254,rs2285944,0.23(T),0.404(B),0(N),-0.9546(T),,chr7,21582964,21582964,A,T,het,missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu34Val/c.101A>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|1|1),"GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,H1ESC:CTCF",,RCV000079615.1,,0.4796,0.3833,0.4901,0.43,0.38,0.45,,0.000000(N),1.000(P),2.17(T),0.0000(T),0.378,1.875781,3.46,2.29,0.460000,0.701000,0.685000,0.375000,0.062000,0.171000,5.5536
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Asn235Asn/c.705C>T,aaC/aaT,LOW,COSM3762579(3),0.542931,0.7183,rs10950854,,,,,,chr7,21599233,21599233,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn235Asn/c.705C>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|4|1),HUVEC:H3K27me3,,RCV000079625.1,,0.5583,0.402,0.4264,0.45,0.53,0.42,,,,,,,,,,,,,,,,
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Phe652Phe/c.1956C>T,ttC/ttT,LOW,,0.990615,1,rs6963535,,,,,,chr7,21628237,21628237,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe652Phe/c.1956C>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|11|1),HUVEC:H3K27me3,,,,0.9775,0.9928,0.9871,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Ala818Ala/c.2454A>G,gcA/gcG,LOW,COSM4004408(2),0.530351,0.749,rs4615458,,,,,,chr7,21630982,21630982,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala818Ala/c.2454A>G|4516|DNAH11|protein_coding|CODING|NM_001277115.1|14|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3",,RCV000079616.1,,0.4581,0.3977,0.4006,0.43,0.52,0.39,,,,,,,,,,,,,,,,
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Glu1015Asp/c.3045G>T,gaG/gaT,MODERATE,,0.000199681,0,rs72657303,0.52(T),0.395(B),,-1.0428(T),,chr7,21640338,21640338,G,T,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1015Asp/c.3045G>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|16|1),HUVEC:H3K27me3,,,,0,0,0.001,0.00,0.00,0.01,,0.009087(N),0.818(D),1.87(T),0.0324(T),0.15,1.198753,5.63,4.75,0.558000,1.408000,1.819000,0.691000,1.000000,1.000000,9.9057
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Val1023Ala/c.3068T>C,gTc/gCc,MODERATE,,0.220447,0.0198,rs10269582,0.93(T),0.012(B),,-0.9619(T),,chr7,21640361,21640361,T,C,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val1023Ala/c.3068T>C|4516|DNAH11|protein_coding|CODING|NM_001277115.1|16|1),HUVEC:H3K27me3,,,,0.2464,0.3112,0.4274,0.35,0.18,0.43,,0.001307(N),0.085(P),1.97(T),0.0000(T),0.168,-1.708807,5.63,4.49,0.456000,2.161000,2.368000,0.029000,0.957000,1.000000,10.7891
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Thr1038Ala/c.3112A>G,Act/Gct,MODERATE,COSM4004409(1),0.767772,0.8056,rs10224537,0.61(T),0.0(B),,-1.0400(T),,chr7,21640405,21640405,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr1038Ala/c.3112A>G|4516|DNAH11|protein_coding|CODING|NM_001277115.1|16|1),HUVEC:H3K27me3,,,,0.7249,0.7046,0.8191,0.82,0.77,0.84,,0.098454(N),1.000(P),2.01(T),0.0000(T),0.104,-0.112863,5.67,3.64,-0.213000,0.721000,0.941000,0.460000,0.427000,0.003000,9.4206
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Gln1210Gln/c.3630G>A,caG/caA,LOW,,0.753794,0.7827,rs3827657,,,,,,chr7,21641218,21641218,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1210Gln/c.3630G>A|4516|DNAH11|protein_coding|CODING|NM_001277115.1|18|1),HUVEC:H3K27me3,,,,0.7076,0.6916,0.8111,0.80,0.75,0.83,,,,,,,,,,,,,,,,
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Ile1483Ile/c.4449T>C,atT/atC,LOW,COSM3762585(1),0.423323,0.6954,rs56029521,,,,,,chr7,21659645,21659645,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1483Ile/c.4449T>C|4516|DNAH11|protein_coding|CODING|NM_001277115.1|25|1),,,RCV000079622.1,,0.3272,0.3127,0.4066,0.40,0.37,0.41,,,,,,,,,,,,,,,,
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Phe2430Phe/c.7290C>T,ttC/ttT,LOW,COSM3762586(1),0.362819,0.2004,rs12536928,,,,,,chr7,21765452,21765452,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe2430Phe/c.7290C>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|45|1),,,RCV000079626.1,,0.4765,0.4409,0.496,0.44,0.28,0.51,,,,,,,,,,,,,,,,
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Thr2542Thr/c.7626G>A,acG/acA,LOW,,0.755391,0.5327,rs2072221,,,,,,chr7,21775443,21775443,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr2542Thr/c.7626G>A|4516|DNAH11|protein_coding|CODING|NM_001277115.1|46|1),,,,,0.728,0.8689,0.8678,0.86,0.85,0.86,,,,,,,,,,,,,,,,
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.His2592His/c.7776C>T,caC/caT,LOW,COSM1568466(1),0.539537,0.244,rs1109806,,,,,,chr7,21778449,21778449,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His2592His/c.7776C>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|47|1),HeLa-S3:H3K27me3,,,,0.5828,0.5677,0.7048,0.66,0.61,0.69,,,,,,,,,,,,,,,,
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Glu3261Asp/c.9783G>C,gaG/gaC,MODERATE,,,,rs201944089,1(T),0.985(D),,-0.3395(T),,chr7,21827060,21827060,G,C,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu3261Asp/c.9783G>C|4516|DNAH11|protein_coding|CODING|NM_001277115.1|60|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,,,,0.00,0.00,0.00,,0.000000(D),1.000(D),-1.31(T),0.4454(T),0.336,2.880804,5.74,0.158,0.563000,0.041000,0.747000,0.997000,0.998000,1.000000,11.2901
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Ala3467Thr/c.10399G>A,Gcc/Acc,MODERATE,,0.484225,0.8085,rs2214326,0.47(T),0.006(B),,-0.9345(T),,chr7,21856151,21856151,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala3467Thr/c.10399G>A|4516|DNAH11|protein_coding|CODING|NM_001277115.1|64|1),,,,,0.4346,0.4928,0.336,0.35,0.38,0.33,,0.419012(N),1.000(P),1.95(T),0.0000(T),0.04,-1.611138,5.82,-11.6,-3.106000,-2.822000,-0.051000,0.050000,0.001000,0.000000,19.9339
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Val3708Leu/c.11122G>T,Gtg/Ttg,MODERATE,COSM4162090(1),0.459465,0.3304,rs4722064,,,,-0.9760(T),,chr7,21893993,21893993,G,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val3708Leu/c.11122G>T|4516|DNAH11|protein_coding|CODING|NM_001277115.1|68|1),,,,,0.4182,0.5375,0.7087,0.60,0.42,0.68,,,0.000(P),,0.0000(T),.,5.079839,5.69,5.69,0.650000,2.679000,3.870000,0.992000,1.000000,1.000000,18.593
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.His3766His/c.11298T>C,caT/caC,LOW,COSM4004420(2),0.634385,0.5367,rs4722067,,,,-1.0311(T),,chr7,21901566,21901566,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His3766His/c.11298T>C|4516|DNAH11|protein_coding|CODING|NM_001277115.1|69|1),,,,,0.6145,0.6455,0.8211,0.76,0.62,0.82,,,0.001(P),,0.0000(T),.,-1.096077,5.74,-3.01,-1.556000,-1.071000,-2.464000,0.022000,0.001000,0.000000,15.7057
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Met4165Val/c.12493A>G,Atg/Gtg,MODERATE,,0.622404,0.6617,rs6461613,0.09(T),0.268(B),,-1.1471(T),,chr7,21924014,21924014,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met4165Val/c.12493A>G|4516|DNAH11|protein_coding|CODING|NM_001277115.1|76|1),,,,,0.7362,0.634,0.8539,0.72,0.44,0.85,,0.000000(D),0.000(P),3.14(T),0.0000(T),0.165,2.131495,5.7,5.7,0.528000,2.161000,3.699000,0.988000,1.000000,1.000000,12.3835
missense_variant,DNAH11,MISSENSE,NM_001277115.1:p.Ala4315Thr/c.12943G>A,Gca/Aca,MODERATE,,0.0115815,0,rs72658825,0.85(T),0.004(B),,-0.9214(T),,chr7,21934511,21934511,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala4315Thr/c.12943G>A|4516|DNAH11|protein_coding|CODING|NM_001277115.1|79|1),"H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.0174,0.0231,0.0189,0.03,0.01,0.04,,0.083551(N),1.000(N),3.2(T),0.0027(T),0.038,-1.511659,5.62,2.02,-0.471000,0.107000,1.260000,0.371000,0.029000,0.081000,9.5482
synonymous_variant,DNAH11,SILENT,NM_001277115.1:p.Leu4376Leu/c.13128C>A,ctC/ctA,LOW,COSM3927852(5),0.19349,0.1558,rs56333627,,,,,,chr7,21939032,21939032,C,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu4376Leu/c.13128C>A|4516|DNAH11|protein_coding|CODING|NM_001277115.1|80|1),downstream_gene_variant(MODIFIER||1485||420|CDCA7L|protein_coding|CODING|NM_001127370.2||1),downstream_gene_variant(MODIFIER||1485||408|CDCA7L|protein_coding|CODING|NM_001127371.2||1),downstream_gene_variant(MODIFIER||1485||454|CDCA7L|protein_coding|CODING|NM_018719.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2045,0.2795,0.3241,0.25,0.11,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RAPGEF5,SILENT,NM_012294.3:p.Asp289Asp/c.867C>T,gaC/gaT,LOW,COSM4004426(1),0.594249,0.6062,rs12592,,,,,,chr7,22202117,22202117,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp289Asp/c.867C>T|730|RAPGEF5|protein_coding|CODING|NM_012294.3|13|1),HepG2:H3K36me3,,,,0.6145,0.438,0.5557,0.58,0.66,0.55,,,,,,,,,,,,,,,,
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.Lys204Glu/c.610A>G,Aaa/Gaa,MODERATE,COSM3928976(2),0.0603035,0,rs149580813,0.09(T),"0.674,0.393(P,B)",1.765(L),-1.0678(T),,chr7,22532336,22532336,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys204Glu/c.610A>G|342|STEAP1B|protein_coding|CODING|NM_001164460.1|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys185Glu/c.553A>G|245|STEAP1B|protein_coding|CODING|NM_207342.2|4|1)",HUVEC:H3K36me3,,,,0.0266,0.0519,0.0666,,,,,0.201899(U),0.999(P),"2.68,2.81,2.86,2.63(T,T,T,T)",0.0007(T),0.256,2.767068,1.23,1.23,0.102000,0.847000,2.397000,0.370000,0.968000,0.920000,6.6915
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.Arg185Met/c.554G>T,aGg/aTg,MODERATE,COSM1088518(1),0.0603035,0,rs16881812,0(D),"0.999,0.999(D,D)",2.49(M),-0.5774(T),,chr7,22532986,22532986,C,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg166Met/c.497G>T|245|STEAP1B|protein_coding|CODING|NM_207342.2|3|1),missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg185Met/c.554G>T|342|STEAP1B|protein_coding|CODING|NM_001164460.1|3|1)","HUVEC:H3K36me3,NHEK:H3K36me3,HMEC:DNase1",,,,0.0266,0.0519,0.0666,0.10,0.13,0.09,,0.000220(U),0.608(P),"-2.91,-2.91,-2.91,-2.91(D,D,D,D)",0.0539(T),0.288,1.768335,1.23,1.23,0.121000,1.022000,5.802000,0.185000,0.995000,1.000000,8.5117
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.Val141Leu/c.421G>C,Gtt/Ctt,MODERATE,,,,rs200585731,1(T),"0.002,0.0(B,B)",-1.455(N),-0.9096(T),,chr7,22533119,22533119,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val122Leu/c.364G>C|245|STEAP1B|protein_coding|CODING|NM_207342.2|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val141Leu/c.421G>C|342|STEAP1B|protein_coding|CODING|NM_001164460.1|3|1)","HUVEC:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3,HMEC:DNase1",,,,,,,,,,,0.001614(N),0.999(N),"3.64,3.83,3.98,3.83(T,T,T,T)",0.0036(T),0.205,-2.256713,1.06,1.06,-1.976000,0.055000,2.050000,0.071000,0.969000,1.000000,7.0323
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.Met120Val/c.358A>G,Atg/Gtg,MODERATE,,0.0603035,0,rs62619777,0.65(T),"0.008,0.002(B,B)",0.205(N),-0.9785(T),,chr7,22533182,22533182,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met101Val/c.301A>G|245|STEAP1B|protein_coding|CODING|NM_207342.2|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met120Val/c.358A>G|342|STEAP1B|protein_coding|CODING|NM_001164460.1|3|1)","HUVEC:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3",,,,0.0266,0.0519,0.0666,,,,,0.023149(U),1.000(P),"-2.64,-2.64,-2.64,-2.64(D,D,D,D)",0.0097(T),0.319,-1.842652,1.06,-1.75,0.102000,-0.574000,0.180000,0.529000,0.802000,0.982000,6.1797
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.His102Arg/c.305A>G,cAt/cGt,MODERATE,,0.0603035,0,rs62619778,0.53(T),"0.001,0.0(B,B)",0.9(L),-0.9690(T),,chr7,22533235,22533235,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His83Arg/c.248A>G|245|STEAP1B|protein_coding|CODING|NM_207342.2|3|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His102Arg/c.305A>G|342|STEAP1B|protein_coding|CODING|NM_001164460.1|3|1)","HUVEC:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3",,,,0.0266,0.0519,0.0666,,,,,0.298593(U),1.000(P),"2.83,3.01,3.04,2.85(T,T,T,T)",0.0003(T),0.228,-1.542851,1.06,1.06,0.102000,0.759000,1.365000,0.493000,0.996000,0.607000,6.3811
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.Ala64Thr/c.190G>A,Gca/Aca,MODERATE,COSM4162094(1),0.0511182,0,rs146447808,0.29(T),"0.001,0.0(B,B)",-1.61(N),-0.9468(T),,chr7,22533350,22533350,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala45Thr/c.133G>A|245|STEAP1B|protein_coding|CODING|NM_207342.2|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala64Thr/c.190G>A|342|STEAP1B|protein_coding|CODING|NM_001164460.1|3|1)","HUVEC:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3",,,,0.0266,0.0504,0.0666,,,,,0.627012(N),1.000(P),"2.78,2.94,2.99,2.81(T,T,T,T)",0.0004(T),0.135,-0.639187,1.06,-0.194,-1.950000,-0.581000,0.064000,0.015000,0.003000,0.984000,2.3091
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.Gln48Arg/c.143A>G,cAa/cGa,MODERATE,COSM4162097(1),0.0511182,0,rs16881810,0.12(T),"0.004,0.001(B,B)",2.25(M),-1.1029(T),,chr7,22533397,22533397,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln29Arg/c.86A>G|245|STEAP1B|protein_coding|CODING|NM_207342.2|3|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln48Arg/c.143A>G|342|STEAP1B|protein_coding|CODING|NM_001164460.1|3|1),splice_region_variant(LOW|||c.86A>G|245|STEAP1B|protein_coding|CODING|NM_207342.2|3|1)","HUVEC:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3",,,,0.0266,0.0504,0.0666,0.09,0.09,0.09,,0.008349(U),1.000(P),"2.73,2.79,2.89,2.68(T,T,T,T)",0.0016(T),0.214,1.045026,1.06,1.06,0.102000,0.759000,0.226000,0.077000,0.500000,0.486000,6.3811
missense_variant,STEAP1B,MISSENSE,NM_001164460.1:p.Ile7Val/c.19A>G,Atc/Gtc,MODERATE,,0.0509185,0,rs55663310,0.14(T),"0.006,0.002(B,B)",1.655(L),-1.0644(T),,chr7,22534456,22534456,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile7Val/c.19A>G|342|STEAP1B|protein_coding|CODING|NM_001164460.1|2|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile7Val/c.19A>G|245|STEAP1B|protein_coding|CODING|NM_207342.2|2|1)",HUVEC:H3K36me3,,,,0.0266,0.0504,0.0666,0.09,0.09,0.09,,,1.000(P),"2.57,2.87,2.91,2.71(T,T,T,T)",0.0014(T),0.071,1.057071,1.6,1.6,0.102000,0.769000,1.524000,0.173000,0.711000,0.721000,5.3164
synonymous_variant,IGF2BP3,SILENT,NM_006547.2:p.Ala444Ala/c.1332G>A,gcG/gcA,LOW,COSM150250(2),0.244609,0.3671,rs156414,,,,,,chr7,23357321,23357321,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala444Ala/c.1332G>A|579|IGF2BP3|protein_coding|CODING|NM_006547.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.2435,0.3946,0.30,0.08,0.41,,,,,,,,,,,,,,,,
synonymous_variant,STK31,SILENT,NM_031414.4:p.Gln23Gln/c.69A>G,caA/caG,LOW,,0.384984,0.3571,rs7779633,,,,,,chr7,23751736,23751736,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln23Gln/c.69A>G|996|STK31|protein_coding|CODING|NM_001260505.1|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln23Gln/c.69A>G|1019|STK31|protein_coding|CODING|NM_031414.4|2|1),5_prime_UTR_variant(MODIFIER||1|c.-1A>G|996|STK31|protein_coding|CODING|NM_001260504.1|2|1),5_prime_UTR_variant(MODIFIER||1|c.-1A>G|996|STK31|protein_coding|CODING|NM_032944.3|2|1),non_coding_exon_variant(MODIFIER|||n.180A>G||STK31||CODING|NR_048542.1|2|1)",,,,,0.3108,0.353,0.3519,0.38,0.47,0.34,,,,,,,,,,,,,,,,
missense_variant,STK31,MISSENSE,NM_031414.4:p.Gln71His/c.213G>C,caG/caC,MODERATE,COSM3762594(1),,,rs6945306,,,0.345(N),,,chr7,23757162,23757162,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln48His/c.144G>C|996|STK31|protein_coding|CODING|NM_001260504.1|4|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln71His/c.213G>C|996|STK31|protein_coding|CODING|NM_001260505.1|4|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln71His/c.213G>C|1019|STK31|protein_coding|CODING|NM_031414.4|4|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln48His/c.144G>C|996|STK31|protein_coding|CODING|NM_032944.3|4|1),non_coding_exon_variant(MODIFIER|||n.324G>C||STK31||CODING|NR_048542.1|4|1)",,,,,,,,0.25,0.17,0.29,,,1.000(P),,,.,0.224817,5.23,2.95,-0.518000,0.838000,1.356000,0.163000,0.888000,0.998000,6.0676
synonymous_variant,NPY,SILENT,NM_000905.3:p.Ser50Ser/c.150G>A,tcG/tcA,LOW,COSM1450096(2),0.513978,0.6379,rs5573,,,,,,chr7,24325009,24325009,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser50Ser/c.150G>A|97|NPY|protein_coding|CODING|NM_000905.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.501,0.6643,0.507,0.46,0.37,0.50,,,,,,,,,,,,,,,,
synonymous_variant,NPY,SILENT,NM_000905.3:p.Ser68Ser/c.204C>T,tcC/tcT,LOW,COSM3762595(2),0.374201,0.3452,rs386599063,,,,,,chr7,24329133,24329133,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser68Ser/c.204C>T|97|NPY|protein_coding|CODING|NM_000905.3|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.319,0.4308,0.4702,0.43,0.36,0.47,,,,,,,,,,,,,,,,
synonymous_variant,MPP6,SILENT,NM_016447.2:p.Glu247Glu/c.741G>A,gaG/gaA,LOW,,0.645567,0.7996,rs1053962,,,,,,chr7,24703298,24703298,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu247Glu/c.741G>A|540|MPP6|protein_coding|CODING|NM_016447.2|7|1),,,,,0.5716,0.4409,0.3499,0.49,0.81,0.33,,,,,,,,,,,,,,,,
missense_variant,C7orf31,MISSENSE,NM_138811.3:p.His300Arg/c.899A>G,cAt/cGt,MODERATE,,0.545927,0.4732,rs2285738,0.19(T),0.032(B),1.3(L),-1.0744(T),,chr7,25181912,25181912,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His300Arg/c.899A>G|590|C7orf31|protein_coding|CODING|NM_138811.3|9|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.6524,0.6124,0.6769,0.60,0.42,0.68,,0.004179(N),0.803(P),"3.34,3.34(T,T)",0.0000(T),0.111,2.262555,5.78,4.6,0.402000,0.975000,3.591000,0.880000,1.000000,1.000000,10.4479
missense_variant,C7orf31,MISSENSE,NM_138811.3:p.Thr187Ser/c.560C>G,aCc/aGc,MODERATE,COSM4162109(1),0.538339,0.4206,rs2523072,0.77(T),0.922(D),1.725(L),-1.0835(T),,chr7,25194665,25194665,G,C,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr187Ser/c.560C>G|590|C7orf31|protein_coding|CODING|NM_138811.3|6|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.5481,0.5029,0.6093,0.60,0.59,0.61,,0.005170(N),0.695(P),"2.87,2.87(T,T)",0.0000(T),0.222,2.481050,5.36,5.36,0.563000,2.523000,2.267000,0.262000,0.893000,0.982000,14.5892
missense_variant,C7orf31,MISSENSE,NM_138811.3:p.Ala158Thr/c.472G>A,Gcc/Acc,MODERATE,COSM150253(3),0.28135,0.1567,rs12535348,0.08(T),0.752(P),2.095(M),-0.8969(T),,chr7,25194753,25194753,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala158Thr/c.472G>A|590|C7orf31|protein_coding|CODING|NM_138811.3|6|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.4325,0.3919,0.4891,0.37,0.12,0.50,,0.000621(D),0.343(P),"2.98,2.98(T,T)",0.0000(T),0.325,2.850917,5.47,4.58,0.563000,1.293000,1.734000,0.038000,0.857000,0.918000,11.8433
synonymous_variant,NPVF,SILENT,NM_022150.3:p.Pro128Pro/c.384C>T,ccC/ccT,LOW,COSM4162110(1),0.278355,0.1468,rs2717851,,,,,,chr7,25266400,25266400,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro128Pro/c.384C>T|196|NPVF|protein_coding|CODING|NM_022150.3|2|1),,,,,0.2597,0.3184,0.2773,0.31,0.36,0.28,,,,,,,,,,,,,,,,
missense_variant,NPVF,MISSENSE,NM_022150.3:p.Asp42Gly/c.125A>G,gAc/gGc,MODERATE,,0.247204,0.5129,rs877834,0.21(T),0.006(B),1.71(L),-0.9399(T),,chr7,25267934,25267934,T,C,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp42Gly/c.125A>G|196|NPVF|protein_coding|CODING|NM_022150.3|1|1),HUVEC:H3K27me3,,,,0.2403,0.2594,0.1849,0.16,0.11,0.18,,0.107806(N),1.000(P),1.51(T),0.0000(T),0.048,0.781553,5.57,0.266,0.528000,0.085000,0.069000,0.871000,0.004000,0.091000,4.4368
missense_variant,NPVF,MISSENSE,NM_022150.3:p.Ile32Met/c.96C>G,atC/atG,MODERATE,,0.97484,1,rs886354,1(T),0.0(B),-2.095(N),-0.9793(T),,chr7,25267963,25267963,G,C,hom,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile32Met/c.96C>G|196|NPVF|protein_coding|CODING|NM_022150.3|1|1),HUVEC:H3K27me3,,,,0.9867,0.9553,0.9245,0.94,0.99,0.92,,0.000121(N),1.000(P),2.01(T),0.0000(T),0.152,-2.702686,5.37,4.47,-0.127000,0.618000,-0.261000,0.357000,0.018000,0.008000,5.5129
synonymous_variant,NFE2L3,SILENT,NM_004289.6:p.Cys450Cys/c.1350C>T,tgC/tgT,LOW,,0.35603,0.5466,rs2074566,,,,,,chr7,26224668,26224668,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys450Cys/c.1350C>T|694|NFE2L3|protein_coding|CODING|NM_004289.6|4|1),"H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,GM12878:BCL3,NHEK:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.2342,0.2565,0.1203,0.22,0.46,0.10,,,,,,,,,,,,,,,,
synonymous_variant,C7orf71,SILENT,NM_001145531.1:p.Tyr56Tyr/c.168C>T,taC/taT,LOW,,0.00199681,0,rs75706143,,,,,,chr7,26678931,26678931,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr56Tyr/c.168C>T|169|C7orf71|protein_coding|CODING|NM_001145531.1|2|1),"K562:H3K36me3,HepG2:H3K27me3",,,,0,0.0014,0.0089,,,,,,,,,,,,,,,,,,,
missense_variant,HOXA1,MISSENSE,NM_005522.4:p.Arg73His/c.218G>A,cGc/cAc,MODERATE,COSM4162117(1),0.780751,0.994,rs10951154,0.57(T),0.0(B),,-1.0052(T),,chr7,27135314,27135314,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg73His/c.218G>A|335|HOXA1|protein_coding|CODING|NM_005522.4|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg73His/c.218G>A|137|HOXA1|protein_coding|CODING|NM_153620.2|1|1),upstream_gene_variant(MODIFIER||399|||HOTAIRM1||NON_CODING|NR_038366.1||1),upstream_gene_variant(MODIFIER||399|||HOTAIRM1||NON_CODING|NR_038367.1||1)","NHEK:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,IMR90:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9519,0.8444,0.8479,0.73,0.48,0.86,,0.823224(N),1.000(P),"1.56,1.56(T,T)",0.0000(T),0.121,-1.343645,3.68,2.53,-0.891000,0.320000,1.330000,0.695000,0.997000,0.995000,4.9074
synonymous_variant,HOXA4,SILENT,NM_002141.4:p.Arg238Arg/c.714A>C,cgA/cgC,LOW,,0.955471,0.998,rs2158218,0(D),,,-1.0114(T),,chr7,27169093,27169093,T,G,hom,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg238Arg/c.714A>C|320|HOXA4|protein_coding|CODING|NM_002141.4|2|1),downstream_gene_variant(MODIFIER||714|||HOXA-AS2||NON_CODING|NR_122069.1||1)","HUVEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3",,,,0.9458,0.9769,0.9652,0.95,0.91,0.97,,,0.000(P),,0.0000(T),.,1.033319,5.29,1.97,-1.158000,0.222000,-0.085000,0.938000,1.000000,0.696000,5.8839
missense_variant,HOXA4,MISSENSE,NM_002141.4:p.Leu140Pro/c.419T>C,cTg/cCg,MODERATE,COSM4162119(1),0.955272,0.998,rs10251056,0.31(T),0.0(B),-1.445(N),-0.9846(T),,chr7,27169934,27169934,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu140Pro/c.419T>C|320|HOXA4|protein_coding|CODING|NM_002141.4|1|1),downstream_gene_variant(MODIFIER||1555|||HOXA-AS2||NON_CODING|NR_122069.1||1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K4me3,HUVEC:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,HepG2:PolII,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HMEC:CTCF,HepG2:H3K4me3,HepG2:CTCF,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9458,0.9769,0.9652,,,,,,0.000(P),"-2.23,-2.23(D,D)",0.0000(T),0.126,0.530312,3.06,0.225,-0.711000,-0.002000,-2.748000,0.706000,0.977000,0.000000,2.9278
missense_variant,HOXA4,MISSENSE,NM_002141.4:p.Thr70Pro/c.208A>C,Act/Cct,MODERATE,COSM4162120(1),0.953674,0.998,rs6944345,1(T),0.0(B),-1.3(N),-0.9847(T),,chr7,27170145,27170145,T,G,hom,"missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr70Pro/c.208A>C|320|HOXA4|protein_coding|CODING|NM_002141.4|1|1),downstream_gene_variant(MODIFIER||1766|||HOXA-AS2||NON_CODING|NR_122069.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K4me3,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9458,0.9741,0.9652,0.97,0.94,0.98,,0.717489(N),0.000(P),"1.01,1.01(T,T)",0.0000(T),0.04,-0.592740,4.04,2.2,-1.892000,0.017000,0.419000,0.635000,0.985000,0.995000,4.7868
synonymous_variant,HOXA4,SILENT,NM_002141.4:p.Leu55Leu/c.165G>T,ctG/ctT,LOW,,0.00139776,0,,,,,,,chr7,27170188,27170188,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu55Leu/c.165G>T|320|HOXA4|protein_coding|CODING|NM_002141.4|1|1),downstream_gene_variant(MODIFIER||1809|||HOXA-AS2||NON_CODING|NR_122069.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0041,0.0014,0.002,,,,,,,,,,,,,,,,,,,
synonymous_variant,HOXA7,SILENT,NM_006896.3:p.Ala32Ala/c.96T>G,gcT/gcG,LOW,COSM4004444(1),0.768371,0.8601,rs2301720,,,,,,chr7,27196069,27196069,A,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala32Ala/c.96T>G|230|HOXA7|protein_coding|CODING|NM_006896.3|1|1),downstream_gene_variant(MODIFIER||522|||HOXA-AS3||NON_CODING|NR_038831.1||1),downstream_gene_variant(MODIFIER||522|||HOXA-AS3||NON_CODING|NR_038832.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HSMM:H2AZ,HeLa-S3:DNase1,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HeLa-S3:H3K9ac,HSMM:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HSMM:DNase1,HUVEC:H3K4me2,HeLa-S3:PolII,HeLa-S3:H3K27ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8926,0.7349,0.8648,0.78,0.61,0.87,,,,,,,,,,,,,,,,
missense_variant,HOXA7,MISSENSE,NM_006896.3:p.Ala18Thr/c.52G>A,Gct/Act,MODERATE,COSM4004445(3),0.618411,0.8581,rs2301721,0.41(T),0.015(B),0.55(N),-1.0132(T),,chr7,27196113,27196113,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala18Thr/c.52G>A|230|HOXA7|protein_coding|CODING|NM_006896.3|1|1),downstream_gene_variant(MODIFIER||566|||HOXA-AS3||NON_CODING|NR_038831.1||1),downstream_gene_variant(MODIFIER||566|||HOXA-AS3||NON_CODING|NR_038832.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,H1ESC:USF1,HeLa-S3:DNase1,HSMM:H2AZ,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HSMM:DNase1,HUVEC:H3K4me2,HeLa-S3:PolII,HeLa-S3:H3K27ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8303,0.6499,0.83,0.62,0.21,0.84,,0.000503(N),0.016(P),"1.58,-0.02(T,T)",0.0000(T),0.262,2.173748,5.21,4.34,0.561000,1.341000,2.781000,0.990000,1.000000,1.000000,13.6625
synonymous_variant,HOXA13,SILENT,NM_000522.4:p.Ala168Ala/c.504G>A,gcG/gcA,LOW,,0.0131789,0,rs34185333,,,,,,chr7,27239193,27239193,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala168Ala/c.504G>A|388|HOXA13|protein_coding|CODING|NM_000522.4|1|1),upstream_gene_variant(MODIFIER||847|||HOTTIP||NON_CODING|NR_037843.3||1)","H1ESC:H3K36me3,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.001,0.013,0.0278,0.02,0.02,0.03,,,,,,,,,,,,,,,,
missense_variant,HOXA13,MISSENSE,NM_000522.4:p.Pro166Thr/c.496C>A,Ccc/Acc,MODERATE,,0.0107827,0,rs34398255,0.23(T),0.731(P),0.625(N),-1.0670(T),,chr7,27239201,27239201,G,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro166Thr/c.496C>A|388|HOXA13|protein_coding|CODING|NM_000522.4|1|1),upstream_gene_variant(MODIFIER||839|||HOTTIP||NON_CODING|NR_037843.3||1)","H1ESC:H3K36me3,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0,0.0101,0.0219,,,,,0.064682(N),0.907(N),1.06(T),0.0555(T),0.392,1.920067,3.3,2.36,0.456000,0.638000,1.156000,0.808000,0.999000,0.999000,10.1196
synonymous_variant,HOXA13,SILENT,NM_000522.4:p.Ala49Ala/c.147G>A,gcG/gcA,LOW,,0.0105831,0,rs35042646,,,,,,chr7,27239550,27239550,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala49Ala/c.147G>A|388|HOXA13|protein_coding|CODING|NM_000522.4|1|1),upstream_gene_variant(MODIFIER||490|||HOTTIP||NON_CODING|NR_037843.3||1)","GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3",,,,0,0.0101,0.0209,,,,,,,,,,,,,,,,,,,
synonymous_variant,HIBADH,SILENT,NM_152740.3:p.Arg6Arg/c.18G>T,cgG/cgT,LOW,COSM3762610(1),0.282548,0.5397,rs11550134,,,,,,chr7,27702390,27702390,C,A,het,synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg6Arg/c.18G>T|336|HIBADH|protein_coding|CODING|NM_152740.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:HDAC2,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,GM12878:Cfos,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.3558,0.255,0.2475,0.16,0.09,0.20,,,,,,,,,,,,,,,,
missense_variant,TRIL,MISSENSE,NM_014817.3:p.Ala621Val/c.1862C>T,gCc/gTc,MODERATE,,0.308506,0.6091,rs61742220,,,,,,chr7,28995800,28995800,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala621Val/c.1862C>T|810|TRIL|protein_coding|CODING|NM_014817.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"NHEK:CTCF,HepG2:RXRA,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HepG2:Yy1,HepG2:Rad21,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.318,0.2651,0.2137,0.17,0.14,0.19,,,,,,,,,,,,,,,,
missense_variant,TRIL,MISSENSE,NM_014817.3:p.Ala369Thr/c.1105G>A,Gcc/Acc,MODERATE,,0.338658,0.6091,rs3735562,,,,,,chr7,28996557,28996557,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala369Thr/c.1105G>A|810|TRIL|protein_coding|CODING|NM_014817.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,HMEC:H3K27me3,H1ESC:Yy1,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,0.3221,0.2651,0.2147,0.21,0.24,0.20,,,,,,,,,,,,,,,,
missense_variant,TRIL,MISSENSE,NM_014817.3:p.Thr240Ala/c.718A>G,Acc/Gcc,MODERATE,,0.846446,0.87,rs740250,,,,,,chr7,28996944,28996944,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr240Ala/c.718A>G|810|TRIL|protein_coding|CODING|NM_014817.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,NHEK:DNase1",,,,0.7699,0.7925,0.832,,,,,,,,,,,,,,,,,,,
missense_variant,TRIL,MISSENSE,NM_014817.3:p.Ser174Cys/c.521C>G,tCt/tGt,MODERATE,,0.327276,0.6091,rs6950750,,,,,,chr7,28997141,28997141,G,C,het,missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser174Cys/c.521C>G|810|TRIL|protein_coding|CODING|NM_014817.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3211,0.2637,0.2147,0.22,0.23,0.21,,,,,,,,,,,,,,,,
missense_variant,CPVL,MISSENSE,NM_019029.2:p.Arg398His/c.1193G>A,cGc/cAc,MODERATE,COSM4162130(1),0.205471,0.2649,rs1052200,0.54(T),0.133(B),1.76(L),-0.9720(T),,chr7,29070320,29070320,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg398His/c.1193G>A|476|CPVL|protein_coding|CODING|NM_019029.2|12|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg398His/c.1193G>A|476|CPVL|protein_coding|CODING|NM_031311.3|12|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.2065,0.281,0.1521,0.15,0.16,0.14,,0.000047(N),0.001(P),"1.51,1.51,1.51,1.51(T,T,T,T)",0.0000(T),0.285,1.198280,5.71,1.97,-0.203000,0.364000,1.058000,0.051000,0.995000,0.998000,9.3878
synonymous_variant,CHN2,SILENT,NM_001293069.1:p.Pro19Pro/c.57A>G,ccA/ccG,LOW,COSM3832610(1),0.577276,0.6944,rs245880,,,,,,chr7,29186256,29186256,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro19Pro/c.57A>G|543|CHN2|protein_coding|CODING|NM_001293069.1|1|1),upstream_gene_variant(MODIFIER||103||476|CPVL|protein_coding|CODING|NM_019029.2||1),upstream_gene_variant(MODIFIER||103||476|CPVL|protein_coding|CODING|NM_031311.3||1)","K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:Max,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:USF1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HMEC:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.5562,0.5648,0.4125,,,,,,,,,,,,,,,,,,,
splice_donor_variant,CHN2,protein_coding,NM_001293069.1:c.274A>G,,HIGH,,0.832268,0.9881,rs245881,1(T),0.001(B),,-0.9212(T),CHN2:0.06(16);,chr7,29186576,29186576,A,G,hom,"splice_donor_variant(HIGH|||c.274A>G|543|CHN2|protein_coding|CODING|NM_001293069.1|2|1),upstream_gene_variant(MODIFIER||423||476|CPVL|protein_coding|CODING|NM_019029.2||1),upstream_gene_variant(MODIFIER||423||476|CPVL|protein_coding|CODING|NM_031311.3||1),intron_variant(MODIFIER|||c.273+1A>G|543|CHN2|protein_coding|CODING|NM_001293069.1|2|1)","K562:H3K4me3,HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,0.9018,0.804,0.7863,,,,,,1.000(P),"-2.94,-0.48(D,T)",0.0000(T),0.075,-1.222862,3.29,-1.89,0.533000,-0.380000,-0.820000,0.001000,0.000000,0.000000,0.3578
synonymous_variant,PRR15,SILENT,NM_175887.2:p.Ser10Ser/c.30C>G,tcC/tcG,LOW,COSM3750021(6),0.827476,0.7292,rs2302618,,,,,,chr7,29605975,29605975,C,G,hom,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser10Ser/c.30C>G|129|PRR15|protein_coding|CODING|NM_175887.2|2|1),"H1ESC:USF1,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3",,,,0.865,0.8631,0.9652,0.91,0.81,0.96,,,,,,,,,,,,,,,,
missense_variant,PRR15,MISSENSE,NM_175887.2:p.Pro115Ser/c.343C>T,Ccg/Tcg,MODERATE,COSM4162136(1),0.425319,0.5288,rs10271996,0.76(T),0.005(B),0.805(L),-0.9319(T),,chr7,29606288,29606288,C,T,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro115Ser/c.343C>T|129|PRR15|protein_coding|CODING|NM_175887.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3916,0.3573,0.3449,0.38,0.45,0.35,,0.642086(N),1.000(P),0.79(T),0.0000(T),0.024,0.180903,4.63,-0.84,0.491000,-0.384000,0.138000,0.368000,0.001000,0.001000,4.1388
synonymous_variant,PLEKHA8,SILENT,NM_001197026.1:p.Thr440Thr/c.1320A>G,acA/acG,LOW,COSM452950(3),0.248403,0.1141,rs11977829,,,,,,chr7,30113706,30113706,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr440Thr/c.1320A>G|519|PLEKHA8|protein_coding|CODING|NM_001197026.1|13|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr440Thr/c.1320A>G|459|PLEKHA8|protein_coding|CODING|NM_001197027.1|13|1),intron_variant(MODIFIER|||c.1300+11348A>G|440|PLEKHA8|protein_coding|CODING|NM_032639.3|12|1)","H1ESC:H3K36me3,K562:H3K36me3,HepG2:H3K36me3",,,,0.1677,0.2378,0.2396,0.29,0.41,0.24,,,,,,,,,,,,,,,,
synonymous_variant,MTURN,SILENT,NM_152793.2:p.Ala7Ala/c.21C>G,gcC/gcG,LOW,COSM4162149(3),0.151158,0.0655,rs73689406,,,,,,chr7,30174773,30174773,C,G,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala7Ala/c.21C>G|131|MTURN|protein_coding|CODING|NM_152793.2|1|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,K562:E2F6,HeLa-S3:PolII,HepG2:H3K4me3,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1227,0.1643,0.1581,0.15,0.18,0.14,,,,,,,,,,,,,,,,
missense_variant,GARS,MISSENSE,NM_002047.2:p.Pro42Ala/c.124C>G,Ccc/Gcc,MODERATE,COSM3762627(2),0.649361,0.6677,rs1049402,0.78(T),0.0(B),0(N),-1.0504(T),,chr7,30634661,30634661,C,G,het,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro42Ala/c.124C>G|739|GARS|protein_coding|CODING|NM_002047.2|1|1),"GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,K562:Znf263,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,NHEK:H3K36me3,CD4:H4K5ac,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Nrsf,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,GM12878:Nrsf,K562:Srf,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.6391,0.7147,0.7634,0.74,0.63,0.79,,0.925137(N),1.000(P),-1.37(T),0.0000(T),0.054,-2.164835,3.31,-6.63,-0.744000,-2.551000,-0.671000,0.037000,0.000000,0.000000,5.5596
missense_variant,INMT,MISSENSE,NM_006774.4:p.Asp28Asn/c.82G>A,Gat/Aat,MODERATE,COSM3762631(3),0.258786,0.0367,rs4723010,0.54(T),"0.009,0.009(B,B)",1.67(L),-0.9012(T),,chr7,30791848,30791848,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp28Asn/c.82G>A|262|INMT|protein_coding|CODING|NM_001199219.1|1|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp28Asn/c.82G>A|263|INMT|protein_coding|CODING|NM_006774.4|1|1),non_coding_exon_variant(MODIFIER|||n.98G>A||INMT-FAM188B||NON_CODING|NR_037598.1|1|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.271,0.3314,0.3936,0.36,0.28,0.39,,0.552416(N),1.000(P),"3.01,3.01(T,T)",0.0000(T),0.046,0.361850,3.28,-2.41,-0.140000,-0.566000,-0.185000,0.003000,0.000000,0.000000,1.7368
missense_variant,INMT,MISSENSE,NM_006774.4:p.Glu219Gly/c.656A>G,gAg/gGg,MODERATE,COSM150255(4),0.329273,0.5476,rs2302340,0.07(T),"0.847,0.847(P,P)",2.24(M),-0.9263(T),,chr7,30795331,30795331,A,G,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu218Gly/c.653A>G|262|INMT|protein_coding|CODING|NM_001199219.1|3|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu219Gly/c.656A>G|263|INMT|protein_coding|CODING|NM_006774.4|3|1),intron_variant(MODIFIER|||n.375+1777A>G||INMT-FAM188B||NON_CODING|NR_037598.1|2|1)","IMR90:H3K4me1,IMR90:H3K27ac",,,,0.2393,0.5086,0.4294,0.32,0.13,0.42,,0.002047(N),0.015(P),"2.77,2.77(T,T)",0.0000(T),0.298,3.190717,3.67,3.67,0.459000,1.635000,3.452000,0.625000,0.998000,0.986000,10.6007
missense_variant,INMT,MISSENSE,NM_006774.4:p.Phe254Cys/c.761T>G,tTc/tGc,MODERATE,COSM3762632(1),0.773163,0.8423,rs4720015,0.09(T),"0.995,0.995(D,D)",2.595(M),-1.0585(T),,chr7,30795436,30795436,T,G,hom,"missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe253Cys/c.758T>G|262|INMT|protein_coding|CODING|NM_001199219.1|3|1),missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe254Cys/c.761T>G|263|INMT|protein_coding|CODING|NM_006774.4|3|1),intron_variant(MODIFIER|||n.375+1882T>G||INMT-FAM188B||NON_CODING|NR_037598.1|2|1)","IMR90:DNase1,IMR90:H3K4me1,IMR90:H3K27ac",,,,0.7853,0.8963,0.8986,0.79,0.59,0.88,,0.001743(N),0.999(P),"3.75,3.75(T,T)",0.0000(T),0.366,3.268417,3.41,2.22,0.459000,0.633000,0.717000,0.639000,0.217000,0.006000,5.9656
missense_variant,FAM188B,MISSENSE,NM_032222.2:p.Thr322Met/c.965C>T,aCg/aTg,MODERATE,COSM4004449(2),0.502995,0.1627,rs12701034,0(D),0.003(B),0(N),-1.0267(T),,chr7,30831082,30831082,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr322Met/c.965C>T|757|FAM188B|protein_coding|CODING|NM_032222.2|5|1),non_coding_exon_variant(MODIFIER|||n.1494C>T||INMT-FAM188B||NON_CODING|NR_037598.1|7|1)","NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.5123,0.4424,0.4801,0.59,0.76,0.50,,0.346702(N),1.000(P),4.1(T),0.0000(T),0.046,0.683653,4.25,-2.83,-1.151000,-0.654000,-1.912000,0.001000,0.000000,0.000000,1.0409
missense_variant,CCDC129,MISSENSE,NM_001257968.1:p.Ala58Asp/c.173C>A,gCt/gAt,MODERATE,COSM4004454(3),0.503195,0.4544,rs7811042,0.08(T),"0.483,0.483,0.483,0.483(P,P,P,P)",1.67(L),-0.9338(T),,chr7,31592733,31592733,C,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala42Asp/c.125C>A|1054|CCDC129|protein_coding|CODING|NM_001257967.1|3|1),missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala58Asp/c.173C>A|1062|CCDC129|protein_coding|CODING|NM_001257968.1|2|1),missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala32Asp/c.95C>A|1044|CCDC129|protein_coding|CODING|NM_194300.3|1|1),non_coding_exon_variant(MODIFIER|||n.1088C>A||CCDC129||CODING|NR_047565.1|2|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.5092,0.5317,0.674,0.60,0.43,0.68,,0.468970(N),1.000(P),"0.81,0.83,2.13,2.39,0.82,2.38(T,T,T,T,T,T)",0.0000(T),0.234,1.711524,5.35,0.365,-0.140000,0.151000,0.074000,0.002000,0.000000,0.000000,7.1932
synonymous_variant,CCDC129,SILENT,NM_001257968.1:p.Asp109Asp/c.327C>T,gaC/gaT,LOW,COSM3762634(1),0.228834,0.3313,rs2286711,,,,,,chr7,31594508,31594508,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp93Asp/c.279C>T|1054|CCDC129|protein_coding|CODING|NM_001257967.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp109Asp/c.327C>T|1062|CCDC129|protein_coding|CODING|NM_001257968.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp83Asp/c.249C>T|1044|CCDC129|protein_coding|CODING|NM_194300.3|3|1),non_coding_exon_variant(MODIFIER|||n.1242C>T||CCDC129||CODING|NR_047565.1|4|1)",HMEC:H3K27me3,,,,0.2515,0.1671,0.2435,0.22,0.18,0.24,,,,,,,,,,,,,,,,
synonymous_variant,CCDC129,SILENT,NM_001257968.1:p.Gly143Gly/c.429G>T,ggG/ggT,LOW,,0.441094,0.3383,rs67930674,,,,,,chr7,31611758,31611758,G,T,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly127Gly/c.381G>T|1054|CCDC129|protein_coding|CODING|NM_001257967.1|7|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly143Gly/c.429G>T|1062|CCDC129|protein_coding|CODING|NM_001257968.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly117Gly/c.351G>T|1044|CCDC129|protein_coding|CODING|NM_194300.3|5|1),non_coding_exon_variant(MODIFIER|||n.1344G>T||CCDC129||CODING|NR_047565.1|6|1)",,,,,0.4059,0.5101,0.4036,0.45,0.52,0.42,,,,,,,,,,,,,,,,
synonymous_variant,CCDC129,SILENT,NM_001257968.1:p.Val311Val/c.933T>C,gtT/gtC,LOW,,0.952875,0.9911,rs6945679,,,,,,chr7,31617733,31617733,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val295Val/c.885T>C|1054|CCDC129|protein_coding|CODING|NM_001257967.1|9|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val311Val/c.933T>C|1062|CCDC129|protein_coding|CODING|NM_001257968.1|8|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val285Val/c.855T>C|1044|CCDC129|protein_coding|CODING|NM_194300.3|7|1),intron_variant(MODIFIER|||n.1719+129T>C||CCDC129||CODING|NR_047565.1|8|1)","HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9642,0.9827,0.9761,0.96,0.90,0.98,,,,,,,,,,,,,,,,
missense_variant,CCDC129,MISSENSE,NM_001257968.1:p.His403Arg/c.1208A>G,cAt/cGt,MODERATE,,0.952875,0.9911,rs10252720,,"0.001,0.001,0.001(B,B,B)",-1.32(N),-0.9861(T),,chr7,31618008,31618008,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His387Arg/c.1160A>G|1054|CCDC129|protein_coding|CODING|NM_001257967.1|9|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His403Arg/c.1208A>G|1062|CCDC129|protein_coding|CODING|NM_001257968.1|8|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His377Arg/c.1130A>G|1044|CCDC129|protein_coding|CODING|NM_194300.3|7|1),intron_variant(MODIFIER|||n.1719+404A>G||CCDC129||CODING|NR_047565.1|8|1)","HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9642,0.9827,0.9761,0.96,0.90,0.98,,,1.000(P),"2.53,2.52,2.27(T,T,T)",0.0000(T),0.004,-0.981032,5.61,-4.14,-0.733000,-1.191000,-0.548000,0.029000,0.000000,0.000000,14.2625
missense_variant,CCDC129,MISSENSE,NM_001257968.1:p.Ala516Val/c.1547C>T,gCg/gTg,MODERATE,COSM3762636(1),0.728834,0.8085,rs4141001,0.53(T),"0.129,0.016,0.016,0.024(B,B,B,B)",0.69(N),-0.9800(T),,chr7,31682453,31682453,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala500Val/c.1499C>T|1054|CCDC129|protein_coding|CODING|NM_001257967.1|12|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala516Val/c.1547C>T|1062|CCDC129|protein_coding|CODING|NM_001257968.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala490Val/c.1469C>T|1044|CCDC129|protein_coding|CODING|NM_194300.3|10|1),non_coding_exon_variant(MODIFIER|||n.2018C>T||CCDC129||CODING|NR_047565.1|11|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.8067,0.7795,0.7475,0.71,0.59,0.78,,0.381326(N),1.000(P),"2.26,2.52,2.52,2.26(T,T,T,T)",0.0000(T),0.079,-0.312801,5.66,2.49,-0.353000,1.394000,1.281000,0.001000,0.150000,0.915000,6.3546
missense_variant,CCDC129,MISSENSE,NM_001257968.1:p.Cys835Tyr/c.2504G>A,tGt/tAt,MODERATE,COSM3762639(1),0.76278,0.8115,rs10247620,1(T),"0.067,0.605,0.605,0.098(B,P,P,B)",1.3(L),-0.9288(T),,chr7,31683410,31683410,G,A,hom,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys819Tyr/c.2456G>A|1054|CCDC129|protein_coding|CODING|NM_001257967.1|12|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys835Tyr/c.2504G>A|1062|CCDC129|protein_coding|CODING|NM_001257968.1|11|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys809Tyr/c.2426G>A|1044|CCDC129|protein_coding|CODING|NM_194300.3|10|1),non_coding_exon_variant(MODIFIER|||n.2975G>A||CCDC129||CODING|NR_047565.1|11|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.8067,0.7882,0.7475,0.75,0.71,0.78,,0.046331(N),1.000(P),"1.46,1.46,1.46,1.46(T,T,T,T)",0.0000(T),0.187,1.391104,5.86,4.07,0.655000,0.826000,1.758000,0.116000,0.055000,0.922000,9.1905
missense_variant,PPP1R17,MISSENSE,NM_006658.4:p.Leu12Val/c.34C>G,Ctc/Gtc,MODERATE,COSM150258(1),0.159145,0.2341,rs3735422,0.11(T),"0.197,0.164(B,B)",1.5(L),-1.0190(T),,chr7,31732089,31732089,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu12Val/c.34C>G|104|PPP1R17|protein_coding|CODING|NM_001145123.2|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu12Val/c.34C>G|155|PPP1R17|protein_coding|CODING|NM_006658.4|2|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.0992,0.1095,0.1153,0.13,0.17,0.11,,0.005132(N),0.766(P),"1.27,1.28(T,T)",0.0000(T),0.177,2.068223,6.16,4.32,0.650000,0.886000,2.986000,0.844000,0.999000,1.000000,5.263
synonymous_variant,PPP1R17,SILENT,NM_006658.4:p.Asp136Asp/c.408C>T,gaC/gaT,LOW,COSM150259(3),0.117812,0.2361,rs2072409,,,,,,chr7,31746837,31746837,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp85Asp/c.255C>T|104|PPP1R17|protein_coding|CODING|NM_001145123.2|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp136Asp/c.408C>T|155|PPP1R17|protein_coding|CODING|NM_006658.4|5|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1022,0.0994,0.1252,0.10,0.05,0.13,,,,,,,,,,,,,,,,
synonymous_variant,PDE1C,SILENT,NM_001191058.2:p.Gly670Gly/c.2010T>C,ggT/ggC,LOW,COSM150260(3),0.189896,0.124,rs3213709,,,,,,chr7,31848706,31848706,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly610Gly/c.1830T>C|634|PDE1C|protein_coding|CODING|NM_001191056.2|16|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly610Gly/c.1830T>C|709|PDE1C|protein_coding|CODING|NM_001191057.2|16|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly670Gly/c.2010T>C|769|PDE1C|protein_coding|CODING|NM_001191058.2|17|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly610Gly/c.1830T>C|709|PDE1C|protein_coding|CODING|NM_001191059.2|17|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly610Gly/c.1830T>C|634|PDE1C|protein_coding|CODING|NM_005020.3|17|1)",,,,,0.2137,0.1542,0.2167,0.21,0.21,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PDE1C,SILENT,NM_001191058.2:p.Ala654Ala/c.1962C>T,gcC/gcT,LOW,COSM3762641(1),0.234625,0.1667,rs2302450,,,,,,chr7,31855569,31855569,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala594Ala/c.1782C>T|634|PDE1C|protein_coding|CODING|NM_001191056.2|15|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala594Ala/c.1782C>T|709|PDE1C|protein_coding|CODING|NM_001191057.2|15|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala654Ala/c.1962C>T|769|PDE1C|protein_coding|CODING|NM_001191058.2|16|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala594Ala/c.1782C>T|709|PDE1C|protein_coding|CODING|NM_001191059.2|16|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala594Ala/c.1782C>T|634|PDE1C|protein_coding|CODING|NM_005020.3|16|1)","HUVEC:H3K4me3,NH-A:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,H1ESC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K27ac",,,,0.2751,0.2046,0.2704,0.24,0.23,0.24,,,,,,,,,,,,,,,,
synonymous_variant,PDE1C,SILENT,NM_001191058.2:p.Asn651Asn/c.1953C>T,aaC/aaT,LOW,,0.950679,0.9236,rs1860790,,,,,,chr7,31855578,31855578,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn591Asn/c.1773C>T|634|PDE1C|protein_coding|CODING|NM_001191056.2|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn591Asn/c.1773C>T|709|PDE1C|protein_coding|CODING|NM_001191057.2|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn651Asn/c.1953C>T|769|PDE1C|protein_coding|CODING|NM_001191058.2|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn591Asn/c.1773C>T|709|PDE1C|protein_coding|CODING|NM_001191059.2|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn591Asn/c.1773C>T|634|PDE1C|protein_coding|CODING|NM_005020.3|16|1)","HUVEC:H3K4me3,NH-A:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,H1ESC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K27ac",,,,0.955,0.9827,0.9761,0.97,0.95,0.98,,,,,,,,,,,,,,,,
synonymous_variant,PDE1C,SILENT,NM_001191058.2:p.Ala129Ala/c.387C>T,gcC/gcT,LOW,,0.122404,0.2103,rs61729940,,,,,,chr7,31920395,31920395,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala69Ala/c.207C>T|634|PDE1C|protein_coding|CODING|NM_001191056.2|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala69Ala/c.207C>T|709|PDE1C|protein_coding|CODING|NM_001191057.2|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala129Ala/c.387C>T|769|PDE1C|protein_coding|CODING|NM_001191058.2|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala69Ala/c.207C>T|709|PDE1C|protein_coding|CODING|NM_001191059.2|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala69Ala/c.207C>T|634|PDE1C|protein_coding|CODING|NM_005020.3|4|1)",HMEC:H3K36me3,,,,0.1902,0.0893,0.1153,0.08,0.04,0.11,,,,,,,,,,,,,,,,
missense_variant,PDE1C,MISSENSE,NM_001191058.2:p.Ser94Pro/c.280T>C,Tca/Cca,MODERATE,,1,1,rs977625,1(T),0.0(B),-1.1(N),-0.8927(T),,chr7,32209425,32209425,A,G,hom,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser94Pro/c.280T>C|769|PDE1C|protein_coding|CODING|NM_001191058.2|3|1),HUVEC:H3K27me3,,,,1,1,1,,,,,0.517458(N),0.000(P),-0.44(T),0.0000(T),0.054,0.397188,5.65,5.65,-0.119000,1.417000,6.425000,0.609000,0.981000,1.000000,14.5081
synonymous_variant,PDE1C,SILENT,NM_001191058.2:p.Glu82Glu/c.246G>A,gaG/gaA,LOW,,0.55012,0.7579,rs977626,,,,,,chr7,32209459,32209459,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu82Glu/c.246G>A|769|PDE1C|protein_coding|CODING|NM_001191058.2|3|1),HUVEC:H3K27me3,,,,0.6851,0.3127,0.3767,0.42,0.52,0.38,,,,,,,,,,,,,,,,
missense_variant,PDE1C,MISSENSE,NM_001191058.2:p.Ala4Val/c.11C>T,gCc/gTc,MODERATE,COSM4162175(1),0.784545,0.7917,rs215607,0.06(T),0.008(B),0(N),-0.8783(T),,chr7,32338337,32338337,G,A,hom,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala4Val/c.11C>T|769|PDE1C|protein_coding|CODING|NM_001191058.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8016,0.853,0.8012,0.75,0.71,0.77,,0.899131(N),0.000(P),-0.98(T),0.0000(T),0.047,2.849002,4.05,4.05,0.491000,2.085000,6.649000,0.461000,1.000000,1.000000,15.136
synonymous_variant,LSM5,SILENT,NM_012322.2:p.Pro14Pro/c.42C>G,ccC/ccG,LOW,COSM150264(2),0.750998,0.8651,rs1584614,,,,,,chr7,32529936,32529936,G,C,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro14Pro/c.42C>G|91|LSM5|protein_coding|CODING|NM_012322.2|1|1),intron_variant(MODIFIER|||c.-41-980C>G|62|LSM5|protein_coding|CODING|NM_001139499.1|1|1),intron_variant(MODIFIER|||c.-41-980C>G|62|LSM5|protein_coding|CODING|NM_001130710.1|1|1),non_coding_exon_variant(MODIFIER|||n.540C>G||LSM5||CODING|NR_024466.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,HepG2:Srf,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,K562:Tr4,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,CD4:MOF,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,GM12878:SIX5,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:Srf,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:SP1,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,K562:PU1,HepG2:TAF1,K562:H3K79me2,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:Tr4,GM12878:PU1,CD4:H3K9ac,HepG2:Yy1,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.635,0.804,0.8052,0.76,0.66,0.81,,,,,,,,,,,,,,,,
synonymous_variant,AVL9,SILENT,NM_015060.1:p.Thr520Thr/c.1560A>G,acA/acG,LOW,COSM150265(1),0.56869,0.6677,rs1993050,,,,,,chr7,32613020,32613020,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr520Thr/c.1560A>G|648|AVL9|protein_coding|CODING|NM_015060.1|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5112,0.7147,0.6551,0.58,0.43,0.66,,,,,,,,,,,,,,,,
synonymous_variant,FKBP9,SILENT,NM_001284341.1:p.Ala79Ala/c.237G>A,gcG/gcA,LOW,COSM4162178(1),0.325679,0.3433,rs3110942,,,,,,chr7,33003171,33003171,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala79Ala/c.237G>A|623|FKBP9|protein_coding|CODING|NM_001284341.1|2|1),intron_variant(MODIFIER|||c.221+5765G>A|570|FKBP9|protein_coding|CODING|NM_007270.4|1|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3732,0.3012,0.4642,,,,,,,,,,,,,,,,,,,
synonymous_variant,NT5C3A,SILENT,NM_001002010.2:p.Tyr131Tyr/c.393T>C,taT/taC,LOW,COSM4004459(1),0.666933,0.4613,rs3750117,,,,,,chr7,33060946,33060946,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr92Tyr/c.276T>C|297|NT5C3A|protein_coding|CODING|NM_001002009.2|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr131Tyr/c.393T>C|336|NT5C3A|protein_coding|CODING|NM_001002010.2|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr80Tyr/c.240T>C|285|NT5C3A|protein_coding|CODING|NM_001166118.2|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr92Tyr/c.276T>C|297|NT5C3A|protein_coding|CODING|NM_016489.12|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6012,0.7176,0.7087,0.72,0.77,0.69,,,,,,,,,,,,,,,,
missense_variant,BBS9,MISSENSE,NM_198428.2:p.Ala455Thr/c.1363G>A,Gcc/Acc,MODERATE,,0.171326,0.1875,rs11773504,0.6(T),"0.001,0.005,0.001,0.005(B,B,B,B)",0.205(N),-1.0195(T),,chr7,33388713,33388713,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala455Thr/c.1363G>A|852|BBS9|protein_coding|CODING|NM_001033604.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala455Thr/c.1363G>A|882|BBS9|protein_coding|CODING|NM_001033605.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala455Thr/c.1363G>A|847|BBS9|protein_coding|CODING|NM_014451.3|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala455Thr/c.1363G>A|887|BBS9|protein_coding|CODING|NM_198428.2|13|1)",,,,,0.2004,0.2046,0.1958,0.18,0.13,0.20,,0.297157(N),1.000(P),"2.58,0.35,0.35,2.58,2.58(T,T,T,T,T)",0.0001(T),0.41,0.471416,5.41,3.21,0.585000,1.234000,1.279000,0.211000,0.968000,0.978000,4.8653
synonymous_variant,BMPER,SILENT,NM_133468.4:p.Pro487Pro/c.1461G>T,ccG/ccT,LOW,COSM3762646(1),0.189297,0.1002,rs77064045,,,,,,chr7,34125420,34125420,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro487Pro/c.1461G>T|685|BMPER|protein_coding|CODING|NM_133468.4|14|1),,,,,0.182,0.2089,0.3141,0.25,0.17,0.29,,,,,,,,,,,,,,,,
synonymous_variant,BMPER,SILENT,NM_133468.4:p.Thr645Thr/c.1935G>C,acG/acC,LOW,COSM4162182(1),0.910144,0.998,rs6968741,,,,,,chr7,34192762,34192762,G,C,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr645Thr/c.1935G>C|685|BMPER|protein_coding|CODING|NM_133468.4|16|1),,,,,0.9499,0.928,0.9364,0.90,0.84,0.94,,,,,,,,,,,,,,,,
missense_variant,NPSR1,MISSENSE,NM_001300935.1:p.Asn107Ile/c.320A>T,aAt/aTt,MODERATE,,0.467452,0.5288,rs324981,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.505(N),-0.9395(T),,chr7,34818113,34818113,A,T,het,"missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn107Ile/c.320A>T|390|NPSR1|protein_coding|CODING|NM_001300935.1|3|1),missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn107Ile/c.320A>T|371|NPSR1|protein_coding|CODING|NM_207172.1|3|1),missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn107Ile/c.320A>T|377|NPSR1|protein_coding|CODING|NM_207173.1|3|1),missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn96Ile/c.287A>T|366|NPSR1|protein_coding|CODING|NM_001300933.1|3|1),intron_variant(MODIFIER|||c.281-48900A>T|305|NPSR1|protein_coding|CODING|NM_001300934.1|2|1),intron_variant(MODIFIER|||n.172-10061T>A||NPSR1-AS1||NON_CODING|NR_015356.2|1|1)",HUVEC:H3K27me3,,RCV000002276.1,,0.3272,0.4092,0.4622,0.49,0.55,0.46,,0.000009(N),0.035(P),"1.56,1.56,1.56,-0.55,1.56(T,T,T,T,T)",0.0000(T),0.289,-1.424493,5.14,5.14,-0.364000,0.895000,2.994000,0.191000,0.116000,0.847000,8.6008
synonymous_variant,TBX20,SILENT,NM_001077653.2:p.Ser13Ser/c.39T>C,tcT/tcC,LOW,,0.69389,0.5893,rs336283,,,,,,chr7,35293193,35293193,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser13Ser/c.39T>C|447|TBX20|protein_coding|CODING|NM_001077653.2|1|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser13Ser/c.39T>C|297|TBX20|protein_coding|CODING|NM_001166220.1|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.5746,0.6816,0.6789,0.75,0.86,0.69,,,,,,,,,,,,,,,,
missense_variant,EEPD1,MISSENSE,NM_030636.2:p.Ser343Asn/c.1028G>A,aGt/aAt,MODERATE,,0.941693,0.9712,rs196586,0.54(T),0.002(B),0.345(N),-0.9708(T),,chr7,36320821,36320821,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser343Asn/c.1028G>A|569|EEPD1|protein_coding|CODING|NM_030636.2|4|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM12878:H3K27me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,NH-A:H3K27ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K36me3,NHEK:DNase1",,,,0.9703,0.9568,0.9751,0.94,0.87,0.98,,0.185100(N),1.000(P),"-3.66,-3.66(D,D)",0.0000(T),0.008,0.649546,5.49,2.51,-1.206000,0.067000,1.064000,0.530000,0.000000,0.016000,6.01
synonymous_variant,EEPD1,SILENT,NM_030636.2:p.Asp548Asp/c.1644T>C,gaT/gaC,LOW,COSM4162189(1),0.942692,0.9742,rs196613,,,,-1.0320(T),,chr7,36338749,36338749,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp548Asp/c.1644T>C|569|EEPD1|protein_coding|CODING|NM_030636.2|8|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9836,0.9712,0.9841,0.94,0.85,0.99,,,0.038(P),,0.0000(T),.,-0.725499,5.17,-7.47,-2.905000,-1.739000,-0.568000,0.330000,0.017000,0.000000,1.0383
missense_variant,AOAH,MISSENSE,NM_001177506.1:p.Asp28Asn/c.82G>A,Gat/Aat,MODERATE,,0.351038,0.5248,rs2228410,0.37(T),"0.0,0.003,0.0(B,B,B)",,-1.0000(T),,chr7,36763672,36763672,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp28Asn/c.82G>A|687|AOAH|protein_coding|CODING|NM_001177506.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp28Asn/c.82G>A|543|AOAH|protein_coding|CODING|NM_001177507.1|1|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp28Asn/c.82G>A|575|AOAH|protein_coding|CODING|NM_001637.3|1|1)","CD4:H2BK20ac,CD4:H3K4me3,CD4:H2BK120ac",,,,0.41,0.4294,0.3569,0.27,0.15,0.33,,0.002871(N),1.000(P),"1.63,-1.07,-1.11,0.66(T,T,T,T)",0.0000(T),0.02,0.286216,4.18,-0.577,-2.449000,-0.447000,-0.187000,0.000000,0.000000,0.000000,5.0497
synonymous_variant,ELMO1,SILENT,NM_001206480.2:p.Thr666Thr/c.1998G>A,acG/acA,LOW,COSM3762654(2),0.0798722,0.0139,rs13246439,,,,,,chr7,36895342,36895342,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr186Thr/c.558G>A|247|ELMO1|protein_coding|CODING|NM_001039459.2|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr666Thr/c.1998G>A|727|ELMO1|protein_coding|CODING|NM_001206480.2|22|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr666Thr/c.1998G>A|727|ELMO1|protein_coding|CODING|NM_001206482.1|22|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr666Thr/c.1998G>A|727|ELMO1|protein_coding|CODING|NM_014800.10|22|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr186Thr/c.558G>A|247|ELMO1|protein_coding|CODING|NM_130442.3|7|1),non_coding_exon_variant(MODIFIER|||n.792G>A||ELMO1||CODING|NR_038120.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,HMEC:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0491,0.1268,0.0974,0.11,0.10,0.11,,,,,,,,,,,,,,,,
missense_variant,NME8,MISSENSE,NM_016616.4:p.Cys208Arg/c.622T>C,Tgt/Cgt,MODERATE,COSM4162193(1),0.743411,0.5466,rs10250905,,0.0(B),0(N),-1.0052(T),,chr7,37907304,37907304,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys208Arg/c.622T>C|588|NME8|protein_coding|CODING|NM_016616.4|11|1),splice_region_variant(LOW|||c.622T>C|588|NME8|protein_coding|CODING|NM_016616.4|11|1)",,,,,0.7239,0.7349,0.7545,0.79,0.86,0.75,,0.000370(D),0.000(P),"1.04,1.04(T,T)",0.0000(T),0.06,1.588573,4.94,4.94,-0.213000,1.420000,0.995000,0.498000,1.000000,1.000000,10.1589
stop_gained,NME8,NONSENSE,NM_016616.4:p.Arg534*/c.1600C>T,Cga/Tga,HIGH,,0.000798722,0.001,rs142525551,0.77(T),,,,,chr7,37936527,37936527,C,T,het,stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg534*/c.1600C>T|588|NME8|protein_coding|CODING|NM_016616.4|17|1),,,,,0,0,0,0.00,0.00,0.00,,0.311432(N),1.000(D),,,.,4.607058,5.54,2.45,0.655000,0.303000,-0.098000,0.025000,0.896000,0.004000,8.0457
synonymous_variant,NME8,SILENT,NM_016616.4:p.Leu535Leu/c.1603T>C,Ttg/Ctg,LOW,COSM4004470(1),0.20647,0.2292,rs3213975,,,,,,chr7,37936530,37936530,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu535Leu/c.1603T>C|588|NME8|protein_coding|CODING|NM_016616.4|17|1),,,,,0.2055,0.2017,0.2396,0.23,0.21,0.24,,,,,,,,,,,,,,,,
missense_variant,SFRP4,MISSENSE,NM_003014.3:p.Arg340Lys/c.1019G>A,aGa/aAa,MODERATE,COSM3762656(1),0.252995,0.2619,rs1802074,0.62(T),0.0(B),0(N),-0.9560(T),,chr7,37947103,37947103,C,T,het,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg340Lys/c.1019G>A|346|SFRP4|protein_coding|CODING|NM_003014.3|6|1),,,,,0.1339,0.1772,0.2217,0.24,0.34,0.19,,0.142610(N),1.000(P),0.05(T),0.0000(T),0.015,-0.876652,5.68,0.881,-1.193000,-0.071000,0.505000,0.085000,0.016000,0.603000,9.5666
missense_variant,SFRP4,MISSENSE,NM_003014.3:p.Pro320Thr/c.958C>A,Cct/Act,MODERATE,COSM3736442(1),0.542732,0.5635,rs1802073,1(T),0.0(B),0.345(N),-0.9151(T),,chr7,37947164,37947164,G,T,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro320Thr/c.958C>A|346|SFRP4|protein_coding|CODING|NM_003014.3|6|1),HUVEC:H3K27me3,,,,0.5511,0.5519,0.3877,0.43,0.57,0.36,,0.393962(N),0.000(P),0.01(T),0.0000(T),0.069,1.667161,5.83,3.05,0.650000,0.371000,0.326000,0.931000,0.662000,0.784000,4.4667
synonymous_variant,SFRP4,SILENT,NM_003014.3:p.Arg262Arg/c.786C>T,cgC/cgT,LOW,,0.439097,0.3651,rs1132553,,,,,,chr7,37951726,37951726,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg262Arg/c.786C>T|346|SFRP4|protein_coding|CODING|NM_003014.3|4|1),HUVEC:H3K27me3,,,,0.3446,0.451,0.5825,0.57,0.48,0.61,,,,,,,,,,,,,,,,
synonymous_variant,SFRP4,SILENT,NM_003014.3:p.Thr189Thr/c.567G>A,acG/acA,LOW,COSM4162196(1),0.54393,0.6339,rs1132552,,,,,,chr7,37953840,37953840,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr189Thr/c.567G>A|346|SFRP4|protein_coding|CODING|NM_003014.3|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3",,,,0.6472,0.5461,0.4165,0.42,0.47,0.39,,,,,,,,,,,,,,,,
synonymous_variant,EPDR1,SILENT,NM_017549.4:p.Ile139Ile/c.417C>T,atC/atT,LOW,COSM1450599(1),0.658946,0.5933,rs2044831,,,,,,chr7,37988589,37988589,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile78Ile/c.234C>T|163|EPDR1|protein_coding|CODING|NM_001242948.1|2|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile139Ile/c.417C>T|224|EPDR1|protein_coding|CODING|NM_017549.4|2|1),intron_variant(MODIFIER|||c.270-1213C>T|90|EPDR1|protein_coding|CODING|NM_001242946.1|1|1)","HSMM:H3K36me3,HepG2:H3K36me3",,,,0.7382,0.7493,0.7813,0.70,0.56,0.77,,,,,,,,,,,,,,,,
missense_variant,TARP,MISSENSE,NM_001003806.1:p.Arg100Gly/c.298A>G,Aga/Gga,MODERATE,,,,rs138027161,,,,,,chr7,38299727,38299727,T,C,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg100Gly/c.298A>G|111|TARP|protein_coding|CODING|NM_001003806.1|4|1),3_prime_UTR_variant(MODIFIER||5364|c.*294A>G|58|TARP|protein_coding|CODING|NM_001003799.1|4|1)","GM12878:H3K36me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TARP,SILENT,NM_001003806.1:p.Asn4Asn/c.12C>T,aaC/aaT,LOW,COSN168023,0.125998,0.1736,rs2007081,,,,,,chr7,38305083,38305083,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn4Asn/c.12C>T|111|TARP|protein_coding|CODING|NM_001003806.1|2|1),3_prime_UTR_variant(MODIFIER||8|c.*8C>T|58|TARP|protein_coding|CODING|NM_001003799.1|2|1)",,,,,0.2086,0.0965,0.1243,0.10,0.05,0.13,,,,,,,,,,,,,,,,
synonymous_variant,TARP,SILENT,NM_001003799.1:p.Gly42Gly/c.126C>G,ggC/ggG,LOW,COSN168024,0.206869,0.1944,rs113809137,,,,,,chr7,38305142,38305142,G,C,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly42Gly/c.126C>G|58|TARP|protein_coding|CODING|NM_001003799.1|2|1),5_prime_UTR_variant(MODIFIER||48|c.-48C>G|111|TARP|protein_coding|CODING|NM_001003806.1|2|1)",,,,,0.2648,0.1686,0.2515,0.21,0.17,0.23,,,,,,,,,,,,,,,,
synonymous_variant,AMPH,SILENT,NM_001635.3:p.Ser599Ser/c.1797T>C,tcT/tcC,LOW,,0.0698882,0.1409,rs6949992,,,,-1.0246(T),,chr7,38431430,38431430,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser599Ser/c.1797T>C|695|AMPH|protein_coding|CODING|NM_001635.3|19|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser557Ser/c.1671T>C|653|AMPH|protein_coding|CODING|NM_139316.2|18|1)",HepG2:H3K27me3,,,,0.0542,0.0663,0.1044,0.07,0.02,0.10,,,0.976(P),,0.0003(T),.,0.505457,5.36,-7.88,-0.353000,-0.924000,-1.089000,0.017000,0.000000,0.000000,2.0014
missense_variant,AMPH,MISSENSE,NM_001635.3:p.Lys496Thr/c.1487A>C,aAg/aCg,MODERATE,COSM4004473(2),0.0700879,0.1825,rs35024632,0.58(T),,0.805(L),-1.0896(T),,chr7,38433726,38433726,T,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys496Thr/c.1487A>C|695|AMPH|protein_coding|CODING|NM_001635.3|18|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys454Thr/c.1361A>C|653|AMPH|protein_coding|CODING|NM_139316.2|17|1)",HepG2:H3K27me3,,,,0.0583,0.0519,0.0726,0.05,0.01,0.07,,,1.000(P),1.35(T),0.0003(T),.,0.998033,5.93,2.1,0.460000,1.076000,1.415000,0.444000,0.894000,0.378000,3.6841
synonymous_variant,YAE1D1,SILENT,NM_020192.4:p.Ala30Ala/c.90G>A,gcG/gcA,LOW,COSM3762659(2),0.155351,0.1131,rs1051162,,,,,,chr7,39606107,39606107,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala30Ala/c.90G>A|206|YAE1D1|protein_coding|CODING|NM_001282446.1|1|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala30Ala/c.90G>A|226|YAE1D1|protein_coding|CODING|NM_020192.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.1237,0.072,0.0984,0.14,0.23,0.09,,,,,,,,,,,,,,,,
missense_variant,YAE1D1,MISSENSE,NM_020192.4:p.Lys68Glu/c.202A>G,Aaa/Gaa,MODERATE,COSM3762661(1),0.154952,0.1131,rs6947660,1(T),0.001(B),-1.995(N),-0.9543(T),,chr7,39610177,39610177,A,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys68Glu/c.202A>G|206|YAE1D1|protein_coding|CODING|NM_001282446.1|2|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys68Glu/c.202A>G|226|YAE1D1|protein_coding|CODING|NM_020192.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1217,0.072,0.0984,0.14,0.23,0.09,,0.000186(N),1.000(P),"1.14,1.14,1.14(T,T,T)",0.0000(T),0.061,0.306799,6.02,4.12,-0.790000,0.897000,1.236000,0.960000,0.999000,1.000000,8.356
synonymous_variant,SUGCT,SILENT,NM_001193311.1:p.Leu243Leu/c.729A>G,ctA/ctG,LOW,,0.342252,0.5,rs4637704,,,,-0.9213(T),,chr7,40314243,40314243,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu243Leu/c.729A>G|471|SUGCT|protein_coding|CODING|NM_001193311.1|8|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu243Leu/c.729A>G|445|SUGCT|protein_coding|CODING|NM_001193313.1|8|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu206Leu/c.618A>G|434|SUGCT|protein_coding|CODING|NM_024728.2|8|1),intron_variant(MODIFIER|||c.597+36918A>G|397|SUGCT|protein_coding|CODING|NM_001193312.1|7|1)",HSMM:H3K36me3,,,,0.4008,0.3573,0.2863,0.28,0.25,0.30,,,0.000(P),,0.0000(T),.,0.768527,5.45,-3.31,0.533000,-0.385000,0.023000,0.851000,0.989000,0.962000,8.8185
synonymous_variant,SUGCT,SILENT,NM_001193311.1:p.Pro435Pro/c.1305G>C,ccG/ccC,LOW,,,,rs2010706,,,,,,chr7,40899967,40899967,G,C,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro435Pro/c.1305G>C|471|SUGCT|protein_coding|CODING|NM_001193311.1|15|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro361Pro/c.1083G>C|397|SUGCT|protein_coding|CODING|NM_001193312.1|13|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro409Pro/c.1227G>C|445|SUGCT|protein_coding|CODING|NM_001193313.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro398Pro/c.1194G>C|434|SUGCT|protein_coding|CODING|NM_024728.2|15|1)","NHEK:H3K27ac,HMEC:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,,,,0.30,0.22,0.34,,,,,,,,,,,,,,,,
missense_variant,GLI3,MISSENSE,NM_000168.5:p.Pro998Leu/c.2993C>T,cCg/cTg,MODERATE,COSM3750024(11),0.421526,0.7688,rs929387,0.5(T),0.001(B),-0.025(N),-1.0409(T),,chr7,42005678,42005678,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro998Leu/c.2993C>T|1580|GLI3|protein_coding|CODING|NM_000168.5|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.5082,0.4424,0.3161,0.26,0.18,0.29,,0.005158(N),0.000(P),2.44(T),0.0000(T),0.014,-0.494582,4.98,3.83,-0.471000,0.733000,4.758000,0.021000,0.171000,1.000000,5.4162
missense_variant,GLI3,MISSENSE,NM_000168.5:p.Thr183Ala/c.547A>G,Act/Gct,MODERATE,COSM3762667(1),0.603634,0.5665,rs846266,1(T),0.0(B),-1.445(N),-0.9627(T),,chr7,42088222,42088222,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr183Ala/c.547A>G|1580|GLI3|protein_coding|CODING|NM_000168.5|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4346,0.3833,0.5755,0.66,0.85,0.56,,0.000046(N),0.000(P),1.28(T),0.0000(T),0.032,0.054227,5.13,3.22,-0.186000,0.225000,3.147000,0.865000,0.666000,0.994000,8.7561
missense_variant,C7orf25,MISSENSE,NM_001099858.1:p.Pro51Leu/c.152C>T,cCg/cTg,MODERATE,COSM3762669(4),0.630391,0.8115,rs647117,0.14(T),,,-1.0441(T),,chr7,42951515,42951515,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro51Leu/c.152C>T|479|C7orf25|protein_coding|CODING|NM_001099858.1|1|1),splice_region_variant(LOW|||c.152C>T|479|C7orf25|protein_coding|CODING|NM_001099858.1|1|1),splice_region_variant(LOW||||421|C7orf25|protein_coding|CODING|NM_024054.2|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||421|C7orf25|protein_coding|CODING|NM_024054.2|1|1),5_prime_UTR_variant(MODIFIER||1016|c.-18C>T|421|C7orf25|protein_coding|CODING|NM_024054.2|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:THAP1,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4",,,,0.7965,0.6441,0.7942,,,,,,0.000(P),0.92(T),0.0000(T),0.024,3.315246,4.32,-8.46,0.455000,-1.368000,-1.574000,0.890000,0.336000,0.031000,8.9128
synonymous_variant,MRPL32,SILENT,NM_031903.2:p.Thr161Thr/c.483G>A,acG/acA,LOW,COSM3762670(1),0.850839,0.9107,rs631132,,,,,,chr7,42977091,42977091,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr161Thr/c.483G>A|188|MRPL32|protein_coding|CODING|NM_031903.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9202,0.7637,0.8718,0.84,0.79,0.86,,,,,,,,,,,,,,,,
missense_variant,HECW1,MISSENSE,NM_015052.4:p.Gly404Arg/c.1210G>C,Ggt/Cgt,MODERATE,,0.0932508,0.0089,rs61756574,0.17(T),"0.021,0.029(B,B)",0.895(L),-1.0505(T),,chr7,43483981,43483981,G,C,het,"missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly404Arg/c.1210G>C|1572|HECW1|protein_coding|CODING|NM_001287059.1|10|1),missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly404Arg/c.1210G>C|1606|HECW1|protein_coding|CODING|NM_015052.4|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.183,0.1081,0.1909,0.14,0.03,0.19,,0.000304(N),1.000(P),"1.55,1.53(T,T)",0.0001(T),0.124,1.963650,5.4,-3.65,0.655000,-1.119000,-0.043000,0.002000,0.000000,0.000000,4.0835
synonymous_variant,HECW1,SILENT,NM_015052.4:p.Ser513Ser/c.1539T>C,tcT/tcC,LOW,COSM3774286(1),0.295128,0.1508,rs73098706,,,,,,chr7,43484310,43484310,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser513Ser/c.1539T>C|1572|HECW1|protein_coding|CODING|NM_001287059.1|10|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser513Ser/c.1539T>C|1606|HECW1|protein_coding|CODING|NM_015052.4|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4151,0.2839,0.4155,0.34,0.24,0.39,,,,,,,,,,,,,,,,
synonymous_variant,HECW1,SILENT,NM_015052.4:p.Glu935Glu/c.2805A>G,gaA/gaG,LOW,,0.555312,0.3879,rs2304329,,,,,,chr7,43506059,43506059,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu901Glu/c.2703A>G|1572|HECW1|protein_coding|CODING|NM_001287059.1|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu935Glu/c.2805A>G|1606|HECW1|protein_coding|CODING|NM_015052.4|15|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7086,0.5533,0.6352,0.60,0.52,0.63,,,,,,,,,,,,,,,,
synonymous_variant,HECW1,SILENT,NM_015052.4:p.Arg1199Arg/c.3597A>C,cgA/cgC,LOW,COSM1131579(1),0.116414,0.0079,rs17339479,,,,,,chr7,43540887,43540887,A,C,het,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg1165Arg/c.3495A>C|1572|HECW1|protein_coding|CODING|NM_001287059.1|19|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg1199Arg/c.3597A>C|1606|HECW1|protein_coding|CODING|NM_015052.4|21|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.1748,0.1499,0.2068,0.16,0.08,0.20,,,,,,,,,,,,,,,,
missense_variant,STK17A,MISSENSE,NM_004760.2:p.Lys362Glu/c.1084A>G,Aag/Gag,MODERATE,,0.820887,0.6746,rs1044141,1(T),0.0(B),-0.975(N),-0.9404(T),,chr7,43664280,43664280,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys362Glu/c.1084A>G|414|STK17A|protein_coding|CODING|NM_004760.2|7|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8354,0.8516,0.7465,0.82,0.93,0.77,,0.000220(N),0.998(P),-0.17(T),0.0000(T),0.027,-1.883960,4.86,1.04,-0.981000,-0.362000,1.079000,0.145000,0.001000,0.859000,9.6298
missense_variant,BLVRA,MISSENSE,NM_000712.3:p.Ala3Thr/c.7G>A,Gca/Aca,MODERATE,,0.821086,0.6825,rs699512,1(T),0.0(B),0.41(N),-0.9561(T),,chr7,43810764,43810764,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala3Thr/c.7G>A|296|BLVRA|protein_coding|CODING|NM_000712.3|2|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala3Thr/c.7G>A|296|BLVRA|protein_coding|CODING|NM_001253823.1|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8364,0.8487,0.7465,0.82,0.93,0.77,,0.780983(N),1.000(P),"1.92,1.92,1.92(T,T,T)",0.0000(T),0.282,-2.021544,3.24,1.38,-1.390000,0.068000,-0.547000,0.441000,0.078000,0.038000,7.6037
synonymous_variant,BLVRA,SILENT,NM_000712.3:p.Leu59Leu/c.175T>C,Ttg/Ctg,LOW,COSM150274(1),0.105831,0.0804,rs1802846,,,,,,chr7,43830888,43830888,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu59Leu/c.175T>C|296|BLVRA|protein_coding|CODING|NM_000712.3|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu59Leu/c.175T>C|296|BLVRA|protein_coding|CODING|NM_001253823.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0634,0.1671,0.1213,0.11,0.10,0.11,,,,,,,,,,,,,,,,
synonymous_variant,BLVRA,SILENT,NM_000712.3:p.Val203Val/c.609G>A,gtG/gtA,LOW,COSM150275(1),0.0898562,0.0804,rs1131372,,,,,,chr7,43843423,43843423,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val203Val/c.609G>A|296|BLVRA|protein_coding|CODING|NM_000712.3|7|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val203Val/c.609G>A|296|BLVRA|protein_coding|CODING|NM_001253823.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0624,0.1657,0.1223,0.09,0.05,0.11,,,,,,,,,,,,,,,,
synonymous_variant,URGCP,SILENT,NM_001077663.2:p.Asp857Asp/c.2571C>T,gaC/gaT,LOW,COSM3762674(1),0.0730831,0.0149,rs2232109,,,,,,chr7,43916491,43916491,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp857Asp/c.2571C>T|931|URGCP|protein_coding|CODING|NM_001077663.2|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp814Asp/c.2442C>T|888|URGCP|protein_coding|CODING|NM_001077664.2|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp814Asp/c.2442C>T|888|URGCP|protein_coding|CODING|NM_001290075.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp814Asp/c.2442C>T|888|URGCP|protein_coding|CODING|NM_001290076.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp848Asp/c.2544C>T|922|URGCP|protein_coding|CODING|NM_017920.4|5|1),intron_variant(MODIFIER|||c.175+4767C>T|110|URGCP-MRPS24|protein_coding|CODING|NM_001204871.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1237,0.0908,0.1292,0.10,0.05,0.13,,,,,,,,,,,,,,,,
missense_variant,URGCP,MISSENSE,NM_001077663.2:p.Met779Leu/c.2335A>C,Atg/Ctg,MODERATE,COSM3768381(2),0.510982,0.5764,rs2232108,0.03(D),"0.001,0.001(B,B)",1.39(L),-0.9470(T),,chr7,43916727,43916727,T,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met779Leu/c.2335A>C|931|URGCP|protein_coding|CODING|NM_001077663.2|6|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met736Leu/c.2206A>C|888|URGCP|protein_coding|CODING|NM_001077664.2|6|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met736Leu/c.2206A>C|888|URGCP|protein_coding|CODING|NM_001290075.1|6|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met736Leu/c.2206A>C|888|URGCP|protein_coding|CODING|NM_001290076.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met770Leu/c.2308A>C|922|URGCP|protein_coding|CODING|NM_017920.4|5|1),intron_variant(MODIFIER|||c.175+4531A>C|110|URGCP-MRPS24|protein_coding|CODING|NM_001204871.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6462,0.5231,0.4602,0.44,0.38,0.47,,0.005730(N),0.000(P),"0.27,0.27,0.27,0.27,0.27,0.27(T,T,T,T,T,T)",0.0000(T),0.135,2.491278,5.41,3.0,0.482000,0.854000,0.607000,0.991000,0.979000,0.219000,3.0295
synonymous_variant,URGCP,SILENT,NM_001077663.2:p.His683His/c.2049C>T,caC/caT,LOW,COSM3724090(4),0.492412,0.5764,rs2232105,,,,,,chr7,43917013,43917013,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His683His/c.2049C>T|931|URGCP|protein_coding|CODING|NM_001077663.2|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His640His/c.1920C>T|888|URGCP|protein_coding|CODING|NM_001077664.2|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His640His/c.1920C>T|888|URGCP|protein_coding|CODING|NM_001290075.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His640His/c.1920C>T|888|URGCP|protein_coding|CODING|NM_001290076.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His674His/c.2022C>T|922|URGCP|protein_coding|CODING|NM_017920.4|5|1),intron_variant(MODIFIER|||c.175+4245C>T|110|URGCP-MRPS24|protein_coding|CODING|NM_001204871.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6462,0.5173,0.4602,0.42,0.32,0.47,,,,,,,,,,,,,,,,
synonymous_variant,URGCP,SILENT,NM_001077663.2:p.His596His/c.1788T>C,caT/caC,LOW,,0.744609,0.7282,rs2232103,,,,,,chr7,43917274,43917274,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His596His/c.1788T>C|931|URGCP|protein_coding|CODING|NM_001077663.2|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His553His/c.1659T>C|888|URGCP|protein_coding|CODING|NM_001077664.2|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His553His/c.1659T>C|888|URGCP|protein_coding|CODING|NM_001290075.1|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His553His/c.1659T>C|888|URGCP|protein_coding|CODING|NM_001290076.1|7|1),synonymous_variant(LOW|SILENT|caT/caC|p.His587His/c.1761T>C|922|URGCP|protein_coding|CODING|NM_017920.4|5|1),intron_variant(MODIFIER|||c.175+3984T>C|110|URGCP-MRPS24|protein_coding|CODING|NM_001204871.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7832,0.7104,0.675,0.72,0.81,0.68,,,,,,,,,,,,,,,,
missense_variant,AEBP1,MISSENSE,NM_001129.4:p.Pro273Thr/c.817C>A,Ccc/Acc,MODERATE,COSM453091(2),0.357428,0.2738,rs2537188,0.1(T),0.01(B),0.55(N),-0.9808(T),,chr7,44147485,44147485,C,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro273Thr/c.817C>A|1158|AEBP1|protein_coding|CODING|NM_001129.4|5|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.4969,0.2695,0.3519,0.37,0.35,0.37,,0.000008(N),1.000(P),1.05(T),0.0000(T),0.021,0.778353,4.54,1.41,0.491000,0.318000,0.387000,0.361000,0.074000,0.001000,7.7789
synonymous_variant,AEBP1,SILENT,NM_001129.4:p.Thr332Thr/c.996A>G,acA/acG,LOW,COSM4162221(1),0.788738,0.8522,rs2595701,,,,-1.0277(T),,chr7,44148553,44148553,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr332Thr/c.996A>G|1158|AEBP1|protein_coding|CODING|NM_001129.4|7|1),upstream_gene_variant(MODIFIER||1895|||MIR4649||NON_CODING|NR_039792.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3,K562:DNase1",,,,0.6963,0.7939,0.6799,0.74,0.86,0.68,,,0.000(P),,0.0000(T),.,0.826281,4.53,-4.51,-0.858000,-1.169000,-0.664000,0.874000,0.044000,0.001000,2.78
missense_variant,AEBP1,MISSENSE,NM_001129.4:p.Lys1133Glu/c.3397A>G,Aaa/Gaa,MODERATE,,0.36861,0.2629,rs13928,1(T),"0.0,0.0(B,B)",-0.55(N),-0.9023(T),,chr7,44153780,44153780,A,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1133Glu/c.3397A>G|1158|AEBP1|protein_coding|CODING|NM_001129.4|21|1),downstream_gene_variant(MODIFIER||499||469|POLD2|protein_coding|CODING|NM_001127218.2||1),downstream_gene_variant(MODIFIER||499||469|POLD2|protein_coding|CODING|NM_001256879.1||1),downstream_gene_variant(MODIFIER||499||504|POLD2|protein_coding|CODING|NM_006230.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3119,0.4006,0.4583,0.46,0.42,0.48,,0.000000(N),1.000(P),"-3.36,-2.79(D,D)",0.0000(T),0.052,-0.506908,3.7,3.7,-0.355000,0.921000,1.342000,0.002000,0.003000,0.689000,7.4085
synonymous_variant,CAMK2B,SILENT,NM_001220.4:p.Asn652Asn/c.1956C>T,aaC/aaT,LOW,COSM3762677(4),0.339058,0.3879,rs1065359,,,,,,chr7,44259706,44259706,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn652Asn/c.1956C>T|666|CAMK2B|protein_coding|CODING|NM_001220.4|23|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn528Asn/c.1584C>T|542|CAMK2B|protein_coding|CODING|NM_001293170.1|20|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn528Asn/c.1584C>T|542|CAMK2B|protein_coding|CODING|NM_172078.2|20|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn504Asn/c.1512C>T|518|CAMK2B|protein_coding|CODING|NM_172079.2|19|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn503Asn/c.1509C>T|517|CAMK2B|protein_coding|CODING|NM_172080.2|19|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn489Asn/c.1467C>T|503|CAMK2B|protein_coding|CODING|NM_172081.2|18|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn478Asn/c.1434C>T|492|CAMK2B|protein_coding|CODING|NM_172082.2|19|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn465Asn/c.1395C>T|479|CAMK2B|protein_coding|CODING|NM_172083.2|17|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn435Asn/c.1305C>T|449|CAMK2B|protein_coding|CODING|NM_172084.2|15|1)",IMR90:H3K27me3,,,,0.4724,0.3213,0.4085,0.35,0.22,0.42,,,,,,,,,,,,,,,,
synonymous_variant,CAMK2B,SILENT,NM_001220.4:p.Pro597Pro/c.1791G>A,ccG/ccA,LOW,COSM453109(5),0.341653,0.3998,rs1127065,,,,,,chr7,44259871,44259871,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro597Pro/c.1791G>A|666|CAMK2B|protein_coding|CODING|NM_001220.4|23|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro473Pro/c.1419G>A|542|CAMK2B|protein_coding|CODING|NM_001293170.1|20|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro473Pro/c.1419G>A|542|CAMK2B|protein_coding|CODING|NM_172078.2|20|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro449Pro/c.1347G>A|518|CAMK2B|protein_coding|CODING|NM_172079.2|19|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro448Pro/c.1344G>A|517|CAMK2B|protein_coding|CODING|NM_172080.2|19|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro434Pro/c.1302G>A|503|CAMK2B|protein_coding|CODING|NM_172081.2|18|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro423Pro/c.1269G>A|492|CAMK2B|protein_coding|CODING|NM_172082.2|19|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro410Pro/c.1230G>A|479|CAMK2B|protein_coding|CODING|NM_172083.2|17|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro380Pro/c.1140G>A|449|CAMK2B|protein_coding|CODING|NM_172084.2|15|1)","IMR90:H3K27me3,H1ESC:Nrsf,HepG2:H3K27me3",Metabolic_syndrome,,,0.4611,0.3213,0.4076,0.36,0.23,0.43,,,,,,,,,,,,,,,,
synonymous_variant,CAMK2B,SILENT,NM_001220.4:p.Pro194Pro/c.582T>C,ccT/ccC,LOW,COSM3762678(1),0.335663,0.2222,rs11542228,,,,,,chr7,44282868,44282868,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|666|CAMK2B|protein_coding|CODING|NM_001220.4|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|542|CAMK2B|protein_coding|CODING|NM_001293170.1|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|542|CAMK2B|protein_coding|CODING|NM_172078.2|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|518|CAMK2B|protein_coding|CODING|NM_172079.2|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|517|CAMK2B|protein_coding|CODING|NM_172080.2|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|503|CAMK2B|protein_coding|CODING|NM_172081.2|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|492|CAMK2B|protein_coding|CODING|NM_172082.2|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|479|CAMK2B|protein_coding|CODING|NM_172083.2|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro194Pro/c.582T>C|449|CAMK2B|protein_coding|CODING|NM_172084.2|8|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.4427,0.317,0.4245,0.40,0.31,0.44,,,,,,,,,,,,,,,,
synonymous_variant,CAMK2B,SILENT,NM_001220.4:p.Tyr191Tyr/c.573T>C,taT/taC,LOW,COSM3762679(1),0.209864,0.1131,rs11542227,,,,,,chr7,44282877,44282877,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|666|CAMK2B|protein_coding|CODING|NM_001220.4|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|542|CAMK2B|protein_coding|CODING|NM_001293170.1|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|542|CAMK2B|protein_coding|CODING|NM_172078.2|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|518|CAMK2B|protein_coding|CODING|NM_172079.2|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|517|CAMK2B|protein_coding|CODING|NM_172080.2|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|503|CAMK2B|protein_coding|CODING|NM_172081.2|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|492|CAMK2B|protein_coding|CODING|NM_172082.2|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|479|CAMK2B|protein_coding|CODING|NM_172083.2|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr191Tyr/c.573T>C|449|CAMK2B|protein_coding|CODING|NM_172084.2|8|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.2986,0.2233,0.3588,0.28,0.13,0.36,,,,,,,,,,,,,,,,
synonymous_variant,DDX56,SILENT,NM_019082.3:p.Val505Val/c.1515G>A,gtG/gtA,LOW,COSM453115(5),0.75619,0.8393,rs6656,,,,,,chr7,44606098,44606098,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val465Val/c.1395G>A|507|DDX56|protein_coding|CODING|NM_001257189.1|12|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val505Val/c.1515G>A|547|DDX56|protein_coding|CODING|NM_019082.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:SP1,K562:DNase1",,,,0.7045,0.6311,0.5746,0.68,0.86,0.59,,,,,,,,,,,,,,,,
missense_variant,ZMIZ2,MISSENSE,NM_031449.3:p.Leu408Phe/c.1224G>T,ttG/ttT,MODERATE,COSM4004486(2),0.15016,0.1429,rs3735478,0.35(T),"0.991,0.943,0.991(D,D,D)",1.61(L),-1.0306(T),,chr7,44800176,44800176,G,T,het,"missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu350Phe/c.1050G>T|862|ZMIZ2|protein_coding|CODING|NM_001300959.1|8|1),missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu408Phe/c.1224G>T|920|ZMIZ2|protein_coding|CODING|NM_031449.3|9|1),missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu382Phe/c.1146G>T|894|ZMIZ2|protein_coding|CODING|NM_174929.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1575,0.1873,0.3042,0.20,0.05,0.28,,0.000398(D),0.001(P),"0.68,0.68,0.68,0.68,0.68(T,T,T,T,T)",0.0000(T),0.209,3.226875,5.53,2.59,0.561000,0.705000,0.844000,0.767000,0.995000,1.000000,8.4087
synonymous_variant,PURB,SILENT,NM_033224.4:p.Ala107Ala/c.321T>G,gcT/gcG,LOW,COSM3750027(13),0.576877,0.2798,rs6966024,,,,,,chr7,44924627,44924627,A,C,hom,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala107Ala/c.321T>G|312|PURB|protein_coding|CODING|NM_033224.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,K562:H3K36me3,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,CD4:H2AK9ac,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6524,0.6888,0.8907,0.80,0.60,0.91,,,,,,,,,,,,,,,,
missense_variant,MYO1G,MISSENSE,NM_033054.2:p.Gln861Arg/c.2582A>G,cAg/cGg,MODERATE,,0.901558,0.8938,rs7792760,0.73(T),0.001(B),-1.265(N),-0.9809(T),,chr7,45004063,45004063,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln861Arg/c.2582A>G|1018|MYO1G|protein_coding|CODING|NM_033054.2|19|1),"K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.8824,0.8588,0.8489,0.88,0.96,0.84,,0.383960(N),1.000(P),-2.16(D),0.0000(T),0.037,-2.126850,3.57,-0.409,-2.820000,-0.232000,0.372000,0.051000,0.010000,0.055000,9.2934
synonymous_variant,MYO1G,SILENT,NM_033054.2:p.His494His/c.1482C>T,caC/caT,LOW,COSM3762680(1),0.417732,0.6081,rs3735484,,,,,,chr7,45009325,45009325,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His494His/c.1482C>T|1018|MYO1G|protein_coding|CODING|NM_033054.2|11|1),"GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,GM12878:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3988,0.3732,0.4085,0.38,0.32,0.41,,,,,,,,,,,,,,,,
missense_variant,MYO1G,MISSENSE,NM_033054.2:p.Met489Thr/c.1466T>C,aTg/aCg,MODERATE,COSM4162234(1),0.900559,0.8938,rs3735485,0.34(T),"0.0,0.0(B,B)",-0.83(N),-0.9910(T),,chr7,45009341,45009341,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met489Thr/c.1466T>C|1018|MYO1G|protein_coding|CODING|NM_033054.2|11|1),"GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,GM12878:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8824,0.8602,0.8439,0.88,0.96,0.84,,0.118720(N),1.000(P),-0.5(T),0.0000(T),0.056,-0.596128,4.92,4.04,-0.994000,0.617000,-0.340000,0.277000,0.251000,0.997000,5.173
synonymous_variant,MYO1G,SILENT,NM_033054.2:p.Asn416Asn/c.1248C>T,aaC/aaT,LOW,COSM3762681(2),0.583666,0.7619,rs11555636,,,,,,chr7,45009723,45009723,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn416Asn/c.1248C>T|1018|MYO1G|protein_coding|CODING|NM_033054.2|10|1),"GM12878:H3K36me3,CD4:H4K20me1,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5634,0.611,0.5596,0.55,0.49,0.58,,,,,,,,,,,,,,,,
missense_variant,NACAD,MISSENSE,NM_001146334.1:p.Asp1105Glu/c.3315T>G,gaT/gaG,MODERATE,COSM3762684(2),0.485623,0.3026,rs10243185,1(T),0.0(B),-0.55(N),-0.9838(T),,chr7,45122464,45122464,A,C,het,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp1105Glu/c.3315T>G|1562|NACAD|protein_coding|CODING|NM_001146334.1|2|1),"HSMM:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.5337,0.464,0.3877,0.48,0.66,0.41,,,1.000(P),3.0(T),0.0000(T),0.006,-1.239931,3.42,0.273,-0.757000,-0.358000,-1.091000,0.003000,0.000000,0.000000,5.8426
missense_variant,NACAD,MISSENSE,NM_001146334.1:p.Ala1019Val/c.3056C>T,gCg/gTg,MODERATE,COSM3762685(2),0.240415,0.2877,rs61740895,1(T),0.002(B),-0.345(N),-0.9477(T),,chr7,45122723,45122723,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1019Val/c.3056C>T|1562|NACAD|protein_coding|CODING|NM_001146334.1|2|1),"IMR90:H3K36me3,HeLa-S3:Ap2alpha,HepG2:H3K27me3",,,,0.2843,0.3833,0.332,0.27,0.08,0.35,,0.153903(U),1.000(P),2.78(T),0.0000(T),0.018,0.621835,3.79,1.97,-0.480000,0.395000,-0.103000,0.004000,0.000000,0.000000,3.6281
missense_variant,NACAD,MISSENSE,NM_001146334.1:p.Pro897Ser/c.2689C>T,Cca/Tca,MODERATE,COSM4162236(2),0.278155,0.2887,rs10276748,0.42(T),0.122(B),0.695(N),-1.0370(T),,chr7,45123090,45123090,G,A,het,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro897Ser/c.2689C>T|1562|NACAD|protein_coding|CODING|NM_001146334.1|2|1),"IMR90:H3K36me3,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HepG2:H3K27me3",,,,0.2863,0.402,0.333,,,,,,1.000(P),2.71(T),0.0177(T),0.054,1.335108,2.87,1.85,0.462000,1.577000,-0.188000,0.007000,0.002000,0.000000,9.0881
missense_variant,NACAD,MISSENSE,NM_001146334.1:p.Lys591Glu/c.1771A>G,Aaa/Gaa,MODERATE,,0.636581,0.378,rs7777835,1(T),0.0(B),-0.695(N),-1.0060(T),,chr7,45124008,45124008,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys591Glu/c.1771A>G|1562|NACAD|protein_coding|CODING|NM_001146334.1|2|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6503,0.6585,0.6431,,,,,,1.000(P),2.91(T),0.0000(T),0.057,-1.724949,1.15,1.15,-0.724000,0.078000,0.163000,0.026000,0.058000,0.001000,3.6638
missense_variant,NACAD,MISSENSE,NM_001146334.1:p.Val498Ala/c.1493T>C,gTg/gCg,MODERATE,COSM3762687(2),0.332468,0.2857,rs3735494,0.77(T),0.0(B),0.345(N),-0.9924(T),,chr7,45124286,45124286,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val498Ala/c.1493T>C|1562|NACAD|protein_coding|CODING|NM_001146334.1|2|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.2894,0.4164,0.335,0.36,0.39,0.35,,,1.000(P),2.78(T),0.0000(T),0.007,-2.391135,2.54,-5.08,-5.108000,-4.430000,-2.043000,0.002000,0.000000,0.000000,5.5272
missense_variant,NACAD,MISSENSE,NM_001146334.1:p.Asp438Glu/c.1314T>A,gaT/gaA,MODERATE,COSM3762688(2),0.277756,0.2857,rs3735495,1(T),0.0(B),-0.205(N),-0.9425(T),,chr7,45124465,45124465,A,T,het,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp438Glu/c.1314T>A|1562|NACAD|protein_coding|CODING|NM_001146334.1|2|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.2863,0.402,0.334,0.31,0.21,0.35,,,1.000(P),2.88(T),0.0000(T),0.012,-1.301109,2.6,-5.2,-1.400000,-2.714000,-1.322000,0.006000,0.000000,0.000000,0.0621
missense_variant,TBRG4,MISSENSE,NM_001261834.1:p.Pro68Leu/c.203C>T,cCg/cTg,MODERATE,COSM150279(1),0.126398,0.1766,rs2304693,0.66(T),"0.0,0.0,0.0(B,B,B)",-1.95(N),-0.9716(T),,chr7,45148667,45148667,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro68Leu/c.203C>T|642|TBRG4|protein_coding|CODING|NM_001261834.1|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro57Leu/c.170C>T|631|TBRG4|protein_coding|CODING|NM_004749.3|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro57Leu/c.170C>T|521|TBRG4|protein_coding|CODING|NM_030900.3|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro57Leu/c.170C>T|521|TBRG4|protein_coding|CODING|NM_199122.2|2|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,K562:H3K4me2",,,,0.1319,0.2205,0.161,0.12,0.04,0.17,,0.043251(N),1.000(P),"2.66,2.66,2.66,2.66,2.66,2.66,2.66,2.66,2.66(T,T,T,T,T,T,T,T,T)",0.0000(T),0.134,-2.226503,5.52,-1.62,-1.117000,-0.524000,0.010000,0.001000,0.000000,0.000000,0.1625
missense_variant,TBRG4,MISSENSE,NM_001261834.1:p.Ala33Ser/c.97G>T,Gcc/Tcc,MODERATE,COSM150280(1),0.126198,0.1766,rs2304694,0.78(T),"0.051,0.159,0.031(B,B,B)",2.125(M),-1.0607(T),,chr7,45148773,45148773,C,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala33Ser/c.97G>T|642|TBRG4|protein_coding|CODING|NM_001261834.1|2|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala22Ser/c.64G>T|631|TBRG4|protein_coding|CODING|NM_004749.3|2|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala22Ser/c.64G>T|521|TBRG4|protein_coding|CODING|NM_030900.3|2|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala22Ser/c.64G>T|521|TBRG4|protein_coding|CODING|NM_199122.2|2|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.1319,0.2205,0.162,0.12,0.04,0.17,,0.359114(N),1.000(P),"0.68,0.68,0.68,0.68,0.68,0.68,0.68,0.68(T,T,T,T,T,T,T,T)",0.0002(T),0.11,2.212885,5.64,2.59,0.655000,0.699000,-0.097000,0.647000,0.135000,0.000000,7.3904
synonymous_variant,RAMP3,SILENT,NM_005856.2:p.Glu2Glu/c.6G>A,gaG/gaA,LOW,COSM3762689(3),0.248403,0.0159,rs67477213,,,,,,chr7,45197433,45197433,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2Glu/c.6G>A|148|RAMP3|protein_coding|CODING|NM_005856.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2352,0.1657,0.2276,0.23,0.33,0.18,,,,,,,,,,,,,,,,
synonymous_variant,ADCY1,SILENT,NM_001281768.1:p.Thr338Thr/c.1014G>A,acG/acA,LOW,,0.472644,0.3343,rs1042009,,,,,,chr7,45703971,45703971,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr338Thr/c.1014G>A|338|ADCY1|protein_coding|CODING|NM_001281768.1|10|1),intron_variant(MODIFIER|||c.1605+2158G>A|1119|ADCY1|protein_coding|CODING|NM_021116.2|8|1)","H1ESC:H3K36me3,GM06990:H3K36me3",,,,0.7065,0.6282,0.6849,,,,,,,,,,,,,,,,,,,
synonymous_variant,TNS3,SILENT,NM_022748.11:p.Asn1312Asn/c.3936T>C,aaT/aaC,LOW,COSM4162251(1),0.702077,0.6319,rs3750164,,,,,,chr7,47323456,47323456,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1312Asn/c.3936T>C|1445|TNS3|protein_coding|CODING|NM_022748.11|28|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.6892,0.7781,0.6819,0.70,0.75,0.67,,,,,,,,,,,,,,,,
synonymous_variant,TNS3,SILENT,NM_022748.11:p.Glu974Glu/c.2922G>A,gaG/gaA,LOW,,0.108626,0.0744,rs3807589,,,,,,chr7,47343083,47343083,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu974Glu/c.2922G>A|1445|TNS3|protein_coding|CODING|NM_022748.11|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.1339,0.0548,0.0716,0.09,0.14,0.07,,,,,,,,,,,,,,,,
synonymous_variant,TNS3,SILENT,NM_022748.11:p.Gly738Gly/c.2214T>C,ggT/ggC,LOW,,0.629593,0.4603,rs2255744,,,,,,chr7,47408029,47408029,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly738Gly/c.2214T>C|1445|TNS3|protein_coding|CODING|NM_022748.11|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.6859,0.833,0.76,0.62,0.83,,,,,,,,,,,,,,,,
synonymous_variant,TNS3,SILENT,NM_022748.11:p.Ala423Ala/c.1269A>T,gcA/gcT,LOW,,0.635583,0.4593,rs1534136,,,,,,chr7,47408974,47408974,T,A,hom,synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala423Ala/c.1269A>T|1445|TNS3|protein_coding|CODING|NM_022748.11|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.6859,0.833,0.76,0.62,0.83,,,,,,,,,,,,,,,,
synonymous_variant,TNS3,SILENT,NM_022748.11:p.Ser308Ser/c.924C>T,tcC/tcT,LOW,COSM3762691(1),0.110823,0.0764,rs17544028,,,,,,chr7,47436497,47436497,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser308Ser/c.924C>T|1445|TNS3|protein_coding|CODING|NM_022748.11|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.1513,0.159,0.12,0.05,0.16,,,,,,,,,,,,,,,,
synonymous_variant,C7orf65,SILENT,NM_001123065.1:p.Gly105Gly/c.315A>G,ggA/ggG,LOW,COSN168045,0.159944,0.1905,rs12531737,,,,,,chr7,47698685,47698685,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly105Gly/c.315A>G|151|C7orf65|protein_coding|CODING|NM_001123065.1|3|1),NHEK:H3K27me3,,,,0.1677,0.2594,0.2286,0.19,0.07,0.25,,,,,,,,,,,,,,,,
missense_variant,C7orf69,MISSENSE,NM_025031.2:p.Lys32Glu/c.94A>G,Aag/Gag,MODERATE,,0.665335,0.6528,rs9719534,1(T),0.0(B),0(N),-0.9139(T),,chr7,47835027,47835027,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys32Glu/c.94A>G|122|C7orf69|protein_coding|CODING|NM_025031.2|1|1),intron_variant(MODIFIER|||c.8355+560T>C|2849|PKD1L1|protein_coding|CODING|NM_138295.3|55|1)","HSMM:H3K27ac,IMR90:H3K56ac,IMR90:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H4K91ac,IMR90:H3K18ac,IMR90:H3K4me3",,,,0.6339,0.6643,0.7416,,,,,,1.000(P),0.6(T),0.0000(T),0.092,-1.449419,0.235,-0.47,-1.741000,-1.765000,-1.494000,0.001000,0.001000,0.000000,.
synonymous_variant,PKD1L1,SILENT,NM_138295.3:p.Cys1965Cys/c.5895C>T,tgC/tgT,LOW,,0.0169728,0.002,rs17131842,,,,,,chr7,47876567,47876567,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1965Cys/c.5895C>T|2849|PKD1L1|protein_coding|CODING|NM_138295.3|37|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.002,0.036,0.0527,0.05,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,PKD1L1,MISSENSE,NM_138295.3:p.Pro1278Gln/c.3833C>A,cCg/cAg,MODERATE,,0.0922524,0.0823,rs78833972,0.06(T),0.997(D),1.845(L),-0.9041(T),,chr7,47913560,47913560,G,T,het,missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro1278Gln/c.3833C>A|2849|PKD1L1|protein_coding|CODING|NM_138295.3|24|1),"HeLa-S3:DNase1,HUVEC:H3K27me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1738,0.1643,0.0905,0.07,0.02,0.10,,0.009502(N),0.000(P),-0.29(T),0.0084(T),0.186,3.220644,4.28,4.28,0.563000,2.300000,1.433000,0.782000,0.316000,0.908000,15.0055
missense_variant,PKD1L1,MISSENSE,NM_138295.3:p.Lys1272Glu/c.3814A>G,Aaa/Gaa,MODERATE,,0.91853,0.9742,rs1470859,0.3(T),0.0(B),0.205(N),-0.9733(T),,chr7,47913579,47913579,T,C,hom,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys1272Glu/c.3814A>G|2849|PKD1L1|protein_coding|CODING|NM_138295.3|24|1),"HUVEC:H3K27me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8671,0.9121,0.83,0.87,0.96,0.83,,0.006969(N),1.000(P),-0.56(T),0.0000(T),0.034,-2.070591,4.54,-9.08,-2.706000,-1.865000,-1.957000,0.079000,0.000000,0.000000,4.8483
synonymous_variant,PKD1L1,SILENT,NM_138295.3:p.Gly1271Gly/c.3813C>T,ggC/ggT,LOW,COSM3762697(1),0.304313,0.0962,rs73105162,,,,,,chr7,47913580,47913580,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1271Gly/c.3813C>T|2849|PKD1L1|protein_coding|CODING|NM_138295.3|24|1),"HUVEC:H3K27me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.317,0.3357,0.2932,0.33,0.42,0.28,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L1,SILENT,NM_138295.3:p.Tyr1167Tyr/c.3501C>T,taC/taT,LOW,COSM3762698(2),0.340056,0.0952,rs386491956,,,,,,chr7,47920345,47920345,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1167Tyr/c.3501C>T|2849|PKD1L1|protein_coding|CODING|NM_138295.3|21|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3006,0.3429,0.2932,0.37,0.55,0.28,,,,,,,,,,,,,,,,
missense_variant,PKD1L1,MISSENSE,NM_138295.3:p.Arg1053Pro/c.3158G>C,cGc/cCc,MODERATE,COSM4004488(1),0.585264,0.6359,rs10274334,0.56(T),0.0(B),-0.69(N),-0.9970(T),,chr7,47925331,47925331,C,G,het,missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg1053Pro/c.3158G>C|2849|PKD1L1|protein_coding|CODING|NM_138295.3|18|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3701,0.5706,0.4592,0.53,0.73,0.42,,0.063933(N),1.000(P),2.16(T),0.0000(T),0.071,0.574944,4.04,-1.82,-0.132000,-0.514000,-0.274000,0.106000,0.000000,0.000000,3.3665
missense_variant,PKD1L1,MISSENSE,NM_138295.3:p.Val312Phe/c.934G>T,Gtt/Ttt,MODERATE,COSM3762699(2),0.484824,0.5089,rs2686817,0(D),0.994(D),0.805(L),-0.9425(T),,chr7,47968927,47968927,C,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val312Phe/c.934G>T|2849|PKD1L1|protein_coding|CODING|NM_138295.3|7|1),"GM12878:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3845,0.5072,0.505,0.49,0.50,0.49,,0.000357(N),1.000(P),0.98(T),0.0000(T),0.19,2.335500,3.97,2.03,0.579000,0.395000,0.448000,0.015000,0.002000,0.000000,5.4202
synonymous_variant,PKD1L1,SILENT,NM_138295.3:p.Cys159Cys/c.477T>C,tgT/tgC,LOW,COSM4162258(1),0.478834,0.5149,rs885337,,,,,,chr7,47971575,47971575,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys159Cys/c.477T>C|2849|PKD1L1|protein_coding|CODING|NM_138295.3|5|1),"GM12878:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3937,0.5231,0.5219,0.49,0.47,0.51,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L1,SILENT,NM_138295.3:p.Ile142Ile/c.426C>T,atC/atT,LOW,COSM4004489(1),0.146166,0.251,rs885338,,,,,,chr7,47971626,47971626,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile142Ile/c.426C>T|2849|PKD1L1|protein_coding|CODING|NM_138295.3|5|1),"GM12878:H3K27me3,HUVEC:H3K36me3,HSMM:DNase1,NH-A:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1524,0.1383,0.0676,0.11,0.14,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HUS1,SILENT,NM_004507.3:p.Ala278Ala/c.834G>A,gcG/gcA,LOW,COSM3762702(1),0.423323,0.5119,rs1056663,,,,,,chr7,48004962,48004962,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala278Ala/c.834G>A|280|HUS1|protein_coding|CODING|NM_004507.3|8|1),non_coding_exon_variant(MODIFIER|||n.998G>A||HUS1||CODING|NR_037917.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.4928,0.5189,0.44,0.32,0.51,,,,,,,,,,,,,,,,
missense_variant,C7orf57,MISSENSE,NM_001100159.2:p.Pro124Leu/c.371C>T,cCg/cTg,MODERATE,COSM3762705(2),0.821286,0.745,rs2708912,0.08(T),0.275(B),2.57(M),-1.0592(T),,chr7,48086077,48086077,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro124Leu/c.371C>T|295|C7orf57|protein_coding|CODING|NM_001100159.2|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro2Leu/c.5C>T|157|C7orf57|protein_coding|CODING|NM_001267865.1|4|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro2Leu/c.5C>T|153|C7orf57|protein_coding|CODING|NM_001267866.1|4|1)","HUVEC:H3K27me3,CD4:DNase1,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8067,0.8588,0.9543,0.87,0.77,0.93,,0.000004(D),0.000(P),"0.97,0.97,0.97,0.97,0.97(T,T,T,T,T)",0.0000(T),0.704,4.251400,5.34,5.34,0.655000,2.643000,4.818000,0.853000,0.969000,0.998000,16.8864
missense_variant,C7orf57,MISSENSE,NM_001100159.2:p.Met152Thr/c.455T>C,aTg/aCg,MODERATE,COSM4004495(1),0.821086,0.744,rs10233232,0.67(T),"0.173,0.002(B,B)",1.445(L),-0.9024(T),,chr7,48086161,48086161,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met152Thr/c.455T>C|295|C7orf57|protein_coding|CODING|NM_001100159.2|5|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met30Thr/c.89T>C|157|C7orf57|protein_coding|CODING|NM_001267865.1|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met30Thr/c.89T>C|153|C7orf57|protein_coding|CODING|NM_001267866.1|4|1)","HUVEC:H3K27me3,CD4:DNase1,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,HepG2:H3K27me3",,,,0.8067,0.8588,0.9543,0.88,0.76,0.93,,0.032986(N),0.992(P),"0.93,0.93,0.93,0.93,0.93(T,T,T,T,T)",0.0000(T),0.183,1.511840,5.44,4.27,0.533000,0.977000,0.910000,0.957000,0.977000,0.994000,6.2752
synonymous_variant,C7orf57,SILENT,NM_001100159.2:p.Asn191Asn/c.573T>C,aaT/aaC,LOW,COSM4004496(1),0.82508,0.746,rs2686788,,,,,,chr7,48089542,48089542,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn191Asn/c.573T>C|295|C7orf57|protein_coding|CODING|NM_001100159.2|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn69Asn/c.207T>C|157|C7orf57|protein_coding|CODING|NM_001267865.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn69Asn/c.207T>C|153|C7orf57|protein_coding|CODING|NM_001267866.1|5|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.7975,0.8602,0.9543,0.88,0.78,0.93,,,,,,,,,,,,,,,,
missense_variant,C7orf57,MISSENSE,NM_001100159.2:p.Pro201His/c.602C>A,cCc/cAc,MODERATE,COSM4004498(1),0.821486,0.746,rs2708890,0.1(T),"0.976,0.13(D,B)",2.3(M),-1.0813(T),,chr7,48089571,48089571,C,A,hom,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro201His/c.602C>A|295|C7orf57|protein_coding|CODING|NM_001100159.2|6|1),missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro79His/c.236C>A|157|C7orf57|protein_coding|CODING|NM_001267865.1|5|1),missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro79His/c.236C>A|153|C7orf57|protein_coding|CODING|NM_001267866.1|5|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.7965,0.8602,0.9543,0.88,0.77,0.93,,0.000164(D),0.000(P),"0.48,0.48,0.48,0.48,0.48(T,T,T,T,T)",0.0000(T),0.277,1.941271,5.42,4.54,0.555000,1.299000,3.697000,0.043000,0.389000,0.969000,10.1343
synonymous_variant,C7orf57,SILENT,NM_001100159.2:p.Asp265Asp/c.795T>C,gaT/gaC,LOW,COSM4004500(1),0.825479,0.746,rs2686791,,,,,,chr7,48092486,48092486,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp265Asp/c.795T>C|295|C7orf57|protein_coding|CODING|NM_001100159.2|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp127Asp/c.381T>C|157|C7orf57|protein_coding|CODING|NM_001267865.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp127Asp/c.381T>C|153|C7orf57|protein_coding|CODING|NM_001267866.1|6|1)","HeLa-S3:DNase1,HeLa-S3:Jund,IMR90:DNase1,H1ESC:DNase1,NH-A:DNase1,HeLa-S3:Cfos,NHEK:DNase1",,,,0.8098,0.8602,0.9543,0.88,0.78,0.93,,,,,,,,,,,,,,,,
missense_variant,ABCA13,MISSENSE,NM_152701.4:p.Pro506Leu/c.1517C>T,cCg/cTg,MODERATE,COSM453164(2),0.40655,0.6181,rs1880738,0.69(T),0.0(B),0(N),-0.9512(T),,chr7,48285485,48285485,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro506Leu/c.1517C>T|5058|ABCA13|protein_coding|CODING|NM_152701.4|13|1),"GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.4959,0.4366,0.4115,0.35,0.18,0.43,,0.943236(N),1.000(P),-1.48(T),0.0000(T),0.041,1.276424,5.06,-2.68,-0.136000,-0.277000,0.065000,0.002000,0.002000,0.000000,0.6855
synonymous_variant,ABCA13,SILENT,NM_152701.4:p.Val1137Val/c.3411G>A,gtG/gtA,LOW,COSM150289(2),0.57528,0.7708,rs1358066,,,,,,chr7,48312674,48312674,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1137Val/c.3411G>A|5058|ABCA13|protein_coding|CODING|NM_152701.4|17|1),,,,,0.5685,0.5101,0.4632,0.49,0.50,0.49,,,,,,,,,,,,,,,,
missense_variant,ABCA13,MISSENSE,NM_152701.4:p.His1416Arg/c.4247A>G,cAt/cGt,MODERATE,,0.1873,0.0129,rs17547830,,0.003(B),0.83(L),-1.0313(T),,chr7,48313510,48313510,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1416Arg/c.4247A>G|5058|ABCA13|protein_coding|CODING|NM_152701.4|17|1),,,,,0.1871,0.2032,0.3917,0.30,0.19,0.35,,0.478767(N),1.000(P),-1.94(D),0.0000(T),0.077,-0.188874,5.04,-7.5,-0.464000,-1.571000,-0.100000,0.035000,0.000000,0.000000,2.3723
synonymous_variant,ABCA13,SILENT,NM_152701.4:p.Gly1845Gly/c.5535G>T,ggG/ggT,LOW,,0.216454,0.0119,rs13233225,,,,,,chr7,48314798,48314798,G,T,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1845Gly/c.5535G>T|5058|ABCA13|protein_coding|CODING|NM_152701.4|17|1),,,,,0.1871,0.2147,0.3926,0.33,0.29,0.35,,,,,,,,,,,,,,,,
missense_variant,ABCA13,MISSENSE,NM_152701.4:p.Ala2178Glu/c.6533C>A,gCa/gAa,MODERATE,,0.812899,0.9881,rs1880736,,0.0(B),-1.905(N),-0.9817(T),,chr7,48315796,48315796,C,A,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala2178Glu/c.6533C>A|5058|ABCA13|protein_coding|CODING|NM_152701.4|17|1),,,,,0.8108,0.7954,0.6083,0.70,0.81,0.64,,0.015208(N),1.000(P),3.62(T),0.0000(T),0.026,-1.936584,4.99,4.99,-0.512000,0.852000,1.125000,0.083000,0.002000,0.918000,10.3522
missense_variant,ABCA13,MISSENSE,NM_152701.4:p.Arg2674Trp/c.8020C>T,Cgg/Tgg,MODERATE,,0.852236,0.9921,rs2222648,1(T),0.0(B),-0.695(N),-0.9468(T),,chr7,48318811,48318811,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg2674Trp/c.8020C>T|5058|ABCA13|protein_coding|CODING|NM_152701.4|18|1),,,,,0.8824,0.8429,0.7167,0.77,0.82,0.75,,0.860065(N),1.000(P),0.91(T),0.0000(T),0.096,-2.486075,4.93,-1.29,-1.135000,-0.345000,-0.309000,0.006000,0.015000,0.005000,0.2942
synonymous_variant,ABCA13,SILENT,NM_152701.4:p.Leu3045Leu/c.9135C>T,ctC/ctT,LOW,,0.76897,0.9881,rs6583546,,,,,,chr7,48336844,48336844,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu3045Leu/c.9135C>T|5058|ABCA13|protein_coding|CODING|NM_152701.4|22|1),,,,,0.8057,0.7781,0.5934,0.65,0.68,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ABCA13,SILENT,NM_152701.4:p.Ala4037Ala/c.12111T>C,gcT/gcC,LOW,COSM3982229(1),0.46266,0.5784,rs17548783,,,,,,chr7,48450157,48450157,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4037Ala/c.12111T>C|5058|ABCA13|protein_coding|CODING|NM_152701.4|40|1),H1ESC:CTCF,,,,0.2975,0.5202,0.4692,0.47,0.46,0.47,,,,,,,,,,,,,,,,
missense_variant,ABCA13,MISSENSE,NM_152701.4:p.Lys4446Glu/c.13336A>G,Aag/Gag,MODERATE,,1,1,rs6583448,1(T),"0.0,0.0,0.0(B,B,B)",-2.5(N),-0.9386(T),,chr7,48545976,48545976,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys4446Glu/c.13336A>G|5058|ABCA13|protein_coding|CODING|NM_152701.4|49|1),,,,,1,1,1,,,,,0.000470(N),1.000(P),"-2.24,-2.24,-2.24(D,D,D)",0.0000(T),0.272,-1.009490,5.04,5.04,-0.349000,1.122000,4.263000,0.079000,0.993000,1.000000,11.1091
missense_variant,VWC2,MISSENSE,NM_198570.3:p.Ala120Gly/c.359C>G,gCg/gGg,MODERATE,COSM3750031(6),0.494209,0.3968,rs769604,0.42(T),0.0(B),0(N),-0.9683(T),,chr7,49815390,49815390,C,G,het,missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala120Gly/c.359C>G|325|VWC2|protein_coding|CODING|NM_198570.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4724,0.4078,0.4871,0.58,0.65,0.54,,0.158862(N),1.000(P),1.51(T),0.0000(T),0.008,0.865456,5.07,-9.54,-1.336000,-2.449000,0.016000,0.512000,0.029000,0.002000,1.1051
missense_variant,C7orf72,MISSENSE,NM_001161834.2:p.Thr268Ala/c.802A>G,Acc/Gcc,MODERATE,COSM1137701(2),0.586262,0.745,rs998928,0.75(T),0.0(B),-1.1(N),-0.9789(T),,chr7,50173777,50173777,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr268Ala/c.802A>G|438|C7orf72|protein_coding|CODING|NM_001161834.2|4|1),,,,,0.4714,0.598,0.4205,0.48,0.62,0.42,,,1.000(P),,0.0000(T),0.045,-1.317521,5.78,4.79,-0.128000,1.438000,2.477000,0.040000,0.886000,0.935000,5.9319
missense_variant,IKZF1,MISSENSE,NM_001291845.1:p.Arg164Gly/c.490A>G,Aga/Gga,MODERATE,,0.717652,0.5506,rs10899750,0(D),0.0(B),,-0.9682(T),,chr7,50436033,50436033,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg164Gly/c.490A>G|174|IKZF1|protein_coding|CODING|NM_001291845.1|4|1),intron_variant(MODIFIER|||c.161-8198A>G|477|IKZF1|protein_coding|CODING|NM_001220765.2|3|1),intron_variant(MODIFIER|||c.161-8198A>G|432|IKZF1|protein_coding|CODING|NM_001220768.2|2|1),intron_variant(MODIFIER|||c.161-8198A>G|376|IKZF1|protein_coding|CODING|NM_001220771.2|2|1),intron_variant(MODIFIER|||c.161-8198A>G|477|IKZF1|protein_coding|CODING|NM_001291837.1|3|1),intron_variant(MODIFIER|||c.161-8198A>G|519|IKZF1|protein_coding|CODING|NM_006060.5|3|1),intron_variant(MODIFIER|||c.161-14205A>G|422|IKZF1|protein_coding|CODING|NM_001220767.2|2|1),intron_variant(MODIFIER|||c.161-14205A>G|380|IKZF1|protein_coding|CODING|NM_001220770.2|2|1),intron_variant(MODIFIER|||c.161-14205A>G|432|IKZF1|protein_coding|CODING|NM_001291838.1|3|1),intron_variant(MODIFIER|||c.161-14205A>G|390|IKZF1|protein_coding|CODING|NM_001291839.1|3|1),intron_variant(MODIFIER|||c.161-19010A>G|376|IKZF1|protein_coding|CODING|NM_001291841.1|2|1),intron_variant(MODIFIER|||c.161-19010A>G|366|IKZF1|protein_coding|CODING|NM_001291842.1|2|1),intron_variant(MODIFIER|||c.161-23394A>G|334|IKZF1|protein_coding|CODING|NM_001291843.1|2|1),intron_variant(MODIFIER|||c.161-23394A>G|324|IKZF1|protein_coding|CODING|NM_001291844.1|2|1),intron_variant(MODIFIER|||c.161-31583A>G|289|IKZF1|protein_coding|CODING|NM_001291840.1|2|1),intron_variant(MODIFIER|||c.220+270A>G|77|IKZF1|protein_coding|CODING|NM_001291846.1|4|1),intron_variant(MODIFIER|||c.220+270A>G|77|IKZF1|protein_coding|CODING|NM_001291847.1|4|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K27ac,CD4:H4K12ac,CD4:H3K36me3,GM06990:H3K36me3",,,,0.5736,0.7291,0.7117,,,,,,1.000(P),,0.0000(T),0.041,-0.545230,3.13,-6.26,-2.635000,-4.429000,-2.131000,0.000000,0.000000,0.000000,3.3839
synonymous_variant,IKZF1,SILENT,NM_006060.5:p.Pro334Pro/c.1002C>A,ccC/ccA,LOW,COSM453203(1),0.148962,0.0546,rs61731355,,,,,,chr7,50467767,50467767,C,A,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro292Pro/c.876C>A|477|IKZF1|protein_coding|CODING|NM_001220765.2|7|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro237Pro/c.711C>A|422|IKZF1|protein_coding|CODING|NM_001220767.2|6|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro247Pro/c.741C>A|432|IKZF1|protein_coding|CODING|NM_001220768.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro195Pro/c.585C>A|380|IKZF1|protein_coding|CODING|NM_001220770.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro191Pro/c.573C>A|376|IKZF1|protein_coding|CODING|NM_001220771.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro292Pro/c.876C>A|477|IKZF1|protein_coding|CODING|NM_001291837.1|7|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro247Pro/c.741C>A|432|IKZF1|protein_coding|CODING|NM_001291838.1|7|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro205Pro/c.615C>A|390|IKZF1|protein_coding|CODING|NM_001291839.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro104Pro/c.312C>A|289|IKZF1|protein_coding|CODING|NM_001291840.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro191Pro/c.573C>A|376|IKZF1|protein_coding|CODING|NM_001291841.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro181Pro/c.543C>A|366|IKZF1|protein_coding|CODING|NM_001291842.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro149Pro/c.447C>A|334|IKZF1|protein_coding|CODING|NM_001291843.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro139Pro/c.417C>A|324|IKZF1|protein_coding|CODING|NM_001291844.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro334Pro/c.1002C>A|519|IKZF1|protein_coding|CODING|NM_006060.5|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2086,0.196,0.2296,0.16,0.10,0.18,,,,,,,,,,,,,,,,
missense_variant,DDC,MISSENSE,NM_000790.3:p.Met17Val/c.49A>G,Atg/Gtg,MODERATE,,0.993211,1,rs386602114,0.53(T),0.0(B),-1.725(N),-0.9771(T),,chr7,50611735,50611735,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|480|DDC|protein_coding|CODING|NM_000790.3|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|480|DDC|protein_coding|CODING|NM_001082971.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|442|DDC|protein_coding|CODING|NM_001242886.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|432|DDC|protein_coding|CODING|NM_001242887.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|402|DDC|protein_coding|CODING|NM_001242888.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|387|DDC|protein_coding|CODING|NM_001242889.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met17Val/c.49A>G|338|DDC|protein_coding|CODING|NM_001242890.1|2|1),downstream_gene_variant(MODIFIER||574|||DDC-AS1||NON_CODING|NR_033845.1||1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,1,0.998,0.99,0.98,1.00,,0.005512(N),0.999(P),"1.31,1.31,1.31,1.31,1.31,1.32(T,T,T,T,T,T)",0.0000(T),0.432,0.941291,5.92,0.418,-0.726000,-0.190000,-0.603000,0.578000,0.778000,0.000000,10.9778
synonymous_variant,GRB10,SILENT,NM_005311.4:p.Asp549Asp/c.1647C>T,gaC/gaT,LOW,,0.0776757,0.0565,rs3807550,,,,,,chr7,50660787,50660787,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp503Asp/c.1509C>T|548|GRB10|protein_coding|CODING|NM_001001549.2|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp491Asp/c.1473C>T|536|GRB10|protein_coding|CODING|NM_001001550.2|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp491Asp/c.1473C>T|536|GRB10|protein_coding|CODING|NM_001001555.2|17|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp549Asp/c.1647C>T|594|GRB10|protein_coding|CODING|NM_005311.4|16|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.1493,0.0965,0.1113,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,GRB10,SILENT,NM_005311.4:p.Ala449Ala/c.1347A>G,gcA/gcG,LOW,,0.874601,0.9415,rs4947710,,,,,,chr7,50673029,50673029,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala403Ala/c.1209A>G|548|GRB10|protein_coding|CODING|NM_001001549.2|11|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala391Ala/c.1173A>G|536|GRB10|protein_coding|CODING|NM_001001550.2|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala391Ala/c.1173A>G|536|GRB10|protein_coding|CODING|NM_001001555.2|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala449Ala/c.1347A>G|594|GRB10|protein_coding|CODING|NM_005311.4|12|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8517,0.8862,0.8867,0.88,0.83,0.91,,,,,,,,,,,,,,,,
synonymous_variant,GRB10,SILENT,NM_005311.4:p.Pro105Pro/c.315G>A,ccG/ccA,LOW,COSM3762737(3),0.532548,0.4028,rs1800504,,,,,,chr7,50742180,50742180,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro105Pro/c.315G>A|548|GRB10|protein_coding|CODING|NM_001001549.2|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro47Pro/c.141G>A|536|GRB10|protein_coding|CODING|NM_001001550.2|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro47Pro/c.141G>A|536|GRB10|protein_coding|CODING|NM_001001555.2|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro105Pro/c.315G>A|594|GRB10|protein_coding|CODING|NM_005311.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4928,0.5288,0.5328,0.60,0.67,0.56,,,,,,,,,,,,,,,,
synonymous_variant,COBL,SILENT,NM_015198.3:p.Ala1187Ala/c.3561T>A,gcT/gcA,LOW,COSM4162287(1),0.888379,0.7242,rs2240087,,,,,,chr7,51093013,51093013,A,T,hom,"synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala1187Ala/c.3561T>A|1261|COBL|protein_coding|CODING|NM_015198.3|12|1),intron_variant(MODIFIER|||c.3676-85T>A|1271|COBL|protein_coding|CODING|NM_001287436.1|12|1)","H1ESC:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HepG2:H3K36me3",,,,0.908,0.8876,0.9443,0.94,0.96,0.94,,,,,,,,,,,,,,,,
missense_variant,COBL,MISSENSE,NM_001287436.1:p.His1217Tyr/c.3649C>T,Cac/Tac,MODERATE,COSM3762739(1),0.0313498,0.001,rs61737954,0.12(T),"0.994,0.994,0.984,0.994,0.999(D,D,D,D,D)",1.04(L),-1.0714(T),,chr7,51094269,51094269,G,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His1217Tyr/c.3649C>T|1271|COBL|protein_coding|CODING|NM_001287436.1|12|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His1160Tyr/c.3478C>T|1261|COBL|protein_coding|CODING|NM_015198.3|11|1)","H1ESC:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0757,0.0245,0.0606,0.06,0.02,0.08,,0.000526(D),1.000(D),"0.96,0.96,0.96,0.96(T,T,T,T)",0.0137(T),0.357,2.788493,5.0,5.0,0.563000,2.294000,7.524000,0.033000,0.891000,1.000000,15.0181
synonymous_variant,COBL,SILENT,NM_001287436.1:p.Ala949Ala/c.2847C>T,gcC/gcT,LOW,,0.00319489,0,rs117980855,,,,,,chr7,51096117,51096117,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala949Ala/c.2847C>T|1271|COBL|protein_coding|CODING|NM_001287436.1|11|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala892Ala/c.2676C>T|1261|COBL|protein_coding|CODING|NM_015198.3|10|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0,0.0086,0.0089,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,COBL,MISSENSE,NM_001287436.1:p.Val664Ile/c.1990G>A,Gtc/Atc,MODERATE,,0.608227,0.4643,rs2240090,,,-1.1(N),-0.9026(T),,chr7,51096974,51096974,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val664Ile/c.1990G>A|1271|COBL|protein_coding|CODING|NM_001287436.1|11|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val607Ile/c.1819G>A|1261|COBL|protein_coding|CODING|NM_015198.3|10|1)","H1ESC:H3K36me3,HMEC:H3K27me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6022,0.5937,0.6938,0.68,0.69,0.67,,,1.000(P),,0.0000(T),.,-0.855524,5.82,-11.6,-3.861000,-8.048000,-4.240000,0.000000,0.000000,0.000000,6.3893
missense_variant,COBL,MISSENSE,NM_001287436.1:p.Asp634Ala/c.1901A>C,gAc/gCc,MODERATE,COSM4162290(1),0.984026,0.999,rs10230120,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.04(N),-0.9776(T),,chr7,51097063,51097063,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp634Ala/c.1901A>C|1271|COBL|protein_coding|CODING|NM_001287436.1|11|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp577Ala/c.1730A>C|1261|COBL|protein_coding|CODING|NM_015198.3|10|1)","H1ESC:H3K36me3,HMEC:H3K27me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9898,0.9524,0.9662,0.97,0.99,0.96,,0.301636(N),1.000(P),"2.12,2.12,2.12,2.12(T,T,T,T)",0.0000(T),0.169,-0.548330,5.82,3.95,-0.127000,0.807000,0.270000,0.049000,0.011000,0.000000,12.0515
synonymous_variant,COBL,SILENT,NM_001287436.1:p.Ser71Ser/c.213T>C,agT/agC,LOW,COSM453217(1),0.75639,0.7817,rs801142,,,,,,chr7,51287470,51287470,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser71Ser/c.213T>C|1271|COBL|protein_coding|CODING|NM_001287436.1|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser71Ser/c.213T>C|379|COBL|protein_coding|CODING|NM_001287438.1|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser71Ser/c.213T>C|1261|COBL|protein_coding|CODING|NM_015198.3|2|1)","GM12878:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7096,0.804,0.7425,0.74,0.74,0.74,,,,,,,,,,,,,,,,
missense_variant,POM121L12,MISSENSE,NM_182595.3:p.Ala3Ser/c.7G>T,Gct/Tct,MODERATE,,0.301318,0.4315,rs72598684,0.15(T),0.785(P),0(N),-0.9379(T),,chr7,53103371,53103371,G,T,het,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala3Ser/c.7G>T|296|POM121L12|protein_coding|CODING|NM_182595.3|1|1),,,,,0.455,0.2334,0.2833,0.21,0.14,0.24,,,1.000(P),1.57(T),0.0000(T),0.062,1.110853,1.66,-0.285,0.462000,-0.090000,-1.106000,0.008000,0.003000,0.000000,4.0677
synonymous_variant,POM121L12,SILENT,NM_182595.3:p.Pro6Pro/c.18G>T,ccG/ccT,LOW,,0.302915,0.4325,rs72598685,,,,,,chr7,53103382,53103382,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro6Pro/c.18G>T|296|POM121L12|protein_coding|CODING|NM_182595.3|1|1),,,,,0.4571,0.2349,0.2853,0.21,0.14,0.25,,,,,,,,,,,,,,,,
missense_variant,POM121L12,MISSENSE,NM_182595.3:p.Gln64Glu/c.190C>G,Cag/Gag,MODERATE,COSM3762745(1),0.335463,0.3095,rs11238247,0.02(D),0.168(B),0(N),-0.9414(T),,chr7,53103554,53103554,C,G,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln64Glu/c.190C>G|296|POM121L12|protein_coding|CODING|NM_182595.3|1|1),,,,,0.3323,0.4323,0.4861,0.42,0.22,0.51,,,1.000(P),1.91(T),0.0000(T),0.058,0.517760,1.11,1.11,0.313000,0.903000,0.130000,0.006000,0.002000,0.000000,5.5761
synonymous_variant,POM121L12,SILENT,NM_182595.3:p.Gly69Gly/c.207G>A,ggG/ggA,LOW,COSM3762746(2),0.328674,0.3026,rs11238248,,,,,,chr7,53103571,53103571,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly69Gly/c.207G>A|296|POM121L12|protein_coding|CODING|NM_182595.3|1|1),,,,,0.3323,0.4308,0.4861,0.41,0.21,0.51,,,,,,,,,,,,,,,,
synonymous_variant,POM121L12,SILENT,NM_182595.3:p.Pro103Pro/c.309C>A,ccC/ccA,LOW,COSM3762747(5),0.485823,0.5992,rs1184320,,,,,,chr7,53103673,53103673,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro103Pro/c.309C>A|296|POM121L12|protein_coding|CODING|NM_182595.3|1|1),,,,,0.6135,0.3444,0.3688,0.38,0.44,0.35,,,,,,,,,,,,,,,,
synonymous_variant,POM121L12,SILENT,NM_182595.3:p.Gly194Gly/c.582G>C,ggG/ggC,LOW,COSM4162293(1),0.328874,0.3026,rs12113170,,,,,,chr7,53103946,53103946,G,C,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly194Gly/c.582G>C|296|POM121L12|protein_coding|CODING|NM_182595.3|1|1),,,,,0.3323,0.4308,0.4871,0.41,0.20,0.51,,,,,,,,,,,,,,,,
synonymous_variant,POM121L12,SILENT,NM_182595.3:p.Pro238Pro/c.714G>A,ccG/ccA,LOW,COSM453222(1),0.33127,0.4315,rs72598686,,,,,,chr7,53104078,53104078,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro238Pro/c.714G>A|296|POM121L12|protein_coding|CODING|NM_182595.3|1|1),,,,,0.4714,0.2464,0.2982,0.25,0.22,0.27,,,,,,,,,,,,,,,,
synonymous_variant,EGFR,SILENT,NM_005228.3:p.Asn158Asn/c.474C>T,aaC/aaT,LOW,COSM1451542(4),0.475439,0.3522,rs2072454,,,,,,chr7,55214348,55214348,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn158Asn/c.474C>T|1210|EGFR|protein_coding|CODING|NM_005228.3|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn158Asn/c.474C>T|628|EGFR|protein_coding|CODING|NM_201282.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn158Asn/c.474C>T|405|EGFR|protein_coding|CODING|NM_201283.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn158Asn/c.474C>T|705|EGFR|protein_coding|CODING|NM_201284.1|4|1)","NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5573,0.4928,0.4841,0.52,0.50,0.53,,,0.000(P),,,.,0.815468,5.6,1.99,-0.136000,0.544000,1.216000,0.655000,0.987000,0.692000,8.7571
synonymous_variant,EGFR,SILENT,NM_201284.1:p.His656His/c.1968C>T,caC/caT,LOW,COSM3762771(2),0.11242,0.0496,rs10258429,,,,,,chr7,55238087,55238087,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His656His/c.1968C>T|705|EGFR|protein_coding|CODING|NM_201284.1|16|1),downstream_gene_variant(MODIFIER||1759||628|EGFR|protein_coding|CODING|NM_201282.1||1),intron_variant(MODIFIER|||c.1881-781C>T|1210|EGFR|protein_coding|CODING|NM_005228.3|15|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.09,0.049,0.0736,0.12,0.21,0.07,,,,,,,,,,,,,,,,
synonymous_variant,EGFR,SILENT,NM_005228.3:p.Thr629Thr/c.1887T>A,acT/acA,LOW,COSM3762772(1),0.390375,0.5347,rs2227984,,,,,,chr7,55238874,55238874,T,A,het,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr629Thr/c.1887T>A|1210|EGFR|protein_coding|CODING|NM_005228.3|16|1),downstream_gene_variant(MODIFIER||136||705|EGFR|protein_coding|CODING|NM_201284.1||1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4376,0.3977,0.3559,0.32,0.28,0.35,,,,,,,,,,,,,,,,
synonymous_variant,EGFR,SILENT,NM_005228.3:p.Leu683Leu/c.2047C>T,Ctg/Ttg,LOW,,0.00139776,0,rs55669340,,,,,,chr7,55240803,55240803,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu683Leu/c.2047C>T|1210|EGFR|protein_coding|CODING|NM_005228.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0,0,0.006,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,EGFR,SILENT,NM_005228.3:p.Gln787Gln/c.2361G>A,caG/caA,LOW,COSM1451600(9),0.432708,0.1825,rs1050171,,,,,,chr7,55249063,55249063,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln787Gln/c.2361G>A|1210|EGFR|protein_coding|CODING|NM_005228.3|20|1),non_coding_exon_variant(MODIFIER|||n.1201C>T||EGFR-AS1||NON_CODING|NR_047551.1|2|1)","NHEK:CTCF,HepG2:p300,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000038427.1,,0.4468,0.5519,0.6074,0.54,0.42,0.60,,,,,,,,,,,,,,,,
synonymous_variant,EGFR,SILENT,NM_005228.3:p.Thr903Thr/c.2709T>C,acT/acC,LOW,,0.916733,0.9196,rs1140475,,,,,,chr7,55266417,55266417,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr903Thr/c.2709T>C|1210|EGFR|protein_coding|CODING|NM_005228.3|23|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000038451.1,,0.9397,0.8963,0.8907,0.89,0.92,0.87,,,,,,,,,,,,,,,,
synonymous_variant,EGFR,SILENT,NM_005228.3:p.Asp994Asp/c.2982C>T,gaC/gaT,LOW,COSM3762773(2),0.141773,0.247,rs2293347,,,,,,chr7,55268916,55268916,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp994Asp/c.2982C>T|1210|EGFR|protein_coding|CODING|NM_005228.3|25|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2301,0.1542,0.1113,0.07,0.03,0.09,,,,,,,,,,,,,,,,
synonymous_variant,ZNF713,SILENT,NM_182633.1:p.Cys390Cys/c.1170C>T,tgC/tgT,LOW,COSM3982234(1),0.34405,0.2976,rs34016595,,,,,,chr7,56007576,56007576,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys390Cys/c.1170C>T|430|ZNF713|protein_coding|CODING|NM_182633.1|4|1),"H1ESC:H3K36me3,K562:ZNF274",,,,0.3988,0.3256,0.2753,0.30,0.38,0.26,,,,,,,,,,,,,,,,
missense_variant,MRPS17,MISSENSE,NM_015969.2:p.Val71Ile/c.211G>A,Gtt/Att,MODERATE,,0.00279553,0,rs142912165,0.18(T),"0.24,0.39(B,B)",-0.08(N),0.0380(D),,chr7,56022689,56022689,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val71Ile/c.211G>A|130|MRPS17|protein_coding|CODING|NM_015969.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0058,0.0089,0.01,0.00,0.01,,0.001462(N),1.000(D),5.69(T),0.0019(T),0.143,4.919153,4.84,4.84,0.655000,2.518000,9.147000,0.984000,0.896000,1.000000,17.1471
synonymous_variant,PSPH,SILENT,NM_004577.3:p.Asp42Asp/c.126C>T,gaC/gaT,LOW,COSM3833040(1),,,rs75497420,,,,,,chr7,56088780,56088780,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp42Asp/c.126C>T|225|PSPH|protein_coding|CODING|NM_004577.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PSPH,SILENT,NM_004577.3:p.Val40Val/c.120T>A,gtT/gtA,LOW,COSM3762784(1),,,rs202027697,,,,,,chr7,56088786,56088786,A,T,het,synonymous_variant(LOW|SILENT|gtT/gtA|p.Val40Val/c.120T>A|225|PSPH|protein_coding|CODING|NM_004577.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PSPH,SILENT,NM_004577.3:p.Gly39Gly/c.117C>T,ggC/ggT,LOW,COSM3762785(2),,,rs199851385,,,,,,chr7,56088789,56088789,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly39Gly/c.117C>T|225|PSPH|protein_coding|CODING|NM_004577.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PSPH,MISSENSE,NM_004577.3:p.Asp32Gly/c.95A>G,gAt/gGt,MODERATE,COSM3762786(2),,,rs78599516,0(D),"0.938,0.938(D,D)",3.795(H),-1.3334(T),,chr7,56088811,56088811,T,C,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp32Gly/c.95A>G|225|PSPH|protein_coding|CODING|NM_004577.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.11,0.26,0.03,,0.000000(D),1.000(D),"-2.54,-2.54,-2.54,-1.91,-1.91(D,D,D,D,D)",0.0000(T),0.575,2.655594,5.6,4.44,-1.431000,0.409000,6.109000,0.010000,0.988000,1.000000,13.1471
missense_variant,PSPH,MISSENSE,NM_004577.3:p.Arg27Ser/c.81A>T,agA/agT,MODERATE,COSM3762787(2),,,rs74445297,0.32(T),"0.006,0.01(B,B)",1.52(L),-0.9398(T),,chr7,56088825,56088825,T,A,het,missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg27Ser/c.81A>T|225|PSPH|protein_coding|CODING|NM_004577.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000020(D),1.000(D),"-1.58,-1.58,-1.58,-1.79,-1.79(D,D,D,D,D)",0.0000(T),0.696,0.776745,5.6,0.722,0.482000,0.108000,0.542000,0.198000,0.998000,0.997000,8.7161
missense_variant,PSPH,MISSENSE,NM_004577.3:p.Val2Ile/c.4G>A,Gtc/Atc,MODERATE,COSM1568914(1),,,rs77329757,0.33(T),"0.004,0.004(B,B)",1.355(L),-0.6773(T),,chr7,56088902,56088902,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val2Ile/c.4G>A|225|PSPH|protein_coding|CODING|NM_004577.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.059892(N),0.982(N),"-1.63,-1.63,-1.63,-1.11,-1.11(D,D,D,T,T)",0.4008(T),0.243,1.870338,5.5,4.62,0.591000,1.325000,1.602000,0.681000,1.000000,1.000000,13.3091
synonymous_variant,CCT6A,SILENT,NM_001762.3:p.Val311Val/c.933T>C,gtT/gtC,LOW,,0.642173,0.7103,rs2230197,,,,,,chr7,56126360,56126360,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val266Val/c.798T>C|486|CCT6A|protein_coding|CODING|NM_001009186.1|7|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val311Val/c.933T>C|531|CCT6A|protein_coding|CODING|NM_001762.3|8|1),upstream_gene_variant(MODIFIER||1803|||SNORA15||NON_CODING|NR_002957.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5828,0.6614,0.6789,0.67,0.60,0.70,,,,,,,,,,,,,,,,
synonymous_variant,CCT6A,SILENT,NM_001762.3:p.Ser473Ser/c.1419A>G,tcA/tcG,LOW,,0.0926518,0.0159,rs4927,,,,,,chr7,56129511,56129511,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser428Ser/c.1284A>G|486|CCT6A|protein_coding|CODING|NM_001009186.1|11|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser473Ser/c.1419A>G|531|CCT6A|protein_coding|CODING|NM_001762.3|12|1),downstream_gene_variant(MODIFIER||1216|||SNORA15||NON_CODING|NR_002957.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0603,0.0375,0.0517,0.11,0.22,0.06,,,,,,,,,,,,,,,,
missense_variant,SUMF2,MISSENSE,NM_001130069.2:p.Asp70Glu/c.210C>A,gaC/gaA,MODERATE,,0.998802,1,rs4245575,1(T),"0.016,0.002,0.0,0.001,0.001,0.002(B,B,B,B,B,B)",-2.49(N),-0.9519(T),,chr7,56136260,56136260,C,A,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp70Glu/c.210C>A|305|SUMF2|protein_coding|CODING|NM_001042469.1|2|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp70Glu/c.210C>A|236|SUMF2|protein_coding|CODING|NM_001042470.1|2|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp70Glu/c.210C>A|358|SUMF2|protein_coding|CODING|NM_001130069.2|2|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp70Glu/c.210C>A|320|SUMF2|protein_coding|CODING|NM_015411.2|2|1),intron_variant(MODIFIER|||c.-41+4189C>A|213|SUMF2|protein_coding|CODING|NM_001146333.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.995,1.00,1.00,1.00,,0.000000(N),0.000(P),"-3.03,-3.03,-3.03,-3.03,-3.03,-3.03,-3.03,-3.03(D,D,D,D,D,D,D,D)",0.0000(T),0.194,-1.118066,5.01,0.954,-0.512000,0.043000,0.623000,0.261000,0.999000,0.998000,4.789
missense_variant,ZNF716,MISSENSE,NM_001159279.1:p.Val277Ala/c.830T>C,gTc/gCc,MODERATE,,0.421126,0.5397,rs10272498,1(T),0.0(B),-0.89(N),-0.9466(T),,chr7,57528997,57528997,T,C,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val277Ala/c.830T>C|495|ZNF716|protein_coding|CODING|NM_001159279.1|4|1),"K562:ZNF274,CD4:H4K20me3",,,,0.4346,0.4798,0.3797,0.38,0.35,0.39,,,1.000(P),1.37(T),0.0000(T),0.019,-2.103130,0.195,0.195,-0.665000,-0.675000,0.056000,0.009000,0.008000,0.000000,2.2355
missense_variant,ZNF716,MISSENSE,NM_001159279.1:p.Lys409Gln/c.1225A>C,Aaa/Caa,MODERATE,,0.421126,0.5397,rs13235676,0.09(T),0.119(B),1.74(L),-0.9372(T),,chr7,57529392,57529392,A,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys409Gln/c.1225A>C|495|ZNF716|protein_coding|CODING|NM_001159279.1|4|1),K562:ZNF274,,,,0.4346,0.4798,0.3797,0.38,0.35,0.39,,,1.000(P),2.19(T),0.0000(T),0.021,0.726705,0.195,0.195,0.254000,0.257000,-2.138000,0.191000,0.190000,0.000000,4.8229
synonymous_variant,ZNF727P,SILENT,NM_001159522.1:p.Ala65Ala/c.195G>A,gcG/gcA,LOW,,0.562101,0.4315,rs4349869,,,,,,chr7,63529956,63529956,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala65Ala/c.195G>A|499|ZNF727P|protein_coding|CODING|NM_001159522.1|3|1),,,,,0.6002,0.6354,0.668,0.63,0.50,0.68,,,,,,,,,,,,,,,,
missense_variant,ZNF727P,MISSENSE,NM_001159522.1:p.Arg141His/c.422G>A,cGt/cAt,MODERATE,,0.628395,0.6091,rs4717170,,0.001(B),1.18(L),-0.9369(T),,chr7,63537849,63537849,G,A,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg141His/c.422G>A|499|ZNF727P|protein_coding|CODING|NM_001159522.1|4|1),,,,,0.6186,0.7406,0.668,0.64,0.55,0.68,,,1.000(P),2.41(T),0.0000(T),0.055,-0.447231,0.575,-1.15,-2.902000,-2.450000,1.472000,0.002000,0.000000,0.753000,.
missense_variant,ZNF735P,MISSENSE,NM_001159524.1:p.Ser102Gly/c.304A>G,Agc/Ggc,MODERATE,,0.672724,0.7798,rs10270226,,,,,,chr7,63679733,63679733,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser102Gly/c.304A>G|412|ZNF735P|protein_coding|CODING|NM_001159524.1|4|1),,,,,0.5818,0.6873,0.6471,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF679,MISSENSE,NM_153363.2:p.Glu69Gly/c.206A>G,gAg/gGg,MODERATE,COSM1137726(1),0.198083,0.0099,rs12154540,0.01(D),0.004(B),3.025(M),-1.0212(T),,chr7,63721251,63721251,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu69Gly/c.206A>G|411|ZNF679|protein_coding|CODING|NM_153363.2|4|1),,,,,0.2239,0.2478,0.2575,0.27,0.24,0.28,,,1.000(P),"5.25,5.25(T,T)",0.0000(T),0.058,0.235343,0.235,0.235,0.260000,0.263000,1.689000,0.062000,0.059000,0.130000,.
missense_variant,ZNF679,MISSENSE,NM_153363.2:p.Glu328Lys/c.982G>A,Gaa/Aaa,MODERATE,,0.102037,0.003,rs10949885,0.03(D),0.987(D),1.13(L),-0.9578(T),,chr7,63726993,63726993,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu328Lys/c.982G>A|411|ZNF679|protein_coding|CODING|NM_153363.2|5|1),"K562:ZNF274,CD4:H4K20me3",,,,0.138,0.1268,0.2346,0.18,0.07,0.23,,,1.000(P),"3.2,3.2(T,T)",0.0000(T),0.042,1.050110,0.81,0.81,0.184000,0.181000,0.163000,0.430000,0.427000,0.000000,6.9761
missense_variant,ZNF736,MISSENSE,NM_001170905.2:p.Ala209Glu/c.626C>A,gCg/gAg,MODERATE,,0.34385,0.3651,rs11976837,0(D),0.902(P),1.76(L),-0.8979(T),,chr7,63808867,63808867,C,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala209Glu/c.626C>A|427|ZNF736|protein_coding|CODING|NM_001170905.2|4|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1779,0.2824,0.2873,0.34,0.48,0.28,,,1.000(P),"5.63,5.63(T,T)",0.0000(T),0.049,1.908165,1.15,1.15,0.305000,0.555000,-0.368000,0.119000,0.003000,0.000000,5.1222
synonymous_variant,ZNF680,SILENT,NM_178558.4:p.Cys523Cys/c.1569T>C,tgT/tgC,LOW,COSM1131541(1),0.682308,0.6379,rs10243954,,,,,,chr7,63981563,63981563,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys523Cys/c.1569T>C|530|ZNF680|protein_coding|CODING|NM_178558.4|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.5818,0.6657,0.5964,0.68,0.83,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ZNF107,SILENT,NM_001282359.1:p.Thr777Thr/c.2331T>C,acT/acC,LOW,COSM3982243(1),0.329273,0.25,rs4718103,,,,,,chr7,64168806,64168806,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr708Thr/c.2124T>C|783|ZNF107|protein_coding|CODING|NM_001013746.2|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr777Thr/c.2331T>C|852|ZNF107|protein_coding|CODING|NM_001282359.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr745Thr/c.2235T>C|820|ZNF107|protein_coding|CODING|NM_001282360.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr708Thr/c.2124T>C|783|ZNF107|protein_coding|CODING|NM_016220.4|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me3",,,,0.5061,0.3876,0.4314,0.36,0.21,0.44,,,,,,,,,,,,,,,,
synonymous_variant,ZNF107,SILENT,NM_001282359.1:p.Glu848Glu/c.2544G>A,gaG/gaA,LOW,,0.811502,0.8075,rs4717205,,,,,,chr7,64169019,64169019,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu779Glu/c.2337G>A|783|ZNF107|protein_coding|CODING|NM_001013746.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu848Glu/c.2544G>A|852|ZNF107|protein_coding|CODING|NM_001282359.1|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu816Glu/c.2448G>A|820|ZNF107|protein_coding|CODING|NM_001282360.1|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu779Glu/c.2337G>A|783|ZNF107|protein_coding|CODING|NM_016220.4|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me3",,,,0.911,0.8818,0.9324,0.89,0.82,0.92,,,,,,,,,,,,,,,,
missense_variant,ZNF138,MISSENSE,NM_001160183.2:p.Phe75Tyr/c.224T>A,tTt/tAt,MODERATE,,0.970647,1,rs4483043,1(T),0.002(B),0(N),-0.9773(T),,chr7,64291333,64291333,T,A,hom,"missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe75Tyr/c.224T>A|126|ZNF138|protein_coding|CODING|NM_001160183.2|4|1),missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe49Tyr/c.146T>A|100|ZNF138|protein_coding|CODING|NM_001271640.1|3|1),intron_variant(MODIFIER|||c.-233-496T>A|172|ZNF138|protein_coding|CODING|NM_001271649.1|1|1),intron_variant(MODIFIER|||c.113-496T>A|287|ZNF138|protein_coding|CODING|NM_001271638.1|3|1),intron_variant(MODIFIER|||c.131-496T>A|293|ZNF138|protein_coding|CODING|NM_006524.3|2|1),intron_variant(MODIFIER|||n.311+15911T>A||ZNF138||CODING|NR_073389.1|2|1),intron_variant(MODIFIER|||c.*24-496T>A|62|ZNF138|protein_coding|CODING|NM_001271637.1|3|1),intron_variant(MODIFIER|||c.209-496T>A|319|ZNF138|protein_coding|CODING|NM_001271639.1|3|1),intron_variant(MODIFIER|||n.494-496T>A||ZNF138||CODING|NR_073391.1|4|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.9969,0.9928,0.996,0.98,0.95,1.00,,,0.017(P),5.36(T),0.0000(T),0.043,-1.905604,0.149,0.149,0.164000,0.166000,0.994000,0.051000,0.051000,0.002000,.
missense_variant,ZNF138,MISSENSE,NM_001271639.1:p.Gly119Glu/c.356G>A,gGa/gAa,MODERATE,COSM3927854(1),0.327077,0.3829,rs10949946,0.18(T),"0.005,0.003,0.005(B,B,B)",0.055(N),-0.9480(T),,chr7,64291976,64291976,G,A,het,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly87Glu/c.260G>A|287|ZNF138|protein_coding|CODING|NM_001271638.1|4|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly119Glu/c.356G>A|319|ZNF138|protein_coding|CODING|NM_001271639.1|4|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly93Glu/c.278G>A|293|ZNF138|protein_coding|CODING|NM_006524.3|3|1),5_prime_UTR_variant(MODIFIER||86|c.-86G>A|172|ZNF138|protein_coding|CODING|NM_001271649.1|2|1),3_prime_UTR_variant(MODIFIER||15968|c.*171G>A|62|ZNF138|protein_coding|CODING|NM_001271637.1|4|1),3_prime_UTR_variant(MODIFIER||112|c.*112G>A|126|ZNF138|protein_coding|CODING|NM_001160183.2|5|1),3_prime_UTR_variant(MODIFIER||112|c.*112G>A|100|ZNF138|protein_coding|CODING|NM_001271640.1|4|1),intron_variant(MODIFIER|||n.311+16554G>A||ZNF138||CODING|NR_073389.1|2|1),non_coding_exon_variant(MODIFIER|||n.641G>A||ZNF138||CODING|NR_073391.1|5|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.3374,0.4308,0.4463,0.36,0.18,0.46,,,1.000(P),"3.58,3.4,3.52,3.5,3.4(T,T,T,T,T)",0.0000(T),0.091,-0.942902,0.85,-1.7,-1.051000,-1.056000,-0.464000,0.001000,0.001000,0.000000,4.9998
missense_variant,ZNF138,MISSENSE,NM_001271639.1:p.Phe124Tyr/c.371T>A,tTt/tAt,MODERATE,,0.980631,1,rs4236203,1(T),"0.0,0.0,0.0(B,B,B)",-0.9(N),-0.9912(T),,chr7,64291991,64291991,T,A,hom,"missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe92Tyr/c.275T>A|287|ZNF138|protein_coding|CODING|NM_001271638.1|4|1),missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe124Tyr/c.371T>A|319|ZNF138|protein_coding|CODING|NM_001271639.1|4|1),missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe98Tyr/c.293T>A|293|ZNF138|protein_coding|CODING|NM_006524.3|3|1),5_prime_UTR_variant(MODIFIER||71|c.-71T>A|172|ZNF138|protein_coding|CODING|NM_001271649.1|2|1),3_prime_UTR_variant(MODIFIER||15983|c.*186T>A|62|ZNF138|protein_coding|CODING|NM_001271637.1|4|1),3_prime_UTR_variant(MODIFIER||127|c.*127T>A|126|ZNF138|protein_coding|CODING|NM_001160183.2|5|1),3_prime_UTR_variant(MODIFIER||127|c.*127T>A|100|ZNF138|protein_coding|CODING|NM_001271640.1|4|1),intron_variant(MODIFIER|||n.311+16569T>A||ZNF138||CODING|NR_073389.1|2|1),non_coding_exon_variant(MODIFIER|||n.656T>A||ZNF138||CODING|NR_073391.1|5|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.998,0.9957,1,0.98,0.94,1.00,,,1.000(P),"3.47,3.41,3.46,3.45,3.41(T,T,T,T,T)",0.0000(T),0.104,-2.282001,0.85,0.85,-1.234000,-1.214000,-0.660000,0.002000,0.002000,0.004000,2.8055
missense_variant,ZNF273,MISSENSE,NM_021148.2:p.Gly454Glu/c.1361G>A,gGa/gAa,MODERATE,COSM3762801(1),0.0497204,0.0962,rs1830080,0.07(T),0.714(P),0.865(L),-0.8981(T),,chr7,64389067,64389067,G,A,het,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly454Glu/c.1361G>A|569|ZNF273|protein_coding|CODING|NM_021148.2|4|1),non_coding_exon_variant(MODIFIER|||n.1526G>A||ZNF273||CODING|NR_003099.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0317,0.0677,0.0457,0.04,0.03,0.04,,,0.000(P),"4.74,4.74(T,T)",0.0004(T),0.05,3.018871,1.16,-0.143,0.205000,0.202000,1.268000,0.758000,0.759000,0.942000,4.2088
missense_variant,ZNF273,MISSENSE,NM_021148.2:p.Glu461Asp/c.1383A>C,gaA/gaC,MODERATE,,0.455871,0.4911,rs2017252,0.14(T),0.327(B),0.38(N),-0.9069(T),,chr7,64389089,64389089,A,C,het,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu461Asp/c.1383A>C|569|ZNF273|protein_coding|CODING|NM_021148.2|4|1),non_coding_exon_variant(MODIFIER|||n.1548A>C||ZNF273||CODING|NR_003099.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5072,0.5101,0.4722,0.45,0.39,0.49,,,1.000(P),"2.31,2.31(T,T)",0.0000(T),0.039,1.964849,1.16,-2.32,0.172000,0.175000,-5.647000,0.567000,0.567000,0.000000,1.9366
stop_gained,ZNF117,NONSENSE,NM_015852.3:p.Arg428*/c.1282C>T,Cga/Tga,HIGH,,0.881789,0.873,rs1404453,0.7(T),,,,,chr7,64438667,64438667,G,A,hom,stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg428*/c.1282C>T|483|ZNF117|protein_coding|CODING|NM_015852.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,HepG2:H3K36me3,CD4:H4K20me3",,,,0.9714,0.9395,0.9652,0.90,0.78,0.96,,,0.000(P),,,.,10.182913,1.1,-2.21,-0.693000,-0.301000,-12.792000,0.003000,0.001000,0.000000,3.1096
missense_variant,ZNF117,MISSENSE,NM_015852.3:p.Lys112Asn/c.336A>C,aaA/aaC,MODERATE,,0.387181,0.4058,rs3807068,0.35(T),0.979(D),1.13(L),-0.9086(T),,chr7,64439613,64439613,T,G,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys112Asn/c.336A>C|483|ZNF117|protein_coding|CODING|NM_015852.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4284,0.2637,0.4016,0.38,0.37,0.38,,,1.000(P),5.17(T),0.0000(T),0.024,0.879357,1.49,-2.31,0.260000,-0.188000,-6.380000,0.003000,0.000000,0.000000,4.72
missense_variant,ZNF117,MISSENSE,NM_015852.3:p.Cys83Tyr/c.248G>A,tGt/tAt,MODERATE,COSM3762803(1),0.387181,0.4058,rs3807069,0.04(D),0.055(B),3.22(M),-1.0264(T),,chr7,64439701,64439701,C,T,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys83Tyr/c.248G>A|483|ZNF117|protein_coding|CODING|NM_015852.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4284,0.2637,0.4016,0.37,0.38,0.37,,,1.000(P),1.31(T),0.0000(T),0.09,1.374106,1.29,0.163,0.305000,-0.224000,1.008000,0.018000,0.000000,0.094000,5.9854
synonymous_variant,ERV3-1,SILENT,NM_001007253.3:p.Val583Val/c.1749C>T,gtC/gtT,LOW,,0.387181,0.4058,rs4718177,,,,,,chr7,64451656,64451656,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val583Val/c.1749C>T|604|ERV3-1|protein_coding|CODING|NM_001007253.3|2|1),upstream_gene_variant(MODIFIER||242||483|ZNF117|protein_coding|CODING|NM_015852.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4284,0.2637,0.4016,0.38,0.39,0.38,,,,,,,,,,,,,,,,
missense_variant,ERV3-1,MISSENSE,NM_001007253.3:p.Asn569Ser/c.1706A>G,aAc/aGc,MODERATE,,0.892772,0.873,rs4717229,0.33(T),0.866(P),0.895(L),-0.9360(T),,chr7,64451699,64451699,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn569Ser/c.1706A>G|604|ERV3-1|protein_coding|CODING|NM_001007253.3|2|1),upstream_gene_variant(MODIFIER||285||483|ZNF117|protein_coding|CODING|NM_015852.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9714,0.9452,0.9652,0.92,0.83,0.96,,,0.994(P),1.54(T),0.0000(T),0.036,1.994820,0.109,0.109,0.155000,0.156000,0.198000,0.401000,0.398000,0.476000,.
missense_variant,ERV3-1,MISSENSE,NM_001007253.3:p.Asn481Ser/c.1442A>G,aAt/aGt,MODERATE,,0.892772,0.873,rs4618579,0.85(T),0.03(B),0.345(N),-0.9577(T),,chr7,64451963,64451963,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn481Ser/c.1442A>G|604|ERV3-1|protein_coding|CODING|NM_001007253.3|2|1),upstream_gene_variant(MODIFIER||549||483|ZNF117|protein_coding|CODING|NM_015852.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9714,0.9452,0.9652,0.92,0.85,0.96,,,1.000(P),2.82(T),0.0000(T),0.006,0.171786,0.109,0.109,0.155000,0.156000,0.198000,0.238000,0.237000,0.359000,.
missense_variant,ERV3-1,MISSENSE,NM_001007253.3:p.Cys192Tyr/c.575G>A,tGt/tAt,MODERATE,,0.471446,0.4673,rs34639489,0.19(T),0.955(D),0(N),-0.9784(T),,chr7,64452830,64452830,C,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys192Tyr/c.575G>A|604|ERV3-1|protein_coding|CODING|NM_001007253.3|2|1),upstream_gene_variant(MODIFIER||1416||483|ZNF117|protein_coding|CODING|NM_015852.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5429,0.6715,0.5606,0.48,0.29,0.57,,,1.000(P),2.21(T),0.0000(T),0.068,1.158791,0.109,0.109,0.184000,0.181000,0.195000,0.325000,0.325000,0.482000,.
missense_variant,ERV3-1,MISSENSE,NM_001007253.3:p.Thr90Ile/c.269C>T,aCc/aTc,MODERATE,,0.892572,0.873,rs6460219,0.45(T),0.001(B),0(N),-1.0443(T),,chr7,64453136,64453136,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr90Ile/c.269C>T|604|ERV3-1|protein_coding|CODING|NM_001007253.3|2|1),upstream_gene_variant(MODIFIER||1722||483|ZNF117|protein_coding|CODING|NM_015852.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9714,0.9452,0.9652,0.91,0.83,0.96,,,0.000(P),2.68(T),0.0000(T),0.028,1.133002,0.109,0.109,0.184000,0.181000,0.230000,0.878000,0.875000,0.936000,.
missense_variant,GUSB,MISSENSE,NM_000181.3:p.Leu649Pro/c.1946T>C,cTg/cCg,MODERATE,,0.580671,0.8323,rs386623211,0.21(T),"0.001,0.0(B,B)",0.415(N),-0.9168(T),,chr7,65425894,65425894,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu503Pro/c.1508T>C|505|GUSB|protein_coding|CODING|NM_001284290.1|10|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu459Pro/c.1376T>C|461|GUSB|protein_coding|CODING|NM_001293104.1|11|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu430Pro/c.1289T>C|432|GUSB|protein_coding|CODING|NM_001293105.1|10|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu649Pro/c.1946T>C|651|GUSB|protein_coding|CODING|NM_000181.3|12|1),downstream_gene_variant(MODIFIER||1344||177|VKORC1L1|protein_coding|CODING|NM_001284342.1||1),downstream_gene_variant(MODIFIER||1344||176|VKORC1L1|protein_coding|CODING|NM_173517.4||1),non_coding_exon_variant(MODIFIER|||n.1992T>C||GUSB||CODING|NR_120531.1|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000078327.1,,0.6697,0.562,0.5636,0.49,0.37,0.55,,0.900468(N),1.000(P),"-3.72,-3.6,-3.51(D,D,D)",0.0000(T),0.081,-1.783147,5.6,-0.0658,-0.766000,-0.151000,-0.047000,0.015000,0.024000,0.001000,9.8841
synonymous_variant,KCTD7,SILENT,NM_153033.4:p.Thr89Thr/c.267G>A,acG/acA,LOW,,0.0782748,0.1101,rs3764904,,,,,,chr7,66098384,66098384,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr89Thr/c.267G>A|288|KCTD7|protein_coding|CODING|NM_001167961.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr89Thr/c.267G>A|289|KCTD7|protein_coding|CODING|NM_153033.4|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117376.2|RCV000126502.1,,0.0951,0.0965,0.1133,0.08,0.03,0.11,,,,,,,,,,,,,,,,
synonymous_variant,AUTS2,SILENT,NM_015570.3:p.Tyr971Tyr/c.2913C>T,taC/taT,LOW,,0.00499201,0,rs113194983,,,,,,chr7,70255115,70255115,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr947Tyr/c.2841C>T|1235|AUTS2|protein_coding|CODING|NM_001127231.2|18|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr971Tyr/c.2913C>T|1259|AUTS2|protein_coding|CODING|NM_015570.3|19|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0029,0.0179,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,WBSCR17,SILENT,NM_022479.2:p.Ala32Ala/c.96G>A,gcG/gcA,LOW,,0.0599042,0.1002,rs61741535,,,,,,chr7,70597884,70597884,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala32Ala/c.96G>A|598|WBSCR17|protein_coding|CODING|NM_022479.2|1|1),"H1ESC:H3K9ac,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.0706,0.0548,0.0646,0.06,0.03,0.07,,,,,,,,,,,,,,,,
missense_variant,TYW1B,MISSENSE,NM_001145440.2:p.Met511Thr/c.1532T>C,aTg/aCg,MODERATE,COSN168101,0.515575,0.5595,rs28535321,,,,,,chr7,72093957,72093957,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met511Thr/c.1532T>C|668|TYW1B|protein_coding|CODING|NM_001145440.2|13|1),HepG2:H3K36me3,,,,0.3681,0.4481,0.329,,,,,,,,,,,,,,,,,,,
stop_lost,TYW1B,MISSENSE,NM_001145440.2:p.Ter373Trpext*?/c.1118A>G,tAg/tGg,HIGH,COSN168103,0.386781,0.5565,rs3015858,,,,,,chr7,72193864,72193864,T,C,het,stop_lost(HIGH|MISSENSE|tAg/tGg|p.Ter373Trpext*?/c.1118A>G|668|TYW1B|protein_coding|CODING|NM_001145440.2|10|1),"GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.317,0.3573,0.2346,0.29,0.43,0.23,,,,,,,,,,,,,,,,
missense_variant,TYW1B,MISSENSE,NM_001145440.2:p.Arg372Trp/c.1114C>T,Cgg/Tgg,MODERATE,COSN168104,0.386781,0.5565,rs2960999,,,,,,chr7,72193868,72193868,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg372Trp/c.1114C>T|668|TYW1B|protein_coding|CODING|NM_001145440.2|10|1),"GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.317,0.3573,0.2346,0.28,0.42,0.21,,,,,,,,,,,,,,,,
missense_variant,TYW1B,MISSENSE,NM_001145440.2:p.Trp104Cys/c.312G>T,tgG/tgT,MODERATE,,,,,,,,,,chr7,72281177,72281177,C,A,het,missense_variant(MODERATE|MISSENSE|tgG/tgT|p.Trp104Cys/c.312G>T|668|TYW1B|protein_coding|CODING|NM_001145440.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,POM121,MISSENSE,NM_001257190.2:p.Pro699Leu/c.2096C>T,cCg/cTg,MODERATE,COSM289235(6),,,rs71554686,0.3(T),"0.999,0.287(D,B)",1.735(L),-1.0391(T),,chr7,72413423,72413423,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro699Leu/c.2096C>T|999|POM121|protein_coding|CODING|NM_001257190.2|14|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro699Leu/c.2096C>T|984|POM121|protein_coding|CODING|NM_172020.4|12|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.334357(N),0.184(P),"3.31,3.34,3.31,3.34,3.52(T,T,T,T,T)",0.0407(T),0.283,1.528404,2.33,2.33,0.173000,1.309000,2.433000,0.077000,0.365000,0.041000,10.1668
missense_variant,POM121,MISSENSE,NM_001257190.2:p.Ala706Thr/c.2116G>A,Gca/Aca,MODERATE,COSM1568889(4),,,rs62463429,0.35(T),"0.016,0.004(B,B)",0.53(N),-0.9264(T),,chr7,72413443,72413443,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala706Thr/c.2116G>A|999|POM121|protein_coding|CODING|NM_001257190.2|14|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala706Thr/c.2116G>A|984|POM121|protein_coding|CODING|NM_172020.4|12|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.941009(N),1.000(P),"3.25,3.27,3.25,3.27,3.54(T,T,T,T,T)",0.0000(T),0.071,-1.453214,2.33,-4.66,-1.195000,-1.455000,-1.922000,0.038000,0.055000,0.000000,10.3771
synonymous_variant,POM121,SILENT,NM_001257190.2:p.Asn849Asn/c.2547T>C,aaT/aaC,LOW,COSM3833140(5),,,rs199633193,,,,,,chr7,72413874,72413874,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn849Asn/c.2547T>C|999|POM121|protein_coding|CODING|NM_001257190.2|14|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn849Asn/c.2547T>C|984|POM121|protein_coding|CODING|NM_172020.4|12|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,POM121,MISSENSE,NM_001257190.2:p.Leu985Pro/c.2954T>C,cTt/cCt,MODERATE,COSM3982257(2),0.573083,0.4663,rs7056,0.03(D),0.0(B),,-0.9741(T),,chr7,72418963,72418963,T,C,het,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu985Pro/c.2954T>C|999|POM121|protein_coding|CODING|NM_001257190.2|16|1),downstream_gene_variant(MODIFIER||120||984|POM121|protein_coding|CODING|NM_172020.4||1),non_coding_exon_variant(MODIFIER|||n.1636A>G||NSUN5P2||NON_CODING|NR_033323.3|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.592,0.5403,0.5408,0.52,0.60,0.47,,,1.000(P),"3.17,3.17(T,T)",0.0000(T),0.072,0.146766,0.792,-0.506,-1.687000,-1.656000,-1.592000,0.111000,0.007000,0.000000,4.7736
synonymous_variant,NSUN5,SILENT,NM_001168347.2:p.Ala345Ala/c.1035G>A,gcG/gcA,LOW,COSM453331(1),0.2502,0.2381,rs11544043,,,,,,chr7,72717933,72717933,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala345Ala/c.1035G>A|470|NSUN5|protein_coding|CODING|NM_001168347.2|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala307Ala/c.921G>A|391|NSUN5|protein_coding|CODING|NM_001168348.2|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala345Ala/c.1035G>A|429|NSUN5|protein_coding|CODING|NM_018044.4|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala345Ala/c.1035G>A|466|NSUN5|protein_coding|CODING|NM_148956.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2301,0.3228,0.2197,0.25,0.25,0.24,,,,,,,,,,,,,,,,
missense_variant,TRIM50,MISSENSE,NM_001281451.1:p.Trp13Arg/c.37T>C,Tgg/Cgg,MODERATE,COSM4162401(1),0.999601,1,rs28626137,0.07(T),"0.0,0.0(B,B)",-1.385(N),-0.9544(T),,chr7,72738749,72738749,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp13Arg/c.37T>C|486|TRIM50|protein_coding|CODING|NM_001281450.1|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp13Arg/c.37T>C|487|TRIM50|protein_coding|CODING|NM_001281451.1|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp13Arg/c.37T>C|487|TRIM50|protein_coding|CODING|NM_178125.3|2|1)","CD4:H2AZ,HepG2:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me1,HepG2:H3K4me3,HepG2:DNase1",,,,1,1,0.999,,,,,0.507920(N),1.000(P),"-1.73,-1.73(D,D)",0.0000(T),0.059,-1.379181,3.94,1.87,-0.330000,0.432000,1.312000,0.816000,0.532000,0.977000,8.5337
synonymous_variant,TRIM50,SILENT,NM_001281451.1:p.Leu8Leu/c.24G>A,ctG/ctA,LOW,COSM4162402(1),0.999601,1,rs6980258,,,,,,chr7,72738762,72738762,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu8Leu/c.24G>A|486|TRIM50|protein_coding|CODING|NM_001281450.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu8Leu/c.24G>A|487|TRIM50|protein_coding|CODING|NM_001281451.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu8Leu/c.24G>A|487|TRIM50|protein_coding|CODING|NM_178125.3|2|1)","CD4:H2AZ,HepG2:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me1,HepG2:H3K4me3,HepG2:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,TRIM50,MISSENSE,NM_001281451.1:p.Leu8Pro/c.23T>C,cTg/cCg,MODERATE,COSM4162404(1),0.999601,1,rs6980124,0.29(T),"0.0,0.0(B,B)",0.245(N),-1.0136(T),,chr7,72738763,72738763,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu8Pro/c.23T>C|486|TRIM50|protein_coding|CODING|NM_001281450.1|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu8Pro/c.23T>C|487|TRIM50|protein_coding|CODING|NM_001281451.1|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu8Pro/c.23T>C|487|TRIM50|protein_coding|CODING|NM_178125.3|2|1)","CD4:H2AZ,HepG2:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me1,HepG2:H3K4me3,HepG2:DNase1",,,,1,1,1,,,,,0.411154(N),1.000(P),"-1.84,-1.84(D,D)",0.0000(T),0.148,-3.198962,3.94,0.0793,-2.494000,-0.349000,0.049000,0.051000,0.000000,0.000000,1.9053
synonymous_variant,BAZ1B,SILENT,NM_032408.3:p.Ser679Ser/c.2037G>A,tcG/tcA,LOW,,0.347644,0.4395,rs2074754,,,,,,chr7,72891754,72891754,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser679Ser/c.2037G>A|1483|BAZ1B|protein_coding|CODING|NM_032408.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.4479,0.4784,0.4682,0.35,0.12,0.47,,,,,,,,,,,,,,,,
synonymous_variant,MLXIPL,SILENT,NM_032951.2:p.Ser253Ser/c.759A>G,tcA/tcG,LOW,,0.971645,1,rs799157,,,,,,chr7,73020301,73020301,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser253Ser/c.759A>G|852|MLXIPL|protein_coding|CODING|NM_032951.2|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser253Ser/c.759A>G|833|MLXIPL|protein_coding|CODING|NM_032952.2|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser253Ser/c.759A>G|850|MLXIPL|protein_coding|CODING|NM_032953.2|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser253Ser/c.759A>G|831|MLXIPL|protein_coding|CODING|NM_032954.2|6|1)","H1ESC:H3K27me3,HepG2:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9734,0.9481,0.9493,0.96,0.97,0.96,,,,,,,,,,,,,,,,
synonymous_variant,DNAJC30,SILENT,NM_032317.2:p.Tyr172Tyr/c.516C>T,taC/taT,LOW,,0.232228,0.1746,rs1569062,,,,,,chr7,73097238,73097238,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr172Tyr/c.516C>T|226|DNAJC30|protein_coding|CODING|NM_032317.2|1|1),upstream_gene_variant(MODIFIER||660||298|WBSCR22|protein_coding|CODING|NM_001202560.2||1),upstream_gene_variant(MODIFIER||660||281|WBSCR22|protein_coding|CODING|NM_017528.4||1),upstream_gene_variant(MODIFIER||660|||WBSCR22||CODING|NR_037776.2||1),upstream_gene_variant(MODIFIER||660|||WBSCR22||CODING|NR_045512.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.3722,0.3473,0.337,0.25,0.08,0.34,,,,,,,,,,,,,,,,
missense_variant,WBSCR27,MISSENSE,NM_152559.2:p.Arg216Trp/c.646A>T,Agg/Tgg,MODERATE,COSM3774297(1),0.58107,0.5813,rs13246460,0.19(T),0.43(B),0.69(N),-0.9636(T),,chr7,73249165,73249165,T,A,hom,missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg216Trp/c.646A>T|245|WBSCR27|protein_coding|CODING|NM_152559.2|6|1),"H1ESC:H3K36me3,K562:DNase1",,,,0.5695,0.6124,0.7256,0.67,0.52,0.74,,0.372109(N),0.999(P),-0.42(T),0.0000(T),0.162,4.463481,5.25,5.25,0.449000,2.013000,5.701000,0.330000,0.106000,0.999000,11.6685
missense_variant,WBSCR27,MISSENSE,NM_152559.2:p.Ser171Trp/c.512C>G,tCg/tGg,MODERATE,,0.58107,0.5813,rs13232463,0.18(T),0.804(P),1.04(L),-1.0410(T),,chr7,73249299,73249299,G,C,hom,missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser171Trp/c.512C>G|245|WBSCR27|protein_coding|CODING|NM_152559.2|6|1),"H1ESC:H3K36me3,HUVEC:DNase1,K562:DNase1",,,,0.5695,0.6124,0.7256,0.67,0.52,0.74,,0.709478(N),0.008(P),1.36(T),0.0000(T),0.138,2.604998,5.09,5.09,0.549000,2.413000,1.649000,0.277000,0.950000,0.966000,14.1593
missense_variant,WBSCR27,MISSENSE,NM_152559.2:p.Gln107Arg/c.320A>G,cAg/cGg,MODERATE,COSM453359(2),0.58127,0.5813,rs13241921,1(T),0.0(B),-0.775(N),-0.9702(T),,chr7,73254812,73254812,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln107Arg/c.320A>G|245|WBSCR27|protein_coding|CODING|NM_152559.2|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5695,0.6124,0.7256,0.66,0.52,0.73,,0.079474(N),1.000(P),-0.03(T),0.0000(T),0.015,-2.292375,4.69,-3.02,-0.355000,-1.055000,-1.422000,0.005000,0.001000,0.000000,12.2327
missense_variant,WBSCR28,MISSENSE,NM_182504.3:p.Ile14Asn/c.41T>A,aTc/aAc,MODERATE,,0.544728,0.63,rs11770052,0.06(T),0.576(P),0.805(L),-1.0973(T),,chr7,73275565,73275565,T,A,hom,missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile14Asn/c.41T>A|265|WBSCR28|protein_coding|CODING|NM_182504.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5798,0.6037,0.7256,0.63,0.39,0.75,,0.219284(N),1.000(P),1.97(T),0.0000(T),0.256,-0.778461,4.21,3.07,0.529000,0.805000,2.013000,0.019000,0.002000,0.030000,5.6334
synonymous_variant,WBSCR28,SILENT,NM_182504.3:p.Leu37Leu/c.111C>T,ctC/ctT,LOW,COSM3762821(2),0.209465,0.0784,rs61742124,,,,,,chr7,73279361,73279361,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu37Leu/c.111C>T|265|WBSCR28|protein_coding|CODING|NM_182504.3|2|1),,,,,0.1861,0.219,0.2028,0.22,0.26,0.20,,,,,,,,,,,,,,,,
missense_variant,WBSCR28,MISSENSE,NM_182504.3:p.Trp78Arg/c.232T>C,Tgg/Cgg,MODERATE,,0.561701,0.6498,rs13227841,1(T),0.0(B),-0.625(N),-0.9764(T),,chr7,73279482,73279482,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp78Arg/c.232T>C|265|WBSCR28|protein_coding|CODING|NM_182504.3|2|1),,,,,0.6411,0.5893,0.6769,0.61,0.43,0.69,,0.186572(N),1.000(P),2.64(T),0.0000(T),0.029,-1.639947,4.51,-3.02,-2.015000,-0.665000,0.305000,0.000000,0.000000,0.000000,0.1465
missense_variant,ELN,MISSENSE,NM_001278939.1:p.Gly422Ser/c.1264G>A,Ggt/Agt,MODERATE,COSM150313(1),0.220447,0.1081,rs2071307,0.09(T),"0.002,0.002,0.002,0.002,0.002,0.002,0.002,0.002,0.002,0.002,0.002,0.002(B,B,B,B,B,B,B,B,B,B,B,B)",,-0.9756(T),,chr7,73470714,73470714,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly422Ser/c.1264G>A|724|ELN|protein_coding|CODING|NM_000501.3|20|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly412Ser/c.1234G>A|677|ELN|protein_coding|CODING|NM_001081752.2|19|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly427Ser/c.1279G>A|692|ELN|protein_coding|CODING|NM_001081753.2|20|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly427Ser/c.1279G>A|711|ELN|protein_coding|CODING|NM_001081754.2|20|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly422Ser/c.1264G>A|705|ELN|protein_coding|CODING|NM_001081755.2|20|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly422Ser/c.1264G>A|706|ELN|protein_coding|CODING|NM_001278912.1|20|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly417Ser/c.1249G>A|700|ELN|protein_coding|CODING|NM_001278914.1|19|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly422Ser/c.1264G>A|730|ELN|protein_coding|CODING|NM_001278915.1|20|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly408Ser/c.1222G>A|658|ELN|protein_coding|CODING|NM_001278916.1|19|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly412Ser/c.1234G>A|714|ELN|protein_coding|CODING|NM_001278917.1|19|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly422Ser/c.1264G>A|786|ELN|protein_coding|CODING|NM_001278939.1|20|1),intron_variant(MODIFIER|||c.1129+27G>A|643|ELN|protein_coding|CODING|NM_001278913.1|17|1),intron_variant(MODIFIER|||c.1105+27G>A|617|ELN|protein_coding|CODING|NM_001278918.1|17|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000036524.1,,0.229,0.2464,0.4205,0.33,0.18,0.41,,,1.000(P),"1.13,1.16,0.32,1.18,1.14,1.25,1.38,1.14,1.11,1.27,1.31,1.28,1.16(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.064,1.343509,2.18,1.2,-1.446000,-0.267000,0.532000,0.002000,0.002000,0.111000,7.3905
missense_variant,ELN,MISSENSE,NM_001278939.1:p.Gly610Arg/c.1828G>C,Ggg/Cgg,MODERATE,COSM3762823(1),0.0401358,0,rs17855988,0.5(T),"1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0(D,D,D,D,D,D,D,D,D,D,D,D,D)",,-1.0280(T),,chr7,73474825,73474825,G,C,het,"missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly581Arg/c.1741G>C|724|ELN|protein_coding|CODING|NM_000501.3|25|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly552Arg/c.1654G>C|677|ELN|protein_coding|CODING|NM_001081752.2|23|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly567Arg/c.1699G>C|692|ELN|protein_coding|CODING|NM_001081753.2|24|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly586Arg/c.1756G>C|711|ELN|protein_coding|CODING|NM_001081754.2|25|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly562Arg/c.1684G>C|705|ELN|protein_coding|CODING|NM_001081755.2|24|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly581Arg/c.1741G>C|706|ELN|protein_coding|CODING|NM_001278912.1|25|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly500Arg/c.1498G>C|643|ELN|protein_coding|CODING|NM_001278913.1|21|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly557Arg/c.1669G>C|700|ELN|protein_coding|CODING|NM_001278914.1|23|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly587Arg/c.1759G>C|730|ELN|protein_coding|CODING|NM_001278915.1|25|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly533Arg/c.1597G>C|658|ELN|protein_coding|CODING|NM_001278916.1|22|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly571Arg/c.1711G>C|714|ELN|protein_coding|CODING|NM_001278917.1|24|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly492Arg/c.1474G>C|617|ELN|protein_coding|CODING|NM_001278918.1|21|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly610Arg/c.1828G>C|786|ELN|protein_coding|CODING|NM_001278939.1|26|1)","NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,GM12878:H3K27me3,CD4:H2BK20ac,GM12878:H3K36me3,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,K562:H3K27me3,HepG2:CTCF,HepG2:H3K27me3,H1ESC:CTCF",,,,0.0532,0.0778,0.0915,0.07,0.02,0.10,,,0.001(P),"1.2,1.25,0.97,1.3,1.15,1.24,1.22,1.15,1.22,1.18,1.18,1.2,1.16,0.87(T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0071(T),0.487,2.516071,3.46,3.46,0.555000,1.953000,4.713000,0.761000,0.725000,0.999000,10.6615
synonymous_variant,CLIP2,SILENT,NM_003388.4:p.Thr198Thr/c.594T>C,acT/acC,LOW,COSM4162422(1),0.541534,0.494,rs539518,,,,,,chr7,73753250,73753250,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr198Thr/c.594T>C|1046|CLIP2|protein_coding|CODING|NM_003388.4|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr198Thr/c.594T>C|1011|CLIP2|protein_coding|CODING|NM_032421.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.5778,0.7584,0.63,0.40,0.74,,,,,,,,,,,,,,,,
missense_variant,CLIP2,MISSENSE,NM_003388.4:p.Arg977Pro/c.2930G>C,cGg/cCg,MODERATE,,0.988818,1,rs2522943,0.45(T),"0.0,0.0(B,B)",-0.975(N),-0.9636(T),,chr7,73814749,73814749,G,C,hom,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg977Pro/c.2930G>C|1046|CLIP2|protein_coding|CODING|NM_003388.4|15|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg942Pro/c.2825G>C|1011|CLIP2|protein_coding|CODING|NM_032421.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9765,0.9827,0.9811,0.98,1.00,0.98,,0.000000(N),0.999(P),"0.39,0.42,0.39(T,T,T)",0.0000(T),0.383,0.134417,4.72,4.72,-0.368000,1.012000,5.445000,0.802000,0.791000,1.000000,13.8137
synonymous_variant,GTF2IRD1,SILENT,NM_001199207.1:p.Val181Val/c.543G>T,gtG/gtT,LOW,,0.00379393,0,rs145535993,,,,,,chr7,73932494,73932494,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val181Val/c.543G>T|976|GTF2IRD1|protein_coding|CODING|NM_001199207.1|5|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val149Val/c.447G>T|944|GTF2IRD1|protein_coding|CODING|NM_005685.3|5|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val149Val/c.447G>T|959|GTF2IRD1|protein_coding|CODING|NM_016328.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.001,0.0072,0.007,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,GTF2IRD1,SILENT,NM_001199207.1:p.Glu203Glu/c.609A>G,gaA/gaG,LOW,COSM3762826(1),0.236821,0.0952,rs17851629,,,,,,chr7,73932560,73932560,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu203Glu/c.609A>G|976|GTF2IRD1|protein_coding|CODING|NM_001199207.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu171Glu/c.513A>G|944|GTF2IRD1|protein_coding|CODING|NM_005685.3|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu171Glu/c.513A>G|959|GTF2IRD1|protein_coding|CODING|NM_016328.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1779,0.196,0.16,0.27,0.41,0.20,,,,,,,,,,,,,,,,
missense_variant,NCF1,MISSENSE,NM_000265.5:p.Gly99Ser/c.295G>A,Ggc/Agc,MODERATE,COSM4162428(1),0.63119,0.5873,rs17295741,0.33(T),"0.003,0.003(B,B)",-0.805(N),-1.0545(T),,chr7,74193668,74193668,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly99Ser/c.295G>A|390|NCF1|protein_coding|CODING|NM_000265.5|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7474,0.6455,0.7137,,,,,0.203252(N),1.000(P),"1.16,1.16,1.16(T,T,T)",0.0313(T),0.562,-0.938479,3.38,-3.27,-1.491000,-0.819000,0.518000,0.104000,0.001000,0.025000,5.0724
missense_variant,WBSCR16,MISSENSE,NM_030798.4:p.Arg30Gly/c.88A>G,Agg/Ggg,MODERATE,COSM4162436(1),0.467652,0.1478,rs6955671,0.4(T),"0.0,0.0(B,B)",-0.345(N),-0.9910(T),,chr7,74489486,74489486,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg30Gly/c.88A>G|358|WBSCR16|protein_coding|CODING|NM_001281441.1|1|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg30Gly/c.88A>G|464|WBSCR16|protein_coding|CODING|NM_030798.4|1|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg30Gly/c.88A>G|454|WBSCR16|protein_coding|CODING|NM_148842.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,GM12878:SIX5,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:THAP1,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.4274,0.2997,0.4592,,,,,0.954456(N),1.000(P),"1.26,0.94,0.93(T,T,T)",0.0000(T),0.103,0.079889,4.54,-2.1,-4.177000,-0.693000,-0.595000,0.013000,0.439000,0.001000,0.1908
synonymous_variant,POM121C,SILENT,NM_001099415.2:p.Pro720Pro/c.2160A>G,ccA/ccG,LOW,COSM453389(3),0.289137,0.2589,rs398016,,,,,,chr7,75051375,75051375,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro720Pro/c.2160A>G|987|POM121C|protein_coding|CODING|NM_001099415.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3067,0.3069,0.4702,0.34,0.16,0.43,,,,,,,,,,,,,,,,
missense_variant,CCL24,MISSENSE,NM_002991.2:p.Ser31Phe/c.92C>T,tCt/tTt,MODERATE,,0.0423323,0.0556,rs11465293,0.05(D),0.025(B),2.4(M),-1.0213(T),,chr7,75442723,75442723,G,A,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser31Phe/c.92C>T|119|CCL24|protein_coding|CODING|NM_002991.2|2|1),"IMR90:DNase1,HSMM:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0419,0.0202,0.0497,0.04,0.04,0.04,,0.577768(N),1.000(N),"3.46,3.46(T,T)",0.0044(T),0.092,0.698195,3.61,1.8,-0.150000,0.513000,0.940000,0.004000,0.003000,0.236000,5.9726
missense_variant,CCL24,MISSENSE,NM_002991.2:p.Ile29Leu/c.85A>C,Atc/Ctc,MODERATE,COSM4162444(1),0.346046,0.5595,rs2302006,0.52(T),0.01(B),1.135(L),-0.9770(T),,chr7,75442730,75442730,T,G,het,missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile29Leu/c.85A>C|119|CCL24|protein_coding|CODING|NM_002991.2|2|1),"IMR90:DNase1,HSMM:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3548,0.4063,0.1839,0.23,0.28,0.20,,0.495911(N),1.000(P),"3.84,3.84(T,T)",0.0000(T),0.054,0.424243,3.61,-0.408,-0.291000,-0.058000,0.260000,0.004000,0.004000,0.696000,9.5265
synonymous_variant,RHBDD2,SILENT,NM_001040456.1:p.Ala211Ala/c.633A>G,gcA/gcG,LOW,,0.986621,1,rs42183,,,,-1.0617(T),,chr7,75513062,75513062,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala211Ala/c.633A>G|364|RHBDD2|protein_coding|CODING|NM_001040456.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala70Ala/c.210A>G|223|RHBDD2|protein_coding|CODING|NM_001040457.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:EBF,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9928,0.9726,0.9592,0.97,0.99,0.96,,,1.000(P),,0.0000(T),.,-0.717836,5.57,-9.73,-1.095000,-2.023000,-2.514000,0.013000,0.000000,0.000000,9.3973
synonymous_variant,POR,SILENT,NM_000941.2:p.Ala485Ala/c.1455T>C,gcT/gcC,LOW,COSM4162446(1),0.835264,0.8472,rs2228104,,,,-1.0337(T),,chr7,75614953,75614953,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala485Ala/c.1455T>C|680|POR|protein_coding|CODING|NM_000941.2|13|1),downstream_gene_variant(MODIFIER||1202||343|TMEM120A|protein_coding|CODING|NM_031925.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.9438,0.9135,0.9612,0.87,0.68,0.97,,,0.000(P),,0.0000(T),.,-0.076997,3.94,-7.1,-1.163000,-1.903000,-6.584000,0.368000,0.136000,0.000000,0.6817
missense_variant,POR,MISSENSE,NM_000941.2:p.Ala503Val/c.1508C>T,gCc/gTc,MODERATE,COSM3762833(1),0.286142,0.374,rs1057868,0.29(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0.315(N),-1.0378(T),,chr7,75615006,75615006,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala503Val/c.1508C>T|680|POR|protein_coding|CODING|NM_000941.2|13|1),downstream_gene_variant(MODIFIER||1149||343|TMEM120A|protein_coding|CODING|NM_031925.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.3476,0.2795,0.2952,0.24,0.17,0.27,,0.002907(N),1.000(P),"-1.64,-1.64,-1.64,-1.64,-1.64,-1.64(D,D,D,D,D,D)",0.0000(T),0.193,0.700936,4.4,3.51,0.561000,1.188000,0.907000,0.158000,0.003000,0.033000,8.3965
synonymous_variant,POR,SILENT,NM_000941.2:p.Ser572Ser/c.1716G>A,tcG/tcA,LOW,COSM3762835(2),0.195288,0.0377,rs1057870,,,,-1.0426(T),,chr7,75615287,75615287,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser572Ser/c.1716G>A|680|POR|protein_coding|CODING|NM_000941.2|14|1),downstream_gene_variant(MODIFIER||868||343|TMEM120A|protein_coding|CODING|NM_031925.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2894,0.2133,0.341,0.29,0.15,0.35,,,1.000(P),,0.0000(T),.,0.010290,3.59,-7.18,-2.868000,-3.492000,-2.390000,0.705000,0.020000,0.000000,3.4043
stop_lost,TMEM120A,MISSENSE,NM_031925.2:p.Ter44Glnext*?/c.130T>C,Tag/Cag,HIGH,,1,1,rs4732519,,,,,,chr7,75621827,75621827,A,G,hom,stop_lost(HIGH|MISSENSE|Tag/Cag|p.Ter44Glnext*?/c.130T>C|343|TMEM120A|protein_coding|CODING|NM_031925.2|2|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,STYXL1,SILENT,NM_016086.2:p.Gln248Gln/c.744A>G,caA/caG,LOW,,0.623802,0.5585,rs8565,,,,,,chr7,75630274,75630274,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln248Gln/c.744A>G|313|STYXL1|protein_coding|CODING|NM_016086.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6074,0.6671,0.7127,0.69,0.63,0.73,,,,,,,,,,,,,,,,
synonymous_variant,STYXL1,SILENT,NM_016086.2:p.Pro9Pro/c.27A>G,ccA/ccG,LOW,,0.465056,0.3929,rs1044483,,,,,,chr7,75659815,75659815,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro9Pro/c.27A>G|313|STYXL1|protein_coding|CODING|NM_016086.2|2|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5542,0.5836,0.673,0.57,0.32,0.70,,,,,,,,,,,,,,,,
missense_variant,MDH2,MISSENSE,NM_005918.3:p.Ala9Val/c.26C>T,gCc/gTc,MODERATE,COSM453397(9),0.522165,0.6071,rs6720,0.34(T),"0.0,0.0(B,B)",1.015(L),-0.9844(T),,chr7,75677504,75677504,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala9Val/c.26C>T|296|MDH2|protein_coding|CODING|NM_001282403.1|1|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala9Val/c.26C>T|338|MDH2|protein_coding|CODING|NM_005918.3|1|1),5_prime_UTR_variant(MODIFIER||9785|c.-127C>T|231|MDH2|protein_coding|CODING|NM_001282404.1|1|1),upstream_gene_variant(MODIFIER||183||313|STYXL1|protein_coding|CODING|NM_016086.2||1),non_coding_exon_variant(MODIFIER|||n.168C>T||MDH2||CODING|NR_104165.1|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,GM12878:ZBTB33,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HepG2:ZBTB33,K562:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,K562:GTF2B,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,GM12878:EBF,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Nrsf,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.4601,0.4164,0.327,0.39,0.59,0.29,,0.003322(N),0.999(P),"0.99,0.99(T,T)",0.0000(T),0.147,2.903178,5.57,0.558,0.650000,0.047000,0.356000,0.754000,0.004000,0.001000,9.0275
missense_variant,DTX2,MISSENSE,NM_001102594.1:p.Thr421Ala/c.1261A>G,Aca/Gca,MODERATE,COSM4162457(2),0.816094,0.9454,rs6979487,1(T),"0.001,0.002,0.001,0.002(B,B,B,B)",0.255(N),-0.9242(T),,chr7,76131645,76131645,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr421Ala/c.1261A>G|622|DTX2|protein_coding|CODING|NM_001102594.1|8|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr421Ala/c.1261A>G|622|DTX2|protein_coding|CODING|NM_001102595.1|7|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr374Ala/c.1120A>G|575|DTX2|protein_coding|CODING|NM_001102596.1|5|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr421Ala/c.1261A>G|622|DTX2|protein_coding|CODING|NM_020892.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7802,0.8357,0.6938,,,,,0.369199(N),1.000(P),"-2.09,-2.09,-2.09,-2.09,-2.09,-2.09(D,D,D,D,D,D)",0.0000(T),0.18,-1.469051,5.66,-2.89,-0.140000,-0.454000,0.127000,0.004000,0.000000,0.000000,1.6228
synonymous_variant,DTX2,SILENT,NM_001102594.1:p.Ala422Ala/c.1266G>A,gcG/gcA,LOW,COSM3721587(1),,,rs6958774,,,,,,chr7,76131650,76131650,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala422Ala/c.1266G>A|622|DTX2|protein_coding|CODING|NM_001102594.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala422Ala/c.1266G>A|622|DTX2|protein_coding|CODING|NM_001102595.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala375Ala/c.1125G>A|575|DTX2|protein_coding|CODING|NM_001102596.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala422Ala/c.1266G>A|622|DTX2|protein_coding|CODING|NM_020892.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,DTX2,SILENT,NM_001102594.1:p.Leu437Leu/c.1311A>G,ctA/ctG,LOW,COSM4162458(1),0.686102,0.8095,rs4728775,,,,,,chr7,76131695,76131695,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu437Leu/c.1311A>G|622|DTX2|protein_coding|CODING|NM_001102594.1|8|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu437Leu/c.1311A>G|622|DTX2|protein_coding|CODING|NM_001102595.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu390Leu/c.1170A>G|575|DTX2|protein_coding|CODING|NM_001102596.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu437Leu/c.1311A>G|622|DTX2|protein_coding|CODING|NM_020892.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.7219,0.6581,0.61,0.57,0.63,,,,,,,,,,,,,,,,
synonymous_variant,DTX2,SILENT,NM_001102594.1:p.Gly515Gly/c.1545T>C,ggT/ggC,LOW,COSM4162459(2),0.356829,0.4425,rs17855260,,,,,,chr7,76132898,76132898,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly515Gly/c.1545T>C|622|DTX2|protein_coding|CODING|NM_001102594.1|9|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly515Gly/c.1545T>C|622|DTX2|protein_coding|CODING|NM_001102595.1|8|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly468Gly/c.1404T>C|575|DTX2|protein_coding|CODING|NM_001102596.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly515Gly/c.1545T>C|622|DTX2|protein_coding|CODING|NM_020892.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3129,0.3804,0.4056,0.35,0.27,0.39,,,,,,,,,,,,,,,,
missense_variant,UPK3B,MISSENSE,NM_030570.3:p.Ser73Pro/c.217T>C,Tcc/Ccc,MODERATE,,0.209265,0.4256,rs12666503,0.14(T),0.005(B),0(N),-0.9961(T),,chr7,76140186,76140186,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser73Pro/c.217T>C|320|UPK3B|protein_coding|CODING|NM_030570.3|1|1),intron_variant(MODIFIER|||c.86-34T>C|265|UPK3B|protein_coding|CODING|NM_182683.2|1|1),intron_variant(MODIFIER|||c.86-34T>C|276|UPK3B|protein_coding|CODING|NM_182684.2|1|1)","H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.1626,0.2219,0.1839,0.14,0.08,0.17,,0.235587(N),1.000(P),"1.33,1.33,1.33(T,T,T)",0.0000(T),0.247,1.561517,3.45,-6.89,0.334000,-1.779000,0.324000,0.128000,0.000000,0.006000,0.804
missense_variant,UPK3B,MISSENSE,NM_182684.2:p.Arg255Ser/c.765A>C,agA/agC,MODERATE,,0.989617,1,rs1799125,1(T),0.0(B),,-0.9586(T),,chr7,76144455,76144455,A,C,hom,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg255Ser/c.765A>C|276|UPK3B|protein_coding|CODING|NM_182684.2|6|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg284Arg/c.850A>C|320|UPK3B|protein_coding|CODING|NM_030570.3|4|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg229Arg/c.685A>C|265|UPK3B|protein_coding|CODING|NM_182683.2|5|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,1,0.99,0.96,1.00,,0.020283(N),0.994(P),"0.69,0.69(T,T)",0.0000(T),.,-2.288186,4.08,-6.95,-2.034000,-2.614000,-3.295000,0.043000,0.028000,0.009000,11.1716
missense_variant,UPK3B,MISSENSE,NM_030570.3:p.Gln293Arg/c.878A>G,cAa/cGa,MODERATE,,0.340855,0.4425,rs1636632,1(T),0.0(B),0(N),-0.9674(T),,chr7,76144483,76144483,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln293Arg/c.878A>G|320|UPK3B|protein_coding|CODING|NM_030570.3|4|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln238Arg/c.713A>G|265|UPK3B|protein_coding|CODING|NM_182683.2|5|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys265Glu/c.793A>G|276|UPK3B|protein_coding|CODING|NM_182684.2|6|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.316,0.3847,0.4036,0.33,0.22,0.39,,,1.000(P),"0.64,0.64(T,T)",0.0000(T),.,-1.051771,3.76,3.76,-0.224000,0.952000,0.888000,0.349000,0.928000,0.014000,9.2025
missense_variant,UPK3B,MISSENSE,NM_030570.3:p.Trp319Arg/c.955T>C,Tgg/Cgg,MODERATE,COSM4162461(1),0.989217,0.999,rs1799126,1(T),"0.0,0.0(B,B)",0(N),-0.9389(T),,chr7,76144560,76144560,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp319Arg/c.955T>C|320|UPK3B|protein_coding|CODING|NM_030570.3|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp264Arg/c.790T>C|265|UPK3B|protein_coding|CODING|NM_182683.2|5|1),3_prime_UTR_variant(MODIFIER||39|c.*39T>C|276|UPK3B|protein_coding|CODING|NM_182684.2|6|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,1,0.99,0.96,1.00,,0.040188(U),1.000(P),"1.13,1.13,1.13,1.25(T,T,T,T)",0.0000(T),0.16,-2.036836,2.92,-5.85,-2.661000,-1.489000,-0.969000,0.001000,0.000000,0.000000,0.4947
missense_variant,FGL2,MISSENSE,NM_006682.2:p.Gly53Glu/c.158G>A,gGg/gAg,MODERATE,,0.151757,0.2629,rs2075761,0.62(T),0.002(B),0.46(N),-1.0172(T),,chr7,76828953,76828953,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly53Glu/c.158G>A|439|FGL2|protein_coding|CODING|NM_006682.2|1|1),intron_variant(MODIFIER|||c.156+31812C>T|955|CCDC146|protein_coding|CODING|NM_020879.2|2|1)","CD4:H3K9me1,CD4:H2AZ,HSMM:H2AZ,CD4:H3K18ac,HUVEC:H3K27me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,CD4:H4K8ac,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,HSMM:DNase1,K562:H3K27me3,IMR90:H3K27ac,CD4:H4K5ac,CD4:H3K4me2,HSMM:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,CD4:H3K9ac,GM12878:H3K4me2,IMR90:H3K4me3,GM12878:H2AZ",,,,0.1503,0.2622,0.0865,0.08,0.06,0.09,,0.003825(N),0.004(P),0.47(T),0.0000(T),0.058,-1.075790,5.72,3.45,0.655000,1.478000,2.474000,0.240000,0.008000,0.911000,6.6871
missense_variant,CCDC146,MISSENSE,NM_020879.2:p.Asn345Ser/c.1034A>G,aAc/aGc,MODERATE,,0.181709,0.4206,rs1109968,0.74(T),"0.019,0.05(B,B)",0.205(N),-0.9446(T),,chr7,76891485,76891485,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn345Ser/c.1034A>G|955|CCDC146|protein_coding|CODING|NM_020879.2|9|1),GM12878:H3K36me3,,,,0.1237,0.2522,0.0467,0.06,0.09,0.05,,0.034145(N),0.530(P),"1.39,1.39(T,T)",0.0000(T),0.014,0.109187,5.78,4.62,0.460000,2.215000,1.375000,0.967000,1.000000,0.997000,7.2374
synonymous_variant,CCDC146,SILENT,NM_020879.2:p.Gln780Gln/c.2340G>A,caG/caA,LOW,,0.228035,0.0923,rs3763402,,,,,,chr7,76916819,76916819,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln780Gln/c.2340G>A|955|CCDC146|protein_coding|CODING|NM_020879.2|17|1),IMR90:H3K36me3,,,,0.2515,0.1225,0.173,0.25,0.36,0.19,,,,,,,,,,,,,,,,
synonymous_variant,CCDC146,SILENT,NM_020879.2:p.His879His/c.2637C>T,caC/caT,LOW,,0.220447,0.0923,rs17151219,,,,,,chr7,76922490,76922490,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His879His/c.2637C>T|955|CCDC146|protein_coding|CODING|NM_020879.2|18|1),"IMR90:H3K36me3,HepG2:CTCF,GM06990:CTCF",,,,0.2526,0.1196,0.173,0.24,0.35,0.18,,,,,,,,,,,,,,,,
synonymous_variant,GSAP,SILENT,NM_017439.3:p.Cys432Cys/c.1296C>T,tgC/tgT,LOW,COSM3762839(3),0.531949,0.504,rs2037753,,,,,,chr7,76984572,76984572,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys432Cys/c.1296C>T|854|GSAP|protein_coding|CODING|NM_017439.3|16|1),"GM12878:H3K36me3,HepG2:H3K36me3",,,,0.4438,0.4798,0.2962,0.46,0.74,0.32,,,,,,,,,,,,,,,,
synonymous_variant,GSAP,SILENT,NM_017439.3:p.Gly330Gly/c.990G>C,ggG/ggC,LOW,COSM1452148(2),0.301917,0.0873,rs4727366,,,,,,chr7,76990178,76990178,C,G,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly330Gly/c.990G>C|854|GSAP|protein_coding|CODING|NM_017439.3|14|1),"HepG2:H3K27ac,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.3231,0.219,0.2326,0.34,0.50,0.25,,,,,,,,,,,,,,,,
missense_variant,GSAP,MISSENSE,NM_017439.3:p.Gly305Glu/c.914G>A,gGa/gAa,MODERATE,COSM1452150(2),0.301917,0.0883,rs1527263,1(T),"0.0,0.0(B,B)",-1.1(N),-0.9385(T),,chr7,76991935,76991935,C,T,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly305Glu/c.914G>A|854|GSAP|protein_coding|CODING|NM_017439.3|13|1),HepG2:H3K36me3,,,,0.3231,0.219,0.2326,0.34,0.50,0.25,,0.211404(N),1.000(P),2.43(T),0.0000(T),0.049,-1.815517,5.72,4.5,-0.524000,0.999000,1.184000,0.060000,0.947000,0.005000,5.7871
missense_variant,GSAP,MISSENSE,NM_017439.3:p.His47Arg/c.140A>G,cAt/cGt,MODERATE,,0.912939,0.9226,rs6949654,1(T),0.0(B),-1.995(N),-0.9996(T),,chr7,77035392,77035392,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His47Arg/c.140A>G|854|GSAP|protein_coding|CODING|NM_017439.3|2|1),,,,,0.8834,0.8847,0.8579,0.89,0.96,0.86,,0.056170(N),0.000(P),2.54(T),0.0000(T),0.055,-1.360068,5.45,3.65,-0.221000,0.787000,0.090000,0.583000,1.000000,0.765000,7.8122
missense_variant,PTPN12,MISSENSE,NM_002835.3:p.Val322Ile/c.964G>A,Gtc/Atc,MODERATE,COSM1568868(2),0.78734,0.9048,rs9640663,0.55(T),0.002(B),0.51(N),-1.0199(T),,chr7,77247821,77247821,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val203Ile/c.607G>A|661|PTPN12|protein_coding|CODING|NM_001131008.1|12|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val192Ile/c.574G>A|650|PTPN12|protein_coding|CODING|NM_001131009.1|11|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val322Ile/c.964G>A|780|PTPN12|protein_coding|CODING|NM_002835.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7301,0.7695,0.6252,0.67,0.83,0.59,,0.035823(N),0.972(P),"1.36,1.36,1.36(T,T,T)",0.0000(T),0.019,1.817478,5.21,3.41,0.467000,0.696000,2.143000,0.693000,1.000000,1.000000,9.1932
missense_variant,PTPN12,MISSENSE,NM_002835.3:p.Glu706Lys/c.2116G>A,Gaa/Aaa,MODERATE,,0.0309505,0.001,rs2230602,0.76(T),0.002(B),1.43(L),-1.0325(T),,chr7,77265140,77265140,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu587Lys/c.1759G>A|661|PTPN12|protein_coding|CODING|NM_001131008.1|15|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu576Lys/c.1726G>A|650|PTPN12|protein_coding|CODING|NM_001131009.1|14|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu706Lys/c.2116G>A|780|PTPN12|protein_coding|CODING|NM_002835.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0337,0.0418,0.0865,0.05,0.01,0.08,,0.002764(N),0.963(P),"3.84,3.25,3.25,1.48(T,T,T,T)",0.0034(T),0.387,1.815710,5.04,2.11,0.655000,0.599000,0.444000,0.642000,0.956000,0.989000,8.1343
synonymous_variant,RSBN1L,SILENT,NM_198467.2:p.Glu210Glu/c.630A>G,gaA/gaG,LOW,COSM3762841(2),0.577476,0.3095,rs3764824,,,,,,chr7,77365770,77365770,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu210Glu/c.630A>G|846|RSBN1L|protein_coding|CODING|NM_198467.2|2|1),"K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5695,0.4481,0.5219,0.60,0.83,0.51,,,,,,,,,,,,,,,,
synonymous_variant,TMEM60,SILENT,NM_032936.3:p.Phe39Phe/c.117C>T,ttC/ttT,LOW,COSM3762842(1),0.566693,0.3165,rs7953,,,,,,chr7,77423574,77423574,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe39Phe/c.117C>T|133|TMEM60|protein_coding|CODING|NM_032936.3|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.4424,0.508,0.59,0.79,0.49,,,,,,,,,,,,,,,,
missense_variant,PHTF2,MISSENSE,NM_001127359.1:p.Arg350His/c.1049G>A,cGt/cAt,MODERATE,,0.602835,0.7808,rs848486,,"0.0,0.0(B,B)",,-0.9911(T),,chr7,77552127,77552127,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg350His/c.1049G>A|356|PHTF2|protein_coding|CODING|NM_001127359.1|9|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg346His/c.1037G>A|352|PHTF2|protein_coding|CODING|NM_001127360.1|9|1),intron_variant(MODIFIER|||c.1017+32G>A|751|PHTF2|protein_coding|CODING|NM_001127357.1|9|1),intron_variant(MODIFIER|||c.1005+32G>A|747|PHTF2|protein_coding|CODING|NM_001127358.1|9|1),intron_variant(MODIFIER|||c.1005+32G>A|747|PHTF2|protein_coding|CODING|NM_020432.4|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.6391,0.6859,0.5527,0.55,0.46,0.58,,,1.000(P),,0.0000(T),0.016,2.068590,4.87,-0.832,-0.254000,-0.252000,-2.200000,0.213000,0.000000,0.000000,6.3219
synonymous_variant,MAGI2,SILENT,NM_012301.3:p.Pro1443Pro/c.4329C>G,ccC/ccG,LOW,,0.41234,0.628,rs13438302,,,,,,chr7,77648671,77648671,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1429Pro/c.4287C>G|1441|MAGI2|protein_coding|CODING|NM_001301128.1|21|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1443Pro/c.4329C>G|1455|MAGI2|protein_coding|CODING|NM_012301.3|22|1)","K562:ZBTB7A,K562:Max,K562:H3K4me3,K562:PolII,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,K562:SETDB1,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,IMR90:H3K4me3,K562:DNase1",,RCV000081541.2,,0.3967,0.3833,0.1968,0.18,0.29,0.14,,,,,,,,,,,,,,,,
synonymous_variant,MAGI2,SILENT,NM_012301.3:p.Pro1423Pro/c.4269G>C,ccG/ccC,LOW,COSM4162466(1),0.38758,0.5575,rs2960452,,,,,,chr7,77648731,77648731,C,G,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro1409Pro/c.4227G>C|1441|MAGI2|protein_coding|CODING|NM_001301128.1|21|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro1423Pro/c.4269G>C|1455|MAGI2|protein_coding|CODING|NM_012301.3|22|1)","K562:ZBTB7A,K562:Max,K562:H3K4me3,K562:PolII,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:SETDB1,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K27me3,IMR90:H3K4me3,K562:DNase1",,RCV000081540.2,,0.3712,0.3818,0.1889,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAGI2,SILENT,NM_012301.3:p.Leu1119Leu/c.3357A>G,ctA/ctG,LOW,,0.786542,0.5714,rs2074641,,,,,,chr7,77756580,77756580,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1105Leu/c.3315A>G|1441|MAGI2|protein_coding|CODING|NM_001301128.1|18|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1119Leu/c.3357A>G|1455|MAGI2|protein_coding|CODING|NM_012301.3|19|1)",,,RCV000117573.2,,0.7853,0.7205,0.8698,0.88,0.91,0.87,,,,,,,,,,,,,,,,
synonymous_variant,MAGI2,SILENT,NM_012301.3:p.Ser1071Ser/c.3213G>A,tcG/tcA,LOW,COSM3750045(2),0.786342,0.5714,rs7812015,,,,,,chr7,77756724,77756724,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1057Ser/c.3171G>A|1441|MAGI2|protein_coding|CODING|NM_001301128.1|18|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1071Ser/c.3213G>A|1455|MAGI2|protein_coding|CODING|NM_012301.3|19|1)",,,RCV000117572.2,,0.7853,0.7205,0.8688,0.88,0.91,0.87,,,,,,,,,,,,,,,,
synonymous_variant,MAGI2,SILENT,NM_012301.3:p.Lys338Lys/c.1014G>A,aaG/aaA,LOW,,0.323083,0.2321,rs3735442,,,,,,chr7,78119109,78119109,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys338Lys/c.1014G>A|1441|MAGI2|protein_coding|CODING|NM_001301128.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys338Lys/c.1014G>A|1455|MAGI2|protein_coding|CODING|NM_012301.3|6|1)",HUVEC:H3K27me3,,RCV000117565.2,,0.2883,0.2334,0.2952,0.35,0.43,0.30,,,,,,,,,,,,,,,,
synonymous_variant,SEMA3C,SILENT,NM_006379.3:p.Tyr708Tyr/c.2124T>C,taT/taC,LOW,,0.916334,1,rs1949971,,,,,,chr7,80374342,80374342,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr708Tyr/c.2124T>C|751|SEMA3C|protein_coding|CODING|NM_006379.3|18|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9519,0.9885,0.994,0.92,0.78,0.99,,,,,,,,,,,,,,,,
synonymous_variant,SEMA3C,SILENT,NM_006379.3:p.Pro676Pro/c.2028A>G,ccA/ccG,LOW,,0.84405,0.7698,rs1949972,,,,,,chr7,80374438,80374438,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro676Pro/c.2028A>G|751|SEMA3C|protein_coding|CODING|NM_006379.3|18|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9376,0.8991,0.9891,0.90,0.74,0.99,,,,,,,,,,,,,,,,
synonymous_variant,SEMA3C,SILENT,NM_006379.3:p.Val579Val/c.1737C>G,gtC/gtG,LOW,,0.852236,0.7679,rs2272351,,,,,,chr7,80378319,80378319,G,C,hom,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val579Val/c.1737C>G|751|SEMA3C|protein_coding|CODING|NM_006379.3|17|1),"HUVEC:H3K27me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9376,0.9049,0.9901,0.92,0.77,0.99,,,,,,,,,,,,,,,,
synonymous_variant,SEMA3C,SILENT,NM_006379.3:p.Gln508Gln/c.1524G>A,caG/caA,LOW,,0.412141,0.4286,rs1058425,,,,,,chr7,80387766,80387766,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln508Gln/c.1524G>A|751|SEMA3C|protein_coding|CODING|NM_006379.3|15|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.3589,0.3285,0.1928,0.33,0.60,0.19,,,,,,,,,,,,,,,,
synonymous_variant,SEMA3C,SILENT,NM_006379.3:p.Tyr429Tyr/c.1287T>C,taT/taC,LOW,COSM4162470(1),0.11222,0.1131,rs17275986,,,,,,chr7,80418689,80418689,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr429Tyr/c.1287T>C|751|SEMA3C|protein_coding|CODING|NM_006379.3|12|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.1063,0.1138,0.1849,0.16,0.08,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D1,SILENT,NM_000722.2:p.Pro1038Pro/c.3114C>T,ccC/ccT,LOW,COSM150319(2),0.222644,0.2371,rs1229502,,,,,,chr7,81588636,81588636,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1038Pro/c.3114C>T|1091|CACNA2D1|protein_coding|CODING|NM_000722.2|38|1),,,,,0.2495,0.255,0.3042,0.26,0.14,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D1,SILENT,NM_000722.2:p.Ala321Ala/c.963G>A,gcG/gcA,LOW,,0.019369,0,rs2229952,,,,,,chr7,81667468,81667468,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala321Ala/c.963G>A|1091|CACNA2D1|protein_coding|CODING|NM_000722.2|11|1),,,,,0.0276,0.0144,0.0577,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,PCLO,SILENT,NM_033026.5:p.Asp5120Asp/c.15360C>T,gaC/gaT,LOW,,0.00978435,0.0119,rs62465931,,,,,,chr7,82387960,82387960,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp5120Asp/c.15360C>T|5142|PCLO|protein_coding|CODING|NM_033026.5|25|1),HUVEC:H3K27me3,,,,0.0092,0.0058,0.0099,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,PCLO,MISSENSE,NM_033026.5:p.Ser4814Ala/c.14440T>G,Tct/Gct,MODERATE,,0.402556,0.6865,rs2522833,0(D),"0.118,0.118,0.002(B,B,B)",-0.145(N),-0.9709(T),,chr7,82453708,82453708,A,C,het,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser4814Ala/c.14440T>G|4935|PCLO|protein_coding|CODING|NM_014510.2|19|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser4814Ala/c.14440T>G|5142|PCLO|protein_coding|CODING|NM_033026.5|19|1)",,,,,0.5562,0.4164,0.4324,0.32,0.10,0.42,,,0.000(P),"1.01,1.01(T,T)",0.0000(T),0.137,2.173542,5.72,5.72,0.482000,2.179000,5.108000,0.997000,1.000000,1.000000,15.9926
synonymous_variant,PCLO,SILENT,NM_033026.5:p.His4105His/c.12315T>C,caT/caC,LOW,COSM3762847(2),0.426717,0.5466,rs17156844,,,,,,chr7,82544987,82544987,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His4105His/c.12315T>C|4935|PCLO|protein_coding|CODING|NM_014510.2|7|1),synonymous_variant(LOW|SILENT|caT/caC|p.His4105His/c.12315T>C|5142|PCLO|protein_coding|CODING|NM_033026.5|7|1)",GM12878:H3K27me3,,,,0.3804,0.4986,0.2028,0.28,0.41,0.22,,,,,,,,,,,,,,,,
missense_variant,PCLO,MISSENSE,NM_033026.5:p.Ala2804Thr/c.8410G>A,Gca/Aca,MODERATE,COSM3762853(2),0.320088,0.4405,rs976714,0(D),"0.001,0.001(B,B)",-0.69(N),-0.9048(T),,chr7,82581859,82581859,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala2804Thr/c.8410G>A|4935|PCLO|protein_coding|CODING|NM_014510.2|5|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala2804Thr/c.8410G>A|5142|PCLO|protein_coding|CODING|NM_033026.5|5|1)",,,,,0.3988,0.389,0.3608,0.29,0.14,0.36,,,1.000(P),"2.32,2.32(T,T)",0.0000(T),0.014,0.463151,5.69,-5.02,-0.793000,-0.998000,-1.275000,0.627000,0.067000,0.000000,1.6918
missense_variant,PCLO,MISSENSE,NM_033026.5:p.Val2475Ile/c.7423G>A,Gtt/Att,MODERATE,COSM3762859(3),0.320288,0.4425,rs10954696,0(D),"0.002,0.002(B,B)",1.5(L),-0.9481(T),,chr7,82582846,82582846,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val2475Ile/c.7423G>A|4935|PCLO|protein_coding|CODING|NM_014510.2|5|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val2475Ile/c.7423G>A|5142|PCLO|protein_coding|CODING|NM_033026.5|5|1)",,,,,0.3988,0.389,0.3608,0.29,0.14,0.36,,,0.001(P),"2.37,2.36(T,T)",0.0000(T),0.016,-0.970320,4.52,2.62,0.484000,0.847000,-0.776000,0.091000,0.546000,0.000000,8.8003
missense_variant,PCLO,MISSENSE,NM_033026.5:p.Ser814Thr/c.2441G>C,aGc/aCc,MODERATE,,0.808307,0.9931,rs2877,0(D),"0.0,0.0(B,B)",-0.895(N),-0.9677(T),,chr7,82764425,82764425,C,G,hom,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser814Thr/c.2441G>C|4935|PCLO|protein_coding|CODING|NM_014510.2|3|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser814Thr/c.2441G>C|5142|PCLO|protein_coding|CODING|NM_033026.5|3|1)",NHEK:H3K36me3,,,,0.9202,0.781,0.6839,0.69,0.71,0.68,,,1.000(P),"2.36,2.36(T,T)",0.0000(T),0.035,-1.186532,5.91,3.89,-0.744000,0.863000,1.287000,0.010000,0.723000,0.935000,1.0805
missense_variant,PCLO,MISSENSE,NM_033026.5:p.Pro218Leu/c.653C>T,cCg/cTg,MODERATE,,0.00539137,0,rs61738783,0(D),"0.003,0.003(B,B)",0.69(N),-1.0436(T),,chr7,82785304,82785304,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro218Leu/c.653C>T|4935|PCLO|protein_coding|CODING|NM_014510.2|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro218Leu/c.653C>T|5142|PCLO|protein_coding|CODING|NM_033026.5|2|1)","H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.0072,0.0043,0.0169,0.01,0.00,0.02,,,0.992(N),"2.36,2.37(T,T)",0.0170(T),0.046,0.150680,5.48,4.59,0.655000,1.301000,4.026000,0.071000,0.002000,0.613000,12.7097
synonymous_variant,SEMA3E,SILENT,NM_012431.2:p.Leu424Leu/c.1272G>A,ttG/ttA,LOW,,0.339457,0.4454,rs2722974,,,,,,chr7,83029438,83029438,C,T,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu364Leu/c.1092G>A|715|SEMA3E|protein_coding|CODING|NM_001178129.1|11|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu424Leu/c.1272G>A|775|SEMA3E|protein_coding|CODING|NM_012431.2|11|1)",,,,,0.4663,0.3862,0.4443,0.34,0.13,0.45,,,,,,,,,,,,,,,,
synonymous_variant,SEMA3E,SILENT,NM_012431.2:p.Ala201Ala/c.603G>T,gcG/gcT,LOW,COSM3762861(1),0.55631,0.8413,rs2722985,,,,,,chr7,83037751,83037751,C,A,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala141Ala/c.423G>T|715|SEMA3E|protein_coding|CODING|NM_001178129.1|6|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala201Ala/c.603G>T|775|SEMA3E|protein_coding|CODING|NM_012431.2|6|1)",HUVEC:H3K27me3,,,,0.7025,0.6801,0.5984,0.46,0.22,0.59,,,,,,,,,,,,,,,,
missense_variant,SEMA3D,MISSENSE,NM_152754.2:p.Lys701Gln/c.2101A>C,Aag/Cag,MODERATE,COSM1568841(1),0.285543,0.2718,rs7800072,0.6(T),0.0(B),0.55(N),-0.9316(T),,chr7,84628989,84628989,T,G,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys701Gln/c.2101A>C|777|SEMA3D|protein_coding|CODING|NM_152754.2|17|1),,,,,0.2065,0.2421,0.3201,0.34,0.37,0.33,,0.896847(N),0.000(P),1.51(T),0.0000(T),0.01,0.334982,5.73,3.82,-0.121000,0.759000,1.502000,0.986000,0.998000,0.865000,15.0253
synonymous_variant,SEMA3D,SILENT,NM_152754.2:p.Leu526Leu/c.1578G>A,ttG/ttA,LOW,,0.150759,0.0556,rs17559084,,,,,,chr7,84644500,84644500,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu526Leu/c.1578G>A|777|SEMA3D|protein_coding|CODING|NM_152754.2|14|1),K562:CTCF,,,,0.1973,0.2032,0.3211,0.25,0.09,0.33,,,,,,,,,,,,,,,,
synonymous_variant,DMTF1,SILENT,NM_001142327.1:p.Ala91Ala/c.273A>G,gcA/gcG,LOW,COSM4162484(1),0.785543,0.6121,rs3747807,,,,,,chr7,86800351,86800351,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala3Ala/c.9A>G|672|DMTF1|protein_coding|CODING|NM_001142326.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala91Ala/c.273A>G|760|DMTF1|protein_coding|CODING|NM_001142327.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala91Ala/c.273A>G|760|DMTF1|protein_coding|CODING|NM_021145.3|7|1),non_coding_exon_variant(MODIFIER|||n.599A>G||DMTF1||CODING|NR_024549.1|5|1),non_coding_exon_variant(MODIFIER|||n.599A>G||DMTF1||CODING|NR_024550.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8078,0.7853,0.8867,0.85,0.82,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ABCB4,SILENT,NM_018849.2:p.Asn168Asn/c.504C>T,aaC/aaT,LOW,COSM3762867(1),0.347843,0.3839,rs1202283,,,,,,chr7,87082292,87082292,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn168Asn/c.504C>T|1279|ABCB4|protein_coding|CODING|NM_000443.3|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn168Asn/c.504C>T|1286|ABCB4|protein_coding|CODING|NM_018849.2|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn168Asn/c.504C>T|1232|ABCB4|protein_coding|CODING|NM_018850.2|6|1)","GM12878:H3K36me3,HepG2:H3K36me3",,,,0.4448,0.4885,0.5527,0.40,0.12,0.55,,,,,,,,,,,,,,,,
synonymous_variant,ABCB4,SILENT,NM_018849.2:p.Leu59Leu/c.175C>T,Ctg/Ttg,LOW,,0.252396,0.2024,rs2302387,,,,,,chr7,87092185,87092185,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu59Leu/c.175C>T|1279|ABCB4|protein_coding|CODING|NM_000443.3|4|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu59Leu/c.175C>T|1286|ABCB4|protein_coding|CODING|NM_018849.2|4|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu59Leu/c.175C>T|1232|ABCB4|protein_coding|CODING|NM_018850.2|4|1)",HepG2:H3K36me3,,,,0.1401,0.1744,0.1481,0.24,0.43,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ABCB1,SILENT,NM_000927.4:p.Ile1145Ile/c.3435T>C,atT/atC,LOW,,0.604832,0.6022,rs1045642,,,,,,chr7,87138645,87138645,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1145Ile/c.3435T>C|1280|ABCB1|protein_coding|CODING|NM_000927.4|27|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4254,0.572,0.4821,0.58,0.77,0.48,,,,,,,,,,,,,,,,
missense_variant,ABCB1,MISSENSE,NM_000927.4:p.Ser893Ala/c.2677T>G,Tct/Gct,MODERATE,,0.617013,0.4683,rs2032582,1(T),"0.005,0.002(B,B)",-0.98(N),-0.9027(T),,chr7,87160618,87160618,A,C,het,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser893Ala/c.2677T>G|1280|ABCB1|protein_coding|CODING|NM_000927.4|22|1),HepG2:H3K36me3,,,,0.3579,0.572,0.5726,0.68,0.89,0.57,,0.000295(N),0.999(P),"-2.24,-2.24(D,D)",0.0000(T),0.057,0.196173,5.67,3.72,-0.187000,0.319000,2.118000,0.978000,0.999000,0.998000,14.5627
synonymous_variant,ABCB1,SILENT,NM_000927.4:p.Gly412Gly/c.1236T>C,ggT/ggC,LOW,,0.583866,0.373,rs1128503,,,,,,chr7,87179601,87179601,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly412Gly/c.1236T>C|1280|ABCB1|protein_coding|CODING|NM_000927.4|13|1),HepG2:H3K36me3,,,,0.4131,0.5965,0.5845,0.64,0.78,0.57,,,,,,,,,,,,,,,,
missense_variant,ADAM22,MISSENSE,NM_021723.3:p.Pro81Arg/c.242C>G,cCg/cGg,MODERATE,COSM3750053(8),0.630391,0.5407,rs2279542,0.7(T),"0.007,0.003,0.006,0.001,0.003,0.009(B,B,B,B,B,B)",1.27(L),-0.9887(T),,chr7,87564497,87564497,C,G,het,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro81Arg/c.242C>G|859|ADAM22|protein_coding|CODING|NM_004194.3|2|1),missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro81Arg/c.242C>G|870|ADAM22|protein_coding|CODING|NM_016351.4|2|1),missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro81Arg/c.242C>G|823|ADAM22|protein_coding|CODING|NM_021721.3|2|1),missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro81Arg/c.242C>G|899|ADAM22|protein_coding|CODING|NM_021722.4|2|1),missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro81Arg/c.242C>G|906|ADAM22|protein_coding|CODING|NM_021723.3|2|1)","CD4:H2AZ,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HMEC:H3K27me3,HUVEC:H3K4me2,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.3579,0.6282,0.5229,0.63,0.89,0.52,,0.154188(N),1.000(P),"4.56,3.76,2.39,4.56,4.56,4.56,4.56,4.56(T,T,T,T,T,T,T,T)",0.0000(T),0.175,0.350386,4.66,-5.26,-0.738000,-1.699000,-1.004000,0.753000,0.007000,0.000000,1.0673
missense_variant,STEAP4,MISSENSE,NM_001205315.1:p.Gly75Asp/c.224G>A,gGc/gAc,MODERATE,,0.851238,0.9067,rs1981529,1(T),"0.0,0.0,0.0(B,B,B)",-2.58(N),-1.0023(T),,chr7,87913361,87913361,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly75Asp/c.224G>A|459|STEAP4|protein_coding|CODING|NM_001205315.1|3|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly75Asp/c.224G>A|283|STEAP4|protein_coding|CODING|NM_001205316.1|2|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly75Asp/c.224G>A|459|STEAP4|protein_coding|CODING|NM_024636.3|2|1)",HUVEC:H3K27me3,,,,0.7802,0.7752,0.7346,0.81,0.94,0.74,,0.024230(N),1.000(P),"3.37,3.37,3.37(T,T,T)",0.0000(T),0.104,-1.433075,5.91,4.76,-0.269000,0.494000,1.025000,0.745000,0.987000,0.002000,7.326
synonymous_variant,ZNF804B,SILENT,NM_181646.2:p.Val97Val/c.291A>G,gtA/gtG,LOW,,0.30631,0.6716,rs38971,,,,,,chr7,88956699,88956699,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val97Val/c.291A>G|1349|ZNF804B|protein_coding|CODING|NM_181646.2|3|1),,,,,0.2454,0.2738,0.169,0.18,0.20,0.17,,,,,,,,,,,,,,,,
missense_variant,ZNF804B,MISSENSE,NM_181646.2:p.Cys248Tyr/c.743G>A,tGt/tAt,MODERATE,,0.154353,0.4663,rs1916830,0.24(T),0.07(B),0.49(N),-0.9283(T),,chr7,88963039,88963039,G,A,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys248Tyr/c.743G>A|1349|ZNF804B|protein_coding|CODING|NM_181646.2|4|1),,,,,0.1718,0.1542,0.0099,0.01,0.02,0.01,,0.056976(N),0.132(P),3.45(T),0.0000(T),0.093,-0.246003,5.04,4.16,0.655000,1.351000,1.511000,0.116000,0.960000,0.996000,10.9053
synonymous_variant,ZNF804B,SILENT,NM_181646.2:p.Phe568Phe/c.1704C>T,ttC/ttT,LOW,COSM3762873(1),0.509784,0.7153,rs801839,,,,,,chr7,88964000,88964000,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe568Phe/c.1704C>T|1349|ZNF804B|protein_coding|CODING|NM_181646.2|4|1),,,,,0.3988,0.3401,0.2336,0.37,0.64,0.23,,,,,,,,,,,,,,,,
missense_variant,ZNF804B,MISSENSE,NM_181646.2:p.Phe634Ile/c.1900T>A,Ttt/Att,MODERATE,COSM3762874(2),0.520567,0.7153,rs801840,0.08(T),0.0(B),-0.345(N),-1.0815(T),,chr7,88964196,88964196,T,A,het,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe634Ile/c.1900T>A|1349|ZNF804B|protein_coding|CODING|NM_181646.2|4|1),HepG2:CTCF,,,,0.3988,0.3415,0.2346,0.39,0.68,0.24,,0.000738(D),1.000(P),3.73(T),0.0000(T),0.067,0.515659,5.48,4.33,-0.265000,0.518000,3.085000,0.028000,0.702000,1.000000,7.8499
missense_variant,GTPBP10,MISSENSE,NM_033107.3:p.Leu164Phe/c.492G>C,ttG/ttC,MODERATE,COSM3762894(1),0.0505192,0.002,rs35001814,,"0.999,0.995,0.996,0.914(D,D,D,D)",1.575(L),-1.0932(T),,chr7,90001496,90001496,G,C,hom,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu85Phe/c.255G>C|308|GTPBP10|protein_coding|CODING|NM_001042717.2|3|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu164Phe/c.492G>C|387|GTPBP10|protein_coding|CODING|NM_033107.3|5|1)","HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.045,0.0965,0.1302,0.11,0.03,0.15,,0.000000(D),0.000(P),"1.34,1.34,1.17,1.17(T,T,T,T)",0.0011(T),0.432,2.366126,5.91,1.58,-0.136000,0.399000,1.259000,0.987000,1.000000,1.000000,11.8102
missense_variant,GTPBP10,MISSENSE,NM_033107.3:p.Met368Ile/c.1104G>A,atG/atA,MODERATE,COSM3762895(1),0.1873,0.1101,rs17863999,,"0.0,0.0(B,B)",-0.755(N),-0.9878(T),,chr7,90014408,90014408,G,A,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met289Ile/c.867G>A|308|GTPBP10|protein_coding|CODING|NM_001042717.2|8|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met368Ile/c.1104G>A|387|GTPBP10|protein_coding|CODING|NM_033107.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2117,0.2017,0.1859,0.21,0.23,0.21,,0.013241(N),1.000(P),"2.06,2.87(T,T)",0.0000(T),0.007,-0.753690,5.1,-3.82,-3.067000,-1.363000,-0.043000,0.000000,0.000000,0.000000,7.1101
missense_variant,MTERF1,MISSENSE,NM_006980.4:p.Ala294Thr/c.880G>A,Gca/Aca,MODERATE,,0.39996,0.4633,rs10266424,0.62(T),0.0(B),-0.69(N),-0.9494(T),,chr7,91503228,91503228,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala274Thr/c.820G>A|379|MTERF1|protein_coding|CODING|NM_001301134.1|2|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala274Thr/c.820G>A|379|MTERF1|protein_coding|CODING|NM_001301135.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala294Thr/c.880G>A|399|MTERF1|protein_coding|CODING|NM_006980.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4325,0.5,0.5169,0.41,0.24,0.49,,0.567405(N),1.000(P),"2.69,2.69,2.69(T,T,T)",0.0000(T),0.029,-1.775726,4.89,-4.14,-1.451000,-0.441000,-0.680000,0.028000,0.757000,0.000000,6.5365
synonymous_variant,AKAP9,SILENT,NM_005751.4:p.Thr1025Thr/c.3075C>T,acC/acT,LOW,,0.935903,0.9673,rs1989779,,,,,,chr7,91632306,91632306,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1025Thr/c.3075C>T|3907|AKAP9|protein_coding|CODING|NM_005751.4|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1025Thr/c.3075C>T|3899|AKAP9|protein_coding|CODING|NM_147185.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.8865,0.9409,0.8787,0.91,0.97,0.87,,,,,,,,,,,,,,,,
missense_variant,AKAP9,MISSENSE,NM_005751.4:p.Pro2979Ser/c.8935C>T,Cct/Tct,MODERATE,,0.998802,1,rs1063242,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.725(N),-1.0273(T),,chr7,91714911,91714911,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro2979Ser/c.8935C>T|3907|AKAP9|protein_coding|CODING|NM_005751.4|36|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro2971Ser/c.8911C>T|3899|AKAP9|protein_coding|CODING|NM_147185.2|36|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9986,0.997,1.00,1.00,1.00,,0.474583(N),0.001(P),"4.21,4.21,4.2,4.11(T,T,T,T)",0.0000(T),0.22,-0.000082,4.9,2.47,-0.254000,0.093000,0.624000,0.199000,0.932000,0.001000,1.723
synonymous_variant,KRIT1,SILENT,NM_004912.3:p.Val660Val/c.1980A>G,gtA/gtG,LOW,COSM150325(3),0.180511,0.3403,rs11542682,,,,,,chr7,91842554,91842554,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val612Val/c.1836A>G|688|KRIT1|protein_coding|CODING|NM_001013406.1|15|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val660Val/c.1980A>G|736|KRIT1|protein_coding|CODING|NM_004912.3|17|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val660Val/c.1980A>G|736|KRIT1|protein_coding|CODING|NM_194454.1|17|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val660Val/c.1980A>G|736|KRIT1|protein_coding|CODING|NM_194455.1|17|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val660Val/c.1980A>G|736|KRIT1|protein_coding|CODING|NM_194456.1|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1861,0.1239,0.0825,0.10,0.12,0.09,,,,,,,,,,,,,,,,
synonymous_variant,ANKIB1,SILENT,NM_019004.1:p.Ser848Ser/c.2544C>G,tcC/tcG,LOW,COSM3762897(1),0.154752,0.3413,rs1861635,,,,,,chr7,92027537,92027537,C,G,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser848Ser/c.2544C>G|1089|ANKIB1|protein_coding|CODING|NM_019004.1|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.184,0.1167,0.0845,0.08,0.06,0.10,,,,,,,,,,,,,,,,
missense_variant,ANKIB1,MISSENSE,NM_019004.1:p.Leu1016Met/c.3046C>A,Ctg/Atg,MODERATE,COSM3762898(2),0.439097,0.4712,rs38794,0(D),"0.013,0.002(B,B)",0.55(N),-0.9266(T),,chr7,92028039,92028039,C,A,het,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu1016Met/c.3046C>A|1089|ANKIB1|protein_coding|CODING|NM_019004.1|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4918,0.5216,0.5586,0.45,0.28,0.53,,0.852185(N),1.000(P),2.91(T),0.0000(T),0.046,0.922120,5.24,3.36,0.650000,0.836000,1.958000,0.633000,0.164000,0.027000,7.7777
synonymous_variant,PEX1,SILENT,NM_000466.2:p.Gly777Gly/c.2331C>A,ggC/ggA,LOW,,0.94988,0.9653,rs10278857,,,,,,chr7,92131289,92131289,G,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly777Gly/c.2331C>A|1283|PEX1|protein_coding|CODING|NM_000466.2|14|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly720Gly/c.2160C>A|1226|PEX1|protein_coding|CODING|NM_001282677.1|13|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly569Gly/c.1707C>A|1075|PEX1|protein_coding|CODING|NM_001282678.1|14|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,RCV000078920.3,,0.9509,0.9366,0.8936,0.93,0.97,0.91,,,,,,,,,,,,,,,,
missense_variant,CALCR,MISSENSE,NM_001164737.1:p.Ser17Pro/c.49T>C,Tca/Cca,MODERATE,,0.575679,0.7103,rs2301680,1(T),0.0(B),0(N),-0.9371(T),,chr7,93116299,93116299,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser17Pro/c.49T>C|508|CALCR|protein_coding|CODING|NM_001164737.1|4|1),5_prime_UTR_variant(MODIFIER||6|c.-6T>C|474|CALCR|protein_coding|CODING|NM_001164738.1|2|1),5_prime_UTR_variant(MODIFIER||6|c.-6T>C|474|CALCR|protein_coding|CODING|NM_001742.3|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.5746,0.3934,0.4791,0.54,0.61,0.50,,,0.999(P),0.8(T),0.0000(T),0.008,-1.627601,3.92,0.0933,-1.758000,-0.202000,-0.320000,0.112000,0.010000,0.005000,4.1206
missense_variant,COL1A2,MISSENSE,NM_000089.3:p.Pro549Ala/c.1645C>G,Cct/Gct,MODERATE,COSM3762900(1),0.821685,0.9067,rs42524,0.81(T),0.0(B),1.87(L),-0.9026(T),,chr7,94043239,94043239,C,G,hom,missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro549Ala/c.1645C>G|1366|COL1A2|protein_coding|CODING|NM_000089.3|28|1),"H1ESC:H3K36me3,IMR90:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K27me3,IMR90:H3K18ac,HepG2:H3K27me3",,,,0.6636,0.8429,0.7604,0.79,0.88,0.75,,0.000130(N),1.000(P),-4.05(D),0.0000(T),0.126,0.307415,5.66,5.66,-0.120000,1.557000,1.248000,0.985000,0.950000,0.898000,17.2058
missense_variant,SGCE,MISSENSE,NM_001099401.1:p.Ser432Asn/c.1295G>A,aGc/aAc,MODERATE,,0.0153754,0,,0.15(T),0.0(B),0.345(N),-1.0358(T),,chr7,94227275,94227275,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser432Asn/c.1295G>A|462|SGCE|protein_coding|CODING|NM_001099401.1|10|1),intron_variant(MODIFIER|||c.1226+812G>A|451|SGCE|protein_coding|CODING|NM_001099400.1|8|1),intron_variant(MODIFIER|||c.1130+812G>A|396|SGCE|protein_coding|CODING|NM_001301139.1|8|1),intron_variant(MODIFIER|||c.1253+812G>A|437|SGCE|protein_coding|CODING|NM_003919.2|9|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0031,0.036,0.0427,,,,,,1.000(N),0.98(T),0.0481(T),0.011,-2.681226,0.113,-0.226,-2.725000,-2.735000,-2.420000,0.001000,0.002000,0.001000,.
missense_variant,SGCE,MISSENSE,NM_001099401.1:p.Ser432Arg/c.1294A>C,Agc/Cgc,MODERATE,,0.76238,0.7083,rs10247562,0.1(T),0.0(B),-1.505(N),-1.0028(T),,chr7,94227276,94227276,T,G,hom,"missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser432Arg/c.1294A>C|462|SGCE|protein_coding|CODING|NM_001099401.1|10|1),intron_variant(MODIFIER|||c.1226+811A>C|451|SGCE|protein_coding|CODING|NM_001099400.1|8|1),intron_variant(MODIFIER|||c.1130+811A>C|396|SGCE|protein_coding|CODING|NM_001301139.1|8|1),intron_variant(MODIFIER|||c.1253+811A>C|437|SGCE|protein_coding|CODING|NM_003919.2|9|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.6452,0.7032,0.7147,,,,,,1.000(P),1.16(T),0.0000(T),0.029,-2.528823,0.113,0.113,-1.117000,-1.124000,-0.857000,0.002000,0.004000,0.002000,.
missense_variant,PPP1R9A,MISSENSE,NM_001166160.1:p.Asp368Asn/c.1102G>A,Gat/Aat,MODERATE,,0.0159744,0,rs61737465,,"0.001,0.002,0.002,0.001,0.001(B,B,B,B,B)",1.25(L),-0.3742(T),,chr7,94540527,94540527,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp368Asn/c.1102G>A|1374|PPP1R9A|protein_coding|CODING|NM_001166160.1|2|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp368Asn/c.1102G>A|1296|PPP1R9A|protein_coding|CODING|NM_001166161.1|1|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp368Asn/c.1102G>A|1253|PPP1R9A|protein_coding|CODING|NM_001166162.1|1|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp368Asn/c.1102G>A|1090|PPP1R9A|protein_coding|CODING|NM_001166163.1|1|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp368Asn/c.1102G>A|1098|PPP1R9A|protein_coding|CODING|NM_017650.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0112,0.0274,0.0497,0.05,0.01,0.07,,0.001298(N),0.617(D),"-3.28,-3.28,-3.28,-3.28,-3.28,-3.28(D,D,D,D,D,D)",0.1347(T),0.016,2.068739,5.41,4.52,0.555000,1.426000,2.826000,0.266000,1.000000,1.000000,8.7904
missense_variant,PPP1R9A,MISSENSE,NM_001166160.1:p.Arg1039Gln/c.3116G>A,cGa/cAa,MODERATE,,0.604832,0.619,rs854524,0.83(T),"0.0,0.0,0.0,0.0(B,B,B,B)",,-0.9981(T),,chr7,94898811,94898811,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1039Gln/c.3116G>A|1374|PPP1R9A|protein_coding|CODING|NM_001166160.1|14|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1017Gln/c.3050G>A|1253|PPP1R9A|protein_coding|CODING|NM_001166162.1|12|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg999Gln/c.2996G>A|1296|PPP1R9A|protein_coding|CODING|NM_001166161.1|12|1),intron_variant(MODIFIER|||c.2757+792G>A|1090|PPP1R9A|protein_coding|CODING|NM_001166163.1|11|1),intron_variant(MODIFIER|||c.2757+792G>A|1098|PPP1R9A|protein_coding|CODING|NM_017650.2|12|1)","NHEK:H3K27me3,HepG2:H3K36me3",,,,0.5072,0.6599,0.5457,0.59,0.68,0.56,,,0.000(P),"2.6,2.59,2.55,2.59(T,T,T,T)",0.0000(T),0.022,-0.045034,5.07,2.47,-0.352000,0.460000,1.685000,0.680000,0.986000,0.987000,7.1707
missense_variant,PON1,MISSENSE,NM_000446.5:p.Gln192Arg/c.575A>G,cAa/cGa,MODERATE,COSM150330(2),0.542931,0.6657,rs386603940,0.74(T),"0.0,0.0(B,B)",-0.345(N),-0.9878(T),,chr7,94937446,94937446,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln192Arg/c.575A>G|355|PON1|protein_coding|CODING|NM_000446.5|6|1),,,RCV000014739.1|RCV000014740.1,,0.4243,0.4986,0.2903,0.41,0.66,0.28,,0.306026(N),1.000(P),"0.9,0.9(T,T)",0.0000(T),0.07,-1.168995,5.04,-1.02,-0.215000,-0.587000,-1.304000,0.185000,0.001000,0.000000,8.8215
synonymous_variant,PON3,SILENT,NM_000940.2:p.Ala99Ala/c.297G>A,gcG/gcA,LOW,COSM3762904(1),0.660543,0.7788,rs1053275,,,,,,chr7,95001555,95001555,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala99Ala/c.297G>A|354|PON3|protein_coding|CODING|NM_000940.2|4|1),HepG2:H3K36me3,,,,0.7157,0.6772,0.501,0.49,0.57,0.46,,,,,,,,,,,,,,,,
synonymous_variant,PON3,SILENT,NM_000940.2:p.Phe21Phe/c.63C>T,ttC/ttT,LOW,COSM4162508(1),0.304712,0.1667,rs13226149,,,,,,chr7,95025600,95025600,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe21Phe/c.63C>T|354|PON3|protein_coding|CODING|NM_000940.2|1|1),"NHEK:CTCF,CD4:H2AZ,HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,K562:CTCF,GM12878:H3K36me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HepG2:HEY1,GM12878:CTCF,HMEC:CTCF,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,HepG2:Yy1,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1,H1ESC:CTCF",,,,0.408,0.245,0.2555,0.28,0.34,0.25,,,,,,,,,,,,,,,,
missense_variant,PON2,MISSENSE,NM_000305.2:p.Ser311Cys/c.932C>G,tCt/tGt,MODERATE,COSM4162509(1),0.283347,0.1885,rs7493,0.04(D),0.008(B),,-0.9945(T),,chr7,95034775,95034775,G,C,het,"missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser311Cys/c.932C>G|354|PON2|protein_coding|CODING|NM_000305.2|9|1),missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser299Cys/c.896C>G|342|PON2|protein_coding|CODING|NM_001018161.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000007500.1,,0.3865,0.2334,0.2485,0.25,0.28,0.23,,0.000004(D),0.001(P),"0.69,0.69,0.69(T,T,T)",0.0000(T),0.274,1.920948,4.58,3.7,-0.136000,1.303000,9.118000,0.773000,0.994000,1.000000,12.9946
missense_variant,PON2,MISSENSE,NM_000305.2:p.Ala148Gly/c.443C>G,gCa/gGa,MODERATE,,0.282149,0.1885,rs12026,1(T),"0.007,0.007(B,B)",0.55(N),-0.9663(T),,chr7,95041016,95041016,G,C,het,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala136Gly/c.407C>G|342|PON2|protein_coding|CODING|NM_001018161.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala148Gly/c.443C>G|354|PON2|protein_coding|CODING|NM_000305.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000007501.1,,0.3865,0.232,0.2485,0.25,0.28,0.23,,0.000871(D),0.984(P),"2.27,1.09,2.27(T,T,T)",0.0000(T),0.091,0.633000,4.94,2.55,-1.640000,0.452000,5.652000,0.001000,1.000000,1.000000,8.3986
synonymous_variant,PDK4,SILENT,NM_002612.3:p.Ala341Ala/c.1023A>C,gcA/gcC,LOW,,0.541134,0.8651,rs4727323,,,,,,chr7,95216394,95216394,T,G,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala341Ala/c.1023A>C|411|PDK4|protein_coding|CODING|NM_002612.3|10|1),"HUVEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3",,,,0.4438,0.3127,0.3966,0.41,0.52,0.36,,,,,,,,,,,,,,,,
synonymous_variant,PDK4,SILENT,NM_002612.3:p.Tyr332Tyr/c.996C>T,taC/taT,LOW,,0.0722843,0.0704,rs11541299,,,,,,chr7,95216421,95216421,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr332Tyr/c.996C>T|411|PDK4|protein_coding|CODING|NM_002612.3|10|1),"HUVEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3",,,,0.1861,0.0317,0.0656,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A13,SILENT,NM_001160210.1:p.Leu399Leu/c.1197A>G,ttA/ttG,LOW,COSM1453053(2),0.409145,0.6071,rs2301629,,,,,,chr7,95800820,95800820,T,C,hom,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu399Leu/c.1197A>G|676|SLC25A13|protein_coding|CODING|NM_001160210.1|12|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu398Leu/c.1194A>G|675|SLC25A13|protein_coding|CODING|NM_014251.2|12|1),non_coding_exon_variant(MODIFIER|||n.1269A>G||SLC25A13||CODING|NR_027662.1|11|1)","K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5389,0.3357,0.3469,0.32,0.27,0.35,,,,,,,,,,,,,,,,
missense_variant,ASNS,MISSENSE,NM_001673.4:p.Val210Glu/c.629T>A,gTa/gAa,MODERATE,,0.875998,0.9137,rs1049674,0.4(T),0.0(B),-0.805(N),-1.0027(T),,chr7,97488569,97488569,A,T,hom,"missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val189Glu/c.566T>A|540|ASNS|protein_coding|CODING|NM_001178075.1|5|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val127Glu/c.380T>A|478|ASNS|protein_coding|CODING|NM_001178076.1|3|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val127Glu/c.380T>A|478|ASNS|protein_coding|CODING|NM_001178077.1|3|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val210Glu/c.629T>A|561|ASNS|protein_coding|CODING|NM_001673.4|5|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val210Glu/c.629T>A|561|ASNS|protein_coding|CODING|NM_133436.3|5|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val210Glu/c.629T>A|561|ASNS|protein_coding|CODING|NM_183356.3|6|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8824,0.8271,0.7247,0.80,0.94,0.73,,0.000132(N),0.999(P),"0.81,0.81,0.78,0.81,0.8,0.78,0.8,1.05(T,T,T,T,T,T,T,T)",0.0000(T),0.32,-1.302928,4.29,3.04,-0.257000,0.636000,4.408000,0.015000,0.891000,1.000000,6.3751
missense_variant,LMTK2,MISSENSE,NM_014916.3:p.Leu780Met/c.2338T>A,Ttg/Atg,MODERATE,COSM4162514(1),0.223842,0.1528,rs11765552,0.23(T),0.202(B),0.345(N),-0.9957(T),,chr7,97822115,97822115,T,A,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu780Met/c.2338T>A|1503|LMTK2|protein_coding|CODING|NM_014916.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1902,0.3156,0.5119,0.40,0.13,0.55,,0.762926(N),1.000(P),-1.15(T),0.0000(T),0.053,2.047819,5.66,-0.876,0.533000,-0.292000,1.132000,0.033000,0.000000,0.002000,6.0057
synonymous_variant,LMTK2,SILENT,NM_014916.3:p.Pro811Pro/c.2433G>A,ccG/ccA,LOW,COSM4162515(1),0.223842,0.1528,rs3801294,,,,,,chr7,97822210,97822210,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro811Pro/c.2433G>A|1503|LMTK2|protein_coding|CODING|NM_014916.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1902,0.3156,0.5119,0.40,0.13,0.55,,,,,,,,,,,,,,,,
synonymous_variant,BAIAP2L1,SILENT,NM_018842.4:p.Ser506Ser/c.1518G>A,tcG/tcA,LOW,COSM4162518(1),0.266174,0.2688,rs12728,,,,,,chr7,97922851,97922851,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser506Ser/c.1518G>A|511|BAIAP2L1|protein_coding|CODING|NM_018842.4|14|1),downstream_gene_variant(MODIFIER||576||98|BRI3|protein_coding|CODING|NM_001159491.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1585,0.3458,0.4801,0.40,0.20,0.50,,,,,,,,,,,,,,,,
synonymous_variant,BAIAP2L1,SILENT,NM_018842.4:p.Arg498Arg/c.1494C>T,cgC/cgT,LOW,COSM3762911(1),0.147564,0.001,rs13008,,,,,,chr7,97922875,97922875,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg498Arg/c.1494C>T|511|BAIAP2L1|protein_coding|CODING|NM_018842.4|14|1),downstream_gene_variant(MODIFIER||600||98|BRI3|protein_coding|CODING|NM_001159491.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.2637,0.4284,0.34,0.10,0.47,,,,,,,,,,,,,,,,
synonymous_variant,BAIAP2L1,SILENT,NM_018842.4:p.Leu443Leu/c.1329G>A,ttG/ttA,LOW,COSM4006799(2),0.555711,0.6915,rs1045916,,,,,,chr7,97933601,97933601,C,T,hom,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu443Leu/c.1329G>A|511|BAIAP2L1|protein_coding|CODING|NM_018842.4|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4417,0.6787,0.7485,0.62,0.39,0.74,,,,,,,,,,,,,,,,
synonymous_variant,TMEM130,SILENT,NM_001134450.1:p.Val95Val/c.285G>T,gtG/gtT,LOW,COSM4006800(1),0.686502,0.877,rs10238224,,,,,,chr7,98460824,98460824,C,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val95Val/c.285G>T|435|TMEM130|protein_coding|CODING|NM_001134450.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val95Val/c.285G>T|423|TMEM130|protein_coding|CODING|NM_152913.2|2|1),intron_variant(MODIFIER|||c.86-2863G>T|321|TMEM130|protein_coding|CODING|NM_001134451.1|1|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.9018,0.7608,0.8519,0.68,0.33,0.86,,,,,,,,,,,,,,,,
synonymous_variant,SMURF1,SILENT,NM_020429.2:p.Ser166Ser/c.498C>G,tcC/tcG,LOW,COSM3762914(1),0.68151,0.6498,rs219797,,,,,,chr7,98650051,98650051,G,C,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser166Ser/c.498C>G|728|SMURF1|protein_coding|CODING|NM_001199847.1|7|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser166Ser/c.498C>G|757|SMURF1|protein_coding|CODING|NM_020429.2|7|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser166Ser/c.498C>G|731|SMURF1|protein_coding|CODING|NM_181349.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6278,0.5375,0.504,0.64,0.90,0.51,,,,,,,,,,,,,,,,
synonymous_variant,KPNA7,SILENT,NM_001145715.1:p.Thr312Thr/c.936G>A,acG/acA,LOW,COSM3762915(2),0.448083,0.6746,rs10953283,,,,,,chr7,98782750,98782750,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr312Thr/c.936G>A|516|KPNA7|protein_coding|CODING|NM_001145715.1|7|1),"K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,H1ESC:CTCF",,,,0.4162,0.5951,0.6024,0.49,0.18,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ATP5J2-PTCD1,SILENT,NM_001198879.1:p.Thr140Thr/c.420C>A,acC/acA,LOW,COSM3762919(1),0.0946486,0.005,rs11555142,,,,,,chr7,99032593,99032593,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr140Thr/c.420C>A|749|ATP5J2-PTCD1|protein_coding|CODING|NM_001198879.1|3|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr91Thr/c.273C>A|700|PTCD1|protein_coding|CODING|NM_015545.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0481,0.0807,0.1054,0.11,0.19,0.08,,,,,,,,,,,,,,,,
synonymous_variant,CPSF4,SILENT,NM_006693.2:p.Arg129Arg/c.387T>C,cgT/cgC,LOW,COSM3762920(1),0.454673,0.3403,rs386619287,,,,-1.0195(T),,chr7,99047978,99047978,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg129Arg/c.387T>C|244|CPSF4|protein_coding|CODING|NM_001081559.1|4|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg129Arg/c.387T>C|269|CPSF4|protein_coding|CODING|NM_006693.2|4|1),intron_variant(MODIFIER|||c.121+9731A>G|749|ATP5J2-PTCD1|protein_coding|CODING|NM_001198879.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3834,0.2824,0.165,0.36,0.77,0.14,,,0.000(P),,0.0000(T),.,1.224022,5.93,-11.7,-0.733000,-2.308000,-1.672000,0.974000,0.280000,0.000000,5.2076
missense_variant,ZNF789,MISSENSE,NM_213603.2:p.Thr77Ala/c.229A>G,Act/Gct,MODERATE,COSM3762921(2),0.463458,0.3393,rs6962772,0.81(T),0.0(B),0.11(N),-0.9983(T),,chr7,99081730,99081730,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr77Ala/c.229A>G|425|ZNF789|protein_coding|CODING|NM_213603.2|4|1),downstream_gene_variant(MODIFIER||1782||62|ZNF789|protein_coding|CODING|NM_001013258.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.2839,0.165,0.36,0.79,0.14,,,0.274(P),"3.53,5.48(T,T)",0.0000(T),0.012,-0.696284,4.15,-2.85,-0.119000,-0.645000,-0.578000,0.922000,0.007000,0.000000,0.9601
synonymous_variant,FAM200A,SILENT,NM_145111.3:p.Leu62Leu/c.186G>A,ttG/ttA,LOW,COSM3762922(1),0.462061,0.3353,rs10238965,,,,,,chr7,99145845,99145845,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu62Leu/c.186G>A|573|FAM200A|protein_coding|CODING|NM_145111.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.2853,0.165,0.36,0.79,0.14,,,,,,,,,,,,,,,,
missense_variant,CYP3A7-CYP3AP1,MISSENSE,NM_001256497.2:p.Arg409Thr/c.1226G>C,aGa/aCa,MODERATE,,0.669529,0.7123,rs2257401,0.16(T),0.0(B),-1.64(N),-1.0052(T),,chr7,99306685,99306685,C,G,hom,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg409Thr/c.1226G>C|503|CYP3A7|protein_coding|CODING|NM_000765.4|11|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg409Thr/c.1226G>C|535|CYP3A7-CYP3AP1|protein_coding|CODING|NM_001256497.2|11|1)","HUVEC:H3K27me3,HepG2:H3K36me3",,,,0.6493,0.8069,0.9274,0.76,0.48,0.91,,0.166665(N),1.000(P),-0.28(T),0.0000(T),0.065,-0.047459,3.46,1.54,-0.676000,0.114000,2.950000,0.361000,0.373000,0.994000,4.6922
missense_variant,CYP3A43,MISSENSE,NM_022820.4:p.Leu57Val/c.169C>G,Ctt/Gtt,MODERATE,,,,,0.44(T),"0.02,0.021,0.021(B,B,B)",0.165(N),-1.0576(T),,chr7,99436746,99436746,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu57Val/c.169C>G|504|CYP3A43|protein_coding|CODING|NM_022820.4|3|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu57Val/c.169C>G|503|CYP3A43|protein_coding|CODING|NM_057095.2|3|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu57Val/c.169C>G|420|CYP3A43|protein_coding|CODING|NM_057096.3|3|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val97Val/c.291C>G|393|CYP3A43|protein_coding|CODING|NM_001278921.1|4|1),non_coding_exon_variant(MODIFIER|||n.178C>G||CYP3A43||CODING|NR_103868.1|2|1),non_coding_exon_variant(MODIFIER|||n.272C>G||CYP3A43||CODING|NR_103869.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,,,,,,,,0.687156(N),1.000(N),"-0.46,-0.38,-0.46,-0.46(T,T,T,T)",0.1044(T),0.113,-0.006844,2.44,-4.89,0.205000,-2.750000,-3.200000,0.517000,0.000000,0.000000,0.4303
missense_variant,CYP3A43,MISSENSE,NM_022820.4:p.Met275Ile/c.825G>A,atG/atA,MODERATE,COSM1755463(2),0.0105831,0,rs45621431,0(D),"0.08,0.799,0.819,0.886,0.584(B,P,P,P,P)",2.75(M),-0.1583(T),,chr7,99454482,99454482,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met165Ile/c.495G>A|393|CYP3A43|protein_coding|CODING|NM_001278921.1|6|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met275Ile/c.825G>A|504|CYP3A43|protein_coding|CODING|NM_022820.4|9|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met275Ile/c.825G>A|503|CYP3A43|protein_coding|CODING|NM_057095.2|9|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met275Ile/c.825G>A|420|CYP3A43|protein_coding|CODING|NM_057096.3|9|1),non_coding_exon_variant(MODIFIER|||n.785G>A||CYP3A43||CODING|NR_103868.1|7|1),non_coding_exon_variant(MODIFIER|||n.1049G>A||CYP3A43||CODING|NR_103869.1|10|1)","HUVEC:H3K27me3,NH-A:H3K27me3",,,,0.0041,0.0187,0.0338,0.02,0.01,0.03,,0.000000(U),1.000(D),"-0.31,-0.31,-0.31,-0.31,-1.23,-0.31,-0.31(T,T,T,T,T,T,T)",0.3138(T),0.222,3.771492,2.26,2.26,0.195000,1.565000,5.757000,0.276000,0.859000,1.000000,8.0498
synonymous_variant,AZGP1,SILENT,NM_001185.3:p.Ile104Ile/c.312C>T,atC/atT,LOW,,0.374401,0.6409,rs17295356,,,,,,chr7,99569394,99569394,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile104Ile/c.312C>T|298|AZGP1|protein_coding|CODING|NM_001185.3|2|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3885,0.4885,0.4105,0.30,0.13,0.39,,,,,,,,,,,,,,,,
synonymous_variant,MBLAC1,SILENT,NM_203397.1:p.Gly64Gly/c.192G>T,ggG/ggT,LOW,,0.0141773,0.004,rs142426754,,,,,,chr7,99725210,99725210,G,T,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly64Gly/c.192G>T|266|MBLAC1|protein_coding|CODING|NM_203397.1|2|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:TFIIIC-110,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K4ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,,,0.0072,0.0259,0.0388,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,PVRIG,MISSENSE,NM_024070.3:p.Asn81Asp/c.241A>G,Aac/Gac,MODERATE,COSM1132895(1),0.657548,0.38,rs2906645,1(T),0.0(B),-0.975(N),-0.9762(T),,chr7,99817859,99817859,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn81Asp/c.241A>G|326|PVRIG|protein_coding|CODING|NM_024070.3|3|1),intron_variant(MODIFIER|||n.913+2361T>C||GATS||CODING|NR_028040.1|5|1),intron_variant(MODIFIER|||c.*48+3334T>C|163|GATS|protein_coding|CODING|NM_178831.6|4|1),intron_variant(MODIFIER|||n.913+2361T>C||GATS||CODING|NR_028038.1|5|1),intron_variant(MODIFIER|||n.913+2361T>C||GATS||CODING|NR_028039.1|5|1)","H1ESC:H3K36me3,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.7198,0.4971,0.7326,0.76,0.81,0.74,,,1.000(P),1.07(T),0.0000(T),0.008,-2.400509,2.64,1.75,-0.307000,0.210000,0.363000,0.001000,0.000000,0.002000,4.9182
synonymous_variant,GATS,SILENT,NM_178831.6:p.Ser77Ser/c.231G>A,tcG/tcA,LOW,COSM1743408(1),0.657548,0.38,rs863450,,,,,,chr7,99821685,99821685,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser77Ser/c.231G>A|163|GATS|protein_coding|CODING|NM_178831.6|3|1),non_coding_exon_variant(MODIFIER|||n.480G>A||GATS||CODING|NR_028038.1|3|1),non_coding_exon_variant(MODIFIER|||n.480G>A||GATS||CODING|NR_028039.1|3|1),non_coding_exon_variant(MODIFIER|||n.480G>A||GATS||CODING|NR_028040.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7198,0.4986,0.7326,0.77,0.82,0.74,,,,,,,,,,,,,,,,
synonymous_variant,SPDYE3,SILENT,NM_001004351.4:p.Pro525Pro/c.1575G>A,ccG/ccA,LOW,COSM3762944(2),0.0776757,0.0278,rs112622797,,,,,,chr7,99917416,99917416,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro525Pro/c.1575G>A|549|SPDYE3|protein_coding|CODING|NM_001004351.4|9|1),downstream_gene_variant(MODIFIER||847|||PMS2P1||NON_CODING|NR_003613.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1094,0.0879,0.174,0.14,0.04,0.19,,,,,,,,,,,,,,,,
missense_variant,PILRB,MISSENSE,NM_178238.3:p.Ile63Thr/c.188T>C,aTa/aCa,MODERATE,COSM4162547(2),0.0778754,0.0228,rs11771799,,0.0(B),0(N),-0.9906(T),,chr7,99956436,99956436,T,C,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile63Thr/c.188T>C|227|PILRB|protein_coding|CODING|NM_178238.3|2|1),intron_variant(MODIFIER|||n.2143-86T>C||STAG3L5P-PVRIG2P-PILRB||NON_CODING|NR_036570.1|14|1),non_coding_exon_variant(MODIFIER|||n.2733T>C||STAG3L5P-PVRIG2P-PILRB||NON_CODING|NR_036569.1|16|1)","H1ESC:H3K36me3,GM12878:Pax5,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,GM12878:EBF,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,GM12878:NFKB,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:CTCF",,,,0.0818,0.0764,0.1402,,,,,0.971489(N),1.000(N),"2.03,2.03,2.03,2.03,2.03,2.03,2.03,2.03(T,T,T,T,T,T,T,T)",0.0002(T),0.301,-0.167368,2.15,-4.31,-1.498000,-2.434000,-3.095000,0.000000,0.000000,0.000000,3.7711
missense_variant,PILRB,MISSENSE,NM_178238.3:p.Val64Ala/c.191T>C,gTt/gCt,MODERATE,COSM3774306(1),0.0778754,0.0228,rs35986051,,0.003(B),0.695(N),-1.0124(T),,chr7,99956439,99956439,T,C,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val64Ala/c.191T>C|227|PILRB|protein_coding|CODING|NM_178238.3|2|1),intron_variant(MODIFIER|||n.2143-83T>C||STAG3L5P-PVRIG2P-PILRB||NON_CODING|NR_036570.1|14|1),non_coding_exon_variant(MODIFIER|||n.2736T>C||STAG3L5P-PVRIG2P-PILRB||NON_CODING|NR_036569.1|16|1)","H1ESC:H3K36me3,GM12878:Pax5,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,GM12878:EBF,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,GM12878:NFKB,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:CTCF",,,,0.0818,0.0764,0.1402,,,,,0.315070(N),1.000(N),"2.04,2.04,2.04,2.04,2.04,2.04,2.04,2.04(T,T,T,T,T,T,T,T)",0.0003(T),0.282,-1.005939,2.32,-2.11,-1.886000,-0.935000,0.052000,0.000000,0.001000,0.000000,0.2801
missense_variant,PILRB,MISSENSE,NM_178238.3:p.Asn66Asp/c.196A>G,Aac/Gac,MODERATE,COSM4162548(1),,,rs11761306,,0.022(B),1.385(L),-1.0153(T),,chr7,99956444,99956444,A,G,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn66Asp/c.196A>G|227|PILRB|protein_coding|CODING|NM_178238.3|2|1),intron_variant(MODIFIER|||n.2143-78A>G||STAG3L5P-PVRIG2P-PILRB||NON_CODING|NR_036570.1|14|1),non_coding_exon_variant(MODIFIER|||n.2741A>G||STAG3L5P-PVRIG2P-PILRB||NON_CODING|NR_036569.1|16|1)","H1ESC:H3K36me3,GM12878:Pax5,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,GM12878:EBF,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,GM12878:NFKB,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:CTCF",,,,,,,,,,,0.268909(N),1.000(N),"2.02,2.02,2.02,2.02,2.02,2.02,2.02,2.02(T,T,T,T,T,T,T,T)",0.0004(T),0.131,-0.258946,2.48,-4.67,-0.429000,-0.998000,-0.514000,0.002000,0.000000,0.000000,3.8494
synonymous_variant,PILRA,SILENT,NM_013439.2:p.Leu12Leu/c.34T>C,Ttg/Ctg,LOW,,0.660942,0.3869,rs2405442,,,,,,chr7,99971313,99971313,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu12Leu/c.34T>C|303|PILRA|protein_coding|CODING|NM_013439.2|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu12Leu/c.34T>C|230|PILRA|protein_coding|CODING|NM_178272.1|1|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu12Leu/c.34T>C|175|PILRA|protein_coding|CODING|NM_178273.1|1|1)",HepG2:H3K27me3,,,,0.7055,0.4971,0.6789,0.75,0.86,0.69,,,,,,,,,,,,,,,,
missense_variant,PILRA,MISSENSE,NM_013439.2:p.Arg78Gly/c.232A>G,Agg/Ggg,MODERATE,,0.658746,0.3879,rs1859788,,"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.865(N),-1.0115(T),,chr7,99971834,99971834,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg78Gly/c.232A>G|303|PILRA|protein_coding|CODING|NM_013439.2|2|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg78Gly/c.232A>G|230|PILRA|protein_coding|CODING|NM_178272.1|2|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg78Gly/c.232A>G|175|PILRA|protein_coding|CODING|NM_178273.1|2|1)","NHEK:CTCF,GM12878:Pax5,GM12878:H3K4me3,GM12878:H3K27ac,K562:CTCF,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,GM12878:EBF,GM12878:Rad21,GM12878:NFKB,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:CTCF",,,,0.7086,0.4971,0.6789,0.74,0.85,0.69,,0.012112(N),1.000(P),"1.99,1.99,1.99,1.99,1.99(T,T,T,T,T)",0.0000(T),0.067,-1.036090,3.28,3.28,-0.642000,0.975000,1.320000,0.001000,0.103000,0.244000,6.7406
synonymous_variant,ZCWPW1,SILENT,NM_017984.4:p.Tyr27Tyr/c.81C>T,taC/taT,LOW,COSM3762234(1),0.0874601,0.0278,rs7783159,,,,,,chr7,100017454,100017454,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr27Tyr/c.81C>T|524|ZCWPW1|protein_coding|CODING|NM_001258008.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr27Tyr/c.81C>T|648|ZCWPW1|protein_coding|CODING|NM_017984.4|4|1)","HUVEC:H3K27me3,GM12878:EBF",,,,0.1104,0.1066,0.1938,0.15,0.06,0.20,,,,,,,,,,,,,,,,
synonymous_variant,MEPCE,SILENT,NM_019606.5:p.Pro182Pro/c.546C>T,ccC/ccT,LOW,COSM3762235(1),0.117013,0.0218,rs6975729,,,,,,chr7,100028187,100028187,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro182Pro/c.546C>T|689|MEPCE|protein_coding|CODING|NM_019606.5|1|1),upstream_gene_variant(MODIFIER||1756||524|ZCWPW1|protein_coding|CODING|NM_001258008.1||1),upstream_gene_variant(MODIFIER||1756||648|ZCWPW1|protein_coding|CODING|NM_017984.4||1),intron_variant(MODIFIER|||c.-396-466C>T|220|MEPCE|protein_coding|CODING|NM_001194992.1|1|1),intron_variant(MODIFIER|||c.-811-51C>T|220|MEPCE|protein_coding|CODING|NM_001194990.1|1|1),intron_variant(MODIFIER|||c.-396-466C>T|220|MEPCE|protein_coding|CODING|NM_001194991.1|1|1)","K562:ZBTB7A,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM12878:PU1,K562:SP1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.1104,0.1196,0.1928,0.18,0.15,0.20,,,,,,,,,,,,,,,,
synonymous_variant,MEPCE,SILENT,NM_019606.5:p.Ser281Ser/c.843T>C,agT/agC,LOW,COSM4161393(1),0.161142,0.0218,rs6962151,,,,,,chr7,100028484,100028484,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser281Ser/c.843T>C|689|MEPCE|protein_coding|CODING|NM_019606.5|1|1),5_prime_UTR_variant(MODIFIER||565|c.-565T>C|220|MEPCE|protein_coding|CODING|NM_001194990.1|2|1),intron_variant(MODIFIER|||c.-396-169T>C|220|MEPCE|protein_coding|CODING|NM_001194992.1|1|1),intron_variant(MODIFIER|||c.-396-169T>C|220|MEPCE|protein_coding|CODING|NM_001194991.1|1|1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,IMR90:DNase1,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1104,0.1326,0.1948,0.23,0.28,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TSC22D4,SILENT,NM_030935.3:p.Leu351Leu/c.1051T>C,Ttg/Ctg,LOW,COSM451970(1),0.336262,0.0972,rs7806537,,,,,,chr7,100064719,100064719,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu351Leu/c.1051T>C|395|TSC22D4|protein_coding|CODING|NM_030935.3|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4213,0.2651,0.3956,0.40,0.44,0.39,,,,,,,,,,,,,,,,
synonymous_variant,TSC22D4,SILENT,NM_030935.3:p.Pro265Pro/c.795A>G,ccA/ccG,LOW,,0.16254,0.0218,rs386613334,,,,,,chr7,100072031,100072031,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro265Pro/c.795A>G|395|TSC22D4|protein_coding|CODING|NM_030935.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1084,0.134,0.1938,0.23,0.29,0.20,,,,,,,,,,,,,,,,
synonymous_variant,NYAP1,SILENT,NM_173564.3:p.Ser730Ser/c.2190C>G,tcC/tcG,LOW,COSM3762236(1),0.157149,0.0218,rs2897358,,,,,,chr7,100088640,100088640,C,G,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser730Ser/c.2190C>G|841|NYAP1|protein_coding|CODING|NM_173564.3|6|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1084,0.1354,0.1958,0.21,0.25,0.19,,,,,,,,,,,,,,,,
missense_variant,LRCH4,MISSENSE,NM_002319.4:p.Val642Met/c.1924G>A,Gtg/Atg,MODERATE,,0.0623003,0.001,rs3197597,0(D),0.025(B),2.05(M),-1.0526(T),,chr7,100172858,100172858,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val642Met/c.1924G>A|683|LRCH4|protein_coding|CODING|NM_002319.4|18|1),upstream_gene_variant(MODIFIER||1588||199|SAP25|protein_coding|CODING|NM_001168682.1||1),upstream_gene_variant(MODIFIER||502||168|ZASP|protein_coding|CODING|NM_001289933.1||1),intron_variant(MODIFIER|||c.1854+470G>A|652|LRCH4|protein_coding|CODING|NM_001289934.1|17|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,K562:USF1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0961,0.1167,0.1282,0.11,0.03,0.14,,0.087237(N),0.369(P),"1.23,0.66(T,T)",0.0012(T),0.125,2.998121,4.43,3.54,0.555000,1.104000,2.559000,0.352000,0.926000,0.996000,8.223
synonymous_variant,LRCH4,SILENT,NM_002319.4:p.Gly337Gly/c.1011A>G,ggA/ggG,LOW,,0.754593,0.7242,rs909152,,,,,,chr7,100175473,100175473,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly337Gly/c.1011A>G|652|LRCH4|protein_coding|CODING|NM_001289934.1|8|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly337Gly/c.1011A>G|683|LRCH4|protein_coding|CODING|NM_002319.4|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7086,0.5403,0.6909,0.77,0.92,0.69,,,,,,,,,,,,,,,,
missense_variant,FBXO24,MISSENSE,NM_012172.4:p.Thr574Met/c.1721C>T,aCg/aTg,MODERATE,,0.215855,0.0188,rs11768465,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.345(N),-0.8993(T),,chr7,100198386,100198386,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr524Met/c.1571C>T|568|FBXO24|protein_coding|CODING|NM_001163499.1|10|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr574Met/c.1721C>T|618|FBXO24|protein_coding|CODING|NM_012172.4|10|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr536Met/c.1607C>T|580|FBXO24|protein_coding|CODING|NM_033506.2|10|1),upstream_gene_variant(MODIFIER||1496||449|PCOLCE|protein_coding|CODING|NM_002593.3||1),non_coding_exon_variant(MODIFIER|||n.1182G>A||PCOLCE-AS1||NON_CODING|NR_038910.1|4|1)","HeLa-S3:CTCF,HepG2:CTCF,GM06990:CTCF",,,,0.2086,0.2089,0.2107,0.27,0.34,0.23,,0.000324(N),0.000(P),"2.67,2.67,2.68(T,T,T)",0.0000(T),0.05,1.789266,4.22,3.06,-0.593000,0.190000,3.163000,0.790000,0.998000,1.000000,7.1574
synonymous_variant,PCOLCE,SILENT,NM_002593.3:p.Gln167Gln/c.501G>A,caG/caA,LOW,,0.00199681,0,rs144010281,,,,,,chr7,100202751,100202751,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln167Gln/c.501G>A|449|PCOLCE|protein_coding|CODING|NM_002593.3|4|1),upstream_gene_variant(MODIFIER||1090|||PCOLCE-AS1||NON_CODING|NR_038910.1||1)","K562:ZBTB7A,K562:H3K4me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,IMR90:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,K562:H3K4me2,NHEK:DNase1",,,,0,0.0043,0.007,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,GIGYF1,SILENT,NM_022574.4:p.Pro581Pro/c.1743A>G,ccA/ccG,LOW,COSM451988(3),0.861621,0.9206,rs221794,,,,,,chr7,100281768,100281768,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro581Pro/c.1743A>G|1035|GIGYF1|protein_coding|CODING|NM_022574.4|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7853,0.902,0.8231,0.86,0.87,0.85,,,,,,,,,,,,,,,,
synonymous_variant,GIGYF1,SILENT,NM_022574.4:p.Arg279Arg/c.837A>G,cgA/cgG,LOW,,0.00678914,0,rs143725633,,,,,,chr7,100283914,100283914,T,C,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg279Arg/c.837A>G|1035|GIGYF1|protein_coding|CODING|NM_022574.4|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.013,0.0199,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,ZAN,MISSENSE,NM_003386.2:p.Ala1873Glu/c.5618C>A,gCg/gAg,MODERATE,COSM1446672(1),0.483826,0.1796,rs2734880,0.55(T),"0.004,0.004(B,B)",-0.5(N),-0.9590(T),,chr7,100371100,100371100,C,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala1873Glu/c.5618C>A|2811|ZAN|protein_coding|CODING|NM_003386.2|30|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala1873Glu/c.5618C>A|2720|ZAN|protein_coding|CODING|NM_173059.2|30|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.5783C>A||ZAN||CODING|NR_111917.1|30|1),non_coding_exon_variant(MODIFIER|||n.5783C>A||ZAN||CODING|NR_111918.1|30|1),non_coding_exon_variant(MODIFIER|||n.5783C>A||ZAN||CODING|NR_111919.1|30|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.4816,0.3833,0.5815,0.60,0.69,0.56,,0.001756(N),1.000(P),"3.62,3.62,3.62(T,T,T)",0.0000(T),0.295,-1.914539,4.58,-9.15,-2.500000,-2.048000,-0.747000,0.002000,0.000000,0.000000,1.2855
missense_variant,ZAN,MISSENSE,NM_003386.2:p.Pro1878Ser/c.5632C>T,Ccg/Tcg,MODERATE,COSM1446674(1),0.483826,0.1796,rs314298,0.06(T),"0.057,0.094(B,B)",1.7(L),-1.0347(T),,chr7,100371114,100371114,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro1878Ser/c.5632C>T|2811|ZAN|protein_coding|CODING|NM_003386.2|30|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro1878Ser/c.5632C>T|2720|ZAN|protein_coding|CODING|NM_173059.2|30|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.5632C>T|2811|ZAN|protein_coding|CODING|NM_003386.2|30|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.5632C>T|2720|ZAN|protein_coding|CODING|NM_173059.2|30|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||n.5797C>T||ZAN||CODING|NR_111917.1|30|1),splice_region_variant(LOW|||n.5797C>T||ZAN||CODING|NR_111918.1|30|1),splice_region_variant(LOW|||n.5797C>T||ZAN||CODING|NR_111919.1|30|1),non_coding_exon_variant(MODIFIER|||n.5797C>T||ZAN||CODING|NR_111917.1|30|1),non_coding_exon_variant(MODIFIER|||n.5797C>T||ZAN||CODING|NR_111918.1|30|1),non_coding_exon_variant(MODIFIER|||n.5797C>T||ZAN||CODING|NR_111919.1|30|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.4826,0.3833,0.5805,0.60,0.69,0.56,,0.892615(N),0.000(P),"3.33,3.33,3.33(T,T,T)",0.0000(T),0.212,2.034412,4.58,0.249,0.297000,-0.064000,-0.508000,0.062000,0.908000,0.006000,2.9035
missense_variant,ZAN,MISSENSE,NM_003386.2:p.Arg1922Cys/c.5764C>T,Cgt/Tgt,MODERATE,COSM1446676(1),0.237021,0.0327,rs314299,0.04(D),"0.911,0.947(D,D)",2.34(M),0.1893(D),,chr7,100371473,100371473,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1922Cys/c.5764C>T|2811|ZAN|protein_coding|CODING|NM_003386.2|31|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1922Cys/c.5764C>T|2720|ZAN|protein_coding|CODING|NM_173059.2|31|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.5929C>T||ZAN||CODING|NR_111917.1|31|1),non_coding_exon_variant(MODIFIER|||n.5929C>T||ZAN||CODING|NR_111918.1|31|1),non_coding_exon_variant(MODIFIER|||n.5929C>T||ZAN||CODING|NR_111919.1|31|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2853,0.2752,0.5099,,,,,0.569707(N),0.991(P),"2.42,2.42,2.39,-1.45(T,T,T,T)",0.6205(D),0.587,2.978348,4.56,2.64,0.448000,0.550000,0.305000,0.130000,0.443000,0.211000,9.9246
missense_variant,ZAN,MISSENSE,NM_003386.2:p.Met2073Val/c.6217A>G,Atg/Gtg,MODERATE,,0.245208,0.0327,rs314300,0.01(D),"0.996,0.997,0.998(D,D,D)",,-0.8706(T),,chr7,100374087,100374087,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met2073Val/c.6217A>G|2811|ZAN|protein_coding|CODING|NM_003386.2|34|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met2073Val/c.6217A>G|2720|ZAN|protein_coding|CODING|NM_173059.2|34|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.6382A>G||ZAN||CODING|NR_111917.1|34|1),non_coding_exon_variant(MODIFIER|||n.6382A>G||ZAN||CODING|NR_111918.1|34|1),non_coding_exon_variant(MODIFIER|||n.6382A>G||ZAN||CODING|NR_111919.1|34|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2863,0.2839,0.5408,0.42,0.20,0.52,,0.000194(D),0.815(P),"-0.14,-0.14,-0.14,-0.14(T,T,T,T)",0.0000(T),0.216,2.765624,4.82,4.82,0.478000,2.118000,7.130000,0.038000,0.911000,1.000000,11.3758
synonymous_variant,ZAN,SILENT,NM_003386.2:p.Cys2429Cys/c.7287T>C,tgT/tgC,LOW,COSM4161408(1),0.937101,0.9663,rs191137,1(T),"0.0,0.0,0.0(B,B,B)",,-0.9395(T),,chr7,100386900,100386900,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys2429Cys/c.7287T>C|2811|ZAN|protein_coding|CODING|NM_003386.2|39|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys2429Cys/c.7287T>C|2720|ZAN|protein_coding|CODING|NM_173059.2|39|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.7452T>C||ZAN||CODING|NR_111917.1|39|1),non_coding_exon_variant(MODIFIER|||n.7452T>C||ZAN||CODING|NR_111918.1|39|1),non_coding_exon_variant(MODIFIER|||n.7452T>C||ZAN||CODING|NR_111919.1|39|1)","NHEK:CTCF,K562:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,HMEC:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF",,,,0.9223,0.9265,0.9215,0.93,0.96,0.92,,0.047607(N),1.000(P),"0.34,0.34,0.34,0.34(T,T,T,T)",0.0000(T),0.285,0.025420,4.68,2.79,-0.338000,0.232000,0.179000,0.265000,0.000000,0.004000,6.037
synonymous_variant,ZAN,SILENT,NM_003386.2:p.Ser2642Ser/c.7926T>C,agT/agC,LOW,COSM4161410(1),0.344848,0.0655,rs314339,,,,,,chr7,100391581,100391581,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser2642Ser/c.7926T>C|2811|ZAN|protein_coding|CODING|NM_003386.2|43|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.7952-161T>C||ZAN||CODING|NR_111919.1|42|1),intron_variant(MODIFIER|||n.8017-161T>C||ZAN||CODING|NR_111918.1|42|1),intron_variant(MODIFIER|||c.7852-1237T>C|2720|ZAN|protein_coding|CODING|NM_173059.2|42|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.8156T>C||ZAN||CODING|NR_111917.1|43|1)","GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.3313,0.3213,0.5427,0.50,0.45,0.52,,,,,,,,,,,,,,,,
missense_variant,ZAN,MISSENSE,NM_003386.2:p.Ala2761Pro/c.8281G>C,Gcg/Ccg,MODERATE,COSM3927840(2),0.382388,0.0635,rs314344,1(T),"0.0,0.0(B,B)",,-0.9282(T),,chr7,100395003,100395003,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala2761Pro/c.8281G>C|2811|ZAN|protein_coding|CODING|NM_003386.2|46|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala2670Pro/c.8008G>C|2720|ZAN|protein_coding|CODING|NM_173059.2|44|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.8511G>C||ZAN||CODING|NR_111917.1|46|1),non_coding_exon_variant(MODIFIER|||n.8312G>C||ZAN||CODING|NR_111918.1|45|1),non_coding_exon_variant(MODIFIER|||n.8247G>C||ZAN||CODING|NR_111919.1|45|1)",HepG2:H3K27me3,,,,0.4018,0.389,0.6262,0.56,0.47,0.61,,0.131497(N),1.000(P),"2.62,2.02(T,T)",0.0000(T),0.135,-0.201139,4.86,3.05,-0.743000,0.334000,1.133000,0.004000,0.002000,0.069000,5.8436
synonymous_variant,EPHB4,SILENT,NM_004444.4:p.Gly584Gly/c.1752A>G,ggA/ggG,LOW,COSM3762244(3),0.575679,0.6329,rs314359,,,,,,chr7,100411278,100411278,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly584Gly/c.1752A>G|987|EPHB4|protein_coding|CODING|NM_004444.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5573,0.67,0.6282,0.57,0.49,0.61,,,,,,,,,,,,,,,,
synonymous_variant,EPHB4,SILENT,NM_004444.4:p.Ser438Ser/c.1314T>C,tcT/tcC,LOW,,0.563698,0.6399,rs144173,,,,,,chr7,100416250,100416250,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser438Ser/c.1314T>C|987|EPHB4|protein_coding|CODING|NM_004444.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5573,0.6671,0.6282,0.56,0.46,0.61,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A9,SILENT,NM_020246.3:p.Ala418Ala/c.1254T>C,gcT/gcC,LOW,COSM4004177(2),0.578474,0.8095,rs314378,,,,,,chr7,100458795,100458795,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala418Ala/c.1254T>C|631|SLC12A9|protein_coding|CODING|NM_001267812.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala329Ala/c.987T>C|538|SLC12A9|protein_coding|CODING|NM_001267814.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala418Ala/c.1254T>C|914|SLC12A9|protein_coding|CODING|NM_020246.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.6527,0.5159,0.50,0.45,0.52,,,,,,,,,,,,,,,,
missense_variant,TRIP6,MISSENSE,NM_003302.2:p.Val230Ile/c.688G>A,Gtc/Atc,MODERATE,COSM3762245(2),0.271565,0.4464,rs2075756,0.21(T),0.0(B),1.1(L),-1.0368(T),,chr7,100466441,100466441,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val230Ile/c.688G>A|476|TRIP6|protein_coding|CODING|NM_003302.2|4|1),downstream_gene_variant(MODIFIER||1807||914|SLC12A9|protein_coding|CODING|NM_020246.3||1),downstream_gene_variant(MODIFIER||712|||MIR6875||NON_CODING|NR_106935.1||1)","K562:ZBTB7A,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,K562:H3K9ac,NHEK:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.2577,0.4553,0.2644,0.22,0.11,0.27,,0.148728(N),0.999(P),0.25(T),0.0000(T),0.095,3.175315,5.09,5.09,0.561000,2.341000,0.540000,0.787000,0.188000,0.105000,13.9605
synonymous_variant,TRIP6,SILENT,NM_003302.2:p.Val306Val/c.918A>G,gtA/gtG,LOW,COSM1446714(1),0.560104,0.8095,rs1054391,,,,-1.0202(T),,chr7,100468284,100468284,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val306Val/c.918A>G|476|TRIP6|protein_coding|CODING|NM_003302.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5573,0.6513,0.5149,0.48,0.40,0.52,,,0.000(P),,0.0000(T),.,1.550900,5.79,4.91,-0.142000,0.806000,1.009000,0.959000,1.000000,1.000000,8.0257
synonymous_variant,SRRT,SILENT,NM_015908.5:p.Leu265Leu/c.795T>C,ctT/ctC,LOW,,0.576877,0.8095,rs15624,,,,,,chr7,100482026,100482026,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu265Leu/c.795T>C|875|SRRT|protein_coding|CODING|NM_001128852.1|7|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu265Leu/c.795T>C|872|SRRT|protein_coding|CODING|NM_001128853.1|7|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu265Leu/c.795T>C|871|SRRT|protein_coding|CODING|NM_001128854.1|7|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu265Leu/c.795T>C|876|SRRT|protein_coding|CODING|NM_015908.5|7|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.6513,0.5159,0.50,0.44,0.52,,,,,,,,,,,,,,,,
synonymous_variant,UFSP1,SILENT,NM_001015072.3:p.Val79Val/c.237A>C,gtA/gtC,LOW,COSM150343(5),0.651757,0.8175,rs13241786,,,,,,chr7,100486656,100486656,T,G,het,"synonymous_variant(LOW|SILENT|gtA/gtC|p.Val79Val/c.237A>C|142|UFSP1|protein_coding|CODING|NM_001015072.3|1|1),downstream_gene_variant(MODIFIER||959||614|ACHE|protein_coding|CODING|NM_000665.3||1),downstream_gene_variant(MODIFIER||959||526|ACHE|protein_coding|CODING|NM_001282449.1||1),downstream_gene_variant(MODIFIER||959||617|ACHE|protein_coding|CODING|NM_015831.2||1),downstream_gene_variant(MODIFIER||371||875|SRRT|protein_coding|CODING|NM_001128852.1||1),downstream_gene_variant(MODIFIER||371||872|SRRT|protein_coding|CODING|NM_001128853.1||1),downstream_gene_variant(MODIFIER||371||871|SRRT|protein_coding|CODING|NM_001128854.1||1),downstream_gene_variant(MODIFIER||371||876|SRRT|protein_coding|CODING|NM_015908.5||1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.6196,0.6873,0.5427,0.57,0.61,0.55,,,,,,,,,,,,,,,,
missense_variant,ACHE,MISSENSE,NM_015831.2:p.Pro592Arg/c.1775C>G,cCg/cGg,MODERATE,COSM452010(2),0.269369,0.125,rs1799806,0.36(T),0.003(B),,-0.9358(T),,chr7,100488658,100488658,G,C,het,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro592Arg/c.1775C>G|617|ACHE|protein_coding|CODING|NM_015831.2|5|1),upstream_gene_variant(MODIFIER||1319||142|UFSP1|protein_coding|CODING|NM_001015072.3||1),intron_variant(MODIFIER|||c.1723+132C>G|614|ACHE|protein_coding|CODING|NM_000665.3|4|1),intron_variant(MODIFIER|||c.1459+132C>G|526|ACHE|protein_coding|CODING|NM_001282449.1|4|1)","K562:ZBTB7A,K562:PolII,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,H1ESC:H4K5ac,IMR90:H3K27ac,HMEC:H3K4me1,NHEK:H3K4me2,GM12878:H3K4me2,NHEK:DNase1,K562:DNase1",,,,0.3507,0.2795,0.4533,0.34,0.20,0.41,,,0.000(P),"-0.11,-0.11(T,T)",0.0000(T),0.035,2.764618,3.8,1.92,0.448000,0.367000,0.337000,0.965000,0.996000,0.995000,5.4585
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ile29Thr/c.86T>C,aTc/aCc,MODERATE,COSM304006(1),0.000399361,0.002,rs74588241,1(T),,0(N),-0.9843(T),,chr7,100549505,100549505,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile29Thr/c.86T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,0,0,0,,,,,,,,0.0291(T),0.098,0.310017,1.67,-0.558,0.260000,-0.159000,-0.636000,0.076000,0.013000,0.000000,1.9324
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Gln31His/c.93A>T,caA/caT,MODERATE,COSM4161416(2),,,rs77667788,0.55(T),,-0.55(N),-0.9939(T),,chr7,100549512,100549512,A,T,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln31His/c.93A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0211(T),0.072,-0.456119,1.67,-0.979,-2.044000,-0.251000,-2.367000,0.024000,0.000000,0.000000,1.7158
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Pro33Thr/c.97C>A,Cct/Act,MODERATE,COSM4161417(2),,,rs76951301,1(T),,0(N),-0.9884(T),,chr7,100549516,100549516,C,A,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro33Thr/c.97C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0392(T),0.132,0.213199,1.67,1.67,0.313000,1.253000,-0.029000,0.048000,0.003000,0.000000,6.802
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Arg36Arg/c.108A>G,agA/agG,LOW,COSM4161418(1),,,rs77426926,,,,,,chr7,100549527,100549527,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg36Arg/c.108A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ala37Ala/c.111A>G,gcA/gcG,LOW,COSM1622094(2),,,rs77626205,,,,,,chr7,100549530,100549530,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala37Ala/c.111A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala40Thr/c.118G>A,Gcc/Acc,MODERATE,COSM4161419(3),,,rs75781078,1(T),,0(N),-0.9685(T),,chr7,100549537,100549537,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala40Thr/c.118G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0373(T),0.272,0.034895,1.31,0.355,0.313000,0.119000,-0.122000,0.018000,0.002000,0.000000,5.2429
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser41Arg/c.121A>C,Agc/Cgc,MODERATE,COSM4161420(2),,,,0.71(T),,-0.345(N),-0.9957(T),,chr7,100549540,100549540,A,C,het,missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser41Arg/c.121A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0272(T),0.111,-0.224393,1.43,-0.465,-0.755000,-0.167000,-1.306000,0.005000,0.000000,0.000000,2.0942
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala42Thr/c.124G>A,Gct/Act,MODERATE,COSM4161421(3),0.0103834,0,rs79492129,1(T),,0(N),-0.9947(T),,chr7,100549543,100549543,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala42Thr/c.124G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,0,0.0058,0,,,,,,,,0.0290(T),0.081,-0.187345,1.43,-2.87,0.313000,-1.670000,-2.036000,0.006000,0.000000,0.000000,3.3215
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Val43Ala/c.128T>C,gTg/gCg,MODERATE,COSM4161422(3),,,rs77743944,1(T),,-0.55(N),-0.9681(T),,chr7,100549547,100549547,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val43Ala/c.128T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0250(T),0.089,-0.319583,1.43,-2.21,-0.736000,-0.678000,-1.394000,0.012000,0.000000,0.000000,5.2898
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Val43Val/c.129G>C,gtG/gtC,LOW,COSM4161423(4),,,rs76519276,,,,,,chr7,100549548,100549548,G,C,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val43Val/c.129G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Asp52Tyr/c.154G>T,Gac/Tac,MODERATE,COSM4161424(1),,,rs73163748,0.18(T),,-0.345(N),-1.0293(T),,chr7,100549573,100549573,G,T,het,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp52Tyr/c.154G>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0395(T),0.279,0.040880,1.43,1.43,0.313000,1.124000,0.696000,0.033000,0.002000,0.001000,6.3065
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Gly55Glu/c.164G>A,gGg/gAg,MODERATE,COSM4161425(1),,,rs73163749,1(T),,0(N),-0.9602(T),,chr7,100549583,100549583,G,A,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly55Glu/c.164G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0304(T),0.194,-0.470647,1.43,-1.53,-0.671000,-0.590000,-2.458000,0.014000,0.001000,0.000000,5.0907
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Leu58His/c.173T>A,cTt/cAt,MODERATE,COSM4161426(1),,,rs73163750,0.09(T),,0.345(N),-0.9970(T),,chr7,100549592,100549592,T,A,het,missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu58His/c.173T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,0.0635(T),0.55,0.986579,1.43,1.43,0.260000,0.931000,-0.230000,0.054000,0.043000,0.000000,5.015
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Leu58Leu/c.174T>A,ctT/ctA,LOW,COSM4161427(1),,,rs74375072,,,,,,chr7,100549593,100549593,T,A,het,synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu58Leu/c.174T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,H1ESC:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr77Thr/c.231A>G,acA/acG,LOW,,0.00179712,0.0089,rs73398716,,,,,,chr7,100549650,100549650,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr77Thr/c.231A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,H1ESC:DNase1",,,,0,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Asn93Ser/c.278A>G,aAc/aGc,MODERATE,,0.00199681,0.0069,rs77036391,0.9(T),,-0.55(N),-1.0099(T),,chr7,100549697,100549697,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn93Ser/c.278A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,H1ESC:DNase1",,,,0,0.0043,0,,,,,,,,0.0246(T),0.061,-1.519788,1.75,-3.51,-4.101000,-1.667000,-1.456000,0.012000,0.000000,0.000000,4.4221
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Pro95Leu/c.284C>T,cCa/cTa,MODERATE,COSM3745424(1),0.00199681,0.0069,rs78164286,0.31(T),,0(N),-1.0029(T),,chr7,100549703,100549703,C,T,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro95Leu/c.284C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,H1ESC:DNase1",,,,0,0.0043,0,,,,,,,,0.0503(T),0.15,0.862166,1.75,0.824,0.313000,0.291000,-0.098000,0.271000,0.001000,0.000000,5.9827
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser123Leu/c.368C>T,tCa/tTa,MODERATE,COSM304005(1),0.000199681,0,rs73714227,0.29(T),,0.345(N),-0.9850(T),,chr7,100549787,100549787,C,T,het,missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser123Leu/c.368C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0.001,0,0,,,,,,,,0.0577(T),0.296,1.389278,1.55,-1.23,0.313000,-0.348000,-5.624000,0.292000,0.000000,0.000000,6.5863
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser123Ser/c.369A>G,tcA/tcG,LOW,,0.000399361,0,rs78113948,,,,,,chr7,100549788,100549788,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser123Ser/c.369A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0.001,0.0014,0,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr149Met/c.446C>T,aCg/aTg,MODERATE,,0.113818,0.0278,rs35420758,0.07(T),,0.55(N),-1.0298(T),,chr7,100549865,100549865,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr149Met/c.446C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0.0501,0.121,0.2177,,,,,,,,0.0001(T),0.199,1.844996,1.5,-0.735,0.305000,-0.249000,0.791000,0.625000,0.000000,0.003000,4.1193
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala152Thr/c.454G>A,Gcc/Acc,MODERATE,,0.000199681,0,rs74193966,1(T),,0(N),-0.9803(T),,chr7,100549873,100549873,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala152Thr/c.454G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0.001,0,0,,,,,,,,0.0297(T),0.109,1.671007,1.5,0.306,0.305000,0.060000,-0.723000,0.633000,0.048000,0.000000,2.4544
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser155Ser/c.465C>T,agC/agT,LOW,,,,rs73163752,,,,,,chr7,100549884,100549884,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser155Ser/c.465C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser159Pro/c.475T>C,Tcg/Ccg,MODERATE,,,,rs78007565,0.46(T),,0(N),-1.0123(T),,chr7,100549894,100549894,T,C,het,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser159Pro/c.475T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,0.0320(T),0.068,-0.239755,1.01,-2.03,-0.769000,-0.727000,-0.633000,0.076000,0.001000,0.000000,2.437
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser159Ser/c.477G>C,tcG/tcC,LOW,,,,rs79035545,,,,,,chr7,100549896,100549896,G,C,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser159Ser/c.477G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro161Pro/c.483C>T,ccC/ccT,LOW,,,,rs75991009,,,,,,chr7,100549902,100549902,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro161Pro/c.483C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Lys165Lys/c.495G>A,aaG/aaA,LOW,COSM4161429(1),,,rs73714228,,,,,,chr7,100549914,100549914,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys165Lys/c.495G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser172Arg/c.516T>G,agT/agG,MODERATE,COSM4161430(1),,,rs73714229,0.39(T),,0(N),-1.0369(T),,chr7,100549935,100549935,T,G,het,missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser172Arg/c.516T>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,0.0345(T),0.121,-0.932658,1.44,-2.88,-4.203000,-2.368000,-2.963000,0.001000,0.001000,0.000000,4.8568
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser175Pro/c.523T>C,Tct/Cct,MODERATE,COSM4161431(1),,,rs73714230,0.33(T),,0(N),-1.0376(T),,chr7,100549942,100549942,T,C,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser175Pro/c.523T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,0.0252(T),0.075,-0.142861,1.29,-2.55,-0.684000,-1.690000,-0.882000,0.009000,0.000000,0.000000,0.0765
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr183Met/c.548C>T,aCg/aTg,MODERATE,,0.126997,0.0278,rs73714231,0.01(D),,0(N),-1.0016(T),,chr7,100549967,100549967,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr183Met/c.548C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0.0511,0.1239,0.2177,,,,,,,,0.0568(T),0.137,0.901600,1.65,0.741,0.305000,0.243000,1.940000,0.016000,0.000000,0.004000,5.8774
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr187Ile/c.560C>T,aCa/aTa,MODERATE,,,,rs73398717,0.15(T),,0.345(N),-0.9623(T),,chr7,100549979,100549979,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr187Ile/c.560C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,0.0692(T),0.145,-0.229232,1.11,1.11,0.281000,0.916000,0.462000,0.004000,0.001000,0.000000,8.1514
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser220Ser/c.660A>C,tcA/tcC,LOW,,,,rs28379747,,,,,,chr7,100550079,100550079,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser220Ser/c.660A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr238Thr/c.714A>G,acA/acG,LOW,COSM4161432(1),0.000399361,0.001,rs74197937,,,,,,chr7,100550133,100550133,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr238Thr/c.714A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr240Met/c.719C>T,aCg/aTg,MODERATE,COSM4161433(1),0.000199681,0,rs73714233,0.14(T),,0(N),-1.0347(T),,chr7,100550138,100550138,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr240Met/c.719C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0,0.0014,0,,,,,,,,0.0371(T),0.116,-0.194100,1.47,-2.94,-0.856000,-1.027000,-5.602000,0.006000,0.000000,0.000000,3.3998
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser255Ser/c.765C>A,tcC/tcA,LOW,COSM3745425(1),,,rs73714234,,,,,,chr7,100550184,100550184,C,A,het,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser255Ser/c.765C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Pro258Ser/c.772C>T,Ccc/Tcc,MODERATE,,0.330671,0.3373,rs35523587,0.9(T),,0.345(N),-0.9908(T),,chr7,100550191,100550191,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro258Ser/c.772C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.2045,0.536,0.3658,0.26,0.22,0.28,,,,,0.0000(T),0.092,-0.016498,2.21,1.26,0.298000,0.446000,0.178000,0.008000,0.001000,0.001000,6.569
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser262Thr/c.784T>A,Tca/Aca,MODERATE,COSM304007(1),,,rs75141335,1(T),,0.55(N),-0.9379(T),,chr7,100550203,100550203,T,A,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser262Thr/c.784T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,0.44,0.43,0.45,,,,,0.0000(T),0.07,0.168313,1.97,0.671,0.248000,0.182000,-1.002000,0.046000,0.001000,0.000000,2.6834
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser262Ser/c.786A>C,tcA/tcC,LOW,,,,rs77471356,,,,,,chr7,100550205,100550205,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser262Ser/c.786A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,0.43,0.42,0.43,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala276Thr/c.826G>A,Gcc/Acc,MODERATE,COSM304008(3),0.0213658,0,rs66732041,1(T),,-0.345(N),-0.9640(T),,chr7,100550245,100550245,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala276Thr/c.826G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.001,0.0029,0,,,,,,,,0.0277(T),0.057,-0.603875,2.21,-0.711,-2.122000,-0.690000,-0.148000,0.000000,0.000000,0.000000,4.816
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Gln278Arg/c.833A>G,cAg/cGg,MODERATE,,0.000599042,0,rs67587735,0.44(T),,0(N),-1.0211(T),,chr7,100550252,100550252,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln278Arg/c.833A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0,0,0,,,,,,,,0.0241(T),0.076,-1.010945,2.51,-4.87,-1.939000,-1.566000,-0.394000,0.001000,0.000000,0.000000,1.0814
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr284Thr/c.852A>G,acA/acG,LOW,COSM1622095(3),,,rs71540914,,,,,,chr7,100550271,100550271,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr284Thr/c.852A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Pro288Leu/c.863C>T,cCc/cTc,MODERATE,COSM4161434(2),,,rs71540915,0.33(T),,0(N),-1.0243(T),,chr7,100550282,100550282,C,T,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro288Leu/c.863C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0378(T),0.104,-0.343599,2.36,1.46,-0.701000,0.544000,0.321000,0.006000,0.004000,0.000000,3.1714
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr289Ile/c.866C>T,aCt/aTt,MODERATE,COSM4161435(3),,,rs78054189,0.05(D),,0.55(N),-0.9690(T),,chr7,100550285,100550285,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr289Ile/c.866C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0731(T),0.108,0.908308,2.36,0.475,-0.701000,0.099000,0.145000,0.006000,0.000000,0.000000,6.5292
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr289Thr/c.867T>G,acT/acG,LOW,COSM4161436(4),,,rs370230558,,,,,,chr7,100550286,100550286,T,G,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr289Thr/c.867T>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Arg290Ser/c.870G>T,agG/agT,MODERATE,COSM4161437(5),,,rs71540916,1(T),,-0.345(N),-1.0175(T),,chr7,100550289,100550289,G,T,het,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg290Ser/c.870G>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0193(T),0.113,-0.870146,2.36,-4.71,-0.902000,-2.144000,-3.352000,0.021000,0.000000,0.000000,0.3879
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr291Asn/c.872C>A,aCc/aAc,MODERATE,COSM4161438(3),,,rs71540917,0.25(T),,0.345(N),-1.0528(T),,chr7,100550291,100550291,C,A,het,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr291Asn/c.872C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0368(T),0.096,-0.015270,2.36,-4.71,-0.863000,-2.144000,-5.105000,0.042000,0.000000,0.000000,1.5059
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser295Ser/c.885C>T,tcC/tcT,LOW,COSM4161439(3),,,rs71540918,,,,,,chr7,100550304,100550304,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser295Ser/c.885C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Leu299Pro/c.896T>C,cTg/cCg,MODERATE,COSM1622096(6),,,rs76964559,0.93(T),,-0.345(N),-0.9789(T),,chr7,100550315,100550315,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu299Pro/c.896T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0274(T),0.095,0.620096,2.36,-4.71,-0.775000,-1.733000,-0.864000,0.246000,0.000000,0.000000,7.023
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr303Thr/c.909A>G,acA/acG,LOW,COSM4155346(6),,,rs74866207,,,,,,chr7,100550328,100550328,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr303Thr/c.909A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Gly307Arg/c.919G>C,Ggt/Cgt,MODERATE,COSM4161445(1),,,rs75318416,0.42(T),,0(N),-0.9899(T),,chr7,100550338,100550338,G,C,het,missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly307Arg/c.919G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0451(T),0.105,0.093877,1.53,-1.23,0.187000,-0.379000,-4.634000,0.189000,0.000000,0.000000,5.8889
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Gly307Asp/c.920G>A,gGt/gAt,MODERATE,COSM4161446(2),,,rs80152825,0.33(T),,0(N),-1.0399(T),,chr7,100550339,100550339,G,A,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly307Asp/c.920G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0259(T),0.21,-0.132555,1.53,-3.06,0.187000,-1.772000,-4.156000,0.178000,0.000000,0.000000,1.0335
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ile308Thr/c.923T>C,aTc/aCc,MODERATE,COSM4161447(3),,,rs74184351,1(T),,-0.55(N),-0.9802(T),,chr7,100550342,100550342,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile308Thr/c.923T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0198(T),0.07,0.156437,2.29,-2.28,0.157000,-0.537000,-0.756000,0.138000,0.000000,0.000000,3.1835
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro313Pro/c.939C>T,ccC/ccT,LOW,COSM4161450(2),,,rs74184446,,,,,,chr7,100550358,100550358,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro313Pro/c.939C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr319Thr/c.957C>T,acC/acT,LOW,,,,,,,,,,chr7,100550376,100550376,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr319Thr/c.957C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Pro322Leu/c.965C>T,cCc/cTc,MODERATE,,,,rs77636516,0.17(T),,0(N),-1.0211(T),,chr7,100550384,100550384,C,T,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro322Leu/c.965C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0390(T),0.078,0.850861,2.29,-0.969,-1.201000,-0.240000,0.861000,0.077000,0.000000,0.000000,3.5828
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser326Thr/c.977G>C,aGc/aCc,MODERATE,COSM4161451(2),,,rs74213821,1(T),,-0.345(N),-0.9936(T),,chr7,100550396,100550396,G,C,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser326Thr/c.977G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,0.0210(T),0.051,-0.178831,2.29,-1.06,-1.221000,-0.683000,-0.347000,0.076000,0.000000,0.000000,1.296
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Arg327Arg/c.981G>A,agG/agA,LOW,,,,,,,,,,chr7,100550400,100550400,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg327Arg/c.981G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro340Pro/c.1020C>T,ccC/ccT,LOW,,,,rs79004610,,,,,,chr7,100550439,100550439,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro340Pro/c.1020C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr343Ile/c.1028C>T,aCt/aTt,MODERATE,,,,,,,,,,chr7,100550447,100550447,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr343Ile/c.1028C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr345Ser/c.1033A>T,Aca/Tca,MODERATE,,,,,,,,,,chr7,100550452,100550452,A,T,het,missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr345Ser/c.1033A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr348Thr/c.1044T>G,acT/acG,LOW,,,,,,,,,,chr7,100550463,100550463,T,G,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr348Thr/c.1044T>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr349Thr/c.1047C>T,acC/acT,LOW,,,,rs75319202,,,,,,chr7,100550466,100550466,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr349Thr/c.1047C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Lys350Glu/c.1048A>G,Aaa/Gaa,MODERATE,,,,rs78312717,,,,,,chr7,100550467,100550467,A,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys350Glu/c.1048A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Lys350Arg/c.1049A>G,aAa/aGa,MODERATE,,,,rs77331562,,,,,,chr7,100550468,100550468,A,G,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys350Arg/c.1049A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Lys350Asn/c.1050A>C,aaA/aaC,MODERATE,,,,,,,,,,chr7,100550469,100550469,A,C,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys350Asn/c.1050A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala352Thr/c.1054G>A,Gcc/Acc,MODERATE,,0.000798722,0,rs77401364,,,,,,chr7,100550473,100550473,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala352Thr/c.1054G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.0041,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Tyr353Tyr/c.1059C>T,taC/taT,LOW,,,,rs79412130,,,,,,chr7,100550478,100550478,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr353Tyr/c.1059C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr355Thr/c.1065A>C,acA/acC,LOW,,,,,,,,,,chr7,100550484,100550484,A,C,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr355Thr/c.1065A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser356Asn/c.1067G>A,aGt/aAt,MODERATE,,,,,,,,,,chr7,100550486,100550486,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser356Asn/c.1067G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Met357Ile/c.1071G>A,atG/atA,MODERATE,,,,,,,,,,chr7,100550490,100550490,G,A,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met357Ile/c.1071G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr363Thr/c.1089A>T,acA/acT,LOW,,,,,,,,,,chr7,100550508,100550508,A,T,het,synonymous_variant(LOW|SILENT|acA/acT|p.Thr363Thr/c.1089A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Glu364Val/c.1091A>T,gAg/gTg,MODERATE,,,,,,,,,,chr7,100550510,100550510,A,T,het,missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu364Val/c.1091A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Glu364Asp/c.1092G>C,gaG/gaC,MODERATE,,,,rs74435283,,,,,,chr7,100550511,100550511,G,C,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu364Asp/c.1092G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr365Thr/c.1095T>C,acT/acC,LOW,,,,rs78262970,,,,,,chr7,100550514,100550514,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr365Thr/c.1095T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser366Thr/c.1096T>A,Tct/Act,MODERATE,,,,,,,,,,chr7,100550515,100550515,T,A,het,missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser366Thr/c.1096T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Leu367Leu/c.1101C>T,ctC/ctT,LOW,,,,rs77013428,,,,,,chr7,100550520,100550520,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu367Leu/c.1101C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Pro368Arg/c.1103C>G,cCa/cGa,MODERATE,,,,rs76664943,,,,,,chr7,100550522,100550522,C,G,het,missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro368Arg/c.1103C>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Pro375Leu/c.1124C>T,cCa/cTa,MODERATE,,,,rs76777205,,,,,,chr7,100550543,100550543,C,T,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro375Leu/c.1124C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro375Pro/c.1125A>C,ccA/ccC,LOW,,,,rs75037819,,,,,,chr7,100550544,100550544,A,C,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro375Pro/c.1125A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Glu378Val/c.1133A>T,gAa/gTa,MODERATE,,,,rs77957081,,,,,,chr7,100550552,100550552,A,T,het,missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu378Val/c.1133A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr381Thr/c.1143G>A,acG/acA,LOW,,,,rs78069287,,,,,,chr7,100550562,100550562,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr381Thr/c.1143G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr382Ala/c.1144A>G,Act/Gct,MODERATE,,,,rs77561545,,,,,,chr7,100550563,100550563,A,G,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr382Ala/c.1144A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr382Ile/c.1145C>T,aCt/aTt,MODERATE,,,,rs75269566,,,,,,chr7,100550564,100550564,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr382Ile/c.1145C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro383Pro/c.1149T>A,ccT/ccA,LOW,,,,rs78115301,,,,,,chr7,100550568,100550568,T,A,het,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro383Pro/c.1149T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Met384Thr/c.1151T>C,aTg/aCg,MODERATE,,,,rs76035900,,,,,,chr7,100550570,100550570,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met384Thr/c.1151T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Met384Ile/c.1152G>A,atG/atA,MODERATE,,,,,,,,,,chr7,100550571,100550571,G,A,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met384Ile/c.1152G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr390Thr/c.1170C>G,acC/acG,LOW,,,,rs80123018,,,,,,chr7,100550589,100550589,C,G,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr390Thr/c.1170C>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr392Thr/c.1176T>C,acT/acC,LOW,,,,rs80315860,,,,,,chr7,100550595,100550595,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr392Thr/c.1176T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Glu393Lys/c.1177G>A,Gag/Aag,MODERATE,,,,rs74991890,,,,,,chr7,100550596,100550596,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu393Lys/c.1177G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser395Thr/c.1183T>A,Tcc/Acc,MODERATE,,,,rs80036331,,,,,,chr7,100550602,100550602,T,A,het,missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser395Thr/c.1183T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser396Ser/c.1188C>A,tcC/tcA,LOW,,,,rs77396152,,,,,,chr7,100550607,100550607,C,A,het,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser396Ser/c.1188C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro400Pro/c.1200C>T,ccC/ccT,LOW,,,,rs78047302,,,,,,chr7,100550619,100550619,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro400Pro/c.1200C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr412Pro/c.1234A>C,Acc/Ccc,MODERATE,,,,,,,,,,chr7,100550653,100550653,A,C,het,missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr412Pro/c.1234A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Phe440Ile/c.1318T>A,Ttc/Atc,MODERATE,,0.999601,0.998,rs66606045,,,,,,chr7,100550737,100550737,T,A,hom,missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe440Ile/c.1318T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Arg449Ser/c.1347A>C,agA/agC,MODERATE,,,,rs28654698,,,,,,chr7,100550766,100550766,A,C,hom,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg449Ser/c.1347A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Leu456Ser/c.1367T>C,tTg/tCg,MODERATE,,,,rs79714278,,,,,,chr7,100550786,100550786,T,C,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu456Ser/c.1367T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr460Thr/c.1380G>C,acG/acC,LOW,,0.513379,0.5099,rs28705341,,,,,,chr7,100550799,100550799,G,C,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr460Thr/c.1380G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.5204,0.5159,0.495,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr463Thr/c.1389C>A,acC/acA,LOW,,0.0678914,0.0784,rs368043565,,,,,,chr7,100550808,100550808,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr463Thr/c.1389C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.0675,0.0692,0.0984,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser464Ser/c.1392A>C,tcA/tcC,LOW,,0.0678914,0.0784,rs371970072,,,,,,chr7,100550811,100550811,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser464Ser/c.1392A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.0675,0.0692,0.0984,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser466Asn/c.1397G>A,aGt/aAt,MODERATE,,,,rs62483690,,,,,,chr7,100550816,100550816,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser466Asn/c.1397G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Phe470Leu/c.1408T>C,Ttc/Ctc,MODERATE,,,,,,,,,,chr7,100550827,100550827,T,C,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe470Leu/c.1408T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser473Ser/c.1419G>A,tcG/tcA,LOW,,0.228634,0.2321,rs372391962,,,,,,chr7,100550838,100550838,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser473Ser/c.1419G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.1442,0.17,0.2475,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Glu478Lys/c.1432G>A,Gag/Aag,MODERATE,,,,rs113108647,,,,,,chr7,100550851,100550851,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu478Lys/c.1432G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Arg502Arg/c.1506G>C,cgG/cgC,LOW,,0.958267,0.999,rs10953310,,,,,,chr7,100550925,100550925,G,C,hom,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg502Arg/c.1506G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.9376,0.9424,0.9155,0.93,0.96,0.91,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro587Pro/c.1761C>T,ccC/ccT,LOW,,0.407748,0.4464,rs10248095,,,,,,chr7,100551180,100551180,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro587Pro/c.1761C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.3497,0.2882,0.4563,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Glu630Asp/c.1890G>T,gaG/gaT,MODERATE,,,,,0.58(T),,0(N),-1.0243(T),,chr7,100551309,100551309,G,T,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu630Asp/c.1890G>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.711(N),3.14(T),0.0086(T),0.109,-2.455416,1.99,-3.98,-2.837000,-4.789000,-5.997000,0.000000,0.000000,0.000000,2.6188
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser651Cys/c.1951A>T,Agc/Tgc,MODERATE,COSM4161472(3),,,rs78124935,0.01(D),,0(N),-0.9686(T),,chr7,100551370,100551370,A,T,het,missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser651Cys/c.1951A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.999(N),3.17(T),0.0117(T),0.077,0.674527,1.97,-0.838,-1.061000,-0.172000,-0.176000,0.002000,0.000000,0.000000,3.7184
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser651Thr/c.1952G>C,aGc/aCc,MODERATE,COSM4161475(3),,,rs75463292,1(T),,0(N),-0.9298(T),,chr7,100551371,100551371,G,C,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser651Thr/c.1952G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.718(N),3.39(T),0.0066(T),0.009,-0.563707,1.97,1.07,-0.764000,0.009000,1.867000,0.001000,0.000000,0.009000,0.9782
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Arg653Arg/c.1957C>A,Cga/Aga,LOW,COSM4161477(2),,,rs75808610,,,,,,chr7,100551376,100551376,C,A,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg653Arg/c.1957C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro657Pro/c.1971T>A,ccT/ccA,LOW,COSM4161478(2),,,rs77795035,,,,,,chr7,100551390,100551390,T,A,het,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro657Pro/c.1971T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser658Leu/c.1973C>T,tCg/tTg,MODERATE,COSM4161481(1),0.00119808,0.006,rs75008337,0.28(T),,0(N),-0.9739(T),,chr7,100551392,100551392,C,T,het,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser658Leu/c.1973C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0,0,0,,,,,,0.723(N),2.98(T),0.0148(T),0.056,0.539301,1.97,1.08,-0.795000,0.401000,0.250000,0.000000,0.000000,0.000000,6.9613
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser658Ser/c.1974G>A,tcG/tcA,LOW,COSM4161483(2),0.000399361,0.002,rs79067082,,,,,,chr7,100551393,100551393,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser658Ser/c.1974G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Val660Leu/c.1978G>T,Gtg/Ttg,MODERATE,COSM1622097(2),,,rs79748732,0.47(T),,0(N),-0.9782(T),,chr7,100551397,100551397,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val660Leu/c.1978G>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.635(N),3.14(T),0.0084(T),0.081,-2.042679,1.79,-3.58,-2.672000,-2.813000,-4.710000,0.001000,0.000000,0.000000,1.8038
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Gly661Ser/c.1981G>A,Ggc/Agc,MODERATE,COSM4161485(4),,,rs75496565,1(T),,0(N),-0.9173(T),,chr7,100551400,100551400,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly661Ser/c.1981G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,1.000(N),3.34(T),0.0069(T),0.101,-0.765975,1.79,-0.144,-0.757000,-0.047000,-0.403000,0.002000,0.000000,0.000000,3.9651
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Phe672Leu/c.2014T>C,Ttt/Ctt,MODERATE,COSM4161486(2),,,rs73398732,0.56(T),,0(N),-0.9226(T),,chr7,100551433,100551433,T,C,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe672Leu/c.2014T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.718(N),3.41(T),0.0069(T),0.041,-1.050624,1.67,-1.8,-0.817000,-1.085000,-2.658000,0.006000,0.000000,0.000000,2.2068
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr681Ser/c.2042C>G,aCc/aGc,MODERATE,COSM4161488(2),,,rs78826835,0.87(T),,0(N),-0.9099(T),,chr7,100551461,100551461,C,G,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr681Ser/c.2042C>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.635(N),2.96(T),0.0108(T),0.026,-0.468165,1.79,-0.256,-2.623000,-0.430000,-2.141000,0.003000,0.001000,0.000000,7.0121
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr684Thr/c.2052T>C,acT/acC,LOW,COSM4161490(2),,,rs78831742,,,,,,chr7,100551471,100551471,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr684Thr/c.2052T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Arg685Pro/c.2054G>C,cGa/cCa,MODERATE,COSM4161493(1),,,rs79233494,0.43(T),,0(N),-0.9267(T),,chr7,100551473,100551473,G,C,het,missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg685Pro/c.2054G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.711(N),3.31(T),0.0074(T),0.048,-0.415060,1.69,-0.534,-0.764000,-0.601000,-2.165000,0.006000,0.000000,0.000000,1.5585
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr686Ile/c.2057C>T,aCa/aTa,MODERATE,COSM4161495(1),,,rs74460367,0.17(T),,0(N),-0.9779(T),,chr7,100551476,100551476,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr686Ile/c.2057C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.723(N),3.22(T),0.0126(T),0.1,0.060806,1.81,0.906,-0.795000,0.312000,0.090000,0.024000,0.002000,0.000000,6.6923
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Met716Val/c.2146A>G,Atg/Gtg,MODERATE,COSM4161499(1),,,rs73163757,0.52(T),0.0(B),0(N),-0.9421(T),,chr7,100551565,100551565,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met716Val/c.2146A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.648(N),3.32(T),0.0071(T),0.047,-1.882780,1.12,-2.24,-1.069000,-2.304000,-2.449000,0.006000,0.000000,0.000000,0.4885
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Met716Thr/c.2147T>C,aTg/aCg,MODERATE,COSM4161500(1),,,rs78538898,0.73(T),0.0(B),0(N),-0.9094(T),,chr7,100551566,100551566,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met716Thr/c.2147T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,1.000(N),3.4(T),0.0075(T),0.024,-2.750348,1.12,0.095,-0.817000,-0.463000,-0.173000,0.006000,0.000000,0.000000,3.3382
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ile720Ser/c.2159T>G,aTt/aGt,MODERATE,COSM4161502(1),,,rs78584246,1(T),0.0(B),0(N),-0.9417(T),,chr7,100551578,100551578,T,G,het,missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile720Ser/c.2159T>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.711(N),3.4(T),0.0068(T),0.049,-2.496634,1.61,-3.22,-2.716000,-2.781000,-0.657000,0.002000,0.000000,0.000000,4.8121
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ile736Thr/c.2207T>C,aTa/aCa,MODERATE,COSM4161504(1),0.153554,0.0149,rs73714238,0.64(T),0.0(B),0(N),-0.9094(T),,chr7,100551626,100551626,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile736Thr/c.2207T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,0.1963,0.0677,0.0258,,,,,,1.000(N),3.3(T),0.0072(T),0.035,-2.659747,1.62,-2.03,-0.748000,-0.622000,-0.025000,0.016000,0.000000,0.000000,2.9842
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr743Ala/c.2227A>G,Acc/Gcc,MODERATE,COSM1622102(4),,,rs77153975,0.8(T),0.0(B),0(N),-0.8928(T),,chr7,100551646,100551646,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr743Ala/c.2227A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.648(N),3.2(T),0.0093(T),0.052,-0.965170,1.17,-2.35,-2.204000,-1.685000,-1.472000,0.005000,0.000000,0.000000,7.439
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr748Met/c.2243C>T,aCg/aTg,MODERATE,COSM1622104(1),,,rs78684063,0.18(T),0.002(B),0(N),-0.9745(T),,chr7,100551662,100551662,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr748Met/c.2243C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.723(N),3.14(T),0.0109(T),0.022,-0.410148,1.17,-1.1,-2.005000,-0.985000,-1.120000,0.001000,0.000000,0.000000,7.5409
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser749Ser/c.2247A>T,tcA/tcT,LOW,COSM1622106(1),,,rs74318947,,,,,,chr7,100551666,100551666,A,T,het,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser749Ser/c.2247A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser756Ser/c.2268T>C,tcT/tcC,LOW,,,,rs73714240,,,,,,chr7,100551687,100551687,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser756Ser/c.2268T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala758Val/c.2273C>T,gCa/gTa,MODERATE,,,,rs73714242,0.35(T),0.0(B),0(N),-0.9642(T),,chr7,100551692,100551692,C,T,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala758Val/c.2273C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.711(N),3.0(T),0.0119(T),0.044,0.005634,1.31,-2.62,-1.115000,-2.366000,0.810000,0.013000,0.000000,0.019000,5.1298
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr767Met/c.2300C>T,aCg/aTg,MODERATE,,,,rs73714243,0.21(T),0.0(B),0(N),-0.9615(T),,chr7,100551719,100551719,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr767Met/c.2300C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.723(N),3.05(T),0.0112(T),0.031,-0.338956,0.877,-1.75,-3.282000,-2.077000,-0.951000,0.000000,0.000000,0.000000,8.0796
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser770Ser/c.2310C>T,tcC/tcT,LOW,,,,rs73714244,,,,,,chr7,100551729,100551729,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser770Ser/c.2310C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr785Lys/c.2354C>A,aCg/aAg,MODERATE,,,,rs73398734,0.69(T),0.278(B),0(N),-0.9840(T),,chr7,100551773,100551773,C,A,het,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr785Lys/c.2354C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.729(N),3.14(T),0.0079(T),0.034,-0.926627,1.13,-2.25,-0.757000,-1.383000,-1.780000,0.017000,0.000000,0.000000,3.2454
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Val787Met/c.2359G>A,Gtg/Atg,MODERATE,,,,rs73714247,0.28(T),0.0(B),0(N),-0.9457(T),,chr7,100551778,100551778,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val787Met/c.2359G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.635(N),3.21(T),0.0098(T),0.038,0.001850,1.13,-0.48,-1.115000,-1.082000,-0.625000,0.024000,0.001000,0.000000,2.3147
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Val792Phe/c.2374G>T,Gtt/Ttt,MODERATE,,,,rs73398735,0.71(T),0.022(B),0(N),-0.9318(T),,chr7,100551793,100551793,G,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val792Phe/c.2374G>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.711(N),3.26(T),0.0069(T),0.128,-1.521246,1.32,-2.65,-0.757000,-1.240000,-0.567000,0.010000,0.000000,0.000000,3.7291
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser807Ser/c.2421T>A,tcT/tcA,LOW,,,,rs78273697,,,,,,chr7,100551840,100551840,T,A,het,synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser807Ser/c.2421T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr808Ile/c.2423C>T,aCt/aTt,MODERATE,COSM4161506(1),,,rs75365561,0.4(T),0.0(B),0(N),-0.9233(T),,chr7,100551842,100551842,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr808Ile/c.2423C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,0.711(N),3.31(T),0.0088(T),0.062,-0.332461,1.33,-0.808,-2.005000,-0.804000,-0.179000,0.000000,0.000000,0.000000,7.4358
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr808Thr/c.2424T>C,acT/acC,LOW,COSM4161509(1),,,rs75524285,,,,,,chr7,100551843,100551843,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr808Thr/c.2424T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser810Ser/c.2430A>T,tcA/tcT,LOW,COSM4161511(1),,,rs77242346,,,,,,chr7,100551849,100551849,A,T,het,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser810Ser/c.2430A>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Phe866Phe/c.2598C>T,ttC/ttT,LOW,COSM452013(1),0.426717,0.5208,rs9691167,,,,,,chr7,100552017,100552017,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe866Phe/c.2598C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0.3599,0.2939,0.4622,0.35,0.34,0.36,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser867Ala/c.2599T>G,Tcc/Gcc,MODERATE,COSM304010(1),,,rs76249962,0.48(T),0.0(B),0(N),-0.9630(T),,chr7,100552018,100552018,T,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser867Ala/c.2599T>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,1.000(N),3.26(T),0.0094(T),0.045,-2.222524,1.01,-2.02,-2.599000,-3.273000,-3.404000,0.000000,0.000000,0.000000,3.66
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser867Ser/c.2601C>T,tcC/tcT,LOW,,,,rs78680358,,,,,,chr7,100552020,100552020,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser867Ser/c.2601C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser875Ser/c.2625T>G,tcT/tcG,LOW,COSM4161513(1),,,rs73714250,,,,,,chr7,100552044,100552044,T,G,het,synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser875Ser/c.2625T>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Gly892Ala/c.2675G>C,gGc/gCc,MODERATE,,,,rs62483698,1(T),0.0(B),0(N),-0.9517(T),,chr7,100552094,100552094,G,C,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly892Ala/c.2675G>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,,,,0.52,0.55,0.50,,,0.723(P),3.46(T),0.0000(T),0.026,-1.985211,1.5,1.5,-0.647000,0.186000,-0.133000,0.035000,0.000000,0.000000,7.6303
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala900Ser/c.2698G>T,Gca/Tca,MODERATE,,0.000399361,0,rs62483699,1(T),0.292(B),0(N),-1.0662(T),,chr7,100552117,100552117,G,T,het,missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala900Ser/c.2698G>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0,0,0,,,,,,0.627(N),3.2(T),0.0080(T),0.16,-0.775751,1.5,1.5,0.313000,1.115000,-0.427000,0.117000,0.022000,0.000000,3.8787
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser906Pro/c.2716T>C,Tca/Cca,MODERATE,,0.000199681,0,rs62483700,1(T),0.0(B),0(N),-0.9216(T),,chr7,100552135,100552135,T,C,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser906Pro/c.2716T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),GM12878:H3K27me3,,,,0,0,0.001,,,,,,1.000(N),3.16(T),0.0082(T),0.065,-2.265895,1.49,-0.681,-0.684000,-0.724000,-1.218000,0.014000,0.000000,0.000000,2.9809
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser944Ser/c.2832T>C,tcT/tcC,LOW,,0.426917,0.5208,rs9691900,,,,,,chr7,100552251,100552251,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser944Ser/c.2832T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,0.3599,0.2939,0.4632,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr964Thr/c.2892C>T,acC/acT,LOW,,0.155751,0.1706,rs12535515,,,,,,chr7,100552311,100552311,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr964Thr/c.2892C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,0.1881,0.1628,0.2674,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Thr973Thr/c.2919C>T,acC/acT,LOW,,0.000199681,0,rs73398798,,,,,,chr7,100552338,100552338,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr973Thr/c.2919C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,0,0,0,0.45,0.45,0.46,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr980Ser/c.2939C>G,aCc/aGc,MODERATE,,0.000199681,0,rs73714254,1(T),0.0(B),-0.55(N),-0.9283(T),,chr7,100552358,100552358,C,G,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr980Ser/c.2939C>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,0.001,0,0,,,,,,1.000(N),3.13(T),0.0071(T),0.038,-2.420907,1.57,1.57,-0.477000,0.213000,-0.258000,0.009000,0.000000,0.000000,3.8891
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ile984Met/c.2952C>G,atC/atG,MODERATE,,,,rs73714255,0.13(T),0.0(B),-0.695(N),-0.9368(T),,chr7,100552371,100552371,C,G,het,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile984Met/c.2952C>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,,,,,,,,,0.711(N),3.32(T),0.0065(T),0.08,-2.890451,1.56,0.637,-0.499000,-0.154000,-0.573000,0.005000,0.000000,0.000000,0.6537
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Thr989Ala/c.2965A>G,Act/Gct,MODERATE,,,,rs75597914,0.58(T),0.0(B),-0.345(N),-0.9285(T),,chr7,100552384,100552384,A,G,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr989Ala/c.2965A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,,,,,,,,,0.723(N),3.14(T),0.0076(T),0.011,-0.939450,1.57,-0.495,-1.829000,-0.630000,-0.495000,0.003000,0.001000,0.000000,0.2104
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Tyr991His/c.2971T>C,Tat/Cat,MODERATE,,,,rs73714257,0.61(T),0.0(B),0(N),-0.8891(T),,chr7,100552390,100552390,T,C,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr991His/c.2971T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,,,,,,,,,,3.33(T),0.0083(T),0.02,-1.097994,1.57,-3.14,-2.341000,-1.775000,-1.519000,0.017000,0.000000,0.000000,8.738
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Met998Thr/c.2993T>C,aTg/aCg,MODERATE,,,,rs73714259,1(T),0.0(B),-0.345(N),-0.9089(T),,chr7,100552412,100552412,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met998Thr/c.2993T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,,,,,,,,,0.711(N),3.36(T),0.0066(T),0.019,-0.666706,1.57,0.641,-0.473000,-0.154000,0.229000,0.012000,0.000000,0.000000,5.8117
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser1006Thr/c.3016T>A,Tca/Aca,MODERATE,COSM304012(1),,,rs76244845,0.6(T),0.002(B),-0.345(N),-0.9172(T),,chr7,100552435,100552435,T,A,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser1006Thr/c.3016T>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,,,,,,,,,0.723(N),3.41(T),0.0066(T),0.019,-2.213814,1.57,0.22,-0.694000,-0.385000,-1.216000,0.001000,0.000000,0.000000,1.7417
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser1006Leu/c.3017C>T,tCa/tTa,MODERATE,COSM304014(1),,,rs78685360,0.7(T),0.007(B),0(N),-0.8957(T),,chr7,100552436,100552436,C,T,het,missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1006Leu/c.3017C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,,,,,,,,,0.711(N),3.3(T),0.0077(T),0.042,-0.072145,1.25,-2.5,-1.917000,-1.807000,-1.196000,0.000000,0.000000,0.000000,6.8461
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro1007Pro/c.3021C>T,ccC/ccT,LOW,COSM4161514(1),,,rs80290400,,,,,,chr7,100552440,100552440,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1007Pro/c.3021C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ser1039Asn/c.3116G>A,aGt/aAt,MODERATE,,,,rs73163758,0.73(T),0.007(B),0(N),-0.9161(T),,chr7,100552535,100552535,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1039Asn/c.3116G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,,0.723(N),3.24(T),0.0088(T),0.052,-1.993492,1.79,-0.671,0.467000,-0.199000,-2.615000,0.067000,0.003000,0.000000,2.9178
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Ser1039Ser/c.3117T>C,agT/agC,LOW,,0.153355,0.0149,rs73163759,,,,,,chr7,100552536,100552536,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1039Ser/c.3117T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.1963,0.0677,0.0258,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Leu1044Ile/c.3130C>A,Cta/Ata,MODERATE,COSM3831359(1),,,rs73163760,0.21(T),0.0(B),0(N),-0.9843(T),,chr7,100552549,100552549,C,A,het,missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu1044Ile/c.3130C>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,,0.723(N),3.29(T),0.0092(T),0.055,0.643657,1.79,0.871,0.467000,0.294000,-0.131000,0.004000,0.002000,0.000000,5.9851
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Leu1044Pro/c.3131T>C,cTa/cCa,MODERATE,,0.153355,0.0149,rs73163762,0.56(T),0.0(B),-0.805(N),-0.9420(T),,chr7,100552550,100552550,T,C,het,missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu1044Pro/c.3131T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|2|1),"GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.1963,0.0677,0.0258,,,,,,1.000(P),3.28(T),0.0065(T),0.072,-1.985227,1.79,1.79,-0.349000,0.307000,0.080000,0.003000,0.002000,0.000000,6.5333
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Gly1130Gly/c.3390A>C,ggA/ggC,LOW,,0.958267,0.999,rs2904852,,,,,,chr7,100552915,100552915,A,C,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1130Gly/c.3390A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|3|1),"GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.9376,0.9424,0.9155,0.93,0.96,0.91,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Asn1151Asn/c.3453T>C,aaT/aaC,LOW,COSM4161531(1),,,rs73163765,,,,,,chr7,100552978,100552978,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1151Asn/c.3453T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|3|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Gly1153Gly/c.3459T>C,ggT/ggC,LOW,COSM4161533(1),,,rs73163766,,,,,,chr7,100552984,100552984,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1153Gly/c.3459T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|3|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Lys1159Lys/c.3477A>G,aaA/aaG,LOW,,,,rs68094465,,,,,,chr7,100553002,100553002,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1159Lys/c.3477A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|3|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Leu1276Leu/c.3828C>G,ctC/ctG,LOW,,,,rs6960854,,,,,,chr7,100607851,100607851,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1276Leu/c.3828C>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala1283Val/c.3848C>T,gCg/gTg,MODERATE,,,,rs6960868,0.33(T),0.115(B),0.69(N),-1.0822(T),,chr7,100607871,100607871,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1283Val/c.3848C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,"1.38,1.38(T,T)",0.0371(T),0.155,0.040139,2.96,-5.92,-1.284000,-2.696000,-2.266000,0.067000,0.000000,0.000000,1.6712
splice_donor_variant,MUC3A,protein_coding,NM_005960.1:c.3935A>C,,HIGH,COSM1599880(3),,,rs73714276,0.32(T),0.294(B),1.4(L),-1.0575(T),MUC3A:1.00(1);,chr7,100608370,100608370,A,C,het,"splice_donor_variant(HIGH|||c.3935A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|7|1),intron_variant(MODIFIER|||c.3934+1A>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|7|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:DNase1",,,,,,,,,,,,0.974(N),"3.08,2.73(T,T)",0.0270(T),0.277,2.806029,2.09,2.09,0.460000,1.200000,1.884000,0.092000,0.678000,0.906000,6.1656
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Pro1329Pro/c.3987T>C,ccT/ccC,LOW,,0.000798722,0,rs73163792,,,,,,chr7,100608778,100608778,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1329Pro/c.3987T>C|1486|MUC3A|protein_coding|CODING|NM_005960.1|8|1),"CD4:H2AZ,K562:Max,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Leu1330Leu/c.3988C>T,Ctg/Ttg,LOW,,0.000998403,0,rs73163793,,,,,,chr7,100608779,100608779,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1330Leu/c.3988C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|8|1),"CD4:H2AZ,K562:Max,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,RCV000067537.1,,0,0.0014,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Gly1345Gly/c.4035C>G,ggC/ggG,LOW,,,,rs73163794,,,,,,chr7,100608826,100608826,C,G,het,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly1345Gly/c.4035C>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|8|1),"CD4:H2AZ,K562:Max,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC3A,SILENT,NM_005960.1:p.Leu1359Leu/c.4077A>G,ctA/ctG,LOW,COSM4161537(1),,,rs67377634,,,,,,chr7,100608868,100608868,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1359Leu/c.4077A>G|1486|MUC3A|protein_coding|CODING|NM_005960.1|8|1),"CD4:H2AZ,K562:Max,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:SP1,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,H1ESC:H3K4me1,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.Ala1365Thr/c.4093G>A,Gcg/Acg,MODERATE,COSM1547618(4),0.000199681,0.001,rs73163797,0.76(T),0.015(B),-0.145(N),-1.0138(T),,chr7,100608884,100608884,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala1365Thr/c.4093G>A|1486|MUC3A|protein_coding|CODING|NM_005960.1|8|1),"CD4:H2AZ,K562:Max,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:SP1,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0,0,0,,,,,,1.000(N),"0.99,0.99(T,T)",0.0305(T),0.037,-0.858257,2.4,-4.34,-0.680000,-1.380000,-2.604000,0.007000,0.000000,0.000000,3.2845
missense_variant,MUC3A,MISSENSE,NM_005960.1:p.His1462Tyr/c.4384C>T,Cat/Tat,MODERATE,,,,rs10258821,1(T),0.048(B),1.5(L),-0.9313(T),,chr7,100610069,100610069,C,T,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His1462Tyr/c.4384C>T|1486|MUC3A|protein_coding|CODING|NM_005960.1|11|1),"GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1",,,,,,,,,,,,1.000(N),"3.17,2.61(T,T)",0.0224(T),0.073,0.494250,2.8,-0.0808,-0.378000,-0.020000,-0.710000,0.080000,0.016000,0.000000,5.3728
synonymous_variant,MUC12,SILENT,NM_001164462.1:p.Cys14Cys/c.42C>T,tgC/tgT,LOW,COSM4161539(1),,,rs76619309,,,,,,chr7,100612945,100612945,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys14Cys/c.42C>T|5335|MUC12|protein_coding|CODING|NM_001164462.1|1|1),downstream_gene_variant(MODIFIER||1326||1486|MUC3A|protein_coding|CODING|NM_005960.1||1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC12,MISSENSE,NM_001164462.1:p.Val17Ile/c.49G>A,Gtt/Att,MODERATE,COSM4161540(2),,,rs79881008,0(D),,0(N),-0.9756(T),,chr7,100612952,100612952,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val17Ile/c.49G>A|5335|MUC12|protein_coding|CODING|NM_001164462.1|1|1),downstream_gene_variant(MODIFIER||1333||1486|MUC3A|protein_coding|CODING|NM_005960.1||1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"2.76,2.75(T,T)",0.0136(T),0.059,-0.613081,2.18,-2.06,-2.235000,-1.167000,-1.898000,0.000000,0.000000,0.000000,3.8694
missense_variant,MUC12,MISSENSE,NM_001164462.1:p.Val20Leu/c.58G>C,Gtg/Ctg,MODERATE,COSM4161542(1),,,rs78487486,0(D),,0(N),-1.0059(T),,chr7,100612961,100612961,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val20Leu/c.58G>C|5335|MUC12|protein_coding|CODING|NM_001164462.1|1|1),downstream_gene_variant(MODIFIER||1342||1486|MUC3A|protein_coding|CODING|NM_005960.1||1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"2.73,2.72(T,T)",0.0138(T),0.112,-1.116602,2.18,-4.35,-3.198000,-3.009000,-1.610000,0.001000,0.000000,0.000000,0.9842
missense_variant,MUC17,MISSENSE,NM_001040105.1:p.Ile1130Thr/c.3389T>C,aTa/aCa,MODERATE,,0.964657,0.9931,rs4729647,1(T),0.0(B),-0.345(N),-1.0071(T),,chr7,100678086,100678086,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile1130Thr/c.3389T>C|4493|MUC17|protein_coding|CODING|NM_001040105.1|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HeLa-S3:Nrsf,HepG2:H3K27me3",,,,0.9775,0.9553,0.9036,0.92,0.98,0.90,,,1.000(P),4.22(T),0.0000(T),0.011,-0.735097,0.899,-0.0812,-2.919000,-0.659000,-0.519000,0.002000,0.000000,0.000000,3.5883
synonymous_variant,TRIM56,SILENT,NM_030961.1:p.Ala304Ala/c.912C>G,gcC/gcG,LOW,COSM452050(6),0.688299,0.5208,rs4524722,,,,,,chr7,100731505,100731505,C,G,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala304Ala/c.912C>G|755|TRIM56|protein_coding|CODING|NM_030961.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.5375,0.7435,0.83,0.93,0.78,,,,,,,,,,,,,,,,
synonymous_variant,TRIM56,SILENT,NM_030961.1:p.Gly385Gly/c.1155T>G,ggT/ggG,LOW,COSM3774272(1),0.0692891,0.001,rs61730718,,,,,,chr7,100731748,100731748,T,G,het,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly385Gly/c.1155T>G|755|TRIM56|protein_coding|CODING|NM_030961.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0133,0.0605,0.0567,0.10,0.14,0.08,,,,,,,,,,,,,,,,
synonymous_variant,TRIM56,SILENT,NM_030961.1:p.Ala412Ala/c.1236T>C,gcT/gcC,LOW,COSM1568188(1),0.708466,0.5496,rs6948536,,,,,,chr7,100731829,100731829,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala412Ala/c.1236T>C|755|TRIM56|protein_coding|CODING|NM_030961.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.5418,0.7455,0.80,0.93,0.74,,,,,,,,,,,,,,,,
synonymous_variant,TRIM56,SILENT,NM_030961.1:p.Leu435Leu/c.1303T>C,Ttg/Ctg,LOW,,0.0776757,0.001,rs61730716,,,,,,chr7,100731896,100731896,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu435Leu/c.1303T>C|755|TRIM56|protein_coding|CODING|NM_030961.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.0605,0.0567,0.11,0.17,0.08,,,,,,,,,,,,,,,,
synonymous_variant,NAT16,SILENT,NM_198571.2:p.Glu218Glu/c.654G>A,gaG/gaA,LOW,,0.0626997,0.0258,rs12540617,,,,,,chr7,100815816,100815816,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu218Glu/c.654G>A|369|NAT16|protein_coding|CODING|NM_198571.2|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0327,0.3098,0.0378,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CLDN15,SILENT,NM_001185080.1:p.Pro202Pro/c.606A>C,ccA/ccC,LOW,COSM329253(3),0.22504,0.1677,rs1047319,,,,,,chr7,100875772,100875772,T,G,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro202Pro/c.606A>C|228|CLDN15|protein_coding|CODING|NM_001185080.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro202Pro/c.606A>C|228|CLDN15|protein_coding|CODING|NM_014343.2|5|1)","NHEK:H3K9ac,NHEK:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,IMR90:H3K36me3,NHEK:H3K4me2,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.3333,0.2061,0.2435,0.21,0.19,0.23,,,,,,,,,,,,,,,,
synonymous_variant,COL26A1,SILENT,NM_001278563.2:p.Thr21Thr/c.63C>T,acC/acT,LOW,COSM4161676(1),0.621605,0.6786,rs4989267,,,,,,chr7,101006376,101006376,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr21Thr/c.63C>T|440|COL26A1|protein_coding|CODING|NM_001278563.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|acC/acT|p.Thr21Thr/c.63C>T|438|COL26A1|protein_coding|CODING|NM_133457.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.4836,0.4006,0.5338,0.60,0.79,0.50,,,,,,,,,,,,,,,,
synonymous_variant,COL26A1,SILENT,NM_001278563.2:p.Phe23Phe/c.69C>T,ttC/ttT,LOW,COSM4161677(1),0.620208,0.6766,rs4989266,,,,,,chr7,101006382,101006382,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe23Phe/c.69C>T|440|COL26A1|protein_coding|CODING|NM_001278563.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe23Phe/c.69C>T|438|COL26A1|protein_coding|CODING|NM_133457.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.4836,0.3963,0.5328,0.60,0.80,0.51,,,,,,,,,,,,,,,,
synonymous_variant,COL26A1,SILENT,NM_001278563.2:p.Ala414Ala/c.1242G>A,gcG/gcA,LOW,COSM1446841(1),0.321086,0.2401,rs17393069,0.06(T),0.041(B),,-0.9470(T),,chr7,101200727,101200727,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala414Ala/c.1242G>A|440|COL26A1|protein_coding|CODING|NM_001278563.2|13|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala412Ala/c.1236G>A|438|COL26A1|protein_coding|CODING|NM_133457.4|13|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,IMR90:H3K27me3",,,,0.3272,0.3184,0.3728,0.38,0.35,0.39,,0.430603(N),1.000(P),0.95(T),0.0000(T),.,0.702005,3.34,-0.864,-1.140000,-0.188000,-0.071000,0.199000,0.199000,0.053000,4.4918
synonymous_variant,CUX1,SILENT,NM_001202543.1:p.Pro1450Pro/c.4350G>A,ccG/ccA,LOW,COSM4161681(4),0.544529,0.9097,rs410825,,,,,,chr7,101892121,101892121,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1450Pro/c.4350G>A|1516|CUX1|protein_coding|CODING|NM_001202543.1|24|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1439Pro/c.4317G>A|1505|CUX1|protein_coding|CODING|NM_181552.3|24|1),intron_variant(MODIFIER|||c.1208-24516G>A|662|CUX1|protein_coding|CODING|NM_001202544.2|13|1),intron_variant(MODIFIER|||c.1118-24516G>A|632|CUX1|protein_coding|CODING|NM_001202545.2|13|1),intron_variant(MODIFIER|||c.1139-24516G>A|639|CUX1|protein_coding|CODING|NM_001202546.2|13|1),intron_variant(MODIFIER|||c.1256-24516G>A|678|CUX1|protein_coding|CODING|NM_001913.4|14|1),intron_variant(MODIFIER|||c.1250-24516G>A|676|CUX1|protein_coding|CODING|NM_181500.3|14|1)","GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,H1ESC:CTCF",,,,0.5665,0.5,0.4901,,,,,,,,,,,,,,,,,,,
synonymous_variant,CUX1,SILENT,NM_001913.4:p.Ala422Ala/c.1266A>G,gcA/gcG,LOW,COSM3721378(2),0.733626,0.5188,rs813000,,,,,,chr7,101916647,101916647,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala406Ala/c.1218A>G|662|CUX1|protein_coding|CODING|NM_001202544.2|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala376Ala/c.1128A>G|632|CUX1|protein_coding|CODING|NM_001202545.2|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala383Ala/c.1149A>G|639|CUX1|protein_coding|CODING|NM_001202546.2|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala422Ala/c.1266A>G|678|CUX1|protein_coding|CODING|NM_001913.4|15|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala420Ala/c.1260A>G|676|CUX1|protein_coding|CODING|NM_181500.3|15|1)","HepG2:H3K4me2,HepG2:H3K4me3",,,,0.6861,0.6599,0.7227,0.81,0.93,0.75,,,,,,,,,,,,,,,,
missense_variant,CUX1,MISSENSE,NM_001913.4:p.Ala464Thr/c.1390G>A,Gct/Act,MODERATE,COSM1755000(2),0.559105,0.498,rs803064,0.61(T),"0.021,0.052,0.041,0.006(B,B,B,B)",1.24(L),-0.9529(T),,chr7,101917521,101917521,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala448Thr/c.1342G>A|662|CUX1|protein_coding|CODING|NM_001202544.2|15|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala418Thr/c.1252G>A|632|CUX1|protein_coding|CODING|NM_001202545.2|15|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala425Thr/c.1273G>A|639|CUX1|protein_coding|CODING|NM_001202546.2|15|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala464Thr/c.1390G>A|678|CUX1|protein_coding|CODING|NM_001913.4|16|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala462Thr/c.1384G>A|676|CUX1|protein_coding|CODING|NM_181500.3|16|1)","HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,HeLa-S3:Max,K562:USF1,HSMM:DNase1,HepG2:DNase1,K562:DNase1",,,,0.6043,0.5072,0.5358,0.57,0.59,0.57,,,1.000(P),"1.51,1.51,1.51,1.51(T,T,T,T)",0.0000(T),0.273,0.488701,4.64,-0.106,-0.918000,0.064000,2.486000,0.029000,0.020000,0.807000,7.499
synonymous_variant,LRWD1,SILENT,NM_152892.1:p.Thr538Thr/c.1614G>A,acG/acA,LOW,COSM452074(7),0.461661,0.372,rs3800987,,,,-1.0393(T),,chr7,102112980,102112980,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr538Thr/c.1614G>A|647|LRWD1|protein_coding|CODING|NM_152892.1|13|1),downstream_gene_variant(MODIFIER||568||117|POLR2J|protein_coding|CODING|NM_006234.4||1),downstream_gene_variant(MODIFIER||1002|||MIR4467||NON_CODING|NR_039677.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.4836,0.5519,0.662,0.55,0.36,0.64,,,1.000(P),,0.0000(T),.,-1.162080,5.1,-10.2,-1.058000,-3.315000,-7.784000,0.027000,0.000000,0.000000,4.6709
missense_variant,UPK3BL,MISSENSE,NM_001114403.2:p.Glu171Lys/c.511G>A,Gaa/Aaa,MODERATE,COSM150363(6),,,rs201558735,0.86(T),,-0.205(N),-1.0265(T),,chr7,102279621,102279621,C,T,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu171Lys/c.511G>A|263|UPK3BL|protein_coding|CODING|NM_001114403.2|4|1),3_prime_UTR_variant(MODIFIER||26957|c.*453G>A|115|POLR2J2|protein_coding|CODING|NM_032959.5|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,,,,,,,,,1.000(N),"0.04,0.04(T,T)",0.0717(T),0.303,-1.134744,1.82,-0.237,0.186000,-0.225000,-0.872000,0.095000,0.168000,0.000000,3.8141
missense_variant,FAM185A,MISSENSE,NM_001145268.1:p.Gly60Ala/c.179G>C,gGg/gCg,MODERATE,COSM3762294(2),,,rs28695887,0.77(T),"0.0,0.0(B,B)",-1.67(N),-0.9600(T),,chr7,102389833,102389833,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly60Ala/c.179G>C|275|FAM185A|protein_coding|CODING|NM_001145269.1|1|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly60Ala/c.179G>C|392|FAM185A|protein_coding|CODING|NM_001145268.1|1|1),non_coding_exon_variant(MODIFIER|||n.435G>C||FAM185A||CODING|NR_026879.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,,,,,,,,0.848898(N),1.000(P),"-1.79,-1.79,-1.79(D,D,D)",0.0000(T),0.228,1.021255,4.01,2.15,-0.248000,0.032000,-0.255000,0.258000,0.002000,0.000000,1.214
missense_variant,FAM185A,MISSENSE,NM_001145268.1:p.Arg347Cys/c.1039C>T,Cgt/Tgt,MODERATE,COSM3762296(2),0.117812,0.0119,rs116082009,0.07(T),"0.001,0.001,0.0(B,B,B)",0(N),-1.0499(T),,chr7,102427889,102427889,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg347Cys/c.1039C>T|392|FAM185A|protein_coding|CODING|NM_001145268.1|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg230Cys/c.688C>T|275|FAM185A|protein_coding|CODING|NM_001145269.1|6|1),non_coding_exon_variant(MODIFIER|||n.1054C>T||FAM185A||CODING|NR_026879.1|7|1)",HepG2:H3K36me3,,,,0.091,0.1542,0.1948,,,,,,1.000(P),"0.89,0.93(T,T)",0.0000(T),0.061,2.052152,4.09,2.16,0.536000,0.883000,0.422000,0.863000,0.001000,0.000000,6.9447
synonymous_variant,FBXL13,SILENT,NM_145032.3:p.Ala623Ala/c.1869A>G,gcA/gcG,LOW,,0.523363,0.5744,rs10279449,,,,,,chr7,102462636,102462636,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala578Ala/c.1734A>G|690|FBXL13|protein_coding|CODING|NM_001111038.1|18|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala595Ala/c.1785A>G|707|FBXL13|protein_coding|CODING|NM_001287150.1|18|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala623Ala/c.1869A>G|735|FBXL13|protein_coding|CODING|NM_145032.3|19|1),non_coding_exon_variant(MODIFIER|||n.2133A>G||FBXL13||CODING|NR_105043.1|20|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.498,0.3602,0.3181,0.47,0.68,0.36,,,,,,,,,,,,,,,,
missense_variant,LRRC17,MISSENSE,NM_001031692.2:p.Gly187Ala/c.560G>C,gGg/gCg,MODERATE,,0.192492,0.2837,rs1057066,0.16(T),"0.998,0.999(D,D)",1.46(L),-1.2428(T),,chr7,102574920,102574920,G,C,het,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly187Ala/c.560G>C|441|LRRC17|protein_coding|CODING|NM_001031692.2|2|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly187Ala/c.560G>C|313|LRRC17|protein_coding|CODING|NM_005824.2|2|1),intron_variant(MODIFIER|||c.725-2540C>G|690|FBXL13|protein_coding|CODING|NM_001111038.1|8|1),intron_variant(MODIFIER|||c.725-2540C>G|707|FBXL13|protein_coding|CODING|NM_001287150.1|8|1),intron_variant(MODIFIER|||c.725-2540C>G|735|FBXL13|protein_coding|CODING|NM_145032.3|8|1),intron_variant(MODIFIER|||n.1066-2540C>G||FBXL13||CODING|NR_105043.1|9|1)","HSMM:H3K27ac,NH-A:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:H4K5ac,NH-A:H3K27ac,IMR90:H3K36me3,HSMM:H3K4me1",,,,0.229,0.1657,0.1014,0.13,0.17,0.11,,0.000031(D),0.000(P),"3.4,-2.57(T,D)",0.0002(T),0.437,4.138569,5.28,5.28,0.563000,2.617000,5.506000,0.860000,0.999000,1.000000,19.2694
missense_variant,FBXL13,MISSENSE,NM_145032.3:p.Ile74Met/c.222T>G,atT/atG,MODERATE,,0.966254,1,rs7805950,0.48(T),"0.001,0.0,0.001(B,B,B)",-1.1(N),-0.9725(T),,chr7,102668001,102668001,A,C,hom,"missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile74Met/c.222T>G|690|FBXL13|protein_coding|CODING|NM_001111038.1|5|1),missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile74Met/c.222T>G|707|FBXL13|protein_coding|CODING|NM_001287150.1|5|1),missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile74Met/c.222T>G|735|FBXL13|protein_coding|CODING|NM_145032.3|5|1),non_coding_exon_variant(MODIFIER|||n.563T>G||FBXL13||CODING|NR_105043.1|6|1)",,,,,1,0.9841,0.999,0.97,0.91,1.00,,0.001765(N),1.000(P),"0.98,0.98,0.98,0.98,0.98,0.98,0.98,0.98,0.98(T,T,T,T,T,T,T,T,T)",0.0000(T),0.141,-0.161796,4.05,-1.63,-2.067000,-0.591000,-0.444000,0.000000,0.000000,0.000000,1.2913
missense_variant,NAPEPLD,MISSENSE,NM_001122838.1:p.Asp389Asn/c.1165G>A,Gat/Aat,MODERATE,,0.863618,1,rs3181009,0.53(T),0.002(B),0.92(L),-0.9729(T),,chr7,102743893,102743893,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp389Asn/c.1165G>A|393|NAPEPLD|protein_coding|CODING|NM_001122838.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp389Asn/c.1165G>A|393|NAPEPLD|protein_coding|CODING|NM_198990.4|5|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9496,0.998,0.86,0.59,1.00,,0.660139(N),0.999(P),"1.41,1.41,1.41,1.41,1.37(T,T,T,T,T)",0.0000(T),0.083,1.893667,5.56,2.8,-0.136000,0.399000,1.663000,0.920000,0.007000,0.819000,9.1045
missense_variant,NAPEPLD,MISSENSE,NM_001122838.1:p.Ser152Ala/c.454T>G,Tct/Gct,MODERATE,,0.167931,0.2768,rs12540583,0.13(T),"0.012,0.002(B,B)",0.735(N),-1.0395(T),,chr7,102760511,102760511,A,C,het,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser152Ala/c.454T>G|393|NAPEPLD|protein_coding|CODING|NM_001122838.1|3|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser152Ala/c.454T>G|393|NAPEPLD|protein_coding|CODING|NM_198990.4|3|1)","K562:HDAC2,H1ESC:H3K36me3,K562:Max,K562:PolII,K562:H3K27ac,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,K562:FAIRE,HSMM:H3K36me3,K562:USF1,K562:Gata1,K562:Cmyc,IMR90:H3K36me3,K562:Gata2,K562:E2F6,K562:Cjun,K562:Yy1,K562:Sirt6,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1,K562:Jund",,,,0.2157,0.1844,0.0974,0.10,0.08,0.10,,0.179417(N),1.000(P),"-2.91,-2.91,-2.91,-2.91,-2.91(D,D,D,D,D)",0.0001(T),0.035,2.228637,5.93,-4.69,0.482000,-0.455000,1.650000,0.998000,0.065000,1.000000,2.2767
synonymous_variant,PSMC2,SILENT,NM_002803.3:p.Arg312Arg/c.934A>C,Aga/Cga,LOW,,0.966254,1,rs4520097,,,,,,chr7,103007949,103007949,A,C,hom,"synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg312Arg/c.934A>C|433|PSMC2|protein_coding|CODING|NM_002803.3|10|1),intron_variant(MODIFIER|||c.2041+9306T>G|685|SLC26A5|protein_coding|CODING|NM_206883.2|19|1),intron_variant(MODIFIER|||c.1515-14576T>G|516|SLC26A5|protein_coding|CODING|NM_206884.2|14|1),intron_variant(MODIFIER|||c.972-14576T>G|335|SLC26A5|protein_coding|CODING|NM_206885.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9841,0.999,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RELN,SILENT,NM_005045.3:p.Ala3358Ala/c.10074A>G,gcA/gcG,LOW,COSM4004228(1),0.231629,0.2659,rs1062831,,,,,,chr7,103124207,103124207,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala3358Ala/c.10074A>G|3460|RELN|protein_coding|CODING|NM_005045.3|62|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala3358Ala/c.10074A>G|3458|RELN|protein_coding|CODING|NM_173054.2|62|1),intron_variant(MODIFIER|||n.1366-20644T>C||LOC101927870||NON_CODING|NR_110141.1|2|1)","GM12878:H3K27me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,RCV000081221.3,,0.1922,0.147,0.0954,0.17,0.34,0.09,,,,,,,,,,,,,,,,
synonymous_variant,RELN,SILENT,NM_005045.3:p.His2682His/c.8046T>C,caT/caC,LOW,,0.648363,0.8353,rs2229864,,,,,,chr7,103155705,103155705,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His2682His/c.8046T>C|3460|RELN|protein_coding|CODING|NM_005045.3|50|1),synonymous_variant(LOW|SILENT|caT/caC|p.His2682His/c.8046T>C|3458|RELN|protein_coding|CODING|NM_173054.2|50|1),downstream_gene_variant(MODIFIER||1251|||LOC101927870||NON_CODING|NR_110141.1||1)",HepG2:H3K36me3,,RCV000081242.3,,0.6636,0.4496,0.3459,0.50,0.76,0.36,,,,,,,,,,,,,,,,
synonymous_variant,RELN,SILENT,NM_005045.3:p.Pro2629Pro/c.7887T>C,ccT/ccC,LOW,COSM3762300(1),0.17492,0.254,rs56345626,,,,,,chr7,103155864,103155864,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2629Pro/c.7887T>C|3460|RELN|protein_coding|CODING|NM_005045.3|50|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2629Pro/c.7887T>C|3458|RELN|protein_coding|CODING|NM_173054.2|50|1),downstream_gene_variant(MODIFIER||1410|||LOC101927870||NON_CODING|NR_110141.1||1)",HepG2:H3K36me3,,RCV000118171.2,,0.1554,0.1513,0.1849,0.17,0.13,0.19,,,,,,,,,,,,,,,,
missense_variant,RELN,MISSENSE,NM_005045.3:p.Leu997Val/c.2989C>G,Ctt/Gtt,MODERATE,COSM4004231(2),0.121006,0.1458,rs362691,0.55(T),"0.124,0.073(B,B)",0.345(N),-1.0010(T),,chr7,103251161,103251161,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu997Val/c.2989C>G|3460|RELN|protein_coding|CODING|NM_005045.3|22|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu997Val/c.2989C>G|3458|RELN|protein_coding|CODING|NM_173054.2|22|1)","K562:H3K36me3,HepG2:H3K36me3",,RCV000118147.2|RCV000127764.1,,0.1861,0.121,0.1054,0.10,0.08,0.10,,0.002827(N),0.996(P),"1.99,1.98,1.95(T,T,T)",0.0005(T),0.057,0.943780,6.17,4.36,0.655000,0.916000,4.021000,0.993000,0.062000,1.000000,12.0604
synonymous_variant,RELN,SILENT,NM_005045.3:p.Glu592Glu/c.1776A>G,gaA/gaG,LOW,,0.120407,0.1429,rs2072403,,,,,,chr7,103292224,103292224,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu592Glu/c.1776A>G|3460|RELN|protein_coding|CODING|NM_005045.3|15|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu592Glu/c.1776A>G|3458|RELN|protein_coding|CODING|NM_173054.2|15|1)","HUVEC:H3K27me3,K562:H3K36me3,HepG2:H3K36me3",,RCV000118143.2,,0.0337,0.111,0.0567,0.09,0.18,0.05,,,,,,,,,,,,,,,,
synonymous_variant,CDHR3,SILENT,NM_152750.4:p.Leu116Leu/c.348G>T,ctG/ctT,LOW,COSM4004236(2),0.458067,0.4901,rs193795,,,,,,chr7,105621512,105621512,G,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu28Leu/c.84G>T|797|CDHR3|protein_coding|CODING|NM_001301161.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu116Leu/c.348G>T|885|CDHR3|protein_coding|CODING|NM_152750.4|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3",,,,0.6104,0.562,0.4433,0.39,0.30,0.44,,,,,,,,,,,,,,,,
missense_variant,CDHR3,MISSENSE,NM_152750.4:p.Cys529Tyr/c.1586G>A,tGt/tAt,MODERATE,,0.184704,0.0704,rs6967330,1(T),"0.0,0.0(B,B)",-2.575(N),-1.0012(T),,chr7,105658451,105658451,G,A,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys441Tyr/c.1322G>A|797|CDHR3|protein_coding|CODING|NM_001301161.1|11|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys529Tyr/c.1586G>A|885|CDHR3|protein_coding|CODING|NM_152750.4|12|1)","HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,K562:H3K4me1,HMEC:H3K27me3,NHEK:H3K27me3,K562:DNase1",,,,0.2004,0.1427,0.2078,0.19,0.25,0.17,,0.049375(N),0.000(P),"0.85,0.85,0.85(T,T,T)",0.0000(T),0.082,-1.879772,5.66,4.39,-0.254000,0.986000,3.349000,0.057000,0.931000,1.000000,7.8022
synonymous_variant,CDHR3,SILENT,NM_152750.4:p.Asn624Asn/c.1872T>C,aaT/aaC,LOW,,0.175519,0.0813,rs10258293,,,,-0.9870(T),,chr7,105662690,105662690,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn536Asn/c.1608T>C|797|CDHR3|protein_coding|CODING|NM_001301161.1|13|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn624Asn/c.1872T>C|885|CDHR3|protein_coding|CODING|NM_152750.4|14|1)","CD4:CBP,CD4:H3K18ac,HUVEC:H3K27me3,CD4:H2BK5ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K27me3,CD4:H3K27ac,NHEK:H3K27me3,CD4:H3K36ac,CD4:H3K4ac,CD4:PolII,CD4:H3K4me2,CD4:H2BK120ac,CD4:p300,K562:DNase1,CD4:H2BK12ac",,,,0.2188,0.1311,0.2018,0.18,0.21,0.17,,,0.000(P),,0.0002(T),.,0.352602,5.23,-5.99,-0.699000,-1.794000,-1.882000,0.787000,0.002000,0.000000,18.9616
synonymous_variant,NAMPT,SILENT,NM_005746.2:p.Ser301Ser/c.903A>G,tcA/tcG,LOW,,0.704872,0.9008,rs2302559,,,,,,chr7,105903904,105903904,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser301Ser/c.903A>G|491|NAMPT|protein_coding|CODING|NM_005746.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6656,0.7752,0.6759,0.60,0.57,0.63,,,,,,,,,,,,,,,,
synonymous_variant,PIK3CG,SILENT,NM_001282426.1:p.Pro324Pro/c.972A>G,ccA/ccG,LOW,,0.939497,0.995,rs849389,,,,,,chr7,106508978,106508978,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro324Pro/c.972A>G|1102|PIK3CG|protein_coding|CODING|NM_001282426.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro324Pro/c.972A>G|1102|PIK3CG|protein_coding|CODING|NM_001282427.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro324Pro/c.972A>G|1102|PIK3CG|protein_coding|CODING|NM_002649.3|2|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9591,0.9582,0.9553,0.92,0.86,0.95,,,,,,,,,,,,,,,,
synonymous_variant,PIK3CG,SILENT,NM_001282426.1:p.Asp327Asp/c.981T>C,gaT/gaC,LOW,,0.940895,0.997,rs849390,,,,,,chr7,106508987,106508987,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp327Asp/c.981T>C|1102|PIK3CG|protein_coding|CODING|NM_001282426.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp327Asp/c.981T>C|1102|PIK3CG|protein_coding|CODING|NM_001282427.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp327Asp/c.981T>C|1102|PIK3CG|protein_coding|CODING|NM_002649.3|2|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9611,0.9597,0.9563,0.92,0.86,0.95,,,,,,,,,,,,,,,,
synonymous_variant,PRKAR2B,SILENT,NM_002736.2:p.Thr409Thr/c.1227G>A,acG/acA,LOW,COSM4004238(1),0.469649,0.4514,rs257376,,,,,,chr7,106799997,106799997,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr409Thr/c.1227G>A|418|PRKAR2B|protein_coding|CODING|NM_002736.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3",,,,0.3701,0.4597,0.5408,0.52,0.50,0.54,,,,,,,,,,,,,,,,
missense_variant,COG5,MISSENSE,NM_006348.3:p.Phe330Leu/c.988T>C,Ttc/Ctc,MODERATE,COSM150370(1),0.648363,0.6429,rs2269970,1(T),"0.0,0.0(B,B)",-2.945(N),-0.9540(T),,chr7,107002806,107002806,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe330Leu/c.988T>C|823|COG5|protein_coding|CODING|NM_001161520.1|9|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe330Leu/c.988T>C|860|COG5|protein_coding|CODING|NM_006348.3|9|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe330Leu/c.988T>C|839|COG5|protein_coding|CODING|NM_181733.2|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000081393.1,,0.4162,0.5058,0.5417,0.65,0.90,0.53,,0.000000(N),0.996(P),"1.67,1.67,1.67(T,T,T)",0.0000(T),0.121,0.716216,5.69,4.8,-0.119000,0.865000,6.030000,0.445000,0.729000,1.000000,13.0763
synonymous_variant,SLC26A3,SILENT,NM_000111.2:p.Leu651Leu/c.1953T>C,ctT/ctC,LOW,,0.998003,0.999,rs41669,,,,,,chr7,107414419,107414419,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu651Leu/c.1953T>C|764|SLC26A3|protein_coding|CODING|NM_000111.2|17|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.999,0.9986,0.993,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,SLC26A3,SILENT,NM_000111.2:p.Ala433Ala/c.1299G>A,gcG/gcA,LOW,COSM1447170(2),0.150958,0.2758,rs3735605,,,,,,chr7,107423254,107423254,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala433Ala/c.1299G>A|764|SLC26A3|protein_coding|CODING|NM_000111.2|11|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.137,0.1369,0.175,0.14,0.07,0.18,,,,,,,,,,,,,,,,
synonymous_variant,LAMB4,SILENT,NM_007356.2:p.Tyr442Tyr/c.1326C>T,taC/taT,LOW,,0.30651,0.2649,rs1735499,,,,,,chr7,107738882,107738882,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr442Tyr/c.1326C>T|1761|LAMB4|protein_coding|CODING|NM_007356.2|11|1),HepG2:H3K27me3,,,,0.3149,0.3689,0.3767,0.35,0.27,0.39,,,,,,,,,,,,,,,,
synonymous_variant,LAMB4,SILENT,NM_007356.2:p.Ala420Ala/c.1260C>T,gcC/gcT,LOW,COSM4161710(1),0.305711,0.2609,rs451252,,,,,,chr7,107738948,107738948,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala420Ala/c.1260C>T|1761|LAMB4|protein_coding|CODING|NM_007356.2|11|1),HepG2:H3K27me3,,,,0.3149,0.3689,0.3767,0.35,0.27,0.39,,,,,,,,,,,,,,,,
synonymous_variant,LAMB4,SILENT,NM_007356.2:p.Asn335Asn/c.1005T>C,aaT/aaC,LOW,,0.302915,0.2639,rs402113,,,,,,chr7,107743664,107743664,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn335Asn/c.1005T>C|1761|LAMB4|protein_coding|CODING|NM_007356.2|10|1),"NHEK:H3K36me3,K562:H3K4me2,K562:H2AZ",,,,0.316,0.3674,0.3777,0.35,0.26,0.39,,,,,,,,,,,,,,,,
synonymous_variant,NRCAM,SILENT,NM_001037132.2:p.Ala735Ala/c.2205G>C,gcG/gcC,LOW,,0.689097,0.9554,rs401433,,,,,,chr7,107824889,107824889,C,G,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala735Ala/c.2205G>C|1304|NRCAM|protein_coding|CODING|NM_001037132.2|18|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala735Ala/c.2205G>C|1211|NRCAM|protein_coding|CODING|NM_001193582.1|21|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala716Ala/c.2148G>C|1192|NRCAM|protein_coding|CODING|NM_001193583.1|20|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala716Ala/c.2148G>C|1180|NRCAM|protein_coding|CODING|NM_001193584.1|20|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala719Ala/c.2157G>C|1183|NRCAM|protein_coding|CODING|NM_005010.4|19|1)",HUVEC:H3K36me3,,,,0.7209,0.7983,0.7644,0.66,0.44,0.77,,,,,,,,,,,,,,,,
missense_variant,NRCAM,MISSENSE,NM_001037132.2:p.Pro545Ala/c.1633C>G,Cct/Gct,MODERATE,COSM4161716(1),0.698882,0.8839,rs6958498,0.45(T),"0.086,0.278,0.305,0.139,0.013(B,B,B,B,B)",1.19(L),-1.0973(T),,chr7,107834613,107834613,G,C,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro545Ala/c.1633C>G|1304|NRCAM|protein_coding|CODING|NM_001037132.2|14|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro545Ala/c.1633C>G|1211|NRCAM|protein_coding|CODING|NM_001193582.1|17|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro526Ala/c.1576C>G|1192|NRCAM|protein_coding|CODING|NM_001193583.1|16|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro526Ala/c.1576C>G|1180|NRCAM|protein_coding|CODING|NM_001193584.1|16|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro539Ala/c.1615C>G|1183|NRCAM|protein_coding|CODING|NM_005010.4|16|1),splice_region_variant(LOW|||c.1633C>G|1304|NRCAM|protein_coding|CODING|NM_001037132.2|14|1),splice_region_variant(LOW|||c.1633C>G|1211|NRCAM|protein_coding|CODING|NM_001193582.1|17|1),splice_region_variant(LOW|||c.1576C>G|1192|NRCAM|protein_coding|CODING|NM_001193583.1|16|1),splice_region_variant(LOW|||c.1576C>G|1180|NRCAM|protein_coding|CODING|NM_001193584.1|16|1),splice_region_variant(LOW|||c.1615C>G|1183|NRCAM|protein_coding|CODING|NM_005010.4|16|1)","HeLa-S3:DNase1,HUVEC:H3K36me3,K562:DNase1",,,,0.681,0.8012,0.7992,0.69,0.51,0.78,,0.000000(N),0.000(P),"1.48,1.48,1.48,1.48,1.48,1.48(T,T,T,T,T,T)",0.0000(T),0.246,2.438335,5.7,4.82,0.655000,1.381000,7.583000,0.965000,1.000000,1.000000,16.7949
synonymous_variant,NRCAM,SILENT,NM_001037132.2:p.Ala534Ala/c.1602G>A,gcG/gcA,LOW,,0.697684,0.88,rs404287,,,,,,chr7,107834734,107834734,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala534Ala/c.1602G>A|1304|NRCAM|protein_coding|CODING|NM_001037132.2|13|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala534Ala/c.1602G>A|1211|NRCAM|protein_coding|CODING|NM_001193582.1|16|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala515Ala/c.1545G>A|1192|NRCAM|protein_coding|CODING|NM_001193583.1|15|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala515Ala/c.1545G>A|1180|NRCAM|protein_coding|CODING|NM_001193584.1|15|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala528Ala/c.1584G>A|1183|NRCAM|protein_coding|CODING|NM_005010.4|15|1)",HUVEC:H3K36me3,,,,0.68,0.8012,0.7992,0.69,0.51,0.78,,,,,,,,,,,,,,,,
synonymous_variant,NRCAM,SILENT,NM_001037132.2:p.Val429Val/c.1287C>A,gtC/gtA,LOW,COSM4161722(1),0.661342,0.88,rs381318,,,,,,chr7,107838464,107838464,G,T,het,"synonymous_variant(LOW|SILENT|gtC/gtA|p.Val429Val/c.1287C>A|1304|NRCAM|protein_coding|CODING|NM_001037132.2|11|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val429Val/c.1287C>A|1211|NRCAM|protein_coding|CODING|NM_001193582.1|14|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val410Val/c.1230C>A|1192|NRCAM|protein_coding|CODING|NM_001193583.1|13|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val410Val/c.1230C>A|1180|NRCAM|protein_coding|CODING|NM_001193584.1|13|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val423Val/c.1269C>A|1183|NRCAM|protein_coding|CODING|NM_005010.4|13|1)",,,,,0.6483,0.7666,0.7416,0.63,0.44,0.72,,,,,,,,,,,,,,,,
synonymous_variant,NRCAM,SILENT,NM_001037132.2:p.Asn344Asn/c.1032C>T,aaC/aaT,LOW,,0.584864,0.8155,rs1269621,,,,,,chr7,107849908,107849908,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn344Asn/c.1032C>T|1304|NRCAM|protein_coding|CODING|NM_001037132.2|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn344Asn/c.1032C>T|1211|NRCAM|protein_coding|CODING|NM_001193582.1|12|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn325Asn/c.975C>T|1192|NRCAM|protein_coding|CODING|NM_001193583.1|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn325Asn/c.975C>T|1180|NRCAM|protein_coding|CODING|NM_001193584.1|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn338Asn/c.1014C>T|1183|NRCAM|protein_coding|CODING|NM_005010.4|11|1)",,,,,0.4703,0.6066,0.508,0.52,0.55,0.51,,,,,,,,,,,,,,,,
synonymous_variant,DNAJB9,SILENT,NM_012328.2:p.Pro61Pro/c.183G>A,ccG/ccA,LOW,COSM4161724(1),0.478435,0.6369,rs1043615,,,,,,chr7,108212353,108212353,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro61Pro/c.183G>A|223|DNAJB9|protein_coding|CODING|NM_012328.2|2|1),"H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2",,,,0.5102,0.5836,0.497,0.45,0.30,0.53,,,,,,,,,,,,,,,,
missense_variant,DOCK4,MISSENSE,NM_014705.3:p.Pro1917Leu/c.5750C>T,cCt/cTt,MODERATE,,0.00139776,0,rs199706346,,,1.79(L),-0.8673(T),,chr7,111368481,111368481,G,A,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1917Leu/c.5750C>T|1966|DOCK4|protein_coding|CODING|NM_014705.3|52|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0,0.007,0.00,0.00,0.01,,,1.000(D),,0.1427(T),.,5.537331,5.59,5.59,0.655000,2.640000,7.216000,0.997000,1.000000,1.000000,19.5919
missense_variant,ZNF277,MISSENSE,NM_021994.2:p.Val364Met/c.1090G>A,Gtg/Atg,MODERATE,,0.0455272,0.0248,rs11539696,0.11(T),0.123(B),0(N),-1.0518(T),,chr7,111981007,111981007,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val364Met/c.1090G>A|450|ZNF277|protein_coding|CODING|NM_021994.2|11|1),"NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.0331,0.0726,0.06,0.04,0.07,,0.640143(N),1.000(P),0.93(T),0.0036(T),0.035,1.725045,6.03,-0.106,-0.378000,0.057000,0.676000,0.915000,0.000000,0.825000,4.44
synonymous_variant,IFRD1,SILENT,NM_001007245.2:p.Ser276Ser/c.828T>G,tcT/tcG,LOW,,0.236821,0.1915,rs2253962,,,,,,chr7,112102355,112102355,T,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser276Ser/c.828T>G|451|IFRD1|protein_coding|CODING|NM_001007245.2|9|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser226Ser/c.678T>G|401|IFRD1|protein_coding|CODING|NM_001197079.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser226Ser/c.678T>G|401|IFRD1|protein_coding|CODING|NM_001197080.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser276Ser/c.828T>G|451|IFRD1|protein_coding|CODING|NM_001550.3|8|1),non_coding_exon_variant(MODIFIER|||n.851T>G||IFRD1||CODING|NR_120333.1|7|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.1994,0.1571,0.2535,0.27,0.32,0.25,,,,,,,,,,,,,,,,
synonymous_variant,IFRD1,SILENT,NM_001007245.2:p.Arg349Arg/c.1047G>A,cgG/cgA,LOW,,0.246206,0.1915,rs2074796,,,,,,chr7,112112279,112112279,G,A,hom,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg349Arg/c.1047G>A|451|IFRD1|protein_coding|CODING|NM_001007245.2|11|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg299Arg/c.897G>A|401|IFRD1|protein_coding|CODING|NM_001197079.1|10|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg299Arg/c.897G>A|401|IFRD1|protein_coding|CODING|NM_001197080.1|10|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg349Arg/c.1047G>A|451|IFRD1|protein_coding|CODING|NM_001550.3|10|1),non_coding_exon_variant(MODIFIER|||n.1070G>A||IFRD1||CODING|NR_120333.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.1614,0.2525,0.28,0.34,0.25,,,,,,,,,,,,,,,,
synonymous_variant,GPR85,SILENT,NM_001146265.1:p.Tyr120Tyr/c.360T>C,taT/taC,LOW,,0.911741,0.9722,rs2256044,,,,,,chr7,112724417,112724417,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr120Tyr/c.360T>C|370|GPR85|protein_coding|CODING|NM_001146265.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr120Tyr/c.360T>C|370|GPR85|protein_coding|CODING|NM_001146266.1|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr120Tyr/c.360T>C|370|GPR85|protein_coding|CODING|NM_001146267.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr120Tyr/c.360T>C|370|GPR85|protein_coding|CODING|NM_018970.6|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K4me1,H1ESC:H3K27me3,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.8333,0.928,0.8847,0.90,0.92,0.89,,,,,,,,,,,,,,,,
synonymous_variant,GPR85,SILENT,NM_001146265.1:p.Gly84Gly/c.252T>C,ggT/ggC,LOW,,0.898363,0.9732,rs1608890,,,,,,chr7,112724525,112724525,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly84Gly/c.252T>C|370|GPR85|protein_coding|CODING|NM_001146265.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly84Gly/c.252T>C|370|GPR85|protein_coding|CODING|NM_001146266.1|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly84Gly/c.252T>C|370|GPR85|protein_coding|CODING|NM_001146267.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly84Gly/c.252T>C|370|GPR85|protein_coding|CODING|NM_018970.6|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K4me1,H1ESC:H3K27me3,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.8333,0.928,0.8847,0.89,0.89,0.89,,,,,,,,,,,,,,,,
missense_variant,PPP1R3A,MISSENSE,NM_002711.3:p.Leu882His/c.2645T>A,cTt/cAt,MODERATE,,0.969848,0.999,rs2974938,0.31(T),0.001(B),-0.55(N),-1.0346(T),,chr7,113518502,113518502,A,T,hom,missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu882His/c.2645T>A|1122|PPP1R3A|protein_coding|CODING|NM_002711.3|4|1),,,,,0.999,0.9856,0.992,0.97,0.91,1.00,,0.874017(N),1.000(P),2.35(T),0.0000(T),0.051,-1.290617,5.81,-3.98,-0.997000,-0.444000,-2.138000,0.068000,0.014000,0.000000,2.1783
missense_variant,PPP1R3A,MISSENSE,NM_002711.3:p.Asn476Lys/c.1428T>A,aaT/aaA,MODERATE,,0.996406,1,rs2974944,1(T),0.0(B),-0.895(N),-0.9805(T),,chr7,113519719,113519719,A,T,hom,missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn476Lys/c.1428T>A|1122|PPP1R3A|protein_coding|CODING|NM_002711.3|4|1),,,,,1,1,0.999,1.00,0.99,1.00,,0.189757(N),1.000(P),"2.6,1.76(T,T)",0.0000(T),0.004,-2.095428,5.49,1.78,-1.014000,-0.061000,0.456000,0.001000,0.000000,0.001000,1.659
missense_variant,PPP1R3A,MISSENSE,NM_002711.3:p.Val451Met/c.1351G>A,Gtg/Atg,MODERATE,,0.970048,0.999,rs2974942,0.35(T),0.004(B),1.01(L),-0.9912(T),,chr7,113519796,113519796,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val451Met/c.1351G>A|1122|PPP1R3A|protein_coding|CODING|NM_002711.3|4|1),,,,,1,0.987,0.996,0.97,0.92,1.00,,0.565123(N),1.000(P),"2.18,1.19(T,T)",0.0000(T),0.023,0.688552,5.77,1.02,-1.197000,-0.012000,-0.247000,0.005000,0.002000,0.000000,4.3399
synonymous_variant,MDFIC,SILENT,NM_199072.4:p.Ala194Ala/c.582C>A,gcC/gcA,LOW,,0.985823,1,rs2594449,,,,,,chr7,114619598,114619598,C,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala85Ala/c.255C>A|246|MDFIC|protein_coding|CODING|NM_001166345.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala194Ala/c.582C>A|355|MDFIC|protein_coding|CODING|NM_199072.4|4|1|WARNING_TRANSCRIPT_NO_START_CODON)","HeLa-S3:DNase1,GM12878:H3K36me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,1,0.9957,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TES,SILENT,NM_015641.3:p.Arg374Arg/c.1122G>C,cgG/cgC,LOW,,0.398962,0.5694,rs4710,,,,,,chr7,115897392,115897392,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg374Arg/c.1122G>C|421|TES|protein_coding|CODING|NM_015641.3|7|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg365Arg/c.1095G>C|412|TES|protein_coding|CODING|NM_152829.2|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3415,0.3631,0.2952,0.31,0.40,0.26,,,,,,,,,,,,,,,,
missense_variant,CAV2,MISSENSE,NM_001233.4:p.Gln130Glu/c.388C>G,Cag/Gag,MODERATE,,0.140974,0.0089,rs8940,0(D),0.896(P),,-0.9798(T),,chr7,116146074,116146074,C,G,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln117Glu/c.349C>G|149|CAV2|protein_coding|CODING|NM_001206747.1|3|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln47Glu/c.139C>G|79|CAV2|protein_coding|CODING|NM_001206748.1|2|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln130Glu/c.388C>G|162|CAV2|protein_coding|CODING|NM_001233.4|3|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala67Gly/c.200C>G|112|CAV2|protein_coding|CODING|NM_198212.2|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,NHEK:DNase1",,,,0.1779,0.1499,0.164,0.19,0.19,0.19,,,0.000(P),,0.0043(T),.,4.645540,5.87,5.87,0.655000,2.941000,4.355000,0.997000,1.000000,1.000000,20.5827
synonymous_variant,MET,SILENT,NM_001127500.1:p.Asp1304Asp/c.3912C>T,gaC/gaT,LOW,COSM150377(2),0.352236,0.4673,rs41736,,,,,,chr7,116435768,116435768,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1286Asp/c.3858C>T|1390|MET|protein_coding|CODING|NM_000245.2|20|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1304Asp/c.3912C>T|1408|MET|protein_coding|CODING|NM_001127500.1|20|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3",,RCV000079492.1,,0.4928,0.464,0.4414,0.32,0.10,0.42,,,,,,,,,,,,,,,,
synonymous_variant,MET,SILENT,NM_001127500.1:p.Ala1357Ala/c.4071G>A,gcG/gcA,LOW,COSM150378(2),0.353834,0.4673,rs2023748,,,,,,chr7,116436022,116436022,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1339Ala/c.4017G>A|1390|MET|protein_coding|CODING|NM_000245.2|21|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1357Ala/c.4071G>A|1408|MET|protein_coding|CODING|NM_001127500.1|21|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3",,RCV000079493.1,,0.4949,0.4697,0.4433,0.32,0.10,0.43,,,,,,,,,,,,,,,,
synonymous_variant,MET,SILENT,NM_001127500.1:p.Pro1382Pro/c.4146G>A,ccG/ccA,LOW,COSM150379(2),0.354633,0.4673,rs41737,,,,,,chr7,116436097,116436097,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1364Pro/c.4092G>A|1390|MET|protein_coding|CODING|NM_000245.2|21|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1382Pro/c.4146G>A|1408|MET|protein_coding|CODING|NM_001127500.1|21|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3",,RCV000079494.1,,0.4949,0.4726,0.4433,0.32,0.10,0.43,,,,,,,,,,,,,,,,
synonymous_variant,CAPZA2,SILENT,NM_006136.2:p.Phe33Phe/c.99C>T,ttC/ttT,LOW,,0.323482,0.3948,rs4808,0(D),,,-1.0039(T),,chr7,116528240,116528240,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe33Phe/c.99C>T|286|CAPZA2|protein_coding|CODING|NM_006136.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2628,0.3098,0.2346,0.28,0.37,0.23,,,0.000(P),,0.0000(T),.,1.762539,5.86,3.5,-0.346000,0.143000,1.798000,0.886000,1.000000,1.000000,9.1722
missense_variant,ASZ1,MISSENSE,NM_130768.2:p.Phe282Leu/c.844T>C,Ttt/Ctt,MODERATE,,,,,0.33(T),"0.998,0.998(D,D)",1.435(L),0.3085(D),,chr7,117022167,117022167,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe282Leu/c.844T>C|475|ASZ1|protein_coding|CODING|NM_130768.2|8|1),non_coding_exon_variant(MODIFIER|||n.907T>C||ASZ1||CODING|NR_023315.1|8|1)",,,,,,,,,,,,0.000001(D),0.999(D),-2.14(D),0.6989(D),0.475,3.664564,5.35,5.35,0.482000,2.025000,6.242000,0.994000,1.000000,1.000000,14.3269
missense_variant,CFTR,MISSENSE,NM_000492.3:p.Asn417Lys/c.1251C>A,aaC/aaA,MODERATE,COSM4161731(3),,,rs4727853,0.99(T),0.002(B),0.41(N),-0.6137(T),,chr7,117188736,117188736,C,A,het,missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn417Lys/c.1251C>A|1480|CFTR|protein_coding|CODING|NM_000492.3|10|1),,,,,,,,,,,,0.045219(N),1.000(N),"-2.9,-2.95(D,D)",0.4422(T),0.434,-1.229423,4.85,-4.06,0.650000,-0.646000,-0.031000,0.040000,0.000000,0.247000,12.8714
synonymous_variant,TSPAN12,SILENT,NM_012338.3:p.Pro255Pro/c.765G>T,ccG/ccT,LOW,,0.851438,0.9593,rs41623,,,,,,chr7,120428799,120428799,C,A,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro255Pro/c.765G>T|305|TSPAN12|protein_coding|CODING|NM_012338.3|8|1),"GM12878:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.9223,0.8559,0.7584,0.77,0.79,0.77,,,,,,,,,,,,,,,,
synonymous_variant,ING3,SILENT,NM_019071.2:p.Asp356Asp/c.1068C>T,gaC/gaT,LOW,,0.139577,0.0337,rs2525725,,,,,,chr7,120610901,120610901,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp356Asp/c.1068C>T|418|ING3|protein_coding|CODING|NM_019071.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0971,0.1095,0.2127,0.20,0.21,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CPED1,SILENT,NM_024913.4:p.Thr291Thr/c.873G>T,acG/acT,LOW,,0.774161,0.9633,rs798937,,,,,,chr7,120740103,120740103,G,T,hom,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr291Thr/c.873G>T|783|CPED1|protein_coding|CODING|NM_001105533.1|6|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr291Thr/c.873G>T|1026|CPED1|protein_coding|CODING|NM_024913.4|7|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.7239,0.8617,0.7992,0.75,0.65,0.80,,,,,,,,,,,,,,,,
missense_variant,CPED1,MISSENSE,NM_001105533.1:p.Asp774Asn/c.2320G>A,Gat/Aat,MODERATE,,0.355431,0.1409,rs10953934,0(D),"0.0,0.0(B,B)",0(N),-0.9477(T),,chr7,120901695,120901695,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp774Asn/c.2320G>A|783|CPED1|protein_coding|CODING|NM_001105533.1|18|1),intron_variant(MODIFIER|||c.2311-4586G>A|1026|CPED1|protein_coding|CODING|NM_024913.4|18|1)","K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3",,,,0.3466,0.2709,0.3857,0.42,0.49,0.39,,,1.000(P),"1.94,1.93(T,T)",0.0000(T),0.023,-0.846798,3.06,1.91,-0.254000,0.135000,-0.439000,0.002000,0.000000,0.000000,4.9187
missense_variant,WNT16,MISSENSE,NM_057168.1:p.Gly82Arg/c.244G>A,Ggg/Agg,MODERATE,COSM1599876(2),0.510383,0.1766,rs2908004,0.21(T),"0.001,0.001(B,B)",-1.435(N),-0.9382(T),,chr7,120969769,120969769,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly72Arg/c.214G>A|355|WNT16|protein_coding|CODING|NM_016087.2|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly82Arg/c.244G>A|365|WNT16|protein_coding|CODING|NM_057168.1|2|1)","NHEK:CTCF,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:CTCF,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,H1ESC:Rad21,IMR90:H3K4me3,H1ESC:CTCF",Bone_mineral_density,,,0.4376,0.4092,0.4433,0.58,0.84,0.46,,0.000179(N),1.000(P),"-0.88,-0.88(T,T)",0.0000(T),0.099,1.980316,4.87,-0.765,-1.126000,-0.608000,1.051000,0.855000,0.879000,0.413000,12.1566
missense_variant,WNT16,MISSENSE,NM_057168.1:p.Thr263Ile/c.788C>T,aCa/aTa,MODERATE,COSM3762343(1),0.502995,0.1716,rs2707466,0.29(T),"0.004,0.004(B,B)",0.705(N),-0.9929(T),,chr7,120979089,120979089,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr253Ile/c.758C>T|355|WNT16|protein_coding|CODING|NM_016087.2|4|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr263Ile/c.788C>T|365|WNT16|protein_coding|CODING|NM_057168.1|4|1)",GM06990:H3K36me3,Cortical_thickness,,,0.4387,0.4063,0.4404,0.58,0.82,0.46,,,1.000(P),"-1.0,-1.0(T,T)",0.0000(T),0.06,1.602926,5.51,2.66,-0.254000,0.021000,2.782000,0.979000,0.977000,1.000000,9.1866
missense_variant,PTPRZ1,MISSENSE,NM_002851.2:p.Gly1433Asp/c.4298G>A,gGt/gAt,MODERATE,,0.679712,0.6478,rs1147504,1(T),0.0(B),-1.87(N),-0.9868(T),,chr7,121653398,121653398,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly1433Asp/c.4298G>A|2315|PTPRZ1|protein_coding|CODING|NM_002851.2|12|1),intron_variant(MODIFIER|||c.2263+2035G>A|1455|PTPRZ1|protein_coding|CODING|NM_001206838.1|12|1),intron_variant(MODIFIER|||c.2263+2035G>A|1448|PTPRZ1|protein_coding|CODING|NM_001206839.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6697,0.5663,0.4672,0.64,0.87,0.52,,0.081258(N),0.000(P),1.17(T),0.0000(T),0.031,-0.216791,5.61,3.22,-0.269000,0.476000,1.465000,0.907000,0.927000,0.997000,5.9064
missense_variant,FEZF1,MISSENSE,NM_001024613.2:p.Ala124Ser/c.370G>T,Gca/Tca,MODERATE,,0.000199681,0.001,,0.07(T),"0.31,0.507(B,P)",1.1(L),-1.0669(T),,chr7,121944122,121944122,C,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala124Ser/c.370G>T|475|FEZF1|protein_coding|CODING|NM_001024613.2|1|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala124Ser/c.370G>T|425|FEZF1|protein_coding|CODING|NM_001160264.1|1|1),non_coding_exon_variant(MODIFIER|||n.411C>A||FEZF1-AS1||NON_CODING|NR_036484.1|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0,0,0,,,,,0.000000(D),0.705(D),"3.19,3.32,3.17(T,T,T)",0.0286(T),0.309,3.225632,4.56,4.56,0.484000,2.512000,2.571000,0.911000,1.000000,1.000000,16.8374
synonymous_variant,CADPS2,SILENT,NM_001167940.1:p.Leu252Leu/c.756G>A,ctG/ctA,LOW,COSM4004269(1),0.718051,0.7579,rs2251761,,,,,,chr7,122303321,122303321,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu252Leu/c.756G>A|1255|CADPS2|protein_coding|CODING|NM_001009571.3|3|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu252Leu/c.756G>A|1300|CADPS2|protein_coding|CODING|NM_001167940.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu252Leu/c.756G>A|1296|CADPS2|protein_coding|CODING|NM_017954.10|3|1)",,,,,0.7935,0.6585,0.7306,0.73,0.68,0.76,,,,,,,,,,,,,,,,
missense_variant,TAS2R16,MISSENSE,NM_016945.2:p.Arg222His/c.665G>A,cGc/cAc,MODERATE,COSM3762347(1),0.729233,0.5218,rs860170,1(T),0.0(B),-2.66(N),-1.0552(T),,chr7,122635024,122635024,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg222His/c.665G>A|291|TAS2R16|protein_coding|CODING|NM_016945.2|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.6616,0.7622,0.6859,0.75,0.90,0.68,,0.000275(N),1.000(P),6.06(T),0.0000(T),0.109,-0.911212,4.67,2.21,-0.254000,0.058000,1.247000,0.044000,0.138000,0.779000,3.9492
missense_variant,SLC13A1,MISSENSE,NM_022444.3:p.Asn174Ser/c.521A>G,aAc/aGc,MODERATE,COSM1582997(2),0.27496,0.3522,rs2140516,0.75(T),0.007(B),0.49(N),-0.9981(T),,chr7,122809234,122809234,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn174Ser/c.521A>G|595|SLC13A1|protein_coding|CODING|NM_022444.3|4|1),,,,,0.2362,0.1988,0.337,0.30,0.28,0.32,,0.703502(N),1.000(P),"-0.17,1.92(T,T)",0.0000(T),0.005,-0.351029,5.3,-4.68,-0.350000,-0.774000,-0.434000,0.090000,0.001000,0.000000,7.0619
synonymous_variant,IQUB,SILENT,NM_001282855.1:p.Ala720Ala/c.2160A>G,gcA/gcG,LOW,COSM150381(2),0.337061,0.3909,rs10234745,,,,,,chr7,123097468,123097468,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala720Ala/c.2160A>G|791|IQUB|protein_coding|CODING|NM_001282855.1|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala720Ala/c.2160A>G|791|IQUB|protein_coding|CODING|NM_178827.4|12|1),non_coding_exon_variant(MODIFIER|||n.2520A>G||IQUB||CODING|NR_104244.1|13|1),non_coding_exon_variant(MODIFIER|||n.2161A>G||IQUB||CODING|NR_104245.1|11|1)",,,,,0.2894,0.2781,0.2972,0.32,0.40,0.28,,,,,,,,,,,,,,,,
synonymous_variant,IQUB,SILENT,NM_001282855.1:p.Gln423Gln/c.1269A>G,caA/caG,LOW,,0.22524,0.3879,rs10500091,,,,,,chr7,123119990,123119990,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln423Gln/c.1269A>G|791|IQUB|protein_coding|CODING|NM_001282855.1|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln423Gln/c.1269A>G|791|IQUB|protein_coding|CODING|NM_178827.4|8|1),intron_variant(MODIFIER|||n.1412-10552A>G||IQUB||CODING|NR_104245.1|7|1),non_coding_exon_variant(MODIFIER|||n.1433A>G||IQUB||CODING|NR_104244.1|8|1)",,,,,0.2157,0.2478,0.2853,0.21,0.10,0.27,,,,,,,,,,,,,,,,
missense_variant,IQUB,MISSENSE,NM_001282855.1:p.Val126Met/c.376G>A,Gtg/Atg,MODERATE,COSM150382(5),0.267971,0.369,rs10255061,0.57(T),"0.001,0.003,0.001(B,B,B)",0.345(N),-0.9856(T),,chr7,123152019,123152019,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val126Met/c.376G>A|791|IQUB|protein_coding|CODING|NM_001282855.1|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val126Met/c.376G>A|791|IQUB|protein_coding|CODING|NM_178827.4|2|1),non_coding_exon_variant(MODIFIER|||n.540G>A||IQUB||CODING|NR_104244.1|2|1),non_coding_exon_variant(MODIFIER|||n.553G>A||IQUB||CODING|NR_104245.1|2|1)",,,,,0.2137,0.2637,0.2863,0.26,0.24,0.27,,0.366878(N),1.000(P),"0.97,0.97,0.97(T,T,T)",0.0000(T),0.041,0.749246,5.41,-4.47,-0.254000,-1.087000,-1.742000,0.001000,0.000000,0.000000,11.0952
synonymous_variant,IQUB,SILENT,NM_001282855.1:p.Glu120Glu/c.360A>G,gaA/gaG,LOW,COSM150383(3),0.324481,0.369,rs10270705,,,,,,chr7,123152035,123152035,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu120Glu/c.360A>G|791|IQUB|protein_coding|CODING|NM_001282855.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu120Glu/c.360A>G|791|IQUB|protein_coding|CODING|NM_178827.4|2|1),non_coding_exon_variant(MODIFIER|||n.524A>G||IQUB||CODING|NR_104244.1|2|1),non_coding_exon_variant(MODIFIER|||n.537A>G||IQUB||CODING|NR_104245.1|2|1)",,,,,0.226,0.2983,0.3728,0.35,0.36,0.34,,,,,,,,,,,,,,,,
missense_variant,ASB15,MISSENSE,NM_001290258.1:p.Pro57Leu/c.170C>T,cCt/cTt,MODERATE,COSM4004273(1),0.779353,0.7927,rs6962756,0.73(T),0.0(B),-0.695(N),-0.9647(T),,chr7,123256427,123256427,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro57Leu/c.170C>T|588|ASB15|protein_coding|CODING|NM_001290258.1|6|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro57Leu/c.170C>T|588|ASB15|protein_coding|CODING|NM_080928.4|4|1),intron_variant(MODIFIER|||n.387-973G>A||LOC102724555||NON_CODING|NR_111922.1|3|1)",IMR90:DNase1,,,,0.8303,0.6412,0.7664,0.79,0.82,0.77,,0.057501(N),0.998(P),"2.4,2.4,1.02,2.4,2.4,0.63,2.4(T,T,T,T,T,T,T)",0.0000(T),0.376,0.862144,5.94,5.94,-0.381000,1.075000,1.201000,0.991000,1.000000,0.997000,5.071
synonymous_variant,ASB15,SILENT,NM_001290258.1:p.Val211Val/c.633C>T,gtC/gtT,LOW,COSM3762348(3),0.469649,0.5446,rs11769381,,,,,,chr7,123264804,123264804,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val211Val/c.633C>T|588|ASB15|protein_coding|CODING|NM_001290258.1|8|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val211Val/c.633C>T|588|ASB15|protein_coding|CODING|NM_080928.4|6|1),intron_variant(MODIFIER|||n.62+146G>A||LOC102724555||NON_CODING|NR_111922.1|1|1)","NHEK:CTCF,CD4:DNase1,K562:CTCF,K562:FAIRE,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,H1ESC:Yy1,K562:Rad21,H1ESC:H3K9me3,K562:Yy1,CD4:CTCF,HepG2:CTCF,K562:H3K4me2,NHEK:DNase1,K562:H2AZ,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.6912,0.4193,0.4324,0.41,0.32,0.45,,,,,,,,,,,,,,,,
missense_variant,ASB15,MISSENSE,NM_001290258.1:p.Gly357Ala/c.1070G>C,gGc/gCc,MODERATE,COSM3762349(1),0.791733,0.8284,rs4731112,1(T),0.0(B),-3.225(N),-0.9029(T),,chr7,123269118,123269118,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly357Ala/c.1070G>C|588|ASB15|protein_coding|CODING|NM_001290258.1|10|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly357Ala/c.1070G>C|588|ASB15|protein_coding|CODING|NM_080928.4|8|1)",,,,,0.8364,0.7406,0.7078,0.72,0.80,0.68,,0.000000(N),0.975(P),"1.3,1.3,1.3,1.3,1.3(T,T,T,T,T)",0.0000(T),0.235,0.990777,6.17,6.17,-0.120000,1.643000,5.778000,0.902000,0.953000,1.000000,17.8655
synonymous_variant,LMOD2,SILENT,NM_207163.1:p.Glu100Glu/c.300A>G,gaA/gaG,LOW,COSM3762350(2),0.505391,0.5575,rs7809453,,,,,,chr7,123301940,123301940,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu100Glu/c.300A>G|547|LMOD2|protein_coding|CODING|NM_207163.1|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.7137,0.4337,0.4414,0.42,0.38,0.44,,,0.000(P),,,.,1.014926,4.99,2.15,-0.186000,-0.073000,0.254000,0.992000,0.996000,0.987000,4.7792
synonymous_variant,WASL,SILENT,NM_003941.3:p.Ser19Ser/c.57C>T,tcC/tcT,LOW,COSM3762351(2),0.477236,0.5565,rs1054706,,,,,,chr7,123388732,123388732,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser19Ser/c.57C>T|505|WASL|protein_coding|CODING|NM_003941.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.7137,0.428,0.4384,0.42,0.33,0.47,,,,,,,,,,,,,,,,
missense_variant,HYAL4,MISSENSE,NM_012269.2:p.Ala346Ser/c.1036G>T,Gca/Tca,MODERATE,,0.113618,0.001,rs6949082,1(T),"0.0,0.0(B,B)",-2.075(N),-0.9879(T),,chr7,123514896,123514896,G,T,het,missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala346Ser/c.1036G>T|481|HYAL4|protein_coding|CODING|NM_012269.2|4|1),,,,,0.1524,0.0994,0.1779,0.16,0.15,0.17,,0.000044(N),1.000(P),"2.05,2.05(T,T)",0.0000(T),0.028,-0.528098,6.06,4.89,-0.256000,0.508000,2.040000,0.879000,0.929000,0.998000,7.8202
synonymous_variant,SPAM1,SILENT,NM_003117.4:p.Lys194Lys/c.582G>A,aaG/aaA,LOW,COSM3762354(2),0.247005,0.3006,rs2285996,,,,,,chr7,123594206,123594206,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys194Lys/c.582G>A|509|SPAM1|protein_coding|CODING|NM_001174044.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys194Lys/c.582G>A|509|SPAM1|protein_coding|CODING|NM_001174045.1|4|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys194Lys/c.582G>A|509|SPAM1|protein_coding|CODING|NM_001174046.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys194Lys/c.582G>A|511|SPAM1|protein_coding|CODING|NM_003117.4|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys194Lys/c.582G>A|509|SPAM1|protein_coding|CODING|NM_153189.2|3|1)",,,,,0.2311,0.379,0.2753,0.24,0.16,0.28,,,,,,,,,,,,,,,,
synonymous_variant,GPR37,SILENT,NM_005302.3:p.Leu443Leu/c.1329G>C,ctG/ctC,LOW,COSM1131723(1),0.396765,0.5367,rs3735270,,,,,,chr7,124387092,124387092,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu443Leu/c.1329G>C|613|GPR37|protein_coding|CODING|NM_005302.3|2|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4458,0.4409,0.4632,0.40,0.24,0.48,,,,,,,,,,,,,,,,
synonymous_variant,GPR37,SILENT,NM_005302.3:p.Thr349Thr/c.1047T>C,acT/acC,LOW,,0.71865,0.998,rs724356,,,,,,chr7,124387374,124387374,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr349Thr/c.1047T>C|613|GPR37|protein_coding|CODING|NM_005302.3|2|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.8252,0.8242,0.7565,0.65,0.43,0.76,,,,,,,,,,,,,,,,
synonymous_variant,POT1,SILENT,NM_015450.2:p.Ala599Ala/c.1797A>G,gcA/gcG,LOW,,,,,,,,-1.0141(T),,chr7,124464124,124464124,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala468Ala/c.1404A>G|503|POT1|protein_coding|CODING|NM_001042594.1|18|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala599Ala/c.1797A>G|634|POT1|protein_coding|CODING|NM_015450.2|19|1),non_coding_exon_variant(MODIFIER|||n.2518A>G||POT1||CODING|NR_003102.1|20|1),non_coding_exon_variant(MODIFIER|||n.2309A>G||POT1||CODING|NR_003103.1|18|1),non_coding_exon_variant(MODIFIER|||n.2495A>G||POT1||CODING|NR_003104.1|20|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(D),,0.1370(T),.,0.993630,5.74,0.795,0.533000,0.115000,-1.476000,0.799000,0.997000,0.033000,4.2808
missense_variant,POT1,MISSENSE,NM_015450.2:p.Gly404Val/c.1211G>T,gGt/gTt,MODERATE,,0.00519169,0,rs35536751,0.09(T),0.002(B),1.39(L),-1.0196(T),,chr7,124481185,124481185,C,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly273Val/c.818G>T|503|POT1|protein_coding|CODING|NM_001042594.1|13|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly404Val/c.1211G>T|634|POT1|protein_coding|CODING|NM_015450.2|14|1),non_coding_exon_variant(MODIFIER|||n.1932G>T||POT1||CODING|NR_003102.1|15|1),non_coding_exon_variant(MODIFIER|||n.1812G>T||POT1||CODING|NR_003103.1|14|1),non_coding_exon_variant(MODIFIER|||n.1812G>T||POT1||CODING|NR_003104.1|14|1)",HSMM:H3K36me3,,,,0.0112,0.0058,0.0109,0.01,0.00,0.02,,0.715890(N),1.000(N),"1.01,1.01(T,T)",0.0397(T),0.122,0.832782,5.55,-1.51,0.655000,-0.162000,-0.021000,0.714000,0.007000,0.004000,5.4362
synonymous_variant,GRM8,SILENT,NM_000845.2:p.Ile488Ile/c.1464C>T,atC/atT,LOW,,0.00119808,0.001,rs386612544,,,,,,chr7,126249446,126249446,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile488Ile/c.1464C>T|908|GRM8|protein_coding|CODING|NM_000845.2|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile488Ile/c.1464C>T|908|GRM8|protein_coding|CODING|NM_001127323.1|8|1),non_coding_exon_variant(MODIFIER|||n.1846C>T||GRM8||CODING|NR_028041.1|8|1)",,,,,0,0.0058,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,GCC1,SILENT,NM_024523.5:p.Leu747Leu/c.2239C>T,Ctg/Ttg,LOW,COSM3762358(1),0.270966,0.7034,rs3735644,,,,,,chr7,127222157,127222157,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu747Leu/c.2239C>T|775|GCC1|protein_coding|CODING|NM_024523.5|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HSMM:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2689,0.2147,0.2127,0.15,0.05,0.20,,,,,,,,,,,,,,,,
synonymous_variant,GCC1,SILENT,NM_024523.5:p.Asp317Asp/c.951T>C,gaT/gaC,LOW,,0.306709,0.7034,rs3735642,,,,,,chr7,127224286,127224286,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp317Asp/c.951T>C|775|GCC1|protein_coding|CODING|NM_024523.5|1|1),"K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K36me3,HSMM:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.2689,0.2248,0.2147,0.18,0.16,0.20,,,,,,,,,,,,,,,,
missense_variant,FSCN3,MISSENSE,NM_020369.2:p.Glu177Val/c.530A>T,gAg/gTg,MODERATE,,,,rs368708094,0(D),"0.889,0.855(P,P)",1.79(L),-0.6438(T),,chr7,127235746,127235746,A,T,het,missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu177Val/c.530A>T|498|FSCN3|protein_coding|CODING|NM_020369.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,,,,0.00,0.00,0.00,,0.000258(D),0.998(D),"1.41,0.79(T,T)",0.2288(T),0.745,4.520065,5.44,5.44,0.528000,2.187000,5.681000,0.992000,1.000000,1.000000,12.1709
missense_variant,PAX4,MISSENSE,NM_006193.2:p.His321Pro/c.962A>C,cAc/cCc,MODERATE,,0.670527,0.3591,rs712701,0.24(T),"0.0,0.0(B,B)",1.15(L),-0.9663(T),,chr7,127251188,127251188,T,G,het,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His321Pro/c.962A>C|343|PAX4|protein_coding|CODING|NM_006193.2|9|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000117896.1,,0.7362,0.7608,0.7813,0.77,0.71,0.80,,,1.000(P),"-3.33,-3.2(D,D)",0.0000(T),0.052,-0.250560,4.74,-3.35,-0.352000,-1.287000,-1.288000,0.006000,0.000000,0.000000,2.7208
synonymous_variant,LRRC4,SILENT,NM_022143.4:p.Ser279Ser/c.837T>A,tcT/tcA,LOW,,0.352835,0.1984,rs3823994,,,,,,chr7,127669857,127669857,A,T,het,"synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser279Ser/c.837T>A|653|LRRC4|protein_coding|CODING|NM_022143.4|2|1),intron_variant(MODIFIER|||c.1779+38748A>T|910|SND1|protein_coding|CODING|NM_014390.2|16|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4448,0.4121,0.2744,0.31,0.41,0.26,,,,,,,,,,,,,,,,
synonymous_variant,SND1,SILENT,NM_014390.2:p.Thr688Thr/c.2064T>C,acT/acC,LOW,COSM4161764(1),0.672524,0.3294,rs322825,,,,,,chr7,127721507,127721507,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr688Thr/c.2064T>C|910|SND1|protein_coding|CODING|NM_014390.2|18|1),upstream_gene_variant(MODIFIER||406|||MIR593||NON_CODING|NR_030324.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6186,0.7089,0.663,0.75,0.91,0.67,,,,,,,,,,,,,,,,
missense_variant,PRRT4,MISSENSE,NM_001174164.1:p.Pro826Leu/c.2477C>T,cCg/cTg,MODERATE,COSM4161766(2),0.436302,0.3462,rs891215,0.1(T),0.038(B),0.69(N),-0.9733(T),,chr7,127991133,127991133,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro826Leu/c.2477C>T|899|PRRT4|protein_coding|CODING|NM_001174164.1|6|1),3_prime_UTR_variant(MODIFIER||153|c.*153C>T|429|PRRT4|protein_coding|CODING|NM_001114726.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5072,0.6153,0.667,,,,,,1.000(P),,0.0000(T),0.191,-0.416618,4.16,3.28,0.462000,1.112000,0.352000,0.948000,0.486000,0.000000,7.8142
synonymous_variant,PRRT4,SILENT,NM_001174164.1:p.Arg391Arg/c.1173G>C,cgG/cgC,LOW,COSM3749999(12),0.757388,0.5278,rs1651945,,,,,,chr7,127992437,127992437,C,G,hom,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg391Arg/c.1173G>C|899|PRRT4|protein_coding|CODING|NM_001174164.1|6|1),intron_variant(MODIFIER|||c.1107+66G>C|429|PRRT4|protein_coding|CODING|NM_001114726.2|5|1)","NHEK:CTCF,H1ESC:USF1,HUVEC:Max,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,NH-A:H3K27me3,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,H1ESC:Tcf12,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.8967,0.8098,0.9056,,,,,,,,,,,,,,,,,,,
synonymous_variant,IMPDH1,SILENT,NM_000883.3:p.Leu329Leu/c.987G>C,ctG/ctC,LOW,,0.130192,0.121,rs2288550,,,,,,chr7,128038555,128038555,C,G,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu329Leu/c.987G>C|599|IMPDH1|protein_coding|CODING|NM_000883.3|10|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu319Leu/c.957G>C|589|IMPDH1|protein_coding|CODING|NM_001102605.1|9|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu244Leu/c.732G>C|514|IMPDH1|protein_coding|CODING|NM_001142573.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu239Leu/c.717G>C|509|IMPDH1|protein_coding|CODING|NM_001142574.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu219Leu/c.657G>C|489|IMPDH1|protein_coding|CODING|NM_001142575.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu296Leu/c.888G>C|566|IMPDH1|protein_coding|CODING|NM_001142576.1|9|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu293Leu/c.879G>C|563|IMPDH1|protein_coding|CODING|NM_183243.2|8|1)","NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2127,0.1023,0.1789,0.14,0.08,0.17,,,,,,,,,,,,,,,,
missense_variant,METTL2B,MISSENSE,NM_018396.2:p.Val266Ile/c.796G>A,Gtt/Att,MODERATE,,0.974241,1,rs2562741,1(T),"0.003,0.002(B,B)",-0.98(N),-0.9846(T),,chr7,128133984,128133984,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val266Ile/c.796G>A|378|METTL2B|protein_coding|CODING|NM_018396.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.92,1.00,,0.008609(N),1.000(P),"2.44,2.44,2.44(T,T,T)",0.0000(T),0.02,-1.989338,3.16,-0.139,-1.298000,-0.563000,-0.522000,0.295000,0.800000,0.000000,7.4647
synonymous_variant,METTL2B,SILENT,NM_018396.2:p.Asn344Asn/c.1032T>C,aaT/aaC,LOW,COSM1447894(1),0.78095,0.7163,rs1053124,,,,,,chr7,128141865,128141865,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn344Asn/c.1032T>C|378|METTL2B|protein_coding|CODING|NM_018396.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8865,0.6859,0.8161,0.79,0.75,0.80,,,,,,,,,,,,,,,,
synonymous_variant,FAM71F1,SILENT,NM_032599.3:p.Leu147Leu/c.441C>A,ctC/ctA,LOW,,0.201278,0.1042,rs386610282,,,,,,chr7,128358891,128358891,C,A,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu147Leu/c.441C>A|342|FAM71F1|protein_coding|CODING|NM_001282788.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu147Leu/c.441C>A|344|FAM71F1|protein_coding|CODING|NM_032599.3|3|1),intron_variant(MODIFIER|||c.199-55C>A|243|FAM71F1|protein_coding|CODING|NM_001282789.1|3|1),intron_variant(MODIFIER|||n.485-55C>A||FAM71F1||CODING|NR_104243.1|3|1),non_coding_exon_variant(MODIFIER|||n.541C>A||FAM71F1||CODING|NR_104242.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2699,0.1571,0.2366,0.22,0.20,0.23,,,,,,,,,,,,,,,,
missense_variant,FAM71F1,MISSENSE,NM_032599.3:p.Glu242Lys/c.724G>A,Gag/Aag,MODERATE,,0.159545,0.1052,rs6971091,0.2(T),"0.541,0.892,0.374,0.207,0.469(P,P,B,B,P)",2.095(M),-1.1436(T),,chr7,128363287,128363287,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu242Lys/c.724G>A|342|FAM71F1|protein_coding|CODING|NM_001282788.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu143Lys/c.427G>A|243|FAM71F1|protein_coding|CODING|NM_001282789.1|5|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu242Lys/c.724G>A|344|FAM71F1|protein_coding|CODING|NM_032599.3|4|1),non_coding_exon_variant(MODIFIER|||n.824G>A||FAM71F1||CODING|NR_104242.1|4|1),non_coding_exon_variant(MODIFIER|||n.713G>A||FAM71F1||CODING|NR_104243.1|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.272,0.1628,0.2336,0.18,0.08,0.23,,0.000627(D),0.026(P),"1.39,2.87,1.61(T,T,T)",0.0001(T),0.22,3.748148,5.2,5.2,0.555000,2.868000,4.046000,0.944000,0.986000,0.997000,14.4309
missense_variant,CCDC136,MISSENSE,NM_022742.4:p.Gln1049Glu/c.3145C>G,Caa/Gaa,MODERATE,,0.993211,1,rs4728137,1(T),"0.0,0.0(B,B)",-1.67(N),-1.0249(T),,chr7,128455767,128455767,C,G,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1049Glu/c.3145C>G|1154|CCDC136|protein_coding|CODING|NM_022742.4|16|1),intron_variant(MODIFIER|||c.1204-2045C>G|434|CCDC136|protein_coding|CODING|NM_001201372.1|8|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K4me1,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,K562:PU1,HepG2:H3K27me3,K562:SP1",,,,1,0.9986,0.999,0.99,0.98,1.00,,0.816520(N),1.000(P),1.69(T),0.0000(T),0.178,-1.598184,4.91,0.915,-1.304000,0.035000,0.497000,0.003000,0.000000,0.005000,4.7886
synonymous_variant,FLNC,SILENT,NM_001458.4:p.Asp1468Asp/c.4404T>C,gaT/gaC,LOW,,0.990615,1,rs2249128,,,,,,chr7,128487866,128487866,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1468Asp/c.4404T>C|2692|FLNC|protein_coding|CODING|NM_001127487.1|25|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1468Asp/c.4404T>C|2725|FLNC|protein_coding|CODING|NM_001458.4|25|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,0.9957,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,LOC100130705,MISSENSE,NM_001195150.1:p.Trp29Arg/c.85T>C,Tgg/Cgg,MODERATE,,,,,,,,,,chr7,128506548,128506548,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp29Arg/c.85T>C|176|LOC100130705|protein_coding|CODING|NM_001195150.1|1|1),downstream_gene_variant(MODIFIER||645||147|ATP6V1F|protein_coding|CODING|NM_001198909.1||1),downstream_gene_variant(MODIFIER||645||119|ATP6V1F|protein_coding|CODING|NM_004231.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TNPO3,SILENT,NM_012470.3:p.Ala887Ala/c.2661C>T,gcC/gcT,LOW,COSM4004292(1),0.476837,0.4425,rs386615012,,,,,,chr7,128607384,128607384,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala823Ala/c.2469C>T|859|TNPO3|protein_coding|CODING|NM_001191028.2|20|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala887Ala/c.2661C>T|923|TNPO3|protein_coding|CODING|NM_012470.3|21|1),non_coding_exon_variant(MODIFIER|||n.3225C>T||TNPO3||CODING|NR_034053.2|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4949,0.366,0.5318,0.51,0.50,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TNPO3,SILENT,NM_012470.3:p.Leu253Leu/c.759C>G,ctC/ctG,LOW,COSM4161784(1),0.341853,0.3988,rs2305324,,,,,,chr7,128641226,128641226,G,C,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu253Leu/c.759C>G|859|TNPO3|protein_coding|CODING|NM_001191028.2|6|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu253Leu/c.759C>G|923|TNPO3|protein_coding|CODING|NM_012470.3|6|1),non_coding_exon_variant(MODIFIER|||n.1323C>G||TNPO3||CODING|NR_034053.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.454,0.3199,0.4801,0.37,0.18,0.47,,,,,,,,,,,,,,,,
synonymous_variant,SMO,SILENT,NM_005631.4:p.Gly388Gly/c.1164G>C,ggG/ggC,LOW,COSM4004294(1),0.75619,0.7718,rs2228617,,,,,,chr7,128846328,128846328,G,C,hom,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly388Gly/c.1164G>C|787|SMO|protein_coding|CODING|NM_005631.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7658,0.7896,0.8231,0.79,0.69,0.84,,,,,,,,,,,,,,,,
missense_variant,UBE2H,MISSENSE,NM_003344.3:p.Glu24Val/c.71A>T,gAg/gTg,MODERATE,,,,,0.01(D),"0.951,0.571(D,P)",1.615(L),0.0112(D),,chr7,129520794,129520794,T,A,het,"missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu24Val/c.71A>T|183|UBE2H|protein_coding|CODING|NM_003344.3|2|1),missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu24Val/c.71A>T|152|UBE2H|protein_coding|CODING|NM_182697.2|2|1),5_prime_UTR_variant(MODIFIER||22018|c.-140A>T|113|UBE2H|protein_coding|CODING|NM_001202498.1|2|1)","HUVEC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,0.000000(D),1.000(D),"-0.21,-0.8,-0.77(T,T,T)",0.4995(T),0.868,4.808857,6.17,6.17,0.533000,2.371000,7.338000,0.992000,1.000000,1.000000,14.7743
missense_variant,ZC3HC1,MISSENSE,NM_016478.4:p.Arg363His/c.1088G>A,cGt/cAt,MODERATE,COSM3762372(1),0.155751,0.0496,rs11556924,0.48(T),"0.959,0.959(D,D)",1.79(L),-0.9844(T),,chr7,129663496,129663496,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg342His/c.1025G>A|481|ZC3HC1|protein_coding|CODING|NM_001282190.1|9|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg363His/c.1088G>A|502|ZC3HC1|protein_coding|CODING|NM_016478.4|8|1),intron_variant(MODIFIER|||c.1020+607G>A|431|ZC3HC1|protein_coding|CODING|NM_001282191.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Coronary_heart_disease,,,0.1748,0.2089,0.3767,0.28,0.08,0.38,,0.000005(D),0.000(P),"1.25,1.28,0.71(T,T,T)",0.0000(T),0.287,4.497150,5.49,5.49,0.563000,2.590000,2.567000,0.725000,0.995000,0.994000,16.0957
missense_variant,ZC3HC1,MISSENSE,NM_016478.4:p.Thr271Ala/c.811A>G,Aca/Gca,MODERATE,COSM4161788(1),0.476038,0.6696,rs1464890,0.68(T),"0.013,0.014(B,B)",0.885(L),-0.9454(T),,chr7,129664312,129664312,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr250Ala/c.748A>G|481|ZC3HC1|protein_coding|CODING|NM_001282190.1|8|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr271Ala/c.811A>G|431|ZC3HC1|protein_coding|CODING|NM_001282191.1|7|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr271Ala/c.811A>G|502|ZC3HC1|protein_coding|CODING|NM_016478.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.5828,0.5648,0.6054,0.43,0.17,0.56,,0.000024(D),1.000(P),"1.01,1.01,1.01(T,T,T)",0.0000(T),0.086,0.735976,5.48,-0.152,0.460000,0.344000,-0.271000,0.193000,0.577000,0.114000,2.4402
synonymous_variant,TMEM209,SILENT,NM_032842.3:p.Leu462Leu/c.1386A>G,ttA/ttG,LOW,COSM4004295(1),0.303514,0.5546,rs3823482,,,,,,chr7,129813738,129813738,T,C,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu420Leu/c.1260A>G|519|TMEM209|protein_coding|CODING|NM_001301163.1|11|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu462Leu/c.1386A>G|561|TMEM209|protein_coding|CODING|NM_032842.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3446,0.2651,0.2604,0.21,0.15,0.23,,,,,,,,,,,,,,,,
synonymous_variant,CPA2,SILENT,NM_001869.2:p.Asp211Asp/c.633T>C,gaT/gaC,LOW,,0.692292,0.7887,rs17590,,,,,,chr7,129916515,129916515,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp211Asp/c.633T>C|419|CPA2|protein_coding|CODING|NM_001869.2|7|1),"NHEK:H3K27ac,HeLa-S3:DNase1,HUVEC:H3K27me3,HSMM:H3K27ac,NHEK:H3K4me1,GM12878:H3K36me3,HMEC:H3K27ac,HSMM:H3K4me1,K562:H3K27me3,NHEK:H3K4me2",,,,0.7014,0.67,0.6511,0.63,0.67,0.61,,,,,,,,,,,,,,,,
missense_variant,CPA4,MISSENSE,NM_016352.3:p.Leu27Phe/c.81G>T,ttG/ttT,MODERATE,,0.35603,0.3581,rs34587586,0.63(T),"0.219,0.023(B,B)",0.58(N),-0.8993(T),,chr7,129938598,129938598,G,T,het,"missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu27Phe/c.81G>T|388|CPA4|protein_coding|CODING|NM_001163446.1|2|1),missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu27Phe/c.81G>T|421|CPA4|protein_coding|CODING|NM_016352.3|2|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3701,0.3458,0.3877,0.38,0.34,0.40,,0.001446(N),0.000(P),"2.47,2.47,2.47,2.47(T,T,T,T)",0.0000(T),0.266,0.616383,5.61,4.47,-0.525000,0.512000,0.604000,0.970000,1.000000,1.000000,5.3961
missense_variant,CPA4,MISSENSE,NM_016352.3:p.Gly303Cys/c.907G>T,Ggc/Tgc,MODERATE,COSM3762374(2),0.316693,0.374,rs2171492,0.08(T),"0.095,0.021(B,B)",0.375(N),-0.8981(T),,chr7,129950740,129950740,G,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly270Cys/c.808G>T|388|CPA4|protein_coding|CODING|NM_001163446.1|8|1),missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly303Cys/c.907G>T|421|CPA4|protein_coding|CODING|NM_016352.3|9|1)","NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3589,0.3156,0.3638,0.33,0.23,0.38,,0.022720(N),1.000(P),"2.81,2.81,2.81(T,T,T)",0.0000(T),0.12,2.032247,6.17,0.479,-1.131000,-0.068000,0.552000,0.691000,0.992000,0.998000,11.7939
synonymous_variant,CPA4,SILENT,NM_016352.3:p.Ala370Ala/c.1110A>G,gcA/gcG,LOW,,0.973043,1,rs1569133,,,,,,chr7,129962360,129962360,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala337Ala/c.1011A>G|388|CPA4|protein_coding|CODING|NM_001163446.1|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala370Ala/c.1110A>G|421|CPA4|protein_coding|CODING|NM_016352.3|11|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.9942,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CPA5,SILENT,NM_080385.4:p.Thr4Thr/c.12C>T,acC/acT,LOW,,0.59345,0.5347,rs6973851,,,,,,chr7,129986338,129986338,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr4Thr/c.12C>T|403|CPA5|protein_coding|CODING|NM_001127442.1|2|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr4Thr/c.12C>T|436|CPA5|protein_coding|CODING|NM_080385.4|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr4Thr/c.12C>T|436|CPA5|protein_coding|CODING|NM_001127441.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3",,,,0.5521,0.6484,0.5845,0.60,0.64,0.58,,,,,,,,,,,,,,,,
synonymous_variant,CPA5,SILENT,NM_001127441.1:p.Ser87Ser/c.261T>C,tcT/tcC,LOW,COSM3762375(1),0.522963,0.5675,rs7808823,,,,,,chr7,129989878,129989878,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser87Ser/c.261T>C|436|CPA5|protein_coding|CODING|NM_001127441.1|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser87Ser/c.261T>C|403|CPA5|protein_coding|CODING|NM_001127442.1|4|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser87Ser/c.261T>C|436|CPA5|protein_coding|CODING|NM_080385.4|5|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4949,0.6311,0.5219,0.50,0.47,0.51,,,,,,,,,,,,,,,,
synonymous_variant,CPA5,SILENT,NM_001127441.1:p.Ile191Ile/c.573T>C,atT/atC,LOW,,0.754393,0.9752,rs1544705,,,,,,chr7,130002317,130002317,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile191Ile/c.573T>C|436|CPA5|protein_coding|CODING|NM_001127441.1|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile191Ile/c.573T>C|403|CPA5|protein_coding|CODING|NM_001127442.1|7|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile191Ile/c.573T>C|436|CPA5|protein_coding|CODING|NM_080385.4|8|1)","GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8818,0.826,0.71,0.46,0.83,,,,,,,,,,,,,,,,
synonymous_variant,KLF14,SILENT,NM_138693.3:p.Ser112Ser/c.336C>T,tcC/tcT,LOW,COSM3750001(18),0.385383,0.5397,rs76603546,,,,,,chr7,130418525,130418525,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser112Ser/c.336C>T|323|KLF14|protein_coding|CODING|NM_138693.3|1|1),"H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,K562:Rad21,IMR90:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,K562:DNase1",,,,0.4274,0.4697,0.498,0.36,0.17,0.46,,,,,,,,,,,,,,,,
missense_variant,KLF14,MISSENSE,NM_138693.3:p.His47Gln/c.141T>G,caT/caG,MODERATE,COSM4161801(2),1,1,rs111359117,0.52(T),0.004(B),0(N),-0.9160(T),,chr7,130418720,130418720,A,C,hom,missense_variant(MODERATE|MISSENSE|caT/caG|p.His47Gln/c.141T>G|323|KLF14|protein_coding|CODING|NM_138693.3|1|1),"H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,K562:Rad21,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:DNase1",,,,1,1,1,,,,,,1.000(P),3.31(T),0.0075(T),0.032,-0.134788,2.28,-0.911,-1.875000,-0.642000,-2.296000,0.050000,0.001000,0.000000,1.9167
synonymous_variant,PODXL,SILENT,NM_001018111.2:p.Ser77Ser/c.231G>A,tcG/tcA,LOW,,0.10024,0.0099,rs17744792,,,,,,chr7,131196062,131196062,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser77Ser/c.231G>A|558|PODXL|protein_coding|CODING|NM_001018111.2|2|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser77Ser/c.231G>A|526|PODXL|protein_coding|CODING|NM_005397.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,,,0.1391,0.1369,0.1849,0.14,0.08,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PLXNA4,SILENT,NM_020911.1:p.Asp1871Asp/c.5613T>C,gaT/gaC,LOW,,0.898962,0.9296,rs2671103,,,,,,chr7,131815310,131815310,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1871Asp/c.5613T>C|1894|PLXNA4|protein_coding|CODING|NM_020911.1|32|1),"HUVEC:H3K36me3,NH-A:DNase1,HeLa-S3:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.9376,0.9207,0.8688,0.86,0.87,0.86,,,,,,,,,,,,,,,,
synonymous_variant,PLXNA4,SILENT,NM_020911.1:p.Ala1243Ala/c.3729A>G,gcA/gcG,LOW,COSM1568623(2),0.782348,0.6329,rs3734989,,,,,,chr7,131864591,131864591,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1243Ala/c.3729A>G|1894|PLXNA4|protein_coding|CODING|NM_020911.1|20|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.8793,0.7305,0.6133,0.72,0.92,0.61,,,,,,,,,,,,,,,,
synonymous_variant,PLXNA4,SILENT,NM_020911.1:p.Leu386Leu/c.1158C>T,ctC/ctT,LOW,,0.393171,0.2708,rs156961,,,,,,chr7,132192295,132192295,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu386Leu/c.1158C>T|492|PLXNA4|protein_coding|CODING|NM_001105543.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu386Leu/c.1158C>T|1894|PLXNA4|protein_coding|CODING|NM_020911.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu386Leu/c.1158C>T|522|PLXNA4|protein_coding|CODING|NM_181775.3|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3793,0.3588,0.3917,0.42,0.48,0.39,,,,,,,,,,,,,,,,
synonymous_variant,PLXNA4,SILENT,NM_020911.1:p.Ser168Ser/c.504A>G,tcA/tcG,LOW,COSM4161808(1),0.393371,0.2718,rs156962,,,,,,chr7,132192949,132192949,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser168Ser/c.504A>G|492|PLXNA4|protein_coding|CODING|NM_001105543.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser168Ser/c.504A>G|1894|PLXNA4|protein_coding|CODING|NM_020911.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser168Ser/c.504A>G|522|PLXNA4|protein_coding|CODING|NM_181775.3|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3793,0.3588,0.3917,0.42,0.48,0.39,,,,,,,,,,,,,,,,
synonymous_variant,EXOC4,SILENT,NM_021807.3:p.Val610Val/c.1830G>A,gtG/gtA,LOW,COSM3762381(1),0.538139,0.4613,rs2042456,,,,,,chr7,133580447,133580447,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val610Val/c.1830G>A|974|EXOC4|protein_coding|CODING|NM_021807.3|12|1),"H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.6442,0.3184,0.4165,0.48,0.65,0.40,,,,,,,,,,,,,,,,
synonymous_variant,EXOC4,SILENT,NM_021807.3:p.Gln936Gln/c.2808G>A,caG/caA,LOW,COSM3762383(2),0.669129,0.7609,rs6953296,,,,,,chr7,133749164,133749164,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln936Gln/c.2808G>A|974|EXOC4|protein_coding|CODING|NM_021807.3|18|1),"K562:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.7622,0.6014,0.63,0.69,0.60,,,,,,,,,,,,,,,,
missense_variant,LRGUK,MISSENSE,NM_144648.1:p.Asp302Tyr/c.904G>T,Gac/Tac,MODERATE,COSM3736430(2),0.177516,0.3234,rs17167553,0.01(D),0.332(B),1.355(L),-0.9344(T),,chr7,133848257,133848257,G,T,het,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp302Tyr/c.904G>T|825|LRGUK|protein_coding|CODING|NM_144648.1|7|1),GM12878:H3K36me3,,,,0.1616,0.1599,0.0795,0.13,0.17,0.10,,0.455503(N),0.966(P),1.86(T),0.0000(T),0.127,3.250766,5.58,3.77,0.555000,1.349000,1.524000,0.995000,0.983000,0.045000,4.3821
synonymous_variant,LRGUK,SILENT,NM_144648.1:p.Ala412Ala/c.1236C>T,gcC/gcT,LOW,,0.993211,1,rs1222419,,,,,,chr7,133868507,133868507,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala412Ala/c.1236C>T|825|LRGUK|protein_coding|CODING|NM_144648.1|11|1),"HUVEC:H3K27me3,GM12878:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,LRGUK,MISSENSE,NM_144648.1:p.Ala661Val/c.1982C>T,gCg/gTg,MODERATE,,0.133986,0.3839,rs35149449,1(T),0.0(B),-1.15(N),-0.9189(T),,chr7,133906669,133906669,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala661Val/c.1982C>T|825|LRGUK|protein_coding|CODING|NM_144648.1|16|1),splice_region_variant(LOW|||c.1982C>T|825|LRGUK|protein_coding|CODING|NM_144648.1|16|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3",,,,0.1176,0.1297,0.0706,0.07,0.02,0.09,,0.162062(N),0.992(P),1.76(T),0.0000(T),0.035,-1.500426,5.68,0.667,-0.225000,0.044000,-0.101000,0.038000,0.826000,0.992000,7.6851
synonymous_variant,SLC35B4,SILENT,NM_032826.4:p.Thr262Thr/c.786A>G,acA/acG,LOW,COSM3762385(1),0.492612,0.2708,rs1421484,,,,,,chr7,133979795,133979795,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr262Thr/c.786A>G|331|SLC35B4|protein_coding|CODING|NM_032826.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.5793,0.4652,0.51,0.60,0.46,,,,,,,,,,,,,,,,
synonymous_variant,AKR1B10,SILENT,NM_020299.4:p.Leu25Leu/c.75T>C,ctT/ctC,LOW,COSM3762386(2),0.533147,0.4137,rs1722883,,,,,,chr7,134215403,134215403,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu25Leu/c.75T>C|316|AKR1B10|protein_coding|CODING|NM_020299.4|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.5133,0.3934,0.4503,0.55,0.74,0.46,,,,,,,,,,,,,,,,
missense_variant,AKR1B10,MISSENSE,NM_020299.4:p.Asn313Asp/c.937A>G,Aat/Gat,MODERATE,,0.969449,1,rs4728329,0.46(T),0.0(B),-0.15(N),-0.9028(T),,chr7,134225827,134225827,A,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn313Asp/c.937A>G|316|AKR1B10|protein_coding|CODING|NM_020299.4|10|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.9847,0.9323,0.9135,0.94,0.98,0.91,,0.402727(N),1.000(P),1.53(T),0.0000(T),0.025,-0.358050,3.22,-6.43,-2.620000,-6.665000,-6.453000,0.001000,0.000000,0.000000,1.8057
synonymous_variant,AKR1B15,SILENT,NM_001080538.2:p.Phe340Phe/c.1020C>T,ttC/ttT,LOW,COSM3762388(2),0.335663,0.1438,rs6467538,,,,,,chr7,134264286,134264286,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe340Phe/c.1020C>T|344|AKR1B15|protein_coding|CODING|NM_001080538.2|12|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2474,0.3084,0.339,0.40,0.51,0.34,,,,,,,,,,,,,,,,
missense_variant,CALD1,MISSENSE,NM_033138.3:p.His397Arg/c.1190A>G,cAt/cGt,MODERATE,COSM3762390(1),0.508387,0.8581,rs6973420,,0.0(B),0(N),-1.0119(T),,chr7,134618710,134618710,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His397Arg/c.1190A>G|793|CALD1|protein_coding|CODING|NM_033138.3|5|1),intron_variant(MODIFIER|||c.603+569A>G|558|CALD1|protein_coding|CODING|NM_033139.3|3|1),intron_variant(MODIFIER|||c.621+569A>G|563|CALD1|protein_coding|CODING|NM_033157.3|5|1),intron_variant(MODIFIER|||c.621+569A>G|538|CALD1|protein_coding|CODING|NM_004342.6|5|1),intron_variant(MODIFIER|||c.603+569A>G|532|CALD1|protein_coding|CODING|NM_033140.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:SP1",,,,0.3742,0.366,0.4821,0.45,0.44,0.45,,0.031867(N),1.000(P),1.63(T),0.0000(T),0.008,-1.287969,4.15,-4.5,-2.371000,-1.211000,-1.464000,0.002000,0.000000,0.000000,6.3213
missense_variant,AGBL3,MISSENSE,NM_178563.3:p.Glu122Gln/c.364G>C,Gaa/Caa,MODERATE,,0.910543,0.9901,rs4236655,0.53(T),0.113(B),0.55(N),-0.9170(T),,chr7,134701856,134701856,G,C,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu122Gln/c.364G>C|920|AGBL3|protein_coding|CODING|NM_178563.3|5|1),,,,,0.9857,0.9712,0.996,0.93,0.78,1.00,,0.016601(N),0.000(P),"2.0,2.0,2.0,0.82(T,T,T,T)",0.0000(T),0.534,2.833878,5.54,5.54,0.655000,2.619000,3.577000,0.947000,0.871000,0.998000,12.0081
synonymous_variant,AGBL3,SILENT,NM_178563.3:p.Leu403Leu/c.1209C>G,ctC/ctG,LOW,,0.909744,0.9901,rs9656447,,,,,,chr7,134719551,134719551,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu403Leu/c.1209C>G|920|AGBL3|protein_coding|CODING|NM_178563.3|7|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.9857,0.9712,0.996,0.93,0.77,1.00,,,,,,,,,,,,,,,,
missense_variant,TMEM140,MISSENSE,NM_018295.4:p.Phe29Leu/c.87T>A,ttT/ttA,MODERATE,,0.910942,0.9901,rs292501,1(T),0.016(B),1.67(L),-0.8568(T),,chr7,134849280,134849280,T,A,hom,"missense_variant(MODERATE|MISSENSE|ttT/ttA|p.Phe29Leu/c.87T>A|185|TMEM140|protein_coding|CODING|NM_018295.4|2|1),downstream_gene_variant(MODIFIER||1252||69|C7orf49|protein_coding|CODING|NM_001243749.1||1),downstream_gene_variant(MODIFIER||1252||69|C7orf49|protein_coding|CODING|NM_001243751.1||1),downstream_gene_variant(MODIFIER||1252||69|C7orf49|protein_coding|CODING|NM_001243752.1||1),downstream_gene_variant(MODIFIER||1252||69|C7orf49|protein_coding|CODING|NM_001243753.1||1),downstream_gene_variant(MODIFIER||1252||102|C7orf49|protein_coding|CODING|NM_001243754.1||1),downstream_gene_variant(MODIFIER||1252||102|C7orf49|protein_coding|CODING|NM_001243755.1||1),downstream_gene_variant(MODIFIER||1252||157|C7orf49|protein_coding|CODING|NM_024033.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.9857,0.9712,0.996,0.93,0.78,1.00,,0.048631(N),0.000(P),2.21(T),0.0000(T),0.187,0.271414,5.68,3.87,-0.977000,0.341000,0.015000,0.008000,0.961000,0.233000,4.9538
synonymous_variant,WDR91,SILENT,NM_014149.3:p.Ser676Ser/c.2028G>A,tcG/tcA,LOW,,0.712061,0.8214,rs292557,,,,,,chr7,134871775,134871775,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser676Ser/c.2028G>A|747|WDR91|protein_coding|CODING|NM_014149.3|14|1),"H1ESC:H3K36me3,GM12878:Pax5,GM12878:BCL3,GM12878:BATF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:Yy1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:EBF,GM12878:IRF4,GM12878:PolII,NHEK:H3K36me3,GM12878:BCL11A,HepG2:H3K36me3,GM12878:NFKB,GM12878:DNase1,GM06990:H3K36me3,GM12878:PU1,GM06990:DNase1,GM12878:Tcf12",,,,0.8078,0.8372,0.7068,0.67,0.55,0.73,,,,,,,,,,,,,,,,
synonymous_variant,WDR91,SILENT,NM_014149.3:p.Asp417Asp/c.1251C>T,gaC/gaT,LOW,,0.655751,0.6131,rs292575,,,,,,chr7,134879830,134879830,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp417Asp/c.1251C>T|747|WDR91|protein_coding|CODING|NM_014149.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7556,0.804,0.7078,0.66,0.55,0.72,,,,,,,,,,,,,,,,
missense_variant,WDR91,MISSENSE,NM_014149.3:p.Pro257Leu/c.770C>T,cCt/cTt,MODERATE,COSM324308(1),0.655152,0.6131,rs292592,0.42(T),0.365(B),0.975(L),-1.0245(T),,chr7,134889141,134889141,G,A,hom,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro257Leu/c.770C>T|747|WDR91|protein_coding|CODING|NM_014149.3|6|1),"H1ESC:H3K36me3,NHEK:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HMEC:H3K4me2,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7536,0.804,0.7087,0.66,0.55,0.72,,0.000002(D),0.000(P),"1.37,-0.19,0.39(T,T,T)",0.0000(T),0.319,4.596691,5.4,5.4,0.655000,2.548000,6.474000,0.954000,0.636000,1.000000,17.3703
synonymous_variant,CNOT4,SILENT,NM_001190850.1:p.Thr692Thr/c.2076A>G,acA/acG,LOW,,0.980431,1,rs6969632,,,,,,chr7,135047703,135047703,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr621Thr/c.1863A>G|642|CNOT4|protein_coding|CODING|NM_001190847.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr689Thr/c.2067A>G|710|CNOT4|protein_coding|CODING|NM_001190849.1|12|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr692Thr/c.2076A>G|713|CNOT4|protein_coding|CODING|NM_001190850.1|12|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr618Thr/c.1854A>G|639|CNOT4|protein_coding|CODING|NM_013316.3|11|1)","H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,1,0.9942,0.999,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,CNOT4,MISSENSE,NM_001190850.1:p.Val548Ile/c.1642G>A,Gta/Ata,MODERATE,,0.273962,0.5218,rs3812265,0.2(T),"0.0,0.001(B,B)",0.06(N),-0.9347(T),,chr7,135048804,135048804,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val545Ile/c.1633G>A|710|CNOT4|protein_coding|CODING|NM_001190849.1|11|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val548Ile/c.1642G>A|713|CNOT4|protein_coding|CODING|NM_001190850.1|11|1),intron_variant(MODIFIER|||c.1628-866G>A|642|CNOT4|protein_coding|CODING|NM_001190847.1|10|1),intron_variant(MODIFIER|||c.1619-866G>A|639|CNOT4|protein_coding|CODING|NM_013316.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.3199,0.2455,0.24,0.20,0.25,,0.000004(D),0.000(P),"1.03,1.03(T,T)",0.0000(T),0.025,0.156993,5.85,4.97,0.655000,1.477000,2.408000,0.999000,1.000000,1.000000,10.91
synonymous_variant,CNOT4,SILENT,NM_001190850.1:p.Tyr272Tyr/c.816T>C,taT/taC,LOW,,0.9998,1,rs2696877,,,,,,chr7,135095270,135095270,A,G,hom,"splice_region_variant(LOW|||c.813T>C|572|CNOT4|protein_coding|CODING|NM_001008225.2|7|1),splice_region_variant(LOW|||c.813T>C|710|CNOT4|protein_coding|CODING|NM_001190849.1|7|1),splice_region_variant(LOW|||c.813T>C|639|CNOT4|protein_coding|CODING|NM_013316.3|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr272Tyr/c.816T>C|642|CNOT4|protein_coding|CODING|NM_001190847.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr272Tyr/c.816T>C|575|CNOT4|protein_coding|CODING|NM_001190848.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr272Tyr/c.816T>C|713|CNOT4|protein_coding|CODING|NM_001190850.1|7|1),intron_variant(MODIFIER|||c.812+4T>C|572|CNOT4|protein_coding|CODING|NM_001008225.2|7|1),intron_variant(MODIFIER|||c.812+4T>C|710|CNOT4|protein_coding|CODING|NM_001190849.1|7|1),intron_variant(MODIFIER|||c.812+4T>C|639|CNOT4|protein_coding|CODING|NM_013316.3|7|1)","HUVEC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,NUP205,MISSENSE,NM_015135.2:p.Met373Thr/c.1118T>C,aTg/aCg,MODERATE,COSM3762392(2),0.0499201,0.0516,rs58392569,0.47(T),0.0(B),-1.39(N),-1.0511(T),,chr7,135269655,135269655,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met373Thr/c.1118T>C|2012|NUP205|protein_coding|CODING|NM_015135.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0736,0.0504,0.0457,0.03,0.02,0.03,,0.000008(N),1.000(P),"1.6,1.6(T,T)",0.0040(T),0.053,0.464871,5.53,3.68,-0.186000,0.273000,2.702000,0.907000,0.749000,0.985000,10.9304
missense_variant,NUP205,MISSENSE,NM_015135.2:p.Met373Ile/c.1119G>A,atG/atA,MODERATE,COSM3762393(2),0.0351438,0.003,rs61459701,0.4(T),0.0(B),0(N),-1.0354(T),,chr7,135269656,135269656,G,A,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met373Ile/c.1119G>A|2012|NUP205|protein_coding|CODING|NM_015135.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.049,0.0467,0.03,0.02,0.03,,0.000008(D),1.000(N),"1.59,1.59(T,T)",0.0071(T),0.047,1.698742,5.53,-6.05,-0.362000,-0.903000,-1.195000,0.896000,0.628000,0.047000,10.8116
synonymous_variant,NUP205,SILENT,NM_015135.2:p.Ala617Ala/c.1851A>C,gcA/gcC,LOW,COSM1448272(2),0.34365,0.2579,rs7800214,,,,,,chr7,135279315,135279315,A,C,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala617Ala/c.1851A>C|2012|NUP205|protein_coding|CODING|NM_015135.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.3213,0.4841,0.42,0.26,0.50,,,,,,,,,,,,,,,,
synonymous_variant,NUP205,SILENT,NM_015135.2:p.Ala1052Ala/c.3156G>A,gcG/gcA,LOW,COSM3762394(1),0.0355431,0.003,rs61734146,,,,,,chr7,135292080,135292080,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1052Ala/c.3156G>A|2012|NUP205|protein_coding|CODING|NM_015135.2|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.049,0.0457,0.04,0.03,0.04,,,,,,,,,,,,,,,,
synonymous_variant,NUP205,SILENT,NM_015135.2:p.Gln1058Gln/c.3174G>A,caG/caA,LOW,COSM3762395(1),0.109625,0.0685,rs61734151,,,,,,chr7,135292098,135292098,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1058Gln/c.3174G>A|2012|NUP205|protein_coding|CODING|NM_015135.2|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.062,0.0586,0.08,0.13,0.06,,,,,,,,,,,,,,,,
synonymous_variant,NUP205,SILENT,NM_015135.2:p.Ala1336Ala/c.4008C>T,gcC/gcT,LOW,,0.0355431,0.003,rs11550518,,,,,,chr7,135304215,135304215,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1336Ala/c.4008C>T|2012|NUP205|protein_coding|CODING|NM_015135.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.049,0.0457,0.04,0.04,0.04,,,,,,,,,,,,,,,,
missense_variant,NUP205,MISSENSE,NM_015135.2:p.Glu1356Gln/c.4066G>C,Gaa/Caa,MODERATE,,0.980032,1,rs7810767,0.53(T),0.001(B),-0.6(N),-0.9623(T),,chr7,135304273,135304273,G,C,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu1356Gln/c.4066G>C|2012|NUP205|protein_coding|CODING|NM_015135.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,0.999,0.98,0.95,1.00,,0.000000(N),0.000(P),1.6(T),0.0000(T),0.029,-1.054385,5.67,5.67,-0.335000,1.413000,3.809000,0.124000,0.994000,1.000000,15.9369
synonymous_variant,NUP205,SILENT,NM_015135.2:p.Ala1869Ala/c.5607T>C,gcT/gcC,LOW,COSM150396(3),0.251198,0.253,rs12540688,,,,,,chr7,135329690,135329690,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1869Ala/c.5607T>C|2012|NUP205|protein_coding|CODING|NM_015135.2|40|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3558,0.196,0.1968,0.21,0.24,0.19,,,,,,,,,,,,,,,,
synonymous_variant,NUP205,SILENT,NM_015135.2:p.Asn1969Asn/c.5907C>T,aaC/aaT,LOW,COSM3762396(1),0.0541134,0.0546,rs61740269,,,,,,chr7,135333172,135333172,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1969Asn/c.5907C>T|2012|NUP205|protein_coding|CODING|NM_015135.2|43|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0798,0.0504,0.0497,0.04,0.04,0.04,,,,,,,,,,,,,,,,
synonymous_variant,SLC13A4,SILENT,NM_012450.2:p.Leu65Leu/c.195T>C,ctT/ctC,LOW,COSM1568616(2),0.45028,0.4435,rs4596594,,,,,,chr7,135406176,135406176,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu65Leu/c.195T>C|626|SLC13A4|protein_coding|CODING|NM_012450.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4663,0.3184,0.4553,0.48,0.52,0.46,,,,,,,,,,,,,,,,
synonymous_variant,SVOPL,SILENT,NM_001139456.1:p.Ala446Ala/c.1338A>G,gcA/gcG,LOW,,0.263379,0.3919,rs3734944,,,,,,chr7,138305806,138305806,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala446Ala/c.1338A>G|492|SVOPL|protein_coding|CODING|NM_001139456.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala294Ala/c.882A>G|340|SVOPL|protein_coding|CODING|NM_174959.3|10|1)","GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2536,0.3444,0.3141,0.25,0.12,0.32,,,,,,,,,,,,,,,,
missense_variant,SVOPL,MISSENSE,NM_001139456.1:p.Phe385Cys/c.1154T>G,tTc/tGc,MODERATE,COSM3762399(3),0.476438,0.3452,rs2305816,0.25(T),"0.983,0.912(D,D)",1.82(L),-0.8776(T),,chr7,138312122,138312122,A,C,het,"missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe385Cys/c.1154T>G|492|SVOPL|protein_coding|CODING|NM_001139456.1|11|1),missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe233Cys/c.698T>G|340|SVOPL|protein_coding|CODING|NM_174959.3|8|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4755,0.5187,0.7416,0.63,0.40,0.74,,0.000000(D),0.000(P),"-0.86,-0.86,-0.86,-0.86(T,T,T,T)",0.0000(T),0.519,3.635035,5.61,5.61,0.533000,2.141000,4.588000,0.854000,1.000000,1.000000,15.8094
synonymous_variant,SVOPL,SILENT,NM_001139456.1:p.Pro8Pro/c.24T>C,ccT/ccC,LOW,,0.604433,0.627,rs10250576,,,,,,chr7,138363767,138363767,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro8Pro/c.24T>C|492|SVOPL|protein_coding|CODING|NM_001139456.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.4683,0.4481,0.4036,0.54,0.84,0.41,,,,,,,,,,,,,,,,
synonymous_variant,ATP6V0A4,SILENT,NM_020632.2:p.His604His/c.1812T>C,caT/caC,LOW,,0.677516,0.8472,rs3807154,,,,,,chr7,138417718,138417718,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His604His/c.1812T>C|840|ATP6V0A4|protein_coding|CODING|NM_020632.2|17|1),synonymous_variant(LOW|SILENT|caT/caC|p.His604His/c.1812T>C|840|ATP6V0A4|protein_coding|CODING|NM_130840.2|16|1),synonymous_variant(LOW|SILENT|caT/caC|p.His604His/c.1812T>C|840|ATP6V0A4|protein_coding|CODING|NM_130841.2|16|1)",GM12878:H3K36me3,,,,0.7239,0.7824,0.7237,0.63,0.47,0.72,,,,,,,,,,,,,,,,
synonymous_variant,ATP6V0A4,SILENT,NM_020632.2:p.Phe554Phe/c.1662C>T,ttC/ttT,LOW,,0.716653,0.8403,rs1026435,,,,,,chr7,138418910,138418910,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe554Phe/c.1662C>T|840|ATP6V0A4|protein_coding|CODING|NM_020632.2|16|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe554Phe/c.1662C>T|840|ATP6V0A4|protein_coding|CODING|NM_130840.2|15|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe554Phe/c.1662C>T|840|ATP6V0A4|protein_coding|CODING|NM_130841.2|15|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.7004,0.7709,0.7147,0.68,0.61,0.72,,,,,,,,,,,,,,,,
missense_variant,ATP6V0A4,MISSENSE,NM_020632.2:p.Val2Ala/c.5T>C,gTg/gCg,MODERATE,,0.679513,0.5327,rs10258719,0.14(T),0.0(B),-1.095(N),-0.9306(T),,chr7,138455988,138455988,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val2Ala/c.5T>C|840|ATP6V0A4|protein_coding|CODING|NM_020632.2|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val2Ala/c.5T>C|840|ATP6V0A4|protein_coding|CODING|NM_130840.2|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val2Ala/c.5T>C|840|ATP6V0A4|protein_coding|CODING|NM_130841.2|2|1)",GM12878:H3K36me3,,,,0.7791,0.5576,0.7376,0.73,0.75,0.73,,0.000075(N),1.000(P),"-1.79,-1.79,-1.79(D,D,D)",0.0000(T),0.046,1.023017,4.76,1.95,-0.996000,-0.008000,1.244000,0.330000,0.975000,0.993000,6.3994
missense_variant,TMEM213,MISSENSE,NM_001085429.1:p.Ser36Thr/c.107G>C,aGc/aCc,MODERATE,COSM3762404(2),0.671126,0.6925,rs61729750,1(T),"0.0,0.0(B,B)",-0.895(N),-0.9539(T),,chr7,138486096,138486096,G,C,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser36Thr/c.107G>C|107|TMEM213|protein_coding|CODING|NM_001085429.1|2|1),GM12878:H3K36me3,,,,0.6022,0.6643,0.6282,0.66,0.72,0.63,,0.472084(N),1.000(P),,0.0000(T),0.042,-2.686823,5.03,2.16,-2.061000,0.075000,0.358000,0.006000,0.000000,0.000000,4.426
synonymous_variant,KIAA1549,SILENT,NM_001164665.1:p.Pro1236Pro/c.3708G>T,ccG/ccT,LOW,COSM4161829(1),0.755391,0.8998,rs7802841,,,,,,chr7,138583840,138583840,C,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro1236Pro/c.3708G>T|1950|KIAA1549|protein_coding|CODING|NM_001164665.1|9|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro1236Pro/c.3708G>T|1934|KIAA1549|protein_coding|CODING|NM_020910.2|9|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.6779,0.8156,0.6491,0.71,0.75,0.70,,,,,,,,,,,,,,,,
missense_variant,ZC3HAV1,MISSENSE,NM_020119.3:p.Gln701Glu/c.2101C>G,Cag/Gag,MODERATE,COSM1131699(3),0.565096,0.6776,rs2297236,0.63(T),0.024(B),2.14(M),-1.0092(T),,chr7,138740037,138740037,G,C,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln701Glu/c.2101C>G|902|ZC3HAV1|protein_coding|CODING|NM_020119.3|10|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5777,0.5879,0.5586,0.53,0.46,0.57,,0.398338(N),1.000(P),"3.3,3.24(T,T)",0.0000(T),0.029,1.153136,3.68,1.78,0.591000,0.508000,0.699000,0.039000,0.030000,0.003000,6.474
missense_variant,ZC3HAV1,MISSENSE,NM_020119.3:p.His565Gln/c.1695C>G,caC/caG,MODERATE,,0.241014,0.3929,rs2297241,0.54(T),"0.002,0.0(B,B)",1.61(L),-0.9480(T),,chr7,138761034,138761034,G,C,het,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His565Gln/c.1695C>G|902|ZC3HAV1|protein_coding|CODING|NM_020119.3|6|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His565Gln/c.1695C>G|699|ZC3HAV1|protein_coding|CODING|NM_024625.3|6|1),splice_region_variant(LOW|||c.1695C>G|902|ZC3HAV1|protein_coding|CODING|NM_020119.3|6|1),splice_region_variant(LOW|||c.1695C>G|699|ZC3HAV1|protein_coding|CODING|NM_024625.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1339,0.3444,0.1233,0.16,0.22,0.13,,0.000302(N),1.000(P),"3.33,3.32,2.31(T,T,T)",0.0000(T),0.179,0.594847,5.14,-2.93,-0.302000,-0.476000,-0.235000,0.003000,0.000000,0.000000,1.9853
missense_variant,ZC3HAV1,MISSENSE,NM_020119.3:p.Arg485Lys/c.1454G>A,aGa/aAa,MODERATE,COSM4004316(1),0.232228,0.378,rs2236426,0.79(T),"0.029,0.013(B,B)",0.55(N),-0.9259(T),,chr7,138764233,138764233,C,T,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg485Lys/c.1454G>A|902|ZC3HAV1|protein_coding|CODING|NM_020119.3|4|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg485Lys/c.1454G>A|699|ZC3HAV1|protein_coding|CODING|NM_024625.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1319,0.3415,0.1243,0.16,0.21,0.13,,0.374667(N),1.000(P),"3.38,3.36,2.38(T,T,T)",0.0000(T),0.017,0.547637,4.64,-3.24,-0.165000,-0.834000,-0.407000,0.021000,0.000000,0.000000,7.2643
missense_variant,C7orf55-LUC7L2,MISSENSE,NM_001244584.2:p.Ser8Ala/c.22T>G,Tcg/Gcg,MODERATE,COSM1600101(2),0.417133,0.2024,rs10265,0.63(T),"0.0,0.0(B,B)",-0.205(N),-0.9994(T),,chr7,139026152,139026152,T,G,het,"missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser8Ala/c.22T>G|458|C7orf55-LUC7L2|protein_coding|CODING|NM_001244584.2|1|1),missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser8Ala/c.22T>G|113|C7orf55|protein_coding|CODING|NM_197964.4|1|1),intron_variant(MODIFIER|||c.-26+889T>G|389|LUC7L2|protein_coding|CODING|NM_001244585.1|1|1),intron_variant(MODIFIER|||n.150+807T>G||C7orf55||CODING|NR_073060.1|1|1),intron_variant(MODIFIER|||n.170+787T>G||C7orf55||CODING|NR_073058.1|1|1),intron_variant(MODIFIER|||n.170+787T>G||C7orf55||CODING|NR_073059.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,HepG2:p300,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,K562:TFIIIC-110,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,K562:Znf263,CD4:H2AK9ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,GM12878:p300,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,CD4:CTCF,CD4:H4K5ac,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,H1ESC:p300,HepG2:TAF1,IMR90:H3K18ac,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.2628,0.2709,0.2763,0.43,0.78,0.25,,0.588099(N),1.000(P),"1.05,1.63(T,T)",0.0000(T),0.036,1.222766,5.46,2.58,-0.187000,0.103000,1.201000,0.796000,0.997000,1.000000,9.3002
synonymous_variant,KLRG2,SILENT,NM_198508.2:p.Pro365Pro/c.1095A>C,ccA/ccC,LOW,,0.444888,0.3313,rs11763327,,,,,,chr7,139138871,139138871,T,G,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro365Pro/c.1095A>C|409|KLRG2|protein_coding|CODING|NM_198508.2|4|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3466,0.3674,0.3857,0.38,0.55,0.29,,,,,,,,,,,,,,,,
missense_variant,KLRG2,MISSENSE,NM_198508.2:p.Gly339Ala/c.1016G>C,gGc/gCc,MODERATE,COSM452442(4),0.17512,0.2113,rs17160911,0.83(T),0.025(B),0(N),-0.9536(T),,chr7,139138950,139138950,C,G,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly339Ala/c.1016G>C|409|KLRG2|protein_coding|CODING|NM_198508.2|4|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.1748,0.1311,0.1252,,,,,0.444710(N),0.000(P),2.31(T),0.0000(T),0.212,0.456958,4.78,2.9,0.655000,0.578000,0.271000,0.903000,0.542000,0.488000,7.5752
missense_variant,KLRG2,MISSENSE,NM_198508.2:p.Lys152Thr/c.455A>C,aAg/aCg,MODERATE,COSM1622418(11),0.626597,0.6746,rs1860150,1(T),"0.0,0.0(B,B)",-0.975(N),-0.9630(T),,chr7,139167934,139167934,T,G,het,missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys152Thr/c.455A>C|409|KLRG2|protein_coding|CODING|NM_198508.2|1|1),"H1ESC:USF1,H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4918,0.4841,0.5239,0.65,0.83,0.57,,0.084179(N),1.000(P),"4.03,1.01(T,T)",0.0000(T),0.081,-0.164566,3.42,3.42,-0.335000,0.633000,0.760000,0.707000,0.994000,0.916000,7.9372
missense_variant,KLRG2,MISSENSE,NM_198508.2:p.Ala109Val/c.326C>T,gCg/gTg,MODERATE,COSM3750002(4),0.265575,0.0179,rs12707447,0(D),"0.211,0.149(B,B)",0.55(N),-0.9122(T),,chr7,139168063,139168063,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala109Val/c.326C>T|409|KLRG2|protein_coding|CODING|NM_198508.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2025,0.2565,0.3161,0.38,0.45,0.34,,0.339448(U),1.000(P),"3.73,0.7(T,T)",0.0000(T),0.06,1.978353,3.44,1.48,0.484000,0.110000,0.302000,0.123000,0.100000,0.000000,9.4134
missense_variant,TBXAS1,MISSENSE,NM_001166253.1:p.Glu207Asp/c.621A>C,gaA/gaC,MODERATE,,0.996805,0.999,rs386599905,1(T),"0.001,0.003,0.001(B,B,B)",,-0.9346(T),,chr7,139653196,139653196,A,C,hom,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu161Asp/c.483A>C|534|TBXAS1|protein_coding|CODING|NM_001061.4|6|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu161Asp/c.483A>C|534|TBXAS1|protein_coding|CODING|NM_001130966.2|10|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu207Asp/c.621A>C|580|TBXAS1|protein_coding|CODING|NM_001166253.1|7|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu93Asp/c.279A>C|466|TBXAS1|protein_coding|CODING|NM_001166254.1|8|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu161Asp/c.483A>C|460|TBXAS1|protein_coding|CODING|NM_030984.3|6|1),non_coding_exon_variant(MODIFIER|||n.747A>C||TBXAS1||CODING|NR_029394.1|6|1)",HepG2:H3K27me3,,,,0.9959,0.9928,0.994,0.99,1.00,0.99,,0.009968(N),0.000(P),"-0.36,-0.36,-0.36,-0.36,-0.36,-0.36,-0.36,-0.36,-0.36(T,T,T,T,T,T,T,T,T)",0.0000(T),0.084,-0.094119,5.43,-0.525,-0.121000,-0.247000,-0.559000,0.986000,0.216000,0.001000,1.848
synonymous_variant,PARP12,SILENT,NM_022750.2:p.Pro637Pro/c.1911G>A,ccG/ccA,LOW,COSM4004326(1),0.375599,0.498,rs3735352,,,,,,chr7,139724555,139724555,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro637Pro/c.1911G>A|701|PARP12|protein_coding|CODING|NM_022750.2|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1708,0.3876,0.2117,0.36,0.63,0.23,,,,,,,,,,,,,,,,
synonymous_variant,PARP12,SILENT,NM_022750.2:p.Phe523Phe/c.1569C>T,ttC/ttT,LOW,,0.302117,0.5258,rs2286196,,,,,,chr7,139727135,139727135,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe523Phe/c.1569C>T|701|PARP12|protein_coding|CODING|NM_022750.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1636,0.3631,0.1998,0.23,0.28,0.20,,,,,,,,,,,,,,,,
missense_variant,KDM7A,MISSENSE,NM_030647.1:p.Arg644Ser/c.1930C>A,Cgt/Agt,MODERATE,COSM321080(3),0.327476,0.245,rs6950119,0.43(T),0.0(B),-1.995(N),-0.9409(T),,chr7,139797431,139797431,G,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg644Ser/c.1930C>A|941|KDM7A|protein_coding|CODING|NM_030647.1|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3384,0.2767,0.334,0.35,0.38,0.34,,0.001093(N),0.753(P),"2.92,2.68(T,T)",0.0000(T),0.249,0.040418,5.53,3.18,-0.237000,0.399000,2.472000,0.966000,1.000000,1.000000,8.5295
synonymous_variant,KDM7A,SILENT,NM_030647.1:p.Arg538Arg/c.1612A>C,Aga/Cga,LOW,COSM3762429(1),0.333466,0.245,rs1062277,,,,,,chr7,139801777,139801777,T,G,het,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg538Arg/c.1612A>C|941|KDM7A|protein_coding|CODING|NM_030647.1|12|1),"HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3487,0.281,0.335,0.35,0.39,0.34,,,,,,,,,,,,,,,,
synonymous_variant,SLC37A3,SILENT,NM_207113.2:p.Cys288Cys/c.864C>T,tgC/tgT,LOW,COSM150403(1),0.382188,0.4137,rs12703775,,,,-0.9134(T),,chr7,140051091,140051091,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys288Cys/c.864C>T|478|SLC37A3|protein_coding|CODING|NM_001287498.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys288Cys/c.864C>T|443|SLC37A3|protein_coding|CODING|NM_032295.3|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys288Cys/c.864C>T|494|SLC37A3|protein_coding|CODING|NM_207113.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3906,0.3703,0.4553,0.41,0.33,0.46,,,0.000(P),,0.0000(T),.,1.110842,5.33,1.4,0.655000,0.035000,0.753000,0.871000,0.904000,1.000000,9.3106
missense_variant,SLC37A3,MISSENSE,NM_207113.2:p.Val65Leu/c.193G>C,Gtg/Ctg,MODERATE,COSM4004327(1),0.374401,0.4474,rs62490396,0.43(T),"0.002,0.004,0.009,0.007(B,B,B,B)",-0.345(N),-0.9505(T),,chr7,140080087,140080087,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val65Leu/c.193G>C|478|SLC37A3|protein_coding|CODING|NM_001287498.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val65Leu/c.193G>C|443|SLC37A3|protein_coding|CODING|NM_032295.3|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val65Leu/c.193G>C|494|SLC37A3|protein_coding|CODING|NM_207113.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4438,0.3602,0.4592,0.39,0.25,0.46,,0.063802(N),1.000(P),"2.3,2.58,2.59,0.98,1.0(T,T,T,T,T)",0.0000(T),0.161,0.820809,4.93,1.88,0.313000,1.078000,0.407000,0.771000,0.408000,0.028000,4.7566
missense_variant,DENND2A,MISSENSE,NM_015689.3:p.Glu729Lys/c.2185G>A,Gaa/Aaa,MODERATE,COSM3762432(1),0.259185,0.1389,rs2293177,0.17(T),"0.025,0.2(B,B)",2.28(M),-0.9555(T),,chr7,140244560,140244560,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu729Lys/c.2185G>A|1009|DENND2A|protein_coding|CODING|NM_015689.3|12|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:HNF4A,HepG2:DNase1,HepG2:H3K27me3",,,,0.2873,0.2723,0.3191,0.29,0.27,0.30,,0.000000(D),0.000(P),"2.77,2.77,2.77,2.77,2.77(T,T,T,T,T)",0.0000(T),0.425,4.306822,5.1,4.22,0.650000,1.383000,4.769000,0.994000,0.943000,1.000000,14.0959
synonymous_variant,DENND2A,SILENT,NM_015689.3:p.Ser634Ser/c.1902A>G,tcA/tcG,LOW,COSM4161845(1),0.560104,0.8442,rs12704003,,,,,,chr7,140258000,140258000,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser634Ser/c.1902A>G|1009|DENND2A|protein_coding|CODING|NM_015689.3|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.6063,0.513,0.6014,0.52,0.36,0.60,,,,,,,,,,,,,,,,
missense_variant,DENND2A,MISSENSE,NM_015689.3:p.Pro156His/c.467C>A,cCc/cAc,MODERATE,,0.97524,1,rs269243,0.25(T),"0.0,0.0(B,B)",-1.1(N),-1.0222(T),,chr7,140301731,140301731,G,T,hom,missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro156His/c.467C>A|1009|DENND2A|protein_coding|CODING|NM_015689.3|1|1),"H1ESC:H3K36me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,K562:SP1",,,,0.9867,0.9654,0.9175,0.95,0.99,0.94,,0.151087(N),1.000(P),"3.7,3.7,3.7,3.0,1.05(T,T,T,T,T)",0.0000(T),0.171,0.961329,4.81,2.77,-0.363000,0.131000,1.531000,0.712000,0.083000,0.993000,4.2255
synonymous_variant,TMEM178B,SILENT,NM_001195278.1:p.Pro119Pro/c.357C>G,ccC/ccG,LOW,,0.657548,0.7778,rs477223,,,,,,chr7,140774467,140774467,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro119Pro/c.357C>G|294|TMEM178B|protein_coding|CODING|NM_001195278.1|1|1),"H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.6278,0.8026,0.7306,,,,,,,,,,,,,,,,,,,
synonymous_variant,TMEM178B,SILENT,NM_001195278.1:p.Leu183Leu/c.549C>T,ctC/ctT,LOW,,0.191294,0.0972,rs13233459,,,,,,chr7,141137460,141137460,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu183Leu/c.549C>T|294|TMEM178B|protein_coding|CODING|NM_001195278.1|3|1),"GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1401,0.3329,0.4543,,,,,,,,,,,,,,,,,,,
synonymous_variant,WEE2,SILENT,NM_001105558.1:p.Ala264Ala/c.792A>G,gcA/gcG,LOW,COSM4004329(2),0.571885,0.3343,rs6967301,,,,,,chr7,141420768,141420768,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala264Ala/c.792A>G|567|WEE2|protein_coding|CODING|NM_001105558.1|5|1),intron_variant(MODIFIER|||n.656+2948T>C||WEE2-AS1||NON_CODING|NR_015392.1|5|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.6145,0.4928,0.5099,0.59,0.76,0.50,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R3,SILENT,NM_016943.2:p.Gly269Gly/c.807C>T,ggC/ggT,LOW,,0.429313,0.6667,rs2270009,,,,,,chr7,141464765,141464765,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly269Gly/c.807C>T|316|TAS2R3|protein_coding|CODING|NM_016943.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4325,0.5202,0.4632,0.40,0.22,0.49,,,,,,,,,,,,,,,,
missense_variant,TAS2R4,MISSENSE,NM_016944.1:p.Phe7Ser/c.20T>C,tTc/tCc,MODERATE,COSM3762437(1),0.430511,0.6667,rs2233998,0.34(T),0.007(B),-0.55(N),-1.0468(T),,chr7,141478308,141478308,T,C,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe7Ser/c.20T>C|299|TAS2R4|protein_coding|CODING|NM_016944.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4325,0.5245,0.4662,0.40,0.23,0.49,,0.163157(N),1.000(P),5.84(T),0.0000(T),0.062,-0.034653,5.38,1.63,-0.263000,0.123000,1.441000,0.009000,0.000000,0.003000,8.4546
missense_variant,TAS2R4,MISSENSE,NM_016944.1:p.Val96Leu/c.286G>C,Gtc/Ctc,MODERATE,,0.526558,0.745,rs2234001,1(T),0.003(B),-1.61(N),-1.0629(T),,chr7,141478574,141478574,G,C,het,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val96Leu/c.286G>C|299|TAS2R4|protein_coding|CODING|NM_016944.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6002,0.5793,0.4722,0.45,0.36,0.50,,0.002963(N),0.000(P),6.09(T),0.0000(T),0.02,-1.567101,5.52,2.73,-0.876000,0.147000,0.138000,0.152000,0.918000,0.000000,10.3055
missense_variant,TAS2R4,MISSENSE,NM_016944.1:p.Ser171Asn/c.512G>A,aGt/aAt,MODERATE,COSM4161863(1),0.491414,0.745,rs2234002,1(T),0.003(B),0.04(N),-0.9400(T),,chr7,141478800,141478800,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser171Asn/c.512G>A|299|TAS2R4|protein_coding|CODING|NM_016944.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6002,0.5663,0.4722,0.41,0.25,0.50,,0.239661(N),1.000(P),5.72(T),0.0000(T),0.001,-2.486927,5.06,-8.91,-0.508000,-1.732000,-0.744000,0.001000,0.000000,0.000000,10.909
missense_variant,TAS2R5,MISSENSE,NM_018980.2:p.Ser26Ile/c.77G>T,aGc/aTc,MODERATE,,0.452476,0.7014,rs2227264,0.12(T),0.0(B),-0.55(N),-1.0060(T),,chr7,141490238,141490238,G,T,het,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser26Ile/c.77G>T|299|TAS2R5|protein_coding|CODING|NM_018980.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4335,0.5648,0.4672,0.41,0.26,0.49,,,1.000(P),1.32(T),0.0000(T),0.054,-0.178496,4.59,3.43,-0.256000,0.279000,-0.001000,0.004000,0.012000,0.000000,4.8795
missense_variant,TAS2R38,MISSENSE,NM_176817.4:p.Ala262Val/c.785C>T,gCt/gTt,MODERATE,COSM150406(4),0.425519,0.3244,rs1726866,0.05(D),0.117(B),1.75(L),-0.9471(T),,chr7,141672705,141672705,G,A,hom,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala262Val/c.785C>T|333|TAS2R38|protein_coding|CODING|NM_176817.4|1|1),,,RCV000003039.1,,0.638,0.2853,0.5388,0.48,0.34,0.54,,0.041347(N),1.000(P),1.22(T),0.0000(T),0.157,0.923749,4.77,2.94,0.655000,0.712000,0.902000,0.182000,0.001000,0.001000,6.5818
missense_variant,MGAM,MISSENSE,NM_004668.2:p.Asn858Asp/c.2572A>G,Aat/Gat,MODERATE,,0.994409,1,rs2960746,1(T),0.0(B),-3.135(N),-0.9285(T),,chr7,141747658,141747658,A,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn858Asp/c.2572A>G|1857|MGAM|protein_coding|CODING|NM_004668.2|22|1),,,,,1,1,1,0.99,0.98,1.00,,0.004471(N),0.999(P),-1.37(T),0.0000(T),0.074,0.880822,5.37,5.37,-0.128000,1.290000,6.596000,0.954000,1.000000,1.000000,13.2761
synonymous_variant,MGAM,SILENT,NM_004668.2:p.Asn1323Asn/c.3969T>C,aaT/aaC,LOW,COSM4004343(1),0.185903,0.1736,rs62477620,,,,,,chr7,141759676,141759676,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1323Asn/c.3969T>C|1857|MGAM|protein_coding|CODING|NM_004668.2|33|1),,,,,0.2137,0.2378,0.1938,0.17,0.14,0.18,,,,,,,,,,,,,,,,
missense_variant,LOC93432,MISSENSE,NM_001293626.1:p.Phe327Leu/c.981C>G,ttC/ttG,MODERATE,,0.528954,0.4048,rs6464465,0.56(T),0.001(B),,-0.9460(T),,chr7,141838362,141838362,C,G,hom,missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe327Leu/c.981C>G|2515|LOC93432|protein_coding|CODING|NM_001293626.1|10|1),,,,,0.4806,0.4625,0.3469,,,,,,,-2.48(D),0.0000(T),0.069,0.240496,4.5,3.61,-0.215000,1.256000,0.967000,0.899000,1.000000,1.000000,7.9296
missense_variant,LOC93432,MISSENSE,NM_001293626.1:p.Pro590Ser/c.1768C>T,Ccc/Tcc,MODERATE,,0.061901,0.0298,rs73158444,0.4(T),,,-1.0540(T),,chr7,141853951,141853951,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro590Ser/c.1768C>T|2515|LOC93432|protein_coding|CODING|NM_001293626.1|16|1),,,,,0.0818,0.1023,0.1044,,,,,,,,0.0024(T),0.284,1.439068,5.21,2.32,-0.216000,0.252000,3.177000,0.316000,0.354000,0.993000,6.4336
missense_variant,LOC93432,MISSENSE,NM_001293626.1:p.His678Arg/c.2033A>G,cAt/cGt,MODERATE,,0.995008,1,rs7811706,1(T),,,-0.9296(T),,chr7,141857846,141857846,A,G,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His678Arg/c.2033A>G|2515|LOC93432|protein_coding|CODING|NM_001293626.1|18|1),,,,,1,1,1,,,,,,,,0.0000(T),0.032,-1.940876,4.94,2.18,-0.928000,0.372000,1.217000,0.234000,0.406000,0.577000,8.8348
synonymous_variant,LOC93432,SILENT,NM_001293626.1:p.Ala1484Ala/c.4452A>G,gcA/gcG,LOW,,0.619808,0.495,rs4236467,,,,,,chr7,141896059,141896059,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1484Ala/c.4452A>G|2515|LOC93432|protein_coding|CODING|NM_001293626.1|38|1),,,,,0.6237,0.7363,0.661,,,,,,,,,,,,,,,,,,,
synonymous_variant,LOC93432,SILENT,NM_001293626.1:p.Ala1677Ala/c.5031T>A,gcT/gcA,LOW,,0.997204,1,rs2960768,,,,,,chr7,141898522,141898522,T,A,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala1677Ala/c.5031T>A|2515|LOC93432|protein_coding|CODING|NM_001293626.1|44|1),,,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS58,SILENT,NM_001001317.3:p.Lys61Lys/c.183G>A,aaG/aaA,LOW,,0.199681,0.1409,rs1894317,,,,,,chr7,141955128,141955128,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys61Lys/c.183G>A|241|PRSS58|protein_coding|CODING|NM_001001317.3|4|1),NHEK:H3K27me3,,,,0.1339,0.2565,0.1044,0.18,0.33,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PRSS58,SILENT,NM_001001317.3:p.Ala8Ala/c.24T>C,gcT/gcC,LOW,COSM4004347(1),0.279353,0.5109,rs7786497,,,,,,chr7,141957504,141957504,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala8Ala/c.24T>C|241|PRSS58|protein_coding|CODING|NM_001001317.3|2|1),,,,,0.3323,0.3329,0.2485,0.19,0.09,0.25,,,,,,,,,,,,,,,,
synonymous_variant,PRSS1,SILENT,NM_002769.4:p.Asp162Asp/c.486T>C,gaT/gaC,LOW,COSM4161889(1),0.396565,0.2192,rs6666,,,,,,chr7,142460313,142460313,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp162Asp/c.486T>C|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2791,0.5288,0.5835,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS1,MISSENSE,NM_002769.4:p.Lys170Glu/c.508A>G,Aag/Gag,MODERATE,,0.00159744,0,rs201550522,0.57(T),"0.0,0.0(B,B)",0.225(N),-1.0812(T),,chr7,142460335,142460335,A,G,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys170Glu/c.508A>G|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0082,0,0,,,,,0.582927(N),1.000(N),"-2.37,-2.37,-2.37(D,D,D)",0.0000(T),0.213,-2.363980,3.28,-6.56,-2.399000,-1.486000,-4.072000,0.010000,0.000000,0.000000,5.5807
missense_variant,PRSS1,MISSENSE,NM_002769.4:p.Cys171Tyr/c.512G>A,tGt/tAt,MODERATE,COSM4161890(3),,,rs200973660,0(D),"1.0,1.0(D,D)",4.43(H),1.0701(D),,chr7,142460339,142460339,G,A,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys171Tyr/c.512G>A|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),"-4.2,-4.2,-2.52(D,D,D)",0.9633(D),0.928,2.153199,3.28,3.28,0.398000,1.789000,9.762000,0.020000,0.080000,1.000000,14.0086
missense_variant,PRSS1,MISSENSE,NM_002769.4:p.Ser181Asn/c.542G>A,aGc/aAc,MODERATE,COSM4161891(2),,,rs201719096,0.77(T),"0.001,0.0(B,B)",0.345(N),-0.5499(T),,chr7,142460369,142460369,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser181Asn/c.542G>A|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.593804(N),1.000(N),"-3.14,-3.14,-1.52(D,D,D)",0.4923(T),0.112,-2.362164,3.32,-2.6,-0.490000,-0.627000,-1.044000,0.003000,0.000000,0.000000,9.7575
missense_variant,PRSS1,MISSENSE,NM_002769.4:p.Met183Val/c.547A>G,Atg/Gtg,MODERATE,,,,rs200070487,0(D),"0.935,0.935(D,D)",2.51(M),0.8861(D),,chr7,142460374,142460374,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met183Val/c.547A>G|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),"-3.31,-3.31,-1.69(D,D,D)",0.8643(D),0.8,1.925683,3.32,3.32,0.332000,1.462000,7.402000,0.019000,0.720000,1.000000,11.1867
synonymous_variant,PRSS1,SILENT,NM_002769.4:p.Phe184Phe/c.552C>T,ttC/ttT,LOW,,,,,,,,,,chr7,142460379,142460379,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe184Phe/c.552C>T|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS1,SILENT,NM_002769.4:p.Gly187Gly/c.561C>T,ggC/ggT,LOW,COSM3762443(1),,,,,,,,,chr7,142460388,142460388,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly187Gly/c.561C>T|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS1,SILENT,NM_002769.4:p.Leu189Leu/c.567T>C,ctT/ctC,LOW,COSM4161892(2),0.00319489,0,rs377124851,,,,,,chr7,142460394,142460394,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu189Leu/c.567T>C|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS1,SILENT,NM_002769.4:p.Ser195Ser/c.585A>C,tcA/tcC,LOW,,,,,,,,,,chr7,142460412,142460412,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser195Ser/c.585A>C|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS1,SILENT,NM_002769.4:p.Cys196Cys/c.588T>C,tgT/tgC,LOW,COSM3774279(1),,,,,,,,,chr7,142460415,142460415,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys196Cys/c.588T>C|247|PRSS1|protein_coding|CODING|NM_002769.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS1,SILENT,NM_002769.4:p.Asn246Asn/c.738T>C,aaT/aaC,LOW,,0.39377,0.2192,rs6667,,,,,,chr7,142460865,142460865,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn246Asn/c.738T>C|247|PRSS1|protein_coding|CODING|NM_002769.4|5|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2791,0.5288,0.5845,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS2,MISSENSE,NM_002770.2:p.Ala2Gly/c.5C>G,gCt/gGt,MODERATE,,,,rs200484890,,,,,,chr7,142479912,142479912,C,G,het,"missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala2Gly/c.5C>G|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.127C>G||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS2,MISSENSE,NM_002770.2:p.Val3Ala/c.8T>C,gTc/gCc,MODERATE,COSM3927849(2),0.000199681,0,rs377017470,,,,,,chr7,142479915,142479915,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val3Ala/c.8T>C|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.130T>C||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS2,MISSENSE,NM_002770.2:p.Pro4Ser/c.10C>T,Ccc/Tcc,MODERATE,COSM4155643(1),0.000798722,0,rs369591097,,,,,,chr7,142479917,142479917,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro4Ser/c.10C>T|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.132C>T||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS2,SILENT,NM_002770.2:p.Ile11Ile/c.33C>T,atC/atT,LOW,,0.883986,0.8641,rs58649169,,,,,,chr7,142479940,142479940,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile11Ile/c.33C>T|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.155C>T||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9172,0.9452,0.9642,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS2,MISSENSE,NM_002770.2:p.Thr16Ile/c.47C>T,aCc/aTc,MODERATE,COSM4155644(1),,,rs201779716,,,,,,chr7,142479954,142479954,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr16Ile/c.47C>T|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.169C>T||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS2,MISSENSE,NM_002770.2:p.Ser32Tyr/c.95C>A,tCc/tAc,MODERATE,,,,rs199512312,,,,,,chr7,142480002,142480002,C,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser32Tyr/c.95C>A|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.217C>A||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS2,SILENT,NM_002770.2:p.Cys35Cys/c.105C>T,tgC/tgT,LOW,,0.883986,0.8641,rs56146961,,,,,,chr7,142480012,142480012,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys35Cys/c.105C>T|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.227C>T||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9172,0.9452,0.9642,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS2,MISSENSE,NM_002770.2:p.Gln43Lys/c.127C>A,Cag/Aag,MODERATE,,0.704273,0.8611,rs10808019,,,,,,chr7,142480034,142480034,C,A,het,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln43Lys/c.127C>A|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.249C>A||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9131,0.8718,0.9612,,,,,,,,,,,,,,,,,,,
splice_donor_variant,PRSS2,protein_coding,NM_002770.2:c.160C>T,,HIGH,,,,rs201659809,,,,,PRSS2:1.00(1);,chr7,142480067,142480067,C,T,het,"splice_donor_variant(HIGH|||c.160C>T|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),splice_region_variant(LOW|||n.282C>T||PRSS3P2||NON_CODING|NR_001296.3|2|1),intron_variant(MODIFIER|||c.159+1C>T|135|PRSS2|protein_coding|CODING|NM_002770.2|1|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.282C>T||PRSS3P2||NON_CODING|NR_001296.3|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS2,SILENT,NM_002770.2:p.Tyr88Tyr/c.264T>C,taT/taC,LOW,,0.938099,0.9921,rs57725689,,,,,,chr7,142481234,142481234,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr88Tyr/c.264T>C|135|PRSS2|protein_coding|CODING|NM_002770.2|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.391T>C||PRSS3P2||NON_CODING|NR_001296.3|3|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3",,,,0.9949,0.9798,0.996,0.92,0.77,1.00,,,,,,,,,,,,,,,,
missense_variant,PRSS2,MISSENSE,NM_002770.2:p.Trp136Arg/c.406T>A,Tgg/Agg,MODERATE,,0.938898,0.996,rs73740310,,,,,,chr7,142481376,142481376,T,A,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Agg|p.Trp136Arg/c.406T>A|135|PRSS2|protein_coding|CODING|NM_002770.2|2|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),non_coding_exon_variant(MODIFIER|||n.533T>A||PRSS3P2||NON_CODING|NR_001296.3|3|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3",,,,0.9959,0.9798,0.996,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRPV6,SILENT,NM_018646.4:p.Asn694Asn/c.2082T>C,aaT/aaC,LOW,,0.0347444,0,rs4987683,,,,,,chr7,142569556,142569556,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn694Asn/c.2082T>C|725|TRPV6|protein_coding|CODING|NM_018646.4|15|1),downstream_gene_variant(MODIFIER||709||729|EPHB6|protein_coding|CODING|NM_001280794.2||1),downstream_gene_variant(MODIFIER||709||729|EPHB6|protein_coding|CODING|NM_001280795.2||1),downstream_gene_variant(MODIFIER||709||1021|EPHB6|protein_coding|CODING|NM_004445.5||1),downstream_gene_variant(MODIFIER||709|||EPHB6||CODING|NR_104001.2||1)","H1ESC:H3K36me3,GM06990:H3K27me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0041,0.0331,0.0268,0.05,0.08,0.03,,,,,,,,,,,,,,,,
missense_variant,TRPV6,MISSENSE,NM_018646.4:p.Met681Thr/c.2042T>C,aTg/aCg,MODERATE,,0.19389,0.0268,rs386597092,0.82(T),0.0(B),-1.445(N),-0.9481(T),,chr7,142569596,142569596,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met681Thr/c.2042T>C|725|TRPV6|protein_coding|CODING|NM_018646.4|15|1),downstream_gene_variant(MODIFIER||749||729|EPHB6|protein_coding|CODING|NM_001280794.2||1),downstream_gene_variant(MODIFIER||749||729|EPHB6|protein_coding|CODING|NM_001280795.2||1),downstream_gene_variant(MODIFIER||749||1021|EPHB6|protein_coding|CODING|NM_004445.5||1),downstream_gene_variant(MODIFIER||749|||EPHB6||CODING|NR_104001.2||1)","H1ESC:H3K36me3,GM06990:H3K27me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.1052,0.0755,0.23,0.53,0.08,,0.230519(N),1.000(P),1.16(T),0.0000(T),0.007,-2.593259,5.41,1.29,-0.974000,-0.271000,0.975000,0.252000,0.004000,0.080000,5.727
synonymous_variant,TRPV6,SILENT,NM_018646.4:p.Gly626Gly/c.1878A>G,ggA/ggG,LOW,,0.19389,0.0268,rs4987679,,,,,,chr7,142570142,142570142,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly626Gly/c.1878A>G|725|TRPV6|protein_coding|CODING|NM_018646.4|14|1),downstream_gene_variant(MODIFIER||1295||729|EPHB6|protein_coding|CODING|NM_001280794.2||1),downstream_gene_variant(MODIFIER||1295||729|EPHB6|protein_coding|CODING|NM_001280795.2||1),downstream_gene_variant(MODIFIER||1295||1021|EPHB6|protein_coding|CODING|NM_004445.5||1),downstream_gene_variant(MODIFIER||1295|||EPHB6||CODING|NR_104001.2||1)","H1ESC:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.1052,0.0755,0.23,0.53,0.08,,,,,,,,,,,,,,,,
missense_variant,TRPV6,MISSENSE,NM_018646.4:p.Met378Val/c.1132A>G,Atg/Gtg,MODERATE,,0.188898,0.0268,rs386597088,0.37(T),0.0(B),-2.515(N),-0.9037(T),,chr7,142572908,142572908,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met378Val/c.1132A>G|725|TRPV6|protein_coding|CODING|NM_018646.4|9|1),"GM12878:H3K36me3,K562:H3K27me3,K562:ELF1",,,,0.0082,0.1037,0.0755,0.23,0.51,0.08,,0.334276(N),1.000(P),"-1.81,-2.23(D,D)",0.0000(T),0.029,-2.810263,4.74,1.85,-0.215000,0.043000,-1.221000,0.085000,0.010000,0.000000,1.7226
synonymous_variant,TRPV6,SILENT,NM_018646.4:p.Thr360Thr/c.1080G>A,acG/acA,LOW,,0.189896,0.0268,rs386597087,,,,,,chr7,142573263,142573263,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr360Thr/c.1080G>A|725|TRPV6|protein_coding|CODING|NM_018646.4|8|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.1037,0.0755,0.23,0.52,0.08,,,,,,,,,,,,,,,,
missense_variant,TRPV6,MISSENSE,NM_018646.4:p.Cys157Arg/c.469T>C,Tgc/Cgc,MODERATE,,0.188299,0.0268,rs4987657,0.49(T),0.0(B),0(N),-0.9140(T),,chr7,142574913,142574913,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys157Arg/c.469T>C|725|TRPV6|protein_coding|CODING|NM_018646.4|4|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.1037,0.0765,0.22,0.51,0.08,,0.243573(N),1.000(P),0.71(T),0.0000(T),0.024,-1.496583,3.86,1.98,-0.119000,0.009000,0.625000,0.074000,0.006000,0.000000,1.8646
missense_variant,TRPV5,MISSENSE,NM_019841.5:p.Ala561Thr/c.1681G>A,Gcc/Acc,MODERATE,,0.000399361,0,rs139430146,0.69(T),0.099(B),1.175(L),-0.6201(T),,chr7,142609755,142609755,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala561Thr/c.1681G>A|729|TRPV5|protein_coding|CODING|NM_019841.5|13|1),GM12878:H3K36me3,,,,0.001,0,0.001,0.00,0.00,0.00,,0.030452(N),1.000(D),"-1.81,-1.81(D,D)",0.3628(T),0.283,0.297677,5.79,3.97,0.655000,0.889000,0.533000,0.573000,0.324000,0.096000,9.557
synonymous_variant,TRPV5,SILENT,NM_019841.5:p.Thr344Thr/c.1032C>T,acC/acT,LOW,,0.240415,0.0496,rs4252435,,,,,,chr7,142622714,142622714,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr344Thr/c.1032C>T|729|TRPV5|protein_coding|CODING|NM_019841.5|8|1),"K562:Max,H1ESC:USF1,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:USF1,K562:Cmyc,K562:CTCFL,K562:E2F6,K562:H3K27me3,K562:Rad21,K562:DNase1,H1ESC:CTCF",,,,0.1687,0.1138,0.1064,0.24,0.54,0.09,,,,,,,,,,,,,,,,
synonymous_variant,TRPV5,SILENT,NM_019841.5:p.Thr281Thr/c.843A>G,acA/acG,LOW,,0.259585,0.0496,rs4252418,,,,,,chr7,142625249,142625249,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr281Thr/c.843A>G|729|TRPV5|protein_coding|CODING|NM_019841.5|7|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.1687,0.1182,0.1083,0.26,0.59,0.09,,,,,,,,,,,,,,,,
synonymous_variant,TRPV5,SILENT,NM_019841.5:p.Tyr222Tyr/c.666C>T,taC/taT,LOW,COSM4161897(1),0.240615,0.0496,rs4252412,,,,,,chr7,142625882,142625882,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr222Tyr/c.666C>T|729|TRPV5|protein_coding|CODING|NM_019841.5|6|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3",,,,0.1687,0.1138,0.1064,0.24,0.54,0.09,,,,,,,,,,,,,,,,
missense_variant,TRPV5,MISSENSE,NM_019841.5:p.Arg154His/c.461G>A,cGt/cAt,MODERATE,COSM4161898(1),0.332867,0.0873,rs4236480,0.05(D),"0.009,0.011(B,B)",0.55(N),-0.9577(T),,chr7,142626549,142626549,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg154His/c.461G>A|729|TRPV5|protein_coding|CODING|NM_019841.5|4|1),"GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2751,0.2464,0.3042,0.37,0.58,0.27,,0.037614(N),1.000(P),"0.64,0.64,0.64(T,T,T)",0.0000(T),0.03,0.513699,4.85,-8.82,-1.084000,-2.131000,-0.593000,0.071000,0.000000,0.000000,5.8024
missense_variant,TRPV5,MISSENSE,NM_019841.5:p.Ala8Val/c.23C>T,gCa/gTa,MODERATE,,0.0445288,0,rs386591935,0.25(T),"0.007,0.003(B,B)",1.1(L),-1.0974(T),,chr7,142630534,142630534,G,A,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala8Val/c.23C>T|729|TRPV5|protein_coding|CODING|NM_019841.5|1|1),"GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0259,0.0209,0.05,0.11,0.02,,0.950106(N),1.000(P),"-1.26,-1.23,-0.85(T,T,T)",0.0013(T),0.038,0.037124,3.58,-1.91,0.462000,-0.052000,0.358000,0.057000,0.001000,0.001000,1.0313
missense_variant,C7orf34,MISSENSE,NM_178829.4:p.Trp21Arg/c.61T>C,Tgg/Cgg,MODERATE,COSM3928877(1),0.195288,0.0377,rs11977017,0.88(T),,,-0.9544(T),,chr7,142636704,142636704,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp21Arg/c.61T>C|147|C7orf34|protein_coding|CODING|NM_178829.4|1|1),downstream_gene_variant(MODIFIER||1497||732|KEL|protein_coding|CODING|NM_000420.2||1)","NHEK:CTCF,HeLa-S3:DNase1,K562:CTCF,K562:H3K36me3,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.0072,0.0922,0.0885,0.23,0.52,0.08,,,1.000(P),,0.0000(T),0.021,-1.682788,3.97,-7.94,-1.847000,-2.282000,-4.171000,0.004000,0.000000,0.000000,1.3385
missense_variant,PIP,MISSENSE,NM_002652.2:p.Gln79His/c.237A>T,caA/caT,MODERATE,COSM3762449(1),0.0465256,0.002,rs73170678,0.01(D),0.001(B),0(N),-1.0027(T),,chr7,142836203,142836203,A,T,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln79His/c.237A>T|146|PIP|protein_coding|CODING|NM_002652.2|3|1),,,,,0.0194,0.0605,0.1431,0.10,0.03,0.14,,0.010651(N),1.000(P),2.5(T),0.0001(T),0.03,0.744750,4.18,-8.36,-1.437000,-3.599000,-2.469000,0.000000,0.000000,0.000000,11.9753
missense_variant,CLCN1,MISSENSE,NM_000083.2:p.Gly118Trp/c.352G>T,Ggg/Tgg,MODERATE,,0.99361,1,rs10282312,1(T),0.0(B),-2.785(N),-0.9252(T),,chr7,143017807,143017807,G,T,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly118Trp/c.352G>T|988|CLCN1|protein_coding|CODING|NM_000083.2|3|1),non_coding_exon_variant(MODIFIER|||n.439G>T||CLCN1||CODING|NR_046453.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma",,,,0.998,0.9827,0.9841,0.98,1.00,0.97,,0.000000(N),0.976(P),-2.92(D),0.0000(T),0.396,0.304923,4.99,4.99,-0.262000,0.769000,5.971000,0.996000,1.000000,1.000000,9.9701
synonymous_variant,CLCN1,SILENT,NM_000083.2:p.Asp718Asp/c.2154C>T,gaC/gaT,LOW,COSM452527(2),0.478235,0.6141,rs2272251,,,,,,chr7,143042837,143042837,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp718Asp/c.2154C>T|988|CLCN1|protein_coding|CODING|NM_000083.2|17|1),non_coding_exon_variant(MODIFIER|||n.2094C>T||CLCN1||CODING|NR_046453.1|16|1)","NHEK:CTCF,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HMEC:CTCF,K562:E2F6,NHEK:H3K27me3,K562:ELF1,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM06990:CTCF",,,,0.4427,0.585,0.4592,0.40,0.35,0.42,,,,,,,,,,,,,,,,
synonymous_variant,EPHA1,SILENT,NM_005232.4:p.Pro914Pro/c.2742A>G,ccA/ccG,LOW,,0.958866,0.9931,rs1804527,,,,,,chr7,143088823,143088823,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro914Pro/c.2742A>G|976|EPHA1|protein_coding|CODING|NM_005232.4|17|1),downstream_gene_variant(MODIFIER||617||572|ZYX|protein_coding|CODING|NM_001010972.1||1),downstream_gene_variant(MODIFIER||617||572|ZYX|protein_coding|CODING|NM_003461.4||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4me1,IMR90:H3K36me3,IMR90:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.9969,0.9798,0.9245,0.92,0.92,0.93,,,,,,,,,,,,,,,,
missense_variant,EPHA1,MISSENSE,NM_005232.4:p.Met900Val/c.2698A>G,Atg/Gtg,MODERATE,,0.960264,1,rs6967117,1(T),0.0(B),-1.955(N),-0.9606(T),,chr7,143088867,143088867,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met900Val/c.2698A>G|976|EPHA1|protein_coding|CODING|NM_005232.4|17|1),splice_region_variant(LOW|||c.2698A>G|976|EPHA1|protein_coding|CODING|NM_005232.4|17|1),downstream_gene_variant(MODIFIER||661||572|ZYX|protein_coding|CODING|NM_001010972.1||1),downstream_gene_variant(MODIFIER||661||572|ZYX|protein_coding|CODING|NM_003461.4||1)","H1ESC:H3K36me3,K562:PolII,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4me1,IMR90:H3K36me3,IMR90:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.9969,0.9798,0.9245,0.92,0.92,0.93,,0.016567(N),1.000(P),0.14(T),0.0000(T),0.056,-1.962456,4.67,3.78,-0.215000,0.704000,1.959000,0.012000,0.999000,1.000000,8.6529
synonymous_variant,EPHA1,SILENT,NM_005232.4:p.Leu613Leu/c.1837C>T,Ctg/Ttg,LOW,,0.859824,0.996,rs10952549,,,,,,chr7,143093538,143093538,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu613Leu/c.1837C>T|976|EPHA1|protein_coding|CODING|NM_005232.4|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,HepG2:HNF4A,NHEK:H3K36me3",,,,0.9121,0.8876,0.7922,0.78,0.76,0.79,,,,,,,,,,,,,,,,
missense_variant,EPHA1,MISSENSE,NM_005232.4:p.Val160Ala/c.479T>C,gTg/gCg,MODERATE,COSM4161909(1),0.94349,0.9921,rs4725617,0.23(T),0.0(B),-0.975(N),-0.9819(T),,chr7,143097100,143097100,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val160Ala/c.479T>C|976|EPHA1|protein_coding|CODING|NM_005232.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9939,0.9726,0.9195,0.90,0.87,0.92,,0.001125(N),1.000(P),3.96(T),0.0000(T),0.12,0.200225,4.79,3.88,-0.119000,0.577000,0.994000,0.179000,0.003000,0.103000,7.0943
missense_variant,TAS2R60,MISSENSE,NM_177437.1:p.Val44Met/c.130G>A,Gtg/Atg,MODERATE,,0.00958466,0,rs61750008,0.11(T),0.004(B),-0.41(N),-1.0242(T),,chr7,143140675,143140675,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val44Met/c.130G>A|318|TAS2R60|protein_coding|CODING|NM_177437.1|1|1),intron_variant(MODIFIER|||n.206+28383G>A||EPHA1-AS1||NON_CODING|NR_033897.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3",,,,0,0.0144,0.0368,0.02,0.01,0.03,,0.819114(N),1.000(N),1.19(T),0.0157(T),0.018,-0.568767,5.68,0.0464,-1.119000,-0.192000,0.162000,0.001000,0.000000,0.000000,8.7817
synonymous_variant,TAS2R60,SILENT,NM_177437.1:p.Arg310Arg/c.930T>C,cgT/cgC,LOW,COSM3762454(2),0.707268,0.8889,rs386593930,,,,,,chr7,143141475,143141475,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg310Arg/c.930T>C|318|TAS2R60|protein_coding|CODING|NM_177437.1|1|1),intron_variant(MODIFIER|||n.206+29183T>C||EPHA1-AS1||NON_CODING|NR_033897.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3",,,,0.7853,0.7853,0.66,0.62,0.54,0.67,,,,,,,,,,,,,,,,
synonymous_variant,OR6B1,SILENT,NM_001005281.1:p.Ala265Ala/c.795C>T,gcC/gcT,LOW,COSM3762461(1),0.387181,0.5823,rs728275,,,,,,chr7,143701884,143701884,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala265Ala/c.795C>T|311|OR6B1|protein_coding|CODING|NM_001005281.1|1|1),,,,,0.2086,0.5461,0.3201,0.35,0.33,0.36,,,,,,,,,,,,,,,,
synonymous_variant,OR2A5,SILENT,NM_012365.1:p.Tyr290Tyr/c.870T>C,taT/taC,LOW,,0.681709,0.6637,rs4407791,,,,,,chr7,143748364,143748364,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr290Tyr/c.870T>C|311|OR2A5|protein_coding|CODING|NM_012365.1|1|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5521,0.7522,0.502,0.63,0.84,0.54,,,,,,,,,,,,,,,,
synonymous_variant,OR2A25,SILENT,NM_001004488.1:p.Leu32Leu/c.96G>C,ctG/ctC,LOW,,0.33726,0.628,rs59319753,,,,,,chr7,143771408,143771408,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu32Leu/c.96G>C|310|OR2A25|protein_coding|CODING|NM_001004488.1|1|1),,,,,0.2505,0.4467,0.2107,0.21,0.20,0.21,,,,,,,,,,,,,,,,
missense_variant,OR2A25,MISSENSE,NM_001004488.1:p.Ser75Asn/c.224G>A,aGc/aAc,MODERATE,,0.63738,0.6379,rs6951485,0.67(T),0.0(B),0.865(L),-1.0169(T),,chr7,143771536,143771536,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser75Asn/c.224G>A|310|OR2A25|protein_coding|CODING|NM_001004488.1|1|1),"K562:CTCF,HeLa-S3:CTCF,HepG2:CTCF",,,,0.5389,0.7147,0.496,0.60,0.73,0.53,,,1.000(P),7.43(T),0.0000(T),0.018,-2.020272,4.88,2.52,-1.204000,0.059000,-0.086000,0.172000,0.997000,0.000000,4.2596
missense_variant,OR2A25,MISSENSE,NM_001004488.1:p.Ala209Pro/c.625G>C,Gcc/Ccc,MODERATE,,0.613219,0.6369,rs2961135,1(T),0.0(B),-2.355(N),-0.9572(T),,chr7,143771937,143771937,G,C,het,missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala209Pro/c.625G>C|310|OR2A25|protein_coding|CODING|NM_001004488.1|1|1),,,,,0.5337,0.7061,0.4761,0.57,0.69,0.51,,,1.000(P),1.98(T),0.0000(T),0.068,-1.862669,4.84,4.84,-0.215000,1.275000,1.576000,0.193000,0.915000,0.091000,6.7652
missense_variant,OR2A2,MISSENSE,NM_001005480.2:p.Phe280Leu/c.840T>G,ttT/ttG,MODERATE,,0.4998,0.7391,rs2961149,0.27(T),0.119(B),-0.335(N),-0.9069(T),,chr7,143807515,143807515,T,G,het,missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe280Leu/c.840T>G|318|OR2A2|protein_coding|CODING|NM_001005480.2|1|1),"GM06990:H3K27me3,H1ESC:Rad21",,,,0.5603,0.6095,0.3191,0.33,0.34,0.32,,0.004056(U),1.000(P),8.93(T),0.0000(T),0.066,0.100309,3.47,-1.85,-0.385000,-0.278000,-4.661000,0.015000,0.012000,0.000000,5.2051
synonymous_variant,OR2A2,SILENT,NM_001005480.2:p.Asn281Asn/c.843T>C,aaT/aaC,LOW,,0.4998,0.7391,rs2951315,,,,,,chr7,143807518,143807518,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn281Asn/c.843T>C|318|OR2A2|protein_coding|CODING|NM_001005480.2|1|1),"GM06990:H3K27me3,H1ESC:Rad21",,,,0.5603,0.6095,0.3191,0.33,0.34,0.32,,,,,,,,,,,,,,,,
missense_variant,OR2A14,MISSENSE,NM_001001659.1:p.Ser133Ile/c.398G>T,aGc/aTc,MODERATE,,0.659944,0.7371,rs2961160,0.17(T),0.0(B),-0.075(N),-1.0972(T),,chr7,143826603,143826603,G,T,het,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser133Ile/c.398G>T|310|OR2A14|protein_coding|CODING|NM_001001659.1|1|1),,,,,0.5695,0.7435,0.4841,0.61,0.75,0.53,,0.584973(U),1.000(P),5.4(T),0.0000(T),0.03,-0.603996,4.18,3.03,-0.363000,0.263000,-1.556000,0.024000,0.381000,0.000000,3.667
missense_variant,OR2A14,MISSENSE,NM_001001659.1:p.Ser164Arg/c.492C>G,agC/agG,MODERATE,,0.675519,0.7371,rs2961161,1(T),0.0(B),-0.785(N),-0.9583(T),,chr7,143826697,143826697,C,G,het,missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser164Arg/c.492C>G|310|OR2A14|protein_coding|CODING|NM_001001659.1|1|1),,,,,0.5695,0.745,0.4851,0.62,0.79,0.54,,0.004406(N),1.000(P),8.63(T),0.0000(T),0.064,-2.896744,4.18,2.36,-0.216000,0.167000,-3.450000,0.062000,0.991000,0.000000,4.0211
synonymous_variant,ARHGEF35,SILENT,NM_001003702.2:p.Cys458Cys/c.1374C>T,tgC/tgT,LOW,COSM150412(2),0.13099,0.4008,rs4726676,,,,,,chr7,143884103,143884103,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys458Cys/c.1374C>T|484|ARHGEF35|protein_coding|CODING|NM_001003702.2|2|1),downstream_gene_variant(MODIFIER||930||777|CTAGE4|protein_coding|CODING|NM_198495.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0491,0.0937,0.1074,0.08,0.03,0.10,,,,,,,,,,,,,,,,
missense_variant,OR2A7,MISSENSE,NM_001005328.1:p.Thr239Ser/c.716C>G,aCc/aGc,MODERATE,,0.00698882,0,rs200085936,0(D),0.973(D),3.26(M),-0.8380(T),,chr7,143956006,143956006,G,C,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr239Ser/c.716C>G|310|OR2A7|protein_coding|CODING|NM_001005328.1|1|1),downstream_gene_variant(MODIFIER||83|||ARHGEF34P||NON_CODING|NR_033942.1||1)","GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0133,0.0043,0.0139,0.01,0.00,0.02,,,1.000(N),1.03(T),0.1622(T),0.152,1.140148,3.17,1.35,-1.649000,0.375000,4.186000,0.019000,1.000000,1.000000,7.8221
missense_variant,NOBOX,MISSENSE,NM_001080413.3:p.Lys664Arg/c.1991A>G,aAa/aGa,MODERATE,,0.0171725,0,rs77802098,0.11(T),,0.69(N),-0.4802(T),,chr7,144094418,144094418,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys664Arg/c.1991A>G|691|NOBOX|protein_coding|CODING|NM_001080413.3|10|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0274,0.0547,0.04,0.01,0.05,,,1.000(N),"-2.85,-3.16,-2.83(D,D,D)",0.1823(T),0.022,0.536587,4.45,-7.21,0.459000,-1.669000,-1.057000,0.003000,0.000000,0.000000,3.8884
missense_variant,NOBOX,MISSENSE,NM_001080413.3:p.Phe517Leu/c.1549T>C,Ttc/Ctc,MODERATE,,0.696286,0.8343,rs2699503,0.04(D),,1.905(M),-1.0826(T),,chr7,144095600,144095600,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe517Leu/c.1549T>C|691|NOBOX|protein_coding|CODING|NM_001080413.3|9|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8364,0.6138,0.5596,,,,,,0.980(P),"1.39,1.39,1.39(T,T,T)",0.0000(T),0.227,3.248965,4.12,2.97,0.533000,0.733000,1.612000,0.009000,0.080000,0.544000,7.6235
synonymous_variant,NOBOX,SILENT,NM_001080413.3:p.Leu88Leu/c.262C>T,Ctg/Ttg,LOW,COSM4161925(1),0.70627,0.8343,rs727714,,,,,,chr7,144098992,144098992,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu88Leu/c.262C>T|691|NOBOX|protein_coding|CODING|NM_001080413.3|3|1),"K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8364,0.6282,0.5795,0.60,0.66,0.57,,,,,,,,,,,,,,,,
synonymous_variant,CNTNAP2,SILENT,NM_014141.5:p.Ala1241Ala/c.3723G>A,gcG/gcA,LOW,COSM3762466(1),0.549121,0.3869,rs9648691,,,,,,chr7,148106490,148106490,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1241Ala/c.3723G>A|1331|CNTNAP2|protein_coding|CODING|NM_014141.5|23|1),HeLa-S3:H3K27me3,,RCV000081604.3,,0.6319,0.3386,0.5696,0.59,0.65,0.55,,,,,,,,,,,,,,,,
missense_variant,PDIA4,MISSENSE,NM_004911.4:p.Leu439Val/c.1315C>G,Cta/Gta,MODERATE,,,,,0.1(T),0.532(P),2.42(M),-1.1527(T),,chr7,148702440,148702440,G,C,het,missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu439Val/c.1315C>G|645|PDIA4|protein_coding|CODING|NM_004911.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),2.56(T),0.0525(T),0.652,3.404303,5.24,4.35,0.655000,2.445000,1.901000,0.997000,1.000000,1.000000,9.1052
synonymous_variant,ZNF425,SILENT,NM_001001661.2:p.Asn624Asn/c.1872C>T,aaC/aaT,LOW,,0.659145,0.9067,rs11525060,,,,,,chr7,148801091,148801091,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn624Asn/c.1872C>T|752|ZNF425|protein_coding|CODING|NM_001001661.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8405,0.6931,0.6193,0.57,0.42,0.64,,,,,,,,,,,,,,,,
synonymous_variant,ZNF425,SILENT,NM_001001661.2:p.Gln435Gln/c.1305G>A,caG/caA,LOW,,0.603035,0.9067,rs1137432,,,,,,chr7,148801658,148801658,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln435Gln/c.1305G>A|752|ZNF425|protein_coding|CODING|NM_001001661.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8384,0.6643,0.6183,0.50,0.23,0.64,,,,,,,,,,,,,,,,
synonymous_variant,ZNF398,SILENT,NM_170686.2:p.Leu67Leu/c.201G>A,ctG/ctA,LOW,,0.706869,0.9514,rs917124,,,,,,chr7,148851213,148851213,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu67Leu/c.201G>A|642|ZNF398|protein_coding|CODING|NM_170686.2|2|1),5_prime_UTR_variant(MODIFIER||12130|c.-313G>A|471|ZNF398|protein_coding|CODING|NM_020781.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8476,0.7608,0.6978,0.63,0.45,0.72,,,,,,,,,,,,,,,,
missense_variant,ZNF212,MISSENSE,NM_012256.3:p.Glu3Asp/c.9G>T,gaG/gaT,MODERATE,COSM3762471(3),0.0684904,0.003,rs11548535,0.27(T),0.02(B),0.55(N),-0.9854(T),,chr7,148936878,148936878,G,T,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu3Asp/c.9G>T|495|ZNF212|protein_coding|CODING|NM_012256.3|1|1),"K562:ZBTB7A,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.1329,0.062,0.1352,0.10,0.03,0.13,,0.000326(D),0.503(P),2.98(T),0.0002(T),0.107,2.908566,4.66,3.76,0.655000,1.291000,3.277000,0.997000,1.000000,1.000000,10.8729
synonymous_variant,ZNF783,SILENT,NM_001195220.1:p.Ala510Ala/c.1530C>T,gcC/gcT,LOW,,0.0664936,0.002,rs61735518,,,,,,chr7,148979323,148979323,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala510Ala/c.1530C>T|546|ZNF783|protein_coding|CODING|NM_001195220.1|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1339,0.062,0.1352,0.10,0.02,0.13,,,,,,,,,,,,,,,,
missense_variant,ZNF777,MISSENSE,NM_015694.2:p.Val115Ala/c.344T>C,gTc/gCc,MODERATE,COSM3762472(1),0.661142,0.8165,rs3735319,0.05(D),0.006(B),0(N),-1.0177(T),,chr7,149152770,149152770,A,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val115Ala/c.344T>C|831|ZNF777|protein_coding|CODING|NM_015694.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7556,0.6499,0.5646,0.57,0.57,0.57,,0.848735(N),1.000(P),3.35(T),0.0000(T),0.02,1.375810,4.94,2.42,0.379000,0.749000,-0.729000,0.836000,0.009000,0.000000,4.4293
missense_variant,ZNF777,MISSENSE,NM_015694.2:p.Arg70Trp/c.208C>T,Cgg/Tgg,MODERATE,,0.604832,0.8105,rs3735318,0.05(D),0.312(B),0.695(N),-1.1628(T),,chr7,149152906,149152906,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg70Trp/c.208C>T|831|ZNF777|protein_coding|CODING|NM_015694.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7372,0.6225,0.5378,0.51,0.42,0.55,,0.122454(N),0.999(P),3.28(T),0.0000(T),0.102,2.625216,4.66,2.84,-0.362000,0.976000,1.599000,0.897000,0.998000,0.923000,6.5676
missense_variant,KRBA1,MISSENSE,NM_001290187.1:p.Ile695Ser/c.2084T>G,aTc/aGc,MODERATE,COSM4161933(1),0.973442,1,rs709065,1(T),0.0(B),,-0.9668(T),,chr7,149427409,149427409,T,G,het,"missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile695Ser/c.2084T>G|1063|KRBA1|protein_coding|CODING|NM_001290187.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile661Ser/c.1982T>G|1029|KRBA1|protein_coding|CODING|NM_032534.3|14|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9949,0.9553,0.9076,0.95,0.99,0.93,,0.153420(N),1.000(P),"1.83,1.8,1.8(T,T,T)",0.0000(T),0.506,-0.551175,5.43,-1.91,-1.660000,-0.454000,-0.600000,0.000000,0.000000,0.000000,2.3066
missense_variant,SSPO,MISSENSE,NM_198455.2:p.Ala1207Val/c.3620C>T,gCg/gTg,MODERATE,,0.166134,0.1518,rs62490656,,,,,,chr7,149484798,149484798,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1207Val/c.3620C>T|5147|SSPO|protein_coding|CODING|NM_198455.2|25|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:Max,K562:PolII,HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,K562:Cmyc,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,K562:Rad21,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,K562:E2F4",,,,0.2536,0.2147,0.2495,0.17,0.04,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SSPO,SILENT,NM_198455.2:p.Ser2420Ser/c.7260C>T,tcC/tcT,LOW,,,,rs374281876,,,,,,chr7,149497502,149497502,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser2420Ser/c.7260C>T|5147|SSPO|protein_coding|CODING|NM_198455.2|49|1),"H1ESC:DNase1,IMR90:H3K27me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,SSPO,MISSENSE,NM_198455.2:p.Arg3273Trp/c.9817C>T,Cgg/Tgg,MODERATE,,0.249201,0.255,rs740109,,,,,,chr7,149509419,149509419,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg3273Trp/c.9817C>T|5147|SSPO|protein_coding|CODING|NM_198455.2|69|1),IMR90:H3K27me3,,,,0.1881,0.1628,0.1511,0.20,0.31,0.15,,,,,,,,,,,,,,,,
synonymous_variant,SSPO,SILENT,NM_198455.2:p.Cys3484Cys/c.10452C>T,tgC/tgT,LOW,,0.144569,0.2401,rs62492762,,,,,,chr7,149511902,149511902,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys3484Cys/c.10452C>T|5147|SSPO|protein_coding|CODING|NM_198455.2|74|1),"GM06990:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0818,0.1412,0.1421,0.13,0.12,0.14,,,,,,,,,,,,,,,,
missense_variant,SSPO,MISSENSE,NM_198455.2:p.Asn3512Ser/c.10535A>G,aAc/aGc,MODERATE,,0.870807,0.7212,rs10952230,,,,,,chr7,149511985,149511985,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn3512Ser/c.10535A>G|5147|SSPO|protein_coding|CODING|NM_198455.2|74|1),"GM06990:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9376,0.8213,0.825,0.88,0.97,0.84,,,,,,,,,,,,,,,,
synonymous_variant,SSPO,SILENT,NM_198455.2:p.Ser3660Ser/c.10980G>C,tcG/tcC,LOW,,0.113419,0.2381,rs2240362,,,,,,chr7,149513077,149513077,G,C,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser3660Ser/c.10980G>C|5147|SSPO|protein_coding|CODING|NM_198455.2|77|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0818,0.1282,0.1382,0.10,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,SSPO,SILENT,NM_198455.2:p.Ser3727Ser/c.11181T>C,tcT/tcC,LOW,,0.397764,0.4127,rs12674102,,,,,,chr7,149513560,149513560,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser3727Ser/c.11181T>C|5147|SSPO|protein_coding|CODING|NM_198455.2|78|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3241,0.3746,0.2982,0.36,0.46,0.31,,,,,,,,,,,,,,,,
synonymous_variant,SSPO,SILENT,NM_198455.2:p.Pro3885Pro/c.11655A>G,ccA/ccG,LOW,,0.490615,0.4187,rs740113,,,,,,chr7,149515754,149515754,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3885Pro/c.11655A>G|5147|SSPO|protein_coding|CODING|NM_198455.2|83|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.3292,0.3919,0.3042,0.46,0.74,0.32,,,,,,,,,,,,,,,,
synonymous_variant,SSPO,SILENT,NM_198455.2:p.Gly3963Gly/c.11889A>G,ggA/ggG,LOW,,0.491414,0.4157,rs6464034,,,,,,chr7,149516486,149516486,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly3963Gly/c.11889A>G|5147|SSPO|protein_coding|CODING|NM_198455.2|84|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.3313,0.3934,0.3082,0.46,0.74,0.33,,,,,,,,,,,,,,,,
missense_variant,SSPO,MISSENSE,NM_198455.2:p.Gln4107His/c.12321G>T,caG/caT,MODERATE,COSN231373,0.145168,0.2361,rs12536873,,,,,,chr7,149517978,149517978,G,T,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln4107His/c.12321G>T|5147|SSPO|protein_coding|CODING|NM_198455.2|87|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0818,0.1383,0.1372,0.14,0.13,0.14,,,,,,,,,,,,,,,,
missense_variant,SSPO,MISSENSE,NM_198455.2:p.His4164Arg/c.12491A>G,cAc/cGc,MODERATE,,0.428914,0.4167,rs10233245,,,,,,chr7,149518148,149518148,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His4164Arg/c.12491A>G|5147|SSPO|protein_coding|CODING|NM_198455.2|87|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.318,0.3646,0.3062,0.37,0.52,0.30,,,,,,,,,,,,,,,,
synonymous_variant,SSPO,SILENT,NM_198455.2:p.Ala4255Ala/c.12765T>C,gcT/gcC,LOW,,0.462859,0.4256,rs1008335,,,,,,chr7,149518961,149518961,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4255Ala/c.12765T>C|5147|SSPO|protein_coding|CODING|NM_198455.2|90|1),"HepG2:H3K4me2,GM06990:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.3303,0.3833,0.3091,0.44,0.67,0.33,,,,,,,,,,,,,,,,
missense_variant,SSPO,MISSENSE,NM_198455.2:p.His4787Arg/c.14360A>G,cAt/cGt,MODERATE,,0.448882,0.4286,rs1004200,,,,,,chr7,149523277,149523277,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His4787Arg/c.14360A>G|5147|SSPO|protein_coding|CODING|NM_198455.2|101|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3282,0.3732,0.3052,0.43,0.64,0.33,,,,,,,,,,,,,,,,
missense_variant,SSPO,MISSENSE,NM_198455.2:p.Pro4832Leu/c.14495C>T,cCg/cTg,MODERATE,COSM3762476(1),0.129393,0.245,rs62492839,,,,,,chr7,149523584,149523584,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro4832Leu/c.14495C>T|5147|SSPO|protein_coding|CODING|NM_198455.2|102|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0941,0.1268,0.1362,0.12,0.08,0.14,,,,,,,,,,,,,,,,
missense_variant,SSPO,MISSENSE,NM_198455.2:p.Glu4941Lys/c.14821G>A,Gag/Aag,MODERATE,,0.0469249,0,rs12534509,,,,,,chr7,149524913,149524913,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu4941Lys/c.14821G>A|5147|SSPO|protein_coding|CODING|NM_198455.2|105|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0204,0.098,0.1292,0.10,0.02,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ZNF862,SILENT,NM_001099220.1:p.Ala375Ala/c.1125C>T,gcC/gcT,LOW,,0.527356,0.3323,rs4725833,,,,,,chr7,149556518,149556518,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala375Ala/c.1125C>T|1169|ZNF862|protein_coding|CODING|NM_001099220.1|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3681,0.4452,0.5795,0.66,0.78,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ZNF862,SILENT,NM_001099220.1:p.Leu720Leu/c.2160G>C,ctG/ctC,LOW,,0.380591,0.3284,rs2240361,,,,,,chr7,149558409,149558409,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu720Leu/c.2160G>C|1169|ZNF862|protein_coding|CODING|NM_001099220.1|7|1),"K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.3456,0.4741,0.5865,0.51,0.34,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ZNF862,SILENT,NM_001099220.1:p.Leu1008Leu/c.3024C>T,ctC/ctT,LOW,,0.371206,0.3264,rs2074700,,,,,,chr7,149559273,149559273,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1008Leu/c.3024C>T|1169|ZNF862|protein_coding|CODING|NM_001099220.1|7|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3323,0.4625,0.5676,0.48,0.29,0.58,,,,,,,,,,,,,,,,
synonymous_variant,ZNF862,SILENT,NM_001099220.1:p.Gly1072Gly/c.3216C>T,ggC/ggT,LOW,COSM452588(2),0.437899,0.3264,rs2074701,,,,,,chr7,149559465,149559465,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1072Gly/c.3216C>T|1169|ZNF862|protein_coding|CODING|NM_001099220.1|7|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3344,0.487,0.5686,0.56,0.51,0.59,,,,,,,,,,,,,,,,
missense_variant,ZNF862,MISSENSE,NM_001099220.1:p.Glu1154Lys/c.3460G>A,Gag/Aag,MODERATE,,0.0107827,0,rs62621237,0.07(T),0.003(B),0.345(N),-0.9134(T),,chr7,149561323,149561323,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1154Lys/c.3460G>A|1169|ZNF862|protein_coding|CODING|NM_001099220.1|8|1),"CD4:H2BK5ac,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0092,0.0187,0.0298,0.03,0.01,0.04,,0.185154(N),1.000(N),5.38(T),0.0008(T),0.069,2.227265,4.38,-3.07,0.655000,-0.633000,-1.013000,0.022000,0.000000,0.000000,5.9819
synonymous_variant,LRRC61,SILENT,NM_001142928.1:p.Ala78Ala/c.234T>C,gcT/gcC,LOW,COSM1568534(2),0.258586,0.2907,rs3735170,,,,,,chr7,150034184,150034184,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala78Ala/c.234T>C|259|LRRC61|protein_coding|CODING|NM_001142928.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala78Ala/c.234T>C|259|LRRC61|protein_coding|CODING|NM_023942.2|2|1),downstream_gene_variant(MODIFIER||1223||163|RARRES2|protein_coding|CODING|NM_002889.3||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.1571,0.2455,0.25,0.24,0.25,,,,,,,,,,,,,,,,
missense_variant,LRRC61,MISSENSE,NM_001142928.1:p.Asn143Ser/c.428A>G,aAc/aGc,MODERATE,COSM3762480(3),0.258387,0.2897,rs3735169,0.47(T),0.0(B),-0.66(N),-0.9043(T),,chr7,150034378,150034378,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn143Ser/c.428A>G|259|LRRC61|protein_coding|CODING|NM_001142928.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn143Ser/c.428A>G|259|LRRC61|protein_coding|CODING|NM_023942.2|2|1),downstream_gene_variant(MODIFIER||1029||163|RARRES2|protein_coding|CODING|NM_002889.3||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.1571,0.2455,0.25,0.24,0.26,,0.002504(N),1.000(P),"1.93,1.93,1.93(T,T,T)",0.0000(T),0.023,-1.649709,3.82,0.741,-0.665000,-0.314000,-0.123000,0.498000,0.095000,0.000000,7.2278
synonymous_variant,RARRES2,SILENT,NM_002889.3:p.Gly13Gly/c.39T>C,ggT/ggC,LOW,COSM3750009(12),0.369609,0.3204,rs1047207,,,,,,chr7,150037660,150037660,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly13Gly/c.39T>C|163|RARRES2|protein_coding|CODING|NM_002889.3|2|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HSMM:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,K562:Egr1,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:DNase1",,,,0.3538,0.1988,0.2614,0.34,0.52,0.25,,,,,,,,,,,,,,,,
missense_variant,REPIN1,MISSENSE,NM_001099695.1:p.Leu71Pro/c.212T>C,cTg/cCg,MODERATE,COSM452590(1),0.432109,0.4673,rs3735165,0.1(T),"0.0,0.0(B,B)",0(N),-0.9473(T),,chr7,150068371,150068371,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu14Pro/c.41T>C|567|REPIN1|protein_coding|CODING|NM_014374.3|1|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu71Pro/c.212T>C|624|REPIN1|protein_coding|CODING|NM_001099695.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu14Pro/c.41T>C|567|REPIN1|protein_coding|CODING|NM_001099696.2|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu14Pro/c.41T>C|567|REPIN1|protein_coding|CODING|NM_013400.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,IMR90:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.2248,0.3171,0.37,0.51,0.31,,,0.000(P),"5.54,3.29,3.29,3.29,3.27,3.53,3.43,3.29(T,T,T,T,T,T,T,T)",0.0000(T),0.406,-0.483945,5.2,3.4,-1.403000,0.217000,0.888000,0.559000,0.294000,0.040000,7.7378
missense_variant,REPIN1,MISSENSE,NM_001099695.1:p.Arg149His/c.446G>A,cGt/cAt,MODERATE,COSM3762481(1),0.232428,0.3988,rs17173702,0(D),"0.012,0.012(B,B)",1.585(L),-0.9817(T),,chr7,150068605,150068605,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg92His/c.275G>A|567|REPIN1|protein_coding|CODING|NM_014374.3|1|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg149His/c.446G>A|624|REPIN1|protein_coding|CODING|NM_001099695.1|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg92His/c.275G>A|567|REPIN1|protein_coding|CODING|NM_001099696.2|2|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg92His/c.275G>A|567|REPIN1|protein_coding|CODING|NM_013400.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.1527,0.2793,0.20,0.05,0.27,,,0.999(P),"0.51,2.37,2.37,2.37,2.37,2.37,2.37,2.37(T,T,T,T,T,T,T,T)",0.0000(T),0.205,1.420773,5.54,3.6,0.462000,1.305000,0.281000,0.772000,0.014000,0.000000,4.7515
missense_variant,REPIN1,MISSENSE,NM_001099695.1:p.Ala154Val/c.461C>T,gCc/gTc,MODERATE,COSM3762484(2),0.232428,0.3988,rs17173703,0.1(T),"0.533,0.405(P,B)",1.225(L),-0.9173(T),,chr7,150068620,150068620,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala97Val/c.290C>T|567|REPIN1|protein_coding|CODING|NM_014374.3|1|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala154Val/c.461C>T|624|REPIN1|protein_coding|CODING|NM_001099695.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala97Val/c.290C>T|567|REPIN1|protein_coding|CODING|NM_001099696.2|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala97Val/c.290C>T|567|REPIN1|protein_coding|CODING|NM_013400.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.1527,0.2793,0.19,0.05,0.26,,,0.565(P),"0.65,2.45,2.45,2.45,2.45,2.45,2.45,2.45(T,T,T,T,T,T,T,T)",0.0000(T),0.197,3.091429,5.54,3.63,0.462000,1.340000,0.878000,0.982000,0.999000,0.814000,7.3226
synonymous_variant,REPIN1,SILENT,NM_001099695.1:p.Ala258Ala/c.774T>C,gcT/gcC,LOW,COSM452591(5),0.415735,0.4673,rs6722,,,,,,chr7,150068933,150068933,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala201Ala/c.603T>C|567|REPIN1|protein_coding|CODING|NM_014374.3|1|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala258Ala/c.774T>C|624|REPIN1|protein_coding|CODING|NM_001099695.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala201Ala/c.603T>C|567|REPIN1|protein_coding|CODING|NM_001099696.2|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala201Ala/c.603T>C|567|REPIN1|protein_coding|CODING|NM_013400.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.2176,0.3181,0.35,0.44,0.31,,,,,,,,,,,,,,,,
synonymous_variant,ZNF775,SILENT,NM_173680.3:p.Ile44Ile/c.132A>C,atA/atC,LOW,COSM329643(1),0.839058,0.7847,rs386480418,,,,,,chr7,150093701,150093701,A,C,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile44Ile/c.132A>C|537|ZNF775|protein_coding|CODING|NM_173680.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7996,0.8905,0.8917,0.91,0.88,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ZNF775,SILENT,NM_173680.3:p.Thr428Thr/c.1284G>A,acG/acA,LOW,COSM452592(6),0.457867,0.3115,rs7780011,,,,,,chr7,150094853,150094853,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr428Thr/c.1284G>A|537|ZNF775|protein_coding|CODING|NM_173680.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4059,0.5677,0.4563,0.46,0.48,0.44,,,,,,,,,,,,,,,,
synonymous_variant,GIMAP7,SILENT,NM_153236.3:p.Val62Val/c.186A>G,gtA/gtG,LOW,COSM3762485(3),0.78155,0.7421,rs3735081,,,,,,chr7,150217248,150217248,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val62Val/c.186A>G|300|GIMAP7|protein_coding|CODING|NM_153236.3|2|1),"CD4:H2BK5ac,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,CD4:H3K36me3,K562:H3K27me3,CD4:PolII,CD4:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7597,0.7277,0.6302,0.72,0.91,0.63,,,,,,,,,,,,,,,,
synonymous_variant,GIMAP7,SILENT,NM_153236.3:p.Gly91Gly/c.273G>T,ggG/ggT,LOW,,0.109625,0.1855,rs3735079,,,,,,chr7,150217335,150217335,G,T,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly91Gly/c.273G>T|300|GIMAP7|protein_coding|CODING|NM_153236.3|2|1),"CD4:H2BK5ac,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K4me3,CD4:H3K36me3,K562:H3K27me3,CD4:PolII,CD4:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1022,0.1138,0.1272,0.10,0.05,0.13,,,,,,,,,,,,,,,,
missense_variant,GIMAP4,MISSENSE,NM_018326.2:p.Glu128Asp/c.384G>T,gaG/gaT,MODERATE,,0.136781,0.2173,rs2293172,0.29(T),"0.014,0.02(B,B)",0.63(N),-1.1081(T),,chr7,150269542,150269542,G,T,hom,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu128Asp/c.384G>T|329|GIMAP4|protein_coding|CODING|NM_018326.2|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K79me3,CD4:H3K36me3,CD4:H4K20me3,HepG2:H3K27me3",,,,0.1166,0.1412,0.1561,0.13,0.08,0.16,,0.018966(N),1.000(P),"0.02,0.02,0.02(T,T,T)",0.0001(T),0.093,0.001695,4.72,2.86,0.655000,1.226000,-0.964000,0.011000,0.821000,0.000000,7.4594
missense_variant,TMEM176B,MISSENSE,NM_001101311.1:p.Ala134Thr/c.400G>A,Gca/Aca,MODERATE,COSM3762487(1),0.407548,0.5278,rs2072443,0.04(D),"0.985,0.979(D,D)",2.17(M),-0.9024(T),,chr7,150490376,150490376,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala134Thr/c.400G>A|270|TMEM176B|protein_coding|CODING|NM_001101311.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala134Thr/c.400G>A|270|TMEM176B|protein_coding|CODING|NM_001101312.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala97Thr/c.289G>A|233|TMEM176B|protein_coding|CODING|NM_001101314.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala134Thr/c.400G>A|270|TMEM176B|protein_coding|CODING|NM_014020.3|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4806,0.3357,0.4155,0.38,0.31,0.42,,0.704539(N),0.644(P),"4.23,4.23,4.23,4.23,4.23,4.23(T,T,T,T,T,T)",0.0000(T),0.237,1.955452,4.32,2.33,0.448000,2.139000,0.396000,0.019000,0.994000,0.954000,4.8486
missense_variant,TMEM176B,MISSENSE,NM_001101311.1:p.Ser94Arg/c.280A>C,Agt/Cgt,MODERATE,COSM323877(4),0.544129,0.6111,rs3173833,0.45(T),0.001(B),-1.475(N),-1.0515(T),,chr7,150491084,150491084,T,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser94Arg/c.280A>C|270|TMEM176B|protein_coding|CODING|NM_001101311.1|3|1),missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser94Arg/c.280A>C|270|TMEM176B|protein_coding|CODING|NM_001101312.1|3|1),missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser94Arg/c.280A>C|270|TMEM176B|protein_coding|CODING|NM_014020.3|3|1),intron_variant(MODIFIER|||c.205-396A>C|233|TMEM176B|protein_coding|CODING|NM_001101314.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5491,0.4597,0.5825,0.55,0.51,0.58,,0.683094(N),1.000(P),"4.4,4.4,4.4,4.4,4.4(T,T,T,T,T)",0.0000(T),0.072,-0.845274,4.93,-0.527,-0.245000,-0.080000,-0.697000,0.070000,0.361000,0.001000,3.2027
missense_variant,TMEM176A,MISSENSE,NM_018487.2:p.Thr122Ala/c.364A>G,Acg/Gcg,MODERATE,COSM1163465(1),0.90016,0.9365,rs741064,0.53(T),0.0(B),-0.145(N),-1.0825(T),,chr7,150500729,150500729,A,G,het,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr122Ala/c.364A>G|235|TMEM176A|protein_coding|CODING|NM_018487.2|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.865,0.879,0.8002,0.85,0.96,0.79,,0.508493(N),1.000(P),"4.38,4.38,4.38,4.38,4.38(T,T,T,T,T)",0.0000(T),0.083,-0.237626,3.56,-3.79,-0.227000,-1.335000,-1.289000,0.002000,0.000000,0.000000,3.6593
synonymous_variant,AOC1,SILENT,NM_001272072.1:p.Gly342Gly/c.1026C>T,ggC/ggT,LOW,COSM4161946(1),0.0369409,0.0437,rs41465145,,,,,,chr7,150554584,150554584,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly342Gly/c.1026C>T|751|AOC1|protein_coding|CODING|NM_001091.3|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly342Gly/c.1026C>T|770|AOC1|protein_coding|CODING|NM_001272072.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.047,0.049,0.0577,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,AOC1,MISSENSE,NM_001272072.1:p.Thr592Arg/c.1775C>G,aCg/aGg,MODERATE,,1,1,rs6943147,0.11(T),"0.007,0.0(B,B)",-1.1(N),-0.9857(T),,chr7,150556055,150556055,C,G,hom,"missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr592Arg/c.1775C>G|751|AOC1|protein_coding|CODING|NM_001091.3|3|1),missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr592Arg/c.1775C>G|770|AOC1|protein_coding|CODING|NM_001272072.1|3|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,1,1,1,,,,,0.000000(D),1.000(P),"3.75,3.75,3.75,3.75(T,T,T,T)",0.0000(T),0.383,2.355148,5.57,4.68,-0.216000,0.712000,3.703000,0.664000,1.000000,1.000000,14.3573
synonymous_variant,AOC1,SILENT,NM_001272072.1:p.Thr592Thr/c.1776G>C,acG/acC,LOW,,1,1,rs6943420,,,,,,chr7,150556056,150556056,G,C,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr592Thr/c.1776G>C|751|AOC1|protein_coding|CODING|NM_001091.3|3|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr592Thr/c.1776G>C|770|AOC1|protein_coding|CODING|NM_001272072.1|3|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,AOC1,MISSENSE,NM_001272072.1:p.Val635Met/c.1903G>A,Gtg/Atg,MODERATE,COSM4161947(1),0.0621006,0.0446,rs11771771,0.19(T),0.002(B),,-0.9313(T),,chr7,150557578,150557578,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val635Met/c.1903G>A|770|AOC1|protein_coding|CODING|NM_001272072.1|4|1),intron_variant(MODIFIER|||c.1857-11G>A|751|AOC1|protein_coding|CODING|NM_001091.3|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.0746,0.0908,0.1252,0.08,0.02,0.12,,,1.000(P),4.33(T),0.0001(T),0.043,2.482326,3.25,2.35,-1.145000,-0.028000,-1.331000,0.020000,0.000000,0.000000,3.618
synonymous_variant,KCNH2,SILENT,NM_000238.3:p.Tyr652Tyr/c.1956T>C,taT/taC,LOW,COSM4161949(1),0.772165,0.8819,rs1137617,,,,,,chr7,150648198,150648198,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr652Tyr/c.1956T>C|1159|KCNH2|protein_coding|CODING|NM_000238.3|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr312Tyr/c.936T>C|548|KCNH2|protein_coding|CODING|NM_001204798.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr652Tyr/c.1956T>C|888|KCNH2|protein_coding|CODING|NM_172056.2|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr312Tyr/c.936T>C|819|KCNH2|protein_coding|CODING|NM_172057.2|4|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6933,0.6383,0.6044,0.69,0.89,0.59,,,,,,,,,,,,,,,,
synonymous_variant,KCNH2,SILENT,NM_000238.3:p.Leu564Leu/c.1692A>G,ctA/ctG,LOW,COSM1488362(3),0.608427,0.8343,rs1805121,,,,,,chr7,150648789,150648789,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu564Leu/c.1692A>G|1159|KCNH2|protein_coding|CODING|NM_000238.3|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu224Leu/c.672A>G|548|KCNH2|protein_coding|CODING|NM_001204798.1|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu564Leu/c.1692A>G|888|KCNH2|protein_coding|CODING|NM_172056.2|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu224Leu/c.672A>G|819|KCNH2|protein_coding|CODING|NM_172057.2|3|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,K562:H3K79me2,HepG2:H3K27me3",,,,0.4479,0.4625,0.3608,0.49,0.74,0.36,,,,,,,,,,,,,,,,
synonymous_variant,NOS3,SILENT,NM_000603.4:p.Asp258Asp/c.774T>C,gaT/gaC,LOW,COSM4161955(3),0.817692,0.8135,rs1549758,,,,,,chr7,150695726,150695726,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp258Asp/c.774T>C|1203|NOS3|protein_coding|CODING|NM_000603.4|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp258Asp/c.774T>C|596|NOS3|protein_coding|CODING|NM_001160109.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp258Asp/c.774T>C|614|NOS3|protein_coding|CODING|NM_001160110.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp258Asp/c.774T>C|629|NOS3|protein_coding|CODING|NM_001160111.1|6|1)","HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8671,0.7882,0.659,0.76,0.88,0.69,,,,,,,,,,,,,,,,
missense_variant,NOS3,MISSENSE,NM_000603.4:p.Asp298Glu/c.894T>G,gaT/gaG,MODERATE,,0.823682,0.87,rs1799983,1(T),"0.001,0.001,0.001(B,B,B)",,-0.9572(T),,chr7,150696111,150696111,T,G,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp298Glu/c.894T>G|1203|NOS3|protein_coding|CODING|NM_000603.4|8|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp298Glu/c.894T>G|596|NOS3|protein_coding|CODING|NM_001160109.1|7|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp298Glu/c.894T>G|614|NOS3|protein_coding|CODING|NM_001160110.1|7|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp298Glu/c.894T>G|629|NOS3|protein_coding|CODING|NM_001160111.1|7|1)","HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000015053.1|RCV000015054.1|RCV000015055.1|RCV000015056.24|RCV000015057.1|RCV000015058.1,,0.8323,0.7853,0.6561,0.75,0.88,0.68,,0.000676(N),1.000(P),"2.12,2.12,2.12,2.12(T,T,T,T)",0.0000(T),0.051,-1.046920,5.13,1.04,-0.143000,0.032000,-0.370000,0.253000,0.937000,0.353000,0.7114
synonymous_variant,ATG9B,SILENT,NM_173681.5:p.Gly536Gly/c.1608T>C,ggT/ggC,LOW,COSM4161956(2),0.820687,0.8284,rs1835428,,,,,,chr7,150715817,150715817,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly536Gly/c.1608T>C|923|ATG9B|protein_coding|CODING|NM_173681.5|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.647-283T>C||ATG9B||CODING|NR_073169.1|6|1)","H1ESC:H3K36me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.7301,0.8401,0.7535,0.82,0.89,0.79,,,,,,,,,,,,,,,,
missense_variant,ATG9B,MISSENSE,NM_173681.5:p.Asn493Ser/c.1478A>G,aAc/aGc,MODERATE,,0.169728,0.1597,rs7804893,0(D),1.0(D),,-1.1098(T),,chr7,150715947,150715947,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn493Ser/c.1478A>G|923|ATG9B|protein_coding|CODING|NM_173681.5|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.647-413A>G||ATG9B||CODING|NR_073169.1|6|1)","H1ESC:H3K36me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0552,0.098,0.0994,,,,,0.000000(D),,,0.0000(T),0.482,3.433021,4.85,4.85,0.379000,1.818000,7.201000,0.994000,1.000000,1.000000,12.4147
missense_variant,ABCB8,MISSENSE,NM_001282291.1:p.Val152Ile/c.454G>A,Gtc/Atc,MODERATE,,0.0597045,0.0615,rs4148844,0.64(T),"0.016,0.016,0.01,0.027,0.007(B,B,B,B,B)",0.455(N),-1.0015(T),,chr7,150730999,150730999,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val152Ile/c.454G>A|735|ABCB8|protein_coding|CODING|NM_001282291.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val135Ile/c.403G>A|693|ABCB8|protein_coding|CODING|NM_001282292.1|2|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val135Ile/c.403G>A|718|ABCB8|protein_coding|CODING|NM_007188.4|2|1),intron_variant(MODIFIER|||c.145-361G>A|630|ABCB8|protein_coding|CODING|NM_001282293.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.047,0.049,0.0497,0.05,0.06,0.05,,0.000609(N),1.000(N),"-2.31,-2.31,-2.31,-2.31,-2.31,-2.31(D,D,D,D,D,D)",0.0304(T),0.056,-0.775803,4.18,0.441,-1.267000,-0.008000,-0.014000,0.729000,0.918000,0.955000,6.3135
missense_variant,ABCB8,MISSENSE,NM_001282291.1:p.Val559Ile/c.1675G>A,Gtc/Atc,MODERATE,,0.0265575,0.0208,rs56198402,0.3(T),"0.047,0.106,0.079,0.079(B,B,B,B)",0.065(N),-0.6147(T),,chr7,150739054,150739054,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val559Ile/c.1675G>A|735|ABCB8|protein_coding|CODING|NM_001282291.1|15|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val542Ile/c.1624G>A|693|ABCB8|protein_coding|CODING|NM_001282292.1|14|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val454Ile/c.1360G>A|630|ABCB8|protein_coding|CODING|NM_001282293.1|13|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val542Ile/c.1624G>A|718|ABCB8|protein_coding|CODING|NM_007188.4|14|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0337,0.0476,0.0447,0.03,0.01,0.04,,0.000013(D),1.000(D),"-2.7,-2.7,-2.7,-2.7(D,D,D,D)",0.1358(T),0.209,1.399063,4.73,3.83,0.462000,2.456000,5.412000,0.487000,1.000000,1.000000,11.0243
synonymous_variant,ABCB8,SILENT,NM_001282291.1:p.Pro720Pro/c.2160A>C,ccA/ccC,LOW,,0.0593051,0.0615,rs61741011,,,,,,chr7,150742388,150742388,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro720Pro/c.2160A>C|735|ABCB8|protein_coding|CODING|NM_001282291.1|17|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro678Pro/c.2034A>C|693|ABCB8|protein_coding|CODING|NM_001282292.1|16|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro615Pro/c.1845A>C|630|ABCB8|protein_coding|CODING|NM_001282293.1|15|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro703Pro/c.2109A>C|718|ABCB8|protein_coding|CODING|NM_007188.4|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.045,0.049,0.0507,0.05,0.06,0.04,,,,,,,,,,,,,,,,
missense_variant,SLC4A2,MISSENSE,NM_001199692.1:p.Gly26Glu/c.77G>A,gGg/gAg,MODERATE,COSM452631(2),0.237819,0.2877,rs2303929,0.94(T),"0.001,0.001,0.0(B,B,B)",1.445(L),-1.0020(T),,chr7,150761314,150761314,G,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly26Glu/c.77G>A|1241|SLC4A2|protein_coding|CODING|NM_001199692.1|3|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly17Glu/c.50G>A|1232|SLC4A2|protein_coding|CODING|NM_001199693.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly12Glu/c.35G>A|1227|SLC4A2|protein_coding|CODING|NM_001199694.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly26Glu/c.77G>A|1241|SLC4A2|protein_coding|CODING|NM_003040.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.2106,0.4424,0.2425,0.19,0.13,0.23,,0.396634(N),1.000(P),"0.87,-0.9,-0.9,1.46,0.88,0.88,0.65,-0.86,-0.88(T,T,T,T,T,T,T,T,T)",0.0000(T),0.216,0.135334,4.28,-0.421,-0.394000,-0.328000,0.002000,0.059000,0.000000,0.000000,1.1008
synonymous_variant,SLC4A2,SILENT,NM_001199692.1:p.Thr210Thr/c.630T>A,acT/acA,LOW,COSM1744398(3),0.535543,0.7034,rs2229549,,,,,,chr7,150763655,150763655,T,A,het,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr210Thr/c.630T>A|1241|SLC4A2|protein_coding|CODING|NM_001199692.1|6|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr201Thr/c.603T>A|1232|SLC4A2|protein_coding|CODING|NM_001199693.1|5|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr196Thr/c.588T>A|1227|SLC4A2|protein_coding|CODING|NM_001199694.1|5|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr210Thr/c.630T>A|1241|SLC4A2|protein_coding|CODING|NM_003040.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4939,0.6945,0.6163,0.45,0.32,0.51,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A2,SILENT,NM_001199692.1:p.Thr357Thr/c.1071T>C,acT/acC,LOW,COSM4161958(1),0.895966,0.9454,rs2229550,,,,,,chr7,150765065,150765065,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr357Thr/c.1071T>C|1241|SLC4A2|protein_coding|CODING|NM_001199692.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr348Thr/c.1044T>C|1232|SLC4A2|protein_coding|CODING|NM_001199693.1|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr343Thr/c.1029T>C|1227|SLC4A2|protein_coding|CODING|NM_001199694.1|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr357Thr/c.1071T>C|1241|SLC4A2|protein_coding|CODING|NM_003040.3|8|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HSMM:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.819,0.8991,0.8419,0.86,0.92,0.83,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A2,SILENT,NM_001199692.1:p.Thr734Thr/c.2202G>A,acG/acA,LOW,COSM4161959(2),0.449281,0.4157,rs2303937,,,,,,chr7,150768786,150768786,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr734Thr/c.2202G>A|1241|SLC4A2|protein_coding|CODING|NM_001199692.1|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr725Thr/c.2175G>A|1232|SLC4A2|protein_coding|CODING|NM_001199693.1|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr720Thr/c.2160G>A|1227|SLC4A2|protein_coding|CODING|NM_001199694.1|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr734Thr/c.2202G>A|1241|SLC4A2|protein_coding|CODING|NM_003040.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5675,0.572,0.4294,0.42,0.38,0.44,,,,,,,,,,,,,,,,
synonymous_variant,AGAP3,SILENT,NM_031946.5:p.Ala25Ala/c.75T>G,gcT/gcG,LOW,,0.998802,0.997,,,,,,,chr7,150783903,150783903,T,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala25Ala/c.75T>G|396|AGAP3|protein_coding|CODING|NM_001042535.2|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala25Ala/c.75T>G|911|AGAP3|protein_coding|CODING|NM_031946.5|1|1),intron_variant(MODIFIER|||c.-354+807T>G|580|AGAP3|protein_coding|CODING|NM_001281300.1|1|1)","K562:H3K4me3,K562:PolII,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,AGAP3,SILENT,NM_031946.5:p.Ala26Ala/c.78C>G,gcC/gcG,LOW,,0.998802,0.997,,,,,,,chr7,150783906,150783906,C,G,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala26Ala/c.78C>G|396|AGAP3|protein_coding|CODING|NM_001042535.2|1|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala26Ala/c.78C>G|911|AGAP3|protein_coding|CODING|NM_031946.5|1|1),intron_variant(MODIFIER|||c.-354+810C>G|580|AGAP3|protein_coding|CODING|NM_001281300.1|1|1)","K562:H3K4me3,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,AGAP3,MISSENSE,NM_031946.5:p.Gln28Arg/c.83A>G,cAg/cGg,MODERATE,,,,,0.85(T),"0.007,0.008,0.005(B,B,B)",0(N),-0.8536(T),,chr7,150783911,150783911,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln28Arg/c.83A>G|396|AGAP3|protein_coding|CODING|NM_001042535.2|1|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln28Arg/c.83A>G|911|AGAP3|protein_coding|CODING|NM_031946.5|1|1),intron_variant(MODIFIER|||c.-354+815A>G|580|AGAP3|protein_coding|CODING|NM_001281300.1|1|1)","K562:H3K4me3,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,,,,,,,,,0.999(N),"-1.98,-2.2,-0.34(D,D,T)",0.2857(T),0.052,-1.243380,2.59,1.64,-2.094000,-0.016000,0.122000,0.006000,0.115000,0.992000,3.5161
missense_variant,AGAP3,MISSENSE,NM_031946.5:p.Leu30Arg/c.89T>G,cTc/cGc,MODERATE,,,,,0.18(T),,0(N),-0.8639(T),,chr7,150783917,150783917,T,G,hom,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu30Arg/c.89T>G|396|AGAP3|protein_coding|CODING|NM_001042535.2|1|1),missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu30Arg/c.89T>G|911|AGAP3|protein_coding|CODING|NM_031946.5|1|1),intron_variant(MODIFIER|||c.-354+821T>G|580|AGAP3|protein_coding|CODING|NM_001281300.1|1|1)","K562:H3K4me3,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,,,,,,,,,1.000(P),"-2.11,-2.34,-0.45(D,D,T)",0.2622(T),0.082,-0.457912,.,.,-2.418000,-2.418000,0.782000,0.004000,0.083000,0.998000,.
synonymous_variant,GBX1,SILENT,NM_001098834.2:p.Ala132Ala/c.396C>G,gcC/gcG,LOW,COSM3762498(1),0.288938,0.3433,rs13241978,,,,,,chr7,150864240,150864240,G,C,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala132Ala/c.396C>G|363|GBX1|protein_coding|CODING|NM_001098834.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1431,0.3069,0.2217,0.25,0.33,0.22,,,,,,,,,,,,,,,,
synonymous_variant,ASB10,SILENT,NM_001142459.1:p.Ala290Ala/c.870G>C,gcG/gcC,LOW,,0.503794,0.5486,rs2253592,,,,,,chr7,150878260,150878260,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala290Ala/c.870G>C|467|ASB10|protein_coding|CODING|NM_001142459.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala290Ala/c.870G>C|429|ASB10|protein_coding|CODING|NM_001142460.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala275Ala/c.825G>C|452|ASB10|protein_coding|CODING|NM_080871.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2577,0.4467,0.3757,0.48,0.71,0.37,,,,,,,,,,,,,,,,
synonymous_variant,ABCF2,SILENT,NM_005692.4:p.Tyr313Tyr/c.939C>T,taC/taT,LOW,COSM3762505(1),0.419329,0.7202,rs6949587,,,,,,chr7,150916228,150916228,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr313Tyr/c.939C>T|634|ABCF2|protein_coding|CODING|NM_005692.4|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr313Tyr/c.939C>T|623|ABCF2|protein_coding|CODING|NM_007189.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3609,0.4107,0.4563,0.35,0.23,0.41,,,,,,,,,,,,,,,,
synonymous_variant,ABCF2,SILENT,NM_005692.4:p.Leu93Leu/c.279T>C,ctT/ctC,LOW,,0.739018,0.874,rs6464133,,,,,,chr7,150921950,150921950,A,G,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu93Leu/c.279T>C|634|ABCF2|protein_coding|CODING|NM_005692.4|3|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu93Leu/c.279T>C|623|ABCF2|protein_coding|CODING|NM_007189.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5235,0.7839,0.7008,0.71,0.76,0.68,,,,,,,,,,,,,,,,
synonymous_variant,CHPF2,SILENT,NM_019015.2:p.Ser57Ser/c.171C>G,tcC/tcG,LOW,COSM3762506(1),0.448283,0.7183,rs2608293,,,,,,chr7,150931268,150931268,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser57Ser/c.171C>G|772|CHPF2|protein_coding|CODING|NM_019015.2|1|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser49Ser/c.147C>G|764|CHPF2|protein_coding|CODING|NM_001284295.1|2|1)","H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.3609,0.4207,0.4493,0.39,0.34,0.41,,,,,,,,,,,,,,,,
synonymous_variant,CHPF2,SILENT,NM_019015.2:p.Ala509Ala/c.1527C>G,gcC/gcG,LOW,COSM4161971(1),0.433506,0.7153,rs2487154,,,,,,chr7,150934975,150934975,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala501Ala/c.1503C>G|764|CHPF2|protein_coding|CODING|NM_001284295.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala509Ala/c.1527C>G|772|CHPF2|protein_coding|CODING|NM_019015.2|4|1),upstream_gene_variant(MODIFIER||532|||MIR671||NON_CODING|NR_030407.1||1),downstream_gene_variant(MODIFIER||1084||483|SMARCD3|protein_coding|CODING|NM_001003801.1||1),downstream_gene_variant(MODIFIER||1084||470|SMARCD3|protein_coding|CODING|NM_001003802.1||1),downstream_gene_variant(MODIFIER||1084||470|SMARCD3|protein_coding|CODING|NM_003078.3||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3609,0.4164,0.4503,0.37,0.30,0.41,,,,,,,,,,,,,,,,
synonymous_variant,NUB1,SILENT,NM_001243351.1:p.Tyr304Tyr/c.912C>T,taC/taT,LOW,COSM1449335(1),0.384385,0.4603,rs386956,,,,,,chr7,151064064,151064064,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr304Tyr/c.912C>T|639|NUB1|protein_coding|CODING|NM_001243351.1|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr304Tyr/c.912C>T|625|NUB1|protein_coding|CODING|NM_016118.4|9|1)","IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3016,0.4553,0.6302,0.49,0.21,0.62,,,,,,,,,,,,,,,,
synonymous_variant,NUB1,SILENT,NM_001243351.1:p.Ala635Ala/c.1905A>G,gcA/gcG,LOW,COSM4161980(1),0.332867,0.4603,rs2159158,,,,-0.9002(T),,chr7,151074296,151074296,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala635Ala/c.1905A>G|639|NUB1|protein_coding|CODING|NM_001243351.1|15|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala621Ala/c.1863A>G|625|NUB1|protein_coding|CODING|NM_016118.4|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2372,0.4035,0.5249,0.41,0.17,0.51,,,1.000(P),,0.0000(T),.,-0.944139,5.11,1.06,0.482000,0.019000,0.018000,0.142000,0.118000,0.005000,7.6126
missense_variant,WDR86,MISSENSE,NM_198285.2:p.Met355Thr/c.1064T>C,aTg/aCg,MODERATE,COSM3762509(2),0.836462,0.9851,rs4141455,0.21(T),0.0(B),-0.345(N),-1.0126(T),,chr7,151078735,151078735,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys182Arg/c.544T>C|277|WDR86|protein_coding|CODING|NM_001284261.1|5|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met227Thr/c.680T>C|248|WDR86|protein_coding|CODING|NM_001284262.1|6|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met355Thr/c.1064T>C|376|WDR86|protein_coding|CODING|NM_198285.2|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His376His/c.1128T>C|482|WDR86|protein_coding|CODING|NM_001284260.1|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,GM12878:ZEB1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6718,0.8689,0.7823,,,,,0.749514(N),1.000(P),0.46(T),0.0000(T),.,0.702921,4.39,-2.72,-1.507000,-1.008000,0.077000,0.459000,0.012000,0.215000,2.2812
synonymous_variant,WDR86,SILENT,NM_001284260.1:p.His56His/c.168T>C,caT/caC,LOW,,0.707468,0.8194,rs11767693,,,,,,chr7,151097323,151097323,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His56His/c.168T>C|482|WDR86|protein_coding|CODING|NM_001284260.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His56His/c.168T>C|376|WDR86|protein_coding|CODING|NM_198285.2|2|1),5_prime_UTR_variant(MODIFIER||4120|c.-217T>C|277|WDR86|protein_coding|CODING|NM_001284261.1|2|1),5_prime_UTR_variant(MODIFIER||4120|c.-217T>C|248|WDR86|protein_coding|CODING|NM_001284262.1|2|1)","HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6074,0.7522,0.7227,0.71,0.69,0.73,,,,,,,,,,,,,,,,
missense_variant,GALNTL5,MISSENSE,NM_145292.3:p.Cys124Arg/c.370T>C,Tgt/Cgt,MODERATE,,0.801118,0.8403,rs6960270,0(D),0.997(D),2.89(M),-1.0194(T),,chr7,151680072,151680072,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys124Arg/c.370T>C|443|GALNTL5|protein_coding|CODING|NM_145292.3|4|1),splice_region_variant(LOW|||c.370T>C|443|GALNTL5|protein_coding|CODING|NM_145292.3|4|1),non_coding_exon_variant(MODIFIER|||n.889T>C||GALNTL5||CODING|NR_033169.1|5|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.7577,0.8602,0.8449,0.82,0.75,0.86,,0.000053(D),0.000(P),"0.32,0.32(T,T)",0.0000(T),0.316,3.977560,4.65,4.65,0.454000,2.056000,3.525000,0.392000,0.862000,1.000000,12.3487
missense_variant,GALNTL5,MISSENSE,NM_145292.3:p.Thr158Met/c.473C>T,aCg/aTg,MODERATE,COSM3762510(2),0.129992,0.1597,rs35682935,0.22(T),0.0(B),-1.235(N),-1.0863(T),,chr7,151680175,151680175,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr158Met/c.473C>T|443|GALNTL5|protein_coding|CODING|NM_145292.3|4|1),non_coding_exon_variant(MODIFIER|||n.992C>T||GALNTL5||CODING|NR_033169.1|5|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2423,0.1239,0.1511,0.10,0.03,0.14,,0.371357(N),1.000(P),"0.13,0.13(T,T)",0.0001(T),0.045,0.342146,4.65,2.2,-1.735000,0.038000,1.946000,0.002000,0.000000,0.011000,6.4226
missense_variant,KMT2C,MISSENSE,NM_170606.2:p.Gly838Ser/c.2512G>A,Ggt/Agt,MODERATE,,,,rs137949498,0.43(T),0.999(D),1.04(L),-0.8352(T),,chr7,151945007,151945007,C,T,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly838Ser/c.2512G>A|4911|KMT2C|protein_coding|CODING|NM_170606.2|14|1),"HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000244(D),1.000(D),"-2.3,-2.31(D,D)",0.2298(T),0.622,4.381186,5.67,5.67,0.650000,2.658000,7.484000,0.998000,1.000000,1.000000,19.7692
synonymous_variant,KMT2C,SILENT,NM_170606.2:p.Pro377Pro/c.1131A>T,ccA/ccT,LOW,COSM4162022(3),,,rs62478356,,,,,,chr7,151962176,151962176,T,A,het,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro377Pro/c.1131A>T|4911|KMT2C|protein_coding|CODING|NM_170606.2|8|1),"K562:H3K36me3,HSMM:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KMT2C,MISSENSE,NM_170606.2:p.Thr316Ser/c.946A>T,Acc/Tcc,MODERATE,COSM4162024(1),,,rs10454320,0.77(T),0.469(P),-0.135(N),-0.9398(T),,chr7,151970856,151970856,T,A,het,missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr316Ser/c.946A>T|4911|KMT2C|protein_coding|CODING|NM_170606.2|7|1),"H1ESC:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3",,,,,,,,,,,0.000333(D),1.000(D),"-0.5,-0.5(T,T)",0.1621(T),0.289,2.271399,4.87,3.71,0.528000,0.824000,4.229000,0.982000,1.000000,1.000000,10.613
missense_variant,KMT2C,MISSENSE,NM_170606.2:p.Leu291Phe/c.871C>T,Ctt/Ttt,MODERATE,,0.453474,0.4643,rs56850341,0.14(T),0.999(D),0.735(N),-0.2643(T),,chr7,151970931,151970931,G,A,het,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu291Phe/c.871C>T|4911|KMT2C|protein_coding|CODING|NM_170606.2|7|1),"H1ESC:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3",,,,0.4673,0.4539,0.4632,,,,,0.001139(N),1.000(D),"-0.53,-0.53(T,T)",0.3994(T),0.497,4.069233,4.87,4.87,0.650000,2.423000,9.781000,0.999000,1.000000,1.000000,18.3751
synonymous_variant,DPP6,SILENT,NM_130797.3:p.Tyr219Tyr/c.657C>T,taC/taT,LOW,COSM1449516(1),0.697085,0.8919,rs11243339,,,,,,chr7,154429560,154429560,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr155Tyr/c.465C>T|801|DPP6|protein_coding|CODING|NM_001039350.2|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr157Tyr/c.471C>T|803|DPP6|protein_coding|CODING|NM_001936.4|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr219Tyr/c.657C>T|865|DPP6|protein_coding|CODING|NM_130797.3|6|1),intron_variant(MODIFIER|||c.442-89917C>T|758|DPP6|protein_coding|CODING|NM_001290252.1|5|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7638,0.6354,0.7237,0.65,0.53,0.71,,,,,,,,,,,,,,,,
synonymous_variant,DPP6,SILENT,NM_130797.3:p.Lys241Lys/c.723A>G,aaA/aaG,LOW,,0.797324,0.8363,rs3807218,,,,,,chr7,154461112,154461112,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys177Lys/c.531A>G|801|DPP6|protein_coding|CODING|NM_001039350.2|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys179Lys/c.537A>G|803|DPP6|protein_coding|CODING|NM_001936.4|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys241Lys/c.723A>G|865|DPP6|protein_coding|CODING|NM_130797.3|7|1),intron_variant(MODIFIER|||c.442-58365A>G|758|DPP6|protein_coding|CODING|NM_001290252.1|5|1)",HepG2:H3K27me3,,,,0.8507,0.8386,0.9095,0.84,0.69,0.90,,,,,,,,,,,,,,,,
synonymous_variant,DPP6,SILENT,NM_130797.3:p.Pro632Pro/c.1896A>G,ccA/ccG,LOW,,0.58726,0.5625,rs2293353,,,,,,chr7,154667628,154667628,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro568Pro/c.1704A>G|801|DPP6|protein_coding|CODING|NM_001039350.2|20|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro525Pro/c.1575A>G|758|DPP6|protein_coding|CODING|NM_001290252.1|18|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro570Pro/c.1710A>G|803|DPP6|protein_coding|CODING|NM_001936.4|20|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro632Pro/c.1896A>G|865|DPP6|protein_coding|CODING|NM_130797.3|20|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4305,0.5937,0.5219,0.59,0.73,0.52,,,,,,,,,,,,,,,,
synonymous_variant,DPP6,SILENT,NM_130797.3:p.Val637Val/c.1911G>A,gtG/gtA,LOW,COSM3762520(1),0.177516,0.0159,rs2230064,,,,,,chr7,154667643,154667643,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val573Val/c.1719G>A|801|DPP6|protein_coding|CODING|NM_001039350.2|20|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val530Val/c.1590G>A|758|DPP6|protein_coding|CODING|NM_001290252.1|18|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val575Val/c.1725G>A|803|DPP6|protein_coding|CODING|NM_001936.4|20|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val637Val/c.1911G>A|865|DPP6|protein_coding|CODING|NM_130797.3|20|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2004,0.2133,0.3459,0.29,0.17,0.35,,,,,,,,,,,,,,,,
synonymous_variant,HTR5A,SILENT,NM_024012.3:p.Pro4Pro/c.12T>A,ccT/ccA,LOW,COSM150432(2),0.256989,0.3492,rs6320,,,,,,chr7,154862621,154862621,T,A,het,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro4Pro/c.12T>A|357|HTR5A|protein_coding|CODING|NM_024012.3|1|1),intron_variant(MODIFIER|||n.524+123A>T||HTR5AOS||NON_CODING|NR_038945.1|1|1)","GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2423,0.2075,0.2734,0.26,0.21,0.28,,,,,,,,,,,,,,,,
missense_variant,EN2,MISSENSE,NM_001427.3:p.Leu121Phe/c.361C>T,Ctc/Ttc,MODERATE,COSM3762526(2),0.409744,0.627,rs3735653,0.71(T),0.06(B),0.805(L),-0.9282(T),,chr7,155251433,155251433,C,T,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu121Phe/c.361C>T|333|EN2|protein_coding|CODING|NM_001427.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4571,0.3934,0.505,,,,,,1.000(P),-2.79(D),0.0000(T),0.178,1.501703,3.83,1.88,0.479000,0.247000,2.341000,0.062000,0.007000,0.996000,6.2937
synonymous_variant,EN2,SILENT,NM_001427.3:p.Leu318Leu/c.952T>C,Ttg/Ctg,LOW,,0.370407,0.2212,rs2361689,,,,,,chr7,155255332,155255332,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu318Leu/c.952T>C|333|EN2|protein_coding|CODING|NM_001427.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4284,0.438,0.334,0.36,0.42,0.33,,,,,,,,,,,,,,,,
synonymous_variant,RBM33,SILENT,NM_053043.2:p.Pro324Pro/c.972A>T,ccA/ccT,LOW,,0.642971,0.6885,rs7800753,,,,-1.0971(T),,chr7,155503920,155503920,A,T,het,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro324Pro/c.972A>T|1170|RBM33|protein_coding|CODING|NM_053043.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7883,0.4885,0.7485,0.66,0.54,0.72,,,0.051(P),,0.0000(T),.,-0.309196,5.27,-10.5,-0.379000,-3.561000,-3.203000,0.237000,0.000000,0.000000,9.8494
synonymous_variant,RBM33,SILENT,NM_053043.2:p.Leu532Leu/c.1594T>C,Ttg/Ctg,LOW,,0.317492,0.3125,rs2178428,,,,,,chr7,155530954,155530954,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu532Leu/c.1594T>C|1170|RBM33|protein_coding|CODING|NM_053043.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1779,0.2695,0.1869,0.29,0.48,0.19,,,,,,,,,,,,,,,,
missense_variant,RBM33,MISSENSE,NM_053043.2:p.Thr574Ala/c.1720A>G,Aca/Gca,MODERATE,,0.365415,0.3135,rs3735576,1(T),0.001(B),0.6(N),-0.9327(T),,chr7,155531080,155531080,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr574Ala/c.1720A>G|1170|RBM33|protein_coding|CODING|NM_053043.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1779,0.281,0.1869,0.33,0.61,0.20,,0.285215(N),0.001(P),1.01(T),0.0000(T),0.255,-0.814922,5.04,2.89,-0.213000,0.503000,1.813000,0.611000,0.531000,0.194000,7.3237
synonymous_variant,RBM33,SILENT,NM_053043.2:p.Pro730Pro/c.2190C>G,ccC/ccG,LOW,,0.0656949,0.0198,rs73167165,0.04(D),,,-1.0763(T),,chr7,155534653,155534653,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro730Pro/c.2190C>G|1170|RBM33|protein_coding|CODING|NM_053043.2|13|1),"H1ESC:H3K36me3,CD4:DNase1,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM12878:ELF1,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:PU1,GM06990:DNase1",,,,0.0225,0.0591,0.0388,0.07,0.14,0.04,,0.001411(N),0.000(P),1.62(T),0.0005(T),.,-0.260061,5.66,-5.38,-0.229000,-1.364000,-1.069000,0.262000,0.000000,0.104000,3.1545
synonymous_variant,LOC389602,SILENT,NM_001291913.1:p.Ser101Ser/c.303A>G,tcA/tcG,LOW,,0.70647,0.6002,rs2007015,,,,,,chr7,155755826,155755826,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser101Ser/c.303A>G|298|LOC389602|protein_coding|CODING|NM_001291913.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.7209,0.7911,0.8489,,,,,,,,,,,,,,,,,,,
missense_variant,LOC389602,MISSENSE,NM_001291913.1:p.Val268Ala/c.803T>C,gTc/gCc,MODERATE,,0.969649,1,rs1551630,0(D),,,-1.0414(T),,chr7,155757502,155757502,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val268Ala/c.803T>C|298|LOC389602|protein_coding|CODING|NM_001291913.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,1,0.9769,0.997,,,,,,,,0.0000(T),0.018,-0.469679,1.23,0.214,-0.338000,-0.357000,-1.034000,0.013000,0.001000,0.000000,4.0368
missense_variant,NOM1,MISSENSE,NM_138400.1:p.Arg779His/c.2336G>A,cGt/cAt,MODERATE,,0.447284,0.2778,rs2302445,0.9(T),0.01(B),0.175(N),-0.9330(T),,chr7,156761818,156761818,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg779His/c.2336G>A|860|NOM1|protein_coding|CODING|NM_138400.1|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.5231,0.5706,0.53,0.44,0.57,,0.027293(N),0.998(P),2.65(T),0.0000(T),0.061,0.296935,5.14,2.73,-0.332000,0.002000,1.128000,0.912000,0.960000,0.429000,1.4392
missense_variant,NOM1,MISSENSE,NM_138400.1:p.Val804Leu/c.2410G>C,Gta/Cta,MODERATE,,0.457268,0.2778,rs2302443,0.74(T),0.026(B),1.395(L),-0.9126(T),,chr7,156762224,156762224,G,C,het,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val804Leu/c.2410G>C|860|NOM1|protein_coding|CODING|NM_138400.1|11|1),splice_region_variant(LOW|||c.2410G>C|860|NOM1|protein_coding|CODING|NM_138400.1|11|1)","NHEK:H3K27ac,H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.5274,0.5706,0.54,0.48,0.57,,0.000339(D),0.001(P),2.66(T),0.0000(T),0.045,1.294211,5.41,4.52,0.467000,2.532000,1.076000,0.289000,0.958000,1.000000,3.8301
missense_variant,NOM1,MISSENSE,NM_138400.1:p.Val812Met/c.2434G>A,Gtg/Atg,MODERATE,COSM1568490(1),0.48143,0.2778,rs12919,0.55(T),0.003(B),-2.015(N),-1.0288(T),,chr7,156762248,156762248,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val812Met/c.2434G>A|860|NOM1|protein_coding|CODING|NM_138400.1|11|1),"NHEK:H3K27ac,H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.536,0.5706,0.56,0.55,0.57,,0.000012(N),1.000(P),2.8(T),0.0000(T),0.016,-1.421065,5.41,-3.13,-0.516000,-1.325000,-0.199000,0.280000,0.001000,0.011000,3.0886
synonymous_variant,PTPRN2,SILENT,NM_002847.3:p.Ser542Ser/c.1626T>C,agT/agC,LOW,,0.265974,0.1399,rs1130501,,,,,,chr7,157903538,157903538,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser542Ser/c.1626T>C|1015|PTPRN2|protein_coding|CODING|NM_002847.3|10|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser525Ser/c.1575T>C|998|PTPRN2|protein_coding|CODING|NM_130842.2|9|1),intron_variant(MODIFIER|||c.1556+22831T>C|986|PTPRN2|protein_coding|CODING|NM_130843.2|9|1)","K562:H3K27me3,HepG2:H3K36me3",,,,0.3027,0.2637,0.3777,0.33,0.25,0.37,,,,,,,,,,,,,,,,
synonymous_variant,PTPRN2,SILENT,NM_002847.3:p.Ser299Ser/c.897C>T,tcC/tcT,LOW,COSM452798(1),0.625,0.751,rs1130498,,,,,,chr7,157959636,157959636,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser299Ser/c.897C>T|1015|PTPRN2|protein_coding|CODING|NM_002847.3|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser282Ser/c.846C>T|998|PTPRN2|protein_coding|CODING|NM_130842.2|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser299Ser/c.897C>T|986|PTPRN2|protein_coding|CODING|NM_130843.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.6186,0.7392,0.7256,0.60,0.44,0.69,,,,,,,,,,,,,,,,
synonymous_variant,PTPRN2,SILENT,NM_002847.3:p.Pro218Pro/c.654G>A,ccG/ccA,LOW,COSM1755193(2),0.339058,0.4087,rs1130497,,,,,,chr7,157959879,157959879,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro218Pro/c.654G>A|1015|PTPRN2|protein_coding|CODING|NM_002847.3|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro201Pro/c.603G>A|998|PTPRN2|protein_coding|CODING|NM_130842.2|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro218Pro/c.654G>A|986|PTPRN2|protein_coding|CODING|NM_130843.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.363,0.4179,0.4533,0.34,0.17,0.43,,,,,,,,,,,,,,,,
missense_variant,PTPRN2,MISSENSE,NM_002847.3:p.Arg213His/c.638G>A,cGc/cAc,MODERATE,,0.338858,0.4087,rs1130496,0.24(T),"0.188,0.092,0.188,0.092,0.092(B,B,B,B,B)",0(N),-0.9971(T),,chr7,157959895,157959895,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg213His/c.638G>A|1015|PTPRN2|protein_coding|CODING|NM_002847.3|6|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg196His/c.587G>A|998|PTPRN2|protein_coding|CODING|NM_130842.2|5|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg213His/c.638G>A|986|PTPRN2|protein_coding|CODING|NM_130843.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.3609,0.4179,0.4543,0.34,0.17,0.43,,0.392177(N),1.000(P),"4.1,4.08,4.09,4.1,4.09(T,T,T,T,T)",0.0000(T),0.603,0.509606,4.59,3.71,-0.244000,0.936000,2.538000,0.055000,0.012000,0.601000,10.7818
missense_variant,PTPRN2,MISSENSE,NM_002847.3:p.Ser208Pro/c.622T>C,Tcc/Ccc,MODERATE,COSM3762542(1),0.871206,0.874,rs1130495,0.25(T),"0.0,0.0,0.001,0.0,0.0(B,B,B,B,B)",-0.55(N),-1.0302(T),,chr7,157959911,157959911,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser208Pro/c.622T>C|1015|PTPRN2|protein_coding|CODING|NM_002847.3|6|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser191Pro/c.571T>C|998|PTPRN2|protein_coding|CODING|NM_130842.2|5|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser208Pro/c.622T>C|986|PTPRN2|protein_coding|CODING|NM_130843.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.7975,0.902,0.8569,0.86,0.90,0.84,,0.915873(N),1.000(P),"3.93,3.93,3.93,3.94,3.92(T,T,T,T,T)",0.0000(T),0.078,-0.210443,4.59,-9.18,-0.222000,-2.314000,-0.798000,0.017000,0.000000,0.000000,2.8313
missense_variant,ESYT2,MISSENSE,NM_020728.2:p.Tyr414Cys/c.1241A>G,tAt/tGt,MODERATE,,0.00259585,0,rs34213199,0.13(T),"0.983,0.991(D,D)",1.32(L),-0.4000(T),,chr7,158557372,158557372,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr414Cys/c.1241A>G|893|ESYT2|protein_coding|CODING|NM_020728.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.0109,0.00,0.00,0.01,,0.000000(D),1.000(D),"-0.41,-0.41(T,T)",0.3133(T),0.896,4.097481,5.8,5.8,0.533000,2.209000,4.898000,0.668000,0.836000,1.000000,15.3361
missense_variant,WDR60,MISSENSE,NM_018051.4:p.Asn225Lys/c.675C>G,aaC/aaG,MODERATE,,0.995807,1,rs2709859,0.83(T),0.0(B),-0.805(N),-1.0124(T),,chr7,158672476,158672476,C,G,hom,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn225Lys/c.675C>G|1066|WDR60|protein_coding|CODING|NM_018051.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9957,0.994,0.99,1.00,0.99,,0.833445(N),1.000(P),2.12(T),0.0000(T),0.019,-1.360103,4.64,2.63,-0.127000,0.486000,0.890000,0.293000,0.004000,0.048000,7.6554
synonymous_variant,WDR60,SILENT,NM_018051.4:p.Lys691Lys/c.2073A>G,aaA/aaG,LOW,,0.886182,0.9464,rs2730238,,,,,,chr7,158715219,158715219,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys691Lys/c.2073A>G|1066|WDR60|protein_coding|CODING|NM_018051.4|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8466,0.9135,0.8121,0.85,0.91,0.82,,,,,,,,,,,,,,,,
missense_variant,FBXO25,MISSENSE,NM_183421.1:p.Arg38His/c.113G>A,cGt/cAt,MODERATE,COSM3763328(2),0.567891,0.4127,rs10090550,0.54(T),"0.001,0.001(B,B)",0(N),-1.0576(T),,chr8,363192,363192,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg38His/c.113G>A|358|FBXO25|protein_coding|CODING|NM_183420.1|2|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg38His/c.113G>A|367|FBXO25|protein_coding|CODING|NM_183421.1|2|1),5_prime_UTR_variant(MODIFIER||18166|c.-39G>A|291|FBXO25|protein_coding|CODING|NM_012173.3|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4969,0.415,0.3917,0.53,0.86,0.37,,0.214398(N),1.000(P),"2.3,2.3,2.3(T,T,T)",0.0000(T),0.305,2.313914,3.6,1.04,-0.945000,-0.009000,0.496000,0.929000,0.002000,0.006000,3.2558
synonymous_variant,ERICH1,SILENT,NM_207332.1:p.Leu376Leu/c.1128T>C,ctT/ctC,LOW,,,,rs2271263,0(D),,,-1.0407(T),,chr8,618728,618728,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu376Leu/c.1128T>C|443|ERICH1|protein_coding|CODING|NM_207332.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.85,0.81,0.87,,0.000174(D),0.000(P),-0.4(T),0.0000(T),.,-0.715090,5.55,-1.26,0.533000,-0.199000,-0.445000,0.006000,0.119000,0.129000,5.6318
synonymous_variant,ERICH1,SILENT,NM_207332.1:p.Ala253Ala/c.759C>T,gcC/gcT,LOW,COSM3982558(1),0.197484,0.0675,rs55783038,,,,-0.9316(T),,chr8,623593,623593,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala253Ala/c.759C>T|443|ERICH1|protein_coding|CODING|NM_207332.1|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3006,0.2435,0.4066,0.29,0.09,0.40,,,1.000(P),,0.0000(T),.,-0.045708,1.05,0.0893,0.543000,0.005000,0.004000,0.001000,0.000000,0.005000,1.7477
missense_variant,ERICH1,MISSENSE,NM_207332.1:p.Arg149Gln/c.446G>A,cGa/cAa,MODERATE,,0.00898562,0,rs118014343,0.68(T),"0.002,0.001,0.002(B,B,B)",0.69(N),-1.0113(T),,chr8,623906,623906,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg149Gln/c.446G>A|443|ERICH1|protein_coding|CODING|NM_207332.1|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0101,0.0328,0.02,0.01,0.03,,0.089450(N),1.000(N),"1.54,1.56(T,T)",0.0126(T),0.04,-0.355933,5.98,1.06,-2.129000,-0.082000,-0.113000,0.006000,0.002000,0.564000,4.1113
missense_variant,DLGAP2,MISSENSE,NM_004745.4:p.Pro384Gln/c.1151C>A,cCa/cAa,MODERATE,COSM4162876(1),0.460663,0.4484,rs2301963,0.03(D),"0.636,0.372(P,B)",2.2(M),-0.8911(T),,chr8,1514009,1514009,C,A,het,"missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro384Gln/c.1151C>A|961|DLGAP2|protein_coding|CODING|NM_001277161.1|3|1),missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro384Gln/c.1151C>A|975|DLGAP2|protein_coding|CODING|NM_004745.4|3|1),intron_variant(MODIFIER|||n.358-105G>T||DLGAP2-AS1||NON_CODING|NR_103863.1|3|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5613,0.5749,0.4503,0.42,0.37,0.45,,0.002603(N),0.561(P),1.98(T),0.0000(T),0.184,2.695380,4.55,4.55,0.585000,2.238000,3.412000,0.107000,0.049000,0.559000,17.7159
synonymous_variant,DLGAP2,SILENT,NM_004745.4:p.Glu598Glu/c.1794A>G,gaA/gaG,LOW,,0.533147,0.5556,rs2235112,,,,-1.0338(T),,chr8,1616718,1616718,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu598Glu/c.1794A>G|961|DLGAP2|protein_coding|CODING|NM_001277161.1|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu598Glu/c.1794A>G|975|DLGAP2|protein_coding|CODING|NM_004745.4|6|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5061,0.4611,0.2594,0.39,0.67,0.26,,,0.000(P),,0.0000(T),.,-0.787397,5.52,-3.57,-1.115000,-1.004000,0.236000,0.082000,0.030000,0.953000,15.4647
synonymous_variant,ARHGEF10,SILENT,NM_014629.2:p.Pro47Pro/c.141A>C,ccA/ccC,LOW,,0.305711,0.2421,rs4875950,,,,,,chr8,1806229,1806229,A,C,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro47Pro/c.141A>C|1344|ARHGEF10|protein_coding|CODING|NM_014629.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HUVEC:DNase1,GM12878:ZEB1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4182,0.2853,0.2714,0.30,0.33,0.28,,,,,,,,,,,,,,,,
missense_variant,ARHGEF10,MISSENSE,NM_014629.2:p.Leu370Phe/c.1110G>C,ttG/ttC,MODERATE,COSM150438(1),0.168331,0.2907,rs9657362,0.42(T),"0.802,0.342,0.894,0.543(P,B,P,P)",1.525(L),-1.0398(T),,chr8,1833801,1833801,G,C,het,missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu370Phe/c.1110G>C|1344|ARHGEF10|protein_coding|CODING|NM_014629.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3231,0.1239,0.1352,0.11,0.04,0.14,,0.070730(N),0.787(P),"0.09,0.19,0.09,-0.17,0.08,0.08,0.29(T,T,T,T,T,T,T)",0.0000(T),0.272,0.973589,5.12,-4.8,-0.740000,-1.240000,0.685000,0.012000,0.013000,0.999000,8.8816
synonymous_variant,ARHGEF10,SILENT,NM_014629.2:p.Tyr685Tyr/c.2055T>C,taT/taC,LOW,COSM3982453(2),0.156949,0.1746,rs2294038,,,,,,chr8,1857548,1857548,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr685Tyr/c.2055T>C|1344|ARHGEF10|protein_coding|CODING|NM_014629.2|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.1329,0.2248,0.171,0.15,0.13,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ARHGEF10,SILENT,NM_014629.2:p.Ser1246Ser/c.3738G>A,tcG/tcA,LOW,COSM3982457(2),0.368011,0.5714,rs3735876,,,,,,chr8,1905132,1905132,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1246Ser/c.3738G>A|1344|ARHGEF10|protein_coding|CODING|NM_014629.2|29|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4274,0.2349,0.4016,0.35,0.27,0.39,,,,,,,,,,,,,,,,
missense_variant,MYOM2,MISSENSE,NM_003970.3:p.Val321Leu/c.961G>T,Gtg/Ttg,MODERATE,COSM3763242(1),0.279952,0.3601,rs2272720,0.43(T),0.017(B),1.345(L),-0.9853(T),,chr8,2021421,2021421,G,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val321Leu/c.961G>T|1465|MYOM2|protein_coding|CODING|NM_003970.3|10|1),splice_region_variant(LOW|||c.961G>T|1465|MYOM2|protein_coding|CODING|NM_003970.3|10|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3425,0.379,0.4046,0.32,0.10,0.43,,0.012422(N),0.000(P),-0.23(T),0.0000(T),0.152,0.904279,4.63,4.63,0.655000,2.093000,5.607000,0.015000,0.666000,1.000000,17.4931
missense_variant,MYOM2,MISSENSE,NM_003970.3:p.Thr563Met/c.1688C>T,aCg/aTg,MODERATE,,0.00179712,0,rs61732774,0.14(T),0.031(B),1.21(L),-1.0083(T),,chr8,2037874,2037874,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr563Met/c.1688C>T|1465|MYOM2|protein_coding|CODING|NM_003970.3|15|1),"CD4:H3K18ac,CD4:H2BK5ac,CD4:DNase1,CD4:H2BK20ac,CD4:H3K27ac",,,,0.0051,0,0.004,0.00,0.00,0.00,,0.047724(N),0.699(D),0.64(T),0.0660(T),0.518,0.441892,5.74,0.766,0.563000,0.058000,1.188000,0.025000,0.197000,0.482000,8.7273
synonymous_variant,MYOM2,SILENT,NM_003970.3:p.Ala651Ala/c.1953C>T,gcC/gcT,LOW,,0.137181,0.1488,rs2235122,,,,,,chr8,2040298,2040298,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala651Ala/c.1953C>T|1465|MYOM2|protein_coding|CODING|NM_003970.3|16|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1697,0.0735,0.162,0.14,0.11,0.16,,,,,,,,,,,,,,,,
synonymous_variant,MYOM2,SILENT,NM_003970.3:p.Ile664Ile/c.1992T>C,atT/atC,LOW,,0.983027,1,rs6420202,,,,,,chr8,2040337,2040337,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile664Ile/c.1992T>C|1465|MYOM2|protein_coding|CODING|NM_003970.3|16|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,0.999,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,MYOM2,MISSENSE,NM_003970.3:p.Thr776Met/c.2327C>T,aCg/aTg,MODERATE,,0.165935,0.2629,rs2294066,0.04(D),0.967(D),2.32(M),-1.1151(T),,chr8,2046700,2046700,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr776Met/c.2327C>T|1465|MYOM2|protein_coding|CODING|NM_003970.3|19|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1084,0.1945,0.166,0.14,0.13,0.14,,0.001820(N),0.666(P),"0.32,0.32(T,T)",0.0000(T),0.275,1.456847,5.5,3.72,-0.291000,0.700000,0.029000,0.016000,0.578000,0.005000,11.1141
synonymous_variant,MYOM2,SILENT,NM_003970.3:p.Val862Val/c.2586A>C,gtA/gtC,LOW,,0.954273,1,rs4876227,,,,,,chr8,2048811,2048811,A,C,hom,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val862Val/c.2586A>C|1465|MYOM2|protein_coding|CODING|NM_003970.3|20|1),"CD4:H4K91ac,GM12878:H3K36me3,HepG2:H3K27me3",,,,1,0.9899,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,MYOM2,MISSENSE,NM_003970.3:p.Asn869Ser/c.2606A>G,aAc/aGc,MODERATE,COSM454287(3),0.460463,0.4048,rs968381,0.22(T),0.02(B),0.985(L),-0.9505(T),,chr8,2048831,2048831,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn869Ser/c.2606A>G|1465|MYOM2|protein_coding|CODING|NM_003970.3|20|1),"CD4:H4K91ac,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4192,0.3573,0.335,0.44,0.64,0.33,,0.001422(N),1.000(P),"0.43,0.43(T,T)",0.0000(T),0.359,0.356400,5.55,4.38,0.523000,0.937000,3.935000,0.004000,0.016000,0.543000,11.4648
synonymous_variant,MYOM2,SILENT,NM_003970.3:p.Gln923Gln/c.2769A>G,caA/caG,LOW,COSM3982463(1),0.173922,0.2857,rs17684416,,,,,,chr8,2054066,2054066,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln923Gln/c.2769A>G|1465|MYOM2|protein_coding|CODING|NM_003970.3|22|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1503,0.2046,0.1799,0.14,0.09,0.16,,,,,,,,,,,,,,,,
synonymous_variant,MYOM2,SILENT,NM_003970.3:p.Asn1052Asn/c.3156C>T,aaC/aaT,LOW,COSM3763243(1),0.142772,0.2827,rs2280897,,,,,,chr8,2057298,2057298,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1052Asn/c.3156C>T|1465|MYOM2|protein_coding|CODING|NM_003970.3|25|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.137,0.1643,0.1441,0.11,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,MYOM2,MISSENSE,NM_003970.3:p.Val1168Ala/c.3503T>C,gTt/gCt,MODERATE,,0.096845,0.1865,rs17854780,0.79(T),0.009(B),1.175(L),-0.9336(T),,chr8,2071174,2071174,T,C,het,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1168Ala/c.3503T>C|1465|MYOM2|protein_coding|CODING|NM_003970.3|29|1),,,,,0.0726,0.0836,0.1382,0.09,0.04,0.12,,0.205926(N),1.000(P),"2.73,2.73(T,T)",0.0000(T),0.063,-1.520068,5.11,-0.659,0.460000,-0.203000,0.323000,0.053000,0.020000,0.069000,10.6101
synonymous_variant,MYOM2,SILENT,NM_003970.3:p.Thr1432Thr/c.4296A>G,acA/acG,LOW,,0.240815,0.2292,rs1063523,,,,,,chr8,2092803,2092803,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1432Thr/c.4296A>G|1465|MYOM2|protein_coding|CODING|NM_003970.3|37|1),"GM12878:H3K36me3,K562:H3K27me3,CD4:H3K4me1,HeLa-S3:H3K27me3,CD4:H2BK120ac,HepG2:H3K27me3",,,,0.1922,0.2435,0.2883,0.26,0.26,0.26,,,,,,,,,,,,,,,,
synonymous_variant,CSMD1,SILENT,NM_033225.5:p.Ser2858Ser/c.8574G>C,tcG/tcC,LOW,COSM454405(1),0.750998,0.8046,rs667595,,,,-1.0421(T),,chr8,2832139,2832139,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser2858Ser/c.8574G>C|3564|CSMD1|protein_coding|CODING|NM_033225.5|56|1),,,,,0.7178,0.6614,0.8231,0.80,0.77,0.81,,,0.000(P),,0.0000(T),.,-1.299225,5.81,-11.6,-2.245000,-5.474000,-2.838000,0.003000,0.001000,0.000000,4.3819
missense_variant,CSMD1,MISSENSE,NM_033225.5:p.Thr2551Met/c.7652C>T,aCg/aTg,MODERATE,,0.692891,0.7907,rs6558702,0.23(T),"0.206,0.009(B,B)",,-0.9791(T),,chr8,2909992,2909992,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr2551Met/c.7652C>T|3564|CSMD1|protein_coding|CODING|NM_033225.5|50|1),H1ESC:H3K27me3,,,,0.7086,0.6167,0.7863,0.73,0.65,0.77,,0.154264(N),1.000(P),"-0.26,-0.26,-0.26,-0.26(T,T,T,T)",0.0000(T),0.204,-0.710287,5.32,3.46,-0.165000,0.678000,0.961000,0.012000,0.000000,0.000000,1.9545
synonymous_variant,CSMD1,SILENT,NM_033225.5:p.Leu2542Leu/c.7624T>C,Ttg/Ctg,LOW,,0.982628,1,rs6558703,,,,-1.0204(T),,chr8,2910020,2910020,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu2542Leu/c.7624T>C|3564|CSMD1|protein_coding|CODING|NM_033225.5|50|1),H1ESC:H3K27me3,,,,1,0.9914,1,0.98,0.95,1.00,,,1.000(P),,0.0000(T),.,-0.779264,5.32,-2.49,-0.726000,-1.012000,-0.048000,0.228000,0.000000,0.000000,7.6001
synonymous_variant,CSMD1,SILENT,NM_033225.5:p.Glu2523Glu/c.7569G>A,gaG/gaA,LOW,,0.0169728,0.0397,rs35071327,,,,-0.9938(T),,chr8,2910075,2910075,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2523Glu/c.7569G>A|3564|CSMD1|protein_coding|CODING|NM_033225.5|50|1),H1ESC:H3K27me3,,,,0.0184,0.0043,0.0219,0.02,0.01,0.02,,,1.000(D),,0.1004(T),.,-0.578956,5.32,0.721,0.655000,0.277000,0.518000,0.151000,0.993000,0.999000,6.7218
synonymous_variant,CSMD1,SILENT,NM_033225.5:p.Glu2277Glu/c.6831A>G,gaA/gaG,LOW,,0.839657,0.9464,rs3824271,,,,-1.0100(T),,chr8,2965244,2965244,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu2277Glu/c.6831A>G|3564|CSMD1|protein_coding|CODING|NM_033225.5|45|1),K562:H3K36me3,,,,0.9059,0.8545,0.7952,0.79,0.75,0.81,,,0.000(P),,0.0000(T),.,-0.263931,5.24,-1.26,0.450000,-0.216000,0.183000,0.247000,0.996000,0.995000,9.8063
synonymous_variant,CSMD1,SILENT,NM_033225.5:p.Leu1190Leu/c.3570G>A,ctG/ctA,LOW,COSM1456687(2),0.125399,0.1081,rs2161752,,,,-1.0470(T),,chr8,3200877,3200877,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1190Leu/c.3570G>A|3564|CSMD1|protein_coding|CODING|NM_033225.5|23|1),,,,,0.1002,0.1182,0.172,0.16,0.13,0.18,,,0.000(P),,0.0005(T),.,0.868721,5.86,4.99,0.650000,1.626000,0.482000,0.751000,1.000000,0.996000,9.3779
synonymous_variant,CSMD1,SILENT,NM_033225.5:p.Leu847Leu/c.2541G>A,ctG/ctA,LOW,COSM1456709(2),0.29972,0.0972,rs3802303,,,,-1.0792(T),,chr8,3253768,3253768,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu847Leu/c.2541G>A|3564|CSMD1|protein_coding|CODING|NM_033225.5|17|1),,,,,0.2894,0.3386,0.4235,0.38,0.34,0.41,,,0.000(P),,0.0000(T),.,-1.367594,4.93,-9.86,-4.636000,-4.229000,-3.102000,0.032000,0.035000,0.000000,5.1615
synonymous_variant,CSMD1,SILENT,NM_033225.5:p.Gln634Gln/c.1902G>A,caG/caA,LOW,,0.603035,0.3383,rs10088378,,,,-0.9666(T),,chr8,3265590,3265590,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln634Gln/c.1902G>A|3564|CSMD1|protein_coding|CODING|NM_033225.5|14|1),,,,,0.637,0.6527,0.67,0.67,0.68,0.67,,,0.000(P),,0.0000(T),.,-0.460746,5.23,2.4,-1.890000,0.218000,0.210000,0.322000,1.000000,0.969000,14.2322
synonymous_variant,MCPH1,SILENT,NM_024596.3:p.Val76Val/c.228G>T,gtG/gtT,LOW,,0.678115,0.7808,rs2305022,,,,,,chr8,6272399,6272399,G,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val76Val/c.228G>T|610|MCPH1|protein_coding|CODING|NM_001172574.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val76Val/c.228G>T|562|MCPH1|protein_coding|CODING|NM_001172575.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val76Val/c.228G>T|835|MCPH1|protein_coding|CODING|NM_024596.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7556,0.8256,0.7913,0.70,0.47,0.80,,,,,,,,,,,,,,,,
missense_variant,MCPH1,MISSENSE,NM_024596.3:p.Arg171Ser/c.513G>T,agG/agT,MODERATE,,0.916933,0.9851,rs2442513,0.79(T),"0.0,0.0(B,B)",-1.245(N),-1.0323(T),,chr8,6296550,6296550,G,T,hom,"missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg171Ser/c.513G>T|610|MCPH1|protein_coding|CODING|NM_001172574.1|6|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg171Ser/c.513G>T|835|MCPH1|protein_coding|CODING|NM_024596.3|6|1),intron_variant(MODIFIER|||c.436+2867G>T|562|MCPH1|protein_coding|CODING|NM_001172575.1|5|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9663,0.9827,0.9871,0.93,0.80,0.98,,0.630898(N),1.000(P),"3.78,3.46(T,T)",0.0000(T),0.082,-0.320674,3.64,-4.59,-0.346000,-1.007000,-0.292000,0.036000,0.000000,0.000000,5.881
missense_variant,MCPH1,MISSENSE,NM_024596.3:p.Asp314His/c.940G>C,Gac/Cac,MODERATE,,0.644768,0.7639,rs930557,0.06(T),"0.992,0.972,0.969(D,D,D)",2.19(M),-1.0550(T),,chr8,6302183,6302183,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp314His/c.940G>C|835|MCPH1|protein_coding|CODING|NM_024596.3|8|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp314His/c.940G>C|610|MCPH1|protein_coding|CODING|NM_001172574.1|8|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp266His/c.796G>C|562|MCPH1|protein_coding|CODING|NM_001172575.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000020903.1,,0.7751,0.8256,0.7982,0.68,0.37,0.81,,0.491750(N),1.000(P),"2.69,2.69,2.69(T,T,T)",0.0000(T),0.166,1.759211,5.5,2.68,0.655000,0.345000,0.311000,0.222000,0.000000,0.000000,8.5071
missense_variant,MCPH1,MISSENSE,NM_024596.3:p.Asp392Gly/c.1175A>G,gAc/gGc,MODERATE,,0.994409,1,rs2515569,0.71(T),"0.0,0.0,0.0(B,B,B)",-1.15(N),-0.9227(T),,chr8,6302418,6302418,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp392Gly/c.1175A>G|835|MCPH1|protein_coding|CODING|NM_024596.3|8|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp392Gly/c.1175A>G|610|MCPH1|protein_coding|CODING|NM_001172574.1|8|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp344Gly/c.1031A>G|562|MCPH1|protein_coding|CODING|NM_001172575.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000082198.1,,1,1,1,0.99,0.98,1.00,,0.000192(N),1.000(P),"2.99,2.99,2.99(T,T,T)",0.0000(T),0.083,0.024393,5.77,-11.5,-1.595000,-4.375000,-3.530000,0.000000,0.000000,0.000000,8.686
synonymous_variant,MCPH1,SILENT,NM_024596.3:p.Thr594Thr/c.1782G>A,acG/acA,LOW,,0.132188,0.0268,rs2584,,,,,,chr8,6303025,6303025,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr594Thr/c.1782G>A|835|MCPH1|protein_coding|CODING|NM_024596.3|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr594Thr/c.1782G>A|610|MCPH1|protein_coding|CODING|NM_001172574.1|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr546Thr/c.1638G>A|562|MCPH1|protein_coding|CODING|NM_001172575.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1043,0.245,0.338,0.25,0.07,0.33,,,,,,,,,,,,,,,,
synonymous_variant,ANGPT2,SILENT,NM_001147.2:p.Ala136Ala/c.408G>C,gcG/gcC,LOW,COSM3763369(1),0.374401,0.4464,rs6559167,,,,,,chr8,6389889,6389889,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala136Ala/c.408G>C|495|ANGPT2|protein_coding|CODING|NM_001118887.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala136Ala/c.408G>C|496|ANGPT2|protein_coding|CODING|NM_001147.2|2|1),intron_variant(MODIFIER|||c.2214+32439C>G|835|MCPH1|protein_coding|CODING|NM_024596.3|12|1),intron_variant(MODIFIER|||c.289-4692G>C|444|ANGPT2|protein_coding|CODING|NM_001118888.1|1|1)","HUVEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5143,0.2896,0.3022,,,,,,,,,,,,,,,,,,,
synonymous_variant,MCPH1,SILENT,NM_024596.3:p.Ser742Ser/c.2226C>T,agC/agT,LOW,COSM3763372(1),0.452875,0.6776,rs2912010,,,,,,chr8,6478986,6478986,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser742Ser/c.2226C>T|835|MCPH1|protein_coding|CODING|NM_024596.3|13|1),downstream_gene_variant(MODIFIER||659|||MIR8055||NON_CODING|NR_107022.1||1),non_coding_exon_variant(MODIFIER|||n.400G>A||LOC100507530||NON_CODING|NR_125386.1|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.3516,0.4076,0.37,0.35,0.39,,,,,,,,,,,,,,,,
missense_variant,MCPH1,MISSENSE,NM_024596.3:p.Ala761Val/c.2282C>T,gCg/gTg,MODERATE,COSM3763373(1),0.482029,0.6716,rs1057090,1(T),,,-1.0034(T),,chr8,6479042,6479042,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala761Val/c.2282C>T|835|MCPH1|protein_coding|CODING|NM_024596.3|13|1),downstream_gene_variant(MODIFIER||603|||MIR8055||NON_CODING|NR_107022.1||1),non_coding_exon_variant(MODIFIER|||n.344G>A||LOC100507530||NON_CODING|NR_125386.1|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000020900.1,,0.4847,0.3646,0.4076,0.41,0.44,0.39,,0.016817(N),1.000(P),-2.34(D),0.0000(T),0.036,-0.667396,5.38,-8.27,-0.360000,-1.782000,-0.677000,0.007000,0.000000,0.000000,8.9087
synonymous_variant,MCPH1,SILENT,NM_024596.3:p.Ala806Ala/c.2418C>A,gcC/gcA,LOW,COSM3763374(2),0.39377,0.4375,rs2912016,,,,,,chr8,6479178,6479178,C,A,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala806Ala/c.2418C>A|835|MCPH1|protein_coding|CODING|NM_024596.3|13|1),downstream_gene_variant(MODIFIER||467|||MIR8055||NON_CODING|NR_107022.1||1),intron_variant(MODIFIER|||n.230-22G>T||LOC100507530||NON_CODING|NR_125386.1|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4039,0.2925,0.3618,0.36,0.41,0.34,,,,,,,,,,,,,,,,
missense_variant,XKR5,MISSENSE,NM_207411.4:p.Met69Val/c.205A>G,Atg/Gtg,MODERATE,,0.669329,0.5516,rs2741098,,,,,,chr8,6690276,6690276,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met69Val/c.205A>G|686|XKR5|protein_coding|CODING|NM_207411.4|2|1),5_prime_UTR_variant(MODIFIER||9086|c.-423A>G|523|XKR5|protein_coding|CODING|NM_001289973.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7096,0.513,0.5368,0.63,0.84,0.53,,,,,,,,,,,,,,,,
synonymous_variant,XKR5,SILENT,NM_207411.4:p.Glu16Glu/c.48G>A,gaG/gaA,LOW,,0.516174,0.5645,rs2977806,,,,,,chr8,6692968,6692968,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu16Glu/c.48G>A|686|XKR5|protein_coding|CODING|NM_207411.4|1|1),5_prime_UTR_variant(MODIFIER||11778|c.-580G>A|523|XKR5|protein_coding|CODING|NM_001289973.1|1|1),upstream_gene_variant(MODIFIER||108|||GS1-24F4.2||NON_CODING|NR_045217.1||1)","H1ESC:PolII,H1ESC:H3K9ac,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,IMR90:H3K4me3",,,,0.5971,0.4294,0.5308,0.63,0.62,0.64,,,,,,,,,,,,,,,,
synonymous_variant,DEFA4,SILENT,NM_001925.1:p.Gly85Gly/c.255T>C,ggT/ggC,LOW,COSM3982565(2),0.461462,0.4593,rs2738100,,,,,,chr8,6793581,6793581,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly85Gly/c.255T>C|97|DEFA4|protein_coding|CODING|NM_001925.1|3|1),"GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HeLa-S3:Nrsf,H1ESC:Nrsf,HepG2:H3K27me3",,,,0.4775,0.2853,0.3648,0.43,0.53,0.38,,,,,,,,,,,,,,,,
missense_variant,SPAG11B,MISSENSE,NM_058201.2:p.His84Arg/c.251A>G,cAt/cGt,MODERATE,,,,rs1042797,0.5(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9167(T),,chr8,7308386,7308386,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His84Arg/c.251A>G|133|SPAG11B|protein_coding|CODING|NM_058201.2|3|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His31Arg/c.92A>G|80|SPAG11B|protein_coding|CODING|NM_058207.2|2|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His84Arg/c.251A>G|108|SPAG11B|protein_coding|CODING|NM_058200.2|3|1),3_prime_UTR_variant(MODIFIER||15|c.*15A>G|103|SPAG11B|protein_coding|CODING|NM_016512.3|4|1),3_prime_UTR_variant(MODIFIER||15|c.*15A>G|50|SPAG11B|protein_coding|CODING|NM_058206.3|3|1),intron_variant(MODIFIER|||c.215-2815A>G|82|SPAG11B|protein_coding|CODING|NM_058202.2|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(P),"2.32,2.32(T,T)",0.0000(T),0.023,-0.956540,3.44,-1.93,-2.670000,-0.352000,0.263000,0.067000,0.007000,0.109000,1.4014
missense_variant,SGK223,MISSENSE,NM_001080826.2:p.Gly1222Ser/c.3664G>A,Ggc/Agc,MODERATE,COSM4163088(1),0.481829,0.5665,rs13269488,0.2(T),0.906(P),1.125(L),-0.9166(T),,chr8,8176221,8176221,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1222Ser/c.3664G>A|1402|SGK223|protein_coding|CODING|NM_001080826.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,K562:ELF1,K562:Egr1,K562:Rad21,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1,H1ESC:CTCF",,,,0.4346,0.5058,0.5229,0.51,0.44,0.54,,0.064233(N),1.000(P),"-0.08,-0.08(T,T)",0.0000(T),0.159,0.457070,4.95,0.737,0.467000,0.252000,-0.622000,0.060000,0.137000,0.000000,3.5532
missense_variant,SGK223,MISSENSE,NM_001080826.2:p.Ala1111Thr/c.3331G>A,Gcg/Acg,MODERATE,COSM3763417(2),0.298722,0.5446,rs12549973,0.47(T),0.09(B),1.1(L),-0.9172(T),,chr8,8176554,8176554,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala1111Thr/c.3331G>A|1402|SGK223|protein_coding|CODING|NM_001080826.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,K562:Znf263,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.3558,0.3429,0.2505,0.22,0.11,0.28,,0.489775(N),1.000(P),"-0.17,-0.17(T,T)",0.0000(T),0.127,2.145121,5.48,3.53,0.467000,0.661000,0.043000,0.812000,0.001000,0.000000,10.1238
synonymous_variant,SGK223,SILENT,NM_001080826.2:p.Ala614Ala/c.1842C>G,gcC/gcG,LOW,COSM3763419(2),0.425719,0.6409,rs4840952,,,,,,chr8,8234077,8234077,G,C,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala614Ala/c.1842C>G|1402|SGK223|protein_coding|CODING|NM_001080826.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5194,0.4222,0.2783,0.28,0.29,0.27,,,,,,,,,,,,,,,,
missense_variant,SGK223,MISSENSE,NM_001080826.2:p.Ser576Cys/c.1727C>G,tCt/tGt,MODERATE,COSM3763420(2),0.454473,0.6409,rs4840953,0.18(T),0.001(B),0.41(N),-0.9138(T),,chr8,8234192,8234192,G,C,hom,missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser576Cys/c.1727C>G|1402|SGK223|protein_coding|CODING|NM_001080826.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5194,0.4323,0.3022,0.29,0.32,0.28,,0.008962(N),1.000(P),"0.29,0.29(T,T)",0.0000(T),0.216,1.297067,4.92,1.93,0.655000,1.199000,0.024000,0.045000,0.016000,0.000000,4.1097
synonymous_variant,SGK223,SILENT,NM_001080826.2:p.Pro567Pro/c.1701G>A,ccG/ccA,LOW,COSM3763421(1),0.453674,0.6409,rs4840954,,,,,,chr8,8234218,8234218,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro567Pro/c.1701G>A|1402|SGK223|protein_coding|CODING|NM_001080826.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5204,0.4323,0.3002,0.29,0.32,0.27,,,,,,,,,,,,,,,,
missense_variant,SGK223,MISSENSE,NM_001080826.2:p.Pro567Leu/c.1700C>T,cCg/cTg,MODERATE,COSM3763423(2),0.453275,0.6409,rs4840955,0.05(D),0.023(B),1.935(M),-0.8987(T),,chr8,8234219,8234219,G,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro567Leu/c.1700C>T|1402|SGK223|protein_coding|CODING|NM_001080826.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5204,0.4323,0.3002,0.29,0.32,0.27,,0.000003(D),0.422(P),"0.23,0.23(T,T)",0.0000(T),0.346,2.440334,4.91,4.91,0.563000,2.446000,4.250000,0.002000,0.040000,1.000000,7.8195
missense_variant,SGK223,MISSENSE,NM_001080826.2:p.Arg402Gln/c.1205G>A,cGg/cAg,MODERATE,COSM3763424(1),0.455871,0.6409,rs3896980,0.21(T),0.042(B),1.79(L),-0.9232(T),,chr8,8234714,8234714,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg402Gln/c.1205G>A|1402|SGK223|protein_coding|CODING|NM_001080826.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5225,0.4366,0.3052,0.32,0.36,0.30,,0.129440(N),1.000(P),"0.39,0.39(T,T)",0.0000(T),0.173,0.936192,5.02,1.03,-0.136000,0.644000,0.001000,0.307000,0.016000,0.000000,0.8844
missense_variant,MFHAS1,MISSENSE,NM_004225.2:p.Leu892Pro/c.2675T>C,cTt/cCt,MODERATE,,0.969449,1,rs429433,0.49(T),0.0(B),-0.805(N),-0.9596(T),,chr8,8747894,8747894,A,G,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu892Pro/c.2675T>C|1052|MFHAS1|protein_coding|CODING|NM_004225.2|1|1),"CD4:H3K9me1,H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,CD4:H3K4me3,IMR90:H3K36me3,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.9888,0.9568,0.9523,0.95,0.95,0.95,,0.000000(N),0.003(P),1.52(T),0.0000(T),0.095,1.203017,5.04,5.04,-0.119000,1.387000,6.135000,0.976000,0.999000,1.000000,12.9212
synonymous_variant,MFHAS1,SILENT,NM_004225.2:p.Leu280Leu/c.840C>G,ctC/ctG,LOW,COSM3750137(2),0.142372,0.0079,rs3748141,,,,,,chr8,8749729,8749729,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu280Leu/c.840C>G|1052|MFHAS1|protein_coding|CODING|NM_004225.2|1|1),"NHEK:CTCF,H1ESC:H3K36me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1227,0.1138,0.1531,0.18,0.25,0.14,,,,,,,,,,,,,,,,
synonymous_variant,MFHAS1,SILENT,NM_004225.2:p.Leu34Leu/c.102T>C,ctT/ctC,LOW,COSM3750138(1),0.16254,0.001,rs1062988,,,,,,chr8,8750467,8750467,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu34Leu/c.102T>C|1052|MFHAS1|protein_coding|CODING|NM_004225.2|1|1),"NHEK:H3K9ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.1278,0.1196,0.1521,0.15,0.22,0.11,,,,,,,,,,,,,,,,
missense_variant,ERI1,MISSENSE,NM_153332.3:p.Leu16Pro/c.47T>C,cTc/cCc,MODERATE,COSM3750139(12),0.84365,0.7639,rs2288672,1(T),0.0(B),-0.69(N),-0.9810(T),,chr8,8860620,8860620,T,C,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu16Pro/c.47T>C|349|ERI1|protein_coding|CODING|NM_153332.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.8845,0.8674,0.9135,0.90,0.85,0.92,,0.818009(N),1.000(P),"0.87,0.87,0.87(T,T,T)",0.0000(T),0.085,0.297171,2.15,-0.964,-1.212000,-0.660000,0.032000,0.003000,0.013000,0.158000,3.3397
synonymous_variant,ERI1,SILENT,NM_153332.3:p.Pro145Pro/c.435T>G,ccT/ccG,LOW,COSM3763438(1),0.300919,0.003,rs9650616,,,,,,chr8,8869199,8869199,T,G,het,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro145Pro/c.435T>G|349|ERI1|protein_coding|CODING|NM_153332.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2607,0.2767,0.4662,0.45,0.44,0.45,,,,,,,,,,,,,,,,
synonymous_variant,TNKS,SILENT,NM_003747.2:p.Arg200Arg/c.600G>A,agG/agA,LOW,COSM3763452(1),0.270168,0.4048,rs33945943,,,,,,chr8,9414049,9414049,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg200Arg/c.600G>A|1327|TNKS|protein_coding|CODING|NM_003747.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,H1ESC:Nrsf,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3",,,,0.32,0.1772,0.2366,0.22,0.20,0.23,,,,,,,,,,,,,,,,
synonymous_variant,TNKS,SILENT,NM_003747.2:p.Thr462Thr/c.1386A>G,acA/acG,LOW,COSM150448(3),0.546725,0.3829,rs7006985,,,,,,chr8,9564437,9564437,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr462Thr/c.1386A>G|1327|TNKS|protein_coding|CODING|NM_003747.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5869,0.5331,0.663,0.60,0.54,0.63,,,,,,,,,,,,,,,,
synonymous_variant,TNKS,SILENT,NM_003747.2:p.Pro478Pro/c.1434G>A,ccG/ccA,LOW,,0.111821,0.1151,rs33944167,,,,,,chr8,9564485,9564485,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro478Pro/c.1434G>A|1327|TNKS|protein_coding|CODING|NM_003747.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1933,0.0793,0.0586,0.07,0.09,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TNKS,SILENT,NM_003747.2:p.Val573Val/c.1719C>A,gtC/gtA,LOW,,0.0992412,0.1052,rs35052906,,,,,,chr8,9567700,9567700,C,A,het,synonymous_variant(LOW|SILENT|gtC/gtA|p.Val573Val/c.1719C>A|1327|TNKS|protein_coding|CODING|NM_003747.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.0418,0.0606,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TNKS,SILENT,NM_003747.2:p.Gly602Gly/c.1806T>C,ggT/ggC,LOW,,0.975439,1,rs6601360,,,,,,chr8,9577940,9577940,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly602Gly/c.1806T>C|1327|TNKS|protein_coding|CODING|NM_003747.2|12|1),"HUVEC:H3K36me3,HMEC:H3K36me3,GM12878:Srf,IMR90:H3K36me3,GM12878:MEF2A,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:DNase1,GM12878:Tcf12",,,,1,0.9914,0.998,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,PRSS55,MISSENSE,NM_198464.3:p.Gly15Arg/c.43G>A,Gga/Aga,MODERATE,COSM3982324(3),0.185304,0.3204,rs35102108,0.02(D),0.001(B),0(N),-1.0906(T),,chr8,10383138,10383138,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly15Arg/c.43G>A|276|PRSS55|protein_coding|CODING|NM_001197020.1|1|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly15Arg/c.43G>A|352|PRSS55|protein_coding|CODING|NM_198464.3|1|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1933,0.245,0.1789,0.16,0.08,0.20,,,1.000(P),"-2.38,-2.36(D,D)",0.0000(T),0.088,1.241746,3.39,-0.977,-0.218000,-0.219000,0.494000,0.000000,0.000000,0.000000,6.5712
missense_variant,PRSS55,MISSENSE,NM_198464.3:p.Pro44Arg/c.131C>G,cCt/cGt,MODERATE,COSM4162574(2),0.731829,0.6815,rs4521726,0.61(T),0.0(B),0.695(N),-0.9494(T),,chr8,10383226,10383226,C,G,het,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro44Arg/c.131C>G|276|PRSS55|protein_coding|CODING|NM_001197020.1|1|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro44Arg/c.131C>G|352|PRSS55|protein_coding|CODING|NM_198464.3|1|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8057,0.7392,0.8191,0.76,0.69,0.80,,,1.000(P),"-3.13,-3.13(D,D)",0.0000(T),0.055,-0.910778,0.418,-0.835,-1.269000,-1.290000,-0.646000,0.000000,0.000000,0.001000,.
synonymous_variant,PRSS55,SILENT,NM_198464.3:p.Val123Val/c.369G>A,gtG/gtA,LOW,,0.0505192,0.001,rs4841367,,,,,,chr8,10388826,10388826,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val123Val/c.369G>A|276|PRSS55|protein_coding|CODING|NM_001197020.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val123Val/c.369G>A|352|PRSS55|protein_coding|CODING|NM_198464.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0461,0.0636,0.08,0.11,0.06,,,,,,,,,,,,,,,,
synonymous_variant,PRSS55,SILENT,NM_198464.3:p.Ile270Ile/c.810A>C,atA/atC,LOW,,0.669529,0.7639,rs6601483,,,,,,chr8,10396054,10396054,A,C,het,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile270Ile/c.810A>C|352|PRSS55|protein_coding|CODING|NM_198464.3|5|1),intron_variant(MODIFIER|||c.741+5496A>C|276|PRSS55|protein_coding|CODING|NM_001197020.1|4|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.6728,0.6902,0.5964,0.63,0.62,0.63,,,,,,,,,,,,,,,,
missense_variant,PRSS55,MISSENSE,NM_198464.3:p.Ser271Thr/c.812G>C,aGc/aCc,MODERATE,,0.0682907,0.001,rs61743179,0(D),0.998(D),2.825(M),-1.1583(T),,chr8,10396056,10396056,G,C,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser271Thr/c.812G>C|352|PRSS55|protein_coding|CODING|NM_198464.3|5|1),intron_variant(MODIFIER|||c.741+5498G>C|276|PRSS55|protein_coding|CODING|NM_001197020.1|4|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.0051,0.0504,0.0616,0.10,0.18,0.06,,0.000852(D),0.000(P),-3.92(D),0.0237(T),0.384,3.711347,4.2,4.2,0.655000,2.324000,6.673000,0.813000,1.000000,1.000000,12.2115
missense_variant,PRSS55,MISSENSE,NM_001197020.1:p.Ser262Pro/c.784T>C,Tct/Cct,MODERATE,,0.0457268,0.003,rs79196981,0.01(D),,1.04(L),-0.8042(T),,chr8,10411495,10411495,T,C,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser262Pro/c.784T>C|276|PRSS55|protein_coding|CODING|NM_001197020.1|5|1),HUVEC:H3K27me3,,,,0.0082,0.0432,0.0596,,,,,,1.000(N),-2.39(D),0.0484(T),0.058,0.555986,1.67,1.67,0.172000,1.008000,0.043000,0.276000,0.004000,0.000000,5.4013
missense_variant,RP1L1,MISSENSE,NM_178857.5:p.Gly2285Arg/c.6853G>A,Gga/Aga,MODERATE,COSM453780(3),0.472045,0.5516,rs55642448,0.17(T),0.144(B),0(N),-1.0812(T),,chr8,10464755,10464755,C,T,hom,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly2285Arg/c.6853G>A|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),HepG2:H3K27me3,,,,0.5941,0.5317,0.3976,0.38,0.35,0.39,,,1.000(P),3.2(T),0.0000(T),0.09,2.000991,4.23,3.35,0.505000,1.141000,0.102000,0.105000,0.001000,0.000000,7.615
synonymous_variant,RP1L1,SILENT,NM_178857.5:p.Ser2241Ser/c.6723A>G,tcA/tcG,LOW,COSM453781(3),0.650958,0.9792,rs56382513,,,,,,chr8,10464885,10464885,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser2241Ser/c.6723A>G|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),HepG2:H3K27me3,,,,0.684,0.6686,0.5089,0.52,0.51,0.53,,,,,,,,,,,,,,,,
missense_variant,RP1L1,MISSENSE,NM_178857.5:p.Thr1954Ala/c.5860A>G,Acc/Gcc,MODERATE,COSM453782(2),0.649361,0.9772,rs11783478,1(T),0.0(B),0(N),-0.9886(T),,chr8,10465748,10465748,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1954Ala/c.5860A>G|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),,,,,0.683,0.6657,0.5089,0.52,0.50,0.53,,,1.000(P),3.67(T),0.0000(T),0.009,-1.139015,1.24,-2.32,-0.684000,-1.392000,-2.487000,0.007000,0.000000,0.000000,3.7577
missense_variant,RP1L1,MISSENSE,NM_178857.5:p.Ala1946Glu/c.5837C>A,gCg/gAg,MODERATE,,0.919728,0.998,rs11785822,1(T),0.0(B),0(N),-0.9767(T),,chr8,10465771,10465771,G,T,hom,missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala1946Glu/c.5837C>A|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),,,,,0.9018,0.9697,0.9632,0.92,0.85,0.96,,,1.000(P),2.63(T),0.0000(T),0.054,-1.718371,1.17,-2.34,-1.241000,-1.934000,-0.593000,0.035000,0.012000,0.000000,5.8404
missense_variant,RP1L1,MISSENSE,NM_178857.5:p.Asp1889Val/c.5666A>T,gAt/gTt,MODERATE,COSM3762973(1),0.23742,0.3929,rs28446662,0.28(T),0.006(B),0(N),-0.9215(T),,chr8,10465942,10465942,T,A,hom,missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp1889Val/c.5666A>T|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),NHEK:H3K27me3,,,,0.1227,0.3386,0.2147,0.20,0.19,0.20,,,1.000(P),3.17(T),0.0000(T),0.033,-0.064495,1.4,-2.8,-0.375000,-0.837000,-1.203000,0.001000,0.001000,0.000000,4.5421
missense_variant,RP1L1,MISSENSE,NM_178857.5:p.Pro1495Arg/c.4484C>G,cCc/cGc,MODERATE,COSM453785(2),0.281749,0.3938,rs4841399,0.05(D),0.314(B),0.345(N),-0.9701(T),,chr8,10467124,10467124,G,C,hom,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro1495Arg/c.4484C>G|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.184,0.353,0.2555,0.24,0.25,0.24,,0.066177(N),1.000(P),3.69(T),0.0000(T),0.051,1.054817,4.69,-5.06,-0.339000,-1.450000,-1.416000,0.000000,0.000000,0.000000,1.9854
missense_variant,RP1L1,MISSENSE,NM_178857.5:p.Arg1467Ser/c.4401G>T,agG/agT,MODERATE,,0.940895,1,rs4840498,1(T),0.0(B),-0.695(N),-0.9788(T),,chr8,10467207,10467207,C,A,hom,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg1467Ser/c.4401G>T|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9591,0.987,0.998,0.95,0.85,1.00,,0.404043(N),1.000(P),3.79(T),0.0000(T),0.017,-0.898588,4.63,2.13,-0.363000,-0.022000,0.456000,0.001000,0.000000,0.001000,0.7816
synonymous_variant,RP1L1,SILENT,NM_178857.5:p.Thr1344Thr/c.4032A>G,acA/acG,LOW,COSM3762977(2),,,rs4840499,,,,,,chr8,10467576,10467576,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1344Thr/c.4032A>G|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,RP1L1,MISSENSE,NM_178857.5:p.Arg1146Trp/c.3436C>T,Cgg/Tgg,MODERATE,COSM1453857(3),0.708067,0.5962,rs4840502,0.16(T),0.952(D),0.895(L),-0.9586(T),,chr8,10468172,10468172,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1146Trp/c.3436C>T|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8374,0.755,0.7346,0.71,0.68,0.72,,0.663905(N),1.000(P),3.33(T),0.0000(T),0.102,2.371741,4.64,-0.17,0.561000,0.100000,1.424000,0.537000,0.001000,0.016000,8.7622
synonymous_variant,RP1L1,SILENT,NM_178857.5:p.Ser772Ser/c.2316G>A,tcG/tcA,LOW,COSM3762981(1),0.0303514,0.001,rs62490857,,,,,,chr8,10469292,10469292,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser772Ser/c.2316G>A|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),HepG2:H3K27me3,,,,0.0194,0.0288,0.1083,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,RP1L1,SILENT,NM_178857.5:p.Gly597Gly/c.1791C>T,ggC/ggT,LOW,,0.797324,0.6101,rs6996950,,,,,,chr8,10469817,10469817,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly597Gly/c.1791C>T|2400|RP1L1|protein_coding|CODING|NM_178857.5|4|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8793,0.8372,0.8757,0.85,0.82,0.86,,,,,,,,,,,,,,,,
missense_variant,C8orf74,MISSENSE,NM_001040032.1:p.Leu15Phe/c.43C>T,Ctt/Ttt,MODERATE,,0.992412,0.9643,rs11250058,0.65(T),0.003(B),-0.84(N),-0.9920(T),,chr8,10530218,10530218,C,T,hom,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu15Phe/c.43C>T|294|C8orf74|protein_coding|CODING|NM_001040032.1|1|1),"HeLa-S3:DNase1,H1ESC:DNase1,HUVEC:Cjun,HUVEC:DNase1,NH-A:DNase1,HUVEC:H3K27ac,NHEK:DNase1",,,,0.998,1,1,1.00,1.00,1.00,,0.974056(N),1.000(P),1.32(T),0.0000(T),0.174,-0.468443,4.67,1.21,-0.942000,-0.277000,-0.749000,0.144000,0.011000,0.000000,9.1234
synonymous_variant,SOX7,SILENT,NM_031439.3:p.Leu303Leu/c.909T>C,ctT/ctC,LOW,,0.432708,0.1359,rs4841432,,,,,,chr8,10583506,10583506,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu303Leu/c.909T>C|388|SOX7|protein_coding|CODING|NM_031439.3|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.2812,0.3833,0.3777,0.49,0.74,0.37,,,,,,,,,,,,,,,,
missense_variant,PINX1,MISSENSE,NM_017884.5:p.Arg185Trp/c.553C>T,Cgg/Tgg,MODERATE,,,,,0.09(T),0.084(B),2.485(M),-0.9114(T),,chr8,10623345,10623345,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala159Val/c.476C>T|174|PINX1|protein_coding|CODING|NM_001284356.1|6|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg185Trp/c.553C>T|328|PINX1|protein_coding|CODING|NM_017884.5|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),,0.1383(T),.,3.334279,5.8,0.498,0.655000,-0.207000,0.190000,0.687000,0.329000,0.872000,14.4203
synonymous_variant,MTMR9,SILENT,NM_015458.3:p.Leu188Leu/c.564A>C,ctA/ctC,LOW,COSM3763002(2),0.40016,0.7063,rs2164272,,,,,,chr8,11162496,11162496,A,C,het,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu188Leu/c.564A>C|549|MTMR9|protein_coding|CODING|NM_015458.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.353,0.3917,0.34,0.20,0.40,,,,,,,,,,,,,,,,
missense_variant,SLC35G5,MISSENSE,NM_054028.1:p.Ala43Val/c.128C>T,gCc/gTc,MODERATE,COSM4162596(1),0.317093,0.5833,rs13260331,0.47(T),0.985(D),0.895(L),-0.9376(T),,chr8,11188743,11188743,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala43Val/c.128C>T|338|SLC35G5|protein_coding|CODING|NM_054028.1|1|1),"H1ESC:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3",,,,0.3855,0.3401,0.3588,0.29,0.09,0.39,,0.000436(D),0.604(P),1.49(T),0.0000(T),0.094,1.638949,0.34,0.34,0.089000,0.426000,0.269000,0.193000,0.849000,0.799000,2.848
missense_variant,SLC35G5,MISSENSE,NM_054028.1:p.Gly46Asp/c.137G>A,gGt/gAt,MODERATE,COSM4162597(1),0.426518,0.7351,rs6990563,0.02(D),0.916(D),0.805(L),-0.9473(T),,chr8,11188752,11188752,G,A,hom,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly46Asp/c.137G>A|338|SLC35G5|protein_coding|CODING|NM_054028.1|1|1),"H1ESC:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3",,,,0.4959,0.3718,0.4553,0.38,0.20,0.47,,0.000330(D),0.002(P),0.96(T),0.0000(T),0.153,2.867345,0.34,0.34,0.089000,0.426000,3.390000,0.252000,0.966000,1.000000,6.5344
missense_variant,FAM167A,MISSENSE,NM_053279.2:p.Thr107Ser/c.320C>G,aCt/aGt,MODERATE,COSM4162602(1),0.0786741,0,rs3021512,0.96(T),0.001(B),0.715(N),-0.9627(T),,chr8,11301601,11301601,G,C,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr107Ser/c.320C>G|214|FAM167A|protein_coding|CODING|NM_053279.2|2|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0603,0.1124,0.2107,0.15,0.06,0.20,,0.220302(N),1.000(P),"3.24,3.24,3.24(T,T,T)",0.0000(T),0.01,-0.091530,5.42,2.55,0.655000,0.661000,3.705000,0.004000,0.000000,0.993000,7.0385
missense_variant,FAM167A,MISSENSE,NM_053279.2:p.His56Gln/c.168T>G,caT/caG,MODERATE,,0.997804,1,rs3021513,1(T),0.0(B),-2.215(N),-1.0192(T),,chr8,11301753,11301753,A,C,hom,missense_variant(MODERATE|MISSENSE|caT/caG|p.His56Gln/c.168T>G|214|FAM167A|protein_coding|CODING|NM_053279.2|2|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.998,0.9928,0.996,0.99,1.00,0.99,,0.047953(N),1.000(P),"3.25,3.25,3.25,3.25(T,T,T,T)",0.0000(T),0.233,-0.428490,4.89,2.03,-0.121000,-0.004000,0.441000,0.807000,0.673000,0.988000,2.7291
synonymous_variant,BLK,SILENT,NM_001715.2:p.Phe281Phe/c.843T>C,ttT/ttC,LOW,COSM4162611(1),0.827676,0.9474,rs2306234,,,,,,chr8,11414237,11414237,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe281Phe/c.843T>C|505|BLK|protein_coding|CODING|NM_001715.2|9|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000116500.2,,0.771,0.8991,0.8489,0.81,0.75,0.85,,,,,,,,,,,,,,,,
synonymous_variant,NEIL2,SILENT,NM_001135746.1:p.Pro188Pro/c.564A>G,ccA/ccG,LOW,,0.214657,0.0109,rs8191642,,,,,,chr8,11640784,11640784,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro188Pro/c.564A>G|332|NEIL2|protein_coding|CODING|NM_001135746.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro127Pro/c.381A>G|271|NEIL2|protein_coding|CODING|NM_001135747.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro72Pro/c.216A>G|216|NEIL2|protein_coding|CODING|NM_001135748.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro188Pro/c.564A>G|332|NEIL2|protein_coding|CODING|NM_145043.2|4|1)","CD4:H3K9me1,H1ESC:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1503,0.1816,0.2376,0.27,0.37,0.23,,,,,,,,,,,,,,,,
synonymous_variant,FDFT1,SILENT,NM_001287750.1:p.Asn126Asn/c.378C>T,aaC/aaT,LOW,COSM3763009(3),0.237819,0.4474,rs8417,,,,,,chr8,11667179,11667179,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn67Asn/c.201C>T|417|FDFT1|protein_coding|CODING|NM_001287742.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn67Asn/c.201C>T|417|FDFT1|protein_coding|CODING|NM_001287743.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn3Asn/c.9C>T|353|FDFT1|protein_coding|CODING|NM_001287744.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn3Asn/c.9C>T|353|FDFT1|protein_coding|CODING|NM_001287745.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn3Asn/c.9C>T|353|FDFT1|protein_coding|CODING|NM_001287747.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn3Asn/c.9C>T|353|FDFT1|protein_coding|CODING|NM_001287748.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn3Asn/c.9C>T|353|FDFT1|protein_coding|CODING|NM_001287749.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn126Asn/c.378C>T|476|FDFT1|protein_coding|CODING|NM_001287750.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn67Asn/c.201C>T|417|FDFT1|protein_coding|CODING|NM_004462.4|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||332|FDFT1|protein_coding|CODING|NM_001287751.1|2|1),5_prime_UTR_variant(MODIFIER||55|c.-55C>T|332|FDFT1|protein_coding|CODING|NM_001287751.1|2|1),intron_variant(MODIFIER|||c.64+6760C>T|250|FDFT1|protein_coding|CODING|NM_001287756.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,GM06990:H3K36me3",,,,0.2638,0.2406,0.1918,0.17,0.12,0.19,,,,,,,,,,,,,,,,
synonymous_variant,FDFT1,SILENT,NM_001287750.1:p.Leu270Leu/c.808T>C,Ttg/Ctg,LOW,,0.97504,1,rs904011,,,,,,chr8,11683653,11683653,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu211Leu/c.631T>C|417|FDFT1|protein_coding|CODING|NM_001287742.1|7|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu211Leu/c.631T>C|417|FDFT1|protein_coding|CODING|NM_001287743.1|6|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu147Leu/c.439T>C|353|FDFT1|protein_coding|CODING|NM_001287744.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu147Leu/c.439T>C|353|FDFT1|protein_coding|CODING|NM_001287745.1|6|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu147Leu/c.439T>C|353|FDFT1|protein_coding|CODING|NM_001287747.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu147Leu/c.439T>C|353|FDFT1|protein_coding|CODING|NM_001287748.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu147Leu/c.439T>C|353|FDFT1|protein_coding|CODING|NM_001287749.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu270Leu/c.808T>C|476|FDFT1|protein_coding|CODING|NM_001287750.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu126Leu/c.376T>C|332|FDFT1|protein_coding|CODING|NM_001287751.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu211Leu/c.631T>C|417|FDFT1|protein_coding|CODING|NM_004462.4|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu44Leu/c.130T>C|250|FDFT1|protein_coding|CODING|NM_001287756.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FDFT1,SILENT,NM_001287750.1:p.Leu383Leu/c.1149G>C,ctG/ctC,LOW,COSM3763010(1),0.306909,0.7252,rs9205,,,,,,chr8,11689119,11689119,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu324Leu/c.972G>C|417|FDFT1|protein_coding|CODING|NM_001287742.1|9|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu324Leu/c.972G>C|417|FDFT1|protein_coding|CODING|NM_001287743.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu260Leu/c.780G>C|353|FDFT1|protein_coding|CODING|NM_001287744.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu260Leu/c.780G>C|353|FDFT1|protein_coding|CODING|NM_001287745.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu260Leu/c.780G>C|353|FDFT1|protein_coding|CODING|NM_001287747.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu260Leu/c.780G>C|353|FDFT1|protein_coding|CODING|NM_001287748.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu260Leu/c.780G>C|353|FDFT1|protein_coding|CODING|NM_001287749.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu383Leu/c.1149G>C|476|FDFT1|protein_coding|CODING|NM_001287750.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu239Leu/c.717G>C|332|FDFT1|protein_coding|CODING|NM_001287751.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu157Leu/c.471G>C|250|FDFT1|protein_coding|CODING|NM_001287756.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu324Leu/c.972G>C|417|FDFT1|protein_coding|CODING|NM_004462.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2945,0.2824,0.2097,0.18,0.11,0.21,,,,,,,,,,,,,,,,
synonymous_variant,CTSB,SILENT,NM_001908.3:p.Thr140Thr/c.420A>C,acA/acC,LOW,COSM329287(2),0.569888,0.5119,rs13332,,,,,,chr8,11706581,11706581,T,G,hom,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr140Thr/c.420A>C|339|CTSB|protein_coding|CODING|NM_001908.3|5|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr140Thr/c.420A>C|339|CTSB|protein_coding|CODING|NM_147780.2|7|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr140Thr/c.420A>C|339|CTSB|protein_coding|CODING|NM_147781.2|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr140Thr/c.420A>C|339|CTSB|protein_coding|CODING|NM_147782.2|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr140Thr/c.420A>C|339|CTSB|protein_coding|CODING|NM_147783.2|6|1)","NHEK:CTCF,NHEK:H3K27ac,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,HepG2:FOSL2,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,NHEK:H3K4me2,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.5562,0.5389,0.6163,0.65,0.70,0.62,,,,,,,,,,,,,,,,
missense_variant,CTSB,MISSENSE,NM_001908.3:p.Leu26Val/c.76C>G,Ctg/Gtg,MODERATE,COSM3763011(3),0.395966,0.5149,rs12338,0.01(D),0.017(B),3.63(H),-1.0046(T),,chr8,11710888,11710888,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu26Val/c.76C>G|339|CTSB|protein_coding|CODING|NM_001908.3|2|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu26Val/c.76C>G|339|CTSB|protein_coding|CODING|NM_147780.2|4|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu26Val/c.76C>G|339|CTSB|protein_coding|CODING|NM_147781.2|3|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu26Val/c.76C>G|339|CTSB|protein_coding|CODING|NM_147782.2|3|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu26Val/c.76C>G|339|CTSB|protein_coding|CODING|NM_147783.2|3|1)","IMR90:H3K9ac,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,HepG2:USF1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H2BK5me1,IMR90:H3K27ac,HepG2:FOSL2,HepG2:FOXA2,NHEK:H3K36me3,HepG2:CTCF,HMEC:H3K4me1,HepG2:H3K36me3,HepG2:FOXA1,HUVEC:H3K27ac,HepG2:DNase1,GM06990:H3K36me3,HepG2:Cmyc",,,,0.3804,0.3905,0.3827,0.36,0.34,0.37,,0.000000(D),0.000(P),"-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-0.15,-1.1(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.597,2.154838,5.16,2.39,0.462000,0.192000,1.474000,0.642000,0.212000,0.941000,4.8161
synonymous_variant,DEFB136,SILENT,NM_001033018.2:p.Phe10Phe/c.30T>C,ttT/ttC,LOW,COSM3763013(3),0.771965,0.9851,rs10108075,,,,,,chr8,11832079,11832079,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe10Phe/c.30T>C|78|DEFB136|protein_coding|CODING|NM_001033018.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7577,0.6945,0.5159,0.62,0.81,0.53,,,,,,,,,,,,,,,,
missense_variant,KIAA1456,MISSENSE,NM_020844.2:p.His150Arg/c.449A>G,cAc/cGc,MODERATE,,0.997604,1,rs528255,0.69(T),0.001(B),-0.39(N),-0.9579(T),,chr8,12878637,12878637,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His24Arg/c.71A>G|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His150Arg/c.449A>G|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,1,1,1,1.00,0.99,1.00,,0.011217(N),0.001(P),1.05(T),0.0000(T),0.027,-1.191746,5.71,0.659,-1.073000,-0.063000,0.032000,0.492000,0.762000,0.346000,12.1229
synonymous_variant,KIAA1456,SILENT,NM_020844.2:p.Ala163Ala/c.489T>C,gcT/gcC,LOW,,0.710264,0.7937,rs622106,,,,,,chr8,12878677,12878677,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala37Ala/c.111T>C|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala163Ala/c.489T>C|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.6462,0.7622,0.8221,0.75,0.63,0.80,,,,,,,,,,,,,,,,
missense_variant,KIAA1456,MISSENSE,NM_020844.2:p.Cys207Gly/c.619T>G,Tgt/Ggt,MODERATE,,0.64996,0.7798,rs3739310,0.44(T),0.0(B),1.935(M),-0.9542(T),,chr8,12878807,12878807,T,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys81Gly/c.241T>G|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys207Gly/c.619T>G|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.592,0.7262,0.7714,0.67,0.51,0.75,,0.546367(N),1.000(P),2.97(T),0.0000(T),0.093,1.446493,5.67,-6.48,0.529000,-0.657000,-1.528000,0.600000,0.000000,0.000000,1.6753
synonymous_variant,KIAA1456,SILENT,NM_020844.2:p.Ser214Ser/c.642C>T,agC/agT,LOW,,0.295327,0.127,rs3739309,,,,,,chr8,12878830,12878830,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser88Ser/c.264C>T|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser214Ser/c.642C>T|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.4387,0.2738,0.4811,0.38,0.21,0.46,,,,,,,,,,,,,,,,
missense_variant,KIAA1456,MISSENSE,NM_020844.2:p.Pro219Thr/c.655C>A,Cct/Act,MODERATE,,0.0491214,0.0139,rs505480,0.55(T),0.029(B),1.5(L),-0.9814(T),,chr8,12878843,12878843,C,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro93Thr/c.277C>A|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro219Thr/c.655C>A|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.0511,0.0317,0.0507,0.06,0.09,0.05,,0.050089(N),0.977(P),2.97(T),0.0010(T),0.148,1.022229,4.85,0.567,0.650000,0.140000,0.261000,0.081000,0.002000,0.006000,8.179
synonymous_variant,KIAA1456,SILENT,NM_020844.2:p.Leu292Leu/c.874T>C,Tta/Cta,LOW,,0.711462,0.7937,rs503550,,,,,,chr8,12879062,12879062,T,C,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu166Leu/c.496T>C|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu292Leu/c.874T>C|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.6462,0.7622,0.8221,0.75,0.63,0.80,,,,,,,,,,,,,,,,
missense_variant,KIAA1456,MISSENSE,NM_020844.2:p.Gly304Glu/c.911G>A,gGg/gAg,MODERATE,,0.711462,0.7937,rs502882,1(T),0.0(B),-1.52(N),-1.0114(T),,chr8,12879099,12879099,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly178Glu/c.533G>A|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly304Glu/c.911G>A|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.6462,0.7622,0.8221,0.75,0.63,0.80,,0.880032(N),1.000(P),3.18(T),0.0000(T),0.015,-0.897193,5.32,1.07,-0.254000,-0.117000,1.217000,0.067000,0.000000,0.145000,5.7482
synonymous_variant,KIAA1456,SILENT,NM_020844.2:p.Val382Val/c.1146T>C,gtT/gtC,LOW,,0.709065,0.7937,rs608909,,,,,,chr8,12879334,12879334,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val256Val/c.768T>C|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val382Val/c.1146T>C|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.6462,0.7608,0.8221,0.75,0.63,0.80,,,,,,,,,,,,,,,,
missense_variant,KIAA1456,MISSENSE,NM_020844.2:p.Arg451Gly/c.1351A>G,Aga/Gga,MODERATE,,0.704673,0.7946,rs608052,0.5(T),0.0(B),-0.55(N),-1.0154(T),,chr8,12879539,12879539,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg325Gly/c.973A>G|328|KIAA1456|protein_coding|CODING|NM_001099677.1|2|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg451Gly/c.1351A>G|454|KIAA1456|protein_coding|CODING|NM_020844.2|5|1)",HUVEC:H3K27me3,,,,0.6462,0.7608,0.8221,0.74,0.60,0.80,,0.203288(N),1.000(P),2.64(T),0.0000(T),0.015,-0.905800,4.74,0.894,-0.724000,0.061000,0.696000,0.101000,0.034000,0.620000,5.8969
synonymous_variant,DLC1,SILENT,NM_182643.2:p.Arg1182Arg/c.3546C>A,cgC/cgA,LOW,COSM3763044(1),0.113019,0.0268,rs386599412,,,,,,chr8,12950315,12950315,G,T,het,"synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg671Arg/c.2013C>A|1017|DLC1|protein_coding|CODING|NM_001164271.1|9|1),synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg745Arg/c.2235C>A|1091|DLC1|protein_coding|CODING|NM_006094.4|9|1),synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg1182Arg/c.3546C>A|1528|DLC1|protein_coding|CODING|NM_182643.2|13|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1186,0.0562,0.0557,0.11,0.23,0.05,,,,,,,,,,,,,,,,
synonymous_variant,DLC1,SILENT,NM_182643.2:p.Ser1167Ser/c.3501G>A,tcG/tcA,LOW,,0.112819,0.0258,rs386603722,,,,,,chr8,12952293,12952293,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser656Ser/c.1968G>A|1017|DLC1|protein_coding|CODING|NM_001164271.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser730Ser/c.2190G>A|1091|DLC1|protein_coding|CODING|NM_006094.4|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1167Ser/c.3501G>A|1528|DLC1|protein_coding|CODING|NM_182643.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1104,0.0591,0.0557,0.11,0.23,0.05,,,,,,,,,,,,,,,,
missense_variant,DLC1,MISSENSE,NM_182643.2:p.Val791Met/c.2371G>A,Gtg/Atg,MODERATE,COSM150456(5),0.496605,0.3363,rs386598361,0.18(T),"0.0,0.001,0.0(B,B,B)",-0.55(N),-0.9631(T),,chr8,12957475,12957475,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val280Met/c.838G>A|1017|DLC1|protein_coding|CODING|NM_001164271.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val354Met/c.1060G>A|1091|DLC1|protein_coding|CODING|NM_006094.4|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val791Met/c.2371G>A|1528|DLC1|protein_coding|CODING|NM_182643.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.591,0.3847,0.495,0.53,0.59,0.49,,0.604004(N),1.000(P),"3.64,3.41,3.41,3.41(T,T,T,T)",0.0000(T),0.139,0.273981,4.23,-6.1,-1.197000,-1.397000,-0.575000,0.716000,0.001000,0.000000,11.1358
missense_variant,DLC1,MISSENSE,NM_182643.2:p.Thr260Ile/c.779C>T,aCt/aTt,MODERATE,,0.815096,0.6131,rs3816747,0.21(T),"0.0,0.0,0.0(B,B,B)",-1.15(N),-0.9424(T),,chr8,13356802,13356802,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr260Ile/c.779C>T|463|DLC1|protein_coding|CODING|NM_024767.3|2|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr260Ile/c.779C>T|1528|DLC1|protein_coding|CODING|NM_182643.2|2|1)",,,,,0.9243,0.7334,0.9374,0.91,0.87,0.93,,0.151080(N),1.000(P),"3.65,2.72,2.73(T,T,T)",0.0000(T),0.054,-0.291630,4.98,-9.96,-0.254000,-2.998000,-1.122000,0.243000,0.000000,0.000000,8.8497
missense_variant,DLC1,MISSENSE,NM_182643.2:p.Asn255Asp/c.763A>G,Aat/Gat,MODERATE,,0.958067,0.999,rs11203494,1(T),"0.0,0.0,0.0(B,B,B)",-1.32(N),-0.9984(T),,chr8,13356818,13356818,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn255Asp/c.763A>G|463|DLC1|protein_coding|CODING|NM_024767.3|2|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn255Asp/c.763A>G|1528|DLC1|protein_coding|CODING|NM_182643.2|2|1)",,,,,0.9898,0.9654,0.9583,0.95,0.91,0.96,,0.385262(N),1.000(P),"3.92,2.98,3.0(T,T,T)",0.0000(T),0.007,-2.200419,4.98,1.93,-0.119000,0.047000,0.388000,0.215000,0.003000,0.000000,9.9078
missense_variant,DLC1,MISSENSE,NM_182643.2:p.Gln254His/c.762A>C,caA/caC,MODERATE,,0.758387,0.6121,rs11203495,0.24(T),"0.007,0.004,0.001(B,B,B)",1.445(L),-1.0177(T),,chr8,13356819,13356819,T,G,hom,"missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln254His/c.762A>C|463|DLC1|protein_coding|CODING|NM_024767.3|2|1),missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln254His/c.762A>C|1528|DLC1|protein_coding|CODING|NM_182643.2|2|1)",,,,,0.8538,0.7248,0.9374,0.86,0.74,0.93,,0.547737(N),1.000(P),"3.38,2.45,2.46(T,T,T)",0.0000(T),0.154,-0.039264,4.98,-5.59,0.533000,-0.824000,-0.435000,0.178000,0.000000,0.000000,1.5909
missense_variant,C8orf48,MISSENSE,NM_001007090.2:p.Ser28Phe/c.83C>T,tCt/tTt,MODERATE,,0.812101,0.9673,rs13273355,0.75(T),0.0(B),-1.59(N),-1.0088(T),,chr8,13424583,13424583,C,T,hom,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser28Phe/c.83C>T|319|C8orf48|protein_coding|CODING|NM_001007090.2|1|1),"HSMM:H2AZ,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.771,0.8602,0.8211,0.79,0.73,0.82,,0.522263(N),1.000(P),1.59(T),0.0000(T),0.09,-1.213849,4.48,1.98,-0.254000,0.104000,-0.071000,0.012000,0.000000,0.000000,5.6094
missense_variant,C8orf48,MISSENSE,NM_001007090.2:p.Leu285Met/c.853T>A,Ttg/Atg,MODERATE,,0.985024,1,rs11203497,1(T),0.002(B),-0.895(N),-0.9532(T),,chr8,13425353,13425353,T,A,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu285Met/c.853T>A|319|C8orf48|protein_coding|CODING|NM_001007090.2|1|1),"H1ESC:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,1,0.98,0.95,1.00,,,1.000(P),1.36(T),0.0000(T),0.092,-0.101538,4.32,-4.4,-0.257000,-1.086000,-1.661000,0.716000,0.027000,0.000000,0.7464
synonymous_variant,MSR1,SILENT,NM_138715.2:p.Arg362Arg/c.1086G>A,agG/agA,LOW,,0.997404,1,rs4338104,,,,,,chr8,15978063,15978063,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg362Arg/c.1086G>A|451|MSR1|protein_coding|CODING|NM_138715.2|9|1),intron_variant(MODIFIER|||c.1034-10336G>A|388|MSR1|protein_coding|CODING|NM_138716.2|8|1)","K562:H3K4me3,IMR90:DNase1",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FGF20,SILENT,NM_019851.2:p.Ala48Ala/c.144G>C,gcG/gcC,LOW,COSM3750125(4),0.882987,0.997,rs10448135,,,,,,chr8,16859398,16859398,C,G,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala48Ala/c.144G>C|211|FGF20|protein_coding|CODING|NM_019851.2|1|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.8395,0.8602,0.7545,,,,,,,,,,,,,,,,,,,
synonymous_variant,MICU3,SILENT,NM_181723.2:p.Thr96Thr/c.288C>G,acC/acG,LOW,,0.0447284,0.0357,rs141378607,,,,,,chr8,16885076,16885076,C,G,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr96Thr/c.288C>G|530|MICU3|protein_coding|CODING|NM_181723.2|1|1),"K562:H3K4me3,H1ESC:H3K9ac,IMR90:H3K9ac,HUVEC:H3K4me3,CD4:DNase1,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HMEC:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0654,0.0692,0.0676,,,,,,,,,,,,,,,,,,,
synonymous_variant,VPS37A,SILENT,NM_152415.2:p.Asp351Asp/c.1053C>T,gaC/gaT,LOW,COSM3763212(2),0.349641,0.5853,rs2285269,,,,,,chr8,17142065,17142065,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp326Asp/c.978C>T|372|VPS37A|protein_coding|CODING|NM_001145152.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp351Asp/c.1053C>T|397|VPS37A|protein_coding|CODING|NM_152415.2|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2699,0.3617,0.1471,0.19,0.32,0.12,,,,,,,,,,,,,,,,
missense_variant,MTMR7,MISSENSE,NM_004686.4:p.Pro44Ala/c.130C>G,Cca/Gca,MODERATE,,0.990016,1,rs7388581,1(T),0.0(B),-1.545(N),-0.9470(T),,chr8,17230644,17230644,G,C,hom,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro44Ala/c.130C>G|660|MTMR7|protein_coding|CODING|NM_004686.4|2|1),NHEK:H3K27me3,,,,1,0.9986,1,0.99,0.97,1.00,,0.543934(N),1.000(P),"-1.59,-1.59(D,D)",0.0000(T),0.083,-4.632106,5.46,-1.49,-5.741000,-0.755000,0.255000,0.087000,0.650000,0.079000,0.5658
synonymous_variant,MTMR7,SILENT,NM_004686.4:p.Arg5Arg/c.15T>C,cgT/cgC,LOW,COSM4162878(3),0.990815,1,rs67972978,,,,,,chr8,17270787,17270787,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg5Arg/c.15T>C|660|MTMR7|protein_coding|CODING|NM_004686.4|1|1),"HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,SLC7A2,MISSENSE,NM_001164771.1:p.Arg16Gln/c.47G>A,cGa/cAa,MODERATE,COSM3763213(1),0.0595048,0,rs13259948,0(D),"0.0,0.0(B,B)",,-0.9843(T),,chr8,17396380,17396380,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg16Gln/c.47G>A|698|SLC7A2|protein_coding|CODING|NM_001164771.1|1|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg16Gln/c.47G>A|697|SLC7A2|protein_coding|CODING|NM_003046.5|1|1),intron_variant(MODIFIER|||c.-22-4447G>A|658|SLC7A2|protein_coding|CODING|NM_001008539.3|1|1)","HeLa-S3:DNase1,HSMM:DNase1,HepG2:H3K36me3",,,,0.0327,0.0937,0.1869,0.14,0.04,0.19,,,1.000(P),"-2.43,-2.29,-2.43(D,D,D)",0.0014(T),0.024,1.743855,3.34,0.559,-0.355000,0.106000,0.782000,0.004000,0.000000,0.001000,5.4713
missense_variant,SLC7A2,MISSENSE,NM_001164771.1:p.Asp28His/c.82G>C,Gac/Cac,MODERATE,COSM3763214(1),0.193091,0.1141,rs13259978,0.09(T),"0.0,0.0(B,B)",,-1.0672(T),,chr8,17396415,17396415,G,C,het,"missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp28His/c.82G>C|698|SLC7A2|protein_coding|CODING|NM_001164771.1|1|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp28His/c.82G>C|697|SLC7A2|protein_coding|CODING|NM_003046.5|1|1),intron_variant(MODIFIER|||c.-22-4412G>C|658|SLC7A2|protein_coding|CODING|NM_001008539.3|1|1)","HeLa-S3:DNase1,HSMM:DNase1,HepG2:H3K36me3",,,,0.1391,0.1744,0.2038,0.23,0.28,0.21,,,1.000(P),"-2.5,-2.36,-2.5(D,D,D)",0.0000(T),0.005,0.561770,3.54,-1.78,-0.256000,-0.398000,-0.069000,0.001000,0.000000,0.000000,0.5525
synonymous_variant,SLC7A2,SILENT,NM_001164771.1:p.Pro35Pro/c.105T>G,ccT/ccG,LOW,,0.000199681,0,rs201956263,,,,,,chr8,17400833,17400833,T,G,het,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro35Pro/c.105T>G|698|SLC7A2|protein_coding|CODING|NM_001164771.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro35Pro/c.105T>G|697|SLC7A2|protein_coding|CODING|NM_003046.5|2|1),5_prime_UTR_variant(MODIFIER||16|c.-16T>G|658|SLC7A2|protein_coding|CODING|NM_001008539.3|2|1)","GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0,0.0014,0,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,PDGFRL,SILENT,NM_006207.2:p.Tyr264Tyr/c.792T>C,taT/taC,LOW,,0.988019,1,rs2229084,,,,,,chr8,17486282,17486282,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr264Tyr/c.792T>C|375|PDGFRL|protein_coding|CODING|NM_006207.2|5|1),NHEK:H3K27me3,,,,1,0.9971,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PDGFRL,SILENT,NM_006207.2:p.Phe347Phe/c.1041T>C,ttT/ttC,LOW,COSM3763215(1),0.406949,0.4593,rs4705,,,,,,chr8,17500223,17500223,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe347Phe/c.1041T>C|375|PDGFRL|protein_coding|CODING|NM_006207.2|7|1),downstream_gene_variant(MODIFIER||1080||1270|MTUS1|protein_coding|CODING|NM_001001924.2||1),downstream_gene_variant(MODIFIER||1080||1216|MTUS1|protein_coding|CODING|NM_001001925.2||1),downstream_gene_variant(MODIFIER||1080||517|MTUS1|protein_coding|CODING|NM_001001931.2||1),downstream_gene_variant(MODIFIER||1080||415|MTUS1|protein_coding|CODING|NM_001166393.1||1),downstream_gene_variant(MODIFIER||1080||436|MTUS1|protein_coding|CODING|NM_020749.4||1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4458,0.4135,0.5825,0.47,0.27,0.57,,,,,,,,,,,,,,,,
synonymous_variant,MTUS1,SILENT,NM_001001924.2:p.Thr892Thr/c.2676A>G,acA/acG,LOW,,0.252995,0.374,rs2979792,,,,,,chr8,17541999,17541999,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr892Thr/c.2676A>G|1270|MTUS1|protein_coding|CODING|NM_001001924.2|7|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr838Thr/c.2514A>G|1216|MTUS1|protein_coding|CODING|NM_001001925.2|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr139Thr/c.417A>G|517|MTUS1|protein_coding|CODING|NM_001001931.2|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr37Thr/c.111A>G|415|MTUS1|protein_coding|CODING|NM_001166393.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr58Thr/c.174A>G|436|MTUS1|protein_coding|CODING|NM_020749.4|2|1)","HUVEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1",,,,0.1933,0.2752,0.4135,0.30,0.13,0.38,,,,,,,,,,,,,,,,
synonymous_variant,MTUS1,SILENT,NM_001001924.2:p.Pro477Pro/c.1431C>T,ccC/ccT,LOW,,0.667732,0.5942,rs2979788,,,,,,chr8,17611886,17611886,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro477Pro/c.1431C>T|1270|MTUS1|protein_coding|CODING|NM_001001924.2|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro477Pro/c.1431C>T|1216|MTUS1|protein_coding|CODING|NM_001001925.2|2|1)","HUVEC:H3K27me3,NHEK:H3K4me1,IMR90:H3K27me3,HepG2:H3K36me3,NHEK:H3K4me2",,,,0.8517,0.8228,0.8519,0.72,0.46,0.84,,,,,,,,,,,,,,,,
missense_variant,MTUS1,MISSENSE,NM_001001924.2:p.Lys453Thr/c.1358A>C,aAa/aCa,MODERATE,COSM3982443(1),0.101837,0.2093,rs17690844,0.33(T),"0.018,0.011,0.011(B,B,B)",0.805(L),-0.9697(T),,chr8,17611959,17611959,T,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys453Thr/c.1358A>C|1270|MTUS1|protein_coding|CODING|NM_001001924.2|2|1),missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys453Thr/c.1358A>C|1216|MTUS1|protein_coding|CODING|NM_001001925.2|2|1)","HUVEC:H3K27me3,NHEK:H3K4me1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0082,0.0476,0.0298,0.07,0.16,0.03,,0.156180(N),1.000(P),"3.0,3.01,3.0,2.03(T,T,T,T)",0.0000(T),0.275,0.163306,5.0,2.54,0.533000,0.445000,0.953000,0.052000,0.003000,0.002000,7.928
synonymous_variant,MTUS1,SILENT,NM_001001924.2:p.Lys287Lys/c.861G>A,aaG/aaA,LOW,,0.858227,0.8075,rs11203910,,,,,,chr8,17612456,17612456,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys287Lys/c.861G>A|1270|MTUS1|protein_coding|CODING|NM_001001924.2|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys287Lys/c.861G>A|1216|MTUS1|protein_coding|CODING|NM_001001925.2|2|1)","HUVEC:H3K27me3,NHEK:H3K4me1,IMR90:H3K27me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.9131,0.9395,0.9523,0.89,0.78,0.94,,,,,,,,,,,,,,,,
missense_variant,MTUS1,MISSENSE,NM_001001924.2:p.Cys148Arg/c.442T>C,Tgt/Cgt,MODERATE,COSM3763220(2),0.710264,0.6756,rs3739407,,"0.029,0.007,0.667(B,B,P)",0.805(L),-0.9801(T),,chr8,17612875,17612875,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys148Arg/c.442T>C|1270|MTUS1|protein_coding|CODING|NM_001001924.2|2|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys148Arg/c.442T>C|1216|MTUS1|protein_coding|CODING|NM_001001925.2|2|1)","NHEK:CTCF,HUVEC:H3K27me3,HUVEC:CTCF,HSMM:CTCF,HeLa-S3:CTCF,NH-A:DNase1,HMEC:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K36me3,HMEC:DNase1,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,0.8558,0.7003,0.8022,0.73,0.60,0.79,,0.655247(N),1.000(P),"2.09,2.18,2.09,1.24(T,T,T,T)",0.0000(T),0.1,1.513019,4.08,-2.94,-0.383000,-0.517000,1.006000,0.001000,0.000000,0.000000,5.3792
missense_variant,FGL1,MISSENSE,NM_004467.3:p.Ile72Val/c.214A>G,Att/Gtt,MODERATE,,0.412141,0.4345,rs3739406,0.51(T),"0.001,0.003(B,B)",0.55(N),-0.9258(T),,chr8,17739538,17739538,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile72Val/c.214A>G|312|FGL1|protein_coding|CODING|NM_004467.3|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile72Val/c.214A>G|312|FGL1|protein_coding|CODING|NM_147203.2|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile72Val/c.214A>G|312|FGL1|protein_coding|CODING|NM_201552.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile72Val/c.214A>G|312|FGL1|protein_coding|CODING|NM_201553.1|4|1)","IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3906,0.4049,0.6521,0.56,0.31,0.68,,0.842971(N),1.000(P),"0.72,0.72,0.72,0.72,0.72,0.72,0.72(T,T,T,T,T,T,T)",0.0000(T),0.153,-0.326486,5.8,-2.95,-0.328000,-0.080000,0.139000,0.112000,0.090000,0.995000,3.6773
missense_variant,FGL1,MISSENSE,NM_004467.3:p.Thr15Ile/c.44C>T,aCa/aTa,MODERATE,,0.649161,0.501,rs484373,0.52(T),0.0(B),-0.345(N),-0.9631(T),,chr8,17743020,17743020,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr15Ile/c.44C>T|312|FGL1|protein_coding|CODING|NM_004467.3|2|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr15Ile/c.44C>T|312|FGL1|protein_coding|CODING|NM_147203.2|2|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr15Ile/c.44C>T|312|FGL1|protein_coding|CODING|NM_201552.1|3|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr15Ile/c.44C>T|312|FGL1|protein_coding|CODING|NM_201553.1|3|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5337,0.5014,0.7684,0.81,0.85,0.79,,0.000007(N),1.000(P),"0.76,0.76,0.76,0.76,0.76,0.76,0.76(T,T,T,T,T,T,T)",0.0000(T),0.031,-1.833057,3.54,2.39,-0.381000,0.253000,1.109000,0.001000,0.000000,0.001000,5.1975
missense_variant,PCM1,MISSENSE,NM_006197.3:p.Asn159Ser/c.476A>G,aAc/aGc,MODERATE,,0.690495,0.62,rs412750,1(T),"0.0,0.0,0.0(B,B,B)",,-0.9756(T),,chr8,17796382,17796382,A,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn159Ser/c.476A>G|2024|PCM1|protein_coding|CODING|NM_006197.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5685,0.6326,0.7634,0.81,0.84,0.80,,0.000074(N),0.000(P),"3.99,2.99,2.2,2.15,3.99,3.75(T,T,T,T,T,T)",0.0000(T),0.046,-1.213411,5.72,4.85,-0.213000,0.912000,1.132000,0.003000,0.511000,0.564000,13.1132
synonymous_variant,PCM1,SILENT,NM_006197.3:p.Asn159Asn/c.477C>T,aaC/aaT,LOW,,0.690495,0.62,rs454755,,,,,,chr8,17796383,17796383,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn159Asn/c.477C>T|2024|PCM1|protein_coding|CODING|NM_006197.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5685,0.6326,0.7634,0.81,0.84,0.80,,,,,,,,,,,,,,,,
missense_variant,PCM1,MISSENSE,NM_006197.3:p.Met597Val/c.1789A>G,Atg/Gtg,MODERATE,,0.692891,0.63,rs208753,0.29(T),"0.002,0.0,0.0,0.002(B,B,B,B)",1.61(L),-1.0175(T),,chr8,17814915,17814915,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met597Val/c.1789A>G|2024|PCM1|protein_coding|CODING|NM_006197.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5685,0.6297,0.7624,0.82,0.84,0.80,,0.000082(N),0.000(P),"1.59,1.59,1.59,1.59(T,T,T,T)",0.0000(T),0.036,-0.950130,5.25,-4.09,-1.333000,-1.165000,0.495000,0.021000,0.003000,0.129000,2.0179
synonymous_variant,PCM1,SILENT,NM_006197.3:p.Gly725Gly/c.2175A>C,ggA/ggC,LOW,,0.0123802,0,rs34771733,,,,,,chr8,17817657,17817657,A,C,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly725Gly/c.2175A>C|2024|PCM1|protein_coding|CODING|NM_006197.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0259,0.0427,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,PCM1,SILENT,NM_006197.3:p.Pro784Pro/c.2352C>T,ccC/ccT,LOW,COSM3763223(1),0.30631,0.1667,rs3780103,,,,,,chr8,17819572,17819572,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro784Pro/c.2352C>T|2024|PCM1|protein_coding|CODING|NM_006197.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3098,0.3184,0.5567,0.50,0.28,0.59,,,,,,,,,,,,,,,,
missense_variant,ASAH1,MISSENSE,NM_004315.4:p.Val262Ala/c.785T>C,gTc/gCc,MODERATE,,0.85024,0.8641,rs10103355,1(T),"0.001,0.0,0.001,0.001(B,B,B,B)",-2.155(N),-0.9434(T),,chr8,17918934,17918934,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val240Ala/c.719T>C|389|ASAH1|protein_coding|CODING|NM_001127505.1|10|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val262Ala/c.785T>C|411|ASAH1|protein_coding|CODING|NM_004315.4|10|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val246Ala/c.737T>C|395|ASAH1|protein_coding|CODING|NM_177924.3|10|1)","GM12878:H3K36me3,K562:H3K36me3,K562:ELF1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9714,0.9697,0.9811,0.87,0.62,0.99,,0.000001(N),1.000(P),"-1.47,-1.47,-1.19,-1.19,-1.47(T,T,T,T,T)",0.0000(T),0.061,1.101723,5.24,3.34,-0.128000,1.378000,2.684000,0.996000,1.000000,1.000000,4.2781
missense_variant,NAT1,MISSENSE,NM_001160175.3:p.Asp313Val/c.938A>T,gAt/gTt,MODERATE,,0.00119808,0,rs56172717,0.06(T),"1.0,1.0(D,D)",2.645(M),-1.1816(T),,chr8,18080308,18080308,A,T,het,"missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp251Val/c.752A>T|290|NAT1|protein_coding|CODING|NM_001160174.2|1|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp251Val/c.752A>T|290|NAT1|protein_coding|CODING|NM_000662.7|3|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp251Val/c.752A>T|290|NAT1|protein_coding|CODING|NM_001160170.3|5|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp251Val/c.752A>T|290|NAT1|protein_coding|CODING|NM_001160171.3|4|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp251Val/c.752A>T|290|NAT1|protein_coding|CODING|NM_001160172.3|5|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp251Val/c.752A>T|290|NAT1|protein_coding|CODING|NM_001160173.3|4|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp313Val/c.938A>T|352|NAT1|protein_coding|CODING|NM_001160175.3|5|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp313Val/c.938A>T|352|NAT1|protein_coding|CODING|NM_001160176.3|4|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp251Val/c.752A>T|290|NAT1|protein_coding|CODING|NM_001160179.2|5|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp313Val/c.938A>T|352|NAT1|protein_coding|CODING|NM_001291962.1|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.005,0.00,0.00,0.00,,0.000000(D),1.000(D),"4.6,4.6,4.6,4.6,4.6,4.6,4.6,4.6(T,T,T,T,T,T,T,T)",0.0288(T),0.681,1.971476,4.21,4.21,0.377000,1.679000,6.022000,0.123000,0.786000,1.000000,9.9713
synonymous_variant,NAT2,SILENT,NM_000015.2:p.Tyr94Tyr/c.282C>T,taC/taT,LOW,COSM3763232(1),0.397364,0.4395,rs1041983,,,,,,chr8,18257795,18257795,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr94Tyr/c.282C>T|290|NAT2|protein_coding|CODING|NM_000015.2|2|1),HUVEC:H3K27me3,,,,0.4284,0.2911,0.3052,0.36,0.44,0.31,,,,,,,,,,,,,,,,
missense_variant,NAT2,MISSENSE,NM_000015.2:p.Arg197Gln/c.590G>A,cGa/cAa,MODERATE,COSM3763234(1),0.264976,0.256,rs1799930,0.08(T),0.991(D),2.33(M),-0.9353(T),,chr8,18258103,18258103,G,A,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg197Gln/c.590G>A|290|NAT2|protein_coding|CODING|NM_000015.2|2|1),HUVEC:H3K27me3,,RCV000000758.1,,0.3599,0.1715,0.2823,0.28,0.27,0.29,,0.000041(D),0.002(P),"4.43,4.43(T,T)",0.0000(T),0.503,2.204474,2.51,2.51,0.436000,1.706000,1.291000,0.021000,0.990000,0.068000,8.6215
missense_variant,NAT2,MISSENSE,NM_000015.2:p.Arg268Lys/c.803G>A,aGa/aAa,MODERATE,,0.677117,0.9603,rs1208,1(T),0.002(B),,-0.9967(T),,chr8,18258316,18258316,G,A,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg268Lys/c.803G>A|290|NAT2|protein_coding|CODING|NM_000015.2|2|1),HUVEC:H3K27me3,,RCV000000760.1,,0.637,0.6268,0.5616,0.58,0.60,0.58,,0.105043(N),1.000(P),"4.7,4.7(T,T)",0.0000(T),0.032,-2.883121,2.71,1.54,-0.665000,0.047000,0.588000,0.037000,0.002000,0.375000,4.6966
missense_variant,PSD3,MISSENSE,NM_015310.3:p.Leu987Phe/c.2959C>T,Ctc/Ttc,MODERATE,,,,,0(D),"0.999,0.999,0.998,0.999(D,D,D,D)",2.675(M),-0.3194(T),,chr8,18393438,18393438,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu987Phe/c.2959C>T|1047|PSD3|protein_coding|CODING|NM_015310.3|16|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu453Phe/c.1357C>T|513|PSD3|protein_coding|CODING|NM_206909.2|13|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.003058(U),1.000(D),"1.42,1.43,0.72,1.41(T,T,T,T)",0.3462(T),0.773,3.491913,5.8,5.8,0.655000,2.733000,3.477000,0.401000,0.207000,1.000000,17.5408
missense_variant,PSD3,MISSENSE,NM_015310.3:p.Thr186Met/c.557C>T,aCg/aTg,MODERATE,,0.852835,0.9772,rs7016219,0.21(T),0.022(B),0.345(N),-0.9769(T),,chr8,18729817,18729817,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr186Met/c.557C>T|1047|PSD3|protein_coding|CODING|NM_015310.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8456,0.8012,0.671,0.41,0.57,0.34,,0.000147(N),1.000(P),"1.45,1.45,1.45(T,T,T)",0.0000(T),0.043,-0.193517,6.06,-4.68,-2.194000,-1.324000,-0.637000,0.163000,0.000000,0.000000,9.0309
missense_variant,PSD3,MISSENSE,NM_015310.3:p.Thr186Pro/c.556A>C,Acg/Ccg,MODERATE,,0.855631,0.9782,rs7003060,0.33(T),0.0(B),-0.205(N),-0.9809(T),,chr8,18729818,18729818,T,G,hom,missense_variant(MODERATE|MISSENSE|Acg/Ccg|p.Thr186Pro/c.556A>C|1047|PSD3|protein_coding|CODING|NM_015310.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8487,0.8012,0.671,0.26,0.34,0.22,,0.000147(N),1.000(P),"1.47,1.47,1.47(T,T,T)",0.0000(T),0.053,0.259169,6.06,-3.96,-0.121000,-1.736000,-0.072000,0.191000,0.000000,0.000000,1.0419
missense_variant,SH2D4A,MISSENSE,NM_001174159.1:p.Ser275Asn/c.824G>A,aGc/aAc,MODERATE,,0.177915,0.0595,rs34608771,0.58(T),"0.003,0.002(B,B)",0.845(L),-1.0770(T),,chr8,19221700,19221700,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser275Asn/c.824G>A|454|SH2D4A|protein_coding|CODING|NM_001174159.1|7|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser230Asn/c.689G>A|409|SH2D4A|protein_coding|CODING|NM_001174160.1|6|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser275Asn/c.824G>A|454|SH2D4A|protein_coding|CODING|NM_022071.3|7|1)","GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2372,0.2378,0.3072,0.25,0.13,0.31,,0.358071(N),1.000(P),"2.62,-3.45,2.62(T,D,T)",0.0000(T),0.036,1.596322,5.75,3.94,0.563000,0.754000,0.087000,0.008000,0.006000,0.001000,7.9302
synonymous_variant,CSGALNACT1,SILENT,NM_001130518.1:p.His234His/c.702C>T,caC/caT,LOW,COSM1455949(1),0.458866,0.8581,rs12155539,,,,,,chr8,19316086,19316086,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His234His/c.702C>T|532|CSGALNACT1|protein_coding|CODING|NM_001130518.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His234His/c.702C>T|532|CSGALNACT1|protein_coding|CODING|NM_018371.4|5|1),non_coding_exon_variant(MODIFIER|||n.1148C>T||CSGALNACT1||CODING|NR_024040.1|4|1)","CD4:H2BK5ac,HepG2:p300,CD4:H4K91ac,CD4:DNase1,GM12878:H3K36me3,HepG2:H3K27ac,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,CD4:H4K5ac,HepG2:DNase1",,,,0.4376,0.5576,0.3519,0.31,0.22,0.36,,,,,,,,,,,,,,,,
missense_variant,CSGALNACT1,MISSENSE,NM_001130518.1:p.Ser193Asn/c.578G>A,aGt/aAt,MODERATE,COSM4162882(1),0.754792,0.8601,rs386606653,0.89(T),0.002(B),-0.325(N),-0.9738(T),,chr8,19362768,19362768,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser193Asn/c.578G>A|532|CSGALNACT1|protein_coding|CODING|NM_001130518.1|4|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser193Asn/c.578G>A|532|CSGALNACT1|protein_coding|CODING|NM_018371.4|4|1),non_coding_exon_variant(MODIFIER|||n.1024G>A||CSGALNACT1||CODING|NR_024040.1|3|1)","GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7014,0.8602,0.7962,0.74,0.62,0.81,,0.148636(N),1.000(P),"2.48,2.48,2.48,2.48,2.48(T,T,T,T,T)",0.0000(T),0.016,-1.610305,5.74,-3.65,-1.320000,-0.691000,-0.841000,0.186000,0.863000,0.000000,14.5142
synonymous_variant,INTS10,SILENT,NM_018142.2:p.Arg109Arg/c.327G>A,cgG/cgA,LOW,COSM3763240(1),0.24381,0.2927,rs7822495,,,,,,chr8,19677915,19677915,G,A,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg109Arg/c.327G>A|710|INTS10|protein_coding|CODING|NM_018142.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.2781,0.169,0.20,0.26,0.18,,,,,,,,,,,,,,,,
synonymous_variant,LPL,SILENT,NM_000237.2:p.Thr388Thr/c.1164C>A,acC/acA,LOW,,0.152556,0.1121,rs316,,,,,,chr8,19818436,19818436,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr388Thr/c.1164C>A|475|LPL|protein_coding|CODING|NM_000237.2|8|1),IMR90:H3K27me3,,,,0.1186,0.1455,0.1203,0.16,0.23,0.12,,,,,,,,,,,,,,,,
missense_variant,LPL,MISSENSE,NM_000237.2:p.Gly436Glu/c.1307G>A,gGa/gAa,MODERATE,,,,,,0.999(D),2.81(M),0.8062(D),,chr8,19818579,19818579,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly436Glu/c.1307G>A|475|LPL|protein_coding|CODING|NM_000237.2|8|1),IMR90:H3K27me3,,,,,,,,,,,0.000000(D),0.999(D),-2.57(D),0.8474(D),0.812,4.706895,6.07,6.07,0.655000,2.885000,9.382000,0.803000,1.000000,1.000000,18.1531
stop_gained,LPL,NONSENSE,NM_000237.2:p.Ser474*/c.1421C>G,tCa/tGa,HIGH,,0.0924521,0.122,rs328,,,,,,chr8,19819724,19819724,C,G,het,stop_gained(HIGH|NONSENSE|tCa/tGa|p.Ser474*/c.1421C>G|475|LPL|protein_coding|CODING|NM_000237.2|9|1),"H1ESC:DNase1,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1","Triglycerides,HDL_cholesterol,Triglycerides,Triglycerides",RCV000001598.1,,0.0859,0.0634,0.1302,0.09,0.07,0.10,,0.621066(N),0.947(P),,,.,9.203276,5.89,4.01,0.655000,2.793000,0.684000,0.994000,1.000000,0.980000,7.5989
missense_variant,SLC18A1,MISSENSE,NM_001135691.2:p.Ile136Thr/c.407T>C,aTt/aCt,MODERATE,,0.744209,0.7113,rs1390938,0.28(T),"0.0,0.021,0.001(B,B,B)",-0.695(N),-0.9901(T),,chr8,20036713,20036713,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile136Thr/c.407T>C|525|SLC18A1|protein_coding|CODING|NM_001135691.2|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile136Thr/c.407T>C|493|SLC18A1|protein_coding|CODING|NM_001142324.1|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile136Thr/c.407T>C|472|SLC18A1|protein_coding|CODING|NM_001142325.1|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile136Thr/c.407T>C|525|SLC18A1|protein_coding|CODING|NM_003053.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6585,0.5634,0.7465,0.81,0.91,0.76,,0.000000(D),0.999(P),"0.36,0.36,0.36,0.36,0.36,0.36,3.84(T,T,T,T,T,T,T)",0.0000(T),0.336,3.066281,5.95,5.95,-0.257000,1.080000,5.544000,0.091000,0.828000,1.000000,10.9342
synonymous_variant,LZTS1,SILENT,NM_021020.3:p.Glu267Glu/c.801G>A,gaG/gaA,LOW,COSM3982461(1),0.358626,0.4623,rs2645386,,,,,,chr8,20110641,20110641,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu267Glu/c.801G>A|596|LZTS1|protein_coding|CODING|NM_021020.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3517,0.2205,0.3231,0.37,0.40,0.35,,,,,,,,,,,,,,,,
missense_variant,GFRA2,MISSENSE,NM_001495.4:p.Leu462Gln/c.1385T>A,cTg/cAg,MODERATE,COSM3982465(1),0.372005,0.4296,rs1128397,0.06(T),"0.804,0.855,0.879(P,P,P)",1.87(L),-0.9312(T),,chr8,21550800,21550800,A,T,hom,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu357Gln/c.1070T>A|359|GFRA2|protein_coding|CODING|NM_001165038.1|8|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu329Gln/c.986T>A|331|GFRA2|protein_coding|CODING|NM_001165039.1|7|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu462Gln/c.1385T>A|464|GFRA2|protein_coding|CODING|NM_001495.4|9|1)","NH-A:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3599,0.3228,0.4026,0.38,0.33,0.40,,0.002616(N),0.037(P),"1.61,1.19,1.61,1.14,1.19(T,T,T,T,T)",0.0000(T),0.234,3.462459,5.34,2.85,0.528000,0.299000,2.372000,0.739000,0.516000,0.999000,9.6789
synonymous_variant,FAM160B2,SILENT,NM_022749.5:p.Val129Val/c.387C>T,gtC/gtT,LOW,COSM4162899(1),0.370407,0.374,rs11352,,,,,,chr8,21955116,21955116,C,T,hom,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val129Val/c.387C>T|743|FAM160B2|protein_coding|CODING|NM_022749.5|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4346,0.2594,0.3946,0.39,0.34,0.41,,,,,,,,,,,,,,,,
missense_variant,FAM160B2,MISSENSE,NM_022749.5:p.Thr315Ala/c.943A>G,Acc/Gcc,MODERATE,COSM454297(2),0.378395,0.377,rs35497596,0.34(T),0.013(B),0.895(L),-0.9941(T),,chr8,21956108,21956108,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr315Ala/c.943A>G|743|FAM160B2|protein_coding|CODING|NM_022749.5|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4376,0.2723,0.4026,0.39,0.34,0.42,,0.495270(N),1.000(P),0.01(T),0.0000(T),0.006,1.455570,5.37,-6.05,-1.016000,-1.577000,-0.607000,0.768000,0.000000,0.000000,10.6218
synonymous_variant,HR,SILENT,NM_005144.4:p.Pro1113Pro/c.3339C>A,ccC/ccA,LOW,COSM3763248(2),0.0357428,0.001,rs112173147,,,,,,chr8,21974427,21974427,G,T,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1113Pro/c.3339C>A|1189|HR|protein_coding|CODING|NM_005144.4|17|1),intron_variant(MODIFIER|||c.3214-486C>A|1134|HR|protein_coding|CODING|NM_018411.4|16|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0736,0.0346,0.0755,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,HR,SILENT,NM_005144.4:p.Phe435Phe/c.1305T>C,ttT/ttC,LOW,COSM454302(1),0.579273,0.3948,rs12675745,,,,,,chr8,21984650,21984650,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe435Phe/c.1305T>C|1189|HR|protein_coding|CODING|NM_005144.4|3|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe435Phe/c.1305T>C|1134|HR|protein_coding|CODING|NM_018411.4|3|1)","GM06990:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6616,0.4914,0.5984,0.65,0.71,0.62,,,,,,,,,,,,,,,,
missense_variant,HR,MISSENSE,NM_005144.4:p.Gly337Asp/c.1010G>A,gGt/gAt,MODERATE,COSM454303(1),0.296326,0.372,rs12675375,0.98(T),"0.011,0.005(B,B)",0.55(N),-1.0065(T),,chr8,21984945,21984945,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly337Asp/c.1010G>A|1189|HR|protein_coding|CODING|NM_005144.4|3|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly337Asp/c.1010G>A|1134|HR|protein_coding|CODING|NM_018411.4|3|1)","GM06990:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4254,0.2118,0.2952,0.28,0.20,0.32,,0.321271(N),1.000(P),"-0.45,-0.45(T,T)",0.0000(T),0.05,0.635780,5.79,1.65,-0.502000,0.009000,0.573000,0.638000,0.000000,0.000000,4.6009
missense_variant,SFTPC,MISSENSE,NM_001172410.1:p.Thr138Asn/c.413C>A,aCt/aAt,MODERATE,COSM3763249(1),0.197484,0.2688,rs386594846,0.09(T),"0.761,0.004,0.602(P,B,P)",,-1.1434(T),,chr8,22021037,22021037,C,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr138Asn/c.413C>A|191|SFTPC|protein_coding|CODING|NM_001172357.1|4|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr138Asn/c.413C>A|197|SFTPC|protein_coding|CODING|NM_001172410.1|4|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr138Asn/c.413C>A|197|SFTPC|protein_coding|CODING|NM_003018.3|4|1),upstream_gene_variant(MODIFIER||1616||730|BMP1|protein_coding|CODING|NM_001199.3||1),upstream_gene_variant(MODIFIER||1616||986|BMP1|protein_coding|CODING|NM_006129.4||1),upstream_gene_variant(MODIFIER||1616|||BMP1||CODING|NR_033403.1||1),upstream_gene_variant(MODIFIER||1616|||BMP1||CODING|NR_033404.1||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2413,0.2507,0.2644,0.21,0.06,0.27,,0.148061(N),1.000(P),"-1.3,-1.3,-1.3,-1.3,-1.3,-1.3,-1.3(T,T,T,T,T,T,T)",0.0001(T),0.147,3.740275,5.49,2.47,0.655000,0.200000,0.920000,0.922000,0.423000,0.001000,7.5391
missense_variant,SFTPC,MISSENSE,NM_001172410.1:p.Ser186Asn/c.557G>A,aGc/aAc,MODERATE,COSM3763250(1),0.236022,0.3006,rs1124,0.38(T),0.004(B),,-1.0597(T),,chr8,22021517,22021517,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser186Asn/c.557G>A|197|SFTPC|protein_coding|CODING|NM_001172410.1|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser186Asn/c.557G>A|197|SFTPC|protein_coding|CODING|NM_003018.3|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser180Asn/c.539G>A|191|SFTPC|protein_coding|CODING|NM_001172357.1|5|1),upstream_gene_variant(MODIFIER||1136||730|BMP1|protein_coding|CODING|NM_001199.3||1),upstream_gene_variant(MODIFIER||1136||986|BMP1|protein_coding|CODING|NM_006129.4||1),upstream_gene_variant(MODIFIER||1136|||BMP1||CODING|NR_033403.1||1),upstream_gene_variant(MODIFIER||1136|||BMP1||CODING|NR_033404.1||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2648,0.2695,0.3211,0.26,0.11,0.33,,0.245165(N),0.000(P),"-1.24,-1.24,-1.24(T,T,T)",0.0000(T),0.022,2.762010,5.5,2.33,-0.145000,0.695000,0.610000,0.927000,0.980000,0.398000,5.3591
synonymous_variant,BMP1,SILENT,NM_006129.4:p.Thr521Thr/c.1563G>A,acG/acA,LOW,,,,,,,,,,chr8,22052356,22052356,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr521Thr/c.1563G>A|730|BMP1|protein_coding|CODING|NM_001199.3|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr521Thr/c.1563G>A|986|BMP1|protein_coding|CODING|NM_006129.4|12|1),non_coding_exon_variant(MODIFIER|||n.1866G>A||BMP1||CODING|NR_033403.1|12|1),non_coding_exon_variant(MODIFIER|||n.1866G>A||BMP1||CODING|NR_033404.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PHYHIP,SILENT,NM_001099335.1:p.Ser168Ser/c.504T>C,agT/agC,LOW,COSM3763252(1),0.997204,0.9861,rs4872422,,,,,,chr8,22079355,22079355,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser168Ser/c.504T>C|330|PHYHIP|protein_coding|CODING|NM_001099335.1|6|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser168Ser/c.504T>C|330|PHYHIP|protein_coding|CODING|NM_014759.3|5|1)",H1ESC:H3K36me3,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PHYHIP,SILENT,NM_001099335.1:p.Thr71Thr/c.213G>A,acG/acA,LOW,,0.000399361,0,rs35170161,,,,,,chr8,22084491,22084491,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr71Thr/c.213G>A|330|PHYHIP|protein_coding|CODING|NM_001099335.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr71Thr/c.213G>A|330|PHYHIP|protein_coding|CODING|NM_014759.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K4me1",,,,0,0,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,PHYHIP,SILENT,NM_001099335.1:p.Pro67Pro/c.201G>A,ccG/ccA,LOW,,0.322484,0.2044,rs11547656,,,,,,chr8,22084503,22084503,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro67Pro/c.201G>A|330|PHYHIP|protein_coding|CODING|NM_001099335.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro67Pro/c.201G>A|330|PHYHIP|protein_coding|CODING|NM_014759.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K4me1",,,,0.4325,0.3401,0.4304,0.36,0.25,0.41,,,,,,,,,,,,,,,,
synonymous_variant,POLR3D,SILENT,NM_001722.2:p.Ala114Ala/c.342T>C,gcT/gcC,LOW,,0.707867,0.8264,rs1126677,,,,,,chr8,22105502,22105502,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala114Ala/c.342T>C|398|POLR3D|protein_coding|CODING|NM_001722.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8834,0.7565,0.7237,0.62,0.48,0.69,,,,,,,,,,,,,,,,
missense_variant,SORBS3,MISSENSE,NM_005775.4:p.Ile556Thr/c.1667T>C,aTc/aCc,MODERATE,COSM3750126(5),0.907548,1,rs2449331,0.91(T),0.0(B),-2.045(N),-0.9776(T),,chr8,22428658,22428658,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile214Thr/c.641T>C|329|SORBS3|protein_coding|CODING|NM_001018003.2|7|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile556Thr/c.1667T>C|671|SORBS3|protein_coding|CODING|NM_005775.4|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9693,0.9524,0.9602,0.88,0.75,0.95,,0.030168(N),1.000(P),"3.45,3.32,2.89,2.66(T,T,T,T)",0.0000(T),0.489,-2.291552,5.56,4.68,-0.213000,0.726000,1.483000,0.046000,0.018000,0.001000,7.6894
missense_variant,PDLIM2,MISSENSE,NM_021630.5:p.Pro130Leu/c.389C>T,cCc/cTc,MODERATE,,0.150958,0.1062,rs11545016,1(T),,,-0.9353(T),,chr8,22436681,22436681,C,T,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro130Leu/c.389C>T|602|PDLIM2|protein_coding|CODING|NM_021630.5|1|1),upstream_gene_variant(MODIFIER||1306||366|PDLIM2|protein_coding|CODING|NM_176871.3||1),upstream_gene_variant(MODIFIER||1306||278|PDLIM2|protein_coding|CODING|NM_198042.3||1)","NHEK:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,GM12878:ZEB1,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,CD4:PolII,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2086,0.1729,0.2008,,,,,,1.000(P),3.01(T),0.0000(T),0.112,-0.213022,4.42,0.789,-0.381000,-0.010000,0.424000,0.017000,0.001000,0.080000,3.7646
synonymous_variant,PDLIM2,SILENT,NM_021630.5:p.Ala399Ala/c.1197A>G,gcA/gcG,LOW,COSM3763256(1),0.584065,0.4673,rs2294047,,,,,,chr8,22442661,22442661,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala399Ala/c.1197A>G|602|PDLIM2|protein_coding|CODING|NM_021630.5|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala149Ala/c.447A>G|366|PDLIM2|protein_coding|CODING|NM_176871.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala149Ala/c.447A>G|278|PDLIM2|protein_coding|CODING|NM_198042.3|4|1)","HeLa-S3:DNase1,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,IMR90:H3K27ac,HeLa-S3:Ap2alpha,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.6166,0.6527,0.6123,0.60,0.60,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CCAR2,SILENT,NM_021174.5:p.Gly28Gly/c.84C>T,ggC/ggT,LOW,,0.303514,0.2103,rs7843828,,,,-1.0416(T),,chr8,22463623,22463623,C,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly28Gly/c.84C>T|923|CCAR2|protein_coding|CODING|NM_021174.5|3|1),downstream_gene_variant(MODIFIER||1961||365|C8orf58|protein_coding|CODING|NM_001013842.2||1),downstream_gene_variant(MODIFIER||1961||300|C8orf58|protein_coding|CODING|NM_001198827.1||1),downstream_gene_variant(MODIFIER||1961||357|C8orf58|protein_coding|CODING|NM_173686.2||1),non_coding_exon_variant(MODIFIER|||n.333C>T||CCAR2||CODING|NR_033902.1|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HeLa-S3:H3K79me2,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,NH-A:H3K36me3,NHEK:H3K4me1,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,IMR90:H3K79me2",,,,0.4018,0.3285,0.336,0.31,0.28,0.33,,,0.000(P),,0.0000(T),.,1.252727,5.45,-7.62,-0.152000,-1.730000,-1.986000,0.995000,0.529000,0.029000,9.4666
synonymous_variant,CCAR2,SILENT,NM_021174.5:p.Ser308Ser/c.924G>A,tcG/tcA,LOW,,0.269369,0.256,rs3736147,,,,,,chr8,22471824,22471824,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser308Ser/c.924G>A|923|CCAR2|protein_coding|CODING|NM_021174.5|9|1),non_coding_exon_variant(MODIFIER|||n.1173G>A||CCAR2||CODING|NR_033902.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4029,0.3026,0.335,0.26,0.14,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CCAR2,SILENT,NM_021174.5:p.Ala871Ala/c.2613C>T,gcC/gcT,LOW,,0.00459265,0,rs75182495,,,,-0.7206(T),,chr8,22476754,22476754,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala871Ala/c.2613C>T|923|CCAR2|protein_coding|CODING|NM_021174.5|20|1),downstream_gene_variant(MODIFIER||1193||253|BIN3|protein_coding|CODING|NM_018688.4||1),non_coding_exon_variant(MODIFIER|||n.2862C>T||CCAR2||CODING|NR_033902.1|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0043,0.0179,0.01,0.00,0.01,,,1.000(D),,0.0794(T),.,0.373145,5.55,-11.1,-0.907000,-5.245000,-5.831000,0.472000,0.004000,0.000000,3.9754
synonymous_variant,BIN3,SILENT,NM_018688.4:p.Phe198Phe/c.594T>C,ttT/ttC,LOW,COSM3763260(1),0.497204,0.3978,rs1871900,,,,,,chr8,22481449,22481449,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe198Phe/c.594T>C|253|BIN3|protein_coding|CODING|NM_018688.4|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5818,0.3977,0.4394,0.46,0.54,0.42,,,,,,,,,,,,,,,,
missense_variant,PEBP4,MISSENSE,NM_144962.2:p.Lys125Glu/c.373A>G,Aaa/Gaa,MODERATE,COSM150467(3),0.498602,0.2798,rs1129474,0.17(T),0.022(B),0.66(N),-0.9283(T),,chr8,22584718,22584718,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys125Glu/c.373A>G|227|PEBP4|protein_coding|CODING|NM_144962.2|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3681,0.5749,0.4672,0.55,0.70,0.48,,0.418228(N),1.000(P),1.02(T),0.0000(T),0.062,1.747447,4.47,3.31,0.482000,1.783000,0.388000,0.019000,0.210000,0.018000,6.1388
synonymous_variant,RHOBTB2,SILENT,NM_001160036.1:p.Ser310Ser/c.930T>C,tcT/tcC,LOW,,0.88099,0.9514,rs2466178,,,,,,chr8,22864622,22864622,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser310Ser/c.930T>C|749|RHOBTB2|protein_coding|CODING|NM_001160036.1|7|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser295Ser/c.885T>C|734|RHOBTB2|protein_coding|CODING|NM_001160037.1|5|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser288Ser/c.864T>C|727|RHOBTB2|protein_coding|CODING|NM_015178.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.862,0.8862,0.8489,0.85,0.87,0.84,,,,,,,,,,,,,,,,
missense_variant,TNFRSF10B,MISSENSE,NM_003842.4:p.Val191Ala/c.572T>C,gTc/gCc,MODERATE,,0.862819,0.9861,rs13265018,0.62(T),0.0(B),-0.205(N),-1.0020(T),,chr8,22886020,22886020,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val191Ala/c.572T>C|440|TNFRSF10B|protein_coding|CODING|NM_003842.4|5|1),intron_variant(MODIFIER|||c.550+22T>C|411|TNFRSF10B|protein_coding|CODING|NM_147187.2|5|1),intron_variant(MODIFIER|||n.737+22T>C||TNFRSF10B||CODING|NR_027140.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8671,0.879,0.8976,0.85,0.76,0.90,,,1.000(P),-1.64(D),0.0000(T),0.006,-1.668997,3.09,0.0155,-2.318000,-0.485000,0.086000,0.001000,0.000000,0.000000,4.9773
missense_variant,TNFRSF10B,MISSENSE,NM_003842.4:p.Ala67Val/c.200C>T,gCg/gTg,MODERATE,,0.0998403,0.2867,rs1047266,1(T),"0.951,0.978(D,D)",0.175(N),-0.7208(T),,chr8,22900701,22900701,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala67Val/c.200C>T|440|TNFRSF10B|protein_coding|CODING|NM_003842.4|2|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala67Val/c.200C>T|411|TNFRSF10B|protein_coding|CODING|NM_147187.2|2|1),intron_variant(MODIFIER|||n.438-12316C>T||TNFRSF10B||CODING|NR_027140.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0378,0.1542,0.0616,0.05,0.02,0.07,,0.000023(U),0.998(P),"-1.8,-2.01(D,D)",0.0001(T),0.043,1.521897,2.57,2.57,0.563000,1.744000,-0.116000,0.002000,0.003000,0.000000,8.7945
missense_variant,TNFRSF10B,MISSENSE,NM_003842.4:p.Pro32Leu/c.95C>T,cCc/cTc,MODERATE,,0.749401,0.9107,rs1129424,0.82(T),"0.0,0.0(B,B)",-1.65(N),-0.9964(T),,chr8,22926313,22926313,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro32Leu/c.95C>T|440|TNFRSF10B|protein_coding|CODING|NM_003842.4|1|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro32Leu/c.95C>T|411|TNFRSF10B|protein_coding|CODING|NM_147187.2|1|1),intron_variant(MODIFIER|||n.192+380G>A||LOC286059||NON_CODING|NR_038873.1|1|1),non_coding_exon_variant(MODIFIER|||n.388C>T||TNFRSF10B||CODING|NR_027140.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.7096,0.7493,0.5924,0.65,0.75,0.60,,0.258310(N),1.000(P),"-1.44,-1.69(T,D)",0.0000(T),0.025,-1.358005,1.32,0.126,-0.521000,-0.291000,-0.111000,0.001000,0.001000,0.000000,4.2483
missense_variant,TNFRSF10D,MISSENSE,NM_003840.4:p.Leu310Ser/c.929T>C,tTg/tCg,MODERATE,COSM4162923(1),0.700879,0.9077,rs1133782,0.12(T),,,-0.9619(T),,chr8,23001988,23001988,A,G,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu310Ser/c.929T>C|386|TNFRSF10D|protein_coding|CODING|NM_003840.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7935,0.7147,0.5984,0.59,0.56,0.60,,0.591827(N),1.000(P),-1.26(T),0.0000(T),0.026,-2.411191,1.79,-0.341,-1.403000,-0.503000,-3.687000,0.001000,0.000000,0.000000,2.8055
missense_variant,TNFRSF10D,MISSENSE,NM_003840.4:p.Pro35Ser/c.103C>T,Ccc/Tcc,MODERATE,,0.259984,0.5655,rs11135703,0.3(T),0.879(P),1.895(L),-0.9786(T),,chr8,23021346,23021346,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro35Ser/c.103C>T|386|TNFRSF10D|protein_coding|CODING|NM_003840.4|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,NHEK:PolII,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K14ac,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.1227,0.33,0.1133,0.15,0.21,0.11,,0.755623(U),1.000(P),-1.55(D),0.0000(T),0.099,1.810184,1.3,0.373,0.462000,0.110000,0.836000,0.006000,0.001000,0.007000,3.6311
missense_variant,TNFRSF10A,MISSENSE,NM_003844.3:p.Arg441Lys/c.1322G>A,aGa/aAa,MODERATE,,0.91254,0.9772,rs2230229,1(T),0.0(B),-1.53(N),-0.9915(T),,chr8,23049292,23049292,C,T,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg441Lys/c.1322G>A|468|TNFRSF10A|protein_coding|CODING|NM_003844.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.954,0.902,0.8628,0.85,0.86,0.85,,0.422740(N),1.000(P),-2.0(D),0.0000(T),0.025,-0.851516,3.43,-2.61,-0.521000,-0.983000,-0.512000,0.003000,0.000000,0.000000,6.4331
missense_variant,TNFRSF10A,MISSENSE,NM_003844.3:p.Glu228Ala/c.683A>C,gAg/gCg,MODERATE,COSM3735900(3),0.0816693,0.0119,rs20576,0.08(T),0.193(B),1.04(L),-1.0006(T),,chr8,23058220,23058220,T,G,het,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu228Ala/c.683A>C|468|TNFRSF10A|protein_coding|CODING|NM_003844.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0746,0.1441,0.2157,0.15,0.05,0.20,,0.795710(N),1.000(P),"-2.89,1.49(D,T)",0.0011(T),0.157,1.199087,3.18,0.625,-1.151000,0.010000,0.872000,0.000000,0.000000,0.004000,5.2334
missense_variant,LOXL2,MISSENSE,NM_002318.2:p.Met570Leu/c.1708A>C,Atg/Ctg,MODERATE,,0.778954,0.744,rs1063582,0.99(T),"0.005,0.009(B,B)",-0.245(N),-0.9717(T),,chr8,23167353,23167353,T,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met570Leu/c.1708A>C|774|LOXL2|protein_coding|CODING|NM_002318.2|10|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9029,0.8242,0.8002,0.74,0.69,0.77,,0.000026(N),0.479(P),1.65(T),0.0000(T),0.163,1.400809,5.67,-0.169,0.459000,0.036000,0.012000,0.990000,0.994000,0.956000,6.4639
synonymous_variant,LOXL2,SILENT,NM_002318.2:p.Glu346Glu/c.1038A>G,gaA/gaG,LOW,COSM3982474(1),0.567093,0.506,rs1051146,,,,-0.9799(T),,chr8,23186007,23186007,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu346Glu/c.1038A>G|774|LOXL2|protein_coding|CODING|NM_002318.2|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6237,0.5274,0.7505,0.66,0.50,0.74,,,0.000(P),,0.0000(T),.,1.597442,5.38,-1.42,0.379000,-0.190000,-0.127000,0.979000,0.997000,0.733000,11.2762
synonymous_variant,LOXL2,SILENT,NM_002318.2:p.Ser313Ser/c.939A>G,tcA/tcG,LOW,COSM3982475(1),0.412141,0.4742,rs1010156,,,,-1.0050(T),,chr8,23190941,23190941,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser313Ser/c.939A>G|774|LOXL2|protein_coding|CODING|NM_002318.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3436,0.3948,0.5537,0.49,0.34,0.57,,,0.001(P),,0.0000(T),.,0.386253,5.93,-11.9,-0.763000,-2.452000,-5.057000,0.419000,0.327000,0.000000,6.4863
synonymous_variant,LOXL2,SILENT,NM_002318.2:p.Tyr102Tyr/c.306C>T,taC/taT,LOW,,0.101637,0.0585,rs1063577,,,,,,chr8,23225559,23225559,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr102Tyr/c.306C>T|774|LOXL2|protein_coding|CODING|NM_002318.2|2|1),downstream_gene_variant(MODIFIER||1921|||LOC100507156||NON_CODING|NR_038323.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0726,0.2349,0.2048,0.14,0.05,0.18,,,,,,,,,,,,,,,,
synonymous_variant,ENTPD4,SILENT,NM_004901.4:p.Pro539Pro/c.1617A>G,ccA/ccG,LOW,,0.104633,0.0565,rs1142283,,,,,,chr8,23291835,23291835,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro531Pro/c.1593A>G|608|ENTPD4|protein_coding|CODING|NM_001128930.2|12|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro539Pro/c.1617A>G|616|ENTPD4|protein_coding|CODING|NM_004901.4|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0767,0.2305,0.1779,0.14,0.07,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A37,SILENT,NM_016612.2:p.Pro116Pro/c.348G>A,ccG/ccA,LOW,COSM3982477(1),0.405551,0.372,rs10992,,,,,,chr8,23423758,23423758,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro116Pro/c.348G>A|338|SLC25A37|protein_coding|CODING|NM_016612.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.502,0.5317,0.6551,0.54,0.23,0.68,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A37,SILENT,NM_016612.2:p.Phe326Phe/c.978T>C,ttT/ttC,LOW,COSM4162928(1),0.131589,0.2073,rs1047384,,,,,,chr8,23429329,23429329,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe326Phe/c.978T>C|338|SLC25A37|protein_coding|CODING|NM_016612.2|4|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.0736,0.1643,0.0368,0.07,0.15,0.04,,,,,,,,,,,,,,,,
synonymous_variant,NKX2-6,SILENT,NM_001136271.2:p.Asp68Asp/c.204T>C,gaT/gaC,LOW,COSM4162930(1),0.166733,0.2044,rs386507556,,,,,,chr8,23563908,23563908,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp68Asp/c.204T>C|301|NKX2-6|protein_coding|CODING|NM_001136271.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2004,0.2003,0.2048,0.17,0.09,0.20,,,,,,,,,,,,,,,,
missense_variant,ADAM28,MISSENSE,NM_014265.4:p.Val765Met/c.2293G>A,Gtg/Atg,MODERATE,,0.967053,1,rs7814768,0.38(T),0.001(B),-0.895(N),-1.0167(T),,chr8,24211331,24211331,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val765Met/c.2293G>A|775|ADAM28|protein_coding|CODING|NM_014265.4|22|1),,,,,0.9448,0.9914,0.999,0.98,0.94,1.00,,,1.000(P),4.8(T),0.0000(T),0.026,-1.091269,4.48,-1.87,-0.352000,-0.631000,0.095000,0.000000,0.000000,0.000000,10.575
synonymous_variant,ADAMDEC1,SILENT,NM_014479.3:p.Ser282Ser/c.846C>T,agC/agT,LOW,,0.292931,0.2034,rs2291577,,,,,,chr8,24256470,24256470,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser203Ser/c.609C>T|391|ADAMDEC1|protein_coding|CODING|NM_001145271.1|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser203Ser/c.609C>T|391|ADAMDEC1|protein_coding|CODING|NM_001145272.1|8|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser282Ser/c.846C>T|470|ADAMDEC1|protein_coding|CODING|NM_014479.3|9|1)",,,,,0.4018,0.4539,0.4235,0.34,0.15,0.44,,,,,,,,,,,,,,,,
missense_variant,ADAMDEC1,MISSENSE,NM_014479.3:p.Asn444Ser/c.1331A>G,aAt/aGt,MODERATE,,0.294928,0.2044,rs3765124,0.39(T),0.458(P),1.54(L),-0.9021(T),,chr8,24261526,24261526,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn365Ser/c.1094A>G|391|ADAMDEC1|protein_coding|CODING|NM_001145271.1|14|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn365Ser/c.1094A>G|391|ADAMDEC1|protein_coding|CODING|NM_001145272.1|12|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn444Ser/c.1331A>G|470|ADAMDEC1|protein_coding|CODING|NM_014479.3|13|1)",,,,,0.4049,0.4553,0.4284,0.34,0.15,0.44,,0.145891(N),1.000(P),"2.76,2.76,2.76(T,T,T)",0.0000(T),0.02,1.119311,5.6,0.414,-0.388000,-0.144000,0.317000,0.002000,0.000000,0.000000,8.0431
missense_variant,ADAM7,MISSENSE,NM_003817.3:p.Val244Met/c.730G>A,Gtg/Atg,MODERATE,,0.261382,0.1875,rs13255694,0(D),"1.0,1.0(D,D)",3.595(H),-1.1308(T),,chr8,24339679,24339679,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val244Met/c.730G>A|754|ADAM7|protein_coding|CODING|NM_003817.3|9|1),,,,,0.3937,0.428,0.3032,0.26,0.13,0.33,,0.000147(D),0.000(P),"-0.7,-0.7,-0.7(T,T,T)",0.0000(T),0.427,3.357026,5.63,5.63,0.655000,2.652000,4.064000,0.429000,0.990000,1.000000,15.176
missense_variant,ADAM7,MISSENSE,NM_003817.3:p.Asn638His/c.1912A>C,Aat/Cat,MODERATE,COSM4162931(1),0.326278,0.1935,rs13259668,0.66(T),"0.001,0.001(B,B)",0.81(L),-0.9879(T),,chr8,24356818,24356818,A,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn638His/c.1912A>C|754|ADAM7|protein_coding|CODING|NM_003817.3|17|1),,,,,0.41,0.4452,0.3062,0.33,0.32,0.33,,0.059785(N),1.000(P),"1.48,1.49,0.6(T,T,T)",0.0000(T),0.042,-0.988090,4.92,-4.36,-1.782000,-0.866000,-1.275000,0.001000,0.000000,0.000000,3.2326
synonymous_variant,ADAM7,SILENT,NM_003817.3:p.Leu729Leu/c.2187G>A,ctG/ctA,LOW,COSM1456216(1),0.264776,0.1885,rs13277171,,,,,,chr8,24359068,24359068,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu729Leu/c.2187G>A|754|ADAM7|protein_coding|CODING|NM_003817.3|20|1),HUVEC:H3K27me3,,,,0.409,0.428,0.3042,0.26,0.13,0.33,,,,,,,,,,,,,,,,
missense_variant,NEFM,MISSENSE,NM_005382.2:p.Pro439Thr/c.1315C>A,Ccc/Acc,MODERATE,,0.902955,0.999,rs196864,1(T),"0.004,0.0(B,B)",-2.47(N),-0.9121(T),,chr8,24774683,24774683,C,A,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro63Thr/c.187C>A|540|NEFM|protein_coding|CODING|NM_001105541.1|3|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro439Thr/c.1315C>A|916|NEFM|protein_coding|CODING|NM_005382.2|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9928,0.9424,0.9254,0.88,0.76,0.94,,0.004954(N),1.000(P),"-1.63,-1.6,-1.55,-3.22(D,D,D,D)",0.0000(T),0.044,-3.044794,4.8,2.4,-1.681000,-0.002000,0.090000,0.059000,0.997000,0.841000,1.3273
synonymous_variant,DOCK5,SILENT,NM_024940.6:p.Val297Val/c.891G>A,gtG/gtA,LOW,COSM3982481(1),0.277955,0.244,rs907157,0(D),,,-0.9014(T),,chr8,25159885,25159885,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val297Val/c.891G>A|1870|DOCK5|protein_coding|CODING|NM_024940.6|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.3313,0.3646,0.498,0.35,0.11,0.47,,0.000001(D),0.000(P),2.21(T),0.0000(T),.,1.341314,5.55,4.67,0.650000,1.332000,1.503000,0.926000,1.000000,1.000000,10.5137
synonymous_variant,DOCK5,SILENT,NM_024940.6:p.Ser603Ser/c.1809C>T,tcC/tcT,LOW,,0.66893,0.7688,rs2666172,,,,,,chr8,25182969,25182969,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser603Ser/c.1809C>T|1870|DOCK5|protein_coding|CODING|NM_024940.6|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6411,0.6614,0.827,0.71,0.54,0.79,,,0.000(P),,,.,0.103003,5.6,2.78,0.655000,0.701000,0.582000,0.390000,0.997000,0.917000,2.4002
synonymous_variant,DOCK5,SILENT,NM_024940.6:p.Thr883Thr/c.2649A>G,acA/acG,LOW,,0.974641,1,rs2468902,,,,-1.0253(T),,chr8,25203022,25203022,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr883Thr/c.2649A>G|1870|DOCK5|protein_coding|CODING|NM_024940.6|26|1),downstream_gene_variant(MODIFIER||32|||MIR6876||NON_CODING|NR_106936.1||1)","NHEK:CTCF,H1ESC:H3K36me3,CD4:DNase1,HMEC:H3K36me3,IMR90:DNase1,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HUVEC:Cmyc,HepG2:FOSL2,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1",,,,1,0.9914,1,0.97,0.92,1.00,,,0.000(P),,0.0000(T),.,0.842121,6.17,-8.81,-1.551000,-1.505000,-1.760000,0.892000,0.155000,0.000000,3.0482
missense_variant,DOCK5,MISSENSE,NM_024940.6:p.Gln1023Arg/c.3068A>G,cAg/cGg,MODERATE,COSM150472(2),0.245607,0.3562,rs2271111,0.75(T),"0.005,0.005(B,B)",1.295(L),-0.9485(T),,chr8,25222165,25222165,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1023Arg/c.3068A>G|1870|DOCK5|protein_coding|CODING|NM_024940.6|30|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1984,0.304,0.3698,0.26,0.11,0.34,,0.000001(D),0.000(P),1.88(T),0.0000(T),0.161,1.287145,5.62,4.34,0.528000,2.142000,4.300000,0.962000,1.000000,1.000000,7.572
synonymous_variant,DOCK5,SILENT,NM_024940.6:p.Asp1206Asp/c.3618C>T,gaC/gaT,LOW,COSM150473(1),0.438099,0.3968,rs2271108,,,,,,chr8,25230168,25230168,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1206Asp/c.3618C>T|1870|DOCK5|protein_coding|CODING|NM_024940.6|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4663,0.464,0.508,0.45,0.38,0.49,,,,,,,,,,,,,,,,
missense_variant,DOCK5,MISSENSE,NM_024940.6:p.Lys1285Arg/c.3854A>G,aAg/aGg,MODERATE,,0.997005,1,rs2659585,0.91(T),0.0(B),-1.625(N),-0.9662(T),,chr8,25234858,25234858,A,G,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys1285Arg/c.3854A>G|1870|DOCK5|protein_coding|CODING|NM_024940.6|38|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,0.000238(N),0.000(P),4.7(T),0.0000(T),0.019,1.073450,5.47,5.47,-0.119000,1.334000,4.781000,0.986000,1.000000,1.000000,14.5067
synonymous_variant,DOCK5,SILENT,NM_024940.6:p.Pro1804Pro/c.5412A>G,ccA/ccG,LOW,COSM3763274(3),0.519369,0.6379,rs2709618,,,,,,chr8,25267622,25267622,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1804Pro/c.5412A>G|1870|DOCK5|protein_coding|CODING|NM_024940.6|51|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5787,0.621,0.6292,0.52,0.31,0.63,,,,,,,,,,,,,,,,
missense_variant,GNRH1,MISSENSE,NM_000825.3:p.Trp20Ser/c.59G>C,tGg/tCg,MODERATE,COSM3982483(2),0.224241,0.5476,rs6185,0.08(T),0.002(B),,-0.9204(T),,chr8,25280800,25280800,C,G,hom,"missense_variant(MODERATE|MISSENSE|tGg/tCg|p.Trp16Ser/c.47G>C|92|GNRH1|protein_coding|CODING|NM_001083111.1|2|1),missense_variant(MODERATE|MISSENSE|tGg/tCg|p.Trp20Ser/c.59G>C|96|GNRH1|protein_coding|CODING|NM_000825.3|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.1227,0.1931,0.2425,0.20,0.09,0.25,,0.096387(N),1.000(P),"1.03,1.03(T,T)",0.0000(T),0.146,0.369183,5.29,2.9,-1.092000,0.457000,3.083000,0.000000,0.000000,0.022000,4.5292
synonymous_variant,CDCA2,SILENT,NM_152562.2:p.Asn158Asn/c.474T>C,aaT/aaC,LOW,,0.955471,1,rs10108752,,,,,,chr8,25323777,25323777,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn158Asn/c.474T>C|1023|CDCA2|protein_coding|CODING|NM_152562.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9957,0.999,0.95,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,PNMA2,MISSENSE,NM_007257.5:p.Glu186Lys/c.556G>A,Gaa/Aaa,MODERATE,,0.161741,0.2133,rs2233701,0.06(T),0.239(B),1.665(L),-0.9578(T),,chr8,26365716,26365716,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu186Lys/c.556G>A|364|PNMA2|protein_coding|CODING|NM_007257.5|3|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2209,0.1758,0.1014,0.11,0.11,0.11,,,0.534(P),2.86(T),0.0000(T),0.185,3.428276,4.22,4.22,0.655000,2.640000,2.873000,0.448000,1.000000,1.000000,12.388
synonymous_variant,DPYSL2,SILENT,NM_001197293.2:p.Ser247Ser/c.741T>C,agT/agC,LOW,,0.936701,0.9266,rs327222,,,,,,chr8,26481771,26481771,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser247Ser/c.741T>C|677|DPYSL2|protein_coding|CODING|NM_001197293.2|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser106Ser/c.318T>C|536|DPYSL2|protein_coding|CODING|NM_001244604.1|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser142Ser/c.426T>C|572|DPYSL2|protein_coding|CODING|NM_001386.5|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9714,0.9265,0.994,0.96,0.90,0.99,,,,,,,,,,,,,,,,
synonymous_variant,DPYSL2,SILENT,NM_001197293.2:p.Ile369Ile/c.1107C>T,atC/atT,LOW,COSM3763281(1),0.0131789,0.001,rs78121726,,,,,,chr8,26492397,26492397,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile369Ile/c.1107C>T|677|DPYSL2|protein_coding|CODING|NM_001197293.2|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile228Ile/c.684C>T|536|DPYSL2|protein_coding|CODING|NM_001244604.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile264Ile/c.792C>T|572|DPYSL2|protein_coding|CODING|NM_001386.5|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.013,0.0408,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,DPYSL2,SILENT,NM_001197293.2:p.Pro607Pro/c.1821T>C,ccT/ccC,LOW,,0.592252,0.4018,rs708621,,,,,,chr8,26510792,26510792,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro607Pro/c.1821T>C|677|DPYSL2|protein_coding|CODING|NM_001197293.2|13|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro466Pro/c.1398T>C|536|DPYSL2|protein_coding|CODING|NM_001244604.1|13|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro502Pro/c.1506T>C|572|DPYSL2|protein_coding|CODING|NM_001386.5|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5409,0.4597,0.673,0.71,0.77,0.68,,,,,,,,,,,,,,,,
missense_variant,ADRA1A,MISSENSE,NM_033303.3:p.Cys347Arg/c.1039T>C,Tgc/Cgc,MODERATE,,0.648163,0.8929,rs1048101,0.93(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.155(N),-0.9779(T),,chr8,26628028,26628028,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys347Arg/c.1039T>C|466|ADRA1A|protein_coding|CODING|NM_000680.2|2|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys347Arg/c.1039T>C|429|ADRA1A|protein_coding|CODING|NM_033302.2|2|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys347Arg/c.1039T>C|475|ADRA1A|protein_coding|CODING|NM_033303.3|2|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys347Arg/c.1039T>C|455|ADRA1A|protein_coding|CODING|NM_033304.2|2|1)","GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5429,0.4928,0.4334,0.55,0.74,0.45,,0.000059(N),0.000(P),"1.4,1.4,1.4,1.4,1.4,1.4(T,T,T,T,T,T)",0.0000(T),0.048,0.451582,5.83,5.83,-0.119000,1.498000,2.915000,0.875000,0.995000,0.631000,14.8702
synonymous_variant,PTK2B,SILENT,NM_004103.4:p.Ser9Ser/c.27T>C,agT/agC,LOW,COSM3982486(1),0.318091,0.2748,rs1045510,,,,,,chr8,27255128,27255128,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser9Ser/c.27T>C|1009|PTK2B|protein_coding|CODING|NM_004103.4|3|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser9Ser/c.27T>C|1009|PTK2B|protein_coding|CODING|NM_173174.2|7|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser9Ser/c.27T>C|967|PTK2B|protein_coding|CODING|NM_173175.2|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser9Ser/c.27T>C|1009|PTK2B|protein_coding|CODING|NM_173176.2|2|1)","GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.3517,0.3818,0.4324,0.37,0.23,0.45,,,,,,,,,,,,,,,,
synonymous_variant,PTK2B,SILENT,NM_004103.4:p.Thr15Thr/c.45G>A,acG/acA,LOW,COSM3982488(1),0.311502,0.2748,rs1045511,,,,,,chr8,27255146,27255146,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr15Thr/c.45G>A|1009|PTK2B|protein_coding|CODING|NM_004103.4|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr15Thr/c.45G>A|1009|PTK2B|protein_coding|CODING|NM_173174.2|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr15Thr/c.45G>A|967|PTK2B|protein_coding|CODING|NM_173175.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr15Thr/c.45G>A|1009|PTK2B|protein_coding|CODING|NM_173176.2|2|1)","GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.3517,0.3818,0.4304,0.37,0.21,0.45,,,,,,,,,,,,,,,,
synonymous_variant,PTK2B,SILENT,NM_004103.4:p.Lys54Lys/c.162A>G,aaA/aaG,LOW,COSM150475(1),0.317692,0.2748,rs1045512,,,,,,chr8,27255263,27255263,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys54Lys/c.162A>G|1009|PTK2B|protein_coding|CODING|NM_004103.4|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys54Lys/c.162A>G|1009|PTK2B|protein_coding|CODING|NM_173174.2|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys54Lys/c.162A>G|967|PTK2B|protein_coding|CODING|NM_173175.2|2|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys54Lys/c.162A>G|1009|PTK2B|protein_coding|CODING|NM_173176.2|2|1)","GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.3517,0.3818,0.4304,0.37,0.23,0.45,,,,,,,,,,,,,,,,
synonymous_variant,PTK2B,SILENT,NM_004103.4:p.Thr110Thr/c.330G>A,acG/acA,LOW,COSM3763282(2),0.386581,0.2718,rs1030526,,,,,,chr8,27277537,27277537,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr110Thr/c.330G>A|1009|PTK2B|protein_coding|CODING|NM_004103.4|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr110Thr/c.330G>A|1009|PTK2B|protein_coding|CODING|NM_173174.2|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr110Thr/c.330G>A|967|PTK2B|protein_coding|CODING|NM_173175.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr110Thr/c.330G>A|1009|PTK2B|protein_coding|CODING|NM_173176.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5143,0.2738,0.4076,0.41,0.42,0.41,,,,,,,,,,,,,,,,
missense_variant,PTK2B,MISSENSE,NM_004103.4:p.Lys838Thr/c.2513A>C,aAg/aCg,MODERATE,,0.364617,0.3601,rs386610838,0.27(T),"0.003,0.003(B,B)",0.145(N),-0.9547(T),,chr8,27308585,27308585,A,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys838Thr/c.2513A>C|1009|PTK2B|protein_coding|CODING|NM_004103.4|27|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys838Thr/c.2513A>C|1009|PTK2B|protein_coding|CODING|NM_173174.2|31|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys796Thr/c.2387A>C|967|PTK2B|protein_coding|CODING|NM_173175.2|25|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys838Thr/c.2513A>C|1009|PTK2B|protein_coding|CODING|NM_173176.2|26|1)","GM12878:H3K36me3,HMEC:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.409,0.4092,0.4573,0.40,0.28,0.46,,0.015930(N),0.333(P),"-0.83,-0.8,-0.83,-0.83,-0.8,-0.8,-0.84(T,T,T,T,T,T,T)",0.0000(T),0.219,0.860694,5.42,4.26,-0.256000,0.890000,3.193000,0.632000,0.993000,1.000000,8.0735
synonymous_variant,PTK2B,SILENT,NM_004103.4:p.Thr876Thr/c.2628T>C,acT/acC,LOW,,0.797724,0.5565,rs1879184,,,,,,chr8,27311703,27311703,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr876Thr/c.2628T>C|1009|PTK2B|protein_coding|CODING|NM_004103.4|30|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr876Thr/c.2628T>C|1009|PTK2B|protein_coding|CODING|NM_173174.2|34|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr834Thr/c.2502T>C|967|PTK2B|protein_coding|CODING|NM_173175.2|28|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr876Thr/c.2628T>C|1009|PTK2B|protein_coding|CODING|NM_173176.2|29|1)","GM12878:H3K36me3,K562:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8395,0.817,0.8499,0.87,0.89,0.87,,,,,,,,,,,,,,,,
synonymous_variant,PTK2B,SILENT,NM_004103.4:p.Ala960Ala/c.2880A>G,gcA/gcG,LOW,,0.795128,0.5556,rs1879182,,,,,,chr8,27315876,27315876,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala960Ala/c.2880A>G|1009|PTK2B|protein_coding|CODING|NM_004103.4|32|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala960Ala/c.2880A>G|1009|PTK2B|protein_coding|CODING|NM_173174.2|36|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala918Ala/c.2754A>G|967|PTK2B|protein_coding|CODING|NM_173175.2|30|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala960Ala/c.2880A>G|1009|PTK2B|protein_coding|CODING|NM_173176.2|31|1),downstream_gene_variant(MODIFIER||1402||529|CHRNA2|protein_coding|CODING|NM_000742.3||1),downstream_gene_variant(MODIFIER||1402||514|CHRNA2|protein_coding|CODING|NM_001282455.1||1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8395,0.8156,0.8499,0.87,0.88,0.87,,,,,,,,,,,,,,,,
synonymous_variant,PTK2B,SILENT,NM_004103.4:p.Leu968Leu/c.2904A>G,ctA/ctG,LOW,,0.791534,0.5556,rs1879181,,,,,,chr8,27315900,27315900,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu968Leu/c.2904A>G|1009|PTK2B|protein_coding|CODING|NM_004103.4|32|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu968Leu/c.2904A>G|1009|PTK2B|protein_coding|CODING|NM_173174.2|36|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu926Leu/c.2778A>G|967|PTK2B|protein_coding|CODING|NM_173175.2|30|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu968Leu/c.2904A>G|1009|PTK2B|protein_coding|CODING|NM_173176.2|31|1),downstream_gene_variant(MODIFIER||1378||529|CHRNA2|protein_coding|CODING|NM_000742.3||1),downstream_gene_variant(MODIFIER||1378||514|CHRNA2|protein_coding|CODING|NM_001282455.1||1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8395,0.8156,0.8499,0.87,0.87,0.87,,,,,,,,,,,,,,,,
missense_variant,CHRNA2,MISSENSE,NM_000742.3:p.Thr125Ala/c.373A>G,Act/Gct,MODERATE,,0.610224,0.6498,rs386619702,0.77(T),0.0(B),-1.125(N),-0.9569(T),,chr8,27324822,27324822,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr125Ala/c.373A>G|529|CHRNA2|protein_coding|CODING|NM_000742.3|5|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr110Ala/c.328A>G|514|CHRNA2|protein_coding|CODING|NM_001282455.1|5|1)","HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116712.2|RCV000124271.1,,0.4121,0.5562,0.5119,0.58,0.76,0.49,,0.001824(N),1.000(P),"-1.17,-1.17,-1.17(T,T,T)",0.0000(T),0.062,-1.604403,5.52,3.46,-0.119000,1.342000,0.603000,0.013000,0.076000,0.019000,5.715
synonymous_variant,EPHX2,SILENT,NM_001979.5:p.Gly197Gly/c.591A>C,ggA/ggC,LOW,,0.0601038,0,rs11996801,,,,,,chr8,27364442,27364442,A,C,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly144Gly/c.432A>C|502|EPHX2|protein_coding|CODING|NM_001256482.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly131Gly/c.393A>C|489|EPHX2|protein_coding|CODING|NM_001256483.1|4|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly144Gly/c.432A>C|502|EPHX2|protein_coding|CODING|NM_001256484.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly197Gly/c.591A>C|555|EPHX2|protein_coding|CODING|NM_001979.5|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0101,0.001,0.05,0.16,0.00,,,,,,,,,,,,,,,,
synonymous_variant,EPHX2,SILENT,NM_001979.5:p.Pro531Pro/c.1593A>C,ccA/ccC,LOW,,0.430911,0.4147,rs1126452,,,,,,chr8,27401964,27401964,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro478Pro/c.1434A>C|502|EPHX2|protein_coding|CODING|NM_001256482.1|19|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro465Pro/c.1395A>C|489|EPHX2|protein_coding|CODING|NM_001256483.1|18|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro478Pro/c.1434A>C|502|EPHX2|protein_coding|CODING|NM_001256484.1|19|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro531Pro/c.1593A>C|555|EPHX2|protein_coding|CODING|NM_001979.5|19|1)","K562:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.32,0.255,0.2366,0.40,0.65,0.27,,,,,,,,,,,,,,,,
synonymous_variant,CLU,SILENT,NM_001831.3:p.His263His/c.789T>C,caT/caC,LOW,COSM3763291(1),0.664537,0.7887,rs7982,,,,,,chr8,27462481,27462481,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His263His/c.789T>C|449|CLU|protein_coding|CODING|NM_001831.3|5|1),non_coding_exon_variant(MODIFIER|||n.1110T>C||CLU||CODING|NR_038335.1|5|1),non_coding_exon_variant(MODIFIER|||n.969T>C||CLU||CODING|NR_045494.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7157,0.6556,0.6143,0.60,0.59,0.60,,,1.000(P),,,.,0.109767,3.68,-0.917,-0.213000,-0.708000,-0.719000,0.190000,0.003000,0.001000,4.8125
synonymous_variant,PBK,SILENT,NM_001278945.1:p.Ala285Ala/c.855G>C,gcG/gcC,LOW,,0.419329,0.3829,rs2294092,,,,,,chr8,27667969,27667969,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala285Ala/c.855G>C|333|PBK|protein_coding|CODING|NM_001278945.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala274Ala/c.822G>C|322|PBK|protein_coding|CODING|NM_018492.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4039,0.4179,0.4592,0.44,0.42,0.44,,,,,,,,,,,,,,,,
synonymous_variant,SCARA5,SILENT,NM_173833.5:p.Ile469Ile/c.1407C>T,atC/atT,LOW,COSM3763292(1),0.152157,0.245,rs61737291,,,,,,chr8,27729532,27729532,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile469Ile/c.1407C>T|495|SCARA5|protein_coding|CODING|NM_173833.5|9|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,NHEK:H3K4me1,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27ac,IMR90:H3K27me3",,,,0.1892,0.0908,0.1243,0.12,0.11,0.12,,,,,,,,,,,,,,,,
synonymous_variant,SCARA5,SILENT,NM_173833.5:p.Arg413Arg/c.1239T>C,cgT/cgC,LOW,COSM3763293(1),0.839257,0.7887,rs4732610,,,,,,chr8,27737198,27737198,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg413Arg/c.1239T>C|495|SCARA5|protein_coding|CODING|NM_173833.5|8|1),"K562:Max,HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,K562:CTCFL,HMEC:H3K27me3,K562:E2F6,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.7883,0.8963,0.8429,0.87,0.88,0.86,,,,,,,,,,,,,,,,
missense_variant,SCARA5,MISSENSE,NM_173833.5:p.Asp316His/c.946G>C,Gat/Cat,MODERATE,COSM3763294(1),0.183307,0.376,rs17058207,0.61(T),"0.001,0.003,0.003,0.002(B,B,B,B)",0.82(L),-1.0920(T),,chr8,27767231,27767231,C,G,het,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp316His/c.946G>C|495|SCARA5|protein_coding|CODING|NM_173833.5|5|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1851,0.0706,0.0924,0.10,0.14,0.08,,0.419834(N),1.000(P),"-3.18,-3.18,-3.18,-3.18,-3.18(D,D,D,D,D)",0.0000(T),0.134,0.571454,4.99,-1.85,-0.291000,-0.045000,-0.072000,0.949000,0.178000,0.039000,5.1821
synonymous_variant,SCARA5,SILENT,NM_173833.5:p.Leu153Leu/c.459G>A,ctG/ctA,LOW,COSM454388(8),0.570487,0.5843,rs10103504,,,,,,chr8,27779545,27779545,C,T,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu153Leu/c.459G>A|495|SCARA5|protein_coding|CODING|NM_173833.5|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.7147,0.696,0.6024,0.57,0.45,0.64,,,,,,,,,,,,,,,,
synonymous_variant,NUGGC,SILENT,NM_001010906.1:p.Thr678Thr/c.2034G>A,acG/acA,LOW,COSM3982496(1),0.32508,0.1181,rs9314357,,,,,,chr8,27886903,27886903,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr678Thr/c.2034G>A|796|NUGGC|protein_coding|CODING|NM_001010906.1|17|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.32,0.2939,0.4274,0.43,0.42,0.44,,,,,,,,,,,,,,,,
missense_variant,NUGGC,MISSENSE,NM_001010906.1:p.Ser474Asn/c.1421G>A,aGt/aAt,MODERATE,COSM3763297(1),0.378195,0.4375,rs13279787,0.39(T),0.001(B),0.345(N),-0.9006(T),,chr8,27903069,27903069,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser474Asn/c.1421G>A|796|NUGGC|protein_coding|CODING|NM_001010906.1|12|1),"HUVEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3078,0.4092,0.2972,0.31,0.38,0.28,,0.005190(N),0.990(P),"1.49,1.49(T,T)",0.0000(T),0.002,0.615758,5.31,2.29,0.650000,1.181000,0.340000,0.322000,0.643000,0.946000,6.5726
missense_variant,NUGGC,MISSENSE,NM_001010906.1:p.Gln328Arg/c.983A>G,cAa/cGa,MODERATE,,0.965655,1,rs7817227,0.46(T),0.0(B),-1.155(N),-0.9555(T),,chr8,27918057,27918057,T,C,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln328Arg/c.983A>G|796|NUGGC|protein_coding|CODING|NM_001010906.1|8|1),"GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,1,0.9914,1,0.96,0.89,1.00,,0.004975(N),1.000(P),"-3.85,-3.85(D,D)",0.0000(T),0.014,-1.075053,5.67,1.29,-0.927000,0.072000,0.513000,0.017000,0.057000,0.200000,7.386
missense_variant,NUGGC,MISSENSE,NM_001010906.1:p.Ser180Gly/c.538A>G,Agc/Ggc,MODERATE,COSM3763300(1),0.584465,0.6101,rs4732620,0.43(T),0.0(B),-0.855(N),-0.9199(T),,chr8,27925204,27925204,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser180Gly/c.538A>G|796|NUGGC|protein_coding|CODING|NM_001010906.1|6|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.5777,0.6095,0.5159,0.56,0.60,0.54,,0.315964(N),1.000(P),"-4.2,-4.2(D,D)",0.0000(T),0.022,-0.954775,6.1,0.743,-0.176000,-0.083000,-0.491000,0.259000,0.000000,0.000000,1.2115
missense_variant,NUGGC,MISSENSE,NM_001010906.1:p.Arg23Pro/c.68G>C,cGa/cCa,MODERATE,,0.963658,1,rs6998705,1(T),0.0(B),-0.895(N),-0.9368(T),,chr8,27927849,27927849,C,G,hom,missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg23Pro/c.68G>C|796|NUGGC|protein_coding|CODING|NM_001010906.1|3|1),"HUVEC:H3K27me3,HepG2:H3K27ac,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,1,0.9957,1,0.97,0.89,1.00,,0.017743(N),1.000(P),"2.53,2.54,0.96(T,T,T)",0.0000(T),0.378,-1.083115,5.65,5.65,-0.120000,1.399000,2.141000,0.031000,0.868000,0.985000,12.8378
missense_variant,FBXO16,MISSENSE,NM_172366.3:p.Thr255Asn/c.764C>A,aCc/aAc,MODERATE,,0.0926518,0,rs7016831,0.25(T),"0.006,0.006(B,B)",1.245(L),-0.9652(T),,chr8,28304767,28304767,G,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr243Asn/c.728C>A|280|FBXO16|protein_coding|CODING|NM_001258211.1|6|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr255Asn/c.764C>A|292|FBXO16|protein_coding|CODING|NM_172366.3|7|1)",,,,,0.0174,0.0274,0.0358,0.10,0.21,0.04,,0.253071(N),0.000(P),"2.49,2.47,2.49(T,T,T)",0.0000(T),0.064,1.040345,5.01,2.07,0.591000,0.183000,0.753000,0.561000,0.994000,0.993000,4.1093
missense_variant,FBXO16,MISSENSE,NM_172366.3:p.Met254Ile/c.762G>A,atG/atA,MODERATE,COSM3763308(1),0.474641,0.5506,rs1390963,0.38(T),"0.005,0.005(B,B)",1.87(L),-0.9370(T),,chr8,28304769,28304769,C,T,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met242Ile/c.726G>A|280|FBXO16|protein_coding|CODING|NM_001258211.1|6|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met254Ile/c.762G>A|292|FBXO16|protein_coding|CODING|NM_172366.3|7|1)",,,,,0.3845,0.4207,0.3618,0.43,0.54,0.37,,0.754871(U),0.000(P),"2.55,2.55,2.55(T,T,T)",0.0000(T),0.118,1.927336,5.01,5.01,0.591000,2.489000,0.294000,0.535000,1.000000,0.973000,14.1747
synonymous_variant,FZD3,SILENT,NM_017412.3:p.Leu145Leu/c.435A>G,ttA/ttG,LOW,COSM3763309(1),0.542332,0.5675,rs2241802,,,,,,chr8,28384712,28384712,A,G,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu145Leu/c.435A>G|666|FZD3|protein_coding|CODING|NM_017412.3|5|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu145Leu/c.435A>G|666|FZD3|protein_coding|CODING|NM_145866.1|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6227,0.598,0.5944,0.52,0.43,0.57,,,,,,,,,,,,,,,,
synonymous_variant,EXTL3,SILENT,NM_001440.3:p.Pro409Pro/c.1227G>A,ccG/ccA,LOW,COSM3982505(1),0.26238,0.3472,rs240951,,,,,,chr8,28574803,28574803,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro409Pro/c.1227G>A|919|EXTL3|protein_coding|CODING|NM_001440.3|3|1),intron_variant(MODIFIER|||n.188-13937G>A||EXTL3||CODING|NR_073468.1|1|1),intron_variant(MODIFIER|||n.763+1220G>A||EXTL3||CODING|NR_073469.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2485,0.2738,0.2813,0.24,0.21,0.26,,,,,,,,,,,,,,,,
synonymous_variant,KIF13B,SILENT,NM_015254.3:p.Leu614Leu/c.1840T>C,Tta/Cta,LOW,,0.732228,0.4117,rs6986672,,,,,,chr8,29005093,29005093,A,G,hom,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu614Leu/c.1840T>C|1826|KIF13B|protein_coding|CODING|NM_015254.3|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7618,0.8386,0.8698,0.85,0.82,0.87,,,,,,,,,,,,,,,,
synonymous_variant,SARAF,SILENT,NM_016127.5:p.Ala186Ala/c.558G>C,gcG/gcC,LOW,,0.978235,1,rs6468093,,,,-1.0000(T),,chr8,29927300,29927300,C,G,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala14Ala/c.42G>C|167|SARAF|protein_coding|CODING|NM_001284239.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala186Ala/c.558G>C|339|SARAF|protein_coding|CODING|NM_016127.5|3|1),intron_variant(MODIFIER|||n.42-7021G>C||MIR548O2||NON_CODING|NR_039605.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,1,0.9928,1,0.98,0.95,1.00,,,0.000(P),,0.0000(T),.,-0.021187,5.73,3.94,-0.195000,0.365000,0.647000,0.234000,0.952000,1.000000,2.873
synonymous_variant,SARAF,SILENT,NM_016127.5:p.Ile179Ile/c.537T>C,atT/atC,LOW,,0.973642,1,rs6468094,,,,-1.0913(T),,chr8,29927321,29927321,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile7Ile/c.21T>C|167|SARAF|protein_coding|CODING|NM_001284239.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile179Ile/c.537T>C|339|SARAF|protein_coding|CODING|NM_016127.5|3|1),intron_variant(MODIFIER|||n.42-7042T>C||MIR548O2||NON_CODING|NR_039605.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,1,0.9928,1,0.98,0.94,1.00,,,0.003(P),,0.0000(T),.,-0.868643,5.73,-9.27,-1.952000,-2.877000,-2.603000,0.005000,0.000000,0.000000,13.5744
synonymous_variant,MBOAT4,SILENT,NM_001100916.1:p.Ser401Ser/c.1203T>C,agT/agC,LOW,,0.730431,0.7659,rs7844812,,,,-1.0418(T),,chr8,29989564,29989564,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser401Ser/c.1203T>C|435|MBOAT4|protein_coding|CODING|NM_001100916.1|3|1),intron_variant(MODIFIER|||n.42-69285T>C||MIR548O2||NON_CODING|NR_039605.1|1|1),intron_variant(MODIFIER|||c.280-5224A>G|169|LEPROTL1|protein_coding|CODING|NM_001128208.1|3|1)","CD4:H3K18ac,CD4:H4K91ac,CD4:H2BK20ac,K562:H3K36me3,CD4:H2BK120ac,CD4:H2BK12ac",,,,0.8691,0.8732,0.8797,0.77,0.51,0.89,,,0.000(P),,0.0000(T),.,-0.353402,5.11,1.29,-0.996000,0.078000,1.074000,0.341000,0.690000,0.925000,8.6027
synonymous_variant,MBOAT4,SILENT,NM_001100916.1:p.Ala78Ala/c.234T>C,gcT/gcC,LOW,COSM4162952(1),0.852835,0.7589,rs4733141,,,,,,chr8,29996158,29996158,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala78Ala/c.234T>C|435|MBOAT4|protein_coding|CODING|NM_001100916.1|2|1),downstream_gene_variant(MODIFIER||936||169|LEPROTL1|protein_coding|CODING|NM_001128208.1||1),intron_variant(MODIFIER|||n.42-75879T>C||MIR548O2||NON_CODING|NR_039605.1|1|1)","CD4:H2AK5ac,CD4:H4K91ac",,,,0.9622,0.9251,0.9553,0.91,0.79,0.96,,,,,,,,,,,,,,,,
missense_variant,MBOAT4,MISSENSE,NM_001100916.1:p.Thr46Ala/c.136A>G,Act/Gct,MODERATE,COSM454429(1),0.851837,0.7589,rs7813902,,0.0(B),-0.695(N),-1.0467(T),,chr8,29996256,29996256,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr46Ala/c.136A>G|435|MBOAT4|protein_coding|CODING|NM_001100916.1|2|1),downstream_gene_variant(MODIFIER||1034||169|LEPROTL1|protein_coding|CODING|NM_001128208.1||1),intron_variant(MODIFIER|||n.42-75977A>G||MIR548O2||NON_CODING|NR_039605.1|1|1)",CD4:H4K91ac,,,,0.9468,0.9251,0.9553,0.91,0.79,0.96,,,0.993(P),2.02(T),0.0000(T),0.063,1.752230,5.44,0.376,-0.131000,-0.050000,-0.014000,0.938000,0.861000,0.003000,1.6743
missense_variant,UBXN8,MISSENSE,NM_005671.3:p.Thr51Ile/c.152C>T,aCt/aTt,MODERATE,,0.997604,1,rs2911690,,,,,,chr8,30608976,30608976,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr51Ile/c.152C>T|228|UBXN8|protein_coding|CODING|NM_001282199.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr51Ile/c.152C>T|269|UBXN8|protein_coding|CODING|NM_005671.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.89-48C>T|232|UBXN8|protein_coding|CODING|NM_001282189.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TEX15,SILENT,NM_031271.3:p.Thr2475Thr/c.7425G>A,acG/acA,LOW,,0.976238,1,rs2720593,,,,,,chr8,30695226,30695226,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr2475Thr/c.7425G>A|2789|TEX15|protein_coding|CODING|NM_031271.3|3|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,WRN,SILENT,NM_000553.4:p.Cys171Cys/c.513C>T,tgC/tgT,LOW,,0.6873,0.87,rs1800389,,,,,,chr8,30924557,30924557,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys171Cys/c.513C>T|1432|WRN|protein_coding|CODING|NM_000553.4|6|1),"HUVEC:H3K36me3,K562:H3K36me3",,RCV000118881.1,,0.6677,0.7939,0.7087,0.65,0.54,0.71,,,,,,,,,,,,,,,,
missense_variant,WRN,MISSENSE,NM_000553.4:p.Cys1367Arg/c.4099T>C,Tgt/Cgt,MODERATE,,0.192692,0.1042,rs1346044,0.1(T),0.289(B),2.14(M),-1.0672(T),,chr8,31024654,31024654,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1367Arg/c.4099T>C|1432|WRN|protein_coding|CODING|NM_000553.4|34|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,RCV000118880.3,,0.2832,0.1729,0.2664,0.23,0.17,0.26,,0.364736(N),0.055(P),0.93(T),0.0000(T),0.107,0.766747,4.86,2.45,0.533000,0.406000,0.579000,0.295000,0.090000,0.589000,5.6058
missense_variant,NRG1,MISSENSE,NM_013956.3:p.Arg38Gln/c.113G>A,cGa/cAa,MODERATE,COSM3763323(1),0.385184,0.7589,rs386589568,0.08(T),"0.081,0.245,0.149,0.188,0.019,0.117,0.048,0.117,0.071,0.022,0.065,0.097(B,B,B,B,B,B,B,B,B,B,B,B)",0.895(L),-1.0144(T),,chr8,32453358,32453358,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|194|NRG1|protein_coding|CODING|NM_001160002.1|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|459|NRG1|protein_coding|CODING|NM_001160004.1|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|207|NRG1|protein_coding|CODING|NM_001160005.1|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|177|NRG1|protein_coding|CODING|NM_001160007.1|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|420|NRG1|protein_coding|CODING|NM_001160008.1|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|211|NRG1|protein_coding|CODING|NM_004495.3|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|645|NRG1|protein_coding|CODING|NM_013956.3|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|637|NRG1|protein_coding|CODING|NM_013957.3|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|241|NRG1|protein_coding|CODING|NM_013958.3|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|462|NRG1|protein_coding|CODING|NM_013960.3|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg253Gln/c.758G>A|422|NRG1|protein_coding|CODING|NM_013962.2|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg38Gln/c.113G>A|640|NRG1|protein_coding|CODING|NM_013964.3|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro5Pro/c.15G>A|595|NRG1|protein_coding|CODING|NM_001159995.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro5Pro/c.15G>A|612|NRG1|protein_coding|CODING|NM_001159999.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro5Pro/c.15G>A|578|NRG1|protein_coding|CODING|NM_001160001.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4468,0.3746,0.3767,0.31,0.13,0.40,,0.020157(N),0.000(P),"1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02,1.02(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.326,3.450326,5.65,5.65,0.563000,2.826000,3.343000,0.986000,0.998000,1.000000,9.1012
missense_variant,MAK16,MISSENSE,NM_032509.3:p.Gln277Arg/c.830A>G,cAg/cGg,MODERATE,,0.553315,0.4851,rs386602933,1(T),0.0(B),-1.3(N),-1.0079(T),,chr8,33356074,33356074,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln277Arg/c.830A>G|300|MAK16|protein_coding|CODING|NM_032509.3|10|1),3_prime_UTR_variant(MODIFIER||617|c.*617T>C|508|TTI2|protein_coding|CODING|NM_001102401.2|8|1),3_prime_UTR_variant(MODIFIER||617|c.*617T>C|508|TTI2|protein_coding|CODING|NM_001265581.1|8|1),3_prime_UTR_variant(MODIFIER||617|c.*617T>C|508|TTI2|protein_coding|CODING|NM_025115.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4202,0.4914,0.6322,0.64,0.68,0.62,,0.288291(N),0.987(P),1.04(T),0.0000(T),0.025,-1.880408,5.5,-7.74,-2.367000,-1.724000,0.068000,0.024000,0.026000,0.012000,11.6164
missense_variant,TTI2,MISSENSE,NM_001102401.2:p.Glu63Gly/c.188A>G,gAa/gGa,MODERATE,,0.506789,0.5556,rs2304748,0.07(T),"0.186,0.115,0.115(B,B,B)",2.35(M),-0.9224(T),,chr8,33369944,33369944,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu63Gly/c.188A>G|508|TTI2|protein_coding|CODING|NM_001102401.2|2|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu63Gly/c.188A>G|508|TTI2|protein_coding|CODING|NM_001265581.1|2|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu63Gly/c.188A>G|508|TTI2|protein_coding|CODING|NM_025115.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4458,0.4654,0.6252,0.56,0.46,0.62,,0.011110(N),1.000(P),"0.26,0.26,0.24,0.6(T,T,T,T)",0.0000(T),0.217,2.425243,4.53,3.34,0.533000,0.735000,0.768000,0.011000,0.010000,0.126000,8.882
synonymous_variant,TTI2,SILENT,NM_001102401.2:p.Asn46Asn/c.138T>C,aaT/aaC,LOW,,0.578874,0.5565,rs3098657,,,,,,chr8,33369994,33369994,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn46Asn/c.138T>C|508|TTI2|protein_coding|CODING|NM_001102401.2|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn46Asn/c.138T>C|508|TTI2|protein_coding|CODING|NM_001265581.1|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn46Asn/c.138T>C|508|TTI2|protein_coding|CODING|NM_025115.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4591,0.4957,0.6551,0.66,0.67,0.65,,,,,,,,,,,,,,,,
synonymous_variant,RNF122,SILENT,NM_024787.3:p.Phe42Phe/c.126C>T,ttC/ttT,LOW,COSM3982527(2),0.496805,0.381,rs3735950,,,,,,chr8,33416189,33416189,G,A,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe42Phe/c.126C>T|155|RNF122|protein_coding|CODING|NM_024787.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4223,0.4496,0.5606,0.57,0.60,0.56,,,,,,,,,,,,,,,,
synonymous_variant,RNF122,SILENT,NM_024787.3:p.Gln31Gln/c.93G>A,caG/caA,LOW,COSM3982528(1),0.610423,0.499,rs3735951,,,,,,chr8,33416222,33416222,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln31Gln/c.93G>A|155|RNF122|protein_coding|CODING|NM_024787.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4969,0.5029,0.5855,0.67,0.81,0.59,,,,,,,,,,,,,,,,
missense_variant,KCNU1,MISSENSE,NM_001031836.2:p.Trp768Arg/c.2302T>C,Tgg/Cgg,MODERATE,COSM3763330(1),0.379792,0.376,rs28608091,0.89(T),0.0(B),-0.92(N),-0.9188(T),,chr8,36767024,36767024,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp768Arg/c.2302T>C|1149|KCNU1|protein_coding|CODING|NM_001031836.2|21|1),,,,,0.3609,0.4827,0.4006,0.38,0.34,0.40,,0.070624(N),0.000(P),1.06(T),0.0000(T),0.097,-0.730645,5.8,2.64,-0.119000,0.356000,1.370000,0.017000,0.979000,0.670000,8.6358
missense_variant,GPR124,MISSENSE,NM_032777.9:p.Gly241Arg/c.721G>A,Ggg/Agg,MODERATE,,,,,0.6(T),"0.511,0.433(P,B)",1.79(L),-0.8048(T),,chr8,37688230,37688230,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly241Arg/c.721G>A|1338|GPR124|protein_coding|CODING|NM_032777.9|7|1),splice_region_variant(LOW|||c.721G>A|1338|GPR124|protein_coding|CODING|NM_032777.9|7|1)","HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.000002(D),1.000(D),"0.3,0.37(T,T)",0.2229(T),0.735,4.069967,5.19,5.19,0.655000,2.429000,9.689000,0.994000,1.000000,1.000000,18.7204
synonymous_variant,ASH2L,SILENT,NM_004674.4:p.Lys418Lys/c.1254A>G,aaA/aaG,LOW,,0.848043,0.752,rs2843740,,,,-0.9917(T),,chr8,37985897,37985897,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys324Lys/c.972A>G|534|ASH2L|protein_coding|CODING|NM_001105214.2|11|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys324Lys/c.972A>G|501|ASH2L|protein_coding|CODING|NM_001261832.1|11|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys279Lys/c.837A>G|489|ASH2L|protein_coding|CODING|NM_001282272.1|10|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys418Lys/c.1254A>G|628|ASH2L|protein_coding|CODING|NM_004674.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8824,0.853,0.9732,0.92,0.78,0.98,,,0.000(P),,0.0000(T),.,1.449205,5.79,-2.16,0.454000,-0.356000,-0.687000,0.907000,0.991000,0.009000,12.4497
synonymous_variant,STAR,SILENT,NM_000349.2:p.Leu63Leu/c.189A>G,ctA/ctG,LOW,COSM4162974(1),0.995407,1,rs2229620,,,,,,chr8,38005835,38005835,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu63Leu/c.189A>G|285|STAR|protein_coding|CODING|NM_000349.2|3|1),"HUVEC:H3K27me3,K562:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,0.000(P),,,.,1.284677,5.52,2.71,-0.215000,0.100000,.,0.941000,0.976000,.,3.0083
missense_variant,DDHD2,MISSENSE,NM_001164232.1:p.Thr186Met/c.557C>T,aCg/aTg,MODERATE,COSM3763334(1),0.171725,0.3194,rs2306899,0.08(T),"0.302,0.009(B,B)",1.59(L),-0.9776(T),,chr8,38095662,38095662,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr186Met/c.557C>T|711|DDHD2|protein_coding|CODING|NM_001164232.1|5|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr186Met/c.557C>T|711|DDHD2|protein_coding|CODING|NM_015214.2|5|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr186Met/c.557C>T|227|DDHD2|protein_coding|CODING|NM_001164234.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000116873.2,,0.0879,0.2392,0.2545,0.17,0.07,0.23,,0.016542(N),1.000(P),"0.79,1.43,0.79(T,T,T)",0.0000(T),0.214,1.738693,5.91,5.03,0.558000,1.510000,1.292000,0.069000,0.236000,0.001000,9.7953
missense_variant,DDHD2,MISSENSE,NM_001164232.1:p.Asp376Gly/c.1127A>G,gAt/gGt,MODERATE,,0.00119808,0,rs148664622,0.37(T),"0.0,0.0(B,B)",-1.1(N),-1.0015(T),,chr8,38105232,38105232,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp376Gly/c.1127A>G|711|DDHD2|protein_coding|CODING|NM_001164232.1|10|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp376Gly/c.1127A>G|711|DDHD2|protein_coding|CODING|NM_015214.2|10|1),splice_region_variant(LOW|||c.1127A>G|711|DDHD2|protein_coding|CODING|NM_001164232.1|10|1),splice_region_variant(LOW|||c.1127A>G|711|DDHD2|protein_coding|CODING|NM_015214.2|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.005,0.00,0.00,0.00,,0.968850(N),0.999(D),"1.45,1.45(T,T)",0.0129(T),0.113,3.007460,5.51,-6.11,0.528000,-0.682000,0.121000,0.992000,0.049000,0.107000,2.4664
synonymous_variant,TACC1,SILENT,NM_006283.2:p.Glu390Glu/c.1170A>G,gaA/gaG,LOW,COSM3982534(2),0.250998,0.2688,rs2013586,,,,-0.9845(T),,chr8,38677932,38677932,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu195Glu/c.585A>G|610|TACC1|protein_coding|CODING|NM_001146216.2|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu390Glu/c.1170A>G|805|TACC1|protein_coding|CODING|NM_006283.2|3|1),intron_variant(MODIFIER|||c.162-4894A>G|395|TACC1|protein_coding|CODING|NM_001122824.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.273,0.2594,0.3887,0.33,0.16,0.41,,,0.999(P),,0.0000(T),.,0.326458,5.4,-7.82,-0.890000,-1.870000,-1.316000,0.022000,0.000000,0.000000,5.4787
synonymous_variant,TACC1,SILENT,NM_006283.2:p.Pro540Pro/c.1620T>C,ccT/ccC,LOW,COSM4162994(1),0.330871,0.2698,rs2037204,,,,-0.8846(T),,chr8,38684853,38684853,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro130Pro/c.390T>C|395|TACC1|protein_coding|CODING|NM_001122824.1|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro345Pro/c.1035T>C|610|TACC1|protein_coding|CODING|NM_001146216.2|5|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro540Pro/c.1620T>C|805|TACC1|protein_coding|CODING|NM_006283.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.273,0.2839,0.3897,0.41,0.38,0.42,,,0.000(P),,0.0000(T),.,0.196794,5.46,-10.9,-2.575000,-3.618000,-4.510000,0.696000,0.030000,0.000000,21.8296
missense_variant,ADAM32,MISSENSE,NM_145004.5:p.Thr467Ser/c.1400C>G,aCc/aGc,MODERATE,,0.958267,1,rs7845771,0.83(T),"0.001,0.0,0.01(B,B,B)",-0.515(N),-0.9222(T),,chr8,39080632,39080632,C,G,hom,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr467Ser/c.1400C>G|787|ADAM32|protein_coding|CODING|NM_145004.5|14|1),,,,,1,0.9928,0.999,0.96,0.88,1.00,,0.616536(N),1.000(P),"2.84,2.84,2.84(T,T,T)",0.0000(T),0.049,-1.070542,5.55,-3.45,-0.805000,-0.820000,-0.770000,0.015000,0.005000,0.001000,17.7417
synonymous_variant,ADAM18,SILENT,NM_014237.2:p.Thr291Thr/c.873T>C,acT/acC,LOW,COSM3982539(1),0.588458,0.251,rs12708194,,,,,,chr8,39496029,39496029,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr291Thr/c.873T>C|739|ADAM18|protein_coding|CODING|NM_014237.2|10|1),,,,,0.6728,0.5994,0.6431,0.69,0.75,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ADAM18,SILENT,NM_014237.2:p.Thr497Thr/c.1491T>C,acT/acC,LOW,,0.00279553,0,rs61753675,,,,,,chr8,39525681,39525681,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr497Thr/c.1491T>C|739|ADAM18|protein_coding|CODING|NM_014237.2|14|1),,,,,0.0031,0.0058,0.007,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,IDO2,MISSENSE,NM_194294.2:p.Arg248Trp/c.742C>T,Cgg/Tgg,MODERATE,COSM3763340(2),0.418131,0.2877,rs10109853,,1.0(D),3.69(H),-0.9142(T),,chr8,39862881,39862881,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg248Trp/c.742C>T|420|IDO2|protein_coding|CODING|NM_194294.2|9|1),"HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5501,0.4582,0.5139,0.46,0.36,0.51,,0.000000(D),0.003(P),"-0.32,-0.32(T,T)",0.0000(T),0.556,3.900616,6.03,6.03,0.655000,2.861000,3.023000,0.998000,1.000000,1.000000,15.9341
synonymous_variant,IDO2,SILENT,NM_194294.2:p.Ser336Ser/c.1008A>C,tcA/tcC,LOW,,0.97484,1,rs2981161,,,,,,chr8,39872866,39872866,A,C,hom,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser336Ser/c.1008A>C|420|IDO2|protein_coding|CODING|NM_194294.2|11|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
stop_gained,IDO2,NONSENSE,NM_194294.2:p.Tyr359*/c.1077T>A,taT/taA,HIGH,COSM3763341(1),0.229832,0.3601,rs4503083,,,,,,chr8,39872935,39872935,T,A,het,stop_gained(HIGH|NONSENSE|taT/taA|p.Tyr359*/c.1077T>A|420|IDO2|protein_coding|CODING|NM_194294.2|11|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.2127,0.317,0.2107,0.18,0.11,0.21,,0.001422(N),0.000(P),,,.,3.694799,5.74,-2.22,-0.256000,-0.380000,0.394000,0.680000,0.988000,0.996000,15.0548
missense_variant,C8orf4,MISSENSE,NM_020130.4:p.Val10Ile/c.28G>A,Gtc/Atc,MODERATE,,0.986621,1,rs6474226,0.63(T),0.0(B),0(N),-0.9097(T),,chr8,40011079,40011079,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val10Ile/c.28G>A|106|C8orf4|protein_coding|CODING|NM_020130.4|1|1),"HepG2:H3K4me2,HeLa-S3:DNase1,IMR90:H3K9ac,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,HeLa-S3:TAF1,HepG2:PolII,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,IMR90:H3K4me3,IMR90:H4K8ac",,,,1,1,1,0.99,0.97,1.00,,0.023187(N),1.000(P),1.57(T),0.0000(T),0.033,0.993911,6.08,-12.2,-0.254000,-2.223000,-1.829000,0.271000,0.000000,0.000000,3.0262
synonymous_variant,ANK1,SILENT,NM_001142446.1:p.Val1796Val/c.5388G>A,gtG/gtA,LOW,COSM3763343(1),0.194688,0.1409,rs750625,0.14(T),,,-1.0885(T),,chr8,41525914,41525914,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1755Val/c.5265G>A|1880|ANK1|protein_coding|CODING|NM_000037.3|39|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1796Val/c.5388G>A|1897|ANK1|protein_coding|CODING|NM_001142446.1|40|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1755Val/c.5265G>A|1856|ANK1|protein_coding|CODING|NM_020475.2|39|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1755Val/c.5265G>A|1881|ANK1|protein_coding|CODING|NM_020476.2|39|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1593Val/c.4779G>A|1719|ANK1|protein_coding|CODING|NM_020477.2|39|1)","K562:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1902,0.2147,0.2406,0.23,0.20,0.24,,0.813257(N),1.000(P),-0.25(T),0.0000(T),.,-1.311843,4.17,2.34,0.313000,0.532000,1.235000,0.026000,0.007000,0.693000,7.2806
synonymous_variant,ANK1,SILENT,NM_001142446.1:p.Pro232Pro/c.696G>A,ccG/ccA,LOW,COSM1755724(4),0.105032,0.1577,rs2304873,,,,,,chr8,41583294,41583294,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro199Pro/c.597G>A|1880|ANK1|protein_coding|CODING|NM_000037.3|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro232Pro/c.696G>A|1897|ANK1|protein_coding|CODING|NM_001142446.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro199Pro/c.597G>A|1856|ANK1|protein_coding|CODING|NM_020475.2|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro199Pro/c.597G>A|1881|ANK1|protein_coding|CODING|NM_020476.2|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro199Pro/c.597G>A|1719|ANK1|protein_coding|CODING|NM_020477.2|6|1)","K562:PolII,HUVEC:H3K27me3,K562:H3K36me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1667,0.0893,0.1213,0.10,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,ANK1,SILENT,NM_001142446.1:p.Asn138Asn/c.414C>T,aaC/aaT,LOW,COSM3763345(1),0.228435,0.2242,rs2304871,,,,,,chr8,41585438,41585438,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn105Asn/c.315C>T|1880|ANK1|protein_coding|CODING|NM_000037.3|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn138Asn/c.414C>T|1897|ANK1|protein_coding|CODING|NM_001142446.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn105Asn/c.315C>T|1856|ANK1|protein_coding|CODING|NM_020475.2|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn105Asn/c.315C>T|1881|ANK1|protein_coding|CODING|NM_020476.2|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn105Asn/c.315C>T|1719|ANK1|protein_coding|CODING|NM_020477.2|4|1)","HUVEC:H3K27me3,K562:H3K36me3,IMR90:H3K27me3",,,,0.2669,0.219,0.2684,0.25,0.19,0.28,,,,,,,,,,,,,,,,
synonymous_variant,KAT6A,SILENT,NM_001099412.1:p.Ser1485Ser/c.4455C>T,tcC/tcT,LOW,COSM3763347(2),0.162141,0.2321,rs3739365,,,,,,chr8,41791283,41791283,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1485Ser/c.4455C>T|2004|KAT6A|protein_coding|CODING|NM_001099412.1|18|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1485Ser/c.4455C>T|2004|KAT6A|protein_coding|CODING|NM_001099413.1|18|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1485Ser/c.4455C>T|2004|KAT6A|protein_coding|CODING|NM_006766.3|17|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2587,0.183,0.0716,0.08,0.10,0.07,,,,,,,,,,,,,,,,
synonymous_variant,KAT6A,SILENT,NM_001099412.1:p.Pro994Pro/c.2982G>A,ccG/ccA,LOW,COSM3763348(3),0.163938,0.2341,rs3824275,,,,,,chr8,41798417,41798417,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro994Pro/c.2982G>A|2004|KAT6A|protein_coding|CODING|NM_001099412.1|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro994Pro/c.2982G>A|2004|KAT6A|protein_coding|CODING|NM_001099413.1|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro994Pro/c.2982G>A|2004|KAT6A|protein_coding|CODING|NM_006766.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.1859,0.0716,,,,,,,,,,,,,,,,,,,
missense_variant,KAT6A,MISSENSE,NM_001099412.1:p.Leu134Ser/c.401T>C,tTa/tCa,MODERATE,COSM3736469(2),0.163938,0.2331,rs3824276,0.81(T),"0.005,0.002(B,B)",0(N),-1.1212(T),,chr8,41906095,41906095,A,G,het,"missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu134Ser/c.401T>C|2004|KAT6A|protein_coding|CODING|NM_001099412.1|3|1),missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu134Ser/c.401T>C|2004|KAT6A|protein_coding|CODING|NM_001099413.1|3|1),missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu134Ser/c.401T>C|2004|KAT6A|protein_coding|CODING|NM_006766.3|2|1)","H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.2587,0.1859,0.0716,0.08,0.10,0.07,,0.199144(N),0.997(P),"0.27,0.27,0.27,-1.76(T,T,T,D)",0.0001(T),0.147,1.142555,5.75,3.39,-0.256000,0.459000,2.161000,0.930000,0.991000,1.000000,8.028
synonymous_variant,PLAT,SILENT,NM_000930.3:p.Asp167Asp/c.501C>T,gaC/gaT,LOW,COSM3763350(2),0.510783,0.504,rs1058720,,,,,,chr8,42044954,42044954,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp167Asp/c.501C>T|562|PLAT|protein_coding|CODING|NM_000930.3|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp121Asp/c.363C>T|516|PLAT|protein_coding|CODING|NM_033011.2|5|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.6166,0.5735,0.5855,0.51,0.40,0.56,,,,,,,,,,,,,,,,
synonymous_variant,HGSNAT,SILENT,NM_152419.2:p.Tyr583Tyr/c.1749T>C,taT/taC,LOW,,0.991613,1,rs1126058,,,,,,chr8,43054553,43054553,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr583Tyr/c.1749T>C|635|HGSNAT|protein_coding|CODING|NM_152419.2|18|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,RCV000082655.1,,1,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,PRKDC,MISSENSE,NM_006904.6:p.Met333Ile/c.999G>A,atG/atA,MODERATE,,0.0173722,0,rs386615931,0.41(T),"0.001,0.0,0.002(B,B,B)",,-1.0923(T),,chr8,48852225,48852225,C,T,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met333Ile/c.999G>A|4096|PRKDC|protein_coding|CODING|NM_001081640.1|11|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met333Ile/c.999G>A|4127|PRKDC|protein_coding|CODING|NM_006904.6|11|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0403,0.0497,0.03,0.00,0.05,,0.805056(N),1.000(N),"-0.1,-0.23(T,T)",0.0235(T),0.014,1.091375,5.73,1.73,0.655000,0.292000,0.038000,0.998000,0.446000,0.002000,9.6976
missense_variant,MCM4,MISSENSE,NM_005914.3:p.Leu650Met/c.1948T>A,Ttg/Atg,MODERATE,,0.914137,1,rs762679,0.83(T),0.011(B),0.18(N),-0.9419(T),,chr8,48885436,48885436,T,A,hom,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu650Met/c.1948T>A|863|MCM4|protein_coding|CODING|NM_005914.3|13|1),missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu650Met/c.1948T>A|863|MCM4|protein_coding|CODING|NM_182746.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8548,0.9222,0.8449,0.87,0.92,0.85,,0.000000(N),0.000(P),"2.56,2.56(T,T)",0.0000(T),0.275,1.117856,5.32,5.32,-0.364000,0.967000,7.133000,0.990000,1.000000,1.000000,10.7376
missense_variant,PXDNL,MISSENSE,NM_144651.4:p.Asp1452Glu/c.4356C>A,gaC/gaA,MODERATE,COSM3763356(1),0.3125,0.1111,rs1052704,0.82(T),0.004(B),0.125(N),-0.9617(T),,chr8,52232487,52232487,G,T,het,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp1452Glu/c.4356C>A|1463|PXDNL|protein_coding|CODING|NM_144651.4|23|1),,,,,0.227,0.2118,0.2396,0.35,0.55,0.26,,,1.000(P),-0.12(T),0.0000(T),0.103,0.038775,4.37,-0.13,-0.136000,-0.131000,-0.186000,0.002000,0.050000,0.005000,3.7549
missense_variant,PXDNL,MISSENSE,NM_144651.4:p.Arg1399Lys/c.4196G>A,aGa/aAa,MODERATE,COSM1457422(2),0.321286,0.1429,rs7827446,,,-0.67(N),-0.9428(T),,chr8,52233408,52233408,C,T,het,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg1399Lys/c.4196G>A|1463|PXDNL|protein_coding|CODING|NM_144651.4|22|1),,,,,0.2311,0.2291,0.2396,0.35,0.54,0.26,,,0.003(P),,0.0000(T),.,-0.594680,4.49,0.646,-2.070000,-0.466000,-0.062000,0.001000,0.403000,0.000000,4.1727
missense_variant,PXDNL,MISSENSE,NM_144651.4:p.Met981Val/c.2941A>G,Atg/Gtg,MODERATE,COSM4163007(1),0.831869,0.9335,rs2977020,0.4(T),0.0(B),-1.955(N),-0.9923(T),,chr8,52321243,52321243,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met981Val/c.2941A>G|1463|PXDNL|protein_coding|CODING|NM_144651.4|17|1),H1ESC:H3K36me3,,,,0.817,0.8588,0.8499,0.81,0.77,0.83,,0.811243(N),1.000(P),"-0.1,-0.1(T,T)",0.0000(T),0.155,-1.453636,4.01,-2.82,-1.245000,-0.834000,-0.071000,0.000000,0.000000,0.425000,5.778
synonymous_variant,PXDNL,SILENT,NM_144651.4:p.His376His/c.1128C>T,caC/caT,LOW,,0.746006,0.6915,rs6473599,,,,,,chr8,52366200,52366200,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His376His/c.1128C>T|1463|PXDNL|protein_coding|CODING|NM_144651.4|10|1),,,,,0.8466,0.9193,0.9274,0.83,0.59,0.94,,,,,,,,,,,,,,,,
synonymous_variant,PXDNL,SILENT,NM_144651.4:p.Leu371Leu/c.1111C>T,Ctg/Ttg,LOW,COSM3982548(1),0.152556,0.0605,rs386465682,,,,,,chr8,52366217,52366217,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu371Leu/c.1111C>T|1463|PXDNL|protein_coding|CODING|NM_144651.4|10|1),,,,,0.1943,0.1167,0.1163,0.15,0.21,0.13,,,,,,,,,,,,,,,,
missense_variant,PXDNL,MISSENSE,NM_144651.4:p.Ile343Thr/c.1028T>C,aTt/aCt,MODERATE,,0.153155,0.0615,rs7833909,0.11(T),0.296(B),0.09(N),-0.9706(T),,chr8,52366300,52366300,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile343Thr/c.1028T>C|1463|PXDNL|protein_coding|CODING|NM_144651.4|10|1),,,,,0.1943,0.1167,0.1163,0.16,0.21,0.13,,,0.992(P),"1.68,1.68(T,T)",0.0000(T),0.079,1.080709,4.14,1.65,0.482000,0.047000,4.012000,0.440000,0.898000,1.000000,4.2178
synonymous_variant,PXDNL,SILENT,NM_144651.4:p.Pro162Pro/c.486A>G,ccA/ccG,LOW,,0.234824,0.0605,rs7837348,,,,,,chr8,52396241,52396241,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro162Pro/c.486A>G|1463|PXDNL|protein_coding|CODING|NM_144651.4|6|1),,,,,0.2076,0.245,0.1441,0.20,0.32,0.14,,,,,,,,,,,,,,,,
missense_variant,PCMTD1,MISSENSE,NM_052937.3:p.Asn312Ile/c.935A>T,aAc/aTc,MODERATE,COSM3982549(1),0.445487,0.4792,rs12335014,0.13(T),"0.133,0.008(B,B)",0.69(N),-0.9610(T),,chr8,52733050,52733050,T,A,hom,"missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn236Ile/c.707A>T|281|PCMTD1|protein_coding|CODING|NM_001286782.1|4|1),missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn136Ile/c.407A>T|181|PCMTD1|protein_coding|CODING|NM_001286783.1|6|1),missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn312Ile/c.935A>T|357|PCMTD1|protein_coding|CODING|NM_052937.3|6|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.6268,0.6254,0.6292,0.49,0.16,0.66,,0.484695(N),0.000(P),"0.79,0.79,0.79(T,T,T)",0.0000(T),0.129,2.110648,5.97,0.36,0.533000,0.044000,0.918000,0.993000,0.925000,0.969000,5.5868
synonymous_variant,PCMTD1,SILENT,NM_052937.3:p.Glu303Glu/c.909A>G,gaA/gaG,LOW,COSM4163017(1),,,rs77409139,,,,,,chr8,52733076,52733076,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu227Glu/c.681A>G|281|PCMTD1|protein_coding|CODING|NM_001286782.1|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu127Glu/c.381A>G|181|PCMTD1|protein_coding|CODING|NM_001286783.1|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu303Glu/c.909A>G|357|PCMTD1|protein_coding|CODING|NM_052937.3|6|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PCMTD1,MISSENSE,NM_052937.3:p.Asn286Thr/c.857A>C,aAc/aCc,MODERATE,COSM4163019(2),,,rs62506083,0.54(T),"0.013,0.73,0.02(B,P,B)",1.78(L),-0.8796(T),,chr8,52733128,52733128,T,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn210Thr/c.629A>C|281|PCMTD1|protein_coding|CODING|NM_001286782.1|4|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn110Thr/c.329A>C|181|PCMTD1|protein_coding|CODING|NM_001286783.1|6|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn286Thr/c.857A>C|357|PCMTD1|protein_coding|CODING|NM_052937.3|6|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,,,,,,,,0.000007(D),1.000(D),"0.84,0.84,0.84(T,T,T)",0.1940(T),0.126,2.027585,5.96,5.96,0.528000,2.277000,4.403000,0.964000,0.999000,1.000000,16.4311
missense_variant,PCMTD1,MISSENSE,NM_052937.3:p.Arg253Cys/c.757C>T,Cgc/Tgc,MODERATE,COSM3727837(1),,,rs73592211,0.07(T),"0.899,0.061,0.081(P,B,B)",1.87(L),-0.6440(T),,chr8,52733228,52733228,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg177Cys/c.529C>T|281|PCMTD1|protein_coding|CODING|NM_001286782.1|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg77Cys/c.229C>T|181|PCMTD1|protein_coding|CODING|NM_001286783.1|6|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg253Cys/c.757C>T|357|PCMTD1|protein_coding|CODING|NM_052937.3|6|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,RCV000068335.2,,,,,,,,,0.000000(D),1.000(D),"1.43,0.83,1.43(T,T,T)",0.2397(T),0.669,4.044757,5.76,4.89,0.650000,1.438000,8.903000,0.970000,0.985000,1.000000,14.8982
synonymous_variant,PCMTD1,SILENT,NM_052937.3:p.Val169Val/c.507G>A,gtG/gtA,LOW,COSM3982550(1),0.445887,0.4802,rs9298462,,,,-0.9744(T),,chr8,52746153,52746153,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val93Val/c.279G>A|281|PCMTD1|protein_coding|CODING|NM_001286782.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val169Val/c.507G>A|357|PCMTD1|protein_coding|CODING|NM_052937.3|4|1),5_prime_UTR_variant(MODIFIER||22|c.-22G>A|181|PCMTD1|protein_coding|CODING|NM_001286783.1|4|1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6268,0.6268,0.6292,0.50,0.16,0.68,,,0.000(P),,0.0000(T),.,2.822254,5.48,0.404,-0.934000,-0.486000,-0.023000,0.937000,0.968000,0.864000,1.6916
synonymous_variant,RB1CC1,SILENT,NM_014781.4:p.Glu903Glu/c.2709G>A,gaG/gaA,LOW,,0.0147764,0,rs62499947,,,,,,chr8,53569680,53569680,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu903Glu/c.2709G>A|1591|RB1CC1|protein_coding|CODING|NM_001083617.1|15|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu903Glu/c.2709G>A|1594|RB1CC1|protein_coding|CODING|NM_014781.4|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0259,0.0497,0.03,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,RB1CC1,MISSENSE,NM_014781.4:p.Met234Thr/c.701T>C,aTg/aCg,MODERATE,COSM3763359(1),0.502995,0.8393,rs17337252,0.67(T),"0.0,0.0(B,B)",-0.69(N),-1.0342(T),,chr8,53586706,53586706,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met234Thr/c.701T>C|1591|RB1CC1|protein_coding|CODING|NM_001083617.1|7|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met234Thr/c.701T>C|1594|RB1CC1|protein_coding|CODING|NM_014781.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4816,0.6095,0.5,0.41,0.25,0.49,,0.310238(N),0.963(P),"2.63,2.63,2.63(T,T,T)",0.0000(T),0.136,1.013096,5.36,2.99,0.383000,0.976000,2.354000,0.803000,0.893000,0.485000,3.6785
synonymous_variant,OPRK1,SILENT,NM_000912.3:p.Val282Val/c.846C>T,gtC/gtT,LOW,,0.061901,0,rs16918875,,,,,,chr8,54142154,54142154,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val282Val/c.846C>T|380|OPRK1|protein_coding|CODING|NM_000912.3|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val193Val/c.579C>T|291|OPRK1|protein_coding|CODING|NM_001282904.1|5|1)",GM06990:H3K27me3,,,,0.0297,0.0317,0.0417,0.09,0.15,0.05,,,,,,,,,,,,,,,,
synonymous_variant,OPRK1,SILENT,NM_000912.3:p.Ala281Ala/c.843A>G,gcA/gcG,LOW,,0.244609,0.0764,rs702764,,,,,,chr8,54142157,54142157,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala281Ala/c.843A>G|380|OPRK1|protein_coding|CODING|NM_000912.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala192Ala/c.576A>G|291|OPRK1|protein_coding|CODING|NM_001282904.1|5|1)",GM06990:H3K27me3,,,,0.1053,0.2709,0.1402,0.25,0.47,0.14,,,,,,,,,,,,,,,,
synonymous_variant,OPRK1,SILENT,NM_000912.3:p.Pro12Pro/c.36G>T,ccG/ccT,LOW,COSM3763360(6),0.114417,0.1478,rs1051660,,,,,,chr8,54163562,54163562,C,A,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro12Pro/c.36G>T|380|OPRK1|protein_coding|CODING|NM_000912.3|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||291|OPRK1|protein_coding|CODING|NM_001282904.1|2|1),5_prime_UTR_variant(MODIFIER||15901|c.-406G>T|291|OPRK1|protein_coding|CODING|NM_001282904.1|2|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1881,0.0476,0.0785,0.09,0.10,0.09,,,,,,,,,,,,,,,,
missense_variant,RP1,MISSENSE,NM_006269.1:p.Asn985Tyr/c.2953A>T,Aat/Tat,MODERATE,COSM3763361(1),0.25,0.0675,rs2293869,0(D),0.819(P),1.995(M),-0.9625(T),,chr8,55539395,55539395,A,T,hom,missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn985Tyr/c.2953A>T|2156|RP1|protein_coding|CODING|NM_006269.1|4|1),HUVEC:H3K27me3,,RCV000006333.2|RCV000081369.1,,0.3292,0.2522,0.4264,0.35,0.21,0.42,,0.038456(N),1.000(P),0.46(T),0.0000(T),0.251,1.354246,5.62,1.94,0.533000,0.093000,1.592000,0.148000,0.004000,0.054000,5.9509
missense_variant,RP1,MISSENSE,NM_006269.1:p.Cys2033Tyr/c.6098G>A,tGt/tAt,MODERATE,COSM3763362(3),0.215655,0.0675,rs61739567,1(T),0.001(B),0.84(L),-0.9202(T),,chr8,55542540,55542540,G,A,hom,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys2033Tyr/c.6098G>A|2156|RP1|protein_coding|CODING|NM_006269.1|4|1),,,RCV000081376.1,,0.3282,0.245,0.4264,0.31,0.12,0.42,,0.206202(N),1.000(P),2.18(T),0.0000(T),0.15,-3.520656,5.25,0.404,0.591000,0.153000,-0.012000,0.012000,0.014000,0.493000,0.7012
missense_variant,TGS1,MISSENSE,NM_024831.6:p.Ile16Thr/c.47T>C,aTt/aCt,MODERATE,,0.860423,0.9901,rs1818,0.5(T),0.036(B),1.79(L),-0.9214(T),,chr8,56686224,56686224,T,C,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile16Thr/c.47T>C|853|TGS1|protein_coding|CODING|NM_024831.6|1|1),upstream_gene_variant(MODIFIER||258||135|TMEM68|protein_coding|CODING|NM_001286660.1||1),upstream_gene_variant(MODIFIER||258||144|TMEM68|protein_coding|CODING|NM_001286661.1||1),upstream_gene_variant(MODIFIER||258||257|TMEM68|protein_coding|CODING|NM_152417.2||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K56ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:Ap2alpha,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.8497,0.8775,0.8897,0.85,0.76,0.89,,0.638339(N),1.000(P),2.88(T),0.0000(T),0.153,1.124151,4.97,3.81,0.533000,1.009000,1.986000,0.264000,0.009000,0.008000,7.7394
missense_variant,TGS1,MISSENSE,NM_024831.6:p.Ile511Thr/c.1532T>C,aTt/aCt,MODERATE,,0.14377,0.0099,rs10100659,1(T),"0.0,0.0(B,B)",-2.125(N),-0.9544(T),,chr8,56708701,56708701,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile511Thr/c.1532T>C|853|TGS1|protein_coding|CODING|NM_024831.6|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1503,0.121,0.1103,0.16,0.26,0.11,,0.094404(N),1.000(P),1.21(T),0.0000(T),0.013,-0.552964,6.17,4.37,-0.766000,0.486000,2.096000,0.941000,0.442000,0.999000,9.9018
missense_variant,TGS1,MISSENSE,NM_024831.6:p.Thr595Ala/c.1783A>G,Act/Gct,MODERATE,,0.114816,0.0099,rs10109493,0.93(T),"0.0,0.0(B,B)",-0.485(N),-0.9665(T),,chr8,56711713,56711713,A,G,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr595Ala/c.1783A>G|853|TGS1|protein_coding|CODING|NM_024831.6|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1503,0.1167,0.1103,0.13,0.17,0.11,,0.068340(N),1.000(P),3.02(T),0.0000(T),0.007,-0.013212,5.94,-7.35,-0.263000,-1.389000,-0.427000,0.001000,0.000000,0.000000,5.9341
missense_variant,TGS1,MISSENSE,NM_024831.6:p.Phe754Cys/c.2261T>G,tTt/tGt,MODERATE,,0.14377,0.0099,rs7823773,0.08(T),0.0(B),0.805(L),-1.0238(T),,chr8,56723557,56723557,T,G,het,missense_variant(MODERATE|MISSENSE|tTt/tGt|p.Phe754Cys/c.2261T>G|853|TGS1|protein_coding|CODING|NM_024831.6|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1503,0.121,0.1103,0.16,0.26,0.11,,0.292059(N),1.000(P),0.95(T),0.0000(T),0.113,1.557800,5.47,-7.97,-0.121000,-2.030000,0.021000,0.929000,0.000000,0.000000,5.7511
missense_variant,RPS20,MISSENSE,NM_001146227.1:p.Ser115Pro/c.343T>C,Tct/Cct,MODERATE,,0.028754,0.0208,rs79444047,0.01(D),0.003(B),,-1.0625(T),,chr8,56982383,56982383,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser115Pro/c.343T>C|142|RPS20|protein_coding|CODING|NM_001146227.1|5|1),"GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.013,0,0.02,0.07,0.00,,,1.000(N),,0.0033(T),0.032,0.012964,0.81,0.81,0.379000,0.591000,0.349000,0.003000,0.002000,0.023000,3.8417
synonymous_variant,NSMAF,SILENT,NM_001144772.1:p.Asp507Asp/c.1521C>T,gaC/gaT,LOW,,0.929313,0.9792,rs2680903,,,,,,chr8,59512334,59512334,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp507Asp/c.1521C>T|948|NSMAF|protein_coding|CODING|NM_001144772.1|18|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp476Asp/c.1428C>T|917|NSMAF|protein_coding|CODING|NM_003580.3|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9693,0.9352,0.9294,0.91,0.88,0.93,,,,,,,,,,,,,,,,
missense_variant,NSMAF,MISSENSE,NM_001144772.1:p.Ile17Ser/c.50T>G,aTc/aGc,MODERATE,COSM454713(5),0.269169,0.497,rs59606339,,0.0(B),,-0.9270(T),,chr8,59571856,59571856,A,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile17Ser/c.50T>G|948|NSMAF|protein_coding|CODING|NM_001144772.1|1|1),intron_variant(MODIFIER|||c.59+276T>G|917|NSMAF|protein_coding|CODING|NM_003580.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1094,0.1037,0.0467,,,,,,1.000(P),0.52(T),0.0000(T),0.041,-1.090991,1.89,-0.128,-0.358000,-0.396000,0.459000,0.005000,0.000000,0.000000,0.796
synonymous_variant,CA8,SILENT,NM_004056.4:p.Glu109Glu/c.327A>G,gaA/gaG,LOW,COSM3763364(2),0.500998,0.2669,rs7464181,,,,,,chr8,61178574,61178574,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu109Glu/c.327A>G|290|CA8|protein_coding|CODING|NM_004056.4|3|1),"K562:H3K36me3,HepG2:H3K27me3",,RCV000116510.2,,0.4294,0.3977,0.4235,0.53,0.76,0.41,,,,,,,,,,,,,,,,
synonymous_variant,NKAIN3,SILENT,NM_173688.2:p.Thr131Thr/c.393G>A,acG/acA,LOW,,0.429912,0.3095,rs1319275,,,,,,chr8,63659610,63659610,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr131Thr/c.393G>A|197|NKAIN3|protein_coding|CODING|NM_173688.2|4|1),,,,,0.547,0.5836,0.6441,0.54,0.28,0.67,,,,,,,,,,,,,,,,
synonymous_variant,MTFR1,SILENT,NM_001145839.1:p.Gln14Gln/c.42A>G,caA/caG,LOW,,0.000798722,0,rs140777926,,,,-0.9367(T),,chr8,66582229,66582229,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln14Gln/c.42A>G|300|MTFR1|protein_coding|CODING|NM_001145838.1|1|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln14Gln/c.42A>G|348|MTFR1|protein_coding|CODING|NM_001145839.1|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln14Gln/c.42A>G|333|MTFR1|protein_coding|CODING|NM_014637.3|2|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.002,0,0.002,0.00,0.00,0.01,,,1.000(D),,0.1159(T),.,1.047016,5.38,-4.62,-1.171000,-1.256000,-0.005000,0.985000,0.873000,0.979000,7.1304
stop_retained_variant,MTFR1,SILENT,NM_001145839.1:p.Ter349Ter/c.1046G>A,tGa/tAa,LOW,,0.277356,0,rs13274205,,,,,,chr8,66620359,66620359,G,A,hom,"stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter349Ter/c.1046G>A|348|MTFR1|protein_coding|CODING|NM_001145839.1|7|1),intron_variant(MODIFIER|||c.834+113G>A|300|MTFR1|protein_coding|CODING|NM_001145838.1|5|1),intron_variant(MODIFIER|||c.933+113G>A|333|MTFR1|protein_coding|CODING|NM_014637.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2117,0.3156,0.5348,0.49,0.34,0.55,,,,,,,,,,,,,,,,
missense_variant,RRS1,MISSENSE,NM_015169.3:p.Gly321Asp/c.962G>A,gGc/gAc,MODERATE,,0.000199681,0,rs34974332,0.36(T),0.006(B),2.095(M),0.2862(D),,chr8,67342328,67342328,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly321Asp/c.962G>A|365|RRS1|protein_coding|CODING|NM_015169.3|1|1),upstream_gene_variant(MODIFIER||1116|||RRS1-AS1||NON_CODING|NR_040434.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,IMR90:H3K27ac,K562:H3K9ac,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0,0,0.001,0.00,0.00,0.00,,0.000006(D),1.000(D),-3.94(D),0.7757(D),0.356,1.854728,5.26,4.37,0.537000,2.647000,2.019000,0.804000,0.996000,1.000000,10.0654
synonymous_variant,VCPIP1,SILENT,NM_025054.4:p.His672His/c.2016C>T,caC/caT,LOW,COSM4163043(1),0.034345,0,rs61753692,,,,,,chr8,67577178,67577178,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His672His/c.2016C>T|1222|VCPIP1|protein_coding|CODING|NM_025054.4|1|1),"K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.045,0.049,0.0845,0.07,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,C8orf44,MISSENSE,NM_019607.2:p.Phe148Ser/c.443T>C,tTc/tCc,MODERATE,COSM3982563(1),0.21845,0.2401,rs1057463,0.48(T),0.522(P),0(N),-0.9983(T),,chr8,67592152,67592152,T,C,het,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe148Ser/c.443T>C|159|C8orf44|protein_coding|CODING|NM_019607.2|3|1),5_prime_UTR_variant(MODIFIER||113820|c.-285T>C|496|C8orf44-SGK3|protein_coding|CODING|NM_001204173.1|2|1)","HeLa-S3:Jund,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K27ac,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Junb,K562:Cjun,NHEK:H3K36me3,HMEC:DNase1,K562:DNase1",,,,0.3384,0.2291,0.2922,0.23,0.09,0.29,,,1.000(P),"1.12,1.12(T,T)",0.0000(T),0.27,2.602370,3.99,2.84,0.460000,0.893000,1.327000,0.089000,0.020000,0.004000,6.239
missense_variant,CPA6,MISSENSE,NM_020361.4:p.Gly267Arg/c.799G>A,Gga/Aga,MODERATE,,0.00139776,0,rs61738009,0(D),"1.0,1.0,1.0(D,D,D)",4.22(H),0.4316(D),,chr8,68396042,68396042,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly267Arg/c.799G>A|437|CPA6|protein_coding|CODING|NM_020361.4|8|1),HUVEC:H3K27me3,,,,0,0.0029,0.002,0.00,0.00,0.00,,0.000000(D),1.000(D),"0.59,0.59,1.97(T,T,T)",0.5332(D),0.988,5.016183,5.18,5.18,0.643000,2.567000,7.071000,0.946000,0.998000,1.000000,17.8356
missense_variant,CPA6,MISSENSE,NM_020361.4:p.Asn249Ser/c.746A>G,aAt/aGt,MODERATE,,0.0790735,0,rs17343819,0.5(T),"0.005,0.006,0.004(B,B,B)",-0.08(N),-0.9507(T),,chr8,68396915,68396915,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn249Ser/c.746A>G|437|CPA6|protein_coding|CODING|NM_020361.4|7|1),splice_region_variant(LOW|||c.746A>G|437|CPA6|protein_coding|CODING|NM_020361.4|7|1)",HUVEC:H3K27me3,,RCV000116827.2,,0.0706,0.121,0.166,0.12,0.06,0.16,,0.018439(N),0.993(P),"2.91,2.91,2.91(T,T,T)",0.0001(T),0.014,0.833381,5.25,4.09,0.523000,2.096000,0.915000,0.956000,0.999000,0.999000,8.4804
missense_variant,CPA6,MISSENSE,NM_020361.4:p.Gln207Glu/c.619C>G,Cag/Gag,MODERATE,,0.000798722,0,rs35993949,0.05(D),"0.99,0.979,0.898(D,D,P)",0.96(L),-1.1441(T),,chr8,68419039,68419039,G,C,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln207Glu/c.619C>G|437|CPA6|protein_coding|CODING|NM_020361.4|6|1),GM12878:H3K4me1,,,,0,0.0029,0.002,0.00,0.00,0.00,,0.000000(D),1.000(D),"2.83,2.83,2.83(T,T,T)",0.0570(T),0.958,4.207124,5.31,5.31,0.655000,2.474000,8.377000,0.999000,1.000000,1.000000,17.7485
synonymous_variant,PREX2,SILENT,NM_024870.2:p.Arg399Arg/c.1195C>A,Cga/Aga,LOW,COSM3982569(1),0.561701,0.2688,rs1434774,,,,,,chr8,68968166,68968166,C,A,het,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg399Arg/c.1195C>A|1606|PREX2|protein_coding|CODING|NM_024870.2|10|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg399Arg/c.1195C>A|979|PREX2|protein_coding|CODING|NM_025170.4|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3",,,,0.5245,0.4755,0.5239,0.60,0.82,0.49,,,,,,,,,,,,,,,,
synonymous_variant,PREX2,SILENT,NM_024870.2:p.Lys400Lys/c.1200G>A,aaG/aaA,LOW,COSM3982571(1),0.561701,0.2688,rs1434775,,,,,,chr8,68968171,68968171,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys400Lys/c.1200G>A|1606|PREX2|protein_coding|CODING|NM_024870.2|10|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys400Lys/c.1200G>A|979|PREX2|protein_coding|CODING|NM_025170.4|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3",,,,0.5245,0.4755,0.5239,0.60,0.82,0.49,,,,,,,,,,,,,,,,
synonymous_variant,PREX2,SILENT,NM_024870.2:p.Gly606Gly/c.1818A>G,ggA/ggG,LOW,COSM3763378(1),0.523962,0.4722,rs12682458,,,,,,chr8,68993013,68993013,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly606Gly/c.1818A>G|1606|PREX2|protein_coding|CODING|NM_024870.2|17|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly606Gly/c.1818A>G|979|PREX2|protein_coding|CODING|NM_025170.4|17|1)",HUVEC:H3K36me3,,,,0.5706,0.4524,0.5696,0.54,0.54,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PREX2,SILENT,NM_024870.2:p.Leu607Leu/c.1819T>C,Tta/Cta,LOW,COSM3763380(1),0.523962,0.4722,rs12680555,,,,,,chr8,68993014,68993014,T,C,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu607Leu/c.1819T>C|1606|PREX2|protein_coding|CODING|NM_024870.2|17|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu607Leu/c.1819T>C|979|PREX2|protein_coding|CODING|NM_025170.4|17|1)",HUVEC:H3K36me3,,,,0.5706,0.4524,0.5696,0.54,0.54,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PREX2,SILENT,NM_024870.2:p.Lys1294Lys/c.3882G>A,aaG/aaA,LOW,COSM3982578(1),0.121006,0.1865,rs3793379,,,,,,chr8,69046409,69046409,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1294Lys/c.3882G>A|1606|PREX2|protein_coding|CODING|NM_024870.2|32|1),"H1ESC:H3K36me3,HUVEC:H3K36me3",,,,0.138,0.2003,0.1153,0.10,0.04,0.13,,,,,,,,,,,,,,,,
missense_variant,SULF1,MISSENSE,NM_001128204.1:p.Arg723Lys/c.2168G>A,aGg/aAg,MODERATE,,,,,1(T),0.001(B),0.69(N),-1.0556(T),,chr8,70541798,70541798,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg723Lys/c.2168G>A|871|SULF1|protein_coding|CODING|NM_001128204.1|18|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg723Lys/c.2168G>A|871|SULF1|protein_coding|CODING|NM_001128205.1|19|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg723Lys/c.2168G>A|871|SULF1|protein_coding|CODING|NM_001128206.1|18|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg723Lys/c.2168G>A|871|SULF1|protein_coding|CODING|NM_015170.2|19|1)","CD4:H2AZ,HSMM:H3K36me3",,,,,,,,,,,0.000004(D),0.946(D),"1.95,1.95,1.95,1.95(T,T,T,T)",0.0267(T),0.199,0.539847,4.62,3.74,0.563000,1.144000,3.995000,0.856000,0.986000,1.000000,9.3522
missense_variant,SLCO5A1,MISSENSE,NM_030958.2:p.Leu33Phe/c.97C>T,Ctc/Ttc,MODERATE,COSM3763390(3),0.491414,0.3165,rs3750266,1(T),"0.0,0.0,0.0,0.001(B,B,B,B)",-0.895(N),-0.9553(T),,chr8,70744812,70744812,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu33Phe/c.97C>T|793|SLCO5A1|protein_coding|CODING|NM_001146009.1|1|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu33Phe/c.97C>T|848|SLCO5A1|protein_coding|CODING|NM_030958.2|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu33Phe/c.97C>T|687|SLCO5A1|protein_coding|CODING|NM_001146008.1|1|1)","NHEK:CTCF,GM12878:H3K4me3,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,GM12878:H3K79me2,H1ESC:DNase1,HSMM:CTCF,GM06990:H3K4me3,GM12878:CTCF,HMEC:CTCF,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.4969,0.3631,0.4344,0.51,0.67,0.43,,0.052642(N),1.000(P),"1.22,1.59,1.15(T,T,T)",0.0000(T),0.024,-1.798019,5.46,-1.34,-1.763000,-0.146000,0.014000,0.322000,0.316000,0.669000,5.7082
synonymous_variant,PRDM14,SILENT,NM_024504.3:p.Arg505Arg/c.1515C>T,cgC/cgT,LOW,,0.000199681,0,,,,,,,chr8,70964513,70964513,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg505Arg/c.1515C>T|571|PRDM14|protein_coding|CODING|NM_024504.3|8|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.001,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,XKR9,SILENT,NM_001011720.1:p.Ala44Ala/c.132G>A,gcG/gcA,LOW,COSM3763393(2),0.252196,0.0734,rs6991329,,,,,,chr8,71593425,71593425,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala44Ala/c.132G>A|373|XKR9|protein_coding|CODING|NM_001011720.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala44Ala/c.132G>A|373|XKR9|protein_coding|CODING|NM_001287259.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala44Ala/c.132G>A|373|XKR9|protein_coding|CODING|NM_001287260.1|3|1),5_prime_UTR_variant(MODIFIER||25867|c.-383G>A|241|XKR9|protein_coding|CODING|NM_001287258.1|3|1)",,,,,0.1697,0.2939,0.5159,0.43,0.26,0.51,,,,,,,,,,,,,,,,
synonymous_variant,TRPA1,SILENT,NM_007332.2:p.Leu544Leu/c.1630C>T,Ctg/Ttg,LOW,,0.580471,0.6905,rs3735943,,,,,,chr8,72966002,72966002,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu544Leu/c.1630C>T|1119|TRPA1|protein_coding|CODING|NM_007332.2|13|1),non_coding_exon_variant(MODIFIER|||n.1662G>A||LOC100132891||NON_CODING|NR_033651.1|3|1),non_coding_exon_variant(MODIFIER|||n.2257G>A||LOC100132891||NON_CODING|NR_033652.1|5|1)","HSMM:H3K36me3,IMR90:H3K36me3",,,,0.6063,0.6671,0.4791,0.50,0.51,0.49,,,,,,,,,,,,,,,,
missense_variant,TRPA1,MISSENSE,NM_007332.2:p.Val299Met/c.895G>A,Gtg/Atg,MODERATE,,0.00678914,0,rs35703015,0.1(T),0.008(B),0.69(N),-1.0633(T),,chr8,72973909,72973909,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val299Met/c.895G>A|1119|TRPA1|protein_coding|CODING|NM_007332.2|7|1),IMR90:H3K36me3,,,,0.0112,0.013,0.0119,0.01,0.00,0.01,,0.141352(N),1.000(N),"0.48,0.86(T,T)",0.0426(T),0.041,-0.063558,4.94,0.872,-0.290000,0.358000,0.130000,0.088000,0.000000,0.000000,4.2278
missense_variant,TRPA1,MISSENSE,NM_007332.2:p.Lys186Asn/c.558A>C,aaA/aaC,MODERATE,,0.827676,0.9752,rs7819749,0.42(T),0.001(B),0.43(N),-0.9751(T),,chr8,72975801,72975801,T,G,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys186Asn/c.558A>C|1119|TRPA1|protein_coding|CODING|NM_007332.2|5|1),"HSMM:H3K36me3,IMR90:H3K36me3",,,,0.7505,0.7695,0.6074,0.71,0.92,0.60,,0.126429(N),1.000(P),"-0.14,-0.14(T,T)",0.0000(T),0.021,2.195311,5.62,-11.2,-1.104000,-2.413000,-0.526000,0.830000,0.019000,0.150000,5.4121
synonymous_variant,TRPA1,SILENT,NM_007332.2:p.Asn125Asn/c.375T>C,aaT/aaC,LOW,,0.806909,0.9752,rs1811457,,,,,,chr8,72981327,72981327,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn125Asn/c.375T>C|1119|TRPA1|protein_coding|CODING|NM_007332.2|3|1),IMR90:H3K36me3,,,,0.7505,0.7608,0.6074,0.69,0.87,0.60,,,,,,,,,,,,,,,,
missense_variant,TRPA1,MISSENSE,NM_007332.2:p.Arg58Thr/c.173G>C,aGa/aCa,MODERATE,COSM3763396(2),0.101637,0.0565,rs16937976,0.51(T),0.002(B),-0.345(N),-1.0412(T),,chr8,72984041,72984041,C,G,het,missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg58Thr/c.173G>C|1119|TRPA1|protein_coding|CODING|NM_007332.2|2|1),IMR90:H3K36me3,,,,0.1166,0.0749,0.173,0.14,0.08,0.17,,0.514708(N),1.000(P),1.1(T),0.0001(T),0.032,0.290729,5.08,-4.1,-0.251000,-0.237000,-0.077000,0.000000,0.000000,0.000000,6.303
missense_variant,TRPA1,MISSENSE,NM_007332.2:p.Arg3Cys/c.7C>T,Cgc/Tgc,MODERATE,COSM3763397(3),0.100439,0.0565,rs13268757,0(D),0.001(B),1.195(L),-1.0931(T),,chr8,72987638,72987638,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg3Cys/c.7C>T|1119|TRPA1|protein_coding|CODING|NM_007332.2|1|1),"K562:Max,K562:H3K4me3,K562:PolII,HUVEC:H3K27me3,IMR90:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,IMR90:H3K4me3",,,,0.1145,0.0735,0.173,0.14,0.08,0.17,,0.002767(N),0.016(P),0.97(T),0.0003(T),0.085,1.352754,4.58,2.73,-0.875000,0.256000,0.071000,0.224000,0.999000,0.997000,8.9297
synonymous_variant,KCNB2,SILENT,NM_004770.2:p.Val871Val/c.2613G>A,gtG/gtA,LOW,COSM3763398(1),0.236222,0.0942,rs11782118,,,,,,chr8,73850203,73850203,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val871Val/c.2613G>A|911|KCNB2|protein_coding|CODING|NM_004770.2|3|1),"GM06990:H3K27me3,GM12878:H3K36me3",,,,0.2035,0.2767,0.4314,0.35,0.23,0.41,,,,,,,,,,,,,,,,
missense_variant,SBSPON,MISSENSE,NM_153225.3:p.Trp186Arg/c.556T>C,Tgg/Cgg,MODERATE,,0.575679,0.2937,rs2291219,1(T),0.0(B),-1.955(N),-0.9628(T),,chr8,73982161,73982161,A,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp186Arg/c.556T>C|264|SBSPON|protein_coding|CODING|NM_153225.3|4|1),,,,,0.6145,0.4697,0.6779,0.72,0.74,0.71,,0.000247(N),1.000(P),2.01(T),0.0000(T),0.04,-1.783795,6.06,3.22,-0.821000,0.125000,2.568000,0.042000,0.683000,0.998000,6.948
missense_variant,STAU2,MISSENSE,NM_001164380.1:p.Val198Met/c.592G>A,Gtg/Atg,MODERATE,,0.854633,0.9692,rs386622981,0.16(T),"0.003,0.003,0.0,0.004,0.0,0.001,0.019(B,B,B,B,B,B,B)",,-1.0568(T),,chr8,74527996,74527996,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val198Met/c.592G>A|570|STAU2|protein_coding|CODING|NM_001164380.1|8|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val166Met/c.496G>A|538|STAU2|protein_coding|CODING|NM_001164381.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val94Met/c.280G>A|504|STAU2|protein_coding|CODING|NM_001164382.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val26Met/c.76G>A|398|STAU2|protein_coding|CODING|NM_001164383.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val166Met/c.496G>A|479|STAU2|protein_coding|CODING|NM_001164384.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val160Met/c.478G>A|473|STAU2|protein_coding|CODING|NM_001164385.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val166Met/c.496G>A|479|STAU2|protein_coding|CODING|NM_014393.2|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8262,0.7867,0.9175,0.89,0.82,0.92,,0.015732(N),0.492(P),"-0.04,-0.04,1.51,-0.03,-0.04,-0.04,-0.04,-0.04,-0.04,1.51,-0.04(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.079,1.578663,5.67,1.91,-0.254000,0.150000,-0.181000,0.927000,0.980000,0.138000,1.8597
missense_variant,LY96,MISSENSE,NM_015364.4:p.Arg56Gly/c.166A>G,Aga/Gga,MODERATE,,0.990016,1,rs6472812,0.84(T),0.0(B),-2.4(N),-0.9991(T),,chr8,74917084,74917084,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg56Gly/c.166A>G|160|LY96|protein_coding|CODING|NM_015364.4|2|1),intron_variant(MODIFIER|||c.113-5152A>G|130|LY96|protein_coding|CODING|NM_001195797.1|1|1)",,,,,0.9775,0.9899,0.9801,0.97,0.99,0.96,,0.217688(N),1.000(P),1.64(T),0.0000(T),0.064,-1.291821,5.2,3.26,-0.128000,0.788000,0.711000,0.001000,0.015000,0.043000,6.118
synonymous_variant,GDAP1,SILENT,NM_018972.2:p.Ser34Ser/c.102G>C,tcG/tcC,LOW,COSM4163063(1),0.995607,1,rs7828201,,,,,,chr8,75262798,75262798,G,C,hom,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser34Ser/c.102G>C|358|GDAP1|protein_coding|CODING|NM_018972.2|1|1),intron_variant(MODIFIER|||c.-64+91G>C|290|GDAP1|protein_coding|CODING|NM_001040875.2|1|1),non_coding_exon_variant(MODIFIER|||n.181G>C||GDAP1||CODING|NR_046346.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,CD4:H2BK20ac,HepG2:Nrsf,GM12878:ETS1,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,H1ESC:Yy1,HeLa-S3:H3K27ac,HepG2:HNF4A,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,HeLa-S3:Nrsf,HepG2:H3K9ac,CD4:PolII,H1ESC:Nrsf,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,H1ESC:Sin3Ak20,K562:Nrsf,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.9775,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,GDAP1,SILENT,NM_018972.2:p.Ser169Ser/c.507T>G,tcT/tcG,LOW,COSM3763403(3),0.219249,0.3026,rs11554166,,,,,,chr8,75274141,75274141,T,G,het,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser101Ser/c.303T>G|290|GDAP1|protein_coding|CODING|NM_001040875.2|4|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser169Ser/c.507T>G|358|GDAP1|protein_coding|CODING|NM_018972.2|4|1),non_coding_exon_variant(MODIFIER|||n.441T>G||GDAP1||CODING|NR_046346.1|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1912,0.1787,0.3569,0.25,0.13,0.32,,,,,,,,,,,,,,,,
synonymous_variant,ZFHX4,SILENT,NM_024721.4:p.His1071His/c.3213T>C,caT/caC,LOW,,0.334864,0.3929,rs16939357,,,,,,chr8,77690563,77690563,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His1071His/c.3213T>C|3616|ZFHX4|protein_coding|CODING|NM_024721.4|4|1),"NH-A:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,IMR90:H3K27ac",,,,0.1769,0.2147,0.167,0.28,0.53,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ZFHX4,SILENT,NM_024721.4:p.Ser1129Ser/c.3387G>A,tcG/tcA,LOW,,0.608027,0.6478,rs2733733,,,,,,chr8,77745635,77745635,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1129Ser/c.3387G>A|3616|ZFHX4|protein_coding|CODING|NM_024721.4|5|1),"NH-A:H3K36me3,HSMM:H3K36me3",,,,0.501,0.5,0.4493,0.56,0.77,0.46,,,,,,,,,,,,,,,,
missense_variant,PEX2,MISSENSE,NM_000318.2:p.Cys184Arg/c.550T>C,Tgt/Cgt,MODERATE,,0.996206,1,rs10087163,1(T),0.0(B),-2.895(N),-0.9334(T),,chr8,77895865,77895865,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys184Arg/c.550T>C|305|PEX2|protein_coding|CODING|NM_000318.2|4|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys184Arg/c.550T>C|305|PEX2|protein_coding|CODING|NM_001079867.1|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys184Arg/c.550T>C|305|PEX2|protein_coding|CODING|NM_001172086.1|5|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys184Arg/c.550T>C|305|PEX2|protein_coding|CODING|NM_001172087.1|3|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9986,0.9831,0.99,1.00,0.99,,0.000000(N),0.177(P),"-1.47,-1.47,-1.47,-1.47(T,T,T,T)",0.0000(T),0.398,-0.840233,5.36,3.59,-0.213000,0.429000,6.173000,0.906000,0.170000,1.000000,10.8185
synonymous_variant,ZC2HC1A,SILENT,NM_016010.2:p.Leu222Leu/c.666A>G,ttA/ttG,LOW,COSM1569545(2),0.717252,0.8978,rs1054283,,,,-1.0448(T),,chr8,79610710,79610710,A,G,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu222Leu/c.666A>G|325|ZC2HC1A|protein_coding|CODING|NM_016010.2|7|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.772,0.7968,0.7157,0.67,0.54,0.73,,,0.000(P),,0.0000(T),.,0.432414,5.85,2.0,-0.379000,0.096000,0.371000,0.666000,0.996000,0.992000,5.4563
synonymous_variant,PAG1,SILENT,NM_018440.3:p.Ser229Ser/c.687G>A,tcG/tcA,LOW,,0.140575,0.001,rs7006101,,,,,,chr8,81897200,81897200,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser229Ser/c.687G>A|432|PAG1|protein_coding|CODING|NM_018440.3|7|1),"GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1605,0.0865,0.1083,0.15,0.25,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PAG1,SILENT,NM_018440.3:p.Ala22Ala/c.66T>C,gcT/gcC,LOW,,0.523962,0.5268,rs2016465,,,,,,chr8,81905397,81905397,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala22Ala/c.66T>C|432|PAG1|protein_coding|CODING|NM_018440.3|4|1),"GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3",,,,0.4335,0.3156,0.326,0.46,0.74,0.32,,,,,,,,,,,,,,,,
synonymous_variant,PMP2,SILENT,NM_002677.3:p.Glu62Glu/c.186A>G,gaA/gaG,LOW,COSM3763425(1),0.351438,0.748,rs2229015,,,,,,chr8,82357112,82357112,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu62Glu/c.186A>G|132|PMP2|protein_coding|CODING|NM_002677.3|2|1),,,,,0.1677,0.3285,0.1412,0.22,0.33,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SLC10A5,SILENT,NM_001010893.2:p.Asn142Asn/c.426T>C,aaT/aaC,LOW,,0.441294,0.129,rs2955006,,,,,,chr8,82606782,82606782,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn142Asn/c.426T>C|438|SLC10A5|protein_coding|CODING|NM_001010893.2|1|1),"HepG2:H3K4me2,HepG2:H3K27ac,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.6339,0.6037,0.5934,0.53,0.39,0.60,,,,,,,,,,,,,,,,
missense_variant,E2F5,MISSENSE,NM_001951.3:p.Gly18Ala/c.53G>C,gGg/gCg,MODERATE,,0.028754,0,rs4150841,0.94(T),"0.001,0.0(B,B)",0(N),-0.9559(T),,chr8,86089708,86089708,G,C,het,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly18Ala/c.53G>C|345|E2F5|protein_coding|CODING|NM_001083588.1|1|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly18Ala/c.53G>C|346|E2F5|protein_coding|CODING|NM_001951.3|1|1)","K562:ZBTB7A,H1ESC:PolII,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,HeLa-S3:E2F6",,,,0.0112,0.0317,0.0378,,,,,0.375907(U),1.000(N),"3.58,3.58,3.58(T,T,T)",0.0083(T),0.121,-0.812238,2.91,0.778,0.313000,-0.049000,0.961000,0.444000,0.072000,1.000000,9.0665
synonymous_variant,E2F5,SILENT,NM_001951.3:p.Ala44Ala/c.132C>G,gcC/gcG,LOW,COSM3763429(4),0.562101,0.4157,rs12926,,,,,,chr8,86089787,86089787,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala44Ala/c.132C>G|345|E2F5|protein_coding|CODING|NM_001083588.1|1|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala44Ala/c.132C>G|346|E2F5|protein_coding|CODING|NM_001951.3|1|1)","K562:ZBTB7A,H1ESC:PolII,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.5982,0.549,0.6928,0.67,0.61,0.70,,,,,,,,,,,,,,,,
missense_variant,PSKH2,MISSENSE,NM_033126.1:p.Ala176Ser/c.526G>T,Gcg/Tcg,MODERATE,COSM150503(4),0.295727,0.4415,rs6998760,1(T),0.002(B),-0.725(N),-0.9345(T),,chr8,87076520,87076520,C,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala176Ser/c.526G>T|385|PSKH2|protein_coding|CODING|NM_033126.1|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.3528,0.2911,0.3698,0.28,0.12,0.36,,,1.000(P),1.31(T),0.0000(T),0.032,-2.272117,5.69,-3.35,-1.910000,-0.517000,0.430000,0.005000,0.000000,0.357000,12.4195
missense_variant,SLC7A13,MISSENSE,NM_138817.2:p.Val249Met/c.745G>A,Gtg/Atg,MODERATE,,0.0958466,0.0179,rs2976189,0(D),"0.997,0.998(D,D)",3.385(M),-0.7760(T),,chr8,87235273,87235273,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val249Met/c.745G>A|470|SLC7A13|protein_coding|CODING|NM_138817.2|2|1),,,,,0.092,0.0749,0.1491,0.15,0.14,0.15,,0.002240(N),1.000(P),"-2.89,-2.89(D,D)",0.0283(T),0.228,2.925452,4.36,2.49,-0.182000,1.038000,0.698000,0.348000,0.085000,0.697000,7.8039
missense_variant,CNGB3,MISSENSE,NM_019098.4:p.Thr298Pro/c.892A>C,Aca/Cca,MODERATE,,0.679712,0.7827,rs4961206,0.36(T),"0.012,0.012(B,B)",1.125(L),-0.9696(T),,chr8,87666251,87666251,T,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr298Pro/c.892A>C|809|CNGB3|protein_coding|CODING|NM_019098.4|7|1),HUVEC:H3K27me3,,RCV000081979.1,,0.7699,0.5706,0.6451,0.64,0.63,0.65,,0.037941(N),0.958(P),0.71(T),0.0000(T),0.245,1.515835,5.38,4.23,0.454000,2.035000,1.787000,0.970000,1.000000,1.000000,5.5857
missense_variant,CNGB3,MISSENSE,NM_019098.4:p.Cys234Trp/c.702T>G,tgT/tgG,MODERATE,,0.957468,0.999,rs6471482,1(T),"0.0,0.0(B,B)",-2.865(N),-0.9383(T),,chr8,87679303,87679303,A,C,hom,missense_variant(MODERATE|MISSENSE|tgT/tgG|p.Cys234Trp/c.702T>G|809|CNGB3|protein_coding|CODING|NM_019098.4|6|1),,,,,0.9836,0.9294,0.8608,0.88,0.97,0.83,,0.000000(N),0.002(P),2.98(T),0.0000(T),0.2,0.715903,5.55,5.55,-0.121000,1.359000,4.933000,0.816000,0.982000,1.000000,15.9847
synonymous_variant,NBN,SILENT,NM_002485.4:p.Pro672Pro/c.2016A>G,ccA/ccG,LOW,COSM3763441(1),0.352835,0.4673,rs1061302,,,,,,chr8,90958422,90958422,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro672Pro/c.2016A>G|754|NBN|protein_coding|CODING|NM_002485.4|13|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4519,0.3761,0.3062,0.28,0.23,0.31,,,,,,,,,,,,,,,,
synonymous_variant,NBN,SILENT,NM_002485.4:p.Asp399Asp/c.1197T>C,gaT/gaC,LOW,COSM3763442(1),0.608626,0.6647,rs709816,,,,,,chr8,90967711,90967711,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp399Asp/c.1197T>C|754|NBN|protein_coding|CODING|NM_002485.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5337,0.5548,0.341,0.49,0.75,0.36,,,,,,,,,,,,,,,,
missense_variant,NBN,MISSENSE,NM_002485.4:p.Glu185Gln/c.553G>C,Gag/Cag,MODERATE,,0.357029,0.4673,rs1805794,1(T),0.001(B),-0.855(N),-0.9605(T),,chr8,90990479,90990479,C,G,hom,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu185Gln/c.553G>C|754|NBN|protein_coding|CODING|NM_002485.4|5|1),"NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.453,0.3761,0.3062,0.29,0.23,0.31,,0.000243(N),1.000(P),"0.43,0.51,-0.55(T,T,T)",0.0000(T),0.106,-0.040880,5.96,3.08,-0.120000,0.091000,2.133000,0.986000,0.999000,1.000000,13.9393
synonymous_variant,NBN,SILENT,NM_002485.4:p.Leu34Leu/c.102G>A,ctG/ctA,LOW,COSM3763444(1),0.379193,0.4673,rs1063045,,,,,,chr8,90995019,90995019,C,T,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu34Leu/c.102G>A|754|NBN|protein_coding|CODING|NM_002485.4|2|1),"K562:H3K4me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,GM12878:H3K79me2,GM06990:H3K4me3,HUVEC:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,GM12878:H3K9ac,K562:H3K4me2",,,,0.4519,0.3818,0.3062,0.31,0.31,0.31,,,,,,,,,,,,,,,,
synonymous_variant,SLC26A7,SILENT,NM_134266.1:p.Leu401Leu/c.1203T>C,ctT/ctC,LOW,COSM3763449(1),0.221046,0.0357,rs10109254,,,,,,chr8,92364100,92364100,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu401Leu/c.1203T>C|656|SLC26A7|protein_coding|CODING|NM_001282356.1|11|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu100Leu/c.300T>C|355|SLC26A7|protein_coding|CODING|NM_001282357.1|10|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu401Leu/c.1203T>C|656|SLC26A7|protein_coding|CODING|NM_052832.3|10|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu401Leu/c.1203T>C|663|SLC26A7|protein_coding|CODING|NM_134266.1|10|1)",NHEK:H3K27me3,,,,0.2137,0.2233,0.2823,0.30,0.31,0.30,,,,,,,,,,,,,,,,
missense_variant,FAM92A1,MISSENSE,NM_145269.4:p.Arg222Gln/c.665G>A,cGa/cAa,MODERATE,,0.0623003,0,rs36117362,0.08(T),,2.135(M),-1.1491(T),,chr8,94738629,94738629,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg184Gln/c.551G>A|251|FAM92A1|protein_coding|CODING|NM_001283034.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg222Gln/c.665G>A|289|FAM92A1|protein_coding|CODING|NM_145269.4|7|1),non_coding_exon_variant(MODIFIER|||n.806G>A||FAM92A1||CODING|NR_104267.1|7|1),non_coding_exon_variant(MODIFIER|||n.892G>A||FAM92A1||CODING|NR_104268.1|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0501,0.1037,0.1252,0.10,0.05,0.12,,,1.000(D),,0.0011(T),.,3.490072,5.5,5.5,0.650000,2.732000,7.835000,0.968000,1.000000,1.000000,19.7622
missense_variant,TMEM67,MISSENSE,NM_001142301.1:p.Pro36Leu/c.107C>T,cCg/cTg,MODERATE,,0.0365415,0,rs73324992,0.04(D),0.0(B),0(N),-0.7114(T),,chr8,94772165,94772165,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro36Leu/c.107C>T|914|TMEM67|protein_coding|CODING|NM_001142301.1|4|1),intron_variant(MODIFIER|||c.406+1361C>T|995|TMEM67|protein_coding|CODING|NM_153704.5|3|1),intron_variant(MODIFIER|||n.477+1361C>T||TMEM67||CODING|NR_024522.1|3|1)",,,RCV000114248.2,,0.0184,0.0274,0.0149,0.04,0.10,0.02,,,1.000(N),-4.21(D),0.0496(T),0.02,-1.381142,0.225,-0.451,-1.842000,-1.864000,-3.624000,0.001000,0.001000,0.000000,.
missense_variant,TMEM67,MISSENSE,NM_153704.5:p.Ile604Val/c.1810A>G,Att/Gtt,MODERATE,COSM3763454(1),0.692891,0.7331,rs3134031,0.34(T),"0.0,0.0(B,B)",-0.755(N),-0.9469(T),,chr8,94808165,94808165,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile523Val/c.1567A>G|914|TMEM67|protein_coding|CODING|NM_001142301.1|19|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile604Val/c.1810A>G|995|TMEM67|protein_coding|CODING|NM_153704.5|18|1),non_coding_exon_variant(MODIFIER|||n.1881A>G||TMEM67||CODING|NR_024522.1|18|1)",HMEC:H3K36me3,,RCV000114244.2,,0.6564,0.67,0.6123,0.64,0.73,0.59,,0.636126(N),1.000(P),"-3.99,-3.99(D,D)",0.0000(T),0.041,0.113230,5.28,0.316,-0.226000,-0.410000,0.357000,0.827000,0.000000,0.000000,4.9721
missense_variant,CDH17,MISSENSE,NM_001144663.1:p.Glu739Ala/c.2216A>C,gAg/gCg,MODERATE,,0.442692,0.5327,rs1051624,0.75(T),"0.101,0.001(B,B)",1.28(L),-0.9336(T),,chr8,95143172,95143172,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu739Ala/c.2216A>C|832|CDH17|protein_coding|CODING|NM_001144663.1|16|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu739Ala/c.2216A>C|832|CDH17|protein_coding|CODING|NM_004063.3|16|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.4755,0.3948,0.5736,0.47,0.31,0.56,,0.406534(N),1.000(P),"1.13,1.13,1.13(T,T,T)",0.0000(T),0.085,-1.614376,5.67,0.449,-0.691000,-0.143000,0.256000,0.001000,0.001000,0.021000,3.3153
missense_variant,CDH17,MISSENSE,NM_001144663.1:p.Glu734Asp/c.2202G>C,gaG/gaC,MODERATE,COSM3763457(1),0.783946,0.6925,rs1051623,0.9(T),"0.001,0.0(B,B)",-1.1(N),-0.9823(T),,chr8,95143186,95143186,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu734Asp/c.2202G>C|832|CDH17|protein_coding|CODING|NM_001144663.1|16|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu734Asp/c.2202G>C|832|CDH17|protein_coding|CODING|NM_004063.3|16|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.7618,0.781,0.8171,0.83,0.85,0.83,,0.634292(N),1.000(P),"0.47,0.45,0.47(T,T,T)",0.0000(T),0.029,-1.589036,5.67,2.43,-0.352000,0.340000,0.910000,0.052000,0.370000,0.808000,5.8288
synonymous_variant,CDH17,SILENT,NM_001144663.1:p.Leu647Leu/c.1941G>A,ttG/ttA,LOW,,0.43151,0.5327,rs1131830,,,,,,chr8,95158382,95158382,C,T,hom,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu647Leu/c.1941G>A|832|CDH17|protein_coding|CODING|NM_001144663.1|15|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu647Leu/c.1941G>A|832|CDH17|protein_coding|CODING|NM_004063.3|15|1)","HUVEC:H3K27me3,IMR90:H3K27ac",,,,0.4703,0.3761,0.5457,0.46,0.30,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CDH17,SILENT,NM_001144663.1:p.Val177Val/c.531C>T,gtC/gtT,LOW,COSM150505(2),0.345847,0.3165,rs3214050,,,,,,chr8,95186382,95186382,G,A,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val177Val/c.531C>T|832|CDH17|protein_coding|CODING|NM_001144663.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val177Val/c.531C>T|832|CDH17|protein_coding|CODING|NM_004063.3|6|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.4826,0.281,0.4384,0.39,0.24,0.47,,,,,,,,,,,,,,,,
missense_variant,CDH17,MISSENSE,NM_001144663.1:p.Lys115Glu/c.343A>G,Aaa/Gaa,MODERATE,,0.802316,0.6359,rs2243518,0.68(T),"0.001,0.0(B,B)",-0.285(N),-0.9602(T),,chr8,95188850,95188850,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys115Glu/c.343A>G|832|CDH17|protein_coding|CODING|NM_001144663.1|5|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys115Glu/c.343A>G|832|CDH17|protein_coding|CODING|NM_004063.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3",,,,0.817,0.7752,0.7753,0.83,0.92,0.79,,0.000038(N),0.996(P),"0.15,4.67,0.15,0.7(T,T,T,T)",0.0000(T),0.377,0.481388,5.93,4.12,-0.119000,1.546000,0.537000,0.952000,1.000000,0.954000,4.3334
synonymous_variant,RAD54B,SILENT,NM_012415.3:p.Asn250Asn/c.750T>C,aaT/aaC,LOW,COSM3763459(1),0.418131,0.4663,rs2291439,,,,,,chr8,95419698,95419698,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn66Asn/c.198T>C|726|RAD54B|protein_coding|CODING|NM_001205263.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn250Asn/c.750T>C|910|RAD54B|protein_coding|CODING|NM_012415.3|5|1)",,,,,0.4162,0.536,0.3777,0.36,0.35,0.37,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1429,SILENT,NM_015496.4:p.Gly292Gly/c.876T>C,ggT/ggC,LOW,COSM3763461(2),0.353035,0.4861,rs957448,,,,,,chr8,95541302,95541302,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly292Gly/c.876T>C|1812|KIAA1429|protein_coding|CODING|NM_015496.4|7|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly292Gly/c.876T>C|1147|KIAA1429|protein_coding|CODING|NM_183009.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.3088,0.438,0.3101,0.26,0.28,0.25,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1429,SILENT,NM_015496.4:p.Arg269Arg/c.807A>T,cgA/cgT,LOW,,0.702077,0.8056,rs957446,,,,,,chr8,95541371,95541371,T,A,het,"synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg269Arg/c.807A>T|1812|KIAA1429|protein_coding|CODING|NM_015496.4|7|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg269Arg/c.807A>T|1147|KIAA1429|protein_coding|CODING|NM_183009.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.771,0.7435,0.5636,0.58,0.63,0.55,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1429,SILENT,NM_015496.4:p.Pro144Pro/c.432A>C,ccA/ccC,LOW,,0.34345,0.5089,rs2304764,,,,,,chr8,95547119,95547119,T,G,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro144Pro/c.432A>C|1812|KIAA1429|protein_coding|CODING|NM_015496.4|5|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro144Pro/c.432A>C|1147|KIAA1429|protein_coding|CODING|NM_183009.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.317,0.4452,0.334,0.22,0.18,0.24,,,,,,,,,,,,,,,,
synonymous_variant,ESRP1,SILENT,NM_017697.3:p.Asn600Asn/c.1800T>C,aaT/aaC,LOW,COSM3982620(2),0.492412,0.5407,rs12677519,,,,,,chr8,95690579,95690579,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn596Asn/c.1788T>C|677|ESRP1|protein_coding|CODING|NM_001034915.2|13|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn600Asn/c.1800T>C|608|ESRP1|protein_coding|CODING|NM_001122825.1|13|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn596Asn/c.1788T>C|659|ESRP1|protein_coding|CODING|NM_001122826.1|13|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn596Asn/c.1788T>C|604|ESRP1|protein_coding|CODING|NM_001122827.1|13|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn600Asn/c.1800T>C|681|ESRP1|protein_coding|CODING|NM_017697.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.6861,0.5346,0.6223,0.49,0.27,0.60,,,,,,,,,,,,,,,,
synonymous_variant,INTS8,SILENT,NM_017864.3:p.Ser710Ser/c.2130T>C,agT/agC,LOW,,0.566693,0.6607,rs713113,,,,-0.9169(T),,chr8,95877787,95877787,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser710Ser/c.2130T>C|995|INTS8|protein_coding|CODING|NM_017864.3|17|1),non_coding_exon_variant(MODIFIER|||n.2241T>C||INTS8||CODING|NR_073445.1|17|1),non_coding_exon_variant(MODIFIER|||n.2272T>C||INTS8||CODING|NR_073444.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6155,0.6182,0.5388,0.51,0.49,0.51,,,0.000(P),,0.0000(T),.,1.278450,4.97,3.81,0.383000,1.989000,0.095000,0.993000,1.000000,0.976000,6.4301
synonymous_variant,INTS8,SILENT,NM_017864.3:p.Ala898Ala/c.2694C>T,gcC/gcT,LOW,COSM3763465(2),0.470048,0.6528,rs1129152,,,,-0.9549(T),,chr8,95888307,95888307,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala898Ala/c.2694C>T|995|INTS8|protein_coding|CODING|NM_017864.3|24|1),non_coding_exon_variant(MODIFIER|||n.3010C>T||INTS8||CODING|NR_073444.1|26|1),non_coding_exon_variant(MODIFIER|||n.2927C>T||INTS8||CODING|NR_073445.1|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.5288,0.4573,0.37,0.27,0.41,,,0.000(P),,0.0000(T),.,0.917867,5.67,3.32,-0.467000,0.526000,-0.005000,0.984000,1.000000,0.840000,3.4379
synonymous_variant,UQCRB,SILENT,NM_001254752.1:p.His94His/c.282C>T,caC/caT,LOW,,0.233427,0.1806,rs2292835,,,,,,chr8,97243720,97243720,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His94His/c.282C>T|140|UQCRB|protein_coding|CODING|NM_001254752.1|4|1),intron_variant(MODIFIER|||c.162+282C>T|79|UQCRB|protein_coding|CODING|NM_001199975.2|4|1),intron_variant(MODIFIER|||c.258+282C>T|111|UQCRB|protein_coding|CODING|NM_006294.4|3|1),non_coding_exon_variant(MODIFIER|||n.386C>T||UQCRB||CODING|NR_045639.1|4|1)","H1ESC:H3K36me3,GM12878:BATF,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM12878:Jund,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1",,,,0.2883,0.2594,0.3588,,,,,,,,,,,,,,,,,,,
synonymous_variant,SDC2,SILENT,NM_002998.3:p.Tyr51Tyr/c.153C>T,taC/taT,LOW,COSM150508(3),0.226038,0.3591,rs1126681,,,,,,chr8,97605800,97605800,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr51Tyr/c.153C>T|201|SDC2|protein_coding|CODING|NM_002998.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.3783,0.1628,0.2217,0.17,0.08,0.22,,,,,,,,,,,,,,,,
synonymous_variant,CPQ,SILENT,NM_016134.3:p.Val197Val/c.591G>T,gtG/gtT,LOW,,0.609225,0.8829,rs1864384,,,,,,chr8,97847358,97847358,G,T,hom,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val197Val/c.591G>T|472|CPQ|protein_coding|CODING|NM_016134.3|3|1),HepG2:H3K36me3,,,,0.6881,0.6556,0.6093,0.56,0.40,0.65,,,,,,,,,,,,,,,,
synonymous_variant,TSPYL5,SILENT,NM_033512.2:p.Pro29Pro/c.87G>A,ccG/ccA,LOW,COSM3750140(9),0.583866,0.6339,rs28669903,,,,,,chr8,98289986,98289986,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro29Pro/c.87G>A|417|TSPYL5|protein_coding|CODING|NM_033512.2|1|1),intron_variant(MODIFIER|||n.471+141312G>A||LOC101927066||NON_CODING|NR_125390.1|2|1)","NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6984,0.6599,0.6312,0.59,0.43,0.67,,,,,,,,,,,,,,,,
synonymous_variant,MTDH,SILENT,NM_178812.3:p.Lys451Lys/c.1353G>A,aaG/aaA,LOW,COSM150510(1),0.107628,0.2411,rs2331652,,,,,,chr8,98725970,98725970,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys451Lys/c.1353G>A|582|MTDH|protein_coding|CODING|NM_178812.3|9|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1421,0.1931,0.0199,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,LAPTM4B,SILENT,NM_018407.4:p.Pro10Pro/c.30A>G,ccA/ccG,LOW,COSM3763467(4),0.777356,0.7728,rs2449510,,,,,,chr8,98787994,98787994,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro10Pro/c.30A>G|317|LAPTM4B|protein_coding|CODING|NM_018407.4|1|1),"H1ESC:PolII,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,CD4:DNase1,HUVEC:PolII,K562:TFIIIC-110,IMR90:DNase1,H1ESC:DNase1,HepG2:USF1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:USF1,HSMM:DNase1,NH-A:DNase1,K562:E2F6,K562:Cjun,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,HeLa-S3:E2F6,K562:Jund",,,,0.7403,0.6671,0.6382,,,,,,,,,,,,,,,,,,,
synonymous_variant,LAPTM4B,SILENT,NM_018407.4:p.Ala23Ala/c.69G>C,gcG/gcC,LOW,COSM3763468(2),0.733427,0.75,rs2449509,,,,,,chr8,98788033,98788033,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala23Ala/c.69G>C|317|LAPTM4B|protein_coding|CODING|NM_018407.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,K562:E2F6,K562:Cjun,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,HeLa-S3:E2F6,K562:Jund",,,,0.7168,0.6556,0.6372,0.69,0.83,0.63,,,,,,,,,,,,,,,,
synonymous_variant,MATN2,SILENT,NM_002380.3:p.His240His/c.720T>C,caT/caC,LOW,,0.972843,0.9315,rs2513845,,,,-1.0054(T),,chr8,98954012,98954012,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His240His/c.720T>C|956|MATN2|protein_coding|CODING|NM_002380.3|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His240His/c.720T>C|937|MATN2|protein_coding|CODING|NM_030583.2|4|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.9888,0.9784,0.994,0.99,0.98,1.00,,,0.000(P),,0.0000(T),.,0.545203,5.14,3.06,-0.215000,0.583000,0.963000,0.697000,1.000000,0.999000,7.1176
synonymous_variant,MATN2,SILENT,NM_002380.3:p.Ser272Ser/c.816G>T,tcG/tcT,LOW,,0.111222,0.1042,rs35407519,,,,,,chr8,98954108,98954108,G,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser272Ser/c.816G>T|956|MATN2|protein_coding|CODING|NM_002380.3|4|1),synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser272Ser/c.816G>T|937|MATN2|protein_coding|CODING|NM_030583.2|4|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1779,0.2493,0.0915,0.08,0.03,0.10,,,0.000(P),,,.,0.620463,5.24,-0.969,-1.134000,-0.244000,0.050000,0.908000,0.927000,0.797000,3.0914
synonymous_variant,MATN2,SILENT,NM_002380.3:p.Lys356Lys/c.1068A>G,aaA/aaG,LOW,,0.247604,0.1667,rs1869608,0.26(T),,,-1.1682(T),,chr8,98991223,98991223,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys356Lys/c.1068A>G|956|MATN2|protein_coding|CODING|NM_002380.3|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys356Lys/c.1068A>G|937|MATN2|protein_coding|CODING|NM_030583.2|6|1)","GM12878:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3",,,,0.2843,0.3156,0.1322,0.20,0.28,0.17,,0.044079(N),0.000(P),"-4.03,-4.03(D,D)",0.0000(T),.,0.267698,5.49,-1.46,0.533000,-0.503000,0.039000,0.578000,0.136000,0.023000,10.083
synonymous_variant,MATN2,SILENT,NM_002380.3:p.Cys387Cys/c.1161C>T,tgC/tgT,LOW,,0.11222,0.129,rs16896514,,,,-1.0768(T),,chr8,99006787,99006787,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys387Cys/c.1161C>T|956|MATN2|protein_coding|CODING|NM_002380.3|7|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys387Cys/c.1161C>T|937|MATN2|protein_coding|CODING|NM_030583.2|7|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1728,0.2392,0.0934,0.08,0.03,0.11,,,0.000(P),,0.0006(T),.,0.977291,5.73,3.95,-0.373000,0.785000,4.627000,0.886000,1.000000,1.000000,9.7785
synonymous_variant,MATN2,SILENT,NM_002380.3:p.Asp585Asp/c.1755T>C,gaT/gaC,LOW,,0.654752,0.4325,rs2248014,,,,,,chr8,99030280,99030280,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp585Asp/c.1755T>C|956|MATN2|protein_coding|CODING|NM_002380.3|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp585Asp/c.1755T>C|937|MATN2|protein_coding|CODING|NM_030583.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.5061,0.7435,0.7167,0.79,0.84,0.76,,,1.000(P),,,.,-1.059806,5.2,-7.86,-0.815000,-1.622000,-5.375000,0.035000,0.000000,0.000000,2.1545
synonymous_variant,HRSP12,SILENT,NM_005836.2:p.Thr134Thr/c.402G>A,acG/acA,LOW,,0.0615016,0.001,rs11537947,,,,-1.0346(T),,chr8,99115082,99115082,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr134Thr/c.402G>A|137|HRSP12|protein_coding|CODING|NM_005836.2|6|1),"HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0429,0.0648,0.1034,0.08,0.07,0.08,,,1.000(P),,0.0017(T),.,0.195374,5.49,-0.158,-0.254000,-0.121000,-0.269000,0.154000,0.000000,0.001000,1.1412
missense_variant,POP1,MISSENSE,NM_001145860.1:p.Lys522Asn/c.1566A>C,aaA/aaC,MODERATE,,0.102835,0.001,rs17184326,0.06(T),0.221(B),2.415(M),-1.0428(T),,chr8,99153088,99153088,A,C,het,"missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys522Asn/c.1566A>C|1024|POP1|protein_coding|CODING|NM_001145860.1|11|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys522Asn/c.1566A>C|1024|POP1|protein_coding|CODING|NM_001145861.1|11|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys522Asn/c.1566A>C|1024|POP1|protein_coding|CODING|NM_015029.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.093,0.0951,0.1392,0.15,0.18,0.14,,0.001052(N),0.073(P),"0.92,0.92(T,T)",0.0003(T),0.025,3.244265,5.59,4.23,0.529000,2.127000,5.790000,0.922000,0.779000,1.000000,9.0274
splice_donor_variant,NIPAL2,protein_coding,NM_024759.1:c.1068G>A,,HIGH,COSM3763471(1),0.582668,0.5893,rs3735887,,,,,NIPAL2:1.00(1);,chr8,99205612,99205612,C,T,hom,"splice_donor_variant(HIGH|||c.1068G>A|368|NIPAL2|protein_coding|CODING|NM_024759.1|11|1),intron_variant(MODIFIER|||c.1067+1G>A|368|NIPAL2|protein_coding|CODING|NM_024759.1|11|1)","NHEK:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.6677,0.6427,0.5,0.51,0.52,0.51,,,0.997(P),,,.,1.351666,4.8,3.65,-0.360000,0.402000,1.145000,0.010000,0.004000,0.017000,6.7832
synonymous_variant,NIPAL2,SILENT,NM_024759.1:p.Thr308Thr/c.924T>G,acT/acG,LOW,COSM3763472(1),0.407348,0.4325,rs3779721,,,,,,chr8,99208190,99208190,A,C,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr308Thr/c.924T>G|368|NIPAL2|protein_coding|CODING|NM_024759.1|9|1),,,,,0.5297,0.4841,0.3479,0.34,0.31,0.36,,,,,,,,,,,,,,,,
stop_gained,VPS13B,NONSENSE,NM_181661.2:p.Tyr413*/c.1239T>G,taT/taG,HIGH,,0.705072,0.5337,rs7460625,,,,,,chr8,100133706,100133706,T,G,hom,"stop_gained(HIGH|NONSENSE|taT/taG|p.Tyr413*/c.1239T>G|415|VPS13B|protein_coding|CODING|NM_181661.2|8|1),intron_variant(MODIFIER|||c.1206+33T>G|863|VPS13B|protein_coding|CODING|NM_015243.2|8|1),intron_variant(MODIFIER|||c.1206+33T>G|4022|VPS13B|protein_coding|CODING|NM_017890.4|8|1),intron_variant(MODIFIER|||c.1206+33T>G|3997|VPS13B|protein_coding|CODING|NM_152564.4|8|1),non_coding_exon_variant(MODIFIER|||n.1465T>G||VPS13B||CODING|NR_047582.1|9|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8773,0.5807,0.7903,0.76,0.68,0.79,,,1.000(P),,,.,2.693883,5.66,3.32,-1.113000,0.119000,0.041000,0.002000,0.000000,0.000000,4.265
stop_gained,VPS13B,NONSENSE,NM_017890.4:p.Arg3752*/c.11254C>T,Cga/Tga,HIGH,,,,,0.52(T),,,,VPS13B:0.40(5);VPS13B:0.40(5);,chr8,100874138,100874138,C,T,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg3752*/c.11254C>T|4022|VPS13B|protein_coding|CODING|NM_017890.4|58|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg3727*/c.11179C>T|3997|VPS13B|protein_coding|CODING|NM_152564.4|58|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000001(D),1.000(D),,,.,21.271682,5.79,5.79,0.655000,2.733000,2.036000,0.964000,0.999000,0.994000,13.9454
synonymous_variant,FBXO43,SILENT,NM_001029860.3:p.Ile486Ile/c.1458C>T,atC/atT,LOW,,0.658147,0.7292,rs1460934,,,,,,chr8,101153024,101153024,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile486Ile/c.1458C>T|708|FBXO43|protein_coding|CODING|NM_001029860.3|2|1),non_coding_exon_variant(MODIFIER|||n.2238C>T||FBXO43||CODING|NR_036491.1|2|1)","GM12878:H3K36me3,HepG2:H3K36me3",,,,0.5665,0.6888,0.5557,0.59,0.70,0.55,,,,,,,,,,,,,,,,
synonymous_variant,SPAG1,SILENT,NM_003114.4:p.Ala446Ala/c.1338C>G,gcC/gcG,LOW,COSM3750057(6),0.342053,0.5228,rs2514681,,,,,,chr8,101225559,101225559,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala446Ala/c.1338C>G|926|SPAG1|protein_coding|CODING|NM_003114.4|11|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala446Ala/c.1338C>G|926|SPAG1|protein_coding|CODING|NM_172218.2|11|1)","NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.2996,0.4092,0.3608,,,,,,,,,,,,,,,,,,,
missense_variant,SPAG1,MISSENSE,NM_003114.4:p.Met777Thr/c.2330T>C,aTg/aCg,MODERATE,COSM150515(3),0.627396,0.5327,rs6511,0.89(T),0.0(B),-1.355(N),-0.9936(T),,chr8,101252680,101252680,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met777Thr/c.2330T>C|926|SPAG1|protein_coding|CODING|NM_003114.4|18|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met777Thr/c.2330T>C|926|SPAG1|protein_coding|CODING|NM_172218.2|18|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5429,0.7233,0.6193,0.64,0.69,0.61,,0.189258(N),1.000(P),"0.26,0.26(T,T)",0.0000(T),0.003,-1.186039,5.77,-3.7,-0.215000,-1.149000,-0.164000,0.007000,0.000000,0.000000,4.5629
synonymous_variant,SPAG1,SILENT,NM_003114.4:p.Ser905Ser/c.2715G>A,tcG/tcA,LOW,COSM3762954(1),0.299121,0.5149,rs1788190,,,,,,chr8,101253184,101253184,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser905Ser/c.2715G>A|926|SPAG1|protein_coding|CODING|NM_003114.4|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser905Ser/c.2715G>A|926|SPAG1|protein_coding|CODING|NM_172218.2|19|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3006,0.3991,0.3688,0.27,0.09,0.37,,,,,,,,,,,,,,,,
missense_variant,SNX31,MISSENSE,NM_152628.3:p.Asp428Gly/c.1283A>G,gAt/gGt,MODERATE,COSM453749(2),0.411941,0.2778,rs2022923,0.64(T),"0.001,0.0(B,B)",-0.69(N),-0.9757(T),,chr8,101586133,101586133,T,C,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp428Gly/c.1283A>G|440|SNX31|protein_coding|CODING|NM_152628.3|14|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.3671,0.3689,0.4364,0.46,0.53,0.43,,0.144295(N),1.000(P),"2.24,1.91(T,T)",0.0000(T),0.303,0.682808,5.51,-11.0,-0.472000,-2.690000,-0.575000,0.851000,0.000000,0.000000,3.7682
missense_variant,SNX31,MISSENSE,NM_152628.3:p.Gln309Arg/c.926A>G,cAg/cGg,MODERATE,COSM3762955(2),0.383786,0.1835,rs2248609,0.55(T),"0.015,0.002(B,B)",1.43(L),-0.9179(T),,chr8,101608919,101608919,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln309Arg/c.926A>G|440|SNX31|protein_coding|CODING|NM_152628.3|10|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3528,0.4611,0.3539,0.41,0.53,0.34,,0.083042(N),0.916(P),"2.19,1.84(T,T)",0.0000(T),0.039,-0.773849,4.55,0.908,0.460000,0.005000,0.177000,0.048000,0.572000,0.991000,7.7599
missense_variant,SNX31,MISSENSE,NM_152628.3:p.Asp73His/c.217G>C,Gat/Cat,MODERATE,COSM3762956(1),0.33127,0.2579,rs2187016,0.02(D),0.715(P),1.385(L),-0.9029(T),,chr8,101648164,101648164,C,G,hom,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp73His/c.217G>C|440|SNX31|protein_coding|CODING|NM_152628.3|3|1),,,,,0.3548,0.2795,0.165,0.30,0.46,0.22,,0.130569(N),0.000(P),"1.53,1.53,1.53,1.29(T,T,T,T)",0.0000(T),0.345,2.788555,5.72,1.95,-0.266000,0.079000,0.190000,0.892000,0.977000,0.659000,8.8661
missense_variant,PABPC1,MISSENSE,NM_002568.3:p.Val517Leu/c.1549G>C,Gtt/Ctt,MODERATE,COSM4162556(3),,,rs62513920,,,1.915(M),-1.0024(T),,chr8,101718932,101718932,C,G,het,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val517Leu/c.1549G>C|636|PABPC1|protein_coding|CODING|NM_002568.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.1280(T),.,5.122361,5.3,5.3,0.591000,2.658000,7.233000,0.990000,0.994000,1.000000,19.3206
missense_variant,PABPC1,MISSENSE,NM_002568.3:p.Arg506Cys/c.1516C>T,Cgc/Tgc,MODERATE,COSM3774307(3),,,rs62513921,0.03(D),"0.711,0.017,0.62(P,B,P)",2.095(M),-0.8327(T),,chr8,101718965,101718965,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg506Cys/c.1516C>T|636|PABPC1|protein_coding|CODING|NM_002568.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000353(D),1.000(D),"0.89,0.89,0.89,0.89,0.89(T,T,T,T,T)",0.1638(T),0.616,2.966636,5.4,4.52,-0.150000,1.427000,6.013000,0.960000,1.000000,1.000000,9.4895
missense_variant,PABPC1,MISSENSE,NM_002568.3:p.Val505Ile/c.1513G>A,Gtc/Atc,MODERATE,COSM3774308(3),,,rs62513922,0.4(T),"0.008,0.008,0.008(B,B,B)",1.955(M),-0.9975(T),,chr8,101718968,101718968,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val505Ile/c.1513G>A|636|PABPC1|protein_coding|CODING|NM_002568.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000070(D),1.000(D),"0.95,0.95,0.95,0.95,0.95(T,T,T,T,T)",0.1280(T),0.534,4.873827,5.4,5.4,0.655000,2.706000,7.233000,0.961000,1.000000,1.000000,19.5279
synonymous_variant,PABPC1,SILENT,NM_002568.3:p.Ala498Ala/c.1494C>T,gcC/gcT,LOW,COSM3732363(3),,,rs62513923,,,,-0.9458(T),,chr8,101718987,101718987,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala498Ala/c.1494C>T|636|PABPC1|protein_coding|CODING|NM_002568.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.1624(T),.,1.419134,5.4,-2.54,-0.254000,-0.681000,0.353000,0.982000,0.967000,0.989000,7.0446
missense_variant,PABPC1,MISSENSE,NM_002568.3:p.Arg493Cys/c.1477C>T,Cgt/Tgt,MODERATE,COSM3774309(3),,,rs62513924,0.03(D),"0.027,0.302,0.302(B,B,B)",1.565(L),-0.8383(T),,chr8,101719004,101719004,G,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg493Cys/c.1477C>T|636|PABPC1|protein_coding|CODING|NM_002568.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000004(D),1.000(D),"1.52,1.45,2.5,0.7(T,T,T,T)",0.1654(T),0.955,3.729404,5.3,5.3,0.591000,2.658000,7.248000,0.998000,1.000000,1.000000,19.3206
missense_variant,PABPC1,MISSENSE,NM_002568.3:p.Arg374Cys/c.1120C>T,Cgc/Tgc,MODERATE,COSM4162562(1),,,rs200409148,,,1.805(L),-1.1733(T),,chr8,101721812,101721812,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg374Cys/c.1120C>T|636|PABPC1|protein_coding|CODING|NM_002568.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.0584(T),.,5.154399,5.05,5.05,0.561000,2.507000,6.694000,0.998000,1.000000,1.000000,18.7718
missense_variant,PABPC1,MISSENSE,NM_002568.3:p.Glu372Gly/c.1115A>G,gAa/gGa,MODERATE,,,,rs201076736,0(D),"0.963,0.822,0.993(D,P,D)",2.955(M),0.0362(D),,chr8,101721817,101721817,T,C,het,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu372Gly/c.1115A>G|636|PABPC1|protein_coding|CODING|NM_002568.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000005(D),1.000(D),"3.35,3.35,3.35(T,T,T)",0.4612(T),0.775,4.844761,5.05,5.05,0.459000,2.028000,7.968000,0.998000,1.000000,1.000000,15.0956
missense_variant,PABPC1,MISSENSE,NM_002568.3:p.Val365Leu/c.1093G>T,Gta/Tta,MODERATE,COSM4162563(1),,,rs202074479,,,2.275(M),-1.1246(T),,chr8,101721839,101721839,C,A,het,missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val365Leu/c.1093G>T|636|PABPC1|protein_coding|CODING|NM_002568.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.0728(T),.,5.056922,5.05,5.05,0.561000,2.507000,7.748000,0.998000,1.000000,1.000000,18.7718
synonymous_variant,PABPC1,SILENT,NM_002568.3:p.Asn354Asn/c.1062C>T,aaC/aaT,LOW,COSM289953(1),,,rs146609644,,,,-0.9261(T),,chr8,101721870,101721870,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn354Asn/c.1062C>T|636|PABPC1|protein_coding|CODING|NM_002568.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.1922(T),.,1.076506,4.92,0.812,-0.345000,-0.042000,0.616000,0.995000,0.999000,0.998000,8.6459
synonymous_variant,ODF1,SILENT,NM_024410.3:p.Pro211Pro/c.633C>G,ccC/ccG,LOW,,0.786342,0.6399,rs3018444,,,,,,chr8,103572992,103572992,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro211Pro/c.633C>G|250|ODF1|protein_coding|CODING|NM_024410.3|2|1),"HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.907,0.9063,0.9046,0.82,0.68,0.89,,,,,,,,,,,,,,,,
synonymous_variant,ODF1,SILENT,NM_024410.3:p.Pro214Pro/c.642C>G,ccC/ccG,LOW,COSM3774313(3),0.490615,0.3056,rs3018445,,,,,,chr8,103573001,103573001,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro214Pro/c.642C>G|250|ODF1|protein_coding|CODING|NM_024410.3|2|1),"HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5716,0.5043,0.6431,0.58,0.46,0.64,,,,,,,,,,,,,,,,
missense_variant,ODF1,MISSENSE,NM_024410.3:p.Ser216Asn/c.647G>A,aGc/aAc,MODERATE,COSM4162573(1),0.542332,0.3165,rs2916569,1(T),0.0(B),0.14(N),-0.9792(T),,chr8,103573006,103573006,G,A,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser216Asn/c.647G>A|250|ODF1|protein_coding|CODING|NM_024410.3|2|1),"HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5716,0.5216,0.6481,,,,,0.690909(N),1.000(P),"-2.06,1.84(D,T)",0.0000(T),0.025,-1.962775,4.81,-7.32,-2.218000,-1.156000,-2.159000,0.005000,0.053000,0.000000,15.4159
synonymous_variant,KLF10,SILENT,NM_005655.3:p.Thr216Thr/c.648A>C,acA/acC,LOW,,0.135383,0.1458,rs11552577,,,,,,chr8,103663912,103663912,T,G,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr205Thr/c.615A>C|469|KLF10|protein_coding|CODING|NM_001032282.3|3|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr216Thr/c.648A>C|480|KLF10|protein_coding|CODING|NM_005655.3|3|1),intron_variant(MODIFIER|||n.729+480A>C||KLF10||CODING|NR_103759.1|2|1),intron_variant(MODIFIER|||n.730-413A>C||KLF10||CODING|NR_103760.1|2|1)","H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1401,0.2666,0.1879,0.13,0.04,0.18,,,,,,,,,,,,,,,,
start_lost,FZD6,MISSENSE,NM_001164616.1:p.Met1?/c.1A>G,Atg/Gtg,HIGH,COSM1453718(2),0.170128,0.0129,rs827528,0.18(T),"0.001,0.001(B,B)",0.85(L),-1.0961(T),FZD6:0.33(3);,chr8,104312432,104312432,A,G,hom,"start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|674|FZD6|protein_coding|CODING|NM_001164616.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met33Val/c.97A>G|706|FZD6|protein_coding|CODING|NM_001164615.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met33Val/c.97A>G|706|FZD6|protein_coding|CODING|NM_003506.3|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,IMR90:H3K4me2,HeLa-S3:H3K4me2,IMR90:DNase1,HMEC:H3K4me2,NH-A:DNase1,HUVEC:H3K4me2,HUVEC:H3K4me1,NHEK:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1708,0.1657,0.2704,0.25,0.21,0.27,,0.121550(N),0.000(P),"-0.93,-0.93,-0.98(T,T,T)",0.0000(T),0.106,1.756296,5.93,-0.683,-0.256000,-0.097000,-0.195000,0.985000,0.954000,0.093000,2.9794
synonymous_variant,CTHRC1,SILENT,NM_138455.3:p.Gly216Gly/c.648T>C,ggT/ggC,LOW,COSM3762968(2),0.744609,0.6677,rs3098233,,,,,,chr8,104394744,104394744,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly202Gly/c.606T>C|229|CTHRC1|protein_coding|CODING|NM_001256099.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly216Gly/c.648T>C|243|CTHRC1|protein_coding|CODING|NM_138455.3|4|1)","NH-A:H3K36me3,IMR90:H3K36me3",,,,0.7434,0.732,0.7684,0.78,0.78,0.79,,,,,,,,,,,,,,,,
missense_variant,DCAF13,MISSENSE,NM_015420.6:p.Arg47Ser/c.141A>C,agA/agC,MODERATE,COSM453777(2),0.428315,0.3462,rs3134295,1(T),,,-0.9817(T),,chr8,104427359,104427359,A,C,hom,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg47Ser/c.141A>C|597|DCAF13|protein_coding|CODING|NM_015420.6|1|1),5_prime_UTR_variant(MODIFIER||194|c.-194T>G|315|SLC25A32|protein_coding|CODING|NM_030780.4|1|1),non_coding_exon_variant(MODIFIER|||n.205T>G||SLC25A32||CODING|NR_102337.1|1|1),non_coding_exon_variant(MODIFIER|||n.205T>G||SLC25A32||CODING|NR_102338.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,CD4:MOF,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,CD4:H4K12ac,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,CD4:H2BK12ac,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.3722,0.4294,0.4722,0.46,0.50,0.44,,,1.000(P),-1.06(T),0.0000(T),0.006,-0.209151,4.05,0.973,-0.127000,0.137000,-3.250000,0.005000,0.000000,0.000000,2.054
missense_variant,DCSTAMP,MISSENSE,NM_030788.3:p.Ser374Thr/c.1120T>A,Tct/Act,MODERATE,,,,rs370773483,0.39(T),0.355(B),2.3(M),-1.0626(T),,chr8,105367195,105367195,T,A,het,"missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser374Thr/c.1120T>A|470|DCSTAMP|protein_coding|CODING|NM_030788.3|3|1),intron_variant(MODIFIER|||c.828-1157T>A|283|DCSTAMP|protein_coding|CODING|NM_001257317.1|2|1)","GM12878:H3K36me3,NHEK:H3K27me3",,,,,,,0.00,0.00,0.00,,0.000091(D),1.000(D),1.53(T),0.0877(T),0.278,1.892627,5.44,4.25,0.533000,0.963000,0.899000,0.244000,0.359000,0.001000,11.4019
synonymous_variant,DPYS,SILENT,NM_001385.2:p.Phe72Phe/c.216C>T,ttC/ttT,LOW,COSM3762983(4),0.231629,0.3085,rs2298840,,,,,,chr8,105478933,105478933,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe72Phe/c.216C>T|519|DPYS|protein_coding|CODING|NM_001385.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1493,0.2133,0.175,0.16,0.20,0.15,,,,,,,,,,,,,,,,
synonymous_variant,DPYS,SILENT,NM_001385.2:p.Ser5Ser/c.15G>A,tcG/tcA,LOW,COSM3431997(1),0.0319489,0.0169,rs182332679,,,,,,chr8,105479134,105479134,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser5Ser/c.15G>A|519|DPYS|protein_coding|CODING|NM_001385.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0675,0.0375,0.0378,0.02,0.02,0.02,,,,,,,,,,,,,,,,
missense_variant,ZFPM2,MISSENSE,NM_012082.3:p.Glu782Asp/c.2346G>C,gaG/gaC,MODERATE,COSM3762985(1),0.057508,0,rs2920048,0.62(T),0.004(B),0(N),-0.9756(T),,chr8,106814656,106814656,G,C,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu782Asp/c.2346G>C|1151|ZFPM2|protein_coding|CODING|NM_012082.3|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.0736,0.0893,0.1412,0.10,0.03,0.14,,0.000002(N),0.987(P),"2.24,2.71,2.71,3.92(T,T,T,T)",0.0001(T),0.062,-0.113823,5.72,-7.08,0.561000,-1.181000,-1.006000,0.993000,0.265000,0.004000,8.9578
synonymous_variant,OXR1,SILENT,NM_001198532.1:p.Glu781Glu/c.2343G>A,gaG/gaA,LOW,COSM3982350(1),0.381589,0.3492,rs1681904,,,,-0.8655(T),,chr8,107754473,107754473,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu781Glu/c.2343G>A|874|OXR1|protein_coding|CODING|NM_001198532.1|14|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu780Glu/c.2340G>A|873|OXR1|protein_coding|CODING|NM_001198533.1|15|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu150Glu/c.450G>A|243|OXR1|protein_coding|CODING|NM_001198534.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu123Glu/c.369G>A|216|OXR1|protein_coding|CODING|NM_001198535.1|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu753Glu/c.2259G>A|846|OXR1|protein_coding|CODING|NM_018002.3|14|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu746Glu/c.2238G>A|839|OXR1|protein_coding|CODING|NM_181354.4|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4898,0.5216,0.4433,0.37,0.24,0.43,,,0.000(P),,0.0000(T),.,0.863313,5.46,4.35,0.563000,2.715000,1.822000,0.938000,1.000000,1.000000,6.9569
missense_variant,ABRA,MISSENSE,NM_139166.4:p.Gly9Arg/c.25G>A,Ggg/Agg,MODERATE,,0.000798722,0,rs143979123,0.22(T),0.002(B),0.755(N),-0.5135(T),,chr8,107782394,107782394,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly9Arg/c.25G>A|381|ABRA|protein_coding|CODING|NM_139166.4|1|1),"GM12878:H3K36me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0,0.004,0.00,0.00,0.00,,0.117828(N),1.000(N),-3.03(D),0.4522(T),0.073,-0.143545,5.29,4.4,0.609000,1.325000,0.401000,0.130000,0.191000,0.000000,5.6076
missense_variant,RSPO2,MISSENSE,NM_178565.4:p.Leu186Pro/c.557T>C,cTg/cCg,MODERATE,,0.490216,0.6885,rs601558,0.51(T),"0.0,0.0(B,B)",-1.355(N),-0.9582(T),,chr8,108970367,108970367,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu122Pro/c.365T>C|179|RSPO2|protein_coding|CODING|NM_001282863.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu186Pro/c.557T>C|243|RSPO2|protein_coding|CODING|NM_178565.4|5|1)",,,,,0.5992,0.598,0.6551,0.47,0.17,0.63,,0.000000(N),0.002(P),"-0.89,-0.89,-0.89,-0.89,-0.89(T,T,T,T,T)",0.0000(T),0.118,1.706977,5.83,4.95,-0.213000,1.487000,4.621000,0.935000,0.876000,1.000000,13.1397
missense_variant,NUDCD1,MISSENSE,NM_032869.3:p.Ile269Val/c.805A>G,Ata/Gta,MODERATE,COSM3762988(1),0.379593,0.4603,rs2980618,0.28(T),"0.001,0.0,0.001(B,B,B)",0(N),-0.9213(T),,chr8,110301998,110301998,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile240Val/c.718A>G|554|NUDCD1|protein_coding|CODING|NM_001128211.1|5|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile269Val/c.805A>G|583|NUDCD1|protein_coding|CODING|NM_032869.3|5|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.5143,0.4914,0.3569,0.34,0.23,0.39,,0.000923(D),1.000(P),"2.37,2.36(T,T)",0.0000(T),0.022,-0.316379,5.69,1.55,0.533000,0.388000,0.454000,0.958000,0.979000,0.164000,5.01
missense_variant,NUDCD1,MISSENSE,NM_032869.3:p.Leu252Phe/c.756A>C,ttA/ttC,MODERATE,COSM3762989(1),0.671126,0.5218,rs2980619,1(T),"0.0,0.0,0.0(B,B,B)",-2.36(N),-0.9878(T),,chr8,110302047,110302047,T,G,het,"missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu223Phe/c.669A>C|554|NUDCD1|protein_coding|CODING|NM_001128211.1|5|1),missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu252Phe/c.756A>C|583|NUDCD1|protein_coding|CODING|NM_032869.3|5|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7035,0.6888,0.4841,0.64,0.84,0.54,,0.000000(N),1.000(P),"2.33,2.33(T,T)",0.0000(T),0.09,-1.391632,5.69,3.81,-0.770000,0.293000,2.429000,0.139000,0.277000,1.000000,7.738
missense_variant,PKHD1L1,MISSENSE,NM_177531.4:p.Ile164Val/c.490A>G,Atc/Gtc,MODERATE,,0.0129792,0,rs62508075,0.39(T),0.644(P),0.58(N),-1.0293(T),,chr8,110397780,110397780,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile164Val/c.490A>G|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|6|1),,,,,0.0082,0.0202,0.0378,0.04,0.01,0.05,,0.001891(N),0.962(N),-0.09(T),0.0396(T),0.182,1.082586,5.58,5.58,0.454000,2.129000,2.483000,0.971000,1.000000,1.000000,13.699
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Lys409Lys/c.1227G>A,aaG/aaA,LOW,COSM3762991(1),0.598642,0.3968,rs1379369,,,,,,chr8,110412519,110412519,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys409Lys/c.1227G>A|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|13|1),,,,,0.7137,0.6556,0.5239,0.59,0.69,0.54,,,,,,,,,,,,,,,,
missense_variant,PKHD1L1,MISSENSE,NM_177531.4:p.Tyr440His/c.1318T>C,Tat/Cat,MODERATE,,0.3123,0.3929,rs964307,0(D),0.972(D),1.955(M),-0.9209(T),,chr8,110413762,110413762,T,C,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr440His/c.1318T>C|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|14|1),,,,,0.3374,0.4741,0.3111,0.28,0.19,0.32,,0.002147(N),0.997(P),2.03(T),0.0000(T),0.239,3.697657,5.75,5.75,0.477000,2.193000,5.614000,0.844000,0.977000,1.000000,14.007
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Tyr468Tyr/c.1404C>T,taC/taT,LOW,COSM3762992(1),0.598243,0.3968,rs1457286,,,,,,chr8,110416813,110416813,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr468Tyr/c.1404C>T|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|15|1),,,,,0.7137,0.6556,0.5239,0.59,0.69,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Asn640Asn/c.1920T>C,aaT/aaC,LOW,,0.314097,0.3929,rs13254245,,,,,,chr8,110420384,110420384,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn640Asn/c.1920T>C|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|18|1),,,,,0.3374,0.4741,0.3111,0.28,0.19,0.32,,,,,,,,,,,,,,,,
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Glu655Glu/c.1965A>G,gaA/gaG,LOW,,0.314097,0.3929,rs13252234,,,,,,chr8,110420429,110420429,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu655Glu/c.1965A>G|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|18|1),,,,,0.3374,0.4741,0.3111,0.28,0.19,0.32,,,,,,,,,,,,,,,,
missense_variant,PKHD1L1,MISSENSE,NM_177531.4:p.His923Arg/c.2768A>G,cAt/cGt,MODERATE,COSM3762993(1),0.61262,0.3968,rs4735133,0.8(T),0.0(B),-1.67(N),-0.9498(T),,chr8,110437384,110437384,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His923Arg/c.2768A>G|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|24|1),,,,,0.7117,0.6585,0.5219,0.60,0.73,0.54,,0.040590(N),1.000(P),-1.87(D),0.0000(T),0.019,0.420189,5.16,1.04,-1.428000,0.270000,0.228000,0.959000,0.999000,0.993000,6.2328
missense_variant,PKHD1L1,MISSENSE,NM_177531.4:p.Arg1514Ser/c.4540C>A,Cgc/Agc,MODERATE,COSM3762996(1),0.560903,0.4048,rs1673408,0.43(T),0.0(B),-0.69(N),-0.9433(T),,chr8,110455321,110455321,C,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg1514Ser/c.4540C>A|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|36|1),,,,,0.7198,0.6556,0.5119,0.55,0.57,0.54,,0.003731(N),1.000(P),-1.91(D),0.0000(T),0.041,1.030005,6.16,-5.52,-0.264000,-1.364000,0.031000,0.890000,0.001000,0.134000,10.8392
missense_variant,PKHD1L1,MISSENSE,NM_177531.4:p.Val1965Leu/c.5893G>T,Gtg/Ttg,MODERATE,COSM1454074(2),0.614417,0.4048,rs1673407,0.8(T),0.006(B),-1.245(N),-1.0011(T),,chr8,110460488,110460488,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val1965Leu/c.5893G>T|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|39|1),,,,,0.7188,0.6671,0.5119,0.60,0.73,0.54,,0.013661(N),1.000(P),-1.5(D),0.0000(T),0.079,-0.902887,5.49,-3.17,-0.346000,-1.308000,-1.884000,0.617000,0.001000,0.000000,2.4839
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Leu2207Leu/c.6621G>C,ctG/ctC,LOW,COSM3762998(1),0.500599,0.4028,rs1673404,,,,,,chr8,110465060,110465060,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu2207Leu/c.6621G>C|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|43|1),,,,,0.6697,0.6196,0.503,0.49,0.43,0.52,,,,,,,,,,,,,,,,
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Ala2644Ala/c.7932A>G,gcA/gcG,LOW,COSM3762999(1),0.515575,0.4147,rs1673398,,,,,,chr8,110476993,110476993,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala2644Ala/c.7932A>G|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|49|1),NHEK:H3K27me3,,,,0.7147,0.634,0.504,0.48,0.41,0.52,,,,,,,,,,,,,,,,
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Thr3028Thr/c.9084A>T,acA/acT,LOW,,0.426318,0.3284,rs1783148,,,,,,chr8,110489620,110489620,A,T,het,synonymous_variant(LOW|SILENT|acA/acT|p.Thr3028Thr/c.9084A>T|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|53|1),,,,,0.6125,0.5187,0.337,0.37,0.38,0.36,,,,,,,,,,,,,,,,
missense_variant,PKHD1L1,MISSENSE,NM_177531.4:p.His3050Gln/c.9150C>G,caC/caG,MODERATE,COSM3763000(1),0.425719,0.3284,rs1783147,0.88(T),0.001(B),-1.7(N),-1.0420(T),,chr8,110491840,110491840,C,G,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His3050Gln/c.9150C>G|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|54|1),,,,,0.6094,0.5202,0.337,0.36,0.37,0.36,,0.819430(N),1.000(P),-2.31(D),0.0000(T),0.036,-0.086257,5.88,-3.42,0.655000,-0.330000,0.097000,0.989000,0.067000,0.121000,1.9072
synonymous_variant,PKHD1L1,SILENT,NM_177531.4:p.Ser4043Ser/c.12129G>A,tcG/tcA,LOW,,0.285343,0.3244,rs1563578,,,,,,chr8,110534512,110534512,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser4043Ser/c.12129G>A|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|74|1),GM12878:H3K27ac,,,,0.2301,0.3991,0.1412,0.21,0.33,0.16,,,,,,,,,,,,,,,,
missense_variant,PKHD1L1,MISSENSE,NM_177531.4:p.Val4220Ile/c.12658G>A,Gtt/Att,MODERATE,,0.284944,0.3244,rs1783174,0.82(T),0.0(B),0.55(N),-1.0975(T),,chr8,110539186,110539186,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val4220Ile/c.12658G>A|4243|PKHD1L1|protein_coding|CODING|NM_177531.4|77|1),"HUVEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.229,0.3991,0.1402,0.21,0.32,0.16,,0.890675(N),1.000(P),"-2.04,-1.89(D,D)",0.0000(T),0.037,-0.761348,5.64,-9.18,-2.208000,-1.635000,-1.952000,0.132000,0.000000,0.000000,9.2526
missense_variant,CSMD3,MISSENSE,NM_198123.1:p.Ile219Met/c.657A>G,atA/atG,MODERATE,,0.466054,0.6766,rs2219898,0.19(T),"0.392,0.168,0.691,0.622(B,B,P,P)",0.725(N),-1.0123(T),,chr8,114186003,114186003,T,C,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile219Met/c.657A>G|3538|CSMD3|protein_coding|CODING|NM_052900.2|4|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile219Met/c.657A>G|3707|CSMD3|protein_coding|CODING|NM_198123.1|4|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile179Met/c.537A>G|3667|CSMD3|protein_coding|CODING|NM_198124.1|5|1)",,,,,0.3906,0.611,0.2674,0.31,0.40,0.27,,0.004715(N),0.902(P),"1.84,1.84,1.84,1.84(T,T,T,T)",0.0000(T),0.167,0.727602,5.09,1.06,0.528000,0.003000,0.054000,0.996000,0.999000,0.994000,7.6324
missense_variant,SLC30A8,MISSENSE,NM_173851.2:p.Arg325Trp/c.973C>T,Cgg/Tgg,MODERATE,COSM4162621(1),0.255192,0.4573,rs13266634,0.03(D),0.001(B),1.585(L),-0.9419(T),,chr8,118184783,118184783,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg276Trp/c.826C>T|320|SLC30A8|protein_coding|CODING|NM_001172811.1|10|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg276Trp/c.826C>T|320|SLC30A8|protein_coding|CODING|NM_001172813.1|11|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg276Trp/c.826C>T|320|SLC30A8|protein_coding|CODING|NM_001172814.1|9|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg276Trp/c.826C>T|320|SLC30A8|protein_coding|CODING|NM_001172815.1|11|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg325Trp/c.973C>T|369|SLC30A8|protein_coding|CODING|NM_173851.2|8|1)","HUVEC:H3K27me3,NHEK:H3K27me3,K562:DNase1","Type_2_diabetes,Type_2_diabetes_and_other_traits,Type_2_diabetes,Glycated_hemoglobin_levels,Type_2_diabetes,Type_2_diabetes,Type_2_diabetes,Type_2_diabetes,Type_2_diabetes,Type_2_diabetes",RCV000001055.2,,0.2546,0.2666,0.2833,0.23,0.10,0.30,,0.733902(N),1.000(P),"-0.14,-0.14,-0.14,-0.14(T,T,T,T)",0.0000(T),0.139,1.783088,5.15,-1.75,0.650000,-0.224000,-0.403000,0.584000,0.922000,0.000000,0.8731
synonymous_variant,EXT1,SILENT,NM_000127.2:p.Glu587Glu/c.1761G>A,gaG/gaA,LOW,COSM3982365(2),0.338458,0.38,rs7837891,,,,,,chr8,118819578,118819578,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu587Glu/c.1761G>A|746|EXT1|protein_coding|CODING|NM_000127.2|9|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3006,0.549,0.4185,0.35,0.21,0.42,,,,,,,,,,,,,,,,
synonymous_variant,EXT1,SILENT,NM_000127.2:p.Pro477Pro/c.1431C>T,ccC/ccT,LOW,,0.120208,0.0308,rs17439693,,,,,,chr8,118832020,118832020,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro477Pro/c.1431C>T|746|EXT1|protein_coding|CODING|NM_000127.2|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1002,0.1772,0.2445,0.16,0.11,0.19,,,,,,,,,,,,,,,,
synonymous_variant,SAMD12,SILENT,NM_207506.2:p.Leu157Leu/c.471A>G,ctA/ctG,LOW,COSM3982367(1),0.600639,0.3244,rs5020517,,,,,,chr8,119391791,119391791,T,C,het,"splice_region_variant(LOW|||c.464A>G|161|SAMD12|protein_coding|CODING|NM_001101676.1|4|1),splice_region_variant(LOW|||n.508A>G||SAMD12||CODING|NR_109794.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu157Leu/c.471A>G|201|SAMD12|protein_coding|CODING|NM_207506.2|4|1),intron_variant(MODIFIER|||c.463+8A>G|161|SAMD12|protein_coding|CODING|NM_001101676.1|4|1),intron_variant(MODIFIER|||n.507+8A>G||SAMD12||CODING|NR_109794.1|4|1)","GM12878:H3K36me3,CD4:H3K36me3",,,,0.4847,0.5259,0.6938,0.74,0.85,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SAMD12,SILENT,NM_207506.2:p.His132His/c.396C>T,caC/caT,LOW,COSM4162622(1),0.0662939,0.001,rs12171673,,,,-1.1960(T),,chr8,119391866,119391866,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His132His/c.396C>T|201|SAMD12|protein_coding|CODING|NM_207506.2|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His132His/c.396C>T|161|SAMD12|protein_coding|CODING|NM_001101676.1|4|1),non_coding_exon_variant(MODIFIER|||n.440C>T||SAMD12||CODING|NR_109794.1|4|1)","GM12878:H3K36me3,CD4:H3K36me3",,,,0.0317,0.085,0.2008,0.13,0.05,0.17,,0.000000(D),0.000(P),-1.96(D),0.0007(T),.,1.369714,6.17,6.17,0.655000,2.941000,3.768000,0.992000,1.000000,1.000000,20.8794
synonymous_variant,TNFRSF11B,SILENT,NM_002546.3:p.Leu256Leu/c.768A>G,ttA/ttG,LOW,,0.0786741,0.0069,rs2228568,,,,,,chr8,119938782,119938782,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu256Leu/c.768A>G|401|TNFRSF11B|protein_coding|CODING|NM_002546.3|4|1),"HSMM:H3K36me3,IMR90:H3K36me3",,,,0.1605,0.0663,0.1223,0.11,0.06,0.13,,,,,,,,,,,,,,,,
synonymous_variant,MAL2,SILENT,NM_052886.2:p.Ser72Ser/c.216C>T,tcC/tcT,LOW,,0.0395367,0,rs34920533,,,,,,chr8,120233910,120233910,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser72Ser/c.216C>T|176|MAL2|protein_coding|CODING|NM_052886.2|3|1),"H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0389,0.0447,0.0924,0.07,0.04,0.09,,,,,,,,,,,,,,,,
missense_variant,ENPP2,MISSENSE,NM_006209.4:p.Ser545Pro/c.1633T>C,Tca/Cca,MODERATE,,0.983427,1,rs10283100,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.61(N),-0.9303(T),,chr8,120596023,120596023,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser493Pro/c.1477T>C|863|ENPP2|protein_coding|CODING|NM_001040092.2|17|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser493Pro/c.1477T>C|888|ENPP2|protein_coding|CODING|NM_001130863.2|17|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser545Pro/c.1633T>C|915|ENPP2|protein_coding|CODING|NM_006209.4|18|1),non_coding_exon_variant(MODIFIER|||n.480T>C||ENPP2||CODING|NR_045555.1|6|1)",,,,,0.9939,0.9726,0.9463,0.96,0.99,0.95,,0.000000(N),0.984(P),"-0.25,-0.25,-0.25,-0.25,-0.25(T,T,T,T,T)",0.0000(T),0.219,0.806371,5.54,5.54,-0.215000,1.359000,8.030000,0.987000,1.000000,1.000000,14.6261
synonymous_variant,TAF2,SILENT,NM_003184.3:p.Thr773Thr/c.2319A>G,acA/acG,LOW,,0.545927,0.4296,rs1509348,,,,,,chr8,120790304,120790304,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr773Thr/c.2319A>G|1199|TAF2|protein_coding|CODING|NM_003184.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3988,0.6585,0.5527,0.60,0.68,0.56,,,,,,,,,,,,,,,,
missense_variant,TAF2,MISSENSE,NM_003184.3:p.Ser447Thr/c.1340G>C,aGt/aCt,MODERATE,COSM3982377(1),0.658347,0.4524,rs9297605,0.41(T),0.0(B),0.55(N),-1.0299(T),,chr8,120803637,120803637,C,G,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser447Thr/c.1340G>C|1199|TAF2|protein_coding|CODING|NM_003184.3|11|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6554,0.7277,0.6779,0.72,0.77,0.70,,0.000091(N),1.000(P),3.55(T),0.0000(T),0.193,0.967837,4.79,2.97,-0.352000,0.188000,4.770000,0.810000,0.980000,1.000000,5.3716
missense_variant,DSCC1,MISSENSE,NM_024094.2:p.His376Arg/c.1127A>G,cAt/cGt,MODERATE,COSM150524(1),0.659345,0.4534,rs1055130,1(T),0.0(B),-2.135(N),-0.9814(T),,chr8,120847188,120847188,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His376Arg/c.1127A>G|393|DSCC1|protein_coding|CODING|NM_024094.2|9|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6595,0.7291,0.6769,0.72,0.77,0.70,,0.000000(N),0.995(P),3.18(T),0.0000(T),0.061,0.197817,5.09,4.22,-0.735000,0.680000,3.198000,0.917000,0.952000,0.994000,12.0066
synonymous_variant,DEPTOR,SILENT,NM_022783.3:p.His45His/c.135C>T,caC/caT,LOW,COSM3763027(2),0.248802,0.0367,rs16893299,,,,,,chr8,120940652,120940652,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His45His/c.135C>T|409|DEPTOR|protein_coding|CODING|NM_022783.3|2|1),intron_variant(MODIFIER|||c.123-36820C>T|308|DEPTOR|protein_coding|CODING|NM_001283012.1|1|1)",,,,,0.3425,0.1873,0.2416,0.30,0.36,0.26,,,,,,,,,,,,,,,,
missense_variant,DEPTOR,MISSENSE,NM_022783.3:p.Asn204Ser/c.611A>G,aAc/aGc,MODERATE,,0.641174,0.7093,rs2271900,0.39(T),"0.338,0.02(B,B)",1.175(L),-1.1217(T),,chr8,121013770,121013770,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn103Ser/c.308A>G|308|DEPTOR|protein_coding|CODING|NM_001283012.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn204Ser/c.611A>G|409|DEPTOR|protein_coding|CODING|NM_022783.3|5|1)",,,,,0.6483,0.7219,0.7296,0.65,0.51,0.72,,0.000000(D),0.000(P),"2.49,2.49(T,T)",0.0000(T),0.191,2.345632,6.03,3.58,0.533000,1.112000,4.774000,0.390000,1.000000,1.000000,8.909
missense_variant,DEPTOR,MISSENSE,NM_022783.3:p.Ser389Asn/c.1166G>A,aGc/aAc,MODERATE,COSM3736458(2),0.299521,0.5526,rs4871827,0.07(T),"0.037,0.008(B,B)",1.625(L),-0.9025(T),,chr8,121061879,121061879,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser288Asn/c.863G>A|308|DEPTOR|protein_coding|CODING|NM_001283012.1|7|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser389Asn/c.1166G>A|409|DEPTOR|protein_coding|CODING|NM_022783.3|9|1)","H1ESC:H3K27ac,H1ESC:H4K5ac",,,,0.1166,0.4784,0.331,0.26,0.15,0.32,,0.000000(D),0.000(P),"1.54,1.54(T,T)",0.0000(T),0.211,3.319471,6.01,6.01,0.650000,2.861000,8.997000,0.329000,1.000000,1.000000,20.1162
synonymous_variant,COL14A1,SILENT,NM_021110.2:p.Gly204Gly/c.612T>C,ggT/ggC,LOW,COSM1569217(2),0.634385,0.6597,rs2305598,,,,,,chr8,121210069,121210069,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly204Gly/c.612T>C|1796|COL14A1|protein_coding|CODING|NM_021110.2|7|1),,,,,0.5593,0.6009,0.4622,0.58,0.76,0.48,,,,,,,,,,,,,,,,
synonymous_variant,COL14A1,SILENT,NM_021110.2:p.Ser307Ser/c.921T>C,tcT/tcC,LOW,,0.638379,0.6736,rs2305600,,,,,,chr8,121215991,121215991,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser307Ser/c.921T>C|1796|COL14A1|protein_coding|CODING|NM_021110.2|9|1),HepG2:H3K27me3,,,,0.592,0.5937,0.4612,0.57,0.75,0.48,,,0.000(P),,,.,-0.911146,5.09,-10.2,-3.839000,-7.555000,-6.194000,0.222000,0.001000,0.000000,5.3649
missense_variant,COL14A1,MISSENSE,NM_021110.2:p.Asn563His/c.1687A>C,Aat/Cat,MODERATE,COSM1569216(2),0.590056,0.6687,rs4870723,0.05(D),"0.506,0.298(P,B)",0.755(N),-0.9689(T),,chr8,121228679,121228679,A,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn563His/c.1687A>C|1796|COL14A1|protein_coding|CODING|NM_021110.2|14|1),IMR90:H3K36me3,,,,0.591,0.5749,0.4702,0.52,0.58,0.49,,0.524871(N),1.000(P),"0.4,0.4,0.4,0.4(T,T,T,T)",0.0000(T),0.149,1.450389,5.29,2.85,0.533000,0.435000,3.215000,0.003000,0.010000,0.244000,7.3206
synonymous_variant,MTBP,SILENT,NM_022045.4:p.Glu782Glu/c.2346A>G,gaA/gaG,LOW,COSM4162636(1),0.478634,0.5774,rs13258848,,,,,,chr8,121530190,121530190,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu782Glu/c.2346A>G|904|MTBP|protein_coding|CODING|NM_022045.4|19|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,0.5184,0.6066,0.6869,0.52,0.23,0.67,,,,,,,,,,,,,,,,
missense_variant,ZHX2,MISSENSE,NM_014943.3:p.Val357Met/c.1069G>A,Gtg/Atg,MODERATE,,0.00998403,0.001,rs386624028,0.16(T),0.001(B),0.69(N),-1.0161(T),,chr8,123964819,123964819,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val357Met/c.1069G>A|837|ZHX2|protein_coding|CODING|NM_014943.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0144,0.0258,0.03,0.01,0.04,,0.081968(N),1.000(N),2.28(T),0.0066(T),0.021,0.489767,5.62,1.42,-0.361000,0.008000,1.466000,0.782000,0.392000,1.000000,8.5687
missense_variant,ZHX2,MISSENSE,NM_014943.3:p.Gly779Ser/c.2335G>A,Ggc/Agc,MODERATE,COSM150529(1),0.117412,0.3681,rs3802264,0.18(T),0.004(B),0.695(N),-0.9216(T),,chr8,123966085,123966085,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly779Ser/c.2335G>A|837|ZHX2|protein_coding|CODING|NM_014943.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1462,0.0591,0.0278,0.02,0.01,0.03,,0.000508(N),0.014(P),2.33(T),0.0000(T),0.055,3.663346,5.83,4.95,0.561000,1.468000,2.500000,0.939000,0.931000,0.996000,11.8671
synonymous_variant,ZHX2,SILENT,NM_014943.3:p.Ala803Ala/c.2409G>C,gcG/gcC,LOW,,0.466853,0.7421,rs3802265,,,,,,chr8,123966159,123966159,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala803Ala/c.2409G>C|837|ZHX2|protein_coding|CODING|NM_014943.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3395,0.4035,0.3449,0.40,0.49,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D31,SILENT,NM_145647.3:p.Ala458Ala/c.1374A>G,gcA/gcG,LOW,COSM3763030(1),0.291334,0.1538,rs16897969,,,,,,chr8,124121798,124121798,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala458Ala/c.1374A>G|970|TBC1D31|protein_coding|CODING|NM_001145088.1|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala458Ala/c.1374A>G|1066|TBC1D31|protein_coding|CODING|NM_145647.3|10|1)",NHEK:H3K36me3,,,,0.2577,0.3588,0.2903,0.32,0.37,0.30,,,,,,,,,,,,,,,,
synonymous_variant,KLHL38,SILENT,NM_001081675.2:p.Ala505Ala/c.1515G>A,gcG/gcA,LOW,,0.160743,0.1637,rs16898671,,,,,,chr8,124658210,124658210,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala505Ala/c.1515G>A|581|KLHL38|protein_coding|CODING|NM_001081675.2|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2035,0.0821,0.1014,0.14,0.19,0.12,,,,,,,,,,,,,,,,
missense_variant,KLHL38,MISSENSE,NM_001081675.2:p.Arg346Lys/c.1037G>A,aGg/aAg,MODERATE,COSM4162651(1),0.706869,0.7113,rs11780509,1(T),0.001(B),0(N),-0.9513(T),,chr8,124664130,124664130,C,T,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg346Lys/c.1037G>A|581|KLHL38|protein_coding|CODING|NM_001081675.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6789,0.6902,0.8022,0.76,0.71,0.79,,0.050226(N),1.000(P),-0.17(T),0.0000(T),0.003,0.342830,5.18,-0.0604,0.561000,0.034000,1.274000,0.953000,0.005000,0.494000,4.7156
missense_variant,KLHL38,MISSENSE,NM_001081675.2:p.Ile334Val/c.1000A>G,Atc/Gtc,MODERATE,,0.726238,0.7113,rs11784192,0.97(T),0.007(B),0.735(N),-0.9328(T),,chr8,124664167,124664167,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile334Val/c.1000A>G|581|KLHL38|protein_coding|CODING|NM_001081675.2|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.7004,0.7118,0.8579,0.81,0.72,0.85,,0.085808(N),1.000(P),-0.32(T),0.0000(T),0.03,-2.190054,5.18,-2.96,-2.192000,-1.421000,-1.023000,0.111000,0.027000,0.002000,14.8205
synonymous_variant,KLHL38,SILENT,NM_001081675.2:p.Ser125Ser/c.375G>A,tcG/tcA,LOW,,0.708466,0.7113,rs7387544,,,,,,chr8,124664792,124664792,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser125Ser/c.375G>A|581|KLHL38|protein_coding|CODING|NM_001081675.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.68,0.6902,0.8022,0.76,0.71,0.79,,,,,,,,,,,,,,,,
synonymous_variant,KLHL38,SILENT,NM_001081675.2:p.His98His/c.294T>C,caT/caC,LOW,COSM4006836(1),0.727636,0.7113,rs7387792,,,,,,chr8,124664873,124664873,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His98His/c.294T>C|581|KLHL38|protein_coding|CODING|NM_001081675.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7004,0.7118,0.8579,0.80,0.71,0.84,,,,,,,,,,,,,,,,
missense_variant,KLHL38,MISSENSE,NM_001081675.2:p.His98Arg/c.293A>G,cAt/cGt,MODERATE,COSM4006837(1),0.727037,0.7113,rs7386562,0.71(T),0.0(B),0.43(N),-0.9817(T),,chr8,124664874,124664874,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His98Arg/c.293A>G|581|KLHL38|protein_coding|CODING|NM_001081675.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7004,0.7118,0.8579,0.80,0.72,0.84,,0.207124(N),1.000(P),-0.19(T),0.0000(T),0.015,-1.282167,5.37,-10.7,-0.355000,-2.417000,-0.180000,0.000000,0.000000,0.000000,0.6835
missense_variant,ANXA13,MISSENSE,NM_001003954.1:p.Val313Ile/c.937G>A,Gtc/Atc,MODERATE,,0.696086,0.498,rs2294015,0.84(T),"0.001,0.001(B,B)",-0.325(N),-1.0292(T),,chr8,124696867,124696867,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val313Ile/c.937G>A|357|ANXA13|protein_coding|CODING|NM_001003954.1|11|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val272Ile/c.814G>A|316|ANXA13|protein_coding|CODING|NM_004306.2|10|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",Event_related_brain_oscillations,,,0.7434,0.6571,0.5577,0.68,0.87,0.58,,0.019842(N),1.000(P),"4.04,4.04(T,T)",0.0000(T),0.058,-0.703706,5.48,0.118,-0.381000,-0.161000,0.948000,0.675000,0.331000,1.000000,1.5591
missense_variant,FAM91A1,MISSENSE,NM_144963.2:p.Cys800Tyr/c.2399G>A,tGt/tAt,MODERATE,,0.998203,1,rs1946586,1(T),0.0(B),0(N),-0.7506(T),,chr8,124824826,124824826,G,A,hom,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys800Tyr/c.2399G>A|838|FAM91A1|protein_coding|CODING|NM_144963.2|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,0.993,0.99,1.00,0.99,,0.305606(N),1.000(P),1.58(T),0.0000(T),0.058,-2.629812,5.89,-11.8,-0.972000,-2.022000,-0.630000,0.036000,0.000000,0.000000,20.0996
synonymous_variant,FER1L6,SILENT,NM_001039112.2:p.Pro960Pro/c.2880T>C,ccT/ccC,LOW,,0.807907,0.6915,rs4483140,,,,,,chr8,125072426,125072426,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro960Pro/c.2880T>C|1857|FER1L6|protein_coding|CODING|NM_001039112.2|23|1),non_coding_exon_variant(MODIFIER|||n.703A>G||FER1L6-AS2||NON_CODING|NR_103547.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8252,0.7435,0.8718,0.86,0.87,0.86,,,,,,,,,,,,,,,,
missense_variant,FER1L6,MISSENSE,NM_001039112.2:p.Asp1110Glu/c.3330T>G,gaT/gaG,MODERATE,,0.773363,0.6716,rs7012186,1(T),0.0(B),0(N),-0.9528(T),,chr8,125076589,125076589,T,G,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp1110Glu/c.3330T>G|1857|FER1L6|protein_coding|CODING|NM_001039112.2|26|1),splice_region_variant(LOW|||c.3330T>G|1857|FER1L6|protein_coding|CODING|NM_001039112.2|26|1),intron_variant(MODIFIER|||n.96-3556A>C||FER1L6-AS2||NON_CODING|NR_103547.1|1|1)","HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8221,0.7089,0.8708,0.84,0.81,0.86,,,1.000(P),"-1.39,-1.39(T,T)",0.0000(T),0.015,-0.837956,4.62,-6.3,-1.482000,-2.111000,-0.307000,0.000000,0.000000,0.000000,0.5246
synonymous_variant,FER1L6,SILENT,NM_001039112.2:p.Pro1539Pro/c.4617G>A,ccG/ccA,LOW,,0.718051,0.6419,rs6470219,,,,,,chr8,125107201,125107201,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1539Pro/c.4617G>A|1857|FER1L6|protein_coding|CODING|NM_001039112.2|35|1),intron_variant(MODIFIER|||n.96-34168C>T||FER1L6-AS2||NON_CODING|NR_103547.1|1|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.819,0.683,0.8678,0.79,0.65,0.86,,,,,,,,,,,,,,,,
synonymous_variant,FER1L6,SILENT,NM_001039112.2:p.Val1541Val/c.4623C>T,gtC/gtT,LOW,,0.759585,0.6627,rs6470220,,,,,,chr8,125107207,125107207,C,T,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1541Val/c.4623C>T|1857|FER1L6|protein_coding|CODING|NM_001039112.2|35|1),intron_variant(MODIFIER|||n.96-34174G>A||FER1L6-AS2||NON_CODING|NR_103547.1|1|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.8211,0.7003,0.8728,0.83,0.76,0.86,,,,,,,,,,,,,,,,
missense_variant,TRMT12,MISSENSE,NM_017956.3:p.Trp28Arg/c.82T>C,Tgg/Cgg,MODERATE,COSM4162654(1),0.571086,0.4415,rs3812475,1(T),0.0(B),-2.045(N),-0.9630(T),,chr8,125463250,125463250,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp28Arg/c.82T>C|448|TRMT12|protein_coding|CODING|NM_017956.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HeLa-S3:H3K4me2,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Yy1,CD4:CTCF,CD4:H4K5ac,CD4:H3K4ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.5634,0.4798,0.495,0.55,0.69,0.47,,0.023680(N),1.000(P),1.13(T),0.0000(T),0.054,-0.891521,5.15,5.15,-0.215000,1.515000,0.518000,0.456000,0.923000,0.468000,10.5383
synonymous_variant,TRMT12,SILENT,NM_017956.3:p.Leu126Leu/c.376T>C,Ttg/Ctg,LOW,,0.189297,0.0982,rs11556913,,,,,,chr8,125463544,125463544,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu126Leu/c.376T>C|448|TRMT12|protein_coding|CODING|NM_017956.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me2,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1452,0.3429,0.3748,0.27,0.12,0.35,,,,,,,,,,,,,,,,
synonymous_variant,RNF139,SILENT,NM_007218.3:p.Tyr219Tyr/c.657C>T,taC/taT,LOW,COSM4162655(1),0.570887,0.4355,rs3812471,,,,,,chr8,125498547,125498547,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr219Tyr/c.657C>T|664|RNF139|protein_coding|CODING|NM_007218.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5593,0.4755,0.494,0.55,0.70,0.46,,,,,,,,,,,,,,,,
missense_variant,MTSS1,MISSENSE,NM_001282971.1:p.Thr729Ala/c.2185A>G,Act/Gct,MODERATE,COSM4162657(1),0.161741,0.1587,rs3829037,0.69(T),"0.001,0.002,0.002,0.001,0.001,0.004(B,B,B,B,B,B)",-0.35(N),-1.0974(T),,chr8,125565328,125565328,T,C,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr729Ala/c.2185A>G|759|MTSS1|protein_coding|CODING|NM_001282971.1|15|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr700Ala/c.2098A>G|730|MTSS1|protein_coding|CODING|NM_001282974.1|14|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr725Ala/c.2173A>G|755|MTSS1|protein_coding|CODING|NM_014751.5|14|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.1066,0.2366,0.19,0.15,0.22,,0.528165(N),1.000(P),"0.95,0.95,0.95,0.95,0.95,0.95,0.95(T,T,T,T,T,T,T)",0.0000(T),0.159,-0.898591,6.14,-4.85,-0.256000,-0.882000,0.096000,0.193000,0.000000,0.000000,19.5679
missense_variant,POU5F1B,MISSENSE,NM_001159542.1:p.Gly176Glu/c.527G>A,gGg/gAg,MODERATE,,0.373403,0.5565,rs6998061,0.05(D),0.759(P),2.445(M),-0.9361(T),,chr8,128428638,128428638,G,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly176Glu/c.527G>A|359|POU5F1B|protein_coding|CODING|NM_001159542.1|1|1),intron_variant(MODIFIER|||n.1176+4436C>T||CASC8||NON_CODING|NR_117100.1|5|1)","K562:H3K27me3,NHEK:H3K36me3",,,,0.453,0.3991,0.4314,0.33,0.14,0.41,,0.000108(D),0.000(P),"-1.65,-1.65(D,D)",0.0000(T),0.331,4.092755,1.14,1.14,0.134000,0.968000,4.714000,0.578000,0.997000,1.000000,8.3083
missense_variant,POU5F1B,MISSENSE,NM_001159542.1:p.Lys182Thr/c.545A>C,aAg/aCg,MODERATE,,0.222843,0.0585,rs13273814,1(T),0.001(B),-2.685(N),-1.0320(T),,chr8,128428656,128428656,A,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys182Thr/c.545A>C|359|POU5F1B|protein_coding|CODING|NM_001159542.1|1|1),intron_variant(MODIFIER|||n.1176+4418T>G||CASC8||NON_CODING|NR_117100.1|5|1)","K562:H3K27me3,NHEK:H3K36me3",,,,0.1022,0.1268,0.1958,,,,,0.000055(N),1.000(P),"-1.27,-1.27(T,T)",0.0000(T),0.131,-0.750342,1.14,-1.47,-1.396000,-1.120000,2.689000,0.378000,0.249000,0.999000,1.4592
missense_variant,POU5F1B,MISSENSE,NM_001159542.1:p.Asn214Asp/c.640A>G,Aat/Gat,MODERATE,COSM3982390(1),0.0658946,0.0575,rs13274084,0.02(D),0.009(B),2.305(M),-1.0128(T),,chr8,128428751,128428751,A,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn214Asp/c.640A>G|359|POU5F1B|protein_coding|CODING|NM_001159542.1|1|1),intron_variant(MODIFIER|||n.1176+4323T>C||CASC8||NON_CODING|NR_117100.1|5|1)","NHEK:H3K36me3,GM12878:DNase1",,,,0.0675,0.0793,0.1382,,,,,0.000033(D),0.990(P),"-1.24,-1.24(T,T)",0.0036(T),0.017,0.878897,1.14,-2.28,0.113000,-0.663000,0.874000,0.200000,0.008000,0.015000,3.5631
synonymous_variant,POU5F1B,SILENT,NM_001159542.1:p.Gln228Gln/c.684G>A,caG/caA,LOW,,0.509385,0.5982,rs62513968,,,,,,chr8,128428795,128428795,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln228Gln/c.684G>A|359|POU5F1B|protein_coding|CODING|NM_001159542.1|1|1),intron_variant(MODIFIER|||n.1176+4279C>T||CASC8||NON_CODING|NR_117100.1|5|1)","NHEK:H3K36me3,GM12878:DNase1",,,,0.5746,0.6124,0.5239,,,,,,,,,,,,,,,,,,,
missense_variant,POU5F1B,MISSENSE,NM_001159542.1:p.Glu238Gln/c.712G>C,Gag/Cag,MODERATE,,0.484026,0.5982,rs60346131,0.06(T),1.0(D),2.89(M),-1.0050(T),,chr8,128428823,128428823,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu238Gln/c.712G>C|359|POU5F1B|protein_coding|CODING|NM_001159542.1|1|1),intron_variant(MODIFIER|||n.1176+4251C>G||CASC8||NON_CODING|NR_117100.1|5|1)","NHEK:H3K36me3,GM12878:DNase1",,,,0.5675,0.6023,0.5239,,,,,0.000017(D),0.000(P),"-3.95,-3.95(D,D)",0.0000(T),0.29,2.880629,1.14,0.201,0.134000,0.077000,6.555000,0.267000,0.016000,1.000000,5.4549
missense_variant,GSDMC,MISSENSE,NM_031415.2:p.Met475Thr/c.1424T>C,aTg/aCg,MODERATE,COSM150539(3),0.707268,0.744,rs4144738,0(D),0.933(D),1.955(M),-1.1217(T),,chr8,130760850,130760850,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met475Thr/c.1424T>C|508|GSDMC|protein_coding|CODING|NM_031415.2|14|1),"HeLa-S3:DNase1,K562:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,NHEK:H3K36me3,HepG2:CTCF,IMR90:H3K27me3,H1ESC:CTCF",,,,0.6442,0.6427,0.4702,0.60,0.87,0.46,,0.124142(N),1.000(P),1.86(T),0.0000(T),0.153,2.805191,4.72,4.72,0.477000,1.997000,2.231000,0.172000,0.005000,0.005000,10.5105
synonymous_variant,FAM49B,SILENT,NM_001256763.1:p.Thr195Thr/c.585T>C,acT/acC,LOW,COSM3763045(1),0.0239617,0,rs1051893,,,,,,chr8,130864456,130864456,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr195Thr/c.585T>C|324|FAM49B|protein_coding|CODING|NM_001256763.1|9|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr195Thr/c.585T>C|324|FAM49B|protein_coding|CODING|NM_016623.4|8|1),non_coding_exon_variant(MODIFIER|||n.1252T>C||FAM49B||CODING|NR_046359.1|11|1),non_coding_exon_variant(MODIFIER|||n.1162T>C||FAM49B||CODING|NR_046360.1|11|1),non_coding_exon_variant(MODIFIER|||n.1152T>C||FAM49B||CODING|NR_046361.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0187,0.0765,0.05,0.02,0.06,,,,,,,,,,,,,,,,
missense_variant,ASAP1,MISSENSE,NM_018482.3:p.Ile728Val/c.2182A>G,Atc/Gtc,MODERATE,COSM150541(1),0.474441,0.7153,rs386624153,0.78(T),"0.002,0.002,0.004(B,B,B)",0.625(N),-0.9818(T),,chr8,131124559,131124559,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile721Val/c.2161A>G|1122|ASAP1|protein_coding|CODING|NM_001247996.1|25|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile728Val/c.2182A>G|1129|ASAP1|protein_coding|CODING|NM_018482.3|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6493,0.3689,0.4642,0.40,0.28,0.46,,0.005154(N),0.099(P),"3.45,3.45(T,T)",0.0000(T),0.077,0.348337,5.96,-0.54,0.533000,-0.300000,0.633000,0.989000,0.034000,0.302000,9.8396
missense_variant,ADCY8,MISSENSE,NM_001115.2:p.Ala80Thr/c.238G>A,Gcg/Acg,MODERATE,,0.0179712,0,rs2228949,0.59(T),"0.012,0.012(B,B)",1.1(L),-1.0667(T),,chr8,132052342,132052342,C,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala80Thr/c.238G>A|1251|ADCY8|protein_coding|CODING|NM_001115.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0419,0.0187,0.0338,0.02,0.01,0.03,,0.001630(N),0.839(N),"-0.18,-0.18(T,T)",0.0311(T),0.176,3.716491,4.55,4.55,0.462000,2.383000,1.772000,0.974000,1.000000,1.000000,6.3928
missense_variant,EFR3A,MISSENSE,NM_015137.4:p.Asn365Asp/c.1093A>G,Aac/Gac,MODERATE,COSM4006844(1),0.448882,0.3125,rs1051221,0.11(T),0.038(B),0.69(N),-0.9027(T),,chr8,132982824,132982824,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn365Asp/c.1093A>G|821|EFR3A|protein_coding|CODING|NM_015137.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3865,0.5,0.5089,0.50,0.53,0.49,,0.341810(N),1.000(P),"1.47,1.47,1.47(T,T,T)",0.0000(T),0.031,0.737328,5.68,-1.11,0.477000,-0.399000,0.548000,0.358000,0.001000,0.062000,5.6
synonymous_variant,OC90,SILENT,NM_001080399.2:p.His230His/c.690C>T,caC/caT,LOW,,0.261382,0.2629,rs11779306,,,,,,chr8,133047071,133047071,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His230His/c.690C>T|477|OC90|protein_coding|CODING|NM_001080399.2|10|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3",,,,0.3374,0.2522,0.3101,0.28,0.18,0.33,,,,,,,,,,,,,,,,
missense_variant,OC90,MISSENSE,NM_001080399.2:p.Ser147Gly/c.439A>G,Agc/Ggc,MODERATE,COSM4006845(2),0.73762,0.7728,rs7386782,0.45(T),"0.001,0.001(B,B)",0.865(L),-1.0349(T),,chr8,133053309,133053309,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser147Gly/c.439A>G|477|OC90|protein_coding|CODING|NM_001080399.2|6|1),,,,,0.7178,0.7709,0.7137,0.73,0.75,0.72,,0.417551(N),1.000(P),"1.68,1.68,1.68(T,T,T)",0.0000(T),0.03,-1.114847,5.64,0.415,-1.290000,-0.102000,-0.175000,0.014000,0.028000,0.007000,5.0499
missense_variant,OC90,MISSENSE,NM_001080399.2:p.Asn144Asp/c.430A>G,Aat/Gat,MODERATE,COSM4006848(2),0.73742,0.7728,rs7386783,0.96(T),"0.002,0.002(B,B)",0.28(N),-0.9640(T),,chr8,133053318,133053318,T,C,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn144Asp/c.430A>G|477|OC90|protein_coding|CODING|NM_001080399.2|6|1),,,,,0.7168,0.7709,0.7137,0.73,0.75,0.72,,0.175810(N),1.000(P),"1.75,1.75,1.75(T,T,T)",0.0000(T),0.002,-1.786793,5.64,1.15,-0.186000,-0.034000,0.246000,0.011000,0.140000,0.770000,5.147
missense_variant,HHLA1,MISSENSE,NM_001145095.1:p.Leu390Ser/c.1169T>C,tTg/tCg,MODERATE,,0.745407,0.6706,rs2280851,0.73(T),"0.0,0.0(B,B)",-0.975(N),-1.0098(T),,chr8,133089975,133089975,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu390Ser/c.1169T>C|531|HHLA1|protein_coding|CODING|NM_001145095.1|11|1),splice_region_variant(LOW|||c.1169T>C|531|HHLA1|protein_coding|CODING|NM_001145095.1|11|1)",GM06990:H3K27me3,,,,0.7638,0.7968,0.7634,0.76,0.76,0.76,,,1.000(P),1.77(T),0.0000(T),0.025,-1.142890,4.87,3.06,-0.799000,0.341000,0.793000,0.002000,0.025000,0.676000,5.7681
missense_variant,HHLA1,MISSENSE,NM_001145095.1:p.Pro251Leu/c.752C>T,cCc/cTc,MODERATE,COSM150545(2),0.25639,0.1984,rs2403730,0.33(T),"0.001,0.005(B,B)",0.695(N),-0.9289(T),,chr8,133092138,133092138,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro251Leu/c.752C>T|531|HHLA1|protein_coding|CODING|NM_001145095.1|10|1),"GM12878:H3K27me3,HepG2:H3K27me3",,,,0.2945,0.389,0.3032,0.29,0.21,0.32,,,1.000(P),,0.0000(T),0.208,1.468091,4.82,-0.714,-0.142000,-0.034000,-0.195000,0.005000,0.000000,0.000000,0.6554
synonymous_variant,HHLA1,SILENT,NM_001145095.1:p.Ile159Ile/c.477C>T,atC/atT,LOW,COSM4162673(1),0.864417,0.7292,rs6471038,,,,,,chr8,133101818,133101818,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile159Ile/c.477C>T|531|HHLA1|protein_coding|CODING|NM_001145095.1|7|1),,,,,0.9294,0.9078,0.9364,0.92,0.88,0.94,,,,,,,,,,,,,,,,
synonymous_variant,HHLA1,SILENT,NM_001145095.1:p.Val128Val/c.384A>G,gtA/gtG,LOW,,0.86901,0.7292,rs7833441,,,,,,chr8,133107830,133107830,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val128Val/c.384A>G|531|HHLA1|protein_coding|CODING|NM_001145095.1|6|1),,,,,0.9305,0.9121,0.9533,0.93,0.88,0.95,,,,,,,,,,,,,,,,
missense_variant,KCNQ3,MISSENSE,NM_004519.3:p.Glu414Gly/c.1241A>G,gAa/gGa,MODERATE,,0.0465256,0.1627,rs2303995,0.07(T),"0.05,0.034(B,B)",1.385(L),-0.4846(T),,chr8,133175736,133175736,T,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu294Gly/c.881A>G|752|KCNQ3|protein_coding|CODING|NM_001204824.1|9|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu414Gly/c.1241A>G|872|KCNQ3|protein_coding|CODING|NM_004519.3|9|1)",,,RCV000020595.1|RCV000117352.2|RCV000126486.1,,0.0235,0.0245,0.0249,0.02,0.00,0.02,,0.575661(N),0.272(P),"-5.41,-5.37,-5.45(D,D,D)",0.0235(T),0.317,2.554167,4.57,4.57,0.533000,2.014000,3.528000,0.963000,1.000000,1.000000,10.897
missense_variant,LRRC6,MISSENSE,NM_012472.4:p.Thr232Ile/c.695C>T,aCa/aTa,MODERATE,,0.486222,0.2827,rs2293979,0.23(T),0.0(B),-0.69(N),-0.9998(T),,chr8,133637659,133637659,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr232Ile/c.695C>T|466|LRRC6|protein_coding|CODING|NM_012472.4|6|1),non_coding_exon_variant(MODIFIER|||n.819C>T||LRRC6||CODING|NR_073525.1|6|1)",,,,,0.3722,0.3199,0.3777,0.56,0.82,0.42,,0.310545(N),1.000(P),"0.76,0.61,0.76(T,T,T)",0.0000(T),0.02,0.522900,5.07,-9.57,-3.279000,-2.791000,-2.791000,0.001000,0.000000,0.000000,2.7647
synonymous_variant,TG,SILENT,NM_003235.4:p.His1043His/c.3129C>T,caC/caT,LOW,,0.00139776,0,rs112300885,,,,-0.9542(T),,chr8,133910021,133910021,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1043His/c.3129C>T|2768|TG|protein_coding|CODING|NM_003235.4|12|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0,0,0.007,0.00,0.00,0.01,,,0.998(N),,0.0928(T),.,-0.111528,5.48,-5.53,-0.812000,-1.069000,-2.439000,0.033000,0.001000,0.000000,16.7399
missense_variant,TG,MISSENSE,NM_003235.4:p.Asp1312Gly/c.3935A>G,gAt/gGt,MODERATE,COSM1454960(2),0.398762,0.3571,rs2069556,1(T),0.0(B),-1.79(N),-0.9409(T),,chr8,133920518,133920518,A,G,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp1312Gly/c.3935A>G|2768|TG|protein_coding|CODING|NM_003235.4|18|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5337,0.5836,0.6093,0.46,0.16,0.62,,0.000155(N),0.007(P),"0.21,0.19(T,T)",0.0000(T),0.091,-1.490680,5.47,5.47,-0.128000,1.325000,4.289000,0.001000,0.072000,1.000000,10.5261
synonymous_variant,TG,SILENT,NM_003235.4:p.Ala1502Ala/c.4506T>C,gcT/gcC,LOW,COSM150549(2),0.473842,0.3542,rs853304,,,,-0.9681(T),,chr8,133931748,133931748,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1502Ala/c.4506T>C|2768|TG|protein_coding|CODING|NM_003235.4|21|1),GM12878:H3K27me3,,,,0.5327,0.6052,0.6074,0.54,0.40,0.61,,,0.000(P),,0.0000(T),.,-0.930702,5.39,-5.82,-3.029000,-1.170000,-0.618000,0.086000,0.003000,0.000000,7.4268
missense_variant,TG,MISSENSE,NM_003235.4:p.Asp1838Asn/c.5512G>A,Gac/Aac,MODERATE,COSM150550(2),0.346845,0.3452,rs2069561,0.06(T),"0.008,0.003(B,B)",1.87(L),-0.9081(T),,chr8,133975283,133975283,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp1838Asn/c.5512G>A|2768|TG|protein_coding|CODING|NM_003235.4|29|1),,,,,0.4785,0.5259,0.5089,0.38,0.12,0.51,,0.069558(N),1.000(P),"-0.03,-0.03,-0.24(T,T,T)",0.0000(T),0.037,1.071724,4.41,1.66,-0.251000,0.374000,0.528000,0.001000,0.000000,0.000000,6.41
missense_variant,TG,MISSENSE,NM_003235.4:p.Trp2501Arg/c.7501T>C,Tgg/Cgg,MODERATE,COSM3763048(2),0.522364,0.2302,rs2069569,,,-0.935(N),-0.9997(T),,chr8,134108546,134108546,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp2501Arg/c.7501T>C|2768|TG|protein_coding|CODING|NM_003235.4|43|1),intron_variant(MODIFIER|||c.-264+6251A>G|168|SLA|protein_coding|CODING|NM_001282965.1|1|1),intron_variant(MODIFIER|||c.11+6251A>G|293|SLA|protein_coding|CODING|NM_001045557.2|1|1),intron_variant(MODIFIER|||c.11+6251A>G|249|SLA|protein_coding|CODING|NM_001282964.1|1|1),intron_variant(MODIFIER|||c.-319+6251A>G|276|SLA|protein_coding|CODING|NM_001045556.2|1|1)","GM06990:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.41,0.5086,0.5328,0.61,0.79,0.53,,,1.000(P),,0.0000(T),.,-1.494739,5.26,2.0,-0.716000,0.197000,-0.018000,0.000000,0.000000,0.000000,5.2901
synonymous_variant,TG,SILENT,NM_003235.4:p.Tyr2640Tyr/c.7920C>T,taC/taT,LOW,COSM150551(2),0.405351,0.1657,rs2294024,,,,,,chr8,134144113,134144113,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2640Tyr/c.7920C>T|2768|TG|protein_coding|CODING|NM_003235.4|46|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2618,0.4928,0.4841,0.52,0.58,0.49,,,1.000(P),,,.,0.438787,5.32,0.0514,0.491000,0.254000,-0.075000,0.986000,0.013000,0.002000,4.8924
synonymous_variant,ST3GAL1,SILENT,NM_003033.3:p.Ser273Ser/c.819G>A,tcG/tcA,LOW,COSM4162679(1),0.479633,0.4375,rs1048479,,,,,,chr8,134474148,134474148,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser273Ser/c.819G>A|340|ST3GAL1|protein_coding|CODING|NM_003033.3|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser273Ser/c.819G>A|340|ST3GAL1|protein_coding|CODING|NM_173344.2|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4959,0.6758,0.5179,0.45,0.39,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ZFAT,SILENT,NM_020863.3:p.Ala1128Ala/c.3384C>T,gcC/gcT,LOW,COSM3763049(1),0.102636,0.0397,rs11778717,,,,,,chr8,135521970,135521970,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1116Ala/c.3348C>T|1231|ZFAT|protein_coding|CODING|NM_001029939.3|16|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1116Ala/c.3348C>T|1231|ZFAT|protein_coding|CODING|NM_001167583.2|15|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1066Ala/c.3198C>T|1181|ZFAT|protein_coding|CODING|NM_001174157.1|14|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1116Ala/c.3348C>T|1231|ZFAT|protein_coding|CODING|NM_001289394.1|16|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1128Ala/c.3384C>T|1243|ZFAT|protein_coding|CODING|NM_020863.3|15|1),intron_variant(MODIFIER|||c.3198+11156C>T|1145|ZFAT|protein_coding|CODING|NM_001174158.1|13|1),non_coding_exon_variant(MODIFIER|||n.3736C>T||ZFAT||CODING|NR_110323.1|16|1)","GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1503,0.1326,0.1948,0.14,0.05,0.18,,,,,,,,,,,,,,,,
synonymous_variant,FAM135B,SILENT,NM_015912.3:p.Pro842Pro/c.2526C>T,ccC/ccT,LOW,,0.371805,0.5298,rs3750306,,,,,,chr8,139164192,139164192,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro842Pro/c.2526C>T|1406|FAM135B|protein_coding|CODING|NM_015912.3|13|1),,,,,0.4274,0.4207,0.3757,0.31,0.22,0.35,,,,,,,,,,,,,,,,
synonymous_variant,FAM135B,SILENT,NM_015912.3:p.Val550Val/c.1650G>A,gtG/gtA,LOW,COSM4162686(1),0.364417,0.5298,rs3763590,,,,,,chr8,139165068,139165068,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val550Val/c.1650G>A|1406|FAM135B|protein_coding|CODING|NM_015912.3|13|1),H1ESC:H3K36me3,,,,0.4284,0.4135,0.3757,0.29,0.19,0.34,,,,,,,,,,,,,,,,
synonymous_variant,FAM135B,SILENT,NM_015912.3:p.Pro482Pro/c.1446A>G,ccA/ccG,LOW,,0.720847,0.7718,rs7835712,,,,,,chr8,139165272,139165272,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro482Pro/c.1446A>G|1406|FAM135B|protein_coding|CODING|NM_015912.3|13|1),H1ESC:H3K36me3,,,,0.7331,0.7464,0.6869,0.68,0.71,0.67,,,,,,,,,,,,,,,,
missense_variant,FAM135B,MISSENSE,NM_015912.3:p.Pro482Leu/c.1445C>T,cCa/cTa,MODERATE,,0.360224,0.5298,rs13280444,0.76(T),"0.003,0.002,0.0(B,B,B)",1.87(L),-0.9110(T),,chr8,139165273,139165273,G,A,hom,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro482Leu/c.1445C>T|1406|FAM135B|protein_coding|CODING|NM_015912.3|13|1),H1ESC:H3K36me3,,,,0.4284,0.415,0.3757,0.29,0.18,0.34,,0.059783(N),1.000(P),2.54(T),0.0000(T),0.039,0.113469,5.75,0.762,-0.940000,0.073000,0.461000,0.000000,0.000000,0.001000,3.4649
missense_variant,FAM135B,MISSENSE,NM_015912.3:p.Ile477Val/c.1429A>G,Ata/Gta,MODERATE,,0.718251,0.7718,rs7835830,0.46(T),"0.004,0.002,0.0(B,B,B)",0.895(L),-0.9830(T),,chr8,139165289,139165289,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile477Val/c.1429A>G|1406|FAM135B|protein_coding|CODING|NM_015912.3|13|1),H1ESC:H3K36me3,,,,0.7311,0.7435,0.6869,0.68,0.70,0.67,,0.001280(N),1.000(P),2.58(T),0.0000(T),0.021,-0.467949,5.3,-2.29,0.533000,-0.180000,-1.417000,0.007000,0.000000,0.000000,4.4732
synonymous_variant,COL22A1,SILENT,NM_152888.1:p.Pro1200Pro/c.3600T>C,ccT/ccC,LOW,,0.709864,0.8998,rs10091563,,,,,,chr8,139647262,139647262,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1200Pro/c.3600T>C|1626|COL22A1|protein_coding|CODING|NM_152888.1|49|1),,,,,0.7086,0.7421,0.8529,0.73,0.51,0.85,,,,,,,,,,,,,,,,
missense_variant,COL22A1,MISSENSE,NM_152888.1:p.Ala938Asp/c.2813C>A,gCt/gAt,MODERATE,,0.291733,0.1835,rs4909444,0.59(T),"0.017,0.007(B,B)",0.04(N),-1.0356(T),,chr8,139701209,139701209,G,T,hom,missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala938Asp/c.2813C>A|1626|COL22A1|protein_coding|CODING|NM_152888.1|37|1),,,,,0.3988,0.3012,0.34,0.31,0.29,0.33,,0.967174(U),1.000(P),"-3.23,-3.23(D,D)",0.0000(T),0.028,-0.796225,3.63,2.74,0.542000,2.017000,1.251000,0.153000,0.361000,0.034000,6.2583
synonymous_variant,COL22A1,SILENT,NM_152888.1:p.Cys478Cys/c.1434C>T,tgC/tgT,LOW,COSM4006854(1),0.480631,0.5694,rs10101430,,,,,,chr8,139824057,139824057,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys478Cys/c.1434C>T|1626|COL22A1|protein_coding|CODING|NM_152888.1|9|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.4417,0.4438,0.5527,0.50,0.42,0.54,,,,,,,,,,,,,,,,
missense_variant,COL22A1,MISSENSE,NM_152888.1:p.Ser320Gly/c.958A>G,Agc/Ggc,MODERATE,,0.83147,0.7599,rs2292927,,0.0(B),-2.69(N),-0.9911(T),,chr8,139838912,139838912,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser320Gly/c.958A>G|1626|COL22A1|protein_coding|CODING|NM_152888.1|6|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.8834,0.8156,0.8091,0.83,0.87,0.81,,0.000202(N),0.966(P),"2.33,2.33(T,T)",0.0000(T),0.094,1.122994,5.21,5.21,-0.134000,1.227000,5.956000,0.953000,0.952000,1.000000,13.1835
synonymous_variant,KCNK9,SILENT,NM_001282534.1:p.Gly212Gly/c.636T>C,ggT/ggC,LOW,,0.723043,0.6984,rs2615374,,,,,,chr8,140630990,140630990,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly212Gly/c.636T>C|374|KCNK9|protein_coding|CODING|NM_001282534.1|2|1),non_coding_exon_variant(MODIFIER|||n.700T>C||KCNK9||CODING|NR_104210.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6636,0.6571,0.6431,0.70,0.84,0.63,,,,,,,,,,,,,,,,
synonymous_variant,TRAPPC9,SILENT,NM_031466.6:p.Asn235Asn/c.705C>T,aaC/aaT,LOW,,0.466653,0.5179,rs3735803,,,,,,chr8,141461062,141461062,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn137Asn/c.411C>T|1148|TRAPPC9|protein_coding|CODING|NM_001160372.2|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn235Asn/c.705C>T|1246|TRAPPC9|protein_coding|CODING|NM_031466.6|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118685.2,,0.5266,0.3372,0.4791,0.46,0.42,0.49,,,,,,,,,,,,,,,,
synonymous_variant,TRAPPC9,SILENT,NM_031466.6:p.Phe194Phe/c.582T>C,ttT/ttC,LOW,,0.538938,0.5347,rs3735802,,,,,,chr8,141461185,141461185,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe96Phe/c.288T>C|1148|TRAPPC9|protein_coding|CODING|NM_001160372.2|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe194Phe/c.582T>C|1246|TRAPPC9|protein_coding|CODING|NM_031466.6|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118681.2,,0.5798,0.4121,0.5586,0.57,0.56,0.57,,,,,,,,,,,,,,,,
synonymous_variant,TRAPPC9,SILENT,NM_031466.6:p.Gly167Gly/c.501T>C,ggT/ggC,LOW,,0.537939,0.5347,rs3735801,,,,,,chr8,141461266,141461266,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly69Gly/c.207T>C|1148|TRAPPC9|protein_coding|CODING|NM_001160372.2|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly167Gly/c.501T>C|1246|TRAPPC9|protein_coding|CODING|NM_031466.6|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118680.2,,0.5746,0.4121,0.5586,0.57,0.56,0.57,,,,,,,,,,,,,,,,
missense_variant,GPR20,MISSENSE,NM_005293.2:p.His230Arg/c.689A>G,cAc/cGc,MODERATE,COSM3763064(5),0.756789,0.5099,rs10875472,0.68(T),0.001(B),0.045(N),-0.9784(T),,chr8,142367335,142367335,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His230Arg/c.689A>G|358|GPR20|protein_coding|CODING|NM_005293.2|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.7413,0.8573,0.8171,0.83,0.87,0.81,,0.028347(N),1.000(P),-0.51(T),0.0000(T),0.003,-1.687029,4.77,-0.0371,-0.355000,-0.170000,0.938000,0.056000,0.989000,0.998000,1.3483
synonymous_variant,GPR20,SILENT,NM_005293.2:p.Pro208Pro/c.624C>T,ccC/ccT,LOW,COSM454108(12),0.752796,0.5099,rs11167054,,,,,,chr8,142367400,142367400,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro208Pro/c.624C>T|358|GPR20|protein_coding|CODING|NM_005293.2|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.727,0.8573,0.8171,0.83,0.87,0.81,,,,,,,,,,,,,,,,
synonymous_variant,GPR20,SILENT,NM_005293.2:p.Pro155Pro/c.465C>T,ccC/ccT,LOW,,0.601238,0.5099,rs11785629,,,,,,chr8,142367559,142367559,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro155Pro/c.465C>T|358|GPR20|protein_coding|CODING|NM_005293.2|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6789,0.7277,0.7237,0.63,0.51,0.69,,,,,,,,,,,,,,,,
missense_variant,MROH5,MISSENSE,NM_207414.2:p.Gly1088Ser/c.3262G>A,Ggc/Agc,MODERATE,,0.321086,0.2698,rs11782383,,,,,,chr8,142446923,142446923,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1088Ser/c.3262G>A|1318|MROH5|protein_coding|CODING|NM_207414.2|25|1),intron_variant(MODIFIER|||n.3235-755G>A||MROH5||CODING|NR_102364.2|23|1),non_coding_exon_variant(MODIFIER|||n.3003G>A||MROH5||CODING|NR_102363.2|23|1)","K562:PolII,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4346,0.2839,0.4304,0.36,0.22,0.44,,,,,,,,,,,,,,,,
stop_lost,MROH5,MISSENSE,NM_207414.2:p.Ter925Glnext*?/c.2773T>C,Tag/Cag,HIGH,COSM454109(1),0.346446,0.2996,rs6578185,,,,,,chr8,142458053,142458053,A,G,het,"stop_lost(HIGH|MISSENSE|Tag/Cag|p.Ter925Glnext*?/c.2773T>C|1318|MROH5|protein_coding|CODING|NM_207414.2|21|1),non_coding_exon_variant(MODIFIER|||n.2514T>C||MROH5||CODING|NR_102363.2|19|1),non_coding_exon_variant(MODIFIER|||n.2785T>C||MROH5||CODING|NR_102364.2|20|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4376,0.2997,0.4742,0.41,0.25,0.48,,,,,,,,,,,,,,,,
synonymous_variant,MROH5,SILENT,NM_207414.2:p.Ser863Ser/c.2589C>T,agC/agT,LOW,,0.0459265,0,rs76221513,,,,,,chr8,142459738,142459738,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser863Ser/c.2589C>T|1318|MROH5|protein_coding|CODING|NM_207414.2|20|1),non_coding_exon_variant(MODIFIER|||n.2330C>T||MROH5||CODING|NR_102363.2|18|1),non_coding_exon_variant(MODIFIER|||n.2601C>T||MROH5||CODING|NR_102364.2|19|1)","GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0184,0.0389,0.0557,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,MROH5,SILENT,NM_207414.2:p.Leu844Leu/c.2532G>C,ctG/ctC,LOW,,0.0555112,0,rs79669517,,,,,,chr8,142459795,142459795,C,G,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu844Leu/c.2532G>C|1318|MROH5|protein_coding|CODING|NM_207414.2|20|1),non_coding_exon_variant(MODIFIER|||n.2273G>C||MROH5||CODING|NR_102363.2|18|1),non_coding_exon_variant(MODIFIER|||n.2544G>C||MROH5||CODING|NR_102364.2|19|1)","GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0184,0.0403,0.0557,0.07,0.10,0.05,,,,,,,,,,,,,,,,
missense_variant,MROH5,MISSENSE,NM_207414.2:p.Gly838Glu/c.2513G>A,gGg/gAg,MODERATE,COSM4162700(1),0.994808,0.9742,rs7003306,,,,,,chr8,142459814,142459814,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly838Glu/c.2513G>A|1318|MROH5|protein_coding|CODING|NM_207414.2|20|1),non_coding_exon_variant(MODIFIER|||n.2254G>A||MROH5||CODING|NR_102363.2|18|1),non_coding_exon_variant(MODIFIER|||n.2525G>A||MROH5||CODING|NR_102364.2|19|1)","GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,MROH5,SILENT,NM_207414.2:p.Ser470Ser/c.1410T>C,agT/agC,LOW,COSM1455228(1),0.0181709,0,rs74526628,,,,,,chr8,142487538,142487538,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser470Ser/c.1410T>C|1318|MROH5|protein_coding|CODING|NM_207414.2|12|1),non_coding_exon_variant(MODIFIER|||n.1377T>C||MROH5||CODING|NR_102363.2|11|1),non_coding_exon_variant(MODIFIER|||n.1518T>C||MROH5||CODING|NR_102364.2|12|1)","K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0164,0.036,0.0447,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,MROH5,SILENT,NM_207414.2:p.Asn302Asn/c.906C>T,aaC/aaT,LOW,,0.935703,0.9921,rs2613641,,,,,,chr8,142490079,142490079,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn302Asn/c.906C>T|1318|MROH5|protein_coding|CODING|NM_207414.2|8|1),non_coding_exon_variant(MODIFIER|||n.805C>T||MROH5||CODING|NR_102363.2|7|1),non_coding_exon_variant(MODIFIER|||n.946C>T||MROH5||CODING|NR_102364.2|8|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9949,0.9798,0.999,0.94,0.81,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MROH5,SILENT,NM_207414.2:p.Pro284Pro/c.852T>G,ccT/ccG,LOW,,0.0321486,0,rs79609073,,,,,,chr8,142490447,142490447,A,C,het,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro284Pro/c.852T>G|1318|MROH5|protein_coding|CODING|NM_207414.2|7|1),non_coding_exon_variant(MODIFIER|||n.751T>G||MROH5||CODING|NR_102363.2|6|1),non_coding_exon_variant(MODIFIER|||n.892T>G||MROH5||CODING|NR_102364.2|7|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0164,0.0447,0.0447,0.05,0.05,0.05,,,,,,,,,,,,,,,,
missense_variant,MROH5,MISSENSE,NM_207414.2:p.Ser190Asn/c.569G>A,aGc/aAc,MODERATE,COSM454111(3),0.110823,0.1994,rs75295956,,,,,,chr8,142500345,142500345,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser190Asn/c.569G>A|1318|MROH5|protein_coding|CODING|NM_207414.2|5|1),non_coding_exon_variant(MODIFIER|||n.468G>A||MROH5||CODING|NR_102363.2|4|1),non_coding_exon_variant(MODIFIER|||n.468G>A||MROH5||CODING|NR_102364.2|4|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0849,0.0476,0.0845,0.09,0.10,0.08,,,,,,,,,,,,,,,,
splice_acceptor_variant,MROH5,protein_coding,NM_207414.2:c.409A>G,,HIGH,COSN168446,0.79373,0.6657,rs6578193,,,,,MROH5:0.33(3);,chr8,142505038,142505038,T,C,het,"splice_acceptor_variant(HIGH|||c.409A>G|1318|MROH5|protein_coding|CODING|NM_207414.2|4|1),splice_acceptor_variant(HIGH|||n.308A>G||MROH5||CODING|NR_102363.2|3|1),splice_acceptor_variant(HIGH|||n.308A>G||MROH5||CODING|NR_102364.2|3|1),intron_variant(MODIFIER|||c.409-1A>G|1318|MROH5|protein_coding|CODING|NM_207414.2|3|1),intron_variant(MODIFIER|||n.308-1A>G||MROH5||CODING|NR_102363.2|2|1),intron_variant(MODIFIER|||n.308-1A>G||MROH5||CODING|NR_102364.2|2|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8865,0.8415,0.7873,0.78,0.79,0.77,,,,,,.,2.602170,4.46,4.46,-0.215000,1.194000,1.400000,0.604000,0.995000,1.000000,9.2849
missense_variant,MROH5,MISSENSE,NM_207414.2:p.Tyr10His/c.28T>C,Tac/Cac,MODERATE,COSM4162708(1),0.368211,0.3859,rs2748421,,,,,,chr8,142517222,142517222,A,G,het,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr10His/c.28T>C|1318|MROH5|protein_coding|CODING|NM_207414.2|1|1),non_coding_exon_variant(MODIFIER|||n.109T>C||MROH5||CODING|NR_102363.2|1|1),non_coding_exon_variant(MODIFIER|||n.109T>C||MROH5||CODING|NR_102364.2|1|1)","GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4192,0.3127,0.4781,0.39,0.26,0.46,,,,,,,,,,,,,,,,
missense_variant,MROH5,MISSENSE,NM_207414.2:p.Arg8Lys/c.23G>A,aGg/aAg,MODERATE,COSM4162710(1),0.368211,0.3859,rs2613648,,,,,,chr8,142517227,142517227,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg8Lys/c.23G>A|1318|MROH5|protein_coding|CODING|NM_207414.2|1|1),non_coding_exon_variant(MODIFIER|||n.104G>A||MROH5||CODING|NR_102363.2|1|1),non_coding_exon_variant(MODIFIER|||n.104G>A||MROH5||CODING|NR_102364.2|1|1)","GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4192,0.3127,0.4781,0.39,0.26,0.46,,,,,,,,,,,,,,,,
synonymous_variant,BAI1,SILENT,NM_001702.2:p.Cys519Cys/c.1557C>T,tgC/tgT,LOW,,,,,,,,,,chr8,143559717,143559717,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys519Cys/c.1557C>T|1584|BAI1|protein_coding|CODING|NM_001702.2|6|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,BAI1,SILENT,NM_001702.2:p.Ala1039Ala/c.3117G>C,gcG/gcC,LOW,,0.903754,0.9623,rs7460600,,,,,,chr8,143603418,143603418,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala1039Ala/c.3117G>C|1584|BAI1|protein_coding|CODING|NM_001702.2|20|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.954,0.9611,0.9821,0.91,0.78,0.98,,,,,,,,,,,,,,,,
synonymous_variant,ARC,SILENT,NM_015193.4:p.Arg286Arg/c.858C>G,cgC/cgG,LOW,COSM3763068(4),0.500599,0.3948,rs28686812,,,,,,chr8,143694775,143694775,G,C,hom,synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg286Arg/c.858C>G|396|ARC|protein_coding|CODING|NM_015193.4|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5204,0.4928,0.508,0.51,0.54,0.49,,,,,,,,,,,,,,,,
missense_variant,JRK,MISSENSE,NM_003724.3:p.Gly476Arg/c.1426G>A,Gga/Aga,MODERATE,,0.440895,0.4841,rs2976399,,,,,,chr8,143746050,143746050,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly476Arg/c.1426G>A|568|JRK|protein_coding|CODING|NM_003724.3|3|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly476Arg/c.1426G>A|556|JRK|protein_coding|CODING|NM_001077527.2|3|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly476Arg/c.1426G>A|556|JRK|protein_coding|CODING|NM_001279352.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5644,0.2925,0.3469,0.36,0.43,0.33,,,,,,,,,,,,,,,,
synonymous_variant,JRK,SILENT,NM_003724.3:p.Pro469Pro/c.1407A>G,ccA/ccG,LOW,,0.532348,0.5188,rs3735999,,,,,,chr8,143746069,143746069,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro469Pro/c.1407A>G|568|JRK|protein_coding|CODING|NM_003724.3|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro469Pro/c.1407A>G|556|JRK|protein_coding|CODING|NM_001077527.2|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro469Pro/c.1407A>G|556|JRK|protein_coding|CODING|NM_001279352.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.59,0.3213,0.3926,0.46,0.62,0.38,,,,,,,,,,,,,,,,
synonymous_variant,JRK,SILENT,NM_003724.3:p.His354His/c.1062T>C,caT/caC,LOW,,0.533347,0.5188,rs754957,,,,,,chr8,143746416,143746416,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His354His/c.1062T>C|556|JRK|protein_coding|CODING|NM_001077527.2|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His354His/c.1062T>C|556|JRK|protein_coding|CODING|NM_001279352.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His354His/c.1062T>C|568|JRK|protein_coding|CODING|NM_003724.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.591,0.3213,0.3917,0.45,0.62,0.37,,,,,,,,,,,,,,,,
synonymous_variant,JRK,SILENT,NM_003724.3:p.Asn259Asn/c.777T>C,aaT/aaC,LOW,,0.526957,0.5188,rs3802232,,,,,,chr8,143746701,143746701,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn259Asn/c.777T>C|556|JRK|protein_coding|CODING|NM_001077527.2|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn259Asn/c.777T>C|556|JRK|protein_coding|CODING|NM_001279352.1|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn259Asn/c.777T>C|568|JRK|protein_coding|CODING|NM_003724.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:Nrsf,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5634,0.3213,0.3907,0.44,0.58,0.36,,,,,,,,,,,,,,,,
synonymous_variant,JRK,SILENT,NM_003724.3:p.Ser69Ser/c.207G>C,tcG/tcC,LOW,,0.396366,0.4821,rs2978973,,,,,,chr8,143747271,143747271,C,G,hom,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser69Ser/c.207G>C|556|JRK|protein_coding|CODING|NM_001077527.2|2|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser69Ser/c.207G>C|556|JRK|protein_coding|CODING|NM_001279352.1|2|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser69Ser/c.207G>C|568|JRK|protein_coding|CODING|NM_003724.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5378,0.2781,0.3459,0.32,0.31,0.33,,,,,,,,,,,,,,,,
synonymous_variant,PSCA,SILENT,NM_005672.4:p.Ala95Ala/c.285T>C,gcT/gcC,LOW,COSM3763069(3),0.405351,0.3413,rs2978982,,,,,,chr8,143763490,143763490,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala95Ala/c.285T>C|114|PSCA|protein_coding|CODING|NM_005672.4|3|1),non_coding_exon_variant(MODIFIER|||n.521T>C||PSCA||CODING|NR_033343.1|3|1)","HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,HeLa-S3:H3K9ac,HeLa-S3:TAF1,K562:USF1,HSMM:DNase1,NH-A:DNase1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HeLa-S3:Cfos,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.407,0.5072,0.4473,0.43,0.40,0.45,,,,,,,,,,,,,,,,
synonymous_variant,PSCA,SILENT,NM_005672.4:p.Leu114Leu/c.342C>A,ctC/ctA,LOW,COSM3723227(8),0.401957,0.3423,rs1045531,,,,,,chr8,143763547,143763547,C,A,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu114Leu/c.342C>A|114|PSCA|protein_coding|CODING|NM_005672.4|3|1),non_coding_exon_variant(MODIFIER|||n.578C>A||PSCA||CODING|NR_033343.1|3|1)","HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,HeLa-S3:H3K9ac,K562:USF1,HSMM:DNase1,NH-A:DNase1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HeLa-S3:Cfos,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.407,0.5072,0.4473,0.42,0.36,0.45,,,,,,,,,,,,,,,,
missense_variant,LYPD2,MISSENSE,NM_205545.1:p.Ala7Val/c.20C>T,gCg/gTg,MODERATE,COSM4162719(1),0.249601,0.4018,rs11775636,0.66(T),0.001(B),0.13(N),-1.0973(T),,chr8,143833850,143833850,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala7Val/c.20C>T|125|LYPD2|protein_coding|CODING|NM_205545.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2761,0.1628,0.1899,0.19,0.21,0.18,,0.084164(N),1.000(P),-1.6(D),0.0000(T),0.007,-0.584380,4.29,-8.41,-0.739000,-1.930000,-2.198000,0.001000,0.000000,0.000000,8.5047
missense_variant,LYPD2,MISSENSE,NM_205545.1:p.Arg5Gln/c.14G>A,cGg/cAg,MODERATE,COSM1455272(2),0.234625,0.4038,rs11778314,0.12(T),0.001(B),1.87(L),-1.0076(T),,chr8,143833856,143833856,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg5Gln/c.14G>A|125|LYPD2|protein_coding|CODING|NM_205545.1|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2761,0.1585,0.1899,0.17,0.16,0.18,,0.746178(N),1.000(P),-0.77(T),0.0000(T),0.047,1.417549,4.29,-2.4,-0.145000,-0.285000,-0.279000,0.004000,0.001000,0.000000,5.4003
synonymous_variant,CYP11B1,SILENT,NM_000497.3:p.Leu75Leu/c.225A>G,ctA/ctG,LOW,,0.584065,0.752,rs6410,,,,,,chr8,143961005,143961005,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu75Leu/c.225A>G|503|CYP11B1|protein_coding|CODING|NM_000497.3|1|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu75Leu/c.225A>G|437|CYP11B1|protein_coding|CODING|NM_001026213.1|1|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.635,0.6268,0.5557,0.51,0.44,0.54,,,,,,,,,,,,,,,,
missense_variant,CYP11B2,MISSENSE,NM_000498.3:p.Val386Ala/c.1157T>C,gTg/gCg,MODERATE,COSM4162722(2),0.053115,0.003,rs61757294,0.41(T),0.005(B),0.495(N),-1.0777(T),,chr8,143994266,143994266,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val386Ala/c.1157T>C|503|CYP11B2|protein_coding|CODING|NM_000498.3|7|1),"IMR90:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000018372.26|RCV000018373.26,,0.0818,0.0648,0.1093,0.07,0.03,0.10,,0.061763(N),0.000(A),-0.14(T),0.0051(T),0.089,0.049749,2.85,-2.42,-1.338000,-1.003000,0.946000,0.001000,0.000000,0.001000,10.4616
synonymous_variant,CYP11B2,SILENT,NM_000498.3:p.Ala297Ala/c.891G>A,gcG/gcA,LOW,,0.103435,0.002,rs4543,,,,,,chr8,143995743,143995743,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala297Ala/c.891G>A|503|CYP11B2|protein_coding|CODING|NM_000498.3|5|1),"K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0695,0.0648,0.0765,0.13,0.22,0.09,,,,,,,,,,,,,,,,
synonymous_variant,CYP11B2,SILENT,NM_000498.3:p.Ala291Ala/c.873G>A,gcG/gcA,LOW,,0.823482,0.4752,rs4536,,,,,,chr8,143995761,143995761,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala291Ala/c.873G>A|503|CYP11B2|protein_coding|CODING|NM_000498.3|5|1),"K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8119,0.8963,0.9771,0.97,0.95,0.98,,,,,,,,,,,,,,,,
synonymous_variant,LY6E,SILENT,NM_001127213.1:p.Cys23Cys/c.69C>T,tgC/tgT,LOW,,0.0834665,0.1845,rs11547127,,,,,,chr8,144102747,144102747,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys23Cys/c.69C>T|131|LY6E|protein_coding|CODING|NM_001127213.1|3|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys23Cys/c.69C>T|131|LY6E|protein_coding|CODING|NM_002346.2|3|1)","H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1534,0.036,0.0527,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,C8orf31,MISSENSE,NM_173687.2:p.Leu39Pro/c.116T>C,cTg/cCg,MODERATE,COSM4162724(1),0.705272,0.7282,rs11136300,0.3(T),0.006(B),0(N),-0.9818(T),,chr8,144124609,144124609,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu39Pro/c.116T>C|132|C8orf31|protein_coding|CODING|NM_173687.2|3|1),"IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:DNase1",,,,0.7117,0.6873,0.6392,0.67,0.72,0.64,,,1.000(P),0.34(T),0.0000(T),0.094,-0.623858,2.38,-4.36,-2.048000,-1.757000,-2.651000,0.000000,0.000000,0.000000,1.0046
synonymous_variant,LY6H,SILENT,NM_001130478.1:p.Cys98Cys/c.294T>C,tgT/tgC,LOW,COSM150558(2),0.438099,0.2827,rs10109061,,,,,,chr8,144239859,144239859,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys98Cys/c.294T>C|161|LY6H|protein_coding|CODING|NM_001130478.1|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys98Cys/c.294T>C|161|LY6H|protein_coding|CODING|NM_001135655.1|4|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys77Cys/c.231T>C|140|LY6H|protein_coding|CODING|NM_002347.4|4|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3323,0.3343,0.4036,0.51,0.65,0.44,,,,,,,,,,,,,,,,
synonymous_variant,LY6H,SILENT,NM_001130478.1:p.Thr71Thr/c.213G>C,acG/acC,LOW,COSM150559(2),0.321486,0.2768,rs9694368,,,,,,chr8,144240257,144240257,C,G,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr71Thr/c.213G>C|161|LY6H|protein_coding|CODING|NM_001130478.1|4|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr71Thr/c.213G>C|161|LY6H|protein_coding|CODING|NM_001135655.1|3|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr50Thr/c.150G>C|140|LY6H|protein_coding|CODING|NM_002347.4|3|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3282,0.2968,0.3917,0.39,0.31,0.43,,,,,,,,,,,,,,,,
synonymous_variant,GPIHBP1,SILENT,NM_178172.5:p.Val46Val/c.138G>T,gtG/gtT,LOW,,0.358826,0.4296,rs11538388,,,,,,chr8,144295782,144295782,G,T,het,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val46Val/c.138G>T|184|GPIHBP1|protein_coding|CODING|NM_178172.5|2|1),"HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3303,0.4265,0.4473,0.36,0.23,0.43,,,,,,,,,,,,,,,,
start_lost,ZFP41,MISSENSE,NM_001271156.2:p.Met1?/c.2T>C,aTg/aCg,HIGH,,0.86881,0.8482,rs6558339,,,,,ZFP41:1.00(2);,chr8,144332012,144332012,T,C,het,"start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|199|ZFP41|protein_coding|CODING|NM_001271156.2|2|1),start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|199|ZFP41|protein_coding|CODING|NM_173832.5|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9254,0.8934,0.83,0.83,0.86,0.81,,,,,,,,,,,,,,,,
synonymous_variant,GLI4,SILENT,NM_138465.3:p.Pro22Pro/c.66A>G,ccA/ccG,LOW,,0.980232,1,rs386503859,,,,,,chr8,144351632,144351632,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro22Pro/c.66A>G|376|GLI4|protein_coding|CODING|NM_138465.3|2|1),"HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9816,0.9683,0.9453,0.96,0.99,0.94,,,,,,,,,,,,,,,,
missense_variant,GLI4,MISSENSE,NM_138465.3:p.Ala180Thr/c.538G>A,Gcc/Acc,MODERATE,COSM454138(3),0.469649,0.6577,rs1056148,0.07(T),0.0(B),0.63(N),-1.0515(T),,chr8,144358381,144358381,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala180Thr/c.538G>A|376|GLI4|protein_coding|CODING|NM_138465.3|4|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:DNase1",,,,0.6575,0.6628,0.4841,0.34,0.13,0.44,,,1.000(P),"3.18,3.18(T,T)",0.0000(T),0.01,2.077678,3.26,1.38,0.462000,0.201000,0.141000,0.544000,0.004000,0.000000,7.0503
missense_variant,ZNF696,MISSENSE,NM_030895.2:p.Arg36Trp/c.106C>T,Cgg/Tgg,MODERATE,,0.00179712,0,rs140398403,0.01(D),0.0(B),0(N),-0.9632(T),,chr8,144377951,144377951,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg36Trp/c.106C>T|374|ZNF696|protein_coding|CODING|NM_030895.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.008,0.01,0.00,0.01,,,1.000(N),"3.21,3.17(T,T)",0.0082(T),0.316,1.218678,2.17,1.28,-0.244000,0.472000,-0.264000,0.009000,0.002000,0.000000,4.9452
synonymous_variant,ZNF696,SILENT,NM_030895.2:p.Gly113Gly/c.339C>G,ggC/ggG,LOW,,0.506589,0.6726,rs2235115,,,,,,chr8,144378184,144378184,C,G,het,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly113Gly/c.339C>G|374|ZNF696|protein_coding|CODING|NM_030895.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.6499,0.4682,0.36,0.23,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ZNF696,SILENT,NM_030895.2:p.Arg341Arg/c.1023A>G,cgA/cgG,LOW,COSM1755601(17),0.899561,0.8403,rs7386259,,,,,,chr8,144378868,144378868,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg341Arg/c.1023A>G|374|ZNF696|protein_coding|CODING|NM_030895.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9294,0.9179,0.8608,0.87,0.93,0.84,,,,,,,,,,,,,,,,
missense_variant,TOP1MT,MISSENSE,NM_052963.2:p.Arg525Trp/c.1573C>T,Cgg/Tgg,MODERATE,COSM4162725(1),0.456869,0.6716,rs2293925,,,2.095(M),-0.9372(T),,chr8,144392368,144392368,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg427Trp/c.1279C>T|503|TOP1MT|protein_coding|CODING|NM_001258446.1|14|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg427Trp/c.1279C>T|503|TOP1MT|protein_coding|CODING|NM_001258447.1|13|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg525Trp/c.1573C>T|601|TOP1MT|protein_coding|CODING|NM_052963.2|13|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.6728,0.6326,0.4592,0.33,0.10,0.44,,,1.000(P),,0.0000(T),.,4.365437,4.14,-3.14,0.508000,-1.133000,0.360000,0.865000,0.000000,0.634000,6.8892
synonymous_variant,MAFA,SILENT,NM_201589.3:p.His194His/c.582T>C,caT/caC,LOW,COSM4162728(3),0.994609,1,rs1872900,,,,,,chr8,144511995,144511995,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His194His/c.582T>C|353|MAFA|protein_coding|CODING|NM_201589.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
stop_gained,ZC3H3,NONSENSE,NM_015117.2:p.Ser880*/c.2639C>A,tCa/tAa,HIGH,,0.111821,0.2431,rs2272754,0.79(T),,,,ZC3H3:1.00(1);ZC3H3:1.00(1);,chr8,144522387,144522387,G,T,het,stop_gained(HIGH|NONSENSE|tCa/tAa|p.Ser880*/c.2639C>A|948|ZC3H3|protein_coding|CODING|NM_015117.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0399,0.1167,0.1461,0.09,0.05,0.11,,0.017425(N),0.000(P),,,.,4.854259,4.25,1.07,-0.444000,-0.133000,-0.528000,0.005000,0.001000,0.000000,8.7374
missense_variant,ZC3H3,MISSENSE,NM_015117.2:p.Ser880Thr/c.2638T>A,Tca/Aca,MODERATE,,0.111821,0.2431,rs2272753,0.64(T),0.021(B),0.975(L),-1.0747(T),,chr8,144522388,144522388,A,T,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser880Thr/c.2638T>A|948|ZC3H3|protein_coding|CODING|NM_015117.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0399,0.1167,0.1461,0.09,0.05,0.11,,0.017425(N),1.000(P),0.93(T),0.0000(T),0.043,1.288569,4.25,-8.5,-0.605000,-2.892000,-4.369000,0.083000,0.000000,0.000000,4.56
missense_variant,ZC3H3,MISSENSE,NM_015117.2:p.Ser452Gly/c.1354A>G,Agc/Ggc,MODERATE,COSM4162731(2),0.775958,0.9256,rs4874147,1(T),0.0(B),-1.59(N),-1.0164(T),,chr8,144620183,144620183,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser452Gly/c.1354A>G|948|ZC3H3|protein_coding|CODING|NM_015117.2|2|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7904,0.7594,0.7366,0.72,0.69,0.73,,0.000209(N),1.000(P),4.21(T),0.0000(T),0.021,-2.158348,5.21,4.33,-0.215000,0.608000,0.821000,0.026000,0.261000,0.008000,8.9182
missense_variant,ZC3H3,MISSENSE,NM_015117.2:p.Ser399Gly/c.1195A>G,Agc/Ggc,MODERATE,COSM454139(2),0.417332,0.2133,rs1318196,1(T),0.0(B),-1.95(N),-0.9873(T),,chr8,144620342,144620342,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser399Gly/c.1195A>G|948|ZC3H3|protein_coding|CODING|NM_015117.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4479,0.4654,0.3479,0.39,0.53,0.32,,0.009819(N),1.000(P),4.22(T),0.0000(T),0.014,-1.126009,4.76,3.82,-0.215000,1.019000,1.005000,0.600000,0.956000,0.025000,7.9575
missense_variant,ZC3H3,MISSENSE,NM_015117.2:p.Ala228Ser/c.682G>T,Gcg/Tcg,MODERATE,COSM3763074(2),0.149361,0.0804,rs4873802,0.79(T),0.009(B),1.52(L),-0.9157(T),,chr8,144620855,144620855,C,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala228Ser/c.682G>T|948|ZC3H3|protein_coding|CODING|NM_015117.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2515,0.2536,0.1978,0.14,0.06,0.18,,0.440856(N),1.000(P),3.87(T),0.0000(T),0.044,-0.138368,5.09,0.477,-0.150000,0.147000,-0.131000,0.004000,0.011000,0.045000,3.8282
missense_variant,ZC3H3,MISSENSE,NM_015117.2:p.Glu151Asp/c.453A>C,gaA/gaC,MODERATE,COSM3763075(2),0.416534,0.2133,rs3750207,1(T),0.0(B),-1.7(N),-1.0132(T),,chr8,144621084,144621084,T,G,het,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu151Asp/c.453A>C|948|ZC3H3|protein_coding|CODING|NM_015117.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4438,0.4654,0.3479,0.39,0.53,0.32,,0.220921(N),1.000(P),4.26(T),0.0000(T),0.033,-2.250215,4.88,-2.42,-0.737000,-0.336000,-2.351000,0.017000,0.000000,0.000000,2.0717
synonymous_variant,GSDMD,SILENT,NM_001166237.1:p.Leu164Leu/c.492G>A,ctG/ctA,LOW,COSM454141(3),0.166334,0.0794,rs11551202,,,,,,chr8,144642854,144642854,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu164Leu/c.492G>A|484|GSDMD|protein_coding|CODING|NM_001166237.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu164Leu/c.492G>A|484|GSDMD|protein_coding|CODING|NM_024736.6|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2178,0.2594,0.1918,0.17,0.14,0.18,,,,,,,,,,,,,,,,
synonymous_variant,GSDMD,SILENT,NM_001166237.1:p.Pro341Pro/c.1023G>A,ccG/ccA,LOW,COSM3750069(2),0.131589,0.0357,rs11551198,,,,-1.0157(T),,chr8,144644405,144644405,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro341Pro/c.1023G>A|484|GSDMD|protein_coding|CODING|NM_001166237.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro341Pro/c.1023G>A|484|GSDMD|protein_coding|CODING|NM_024736.6|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1626,0.1311,0.2256,0.18,0.11,0.21,,,1.000(P),,0.0001(T),.,-0.128730,4.39,-0.686,-1.193000,-0.385000,0.121000,0.000000,0.000000,0.000000,2.2659
synonymous_variant,MROH6,SILENT,NM_001100878.1:p.Arg673Arg/c.2019T>C,cgT/cgC,LOW,,0.945288,1,rs7010602,,,,,,chr8,144649550,144649550,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg673Arg/c.2019T>C|719|MROH6|protein_coding|CODING|NM_001100878.1|14|1),"NHEK:CTCF,K562:CTCF,HMEC:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,HUVEC:DNase1,K562:USF1,K562:Rad21,NHEK:H3K36me3,K562:DNase1,H1ESC:CTCF",,,,1,0.9841,0.998,,,,,,,,,,,,,,,,,,,
synonymous_variant,MROH6,SILENT,NM_001100878.1:p.Ala656Ala/c.1968T>C,gcT/gcC,LOW,COSM4162734(1),0.944888,1,rs13268196,,,,,,chr8,144649601,144649601,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala656Ala/c.1968T>C|719|MROH6|protein_coding|CODING|NM_001100878.1|14|1),"NHEK:CTCF,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,HUVEC:DNase1,K562:USF1,K562:Rad21,NHEK:H3K36me3,K562:DNase1,H1ESC:CTCF",,,,1,0.9827,0.998,,,,,,,,,,,,,,,,,,,
synonymous_variant,MROH6,SILENT,NM_001100878.1:p.Arg648Arg/c.1944A>G,cgA/cgG,LOW,COSM3750071(5),0.945687,1,rs10097556,,,,,,chr8,144649625,144649625,T,C,hom,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg648Arg/c.1944A>G|719|MROH6|protein_coding|CODING|NM_001100878.1|14|1),"NHEK:CTCF,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,HUVEC:DNase1,K562:USF1,K562:Rad21,NHEK:H3K36me3,K562:DNase1,H1ESC:CTCF",,,,1,0.9841,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,MROH6,MISSENSE,NM_001100878.1:p.Ala619Thr/c.1855G>A,Gcc/Acc,MODERATE,COSM4162736(1),0.797923,0.9643,rs13255489,0.15(T),0.011(B),0.665(N),-1.0529(T),,chr8,144649968,144649968,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala619Thr/c.1855G>A|719|MROH6|protein_coding|CODING|NM_001100878.1|12|1),"H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.8313,0.8516,0.7724,0.76,0.71,0.79,,,1.000(P),1.29(T),0.0000(T),0.052,1.403371,4.91,-2.57,-0.702000,-1.049000,-1.013000,0.054000,0.000000,0.000000,5.1938
missense_variant,MROH6,MISSENSE,NM_001100878.1:p.Thr134Ile/c.401C>T,aCc/aTc,MODERATE,COSM3763077(2),0.320288,0.3562,rs10866911,0.53(T),"0.018,0.003(B,B)",0.55(N),-0.9150(T),,chr8,144654249,144654249,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr134Ile/c.401C>T|719|MROH6|protein_coding|CODING|NM_001100878.1|2|1),"NHEK:H3K9ac,HepG2:H3K4me2,HeLa-S3:DNase1,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HeLa-S3:PolII,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.2883,0.4135,0.5229,0.41,0.17,0.53,,,0.029(P),"4.19,1.86(T,T)",0.0000(T),0.128,2.853888,4.3,-1.38,-0.519000,-0.139000,1.349000,0.652000,0.806000,0.990000,6.1376
missense_variant,MROH6,MISSENSE,NM_001100878.1:p.Val132Ala/c.395T>C,gTg/gCg,MODERATE,COSM454147(2),0.773762,0.9058,rs4874153,1(T),"0.0,0.0(B,B)",0(N),-0.9745(T),,chr8,144654255,144654255,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val132Ala/c.395T>C|719|MROH6|protein_coding|CODING|NM_001100878.1|2|1),"NHEK:H3K9ac,HepG2:H3K4me2,HeLa-S3:DNase1,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HeLa-S3:PolII,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.7607,0.7349,0.8231,0.79,0.70,0.83,,,0.043(P),"4.19,1.99(T,T)",0.0000(T),0.105,0.682093,4.3,4.3,-0.374000,1.035000,0.671000,0.620000,0.851000,0.086000,8.2221
missense_variant,MROH6,MISSENSE,NM_001100878.1:p.His97Gln/c.291C>A,caC/caA,MODERATE,COSM3763079(4),0.316893,0.3552,rs4873803,0.32(T),"0.003,0.001(B,B)",0(N),-0.9099(T),,chr8,144654594,144654594,G,T,het,missense_variant(MODERATE|MISSENSE|caC/caA|p.His97Gln/c.291C>A|719|MROH6|protein_coding|CODING|NM_001100878.1|1|1),"NHEK:H3K9ac,HepG2:H3K4me2,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K4me2,HeLa-S3:PolII,HepG2:H3K4me3,HMEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.2904,0.4107,0.5219,0.41,0.17,0.52,,,0.995(P),"4.15,1.91(T,T)",0.0000(T),0.137,2.390863,4.52,-3.9,0.558000,-0.596000,-0.255000,0.373000,0.096000,0.006000,3.0085
synonymous_variant,MROH6,SILENT,NM_001100878.1:p.Pro64Pro/c.192C>G,ccC/ccG,LOW,COSM454149(2),0.31889,0.3562,rs4873804,,,,,,chr8,144654693,144654693,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro64Pro/c.192C>G|719|MROH6|protein_coding|CODING|NM_001100878.1|1|1),"NHEK:H3K9ac,HepG2:H3K4me2,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HeLa-S3:PolII,HepG2:H3K4me3,HMEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K4me3",,,,0.2883,0.415,0.5239,0.41,0.16,0.52,,,,,,,,,,,,,,,,
synonymous_variant,NAPRT,SILENT,NM_145201.5:p.Leu305Leu/c.913C>T,Ctg/Ttg,LOW,COSM3774322(1),0.397364,0.3938,rs872935,,,,,,chr8,144658711,144658711,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu305Leu/c.913C>T|525|NAPRT|protein_coding|CODING|NM_001286829.1|7|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu305Leu/c.913C>T|538|NAPRT|protein_coding|CODING|NM_145201.5|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4315,0.4611,0.6262,0.49,0.23,0.63,,,,,,,,,,,,,,,,
synonymous_variant,EEF1D,SILENT,NM_001130053.2:p.Ala578Ala/c.1734C>T,gcC/gcT,LOW,,0.374002,0.3998,rs1062391,,,,-0.9399(T),,chr8,144662353,144662353,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala578Ala/c.1734C>T|647|EEF1D|protein_coding|CODING|NM_001130053.2|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala212Ala/c.636C>T|281|EEF1D|protein_coding|CODING|NM_001130055.2|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala188Ala/c.564C>T|257|EEF1D|protein_coding|CODING|NM_001130056.2|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala212Ala/c.636C>T|281|EEF1D|protein_coding|CODING|NM_001130057.2|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala193Ala/c.579C>T|262|EEF1D|protein_coding|CODING|NM_001195203.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala212Ala/c.636C>T|281|EEF1D|protein_coding|CODING|NM_001289950.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala212Ala/c.636C>T|281|EEF1D|protein_coding|CODING|NM_001960.4|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala578Ala/c.1734C>T|647|EEF1D|protein_coding|CODING|NM_032378.4|9|1),upstream_gene_variant(MODIFIER||1832||525|NAPRT|protein_coding|CODING|NM_001286829.1||1),upstream_gene_variant(MODIFIER||1832||538|NAPRT|protein_coding|CODING|NM_145201.5||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4141,0.4539,0.6163,0.47,0.17,0.62,,,0.000(P),,0.0000(T),.,1.524662,4.84,-0.8,-0.237000,-0.058000,-0.747000,0.956000,0.991000,0.056000,4.35
synonymous_variant,EEF1D,SILENT,NM_001130053.2:p.Arg336Arg/c.1008G>T,cgG/cgT,LOW,COSM3763086(4),0.642572,0.5149,rs4874160,,,,,,chr8,144671244,144671244,C,A,het,"synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg336Arg/c.1008G>T|647|EEF1D|protein_coding|CODING|NM_001130053.2|3|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg336Arg/c.1008G>T|647|EEF1D|protein_coding|CODING|NM_032378.4|3|1),intron_variant(MODIFIER|||c.-4-2225G>T|281|EEF1D|protein_coding|CODING|NM_001130055.2|2|1),intron_variant(MODIFIER|||c.-4-2225G>T|281|EEF1D|protein_coding|CODING|NM_001289950.1|1|1),intron_variant(MODIFIER|||c.-7-2222G>T|281|EEF1D|protein_coding|CODING|NM_001130057.2|1|1),intron_variant(MODIFIER|||c.-7-2222G>T|257|EEF1D|protein_coding|CODING|NM_001130056.2|1|1),intron_variant(MODIFIER|||c.-7-2222G>T|262|EEF1D|protein_coding|CODING|NM_001195203.1|1|1),intron_variant(MODIFIER|||c.-7-2222G>T|281|EEF1D|protein_coding|CODING|NM_001960.4|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6912,0.7536,0.8499,0.79,0.55,0.91,,,,,,,,,,,,,,,,
missense_variant,EEF1D,MISSENSE,NM_001130053.2:p.Asp189Glu/c.567C>G,gaC/gaG,MODERATE,COSM3763090(6),0.936901,1,rs6985081,0.94(T),"0.0,0.0(B,B)",-1.39(N),-0.9886(T),,chr8,144671685,144671685,G,C,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp189Glu/c.567C>G|647|EEF1D|protein_coding|CODING|NM_001130053.2|3|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp189Glu/c.567C>G|647|EEF1D|protein_coding|CODING|NM_032378.4|3|1),intron_variant(MODIFIER|||c.-4-2666C>G|281|EEF1D|protein_coding|CODING|NM_001130055.2|2|1),intron_variant(MODIFIER|||c.-4-2666C>G|281|EEF1D|protein_coding|CODING|NM_001289950.1|1|1),intron_variant(MODIFIER|||c.-7-2663C>G|281|EEF1D|protein_coding|CODING|NM_001130057.2|1|1),intron_variant(MODIFIER|||c.-7-2663C>G|257|EEF1D|protein_coding|CODING|NM_001130056.2|1|1),intron_variant(MODIFIER|||c.-7-2663C>G|262|EEF1D|protein_coding|CODING|NM_001195203.1|1|1),intron_variant(MODIFIER|||c.-7-2663C>G|281|EEF1D|protein_coding|CODING|NM_001960.4|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9813,0.998,0.93,0.80,1.00,,0.976518(N),0.000(P),,0.0000(T),0.066,-1.494859,4.58,3.54,-0.322000,0.388000,-0.156000,0.020000,0.220000,0.002000,7.218
synonymous_variant,EEF1D,SILENT,NM_001130053.2:p.Arg110Arg/c.330C>T,cgC/cgT,LOW,COSM3763092(1),0.639377,0.5099,rs3812448,,,,,,chr8,144671922,144671922,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg110Arg/c.330C>T|647|EEF1D|protein_coding|CODING|NM_001130053.2|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg110Arg/c.330C>T|647|EEF1D|protein_coding|CODING|NM_032378.4|3|1),intron_variant(MODIFIER|||c.-4-2903C>T|281|EEF1D|protein_coding|CODING|NM_001130055.2|2|1),intron_variant(MODIFIER|||c.-4-2903C>T|281|EEF1D|protein_coding|CODING|NM_001289950.1|1|1),intron_variant(MODIFIER|||c.-7-2900C>T|281|EEF1D|protein_coding|CODING|NM_001130057.2|1|1),intron_variant(MODIFIER|||c.-7-2900C>T|257|EEF1D|protein_coding|CODING|NM_001130056.2|1|1),intron_variant(MODIFIER|||c.-7-2900C>T|262|EEF1D|protein_coding|CODING|NM_001195203.1|1|1),intron_variant(MODIFIER|||c.-7-2900C>T|281|EEF1D|protein_coding|CODING|NM_001960.4|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6912,0.7522,0.8499,0.74,0.51,0.85,,,,,,,,,,,,,,,,
missense_variant,TIGD5,MISSENSE,NM_032862.4:p.Gly262Arg/c.784G>A,Ggg/Agg,MODERATE,,0.0301518,0,rs141914327,0.66(T),0.033(B),0(N),-1.0020(T),,chr8,144680857,144680857,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly262Arg/c.784G>A|642|TIGD5|protein_coding|CODING|NM_032862.4|1|1),upstream_gene_variant(MODIFIER||1299||281|EEF1D|protein_coding|CODING|NM_001130057.2||1),upstream_gene_variant(MODIFIER||1012||647|EEF1D|protein_coding|CODING|NM_001130053.2||1),upstream_gene_variant(MODIFIER||1012||281|EEF1D|protein_coding|CODING|NM_001130055.2||1),upstream_gene_variant(MODIFIER||1012||257|EEF1D|protein_coding|CODING|NM_001130056.2||1),upstream_gene_variant(MODIFIER||1012||262|EEF1D|protein_coding|CODING|NM_001195203.1||1),upstream_gene_variant(MODIFIER||1012||281|EEF1D|protein_coding|CODING|NM_001289950.1||1),upstream_gene_variant(MODIFIER||1012||281|EEF1D|protein_coding|CODING|NM_001960.4||1),upstream_gene_variant(MODIFIER||1012||647|EEF1D|protein_coding|CODING|NM_032378.4||1)","K562:ZBTB7A,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:E2F6,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM06990:H3K36me3,HMEC:H3K4me3,K562:DNase1",,,,0.0051,0.0591,0.1014,,,,,0.802950(U),1.000(P),"1.04,1.04(T,T)",0.0021(T),0.11,-0.194331,2.85,0.907,0.487000,0.475000,0.317000,0.022000,0.008000,0.000000,3.9608
missense_variant,TIGD5,MISSENSE,NM_032862.4:p.Met568Ile/c.1704G>T,atG/atT,MODERATE,COSM454154(1),0.59984,0.5109,rs10282929,0.21(T),0.0(B),0.205(N),-1.0077(T),,chr8,144681777,144681777,G,T,het,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met568Ile/c.1704G>T|642|TIGD5|protein_coding|CODING|NM_032862.4|1|1),upstream_gene_variant(MODIFIER||1932||647|EEF1D|protein_coding|CODING|NM_001130053.2||1),upstream_gene_variant(MODIFIER||1932||281|EEF1D|protein_coding|CODING|NM_001130055.2||1),upstream_gene_variant(MODIFIER||1932||257|EEF1D|protein_coding|CODING|NM_001130056.2||1),upstream_gene_variant(MODIFIER||1932||262|EEF1D|protein_coding|CODING|NM_001195203.1||1),upstream_gene_variant(MODIFIER||1932||281|EEF1D|protein_coding|CODING|NM_001289950.1||1),upstream_gene_variant(MODIFIER||1932||281|EEF1D|protein_coding|CODING|NM_001960.4||1),upstream_gene_variant(MODIFIER||1932||647|EEF1D|protein_coding|CODING|NM_032378.4||1)","H1ESC:H3K36me3,K562:PolII,NHEK:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6738,0.719,0.7992,0.69,0.47,0.80,,0.766483(N),1.000(P),"1.69,1.7(T,T)",0.0000(T),0.013,-0.299412,4.25,-2.06,-1.036000,-0.758000,-0.142000,0.304000,0.000000,0.064000,3.5184
missense_variant,PYCRL,MISSENSE,NM_023078.3:p.Val117Met/c.349G>A,Gtg/Atg,MODERATE,COSM454156(2),0.245807,0.371,rs2242089,0.01(D),"0.83,0.885(P,P)",2.99(M),-1.0527(T),,chr8,144689146,144689146,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val117Met/c.349G>A|286|PYCRL|protein_coding|CODING|NM_023078.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2669,0.2233,0.2008,0.18,0.19,0.18,,0.002732(N),0.000(P),"-0.17,-0.17(T,T)",0.0000(T),0.153,2.855574,4.82,2.0,0.448000,0.101000,0.873000,0.682000,0.347000,0.313000,7.7118
synonymous_variant,ZNF623,SILENT,NM_014789.3:p.Asn107Asn/c.321T>C,aaT/aaC,LOW,,0.995407,1,rs4875017,,,,,,chr8,144732363,144732363,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn107Asn/c.321T>C|536|ZNF623|protein_coding|CODING|NM_014789.3|1|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn67Asn/c.201T>C|496|ZNF623|protein_coding|CODING|NM_001082480.2|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn67Asn/c.201T>C|496|ZNF623|protein_coding|CODING|NM_001261843.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,ZNF623,MISSENSE,NM_014789.3:p.Asn126Asp/c.376A>G,Aat/Gat,MODERATE,,0.996605,1,rs4874084,0.26(T),0.0(B),1.065(L),-1.0238(T),,chr8,144732418,144732418,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn126Asp/c.376A>G|536|ZNF623|protein_coding|CODING|NM_014789.3|1|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn86Asp/c.256A>G|496|ZNF623|protein_coding|CODING|NM_001082480.2|2|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn86Asp/c.256A>G|496|ZNF623|protein_coding|CODING|NM_001261843.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,,1.000(P),"3.2,3.2,3.2(T,T,T)",0.0000(T),0.017,0.146536,4.08,2.26,-0.119000,0.510000,-1.163000,0.365000,0.001000,0.000000,5.6621
missense_variant,ZNF707,MISSENSE,NM_001100598.1:p.Pro96His/c.287C>A,cCt/cAt,MODERATE,,0.548323,0.2282,rs6987308,0.23(T),,0(N),-0.9823(T),,chr8,144775871,144775871,C,A,hom,"missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro96His/c.287C>A|371|ZNF707|protein_coding|CODING|NM_001100598.1|6|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro96His/c.287C>A|371|ZNF707|protein_coding|CODING|NM_001100599.1|5|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro96His/c.287C>A|371|ZNF707|protein_coding|CODING|NM_001288805.1|8|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro96His/c.287C>A|371|ZNF707|protein_coding|CODING|NM_001288806.1|6|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro23His/c.68C>A|298|ZNF707|protein_coding|CODING|NM_001288807.1|6|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro60His/c.179C>A|335|ZNF707|protein_coding|CODING|NM_001288808.1|4|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro60His/c.179C>A|335|ZNF707|protein_coding|CODING|NM_001288809.1|4|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro96His/c.287C>A|371|ZNF707|protein_coding|CODING|NM_173831.3|7|1),non_coding_exon_variant(MODIFIER|||n.463C>A||ZNF707||CODING|NR_110190.1|5|1),non_coding_exon_variant(MODIFIER|||n.561C>A||ZNF707||CODING|NR_110191.1|6|1),non_coding_exon_variant(MODIFIER|||n.466C>A||ZNF707||CODING|NR_110192.1|5|1),non_coding_exon_variant(MODIFIER|||n.561C>A||ZNF707||CODING|NR_110193.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5798,0.6354,0.8449,0.76,0.54,0.86,,,1.000(P),4.71(T),0.0000(T),.,-0.788334,1.37,-2.73,-2.686000,-3.902000,-4.565000,0.001000,0.000000,0.000000,0.8821
synonymous_variant,ZNF707,SILENT,NM_001100598.1:p.Ser175Ser/c.525A>G,tcA/tcG,LOW,COSM1455376(23),0.992612,1,rs11786757,,,,,,chr8,144776109,144776109,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser175Ser/c.525A>G|371|ZNF707|protein_coding|CODING|NM_001100598.1|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser175Ser/c.525A>G|371|ZNF707|protein_coding|CODING|NM_001100599.1|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser175Ser/c.525A>G|371|ZNF707|protein_coding|CODING|NM_001288805.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser175Ser/c.525A>G|371|ZNF707|protein_coding|CODING|NM_001288806.1|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser102Ser/c.306A>G|298|ZNF707|protein_coding|CODING|NM_001288807.1|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser139Ser/c.417A>G|335|ZNF707|protein_coding|CODING|NM_001288808.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser139Ser/c.417A>G|335|ZNF707|protein_coding|CODING|NM_001288809.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser175Ser/c.525A>G|371|ZNF707|protein_coding|CODING|NM_173831.3|7|1),non_coding_exon_variant(MODIFIER|||n.701A>G||ZNF707||CODING|NR_110190.1|5|1),non_coding_exon_variant(MODIFIER|||n.799A>G||ZNF707||CODING|NR_110191.1|6|1),non_coding_exon_variant(MODIFIER|||n.704A>G||ZNF707||CODING|NR_110192.1|5|1),non_coding_exon_variant(MODIFIER|||n.799A>G||ZNF707||CODING|NR_110193.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MAPK15,SILENT,NM_139021.2:p.Pro166Pro/c.498C>T,ccC/ccT,LOW,COSM4006867(2),0.471446,0.4673,rs12678428,,,,,,chr8,144801243,144801243,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro166Pro/c.498C>T|544|MAPK15|protein_coding|CODING|NM_139021.2|6|1),"K562:Max,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,H1ESC:DNase1,HepG2:USF1,K562:USF1,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1",,,,0.6534,0.5735,0.7326,0.53,0.21,0.70,,,,,,,,,,,,,,,,
synonymous_variant,FAM83H,SILENT,NM_198488.3:p.Leu962Leu/c.2884C>T,Ctg/Ttg,LOW,COSM3763095(5),0.529153,0.4464,rs11136321,,,,,,chr8,144808747,144808747,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu962Leu/c.2884C>T|1179|FAM83H|protein_coding|CODING|NM_198488.3|5|1),"H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6708,0.6614,0.7952,0.65,0.36,0.78,,,,,,,,,,,,,,,,
synonymous_variant,FAM83H,SILENT,NM_198488.3:p.Tyr609Tyr/c.1827C>T,taC/taT,LOW,COSM3750074(11),0.823283,0.999,rs13254035,,,,,,chr8,144809804,144809804,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr609Tyr/c.1827C>T|1179|FAM83H|protein_coding|CODING|NM_198488.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.954,0.9366,0.9851,0.87,0.61,0.98,,,,,,,,,,,,,,,,
missense_variant,FAM83H,MISSENSE,NM_198488.3:p.Gln201His/c.603G>C,caG/caC,MODERATE,,0.998602,1,rs9969600,0.86(T),0.0(B),1.625(L),-0.9002(T),,chr8,144811338,144811338,C,G,hom,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln201His/c.603G>C|1179|FAM83H|protein_coding|CODING|NM_198488.3|3|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.010656(N),1.000(P),2.72(T),0.0000(T),0.185,-0.515703,5.11,2.28,-0.216000,0.009000,-0.006000,0.983000,0.998000,0.494000,7.1294
synonymous_variant,SCRIB,SILENT,NM_182706.4:p.Pro1450Pro/c.4350A>G,ccA/ccG,LOW,COSM3750076(9),0.990016,1,rs6991873,,,,-1.0265(T),,chr8,144874554,144874554,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1450Pro/c.4350A>G|1630|SCRIB|protein_coding|CODING|NM_015356.4|32|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1450Pro/c.4350A>G|1655|SCRIB|protein_coding|CODING|NM_182706.4|32|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.998,0.99,0.98,1.00,,,1.000(P),,0.0000(T),.,0.365776,4.01,-2.89,-0.386000,-0.857000,-0.411000,0.031000,0.000000,0.000000,6.6143
synonymous_variant,SCRIB,SILENT,NM_182706.4:p.Phe1192Phe/c.3576T>C,ttT/ttC,LOW,COSM3763101(7),0.933906,0.9752,rs13281371,,,,,,chr8,144885580,144885580,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1192Phe/c.3576T>C|1630|SCRIB|protein_coding|CODING|NM_015356.4|24|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1192Phe/c.3576T>C|1655|SCRIB|protein_coding|CODING|NM_182706.4|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9438,0.9085,0.91,0.90,0.91,,,0.000(P),,,.,-0.523042,4.82,-2.22,-1.449000,-0.623000,-0.362000,0.006000,0.281000,0.022000,11.3307
synonymous_variant,SCRIB,SILENT,NM_182706.4:p.Thr730Thr/c.2190T>C,acT/acC,LOW,COSM1489084(2),0.883586,0.9752,rs10866915,,,,,,chr8,144889172,144889172,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr730Thr/c.2190T>C|1630|SCRIB|protein_coding|CODING|NM_015356.4|17|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr730Thr/c.2190T>C|1655|SCRIB|protein_coding|CODING|NM_182706.4|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9251,0.8986,0.86,0.76,0.91,,,,,,,,,,,,,,,,
missense_variant,SCRIB,MISSENSE,NM_182706.4:p.Val674Glu/c.2021T>A,gTa/gAa,MODERATE,,1,1,rs10098508,1(T),"0.0,0.0(B,B)",0(N),-0.9640(T),,chr8,144890873,144890873,A,T,hom,"missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val674Glu/c.2021T>A|1630|SCRIB|protein_coding|CODING|NM_015356.4|15|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val674Glu/c.2021T>A|1655|SCRIB|protein_coding|CODING|NM_182706.4|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,1.000(P),"1.47,1.44,1.22(T,T,T)",0.0000(T),0.387,-1.291299,2.62,-0.446,-0.739000,-0.654000,-0.007000,0.008000,0.000000,0.003000,3.8791
missense_variant,SCRIB,MISSENSE,NM_182706.4:p.Pro422Leu/c.1265C>T,cCc/cTc,MODERATE,COSM3763103(3),0.534145,0.3502,rs6558394,0.29(T),"0.782,0.839(P,P)",0.345(N),-0.9040(T),,chr8,144893084,144893084,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro422Leu/c.1265C>T|1630|SCRIB|protein_coding|CODING|NM_015356.4|11|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro422Leu/c.1265C>T|1655|SCRIB|protein_coding|CODING|NM_182706.4|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6207,0.6729,0.6282,0.58,0.48,0.63,,,0.000(P),"-1.07,-1.07,-1.07(T,T,T)",0.0000(T),0.113,2.934560,4.21,4.21,0.462000,2.047000,7.463000,0.102000,0.333000,1.000000,15.8882
synonymous_variant,SCRIB,SILENT,NM_182706.4:p.Thr282Thr/c.846C>T,acC/acT,LOW,,0.904553,0.9752,rs4875060,,,,,,chr8,144894496,144894496,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr282Thr/c.846C>T|1630|SCRIB|protein_coding|CODING|NM_015356.4|9|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr282Thr/c.846C>T|1655|SCRIB|protein_coding|CODING|NM_182706.4|9|1),downstream_gene_variant(MODIFIER||631|||MIR937||NON_CODING|NR_030633.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9251,0.8976,0.88,0.82,0.91,,,,,,,,,,,,,,,,
synonymous_variant,EPPK1,SILENT,NM_031308.3:p.Arg2374Arg/c.7122C>T,cgC/cgT,LOW,COSM3834213(2),,,rs4977191,,,,,,chr8,144940300,144940300,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg2374Arg/c.7122C>T|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K27me3,CD4:H4K91ac,CD4:DNase1,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,GM12878:Srf,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:DNase1,K562:Srf",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,EPPK1,MISSENSE,NM_031308.3:p.Leu2081Val/c.6241C>G,Ctg/Gtg,MODERATE,COSM3982422(2),0.285942,0.2669,rs7839934,0.53(T),0.0(B),,-1.0369(T),,chr8,144941181,144941181,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu2081Val/c.6241C>G|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,CD4:H4K91ac,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.407,0.2997,0.2575,0.24,0.22,0.26,,,1.000(P),-0.37(T),0.0000(T),0.029,-0.107219,4.41,-1.77,-3.661000,-0.861000,-2.297000,0.000000,0.005000,0.000000,5.5162
synonymous_variant,EPPK1,SILENT,NM_031308.3:p.Ala2001Ala/c.6003G>A,gcG/gcA,LOW,COSM454169(2),0.212859,0.1399,rs12681478,,,,,,chr8,144941419,144941419,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2001Ala/c.6003G>A|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,CD4:H4K91ac,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.3149,0.33,0.3708,0.29,0.09,0.40,,,,,,,,,,,,,,,,
missense_variant,EPPK1,MISSENSE,NM_031308.3:p.Thr1507Ala/c.4519A>G,Acc/Gcc,MODERATE,COSM3763104(3),0.685304,0.3869,rs6558399,0.94(T),0.0(B),,-0.9580(T),,chr8,144942903,144942903,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1507Ala/c.4519A>G|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7689,0.732,0.7475,0.77,0.77,0.77,,,1.000(P),-0.27(T),0.0000(T),0.027,-0.756006,4.39,-1.92,-0.930000,-0.671000,-0.097000,0.012000,0.001000,0.000000,11.8691
synonymous_variant,EPPK1,SILENT,NM_031308.3:p.Pro1087Pro/c.3261G>A,ccG/ccA,LOW,COSM4162763(1),0.29393,0.2391,rs35221054,,,,,,chr8,144944161,144944161,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1087Pro/c.3261G>A|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4192,0.4524,0.4712,0.35,0.09,0.48,,,,,,,,,,,,,,,,
synonymous_variant,EPPK1,SILENT,NM_031308.3:p.Glu1082Glu/c.3246A>G,gaA/gaG,LOW,,0.534545,0.2798,rs12542653,,,,,,chr8,144944176,144944176,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1082Glu/c.3246A>G|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6022,0.683,0.6879,0.66,0.57,0.70,,,,,,,,,,,,,,,,
missense_variant,EPPK1,MISSENSE,NM_031308.3:p.Lys544Glu/c.1630A>G,Aag/Gag,MODERATE,COSM454171(2),0.5625,0.2798,rs13255110,1(T),0.0(B),,-0.9385(T),,chr8,144945792,144945792,T,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys544Glu/c.1630A>G|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5971,0.6844,0.6809,0.68,0.65,0.70,,,1.000(P),-0.16(T),0.0000(T),0.015,-2.333404,5.12,0.205,-0.726000,-0.412000,-0.015000,0.001000,0.000000,0.000000,6.5371
synonymous_variant,EPPK1,SILENT,NM_031308.3:p.Leu390Leu/c.1170G>A,ctG/ctA,LOW,COSM454172(1),0.508786,0.2778,rs11136330,,,,,,chr8,144946252,144946252,C,T,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu390Leu/c.1170G>A|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5777,0.6657,0.673,0.63,0.52,0.68,,,,,,,,,,,,,,,,
synonymous_variant,EPPK1,SILENT,NM_031308.3:p.Ala359Ala/c.1077C>T,gcC/gcT,LOW,COSM454173(3),0.292532,0.2381,rs34753358,,,,,,chr8,144946345,144946345,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala359Ala/c.1077C>T|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:DNase1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4131,0.4409,0.4801,0.36,0.10,0.49,,,,,,,,,,,,,,,,
missense_variant,EPPK1,MISSENSE,NM_031308.3:p.Asp202Asn/c.604G>A,Gac/Aac,MODERATE,COSM3763106(2),0.296326,0.2371,rs13260439,0.07(T),0.555(P),,-0.9025(T),,chr8,144946818,144946818,C,T,hom,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp202Asn/c.604G>A|2420|EPPK1|protein_coding|CODING|NM_031308.3|2|1),"H1ESC:H3K36me3,K562:PolII,NHEK:H3K36me3",,,,0.407,0.4597,0.493,0.37,0.10,0.51,,,0.201(P),-0.63(T),0.0000(T),0.06,3.194130,4.14,4.14,0.407000,2.304000,1.052000,0.377000,0.931000,0.416000,14.2648
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala4624Ala/c.13872T>C,gcT/gcC,LOW,COSM3763110(1),0.477037,0.1508,rs7014582,,,,,,chr8,144990528,144990528,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4514Ala/c.13542T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4473Ala/c.13419T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4465Ala/c.13395T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4624Ala/c.13872T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4455Ala/c.13365T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4487Ala/c.13461T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4491Ala/c.13473T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4487Ala/c.13461T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000078848.3,,0.3548,0.3746,0.4404,0.54,0.82,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ser4408Ser/c.13224A>G,tcA/tcG,LOW,COSM3763116(3),0.478435,0.1528,rs6558405,,,,,,chr8,144991176,144991176,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4298Ser/c.12894A>G|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4257Ser/c.12771A>G|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4249Ser/c.12747A>G|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4408Ser/c.13224A>G|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4239Ser/c.12717A>G|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4271Ser/c.12813A>G|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4275Ser/c.12825A>G|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser4271Ser/c.12813A>G|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078845.3,,0.3548,0.3746,0.4423,0.57,0.84,0.44,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Thr4099Thr/c.12297A>G,acA/acG,LOW,COSM3763120(1),0.490415,0.1538,rs6558406,,,,,,chr8,144992103,144992103,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr3989Thr/c.11967A>G|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3948Thr/c.11844A>G|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3940Thr/c.11820A>G|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr4099Thr/c.12297A>G|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3930Thr/c.11790A>G|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3962Thr/c.11886A>G|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3966Thr/c.11898A>G|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr3962Thr/c.11886A>G|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078840.3,,0.3773,0.3775,0.4563,0.59,0.86,0.45,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Pro4013Pro/c.12039A>G,ccA/ccG,LOW,COSM4162768(1),0.478235,0.1696,rs7822511,,,,,,chr8,144992361,144992361,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3903Pro/c.11709A>G|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3862Pro/c.11586A>G|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3854Pro/c.11562A>G|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4013Pro/c.12039A>G|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3844Pro/c.11532A>G|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3876Pro/c.11628A>G|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3880Pro/c.11640A>G|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3876Pro/c.11628A>G|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078838.3,,0.3569,0.3804,0.4284,0.57,0.84,0.44,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala3846Ala/c.11538T>C,gcT/gcC,LOW,COSM3763123(3),0.446086,0.1448,rs7819099,,,,,,chr8,144992862,144992862,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3736Ala/c.11208T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3695Ala/c.11085T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3687Ala/c.11061T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3846Ala/c.11538T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3677Ala/c.11031T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3709Ala/c.11127T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3713Ala/c.11139T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3709Ala/c.11127T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078837.3,,0.363,0.3703,0.4364,0.53,0.73,0.44,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Thr3692Thr/c.11076G>A,acG/acA,LOW,COSM4162783(1),0.234026,0.1349,rs6984820,,,,,,chr8,144993324,144993324,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr3582Thr/c.10746G>A|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3541Thr/c.10623G>A|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3533Thr/c.10599G>A|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3692Thr/c.11076G>A|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3523Thr/c.10569G>A|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3555Thr/c.10665G>A|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3559Thr/c.10677G>A|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr3555Thr/c.10665G>A|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078835.3,,0.365,0.2983,0.4235,0.30,0.09,0.41,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Leu3675Leu/c.11023T>C,Ttg/Ctg,LOW,COSM3723094(1),0.471845,0.1438,rs6992333,,,,,,chr8,144993377,144993377,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3565Leu/c.10693T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3524Leu/c.10570T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3516Leu/c.10546T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3675Leu/c.11023T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3506Leu/c.10516T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3538Leu/c.10612T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3542Leu/c.10624T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu3538Leu/c.10612T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078833.3,,0.3517,0.3746,0.4324,0.56,0.84,0.43,,,,,,,,,,,,,,,,
missense_variant,PLEC,MISSENSE,NM_201380.3:p.Ala3171Val/c.9512C>T,gCg/gTg,MODERATE,,0.0275559,0,rs35858667,0.01(D),"0.024,0.024,0.024,0.04,0.024,0.024,0.024,0.024(B,B,B,B,B,B,B,B)",0.69(N),-0.9893(T),,chr8,144994888,144994888,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3061Val/c.9182C>T|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3020Val/c.9059C>T|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3012Val/c.9035C>T|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3171Val/c.9512C>T|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3002Val/c.9005C>T|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3034Val/c.9101C>T|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3038Val/c.9113C>T|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3034Val/c.9101C>T|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078904.3,,0.0072,0.0519,0.0905,0.05,0.01,0.07,,0.024843(U),1.000(N),"-0.68,-0.68,-0.68,-0.68,-0.68,-0.68,-0.68,-0.68,-0.68(T,T,T,T,T,T,T,T,T)",0.0155(T),0.154,-0.122623,3.8,2.84,0.448000,1.849000,3.149000,0.194000,0.886000,0.394000,12.5533
missense_variant,PLEC,MISSENSE,NM_201380.3:p.Arg2969His/c.8906G>A,cGc/cAc,MODERATE,COSM3763129(2),0.230631,0.1419,rs6558407,0.06(T),"0.006,0.006,0.006,0.01,0.006,0.006,0.006,0.006(B,B,B,B,B,B,B,B)",3.305(M),-1.0694(T),,chr8,144995494,144995494,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2859His/c.8576G>A|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2818His/c.8453G>A|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2810His/c.8429G>A|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2969His/c.8906G>A|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2800His/c.8399G>A|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2832His/c.8495G>A|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2836His/c.8507G>A|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2832His/c.8495G>A|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,RCV000078902.3,,0.3466,0.2939,0.4294,0.31,0.09,0.41,,0.004744(U),0.236(P),"-1.25,-1.25,-1.25,-1.25,-1.25,-1.25,-1.25,-1.25,-1.25(T,T,T,T,T,T,T,T,T)",0.0000(T),0.142,1.190145,4.95,2.11,-0.538000,0.222000,2.910000,0.496000,0.985000,0.993000,7.3802
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Asn2888Asn/c.8664C>T,aaC/aaT,LOW,COSM3763135(5),0.230232,0.1419,rs11777402,,,,,,chr8,144995736,144995736,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2778Asn/c.8334C>T|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2737Asn/c.8211C>T|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2729Asn/c.8187C>T|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2888Asn/c.8664C>T|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2719Asn/c.8157C>T|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2751Asn/c.8253C>T|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2755Asn/c.8265C>T|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2751Asn/c.8253C>T|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,RCV000078899.3,,0.3446,0.2968,0.4284,0.30,0.09,0.41,,,,,,,,,,,,,,,,
missense_variant,PLEC,MISSENSE,NM_201380.3:p.Ser2791Pro/c.8371T>C,Tca/Cca,MODERATE,COSM3750079(7),0.466653,0.1429,rs7833924,1(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B)",-0.05(N),-0.9432(T),,chr8,144996029,144996029,A,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2681Pro/c.8041T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2640Pro/c.7918T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2632Pro/c.7894T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2791Pro/c.8371T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2622Pro/c.7864T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2654Pro/c.7960T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2658Pro/c.7972T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2654Pro/c.7960T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,RCV000078898.3,,0.3476,0.3674,0.4354,0.56,0.83,0.43,,0.000006(N),0.997(P),"-0.43,-0.43,-0.43,-0.43,-0.43,-0.43,-0.43,-0.43,-0.43(T,T,T,T,T,T,T,T,T)",0.0000(T),0.051,1.156295,4.16,1.26,-0.380000,0.147000,0.441000,0.791000,0.551000,0.803000,3.6953
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala2664Ala/c.7992A>C,gcA/gcC,LOW,COSM3763145(2),0.23103,0.1429,rs11778026,,,,-0.9112(T),,chr8,144996408,144996408,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2554Ala/c.7662A>C|4574|PLEC|protein_coding|CODING|NM_000445.4|33|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2513Ala/c.7539A>C|4533|PLEC|protein_coding|CODING|NM_201378.3|32|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2505Ala/c.7515A>C|4525|PLEC|protein_coding|CODING|NM_201379.2|32|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2664Ala/c.7992A>C|4684|PLEC|protein_coding|CODING|NM_201380.3|32|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2495Ala/c.7485A>C|4515|PLEC|protein_coding|CODING|NM_201381.2|32|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2527Ala/c.7581A>C|4547|PLEC|protein_coding|CODING|NM_201382.3|32|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2531Ala/c.7593A>C|4551|PLEC|protein_coding|CODING|NM_201383.2|32|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala2527Ala/c.7581A>C|4547|PLEC|protein_coding|CODING|NM_201384.2|32|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078893.3,,0.3466,0.2968,0.4284,0.30,0.09,0.40,,,0.000(P),,0.0000(T),.,1.017286,4.38,-5.41,0.364000,-0.830000,-2.721000,0.990000,0.870000,0.000000,1.205
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala2284Ala/c.6852G>A,gcG/gcA,LOW,COSM454190(5),0.230232,0.1429,rs7016416,,,,,,chr8,144997656,144997656,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2174Ala/c.6522G>A|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2133Ala/c.6399G>A|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2125Ala/c.6375G>A|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2284Ala/c.6852G>A|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2115Ala/c.6345G>A|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2147Ala/c.6441G>A|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2151Ala/c.6453G>A|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2147Ala/c.6441G>A|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078888.3,,0.3476,0.2954,0.4245,0.29,0.09,0.39,,,,,,,,,,,,,,,,
missense_variant,PLEC,MISSENSE,NM_201380.3:p.Ala2194Val/c.6581C>T,gCg/gTg,MODERATE,COSM3750084(5),0.230631,0.1429,rs7002002,0.49(T),"0.001,0.001,0.001,0.0,0.001,0.001,0.001,0.001(B,B,B,B,B,B,B,B)",1.1(L),-0.9922(T),,chr8,144997927,144997927,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2084Val/c.6251C>T|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2043Val/c.6128C>T|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2035Val/c.6104C>T|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2194Val/c.6581C>T|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2025Val/c.6074C>T|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2057Val/c.6170C>T|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2061Val/c.6182C>T|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2057Val/c.6170C>T|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000078886.3,,0.3466,0.2954,0.4274,0.26,0.08,0.35,,0.043544(N),1.000(P),"-1.05,-1.05,-1.06,-1.08,-1.04,-1.05,-1.02,-1.02,-1.02(T,T,T,T,T,T,T,T,T)",0.0000(T),0.041,0.747372,4.35,1.85,0.442000,0.654000,2.047000,0.738000,0.153000,0.025000,6.6507
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala2113Ala/c.6339G>A,gcG/gcA,LOW,COSM3750089(12),0.230831,0.1429,rs1140522,,,,,,chr8,144998169,144998169,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2003Ala/c.6009G>A|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1962Ala/c.5886G>A|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1954Ala/c.5862G>A|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2113Ala/c.6339G>A|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1944Ala/c.5832G>A|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1976Ala/c.5928G>A|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1980Ala/c.5940G>A|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1976Ala/c.5928G>A|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000078883.3,,0.3466,0.2968,0.4274,0.27,0.08,0.37,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala2106Ala/c.6318T>C,gcT/gcC,LOW,COSM3750095(2),0.230831,0.1429,rs2857829,,,,,,chr8,144998190,144998190,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1996Ala/c.5988T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1955Ala/c.5865T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1947Ala/c.5841T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala2106Ala/c.6318T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1937Ala/c.5811T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1969Ala/c.5907T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1973Ala/c.5919T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1969Ala/c.5907T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000078882.3,,0.3466,0.2968,0.4274,0.28,0.08,0.37,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala1697Ala/c.5091G>A,gcG/gcA,LOW,COSM3750102(2),0.230831,0.1429,rs55836855,,,,,,chr8,144999417,144999417,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1587Ala/c.4761G>A|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1546Ala/c.4638G>A|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1538Ala/c.4614G>A|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1697Ala/c.5091G>A|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1528Ala/c.4584G>A|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1560Ala/c.4680G>A|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1564Ala/c.4692G>A|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1560Ala/c.4680G>A|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,RCV000078871.3,,0.3476,0.2954,0.4274,0.27,0.08,0.36,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala1629Ala/c.4887G>A,gcG/gcA,LOW,COSM3750107(9),0.22484,0.125,rs55646585,,,,,,chr8,144999621,144999621,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1519Ala/c.4557G>A|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1478Ala/c.4434G>A|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1470Ala/c.4410G>A|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1629Ala/c.4887G>A|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1460Ala/c.4380G>A|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1492Ala/c.4476G>A|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1496Ala/c.4488G>A|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1492Ala/c.4476G>A|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,RCV000078867.3,,0.3466,0.2896,0.4205,0.27,0.09,0.37,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala1622Ala/c.4866T>G,gcT/gcG,LOW,COSM4162796(3),0.232628,0.1429,rs56117011,,,,,,chr8,144999642,144999642,A,C,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1512Ala/c.4536T>G|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1471Ala/c.4413T>G|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1463Ala/c.4389T>G|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1622Ala/c.4866T>G|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1453Ala/c.4359T>G|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1485Ala/c.4455T>G|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1489Ala/c.4467T>G|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1485Ala/c.4455T>G|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,RCV000078866.3,,0.3476,0.2968,0.4274,0.28,0.09,0.37,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala1608Ala/c.4824T>C,gcT/gcC,LOW,COSM3763159(3),0.232628,0.1429,rs35916068,,,,,,chr8,144999684,144999684,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1498Ala/c.4494T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1457Ala/c.4371T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1449Ala/c.4347T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1608Ala/c.4824T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1439Ala/c.4317T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1471Ala/c.4413T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1475Ala/c.4425T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|31|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1471Ala/c.4413T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|31|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,RCV000078865.3,,0.3476,0.2968,0.4274,0.24,0.07,0.32,,,,,,,,,,,,,,,,
missense_variant,PLEC,MISSENSE,NM_201380.3:p.His1459Arg/c.4376A>G,cAc/cGc,MODERATE,COSM3763170(2),0.466653,0.1429,rs55895668,1(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B)",-1.935(N),-0.9997(T),,chr8,145001031,145001031,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1349Arg/c.4046A>G|4574|PLEC|protein_coding|CODING|NM_000445.4|31|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1308Arg/c.3923A>G|4533|PLEC|protein_coding|CODING|NM_201378.3|30|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1300Arg/c.3899A>G|4525|PLEC|protein_coding|CODING|NM_201379.2|30|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1459Arg/c.4376A>G|4684|PLEC|protein_coding|CODING|NM_201380.3|30|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1290Arg/c.3869A>G|4515|PLEC|protein_coding|CODING|NM_201381.2|30|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1322Arg/c.3965A>G|4547|PLEC|protein_coding|CODING|NM_201382.3|30|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1326Arg/c.3977A>G|4551|PLEC|protein_coding|CODING|NM_201383.2|30|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1322Arg/c.3965A>G|4547|PLEC|protein_coding|CODING|NM_201384.2|30|1)","H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3,NHEK:DNase1",,RCV000117968.2,,0.3476,0.3674,0.4344,0.56,0.82,0.43,,0.000425(N),1.000(P),"1.71,1.71,1.71,1.71,1.71,1.71,1.71,1.71,1.71(T,T,T,T,T,T,T,T,T)",0.0000(T),0.273,0.865407,4.79,3.9,-0.380000,1.009000,1.623000,0.410000,0.870000,0.981000,7.4776
missense_variant,PLEC,MISSENSE,NM_201380.3:p.Arg1386Gln/c.4157G>A,cGg/cAg,MODERATE,COSM3750112(8),0.230831,0.1429,rs11136334,0.45(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B)",-0.69(N),-0.9317(T),,chr8,145001588,145001588,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1276Gln/c.3827G>A|4574|PLEC|protein_coding|CODING|NM_000445.4|28|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1235Gln/c.3704G>A|4533|PLEC|protein_coding|CODING|NM_201378.3|27|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1227Gln/c.3680G>A|4525|PLEC|protein_coding|CODING|NM_201379.2|27|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1386Gln/c.4157G>A|4684|PLEC|protein_coding|CODING|NM_201380.3|27|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1217Gln/c.3650G>A|4515|PLEC|protein_coding|CODING|NM_201381.2|27|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1249Gln/c.3746G>A|4547|PLEC|protein_coding|CODING|NM_201382.3|27|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1253Gln/c.3758G>A|4551|PLEC|protein_coding|CODING|NM_201383.2|27|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1249Gln/c.3746G>A|4547|PLEC|protein_coding|CODING|NM_201384.2|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078861.3,,0.3476,0.2954,0.4274,0.31,0.10,0.41,,0.606168(N),0.981(P),"1.38,1.38,1.38,1.38,1.38,1.38,1.38,1.38,1.38(T,T,T,T,T,T,T,T,T)",0.0000(T),0.078,1.989397,5.1,-0.662,-0.369000,-0.040000,0.002000,0.833000,0.979000,0.001000,4.6892
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Leu1321Leu/c.3961T>C,Ttg/Ctg,LOW,COSM3750117(11),0.230831,0.1429,rs3135109,,,,,,chr8,145001784,145001784,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1211Leu/c.3631T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|28|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1170Leu/c.3508T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|27|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1162Leu/c.3484T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|27|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1321Leu/c.3961T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|27|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1152Leu/c.3454T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|27|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1184Leu/c.3550T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|27|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1188Leu/c.3562T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|27|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1184Leu/c.3550T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000078859.3,,0.3476,0.2954,0.4274,0.26,0.08,0.36,,,,,,,,,,,,,,,,
missense_variant,PLEC,MISSENSE,NM_201380.3:p.Ala641Val/c.1922C>T,gCc/gTc,MODERATE,COSM3763174(1),0.23143,0.1399,rs11136336,0.12(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B)",-0.55(N),-1.0729(T),,chr8,145007187,145007187,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala531Val/c.1592C>T|4574|PLEC|protein_coding|CODING|NM_000445.4|15|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala490Val/c.1469C>T|4533|PLEC|protein_coding|CODING|NM_201378.3|14|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala482Val/c.1445C>T|4525|PLEC|protein_coding|CODING|NM_201379.2|14|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala641Val/c.1922C>T|4684|PLEC|protein_coding|CODING|NM_201380.3|14|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala472Val/c.1415C>T|4515|PLEC|protein_coding|CODING|NM_201381.2|14|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala504Val/c.1511C>T|4547|PLEC|protein_coding|CODING|NM_201382.3|14|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala508Val/c.1523C>T|4551|PLEC|protein_coding|CODING|NM_201383.2|14|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala504Val/c.1511C>T|4547|PLEC|protein_coding|CODING|NM_201384.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,NHEK:DNase1",,RCV000117955.2,,0.3374,0.2867,0.4066,0.29,0.10,0.38,,0.028215(U),1.000(P),"-1.03,-1.04,-1.06,-1.06,-1.05,-1.03,-1.03,-1.03,-1.03,-2.61(T,T,T,T,T,T,T,T,T,D)",0.0000(T),0.052,1.072611,4.87,3.92,0.643000,2.261000,1.952000,0.197000,0.707000,1.000000,7.8835
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Asp502Asp/c.1506T>C,gaT/gaC,LOW,COSM3763184(1),0.23143,0.1409,rs11783799,,,,,,chr8,145008560,145008560,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp392Asp/c.1176T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp351Asp/c.1053T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp343Asp/c.1029T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp502Asp/c.1506T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp333Asp/c.999T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp365Asp/c.1095T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp369Asp/c.1107T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp365Asp/c.1095T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|11|1)","H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,GM12878:USF1,HeLa-S3:DNase1,NHEK:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,GM12878:ELF1,HUVEC:DNase1,K562:USF1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,CD4:PolII,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:DNase1",,RCV000117948.2,,0.3354,0.2867,0.4066,0.29,0.11,0.38,,,,,,,,,,,,,,,,
synonymous_variant,PLEC,SILENT,NM_201380.3:p.Ala263Ala/c.789T>C,gcT/gcC,LOW,COSM150564(3),0.232428,0.1458,rs6993938,,,,,,chr8,145011204,145011204,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala153Ala/c.459T>C|4574|PLEC|protein_coding|CODING|NM_000445.4|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala112Ala/c.336T>C|4533|PLEC|protein_coding|CODING|NM_201378.3|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala104Ala/c.312T>C|4525|PLEC|protein_coding|CODING|NM_201379.2|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala263Ala/c.789T>C|4684|PLEC|protein_coding|CODING|NM_201380.3|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala94Ala/c.282T>C|4515|PLEC|protein_coding|CODING|NM_201381.2|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala126Ala/c.378T>C|4547|PLEC|protein_coding|CODING|NM_201382.3|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala130Ala/c.390T>C|4551|PLEC|protein_coding|CODING|NM_201383.2|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala126Ala/c.378T>C|4547|PLEC|protein_coding|CODING|NM_201384.2|5|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:DNase1,NHEK:H3K4me3,CD4:H4K91ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K4me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,CD4:H3K4me1,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,CD4:PolII,HUVEC:H3K4me1,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1",,RCV000117970.2,,0.3344,0.2882,0.4066,0.29,0.10,0.39,,,,,,,,,,,,,,,,
missense_variant,PARP10,MISSENSE,NM_032789.3:p.Val630Ala/c.1889T>C,gTg/gCg,MODERATE,COSM3774328(3),0.591254,0.1994,rs11544989,0.36(T),"0.0,0.0(B,B)",-0.205(N),-1.0322(T),,chr8,145057868,145057868,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val630Ala/c.1889T>C|1025|PARP10|protein_coding|CODING|NM_032789.3|8|1),"GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.638,0.4914,0.5755,0.68,0.88,0.58,,0.484573(N),1.000(P),"2.94,2.94,2.94(T,T,T)",0.0000(T),0.042,-1.169639,3.8,-6.93,-2.796000,-1.560000,-3.615000,0.007000,0.001000,0.000000,0.563
missense_variant,PARP10,MISSENSE,NM_032789.3:p.Leu395Pro/c.1184T>C,cTg/cCg,MODERATE,COSM4162822(2),0.364417,0.124,rs11136343,0.36(T),"0.0,0.0,0.0(B,B,B)",0.69(N),-0.9383(T),,chr8,145058986,145058986,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu395Pro/c.1184T>C|1025|PARP10|protein_coding|CODING|NM_032789.3|5|1),"GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.255,0.3926,0.44,0.57,0.38,,0.980735(N),1.000(P),"2.87,2.86,2.86,1.22(T,T,T,T)",0.0000(T),0.398,0.454757,3.0,-5.99,-1.612000,-1.692000,-2.851000,0.001000,0.000000,0.000000,6.835
missense_variant,PARP10,MISSENSE,NM_032789.3:p.Ile249Val/c.745A>G,Atc/Gtc,MODERATE,,0.391174,0.1458,rs11136344,1(T),"0.0,0.0,0.0(B,B,B)",-1.445(N),-0.9749(T),,chr8,145059425,145059425,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile249Val/c.745A>G|1025|PARP10|protein_coding|CODING|NM_032789.3|5|1),"GM12878:H3K4me3,GM12878:H3K36me3,CD4:H4K20me1,CD4:H3K4me1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3773,0.2795,0.4314,0.48,0.60,0.42,,0.328229(N),1.000(P),"3.14,3.15,3.15,1.83(T,T,T,T)",0.0000(T),0.14,-2.464539,3.8,-0.575,-1.016000,-0.436000,-1.973000,0.002000,0.001000,0.000000,3.4917
synonymous_variant,PARP10,SILENT,NM_032789.3:p.His71His/c.213C>T,caC/caT,LOW,COSM4162823(2),0.391174,0.1458,rs11136345,,,,,,chr8,145060112,145060112,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His71His/c.213C>T|1025|PARP10|protein_coding|CODING|NM_032789.3|3|1),"CD4:H2AZ,HepG2:H3K4me2,HeLa-S3:DNase1,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K4me2,GM12878:H3K36me3,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,GM06990:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,NHEK:DNase1",,,,0.3773,0.2795,0.4314,0.48,0.59,0.42,,,,,,,,,,,,,,,,
synonymous_variant,GRINA,SILENT,NM_000837.1:p.Leu331Leu/c.993A>G,ctA/ctG,LOW,,0.979034,0.8998,rs13277282,,,,-1.0112(T),,chr8,145066886,145066886,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu331Leu/c.993A>G|371|GRINA|protein_coding|CODING|NM_000837.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu331Leu/c.993A>G|371|GRINA|protein_coding|CODING|NM_001009184.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9971,1,1.00,1.00,1.00,,,0.000(P),,0.0000(T),.,1.309338,4.72,2.69,-0.330000,0.580000,-0.343000,0.935000,1.000000,0.688000,2.5315
synonymous_variant,SPATC1,SILENT,NM_198572.2:p.Thr131Thr/c.393G>A,acG/acA,LOW,,0.000199681,0,rs62530311,,,,,,chr8,145094991,145094991,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr131Thr/c.393G>A|441|SPATC1|protein_coding|CODING|NM_001134374.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr131Thr/c.393G>A|591|SPATC1|protein_coding|CODING|NM_198572.2|2|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,OPLAH,SILENT,NM_017570.4:p.Ala1009Ala/c.3027C>T,gcC/gcT,LOW,COSM4162826(1),0.983626,0.9236,rs11136253,,,,,,chr8,145107795,145107795,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1009Ala/c.3027C>T|1288|OPLAH|protein_coding|CODING|NM_017570.4|22|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.999,0.9957,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,OPLAH,SILENT,NM_017570.4:p.Asp526Asp/c.1578C>T,gaC/gaT,LOW,,0.0249601,0,rs72695427,,,,,,chr8,145111979,145111979,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp526Asp/c.1578C>T|1288|OPLAH|protein_coding|CODING|NM_017570.4|12|1),downstream_gene_variant(MODIFIER||245|||MIR6846||NON_CODING|NR_106905.1||1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0102,0.036,0.0855,0.06,0.01,0.08,,,,,,,,,,,,,,,,
synonymous_variant,CYC1,SILENT,NM_001916.4:p.Arg33Arg/c.99T>G,cgT/cgG,LOW,COSM3763191(4),0.889577,0.999,rs11541475,,,,,,chr8,145150101,145150101,T,G,hom,synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg33Arg/c.99T>G|325|CYC1|protein_coding|CODING|NM_001916.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,K562:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.9683,0.938,0.9115,,,,,,,,,,,,,,,,,,,
missense_variant,CYC1,MISSENSE,NM_001916.4:p.Met76Val/c.226A>G,Atg/Gtg,MODERATE,COSM4162831(1),0.962859,1,rs7820984,0.4(T),0.0(B),-1.1(N),-1.0178(T),,chr8,145150832,145150832,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met76Val/c.226A>G|325|CYC1|protein_coding|CODING|NM_001916.4|2|1),"NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,1,0.9928,0.998,0.96,0.87,1.00,,0.001705(N),1.000(P),1.72(T),0.0000(T),0.091,-1.579812,4.3,2.5,-2.370000,0.134000,0.257000,0.002000,0.196000,0.032000,4.656
synonymous_variant,SHARPIN,SILENT,NM_030974.3:p.Arg52Arg/c.154C>A,Cgg/Agg,LOW,COSM3763193(4),0.884784,0.999,rs11136254,,,,,,chr8,145158503,145158503,G,T,hom,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg52Arg/c.154C>A|387|SHARPIN|protein_coding|CODING|NM_030974.3|1|1),upstream_gene_variant(MODIFIER||802||256|MAF1|protein_coding|CODING|NM_032272.4||1),non_coding_exon_variant(MODIFIER|||n.636C>A||SHARPIN||CODING|NR_038270.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HSMM:H3K9ac,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.9683,0.9366,0.9115,0.91,0.84,0.94,,,,,,,,,,,,,,,,
synonymous_variant,MAF1,SILENT,NM_032272.4:p.Thr20Thr/c.60T>C,acT/acC,LOW,COSM4162832(1),0.953275,1,rs11136256,,,,,,chr8,145160646,145160646,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr20Thr/c.60T>C|256|MAF1|protein_coding|CODING|NM_032272.4|2|1),upstream_gene_variant(MODIFIER||1508|||SHARPIN||CODING|NR_038270.1||1),upstream_gene_variant(MODIFIER||1506||387|SHARPIN|protein_coding|CODING|NM_030974.3||1),upstream_gene_variant(MODIFIER||1983|||KIAA1875||NON_CODING|NR_024207.1||1)","H1ESC:H3K36me3,HepG2:H3K4me2,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,1,0.9899,0.998,0.95,0.85,1.00,,,,,,,,,,,,,,,,
missense_variant,MAF1,MISSENSE,NM_032272.4:p.Gly236Arg/c.706G>A,Ggg/Agg,MODERATE,COSM4162833(1),0.884385,0.999,rs11546144,0.7(T),0.0(B),0.345(N),-0.9843(T),,chr8,145161823,145161823,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly236Arg/c.706G>A|256|MAF1|protein_coding|CODING|NM_032272.4|7|1),upstream_gene_variant(MODIFIER||806|||KIAA1875||NON_CODING|NR_024207.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9683,0.9366,0.9105,0.85,0.72,0.92,,0.244347(N),0.996(P),"-1.54,-1.54,-1.54,-1.54(D,D,D,D)",0.0000(T),0.07,0.181685,4.8,0.43,-0.136000,-0.072000,1.526000,0.053000,0.066000,0.223000,6.7493
missense_variant,MROH1,MISSENSE,NM_032450.2:p.Ala38Val/c.113C>T,gCg/gTg,MODERATE,COSM4162841(1),0.805711,1,rs34819224,0.31(T),"0.002,0.001,0.001,0.004,0.004(B,B,B,B,B)",1.5(L),-0.9599(T),,chr8,145223288,145223288,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala38Val/c.113C>T|422|MROH1|protein_coding|CODING|NM_001099280.2|4|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala38Val/c.113C>T|422|MROH1|protein_coding|CODING|NM_001099281.2|3|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala38Val/c.113C>T|1632|MROH1|protein_coding|CODING|NM_001288814.1|3|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala38Val/c.113C>T|1641|MROH1|protein_coding|CODING|NM_032450.2|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9366,0.997,0.81,0.45,1.00,,0.677352(N),1.000(P),"-0.17,-0.16,-0.16,-0.16,-0.16(T,T,T,T,T)",0.0000(T),0.065,-0.145935,5.18,1.35,-1.204000,-0.165000,0.125000,0.037000,0.000000,0.000000,11.5462
missense_variant,SCRT1,MISSENSE,NM_031309.5:p.Ser133Ala/c.397T>G,Tct/Gct,MODERATE,COSM4162842(4),0.942292,0.9921,rs7013127,0.97(T),0.0(B),-0.55(N),-0.9851(T),,chr8,145557497,145557497,A,C,hom,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser133Ala/c.397T>G|348|SCRT1|protein_coding|CODING|NM_031309.5|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9294,0.9568,0.8956,,,,,,1.000(P),3.24(T),0.0000(T),0.045,-1.995963,0.926,-0.0566,-3.289000,-1.712000,.,0.381000,0.675000,.,6.2142
synonymous_variant,TMEM249,SILENT,NM_001280561.1:p.Phe44Phe/c.132T>C,ttT/ttC,LOW,COSM3834274(2),0.567692,0.6984,rs2272663,,,,,,chr8,145578296,145578296,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe44Phe/c.132T>C|235|TMEM249|protein_coding|CODING|NM_001280561.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe44Phe/c.132T>C|235|TMEM249|protein_coding|CODING|NM_001252402.2|1|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe44Phe/c.132T>C|217|TMEM249|protein_coding|CODING|NM_001252404.2|1|1),downstream_gene_variant(MODIFIER||792||539|FBXL6|protein_coding|CODING|NM_012162.3||1),downstream_gene_variant(MODIFIER||792||533|FBXL6|protein_coding|CODING|NM_024555.5||1),non_coding_exon_variant(MODIFIER|||n.296T>C||TMEM249||CODING|NR_047684.2|1|1)","NHEK:CTCF,HeLa-S3:DNase1,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.6595,0.5706,0.4573,,,,,,,,,,,,,,,,,,,
missense_variant,FBXL6,MISSENSE,NM_012162.3:p.Gly271Ala/c.812G>C,gGg/gCg,MODERATE,,0.0333466,0,rs61746974,0.41(T),"0.322,0.521(B,P)",2.305(M),-1.0922(T),,chr8,145580535,145580535,C,G,het,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly271Ala/c.812G>C|539|FBXL6|protein_coding|CODING|NM_012162.3|5|1),missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly265Ala/c.794G>C|533|FBXL6|protein_coding|CODING|NM_024555.5|5|1),upstream_gene_variant(MODIFIER||1944||235|TMEM249|protein_coding|CODING|NM_001252402.2||1),upstream_gene_variant(MODIFIER||1944||217|TMEM249|protein_coding|CODING|NM_001252404.2||1),upstream_gene_variant(MODIFIER||1944|||TMEM249||CODING|NR_047684.2||1),upstream_gene_variant(MODIFIER||1266||235|TMEM249|protein_coding|CODING|NM_001280561.1||1),upstream_gene_variant(MODIFIER||1682||445|SLC52A2|protein_coding|CODING|NM_001253816.1||1),upstream_gene_variant(MODIFIER||1706||445|SLC52A2|protein_coding|CODING|NM_001253815.1||1),upstream_gene_variant(MODIFIER||1706|||SLC52A2||CODING|NR_045600.1||1),upstream_gene_variant(MODIFIER||1741||445|SLC52A2|protein_coding|CODING|NM_024531.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0143,0.0274,0.0596,0.07,0.06,0.07,,0.003661(N),0.680(N),"5.56,2.33(T,T)",0.0056(T),0.164,1.703509,4.67,3.75,0.557000,2.137000,4.652000,0.295000,0.024000,0.652000,12.6239
missense_variant,ADCK5,MISSENSE,NM_174922.4:p.Arg17Ser/c.51A>C,agA/agC,MODERATE,COSM150567(4),0.632388,0.6577,rs6599528,0.84(T),0.001(B),-1.445(N),-0.9443(T),,chr8,145603114,145603114,A,C,hom,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg17Ser/c.51A>C|580|ADCK5|protein_coding|CODING|NM_174922.4|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6207,0.5648,0.4314,0.54,0.75,0.44,,0.857810(N),1.000(P),"-0.84,0.92(T,T)",0.0000(T),0.108,-1.085760,4.55,3.68,-0.975000,0.389000,2.275000,0.279000,0.001000,0.127000,5.77
synonymous_variant,CPSF1,SILENT,NM_013291.2:p.Asp568Asp/c.1704C>T,gaC/gaT,LOW,COSM3763197(1),0.459065,0.6597,rs4317614,,,,,,chr8,145623963,145623963,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp568Asp/c.1704C>T|1443|CPSF1|protein_coding|CODING|NM_013291.2|18|1),downstream_gene_variant(MODIFIER||1513|||MIR1234||NON_CODING|NR_031600.1||1),downstream_gene_variant(MODIFIER||1708|||MIR6849||NON_CODING|NR_106908.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6166,0.5,0.3668,0.33,0.27,0.36,,,,,,,,,,,,,,,,
missense_variant,SLC39A4,MISSENSE,NM_130849.3:p.Thr357Ala/c.1069A>G,Acc/Gcc,MODERATE,COSM1132811(4),0.39357,0.4861,rs2272662,0.15(T),"0.011,0.088(B,B)",0.86(L),-0.9428(T),,chr8,145639726,145639726,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr332Ala/c.994A>G|622|SLC39A4|protein_coding|CODING|NM_017767.2|5|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr357Ala/c.1069A>G|647|SLC39A4|protein_coding|CODING|NM_130849.3|6|1),upstream_gene_variant(MODIFIER||751||149|SLC39A4|protein_coding|CODING|NM_001280557.1||1)",,,,,0.502,0.4669,0.5686,0.43,0.15,0.58,,0.172725(N),0.998(P),"0.88,0.88(T,T)",0.0000(T),0.069,0.923532,5.03,-0.978,0.467000,-0.019000,1.314000,0.175000,0.183000,0.768000,3.8096
missense_variant,SLC39A4,MISSENSE,NM_130849.3:p.Trp251Arg/c.751T>C,Tgg/Cgg,MODERATE,,0.984625,1,rs2977838,0.41(T),0.0(B),,-0.9580(T),,chr8,145640411,145640411,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp226Arg/c.676T>C|622|SLC39A4|protein_coding|CODING|NM_017767.2|3|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp251Arg/c.751T>C|647|SLC39A4|protein_coding|CODING|NM_130849.3|4|1),upstream_gene_variant(MODIFIER||1436||149|SLC39A4|protein_coding|CODING|NM_001280557.1||1)","HepG2:H3K4me2,HepG2:H3K4me3,HepG2:DNase1",,,,0.9959,0.9813,0.9473,0.97,0.99,0.95,,0.000000(N),1.000(P),"0.73,0.73,0.73(T,T,T)",0.0000(T),0.122,-0.551853,4.95,0.637,-0.238000,-0.103000,-0.228000,0.094000,0.000000,0.000000,1.6542
missense_variant,SLC39A4,MISSENSE,NM_130849.3:p.Ala114Thr/c.340G>A,Gct/Act,MODERATE,COSM1489129(5),0.374201,0.37,rs17855765,0.35(T),"0.039,0.124(B,B)",0.345(N),-0.9397(T),,chr8,145641328,145641328,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala114Thr/c.340G>A|647|SLC39A4|protein_coding|CODING|NM_130849.3|2|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala89Thr/c.265G>A|622|SLC39A4|protein_coding|CODING|NM_017767.2|1|1)","HepG2:H3K4me2,K562:H3K36me3,HepG2:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac",,,,0.3569,0.379,0.5209,0.44,0.28,0.51,,0.682547(N),1.000(P),"0.43,0.43(T,T)",0.0000(T),0.05,0.380958,4.3,-3.67,0.306000,-0.547000,-1.006000,0.016000,0.000000,0.000000,10.6355
missense_variant,SLC39A4,MISSENSE,NM_017767.2:p.Glu10Ala/c.29A>C,gAa/gCa,MODERATE,COSM4162853(1),0.434105,0.38,rs2280839,0(D),0.001(B),0(N),-0.9264(T),,chr8,145641564,145641564,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu10Ala/c.29A>C|622|SLC39A4|protein_coding|CODING|NM_017767.2|1|1),intron_variant(MODIFIER|||c.193-89A>C|647|SLC39A4|protein_coding|CODING|NM_130849.3|1|1)","HepG2:H3K4me2,K562:H3K36me3,HepG2:H3K27ac,HepG2:PolII,HepG2:H3K4me3,HepG2:H3K9ac",,,,0.3793,0.4135,0.5268,0.51,0.47,0.53,,,1.000(P),0.09(T),0.0000(T),0.071,2.114534,3.0,-3.1,0.254000,-0.557000,-0.695000,0.051000,0.000000,0.000000,5.3
missense_variant,SLC39A4,MISSENSE,NM_130849.3:p.Ala58Thr/c.172G>A,Gcc/Acc,MODERATE,COSM3763200(2),0.433506,0.373,rs2280838,0.7(T),0.0(B),0.345(N),-1.0261(T),,chr8,145642002,145642002,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala58Thr/c.172G>A|647|SLC39A4|protein_coding|CODING|NM_130849.3|1|1),upstream_gene_variant(MODIFIER||85||622|SLC39A4|protein_coding|CODING|NM_017767.2||1)","HepG2:H3K4me2,HeLa-S3:DNase1,HepG2:Sin3Ak20,HeLa-S3:Max,HepG2:Nrsf,K562:H3K36me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HepG2:HEY1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HepG2:Yy1",,,,0.3998,0.4236,0.5567,0.52,0.43,0.57,,0.100064(N),0.803(P),"0.32,0.38(T,T)",0.0000(T),0.385,2.807508,4.71,-9.42,-0.683000,-1.950000,-2.408000,0.845000,0.038000,0.000000,5.7065
synonymous_variant,SLC39A4,SILENT,NM_130849.3:p.Thr21Thr/c.63G>C,acG/acC,LOW,,0.0219649,0,rs13251676,,,,,,chr8,145642111,145642111,C,G,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr21Thr/c.63G>C|647|SLC39A4|protein_coding|CODING|NM_130849.3|1|1),upstream_gene_variant(MODIFIER||194||622|SLC39A4|protein_coding|CODING|NM_017767.2||1)","HepG2:H3K4me2,HeLa-S3:DNase1,HepG2:Sin3Ak20,HeLa-S3:Max,HepG2:Nrsf,K562:H3K36me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HepG2:HEY1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HepG2:Yy1",,,,0.0123,0.0245,0.0785,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,TONSL,MISSENSE,NM_013432.4:p.Gly493Ser/c.1477G>A,Ggc/Agc,MODERATE,COSM1755636(4),0.482827,0.3849,rs2229315,1(T),0.0(B),-0.55(N),-0.9344(T),,chr8,145665407,145665407,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly493Ser/c.1477G>A|1378|TONSL|protein_coding|CODING|NM_013432.4|11|1),downstream_gene_variant(MODIFIER||131|||LOC100287098||NON_CODING|NR_109770.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3875,0.4741,0.5338,0.55,0.58,0.53,,0.001864(N),1.000(P),1.21(T),0.0000(T),0.065,-0.027475,5.51,5.51,-0.254000,0.934000,1.065000,0.437000,0.996000,0.958000,9.7751
synonymous_variant,TONSL,SILENT,NM_013432.4:p.Leu456Leu/c.1368A>G,ctA/ctG,LOW,COSM3982427(1),0.914537,0.8065,rs2306383,,,,,,chr8,145665516,145665516,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu456Leu/c.1368A>G|1378|TONSL|protein_coding|CODING|NM_013432.4|11|1),downstream_gene_variant(MODIFIER||240|||LOC100287098||NON_CODING|NR_109770.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9107,0.994,0.96,0.90,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TONSL,SILENT,NM_013432.4:p.Ala421Ala/c.1263C>T,gcC/gcT,LOW,COSM4162854(1),0.427516,0.372,rs2229313,,,,,,chr8,145665761,145665761,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala421Ala/c.1263C>T|1378|TONSL|protein_coding|CODING|NM_013432.4|10|1),downstream_gene_variant(MODIFIER||485|||LOC100287098||NON_CODING|NR_109770.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3926,0.5014,0.5994,0.51,0.34,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CYHR1,SILENT,NM_138496.1:p.His58His/c.174C>T,caC/caT,LOW,COSM4162858(1),0.914137,0.8075,rs2721167,,,,,,chr8,145689915,145689915,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His58His/c.174C>T|192|CYHR1|protein_coding|CODING|NM_001129888.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His58His/c.174C>T|192|CYHR1|protein_coding|CODING|NM_032687.3|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His58His/c.174C>T|362|CYHR1|protein_coding|CODING|NM_138496.1|2|1),upstream_gene_variant(MODIFIER||1823||838|KIFC2|protein_coding|CODING|NM_145754.2||1)","NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,K562:H3K27ac,H1ESC:H3K27me3,CD4:H4K20me1,HMEC:H3K4me2,CD4:H2BK5me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3",,,,0.9969,0.9236,0.998,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KIFC2,SILENT,NM_145754.2:p.Gly74Gly/c.222C>T,ggC/ggT,LOW,COSM3750122(9),0.914137,0.8075,rs2250891,,,,,,chr8,145692385,145692385,C,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly74Gly/c.222C>T|838|KIFC2|protein_coding|CODING|NM_145754.2|3|1),upstream_gene_variant(MODIFIER||1967||362|CYHR1|protein_coding|CODING|NM_138496.1||1),upstream_gene_variant(MODIFIER||1536||192|CYHR1|protein_coding|CODING|NM_032687.3||1),upstream_gene_variant(MODIFIER||1354||192|CYHR1|protein_coding|CODING|NM_001129888.1||1)","K562:ZBTB7A,NHEK:CTCF,K562:Max,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,IMR90:H3K4me2,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HepG2:USF1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:USF1,GM12878:ZEB1,HMEC:CTCF,K562:E2F6,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.9969,0.9236,0.998,0.97,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,KIFC2,MISSENSE,NM_145754.2:p.Glu174Lys/c.520G>A,Gag/Aag,MODERATE,,0.00339457,0,rs35968570,0.01(D),0.17(B),0.55(N),-1.0185(T),,chr8,145692918,145692918,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu174Lys/c.520G>A|838|KIFC2|protein_coding|CODING|NM_145754.2|5|1),upstream_gene_variant(MODIFIER||1887||192|CYHR1|protein_coding|CODING|NM_001129888.1||1)","NHEK:CTCF,K562:CTCF,H1ESC:H3K4me2,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,GM12878:ZEB1,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,H1ESC:CTCF",,,,0,0.0086,0.0109,0.01,0.00,0.01,,,1.000(D),0.81(T),0.0505(T),0.427,4.187615,3.61,3.61,0.563000,1.689000,3.425000,0.005000,0.024000,0.043000,13.0849
synonymous_variant,KIFC2,SILENT,NM_145754.2:p.Ala273Ala/c.819A>G,gcA/gcG,LOW,COSM4162860(1),0.95028,0.8075,rs2250657,,,,-1.0019(T),,chr8,145693720,145693720,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala273Ala/c.819A>G|838|KIFC2|protein_coding|CODING|NM_145754.2|8|1),"H1ESC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.998,0.928,0.998,1.00,1.00,1.00,,,0.000(P),,0.0000(T),.,1.306169,4.13,-1.55,-1.668000,-0.771000,-0.078000,0.755000,0.837000,0.011000,9.4526
missense_variant,GPT,MISSENSE,NM_005309.2:p.Arg107Lys/c.320G>A,aGg/aAg,MODERATE,,0.00359425,0,rs112574791,0.07(T),"0.059,0.117(B,B)",2.55(M),0.0244(D),,chr8,145730221,145730221,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg107Lys/c.320G>A|496|GPT|protein_coding|CODING|NM_005309.2|3|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0,0.0086,0.0119,0.01,0.00,0.01,,0.000011(N),0.993(D),"-2.55,-2.55(D,D)",0.5558(D),0.27,2.801445,5.23,3.42,0.561000,1.192000,1.958000,0.499000,0.990000,0.026000,6.5213
synonymous_variant,RECQL4,SILENT,NM_004260.3:p.Leu1043Leu/c.3127T>C,Ttg/Ctg,LOW,,0.946086,0.7966,rs4925828,,,,,,chr8,145737636,145737636,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1043Leu/c.3127T>C|1208|RECQL4|protein_coding|CODING|NM_004260.3|19|1),downstream_gene_variant(MODIFIER||1047||412|MFSD3|protein_coding|CODING|NM_138431.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9969,0.928,0.998,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,RECQL4,MISSENSE,NM_004260.3:p.Ser92Pro/c.274T>C,Tct/Cct,MODERATE,,0.943291,0.8065,rs2721190,,,,,,chr8,145742514,145742514,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser92Pro/c.274T>C|1208|RECQL4|protein_coding|CODING|NM_004260.3|4|1),upstream_gene_variant(MODIFIER||835||493|LRRC14|protein_coding|CODING|NM_001272036.1||1),upstream_gene_variant(MODIFIER||835||493|LRRC14|protein_coding|CODING|NM_014665.3||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,H1ESC:H3K4me2,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K9ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3",,,,0.9959,0.9222,0.998,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LRRC14,SILENT,NM_001272036.1:p.Leu25Leu/c.73T>C,Ttg/Ctg,LOW,COSM4162865(1),0.947684,0.8036,rs2721172,,,,,,chr8,145745182,145745182,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu25Leu/c.73T>C|493|LRRC14|protein_coding|CODING|NM_001272036.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu25Leu/c.73T>C|493|LRRC14|protein_coding|CODING|NM_014665.3|2|1),upstream_gene_variant(MODIFIER||1972||1208|RECQL4|protein_coding|CODING|NM_004260.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.9959,0.9251,0.998,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LRRC14,SILENT,NM_001272036.1:p.Glu128Glu/c.384A>G,gaA/gaG,LOW,,,,,,,,,,chr8,145745676,145745676,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu128Glu/c.384A>G|493|LRRC14|protein_coding|CODING|NM_001272036.1|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu128Glu/c.384A>G|493|LRRC14|protein_coding|CODING|NM_014665.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP39,SILENT,NM_025251.1:p.Asp1022Asp/c.3066C>T,gaC/gaT,LOW,COSM3763204(3),0.386981,0.2768,rs873884,,,,,,chr8,145756170,145756170,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1022Asp/c.3066C>T|1114|ARHGAP39|protein_coding|CODING|NM_025251.1|12|1),upstream_gene_variant(MODIFIER||1712||216|C8orf82|protein_coding|CODING|NM_001001795.1||1)","H1ESC:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3",,,,0.364,0.4179,0.6034,0.51,0.35,0.59,,,,,,,,,,,,,,,,
missense_variant,ZNF517,MISSENSE,NM_213605.2:p.Val181Met/c.541G>A,Gtg/Atg,MODERATE,COSM4162867(1),0.0419329,0,rs62531506,0.04(D),0.099(B),0(N),-0.9043(T),,chr8,146032842,146032842,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val181Met/c.541G>A|492|ZNF517|protein_coding|CODING|NM_213605.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0634,0.1302,0.10,0.03,0.13,,,0.050(P),"3.29,3.29(T,T)",0.0001(T),0.183,-0.169186,1.82,0.917,0.462000,0.329000,2.167000,0.304000,0.014000,0.077000,2.2236
missense_variant,ZNF517,MISSENSE,NM_213605.2:p.Val349Ala/c.1046T>C,gTg/gCg,MODERATE,COSM3750124(10),0.994609,1,rs2976653,0.04(D),0.0(B),1.08(L),-1.0245(T),,chr8,146033347,146033347,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val349Ala/c.1046T>C|492|ZNF517|protein_coding|CODING|NM_213605.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9785,1,0.994,1.00,1.00,0.99,,,1.000(P),"3.46,3.46(T,T)",0.0000(T),0.212,-1.418607,2.17,-0.838,-1.157000,-0.612000,-0.400000,0.004000,0.002000,0.001000,0.241
synonymous_variant,ZNF250,SILENT,NM_021061.4:p.Gly45Gly/c.135T>C,ggT/ggC,LOW,COSM4162869(1),0.910942,1,rs2735906,,,,,,chr8,146115367,146115367,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly40Gly/c.120T>C|555|ZNF250|protein_coding|CODING|NM_001109689.3|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly45Gly/c.135T>C|560|ZNF250|protein_coding|CODING|NM_021061.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9141,0.8746,0.7614,0.82,0.94,0.75,,,,,,,,,,,,,,,,
missense_variant,C9orf66,MISSENSE,NM_152569.2:p.Arg231Gly/c.691C>G,Cga/Gga,MODERATE,COSM3750168(2),0.54393,0.7401,rs540473,0(D),0.0(B),0(N),-1.0121(T),,chr9,214706,214706,G,C,het,"missense_variant(MODERATE|MISSENSE|Cga/Gga|p.Arg231Gly/c.691C>G|295|C9orf66|protein_coding|CODING|NM_152569.2|1|1),upstream_gene_variant(MODIFIER||159||2099|DOCK8|protein_coding|CODING|NM_203447.3||1)","H1ESC:PolII,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,K562:E2F6,K562:H3K9ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3",,,,0.5307,0.5504,0.4324,0.39,0.42,0.37,,,1.000(P),1.94(T),0.0000(T),0.027,0.405074,3.91,1.74,-0.335000,0.370000,0.456000,0.005000,0.885000,0.960000,11.1247
missense_variant,C9orf66,MISSENSE,NM_152569.2:p.Asn114Asp/c.340A>G,Aac/Gac,MODERATE,COSM4163706(4),0.641573,0.7401,rs481905,0(D),0.0(B),0(N),-1.0271(T),,chr9,215057,215057,T,C,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn114Asp/c.340A>G|295|C9orf66|protein_coding|CODING|NM_152569.2|1|1),intron_variant(MODIFIER|||c.53+28T>C|2099|DOCK8|protein_coding|CODING|NM_203447.3|1|1)","H1ESC:PolII,NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,K562:Znf263,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,K562:E2F6,K562:H3K9ac,GM12878:TAF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,GM06990:CTCF",,,,0.6411,0.611,0.4811,0.43,0.51,0.39,,,0.999(P),1.95(T),0.0000(T),0.007,1.185669,2.56,1.6,-0.642000,-0.029000,-0.471000,0.003000,0.002000,0.000000,4.3
missense_variant,C9orf66,MISSENSE,NM_152569.2:p.Arg113Ser/c.337C>A,Cgc/Agc,MODERATE,COSM1107873(1),0.00978435,0,rs141134256,0(D),0.066(B),0(N),-1.0213(T),,chr9,215060,215060,G,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg113Ser/c.337C>A|295|C9orf66|protein_coding|CODING|NM_152569.2|1|1),intron_variant(MODIFIER|||c.53+31G>T|2099|DOCK8|protein_coding|CODING|NM_203447.3|1|1)","H1ESC:PolII,NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,K562:Znf263,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,K562:E2F6,K562:H3K9ac,GM12878:TAF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,GM06990:CTCF",,,,0.0041,0.0303,0.0229,0.01,0.00,0.01,,,1.000(N),2.04(T),0.0056(T),0.157,0.902072,2.09,1.12,0.462000,0.000000,-2.015000,0.005000,0.005000,0.000000,5.8744
missense_variant,C9orf66,MISSENSE,NM_152569.2:p.Leu43Arg/c.128T>G,cTg/cGg,MODERATE,COSM3763861(3),0.179513,0.3185,rs636922,0(D),0.023(B),0(N),-0.9312(T),,chr9,215269,215269,A,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu43Arg/c.128T>G|295|C9orf66|protein_coding|CODING|NM_152569.2|1|1),intron_variant(MODIFIER|||c.53+240A>C|2099|DOCK8|protein_coding|CODING|NM_203447.3|1|1)","NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,K562:Znf263,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,K562:E2F6,K562:H3K9ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:CTCF,GM12878:H2AZ",,,,0.1595,0.2104,0.2634,0.18,0.05,0.25,,,1.000(P),2.03(T),0.0000(T),0.141,1.737391,3.1,-6.2,-0.464000,-1.934000,-3.285000,0.005000,0.000000,0.000000,1.2171
missense_variant,DOCK8,MISSENSE,NM_203447.3:p.Ala22Val/c.65C>T,gCg/gTg,MODERATE,COSM3982814(1),0.307708,0.375,rs506121,0.01(D),0.0(B),1.14(L),-0.9518(T),,chr9,271638,271638,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala22Val/c.65C>T|2099|DOCK8|protein_coding|CODING|NM_203447.3|2|1),upstream_gene_variant(MODIFIER||1410||1999|DOCK8|protein_coding|CODING|NM_001190458.1||1),upstream_gene_variant(MODIFIER||1410||2031|DOCK8|protein_coding|CODING|NM_001193536.1||1)","CD4:H2BK5ac,K562:H3K27ac,K562:H3K4me1,K562:H3K36me3,CD4:H3K27ac,CD4:H3K4ac,CD4:H2BK120ac",,,,0.2669,0.2767,0.341,0.32,0.29,0.33,,,0.000(P),2.23(T),0.0000(T),0.096,2.971367,5.88,4.05,0.557000,0.839000,1.418000,0.974000,0.974000,0.975000,10.1042
missense_variant,DOCK8,MISSENSE,NM_203447.3:p.Pro97Thr/c.289C>A,Cca/Aca,MODERATE,COSM3763875(1),0.529752,0.7212,rs529208,0.05(D),"0.978,0.767,0.457(D,P,P)",2.085(M),-0.9611(T),,chr9,286593,286593,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro29Thr/c.85C>A|1999|DOCK8|protein_coding|CODING|NM_001190458.1|2|1),missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro29Thr/c.85C>A|2031|DOCK8|protein_coding|CODING|NM_001193536.1|2|1),missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro97Thr/c.289C>A|2099|DOCK8|protein_coding|CODING|NM_203447.3|3|1)","GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K4me2,GM06990:H3K36me3",,,,0.5706,0.5231,0.4841,0.46,0.41,0.49,,0.000133(D),0.000(P),"0.72,0.72,0.72,0.72,0.72(T,T,T,T,T)",0.0000(T),0.443,3.734202,5.47,4.57,0.563000,1.315000,3.149000,0.990000,0.435000,0.975000,9.9931
missense_variant,DOCK8,MISSENSE,NM_203447.3:p.Asn413Ser/c.1238A>G,aAt/aGt,MODERATE,COSM3765452(2),0.199681,0.0377,rs10970979,1(T),"0.0,0.0(B,B)",-0.495(N),-0.9389(T),,chr9,334337,334337,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn345Ser/c.1034A>G|1999|DOCK8|protein_coding|CODING|NM_001190458.1|10|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn345Ser/c.1034A>G|2031|DOCK8|protein_coding|CODING|NM_001193536.1|10|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn413Ser/c.1238A>G|2099|DOCK8|protein_coding|CODING|NM_203447.3|11|1)","GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.2061,0.2724,0.28,0.23,0.31,,0.004578(N),0.001(P),"1.51,1.51,1.51(T,T,T)",0.0000(T),0.052,0.793247,5.87,2.28,0.533000,0.559000,0.417000,0.928000,0.918000,0.005000,8.7127
missense_variant,DOCK8,MISSENSE,NM_203447.3:p.Ala597Val/c.1790C>T,gCg/gTg,MODERATE,,0.029353,0,rs17673268,0.24(T),"0.982,0.917(D,D)",1.53(L),-1.2205(T),,chr9,368128,368128,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala529Val/c.1586C>T|1999|DOCK8|protein_coding|CODING|NM_001190458.1|14|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala529Val/c.1586C>T|2031|DOCK8|protein_coding|CODING|NM_001193536.1|14|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala597Val/c.1790C>T|2099|DOCK8|protein_coding|CODING|NM_203447.3|15|1)","GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.0174,0.0288,0.1074,0.08,0.02,0.11,,0.000000(D),1.000(D),"2.55,2.55,2.55,2.35(T,T,T,T)",0.0024(T),0.519,5.623058,5.15,5.15,0.650000,2.583000,5.933000,0.165000,0.877000,1.000000,18.9969
synonymous_variant,DOCK8,SILENT,NM_203447.3:p.Lys604Lys/c.1812A>G,aaA/aaG,LOW,COSM3763926(1),0.215855,0.0804,rs913703,,,,,,chr9,370244,370244,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys536Lys/c.1608A>G|1999|DOCK8|protein_coding|CODING|NM_001190458.1|15|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys536Lys/c.1608A>G|2031|DOCK8|protein_coding|CODING|NM_001193536.1|15|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys604Lys/c.1812A>G|2099|DOCK8|protein_coding|CODING|NM_203447.3|16|1)","GM12878:H3K36me3,K562:H3K36me3,HSMM:DNase1,CD4:H3K36me3,GM06990:H3K36me3",,,,0.2454,0.2133,0.2326,0.25,0.27,0.24,,,,,,,,,,,,,,,,
synonymous_variant,DOCK8,SILENT,NM_203447.3:p.Leu780Leu/c.2340G>C,ctG/ctC,LOW,COSM3763936(1),0.228634,0.0794,rs10814431,,,,,,chr9,377111,377111,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu712Leu/c.2136G>C|1999|DOCK8|protein_coding|CODING|NM_001190458.1|19|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu712Leu/c.2136G>C|2031|DOCK8|protein_coding|CODING|NM_001193536.1|19|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu780Leu/c.2340G>C|2099|DOCK8|protein_coding|CODING|NM_203447.3|20|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.2526,0.2262,0.2505,0.27,0.29,0.26,,,,,,,,,,,,,,,,
synonymous_variant,DOCK8,SILENT,NM_203447.3:p.Thr972Thr/c.2916C>T,acC/acT,LOW,COSM1179612(2),0.254992,0.0972,rs2297075,,,,,,chr9,390512,390512,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr872Thr/c.2616C>T|1999|DOCK8|protein_coding|CODING|NM_001190458.1|22|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr904Thr/c.2712C>T|2031|DOCK8|protein_coding|CODING|NM_001193536.1|23|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr972Thr/c.2916C>T|2099|DOCK8|protein_coding|CODING|NM_203447.3|24|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.2393,0.245,0.2495,0.29,0.36,0.25,,,,,,,,,,,,,,,,
synonymous_variant,DOCK8,SILENT,NM_203447.3:p.Leu1369Leu/c.4107C>G,ctC/ctG,LOW,COSM3763947(3),0.391773,0.499,rs2297079,,,,,,chr9,421032,421032,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1269Leu/c.3807C>G|1999|DOCK8|protein_coding|CODING|NM_001190458.1|30|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1301Leu/c.3903C>G|2031|DOCK8|protein_coding|CODING|NM_001193536.1|31|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1369Leu/c.4107C>G|2099|DOCK8|protein_coding|CODING|NM_203447.3|32|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.4356,0.4352,0.6203,0.46,0.17,0.61,,,,,,,,,,,,,,,,
synonymous_variant,DOCK8,SILENT,NM_203447.3:p.Phe1497Phe/c.4491T>C,ttT/ttC,LOW,,0.999401,1,rs7854035,,,,,,chr9,429719,429719,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1397Phe/c.4191T>C|1999|DOCK8|protein_coding|CODING|NM_001190458.1|34|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1429Phe/c.4287T>C|2031|DOCK8|protein_coding|CODING|NM_001193536.1|35|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1497Phe/c.4491T>C|2099|DOCK8|protein_coding|CODING|NM_203447.3|36|1)","GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,1,1,0.997,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DOCK8,SILENT,NM_203447.3:p.Glu1811Glu/c.5433G>A,gaG/gaA,LOW,COSM4163900(1),0.803914,0.994,rs1887957,,,,,,chr9,441952,441952,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1711Glu/c.5133G>A|1999|DOCK8|protein_coding|CODING|NM_001190458.1|40|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1743Glu/c.5229G>A|2031|DOCK8|protein_coding|CODING|NM_001193536.1|41|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1811Glu/c.5433G>A|2099|DOCK8|protein_coding|CODING|NM_203447.3|42|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.8231,0.8674,0.8439,0.74,0.60,0.82,,,,,,,,,,,,,,,,
missense_variant,KANK1,MISSENSE,NM_001256876.1:p.Glu432Gln/c.1294G>C,Gag/Cag,MODERATE,COSM1132467(1),0.235224,0.123,rs4465020,0.39(T),"0.09,0.09(B,B)",1.545(L),-0.9421(T),,chr9,712060,712060,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu432Gln/c.1294G>C|1352|KANK1|protein_coding|CODING|NM_001256876.1|7|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu432Gln/c.1294G>C|1352|KANK1|protein_coding|CODING|NM_001256877.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu432Gln/c.1294G>C|1352|KANK1|protein_coding|CODING|NM_015158.3|3|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu274Gln/c.820G>C|1194|KANK1|protein_coding|CODING|NM_153186.4|2|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4642,0.2176,0.4066,0.29,0.08,0.39,,0.092235(N),1.000(P),"0.85,0.85,0.92(T,T,T)",0.0000(T),0.097,-0.319282,5.73,4.81,0.655000,2.721000,2.053000,0.005000,0.120000,0.546000,9.3954
synonymous_variant,KANK1,SILENT,NM_001256876.1:p.Asn611Asn/c.1833C>T,aaC/aaT,LOW,COSM1462713(2),0.252995,0.126,rs11789987,,,,,,chr9,712599,712599,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn611Asn/c.1833C>T|1352|KANK1|protein_coding|CODING|NM_001256876.1|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn611Asn/c.1833C>T|1352|KANK1|protein_coding|CODING|NM_001256877.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn611Asn/c.1833C>T|1352|KANK1|protein_coding|CODING|NM_015158.3|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn453Asn/c.1359C>T|1194|KANK1|protein_coding|CODING|NM_153186.4|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K79me2,IMR90:H3K79me2",,,,0.4581,0.2262,0.4105,0.31,0.14,0.40,,,,,,,,,,,,,,,,
synonymous_variant,KANK1,SILENT,NM_001256876.1:p.Gly1278Gly/c.3834A>G,ggA/ggG,LOW,COSM3763986(1),0.997604,1,rs10733535,,,,,,chr9,742342,742342,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1278Gly/c.3834A>G|1352|KANK1|protein_coding|CODING|NM_001256876.1|14|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1278Gly/c.3834A>G|1352|KANK1|protein_coding|CODING|NM_001256877.1|11|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1278Gly/c.3834A>G|1352|KANK1|protein_coding|CODING|NM_015158.3|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1120Gly/c.3360A>G|1194|KANK1|protein_coding|CODING|NM_153186.4|9|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9971,0.9901,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,DMRT2,MISSENSE,NM_181872.4:p.Thr106Ser/c.317C>G,aCt/aGt,MODERATE,,0.0261581,0.006,rs112585712,0.68(T),"0.001,0.0(B,B)",0.345(N),-1.0473(T),,chr9,1051930,1051930,C,G,het,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr106Ser/c.317C>G|226|DMRT2|protein_coding|CODING|NM_001130865.2|3|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr106Ser/c.317C>G|226|DMRT2|protein_coding|CODING|NM_006557.6|2|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr106Ser/c.317C>G|561|DMRT2|protein_coding|CODING|NM_181872.4|2|1)","NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.0573,0.0187,0.0537,,,,,0.840084(N),1.000(N),"1.05,2.04,1.05,2.04,2.04,1.05(T,T,T,T,T,T)",0.0106(T),0.033,0.836916,3.82,0.583,0.491000,0.267000,-0.165000,0.005000,0.003000,0.001000,8.3816
missense_variant,DMRT2,MISSENSE,NM_181872.4:p.Ala381Pro/c.1141G>C,Gca/Cca,MODERATE,,0.346645,0.4762,rs3824419,0.24(T),0.063(B),0.55(N),-0.9210(T),,chr9,1056728,1056728,G,C,het,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala381Pro/c.1141G>C|561|DMRT2|protein_coding|CODING|NM_181872.4|4|1),3_prime_UTR_variant(MODIFIER||954|c.*954G>C|226|DMRT2|protein_coding|CODING|NM_006557.6|4|1),3_prime_UTR_variant(MODIFIER||954|c.*538G>C|226|DMRT2|protein_coding|CODING|NM_001130865.2|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4192,0.4222,0.3489,0.29,0.19,0.34,,0.391098(N),1.000(P),"1.89,1.89,1.89(T,T,T)",0.0000(T),0.054,0.509175,5.78,-1.62,-0.156000,-0.150000,0.457000,0.472000,0.003000,0.004000,1.5529
synonymous_variant,VLDLR,SILENT,NM_003383.3:p.Gln689Gln/c.2067A>G,caA/caG,LOW,,0.0738818,0.002,rs6148,,,,,,chr9,2648773,2648773,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln689Gln/c.2067A>G|845|VLDLR|protein_coding|CODING|NM_001018056.1|14|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln689Gln/c.2067A>G|873|VLDLR|protein_coding|CODING|NM_003383.3|14|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118821.2,,0.0716,0.0793,0.2068,0.14,0.05,0.19,,,,,,,,,,,,,,,,
synonymous_variant,KCNV2,SILENT,NM_133497.3:p.Gly61Gly/c.183C>G,ggC/ggG,LOW,COSM3763866(2),0.660343,0.7728,rs10967705,,,,,,chr9,2717922,2717922,C,G,het,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly61Gly/c.183C>G|545|KCNV2|protein_coding|CODING|NM_133497.3|1|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000082506.1,,0.6084,0.7435,0.5746,0.59,0.63,0.56,,,,,,,,,,,,,,,,
synonymous_variant,KCNV2,SILENT,NM_133497.3:p.Ala265Ala/c.795C>G,gcC/gcG,LOW,COSM455793(2),0.480032,0.7173,rs12237048,,,,,,chr9,2718534,2718534,C,G,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala265Ala/c.795C>G|545|KCNV2|protein_coding|CODING|NM_133497.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000082511.1,,0.3681,0.549,0.4742,0.44,0.38,0.46,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0020,SILENT,NM_014878.4:p.His497His/c.1491C>T,caC/caT,LOW,,0.413738,0.496,rs2270888,,,,,,chr9,2811505,2811505,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His497His/c.1491C>T|648|KIAA0020|protein_coding|CODING|NM_014878.4|15|1),"H1ESC:H3K36me3,IMR90:H2BK120ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HSMM:H3K36me3,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4ac,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,GM06990:H3K36me3",,,,0.5787,0.3746,0.4742,0.42,0.26,0.50,,,,,,,,,,,,,,,,
missense_variant,KIAA0020,MISSENSE,NM_014878.4:p.Arg289Pro/c.866G>C,cGa/cCa,MODERATE,,0.57508,0.5407,rs2173904,0.43(T),0.0(B),-0.885(N),-1.0283(T),,chr9,2828765,2828765,C,G,het,missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg289Pro/c.866G>C|648|KIAA0020|protein_coding|CODING|NM_014878.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6196,0.5029,0.5417,0.58,0.62,0.56,,0.000075(N),0.999(P),2.61(T),0.0000(T),0.1,-0.680396,5.72,4.82,-0.127000,0.899000,3.626000,0.520000,0.988000,1.000000,12.1402
missense_variant,GLIS3,MISSENSE,NM_001042413.1:p.Ser424Pro/c.1270T>C,Tcg/Ccg,MODERATE,COSM3763944(4),0.999002,1,rs806052,0.4(T),"0.0,0.0(B,B)",0(N),-1.0668(T),,chr9,4118208,4118208,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser424Pro/c.1270T>C|930|GLIS3|protein_coding|CODING|NM_001042413.1|4|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser269Pro/c.805T>C|775|GLIS3|protein_coding|CODING|NM_152629.3|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,RCV000117148.2,,1,1,1,1.00,1.00,1.00,,0.491160(N),1.000(P),"2.85,2.82(T,T)",0.0000(T),0.035,-1.506769,4.59,-2.61,-1.705000,-0.972000,-0.894000,0.018000,0.001000,0.000000,2.6814
synonymous_variant,JAK2,SILENT,NM_004972.3:p.Leu830Leu/c.2490G>A,ctG/ctA,LOW,COSM3763953(1),0.616813,0.4395,rs2230724,,,,,,chr9,5081780,5081780,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu830Leu/c.2490G>A|1132|JAK2|protein_coding|CODING|NM_004972.3|19|1),"NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4908,0.5879,0.5239,0.62,0.87,0.50,,,,,,,,,,,,,,,,
synonymous_variant,RLN1,SILENT,NM_006911.3:p.Gln113Gln/c.339G>A,caG/caA,LOW,COSM3982894(1),0.348842,0.4236,rs2273782,,,,,,chr9,5335470,5335470,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln113Gln/c.339G>A|185|RLN1|protein_coding|CODING|NM_006911.3|2|1),HUVEC:H3K27me3,,,,0.4458,0.33,0.2555,0.26,0.30,0.24,,,,,,,,,,,,,,,,
missense_variant,PDCD1LG2,MISSENSE,NM_025239.3:p.Phe229Ser/c.686T>C,tTc/tCc,MODERATE,,0.997804,1,rs7854303,0.62(T),"0.0,0.0(B,B)",-0.975(N),-1.0365(T),,chr9,5557672,5557672,T,C,hom,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe229Ser/c.686T>C|273|PDCD1LG2|protein_coding|CODING|NM_025239.3|5|1),"CD4:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,CD4:H3K4me2,CD4:H2BK120ac,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,0.998,1.00,1.00,1.00,,0.723726(N),1.000(P),"3.36,5.16(T,T)",0.0000(T),0.027,-1.094065,4.68,0.724,-0.119000,-0.005000,-0.680000,0.041000,0.033000,0.000000,7.7424
synonymous_variant,RIC1,SILENT,NM_020829.3:p.Thr1417Thr/c.4251T>G,acT/acG,LOW,COSM3763957(2),0.331869,0.5853,rs3739648,,,,-0.9088(T),,chr9,5774225,5774225,T,G,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr1380Thr/c.4140T>G|1386|RIC1|protein_coding|CODING|NM_001206557.1|25|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr1417Thr/c.4251T>G|1423|RIC1|protein_coding|CODING|NM_020829.3|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4254,0.2968,0.2853,0.25,0.14,0.31,,,0.000(P),,0.0000(T),.,0.374309,5.7,0.353,0.379000,0.127000,0.146000,0.989000,0.997000,0.988000,10.5079
synonymous_variant,ERMP1,SILENT,NM_024896.2:p.Ala100Ala/c.300C>G,gcC/gcG,LOW,COSM3750176(1),0.403554,0.7093,rs1131727,,,,,,chr9,5832728,5832728,G,C,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala100Ala/c.300C>G|904|ERMP1|protein_coding|CODING|NM_024896.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6",,,,0.5051,0.428,0.34,,,,,,,,,,,,,,,,,,,
synonymous_variant,KIAA2026,SILENT,NM_001017969.2:p.Leu605Leu/c.1815T>C,ctT/ctC,LOW,COSM4163941(1),0.820887,0.6845,rs3739649,,,,,,chr9,5968416,5968416,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu605Leu/c.1815T>C|2103|KIAA2026|protein_coding|CODING|NM_001017969.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9008,0.8847,0.9751,0.92,0.76,0.99,,,,,,,,,,,,,,,,
synonymous_variant,KIAA2026,SILENT,NM_001017969.2:p.Leu328Leu/c.982T>C,Ttg/Ctg,LOW,COSN168464,0.509585,0.5427,rs10739080,,,,,,chr9,5969249,5969249,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu328Leu/c.982T>C|2103|KIAA2026|protein_coding|CODING|NM_001017969.2|3|1),"NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5082,0.5605,0.6869,0.62,0.39,0.72,,,,,,,,,,,,,,,,
synonymous_variant,IL33,SILENT,NM_033439.3:p.Tyr163Tyr/c.489C>T,taC/taT,LOW,COSM3763959(1),0.405152,0.4375,rs10975519,,,,,,chr9,6253571,6253571,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr121Tyr/c.363C>T|228|IL33|protein_coding|CODING|NM_001199640.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr37Tyr/c.111C>T|144|IL33|protein_coding|CODING|NM_001199641.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr163Tyr/c.489C>T|270|IL33|protein_coding|CODING|NM_033439.3|6|1)",HUVEC:H3K36me3,Endometriosis,,,0.4059,0.4524,0.3231,0.33,0.38,0.30,,,,,,,,,,,,,,,,
missense_variant,TPD52L3,MISSENSE,NM_033516.5:p.Phe118Leu/c.352T>C,Ttc/Ctc,MODERATE,,0.922524,0.999,rs3847262,0.05(D),"0.885,0.991,0.885(P,D,P)",2.67(M),-1.0876(T),,chr9,6328947,6328947,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe118Leu/c.352T>C|136|TPD52L3|protein_coding|CODING|NM_001001874.2|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe118Leu/c.352T>C|132|TPD52L3|protein_coding|CODING|NM_001001875.3|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe118Leu/c.352T>C|140|TPD52L3|protein_coding|CODING|NM_033516.5|1|1)",HepG2:H3K27me3,,,,0.9765,0.9395,0.9662,0.91,0.82,0.95,,0.000001(D),0.000(P),"1.11,1.11,1.11(T,T,T)",0.0000(T),0.621,4.316141,4.41,4.41,0.418000,2.006000,3.691000,0.882000,0.942000,0.992000,10.2216
synonymous_variant,GLDC,SILENT,NM_000170.2:p.Glu167Glu/c.501G>A,gaG/gaA,LOW,,0.192093,0.0863,rs35374927,,,,,,chr9,6610326,6610326,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu167Glu/c.501G>A|1020|GLDC|protein_coding|CODING|NM_000170.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2822,0.1902,0.2753,0.24,0.15,0.28,,,,,,,,,,,,,,,,
synonymous_variant,GLDC,SILENT,NM_000170.2:p.Gly83Gly/c.249G>A,ggG/ggA,LOW,COSM1756188(3),0.249201,0.2083,rs12341698,,,,,,chr9,6645251,6645251,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly83Gly/c.249G>A|1020|GLDC|protein_coding|CODING|NM_000170.2|1|1),"HepG2:H3K4me2,H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:DNase1,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.3466,0.2464,0.2266,0.21,0.21,0.21,,,,,,,,,,,,,,,,
missense_variant,KDM4C,MISSENSE,NM_015061.3:p.Ser492Thr/c.1475G>C,aGt/aCt,MODERATE,,0.0309505,0.001,rs35826653,0.65(T),"0.016,0.036,0.037,0.001,0.005(B,B,B,B,B)",1.1(L),-1.1082(T),,chr9,6986464,6986464,G,C,hom,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser492Thr/c.1475G>C|1047|KDM4C|protein_coding|CODING|NM_001146694.1|11|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser492Thr/c.1475G>C|813|KDM4C|protein_coding|CODING|NM_001146695.1|11|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser514Thr/c.1541G>C|835|KDM4C|protein_coding|CODING|NM_001146696.1|11|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser492Thr/c.1475G>C|1056|KDM4C|protein_coding|CODING|NM_015061.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0143,0.0403,0.1064,0.09,0.02,0.13,,0.002785(N),1.000(P),"0.88,0.88,0.88,0.88,0.88,0.88,0.88(T,T,T,T,T,T,T)",0.0009(T),0.103,0.444839,5.3,-0.0835,0.655000,0.327000,-0.339000,0.067000,0.004000,0.000000,2.7012
synonymous_variant,KDM4C,SILENT,NM_015061.3:p.Asp852Asp/c.2556C>T,gaC/gaT,LOW,COSM3763963(1),0.572085,0.7143,rs3763651,,,,,,chr9,7103816,7103816,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp852Asp/c.2556C>T|1047|KDM4C|protein_coding|CODING|NM_001146694.1|18|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp852Asp/c.2556C>T|1056|KDM4C|protein_coding|CODING|NM_015061.3|18|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3,NHEK:DNase1",,,,0.4693,0.634,0.4225,0.49,0.60,0.43,,,,,,,,,,,,,,,,
missense_variant,KDM4C,MISSENSE,NM_015061.3:p.Val1039Ile/c.3115G>A,Gta/Ata,MODERATE,,0.318291,0.1151,rs913588,0.25(T),"0.057,0.006(B,B)",-0.695(N),-0.9869(T),,chr9,7174673,7174673,G,A,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1039Ile/c.3115G>A|1056|KDM4C|protein_coding|CODING|NM_015061.3|22|1),"GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3098,0.3919,0.4751,0.45,0.35,0.50,,0.005393(N),0.000(P),"1.37,1.37,1.37(T,T,T)",0.0000(T),0.129,1.740653,5.69,4.74,0.591000,2.671000,2.329000,0.875000,0.994000,0.447000,11.1935
synonymous_variant,TMEM261,SILENT,NM_033428.1:p.Leu43Leu/c.129G>T,ctG/ctT,LOW,COSM3763994(2),0.377196,0.38,rs14059,,,,,,chr9,7799606,7799606,C,A,hom,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu43Leu/c.129G>T|112|TMEM261|protein_coding|CODING|NM_033428.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.3957,0.5389,0.3897,0.36,0.28,0.40,,,,,,,,,,,,,,,,
missense_variant,TMEM261,MISSENSE,NM_033428.1:p.Pro28Thr/c.82C>A,Ccc/Acc,MODERATE,COSM3750180(4),0.374201,0.371,rs1127430,0.01(D),"0.243,0.488(B,P)",1.935(M),-0.9026(T),,chr9,7799653,7799653,G,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro28Thr/c.82C>A|112|TMEM261|protein_coding|CODING|NM_033428.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,GM12878:SIX5,H1ESC:H3K27ac,IMR90:DNase1,CD4:H3K4me3,GM12878:ATF3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.3916,0.5375,0.3926,0.35,0.28,0.39,,0.042086(N),1.000(P),0.66(T),0.0000(T),0.09,3.467238,5.34,3.45,0.645000,0.773000,-0.242000,0.139000,0.003000,0.000000,8.6511
synonymous_variant,PTPRD,SILENT,NM_002839.3:p.Gly1418Gly/c.4254G>C,ggG/ggC,LOW,,0.55631,0.6329,rs2279776,,,,,,chr9,8389364,8389364,C,G,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1008Gly/c.3024G>C|1502|PTPRD|protein_coding|CODING|NM_001040712.2|21|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1011Gly/c.3033G>C|1505|PTPRD|protein_coding|CODING|NM_001171025.1|20|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1418Gly/c.4254G>C|1912|PTPRD|protein_coding|CODING|NM_002839.3|37|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1011Gly/c.3033G>C|1505|PTPRD|protein_coding|CODING|NM_130391.3|22|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1012Gly/c.3036G>C|1506|PTPRD|protein_coding|CODING|NM_130392.3|22|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1002Gly/c.3006G>C|1496|PTPRD|protein_coding|CODING|NM_130393.3|20|1)",,,,,0.591,0.451,0.4354,0.48,0.58,0.44,,,,,,,,,,,,,,,,
synonymous_variant,PTPRD,SILENT,NM_002839.3:p.Ala1194Ala/c.3582T>C,gcT/gcC,LOW,,0.178315,0.3115,rs2281747,,,,,,chr9,8465598,8465598,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala780Ala/c.2340T>C|1502|PTPRD|protein_coding|CODING|NM_001040712.2|15|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala773Ala/c.2319T>C|1505|PTPRD|protein_coding|CODING|NM_001171025.1|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1194Ala/c.3582T>C|1912|PTPRD|protein_coding|CODING|NM_002839.3|32|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala783Ala/c.2349T>C|1505|PTPRD|protein_coding|CODING|NM_130391.3|16|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala783Ala/c.2349T>C|1506|PTPRD|protein_coding|CODING|NM_130392.3|16|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala778Ala/c.2334T>C|1496|PTPRD|protein_coding|CODING|NM_130393.3|15|1)",,,,,0.0757,0.1888,0.1561,0.17,0.18,0.16,,,,,,,,,,,,,,,,
synonymous_variant,PTPRD,SILENT,NM_002839.3:p.Ala416Ala/c.1248A>G,gcA/gcG,LOW,,0.307308,0.3919,rs7026388,,,,,,chr9,8518143,8518143,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala413Ala/c.1239A>G|1502|PTPRD|protein_coding|CODING|NM_001040712.2|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala406Ala/c.1218A>G|1505|PTPRD|protein_coding|CODING|NM_001171025.1|8|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala416Ala/c.1248A>G|1912|PTPRD|protein_coding|CODING|NM_002839.3|21|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala416Ala/c.1248A>G|1505|PTPRD|protein_coding|CODING|NM_130391.3|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala416Ala/c.1248A>G|1506|PTPRD|protein_coding|CODING|NM_130392.3|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala410Ala/c.1230A>G|1496|PTPRD|protein_coding|CODING|NM_130393.3|9|1)",,,,,0.2127,0.2695,0.164,0.23,0.38,0.16,,,,,,,,,,,,,,,,
synonymous_variant,PTPRD,SILENT,NM_002839.3:p.Thr332Thr/c.996C>T,acC/acT,LOW,,0.177316,0.2768,rs3763653,,,,,,chr9,8518395,8518395,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr329Thr/c.987C>T|1502|PTPRD|protein_coding|CODING|NM_001040712.2|9|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|1505|PTPRD|protein_coding|CODING|NM_001171025.1|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr332Thr/c.996C>T|1912|PTPRD|protein_coding|CODING|NM_002839.3|21|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr332Thr/c.996C>T|1505|PTPRD|protein_coding|CODING|NM_130391.3|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr332Thr/c.996C>T|1506|PTPRD|protein_coding|CODING|NM_130392.3|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr326Thr/c.978C>T|1496|PTPRD|protein_coding|CODING|NM_130393.3|9|1)",,,,,0.1247,0.1585,0.1024,0.13,0.17,0.11,,,,,,,,,,,,,,,,
missense_variant,LURAP1L,MISSENSE,NM_203403.1:p.Ser59Gly/c.175A>G,Agc/Ggc,MODERATE,COSM4163333(3),0.68131,0.7679,rs3750501,0.62(T),0.004(B),0.69(N),-0.9674(T),,chr9,12775889,12775889,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser59Gly/c.175A>G|228|LURAP1L|protein_coding|CODING|NM_203403.1|1|1),"NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:DNase1,HSMM:H2AZ,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,NH-A:H3K4me3,NH-A:DNase1,HMEC:CTCF,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5869,0.8372,0.8241,,,,,0.277674(N),0.997(P),0.81(T),0.0000(T),0.189,1.336728,5.19,1.22,-0.381000,0.824000,1.087000,0.601000,0.997000,0.840000,4.2654
synonymous_variant,MPDZ,SILENT,NM_003829.4:p.Ile1848Ile/c.5544T>C,atT/atC,LOW,,1,1,rs10809904,,,,,,chr9,13112116,13112116,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1844Ile/c.5532T>C|2037|MPDZ|protein_coding|CODING|NM_001261406.1|42|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1815Ile/c.5445T>C|2008|MPDZ|protein_coding|CODING|NM_001261407.1|41|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1848Ile/c.5544T>C|2041|MPDZ|protein_coding|CODING|NM_003829.4|42|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MPDZ,SILENT,NM_003829.4:p.Lys1203Lys/c.3609A>G,aaA/aaG,LOW,,0.477636,0.496,rs10756457,,,,,,chr9,13150531,13150531,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1203Lys/c.3609A>G|2037|MPDZ|protein_coding|CODING|NM_001261406.1|25|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1203Lys/c.3609A>G|2008|MPDZ|protein_coding|CODING|NM_001261407.1|25|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1203Lys/c.3609A>G|2041|MPDZ|protein_coding|CODING|NM_003829.4|25|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.4049,0.3473,0.33,0.41,0.60,0.32,,,,,,,,,,,,,,,,
synonymous_variant,MPDZ,SILENT,NM_003829.4:p.Ser918Ser/c.2754G>A,tcG/tcA,LOW,,0.393171,0.495,rs2274856,,,,,,chr9,13176312,13176312,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser918Ser/c.2754G>A|2037|MPDZ|protein_coding|CODING|NM_001261406.1|20|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser918Ser/c.2754G>A|2008|MPDZ|protein_coding|CODING|NM_001261407.1|20|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser918Ser/c.2754G>A|2041|MPDZ|protein_coding|CODING|NM_003829.4|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.3119,0.3012,0.2594,0.32,0.45,0.26,,,,,,,,,,,,,,,,
synonymous_variant,MPDZ,SILENT,NM_003829.4:p.Thr358Thr/c.1074A>G,acA/acG,LOW,,0.115815,0.0079,rs13297480,,,,,,chr9,13219570,13219570,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr358Thr/c.1074A>G|2037|MPDZ|protein_coding|CODING|NM_001261406.1|8|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr358Thr/c.1074A>G|2008|MPDZ|protein_coding|CODING|NM_001261407.1|8|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr358Thr/c.1074A>G|2041|MPDZ|protein_coding|CODING|NM_003829.4|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1084,0.1182,0.1571,0.14,0.16,0.14,,,,,,,,,,,,,,,,
missense_variant,MPDZ,MISSENSE,NM_003829.4:p.Ser92Leu/c.275C>T,tCg/tTg,MODERATE,,0.00599042,0,rs17273542,0.05(D),"0.005,0.009,0.01(B,B,B)",0.895(L),-1.0976(T),,chr9,13224491,13224491,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser92Leu/c.275C>T|2037|MPDZ|protein_coding|CODING|NM_001261406.1|4|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser92Leu/c.275C>T|2008|MPDZ|protein_coding|CODING|NM_001261407.1|4|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser92Leu/c.275C>T|2041|MPDZ|protein_coding|CODING|NM_003829.4|4|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.0174,0.0014,0.0109,0.01,0.00,0.01,,0.747694(N),1.000(D),"2.75,2.71,2.71,2.7,2.74,2.75,2.75(T,T,T,T,T,T,T)",0.0212(T),0.15,2.240861,5.86,3.03,0.655000,0.379000,3.172000,0.930000,0.022000,0.989000,8.4381
missense_variant,FREM1,MISSENSE,NM_144966.5:p.Gln2143Pro/c.6428A>C,cAa/cCa,MODERATE,,0.735024,0.7808,rs10961689,0.28(T),"0.004,0.004(B,B)",0.95(L),-1.0552(T),,chr9,14737506,14737506,T,G,het,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln679Pro/c.2036A>C|715|FREM1|protein_coding|CODING|NM_001177704.1|14|1),missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln2143Pro/c.6428A>C|2179|FREM1|protein_coding|CODING|NM_144966.5|38|1)","HepG2:H3K36me3,HSMM:H3K27me3",,,,0.6155,0.7392,0.7654,0.75,0.79,0.73,,0.195429(N),1.000(P),"2.35,2.35,2.35,2.35(T,T,T,T)",0.0000(T),0.215,0.644301,5.97,-0.727,0.482000,0.139000,-0.444000,0.328000,0.017000,0.000000,2.1251
synonymous_variant,FREM1,SILENT,NM_144966.5:p.Val1953Val/c.5859T>C,gtT/gtC,LOW,COSM3763837(1),0.13738,0.1806,rs4741426,,,,,,chr9,14747412,14747412,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val489Val/c.1467T>C|715|FREM1|protein_coding|CODING|NM_001177704.1|10|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val1953Val/c.5859T>C|2179|FREM1|protein_coding|CODING|NM_144966.5|34|1)","H1ESC:DNase1,HepG2:H3K36me3,HUVEC:H3K4me1,HMEC:DNase1,NHEK:DNase1",,,,0.1646,0.2161,0.1839,0.15,0.04,0.19,,,,,,,,,,,,,,,,
synonymous_variant,FREM1,SILENT,NM_144966.5:p.Ile1668Ile/c.5004C>A,atC/atA,LOW,COSM3763840(1),0.254193,0.0813,rs17219005,,,,,,chr9,14770658,14770658,G,T,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile204Ile/c.612C>A|715|FREM1|protein_coding|CODING|NM_001177704.1|3|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile1668Ile/c.5004C>A|2179|FREM1|protein_coding|CODING|NM_144966.5|27|1)","HUVEC:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.2393,0.2723,0.4056,0.36,0.28,0.40,,,,,,,,,,,,,,,,
synonymous_variant,FREM1,SILENT,NM_144966.5:p.Asp1597Asp/c.4791T>C,gaT/gaC,LOW,,0.847244,0.8502,rs1032474,,,,,,chr9,14775853,14775853,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1597Asp/c.4791T>C|2179|FREM1|protein_coding|CODING|NM_144966.5|26|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp133Asp/c.399T>C|715|FREM1|protein_coding|CODING|NM_001177704.1|2|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.865,0.8732,0.8847,0.87,0.82,0.89,,,,,,,,,,,,,,,,
synonymous_variant,FREM1,SILENT,NM_144966.5:p.Ala1595Ala/c.4785C>T,gcC/gcT,LOW,,0.416733,0.3294,rs10733289,,,,,,chr9,14775859,14775859,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1595Ala/c.4785C>T|2179|FREM1|protein_coding|CODING|NM_144966.5|26|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala131Ala/c.393C>T|715|FREM1|protein_coding|CODING|NM_001177704.1|2|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.4908,0.4366,0.5845,0.52,0.36,0.59,,,,,,,,,,,,,,,,
missense_variant,FREM1,MISSENSE,NM_144966.5:p.Val1502Met/c.4504G>A,Gtg/Atg,MODERATE,,0.0814696,0.0625,rs10961700,0.05(D),"0.064,0.073(B,B)",2.235(M),-1.0601(T),,chr9,14776140,14776140,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1502Met/c.4504G>A|2179|FREM1|protein_coding|CODING|NM_144966.5|26|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val38Met/c.112G>A|715|FREM1|protein_coding|CODING|NM_001177704.1|2|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.1309,0.062,0.1541,0.12,0.04,0.16,,0.038016(N),0.094(P),"0.42,0.42,2.13,0.42(T,T,T,T)",0.0007(T),0.063,2.511555,6.05,2.73,0.650000,0.857000,1.808000,0.821000,0.598000,0.875000,10.658
synonymous_variant,FREM1,SILENT,NM_144966.5:p.Ala1219Ala/c.3657A>G,gcA/gcG,LOW,COSM3982781(1),0.176917,0.2312,rs10738380,,,,,,chr9,14801687,14801687,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1219Ala/c.3657A>G|2179|FREM1|protein_coding|CODING|NM_144966.5|21|1),HepG2:H3K36me3,,,,0.2454,0.1945,0.2336,0.18,0.06,0.23,,,,,,,,,,,,,,,,
missense_variant,FREM1,MISSENSE,NM_144966.5:p.Ser803Tyr/c.2408C>A,tCt/tAt,MODERATE,COSM4163662(1),0.164137,0.0794,rs7023244,0(D),0.905(P),2.73(M),-1.2130(T),,chr9,14819370,14819370,G,T,het,missense_variant(MODERATE|MISSENSE|tCt/tAt|p.Ser803Tyr/c.2408C>A|2179|FREM1|protein_coding|CODING|NM_144966.5|15|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.2055,0.255,0.2525,0.21,0.12,0.25,,0.000210(D),0.000(P),"1.68,1.68,1.68(T,T,T)",0.0000(T),0.638,4.005732,5.86,5.86,0.563000,2.771000,8.582000,0.383000,0.993000,1.000000,20.1931
missense_variant,TTC39B,MISSENSE,NM_152574.2:p.Ile420Val/c.1258A>G,Att/Gtt,MODERATE,COSM455697(1),0.772564,0.9236,rs1407977,0.55(T),"0.012,0.007,0.01,0.007(B,B,B,B)",2.24(M),-0.9872(T),,chr9,15188106,15188106,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile418Val/c.1252A>G|680|TTC39B|protein_coding|CODING|NM_001168339.1|14|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile407Val/c.1219A>G|669|TTC39B|protein_coding|CODING|NM_001168340.1|13|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile351Val/c.1051A>G|613|TTC39B|protein_coding|CODING|NM_001168341.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile255Val/c.763A>G|517|TTC39B|protein_coding|CODING|NM_001168342.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile420Val/c.1258A>G|682|TTC39B|protein_coding|CODING|NM_152574.2|14|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7321,0.7089,0.5964,0.66,0.80,0.59,,0.000029(N),0.000(P),"0.93,0.99,0.65,0.65,0.99,0.99(T,T,T,T,T,T)",0.0000(T),0.081,-0.491464,5.4,2.85,-1.067000,0.342000,1.742000,0.226000,1.000000,1.000000,12.6299
missense_variant,CCDC171,MISSENSE,NM_173550.2:p.Lys1069Arg/c.3206A>G,aAa/aGa,MODERATE,COSM3982787(1),0.474441,0.3651,rs1539172,1(T),"0.0,0.002,0.0(B,B,B)",-0.145(N),-0.9449(T),,chr9,15784631,15784631,A,G,hom,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1069Arg/c.3206A>G|1326|CCDC171|protein_coding|CODING|NM_173550.2|21|1),,,,,0.5675,0.3703,0.4742,0.52,0.56,0.50,,0.000004(N),0.000(P),"-0.34,-0.34(T,T)",0.0000(T),0.181,-0.269904,5.04,4.13,-0.119000,1.268000,3.377000,0.865000,1.000000,1.000000,7.6667
missense_variant,CNTLN,MISSENSE,NM_017738.3:p.Thr284Ala/c.850A>G,Acc/Gcc,MODERATE,COSM3982789(2),0.334265,0.3502,rs3808795,,"0.0,0.0,0.0(B,B,B)",-0.755(N),-0.9061(T),,chr9,17273731,17273731,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr284Ala/c.850A>G|391|CNTLN|protein_coding|CODING|NM_001114395.2|6|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr284Ala/c.850A>G|1406|CNTLN|protein_coding|CODING|NM_017738.3|6|1),splice_region_variant(LOW|||c.850A>G|391|CNTLN|protein_coding|CODING|NM_001114395.2|6|1),splice_region_variant(LOW|||c.850A>G|1406|CNTLN|protein_coding|CODING|NM_017738.3|6|1)",,,,,0.4376,0.245,0.2853,0.28,0.31,0.27,,,1.000(P),"2.79,2.79,2.79,2.79(T,T,T,T)",0.0000(T),0.007,-0.519449,4.48,2.17,-0.684000,0.456000,0.744000,0.871000,0.999000,0.565000,5.2808
synonymous_variant,CNTLN,SILENT,NM_017738.3:p.Asp609Asp/c.1827C>T,gaC/gaT,LOW,,0.949481,1,rs1442527,,,,,,chr9,17342383,17342383,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp609Asp/c.1827C>T|1406|CNTLN|protein_coding|CODING|NM_017738.3|12|1),"HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.999,0.9885,0.998,0.95,0.84,1.00,,,,,,,,,,,,,,,,
missense_variant,CNTLN,MISSENSE,NM_017738.3:p.Thr695Ile/c.2084C>T,aCt/aTt,MODERATE,,0.780551,0.8313,rs7035276,0.27(T),"0.0,0.0,0.0(B,B,B)",-1.5(N),-1.0413(T),,chr9,17394536,17394536,C,T,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr695Ile/c.2084C>T|1406|CNTLN|protein_coding|CODING|NM_017738.3|15|1),IMR90:H3K36me3,,,,0.7485,0.8271,0.8708,0.82,0.70,0.88,,,0.711(P),"2.31,2.31,2.57(T,T,T)",0.0000(T),0.017,-0.387479,5.39,1.24,-0.988000,0.364000,0.325000,0.686000,0.997000,0.863000,1.3262
synonymous_variant,CNTLN,SILENT,NM_017738.3:p.His848His/c.2544T>C,caT/caC,LOW,,0.841054,0.8323,rs3739489,,,,,,chr9,17394996,17394996,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His848His/c.2544T>C|1406|CNTLN|protein_coding|CODING|NM_017738.3|15|1),"H1ESC:DNase1,IMR90:H3K36me3",,,,0.8896,0.8501,0.9225,0.87,0.79,0.91,,,,,,,,,,,,,,,,
synonymous_variant,CNTLN,SILENT,NM_017738.3:p.Thr897Thr/c.2691G>A,acG/acA,LOW,COSM3982792(1),0.838858,0.8304,rs2780211,,,,,,chr9,17409366,17409366,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr897Thr/c.2691G>A|1406|CNTLN|protein_coding|CODING|NM_017738.3|16|1),,,,,0.8609,0.8545,0.9205,0.87,0.78,0.91,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL1,SILENT,NM_001040272.5:p.Thr451Thr/c.1353A>G,acA/acG,LOW,COSM3982794(1),0.277157,0.2748,rs13293151,,,,,,chr9,18681821,18681821,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr451Thr/c.1353A>G|1762|ADAMTSL1|protein_coding|CODING|NM_001040272.5|12|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr451Thr/c.1353A>G|525|ADAMTSL1|protein_coding|CODING|NM_052866.4|12|1)","NH-A:H3K36me3,HSMM:H3K36me3",,,,0.319,0.3069,0.4185,0.33,0.17,0.41,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL1,SILENT,NM_001040272.5:p.Ile871Ile/c.2613A>C,atA/atC,LOW,COSM3763851(1),0.972045,1,rs1549986,,,,,,chr9,18776840,18776840,A,C,hom,synonymous_variant(LOW|SILENT|atA/atC|p.Ile871Ile/c.2613A>C|1762|ADAMTSL1|protein_coding|CODING|NM_001040272.5|19|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,K562:H3K27me3",,,,0.9836,0.928,0.9294,0.94,0.98,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL1,SILENT,NM_001040272.5:p.Ser1047Ser/c.3141T>C,tcT/tcC,LOW,COSM455733(6),0.689297,0.7054,rs7033684,,,,,,chr9,18777368,18777368,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1047Ser/c.3141T>C|1762|ADAMTSL1|protein_coding|CODING|NM_001040272.5|19|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,K562:H3K27me3",,,,0.7219,0.5764,0.7038,0.71,0.71,0.72,,,,,,,,,,,,,,,,
missense_variant,FAM154A,MISSENSE,NM_153707.3:p.Pro63Ser/c.187C>T,Cct/Tct,MODERATE,COSM1685399(2),0.760184,0.5685,rs6475273,0.89(T),0.001(B),-0.665(N),-0.9833(T),,chr9,18950787,18950787,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro63Ser/c.187C>T|73|FAM154A|protein_coding|CODING|NM_001287050.1|2|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro63Ser/c.187C>T|474|FAM154A|protein_coding|CODING|NM_153707.3|2|1),5_prime_UTR_variant(MODIFIER||9|c.-9C>T|409|FAM154A|protein_coding|CODING|NM_001287049.1|2|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7832,0.7003,0.7734,0.82,0.89,0.78,,0.933798(N),1.000(P),"1.64,1.64(T,T)",0.0000(T),0.029,-2.096667,5.26,-0.118,-0.361000,0.006000,-0.172000,0.122000,0.030000,0.000000,1.3935
missense_variant,FAM154A,MISSENSE,NM_153707.3:p.Lys27Glu/c.79A>G,Aaa/Gaa,MODERATE,COSM3763852(1),0.478035,0.5169,rs7021572,0.18(T),0.069(B),1.15(L),-1.0070(T),,chr9,18950895,18950895,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys27Glu/c.79A>G|73|FAM154A|protein_coding|CODING|NM_001287050.1|2|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys27Glu/c.79A>G|474|FAM154A|protein_coding|CODING|NM_153707.3|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||409|FAM154A|protein_coding|CODING|NM_001287049.1|2|1),5_prime_UTR_variant(MODIFIER||117|c.-117A>G|409|FAM154A|protein_coding|CODING|NM_001287049.1|2|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6084,0.5865,0.6909,0.54,0.22,0.70,,0.119061(N),0.000(P),"1.62,1.62(T,T)",0.0000(T),0.052,2.252970,5.54,0.28,-0.291000,0.371000,1.033000,0.973000,1.000000,0.999000,7.7661
synonymous_variant,HAUS6,SILENT,NM_017645.4:p.Leu509Leu/c.1527A>G,ttA/ttG,LOW,,0.352037,0.38,rs13302748,,,,,,chr9,19063108,19063108,T,C,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu474Leu/c.1422A>G|920|HAUS6|protein_coding|CODING|NM_001270890.1|14|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu509Leu/c.1527A>G|955|HAUS6|protein_coding|CODING|NM_017645.4|14|1),downstream_gene_variant(MODIFIER||546|||SCARNA8||NON_CODING|NR_003009.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4325,0.4035,0.4493,0.37,0.20,0.45,,,,,,,,,,,,,,,,
synonymous_variant,HAUS6,SILENT,NM_017645.4:p.Pro407Pro/c.1221C>G,ccC/ccG,LOW,COSM3982799(1),0.361022,0.3681,rs13286328,,,,,,chr9,19076673,19076673,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro372Pro/c.1116C>G|920|HAUS6|protein_coding|CODING|NM_001270890.1|11|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro407Pro/c.1221C>G|955|HAUS6|protein_coding|CODING|NM_017645.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4274,0.4049,0.4493,0.38,0.24,0.45,,,,,,,,,,,,,,,,
synonymous_variant,HAUS6,SILENT,NM_017645.4:p.Val314Val/c.942C>G,gtC/gtG,LOW,,0.0061901,0,rs71508773,,,,,,chr9,19080599,19080599,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val314Val/c.942C>G|920|HAUS6|protein_coding|CODING|NM_001270890.1|9|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val314Val/c.942C>G|955|HAUS6|protein_coding|CODING|NM_017645.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.002,0.0159,0.0169,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,DENND4C,MISSENSE,NM_017925.5:p.Ile241Leu/c.721A>C,Att/Ctt,MODERATE,,0.0115815,0,rs41269019,0.41(T),0.915(D),1.62(L),-0.8705(T),,chr9,19290794,19290794,A,C,het,"missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile241Leu/c.721A>C|1909|DENND4C|protein_coding|CODING|NM_017925.5|5|1),non_coding_exon_variant(MODIFIER|||n.807A>C||DENND4C||CODING|NR_073201.2|5|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0274,0.0338,0.02,0.01,0.03,,0.002531(U),1.000(D),,0.0935(T),0.7,4.716165,5.44,5.44,0.482000,2.287000,6.109000,0.944000,1.000000,1.000000,15.6559
missense_variant,DENND4C,MISSENSE,NM_017925.5:p.Thr1266Ala/c.3796A>G,Act/Gct,MODERATE,,0.0477236,0.003,rs17818730,0.45(T),"0.001,0.001,0.001,0.0(B,B,B,B)",0(N),-0.9599(T),,chr9,19346710,19346710,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr1266Ala/c.3796A>G|1909|DENND4C|protein_coding|CODING|NM_017925.5|22|1),non_coding_exon_variant(MODIFIER|||n.3748A>G||DENND4C||CODING|NR_073201.2|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0215,0.1787,0.0835,0.06,0.02,0.08,,0.786893(N),1.000(P),"2.02,2.02,3.72(T,T,T)",0.0001(T),0.077,-0.650347,5.72,-2.13,0.528000,-0.181000,-1.082000,0.012000,0.000000,0.000000,1.6169
synonymous_variant,SLC24A2,SILENT,NM_020344.3:p.Arg401Arg/c.1201A>C,Agg/Cgg,LOW,,0.865615,1,rs2383101,,,,,,chr9,19576949,19576949,T,G,hom,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg384Arg/c.1150A>C|644|SLC24A2|protein_coding|CODING|NM_001193288.2|4|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg401Arg/c.1201A>C|661|SLC24A2|protein_coding|CODING|NM_020344.3|5|1)",NHEK:H3K27me3,,,,0.9417,0.8473,0.7833,0.79,0.79,0.79,,,,,,,,,,,,,,,,
synonymous_variant,SLC24A2,SILENT,NM_020344.3:p.Pro320Pro/c.960A>G,ccA/ccG,LOW,,0.78155,0.8671,rs4977308,,,,,,chr9,19622268,19622268,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro320Pro/c.960A>G|644|SLC24A2|protein_coding|CODING|NM_001193288.2|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro320Pro/c.960A>G|661|SLC24A2|protein_coding|CODING|NM_020344.3|2|1)",,,,,0.7669,0.8156,0.7227,0.73,0.76,0.72,,,,,,,,,,,,,,,,
missense_variant,FOCAD,MISSENSE,NM_017794.4:p.Thr718Ser/c.2153C>G,aCt/aGt,MODERATE,,1,1,rs7875872,1(T),0.0(B),-0.895(N),-0.9392(T),,chr9,20866974,20866974,C,G,hom,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr718Ser/c.2153C>G|1801|FOCAD|protein_coding|CODING|NM_017794.4|20|1),,,,,1,1,1,,,,,0.032839(N),1.000(P),"-0.24,-0.24(T,T)",0.0000(T),0.065,-0.723394,5.46,4.54,-0.225000,0.758000,1.723000,0.882000,0.029000,0.747000,9.7474
missense_variant,FOCAD,MISSENSE,NM_017794.4:p.Thr1373Ala/c.4117A>G,Aca/Gca,MODERATE,COSM150587(3),0.335663,0.4355,rs3206852,0.3(T),0.001(B),1.39(L),-0.9113(T),,chr9,20953049,20953049,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr1373Ala/c.4117A>G|1801|FOCAD|protein_coding|CODING|NM_017794.4|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3415,0.2695,0.4006,0.37,0.29,0.42,,0.008168(N),0.996(P),"1.98,1.98(T,T)",0.0000(T),0.045,1.267734,6.07,3.73,0.533000,1.107000,1.718000,0.996000,0.998000,1.000000,2.4306
missense_variant,FOCAD,MISSENSE,NM_017794.4:p.Lys1668Glu/c.5002A>G,Aag/Gag,MODERATE,,0.76857,0.9385,rs4977881,1(T),0.0(B),-1.25(N),-0.9722(T),,chr9,20988426,20988426,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1668Glu/c.5002A>G|1801|FOCAD|protein_coding|CODING|NM_017794.4|43|1),splice_region_variant(LOW|||c.5002A>G|1801|FOCAD|protein_coding|CODING|NM_017794.4|43|1)","NH-A:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.6503,0.7176,0.7147,0.74,0.79,0.72,,0.000156(N),1.000(P),"2.4,2.4(T,T)",0.0000(T),0.226,-0.895031,6.16,5.26,-0.128000,1.638000,1.576000,0.100000,0.923000,0.956000,12.809
missense_variant,PTPLAD2,MISSENSE,NM_001010915.3:p.Leu91Phe/c.271C>T,Ctc/Ttc,MODERATE,,0.00139776,0,rs61736077,0.02(D),0.954(D),1.12(L),-1.0357(T),,chr9,21016009,21016009,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu91Phe/c.271C>T|232|PTPLAD2|protein_coding|CODING|NM_001010915.3|4|1),splice_region_variant(LOW|||c.271C>T|232|PTPLAD2|protein_coding|CODING|NM_001010915.3|4|1)","CD4:H3K36me3,NHEK:H3K36me3",,,,0,0.0043,0.004,0.00,0.00,0.01,,0.000746(D),0.994(D),"1.46,1.46(T,T)",0.0869(T),0.419,2.298349,5.92,5.92,0.561000,2.813000,3.095000,0.984000,1.000000,1.000000,10.1475
missense_variant,PTPLAD2,MISSENSE,NM_001010915.3:p.Thr36Ala/c.106A>G,Aca/Gca,MODERATE,COSM3982802(1),0.34405,0.503,rs2298260,0.5(T),0.005(B),0.035(N),-0.9362(T),,chr9,21029330,21029330,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr36Ala/c.106A>G|232|PTPLAD2|protein_coding|CODING|NM_001010915.3|2|1),NHEK:H3K36me3,,,,0.2955,0.389,0.2883,0.27,0.26,0.27,,0.000041(N),0.127(P),"2.01,2.01(T,T)",0.0000(T),0.142,1.638463,5.3,4.12,0.533000,0.913000,2.608000,0.998000,0.999000,1.000000,10.7399
synonymous_variant,IFNB1,SILENT,NM_002176.2:p.Tyr51Tyr/c.153C>T,taC/taT,LOW,COSM3982803(2),0.328275,0.3204,rs1051922,,,,,,chr9,21077716,21077716,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr51Tyr/c.153C>T|187|IFNB1|protein_coding|CODING|NM_002176.2|1|1),HUVEC:H3K27me3,,,,0.2597,0.2608,0.3579,0.34,0.37,0.33,,,,,,,,,,,,,,,,
missense_variant,IFNE,MISSENSE,NM_176891.4:p.Gln46His/c.138A>C,caA/caC,MODERATE,,0.0497204,0.0248,rs1125488,0(D),0.05(B),1.43(L),-0.9245(T),,chr9,21481556,21481556,T,G,het,"missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln46His/c.138A>C|208|IFNE|protein_coding|CODING|NM_176891.4|1|1),intron_variant(MODIFIER|||n.211-4265A>C||MIR31HG||NON_CODING|NR_027054.1|1|1)","NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0603,0.1009,0.0547,0.06,0.04,0.07,,0.690404(U),1.000(N),3.94(T),0.0003(T),0.058,0.619629,4.73,-8.88,0.533000,-1.427000,-2.452000,0.254000,0.000000,0.000000,5.6347
missense_variant,MTAP,MISSENSE,NM_002451.3:p.Val56Ile/c.166G>A,Gtc/Atc,MODERATE,COSM3763862(1),0.388179,0.4375,rs7023954,0.09(T),"0.182,0.072,0.027(B,B,B)",2.38(M),-1.1240(T),,chr9,21816758,21816758,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val56Ile/c.166G>A|283|MTAP|protein_coding|CODING|NM_002451.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2301,0.4438,0.3946,0.42,0.43,0.41,,0.000000(D),0.000(P),-2.6(D),0.0000(T),0.279,3.405531,5.44,5.44,0.561000,2.711000,6.620000,0.926000,1.000000,1.000000,18.3922
synonymous_variant,MTAP,SILENT,NM_002451.3:p.Arg187Arg/c.561C>T,cgC/cgT,LOW,,0.0407348,0.0377,rs10965163,,,,,,chr9,21854740,21854740,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg187Arg/c.561C>T|283|MTAP|protein_coding|CODING|NM_002451.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.0501,0.0519,0.0746,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,IZUMO3,SILENT,NM_001271706.1:p.Pro45Pro/c.135C>T,ccC/ccT,LOW,,0.736621,0.8115,rs6475797,,,,,,chr9,24545513,24545513,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro45Pro/c.135C>T|233|IZUMO3|protein_coding|CODING|NM_001271706.1|1|1),,,,,0.726,0.572,0.507,,,,,,,,,,,,,,,,,,,
missense_variant,TUSC1,MISSENSE,NM_001004125.2:p.Ser208Ala/c.622T>G,Tct/Gct,MODERATE,COSM3763864(5),0.166334,0.1577,rs72631815,0.87(T),0.003(B),1.39(L),-0.9835(T),,chr9,25677698,25677698,A,C,het,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser208Ala/c.622T>G|212|TUSC1|protein_coding|CODING|NM_001004125.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.184,0.1744,0.326,0.19,0.06,0.26,,0.785795(U),1.000(P),0.82(T),0.0000(T),0.014,-0.206320,3.71,-1.1,0.379000,-0.521000,-0.236000,0.005000,0.000000,0.000000,4.2113
synonymous_variant,TUSC1,SILENT,NM_001004125.2:p.Ala129Ala/c.387A>G,gcA/gcG,LOW,COSM3750169(7),0.427516,0.2748,rs35110225,,,,,,chr9,25677933,25677933,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala129Ala/c.387A>G|212|TUSC1|protein_coding|CODING|NM_001004125.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.3303,0.4424,0.5785,0.56,0.52,0.58,,,,,,,,,,,,,,,,
missense_variant,TUSC1,MISSENSE,NM_001004125.2:p.Asn123Asp/c.367A>G,Aac/Gac,MODERATE,COSM3750170(9),0.916334,0.8413,rs34498078,0.64(T),0.0(B),-1.5(N),-1.0041(T),,chr9,25677953,25677953,T,C,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn123Asp/c.367A>G|212|TUSC1|protein_coding|CODING|NM_001004125.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HSMM:H2AZ,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.9407,0.8228,0.9294,0.96,0.99,0.94,,0.873798(N),1.000(P),1.02(T),0.0000(T),0.017,-1.169980,3.77,2.81,-0.355000,0.568000,0.360000,0.333000,0.049000,0.029000,4.78
synonymous_variant,TUSC1,SILENT,NM_001004125.2:p.Ala66Ala/c.198C>G,gcC/gcG,LOW,COSM4163713(1),0.176717,0.1151,rs72631814,,,,,,chr9,25678122,25678122,G,C,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala66Ala/c.198C>G|212|TUSC1|protein_coding|CODING|NM_001004125.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.1728,0.1772,0.3002,0.19,0.10,0.23,,,,,,,,,,,,,,,,
missense_variant,LOC100506422,MISSENSE,NM_001004352.2:p.Ser109Ile/c.326G>T,aGt/aTt,MODERATE,,0.596446,0.8998,rs7019716,,,,,,chr9,26116150,26116150,G,T,het,missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser109Ile/c.326G>T|141|LOC100506422|protein_coding|CODING|NM_001004352.2|6|1),,,,,0.5879,0.5389,0.2952,,,,,,,,,,,,,,,,,,,
synonymous_variant,LOC100506422,SILENT,NM_001004352.2:p.Arg111Arg/c.333G>A,agG/agA,LOW,,0.0946486,0.1448,rs12376729,,,,,,chr9,26116157,26116157,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg111Arg/c.333G>A|141|LOC100506422|protein_coding|CODING|NM_001004352.2|6|1),,,,,0.1155,0.0548,0.0785,,,,,,,,,,,,,,,,,,,
missense_variant,TEK,MISSENSE,NM_000459.4:p.Gln346Pro/c.1037A>C,cAg/cCg,MODERATE,,0.989816,0.999,rs682632,1(T),"0.0,0.0(B,B)",-0.205(N),-0.9341(T),,chr9,27183463,27183463,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln346Pro/c.1037A>C|1124|TEK|protein_coding|CODING|NM_000459.4|8|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln303Pro/c.908A>C|1081|TEK|protein_coding|CODING|NM_001290077.1|7|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln199Pro/c.596A>C|976|TEK|protein_coding|CODING|NM_001290078.1|6|1)","NHEK:H3K4me1,HUVEC:H3K36me3,NH-A:DNase1,IMR90:H3K36me3",,,,0.9959,0.9856,0.9662,0.97,0.99,0.96,,0.006129(N),0.999(P),"-0.81,0.69,-0.81,2.87(T,T,T,T)",0.0000(T),0.485,1.402467,5.52,5.52,-0.121000,1.484000,1.090000,0.923000,0.998000,0.428000,13.3249
synonymous_variant,TEK,SILENT,NM_000459.4:p.Ser654Ser/c.1962A>G,tcA/tcG,LOW,COSM3763867(1),0.414337,0.3998,rs386602523,,,,,,chr9,27202870,27202870,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser654Ser/c.1962A>G|1124|TEK|protein_coding|CODING|NM_000459.4|13|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser611Ser/c.1833A>G|1081|TEK|protein_coding|CODING|NM_001290077.1|12|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser507Ser/c.1521A>G|976|TEK|protein_coding|CODING|NM_001290078.1|11|1)","HUVEC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3",,,,0.4029,0.5086,0.4811,0.45,0.38,0.48,,,,,,,,,,,,,,,,
synonymous_variant,TEK,SILENT,NM_000459.4:p.Tyr992Tyr/c.2976T>C,taT/taC,LOW,COSM3763870(1),0.153754,0.1925,rs3737188,,,,,,chr9,27213580,27213580,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr992Tyr/c.2976T>C|1124|TEK|protein_coding|CODING|NM_000459.4|18|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr949Tyr/c.2847T>C|1081|TEK|protein_coding|CODING|NM_001290077.1|17|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr844Tyr/c.2532T>C|976|TEK|protein_coding|CODING|NM_001290078.1|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.1677,0.1787,0.2008,0.18,0.10,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TEK,SILENT,NM_000459.4:p.Gly1041Gly/c.3123G>A,ggG/ggA,LOW,COSM3763872(2),0.224241,0.1736,rs2273719,,,,,,chr9,27220066,27220066,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1041Gly/c.3123G>A|1124|TEK|protein_coding|CODING|NM_000459.4|21|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly998Gly/c.2994G>A|1081|TEK|protein_coding|CODING|NM_001290077.1|20|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly893Gly/c.2679G>A|976|TEK|protein_coding|CODING|NM_001290078.1|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1922,0.1614,0.1332,0.22,0.35,0.16,,,,,,,,,,,,,,,,
missense_variant,IFNK,MISSENSE,NM_020124.2:p.Lys133Glu/c.397A>G,Aag/Gag,MODERATE,,0.933506,0.996,rs700785,1(T),0.0(B),-1.665(N),-1.0100(T),,chr9,27524731,27524731,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys133Glu/c.397A>G|207|IFNK|protein_coding|CODING|NM_020124.2|1|1),intron_variant(MODIFIER|||c.-199+4822T>C|216|MOB3B|protein_coding|CODING|NM_024761.4|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,NHEK:DNase1",,,,0.9601,0.9755,0.9891,0.92,0.80,0.99,,0.503331(N),1.000(P),4.03(T),0.0000(T),0.02,-1.134530,5.88,1.2,-2.420000,-0.270000,-0.062000,0.002000,0.000000,0.000000,10.7188
synonymous_variant,ACO1,SILENT,NM_001278352.1:p.Glu421Glu/c.1263A>G,gaA/gaG,LOW,COSM3763878(2),0.353834,0.5516,rs3780473,,,,,,chr9,32425910,32425910,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu421Glu/c.1263A>G|889|ACO1|protein_coding|CODING|NM_001278352.1|12|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu421Glu/c.1263A>G|889|ACO1|protein_coding|CODING|NM_002197.2|11|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,IMR90:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K56ac,K562:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4me1,IMR90:H3K4ac,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac,GM06990:H3K36me3,IMR90:H4K8ac",,,,0.3016,0.3386,0.336,0.33,0.27,0.35,,,,,,,,,,,,,,,,
synonymous_variant,DDX58,SILENT,NM_014314.3:p.Thr903Thr/c.2709A>G,acA/acG,LOW,,0.0401358,0,rs10970987,,,,,,chr9,32457189,32457189,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr903Thr/c.2709A>G|925|DDX58|protein_coding|CODING|NM_014314.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0409,0.121,0.0686,0.06,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,DDX58,SILENT,NM_014314.3:p.Val800Val/c.2400A>C,gtA/gtC,LOW,COSM3763879(1),0.314297,0.4524,rs3205166,,,,,,chr9,32459450,32459450,T,G,het,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val800Val/c.2400A>C|925|DDX58|protein_coding|CODING|NM_014314.3|17|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2515,0.3602,0.3529,0.32,0.24,0.36,,,,,,,,,,,,,,,,
missense_variant,DDX58,MISSENSE,NM_014314.3:p.Asp580Glu/c.1740T>A,gaT/gaA,MODERATE,COSM3763881(1),0.0567093,0.0129,rs17217280,0.42(T),"0.766,0.489,0.037,0.215(P,P,B,B)",2.435(M),-1.0545(T),,chr9,32480251,32480251,A,T,het,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp580Glu/c.1740T>A|925|DDX58|protein_coding|CODING|NM_014314.3|12|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0562,0.1009,0.1362,0.11,0.03,0.15,,0.000261(D),0.007(P),"1.02,1.02,1.02,1.02,1.02(T,T,T,T,T)",0.0014(T),0.319,4.172154,4.67,4.67,0.533000,2.051000,1.645000,0.934000,1.000000,1.000000,13.7947
synonymous_variant,DNAJA1,SILENT,NM_001539.2:p.Ala30Ala/c.90T>C,gcT/gcC,LOW,COSM4163726(1),0.597843,0.5744,rs20583,,,,,,chr9,33026572,33026572,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala30Ala/c.90T>C|397|DNAJA1|protein_coding|CODING|NM_001539.2|2|1),"H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K4me3",,,,0.4448,0.4784,0.5119,0.61,0.79,0.52,,,,,,,,,,,,,,,,
synonymous_variant,B4GALT1,SILENT,NM_001497.3:p.His199His/c.597C>T,caC/caT,LOW,,0.0473243,0.0585,rs1065765,,,,,,chr9,33135238,33135238,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His199His/c.597C>T|398|B4GALT1|protein_coding|CODING|NM_001497.3|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079717.1,,0.0276,0.0331,0.0626,0.06,0.04,0.07,,,,,,,,,,,,,,,,
missense_variant,BAG1,MISSENSE,NM_004323.5:p.Gly45Arg/c.133G>C,Ggg/Cgg,MODERATE,COSM3750171(2),0.979433,1,rs1071545,0.91(T),0.0(B),0(N),-0.9598(T),,chr9,33264540,33264540,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly45Arg/c.133G>C|345|BAG1|protein_coding|CODING|NM_004323.5|1|1),5_prime_UTR_variant(MODIFIER||213|c.-213G>C|230|BAG1|protein_coding|CODING|NM_001172415.1|1|1),upstream_gene_variant(MODIFIER||337||171|CHMP5|protein_coding|CODING|NM_001195536.1||1),upstream_gene_variant(MODIFIER||337||219|CHMP5|protein_coding|CODING|NM_016410.5||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Cmyc,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9942,1,0.98,0.95,1.00,,0.939035(N),0.999(P),,0.0000(T),0.114,0.263435,3.62,3.62,-0.674000,1.113000,0.985000,0.006000,0.040000,0.798000,9.2895
missense_variant,AQP7,MISSENSE,NM_001170.1:p.Gly180Arg/c.538G>A,Ggg/Agg,MODERATE,COSM4007158(3),,,rs202183465,0.06(T),"0.077,0.077,0.032,0.047(B,B,B,B)",2.93(M),0.3966(D),,chr9,33385852,33385852,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly180Arg/c.538G>A|342|AQP7|protein_coding|CODING|NM_001170.1|7|1),"GM06990:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.003293(N),0.000(P),"-1.93,-1.93,-1.93,-1.93,-1.93,-1.93,-1.93,-1.93,-1.93(D,D,D,D,D,D,D,D,D)",0.6473(D),0.799,2.060207,5.55,4.66,0.645000,1.349000,5.115000,0.231000,0.418000,0.319000,10.2555
missense_variant,AQP7,MISSENSE,NM_001170.1:p.Ala176Glu/c.527C>A,gCg/gAg,MODERATE,,,,rs62542746,0.08(T),"0.009,0.023,0.006,0.014(B,B,B,B)",,-1.0627(T),,chr9,33385863,33385863,G,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala176Glu/c.527C>A|342|AQP7|protein_coding|CODING|NM_001170.1|7|1),splice_region_variant(LOW|||c.527C>A|342|AQP7|protein_coding|CODING|NM_001170.1|7|1)","GM06990:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.011357(N),1.000(P),"-1.97,-1.97,-1.97,-1.97,-1.97,-1.97,-1.97,-1.97,-1.97(D,D,D,D,D,D,D,D,D)",0.0212(T),0.752,0.970522,5.55,1.57,-0.308000,0.051000,2.102000,0.048000,0.040000,0.017000,7.4533
synonymous_variant,AQP7,SILENT,NM_001170.1:p.Val152Val/c.456C>T,gtC/gtT,LOW,COSM4163739(4),,,rs76209395,,,,,,chr9,33386144,33386144,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val152Val/c.456C>T|342|AQP7|protein_coding|CODING|NM_001170.1|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,AQP7,MISSENSE,NM_001170.1:p.Val152Phe/c.454G>T,Gtc/Ttc,MODERATE,COSM1756133(7),,,rs76608797,0.5(T),"0.003,0.002,0.009,0.002(B,B,B,B)",0.38(N),-0.8604(T),,chr9,33386146,33386146,C,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val152Phe/c.454G>T|342|AQP7|protein_coding|CODING|NM_001170.1|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.589625(N),1.000(N),"-2.04,-2.04,-2.04,-2.04,-2.04,-2.04,-2.04,-2.04,-2.04(D,D,D,D,D,D,D,D,D)",0.3088(T),0.54,1.137210,3.98,-1.55,-0.320000,-0.272000,0.006000,0.055000,0.001000,0.000000,4.6196
missense_variant,AQP7,MISSENSE,NM_001170.1:p.Gln145Glu/c.433C>G,Cag/Gag,MODERATE,COSM4163743(4),,,rs79172651,1(T),"0.002,0.0,0.001,0.001(B,B,B,B)",,-0.9742(T),,chr9,33386167,33386167,G,C,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln145Glu/c.433C>G|342|AQP7|protein_coding|CODING|NM_001170.1|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.314767(N),1.000(N),"2.82,2.82,2.82,2.82,2.82,2.82,2.82,2.82,2.82(T,T,T,T,T,T,T,T,T)",0.0094(T),0.386,-0.242974,3.98,-5.35,-0.177000,-1.119000,-0.256000,0.698000,0.000000,0.000000,4.523
splice_donor_variant,AQP7,protein_coding,NM_001170.1:c.407T>C,,HIGH,COSM3720837(1),,,,,,,,AQP7:1.00(1);,chr9,33386400,33386400,A,G,het,"splice_donor_variant(HIGH|||c.407T>C|342|AQP7|protein_coding|CODING|NM_001170.1|5|1),intron_variant(MODIFIER|||c.406+2T>C|342|AQP7|protein_coding|CODING|NM_001170.1|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(D),,,.,1.509392,4.42,4.42,0.524000,2.001000,8.521000,0.338000,0.987000,1.000000,8.3059
missense_variant,AQP7,MISSENSE,NM_001170.1:p.Tyr115His/c.343T>C,Tat/Cat,MODERATE,COSM1716042(6),,,rs74668961,0.02(D),"0.998,0.802,0.802,0.616,0.707(D,P,P,P,P)",3.9(H),1.0183(D),,chr9,33386465,33386465,A,G,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr115His/c.343T>C|342|AQP7|protein_coding|CODING|NM_001170.1|5|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),"-3.04,-3.04,-3.04,-3.04,-3.04,-3.04,-3.04,-3.04,-3.04(D,D,D,D,D,D,D,D,D)",0.9071(D),0.873,3.796760,4.42,4.42,0.524000,2.001000,8.545000,0.585000,0.147000,1.000000,11.9819
synonymous_variant,AQP7,SILENT,NM_001170.1:p.Pro113Pro/c.339G>A,ccG/ccA,LOW,COSM4007165(2),0.000399361,0,rs78695486,,,,,,chr9,33386469,33386469,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro113Pro/c.339G>A|342|AQP7|protein_coding|CODING|NM_001170.1|5|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0,0.001,,,,,,,,,,,,,,,,,,,
missense_variant,AQP7,MISSENSE,NM_001170.1:p.Ala100Thr/c.298G>A,Gct/Act,MODERATE,COSM1716043(2),,,rs77962308,0.42(T),"0.008,0.077,0.032,0.047,0.019(B,B,B,B,B)",,-0.5869(T),,chr9,33386510,33386510,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala100Thr/c.298G>A|342|AQP7|protein_coding|CODING|NM_001170.1|5|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000549(N),1.000(P),"-2.52,-2.52,-2.52,-2.52,-2.52,-2.52,-2.52,-2.52,-2.52(D,D,D,D,D,D,D,D,D)",0.4516(T),0.523,-0.190807,4.42,-2.38,-0.818000,-0.529000,-1.493000,0.002000,0.017000,0.000000,9.7549
synonymous_variant,AQP7,SILENT,NM_001170.1:p.Phe99Phe/c.297T>C,ttT/ttC,LOW,COSM4163750(1),,,rs72707424,,,,,,chr9,33386511,33386511,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe99Phe/c.297T>C|342|AQP7|protein_coding|CODING|NM_001170.1|5|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,AQP7,SILENT,NM_001170.1:p.Asn94Asn/c.282C>T,aaC/aaT,LOW,COSM4163754(2),0.000199681,0,rs79202054,,,,,,chr9,33386526,33386526,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn94Asn/c.282C>T|342|AQP7|protein_coding|CODING|NM_001170.1|5|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.001,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,AQP3,SILENT,NM_004925.4:p.Phe130Phe/c.390C>T,ttC/ttT,LOW,,0.658746,0.6875,rs2228332,,,,,,chr9,33442952,33442952,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe130Phe/c.390C>T|292|AQP3|protein_coding|CODING|NM_004925.4|4|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM06990:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,K562:H3K36me3,HeLa-S3:H3K4me2,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:DNase1,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.544,0.6859,0.5934,0.64,0.74,0.59,,,,,,,,,,,,,,,,
synonymous_variant,AQP3,SILENT,NM_004925.4:p.Leu35Leu/c.105G>C,ctG/ctC,LOW,COSM1569287(1),0.741214,0.7629,rs591810,,,,,,chr9,33447424,33447424,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu35Leu/c.105G>C|292|AQP3|protein_coding|CODING|NM_004925.4|1|1),"NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K27me3,CD4:H2BK5ac,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,HSMM:DNase1,HMEC:CTCF,HUVEC:H3K4me2,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,CD4:H3K4ac,GM12878:H3K4me1,CD4:PolII,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF",,,,0.6115,0.83,0.7286,0.74,0.80,0.72,,,,,,,,,,,,,,,,
missense_variant,ANKRD18B,MISSENSE,NM_001244752.1:p.Arg66Lys/c.197G>A,aGa/aAa,MODERATE,COSM4163769(1),0.753195,0.8462,rs3843933,1(T),,,-0.9721(T),,chr9,33524684,33524684,G,A,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg66Lys/c.197G>A|1010|ANKRD18B|protein_coding|CODING|NM_001244752.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K27me3,K562:H3K9ac,NHEK:H3K27me3,HeLa-S3:H3K27ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8845,0.7363,0.7952,,,,,,1.000(N),1.64(T),0.0000(T),0.031,-1.296759,1.19,-0.0771,0.298000,-0.031000,-0.204000,0.011000,0.002000,0.001000,3.0271
missense_variant,PRSS3,MISSENSE,NM_001197097.2:p.Ser7Asn/c.20G>A,aGt/aAt,MODERATE,,,,rs201061108,1(T),0.0(B),0(N),-0.7518(T),,chr9,33794809,33794809,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser7Asn/c.20G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1),upstream_gene_variant(MODIFIER||750||247|PRSS3|protein_coding|CODING|NM_002771.3||1),intron_variant(MODIFIER|||c.212-1832G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1832G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"-2.29,-2.42(D,D)",0.3091(T),0.115,-1.932356,1.75,-2.5,-1.096000,-0.673000,-1.129000,0.136000,0.000000,0.000000,5.9988
missense_variant,PRSS3,MISSENSE,NM_001197097.2:p.Gly8Val/c.23G>T,gGc/gTc,MODERATE,,,,rs199873220,0.27(T),0.001(B),0(N),-0.7888(T),,chr9,33794812,33794812,G,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly8Val/c.23G>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1),upstream_gene_variant(MODIFIER||747||247|PRSS3|protein_coding|CODING|NM_002771.3||1),intron_variant(MODIFIER|||c.212-1829G>T|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1829G>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"-2.3,-2.39(D,D)",0.3410(T),0.213,-1.320550,2.24,-2.08,-0.886000,-0.454000,-0.474000,0.199000,0.000000,0.000000,3.8571
missense_variant,PRSS3,MISSENSE,NM_001197097.2:p.Lys12Thr/c.35A>C,aAg/aCg,MODERATE,,0.00159744,0.001,rs191778271,0.09(T),0.186(B),0(N),-0.6900(T),,chr9,33794824,33794824,A,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys12Thr/c.35A>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1),upstream_gene_variant(MODIFIER||735||247|PRSS3|protein_coding|CODING|NM_002771.3||1),intron_variant(MODIFIER|||c.212-1817A>C|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1817A>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0,0.0043,0.004,,,,,,1.000(N),"-2.3,-2.43(D,D)",0.2680(T),0.186,2.799975,2.24,-2.39,0.254000,-0.631000,0.175000,0.557000,0.001000,0.006000,3.4055
missense_variant,PRSS3,MISSENSE,NM_002771.3:p.Pro3Leu/c.8C>T,cCa/cTa,MODERATE,COSM1600282(2),,,,0.67(T),0.001(B),-0.13(N),-0.8353(T),,chr9,33795579,33795579,C,T,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro3Leu/c.8C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1),intron_variant(MODIFIER|||c.212-1062C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1062C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1),intron_variant(MODIFIER|||c.82+708C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),-2.31(D),0.2980(T),0.039,-1.643872,3.85,1.93,-1.206000,0.727000,0.556000,0.007000,0.748000,0.002000,5.9378
missense_variant,PRSS3,MISSENSE,NM_002771.3:p.Phe4Leu/c.10T>C,Ttc/Ctc,MODERATE,COSM3735902(1),,,,1(T),0.001(B),,-0.7741(T),,chr9,33795581,33795581,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe4Leu/c.10T>C|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1),intron_variant(MODIFIER|||c.212-1060T>C|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1060T>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1),intron_variant(MODIFIER|||c.82+710T>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,0.997(D),-2.22(D),0.2857(T),0.021,-1.709084,3.85,1.93,-0.814000,0.751000,-0.398000,0.010000,0.912000,0.000000,5.617
synonymous_variant,PRSS3,SILENT,NM_002771.3:p.Phe4Phe/c.12C>T,ttC/ttT,LOW,,,,,,,,,,chr9,33795583,33795583,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe4Phe/c.12C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1),intron_variant(MODIFIER|||c.212-1058C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1058C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1),intron_variant(MODIFIER|||c.82+712C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_002771.3:p.Ala8Thr/c.22G>A,Gcc/Acc,MODERATE,,,,rs201140357,0.38(T),0.007(B),0.75(N),-0.4910(T),,chr9,33795593,33795593,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala8Thr/c.22G>A|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1),intron_variant(MODIFIER|||c.212-1048G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1048G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1),intron_variant(MODIFIER|||c.82+722G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(D),-2.41(D),0.4603(T),0.071,0.114594,3.85,2.94,-1.206000,0.727000,2.787000,0.043000,0.895000,0.924000,10.2963
synonymous_variant,PRSS3,SILENT,NM_002771.3:p.Val10Val/c.30G>T,gtG/gtT,LOW,,,,,,,,,,chr9,33795601,33795601,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val10Val/c.30G>T|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1),intron_variant(MODIFIER|||c.212-1040G>T|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1040G>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1),intron_variant(MODIFIER|||c.82+730G>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_002771.3:p.Gly11Ala/c.32G>C,gGa/gCa,MODERATE,,,,,0.3(T),0.067(B),-0.275(N),-0.5266(T),,chr9,33795603,33795603,G,C,het,"missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly11Ala/c.32G>C|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1),intron_variant(MODIFIER|||c.212-1038G>C|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1038G>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1),intron_variant(MODIFIER|||c.82+732G>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(D),-2.33(D),0.3693(T),0.166,0.321558,3.85,3.85,0.306000,1.892000,3.098000,0.057000,1.000000,1.000000,13.6759
splice_donor_variant,PRSS3,protein_coding,NM_002771.3:c.41C>T,,HIGH,,,,,,,,,PRSS3:0.25(4);,chr9,33795613,33795613,C,T,het,"splice_donor_variant(HIGH|||c.41C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1),intron_variant(MODIFIER|||c.212-1028C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|1|1),intron_variant(MODIFIER|||c.20-1028C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|1|1),intron_variant(MODIFIER|||c.82+742C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|2|1),intron_variant(MODIFIER|||c.40+2C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|1|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(D),,,.,0.011051,3.85,2.67,-0.818000,0.493000,3.976000,0.008000,0.984000,1.000000,7.4899
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Ile81Ile/c.243T>C,atT/atC,LOW,,,,rs77765166,,,,,,chr9,33796672,33796672,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile38Ile/c.114T>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile17Ile/c.51T>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile24Ile/c.72T>C|247|PRSS3|protein_coding|CODING|NM_002771.3|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile81Ile/c.243T>C|304|PRSS3|protein_coding|CODING|NM_007343.3|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Val82Ile/c.244G>A,Gtt/Att,MODERATE,,,,rs76740888,0.66(T),"0.184,0.319,0.127(B,B,B)",1.285(L),-0.2578(T),,chr9,33796673,33796673,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val39Ile/c.115G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val18Ile/c.52G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val25Ile/c.73G>A|247|PRSS3|protein_coding|CODING|NM_002771.3|2|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val82Ile/c.244G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000002(D),0.956(D),"-2.54,-2.54,-3.31,-2.54,-3.31(D,D,D,D,D)",0.6461(D),0.283,-0.956310,3.21,1.32,-2.635000,0.048000,2.615000,0.001000,0.673000,0.998000,6.4881
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Val116Val/c.348A>G,gtA/gtG,LOW,,,,rs368576294,,,,,,chr9,33796777,33796777,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val73Val/c.219A>G|261|PRSS3|protein_coding|CODING|NM_001197097.2|3|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val52Val/c.156A>G|240|PRSS3|protein_coding|CODING|NM_001197098.1|2|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val59Val/c.177A>G|247|PRSS3|protein_coding|CODING|NM_002771.3|2|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val116Val/c.348A>G|304|PRSS3|protein_coding|CODING|NM_007343.3|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Thr124Ser/c.370A>T,Acc/Tcc,MODERATE,COSM4138933(3),,,rs200709040,1(T),"0.0,0.0,0.0(B,B,B)",-1.3(N),-0.8330(T),,chr9,33796799,33796799,A,T,het,"missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr81Ser/c.241A>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|3|1),missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr60Ser/c.178A>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|2|1),missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr67Ser/c.199A>T|247|PRSS3|protein_coding|CODING|NM_002771.3|2|1),missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr124Ser/c.370A>T|304|PRSS3|protein_coding|CODING|NM_007343.3|2|1),splice_region_variant(LOW|||c.241A>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|3|1),splice_region_variant(LOW|||c.178A>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|2|1),splice_region_variant(LOW|||c.199A>T|247|PRSS3|protein_coding|CODING|NM_002771.3|2|1),splice_region_variant(LOW|||c.370A>T|304|PRSS3|protein_coding|CODING|NM_007343.3|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NH-A:DNase1,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.016629(N),1.000(N),"-2.3,-2.3,-2.3,-2.3,-2.3(D,D,D,D,D)",0.1673(T),0.29,-2.231559,3.21,0.701,-1.004000,-0.069000,0.702000,0.019000,0.646000,1.000000,0.8349
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Lys136Glu/c.406A>G,Aaa/Gaa,MODERATE,COSM4163775(4),,,rs151192741,0.96(T),"0.0,0.001,0.0(B,B,B)",0.3(N),-0.7191(T),,chr9,33797861,33797861,A,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys93Glu/c.277A>G|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys72Glu/c.214A>G|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys79Glu/c.235A>G|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys136Glu/c.406A>G|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.393640(N),1.000(N),"-2.41,-2.41,-2.41,-2.41,-2.41(D,D,D,D,D)",0.3367(T),0.447,-0.360659,3.62,-3.56,-1.351000,-0.349000,1.581000,0.056000,0.044000,0.007000,8.866
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Glu142Glu/c.426G>A,gaG/gaA,LOW,COSM4163777(4),,,rs372122039,,,,,,chr9,33797881,33797881,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu99Glu/c.297G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu78Glu/c.234G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu85Glu/c.255G>A|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu142Glu/c.426G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Ala147Ala/c.441G>A,gcG/gcA,LOW,,,,rs113220686,,,,,,chr9,33797896,33797896,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala104Ala/c.312G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala83Ala/c.249G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala90Ala/c.270G>A|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala147Ala/c.441G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Ala178Ser/c.532G>T,Gcc/Tcc,MODERATE,COSM1741880(2),,,rs137945391,1(T),"0.001,0.004,0.001(B,B,B)",0.075(N),-0.5153(T),,chr9,33797987,33797987,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala135Ser/c.403G>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala114Ser/c.340G>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala121Ser/c.361G>T|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala178Ser/c.532G>T|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.803584(N),1.000(N),"0.35,0.27,-3.05,0.35,-3.05(T,T,D,T,D)",0.4016(T),0.435,-0.834990,3.62,-7.24,0.313000,-1.650000,-3.116000,0.078000,0.000000,0.000000,7.5685
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Arg179His/c.536G>A,cGc/cAc,MODERATE,COSM1132507(2),,,rs146966861,0.52(T),"0.001,0.002,0.0(B,B,B)",0.485(N),-0.6737(T),,chr9,33797991,33797991,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg136His/c.407G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg115His/c.344G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg122His/c.365G>A|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg179His/c.536G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.003909(N),1.000(N),"0.32,0.24,-3.09,0.32,-3.09(T,T,D,T,D)",0.4431(T),0.568,0.703204,3.62,-0.17,0.313000,0.009000,0.574000,0.080000,0.003000,0.000000,4.4554
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Arg179Arg/c.537C>T,cgC/cgT,LOW,COSM1132505(1),,,rs147593137,,,,,,chr9,33797992,33797992,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg136Arg/c.408C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg115Arg/c.345C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg122Arg/c.366C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg179Arg/c.537C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Thr182Ala/c.544A>G,Acc/Gcc,MODERATE,,,,rs142141488,0.13(T),"0.002,0.006,0.002(B,B,B)",-0.185(N),-0.7102(T),,chr9,33797999,33797999,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr139Ala/c.415A>G|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr118Ala/c.352A>G|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr125Ala/c.373A>G|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr182Ala/c.544A>G|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.029949(N),0.994(N),"0.32,0.23,-3.09,0.32,-3.09(T,T,D,T,D)",0.3534(T),0.511,1.538604,3.62,-7.24,0.260000,-2.179000,-0.041000,0.164000,0.001000,0.000000,1.0734
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Thr187Thr/c.561C>T,acC/acT,LOW,,,,,,,,,,chr9,33798016,33798016,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr144Thr/c.432C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr123Thr/c.369C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr130Thr/c.390C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr187Thr/c.561C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Thr188Ala/c.562A>G,Acc/Gcc,MODERATE,,0.991414,1,rs855581,0.43(T),"0.001,0.002,0.001(B,B,B)",-0.8(N),-0.8560(T),,chr9,33798017,33798017,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr145Ala/c.433A>G|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr124Ala/c.370A>G|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr131Ala/c.391A>G|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr188Ala/c.562A>G|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.005476(N),1.000(P),"-2.33,-2.33,-2.33,-2.33,-2.33(D,D,D,D,D)",0.2141(T),0.473,0.895665,3.62,-4.31,-0.642000,-1.076000,-0.070000,0.018000,0.000000,0.001000,6.1922
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Thr194Thr/c.582T>C,acT/acC,LOW,COSM1294460(1),,,,,,,,,chr9,33798037,33798037,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr151Thr/c.453T>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr130Thr/c.390T>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr137Thr/c.411T>C|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr194Thr/c.582T>C|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Cys196Ser/c.587G>C,tGc/tCc,MODERATE,COSM3735904(1),,,rs141382822,0.02(D),"0.88,0.933,0.809(P,D,P)",2.05(M),0.7702(D),,chr9,33798042,33798042,G,C,het,"missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys153Ser/c.458G>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys132Ser/c.395G>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys139Ser/c.416G>C|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys196Ser/c.587G>C|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),"0.05,-0.03,-3.34,0.05,-3.34(T,T,D,T,D)",0.8478(D),0.776,2.250974,3.61,2.7,-0.687000,0.645000,6.872000,0.006000,0.391000,1.000000,11.0551
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Ser199Ser/c.597C>T,tcC/tcT,LOW,COSM328243(4),0.000399361,0,rs377380263,,,,,,chr9,33798052,33798052,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser156Ser/c.468C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser135Ser/c.405C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser142Ser/c.426C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser199Ser/c.597C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0,0,0.002,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Ser206Ser/c.618C>T,agC/agT,LOW,COSM4163784(4),,,,,,,,,chr9,33798073,33798073,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser163Ser/c.489C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser142Ser/c.426C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser149Ser/c.447C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser206Ser/c.618C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Phe207Ser/c.620T>C,tTt/tCt,MODERATE,COSM1599960(5),,,,1(T),"0.0,0.001,0.0(B,B,B)",-0.385(N),-0.5018(T),,chr9,33798075,33798075,T,C,het,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe164Ser/c.491T>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|4|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe143Ser/c.428T>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|3|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe150Ser/c.449T>C|247|PRSS3|protein_coding|CODING|NM_002771.3|3|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe207Ser/c.620T>C|304|PRSS3|protein_coding|CODING|NM_007343.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.141069(N),0.983(D),"0.37,-2.35,-3.0,0.37,-3.0(T,D,D,T,D)",0.3484(T),0.468,-0.516079,3.61,-7.22,-1.390000,-0.550000,-0.135000,0.020000,0.960000,0.519000,1.7451
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Ser239Asn/c.716G>A,aGc/aAc,MODERATE,COSM3774382(5),,,rs201773718,1(T),"0.001,0.002,0.001(B,B,B)",0.11(N),-0.6954(T),,chr9,33798574,33798574,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser196Asn/c.587G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|5|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser175Asn/c.524G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|4|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser182Asn/c.545G>A|247|PRSS3|protein_coding|CODING|NM_002771.3|4|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser239Asn/c.716G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(N),0.993(N),"0.33,-3.12,0.33,-3.12(T,D,T,D)",0.4237(T),0.216,-0.579522,3.85,2.67,-0.818000,0.493000,4.258000,0.020000,0.558000,1.000000,7.4898
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Leu246Leu/c.738T>C,ctT/ctC,LOW,COSM4163786(1),,,rs377148991,,,,,,chr9,33798596,33798596,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu203Leu/c.609T>C|261|PRSS3|protein_coding|CODING|NM_001197097.2|5|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu182Leu/c.546T>C|240|PRSS3|protein_coding|CODING|NM_001197098.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu189Leu/c.567T>C|247|PRSS3|protein_coding|CODING|NM_002771.3|4|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu246Leu/c.738T>C|304|PRSS3|protein_coding|CODING|NM_007343.3|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Arg255Gly/c.763C>G,Cgt/Ggt,MODERATE,COSM4163790(2),,,rs148495550,1(T),"0.0,0.002,0.0(B,B,B)",-3.55(N),-0.8863(T),,chr9,33799026,33799026,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg212Gly/c.634C>G|261|PRSS3|protein_coding|CODING|NM_001197097.2|6|1),missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg191Gly/c.571C>G|240|PRSS3|protein_coding|CODING|NM_001197098.1|5|1),missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg198Gly/c.592C>G|247|PRSS3|protein_coding|CODING|NM_002771.3|5|1),missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg255Gly/c.763C>G|304|PRSS3|protein_coding|CODING|NM_007343.3|5|1),splice_region_variant(LOW|||c.634C>G|261|PRSS3|protein_coding|CODING|NM_001197097.2|6|1),splice_region_variant(LOW|||c.571C>G|240|PRSS3|protein_coding|CODING|NM_001197098.1|5|1),splice_region_variant(LOW|||c.592C>G|247|PRSS3|protein_coding|CODING|NM_002771.3|5|1),splice_region_variant(LOW|||c.763C>G|304|PRSS3|protein_coding|CODING|NM_007343.3|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000003(N),0.953(N),"-0.09,-0.09,-0.09,-0.09(T,T,T,T)",0.0224(T),0.264,-1.419866,3.45,1.54,-0.754000,0.257000,2.984000,0.530000,0.998000,1.000000,6.8028
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Pro260Pro/c.780T>A,ccT/ccA,LOW,COSM4163794(1),,,rs142813493,,,,,,chr9,33799043,33799043,T,A,het,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro217Pro/c.651T>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|6|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro196Pro/c.588T>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|5|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro203Pro/c.609T>A|247|PRSS3|protein_coding|CODING|NM_002771.3|5|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro260Pro/c.780T>A|304|PRSS3|protein_coding|CODING|NM_007343.3|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Asn264Asn/c.792C>T,aaC/aaT,LOW,COSM4163797(1),0.000199681,0,,,,,,,chr9,33799055,33799055,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn221Asn/c.663C>T|261|PRSS3|protein_coding|CODING|NM_001197097.2|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn200Asn/c.600C>T|240|PRSS3|protein_coding|CODING|NM_001197098.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn207Asn/c.621C>T|247|PRSS3|protein_coding|CODING|NM_002771.3|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn264Asn/c.792C>T|304|PRSS3|protein_coding|CODING|NM_007343.3|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.001,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,PRSS3,MISSENSE,NM_007343.3:p.Gly265Arg/c.793G>A,Gga/Aga,MODERATE,COSM1462094(3),,,rs142473318,0(D),"0.698,0.803,0.698(P,P,P)",2.21(M),0.5818(D),,chr9,33799056,33799056,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly222Arg/c.664G>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|6|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly201Arg/c.601G>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|5|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly208Arg/c.622G>A|247|PRSS3|protein_coding|CODING|NM_002771.3|5|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly265Arg/c.793G>A|304|PRSS3|protein_coding|CODING|NM_007343.3|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000126(D),0.857(D),"-2.44,-2.44,-2.44,-2.44(D,D,D,D)",0.7172(D),0.578,1.763433,3.45,2.54,-1.206000,0.727000,3.133000,0.056000,0.456000,0.999000,9.9812
synonymous_variant,PRSS3,SILENT,NM_007343.3:p.Ile300Ile/c.900C>A,atC/atA,LOW,COSM4163799(2),,,rs376841271,,,,,,chr9,33799163,33799163,C,A,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile257Ile/c.771C>A|261|PRSS3|protein_coding|CODING|NM_001197097.2|6|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile236Ile/c.708C>A|240|PRSS3|protein_coding|CODING|NM_001197098.1|5|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile243Ile/c.729C>A|247|PRSS3|protein_coding|CODING|NM_002771.3|5|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile300Ile/c.900C>A|304|PRSS3|protein_coding|CODING|NM_007343.3|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,UBAP2,MISSENSE,NM_018449.3:p.Ala756Val/c.2267C>T,gCc/gTc,MODERATE,,0.996605,1,rs307692,1(T),"0.001,0.001,0.001,0.001,0.0(B,B,B,B,B)",-0.95(N),-1.0390(T),,chr9,33927899,33927899,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala489Val/c.1466C>T|852|UBAP2|protein_coding|CODING|NM_001282529.1|16|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala756Val/c.2267C>T|1119|UBAP2|protein_coding|CODING|NM_018449.3|20|1),5_prime_UTR_variant(MODIFIER||17|c.-17C>T|358|UBAP2|protein_coding|CODING|NM_001282530.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.903744(N),0.917(P),"2.05,2.05,2.05,2.05,2.05(T,T,T,T,T)",0.0000(T),0.08,-1.376784,5.57,-1.44,-1.799000,-0.884000,0.281000,0.000000,0.001000,0.112000,8.3795
missense_variant,UBAP2,MISSENSE,NM_018449.3:p.Asn606Ser/c.1817A>G,aAt/aGt,MODERATE,COSM150593(2),0.370807,0.1726,rs307658,1(T),"0.001,0.0,0.0,0.0,0.0,0.0,0.0,0.002(B,B,B,B,B,B,B,B)",-1.05(N),-0.9526(T),,chr9,33941759,33941759,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn339Ser/c.1016A>G|852|UBAP2|protein_coding|CODING|NM_001282529.1|12|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn606Ser/c.1817A>G|1119|UBAP2|protein_coding|CODING|NM_018449.3|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4489,0.268,0.3837,0.41,0.47,0.38,,0.046596(N),0.000(P),"2.79,2.79,2.79,2.58,2.59,2.28,2.05(T,T,T,T,T,T,T)",0.0000(T),0.05,-0.663234,5.76,5.76,-0.119000,1.449000,2.117000,0.356000,1.000000,1.000000,12.9291
missense_variant,UBAP2,MISSENSE,NM_018449.3:p.Arg14Gln/c.41G>A,cGg/cAg,MODERATE,COSM1179699(2),0.628994,0.8274,rs1785506,0.34(T),"0.889,0.195(P,B)",1.87(L),-1.0599(T),,chr9,34017106,34017106,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg14Gln/c.41G>A|1119|UBAP2|protein_coding|CODING|NM_018449.3|2|1),intron_variant(MODIFIER|||c.-475-18244G>A|852|UBAP2|protein_coding|CODING|NM_001282529.1|1|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5511,0.732,0.6163,0.59,0.53,0.62,,0.000000(D),0.000(P),"1.51,1.51,1.51,1.51,1.51(T,T,T,T,T)",0.0000(T),0.551,3.292071,5.82,5.82,0.655000,2.760000,6.341000,0.713000,1.000000,1.000000,20.1001
missense_variant,KIF24,MISSENSE,NM_194313.2:p.Leu1114Val/c.3340C>G,Ctg/Gtg,MODERATE,,,,,,,2.175(M),-0.3354(T),,chr9,34256265,34256265,G,C,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu1114Val/c.3340C>G|1368|KIF24|protein_coding|CODING|NM_194313.2|11|1),"NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,,,,,,,,,,,0.796(D),,0.3186(T),.,1.464285,5.11,2.1,-0.136000,0.767000,3.164000,0.017000,0.985000,1.000000,9.2241
missense_variant,KIF24,MISSENSE,NM_194313.2:p.Ser837Phe/c.2510C>T,tCt/tTt,MODERATE,COSM3763902(1),0.134984,0.0516,rs41274041,0.07(T),0.956(D),1.645(L),-1.1118(T),,chr9,34257095,34257095,G,A,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser837Phe/c.2510C>T|1368|KIF24|protein_coding|CODING|NM_194313.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2444,0.17,0.2107,0.16,0.07,0.20,,0.001138(N),1.000(P),"1.55,1.55,1.55,1.55(T,T,T,T)",0.0001(T),0.413,2.359768,5.57,4.66,0.563000,2.624000,2.608000,0.678000,0.105000,0.942000,11.3343
missense_variant,KIF24,MISSENSE,NM_194313.2:p.Trp218Leu/c.653G>T,tGg/tTg,MODERATE,COSM4163802(1),0.0902556,0.0069,rs17350674,0.7(T),"0.806,0.644(P,P)",2.045(M),-1.0623(T),,chr9,34306410,34306410,C,A,het,missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp218Leu/c.653G>T|1368|KIF24|protein_coding|CODING|NM_194313.2|3|1),NHEK:H3K36me3,,,,0.1135,0.147,0.2177,0.14,0.03,0.19,,0.001017(N),0.008(P),"2.47,2.47,2.47,2.47(T,T,T,T)",0.0001(T),0.397,4.510651,5.6,5.6,0.655000,2.636000,5.581000,0.980000,1.000000,1.000000,19.6051
missense_variant,KIF24,MISSENSE,NM_194313.2:p.Met140Val/c.418A>G,Atg/Gtg,MODERATE,,0.410942,0.3353,rs10972048,0.3(T),"0.002,0.001(B,B)",1.43(L),-0.9353(T),,chr9,34310927,34310927,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met140Val/c.418A>G|1368|KIF24|protein_coding|CODING|NM_194313.2|2|1),NHEK:H3K36me3,,,,0.6207,0.5,0.6223,0.48,0.18,0.62,,0.076241(N),1.000(P),"-0.28,-0.45,-0.28,-0.45(T,T,T,T)",0.0000(T),0.058,-2.128481,5.48,1.9,0.528000,0.383000,0.035000,0.231000,0.874000,0.420000,4.2329
missense_variant,KIAA1161,MISSENSE,NM_020702.4:p.Asp53Glu/c.159C>G,gaC/gaG,MODERATE,COSM4163804(1),0.936302,0.9663,rs4879781,1(T),0.0(B),-0.805(N),-0.9458(T),,chr9,34372783,34372783,G,C,hom,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp53Glu/c.159C>G|714|KIAA1161|protein_coding|CODING|NM_020702.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:CTCF",,,,0.9806,0.9726,0.9881,0.95,0.87,0.99,,0.000120(N),1.000(P),"-2.78,1.75(D,T)",0.0000(T),0.067,-2.583526,5.42,1.46,-2.305000,-0.352000,-0.060000,0.019000,0.629000,0.436000,5.4899
stop_lost,KIAA1161,MISSENSE,NM_020702.4:p.Ter23Tyrext*?/c.69G>C,taG/taC,HIGH,,0.796126,0.9593,rs4879782,,,,,,chr9,34372873,34372873,C,G,het,stop_lost(HIGH|MISSENSE|taG/taC|p.Ter23Tyrext*?/c.69G>C|714|KIAA1161|protein_coding|CODING|NM_020702.4|2|1),"HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8998,0.8012,0.7674,0.75,0.67,0.78,,,,,,,,,,,,,,,,
missense_variant,KIAA1161,MISSENSE,NM_020702.4:p.Asn4Ile/c.11A>T,aAc/aTc,MODERATE,,0.142372,0.0933,rs2297776,,,,,,chr9,34372931,34372931,T,A,het,missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn4Ile/c.11A>T|714|KIAA1161|protein_coding|CODING|NM_020702.4|2|1),"HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2423,0.17,0.2087,0.16,0.07,0.20,,,,,,,,,,,,,,,,
missense_variant,C9orf24,MISSENSE,NM_001252195.1:p.Cys114Tyr/c.341G>A,tGt/tAt,MODERATE,COSM3763905(1),0.141573,0.0942,rs3737242,0.39(T),0.018(B),,-1.0862(T),,chr9,34379692,34379692,C,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys114Tyr/c.341G>A|164|C9orf24|protein_coding|CODING|NM_001252195.1|4|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys61Tyr/c.182G>A|111|C9orf24|protein_coding|CODING|NM_147169.2|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val247Val/c.741G>A|262|C9orf24|protein_coding|CODING|NM_032596.3|6|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val112Val/c.336G>A|127|C9orf24|protein_coding|CODING|NM_147168.1|3|1)","NHEK:CTCF,CD4:H2AZ,HepG2:H3K4me2,HeLa-S3:DNase1,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,NHEK:H3K4me2,CD4:H3K4me2,HepG2:DNase1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,GM06990:CTCF",,,,0.2403,0.1657,0.2087,0.16,0.07,0.20,,,0.000(P),"0.67,0.67(T,T)",0.0001(T),.,3.942210,4.73,3.82,0.561000,2.627000,2.351000,0.933000,1.000000,1.000000,10.4135
missense_variant,C9orf24,MISSENSE,NM_032596.3:p.Arg53Gln/c.158G>A,cGa/cAa,MODERATE,,0.00579073,0,rs112332239,0.34(T),0.014(B),0.55(N),-1.0500(T),,chr9,34385757,34385757,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg53Gln/c.158G>A|262|C9orf24|protein_coding|CODING|NM_032596.3|2|1),"GM06990:H3K27me3,NHEK:H3K27me3",,,,0.001,0.0101,0.0199,0.01,0.00,0.02,,0.889535(N),1.000(N),0.77(T),0.0351(T),0.122,1.479396,5.89,0.165,-0.797000,-0.081000,0.273000,0.048000,0.001000,0.003000,5.5465
synonymous_variant,C9orf24,SILENT,NM_032596.3:p.Tyr29Tyr/c.87T>C,taT/taC,LOW,COSM3763906(3),0.404353,0.3968,rs11790577,,,,,,chr9,34397545,34397545,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr29Tyr/c.87T>C|262|C9orf24|protein_coding|CODING|NM_032596.3|1|1),downstream_gene_variant(MODIFIER||637||185|FAM219A|protein_coding|CODING|NM_001184940.1||1),downstream_gene_variant(MODIFIER||637||184|FAM219A|protein_coding|CODING|NM_001184941.1||1),downstream_gene_variant(MODIFIER||637||173|FAM219A|protein_coding|CODING|NM_001184942.1||1),downstream_gene_variant(MODIFIER||637||167|FAM219A|protein_coding|CODING|NM_001184943.1||1),downstream_gene_variant(MODIFIER||637||156|FAM219A|protein_coding|CODING|NM_001184945.1||1),downstream_gene_variant(MODIFIER||637||168|FAM219A|protein_coding|CODING|NM_147202.1||1)","GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4591,0.3934,0.5239,0.45,0.32,0.52,,,,,,,,,,,,,,,,
missense_variant,ARID3C,MISSENSE,NM_001017363.1:p.Cys335Gly/c.1003T>G,Tgc/Ggc,MODERATE,COSM3763907(2),0.602436,0.4802,rs3808869,0.74(T),0.0(B),-1.39(N),-1.0082(T),,chr9,34622389,34622389,A,C,het,"missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys335Gly/c.1003T>G|412|ARID3C|protein_coding|CODING|NM_001017363.1|5|1),upstream_gene_variant(MODIFIER||1869||158|DCTN3|protein_coding|CODING|NM_001281425.1||1),upstream_gene_variant(MODIFIER||1869||154|DCTN3|protein_coding|CODING|NM_001281426.1||1),upstream_gene_variant(MODIFIER||1869||176|DCTN3|protein_coding|CODING|NM_001281427.1||1),upstream_gene_variant(MODIFIER||1869||186|DCTN3|protein_coding|CODING|NM_007234.4||1),upstream_gene_variant(MODIFIER||1869||176|DCTN3|protein_coding|CODING|NM_024348.3||1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:H3K27me3",,,,0.6391,0.598,0.4692,0.58,0.73,0.51,,0.078986(N),1.000(P),1.14(T),0.0000(T),0.024,-1.413812,4.61,0.293,-0.232000,-0.044000,-0.178000,0.980000,0.003000,0.000000,4.0924
missense_variant,SIGMAR1,MISSENSE,NM_005866.3:p.Gln2Pro/c.5A>C,cAg/cCg,MODERATE,,0.217252,0.3204,rs1800866,0.41(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.345(N),-0.9550(T),,chr9,34637690,34637690,T,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln2Pro/c.5A>C|155|SIGMAR1|protein_coding|CODING|NM_001282205.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln2Pro/c.5A>C|159|SIGMAR1|protein_coding|CODING|NM_001282208.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln2Pro/c.5A>C|110|SIGMAR1|protein_coding|CODING|NM_001282209.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln2Pro/c.5A>C|223|SIGMAR1|protein_coding|CODING|NM_005866.3|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln2Pro/c.5A>C|192|SIGMAR1|protein_coding|CODING|NM_147157.2|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln2Pro/c.5A>C|203|SIGMAR1|protein_coding|CODING|NM_001282207.1|1|1),5_prime_UTR_variant(MODIFIER||375|c.-249A>C|123|SIGMAR1|protein_coding|CODING|NM_001282206.1|1|1),non_coding_exon_variant(MODIFIER|||n.134A>C||SIGMAR1||CODING|NR_104108.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HepG2:p300,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,H1ESC:p300,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6",,,,0.2045,0.2493,0.1521,0.12,0.13,0.12,,0.596497(N),0.000(P),"0.5,0.5(T,T)",0.0000(T),0.061,1.655624,4.63,0.912,0.459000,-0.002000,0.027000,0.995000,0.998000,0.840000,0.6493
synonymous_variant,FAM205A,SILENT,NM_001141917.1:p.Pro730Pro/c.2190G>A,ccG/ccA,LOW,,,,rs78716275,,,,,,chr9,34725047,34725047,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro730Pro/c.2190G>A|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FAM205A,MISSENSE,NM_001141917.1:p.Ala709Thr/c.2125G>A,Gca/Aca,MODERATE,COSM1319601(1),,,rs200209883,0.21(T),0.647(P),0.895(L),-0.9810(T),,chr9,34725112,34725112,C,T,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala709Thr/c.2125G>A|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),0.58(T),0.1195(T),0.037,2.730297,4.43,-2.72,-0.300000,-0.528000,-0.932000,0.003000,0.000000,0.000000,5.4131
missense_variant,FAM205A,MISSENSE,NM_001141917.1:p.Met499Val/c.1495A>G,Atg/Gtg,MODERATE,COSM4163809(1),0.655351,0.6994,rs62547039,0.78(T),0.0(B),-0.805(N),-0.9182(T),,chr9,34725742,34725742,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met499Val/c.1495A>G|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.7822,0.6023,0.66,,,,,,1.000(P),3.42(T),0.0055(T),0.026,-1.645525,3.8,-1.25,-0.215000,-0.758000,-0.459000,0.208000,0.000000,0.000000,4.0301
missense_variant,FAM205A,MISSENSE,NM_001141917.1:p.Cys361Tyr/c.1082G>A,tGt/tAt,MODERATE,,0.11901,0.0367,rs76045500,1(T),0.272(B),-0.345(N),-1.0618(T),,chr9,34726155,34726155,C,T,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys361Tyr/c.1082G>A|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0849,0.0735,0.0328,,,,,,1.000(P),2.01(T),0.0001(T),0.102,2.646414,4.11,-0.233,-0.226000,0.143000,-0.146000,0.641000,0.000000,0.000000,4.4897
missense_variant,FAM205A,MISSENSE,NM_001141917.1:p.Phe352Ser/c.1055T>C,tTt/tCt,MODERATE,,0.476038,0.5188,rs521630,0.25(T),0.098(B),0.895(L),-0.9057(T),,chr9,34726182,34726182,A,G,het,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe352Ser/c.1055T>C|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6186,0.4035,0.4612,,,,,,1.000(P),1.96(T),0.0000(T),0.095,0.677781,3.94,-0.148,0.454000,-0.118000,-0.606000,0.019000,0.000000,0.000000,3.7282
synonymous_variant,FAM205A,SILENT,NM_001141917.1:p.Pro273Pro/c.819A>G,ccA/ccG,LOW,,0.23123,0.0813,rs2937382,,,,,,chr9,34726418,34726418,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro273Pro/c.819A>G|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2342,0.1873,0.171,,,,,,,,,,,,,,,,,,,
missense_variant,FAM205A,MISSENSE,NM_001141917.1:p.Thr238Met/c.713C>T,aCg/aTg,MODERATE,,0.230831,0.0813,rs1810820,0.55(T),0.001(B),-0.345(N),-0.9382(T),,chr9,34726524,34726524,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr238Met/c.713C>T|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2331,0.1873,0.17,0.24,0.39,0.17,,0.000125(U),1.000(P),1.9(T),0.0000(T),0.042,-1.179611,3.85,1.37,-0.381000,-0.108000,-0.127000,0.018000,0.000000,0.000000,6.2973
missense_variant,FAM205A,MISSENSE,NM_001141917.1:p.Thr189Met/c.566C>T,aCg/aTg,MODERATE,COSM3848427(2),0.269169,0.3006,rs1854574,0.03(D),0.556(P),1.32(L),-1.0054(T),,chr9,34726671,34726671,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr189Met/c.566C>T|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2198,0.3818,0.3439,,,,,0.170045(U),1.000(P),1.7(T),0.0000(T),0.067,1.340468,3.09,1.22,-0.234000,0.334000,0.368000,0.007000,0.000000,0.000000,3.7287
missense_variant,FAM205A,MISSENSE,NM_001141917.1:p.Leu139Arg/c.416T>G,cTa/cGa,MODERATE,,0.0121805,0.0109,rs117956208,0.04(D),0.906(P),2.05(M),-1.1075(T),,chr9,34726821,34726821,A,C,het,missense_variant(MODERATE|MISSENSE|cTa/cGa|p.Leu139Arg/c.416T>G|1335|FAM205A|protein_coding|CODING|NM_001141917.1|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.0245,0.0109,0.01,0.01,0.02,,0.000026(U),1.000(N),1.51(T),0.0855(T),0.411,2.335402,4.17,1.73,0.528000,0.236000,0.550000,0.013000,0.004000,0.003000,3.1708
missense_variant,C9orf131,MISSENSE,NM_203299.3:p.Trp222Leu/c.665G>T,tGg/tTg,MODERATE,COSM150598(3),0.653954,0.4484,rs615474,1(T),"0.0,0.0,0.0(B,B,B)",-1.79(N),-0.9837(T),,chr9,35043291,35043291,G,T,hom,"missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp187Leu/c.560G>T|1044|C9orf131|protein_coding|CODING|NM_001040410.2|2|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp149Leu/c.446G>T|1006|C9orf131|protein_coding|CODING|NM_001040411.2|2|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp174Leu/c.521G>T|1031|C9orf131|protein_coding|CODING|NM_001040412.2|3|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp149Leu/c.446G>T|1006|C9orf131|protein_coding|CODING|NM_001287391.1|2|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp222Leu/c.665G>T|1079|C9orf131|protein_coding|CODING|NM_203299.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.729,0.8127,0.7495,0.71,0.62,0.76,,0.038259(N),1.000(P),"3.05,3.06,3.04,1.83(T,T,T,T)",0.0000(T),0.109,-1.444217,5.16,2.8,-0.256000,0.448000,0.361000,0.461000,0.009000,0.011000,3.6016
synonymous_variant,FAM214B,SILENT,NM_025182.2:p.Gly169Gly/c.507G>T,ggG/ggT,LOW,COSM4163816(2),0.187101,0.003,rs13287211,,,,,,chr9,35107765,35107765,C,A,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly169Gly/c.507G>T|538|FAM214B|protein_coding|CODING|NM_025182.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2096,0.4424,0.3936,0.29,0.07,0.39,,,,,,,,,,,,,,,,
synonymous_variant,FAM214B,SILENT,NM_025182.2:p.Ser138Ser/c.414G>A,tcG/tcA,LOW,COSM4163817(1),0.983826,1,rs7039828,,,,,,chr9,35107858,35107858,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser138Ser/c.414G>A|538|FAM214B|protein_coding|CODING|NM_025182.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.999,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,RUSC2,MISSENSE,NM_001135999.1:p.Thr73Ala/c.217A>G,Act/Gct,MODERATE,,0.965056,1,rs1535422,1(T),0.0(B),-0.255(N),-0.9506(T),,chr9,35546735,35546735,A,G,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr73Ala/c.217A>G|1516|RUSC2|protein_coding|CODING|NM_001135999.1|2|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr73Ala/c.217A>G|1516|RUSC2|protein_coding|CODING|NM_014806.3|2|1),non_coding_exon_variant(MODIFIER|||n.530A>G||RUSC2||CODING|NR_052015.2|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,0.9697,1,0.96,0.87,1.00,,0.001712(N),1.000(P),"2.01,2.01(T,T)",0.0000(T),0.077,-2.384858,5.6,2.76,-0.227000,0.062000,2.411000,0.309000,0.059000,1.000000,5.3824
synonymous_variant,FAM166B,SILENT,NM_001164310.2:p.Cys189Cys/c.567C>T,tgC/tgT,LOW,,0.333666,0.2817,rs755774,,,,,,chr9,35562549,35562549,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys189Cys/c.567C>T|275|FAM166B|protein_coding|CODING|NM_001164310.2|5|1),downstream_gene_variant(MODIFIER||654||1516|RUSC2|protein_coding|CODING|NM_001135999.1||1),downstream_gene_variant(MODIFIER||654||1516|RUSC2|protein_coding|CODING|NM_014806.3||1),downstream_gene_variant(MODIFIER||654|||RUSC2||CODING|NR_052015.2||1),intron_variant(MODIFIER|||c.545-46C>T|216|FAM166B|protein_coding|CODING|NM_001099951.3|4|1),intron_variant(MODIFIER|||c.577-46C>T|263|FAM166B|protein_coding|CODING|NM_001287238.1|4|1),intron_variant(MODIFIER|||c.545-24C>T|306|FAM166B|protein_coding|CODING|NM_001287239.1|4|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2618,0.5778,0.4433,0.39,0.24,0.47,,,,,,,,,,,,,,,,
synonymous_variant,TESK1,SILENT,NM_006285.2:p.Leu147Leu/c.441G>A,ctG/ctA,LOW,COSM3763910(1),0.463059,0.3849,rs2275422,,,,,,chr9,35606884,35606884,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu147Leu/c.441G>A|626|TESK1|protein_coding|CODING|NM_006285.2|4|1),upstream_gene_variant(MODIFIER||1207|||MIR4667||NON_CODING|NR_039813.2||1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4294,0.4856,0.4652,0.46,0.48,0.45,,,,,,,,,,,,,,,,
missense_variant,CCDC107,MISSENSE,NM_174923.2:p.Ile220Val/c.658A>G,Att/Gtt,MODERATE,,0.813299,0.9782,rs1339374,1(T),"0.0,0.0(B,B)",0(N),-0.9574(T),,chr9,35660990,35660990,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile220Val/c.658A>G|283|CCDC107|protein_coding|CODING|NM_174923.2|5|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile193Val/c.577A>G|256|CCDC107|protein_coding|CODING|NM_001195200.1|6|1),3_prime_UTR_variant(MODIFIER||994|c.*994T>C|335|ARHGEF39|protein_coding|CODING|NM_032818.2|9|1),3_prime_UTR_variant(MODIFIER||210|c.*210A>G|139|CCDC107|protein_coding|CODING|NM_001195217.1|5|1),3_prime_UTR_variant(MODIFIER||170|c.*89A>G|155|CCDC107|protein_coding|CODING|NM_001195201.1|6|1)","H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,IMR90:H3K27ac,CD4:H3K4me1,IMR90:H4K91ac,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8906,0.8703,0.8181,0.74,0.63,0.80,,0.487558(N),1.000(P),"1.95,1.53(T,T)",0.0000(T),0.034,-1.863490,5.08,1.22,-1.201000,-0.128000,-0.106000,0.018000,0.364000,0.069000,7.7533
synonymous_variant,ARHGEF39,SILENT,NM_032818.2:p.Cys10Cys/c.30C>T,tgC/tgT,LOW,,0.00119808,0,rs61755263,,,,,,chr9,35665137,35665137,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys10Cys/c.30C>T|335|ARHGEF39|protein_coding|CODING|NM_032818.2|1|1),"H1ESC:PolII,NHEK:CTCF,CD4:H2AZ,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,GM12878:EBF,HeLa-S3:Gabp,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20",,,,0,0,0.006,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,CA9,MISSENSE,NM_001216.2:p.Val33Met/c.97G>A,Gtg/Atg,MODERATE,,0.323283,0.4444,rs2071676,0(D),"0.515,0.316(P,B)",1.04(L),-1.0205(T),,chr9,35674053,35674053,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val33Met/c.97G>A|459|CA9|protein_coding|CODING|NM_001216.2|1|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K27me3,HeLa-S3:H3K4me2,HepG2:PolII,NH-A:H3K27me3,K562:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,NHEK:DNase1",,,,0.4376,0.4078,0.3569,0.27,0.12,0.35,,0.405154(N),0.000(P),-0.66(T),0.0000(T),0.074,1.688594,5.01,3.11,0.655000,0.654000,0.359000,0.478000,0.989000,0.004000,8.0091
missense_variant,SPAG8,MISSENSE,NM_172312.1:p.Tyr272Cys/c.815A>G,tAt/tGt,MODERATE,,0.0309505,0.001,rs41277075,,,0.69(N),-0.9359(T),,chr9,35811228,35811228,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr272Cys/c.815A>G|485|SPAG8|protein_coding|CODING|NM_001039592.1|2|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr272Cys/c.815A>G|501|SPAG8|protein_coding|CODING|NM_172312.1|2|1),downstream_gene_variant(MODIFIER||1500||1047|NPR2|protein_coding|CODING|NM_003995.3||1),downstream_gene_variant(MODIFIER||1729||163|HINT2|protein_coding|CODING|NM_032593.2||1)","CD4:H4K91ac,H1ESC:H3K27me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.0245,0.0202,0.0477,0.04,0.05,0.04,,,1.000(N),,0.0104(T),.,0.741096,5.65,-11.3,-0.242000,-3.716000,-1.880000,0.009000,0.000000,0.000000,19.5184
missense_variant,SPAG8,MISSENSE,NM_172312.1:p.Tyr272His/c.814T>C,Tat/Cat,MODERATE,,0.00638978,0,rs61758539,0.5(T),"0.007,0.007(B,B)",0.69(N),-1.0774(T),,chr9,35811229,35811229,A,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr272His/c.814T>C|485|SPAG8|protein_coding|CODING|NM_001039592.1|2|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr272His/c.814T>C|501|SPAG8|protein_coding|CODING|NM_172312.1|2|1),downstream_gene_variant(MODIFIER||1501||1047|NPR2|protein_coding|CODING|NM_003995.3||1),downstream_gene_variant(MODIFIER||1728||163|HINT2|protein_coding|CODING|NM_032593.2||1)","CD4:H4K91ac,H1ESC:H3K27me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0173,0.0189,0.01,0.00,0.02,,0.007126(N),1.000(N),"1.48,1.52,1.52(T,T,T)",0.0198(T),0.294,2.369588,5.65,-4.29,-0.336000,-0.617000,-0.071000,0.005000,0.000000,0.000000,1.0569
missense_variant,OR13J1,MISSENSE,NM_001004487.1:p.His133Arg/c.398A>G,cAc/cGc,MODERATE,COSM3722878(1),0.645767,0.6369,rs7044405,0.06(T),0.0(B),0.615(N),-1.0971(T),,chr9,35870001,35870001,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His133Arg/c.398A>G|312|OR13J1|protein_coding|CODING|NM_001004487.1|1|1),"HMEC:CTCF,HepG2:H3K27me3",,,,0.6125,0.5951,0.6193,0.65,0.74,0.61,,0.001130(N),1.000(P),5.01(T),0.0000(T),0.012,0.472352,4.62,1.76,-1.964000,0.143000,-0.105000,0.365000,0.215000,0.000000,9.2108
synonymous_variant,MELK,SILENT,NM_014791.3:p.Asn562Asn/c.1686C>T,aaC/aaT,LOW,,0.749201,0.8859,rs2274473,,,,,,chr9,36674842,36674842,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn521Asn/c.1563C>T|610|MELK|protein_coding|CODING|NM_001256685.1|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn514Asn/c.1542C>T|603|MELK|protein_coding|CODING|NM_001256687.1|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn491Asn/c.1473C>T|580|MELK|protein_coding|CODING|NM_001256688.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn530Asn/c.1590C>T|619|MELK|protein_coding|CODING|NM_001256689.1|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn491Asn/c.1473C>T|580|MELK|protein_coding|CODING|NM_001256690.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn482Asn/c.1446C>T|571|MELK|protein_coding|CODING|NM_001256691.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn431Asn/c.1293C>T|520|MELK|protein_coding|CODING|NM_001256692.1|14|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn368Asn/c.1104C>T|457|MELK|protein_coding|CODING|NM_001256693.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn562Asn/c.1686C>T|651|MELK|protein_coding|CODING|NM_014791.3|17|1),non_coding_exon_variant(MODIFIER|||n.1907C>T||MELK||CODING|NR_046337.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8067,0.8862,0.8887,0.76,0.50,0.90,,,,,,,,,,,,,,,,
missense_variant,PAX5,MISSENSE,NM_001280549.1:p.Thr293Ile/c.878C>T,aCt/aTt,MODERATE,COSM4163845(1),0.742013,0.8899,rs3780135,0.07(T),"0.0,0.001(B,B)",,-0.9216(T),,chr9,36840623,36840623,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr293Ile/c.878C>T|324|PAX5|protein_coding|CODING|NM_001280549.1|8|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr264Ile/c.791C>T|295|PAX5|protein_coding|CODING|NM_001280550.1|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr336Tyr/c.1008C>T|357|PAX5|protein_coding|CODING|NM_001280547.1|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr341Tyr/c.1023C>T|362|PAX5|protein_coding|CODING|NM_001280548.1|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr199Tyr/c.597C>T|220|PAX5|protein_coding|CODING|NM_001280551.1|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr307Tyr/c.921C>T|328|PAX5|protein_coding|CODING|NM_001280552.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr298Tyr/c.894C>T|319|PAX5|protein_coding|CODING|NM_001280553.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr327Tyr/c.981C>T|348|PAX5|protein_coding|CODING|NM_001280554.1|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr270Tyr/c.810C>T|291|PAX5|protein_coding|CODING|NM_001280555.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr262Tyr/c.786C>T|283|PAX5|protein_coding|CODING|NM_001280556.1|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr370Tyr/c.1110C>T|391|PAX5|protein_coding|CODING|NM_016734.2|10|1),non_coding_exon_variant(MODIFIER|||n.1428C>T||PAX5||CODING|NR_103999.1|9|1),non_coding_exon_variant(MODIFIER|||n.1485C>T||PAX5||CODING|NR_104000.1|10|1)","GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8681,0.8415,0.9473,0.76,0.42,0.94,,,0.000(P),"-4.59,-4.71(D,D)",0.0000(T),.,1.861142,5.34,2.41,0.563000,0.617000,0.543000,0.828000,1.000000,1.000000,9.8454
synonymous_variant,GRHPR,SILENT,NM_012203.1:p.Ala193Ala/c.579A>G,gcA/gcG,LOW,COSM4163857(1),0.849241,0.9167,rs309458,,,,,,chr9,37429814,37429814,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala193Ala/c.579A>G|328|GRHPR|protein_coding|CODING|NM_012203.1|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000020679.2,,0.9029,0.83,0.9205,0.86,0.75,0.91,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB5,SILENT,NM_014872.2:p.Asp247Asp/c.741T>C,gaT/gaC,LOW,,0.998203,1,rs309450,,,,,,chr9,37441808,37441808,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp247Asp/c.741T>C|677|ZBTB5|protein_coding|CODING|NM_014872.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,POLR1E,MISSENSE,NM_001282766.1:p.Thr43Ile/c.128C>T,aCc/aTc,MODERATE,,0.141773,0.2321,rs10758433,0.18(T),0.003(B),,-0.9769(T),,chr9,37492367,37492367,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr43Ile/c.128C>T|349|POLR1E|protein_coding|CODING|NM_001282766.1|5|1),intron_variant(MODIFIER|||c.344-287C>T|419|POLR1E|protein_coding|CODING|NM_022490.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1155,0.2522,0.1421,,,,,,1.000(P),1.78(T),0.0000(T),0.033,0.076126,3.69,0.0228,0.655000,-0.082000,0.086000,0.164000,0.000000,0.001000,1.8719
synonymous_variant,POLR1E,SILENT,NM_022490.2:p.Ala123Ala/c.369G>T,gcG/gcT,LOW,COSM3763928(1),0.215256,0.244,rs3739576,,,,,,chr9,37492679,37492679,G,T,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala53Ala/c.159G>T|349|POLR1E|protein_coding|CODING|NM_001282766.1|6|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala123Ala/c.369G>T|419|POLR1E|protein_coding|CODING|NM_022490.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.3112,0.2018,0.21,0.18,0.22,,,,,,,,,,,,,,,,
synonymous_variant,POLR1E,SILENT,NM_022490.2:p.Thr145Thr/c.435C>T,acC/acT,LOW,,0.215256,0.244,rs10758434,,,,,,chr9,37493588,37493588,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr75Thr/c.225C>T|349|POLR1E|protein_coding|CODING|NM_001282766.1|7|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr145Thr/c.435C>T|419|POLR1E|protein_coding|CODING|NM_022490.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.3112,0.2018,0.21,0.18,0.22,,,,,,,,,,,,,,,,
synonymous_variant,POLR1E,SILENT,NM_022490.2:p.Thr315Thr/c.945T>C,acT/acC,LOW,COSM3763930(1),0.283946,0.244,rs2277161,,,,,,chr9,37500895,37500895,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr245Thr/c.735T>C|349|POLR1E|protein_coding|CODING|NM_001282766.1|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr315Thr/c.945T>C|419|POLR1E|protein_coding|CODING|NM_022490.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1922,0.3256,0.2028,0.28,0.40,0.22,,,,,,,,,,,,,,,,
missense_variant,POLR1E,MISSENSE,NM_022490.2:p.Arg383Lys/c.1148G>A,aGg/aAg,MODERATE,,0.214657,0.2431,rs10814571,0.63(T),"0.001,0.002,0.001(B,B,B)",-1.995(N),-0.9212(T),,chr9,37503087,37503087,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg313Lys/c.938G>A|349|POLR1E|protein_coding|CODING|NM_001282766.1|13|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg383Lys/c.1148G>A|419|POLR1E|protein_coding|CODING|NM_022490.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1912,0.3112,0.2018,0.21,0.18,0.22,,0.310629(N),1.000(P),"2.12,2.12,2.12(T,T,T)",0.0000(T),0.024,0.337637,5.69,-7.71,0.655000,-0.965000,-0.392000,0.928000,0.011000,0.008000,11.0644
synonymous_variant,POLR1E,SILENT,NM_022490.2:p.Lys395Lys/c.1185G>A,aaG/aaA,LOW,,0.999201,1,rs7047823,,,,,,chr9,37503124,37503124,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys325Lys/c.975G>A|349|POLR1E|protein_coding|CODING|NM_001282766.1|13|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys395Lys/c.1185G>A|419|POLR1E|protein_coding|CODING|NM_022490.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FRMPD1,SILENT,NM_014907.2:p.Thr450Thr/c.1350G>A,acG/acA,LOW,COSM3746008(1),0.0567093,0,rs61740795,,,,,,chr9,37735680,37735680,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr450Thr/c.1350G>A|1578|FRMPD1|protein_coding|CODING|NM_014907.2|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0123,0.1066,0.1849,0.13,0.04,0.18,,,,,,,,,,,,,,,,
synonymous_variant,FRMPD1,SILENT,NM_014907.2:p.Ala704Ala/c.2112T>C,gcT/gcC,LOW,,0.621206,0.5437,rs2281872,,,,,,chr9,37740637,37740637,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala704Ala/c.2112T>C|1578|FRMPD1|protein_coding|CODING|NM_014907.2|15|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.682,0.6484,0.6074,0.64,0.63,0.64,,,,,,,,,,,,,,,,
synonymous_variant,FRMPD1,SILENT,NM_014907.2:p.Glu1128Glu/c.3384G>A,gaG/gaA,LOW,COSM3763939(1),0.386382,0.2024,rs3747541,,,,,,chr9,37745413,37745413,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1128Glu/c.3384G>A|1578|FRMPD1|protein_coding|CODING|NM_014907.2|16|1),"GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3405,0.4193,0.332,0.41,0.52,0.35,,,,,,,,,,,,,,,,
synonymous_variant,EXOSC3,SILENT,NM_016042.3:p.Gln166Gln/c.498G>A,caG/caA,LOW,COSM3763941(1),0.564097,0.5337,rs7158,,,,,,chr9,37782111,37782111,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln166Gln/c.498G>A|275|EXOSC3|protein_coding|CODING|NM_016042.3|3|1),intron_variant(MODIFIER|||c.475-1234G>A|164|EXOSC3|protein_coding|CODING|NM_001002269.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117006.2,,0.5941,0.5908,0.4841,0.53,0.59,0.50,,,,,,,,,,,,,,,,
synonymous_variant,SHB,SILENT,NM_003028.2:p.Ser310Ser/c.930A>G,tcA/tcG,LOW,COSM4163862(1),0.621805,0.7768,rs1138374,,,,,,chr9,37974743,37974743,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser310Ser/c.930A>G|509|SHB|protein_coding|CODING|NM_003028.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.513,0.5328,0.57,0.69,0.52,,,,,,,,,,,,,,,,
synonymous_variant,SHB,SILENT,NM_003028.2:p.Pro37Pro/c.111T>C,ccT/ccC,LOW,,0.594249,0.369,rs3750444,,,,,,chr9,38068532,38068532,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro37Pro/c.111T>C|509|SHB|protein_coding|CODING|NM_003028.2|1|1),"NHEK:H3K9ac,K562:H3K4me3,K562:PolII,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6605,0.634,0.665,,,,,,,,,,,,,,,,,,,
synonymous_variant,ALDH1B1,SILENT,NM_000692.4:p.Ile65Ile/c.195T>C,atT/atC,LOW,,0.936701,1,rs2228094,,,,,,chr9,38395940,38395940,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile65Ile/c.195T>C|517|ALDH1B1|protein_coding|CODING|NM_000692.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9908,0.9553,0.9612,0.92,0.86,0.95,,,,,,,,,,,,,,,,
missense_variant,ALDH1B1,MISSENSE,NM_000692.4:p.Arg107Leu/c.320G>T,cGc/cTc,MODERATE,COSM1462466(3),0.394968,0.3036,rs2073478,0.01(D),,,-0.9007(T),,chr9,38396065,38396065,G,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg107Leu/c.320G>T|517|ALDH1B1|protein_coding|CODING|NM_000692.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4765,0.3646,0.6093,0.50,0.31,0.60,,0.001953(N),0.003(P),-1.16(T),0.0000(T),0.091,3.476510,5.61,2.79,0.655000,0.332000,2.228000,0.995000,0.990000,0.493000,7.7413
missense_variant,ALDH1B1,MISSENSE,NM_000692.4:p.Val253Met/c.757G>A,Gtg/Atg,MODERATE,,0.938498,1,rs4878199,1(T),0.0(B),-1.845(N),-1.0139(T),,chr9,38396502,38396502,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val253Met/c.757G>A|517|ALDH1B1|protein_coding|CODING|NM_000692.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9888,0.9568,0.9602,0.92,0.86,0.95,,0.000000(N),1.000(P),2.42(T),0.0000(T),0.036,-2.552642,5.51,0.413,-0.972000,-0.448000,2.723000,0.015000,0.831000,1.000000,4.9519
synonymous_variant,IGFBPL1,SILENT,NM_001007563.2:p.Leu26Leu/c.78T>C,ctT/ctC,LOW,COSM4163865(1),0.23123,0.2391,rs35134904,,,,,,chr9,38424344,38424344,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu26Leu/c.78T>C|278|IGFBPL1|protein_coding|CODING|NM_001007563.2|1|1),"HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.2249,0.3141,0.3211,0.12,0.08,0.14,,,,,,,,,,,,,,,,
missense_variant,ANKRD18A,MISSENSE,NM_147195.2:p.Tyr688Cys/c.2063A>G,tAt/tGt,MODERATE,COSM455966(3),0.392173,0.4772,rs2799163,0.18(T),0.515(P),1.12(L),-0.9701(T),,chr9,38588602,38588602,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr688Cys/c.2063A>G|992|ANKRD18A|protein_coding|CODING|NM_147195.2|11|1),,,,,0.1564,0.3718,0.2744,,,,,,1.000(P),1.6(T),0.0000(T),0.229,0.534440,1.39,0.0723,0.145000,0.006000,-0.520000,0.008000,0.001000,0.000000,2.3016
missense_variant,ANKRD18A,MISSENSE,NM_147195.2:p.Asn484Ser/c.1451A>G,aAt/aGt,MODERATE,COSM150613(4),0.331869,0.4603,rs2996347,0.21(T),0.0(B),0.73(N),-0.9336(T),,chr9,38595886,38595886,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn484Ser/c.1451A>G|992|ANKRD18A|protein_coding|CODING|NM_147195.2|9|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1227,0.317,0.2187,0.28,0.45,0.20,,,0.123(P),2.28(T),0.0000(T),0.007,0.361918,1.35,1.35,0.113000,0.892000,0.494000,0.065000,0.009000,0.234000,6.8814
synonymous_variant,ANKRD18A,SILENT,NM_147195.2:p.Leu153Leu/c.457C>T,Ctg/Ttg,LOW,COSM3763943(1),0.00858626,0,rs148902919,,,,,,chr9,38615629,38615629,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu153Leu/c.457C>T|992|ANKRD18A|protein_coding|CODING|NM_147195.2|3|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0051,0.0187,0.0249,0.02,0.01,0.02,,,,,,,,,,,,,,,,
missense_variant,ANKRD18A,MISSENSE,NM_147195.2:p.Glu130Lys/c.388G>A,Gag/Aag,MODERATE,,0.421725,0.5109,rs1832313,1(T),0.0(B),,-0.9507(T),,chr9,38615698,38615698,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu130Lys/c.388G>A|992|ANKRD18A|protein_coding|CODING|NM_147195.2|3|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2781,0.4265,0.4264,0.42,0.45,0.41,,,1.000(P),0.1(T),0.0000(T),0.014,-1.439439,1.4,0.224,-1.220000,-0.357000,0.393000,0.108000,0.000000,0.000000,5.9244
synonymous_variant,CNTNAP3,SILENT,NM_033655.3:p.Arg679Arg/c.2035C>A,Cgg/Agg,LOW,,0.0219649,0,rs149597063,,,,,,chr9,39132974,39132974,G,T,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg679Arg/c.2035C>A|1288|CNTNAP3|protein_coding|CODING|NM_033655.3|13|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0112,0.0346,0.0686,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF658,SILENT,NM_033160.5:p.Pro54Pro/c.162T>C,ccT/ccC,LOW,COSM4163880(1),0.821885,0.8859,rs4339693,,,,,,chr9,40784183,40784183,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro54Pro/c.162T>C|1059|ZNF658|protein_coding|CODING|NM_033160.5|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6493,0.8458,0.8052,,,,,,,,,,,,,,,,,,,
missense_variant,CNTNAP3B,MISSENSE,NM_001201380.2:p.Ser317Thr/c.949T>A,Tca/Aca,MODERATE,COSM1132475(3),0.788938,0.8849,rs62554986,,,0.205(N),,,chr9,43818062,43818062,T,A,het,"missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser317Thr/c.949T>A|1288|CNTNAP3B|protein_coding|CODING|NM_001201380.2|7|1),non_coding_exon_variant(MODIFIER|||n.1048T>A||CNTNAP3P2||NON_CODING|NR_111893.1|7|1)","HUVEC:H3K36me3,HMEC:H3K36me3",,,,0.7342,0.9049,0.8648,,,,,,1.000(P),,,.,-0.980010,2.68,1.63,-1.746000,-0.046000,0.558000,0.434000,0.000000,0.000000,2.4885
missense_variant,CNTNAP3B,MISSENSE,NM_001201380.2:p.Leu652Arg/c.1955T>G,cTc/cGc,MODERATE,COSM1132474(2),,,rs62536501,0.34(T),,-0.46(N),-0.9335(T),,chr9,43861081,43861081,T,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu652Arg/c.1955T>G|1288|CNTNAP3B|protein_coding|CODING|NM_001201380.2|13|1),non_coding_exon_variant(MODIFIER|||n.2054T>G||CNTNAP3P2||NON_CODING|NR_111893.1|13|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,,1.000(P),3.0(T),0.0000(T),0.363,-0.899156,1.94,-3.89,-1.467000,-1.863000,0.143000,0.004000,0.000000,0.000000,4.9769
missense_variant,CBWD6,MISSENSE,NM_001085457.1:p.Trp100Arg/c.298T>C,Tgg/Cgg,MODERATE,,0.123203,0.2083,rs113407575,0.01(D),1.0(D),3.135(M),-0.9866(T),,chr9,69256833,69256833,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp100Arg/c.298T>C|113|CBWD5|protein_coding|CODING|NM_001286836.1|3|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp100Arg/c.298T>C|395|CBWD6|protein_coding|CODING|NM_001085457.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0787,0.0965,0.0825,0.09,0.13,0.08,,0.000000(D),0.000(P),"0.98,0.98,0.98,0.98(T,T,T,T)",0.0015(T),0.476,2.650268,2.53,2.53,0.155000,1.168000,8.056000,0.713000,0.998000,1.000000,8.5798
missense_variant,PRKACG,MISSENSE,NM_002732.3:p.His268Asp/c.802C>G,Cat/Gat,MODERATE,COSM3763965(1),0.321286,0.3145,rs3730386,1(T),0.0(B),-2.415(N),-0.9307(T),,chr9,71628207,71628207,G,C,hom,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His268Asp/c.802C>G|351|PRKACG|protein_coding|CODING|NM_002732.3|1|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4121,0.1772,0.2684,0.29,0.36,0.26,,,1.000(P),3.49(T),0.0000(T),0.091,-1.093767,1.62,1.62,-0.224000,0.027000,2.604000,0.024000,0.001000,1.000000,7.527
synonymous_variant,FXN,SILENT,NM_000144.4:p.Pro18Pro/c.54A>G,ccA/ccG,LOW,,0.984824,1,rs2481598,,,,,,chr9,71650752,71650752,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro18Pro/c.54A>G|210|FXN|protein_coding|CODING|NM_000144.4|1|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro18Pro/c.54A>G|171|FXN|protein_coding|CODING|NM_001161706.1|1|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro18Pro/c.54A>G|196|FXN|protein_coding|CODING|NM_181425.2|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,GM12878:Egr1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,NH-A:CTCF,HepG2:HNF4A,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20,GM06990:CTCF",,RCV000117105.2,,1,0.9986,1,,,,,,,,,,,,,,,,,,,
missense_variant,TJP2,MISSENSE,NM_001170416.1:p.Asp513Glu/c.1539C>A,gaC/gaA,MODERATE,,0.772165,0.874,rs2309428,1(T),"0.003,0.002,0.001,0.001,0.002(B,B,B,B,B)",0(N),-0.9675(T),,chr9,71843023,71843023,C,A,het,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp459Glu/c.1377C>A|1020|TJP2|protein_coding|CODING|NM_001170414.2|10|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp486Glu/c.1458C>A|1157|TJP2|protein_coding|CODING|NM_001170415.1|9|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp513Glu/c.1539C>A|1221|TJP2|protein_coding|CODING|NM_001170416.1|9|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp482Glu/c.1446C>A|993|TJP2|protein_coding|CODING|NM_001170630.1|9|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp482Glu/c.1446C>A|1190|TJP2|protein_coding|CODING|NM_004817.3|9|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp482Glu/c.1446C>A|1043|TJP2|protein_coding|CODING|NM_201629.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000037067.1,,0.7546,0.8242,0.829,0.76,0.66,0.81,,0.131485(N),0.001(P),"3.13,3.11,3.13,3.12,3.13,3.17(T,T,T,T,T,T)",0.0000(T),0.055,-2.120600,5.33,-1.25,-0.262000,0.107000,-0.095000,0.146000,0.230000,0.001000,0.8674
missense_variant,TJP2,MISSENSE,NM_001170630.1:p.His992Arg/c.2975A>G,cAt/cGt,MODERATE,COSM1319585(2),0.053115,0.0069,rs77236826,,0.0(B),,-0.9447(T),,chr9,71863235,71863235,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His992Arg/c.2975A>G|993|TJP2|protein_coding|CODING|NM_001170630.1|19|1),intron_variant(MODIFIER|||c.2973+95A>G|1221|TJP2|protein_coding|CODING|NM_001170416.1|19|1),intron_variant(MODIFIER|||c.2880+95A>G|1190|TJP2|protein_coding|CODING|NM_004817.3|19|1),intron_variant(MODIFIER|||c.2892+95A>G|1157|TJP2|protein_coding|CODING|NM_001170415.1|19|1),intron_variant(MODIFIER|||c.2811+95A>G|1020|TJP2|protein_coding|CODING|NM_001170414.2|20|1),intron_variant(MODIFIER|||c.2880+95A>G|1043|TJP2|protein_coding|CODING|NM_201629.3|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000037085.1,,0.0808,0.0519,0.0815,0.07,0.06,0.08,,,1.000(N),3.09(T),0.0005(T),0.029,1.782859,4.93,-9.87,-1.167000,-1.910000,-0.094000,0.003000,0.000000,0.000000,8.1873
synonymous_variant,C9orf135,SILENT,NM_001010940.1:p.Thr129Thr/c.387C>T,acC/acT,LOW,COSM3763973(1),0.270567,0.4067,rs10780682,,,,-0.9327(T),,chr9,72472831,72472831,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr129Thr/c.387C>T|229|C9orf135|protein_coding|CODING|NM_001010940.1|4|1),H1ESC:H3K36me3,,,,0.2914,0.2925,0.331,0.27,0.14,0.33,,,0.000(P),,0.0000(T),.,-1.118773,5.2,-0.0103,-1.120000,-0.170000,0.095000,0.004000,0.986000,0.991000,4.5019
synonymous_variant,MAMDC2,SILENT,NM_153267.4:p.Tyr272Tyr/c.816C>T,taC/taT,LOW,COSM3982909(1),0.101238,0.2044,rs2296772,,,,,,chr9,72741247,72741247,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr272Tyr/c.816C>T|686|MAMDC2|protein_coding|CODING|NM_153267.4|6|1),"HMEC:H3K36me3,HSMM:H3K36me3",,,,0.1912,0.0331,0.0825,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,MAMDC2,SILENT,NM_153267.4:p.Ala289Ala/c.867G>A,gcG/gcA,LOW,,0.101038,0.2044,rs2296773,,,,,,chr9,72741298,72741298,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala289Ala/c.867G>A|686|MAMDC2|protein_coding|CODING|NM_153267.4|6|1),"HMEC:H3K36me3,HSMM:H3K36me3",,,,0.1902,0.0331,0.0825,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,MAMDC2,MISSENSE,NM_153267.4:p.Ser294Asn/c.881G>A,aGt/aAt,MODERATE,COSM4164000(1),0.866014,1,rs1998972,0.63(T),0.029(B),1.155(L),-0.9427(T),,chr9,72741312,72741312,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser294Asn/c.881G>A|686|MAMDC2|protein_coding|CODING|NM_153267.4|6|1),"HMEC:H3K36me3,HSMM:H3K36me3",,,,0.9611,0.9452,0.9394,0.84,0.65,0.94,,0.000031(N),0.999(P),4.39(T),0.0000(T),0.014,-0.879356,6.04,3.96,-0.361000,0.289000,0.766000,0.597000,0.859000,0.297000,7.8559
missense_variant,SMC5,MISSENSE,NM_015110.3:p.Val306Ile/c.916G>A,Gta/Ata,MODERATE,,0.855032,0.8532,rs1180116,0.57(T),0.001(B),-0.255(N),-1.0346(T),,chr9,72897434,72897434,G,A,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val306Ile/c.916G>A|1101|SMC5|protein_coding|CODING|NM_015110.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8804,0.902,0.9066,0.86,0.76,0.90,,0.053893(N),1.000(P),2.34(T),0.0000(T),0.029,0.046766,5.61,-1.31,-1.228000,-0.106000,-0.059000,0.645000,0.272000,0.002000,0.5036
missense_variant,SMC5,MISSENSE,NM_015110.3:p.Cys308Arg/c.922T>C,Tgt/Cgt,MODERATE,COSM3982911(1),0.246006,0.2659,rs1180117,0.57(T),0.0(B),-0.805(N),-0.9170(T),,chr9,72897440,72897440,T,C,het,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys308Arg/c.922T>C|1101|SMC5|protein_coding|CODING|NM_015110.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.319,0.1542,0.1928,0.22,0.24,0.20,,0.278842(N),1.000(P),2.38(T),0.0000(T),0.062,-1.486534,5.61,2.61,-0.128000,0.076000,0.328000,0.626000,0.000000,0.000000,3.2463
missense_variant,TRPM3,MISSENSE,NM_001007471.2:p.Arg1670Gln/c.5009G>A,cGa/cAa,MODERATE,COSM4164002(1),0.600839,0.7937,rs6560142,0.25(T),"0.986,0.979,0.233,0.381,0.979,0.979,0.953(D,D,B,B,D,D,D)",0.695(N),-0.9948(T),,chr9,73150984,73150984,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1670Gln/c.5009G>A|1707|TRPM3|protein_coding|CODING|NM_001007471.2|25|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1517Gln/c.4550G>A|1554|TRPM3|protein_coding|CODING|NM_020952.4|25|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1529Gln/c.4586G>A|1566|TRPM3|protein_coding|CODING|NM_024971.5|26|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1507Gln/c.4520G>A|1544|TRPM3|protein_coding|CODING|NM_206944.3|24|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1519Gln/c.4556G>A|1556|TRPM3|protein_coding|CODING|NM_206945.3|25|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1542Gln/c.4625G>A|1579|TRPM3|protein_coding|CODING|NM_206946.3|26|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1532Gln/c.4595G>A|1569|TRPM3|protein_coding|CODING|NM_206947.3|25|1)",NHEK:H3K27me3,,,,0.4008,0.5764,0.5835,0.57,0.62,0.55,,0.000000(D),0.000(P),"0.36,0.27,0.27,0.25,0.36,0.25,0.28,0.27,0.27,0.35(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.741,4.765198,5.77,5.77,0.655000,2.729000,7.487000,0.994000,1.000000,1.000000,19.9981
synonymous_variant,TRPM3,SILENT,NM_001007471.2:p.Leu1426Leu/c.4278G>A,ctG/ctA,LOW,,0.855831,0.9762,rs7033976,,,,-1.0235(T),,chr9,73151715,73151715,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1426Leu/c.4278G>A|1707|TRPM3|protein_coding|CODING|NM_001007471.2|25|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1273Leu/c.3819G>A|1554|TRPM3|protein_coding|CODING|NM_020952.4|25|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1285Leu/c.3855G>A|1566|TRPM3|protein_coding|CODING|NM_024971.5|26|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1263Leu/c.3789G>A|1544|TRPM3|protein_coding|CODING|NM_206944.3|24|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1275Leu/c.3825G>A|1556|TRPM3|protein_coding|CODING|NM_206945.3|25|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1298Leu/c.3894G>A|1579|TRPM3|protein_coding|CODING|NM_206946.3|26|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1288Leu/c.3864G>A|1569|TRPM3|protein_coding|CODING|NM_206947.3|25|1)","K562:H3K27me3,NHEK:H3K27me3",,,,0.6779,0.915,0.8658,0.86,0.86,0.86,,,0.000(P),,0.0000(T),.,-0.234468,6.02,0.538,-0.140000,0.450000,-0.115000,0.926000,0.985000,0.221000,1.1439
synonymous_variant,TRPM3,SILENT,NM_001007471.2:p.Ser1341Ser/c.4023G>A,tcG/tcA,LOW,,0.562101,0.6954,rs3739776,,,,-0.9897(T),,chr9,73151970,73151970,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1341Ser/c.4023G>A|1707|TRPM3|protein_coding|CODING|NM_001007471.2|25|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1188Ser/c.3564G>A|1554|TRPM3|protein_coding|CODING|NM_020952.4|25|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1200Ser/c.3600G>A|1566|TRPM3|protein_coding|CODING|NM_024971.5|26|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1178Ser/c.3534G>A|1544|TRPM3|protein_coding|CODING|NM_206944.3|24|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1190Ser/c.3570G>A|1556|TRPM3|protein_coding|CODING|NM_206945.3|25|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1213Ser/c.3639G>A|1579|TRPM3|protein_coding|CODING|NM_206946.3|26|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1203Ser/c.3609G>A|1569|TRPM3|protein_coding|CODING|NM_206947.3|25|1)","K562:H3K27me3,NHEK:H3K27me3",,,,0.3875,0.5706,0.5815,0.56,0.58,0.55,,,0.001(P),,0.0000(T),.,-0.636184,6.17,-11.7,-2.455000,-1.804000,-1.088000,0.877000,0.493000,0.007000,7.3724
synonymous_variant,TRPM3,SILENT,NM_001007471.2:p.Ala211Ala/c.633A>T,gcA/gcT,LOW,,0.520567,0.2728,rs7862440,,,,-0.9382(T),,chr9,73461337,73461337,T,A,het,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|255|TRPM3|protein_coding|CODING|NM_001007470.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala211Ala/c.633A>T|1707|TRPM3|protein_coding|CODING|NM_001007471.2|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|1554|TRPM3|protein_coding|CODING|NM_020952.4|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|1566|TRPM3|protein_coding|CODING|NM_024971.5|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|1544|TRPM3|protein_coding|CODING|NM_206944.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|1556|TRPM3|protein_coding|CODING|NM_206945.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|1579|TRPM3|protein_coding|CODING|NM_206946.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|1569|TRPM3|protein_coding|CODING|NM_206947.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala58Ala/c.174A>T|230|TRPM3|protein_coding|CODING|NM_206948.2|4|1)",,,,,0.592,0.5591,0.5835,0.58,0.56,0.59,,,0.000(P),,0.0000(T),.,1.423613,5.54,2.61,-1.003000,0.020000,0.268000,0.974000,0.998000,0.994000,2.883
missense_variant,TMEM2,MISSENSE,NM_013390.2:p.Ser1254Asn/c.3761G>A,aGc/aAc,MODERATE,,0.101837,0.0843,rs2297089,0.08(T),"0.01,0.023(B,B)",1.795(L),-1.0988(T),,chr9,74305098,74305098,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1191Asn/c.3572G>A|1320|TMEM2|protein_coding|CODING|NM_001135820.1|21|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1254Asn/c.3761G>A|1383|TMEM2|protein_coding|CODING|NM_013390.2|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII",,,,0.0511,0.0317,0.0229,0.08,0.21,0.02,,0.000001(D),0.057(P),"-0.88,-0.8,2.36(T,T,T)",0.0003(T),0.08,3.004143,5.98,5.98,0.650000,2.835000,0.639000,0.582000,0.963000,0.513000,14.7887
synonymous_variant,C9orf57,SILENT,NM_001128618.1:p.Lys68Lys/c.204A>G,aaA/aaG,LOW,,0.266374,0.0774,rs13295099,,,,,,chr9,74671719,74671719,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys68Lys/c.204A>G|161|C9orf57|protein_coding|CODING|NM_001128618.1|3|1),,,,,0.2812,0.3228,0.5467,0.46,0.22,0.56,,,,,,,,,,,,,,,,
synonymous_variant,TMC1,SILENT,NM_138691.2:p.Asp15Asp/c.45C>T,gaC/gaT,LOW,COSM3763989(2),0.510783,0.4187,rs2589615,,,,,,chr9,75303653,75303653,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp15Asp/c.45C>T|760|TMC1|protein_coding|CODING|NM_138691.2|6|1),HUVEC:H3K27me3,,RCV000041144.1,,0.4039,0.4496,0.4085,0.53,0.72,0.43,,,,,,,,,,,,,,,,
synonymous_variant,TMC1,SILENT,NM_138691.2:p.Phe571Phe/c.1713C>T,ttC/ttT,LOW,,0.048123,0.0089,rs34532421,,,,,,chr9,75431076,75431076,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe571Phe/c.1713C>T|760|TMC1|protein_coding|CODING|NM_138691.2|19|1),,,RCV000041133.1,,0.0358,0.072,0.1123,0.10,0.04,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ALDH1A1,SILENT,NM_000689.4:p.Ser75Ser/c.225C>T,tcC/tcT,LOW,,0.409345,0.4554,rs13959,,,,,,chr9,75545882,75545882,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser75Ser/c.225C>T|501|ALDH1A1|protein_coding|CODING|NM_000689.4|3|1),"HUVEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:H3K36me3",,,,0.5378,0.4885,0.503,0.41,0.25,0.50,,,,,,,,,,,,,,,,
synonymous_variant,TRPM6,SILENT,NM_017662.4:p.Asn1588Asn/c.4764T>C,aaT/aaC,LOW,,0.16873,0.1597,rs2274925,,,,,,chr9,77376633,77376633,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1583Asn/c.4749T>C|2017|TRPM6|protein_coding|CODING|NM_001177310.1|27|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1583Asn/c.4749T>C|2017|TRPM6|protein_coding|CODING|NM_001177311.1|27|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1588Asn/c.4764T>C|2022|TRPM6|protein_coding|CODING|NM_017662.4|27|1)",,,,,0.1043,0.0663,0.0785,0.15,0.32,0.07,,,,,,,,,,,,,,,,
missense_variant,TRPM6,MISSENSE,NM_017662.4:p.Lys1584Glu/c.4750A>G,Aag/Gag,MODERATE,COSM3736485(2),0.294928,0.3155,rs2274924,0.03(D),"0.326,0.426,0.526(B,B,P)",1.845(L),-0.9758(T),,chr9,77376647,77376647,T,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1579Glu/c.4735A>G|2017|TRPM6|protein_coding|CODING|NM_001177310.1|27|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1579Glu/c.4735A>G|2017|TRPM6|protein_coding|CODING|NM_001177311.1|27|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1584Glu/c.4750A>G|2022|TRPM6|protein_coding|CODING|NM_017662.4|27|1)",,,,,0.316,0.147,0.1571,0.24,0.39,0.16,,0.021226(N),0.000(P),"0.55,0.55,0.56,0.55,0.46(T,T,T,T,T)",0.0000(T),0.212,3.179714,5.77,4.64,0.528000,1.131000,1.602000,0.405000,0.558000,0.888000,10.7405
synonymous_variant,TRPM6,SILENT,NM_017662.4:p.Leu708Leu/c.2124T>G,ctT/ctG,LOW,COSM3982920(2),0.460863,0.3482,rs7859201,,,,,,chr9,77415284,77415284,A,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu703Leu/c.2109T>G|2017|TRPM6|protein_coding|CODING|NM_001177310.1|17|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu703Leu/c.2109T>G|2017|TRPM6|protein_coding|CODING|NM_001177311.1|17|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu708Leu/c.2124T>G|2022|TRPM6|protein_coding|CODING|NM_017662.4|17|1)",,,,,0.3701,0.3415,0.3728,0.48,0.66,0.38,,,,,,,,,,,,,,,,
synonymous_variant,TRPM6,SILENT,NM_017662.4:p.Leu617Leu/c.1851G>A,ctG/ctA,LOW,COSM3763990(2),0.0892572,0.1558,rs11144089,,,,,,chr9,77416972,77416972,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu612Leu/c.1836G>A|2017|TRPM6|protein_coding|CODING|NM_001177310.1|16|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu612Leu/c.1836G>A|2017|TRPM6|protein_coding|CODING|NM_001177311.1|16|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu617Leu/c.1851G>A|2022|TRPM6|protein_coding|CODING|NM_017662.4|16|1)",,,,,0.0767,0.1066,0.1074,0.07,0.04,0.09,,,,,,,,,,,,,,,,
synonymous_variant,TRPM6,SILENT,NM_017662.4:p.Gly318Gly/c.954C>T,ggC/ggT,LOW,,0.358826,0.5536,rs7018994,,,,,,chr9,77436641,77436641,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly313Gly/c.939C>T|2017|TRPM6|protein_coding|CODING|NM_001177310.1|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly313Gly/c.939C>T|2017|TRPM6|protein_coding|CODING|NM_001177311.1|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly318Gly/c.954C>T|2022|TRPM6|protein_coding|CODING|NM_017662.4|8|1)",,,,,0.4714,0.4438,0.3787,0.27,0.12,0.35,,,,,,,,,,,,,,,,
missense_variant,TRPM6,MISSENSE,NM_001177311.1:p.Thr2Ile/c.5C>T,aCa/aTa,MODERATE,,0.397963,0.5446,rs1333342,0.37(T),0.064(B),,-0.9057(T),,chr9,77502160,77502160,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr2Ile/c.5C>T|2017|TRPM6|protein_coding|CODING|NM_001177311.1|1|1),intron_variant(MODIFIER|||c.18+387C>T|2017|TRPM6|protein_coding|CODING|NM_001177310.1|1|1),intron_variant(MODIFIER|||c.33+580C>T|2022|TRPM6|protein_coding|CODING|NM_017662.4|1|1)","K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4785,0.5303,0.4622,,,,,,0.000(P),0.73(T),0.0000(T),0.072,1.773574,2.78,1.87,0.591000,0.730000,0.023000,0.014000,0.899000,0.217000,7.4229
synonymous_variant,C9orf40,SILENT,NM_017998.2:p.Gln154Gln/c.462G>A,caG/caA,LOW,COSM150620(1),0.323283,0.3988,rs2769058,,,,,,chr9,77563087,77563087,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln154Gln/c.462G>A|194|C9orf40|protein_coding|CODING|NM_017998.2|2|1),"HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3",,,,0.3221,0.3458,0.3429,0.30,0.26,0.32,,,,,,,,,,,,,,,,
synonymous_variant,NMRK1,SILENT,NM_017881.2:p.Thr119Thr/c.357T>G,acT/acG,LOW,,0.620208,0.6776,rs3752955,,,,,,chr9,77684690,77684690,A,C,het,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr119Thr/c.357T>G|199|NMRK1|protein_coding|CODING|NM_017881.2|6|1),intron_variant(MODIFIER|||c.317+121T>G|175|NMRK1|protein_coding|CODING|NM_001127603.1|5|1),non_coding_exon_variant(MODIFIER|||n.859T>G||NMRK1||CODING|NR_023352.1|7|1)","HUVEC:H3K36me3,NHEK:H3K36me3",,,,0.5174,0.5893,0.5268,0.60,0.71,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PCSK5,SILENT,NM_001190482.1:p.Cys767Cys/c.2301C>T,tgC/tgT,LOW,,0.0870607,0,rs10521468,,,,,,chr9,78803512,78803512,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys767Cys/c.2301C>T|1860|PCSK5|protein_coding|CODING|NM_001190482.1|18|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys767Cys/c.2301C>T|913|PCSK5|protein_coding|CODING|NM_006200.5|18|1),non_coding_exon_variant(MODIFIER|||n.2735C>T||PCSK5||CODING|NR_120409.1|17|1)","IMR90:H3K36me3,CD4:H3K36me3",,,,0.0665,0.1326,0.1849,0.15,0.09,0.18,,,,,,,,,,,,,,,,
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Glu1079Ala/c.3236A>C,gAa/gCa,MODERATE,,0.230831,0.0804,rs2842480,0.57(T),,1.04(L),-0.9231(T),,chr9,78910241,78910241,A,C,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu1079Ala/c.3236A>C|1860|PCSK5|protein_coding|CODING|NM_001190482.1|26|1),,,,,0.1564,0.2104,0.2406,0.27,0.37,0.22,,0.034587(N),1.000(P),"1.54,1.55(T,T)",0.0000(T),0.069,-0.886413,5.7,1.79,0.533000,0.036000,1.947000,0.011000,0.002000,0.980000,8.3655
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Gly1090Ser/c.3268G>A,Ggc/Agc,MODERATE,,0.230831,0.0804,rs2643325,0.77(T),,0.455(N),-0.9462(T),,chr9,78910273,78910273,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1090Ser/c.3268G>A|1860|PCSK5|protein_coding|CODING|NM_001190482.1|26|1),,,,,0.1564,0.2104,0.2406,0.27,0.37,0.22,,0.035390(N),0.000(P),"1.64,1.64(T,T)",0.0000(T),0.094,1.555625,5.7,2.62,0.655000,0.688000,0.725000,0.905000,0.912000,0.069000,1.1709
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Gly1275Asp/c.3824G>A,gGc/gAc,MODERATE,COSM3763998(3),0.319089,0.1369,rs1110222,0.42(T),,2.14(M),-0.8850(T),,chr9,78936358,78936358,G,A,hom,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly1275Asp/c.3824G>A|1860|PCSK5|protein_coding|CODING|NM_001190482.1|30|1),"HeLa-S3:DNase1,IMR90:DNase1,H1ESC:DNase1,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NHEK:DNase1,K562:DNase1",,,,0.3528,0.2378,0.341,0.36,0.44,0.33,,0.008997(N),1.000(P),"1.52,1.47(T,T)",0.0000(T),0.053,0.945778,5.5,4.61,0.561000,1.334000,0.922000,0.004000,0.002000,0.005000,8.5591
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Lys1320Glu/c.3958A>G,Aag/Gag,MODERATE,COSM3764001(2),0.31889,0.1369,rs1110223,1(T),,-0.51(N),-0.9421(T),,chr9,78936492,78936492,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1320Glu/c.3958A>G|1860|PCSK5|protein_coding|CODING|NM_001190482.1|30|1),"HeLa-S3:DNase1,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,NHEK:DNase1",,,,0.3517,0.2378,0.341,0.36,0.44,0.33,,0.019557(N),0.000(P),"0.78,1.64(T,T)",0.0000(T),0.024,-0.563675,5.68,4.78,-0.802000,0.753000,2.286000,0.398000,0.887000,1.000000,9.362
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Thr1343Met/c.4028C>T,aCg/aTg,MODERATE,COSM3764003(2),0.489417,0.2093,rs3001772,0.16(T),,-0.42(N),-1.0648(T),,chr9,78937974,78937974,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1343Met/c.4028C>T|1860|PCSK5|protein_coding|CODING|NM_001190482.1|31|1),K562:H3K27me3,,,,0.4928,0.4337,0.5487,0.58,0.65,0.54,,0.019810(N),0.000(P),"1.54,1.52(T,T)",0.0000(T),0.074,1.305791,5.65,5.65,-0.269000,0.976000,1.767000,0.779000,1.000000,1.000000,10.9166
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Arg1366His/c.4097G>A,cGc/cAc,MODERATE,COSM3764004(2),0.320487,0.1369,rs2495207,0.14(T),,1.91(M),-0.9079(T),,chr9,78938043,78938043,G,A,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1366His/c.4097G>A|1860|PCSK5|protein_coding|CODING|NM_001190482.1|31|1),K562:H3K27me3,,,,0.3395,0.2349,0.3529,0.37,0.45,0.34,,0.684122(N),1.000(P),"1.57,1.6(T,T)",0.0000(T),0.074,1.976900,5.65,-1.45,0.650000,0.077000,-0.184000,0.082000,0.013000,0.000000,7.6077
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Glu1414Gln/c.4240G>C,Gag/Cag,MODERATE,COSM3764006(2),0.321685,0.1369,rs2803429,0.56(T),,0.96(L),-0.9372(T),,chr9,78938186,78938186,G,C,hom,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu1414Gln/c.4240G>C|1860|PCSK5|protein_coding|CODING|NM_001190482.1|31|1),K562:H3K27me3,,,,0.3425,0.2392,0.3529,0.37,0.45,0.34,,0.266049(N),1.000(P),"1.6,1.67(T,T)",0.0000(T),0.08,0.109191,5.35,-5.44,-0.859000,-1.152000,0.431000,0.000000,0.000000,0.000000,2.3399
synonymous_variant,PCSK5,SILENT,NM_001190482.1:p.Ser1430Ser/c.4290A>G,tcA/tcG,LOW,COSM3982932(1),0.51238,0.2123,rs2259969,,,,,,chr9,78942956,78942956,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1430Ser/c.4290A>G|1860|PCSK5|protein_coding|CODING|NM_001190482.1|32|1),HUVEC:H3K27me3,,,,0.498,0.451,0.6024,0.61,0.67,0.59,,,,,,,,,,,,,,,,
missense_variant,PCSK5,MISSENSE,NM_001190482.1:p.Asp1699Glu/c.5097C>A,gaC/gaA,MODERATE,COSM4164022(1),0.232029,0.0863,rs7036921,0.93(T),,0.645(N),-1.0597(T),,chr9,78969059,78969059,C,A,hom,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp1699Glu/c.5097C>A|1860|PCSK5|protein_coding|CODING|NM_001190482.1|36|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.316,0.1873,0.2932,,,,,0.004898(N),0.190(P),"-0.1,-0.1(T,T)",0.0000(T),0.09,-0.130284,5.82,0.0282,-0.304000,0.341000,-0.235000,0.115000,0.148000,0.000000,2.861
missense_variant,GCNT1,MISSENSE,NM_001097633.1:p.Pro368Leu/c.1103C>T,cCc/cTc,MODERATE,,0.00199681,0,rs147866228,,1.0(D),2.61(M),-1.0415(T),,chr9,79118400,79118400,C,T,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro368Leu/c.1103C>T|428|GCNT1|protein_coding|CODING|NM_001097633.1|3|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro368Leu/c.1103C>T|428|GCNT1|protein_coding|CODING|NM_001097634.1|3|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro368Leu/c.1103C>T|428|GCNT1|protein_coding|CODING|NM_001097635.1|3|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro368Leu/c.1103C>T|428|GCNT1|protein_coding|CODING|NM_001097636.1|2|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro368Leu/c.1103C>T|428|GCNT1|protein_coding|CODING|NM_001490.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.006,0.01,0.00,0.01,,0.000111(D),1.000(D),"2.8,2.8,2.8,2.8(T,T,T,T)",0.0720(T),0.177,2.600144,6.17,5.28,0.655000,1.635000,2.020000,0.047000,0.987000,0.432000,15.5517
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Asn2721Ser/c.8162A>G,aAt/aGt,MODERATE,COSM4164025(1),0.131589,0.1716,rs4745571,0.47(T),"0.098,0.091(B,B)",2.045(M),-1.0348(T),,chr9,79318367,79318367,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn2721Ser/c.8162A>G|3088|PRUNE2|protein_coding|CODING|NM_015225.2|9|1),"HSMM:H3K36me3,HUVEC:DNase1",,,,0.092,0.2666,0.166,0.14,0.06,0.17,,0.017863(N),0.000(P),"0.6,0.62(T,T)",0.0000(T),0.067,1.542186,5.6,0.607,-0.342000,-0.121000,0.440000,0.619000,0.996000,0.997000,9.364
synonymous_variant,PRUNE2,SILENT,NM_015225.2:p.Leu2686Leu/c.8058G>A,ttG/ttA,LOW,,0.784345,0.9127,rs560094,,,,-1.0406(T),,chr9,79318471,79318471,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu2686Leu/c.8058G>A|3088|PRUNE2|protein_coding|CODING|NM_015225.2|9|1),"HSMM:H3K36me3,HUVEC:DNase1",,,,0.7638,0.8228,0.7714,0.75,0.71,0.76,,,1.000(P),,0.0000(T),.,0.436558,5.93,-0.391,-0.332000,-0.090000,-0.007000,0.816000,0.000000,0.000000,1.0369
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Ser2618Gly/c.7852A>G,Agc/Ggc,MODERATE,COSM4164026(1),0.784545,0.9127,rs561970,0.5(T),,-0.805(N),-0.9736(T),,chr9,79318677,79318677,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser2618Gly/c.7852A>G|3088|PRUNE2|protein_coding|CODING|NM_015225.2|9|1),HSMM:H3K36me3,,,,0.7648,0.8228,0.7714,0.75,0.71,0.76,,,1.000(P),0.83(T),0.0000(T),.,-2.444966,5.72,0.474,-1.054000,-0.138000,0.109000,0.004000,0.000000,0.001000,6.3893
synonymous_variant,PRUNE2,SILENT,NM_015225.2:p.Cys2536Cys/c.7608T>C,tgT/tgC,LOW,,0.429113,0.3522,rs386601947,,,,-0.9734(T),,chr9,79318921,79318921,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys2536Cys/c.7608T>C|3088|PRUNE2|protein_coding|CODING|NM_015225.2|9|1),HSMM:H3K36me3,,,,0.5194,0.634,0.5865,0.50,0.27,0.60,,,1.000(P),,0.0000(T),.,-1.025963,6.08,-6.06,-0.177000,-0.623000,-1.646000,0.099000,0.000000,0.000000,9.8403
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Ser2511Pro/c.7531T>C,Tca/Cca,MODERATE,,0.784345,0.9127,rs620552,0.12(T),,0.84(L),-0.9304(T),,chr9,79318998,79318998,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser2511Pro/c.7531T>C|3088|PRUNE2|protein_coding|CODING|NM_015225.2|9|1),HSMM:H3K36me3,,,,0.7638,0.8228,0.7714,0.75,0.71,0.76,,,1.000(P),0.78(T),0.0000(T),.,2.289312,5.76,1.82,-1.028000,0.101000,-0.256000,0.711000,0.000000,0.000000,3.7763
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Ala2184Thr/c.6550G>A,Gcc/Acc,MODERATE,,0.796925,0.9117,rs512110,0.8(T),0.001(B),1.01(L),-1.0188(T),,chr9,79320640,79320640,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala2184Thr/c.6550G>A|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3",,,,0.7628,0.8228,0.7734,0.76,0.75,0.76,,0.243830(N),1.000(P),"0.92,0.92(T,T)",0.0000(T),0.168,-0.122216,5.57,-2.67,-0.713000,-0.785000,-2.081000,0.001000,0.018000,0.000000,0.1093
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Thr1972Ala/c.5914A>G,Aca/Gca,MODERATE,,0.784545,0.9117,rs517634,,,-0.69(N),-1.0445(T),,chr9,79321276,79321276,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr1972Ala/c.5914A>G|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.7638,0.8213,0.7734,0.75,0.71,0.76,,,1.000(P),,0.0000(T),.,-1.311684,5.51,0.194,-1.157000,-0.048000,0.065000,0.001000,0.000000,0.001000,4.1666
synonymous_variant,PRUNE2,SILENT,NM_015225.2:p.Thr1773Thr/c.5319G>A,acG/acA,LOW,,0.516374,0.4464,rs577993,,,,-0.9385(T),,chr9,79321871,79321871,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1773Thr/c.5319G>A|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5818,0.6571,0.6153,0.58,0.43,0.64,,,1.000(P),,0.0000(T),.,-1.652482,5.73,-3.5,0.655000,-0.334000,-0.645000,0.027000,0.000000,0.000000,1.431
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.His1708Asn/c.5122C>A,Cac/Aac,MODERATE,,0.501597,0.4454,rs683866,0.53(T),0.002(B),0.69(N),-0.9274(T),,chr9,79322068,79322068,G,T,het,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His1708Asn/c.5122C>A|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5757,0.6427,0.5984,0.55,0.41,0.62,,0.631677(N),0.004(P),"1.1,1.09(T,T)",0.0000(T),0.064,-1.274175,5.19,5.19,0.655000,2.413000,0.848000,0.022000,0.044000,0.104000,11.5076
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Cys1506Arg/c.4516T>C,Tgt/Cgt,MODERATE,,0.786342,0.9117,rs386605231,0.12(T),0.0(B),0(N),-1.0387(T),,chr9,79322674,79322674,A,G,het,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1506Arg/c.4516T>C|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7658,0.8213,0.7734,0.75,0.71,0.76,,0.433713(N),1.000(P),"0.99,0.99(T,T)",0.0000(T),0.409,0.937813,5.61,0.642,-1.000000,-0.304000,1.031000,0.001000,0.000000,0.951000,1.8526
synonymous_variant,PRUNE2,SILENT,NM_015225.2:p.Asp1490Asp/c.4470T>C,gaT/gaC,LOW,,0.777157,0.9117,rs386605229,,,,-1.0995(T),,chr9,79322720,79322720,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1490Asp/c.4470T>C|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7638,0.8213,0.7734,0.74,0.69,0.76,,,1.000(P),,0.0000(T),.,0.045792,5.49,-7.78,-0.726000,-2.039000,-0.933000,0.006000,0.000000,0.000000,11.6158
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Thr1004Met/c.3011C>T,aCg/aTg,MODERATE,COSM4164027(1),0.431709,0.3591,rs530978,0.21(T),0.367(B),0.55(N),-0.9465(T),,chr9,79324179,79324179,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1004Met/c.3011C>T|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,NH-A:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5215,0.634,0.5885,0.50,0.27,0.61,,0.245955(N),1.000(P),"0.95,0.95(T,T)",0.0000(T),0.171,2.752540,5.94,2.98,0.561000,0.857000,0.447000,0.002000,0.001000,0.000000,5.2005
missense_variant,PRUNE2,MISSENSE,NM_015225.2:p.Asn817Asp/c.2449A>G,Aat/Gat,MODERATE,,0.461861,0.3601,rs557352,,,1.04(L),-0.9870(T),,chr9,79324741,79324741,T,C,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn817Asp/c.2449A>G|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5286,0.6412,0.5885,0.53,0.37,0.60,,,0.000(P),,0.0000(T),.,0.686425,5.65,5.65,0.379000,2.152000,1.282000,0.535000,1.000000,1.000000,10.4859
synonymous_variant,PRUNE2,SILENT,NM_015225.2:p.Thr544Thr/c.1632C>G,acC/acG,LOW,,0.483027,0.4504,rs600859,,,,,,chr9,79325558,79325558,G,C,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr544Thr/c.1632C>G|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5757,0.6383,0.5974,0.53,0.35,0.62,,,,,,,,,,,,,,,,
synonymous_variant,PRUNE2,SILENT,NM_015225.2:p.Ser525Ser/c.1575T>C,agT/agC,LOW,,0.785343,0.9157,rs611461,,,,,,chr9,79325615,79325615,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser525Ser/c.1575T>C|3088|PRUNE2|protein_coding|CODING|NM_015225.2|8|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7638,0.8213,0.7734,0.75,0.71,0.76,,,,,,,,,,,,,,,,
synonymous_variant,VPS13A,SILENT,NM_033305.2:p.Tyr2009Tyr/c.6027C>T,taC/taT,LOW,COSM4138996(1),0.0688898,0.1091,rs17424026,,,,-1.0356(T),,chr9,79946961,79946961,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1970Tyr/c.5910C>T|3135|VPS13A|protein_coding|CODING|NM_001018037.1|45|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2009Tyr/c.6027C>T|3069|VPS13A|protein_coding|CODING|NM_001018038.2|46|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2009Tyr/c.6027C>T|3095|VPS13A|protein_coding|CODING|NM_015186.3|46|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2009Tyr/c.6027C>T|3174|VPS13A|protein_coding|CODING|NM_033305.2|46|1)",NHEK:H3K36me3,,,,0.0573,0.0576,0.0954,0.08,0.05,0.09,,,0.000(P),,0.0043(T),.,0.686428,5.65,1.82,-0.440000,0.150000,1.220000,0.959000,0.994000,1.000000,9.6039
synonymous_variant,VPS13A,SILENT,NM_033305.2:p.Gly3023Gly/c.9069A>G,ggA/ggG,LOW,,0.415136,0.3542,rs3737289,,,,,,chr9,79986057,79986057,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly2984Gly/c.8952A>G|3135|VPS13A|protein_coding|CODING|NM_001018037.1|66|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly3023Gly/c.9069A>G|3069|VPS13A|protein_coding|CODING|NM_001018038.2|67|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly3023Gly/c.9069A>G|3095|VPS13A|protein_coding|CODING|NM_015186.3|67|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly3023Gly/c.9069A>G|3174|VPS13A|protein_coding|CODING|NM_033305.2|67|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5429,0.5159,0.4394,0.40,0.33,0.43,,,,,,,,,,,,,,,,
synonymous_variant,GNA14,SILENT,NM_004297.3:p.Ser150Ser/c.450G>A,tcG/tcA,LOW,,0.358027,0.3512,rs1801258,,,,,,chr9,80049298,80049298,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser150Ser/c.450G>A|355|GNA14|protein_coding|CODING|NM_004297.3|3|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2464,0.33,0.2942,0.35,0.48,0.28,,,,,,,,,,,,,,,,
synonymous_variant,CEP78,SILENT,NM_001098802.1:p.Ser28Ser/c.84G>C,tcG/tcC,LOW,COSM3764020(2),0.283746,0.2738,rs10867166,,,,,,chr9,80851350,80851350,G,C,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser28Ser/c.84G>C|722|CEP78|protein_coding|CODING|NM_001098802.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser28Ser/c.84G>C|706|CEP78|protein_coding|CODING|NM_032171.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.3671,0.3199,0.3559,0.30,0.16,0.37,,,,,,,,,,,,,,,,
synonymous_variant,PSAT1,SILENT,NM_058179.3:p.Ala99Ala/c.297T>G,gcT/gcG,LOW,COSM4164046(1),0.499401,0.2649,rs3739474,,,,,,chr9,80919756,80919756,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala99Ala/c.297T>G|324|PSAT1|protein_coding|CODING|NM_021154.4|4|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala99Ala/c.297T>G|370|PSAT1|protein_coding|CODING|NM_058179.3|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5644,0.5461,0.6352,0.64,0.54,0.69,,,,,,,,,,,,,,,,
splice_donor_variant,TLE4,protein_coding,NM_001282748.1:c.45A>G,,HIGH,COSM4164047(2),0.98762,0.998,rs1934610,,,,,TLE4:0.83(6);,chr9,82187750,82187750,A,G,hom,"splice_donor_variant(HIGH|||c.45A>G|805|TLE4|protein_coding|CODING|NM_001282748.1|1|1),splice_donor_variant(HIGH|||c.45A>G|748|TLE4|protein_coding|CODING|NM_001282749.1|1|1),splice_donor_variant(HIGH|||c.45A>G|704|TLE4|protein_coding|CODING|NM_001282753.1|1|1),splice_donor_variant(HIGH|||c.1A>G|652|TLE4|protein_coding|CODING|NM_001282760.1|1|1),splice_donor_variant(HIGH|||c.45A>G|773|TLE4|protein_coding|CODING|NM_007005.4|1|1),splice_donor_variant(HIGH|||n.1063A>G||TLE4||CODING|NR_104239.1|1|1),intron_variant(MODIFIER|||c.44+1A>G|805|TLE4|protein_coding|CODING|NM_001282748.1|1|1),intron_variant(MODIFIER|||c.44+1A>G|748|TLE4|protein_coding|CODING|NM_001282749.1|1|1),intron_variant(MODIFIER|||c.44+1A>G|704|TLE4|protein_coding|CODING|NM_001282753.1|1|1),intron_variant(MODIFIER|||c.-415+1A>G|652|TLE4|protein_coding|CODING|NM_001282760.1|1|1),intron_variant(MODIFIER|||c.44+1A>G|773|TLE4|protein_coding|CODING|NM_007005.4|1|1),intron_variant(MODIFIER|||n.1062+1A>G||TLE4||CODING|NR_104239.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HUVEC:H3K9ac,H1ESC:DNase1,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9683,0.9827,0.9851,0.98,1.00,0.97,,,,,,,,,,,,,,,,
synonymous_variant,TLE1,SILENT,NM_005077.3:p.Glu118Glu/c.354A>G,gaA/gaG,LOW,,0.907947,0.8889,rs2228173,,,,,,chr9,84267147,84267147,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu118Glu/c.354A>G|770|TLE1|protein_coding|CODING|NM_005077.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9274,0.9193,0.8817,0.91,0.91,0.91,,,,,,,,,,,,,,,,
synonymous_variant,SPATA31D1,SILENT,NM_001001670.2:p.Thr207Thr/c.621C>T,acC/acT,LOW,,,,,,,,,,chr9,84606006,84606006,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr207Thr/c.621C>T|1576|SPATA31D1|protein_coding|CODING|NM_001001670.2|4|1),IMR90:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SPATA31D1,SILENT,NM_001001670.2:p.Thr791Thr/c.2373T>A,acT/acA,LOW,,0.624201,0.7024,rs10867826,,,,,,chr9,84607758,84607758,T,A,het,synonymous_variant(LOW|SILENT|acT/acA|p.Thr791Thr/c.2373T>A|1576|SPATA31D1|protein_coding|CODING|NM_001001670.2|4|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3896,0.4294,0.4473,0.57,0.89,0.43,,,,,,,,,,,,,,,,
missense_variant,RASEF,MISSENSE,NM_152573.3:p.Arg262Cys/c.784C>T,Cgc/Tgc,MODERATE,COSM1756239(3),0.551917,0.7292,rs4146960,0.18(T),0.006(B),0(N),-0.9928(T),,chr9,85627408,85627408,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg262Cys/c.784C>T|740|RASEF|protein_coding|CODING|NM_152573.3|5|1),HUVEC:H3K27me3,,,,0.5297,0.4611,0.5089,0.51,0.50,0.51,,0.008885(N),0.000(P),0.07(T),0.0000(T),0.114,1.892430,5.16,2.98,0.603000,1.268000,1.731000,0.893000,0.963000,0.994000,11.2467
synonymous_variant,FRMD3,SILENT,NM_174938.5:p.Tyr512Tyr/c.1536T>C,taT/taC,LOW,COSM3764029(2),0.280351,0.2014,rs10114696,,,,,,chr9,85863091,85863091,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr468Tyr/c.1404T>C|553|FRMD3|protein_coding|CODING|NM_001244960.1|14|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr512Tyr/c.1536T>C|597|FRMD3|protein_coding|CODING|NM_174938.5|14|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr512Tyr/c.1536T>C|556|FRMD3|protein_coding|CODING|NM_001244959.1|14|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr318Tyr/c.954T>C|362|FRMD3|protein_coding|CODING|NM_001244961.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr169Tyr/c.507T>C|213|FRMD3|protein_coding|CODING|NM_001244962.1|2|1)","HUVEC:H3K36me3,HepG2:H3K36me3",,,,0.4356,0.2767,0.3936,0.34,0.18,0.41,,,,,,,,,,,,,,,,
synonymous_variant,UBQLN1,SILENT,NM_013438.4:p.Leu390Leu/c.1170G>T,ctG/ctT,LOW,COSM1463297(1),0.76897,0.8819,rs1044175,,,,,,chr9,86284178,86284178,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu390Leu/c.1170G>T|589|UBQLN1|protein_coding|CODING|NM_013438.4|7|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu390Leu/c.1170G>T|561|UBQLN1|protein_coding|CODING|NM_053067.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.728,0.7104,0.6203,0.70,0.83,0.63,,,0.000(P),,,.,1.148963,5.72,1.98,-0.256000,-0.141000,0.900000,0.987000,0.997000,1.000000,5.881
synonymous_variant,KIF27,SILENT,NM_017576.2:p.Ile1062Ile/c.3186T>A,atT/atA,LOW,COSM3764031(1),0.653155,0.5317,rs295274,,,,,,chr9,86468715,86468715,A,T,hom,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile996Ile/c.2988T>A|1335|KIF27|protein_coding|CODING|NM_001271927.1|14|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile965Ile/c.2895T>A|1304|KIF27|protein_coding|CODING|NM_001271928.1|13|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile1062Ile/c.3186T>A|1401|KIF27|protein_coding|CODING|NM_017576.2|15|1)",,,,,0.6462,0.4914,0.6581,0.70,0.80,0.64,,,,,,,,,,,,,,,,
missense_variant,KIF27,MISSENSE,NM_017576.2:p.Gly658Glu/c.1973G>A,gGa/gAa,MODERATE,,0.17472,0.002,rs13289566,1(T),"0.001,0.0,0.001(B,B,B)",-0.205(N),-1.0398(T),,chr9,86504005,86504005,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly658Glu/c.1973G>A|1335|KIF27|protein_coding|CODING|NM_001271927.1|7|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly658Glu/c.1973G>A|1304|KIF27|protein_coding|CODING|NM_001271928.1|7|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly658Glu/c.1973G>A|1401|KIF27|protein_coding|CODING|NM_017576.2|7|1)",,,,,0.2035,0.1657,0.2336,0.23,0.25,0.22,,0.320083(N),1.000(P),"1.07,1.07,1.07,1.07(T,T,T,T)",0.0000(T),0.012,0.565938,4.95,0.394,0.557000,0.094000,0.075000,0.951000,0.703000,0.638000,1.4027
missense_variant,SLC28A3,MISSENSE,NM_001199633.1:p.Tyr113Cys/c.338A>G,tAt/tGt,MODERATE,COSM3764035(1),0.11242,0.0823,rs10868138,0.02(D),"0.114,0.431(B,B)",2.125(M),-0.9476(T),,chr9,86917301,86917301,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr113Cys/c.338A>G|691|SLC28A3|protein_coding|CODING|NM_001199633.1|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr113Cys/c.338A>G|691|SLC28A3|protein_coding|CODING|NM_022127.2|6|1),non_coding_exon_variant(MODIFIER|||n.660A>G||SLC28A3||CODING|NR_037638.2|6|1)",,,,,0.0879,0.0663,0.0954,0.11,0.17,0.08,,0.000044(D),0.798(P),"-1.7,-1.7(D,D)",0.0017(T),0.505,2.158981,5.33,2.8,0.533000,1.000000,1.300000,0.925000,0.887000,0.999000,9.2725
synonymous_variant,SLC28A3,SILENT,NM_001199633.1:p.Thr89Thr/c.267A>G,acA/acG,LOW,COSM3764036(1),0.563698,0.6002,rs386613708,,,,,,chr9,86920236,86920236,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr89Thr/c.267A>G|691|SLC28A3|protein_coding|CODING|NM_001199633.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr89Thr/c.267A>G|691|SLC28A3|protein_coding|CODING|NM_022127.2|5|1),non_coding_exon_variant(MODIFIER|||n.589A>G||SLC28A3||CODING|NR_037638.2|5|1)",HepG2:H3K27me3,,,,0.3896,0.5764,0.3211,0.45,0.72,0.30,,,,,,,,,,,,,,,,
synonymous_variant,AGTPBP1,SILENT,NM_001286715.1:p.Ala45Ala/c.135T>C,gcT/gcC,LOW,,0.430312,0.7599,rs10114347,,,,,,chr9,88356743,88356743,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala45Ala/c.135T>C|1278|AGTPBP1|protein_coding|CODING|NM_001286715.1|1|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala45Ala/c.135T>C|1238|AGTPBP1|protein_coding|CODING|NM_001286717.1|1|1),5_prime_UTR_variant(MODIFIER||29295|c.-87T>C|1186|AGTPBP1|protein_coding|CODING|NM_015239.2|1|1)","NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.3067,0.2579,0.163,,,,,,,,,,,,,,,,,,,
synonymous_variant,GOLM1,SILENT,NM_016548.3:p.Gln100Gln/c.300G>A,caG/caA,LOW,COSM3764037(1),0.126797,0.4831,rs3750390,,,,,,chr9,88692336,88692336,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln100Gln/c.300G>A|401|GOLM1|protein_coding|CODING|NM_016548.3|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln100Gln/c.300G>A|401|GOLM1|protein_coding|CODING|NM_177937.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.1125,0.0375,0.0089,0.01,0.01,0.01,,,,,,,,,,,,,,,,
synonymous_variant,GOLM1,SILENT,NM_016548.3:p.Ala19Ala/c.57C>A,gcC/gcA,LOW,COSM3764038(1),0.297923,0.5615,rs3750389,,,,,,chr9,88694179,88694179,G,T,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala19Ala/c.57C>A|401|GOLM1|protein_coding|CODING|NM_016548.3|2|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala19Ala/c.57C>A|401|GOLM1|protein_coding|CODING|NM_177937.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.2382,0.1484,0.0934,0.18,0.34,0.10,,,,,,,,,,,,,,,,
synonymous_variant,ZCCHC6,SILENT,NM_001185059.1:p.Leu317Leu/c.951G>A,ctG/ctA,LOW,COSM1463436(3),0.619409,0.5308,rs791323,,,,,,chr9,88959938,88959938,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu317Leu/c.951G>A|1495|ZCCHC6|protein_coding|CODING|NM_001185059.1|5|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu317Leu/c.951G>A|1259|ZCCHC6|protein_coding|CODING|NM_001185074.1|5|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu317Leu/c.951G>A|1495|ZCCHC6|protein_coding|CODING|NM_024617.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5736,0.5288,0.5447,0.62,0.78,0.54,,,,,,,,,,,,,,,,
synonymous_variant,DAPK1,SILENT,NM_001288729.1:p.Gln38Gln/c.114G>A,caG/caA,LOW,,0.0864617,0,rs36207428,,,,,,chr9,90219920,90219920,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln38Gln/c.114G>A|1430|DAPK1|protein_coding|CODING|NM_001288729.1|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln38Gln/c.114G>A|1430|DAPK1|protein_coding|CODING|NM_001288730.1|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln38Gln/c.114G>A|1430|DAPK1|protein_coding|CODING|NM_001288731.1|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln38Gln/c.114G>A|1430|DAPK1|protein_coding|CODING|NM_004938.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0358,0.0461,0.0656,0.09,0.17,0.05,,,,,,,,,,,,,,,,
synonymous_variant,DAPK1,SILENT,NM_001288729.1:p.Asp536Asp/c.1608C>T,gaC/gaT,LOW,COSM1636274(2),0.354034,0.5784,rs3818584,,,,,,chr9,90265015,90265015,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp536Asp/c.1608C>T|1430|DAPK1|protein_coding|CODING|NM_001288729.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp536Asp/c.1608C>T|1430|DAPK1|protein_coding|CODING|NM_001288730.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp536Asp/c.1608C>T|1430|DAPK1|protein_coding|CODING|NM_001288731.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp536Asp/c.1608C>T|1430|DAPK1|protein_coding|CODING|NM_004938.3|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2781,0.5432,0.3748,0.31,0.15,0.38,,,,,,,,,,,,,,,,
synonymous_variant,DAPK1,SILENT,NM_001288729.1:p.Arg1199Arg/c.3597C>T,cgC/cgT,LOW,COSM3764042(2),0.356629,0.4107,rs3118863,,,,,,chr9,90321583,90321583,C,T,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1199Arg/c.3597C>T|1430|DAPK1|protein_coding|CODING|NM_001288729.1|26|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1199Arg/c.3597C>T|1430|DAPK1|protein_coding|CODING|NM_001288730.1|26|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1199Arg/c.3597C>T|1430|DAPK1|protein_coding|CODING|NM_001288731.1|26|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1199Arg/c.3597C>T|1430|DAPK1|protein_coding|CODING|NM_004938.3|26|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.402,0.4553,0.36,0.18,0.45,,,,,,,,,,,,,,,,
missense_variant,DAPK1,MISSENSE,NM_001288729.1:p.Ser1346Asn/c.4037G>A,aGt/aAt,MODERATE,COSM4164073(2),0.65595,0.8323,rs1056719,0.6(T),"0.0,0.0,0.0(B,B,B)",-0.37(N),-0.9425(T),,chr9,90322023,90322023,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1346Asn/c.4037G>A|1430|DAPK1|protein_coding|CODING|NM_001288729.1|26|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1346Asn/c.4037G>A|1430|DAPK1|protein_coding|CODING|NM_001288730.1|26|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1346Asn/c.4037G>A|1430|DAPK1|protein_coding|CODING|NM_001288731.1|26|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1346Asn/c.4037G>A|1430|DAPK1|protein_coding|CODING|NM_004938.3|26|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8119,0.6974,0.6372,0.59,0.46,0.65,,0.026082(N),1.000(P),"-1.98,-1.98,-1.98,-1.98,-1.98(D,D,D,D,D)",0.0000(T),0.009,-2.140561,5.45,-2.04,-0.972000,-0.509000,0.776000,0.001000,0.003000,0.240000,12.6085
missense_variant,SPATA31E1,MISSENSE,NM_178828.4:p.Thr335Pro/c.1003A>C,Acc/Ccc,MODERATE,,0.761781,0.878,rs7850542,1(T),0.0(B),-2.195(N),-1.0086(T),,chr9,90500405,90500405,A,C,het,missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr335Pro/c.1003A>C|1445|SPATA31E1|protein_coding|CODING|NM_178828.4|4|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.6166,0.7205,0.5686,0.66,0.88,0.54,,0.924180(N),1.000(P),4.1(T),0.0000(T),0.039,-1.795530,2.72,0.534,-0.224000,0.071000,-0.432000,0.001000,0.001000,0.000000,3.2309
missense_variant,SPATA31E1,MISSENSE,NM_178828.4:p.Asp682Glu/c.2046C>A,gaC/gaA,MODERATE,,0.760783,0.877,rs386590774,1(T),"0.0,0.0(B,B)",-0.345(N),-0.9950(T),,chr9,90501448,90501448,C,A,het,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp682Glu/c.2046C>A|1445|SPATA31E1|protein_coding|CODING|NM_178828.4|4|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.6155,0.719,0.5666,0.65,0.88,0.54,,0.001682(N),1.000(P),3.37(T),0.0000(T),0.001,-1.902883,2.43,-4.86,-1.398000,-2.299000,-2.165000,0.000000,0.000000,0.000000,5.9254
missense_variant,SPATA31E1,MISSENSE,NM_178828.4:p.Val1019Glu/c.3056T>A,gTg/gAg,MODERATE,COSM4164086(1),0.761781,0.88,rs10868670,1(T),0.0(B),-0.695(N),-1.0208(T),,chr9,90502458,90502458,T,A,het,missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val1019Glu/c.3056T>A|1445|SPATA31E1|protein_coding|CODING|NM_178828.4|4|1),HepG2:H3K27me3,,,,0.6155,0.7205,0.5666,0.66,0.88,0.54,,,1.000(P),4.07(T),0.0000(T),0.035,-1.486716,3.3,2.16,-0.375000,0.189000,-0.014000,0.035000,0.000000,0.001000,2.7404
synonymous_variant,SPATA31E1,SILENT,NM_178828.4:p.Thr1139Thr/c.3417T>C,acT/acC,LOW,,0.575879,0.5556,rs10868671,,,,,,chr9,90502819,90502819,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr1139Thr/c.3417T>C|1445|SPATA31E1|protein_coding|CODING|NM_178828.4|4|1),HepG2:H3K27me3,,,,0.5419,0.5533,0.5328,0.54,0.62,0.50,,,,,,,,,,,,,,,,
missense_variant,SPATA31E1,MISSENSE,NM_178828.4:p.Asp1202Gly/c.3605A>G,gAc/gGc,MODERATE,COSM456205(4),0.459864,0.3363,rs11789780,0.37(T),0.83(P),1.24(L),-0.9223(T),,chr9,90503007,90503007,A,G,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp1202Gly/c.3605A>G|1445|SPATA31E1|protein_coding|CODING|NM_178828.4|4|1),HepG2:H3K27me3,,,,0.4918,0.4049,0.5169,0.48,0.48,0.48,,0.347788(N),1.000(P),3.81(T),0.0000(T),0.085,1.581690,2.71,1.51,0.533000,0.429000,1.304000,0.004000,0.002000,0.001000,5.7461
missense_variant,SPATA31E1,MISSENSE,NM_178828.4:p.Arg1350His/c.4049G>A,cGc/cAc,MODERATE,,0.460064,0.3373,rs11142017,0.14(T),0.0(B),-0.895(N),-0.9359(T),,chr9,90503451,90503451,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1350His/c.4049G>A|1445|SPATA31E1|protein_coding|CODING|NM_178828.4|4|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.4918,0.4049,0.5179,0.49,0.50,0.49,,0.077687(N),1.000(P),3.83(T),0.0000(T),0.018,0.626610,2.47,1.25,-0.254000,-0.023000,0.117000,0.001000,0.001000,0.000000,2.9167
synonymous_variant,CDK20,SILENT,NM_001039803.2:p.Glu41Glu/c.123G>A,gaG/gaA,LOW,,0.670327,0.3095,rs665983,,,,,,chr9,90588903,90588903,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu41Glu/c.123G>A|346|CDK20|protein_coding|CODING|NM_001039803.2|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu41Glu/c.123G>A|275|CDK20|protein_coding|CODING|NM_001170639.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu41Glu/c.123G>A|243|CDK20|protein_coding|CODING|NM_001170640.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu41Glu/c.123G>A|325|CDK20|protein_coding|CODING|NM_012119.4|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu54Glu/c.162G>A|338|CDK20|protein_coding|CODING|NM_178432.3|2|1)","NHEK:H3K4me3,CD4:H4K91ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NHEK:H3K4me2,HSMM:H3K4me3,HMEC:H3K4me3",,,,0.8252,0.6931,0.9006,0.82,0.66,0.91,,,,,,,,,,,,,,,,
missense_variant,SPATA31C2,MISSENSE,NM_001166137.1:p.Ile1006Val/c.3016A>G,Ata/Gta,MODERATE,,,,rs200880066,,,,,,chr9,90744936,90744936,T,C,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1006Val/c.3016A>G|1134|SPATA31C2|protein_coding|CODING|NM_001166137.1|4|1),"HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,C9orf47,SILENT,NM_001001938.3:p.Ser128Ser/c.384T>A,tcT/tcA,LOW,COSM3750182(3),0.0203674,0,rs11795137,,,,,,chr9,91606522,91606522,T,A,het,"synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser128Ser/c.384T>A|202|C9orf47|protein_coding|CODING|NM_001001938.3|2|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser109Ser/c.327T>A|183|C9orf47|protein_coding|CODING|NM_001142413.1|2|1),5_prime_UTR_variant(MODIFIER||9594|c.-236T>A|378|S1PR3|protein_coding|CODING|NM_005226.3|1|1)","K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HMEC:CTCF,HeLa-S3:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0041,0.0403,0.0537,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,SECISBP2,MISSENSE,NM_024077.4:p.Gln428Glu/c.1282C>G,Caa/Gaa,MODERATE,,0.0179712,0,rs45452691,1(T),"0.078,0.163,0.057(B,B,B)",1.61(L),-0.9126(T),,chr9,91954848,91954848,C,G,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln427Glu/c.1279C>G|853|SECISBP2|protein_coding|CODING|NM_001282688.1|9|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln355Glu/c.1063C>G|781|SECISBP2|protein_coding|CODING|NM_001282689.1|9|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln360Glu/c.1078C>G|786|SECISBP2|protein_coding|CODING|NM_001282690.1|9|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln428Glu/c.1282C>G|854|SECISBP2|protein_coding|CODING|NM_024077.4|9|1)","H1ESC:H3K36me3,GM12878:BATF,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.0133,0.0202,0.0596,0.04,0.01,0.06,,0.618701(N),0.999(N),"-0.68,-0.7,-0.69,0.94(T,T,T,T)",0.0318(T),0.116,2.248565,4.64,3.73,0.655000,2.583000,-0.422000,0.944000,0.714000,0.384000,6.3816
missense_variant,SEMA4D,MISSENSE,NM_006378.3:p.Ala327Thr/c.979G>A,Gcc/Acc,MODERATE,,0.22524,0.3294,rs11526468,0.15(T),"0.871,0.98(P,D)",3.595(H),-0.9852(T),,chr9,92003679,92003679,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala327Thr/c.979G>A|738|SEMA4D|protein_coding|CODING|NM_001142287.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala327Thr/c.979G>A|862|SEMA4D|protein_coding|CODING|NM_006378.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,GM12878:PolII,GM06990:H3K36me3",,,,0.2812,0.2723,0.3072,0.21,0.06,0.29,,0.000000(D),0.000(P),"2.52,2.52,2.52,2.52,2.52,2.52,2.52,2.52(T,T,T,T,T,T,T,T)",0.0000(T),0.554,4.678510,4.96,4.03,0.561000,1.250000,5.521000,0.882000,0.985000,1.000000,14.4731
synonymous_variant,AUH,SILENT,NM_001698.2:p.Ile161Ile/c.483A>C,atA/atC,LOW,COSM3764058(1),0.0894569,0.0149,rs7874056,,,,,,chr9,94087622,94087622,T,G,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile161Ile/c.483A>C|339|AUH|protein_coding|CODING|NM_001698.2|4|1),"K562:H3K36me3,HepG2:H3K36me3",,RCV000116490.2,,0.0327,0.085,0.0964,0.13,0.18,0.10,,,,,,,,,,,,,,,,
missense_variant,ROR2,MISSENSE,NM_004560.3:p.Val819Ile/c.2455G>A,Gtc/Atc,MODERATE,,0.748003,0.9137,rs10761129,1(T),0.0(B),-1.04(N),-0.9389(T),,chr9,94486321,94486321,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val819Ile/c.2455G>A|943|ROR2|protein_coding|CODING|NM_004560.3|9|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.5818,0.7723,0.6879,0.70,0.76,0.67,,0.000696(N),0.000(P),-0.94(T),0.0000(T),0.039,-1.385455,4.52,3.39,-1.677000,0.273000,4.807000,0.407000,1.000000,1.000000,8.9652
synonymous_variant,ROR2,SILENT,NM_004560.3:p.Tyr696Tyr/c.2088C>T,taC/taT,LOW,COSM3764059(2),0.415335,0.4246,rs10992063,,,,,,chr9,94486688,94486688,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr696Tyr/c.2088C>T|943|ROR2|protein_coding|CODING|NM_004560.3|9|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.2791,0.5331,0.4215,0.43,0.43,0.43,,,,,,,,,,,,,,,,
missense_variant,ROR2,MISSENSE,NM_004560.3:p.Thr245Ala/c.733A>G,Aca/Gca,MODERATE,COSM1569878(3),0.644968,0.5268,rs10820900,1(T),"0.001,0.004(B,B)",0.425(N),-0.9254(T),,chr9,94495608,94495608,T,C,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr245Ala/c.733A>G|943|ROR2|protein_coding|CODING|NM_004560.3|6|1),"K562:H3K36me3,IMR90:H3K36me3",,,,0.6902,0.5159,0.659,0.68,0.74,0.65,,0.024971(N),1.000(P),"-0.89,-0.89(T,T)",0.0000(T),0.037,0.334936,4.44,3.45,-0.215000,1.109000,0.861000,0.714000,0.998000,0.000000,4.1846
synonymous_variant,ASPN,SILENT,NM_017680.4:p.Ser372Ser/c.1116C>T,agC/agT,LOW,,0.991014,1,rs4744132,,,,,,chr9,95219597,95219597,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser372Ser/c.1116C>T|380|ASPN|protein_coding|CODING|NM_017680.4|8|1),3_prime_UTR_variant(MODIFIER||151|c.*151C>T|243|ASPN|protein_coding|CODING|NM_001193335.1|6|1),intron_variant(MODIFIER|||c.564+77456G>A|288|CENPP|protein_coding|CODING|NM_001012267.2|5|1),intron_variant(MODIFIER|||c.228+77456G>A|176|CENPP|protein_coding|CODING|NM_001286969.1|4|1)",,,,,0.9714,0.9942,0.9871,0.99,1.00,0.98,,,,,,,,,,,,,,,,
missense_variant,BICD2,MISSENSE,NM_001003800.1:p.Gln494Arg/c.1481A>G,cAg/cGg,MODERATE,,,,rs142985475,0.17(T),"0.07,0.115(B,B)",0.625(N),-1.0469(T),,chr9,95481446,95481446,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln494Arg/c.1481A>G|855|BICD2|protein_coding|CODING|NM_001003800.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln494Arg/c.1481A>G|824|BICD2|protein_coding|CODING|NM_015250.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.268278(N),0.996(N),"0.93,0.93(T,T)",0.0742(T),0.162,2.454920,5.39,4.18,0.459000,2.185000,2.118000,0.942000,1.000000,1.000000,8.8817
synonymous_variant,FGD3,SILENT,NM_001083536.1:p.Pro81Pro/c.243C>A,ccC/ccA,LOW,COSM4007299(3),0.598043,0.5079,rs3802381,,,,,,chr9,95738781,95738781,C,A,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro81Pro/c.243C>A|725|FGD3|protein_coding|CODING|NM_001083536.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro81Pro/c.243C>A|724|FGD3|protein_coding|CODING|NM_001286993.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro81Pro/c.243C>A|725|FGD3|protein_coding|CODING|NM_033086.2|3|1)","GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,K562:H3K27me3,GM06990:H3K36me3",,,,0.684,0.6239,0.6064,0.60,0.61,0.60,,,,,,,,,,,,,,,,
synonymous_variant,FGD3,SILENT,NM_001083536.1:p.Thr441Thr/c.1323A>G,acA/acG,LOW,,0.998802,1,rs7048975,,,,,,chr9,95780465,95780465,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr441Thr/c.1323A>G|725|FGD3|protein_coding|CODING|NM_001083536.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr441Thr/c.1323A>G|724|FGD3|protein_coding|CODING|NM_001286993.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr441Thr/c.1323A>G|725|FGD3|protein_coding|CODING|NM_033086.2|11|1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,1,1,0.995,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SUSD3,SILENT,NM_145006.3:p.Thr31Thr/c.93G>C,acG/acC,LOW,COSM4164097(1),0.256989,0.2163,rs1131768,,,,,,chr9,95838070,95838070,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr18Thr/c.54G>C|242|SUSD3|protein_coding|CODING|NM_001287005.1|3|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr31Thr/c.93G>C|211|SUSD3|protein_coding|CODING|NM_001287006.1|2|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr31Thr/c.93G>C|255|SUSD3|protein_coding|CODING|NM_145006.3|2|1),intron_variant(MODIFIER|||c.89-2058G>C|148|SUSD3|protein_coding|CODING|NM_001287007.1|1|1),intron_variant(MODIFIER|||c.89-2058G>C|192|SUSD3|protein_coding|CODING|NM_001287008.1|1|1)","GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,GM06990:H3K36me3",,,,0.273,0.1297,0.1382,0.23,0.38,0.15,,,,,,,,,,,,,,,,
missense_variant,SUSD3,MISSENSE,NM_145006.3:p.Lys136Glu/c.406A>G,Aag/Gag,MODERATE,,0.278554,0.2103,rs1131773,1(T),"0.0,0.0(B,B)",-1.7(N),-0.9255(T),,chr9,95840256,95840256,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys123Glu/c.367A>G|242|SUSD3|protein_coding|CODING|NM_001287005.1|4|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys136Glu/c.406A>G|211|SUSD3|protein_coding|CODING|NM_001287006.1|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys73Glu/c.217A>G|148|SUSD3|protein_coding|CODING|NM_001287007.1|2|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys73Glu/c.217A>G|192|SUSD3|protein_coding|CODING|NM_001287008.1|2|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys136Glu/c.406A>G|255|SUSD3|protein_coding|CODING|NM_145006.3|3|1)","GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,GM06990:H3K36me3",,,,0.3252,0.1225,0.1362,0.24,0.43,0.14,,0.000623(N),1.000(P),"0.46,0.87(T,T)",0.0000(T),0.033,-0.677664,5.16,4.27,-0.215000,0.860000,2.425000,0.007000,0.148000,0.995000,10.5045
synonymous_variant,C9orf89,SILENT,NM_032310.3:p.Leu62Leu/c.186C>T,ctC/ctT,LOW,COSM1180463(2),0.0595048,0.002,rs17593496,,,,,,chr9,95872885,95872885,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu62Leu/c.186C>T|183|C9orf89|protein_coding|CODING|NM_032310.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.045,0.062,0.161,0.11,0.05,0.15,,,,,,,,,,,,,,,,
missense_variant,NINJ1,MISSENSE,NM_004148.3:p.Ala110Asp/c.329C>A,gCc/gAc,MODERATE,,0.789137,0.874,rs2275848,0.54(T),0.799(P),1.15(L),-1.0302(T),,chr9,95887320,95887320,G,T,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala110Asp/c.329C>A|152|NINJ1|protein_coding|CODING|NM_004148.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Obesity_early_onset_extreme,,,0.8395,0.8775,0.8101,0.77,0.68,0.81,,0.000080(D),0.001(P),0.97(T),0.0000(T),0.059,2.785166,4.43,2.51,-0.310000,0.571000,1.597000,0.925000,0.764000,0.999000,12.0904
synonymous_variant,WNK2,SILENT,NM_001282394.1:p.Asp642Asp/c.1926C>T,gaC/gaT,LOW,,0.316094,0.4345,rs4744201,,,,-0.9653(T),,chr9,96015256,96015256,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp642Asp/c.1926C>T|2297|WNK2|protein_coding|CODING|NM_001282394.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp642Asp/c.1926C>T|2217|WNK2|protein_coding|CODING|NM_006648.3|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.2393,0.5115,0.4712,0.37,0.14,0.49,,,0.946(P),,0.0000(T),.,-1.295186,4.68,-3.95,-1.020000,-0.624000,-2.814000,0.009000,0.001000,0.000000,12.8604
missense_variant,WNK2,MISSENSE,NM_001282394.1:p.Val828Met/c.2482G>A,Gtg/Atg,MODERATE,COSM4164110(2),0.313498,0.4345,rs10761203,,,0.895(L),-0.9154(T),,chr9,96021312,96021312,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val828Met/c.2482G>A|2297|WNK2|protein_coding|CODING|NM_001282394.1|11|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val828Met/c.2482G>A|2217|WNK2|protein_coding|CODING|NM_006648.3|11|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.2362,0.5058,0.4573,0.37,0.15,0.48,,,0.998(P),,0.0000(T),.,1.262253,5.11,2.9,0.462000,1.143000,1.047000,0.126000,0.668000,0.530000,3.5811
synonymous_variant,WNK2,SILENT,NM_001282394.1:p.Gln1532Gln/c.4596A>G,caA/caG,LOW,COSM3750189(12),0.920527,0.999,rs2169756,,,,-1.0298(T),,chr9,96051521,96051521,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1532Gln/c.4596A>G|2297|WNK2|protein_coding|CODING|NM_001282394.1|20|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln1495Gln/c.4485A>G|2217|WNK2|protein_coding|CODING|NM_006648.3|19|1)","H1ESC:H3K36me3,GM06990:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.9652,0.9669,0.9573,0.91,0.82,0.95,,,0.999(P),,0.0000(T),.,0.070980,4.77,0.663,-0.355000,-0.120000,-0.177000,0.023000,0.267000,0.026000,1.9353
missense_variant,C9orf129,MISSENSE,NM_001098808.1:p.Gly92Ser/c.274G>A,Ggc/Agc,MODERATE,COSM4164135(1),0.630591,0.63,rs78436873,0(D),0.996(D),0.975(L),-1.0518(T),,chr9,96097747,96097747,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly92Ser/c.274G>A|196|C9orf129|protein_coding|CODING|NM_001098808.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3722,0.8573,0.7803,,,,,,0.031(P),0.83(T),0.0000(T),0.449,4.062626,2.56,2.56,0.298000,1.438000,4.200000,0.945000,0.769000,0.998000,13.5524
missense_variant,FAM120AOS,MISSENSE,NM_198841.2:p.Ser211Asn/c.632G>A,aGc/aAc,MODERATE,,0.0239617,0.0248,rs41274386,0(D),0.277(B),0(N),-1.0802(T),,chr9,96212813,96212813,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser211Asn/c.632G>A|256|FAM120AOS|protein_coding|CODING|NM_198841.2|2|1),upstream_gene_variant(MODIFIER||1165||1117|FAM120A|protein_coding|CODING|NM_001286722.1||1),upstream_gene_variant(MODIFIER||1165||651|FAM120A|protein_coding|CODING|NM_001286723.1||1),upstream_gene_variant(MODIFIER||1165||628|FAM120A|protein_coding|CODING|NM_001286724.1||1),upstream_gene_variant(MODIFIER||1165||1118|FAM120A|protein_coding|CODING|NM_014612.4||1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K4me2,HUVEC:H3K9ac,GM12878:H3K79me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.0174,0.0303,0.0487,0.05,0.02,0.07,,,1.000(N),"0.44,1.16,0.39(T,T,T)",0.0083(T),0.073,1.015339,2.61,1.69,-0.268000,0.661000,-0.248000,0.008000,0.013000,0.005000,6.7908
synonymous_variant,FAM120A,SILENT,NM_014612.4:p.His254His/c.762C>T,caC/caT,LOW,COSM3982981(1),0.524561,0.5972,rs10821135,,,,-0.9592(T),,chr9,96238578,96238578,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His254His/c.762C>T|1117|FAM120A|protein_coding|CODING|NM_001286722.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His254His/c.762C>T|651|FAM120A|protein_coding|CODING|NM_001286723.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His254His/c.762C>T|628|FAM120A|protein_coding|CODING|NM_001286724.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His254His/c.762C>T|1118|FAM120A|protein_coding|CODING|NM_014612.4|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2372,0.5591,0.498,0.55,0.66,0.49,,,0.000(P),,0.0000(T),.,1.092407,5.52,-1.38,-0.360000,-0.707000,1.012000,0.993000,0.968000,1.000000,11.9011
synonymous_variant,PHF2,SILENT,NM_005392.3:p.Asp103Asp/c.309C>T,gaC/gaT,LOW,COSM4007303(2),0.0515176,0.0694,rs7038310,,,,,,chr9,96407920,96407920,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp103Asp/c.309C>T|1096|PHF2|protein_coding|CODING|NM_005392.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0368,0.0461,0.0656,0.07,0.05,0.08,,,,,,,,,,,,,,,,
synonymous_variant,PHF2,SILENT,NM_005392.3:p.Lys755Lys/c.2265G>A,aaG/aaA,LOW,,0.0127796,0,rs41297181,,,,,,chr9,96429439,96429439,G,A,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys755Lys/c.2265G>A|1096|PHF2|protein_coding|CODING|NM_005392.3|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0173,0.0477,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,FBP2,MISSENSE,NM_003837.3:p.Val86Leu/c.256G>C,Gtc/Ctc,MODERATE,,0.864816,0.8125,rs573212,1(T),0.001(B),-2.865(N),-0.9133(T),,chr9,97349666,97349666,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val86Leu/c.256G>C|339|FBP2|protein_coding|CODING|NM_003837.3|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8384,0.8127,0.8827,0.89,0.92,0.87,,0.000000(N),0.864(P),0.31(T),0.0000(T),0.11,1.065974,5.82,5.82,-0.120000,1.481000,5.465000,0.628000,1.000000,1.000000,17.1633
synonymous_variant,FBP1,SILENT,NM_000507.3:p.Gly320Gly/c.960A>G,ggA/ggG,LOW,COSM3774392(1),0.907149,0.9563,rs1769257,,,,,,chr9,97365720,97365720,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly320Gly/c.960A>G|338|FBP1|protein_coding|CODING|NM_000507.3|7|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly320Gly/c.960A>G|338|FBP1|protein_coding|CODING|NM_001127628.1|8|1)","NHEK:CTCF,HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,HeLa-S3:Max,CD4:DNase1,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HMEC:CTCF,K562:H3K27me3,NH-A:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.8037,0.9222,0.8489,0.89,0.96,0.85,,,,,,,,,,,,,,,,
missense_variant,FBP1,MISSENSE,NM_000507.3:p.Arg218Lys/c.653G>A,aGg/aAg,MODERATE,,0.976438,1,rs1769259,1(T),0.001(B),-0.3(N),-0.9434(T),,chr9,97369149,97369149,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg218Lys/c.653G>A|338|FBP1|protein_coding|CODING|NM_000507.3|5|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg218Lys/c.653G>A|338|FBP1|protein_coding|CODING|NM_001127628.1|6|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.9479,0.9856,0.9553,0.95,0.98,0.94,,0.002351(N),1.000(P),"-0.76,-0.76,-0.76(T,T,T)",0.0000(T),0.04,0.308428,5.49,1.55,-0.254000,0.384000,0.098000,0.981000,1.000000,0.971000,6.0449
synonymous_variant,FBP1,SILENT,NM_000507.3:p.Ala217Ala/c.651C>T,gcC/gcT,LOW,COSM3764079(2),0.352436,0.5496,rs1042144,,,,,,chr9,97369151,97369151,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala217Ala/c.651C>T|338|FBP1|protein_coding|CODING|NM_000507.3|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala217Ala/c.651C>T|338|FBP1|protein_coding|CODING|NM_001127628.1|6|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3661,0.2046,0.3499,0.31,0.28,0.33,,,,,,,,,,,,,,,,
missense_variant,FBP1,MISSENSE,NM_000507.3:p.Thr92Met/c.275C>T,aCg/aTg,MODERATE,,0.000199681,0,rs141270413,0.06(T),0.984(D),2.71(M),0.1698(D),,chr9,97382669,97382669,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr92Met/c.275C>T|338|FBP1|protein_coding|CODING|NM_000507.3|2|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr92Met/c.275C>T|338|FBP1|protein_coding|CODING|NM_001127628.1|3|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0,0.0014,0,0.00,0.00,0.00,,0.000000(D),1.000(D),"-0.66,-0.66,-0.66(T,T,T)",0.5966(D),0.706,5.050973,6.03,6.03,0.655000,2.861000,9.869000,0.889000,1.000000,1.000000,20.5568
missense_variant,PTCH1,MISSENSE,NM_000264.3:p.Pro1315Leu/c.3944C>T,cCc/cTc,MODERATE,COSM1638395(3),0.396765,0.5863,rs357564,0.22(T),"0.646,0.714,0.444(P,P,B)",1.935(M),-1.0000(T),,chr9,98209594,98209594,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1315Leu/c.3944C>T|1447|PTCH1|protein_coding|CODING|NM_000264.3|23|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1249Leu/c.3746C>T|1381|PTCH1|protein_coding|CODING|NM_001083602.1|23|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1314Leu/c.3941C>T|1446|PTCH1|protein_coding|CODING|NM_001083603.1|23|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1164Leu/c.3491C>T|1296|PTCH1|protein_coding|CODING|NM_001083604.1|23|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1164Leu/c.3491C>T|1296|PTCH1|protein_coding|CODING|NM_001083605.1|23|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1164Leu/c.3491C>T|1296|PTCH1|protein_coding|CODING|NM_001083606.1|23|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1164Leu/c.3491C>T|1296|PTCH1|protein_coding|CODING|NM_001083607.1|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000034575.1|RCV000078463.2,,0.4714,0.4063,0.3529,0.30,0.24,0.33,,0.000001(D),0.000(P),"-2.76,-2.74,-2.73,-2.73,-2.74,-2.73,-2.77(D,D,D,D,D,D,D)",0.0000(T),0.353,4.715015,4.83,4.83,0.655000,2.506000,9.405000,0.953000,1.000000,1.000000,18.1026
start_lost,ERCC6L2,MISSENSE,NM_020207.4:p.Met1?/c.1A>G,Atg/Gtg,HIGH,COSM456305(4),0.252396,0.3423,rs690528,0(D),0.0(B),,-1.0846(T),ERCC6L2:1.00(2);,chr9,98638288,98638288,A,G,het,"start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|712|ERCC6L2|protein_coding|CODING|NM_001010895.2|1|1),start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|1561|ERCC6L2|protein_coding|CODING|NM_020207.4|1|1),upstream_gene_variant(MODIFIER||29|||LINC00476||NON_CODING|NR_023389.1||1),upstream_gene_variant(MODIFIER||29|||LINC00476||NON_CODING|NR_023390.1||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,IMR90:H4K5ac,HUVEC:H3K9ac,GM12878:MEF2C,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,HMEC:H3K4me2,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,K562:H2AZ,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,HeLa-S3:E2F6",,,,0.2781,0.2896,0.3082,0.24,0.13,0.30,,,1.000(P),-2.46(D),0.0000(T),0.025,-1.460743,3.26,-3.74,-1.988000,-1.326000,-0.059000,0.000000,0.000000,0.000000,6.0461
missense_variant,NUTM2G,MISSENSE,NM_001170741.1:p.Glu374Asp/c.1122G>C,gaG/gaC,MODERATE,COSM3982989(1),0.110224,0.0913,rs7866127,0.01(D),0.994(D),2.325(M),-1.0894(T),,chr9,99699485,99699485,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu374Asp/c.1122G>C|492|NUTM2G|protein_coding|CODING|NM_001045477.2|5|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu374Asp/c.1122G>C|741|NUTM2G|protein_coding|CODING|NM_001170741.1|5|1)","GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1687,0.2147,0.1352,0.09,0.03,0.11,,0.054494(N),1.000(P),"0.56,1.15(T,T)",0.0002(T),0.096,1.701614,1.33,0.238,0.473000,0.105000,0.621000,0.027000,0.070000,1.000000,5.095
missense_variant,NUTM2G,MISSENSE,NM_001170741.1:p.Pro457Ser/c.1369C>T,Cca/Tca,MODERATE,,0.0111821,0,rs202040012,0.04(D),0.688(P),1.93(M),-1.0792(T),,chr9,99700212,99700212,C,T,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro457Ser/c.1369C>T|492|NUTM2G|protein_coding|CODING|NM_001045477.2|6|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro457Ser/c.1369C>T|741|NUTM2G|protein_coding|CODING|NM_001170741.1|6|1)","GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0115,0.0427,0.02,0.01,0.03,,0.286692(N),1.000(N),"1.87,2.68(T,T)",0.0262(T),0.07,2.204886,1.01,-1.74,0.473000,-0.528000,-1.139000,0.656000,0.014000,0.002000,2.4279
synonymous_variant,CCDC180,SILENT,NM_020893.2:p.Arg78Arg/c.234G>A,agG/agA,LOW,,0.272564,0.2887,rs3747507,,,,,,chr9,100071728,100071728,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg78Arg/c.234G>A|1701|CCDC180|protein_coding|CODING|NM_020893.2|3|1),non_coding_exon_variant(MODIFIER|||n.1657G>A||LOC100499484-C9ORF174||NON_CODING|NR_036527.1|17|1),non_coding_exon_variant(MODIFIER|||n.1657G>A||LOC100499484-C9ORF174||NON_CODING|NR_036528.1|17|1),non_coding_exon_variant(MODIFIER|||n.1346G>A||LOC100499484-C9ORF174||NON_CODING|NR_036529.1|15|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.2607,0.3501,0.1839,0.21,0.27,0.18,,,,,,,,,,,,,,,,
synonymous_variant,CCDC180,SILENT,NM_020893.2:p.Ile148Ile/c.444C>T,atC/atT,LOW,COSM150641(1),0.275559,0.2907,rs3747504,,,,,,chr9,100074446,100074446,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile148Ile/c.444C>T|1701|CCDC180|protein_coding|CODING|NM_020893.2|4|1),non_coding_exon_variant(MODIFIER|||n.1867C>T||LOC100499484-C9ORF174||NON_CODING|NR_036527.1|18|1),non_coding_exon_variant(MODIFIER|||n.1867C>T||LOC100499484-C9ORF174||NON_CODING|NR_036528.1|18|1),non_coding_exon_variant(MODIFIER|||n.1556C>T||LOC100499484-C9ORF174||NON_CODING|NR_036529.1|16|1)","HepG2:H3K36me3,HepG2:H3K27me3",,,,0.2679,0.353,0.1869,0.21,0.27,0.19,,,,,,,,,,,,,,,,
synonymous_variant,CCDC180,SILENT,NM_020893.2:p.Ser516Ser/c.1548A>G,tcA/tcG,LOW,COSM150642(1),0.598043,0.5843,rs3747496,0.52(T),,,-1.0111(T),,chr9,100087345,100087345,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser516Ser/c.1548A>G|1701|CCDC180|protein_coding|CODING|NM_020893.2|14|1),non_coding_exon_variant(MODIFIER|||n.2971A>G||LOC100499484-C9ORF174||NON_CODING|NR_036527.1|28|1),non_coding_exon_variant(MODIFIER|||n.2971A>G||LOC100499484-C9ORF174||NON_CODING|NR_036528.1|28|1),non_coding_exon_variant(MODIFIER|||n.2531A>G||LOC100499484-C9ORF174||NON_CODING|NR_036529.1|25|1)","H1ESC:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3",,,,0.5542,0.6671,0.3956,0.55,0.73,0.46,,,1.000(P),1.86(T),0.0000(T),.,-0.367181,5.39,-10.3,-2.236000,-2.480000,-0.804000,0.000000,0.000000,0.000000,6.5357
synonymous_variant,CCDC180,SILENT,NM_020893.2:p.Cys840Cys/c.2520T>C,tgT/tgC,LOW,,0.59365,0.5843,rs1947717,,,,,,chr9,100105735,100105735,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys840Cys/c.2520T>C|1701|CCDC180|protein_coding|CODING|NM_020893.2|19|1),non_coding_exon_variant(MODIFIER|||n.3943T>C||LOC100499484-C9ORF174||NON_CODING|NR_036527.1|33|1),non_coding_exon_variant(MODIFIER|||n.3943T>C||LOC100499484-C9ORF174||NON_CODING|NR_036528.1|33|1),non_coding_exon_variant(MODIFIER|||n.3503T>C||LOC100499484-C9ORF174||NON_CODING|NR_036529.1|30|1)",,,,,0.5542,0.6628,0.3936,0.55,0.73,0.46,,,,,,,,,,,,,,,,
missense_variant,CCDC180,MISSENSE,NM_020893.2:p.Arg1034Cys/c.3100C>T,Cgc/Tgc,MODERATE,,0.000599042,0,rs117603641,0.06(T),0.147(B),1.845(L),-1.1050(T),,chr9,100112803,100112803,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1034Cys/c.3100C>T|1701|CCDC180|protein_coding|CODING|NM_020893.2|22|1),intron_variant(MODIFIER|||n.4054-4048C>T||LOC100499484-C9ORF174||NON_CODING|NR_036527.1|33|1),intron_variant(MODIFIER|||n.3614-4048C>T||LOC100499484-C9ORF174||NON_CODING|NR_036529.1|30|1),non_coding_exon_variant(MODIFIER|||n.4523C>T||LOC100499484-C9ORF174||NON_CODING|NR_036528.1|36|1)",HUVEC:H3K27me3,,,,0,0,0.002,,,,,0.000063(D),1.000(D),"2.5,2.5(T,T)",0.0324(T),0.165,2.391313,5.39,4.49,0.591000,1.418000,1.536000,0.548000,0.196000,0.347000,12.1681
missense_variant,CCDC180,MISSENSE,NM_020893.2:p.Phe1175Leu/c.3523T>C,Ttc/Ctc,MODERATE,COSM150643(4),0.23143,0.2907,rs3747495,0.69(T),"0.097,0.14(B,B)",0.805(L),-0.9266(T),,chr9,100122291,100122291,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe1175Leu/c.3523T>C|1701|CCDC180|protein_coding|CODING|NM_020893.2|26|1),non_coding_exon_variant(MODIFIER|||n.4442T>C||LOC100499484-C9ORF174||NON_CODING|NR_036527.1|37|1),non_coding_exon_variant(MODIFIER|||n.4946T>C||LOC100499484-C9ORF174||NON_CODING|NR_036528.1|40|1),non_coding_exon_variant(MODIFIER|||n.4002T>C||LOC100499484-C9ORF174||NON_CODING|NR_036529.1|34|1)","H1ESC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2628,0.3444,0.1879,0.17,0.14,0.18,,0.027445(N),1.000(P),"3.13,3.15,3.15(T,T,T)",0.0000(T),0.087,2.103262,5.71,3.39,0.459000,0.544000,1.588000,0.031000,0.002000,0.676000,6.8103
synonymous_variant,CCDC180,SILENT,NM_020893.2:p.Gln1697Gln/c.5091A>G,caA/caG,LOW,COSM150644(2),0.419329,0.5248,rs11581,,,,,,chr9,100139161,100139161,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1697Gln/c.5091A>G|1701|CCDC180|protein_coding|CODING|NM_020893.2|37|1),non_coding_exon_variant(MODIFIER|||n.5932A>G||LOC100499484-C9ORF174||NON_CODING|NR_036527.1|49|1),non_coding_exon_variant(MODIFIER|||n.6514A>G||LOC100499484-C9ORF174||NON_CODING|NR_036528.1|51|1),non_coding_exon_variant(MODIFIER|||n.5381A>G||LOC100499484-C9ORF174||NON_CODING|NR_036529.1|45|1)","H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.3057,0.4582,0.1958,0.31,0.53,0.19,,,,,,,,,,,,,,,,
synonymous_variant,TDRD7,SILENT,NM_014290.2:p.Leu11Leu/c.33A>G,ctA/ctG,LOW,COSM3982624(1),0.544928,0.5804,rs1381532,,,,,,chr9,100190780,100190780,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu11Leu/c.33A>G|1098|TDRD7|protein_coding|CODING|NM_014290.2|2|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4131,0.598,0.5119,0.52,0.60,0.48,,,,,,,,,,,,,,,,
missense_variant,TDRD7,MISSENSE,NM_014290.2:p.Val150Ala/c.449T>C,gTt/gCt,MODERATE,COSM150645(3),0.544728,0.5784,rs2045732,0.59(T),0.002(B),0(N),-0.9545(T),,chr9,100194406,100194406,T,C,het,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val150Ala/c.449T>C|1098|TDRD7|protein_coding|CODING|NM_014290.2|4|1),"GM12878:BATF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4131,0.598,0.5129,0.52,0.60,0.48,,0.131355(N),1.000(P),"2.7,2.7(T,T)",0.0000(T),0.004,-1.236835,4.98,0.998,-1.333000,0.092000,-0.001000,0.004000,0.012000,0.031000,5.7697
synonymous_variant,TDRD7,SILENT,NM_014290.2:p.Cys600Cys/c.1800T>C,tgT/tgC,LOW,,0.00339457,0,rs12552100,,,,,,chr9,100234633,100234633,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys600Cys/c.1800T>C|1098|TDRD7|protein_coding|CODING|NM_014290.2|10|1),HepG2:H3K36me3,,,,0,0.0014,0.0149,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,TSTD2,MISSENSE,NM_139246.4:p.Ala109Asp/c.326C>A,gCt/gAt,MODERATE,COSM150646(4),0.217452,0.253,rs10817858,0.62(T),0.011(B),1.61(L),-0.9810(T),,chr9,100388119,100388119,G,T,het,missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala109Asp/c.326C>A|516|TSTD2|protein_coding|CODING|NM_139246.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4121,0.1167,0.2177,0.16,0.11,0.19,,0.594432(N),1.000(P),1.46(T),0.0000(T),0.053,1.885639,4.8,1.8,0.563000,0.258000,0.262000,0.959000,0.087000,0.001000,1.6494
missense_variant,TSTD2,MISSENSE,NM_139246.4:p.Arg83Gln/c.248G>A,cGg/cAg,MODERATE,COSM3763473(2),0.636981,0.5169,rs2773347,1(T),0.001(B),-1.52(N),-0.9734(T),,chr9,100388197,100388197,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg83Gln/c.248G>A|516|TSTD2|protein_coding|CODING|NM_139246.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5,0.696,0.669,0.71,0.78,0.67,,0.000571(N),0.000(P),1.59(T),0.0000(T),0.037,-0.385744,4.67,2.33,-0.521000,0.340000,1.150000,0.613000,0.953000,0.926000,3.6294
synonymous_variant,NCBP1,SILENT,NM_002486.4:p.Arg3Arg/c.9G>A,cgG/cgA,LOW,,0.00459265,0,rs11554641,,,,,,chr9,100396172,100396172,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg3Arg/c.9G>A|790|NCBP1|protein_coding|CODING|NM_002486.4|1|1),upstream_gene_variant(MODIFIER||210||516|TSTD2|protein_coding|CODING|NM_139246.4||1)","H1ESC:PolII,NHEK:H3K9ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0,0.0043,0.0189,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,FOXE1,SILENT,NM_004473.3:p.Leu129Leu/c.387T>C,ctT/ctC,LOW,COSM4163149(2),0.882788,0.9911,rs3021523,,,,,,chr9,100616583,100616583,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu129Leu/c.387T>C|373|FOXE1|protein_coding|CODING|NM_004473.3|1|1),"HeLa-S3:DNase1,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K4me3,GM06990:DNase1",,RCV000081101.1,,0.82,0.8271,0.7604,0.80,0.93,0.74,,,,,,,,,,,,,,,,
synonymous_variant,FOXE1,SILENT,NM_004473.3:p.Ser275Ser/c.825C>T,tcC/tcT,LOW,,0.686102,0.88,rs3021526,,,,,,chr9,100617021,100617021,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser275Ser/c.825C>T|373|FOXE1|protein_coding|CODING|NM_004473.3|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,RCV000081103.1,,0.6401,0.6542,0.5825,,,,,,,,,,,,,,,,,,,
missense_variant,C9orf156,MISSENSE,NM_016481.4:p.Val324Met/c.970G>A,Gtg/Atg,MODERATE,COSM1582998(3),0.589257,0.7788,rs2282192,0.13(T),"0.009,0.001(B,B)",1.175(L),-0.9611(T),,chr9,100672338,100672338,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val324Met/c.970G>A|441|C9orf156|protein_coding|CODING|NM_016481.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5409,0.4553,0.2704,0.42,0.71,0.27,,0.740603(N),1.000(P),"0.84,0.84(T,T)",0.0000(T),0.026,1.360029,5.03,-3.42,-1.559000,-0.506000,-0.162000,0.222000,0.001000,0.000000,1.5546
synonymous_variant,NANS,SILENT,NM_018946.3:p.Asp34Asp/c.102C>T,gaC/gaT,LOW,COSM3763481(3),0.391773,0.124,rs3739670,,,,,,chr9,100819192,100819192,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp34Asp/c.102C>T|359|NANS|protein_coding|CODING|NM_018946.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,K562:SP1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.5634,0.2622,0.2068,0.34,0.62,0.20,,,,,,,,,,,,,,,,
synonymous_variant,NANS,SILENT,NM_018946.3:p.Ala51Ala/c.153T>C,gcT/gcC,LOW,,0.640775,0.3323,rs13049,,,,,,chr9,100823084,100823084,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala51Ala/c.153T>C|359|NANS|protein_coding|CODING|NM_018946.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7147,0.6643,0.4781,0.62,0.87,0.50,,,,,,,,,,,,,,,,
synonymous_variant,CORO2A,SILENT,NM_003389.3:p.Thr175Thr/c.525G>A,acG/acA,LOW,,0.0585064,0.0347,rs386609492,,,,,,chr9,100895443,100895443,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr175Thr/c.525G>A|525|CORO2A|protein_coding|CODING|NM_003389.3|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr175Thr/c.525G>A|525|CORO2A|protein_coding|CODING|NM_052820.3|5|1)","K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0971,0.085,0.0994,0.08,0.02,0.12,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D2,SILENT,NM_001267571.1:p.Ala584Ala/c.1752A>G,gcA/gcG,LOW,COSM3982629(2),0.599441,0.498,rs3739666,,,,,,chr9,100971348,100971348,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala584Ala/c.1752A>G|928|TBC1D2|protein_coding|CODING|NM_001267571.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala124Ala/c.372A>G|468|TBC1D2|protein_coding|CODING|NM_001267572.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala584Ala/c.1752A>G|917|TBC1D2|protein_coding|CODING|NM_018421.3|9|1),non_coding_exon_variant(MODIFIER|||n.1790A>G||TBC1D2||CODING|NR_051978.1|8|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5399,0.5418,0.5706,0.62,0.75,0.56,,,,,,,,,,,,,,,,
synonymous_variant,GABBR2,SILENT,NM_005458.7:p.Pro125Pro/c.375T>G,ccT/ccG,LOW,COSM3982634(1),0.73103,0.3948,rs2808536,,,,,,chr9,101340301,101340301,A,C,hom,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro125Pro/c.375T>G|941|GABBR2|protein_coding|CODING|NM_005458.7|2|1),"NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.7843,0.6816,0.7217,0.79,0.94,0.71,,,,,,,,,,,,,,,,
missense_variant,ANKS6,MISSENSE,NM_173551.3:p.Val644Ile/c.1930G>A,Gta/Ata,MODERATE,COSM4163154(1),0.8752,0.7421,rs6415847,0.27(T),,-0.095(N),-0.9511(T),,chr9,101533220,101533220,C,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val644Ile/c.1930G>A|871|ANKS6|protein_coding|CODING|NM_173551.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.8476,0.8314,0.9742,0.96,0.96,0.97,,,1.000(P),-0.32(T),0.0000(T),.,0.128057,5.76,2.51,0.462000,0.763000,0.930000,0.591000,0.157000,0.030000,8.1071
missense_variant,COL15A1,MISSENSE,NM_001855.4:p.Arg163His/c.488G>A,cGc/cAc,MODERATE,COSM3763483(1),0.244808,0.1974,rs2075662,0.25(T),"0.016,0.059(B,B)",1.5(L),-1.0052(T),,chr9,101748234,101748234,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg163His/c.488G>A|1388|COL15A1|protein_coding|CODING|NM_001855.4|3|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.2474,0.2637,0.1551,0.21,0.32,0.16,,0.002213(N),0.089(P),0.08(T),0.0000(T),0.076,1.312663,5.25,1.22,0.650000,0.020000,2.443000,0.432000,0.970000,0.286000,8.0382
missense_variant,COL15A1,MISSENSE,NM_001855.4:p.Met204Val/c.610A>G,Atg/Gtg,MODERATE,,0.602835,0.5853,rs2075663,1(T),"0.0,0.0(B,B)",-2.69(N),-0.9304(T),,chr9,101748356,101748356,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met204Val/c.610A>G|1388|COL15A1|protein_coding|CODING|NM_001855.4|3|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.5798,0.5447,0.4155,0.50,0.75,0.38,,0.000004(N),1.000(P),-0.55(T),0.0000(T),0.041,1.249435,5.25,4.34,-0.128000,0.704000,4.927000,0.703000,0.998000,1.000000,8.8377
missense_variant,COL15A1,MISSENSE,NM_001855.4:p.Gly446Arg/c.1336G>A,Ggg/Agg,MODERATE,COSM3763484(1),0.160144,0.2927,rs35934703,0.32(T),0.0(B),0(N),-1.0638(T),,chr9,101767315,101767315,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly446Arg/c.1336G>A|1388|COL15A1|protein_coding|CODING|NM_001855.4|9|1),"IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2096,0.134,0.0785,0.09,0.11,0.08,,0.012554(N),1.000(P),-2.46(D),0.0000(T),0.03,-0.335893,3.21,-0.633,-1.073000,-0.131000,0.267000,0.002000,0.001000,0.001000,5.9749
missense_variant,COL15A1,MISSENSE,NM_001855.4:p.Pro531Arg/c.1592C>G,cCt/cGt,MODERATE,,0.0565096,0,rs35529307,0.53(T),0.725(P),1.445(L),-0.5602(T),,chr9,101778346,101778346,C,G,het,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro531Arg/c.1592C>G|1388|COL15A1|protein_coding|CODING|NM_001855.4|11|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0828,0.0605,0.0954,0.09,0.05,0.12,,0.000121(N),1.000(N),-2.66(D),0.0432(T),0.146,1.618850,3.93,3.93,0.650000,2.187000,1.851000,0.036000,0.054000,0.056000,11.6505
synonymous_variant,COL15A1,SILENT,NM_001855.4:p.Pro1129Pro/c.3387C>T,ccC/ccT,LOW,COSM3763486(1),0.385383,0.5268,rs4480177,,,,,,chr9,101822220,101822220,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1129Pro/c.3387C>T|1388|COL15A1|protein_coding|CODING|NM_001855.4|36|1),"HUVEC:H3K27me3,CD4:H2BK5ac,K562:H3K27ac,CD4:H4K91ac,K562:H3K4me1,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,HepG2:H3K27me3",,,,0.4305,0.3473,0.2038,0.26,0.38,0.20,,,,,,,,,,,,,,,,
missense_variant,NR4A3,MISSENSE,NM_173200.2:p.Ser251Gly/c.751A>G,Agc/Ggc,MODERATE,COSM4163161(2),0.373203,0.2292,rs12344570,0.73(T),"0.0,0.0,0.0(B,B,B)",-0.74(N),-1.0013(T),,chr9,102591042,102591042,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser240Gly/c.718A>G|626|NR4A3|protein_coding|CODING|NM_006981.3|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser240Gly/c.718A>G|443|NR4A3|protein_coding|CODING|NM_173199.2|3|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser251Gly/c.751A>G|637|NR4A3|protein_coding|CODING|NM_173200.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1994,0.3818,0.5129,,,,,0.082995(N),0.993(P),"-2.74,-2.29,-2.75(D,D,D)",0.0000(T),0.018,-1.287569,4.54,3.65,-1.019000,0.475000,0.664000,0.292000,1.000000,1.000000,9.749
synonymous_variant,NR4A3,SILENT,NM_173200.2:p.Ala412Ala/c.1236C>T,gcC/gcT,LOW,COSM3982638(1),0.290535,0.1687,rs10988904,,,,,,chr9,102595685,102595685,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala401Ala/c.1203C>T|626|NR4A3|protein_coding|CODING|NM_006981.3|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala412Ala/c.1236C>T|637|NR4A3|protein_coding|CODING|NM_173200.2|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala401Ala/c.1203C>T|443|NR4A3|protein_coding|CODING|NM_173199.2|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1595,0.2695,0.3857,0.37,0.38,0.36,,,,,,,,,,,,,,,,
missense_variant,STX17,MISSENSE,NM_017919.2:p.Val94Ile/c.280G>A,Gtt/Att,MODERATE,,0.000399361,0,rs41273937,0.55(T),"0.002,0.01(B,B)",0.49(N),-1.0102(T),,chr9,102713432,102713432,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val94Ile/c.280G>A|302|STX17|protein_coding|CODING|NM_017919.2|4|1),"K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.002,0.00,0.00,0.00,,0.006983(N),0.674(N),"2.0,2.0,2.0(T,T,T)",0.0269(T),0.108,0.363150,5.67,2.81,0.650000,0.317000,1.347000,0.998000,0.996000,0.985000,8.8778
synonymous_variant,TEX10,SILENT,NM_017746.3:p.Phe911Phe/c.2733C>T,ttC/ttT,LOW,,0.626997,0.8542,rs7472,,,,,,chr9,103064530,103064530,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe895Phe/c.2685C>T|913|TEX10|protein_coding|CODING|NM_001161584.1|15|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe911Phe/c.2733C>T|929|TEX10|protein_coding|CODING|NM_017746.3|15|1),downstream_gene_variant(MODIFIER||1104||1065|INVS|protein_coding|CODING|NM_014425.3||1),downstream_gene_variant(MODIFIER||1104||895|INVS|protein_coding|CODING|NM_183245.2||1),downstream_gene_variant(MODIFIER||1104|||INVS||CODING|NR_051962.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7219,0.611,0.329,0.42,0.59,0.34,,,,,,,,,,,,,,,,
synonymous_variant,MURC,SILENT,NM_001018116.2:p.Arg332Arg/c.996G>A,agG/agA,LOW,COSM3763491(1),0.293331,0.0804,rs2780956,,,,,,chr9,103348634,103348634,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg332Arg/c.996G>A|364|MURC|protein_coding|CODING|NM_001018116.2|2|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.317,0.4784,0.4254,0.38,0.31,0.42,,,,,,,,,,,,,,,,
synonymous_variant,GRIN3A,SILENT,NM_133445.2:p.Gly373Gly/c.1119G>A,ggG/ggA,LOW,COSM1179841(1),0.71865,0.4315,rs2506354,,,,,,chr9,104449063,104449063,C,T,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly373Gly/c.1119G>A|1115|GRIN3A|protein_coding|CODING|NM_133445.2|2|1),,,,,0.7434,0.7133,0.7913,0.80,0.84,0.78,,,,,,,,,,,,,,,,
synonymous_variant,GRIN3A,SILENT,NM_133445.2:p.Pro229Pro/c.687A>G,ccA/ccG,LOW,,0.827276,0.5635,rs1337677,,,,,,chr9,104499575,104499575,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro229Pro/c.687A>G|1115|GRIN3A|protein_coding|CODING|NM_133445.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8855,0.902,0.9583,0.92,0.86,0.95,,,,,,,,,,,,,,,,
missense_variant,OR13F1,MISSENSE,NM_001004485.1:p.Phe18Ser/c.53T>C,tTt/tCt,MODERATE,,0.783546,0.7827,rs7049042,1(T),0.0(B),-2.345(N),-1.0540(T),,chr9,107266596,107266596,T,C,hom,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe18Ser/c.53T>C|319|OR13F1|protein_coding|CODING|NM_001004485.1|1|1),,,,,0.6677,0.7666,0.7475,0.77,0.86,0.72,,0.312725(N),1.000(P),7.46(T),0.0000(T),0.042,-2.651161,3.91,3.0,-0.816000,0.620000,2.260000,0.065000,0.855000,0.006000,7.6968
synonymous_variant,OR13F1,SILENT,NM_001004485.1:p.Ala77Ala/c.231C>G,gcC/gcG,LOW,,0.783347,0.7827,rs1949755,,,,,,chr9,107266774,107266774,C,G,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala77Ala/c.231C>G|319|OR13F1|protein_coding|CODING|NM_001004485.1|1|1),,,,,0.6667,0.7666,0.7475,0.77,0.86,0.72,,,,,,,,,,,,,,,,
missense_variant,OR13F1,MISSENSE,NM_001004485.1:p.Met101Val/c.301A>G,Atg/Gtg,MODERATE,,0.783946,0.7827,rs1403812,0.04(D),0.034(B),2.06(M),-1.0517(T),,chr9,107266844,107266844,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met101Val/c.301A>G|319|OR13F1|protein_coding|CODING|NM_001004485.1|1|1),,,,,0.6697,0.7666,0.7475,0.77,0.86,0.72,,0.000505(N),0.995(P),4.5(T),0.0000(T),0.14,1.422607,4.26,3.1,0.529000,0.964000,1.133000,0.962000,0.980000,0.983000,4.709
missense_variant,OR13F1,MISSENSE,NM_001004485.1:p.Val134Ile/c.400G>A,Gtc/Atc,MODERATE,COSM1459066(1),0.782748,0.7817,rs1403811,0.5(T),0.001(B),-0.14(N),-0.9841(T),,chr9,107266943,107266943,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val134Ile/c.400G>A|319|OR13F1|protein_coding|CODING|NM_001004485.1|1|1),,,,,0.6656,0.7651,0.7475,0.77,0.86,0.73,,0.201825(N),1.000(P),7.59(T),0.0000(T),0.023,-2.774428,4.3,-4.38,-2.269000,-1.774000,-1.543000,0.053000,0.002000,0.000000,6.9688
missense_variant,OR13F1,MISSENSE,NM_001004485.1:p.Thr254Met/c.761C>T,aCg/aTg,MODERATE,,0.530351,0.4296,rs7030820,0.02(D),0.947(D),2.995(M),-1.1710(T),,chr9,107267304,107267304,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr254Met/c.761C>T|319|OR13F1|protein_coding|CODING|NM_001004485.1|1|1),,,,,0.4918,0.5821,0.6173,0.58,0.52,0.60,,0.003095(N),0.991(P),8.27(T),0.0000(T),0.147,2.956984,4.3,3.41,0.655000,1.415000,1.929000,0.965000,1.000000,0.003000,10.5962
missense_variant,NIPSNAP3A,MISSENSE,NM_015469.1:p.Arg100Gln/c.299G>A,cGg/cAg,MODERATE,COSM3982669(1),0.63758,0.5228,rs2274870,0.1(T),"0.675,0.43(P,B)",3.295(M),-0.9451(T),,chr9,107515214,107515214,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg100Gln/c.299G>A|247|NIPSNAP3A|protein_coding|CODING|NM_015469.1|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5521,0.7118,0.6173,0.68,0.75,0.64,,0.000001(N),0.071(P),-0.28(T),0.0000(T),0.081,4.179941,5.4,1.26,0.655000,0.243000,0.876000,0.986000,0.989000,0.970000,6.5591
missense_variant,ABCA1,MISSENSE,NM_005502.3:p.Lys1587Arg/c.4760A>G,aAa/aGa,MODERATE,COSM3763496(1),0.538339,0.5883,rs2230808,1(T),0.034(B),0.19(N),-0.9778(T),,chr9,107562804,107562804,T,C,hom,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1587Arg/c.4760A>G|2261|ABCA1|protein_coding|CODING|NM_005502.3|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.6258,0.7478,0.7922,0.59,0.24,0.76,,0.000000(D),0.000(P),-2.23(D),0.0000(T),0.235,1.465085,5.93,5.93,0.533000,2.271000,5.978000,0.995000,1.000000,1.000000,16.3798
missense_variant,FKTN,MISSENSE,NM_001079802.1:p.Arg203Gln/c.608G>A,cGa/cAa,MODERATE,COSM3763500(1),0.158147,0.0913,rs34787999,0.16(T),"0.197,0.013,0.013(B,B,B)",2.075(M),-1.1502(T),,chr9,108366734,108366734,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg203Gln/c.608G>A|461|FKTN|protein_coding|CODING|NM_001079802.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg203Gln/c.608G>A|430|FKTN|protein_coding|CODING|NM_001198963.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg203Gln/c.608G>A|461|FKTN|protein_coding|CODING|NM_006731.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000079437.3,,0.0982,0.2205,0.2724,0.26,0.16,0.32,,0.003239(N),0.078(P),"-2.41,-1.61,-2.74,-1.63(D,D,D,D)",0.0000(T),0.114,3.356859,5.36,5.36,0.563000,2.496000,4.399000,0.915000,1.000000,1.000000,11.5448
synonymous_variant,FKTN,SILENT,NM_001079802.1:p.Leu342Leu/c.1026C>A,ctC/ctA,LOW,COSM4163187(1),0.178315,0.0903,rs17309806,,,,,,chr9,108380355,108380355,C,A,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu342Leu/c.1026C>A|461|FKTN|protein_coding|CODING|NM_001079802.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu342Leu/c.1026C>A|430|FKTN|protein_coding|CODING|NM_001198963.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu342Leu/c.1026C>A|461|FKTN|protein_coding|CODING|NM_006731.2|8|1)",,,RCV000079422.3,,0.0982,0.2248,0.2724,0.29,0.24,0.32,,,0.000(P),,,.,0.750751,6.02,2.98,-0.142000,1.563000,0.601000,0.993000,1.000000,1.000000,1.8877
synonymous_variant,ZNF462,SILENT,NM_021224.4:p.Tyr365Tyr/c.1095T>C,taT/taC,LOW,COSM1459160(1),0.197284,0.129,rs1000152,,,,,,chr9,109687288,109687288,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr365Tyr/c.1095T>C|2506|ZNF462|protein_coding|CODING|NM_021224.4|3|1),intron_variant(MODIFIER|||n.58+14097A>G||MIR548Q||NON_CODING|NR_031752.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0838,0.17,0.0895,0.19,0.37,0.09,,,,,,,,,,,,,,,,
synonymous_variant,ZNF462,SILENT,NM_021224.4:p.Asn1222Asn/c.3666T>C,aaT/aaC,LOW,,0.51877,0.4802,rs3814540,,,,,,chr9,109689859,109689859,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1222Asn/c.3666T>C|2506|ZNF462|protein_coding|CODING|NM_021224.4|3|1),intron_variant(MODIFIER|||n.58+11526A>G||MIR548Q||NON_CODING|NR_031752.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4796,0.4481,0.3936,0.45,0.64,0.36,,,,,,,,,,,,,,,,
missense_variant,ZNF462,MISSENSE,NM_021224.4:p.Asn1828Ser/c.5483A>G,aAc/aGc,MODERATE,COSM3982673(2),0.559505,0.4782,rs3814538,0.85(T),"0.0,0.0(B,B)",0(N),-1.0308(T),,chr9,109691676,109691676,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn1828Ser/c.5483A>G|2506|ZNF462|protein_coding|CODING|NM_021224.4|3|1),intron_variant(MODIFIER|||n.58+9709T>C||MIR548Q||NON_CODING|NR_031752.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4755,0.4625,0.3917,0.50,0.77,0.36,,0.181055(N),1.000(P),"3.58,4.03,4.14,4.16(T,T,T,T)",0.0000(T),0.01,-2.046486,5.92,3.86,-0.215000,0.858000,1.305000,0.824000,0.991000,0.013000,5.0988
synonymous_variant,ZNF462,SILENT,NM_021224.4:p.Leu1954Leu/c.5862A>G,ttA/ttG,LOW,,,,rs139184113,,,,,,chr9,109692820,109692820,A,G,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1954Leu/c.5862A>G|2506|ZNF462|protein_coding|CODING|NM_021224.4|4|1),intron_variant(MODIFIER|||n.58+8565T>C||MIR548Q||NON_CODING|NR_031752.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,ACTL7B,SILENT,NM_006686.3:p.Thr290Thr/c.870T>C,acT/acC,LOW,,0.128195,0.1379,rs3750467,,,,,,chr9,111617341,111617341,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr290Thr/c.870T>C|415|ACTL7B|protein_coding|CODING|NM_006686.3|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.2301,0.1009,0.1451,0.11,0.06,0.13,,,,,,,,,,,,,,,,
missense_variant,IKBKAP,MISSENSE,NM_003640.3:p.Pro1158Leu/c.3473C>T,cCc/cTc,MODERATE,COSM3763504(2),0.245008,0.2937,rs1538660,0.53(T),0.006(B),1.61(L),-0.9510(T),,chr9,111641825,111641825,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1158Leu/c.3473C>T|1332|IKBKAP|protein_coding|CODING|NM_003640.3|33|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.228,0.1599,0.172,0.21,0.30,0.17,,0.004524(N),1.000(P),"2.05,1.66(T,T)",0.0000(T),0.264,0.884182,5.96,2.96,-0.345000,0.334000,3.011000,0.657000,0.027000,0.982000,6.3668
missense_variant,IKBKAP,MISSENSE,NM_003640.3:p.Cys1072Ser/c.3214T>A,Tgt/Agt,MODERATE,COSM3763505(1),0.245807,0.2937,rs3204145,0.02(D),0.0(B),0(N),-0.9892(T),,chr9,111651620,111651620,A,T,het,missense_variant(MODERATE|MISSENSE|Tgt/Agt|p.Cys1072Ser/c.3214T>A|1332|IKBKAP|protein_coding|CODING|NM_003640.3|29|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.228,0.1585,0.172,0.21,0.30,0.17,,0.000171(D),0.999(P),"1.75,1.75(T,T)",0.0000(T),0.341,3.162160,5.51,5.51,0.533000,2.080000,6.550000,0.842000,0.995000,1.000000,13.5727
synonymous_variant,IKBKAP,SILENT,NM_003640.3:p.Leu1023Leu/c.3069G>C,ctG/ctC,LOW,COSM3763506(3),0.315495,0.4762,rs1063110,,,,,,chr9,111653574,111653574,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu1023Leu/c.3069G>C|1332|IKBKAP|protein_coding|CODING|NM_003640.3|28|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.272,0.4553,0.4523,0.34,0.11,0.46,,,,,,,,,,,,,,,,
missense_variant,IKBKAP,MISSENSE,NM_003640.3:p.Ile816Leu/c.2446A>C,Ata/Cta,MODERATE,,0.297724,0.2599,rs2230793,0.15(T),0.001(B),0.695(N),-0.9186(T),,chr9,111659483,111659483,T,G,het,missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile816Leu/c.2446A>C|1332|IKBKAP|protein_coding|CODING|NM_003640.3|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2239,0.2507,0.1998,0.27,0.44,0.18,,0.000080(N),1.000(P),"1.67,1.67(T,T)",0.0000(T),0.047,1.581764,5.24,3.39,-0.352000,0.304000,1.614000,0.394000,0.203000,0.999000,10.2342
missense_variant,IKBKAP,MISSENSE,NM_003640.3:p.Gly765Glu/c.2294G>A,gGa/gAa,MODERATE,,0.289137,0.2589,rs2230792,1(T),0.0(B),-2.63(N),-0.9240(T),,chr9,111660851,111660851,C,T,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly765Glu/c.2294G>A|1332|IKBKAP|protein_coding|CODING|NM_003640.3|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2239,0.2493,0.1998,0.26,0.41,0.18,,0.000006(N),1.000(P),"1.88,1.88(T,T)",0.0000(T),0.163,-1.591131,5.21,4.05,-1.179000,0.368000,2.915000,0.120000,0.996000,1.000000,6.8594
missense_variant,CTNNAL1,MISSENSE,NM_003798.3:p.Glu527Gln/c.1579G>C,Gaa/Caa,MODERATE,,0.197883,0.3155,rs7021366,0.5(T),"0.076,0.919,0.076,0.025,0.076(B,D,B,B,B)",0.975(L),-0.9874(T),,chr9,111727670,111727670,C,G,het,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu527Gln/c.1579G>C|718|CTNNAL1|protein_coding|CODING|NM_001286974.1|11|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu527Gln/c.1579G>C|734|CTNNAL1|protein_coding|CODING|NM_003798.3|11|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1616,0.3199,0.2694,0.21,0.06,0.28,,0.000006(D),0.000(P),"1.67,1.8,1.65(T,T,T)",0.0000(T),0.272,2.352183,5.91,5.91,0.655000,2.793000,6.063000,0.975000,1.000000,1.000000,17.7923
synonymous_variant,CTNNAL1,SILENT,NM_003798.3:p.Val141Val/c.423G>A,gtG/gtA,LOW,,0.198283,0.3145,rs2297581,,,,,,chr9,111755008,111755008,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val141Val/c.423G>A|718|CTNNAL1|protein_coding|CODING|NM_001286974.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val141Val/c.423G>A|734|CTNNAL1|protein_coding|CODING|NM_003798.3|3|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1646,0.3228,0.2674,0.21,0.06,0.28,,,,,,,,,,,,,,,,
synonymous_variant,TMEM245,SILENT,NM_032012.3:p.Ser234Ser/c.702C>T,tcC/tcT,LOW,COSM4163199(1),0.197684,0.2937,rs2271878,,,,,,chr9,111868885,111868885,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser234Ser/c.702C>T|879|TMEM245|protein_coding|CODING|NM_032012.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1677,0.3256,0.2803,0.21,0.05,0.28,,,,,,,,,,,,,,,,
missense_variant,TMEM245,MISSENSE,NM_032012.3:p.His113Arg/c.338A>G,cAc/cGc,MODERATE,COSM3763508(3),0.196885,0.2937,rs1051474,0.24(T),"0.001,0.001(B,B)",-0.205(N),-0.9205(T),,chr9,111881856,111881856,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His113Arg/c.338A>G|879|TMEM245|protein_coding|CODING|NM_032012.3|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.1636,0.3256,0.2793,0.15,0.04,0.21,,0.000041(N),0.079(P),2.04(T),0.0000(T),0.096,-0.075434,4.9,2.58,0.533000,0.724000,1.881000,0.554000,1.000000,1.000000,7.8579
synonymous_variant,TMEM245,SILENT,NM_032012.3:p.Leu89Leu/c.267A>G,ctA/ctG,LOW,COSM455118(5),0.325879,0.2937,rs6825,,,,,,chr9,111881927,111881927,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu89Leu/c.267A>G|879|TMEM245|protein_coding|CODING|NM_032012.3|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.316,0.4179,0.4652,0.37,0.22,0.44,,,,,,,,,,,,,,,,
missense_variant,TMEM245,MISSENSE,NM_032012.3:p.Asp9Glu/c.27C>G,gaC/gaG,MODERATE,COSM4163200(2),0.351837,0.2937,rs12001627,1(T),"0.0,0.0(B,B)",0(N),-0.9186(T),,chr9,111882167,111882167,G,C,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp9Glu/c.27C>G|879|TMEM245|protein_coding|CODING|NM_032012.3|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,GM12878:SIX5,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:BCLAF1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:CTCFL,K562:E2F6,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.3098,0.4222,0.4543,,,,,0.992227(N),1.000(P),1.96(T),0.0000(T),0.02,0.120334,4.73,0.646,-0.371000,-0.136000,-0.412000,0.005000,0.001000,0.000000,5.3768
missense_variant,FRRS1L,MISSENSE,NM_014334.2:p.Arg51Pro/c.152G>C,cGg/cCg,MODERATE,COSM4163201(1),0.998602,1,rs10979723,0.06(T),0.0(B),0(N),-0.9028(T),,chr9,111929420,111929420,C,G,hom,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg51Pro/c.152G>C|344|FRRS1L|protein_coding|CODING|NM_014334.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.9928,1,1,,,,,0.004080(N),1.000(P),,0.0000(T),0.26,1.686100,2.35,1.38,-1.365000,-0.084000,0.374000,0.104000,0.057000,0.927000,4.6226
missense_variant,FRRS1L,MISSENSE,NM_014334.2:p.Arg51Gly/c.151C>G,Cgg/Ggg,MODERATE,COSM4163202(1),1,1,rs10979724,0.11(T),0.0(B),0(N),-1.0385(T),,chr9,111929421,111929421,G,C,hom,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg51Gly/c.151C>G|344|FRRS1L|protein_coding|CODING|NM_014334.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,1,1,,,,,0.004080(U),1.000(P),,0.0501(T),0.086,1.439920,2.35,1.43,-1.339000,-0.051000,0.156000,0.109000,0.052000,0.880000,3.6398
missense_variant,EPB41L4B,MISSENSE,NM_019114.4:p.Asn816Thr/c.2447A>C,aAc/aCc,MODERATE,,0.723842,0.748,rs3750450,0.58(T),0.001(B),0.755(N),-0.9512(T),,chr9,111945049,111945049,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn816Thr/c.2447A>C|900|EPB41L4B|protein_coding|CODING|NM_019114.4|24|1),"HepG2:H3K4me2,HepG2:H3K4me3,IMR90:H3K27me3",,,,0.5573,0.8271,0.7654,0.75,0.77,0.74,,0.033958(N),0.000(P),-1.75(D),0.0000(T),0.016,1.494259,5.72,1.11,0.533000,-0.029000,1.125000,0.988000,0.635000,1.000000,5.6141
missense_variant,AKAP2,MISSENSE,NM_001198656.1:p.Pro20Leu/c.59C>T,cCg/cTg,MODERATE,COSM3750141(3),0.0756789,0.0298,rs78923754,0.01(D),"0.001,0.001(B,B)",,-1.0797(T),,chr9,112811038,112811038,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro20Leu/c.59C>T|948|AKAP2|protein_coding|CODING|NM_001004065.4|1|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro20Leu/c.59C>T|961|AKAP2|protein_coding|CODING|NM_001198656.1|1|1),intron_variant(MODIFIER|||c.582+32719C>T|1103|PALM2-AKAP2|protein_coding|CODING|NM_007203.4|7|1),intron_variant(MODIFIER|||c.582+32719C>T|1090|PALM2-AKAP2|protein_coding|CODING|NM_147150.2|7|1)","H1ESC:PolII,NHEK:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:H3K27me3,IMR90:H3K27ac,GM12878:PolII,HUVEC:H3K27ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1012,0.0879,0.0954,0.08,0.06,0.09,,,1.000(P),"1.5,0.92(T,T)",0.0013(T),0.042,0.450901,3.3,0.302,-1.980000,-0.068000,0.026000,0.000000,0.001000,0.208000,7.3755
missense_variant,PALM2-AKAP2,MISSENSE,NM_007203.4:p.Lys513Gln/c.1537A>C,Aag/Cag,MODERATE,,0.933107,0.998,rs4978872,0.73(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B)",-1.7(N),-0.9577(T),,chr9,112899361,112899361,A,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys371Gln/c.1111A>C|948|AKAP2|protein_coding|CODING|NM_001004065.4|2|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys282Gln/c.844A>C|859|AKAP2|protein_coding|CODING|NM_001136562.2|2|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys371Gln/c.1111A>C|961|AKAP2|protein_coding|CODING|NM_001198656.1|2|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys513Gln/c.1537A>C|1103|PALM2-AKAP2|protein_coding|CODING|NM_007203.4|8|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys513Gln/c.1537A>C|1090|PALM2-AKAP2|protein_coding|CODING|NM_147150.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9387,0.889,0.8141,0.86,0.96,0.81,,0.011602(N),1.000(P),"1.13,1.13,1.13,1.13,1.13,1.13,1.13,1.13(T,T,T,T,T,T,T,T)",0.0000(T),0.223,0.405753,5.23,5.23,-0.121000,1.351000,2.142000,0.177000,0.586000,0.880000,13.1535
missense_variant,PALM2-AKAP2,MISSENSE,NM_007203.4:p.Leu792Ser/c.2375T>C,tTg/tCg,MODERATE,COSM3763515(1),0.455671,0.3135,rs914358,0.71(T),"0.001,0.004,0.001,0.021,0.009,0.001,0.001,0.0(B,B,B,B,B,B,B,B)",0.55(N),-0.9360(T),,chr9,112900199,112900199,T,C,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu650Ser/c.1949T>C|948|AKAP2|protein_coding|CODING|NM_001004065.4|2|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu561Ser/c.1682T>C|859|AKAP2|protein_coding|CODING|NM_001136562.2|2|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu650Ser/c.1949T>C|961|AKAP2|protein_coding|CODING|NM_001198656.1|2|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu792Ser/c.2375T>C|1103|PALM2-AKAP2|protein_coding|CODING|NM_007203.4|8|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu792Ser/c.2375T>C|1090|PALM2-AKAP2|protein_coding|CODING|NM_147150.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,0.499,0.3588,0.4493,0.50,0.57,0.46,,0.117222(N),1.000(P),"2.26,2.26,2.26,2.26,1.51,0.93,0.94,1.53(T,T,T,T,T,T,T,T)",0.0000(T),0.209,-0.853209,5.95,4.96,-0.128000,1.529000,0.734000,0.218000,0.031000,0.000000,5.127
missense_variant,PALM2-AKAP2,MISSENSE,NM_007203.4:p.Ala881Val/c.2642C>T,gCg/gTg,MODERATE,,0.0159744,0,rs61735424,0.17(T),"0.002,0.002,0.002,0.006,0.003,0.006,0.006,0.002(B,B,B,B,B,B,B,B)",0.6(N),-1.0693(T),,chr9,112900466,112900466,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala739Val/c.2216C>T|948|AKAP2|protein_coding|CODING|NM_001004065.4|2|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala650Val/c.1949C>T|859|AKAP2|protein_coding|CODING|NM_001136562.2|2|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala739Val/c.2216C>T|961|AKAP2|protein_coding|CODING|NM_001198656.1|2|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala881Val/c.2642C>T|1103|PALM2-AKAP2|protein_coding|CODING|NM_007203.4|8|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala881Val/c.2642C>T|1090|PALM2-AKAP2|protein_coding|CODING|NM_147150.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,0.0276,0.0202,0.0358,0.04,0.01,0.05,,0.666141(N),1.000(N),"1.59,1.59,1.59,1.59,1.59,1.59,0.86,1.59(T,T,T,T,T,T,T,T)",0.0111(T),0.127,0.647030,5.88,-3.95,-0.880000,-0.573000,-0.009000,0.919000,0.007000,0.006000,3.2787
synonymous_variant,C9orf152,SILENT,NM_001012993.2:p.Asp148Asp/c.444T>C,gaT/gaC,LOW,,0.96905,1,rs10120707,,,,,,chr9,112963504,112963504,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp148Asp/c.444T>C|239|C9orf152|protein_coding|CODING|NM_001012993.2|2|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9796,0.9337,0.9135,0.92,0.98,0.90,,,,,,,,,,,,,,,,
missense_variant,SVEP1,MISSENSE,NM_153366.3:p.Thr3559Met/c.10676C>T,aCg/aTg,MODERATE,COSM3982680(1),0.134185,0.2768,rs17204533,0.27(T),0.701(P),2.635(M),-0.9869(T),,chr9,113132221,113132221,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr3559Met/c.10676C>T|3571|SVEP1|protein_coding|CODING|NM_153366.3|47|1),,,,,0.1391,0.1023,0.168,0.12,0.03,0.16,,0.009394(N),0.000(P),"1.82,1.82,1.82(T,T,T)",0.0000(T),0.282,3.071322,5.81,4.91,0.650000,1.455000,1.871000,0.583000,0.994000,0.995000,14.6555
missense_variant,SVEP1,MISSENSE,NM_153366.3:p.Phe3161Ile/c.9481T>A,Ttc/Atc,MODERATE,COSM3763517(1),0.108427,0.0714,rs111176856,0.71(T),0.014(B),-0.55(N),-1.0552(T),,chr9,113166792,113166792,A,T,het,missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe3161Ile/c.9481T>A|3571|SVEP1|protein_coding|CODING|NM_153366.3|39|1),"IMR90:H3K36me3,NHEK:H3K27me3",,,,0.1462,0.1888,0.1839,0.14,0.04,0.19,,0.110409(N),0.000(P),"0.19,0.19,0.19(T,T,T)",0.0001(T),0.087,1.163258,5.76,1.62,-0.326000,0.447000,1.663000,0.693000,1.000000,0.993000,3.8013
synonymous_variant,SVEP1,SILENT,NM_153366.3:p.His2918His/c.8754C>T,caC/caT,LOW,COSM3763519(1),0.262979,0.0913,rs2281937,,,,,,chr9,113169126,113169126,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His2918His/c.8754C>T|3571|SVEP1|protein_coding|CODING|NM_153366.3|38|1),"GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2832,0.3372,0.4344,0.37,0.24,0.43,,,,,,,,,,,,,,,,
missense_variant,SVEP1,MISSENSE,NM_153366.3:p.Glu1810Ala/c.5429A>C,gAa/gCa,MODERATE,COSM150669(2),0.185703,0.4087,rs2986671,0.68(T),0.007(B),1.145(L),-0.9503(T),,chr9,113192655,113192655,T,G,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu1810Ala/c.5429A>C|3571|SVEP1|protein_coding|CODING|NM_153366.3|33|1),IMR90:H3K36me3,,,,0.1534,0.2406,0.1829,0.13,0.04,0.17,,0.013385(N),0.001(P),"-0.13,-0.13(T,T)",0.0000(T),0.075,0.489110,5.27,2.82,0.533000,0.397000,2.345000,0.798000,0.022000,0.493000,8.6135
synonymous_variant,SVEP1,SILENT,NM_153366.3:p.Ala1169Ala/c.3507G>A,gcG/gcA,LOW,COSM150672(1),0.184305,0.4067,rs10980398,,,,,,chr9,113220820,113220820,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1169Ala/c.3507G>A|3571|SVEP1|protein_coding|CODING|NM_153366.3|20|1),IMR90:H3K36me3,,,,0.1493,0.2406,0.1819,0.13,0.04,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SVEP1,SILENT,NM_153366.3:p.Ala974Ala/c.2922C>T,gcC/gcT,LOW,,0.191494,0.4206,rs10980402,,,,,,chr9,113233720,113233720,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala974Ala/c.2922C>T|3571|SVEP1|protein_coding|CODING|NM_153366.3|16|1),IMR90:H3K36me3,,,,0.1564,0.2579,0.1819,0.13,0.04,0.17,,,,,,,,,,,,,,,,
missense_variant,SVEP1,MISSENSE,NM_153366.3:p.Val775Ile/c.2323G>A,Gtc/Atc,MODERATE,,,,rs201737972,1(T),"0.001,0.001,0.001(B,B,B)",-0.72(N),-0.9549(T),,chr9,113243564,113243564,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val775Ile/c.2323G>A|3571|SVEP1|protein_coding|CODING|NM_153366.3|12|1),IMR90:H3K36me3,,,,,,,0.00,0.00,0.00,,0.000343(N),1.000(N),"1.88,1.88,1.88,1.88(T,T,T,T)",0.0170(T),0.089,-1.344360,6.02,0.74,-1.090000,0.170000,-0.569000,0.429000,0.623000,0.000000,7.2358
missense_variant,SVEP1,MISSENSE,NM_153366.3:p.Gln581His/c.1743A>C,caA/caC,MODERATE,COSM3763526(1),0.0926518,0.001,rs10817033,0.08(T),"0.996,0.983,0.011(D,D,B)",2.19(M),-1.1185(T),,chr9,113259152,113259152,T,G,het,missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln581His/c.1743A>C|3571|SVEP1|protein_coding|CODING|NM_153366.3|8|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0358,0.0836,0.1233,0.14,0.18,0.12,,0.000001(D),0.000(P),"1.93,1.93,1.93,1.93(T,T,T,T)",0.0001(T),0.421,3.864224,5.8,0.969,0.528000,0.462000,-0.153000,0.997000,1.000000,0.963000,5.2267
synonymous_variant,OR2K2,SILENT,NM_205859.1:p.Ala145Ala/c.435T>C,gcT/gcC,LOW,COSM3763533(2),0.48742,0.498,rs314452,,,,,,chr9,114090279,114090279,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala145Ala/c.435T>C|316|OR2K2|protein_coding|CODING|NM_205859.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.498,0.5764,0.6302,0.56,0.40,0.64,,,,,,,,,,,,,,,,
missense_variant,KIAA0368,MISSENSE,NM_001080398.1:p.Asn876Ser/c.2627A>G,aAc/aGc,MODERATE,,0.40635,0.3492,rs2418163,1(T),0.0(B),-1.15(N),-0.9674(T),,chr9,114174415,114174415,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn876Ser/c.2627A>G|2017|KIAA0368|protein_coding|CODING|NM_001080398.1|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4039,0.3256,0.493,0.46,0.42,0.47,,0.000026(N),0.000(P),-0.05(T),0.0000(T),0.004,0.862983,5.6,4.65,-0.222000,1.533000,5.606000,0.991000,0.999000,1.000000,8.847
missense_variant,PTGR1,MISSENSE,NM_001146108.1:p.Ala27Ser/c.79G>T,Gct/Tct,MODERATE,COSM3763535(1),0.597843,0.6587,rs1053959,0.68(T),"0.03,0.007(B,B)",0.56(N),-0.9350(T),,chr9,114359624,114359624,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala27Ser/c.79G>T|329|PTGR1|protein_coding|CODING|NM_001146108.1|2|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala27Ser/c.79G>T|301|PTGR1|protein_coding|CODING|NM_001146109.1|2|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala27Ser/c.79G>T|329|PTGR1|protein_coding|CODING|NM_012212.3|2|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6401,0.5836,0.5696,0.59,0.56,0.60,,0.202489(N),1.000(P),"0.97,0.97,0.97,0.97(T,T,T,T)",0.0000(T),0.167,1.152557,4.63,-0.431,0.462000,-0.078000,0.091000,0.955000,0.038000,0.001000,8.6856
synonymous_variant,DNAJC25,SILENT,NM_001015882.2:p.Asp216Asp/c.648C>T,gaC/gaT,LOW,,0.0533147,0,rs1322259,,,,,,chr9,114411891,114411891,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp216Asp/c.648C>T|360|DNAJC25|protein_coding|CODING|NM_001015882.2|3|1),intron_variant(MODIFIER|||c.337-17204C>T|153|DNAJC25-GNG10|protein_coding|CODING|NM_004125.3|1|1),non_coding_exon_variant(MODIFIER|||n.942C>T||DNAJC25||CODING|NR_037148.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0276,0.0303,0.0199,0.06,0.12,0.03,,,,,,,,,,,,,,,,
missense_variant,C9orf84,MISSENSE,NM_173521.4:p.Ile1162Thr/c.3485T>C,aTt/aCt,MODERATE,,0.998403,1,rs1475110,1(T),"0.0,0.0,0.0(B,B,B)",-0.695(N),-1.0059(T),,chr9,114454580,114454580,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile1123Thr/c.3368T>C|1405|C9orf84|protein_coding|CODING|NM_001080551.2|23|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile1162Thr/c.3485T>C|1444|C9orf84|protein_coding|CODING|NM_173521.4|25|1),non_coding_exon_variant(MODIFIER|||n.3710T>C||C9orf84||CODING|NR_109816.1|26|1)",,,,,1,1,0.992,1.00,1.00,1.00,,0.842400(N),1.000(P),"3.75,3.75,3.76,3.76(T,T,T,T)",0.0000(T),0.01,-3.086936,5.16,3.2,-0.213000,0.611000,0.428000,0.006000,0.002000,0.305000,3.2813
missense_variant,C9orf84,MISSENSE,NM_173521.4:p.Leu968Pro/c.2903T>C,cTg/cCg,MODERATE,,0.832468,0.9266,rs6477845,0.33(T),"0.0,0.0,0.0(B,B,B)",0.345(N),-1.0927(T),,chr9,114462322,114462322,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu929Pro/c.2786T>C|1405|C9orf84|protein_coding|CODING|NM_001080551.2|20|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu968Pro/c.2903T>C|1444|C9orf84|protein_coding|CODING|NM_173521.4|22|1),non_coding_exon_variant(MODIFIER|||n.3128T>C||C9orf84||CODING|NR_109816.1|23|1)",,,,,0.7924,0.8674,0.7962,0.79,0.81,0.79,,0.430146(N),0.758(P),"3.52,3.52,3.52,3.52(T,T,T,T)",0.0000(T),0.132,0.319163,6.08,-0.713,-1.059000,-0.304000,0.328000,0.288000,0.040000,0.029000,2.0073
missense_variant,C9orf84,MISSENSE,NM_173521.4:p.Tyr932Cys/c.2795A>G,tAt/tGt,MODERATE,,0.85024,0.9266,rs1407390,0.72(T),"0.001,0.0,0.001(B,B,B)",-0.55(N),-1.0523(T),,chr9,114464487,114464487,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr893Cys/c.2678A>G|1405|C9orf84|protein_coding|CODING|NM_001080551.2|19|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr932Cys/c.2795A>G|1444|C9orf84|protein_coding|CODING|NM_173521.4|21|1),non_coding_exon_variant(MODIFIER|||n.3020A>G||C9orf84||CODING|NR_109816.1|22|1)",HSMM:H3K36me3,,,,0.7924,0.8732,0.7952,0.81,0.86,0.79,,0.403794(N),0.000(P),"3.64,3.64,3.65,3.65(T,T,T,T)",0.0000(T),0.087,-1.027272,5.27,-2.51,-0.186000,-0.868000,-1.044000,0.823000,0.930000,0.012000,9.9315
missense_variant,C9orf84,MISSENSE,NM_173521.4:p.Asn809Lys/c.2427T>G,aaT/aaG,MODERATE,,0.217452,0.0476,rs386429560,1(T),"0.001,0.002,0.001(B,B,B)",0.695(N),-0.9231(T),,chr9,114468966,114468966,A,C,het,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn770Lys/c.2310T>G|1405|C9orf84|protein_coding|CODING|NM_001080551.2|16|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn809Lys/c.2427T>G|1444|C9orf84|protein_coding|CODING|NM_173521.4|18|1),non_coding_exon_variant(MODIFIER|||n.2764T>G||C9orf84||CODING|NR_109816.1|20|1)",,,,,0.2106,0.2205,0.2475,0.28,0.34,0.25,,0.981503(N),0.003(P),"3.69,3.7,3.7,3.7(T,T,T,T)",0.0000(T),0.039,-1.181676,4.84,-3.94,-1.740000,-0.675000,-0.190000,0.807000,0.098000,0.001000,2.5329
missense_variant,C9orf84,MISSENSE,NM_173521.4:p.Met734Leu/c.2200A>T,Atg/Ttg,MODERATE,COSM1179842(2),0.143371,0.0268,rs11791445,0.37(T),"0.016,0.016,0.016(B,B,B)",0.255(N),-0.8960(T),,chr9,114476748,114476748,T,A,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met695Leu/c.2083A>T|1405|C9orf84|protein_coding|CODING|NM_001080551.2|13|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met734Leu/c.2200A>T|1444|C9orf84|protein_coding|CODING|NM_173521.4|15|1),non_coding_exon_variant(MODIFIER|||n.2537A>T||C9orf84||CODING|NR_109816.1|17|1)",,,,,0.1401,0.196,0.2286,0.21,0.17,0.23,,0.016970(N),0.000(P),"3.78,3.78,3.79,3.79(T,T,T,T)",0.0000(T),0.097,1.959296,5.63,2.93,0.533000,0.955000,0.577000,0.984000,1.000000,1.000000,7.4418
synonymous_variant,C9orf84,SILENT,NM_173521.4:p.Pro615Pro/c.1845T>C,ccT/ccC,LOW,,0.14357,0.0278,rs12352352,,,,,,chr9,114484783,114484783,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro576Pro/c.1728T>C|1405|C9orf84|protein_coding|CODING|NM_001080551.2|11|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro615Pro/c.1845T>C|1444|C9orf84|protein_coding|CODING|NM_173521.4|13|1),non_coding_exon_variant(MODIFIER|||n.2182T>C||C9orf84||CODING|NR_109816.1|15|1)",,,,,0.1401,0.196,0.2286,0.21,0.17,0.23,,,,,,,,,,,,,,,,
synonymous_variant,C9orf84,SILENT,NM_173521.4:p.Ala442Ala/c.1326A>C,gcA/gcC,LOW,COSM3763539(1),0.14357,0.0278,rs10512411,,,,,,chr9,114490229,114490229,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala403Ala/c.1209A>C|1405|C9orf84|protein_coding|CODING|NM_001080551.2|9|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala442Ala/c.1326A>C|1444|C9orf84|protein_coding|CODING|NM_173521.4|11|1),non_coding_exon_variant(MODIFIER|||n.1663A>C||C9orf84||CODING|NR_109816.1|13|1)",,,,,0.1401,0.196,0.2286,0.21,0.17,0.23,,,,,,,,,,,,,,,,
missense_variant,C9orf84,MISSENSE,NM_173521.4:p.His416Arg/c.1247A>G,cAt/cGt,MODERATE,,0.827676,0.9266,rs7470491,0.64(T),"0.001,0.001,0.001(B,B,B)",0(N),-1.0169(T),,chr9,114490308,114490308,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His377Arg/c.1130A>G|1405|C9orf84|protein_coding|CODING|NM_001080551.2|9|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His416Arg/c.1247A>G|1444|C9orf84|protein_coding|CODING|NM_173521.4|11|1),non_coding_exon_variant(MODIFIER|||n.1584A>G||C9orf84||CODING|NR_109816.1|13|1)",,,,,0.7924,0.866,0.7883,0.79,0.80,0.78,,0.482765(N),1.000(P),"1.05,1.05,1.05,1.05(T,T,T,T)",0.0000(T),0.002,-2.266479,5.36,-3.13,-1.156000,-0.440000,-0.273000,0.009000,0.000000,0.000000,5.8347
synonymous_variant,SUSD1,SILENT,NM_022486.4:p.Leu739Leu/c.2217C>T,ctC/ctT,LOW,,0.0684904,0.0625,rs3849117,,,,,,chr9,114804173,114804173,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu739Leu/c.2217C>T|747|SUSD1|protein_coding|CODING|NM_022486.4|16|1),3_prime_UTR_variant(MODIFIER||8|c.*8C>T|757|SUSD1|protein_coding|CODING|NM_001282640.1|17|1),3_prime_UTR_variant(MODIFIER||8|c.*8C>T|722|SUSD1|protein_coding|CODING|NM_001282643.1|15|1),intron_variant(MODIFIER|||n.45-45317C>T||MIR3134||NON_CODING|NR_036085.1|3|1)","NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,NHEK:PolII,HeLa-S3:Max,K562:H3K36me3,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:Cjun,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HUVEC:Cmyc,HepG2:H3K36me3,HUVEC:H3K27ac,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.1708,0.0346,0.0815,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,PTBP3,MISSENSE,NM_001244897.1:p.Thr545Ala/c.1633A>G,Aca/Gca,MODERATE,,0.567492,0.3948,rs7855745,,,,,,chr9,114982463,114982463,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr545Ala/c.1633A>G|547|PTBP3|protein_coding|CODING|NM_001244897.1|14|1),3_prime_UTR_variant(MODIFIER||3668|c.*3668A>G|524|PTBP3|protein_coding|CODING|NM_001163788.2|14|1),3_prime_UTR_variant(MODIFIER||3668|c.*3668A>G|555|PTBP3|protein_coding|CODING|NM_001163790.2|15|1),3_prime_UTR_variant(MODIFIER||3668|c.*3668A>G|457|PTBP3|protein_coding|CODING|NM_001244896.1|13|1),3_prime_UTR_variant(MODIFIER||3668|c.*3668A>G|558|PTBP3|protein_coding|CODING|NM_001244898.1|14|1),3_prime_UTR_variant(MODIFIER||3668|c.*3668A>G|552|PTBP3|protein_coding|CODING|NM_005156.6|15|1),intron_variant(MODIFIER|||n.44+112584A>G||MIR3134||NON_CODING|NR_036085.1|3|1)","K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5194,0.4524,0.4722,0.56,0.79,0.46,,,,,,,,,,,,,,,,
missense_variant,PTBP3,MISSENSE,NM_001244897.1:p.Ser516Asn/c.1547G>A,aGt/aAt,MODERATE,,0.567292,0.3948,rs7869523,,,,,,chr9,114982549,114982549,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser516Asn/c.1547G>A|547|PTBP3|protein_coding|CODING|NM_001244897.1|14|1),3_prime_UTR_variant(MODIFIER||3582|c.*3582G>A|524|PTBP3|protein_coding|CODING|NM_001163788.2|14|1),3_prime_UTR_variant(MODIFIER||3582|c.*3582G>A|555|PTBP3|protein_coding|CODING|NM_001163790.2|15|1),3_prime_UTR_variant(MODIFIER||3582|c.*3582G>A|457|PTBP3|protein_coding|CODING|NM_001244896.1|13|1),3_prime_UTR_variant(MODIFIER||3582|c.*3582G>A|558|PTBP3|protein_coding|CODING|NM_001244898.1|14|1),3_prime_UTR_variant(MODIFIER||3582|c.*3582G>A|552|PTBP3|protein_coding|CODING|NM_005156.6|15|1),intron_variant(MODIFIER|||n.44+112498G>A||MIR3134||NON_CODING|NR_036085.1|3|1)","K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5194,0.451,0.4722,0.56,0.79,0.46,,,,,,,,,,,,,,,,
synonymous_variant,SNX30,SILENT,NM_001012994.1:p.Val95Val/c.285T>C,gtT/gtC,LOW,,0.958866,0.999,rs1891402,,,,,,chr9,115567184,115567184,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val95Val/c.285T>C|437|SNX30|protein_coding|CODING|NM_001012994.1|2|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9356,0.9654,0.9095,0.93,0.97,0.91,,,,,,,,,,,,,,,,
synonymous_variant,SNX30,SILENT,NM_001012994.1:p.Leu124Leu/c.372G>C,ctG/ctC,LOW,,0.764577,0.7877,rs10117709,,,,,,chr9,115580008,115580008,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu124Leu/c.372G>C|437|SNX30|protein_coding|CODING|NM_001012994.1|3|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8609,0.7939,0.7932,0.77,0.68,0.80,,,,,,,,,,,,,,,,
synonymous_variant,SNX30,SILENT,NM_001012994.1:p.Ala295Ala/c.885T>C,gcT/gcC,LOW,,0.991813,1,rs7023478,,,,,,chr9,115600848,115600848,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala295Ala/c.885T>C|437|SNX30|protein_coding|CODING|NM_001012994.1|6|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9939,0.9957,0.9682,0.98,1.00,0.97,,,,,,,,,,,,,,,,
synonymous_variant,SLC46A2,SILENT,NM_033051.3:p.Ala27Ala/c.81C>A,gcC/gcA,LOW,COSM3763541(2),0.418131,0.746,rs3802491,,,,,,chr9,115652881,115652881,G,T,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala27Ala/c.81C>A|475|SLC46A2|protein_coding|CODING|NM_033051.3|1|1),"H1ESC:USF1,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4376,0.4798,0.327,0.30,0.21,0.34,,,,,,,,,,,,,,,,
missense_variant,ZFP37,MISSENSE,NM_001282515.1:p.Val7Asp/c.20T>A,gTc/gAc,MODERATE,COSM3982702(1),0.495208,0.5288,rs2282076,0.23(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9904(T),,chr9,115818949,115818949,A,T,het,"missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val7Asp/c.20T>A|645|ZFP37|protein_coding|CODING|NM_001282515.1|1|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val7Asp/c.20T>A|631|ZFP37|protein_coding|CODING|NM_001282518.1|1|1),missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val7Asp/c.20T>A|630|ZFP37|protein_coding|CODING|NM_003408.2|1|1)","H1ESC:PolII,CD4:H2AZ,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:ETS1,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,CD4:H3K79me3,HUVEC:H3K4me2,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,NHEK:H3K27me3,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,K562:Sirt6,CD4:H4K5ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.4857,0.5447,0.5855,0.54,0.43,0.59,,,1.000(P),"3.46,3.33,3.55(T,T,T)",0.0000(T),0.113,-0.855911,3.19,-2.19,-1.249000,-0.892000,-0.583000,0.005000,0.000000,0.000000,0.0361
synonymous_variant,FKBP15,SILENT,NM_015258.1:p.Leu1096Leu/c.3286C>T,Ctg/Ttg,LOW,COSM3982704(1),0.283546,0.1617,rs3810910,,,,,,chr9,115931703,115931703,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1096Leu/c.3286C>T|1219|FKBP15|protein_coding|CODING|NM_015258.1|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2638,0.2954,0.3489,0.32,0.30,0.33,,,,,,,,,,,,,,,,
missense_variant,FKBP15,MISSENSE,NM_015258.1:p.His413Gln/c.1239T>G,caT/caG,MODERATE,,0.526957,0.4345,rs10435864,1(T),"0.0,0.0,0.0(B,B,B)",-2.045(N),-0.9196(T),,chr9,115950706,115950706,A,C,hom,missense_variant(MODERATE|MISSENSE|caT/caG|p.His413Gln/c.1239T>G|1219|FKBP15|protein_coding|CODING|NM_015258.1|13|1),"NHEK:H3K27ac,H1ESC:H3K36me3,IMR90:H2BK120ac,CD4:DNase1,HSMM:H3K27ac,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,IMR90:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,HMEC:DNase1,GM06990:H3K36me3",,,,0.6104,0.5072,0.6024,0.55,0.51,0.58,,,1.000(P),"2.13,2.14,1.72(T,T,T)",0.0000(T),0.052,-0.823904,5.72,3.86,-1.826000,0.378000,0.137000,0.560000,0.998000,0.996000,8.4197
missense_variant,FKBP15,MISSENSE,NM_015258.1:p.Ala106Thr/c.316G>A,Gcc/Acc,MODERATE,COSM4163231(1),0.190096,0.0228,rs1133618,0.69(T),"0.015,0.003,0.007(B,B,B)",0.175(N),-0.9574(T),,chr9,115968797,115968797,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala106Thr/c.316G>A|1219|FKBP15|protein_coding|CODING|NM_015258.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.137,0.2161,0.2078,0.22,0.28,0.19,,,0.988(P),"0.97,0.97,0.97(T,T,T)",0.0000(T),0.058,0.344614,5.71,2.84,0.563000,0.329000,1.143000,0.993000,0.999000,0.899000,6.3222
missense_variant,WDR31,MISSENSE,NM_001012361.2:p.Cys257Ser/c.770G>C,tGt/tCt,MODERATE,COSM3763546(1),0.101837,0.0456,rs41307479,0.73(T),"0.469,0.67(P,P)",2.56(M),-0.9254(T),,chr9,116082647,116082647,C,G,het,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys257Ser/c.770G>C|367|WDR31|protein_coding|CODING|NM_001012361.2|9|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys256Ser/c.767G>C|366|WDR31|protein_coding|CODING|NM_145241.3|9|1)","HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.2025,0.0922,0.1879,0.15,0.05,0.21,,0.000000(D),0.000(P),"3.4,3.4,3.4(T,T,T)",0.0000(T),0.348,4.210103,5.84,5.84,0.551000,2.762000,5.162000,0.995000,1.000000,1.000000,16.2152
missense_variant,BSPRY,MISSENSE,NM_017688.2:p.Gln293His/c.879G>C,caG/caC,MODERATE,COSM3982708(1),0.0601038,0.0734,rs818711,0.01(D),0.006(B),1.04(L),-1.0618(T),,chr9,116132092,116132092,G,C,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln293His/c.879G>C|402|BSPRY|protein_coding|CODING|NM_017688.2|6|1),"K562:H3K4me1,IMR90:H3K27me3",,,,0.1258,0.0476,0.0646,0.04,0.01,0.06,,0.000784(N),0.960(P),2.55(T),0.0015(T),0.044,1.814651,5.54,1.49,0.561000,0.255000,0.918000,0.936000,0.959000,1.000000,4.8002
missense_variant,BSPRY,MISSENSE,NM_017688.2:p.Thr374Ile/c.1121C>T,aCa/aTa,MODERATE,COSM3763547(1),0.125799,0.1448,rs3088235,0.52(T),0.34(B),1.82(L),-1.0689(T),,chr9,116132334,116132334,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr374Ile/c.1121C>T|402|BSPRY|protein_coding|CODING|NM_017688.2|6|1),IMR90:H3K27me3,,,,0.2372,0.0893,0.1799,0.14,0.04,0.19,,0.000124(D),1.000(P),-0.46(T),0.0004(T),0.161,-0.549115,5.69,3.86,0.561000,0.767000,2.875000,0.174000,0.019000,0.029000,8.9651
missense_variant,HDHD3,MISSENSE,NM_031219.2:p.Gly146Glu/c.437G>A,gGg/gAg,MODERATE,COSM4163233(2),0.586861,0.4663,rs1043836,0.98(T),0.001(B),-1.235(N),-0.9914(T),,chr9,116136198,116136198,C,T,hom,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly146Glu/c.437G>A|251|HDHD3|protein_coding|CODING|NM_031219.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7219,0.7017,0.6233,0.60,0.55,0.63,,0.021720(N),1.000(P),"1.2,1.2(T,T)",0.0000(T),0.02,-2.446595,5.86,-11.7,-2.128000,-3.303000,-1.497000,0.043000,0.000000,0.000000,5.1556
splice_donor_variant,C9orf43,protein_coding,NM_001278630.1:c.1226G>A,,HIGH,,0.0523163,0.0625,rs78738447,,,,,C9orf43:1.00(3);,chr9,116191244,116191244,G,A,het,"splice_donor_variant(HIGH|||c.1172G>A|461|C9orf43|protein_coding|CODING|NM_001278629.1|13|1),splice_donor_variant(HIGH|||c.1226G>A|479|C9orf43|protein_coding|CODING|NM_001278630.1|13|1),splice_donor_variant(HIGH|||c.1172G>A|461|C9orf43|protein_coding|CODING|NM_152786.2|13|1),intron_variant(MODIFIER|||c.1171+1G>A|461|C9orf43|protein_coding|CODING|NM_001278629.1|13|1),intron_variant(MODIFIER|||c.1225+1G>A|479|C9orf43|protein_coding|CODING|NM_001278630.1|13|1),intron_variant(MODIFIER|||c.1171+1G>A|461|C9orf43|protein_coding|CODING|NM_152786.2|13|1)",IMR90:H3K27me3,,,,0.0736,0.0504,0.0875,0.06,0.02,0.09,,,0.962(N),,,.,1.046275,4.12,3.17,0.467000,1.236000,1.656000,0.023000,0.040000,0.988000,6.7062
synonymous_variant,RGS3,SILENT,NM_144488.5:p.Asp628Asp/c.1884C>T,gaC/gaT,LOW,,0.0259585,0.002,rs34682731,,,,-1.1024(T),,chr9,116291514,116291514,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp347Asp/c.1041C>T|591|RGS3|protein_coding|CODING|NM_001276261.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp518Asp/c.1554C>T|1088|RGS3|protein_coding|CODING|NM_001282923.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp516Asp/c.1548C>T|602|RGS3|protein_coding|CODING|NM_017790.4|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp347Asp/c.1041C>T|917|RGS3|protein_coding|CODING|NM_130795.3|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp628Asp/c.1884C>T|1198|RGS3|protein_coding|CODING|NM_144488.5|19|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0552,0.0216,0.0547,0.04,0.01,0.06,,,1.000(D),,0.0283(T),.,0.642006,4.96,1.97,-0.355000,0.227000,0.178000,0.973000,1.000000,0.997000,6.8221
missense_variant,RGS3,MISSENSE,NM_144488.5:p.Pro759Leu/c.2276C>T,cCg/cTg,MODERATE,,0.00319489,0,rs140906223,0.2(T),"0.001,0.0,0.001,0.0,0.0,0.0(B,B,B,B,B,B)",-0.345(N),-1.0021(T),,chr9,116345968,116345968,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro80Leu/c.239C>T|519|RGS3|protein_coding|CODING|NM_001276260.1|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro80Leu/c.239C>T|519|RGS3|protein_coding|CODING|NM_001282922.1|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro649Leu/c.1946C>T|1088|RGS3|protein_coding|CODING|NM_001282923.1|18|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro478Leu/c.1433C>T|917|RGS3|protein_coding|CODING|NM_130795.3|11|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro759Leu/c.2276C>T|1198|RGS3|protein_coding|CODING|NM_144488.5|21|1),intron_variant(MODIFIER|||c.1195-7645C>T|591|RGS3|protein_coding|CODING|NM_001276261.1|10|1),intron_variant(MODIFIER|||c.-10-10742C>T|168|RGS3|protein_coding|CODING|NM_134427.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0043,0.008,0.01,0.00,0.01,,0.271901(N),1.000(N),"0.62,0.62,0.13,-0.02,-0.02,-1.23(T,T,T,T,T,T)",0.1216(T),0.165,1.768169,5.08,-4.48,-0.982000,-0.753000,-0.447000,0.000000,0.000000,0.000000,3.2858
synonymous_variant,RGS3,SILENT,NM_144488.5:p.Tyr865Tyr/c.2595C>T,taC/taT,LOW,COSM150681(1),0.169728,0.2103,rs3810927,,,,,,chr9,116346287,116346287,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr186Tyr/c.558C>T|519|RGS3|protein_coding|CODING|NM_001276260.1|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr186Tyr/c.558C>T|519|RGS3|protein_coding|CODING|NM_001282922.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr755Tyr/c.2265C>T|1088|RGS3|protein_coding|CODING|NM_001282923.1|18|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr584Tyr/c.1752C>T|917|RGS3|protein_coding|CODING|NM_130795.3|11|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr865Tyr/c.2595C>T|1198|RGS3|protein_coding|CODING|NM_144488.5|21|1),intron_variant(MODIFIER|||c.1195-7326C>T|591|RGS3|protein_coding|CODING|NM_001276261.1|10|1),intron_variant(MODIFIER|||c.-10-10423C>T|168|RGS3|protein_coding|CODING|NM_134427.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1421,0.2421,0.1869,0.17,0.13,0.18,,,,,,,,,,,,,,,,
synonymous_variant,RGS3,SILENT,NM_144489.3:p.Leu58Leu/c.174G>C,ctG/ctC,LOW,COSM455194(2),0.742212,0.879,rs12350531,,,,,,chr9,116356373,116356373,G,C,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu58Leu/c.174G>C|311|RGS3|protein_coding|CODING|NM_144489.3|1|1),upstream_gene_variant(MODIFIER||61||168|RGS3|protein_coding|CODING|NM_001276262.1||1),intron_variant(MODIFIER|||c.-10-337G>C|168|RGS3|protein_coding|CODING|NM_134427.2|1|1),intron_variant(MODIFIER|||c.1044-337G>C|519|RGS3|protein_coding|CODING|NM_001276260.1|3|1),intron_variant(MODIFIER|||c.1260-337G>C|591|RGS3|protein_coding|CODING|NM_001276261.1|11|1),intron_variant(MODIFIER|||c.1044-337G>C|519|RGS3|protein_coding|CODING|NM_001282922.1|4|1),intron_variant(MODIFIER|||c.2751-337G>C|1088|RGS3|protein_coding|CODING|NM_001282923.1|19|1),intron_variant(MODIFIER|||c.2238-337G>C|917|RGS3|protein_coding|CODING|NM_130795.3|12|1),intron_variant(MODIFIER|||c.3081-337G>C|1198|RGS3|protein_coding|CODING|NM_144488.5|22|1)","H1ESC:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:SP1,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3,HUVEC:FAIRE,HepG2:H3K36me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.7086,0.7637,0.6978,0.68,0.69,0.68,,,,,,,,,,,,,,,,
missense_variant,RGS3,MISSENSE,NM_144489.3:p.Tyr106Cys/c.317A>G,tAc/tGc,MODERATE,COSM4163249(1),0.956869,1,rs12341266,1(T),0.0(B),0(N),-0.9272(T),,chr9,116356516,116356516,A,G,hom,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr106Cys/c.317A>G|311|RGS3|protein_coding|CODING|NM_144489.3|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||168|RGS3|protein_coding|CODING|NM_001276262.1|1|1),5_prime_UTR_variant(MODIFIER||204|c.-61A>G|168|RGS3|protein_coding|CODING|NM_001276262.1|1|1),intron_variant(MODIFIER|||c.-10-194A>G|168|RGS3|protein_coding|CODING|NM_134427.2|1|1),intron_variant(MODIFIER|||c.1044-194A>G|519|RGS3|protein_coding|CODING|NM_001276260.1|3|1),intron_variant(MODIFIER|||c.1260-194A>G|591|RGS3|protein_coding|CODING|NM_001276261.1|11|1),intron_variant(MODIFIER|||c.1044-194A>G|519|RGS3|protein_coding|CODING|NM_001282922.1|4|1),intron_variant(MODIFIER|||c.2751-194A>G|1088|RGS3|protein_coding|CODING|NM_001282923.1|19|1),intron_variant(MODIFIER|||c.2238-194A>G|917|RGS3|protein_coding|CODING|NM_130795.3|12|1),intron_variant(MODIFIER|||c.3081-194A>G|1198|RGS3|protein_coding|CODING|NM_144488.5|22|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.9836,0.9006,0.8817,0.91,0.98,0.88,,,1.000(P),0.29(T),0.0000(T),0.011,-1.897697,4.91,-1.2,-0.989000,0.025000,0.365000,0.002000,0.002000,0.000000,0.5101
missense_variant,RGS3,MISSENSE,NM_144489.3:p.Cys110Trp/c.330C>G,tgC/tgG,MODERATE,COSM4163250(1),0.835863,0.9881,rs10817493,0.09(T),0.0(B),0(N),-0.9872(T),,chr9,116356529,116356529,C,G,hom,"missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys110Trp/c.330C>G|311|RGS3|protein_coding|CODING|NM_144489.3|1|1),5_prime_UTR_variant(MODIFIER||191|c.-48C>G|168|RGS3|protein_coding|CODING|NM_001276262.1|1|1),intron_variant(MODIFIER|||c.-10-181C>G|168|RGS3|protein_coding|CODING|NM_134427.2|1|1),intron_variant(MODIFIER|||c.1044-181C>G|519|RGS3|protein_coding|CODING|NM_001276260.1|3|1),intron_variant(MODIFIER|||c.1260-181C>G|591|RGS3|protein_coding|CODING|NM_001276261.1|11|1),intron_variant(MODIFIER|||c.1044-181C>G|519|RGS3|protein_coding|CODING|NM_001282922.1|4|1),intron_variant(MODIFIER|||c.2751-181C>G|1088|RGS3|protein_coding|CODING|NM_001282923.1|19|1),intron_variant(MODIFIER|||c.2238-181C>G|917|RGS3|protein_coding|CODING|NM_130795.3|12|1),intron_variant(MODIFIER|||c.3081-181C>G|1198|RGS3|protein_coding|CODING|NM_144488.5|22|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.8384,0.8127,0.7376,0.75,0.78,0.73,,,1.000(P),0.27(T),0.0000(T),0.024,-2.721434,5.02,-3.7,-1.109000,-0.367000,0.721000,0.043000,0.009000,0.413000,0.4211
missense_variant,COL27A1,MISSENSE,NM_032888.2:p.Val89Ile/c.265G>A,Gtc/Atc,MODERATE,COSM3763560(1),0.135383,0.001,rs2567707,0.44(T),0.006(B),0.595(N),-0.9347(T),,chr9,116930100,116930100,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val89Ile/c.265G>A|1860|COL27A1|protein_coding|CODING|NM_032888.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.092,0.1427,0.2704,0.23,0.17,0.26,,,1.000(P),"4.43,4.43(T,T)",0.0000(T),0.051,-0.612896,5.32,0.882,-0.439000,0.249000,-0.062000,0.085000,0.011000,0.001000,8.2128
missense_variant,COL27A1,MISSENSE,NM_032888.2:p.Gln120Arg/c.359A>G,cAg/cGg,MODERATE,COSM3763561(2),0.211661,0.1329,rs2567706,1(T),0.0(B),-1.39(N),-0.9507(T),,chr9,116930194,116930194,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln120Arg/c.359A>G|1860|COL27A1|protein_coding|CODING|NM_032888.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1196,0.17,0.2883,0.29,0.31,0.27,,,1.000(P),"4.47,4.47(T,T)",0.0000(T),0.069,0.893086,5.14,2.19,-1.700000,0.213000,0.676000,0.805000,0.997000,0.940000,4.1964
missense_variant,COL27A1,MISSENSE,NM_032888.2:p.Ala422Thr/c.1264G>A,Gca/Aca,MODERATE,COSM150683(2),0.376398,0.5129,rs2241671,1(T),"0.0,0.002(B,B)",-0.895(N),-1.0204(T),,chr9,116931099,116931099,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala422Thr/c.1264G>A|1860|COL27A1|protein_coding|CODING|NM_032888.2|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.32,0.317,0.4304,0.40,0.33,0.43,,,1.000(P),"-2.45,-2.71(D,D)",0.0000(T),0.237,0.977384,4.26,-8.53,-2.761000,-1.614000,-0.604000,0.018000,0.000000,0.000000,1.1229
missense_variant,COL27A1,MISSENSE,NM_032888.2:p.Ile537Thr/c.1610T>C,aTt/aCt,MODERATE,,0.217851,0.1339,rs2808770,0.79(T),"0.0,0.0(B,B)",-0.55(N),-1.0975(T),,chr9,116931445,116931445,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile537Thr/c.1610T>C|1860|COL27A1|protein_coding|CODING|NM_032888.2|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1278,0.183,0.2992,0.29,0.31,0.28,,,1.000(P),"-2.47,-2.72(D,D)",0.0000(T),0.216,0.406695,5.41,4.51,-0.213000,0.670000,0.053000,0.168000,0.709000,0.000000,8.4602
missense_variant,COL27A1,MISSENSE,NM_032888.2:p.Ile611Phe/c.1831A>T,Atc/Ttc,MODERATE,COSM3763562(1),0.290935,0.1151,rs2567705,1(T),"0.0,0.0(B,B)",-1.1(N),-1.0079(T),,chr9,116931666,116931666,A,T,het,missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile611Phe/c.1831A>T|1860|COL27A1|protein_coding|CODING|NM_032888.2|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2454,0.2795,0.4215,0.39,0.38,0.39,,,1.000(P),"-3.92,-2.73(D,D)",0.0000(T),0.31,1.623941,4.66,4.66,-0.364000,0.823000,0.927000,0.682000,0.708000,0.777000,7.5893
synonymous_variant,COL27A1,SILENT,NM_032888.2:p.Gly634Gly/c.1902C>T,ggC/ggT,LOW,COSM3763563(1),0.215256,0.1339,rs2808771,,,,,,chr9,116931737,116931737,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly634Gly/c.1902C>T|1860|COL27A1|protein_coding|CODING|NM_032888.2|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1278,0.183,0.2992,0.29,0.30,0.28,,,,,,,,,,,,,,,,
synonymous_variant,COL27A1,SILENT,NM_032888.2:p.Leu1190Leu/c.3570T>C,ctT/ctC,LOW,,0.390775,0.3175,rs4143245,,,,,,chr9,117033022,117033022,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1190Leu/c.3570T>C|1860|COL27A1|protein_coding|CODING|NM_032888.2|36|1),"GM06990:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3231,0.4942,0.4185,0.40,0.38,0.41,,,,,,,,,,,,,,,,
synonymous_variant,COL27A1,SILENT,NM_032888.2:p.Tyr1262Tyr/c.3786T>C,taT/taC,LOW,,0.854034,1,rs2787330,,,,,,chr9,117044751,117044751,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1262Tyr/c.3786T>C|1860|COL27A1|protein_coding|CODING|NM_032888.2|39|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9305,0.8429,0.7753,0.78,0.76,0.80,,,,,,,,,,,,,,,,
synonymous_variant,COL27A1,SILENT,NM_032888.2:p.Gly1361Gly/c.4083A>G,ggA/ggG,LOW,,0.234225,0.2827,rs1687410,,,,,,chr9,117051020,117051020,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1361Gly/c.4083A>G|1860|COL27A1|protein_coding|CODING|NM_032888.2|43|1),"NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,HUVEC:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HMEC:DNase1,HMEC:H3K4me3,NHEK:DNase1",,,,0.135,0.1988,0.1372,0.20,0.33,0.13,,,,,,,,,,,,,,,,
missense_variant,ORM1,MISSENSE,NM_000607.2:p.Arg38Gln/c.113G>A,cGg/cAg,MODERATE,COSM3847447(2),,,rs147960186,0.38(T),,,-0.9923(T),,chr9,117085526,117085526,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg38Gln/c.113G>A|201|ORM1|protein_coding|CODING|NM_000607.2|1|1),splice_region_variant(LOW|||c.113G>A|201|ORM1|protein_coding|CODING|NM_000607.2|1|1)","HepG2:H3K4me2,GM06990:H3K27me3,HepG2:Nrsf,GM12878:H3K36me3,HepG2:H3K27ac,HepG2:USF1,HepG2:PolII,HepG2:HEY1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,H1ESC:Nrsf,HepG2:TAF1,HepG2:DNase1,K562:Nrsf,HepG2:H3K27me3,HepG2:Yy1,HepG2:Cmyc",,,,,,,,,,,0.011835(N),1.000(P),"3.13,1.49(T,T)",0.0000(T),0.048,1.848571,5.31,-7.61,-0.788000,-1.430000,-1.438000,0.161000,0.001000,0.000000,4.7392
missense_variant,AKNA,MISSENSE,NM_030767.4:p.Ser1303Pro/c.3907T>C,Tct/Cct,MODERATE,COSM4007028(1),0.610224,0.6131,rs2250242,0.38(T),"0.0,0.0(B,B)",-0.805(N),-1.0671(T),,chr9,117103973,117103973,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser1303Pro/c.3907T>C|1439|AKNA|protein_coding|CODING|NM_030767.4|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4213,0.536,0.4841,0.59,0.82,0.48,,0.005639(N),1.000(P),"2.52,2.11,2.52,2.27,2.5(T,T,T,T,T)",0.0000(T),0.058,-0.736344,5.32,0.646,-0.119000,0.042000,-0.029000,0.009000,0.000000,0.002000,4.3501
synonymous_variant,AKNA,SILENT,NM_030767.4:p.Glu755Glu/c.2265G>A,gaG/gaA,LOW,COSM150684(2),0.389976,0.3869,rs3748177,,,,,,chr9,117122202,117122202,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu755Glu/c.2265G>A|1439|AKNA|protein_coding|CODING|NM_030767.4|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.4769,0.508,0.42,0.20,0.53,,,,,,,,,,,,,,,,
missense_variant,AKNA,MISSENSE,NM_030767.4:p.Pro624Leu/c.1871C>T,cCg/cTg,MODERATE,COSM150685(1),0.384185,0.3869,rs3748176,0.79(T),"0.138,0.009(B,B)",1.245(L),-0.9301(T),,chr9,117124731,117124731,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro624Leu/c.1871C>T|1439|AKNA|protein_coding|CODING|NM_030767.4|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5521,0.4798,0.506,0.42,0.19,0.53,,0.443148(N),1.000(P),"1.47,1.47,1.47,1.47,1.47(T,T,T,T,T)",0.0000(T),0.096,1.267287,4.7,-0.371,-0.422000,-0.219000,0.347000,0.003000,0.001000,0.048000,4.4668
missense_variant,DFNB31,MISSENSE,NM_015404.3:p.Val783Ala/c.2348T>C,gTg/gCg,MODERATE,COSM4163263(2),0.40635,0.4742,rs2274159,1(T),"0.0,0.0,0.001(B,B,B)",-1.1(N),-0.9458(T),,chr9,117166246,117166246,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val782Ala/c.2345T>C|906|DFNB31|protein_coding|CODING|NM_001173425.1|10|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val400Ala/c.1199T>C|524|DFNB31|protein_coding|CODING|NM_001083885.2|10|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val783Ala/c.2348T>C|907|DFNB31|protein_coding|CODING|NM_015404.3|10|1)","IMR90:H3K36me3,NHEK:H3K36me3",,RCV000038890.1,,0.499,0.4914,0.4732,0.41,0.24,0.50,,0.019005(N),1.000(P),"4.13,4.11,3.21(T,T,T)",0.0000(T),0.023,-1.148602,5.03,1.09,-0.355000,-0.048000,0.845000,0.624000,0.000000,0.000000,6.5105
missense_variant,DFNB31,MISSENSE,NM_015404.3:p.His752Gln/c.2256C>G,caC/caG,MODERATE,,0.991014,1,rs6478078,1(T),"0.0,0.0(B,B)",-2.255(N),-0.9938(T),,chr9,117166338,117166338,G,C,hom,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His751Gln/c.2253C>G|906|DFNB31|protein_coding|CODING|NM_001173425.1|10|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His369Gln/c.1107C>G|524|DFNB31|protein_coding|CODING|NM_001083885.2|10|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His752Gln/c.2256C>G|907|DFNB31|protein_coding|CODING|NM_015404.3|10|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.9957,1,0.99,0.98,1.00,,0.000000(N),0.000(P),"4.55,4.54,3.73(T,T,T)",0.0000(T),0.298,-1.158952,4.91,4.91,-0.647000,1.090000,4.291000,0.161000,1.000000,1.000000,8.9976
missense_variant,DFNB31,MISSENSE,NM_015404.3:p.Met613Thr/c.1838T>C,aTg/aCg,MODERATE,COSM3774352(1),0.481629,0.503,rs942519,0.56(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9856(T),,chr9,117169033,117169033,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met230Thr/c.689T>C|524|DFNB31|protein_coding|CODING|NM_001083885.2|9|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met613Thr/c.1838T>C|906|DFNB31|protein_coding|CODING|NM_001173425.1|9|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met613Thr/c.1838T>C|907|DFNB31|protein_coding|CODING|NM_015404.3|9|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K36me3",,RCV000038881.2,,0.5675,0.5159,0.5149,0.49,0.39,0.55,,0.053805(N),1.000(P),"4.22,4.2,3.32(T,T,T)",0.0000(T),0.024,-2.069501,4.57,0.0558,-1.383000,-0.207000,1.225000,0.003000,0.000000,0.002000,0.056
synonymous_variant,DFNB31,SILENT,NM_015404.3:p.Gly451Gly/c.1353T>C,ggT/ggC,LOW,COSM4007030(1),0.830072,0.9395,rs4979387,,,,,,chr9,117186677,117186677,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly68Gly/c.204T>C|524|DFNB31|protein_coding|CODING|NM_001083885.2|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly451Gly/c.1353T>C|906|DFNB31|protein_coding|CODING|NM_001173425.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly451Gly/c.1353T>C|907|DFNB31|protein_coding|CODING|NM_015404.3|6|1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,RCV000038868.2,,0.8609,0.8703,0.7256,0.76,0.78,0.75,,,,,,,,,,,,,,,,
missense_variant,DFNB31,MISSENSE,NM_015404.3:p.Arg364His/c.1091G>A,cGt/cAt,MODERATE,,0.977236,1,rs10817610,1(T),0.0(B),-2.36(N),-0.9785(T),,chr9,117188566,117188566,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg364His/c.1091G>A|906|DFNB31|protein_coding|CODING|NM_001173425.1|4|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg364His/c.1091G>A|907|DFNB31|protein_coding|CODING|NM_015404.3|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||524|DFNB31|protein_coding|CODING|NM_001083885.2|4|1),5_prime_UTR_variant(MODIFIER||59|c.-59G>A|524|DFNB31|protein_coding|CODING|NM_001083885.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,RCV000038858.1,,1,0.9942,1,0.98,0.94,1.00,,0.000000(N),0.000(P),2.33(T),0.0000(T),0.362,0.680538,5.05,3.88,-0.361000,0.265000,4.782000,0.958000,0.945000,1.000000,9.6244
synonymous_variant,DFNB31,SILENT,NM_015404.3:p.Val39Val/c.117G>A,gtG/gtA,LOW,COSM3763568(6),0.255591,0.1389,rs2297815,,,,,,chr9,117266965,117266965,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val39Val/c.117G>A|906|DFNB31|protein_coding|CODING|NM_001173425.1|1|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val39Val/c.117G>A|907|DFNB31|protein_coding|CODING|NM_015404.3|1|1),upstream_gene_variant(MODIFIER||1470||524|DFNB31|protein_coding|CODING|NM_001083885.2||1)","NHEK:CTCF,K562:Max,K562:H3K4me3,CD4:H3K18ac,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27me3,HeLa-S3:H3K4me3,HMEC:DNase1,K562:Nrsf,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6,GM12878:Sin3Ak20",,RCV000038862.2,,0.2198,0.3256,0.4016,0.32,0.24,0.37,,,,,,,,,,,,,,,,
synonymous_variant,TNFSF15,SILENT,NM_005118.3:p.Val201Val/c.603A>G,gtA/gtG,LOW,COSM3763572(2),0.711062,0.5069,rs3810936,,,,,,chr9,117552885,117552885,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val142Val/c.426A>G|192|TNFSF15|protein_coding|CODING|NM_001204344.1|2|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val201Val/c.603A>G|251|TNFSF15|protein_coding|CODING|NM_005118.3|4|1)","GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,NH-A:DNase1,HSMM:DNase1",Crohn_s_disease,,,0.6943,0.6988,0.675,0.75,0.88,0.69,,,,,,,,,,,,,,,,
missense_variant,TNC,MISSENSE,NM_002160.3:p.Glu2008Gln/c.6022G>C,Gag/Cag,MODERATE,,0.668131,0.5625,rs13321,1(T),"0.048,0.002(B,B)",-0.375(N),-1.0623(T),,chr9,117792583,117792583,C,G,hom,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu2008Gln/c.6022G>C|2201|TNC|protein_coding|CODING|NM_002160.3|24|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6278,0.6772,0.7207,0.71,0.73,0.70,,0.000001(N),0.938(P),"-1.05,-1.05,-1.05,-1.05,-1.05,-1.05,-1.05,-1.05,-1.05(T,T,T,T,T,T,T,T,T)",0.0000(T),0.177,0.065080,5.35,5.35,-0.120000,1.405000,6.277000,0.206000,0.950000,1.000000,16.5609
synonymous_variant,TNC,SILENT,NM_002160.3:p.Arg1891Arg/c.5673A>G,agA/agG,LOW,COSM150686(1),0.154353,0.129,rs12347433,0.1(T),,,-1.0228(T),,chr9,117797597,117797597,T,C,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg1891Arg/c.5673A>G|2201|TNC|protein_coding|CODING|NM_002160.3|22|1),"GM12878:H3K27me3,NH-A:H3K36me3,IMR90:DNase1,HMEC:H3K27ac,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1748,0.1484,0.2793,0.21,0.09,0.27,,0.000084(D),0.000(P),0.4(T),0.0000(T),.,1.365894,5.97,5.97,0.533000,2.274000,3.042000,0.936000,1.000000,1.000000,10.4647
synonymous_variant,TNC,SILENT,NM_002160.3:p.Thr1734Thr/c.5202A>G,acA/acG,LOW,,0.282947,0.1478,rs1061495,,,,-0.9202(T),,chr9,117804544,117804544,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1734Thr/c.5202A>G|2201|TNC|protein_coding|CODING|NM_002160.3|18|1),"NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1196,0.2795,0.2575,0.34,0.49,0.26,,,1.000(P),,0.0000(T),.,-0.707721,6.08,-7.17,-2.708000,-1.139000,0.132000,0.159000,0.591000,0.056000,2.9726
missense_variant,TNC,MISSENSE,NM_002160.3:p.Ile1677Leu/c.5029A>T,Ata/Tta,MODERATE,COSM3763573(1),0.48103,0.4514,rs2104772,,,1.625(L),-0.9225(T),,chr9,117808785,117808785,T,A,het,missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile1677Leu/c.5029A>T|2201|TNC|protein_coding|CODING|NM_002160.3|17|1),"NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3855,0.4755,0.4503,0.48,0.56,0.43,,,0.000(P),,0.0000(T),.,0.367903,5.81,3.42,0.460000,0.435000,0.633000,0.998000,0.997000,0.631000,8.6288
missense_variant,TNC,MISSENSE,NM_002160.3:p.Gln680Arg/c.2039A>G,cAg/cGg,MODERATE,COSM150688(4),0.449681,0.2857,rs1061494,1(T),"0.006,0.002(B,B)",-0.53(N),-0.9145(T),,chr9,117846580,117846580,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln680Arg/c.2039A>G|2201|TNC|protein_coding|CODING|NM_002160.3|4|1),"NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3487,0.5519,0.4423,0.48,0.56,0.44,,0.045439(N),1.000(P),"0.44,0.44,0.44,0.44,0.44,0.44,0.44,0.44,0.44(T,T,T,T,T,T,T,T,T)",0.0000(T),0.063,-0.422463,5.93,1.04,-0.119000,-0.273000,-0.363000,0.958000,0.977000,0.000000,12.0326
missense_variant,TNC,MISSENSE,NM_002160.3:p.Gln539Arg/c.1616A>G,cAg/cGg,MODERATE,,0.947684,0.999,rs1757095,1(T),"0.009,0.0(B,B)",-0.85(N),-0.9208(T),,chr9,117848394,117848394,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln539Arg/c.1616A>G|2201|TNC|protein_coding|CODING|NM_002160.3|3|1),"NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9816,0.9424,0.9404,0.91,0.88,0.93,,0.001609(N),1.000(P),"2.82,2.82,2.82,2.82,2.82,2.82,2.82,2.82,2.82(T,T,T,T,T,T,T,T,T)",0.0000(T),0.078,-2.542243,5.95,0.114,-1.951000,-0.101000,-0.463000,0.043000,0.655000,0.000000,13.3584
synonymous_variant,TNC,SILENT,NM_002160.3:p.Val232Val/c.696A>G,gtA/gtG,LOW,COSM3763576(1),0.45028,0.2857,rs2992147,,,,,,chr9,117849314,117849314,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val232Val/c.696A>G|2201|TNC|protein_coding|CODING|NM_002160.3|3|1),"NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.3497,0.5533,0.4423,0.48,0.56,0.44,,,,,,,,,,,,,,,,
synonymous_variant,TNC,SILENT,NM_002160.3:p.Val92Val/c.276G>A,gtG/gtA,LOW,COSM150690(3),0.446885,0.2837,rs944510,,,,,,chr9,117853022,117853022,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val92Val/c.276G>A|2201|TNC|protein_coding|CODING|NM_002160.3|2|1),"NH-A:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3538,0.5216,0.4463,0.48,0.56,0.44,,,,,,,,,,,,,,,,
synonymous_variant,TNC,SILENT,NM_002160.3:p.Ser65Ser/c.195G>A,tcG/tcA,LOW,,0.0507188,0.0327,rs10982521,,,,,,chr9,117853103,117853103,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser65Ser/c.195G>A|2201|TNC|protein_coding|CODING|NM_002160.3|2|1),"NH-A:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0307,0.0548,0.0567,0.05,0.06,0.05,,,,,,,,,,,,,,,,
missense_variant,DEC1,MISSENSE,NM_017418.2:p.Ala60Val/c.179C>T,gCc/gTc,MODERATE,,0.762181,0.8492,rs2269700,0(D),0.0(B),,-1.0044(T),,chr9,118163563,118163563,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala60Val/c.179C>T|70|DEC1|protein_coding|CODING|NM_017418.2|7|1),NH-A:DNase1,,,,0.7055,0.6009,0.6451,0.70,0.88,0.62,,,1.000(P),0.41(T),0.0000(T),0.009,0.510439,3.85,-1.58,-0.254000,-0.628000,0.236000,0.004000,0.000000,0.000000,0.09
synonymous_variant,PAPPA,SILENT,NM_002581.3:p.Cys327Cys/c.981C>T,tgC/tgT,LOW,COSM3763581(1),0.118011,0.0942,rs12375498,,,,,,chr9,118949998,118949998,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys327Cys/c.981C>T|1627|PAPPA|protein_coding|CODING|NM_002581.3|2|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1125,0.1499,0.2555,0.18,0.06,0.24,,,,,,,,,,,,,,,,
missense_variant,PAPPA,MISSENSE,NM_002581.3:p.Val449Met/c.1345G>A,Gtg/Atg,MODERATE,COSM455239(1),0.000199681,0,rs151114477,0.18(T),0.002(B),-0.345(N),-0.7863(T),,chr9,118950362,118950362,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val449Met/c.1345G>A|1627|PAPPA|protein_coding|CODING|NM_002581.3|2|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0,0,0.001,0.00,0.00,0.00,,0.161483(N),1.000(D),4.63(T),0.0029(T),0.093,1.154914,6.07,-1.37,-1.052000,-0.449000,0.297000,0.742000,0.917000,0.134000,7.0157
missense_variant,PAPPA,MISSENSE,NM_002581.3:p.Ser1224Tyr/c.3671C>A,tCt/tAt,MODERATE,,0.571685,0.6984,rs7020782,0.01(D),"0.029,0.08(B,B)",1.355(L),-0.9515(T),,chr9,119106881,119106881,C,A,het,missense_variant(MODERATE|MISSENSE|tCt/tAt|p.Ser1224Tyr/c.3671C>A|1627|PAPPA|protein_coding|CODING|NM_002581.3|14|1),"H1ESC:H3K27me3,IMR90:H3K36me3",,,,0.6851,0.6412,0.6918,0.58,0.34,0.70,,0.692356(N),1.000(P),"-1.02,-1.02(T,T)",0.0000(T),0.288,1.926786,5.36,2.54,0.655000,0.348000,0.762000,0.951000,0.654000,0.666000,3.5502
synonymous_variant,PAPPA,SILENT,NM_002581.3:p.Asp1601Asp/c.4803T>C,gaT/gaC,LOW,,0.672324,0.6438,rs8456,,,,,,chr9,119158814,119158814,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1601Asp/c.4803T>C|1627|PAPPA|protein_coding|CODING|NM_002581.3|22|1),downstream_gene_variant(MODIFIER||1623|||PAPPA-AS1||NON_CODING|NR_103711.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K4me1,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.773,0.7349,0.6938,0.67,0.58,0.71,,,,,,,,,,,,,,,,
missense_variant,ASTN2,MISSENSE,NM_014010.4:p.Ala823Thr/c.2467G>A,Gca/Aca,MODERATE,,0.0417332,0,rs72765708,,"0.09,0.006,0.006(B,B,B)",-0.345(N),-0.9857(T),,chr9,119491277,119491277,C,T,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala823Thr/c.2467G>A|1288|ASTN2|protein_coding|CODING|NM_014010.4|14|1),IMR90:H3K27me3,,,,0.0429,0.0447,0.1282,0.09,0.03,0.13,,0.000000(D),0.000(P),"-1.72,-1.72,-1.72,-1.72(D,D,D,D)",0.0022(T),0.137,5.527528,5.54,5.54,-0.269000,1.037000,6.143000,0.943000,0.965000,1.000000,13.1401
synonymous_variant,ASTN2,SILENT,NM_014010.4:p.Pro783Pro/c.2349A>G,ccA/ccG,LOW,,0.992412,1,rs7863560,,,,,,chr9,119495697,119495697,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro783Pro/c.2349A>G|1288|ASTN2|protein_coding|CODING|NM_014010.4|13|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ASTN2,SILENT,NM_014010.4:p.Pro443Pro/c.1329G>A,ccG/ccA,LOW,,0.489816,0.748,rs3761845,,,,,,chr9,119770480,119770480,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro443Pro/c.1329G>A|1288|ASTN2|protein_coding|CODING|NM_014010.4|6|1),,,,,0.4673,0.7075,0.5656,0.43,0.20,0.56,,,,,,,,,,,,,,,,
synonymous_variant,ASTN2,SILENT,NM_014010.4:p.Ala153Ala/c.459A>G,gcA/gcG,LOW,,0.964657,0.9891,rs7848630,,,,,,chr9,120053776,120053776,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala153Ala/c.459A>G|1288|ASTN2|protein_coding|CODING|NM_014010.4|2|1),,,,,0.9918,0.9813,0.994,0.97,0.91,0.99,,,,,,,,,,,,,,,,
missense_variant,TLR4,MISSENSE,NM_138554.4:p.Asp299Gly/c.896A>G,gAt/gGt,MODERATE,,0.0599042,0,rs4986790,0.05(D),0.021(B),0.955(L),-1.0936(T),,chr9,120475302,120475302,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp259Gly/c.776A>G|799|TLR4|protein_coding|CODING|NM_003266.3|4|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp299Gly/c.896A>G|839|TLR4|protein_coding|CODING|NM_138554.4|3|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp99Gly/c.296A>G|639|TLR4|protein_coding|CODING|NM_138557.2|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3",,RCV000007040.1|RCV000007041.1|RCV000007042.1,,0.1258,0.0375,0.0567,0.06,0.07,0.06,,0.173107(N),0.000(A),"2.03,2.03(T,T)",0.0039(T),0.261,1.511301,5.78,4.64,-0.256000,1.023000,2.147000,0.002000,0.014000,0.005000,11.7299
missense_variant,TLR4,MISSENSE,NM_138554.4:p.Thr399Ile/c.1196C>T,aCc/aTc,MODERATE,,0.0407348,0,rs4986791,0.07(T),0.066(B),1.185(L),-0.9557(T),,chr9,120475602,120475602,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr359Ile/c.1076C>T|799|TLR4|protein_coding|CODING|NM_003266.3|4|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr399Ile/c.1196C>T|839|TLR4|protein_coding|CODING|NM_138554.4|3|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr199Ile/c.596C>T|639|TLR4|protein_coding|CODING|NM_138557.2|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3",,RCV000007043.1|RCV000086999.1,,0.1166,0.036,0.0577,0.05,0.02,0.06,,0.268996(N),0.000(A),"5.4,5.4(T,T)",0.0005(T),0.244,0.479496,5.7,0.434,-0.175000,-0.179000,-0.130000,0.097000,0.012000,0.000000,5.616
synonymous_variant,BRINP1,SILENT,NM_014618.2:p.Ser691Ser/c.2073A>G,tcA/tcG,LOW,,0.186302,0.004,rs28453,,,,,,chr9,121929575,121929575,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser691Ser/c.2073A>G|761|BRINP1|protein_coding|CODING|NM_014618.2|8|1),H1ESC:H3K36me3,,,,0.0818,0.1124,0.0915,0.20,0.43,0.08,,,,,,,,,,,,,,,,
missense_variant,CDK5RAP2,MISSENSE,NM_018249.5:p.Val1540Leu/c.4618G>C,Gtg/Ctg,MODERATE,,0.753195,0.8591,rs4837768,0.41(T),"0.016,0.006,0.002,0.003,0.055(B,B,B,B,B)",0.175(N),-1.0117(T),,chr9,123170733,123170733,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val1540Leu/c.4618G>C|1814|CDK5RAP2|protein_coding|CODING|NM_001011649.2|31|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val1310Leu/c.3928G>C|1663|CDK5RAP2|protein_coding|CODING|NM_001272039.1|28|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val1540Leu/c.4618G>C|1893|CDK5RAP2|protein_coding|CODING|NM_018249.5|31|1),non_coding_exon_variant(MODIFIER|||n.4887G>C||CDK5RAP2||CODING|NR_073554.1|31|1),non_coding_exon_variant(MODIFIER|||n.4810G>C||CDK5RAP2||CODING|NR_073555.1|31|1),non_coding_exon_variant(MODIFIER|||n.5017G>C||CDK5RAP2||CODING|NR_073556.1|32|1),non_coding_exon_variant(MODIFIER|||n.4890G>C||CDK5RAP2||CODING|NR_073557.1|31|1),non_coding_exon_variant(MODIFIER|||n.4887G>C||CDK5RAP2||CODING|NR_073558.1|31|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000020841.1,,0.8282,0.8429,0.7634,0.70,0.58,0.75,,0.981821(N),1.000(P),"1.52,1.52,1.52,1.52,1.52,1.52(T,T,T,T,T,T)",0.0000(T),0.065,0.382491,5.61,-0.555,-0.345000,0.005000,-0.083000,0.826000,0.112000,0.583000,0.1916
missense_variant,CDK5RAP2,MISSENSE,NM_018249.5:p.Glu289Gln/c.865G>C,Gaa/Caa,MODERATE,,0.801118,0.7123,rs4836822,0.15(T),"0.619,0.015,0.665(P,B,P)",2.075(M),-1.0975(T),,chr9,123291036,123291036,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu289Gln/c.865G>C|1814|CDK5RAP2|protein_coding|CODING|NM_001011649.2|9|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu289Gln/c.865G>C|1663|CDK5RAP2|protein_coding|CODING|NM_001272039.1|9|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu289Gln/c.865G>C|1893|CDK5RAP2|protein_coding|CODING|NM_018249.5|9|1),non_coding_exon_variant(MODIFIER|||n.1057G>C||CDK5RAP2||CODING|NR_073554.1|9|1),non_coding_exon_variant(MODIFIER|||n.1057G>C||CDK5RAP2||CODING|NR_073555.1|9|1),non_coding_exon_variant(MODIFIER|||n.1054G>C||CDK5RAP2||CODING|NR_073556.1|9|1),non_coding_exon_variant(MODIFIER|||n.1057G>C||CDK5RAP2||CODING|NR_073557.1|9|1),non_coding_exon_variant(MODIFIER|||n.1054G>C||CDK5RAP2||CODING|NR_073558.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000020847.1,,0.8691,0.866,0.9374,0.85,0.69,0.93,,0.000067(D),0.004(P),"3.78,3.64,3.74,3.64,0.87(T,T,T,T,T)",0.0000(T),0.154,1.694259,4.91,3.97,0.557000,1.121000,2.527000,0.485000,0.961000,1.000000,12.2205
synonymous_variant,PSMD5,SILENT,NM_005047.3:p.Asp394Asp/c.1182T>C,gaT/gaC,LOW,COSM3763587(1),0.488419,0.4673,rs1060817,,,,,,chr9,123583192,123583192,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp351Asp/c.1053T>C|461|PSMD5|protein_coding|CODING|NM_001270427.1|8|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp394Asp/c.1182T>C|504|PSMD5|protein_coding|CODING|NM_005047.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.727,0.6571,0.5895,0.47,0.23,0.59,,,,,,,,,,,,,,,,
synonymous_variant,PHF19,SILENT,NM_001009936.2:p.Ser181Ser/c.543T>C,agT/agC,LOW,COSM455269(2),0.63778,0.501,rs1056567,,,,,,chr9,123632045,123632045,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser181Ser/c.543T>C|207|PHF19|protein_coding|CODING|NM_001009936.2|5|1),3_prime_UTR_variant(MODIFIER||136|c.*136T>C|130|PHF19|protein_coding|CODING|NM_001286843.1|5|1),upstream_gene_variant(MODIFIER||856||371|PHF19|protein_coding|CODING|NM_001286842.1||1),upstream_gene_variant(MODIFIER||856|||PHF19||CODING|NR_104601.1||1),intron_variant(MODIFIER|||c.522+78T>C|599|PHF19|protein_coding|CODING|NM_001286840.1|5|1),intron_variant(MODIFIER|||c.465+78T>C|580|PHF19|protein_coding|CODING|NM_015651.2|5|1)","K562:PolII,K562:H3K27ac,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K9ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.7761,0.7824,0.6819,0.64,0.58,0.68,,,,,,,,,,,,,,,,
synonymous_variant,TRAF1,SILENT,NM_001190945.1:p.Pro340Pro/c.1020C>T,ccC/ccT,LOW,COSM1459713(2),0.732029,0.7242,rs2239657,,,,,,chr9,123671520,123671520,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro340Pro/c.1020C>T|416|TRAF1|protein_coding|CODING|NM_001190945.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro218Pro/c.654C>T|294|TRAF1|protein_coding|CODING|NM_001190947.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro340Pro/c.1020C>T|416|TRAF1|protein_coding|CODING|NM_005658.4|7|1)","CD4:H4K91ac,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.8016,0.6902,0.6412,0.69,0.75,0.66,,,,,,,,,,,,,,,,
missense_variant,C5,MISSENSE,NM_001735.2:p.Val802Ile/c.2404G>A,Gtt/Att,MODERATE,,0.404752,0.5685,rs17611,0.25(T),0.03(B),0.25(N),-0.9569(T),,chr9,123769200,123769200,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val802Ile/c.2404G>A|1676|C5|protein_coding|CODING|NM_001735.2|19|1),HepG2:H3K36me3,,,,0.6217,0.5,0.4583,0.32,0.09,0.45,,0.064536(N),0.945(P),1.75(T),0.0000(T),0.046,1.399024,5.8,1.06,0.563000,0.277000,0.100000,0.471000,0.986000,0.430000,5.6286
synonymous_variant,C5,SILENT,NM_001735.2:p.Tyr544Tyr/c.1632C>T,taC/taT,LOW,COSM1459729(1),0.405751,0.5724,rs25681,,,,,,chr9,123780005,123780005,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr544Tyr/c.1632C>T|1676|C5|protein_coding|CODING|NM_001735.2|13|1),HepG2:H3K36me3,,,,0.6207,0.5,0.4592,0.32,0.09,0.45,,,,,,,,,,,,,,,,
missense_variant,CNTRL,MISSENSE,NM_007018.4:p.Val56Ile/c.166G>A,Gtt/Att,MODERATE,,0.639577,0.7788,rs10818503,0.21(T),0.001(B),1.03(L),-1.0157(T),,chr9,123850770,123850770,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val56Ile/c.166G>A|2325|CNTRL|protein_coding|CODING|NM_007018.4|1|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,0.8845,0.7421,0.6958,0.57,0.34,0.69,,,1.000(P),"1.8,1.8(T,T)",0.0000(T),0.048,1.676337,6.15,2.62,0.643000,1.360000,0.766000,0.683000,0.128000,0.307000,4.3018
missense_variant,CNTRL,MISSENSE,NM_007018.4:p.Pro216Leu/c.647C>T,cCg/cTg,MODERATE,,0.430911,0.5704,rs10818504,0.03(D),0.75(P),1.15(L),-0.9002(T),,chr9,123860689,123860689,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro216Leu/c.647C>T|2325|CNTRL|protein_coding|CODING|NM_007018.4|5|1),"GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.637,0.4957,0.4503,0.35,0.18,0.44,,,0.000(P),"0.56,0.56(T,T)",0.0000(T),0.098,4.018530,5.62,4.73,-0.119000,1.382000,1.322000,0.975000,0.998000,0.989000,13.8885
missense_variant,CNTRL,MISSENSE,NM_007018.4:p.Leu422Val/c.1264C>G,Ctt/Gtt,MODERATE,,0.0119808,0,rs77083332,0.28(T),"0.052,0.034(B,B)",1.935(M),-1.0368(T),,chr9,123875921,123875921,C,G,het,missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu422Val/c.1264C>G|2325|CNTRL|protein_coding|CODING|NM_007018.4|8|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0403,0.0288,0.03,0.01,0.03,,,1.000(N),"1.76,1.76(T,T)",0.0194(T),0.061,2.624928,6.16,3.38,0.650000,0.499000,0.735000,0.678000,0.013000,0.001000,4.7541
synonymous_variant,CNTRL,SILENT,NM_007018.4:p.Val1398Val/c.4194T>A,gtT/gtA,LOW,,0.432109,0.5694,rs3736855,,,,,,chr9,123917020,123917020,T,A,het,synonymous_variant(LOW|SILENT|gtT/gtA|p.Val1398Val/c.4194T>A|2325|CNTRL|protein_coding|CODING|NM_007018.4|25|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.6401,0.5,0.4513,0.35,0.18,0.44,,,,,,,,,,,,,,,,
missense_variant,TTLL11,MISSENSE,NM_001139442.1:p.Ala163Thr/c.487G>A,Gct/Act,MODERATE,COSM3750147(13),0.246805,0.0645,rs61742319,,"0.005,0.002(B,B)",0.345(N),-0.9008(T),,chr9,124855211,124855211,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala163Thr/c.487G>A|800|TTLL11|protein_coding|CODING|NM_001139442.1|1|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala163Thr/c.487G>A|538|TTLL11|protein_coding|CODING|NM_194252.2|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HeLa-S3:Nrsf,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,K562:Nrsf,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.1564,0.3271,0.3012,0.27,0.33,0.25,,0.000031(U),0.001(P),"3.47,3.32(T,T)",0.0000(T),0.034,0.608368,4.73,-3.49,-0.502000,-0.487000,0.583000,0.146000,0.781000,0.133000,5.0877
synonymous_variant,NDUFA8,SILENT,NM_014222.2:p.Glu42Glu/c.126G>A,gaG/gaA,LOW,COSM1459793(3),0.337859,0.2014,rs4679,,,,,,chr9,124914613,124914613,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu42Glu/c.126G>A|172|NDUFA8|protein_coding|CODING|NM_014222.2|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5133,0.3689,0.6074,0.46,0.16,0.61,,,,,,,,,,,,,,,,
missense_variant,PTGS1,MISSENSE,NM_000962.3:p.Trp8Arg/c.22T>C,Tgg/Cgg,MODERATE,,0.940895,0.9911,rs1236913,0.38(T),"0.0,0.0(B,B)",0.55(N),-0.9677(T),,chr9,125133479,125133479,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp8Arg/c.22T>C|599|PTGS1|protein_coding|CODING|NM_000962.3|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp8Arg/c.22T>C|551|PTGS1|protein_coding|CODING|NM_001271164.1|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp8Arg/c.22T>C|562|PTGS1|protein_coding|CODING|NM_080591.2|2|1),5_prime_UTR_variant(MODIFIER||7349|c.-306T>C|453|PTGS1|protein_coding|CODING|NM_001271166.1|2|1),5_prime_UTR_variant(MODIFIER||7349|c.-277T>C|453|PTGS1|protein_coding|CODING|NM_001271367.1|2|1),5_prime_UTR_variant(MODIFIER||616|c.-276T>C|537|PTGS1|protein_coding|CODING|NM_001271368.1|2|1)","K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K27me3,HMEC:DNase1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.8211,0.9308,0.9443,0.95,0.98,0.93,,0.162150(N),1.000(P),"0.95,0.59,2.53(T,T,T)",0.0000(T),0.261,-1.170496,3.31,0.385,-1.043000,-0.146000,-0.724000,0.001000,0.001000,0.000000,6.506
splice_acceptor_variant,PTGS1,protein_coding,NM_001271367.1:c.1G>A,,HIGH,,0.117612,0.0665,rs3842788,,,,,PTGS1:0.14(7);,chr9,125140206,125140206,G,A,het,"splice_acceptor_variant(HIGH|||c.1G>A|453|PTGS1|protein_coding|CODING|NM_001271367.1|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln41Gln/c.123G>A|599|PTGS1|protein_coding|CODING|NM_000962.3|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln41Gln/c.123G>A|551|PTGS1|protein_coding|CODING|NM_001271164.1|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln16Gln/c.48G>A|537|PTGS1|protein_coding|CODING|NM_001271368.1|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln41Gln/c.123G>A|562|PTGS1|protein_coding|CODING|NM_080591.2|3|1),5_prime_UTR_variant(MODIFIER||622|c.-205G>A|490|PTGS1|protein_coding|CODING|NM_001271165.1|2|1),5_prime_UTR_variant(MODIFIER||622|c.-205G>A|453|PTGS1|protein_coding|CODING|NM_001271166.1|3|1),intron_variant(MODIFIER|||c.-204-1G>A|453|PTGS1|protein_coding|CODING|NM_001271367.1|2|1)","HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0429,0.0346,0.0378,0.10,0.25,0.02,,,,,,,,,,,,,,,,
missense_variant,OR1J1,MISSENSE,NM_001004451.1:p.Asn318Ser/c.953A>G,aAc/aGc,MODERATE,,0.65615,0.7956,rs1962091,1(T),0.0(B),0.345(N),-0.9322(T),,chr9,125239253,125239253,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn318Ser/c.953A>G|322|OR1J1|protein_coding|CODING|NM_001004451.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.5685,0.4741,0.4602,0.56,0.81,0.44,,,1.000(P),2.93(T),0.0000(T),0.001,-2.581610,0.638,-1.28,-1.160000,-1.705000,-2.309000,0.047000,0.000000,0.000000,.
synonymous_variant,OR1N1,SILENT,NM_012363.1:p.Leu164Leu/c.490T>C,Ttg/Ctg,LOW,,0.390575,0.505,rs16911867,,,,,,chr9,125289083,125289083,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu164Leu/c.490T>C|311|OR1N1|protein_coding|CODING|NM_012363.1|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3773,0.3876,0.3231,0.32,0.36,0.30,,,,,,,,,,,,,,,,
missense_variant,OR1N1,MISSENSE,NM_012363.1:p.Pro18Ser/c.52C>T,Cct/Tct,MODERATE,COSM3763597(1),0.708466,0.87,rs10818708,0.17(T),0.0(B),-0.57(N),-1.0333(T),,chr9,125289521,125289521,G,A,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro18Ser/c.52C>T|311|OR1N1|protein_coding|CODING|NM_012363.1|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.7086,0.5908,0.4781,0.57,0.78,0.46,,0.276772(N),1.000(P),3.75(T),0.0000(T),0.044,0.607534,3.89,-1.86,-0.407000,-0.454000,-4.505000,0.011000,0.000000,0.000000,0.5119
missense_variant,OR1N2,MISSENSE,NM_001004457.1:p.Phe194Leu/c.580T>C,Ttc/Ctc,MODERATE,COSM3763598(1),0.0493211,0.002,rs41297203,0(D),0.996(D),1.885(L),-0.4114(T),,chr9,125316028,125316028,T,C,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe194Leu/c.580T>C|330|OR1N2|protein_coding|CODING|NM_001004457.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0143,0.0562,0.0934,0.09,0.07,0.10,,0.000143(D),0.885(P),8.01(T),0.0001(T),0.203,3.378882,4.41,4.41,0.524000,1.869000,0.634000,0.943000,0.878000,0.001000,12.917
missense_variant,OR1N2,MISSENSE,NM_001004457.1:p.Val244Gly/c.731T>G,gTc/gGc,MODERATE,,0.837061,0.997,rs1341044,0.42(T),0.0(B),-1.28(N),-0.9299(T),,chr9,125316179,125316179,T,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val244Gly/c.731T>G|330|OR1N2|protein_coding|CODING|NM_001004457.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8149,0.7752,0.7117,0.75,0.84,0.70,,0.094177(N),1.000(P),8.79(T),0.0000(T),0.023,0.778783,4.56,3.65,-0.132000,0.551000,-0.440000,0.803000,0.011000,0.000000,5.9984
missense_variant,OR1N2,MISSENSE,NM_001004457.1:p.Thr301Met/c.902C>T,aCg/aTg,MODERATE,COSM150701(2),0.591653,0.6667,rs1411272,1(T),0.001(B),-0.85(N),-0.9281(T),,chr9,125316350,125316350,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr301Met/c.902C>T|330|OR1N2|protein_coding|CODING|NM_001004457.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.4959,0.5994,0.5457,0.56,0.62,0.53,,0.000020(N),1.000(P),1.26(T),0.0000(T),0.072,-0.755023,4.56,4.56,-0.268000,0.800000,3.075000,0.841000,1.000000,0.924000,9.4731
missense_variant,OR1L8,MISSENSE,NM_001004454.1:p.Arg211Pro/c.632G>C,cGt/cCt,MODERATE,,0.722444,0.9841,rs10739614,1(T),0.0(B),-3.915(N),-0.9618(T),,chr9,125330125,125330125,C,G,het,missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg211Pro/c.632G>C|309|OR1L8|protein_coding|CODING|NM_001004454.1|1|1),HeLa-S3:H3K27me3,,,,0.6196,0.6513,0.6143,0.64,0.70,0.60,,0.000360(N),1.000(P),2.04(T),0.0000(T),0.096,-2.493135,4.49,3.6,-2.755000,0.678000,0.231000,0.110000,0.008000,0.000000,10.7988
synonymous_variant,OR1L8,SILENT,NM_001004454.1:p.Ser191Ser/c.573T>G,tcT/tcG,LOW,COSM3763599(1),0.48103,0.8056,rs10985702,,,,,,chr9,125330184,125330184,A,C,het,synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser191Ser/c.573T>G|309|OR1L8|protein_coding|CODING|NM_001004454.1|1|1),HeLa-S3:H3K27me3,,,,0.3988,0.4135,0.3221,0.35,0.44,0.30,,,,,,,,,,,,,,,,
missense_variant,OR1Q1,MISSENSE,NM_012364.1:p.Gln24Arg/c.71A>G,cAa/cGa,MODERATE,,0.822684,0.9444,rs386624528,0.03(D),0.007(B),1.84(L),-0.9812(T),,chr9,125377087,125377087,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln24Arg/c.71A>G|314|OR1Q1|protein_coding|CODING|NM_012364.1|1|1),HUVEC:H3K27me3,,,,0.9479,0.8573,0.8141,0.77,0.67,0.82,,0.007044(N),1.000(P),6.33(T),0.0000(T),0.045,1.362570,5.43,2.94,-1.088000,0.144000,2.624000,0.848000,0.046000,0.053000,9.5462
missense_variant,OR1Q1,MISSENSE,NM_012364.1:p.Ile163Met/c.489A>G,atA/atG,MODERATE,,0.881789,0.9494,rs1329957,1(T),0.001(B),-0.35(N),-0.9228(T),,chr9,125377505,125377505,A,G,hom,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile163Met/c.489A>G|314|OR1Q1|protein_coding|CODING|NM_012364.1|1|1),HUVEC:H3K27me3,,,,0.9673,0.9323,0.9245,0.87,0.75,0.93,,0.000359(N),1.000(P),8.72(T),0.0000(T),0.042,-2.621630,5.57,5.57,-0.128000,1.608000,-1.045000,0.019000,0.740000,0.000000,7.5273
missense_variant,OR1B1,MISSENSE,NM_001004450.1:p.Val314Gly/c.941T>G,gTg/gGg,MODERATE,,0.821486,0.9514,rs1556189,0.3(T),0.0(B),0.205(N),-1.0656(T),,chr9,125390874,125390874,A,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val314Gly/c.941T>G|318|OR1B1|protein_coding|CODING|NM_001004450.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9397,0.8487,0.7962,0.76,0.68,0.81,,0.364460(N),1.000(P),1.25(T),0.0000(T),0.018,0.039828,4.74,-0.41,-0.139000,-0.177000,-2.036000,0.015000,0.000000,0.000000,4.1263
missense_variant,OR1B1,MISSENSE,NM_001004450.1:p.Cys263Trp/c.789T>G,tgT/tgG,MODERATE,,0.752196,0.9375,rs1476858,0(D),0.0(B),0.86(L),-0.8475(T),,chr9,125391026,125391026,A,C,hom,missense_variant(MODERATE|MISSENSE|tgT/tgG|p.Cys263Trp/c.789T>G|318|OR1B1|protein_coding|CODING|NM_001004450.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9274,0.7651,0.7913,0.71,0.53,0.80,,0.018196(N),0.546(P),8.74(T),0.0000(T),0.057,1.153494,4.72,2.82,-0.139000,0.278000,-1.146000,0.924000,0.921000,0.000000,8.6459
missense_variant,OR1B1,MISSENSE,NM_001004450.1:p.Ala230Thr/c.688G>A,Gct/Act,MODERATE,COSM3763603(1),0.388978,0.7917,rs1476859,0.44(T),0.078(B),-0.015(N),-1.0233(T),,chr9,125391127,125391127,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala230Thr/c.688G>A|318|OR1B1|protein_coding|CODING|NM_001004450.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4683,0.4885,0.2763,0.23,0.09,0.30,,0.000348(N),1.000(P),8.59(T),0.0000(T),0.026,-1.211780,4.72,3.58,-0.288000,0.398000,-1.675000,0.188000,0.289000,0.000000,7.3753
stop_gained,OR1B1,NONSENSE,NM_001004450.1:p.Arg192*/c.574C>T,Cga/Tga,HIGH,COSM3763604(1),0.339257,0.5972,rs1476860,0.19(T),,,,,chr9,125391241,125391241,G,A,het,stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg192*/c.574C>T|318|OR1B1|protein_coding|CODING|NM_001004450.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4335,0.4683,0.2763,0.23,0.09,0.30,,0.287663(N),0.000(P),,,.,3.187345,4.63,-6.05,-1.636000,-0.973000,-1.276000,0.799000,0.142000,0.000000,7.8675
missense_variant,OR1B1,MISSENSE,NM_001004450.1:p.Leu149Ser/c.446T>C,tTg/tCg,MODERATE,COSM4163303(1),0.641374,0.6409,rs1536929,0.08(T),0.006(B),0.595(N),-1.0071(T),,chr9,125391369,125391369,A,G,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu149Ser/c.446T>C|318|OR1B1|protein_coding|CODING|NM_001004450.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8701,0.5965,0.7207,0.66,0.51,0.73,,0.262921(N),1.000(P),1.07(T),0.0000(T),0.081,-1.475677,4.26,1.96,-0.262000,0.787000,0.040000,0.038000,0.007000,0.000000,6.8619
synonymous_variant,OR1B1,SILENT,NM_001004450.1:p.Leu136Leu/c.406T>C,Ttg/Ctg,LOW,COSM3763605(2),0.410144,0.3403,rs1536928,,,,,,chr9,125391409,125391409,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu136Leu/c.406T>C|318|OR1B1|protein_coding|CODING|NM_001004450.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4949,0.2954,0.504,0.48,0.43,0.50,,,,,,,,,,,,,,,,
synonymous_variant,OR1B1,SILENT,NM_001004450.1:p.Thr46Thr/c.138A>G,acA/acG,LOW,COSM455304(2),0.265575,0.3175,rs12347681,,,,,,chr9,125391677,125391677,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr46Thr/c.138A>G|318|OR1B1|protein_coding|CODING|NM_001004450.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3885,0.3674,0.2256,0.20,0.12,0.24,,,,,,,,,,,,,,,,
synonymous_variant,OR1L1,SILENT,NM_001005236.3:p.Ser171Ser/c.513A>C,tcA/tcC,LOW,COSM3763606(1),0.44988,0.5089,rs70156,,,,,,chr9,125424507,125424507,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser171Ser/c.513A>C|310|OR1L1|protein_coding|CODING|NM_001005236.3|1|1),"HUVEC:H3K27me3,K562:H3K27me3",,,,0.3446,0.3213,0.2147,0.35,0.65,0.20,,,,,,,,,,,,,,,,
missense_variant,OR1L4,MISSENSE,NM_001005235.1:p.Gly234Arg/c.700G>A,Ggg/Agg,MODERATE,,0.852835,0.9306,rs2215530,0.03(D),0.141(B),2.79(M),-0.9026(T),,chr9,125486968,125486968,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly234Arg/c.700G>A|311|OR1L4|protein_coding|CODING|NM_001005235.1|1|1),"H1ESC:H3K9me3,HeLa-S3:H3K27me3",,,,0.9571,0.938,0.9414,0.85,0.63,0.96,,0.001611(N),1.000(P),8.25(T),0.0000(T),0.072,1.516528,4.07,2.22,0.298000,0.391000,0.949000,0.711000,0.139000,0.585000,9.7801
missense_variant,OR1L6,MISSENSE,NM_001004453.2:p.Gln23Lys/c.67C>A,Cag/Aag,MODERATE,COSM4163306(1),0.914537,0.999,rs10760252,0.1(T),0.032(B),0.595(N),-1.0177(T),,chr9,125512193,125512193,C,A,hom,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln23Lys/c.67C>A|311|OR1L6|protein_coding|CODING|NM_001004453.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9652,0.9568,0.9414,0.91,0.80,0.97,,0.481365(N),1.000(P),"7.45,7.45(T,T)",0.0000(T),0.038,1.102050,4.35,1.08,0.655000,0.515000,-2.244000,0.930000,0.093000,0.000000,2.389
missense_variant,OR1L6,MISSENSE,NM_001004453.2:p.Cys150Tyr/c.449G>A,tGc/tAc,MODERATE,,0.902756,0.999,rs4838012,0.01(D),0.999(D),-0.995(N),-0.9412(T),,chr9,125512575,125512575,G,A,hom,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys150Tyr/c.449G>A|311|OR1L6|protein_coding|CODING|NM_001004453.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9652,0.9597,0.9414,,,,,0.000453(D),0.837(P),"1.3,1.3(T,T)",0.0000(T),0.413,2.514591,4.62,4.62,0.655000,2.557000,0.288000,0.862000,1.000000,0.001000,12.4154
missense_variant,OR1L6,MISSENSE,NM_001004453.2:p.Ile215Thr/c.644T>C,aTc/aCc,MODERATE,COSM4163307(2),0.881789,0.999,rs10985760,0.01(D),0.673(P),1.76(L),-0.8929(T),,chr9,125512770,125512770,T,C,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile215Thr/c.644T>C|311|OR1L6|protein_coding|CODING|NM_001004453.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.956,0.9568,0.9394,,,,,0.000034(D),1.000(P),"8.16,8.16(T,T)",0.0000(T),0.361,2.502421,4.53,3.39,0.482000,0.882000,3.887000,0.974000,0.988000,0.409000,5.9239
missense_variant,OR1L6,MISSENSE,NM_001004453.2:p.Arg221Gln/c.662G>A,cGa/cAa,MODERATE,COSM4163308(1),0.875399,0.999,rs10818740,0.65(T),0.061(B),1.5(L),-0.7555(T),,chr9,125512788,125512788,G,A,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg221Gln/c.662G>A|311|OR1L6|protein_coding|CODING|NM_001004453.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9519,0.951,0.9334,,,,,0.200720(N),1.000(P),"8.89,8.89(T,T)",0.0000(T),0.122,0.767052,4.62,-1.57,-0.119000,-0.170000,-2.981000,0.663000,0.025000,0.000000,5.8321
missense_variant,OR1L6,MISSENSE,NM_001004453.2:p.Met223Ile/c.669G>C,atG/atC,MODERATE,COSM4163309(1),0.876997,0.999,rs10818741,0.36(T),0.0(B),-1.68(N),-0.8278(T),,chr9,125512795,125512795,G,C,hom,missense_variant(MODERATE|MISSENSE|atG/atC|p.Met223Ile/c.669G>C|311|OR1L6|protein_coding|CODING|NM_001004453.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.953,0.951,0.9344,,,,,0.000871(N),1.000(P),"8.94,8.94(T,T)",0.0000(T),0.079,-2.347169,4.62,0.628,-0.736000,-0.183000,-2.809000,0.437000,0.024000,0.000000,5.2951
missense_variant,OR1L6,MISSENSE,NM_001004453.2:p.Gly234Arg/c.700G>A,Ggg/Agg,MODERATE,,0.869609,0.9335,rs28670025,0.03(D),0.196(B),2.74(M),-0.8628(T),,chr9,125512826,125512826,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly234Arg/c.700G>A|311|OR1L6|protein_coding|CODING|NM_001004453.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9642,0.9438,0.9404,,,,,0.001611(N),0.008(P),"8.25,8.25(T,T)",0.0000(T),0.422,2.441179,4.62,3.72,0.655000,1.303000,1.454000,0.983000,0.826000,0.929000,12.0052
synonymous_variant,STRBP,SILENT,NM_018387.4:p.Gly320Gly/c.960C>T,ggC/ggT,LOW,,0.483027,0.2798,rs386614955,,,,,,chr9,125920376,125920376,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly306Gly/c.918C>T|658|STRBP|protein_coding|CODING|NM_001171137.1|11|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly320Gly/c.960C>T|672|STRBP|protein_coding|CODING|NM_018387.4|11|1),non_coding_exon_variant(MODIFIER|||n.1315C>T||STRBP||CODING|NR_033234.1|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8272,0.5461,0.8529,0.63,0.18,0.86,,,,,,,,,,,,,,,,
missense_variant,CRB2,MISSENSE,NM_173689.6:p.Thr90Asn/c.269C>A,aCc/aAc,MODERATE,COSM3763614(2),0.997005,1,rs2808415,1(T),"0.0,0.0(B,B)",-0.685(N),-0.9024(T),,chr9,126125318,126125318,C,A,hom,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr90Asn/c.269C>A|1285|CRB2|protein_coding|CODING|NM_173689.6|2|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,0.185883(N),1.000(P),"-2.92,-2.34(D,D)",0.0000(T),0.009,-2.112919,4.7,-8.1,-1.455000,-2.003000,-0.229000,0.007000,0.000000,0.002000,12.972
missense_variant,CRB2,MISSENSE,NM_173689.6:p.Met145Thr/c.434T>C,aTg/aCg,MODERATE,COSM3750149(3),0.375399,0.4107,rs1105223,0.82(T),"0.0,0.0(B,B)",-1.28(N),-1.0915(T),,chr9,126128211,126128211,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met145Thr/c.434T>C|1285|CRB2|protein_coding|CODING|NM_173689.6|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3548,0.3516,0.3817,0.37,0.35,0.38,,0.284455(N),1.000(P),"-1.26,-1.26(T,T)",0.0000(T),0.037,-1.062689,4.79,-0.624,-0.380000,-0.849000,-0.472000,0.239000,0.002000,0.000000,3.6393
missense_variant,CRB2,MISSENSE,NM_173689.6:p.Gly159Ala/c.476G>C,gGc/gCc,MODERATE,COSM455327(10),0.315895,0.3889,rs1105222,0.65(T),"0.397,0.509(B,P)",0.885(L),-1.1325(T),,chr9,126128253,126128253,G,C,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly159Ala/c.476G>C|1285|CRB2|protein_coding|CODING|NM_173689.6|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3292,0.3314,0.3728,0.31,0.21,0.36,,0.000256(D),0.000(P),"-3.97,-3.97(D,D)",0.0000(T),0.25,2.914538,4.79,4.79,0.448000,2.186000,1.278000,0.786000,1.000000,0.953000,11.2646
synonymous_variant,CRB2,SILENT,NM_173689.6:p.Asn331Asn/c.993C>T,aaC/aaT,LOW,COSM3763616(1),0.283946,0.38,rs10818812,,,,,,chr9,126129904,126129904,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn331Asn/c.993C>T|1285|CRB2|protein_coding|CODING|NM_173689.6|6|1),upstream_gene_variant(MODIFIER||1154|||CRB2||CODING|NR_104603.1||1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3282,0.3228,0.3767,0.28,0.11,0.37,,,,,,,,,,,,,,,,
synonymous_variant,CRB2,SILENT,NM_173689.6:p.Ala529Ala/c.1587G>A,gcG/gcA,LOW,,0.197684,0.252,rs33984675,,,,,,chr9,126132919,126132919,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala529Ala/c.1587G>A|1285|CRB2|protein_coding|CODING|NM_173689.6|7|1),non_coding_exon_variant(MODIFIER|||n.701G>A||CRB2||CODING|NR_104603.1|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2648,0.1758,0.2753,0.24,0.09,0.31,,,,,,,,,,,,,,,,
synonymous_variant,CRB2,SILENT,NM_173689.6:p.Ser692Ser/c.2076C>T,tcC/tcT,LOW,,0.195887,0.254,rs13290763,,,,,,chr9,126133497,126133497,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser692Ser/c.2076C>T|1285|CRB2|protein_coding|CODING|NM_173689.6|8|1),non_coding_exon_variant(MODIFIER|||n.1190C>T||CRB2||CODING|NR_104603.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2658,0.1729,0.2734,0.24,0.08,0.31,,,,,,,,,,,,,,,,
missense_variant,CRB2,MISSENSE,NM_173689.6:p.Val709Ala/c.2126T>C,gTg/gCg,MODERATE,,0.996605,1,rs2488602,0.61(T),"0.001,0.004(B,B)",0.55(N),-1.0339(T),,chr9,126133547,126133547,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val709Ala/c.2126T>C|1285|CRB2|protein_coding|CODING|NM_173689.6|8|1),non_coding_exon_variant(MODIFIER|||n.1240T>C||CRB2||CODING|NR_104603.1|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,0.558749(N),1.000(P),"-1.34,-1.34,-1.34(T,T,T)",0.0000(T),0.017,-2.397466,4.4,-6.22,-0.981000,-1.919000,-2.337000,0.004000,0.000000,0.000000,10.1269
synonymous_variant,CRB2,SILENT,NM_173689.6:p.Thr841Thr/c.2523G>A,acG/acA,LOW,COSM3763618(3),0.329073,0.377,rs61740213,,,,,,chr9,126134542,126134542,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr841Thr/c.2523G>A|1285|CRB2|protein_coding|CODING|NM_173689.6|9|1),non_coding_exon_variant(MODIFIER|||n.1637G>A||CRB2||CODING|NR_104603.1|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3814,0.3963,0.5298,0.40,0.12,0.54,,,,,,,,,,,,,,,,
missense_variant,CRB2,MISSENSE,NM_173689.6:p.Gly894Ser/c.2680G>A,Ggc/Agc,MODERATE,,0.00878594,0,rs144714250,0.45(T),"0.0,0.001(B,B)",-0.425(N),-1.0756(T),,chr9,126135490,126135490,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly894Ser/c.2680G>A|1285|CRB2|protein_coding|CODING|NM_173689.6|10|1),non_coding_exon_variant(MODIFIER|||n.1794G>A||CRB2||CODING|NR_104603.1|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0133,0.0086,0.0199,0.01,0.00,0.02,,0.364648(N),1.000(N),"-0.32,-0.32,-0.32(T,T,T)",0.0461(T),0.049,-1.176907,3.91,-5.65,0.195000,-0.895000,0.122000,0.042000,0.001000,0.000000,3.7042
missense_variant,CRB2,MISSENSE,NM_173689.6:p.Thr969Ala/c.2905A>G,Acc/Gcc,MODERATE,,0.976238,1,rs2488601,0.53(T),"0.0,0.0(B,B)",-1.61(N),-0.9787(T),,chr9,126135715,126135715,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr969Ala/c.2905A>G|1285|CRB2|protein_coding|CODING|NM_173689.6|10|1),non_coding_exon_variant(MODIFIER|||n.2019A>G||CRB2||CODING|NR_104603.1|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9957,1,0.98,0.93,1.00,,0.860551(N),1.000(P),"-2.05,-1.96,-2.61(D,D,D)",0.0000(T),0.044,-2.243394,3.63,1.35,-2.954000,0.092000,-0.362000,0.004000,0.001000,0.000000,3.8071
synonymous_variant,DENND1A,SILENT,NM_020946.1:p.Gly665Gly/c.1995A>G,ggA/ggG,LOW,COSM4163318(1),0.978235,0.999,rs2491348,,,,,,chr9,126144746,126144746,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly665Gly/c.1995A>G|1009|DENND1A|protein_coding|CODING|NM_020946.1|22|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9957,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DENND1A,SILENT,NM_020946.1:p.Ser661Ser/c.1983A>G,tcA/tcG,LOW,COSM4163321(1),0.998003,1,rs2808409,,,,,,chr9,126144758,126144758,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser661Ser/c.1983A>G|1009|DENND1A|protein_coding|CODING|NM_020946.1|22|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LHX2,SILENT,NM_004789.3:p.Pro261Pro/c.783G>C,ccG/ccC,LOW,,0.359026,0.4286,rs1042486,,,,-0.9986(T),,chr9,126783433,126783433,G,C,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro261Pro/c.783G>C|406|LHX2|protein_coding|CODING|NM_004789.3|4|1),"GM12878:Pax5,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.3569,0.4712,0.4433,0.38,0.24,0.45,,,0.000(P),,0.0000(T),.,1.268589,5.39,-3.77,0.561000,-1.288000,0.039000,0.955000,0.880000,0.881000,12.2133
synonymous_variant,NEK6,SILENT,NM_001145001.2:p.Leu267Leu/c.799C>T,Ctg/Ttg,LOW,,0.921526,1,rs10760354,,,,,,chr9,127101924,127101924,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu267Leu/c.799C>T|347|NEK6|protein_coding|CODING|NM_001145001.2|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu251Leu/c.751C>T|331|NEK6|protein_coding|CODING|NM_001166167.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu233Leu/c.697C>T|313|NEK6|protein_coding|CODING|NM_001166168.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu258Leu/c.772C>T|338|NEK6|protein_coding|CODING|NM_001166169.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu233Leu/c.697C>T|313|NEK6|protein_coding|CODING|NM_001166170.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu267Leu/c.799C>T|347|NEK6|protein_coding|CODING|NM_001166171.1|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu233Leu/c.697C>T|313|NEK6|protein_coding|CODING|NM_014397.5|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9928,0.9654,0.998,0.92,0.77,1.00,,,,,,,,,,,,,,,,
missense_variant,PSMB7,MISSENSE,NM_002799.3:p.Val39Ala/c.116T>C,gTc/gCc,MODERATE,COSM3763625(1),0.414936,0.2262,rs4574,1(T),"0.0,0.0(B,B)",-2.385(N),-0.9345(T),,chr9,127177161,127177161,A,G,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val39Ala/c.116T>C|277|PSMB7|protein_coding|CODING|NM_002799.3|2|1),"CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,CD4:H2AK9ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.3947,0.3804,0.3956,0.49,0.61,0.43,,0.000000(N),1.000(P),"1.63,1.63,1.63(T,T,T)",0.0000(T),0.194,1.412608,6.17,6.17,-0.119000,1.644000,6.279000,0.976000,0.998000,1.000000,14.6008
missense_variant,OLFML2A,MISSENSE,NM_182487.3:p.Thr309Ala/c.925A>G,Acc/Gcc,MODERATE,COSM3722870(1),0.819888,0.8968,rs386613760,0.79(T),"0.002,0.0,0.0(B,B,B)",-0.145(N),-0.9971(T),,chr9,127566378,127566378,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr95Ala/c.283A>G|438|OLFML2A|protein_coding|CODING|NM_001282715.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr309Ala/c.925A>G|652|OLFML2A|protein_coding|CODING|NM_182487.3|6|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.8865,0.7968,0.6183,0.73,0.86,0.66,,0.130082(N),1.000(P),"0.89,0.89,0.89(T,T,T)",0.0000(T),0.017,-0.784420,4.97,0.46,-0.119000,0.015000,-0.506000,0.181000,0.211000,0.001000,7.6652
synonymous_variant,OLFML2A,SILENT,NM_182487.3:p.Ala524Ala/c.1572C>T,gcC/gcT,LOW,,0.000399361,0,rs116925909,,,,,,chr9,127572304,127572304,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala310Ala/c.930C>T|438|OLFML2A|protein_coding|CODING|NM_001282715.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala524Ala/c.1572C>T|652|OLFML2A|protein_coding|CODING|NM_182487.3|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0,0,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,WDR38,MISSENSE,NM_001276376.1:p.Lys10Arg/c.29A>G,aAg/aGg,MODERATE,COSM3982733(3),0.452676,0.5804,rs12375547,,,,,,chr9,127616537,127616537,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys10Arg/c.29A>G|266|WDR38|protein_coding|CODING|NM_001276376.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu41Glu/c.123A>G|314|WDR38|protein_coding|CODING|NM_001045476.2|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu41Glu/c.123A>G|315|WDR38|protein_coding|CODING|NM_001276374.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu30Glu/c.90A>G|304|WDR38|protein_coding|CODING|NM_001276375.1|2|1)",H1ESC:H3K36me3,,,,0.3722,0.3573,0.4324,0.45,0.48,0.43,,,,,,,,,,,,,,,,
missense_variant,WDR38,MISSENSE,NM_001276374.1:p.His172Arg/c.515A>G,cAc/cGc,MODERATE,,0.900958,0.7688,rs2274970,0.95(T),0.0(B),-2.04(N),-0.9809(T),,chr9,127618776,127618776,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His172Arg/c.515A>G|314|WDR38|protein_coding|CODING|NM_001045476.2|6|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His172Arg/c.515A>G|315|WDR38|protein_coding|CODING|NM_001276374.1|6|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His161Arg/c.482A>G|304|WDR38|protein_coding|CODING|NM_001276375.1|6|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His123Arg/c.368A>G|266|WDR38|protein_coding|CODING|NM_001276376.1|5|1),downstream_gene_variant(MODIFIER||1382||123|RPL35|protein_coding|CODING|NM_007209.3||1)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.9182,0.9683,0.995,0.96,0.88,1.00,,0.032940(N),1.000(P),0.74(T),0.0000(T),0.031,-1.362075,4.68,2.64,-0.215000,0.577000,0.532000,0.445000,0.576000,0.193000,7.5336
missense_variant,WDR38,MISSENSE,NM_001276374.1:p.Ala193Gly/c.578C>G,gCc/gGc,MODERATE,,0.982029,1,rs10760381,0.91(T),0.0(B),0.415(N),-0.9368(T),,chr9,127618839,127618839,C,G,hom,"missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala193Gly/c.578C>G|314|WDR38|protein_coding|CODING|NM_001045476.2|6|1),missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala193Gly/c.578C>G|315|WDR38|protein_coding|CODING|NM_001276374.1|6|1),missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala182Gly/c.545C>G|304|WDR38|protein_coding|CODING|NM_001276375.1|6|1),missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala144Gly/c.431C>G|266|WDR38|protein_coding|CODING|NM_001276376.1|5|1),downstream_gene_variant(MODIFIER||1319||123|RPL35|protein_coding|CODING|NM_007209.3||1)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,1,0.9914,1,0.98,0.94,1.00,,0.002684(N),1.000(P),0.34(T),0.0000(T),0.019,0.643604,4.68,4.68,-0.216000,1.207000,2.233000,0.960000,0.844000,0.998000,12.7691
synonymous_variant,GOLGA1,SILENT,NM_002077.3:p.Glu739Glu/c.2217A>G,gaA/gaG,LOW,COSM3763633(3),0.301917,0.3433,rs687434,,,,,,chr9,127643456,127643456,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu739Glu/c.2217A>G|767|GOLGA1|protein_coding|CODING|NM_002077.3|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2566,0.3242,0.4036,0.35,0.24,0.41,,,,,,,,,,,,,,,,
missense_variant,GOLGA1,MISSENSE,NM_002077.3:p.Thr425Met/c.1274C>T,aCg/aTg,MODERATE,COSM3763634(1),0.40016,0.5694,rs634710,0.08(T),0.197(B),0.69(N),-0.9649(T),,chr9,127661645,127661645,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr425Met/c.1274C>T|767|GOLGA1|protein_coding|CODING|NM_002077.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3732,0.353,0.4254,0.38,0.32,0.42,,0.850191(U),1.000(P),1.95(T),0.0000(T),0.048,1.590714,5.36,3.5,-0.150000,0.800000,1.416000,0.002000,0.001000,0.024000,7.3442
missense_variant,GOLGA1,MISSENSE,NM_002077.3:p.Leu317Val/c.949T>G,Ttg/Gtg,MODERATE,,0.982827,1,rs583134,0.65(T),0.0(B),-1.335(N),-0.9701(T),,chr9,127674200,127674200,A,C,hom,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu317Val/c.949T>G|767|GOLGA1|protein_coding|CODING|NM_002077.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,1,0.9914,1,0.98,0.94,1.00,,0.001258(N),1.000(P),-1.6(D),0.0000(T),0.164,-2.329912,5.84,2.92,-1.935000,0.077000,1.139000,0.003000,0.002000,0.580000,4.7059
missense_variant,SCAI,MISSENSE,NM_173690.4:p.Ala60Thr/c.178G>A,Gct/Act,MODERATE,COSM3763635(1),0.231629,0.3065,rs589292,0.74(T),"0.025,0.082(B,B)",0(N),-0.9939(T),,chr9,127818276,127818276,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala37Thr/c.109G>A|606|SCAI|protein_coding|CODING|NM_001144877.2|3|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala60Thr/c.178G>A|629|SCAI|protein_coding|CODING|NM_173690.4|4|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.2188,0.2133,0.3101,0.26,0.15,0.31,,0.007061(N),0.995(P),"0.86,0.85(T,T)",0.0000(T),0.099,2.971661,5.33,3.38,0.655000,1.219000,1.092000,0.995000,1.000000,1.000000,9.353
synonymous_variant,PPP6C,SILENT,NM_001123355.1:p.Phe45Phe/c.135C>T,ttC/ttT,LOW,COSM455349(5),0.455072,0.5417,rs466994,,,,,,chr9,127951863,127951863,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe45Phe/c.135C>T|342|PPP6C|protein_coding|CODING|NM_001123355.1|1|1),intron_variant(MODIFIER|||c.75+60C>T|283|PPP6C|protein_coding|CODING|NM_001123369.1|1|1),intron_variant(MODIFIER|||c.75+60C>T|305|PPP6C|protein_coding|CODING|NM_002721.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.4284,0.3473,0.4513,,,,,,,,,,,,,,,,,,,
missense_variant,RABEPK,MISSENSE,NM_001174152.1:p.His73Tyr/c.217C>T,Cac/Tac,MODERATE,,0.0964457,0.005,rs1128362,0.72(T),"0.017,0.648(B,P)",1.5(L),-1.0758(T),,chr9,127975654,127975654,C,T,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His73Tyr/c.217C>T|372|RABEPK|protein_coding|CODING|NM_001174152.1|5|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His73Tyr/c.217C>T|372|RABEPK|protein_coding|CODING|NM_005833.3|4|1),intron_variant(MODIFIER|||c.211+5654C>T|321|RABEPK|protein_coding|CODING|NM_001174153.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.0879,0.1362,0.14,0.13,0.14,,0.000002(D),0.000(P),"2.16,2.16,2.16,2.16,2.16(T,T,T,T,T)",0.0005(T),0.208,1.592552,5.47,3.63,-0.218000,1.330000,2.254000,0.890000,1.000000,0.968000,9.2746
synonymous_variant,GAPVD1,SILENT,NM_015635.3:p.Ile506Ile/c.1518T>C,atT/atC,LOW,,0.98143,1,rs432757,,,,-1.0112(T),,chr9,128074807,128074807,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile506Ile/c.1518T>C|1478|GAPVD1|protein_coding|CODING|NM_001282679.1|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile506Ile/c.1518T>C|1460|GAPVD1|protein_coding|CODING|NM_001282680.1|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile506Ile/c.1518T>C|1439|GAPVD1|protein_coding|CODING|NM_001282681.1|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile506Ile/c.1518T>C|1487|GAPVD1|protein_coding|CODING|NM_015635.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9582,0.9543,0.96,0.99,0.94,,,0.000(P),,0.0000(T),.,1.262527,5.8,2.55,-1.140000,0.399000,-0.054000,0.949000,1.000000,0.852000,10.3037
synonymous_variant,MAPKAP1,SILENT,NM_001006617.1:p.His381His/c.1143C>T,caC/caT,LOW,,0.163738,0.2421,rs2070113,,,,,,chr9,128246786,128246786,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His381His/c.1143C>T|522|MAPKAP1|protein_coding|CODING|NM_001006617.1|9|1),synonymous_variant(LOW|SILENT|caC/caT|p.His189His/c.567C>T|330|MAPKAP1|protein_coding|CODING|NM_001006620.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His189His/c.567C>T|330|MAPKAP1|protein_coding|CODING|NM_001006621.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His345His/c.1035C>T|486|MAPKAP1|protein_coding|CODING|NM_024117.3|8|1),intron_variant(MODIFIER|||c.1067-16398C>T|475|MAPKAP1|protein_coding|CODING|NM_001006619.1|8|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2035,0.1643,0.2256,0.18,0.07,0.24,,,,,,,,,,,,,,,,
synonymous_variant,MVB12B,SILENT,NM_033446.2:p.Thr45Thr/c.135G>A,acG/acA,LOW,COSM4163334(1),0.314896,0.2897,rs1888156,,,,,,chr9,129102840,129102840,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr45Thr/c.135G>A|221|MVB12B|protein_coding|CODING|NM_001011703.2|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr45Thr/c.135G>A|319|MVB12B|protein_coding|CODING|NM_033446.2|2|1)","GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.2791,0.3026,0.2903,0.33,0.36,0.32,,,,,,,,,,,,,,,,
synonymous_variant,MVB12B,SILENT,NM_033446.2:p.Ser99Ser/c.297A>G,tcA/tcG,LOW,COSM4163337(1),0.129593,0.2639,rs2286889,,,,,,chr9,129143435,129143435,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser99Ser/c.297A>G|221|MVB12B|protein_coding|CODING|NM_001011703.2|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser99Ser/c.297A>G|319|MVB12B|protein_coding|CODING|NM_033446.2|3|1)","GM12878:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.1687,0.1427,0.1113,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,LMX1B,SILENT,NM_001174146.1:p.Glu147Glu/c.441A>G,gaA/gaG,LOW,COSM3763642(1),0.480032,0.5585,rs2277158,,,,,,chr9,129453229,129453229,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu147Glu/c.441A>G|406|LMX1B|protein_coding|CODING|NM_001174146.1|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu147Glu/c.441A>G|402|LMX1B|protein_coding|CODING|NM_001174147.1|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu147Glu/c.441A>G|395|LMX1B|protein_coding|CODING|NM_002316.3|3|1)","H1ESC:H3K36me3,GM12878:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4029,0.4092,0.4394,0.46,0.52,0.43,,,,,,,,,,,,,,,,
synonymous_variant,LMX1B,SILENT,NM_001174146.1:p.Ser242Ser/c.726G>C,tcG/tcC,LOW,,0.439297,0.5575,rs13295990,,,,,,chr9,129455587,129455587,G,C,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser242Ser/c.726G>C|406|LMX1B|protein_coding|CODING|NM_001174146.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser242Ser/c.726G>C|402|LMX1B|protein_coding|CODING|NM_001174147.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser242Ser/c.726G>C|395|LMX1B|protein_coding|CODING|NM_002316.3|4|1)","K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4039,0.3948,0.4364,0.42,0.39,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB43,SILENT,NM_001135776.1:p.Thr369Thr/c.1107T>C,acT/acC,LOW,,0.842452,0.9732,rs3118994,,,,,,chr9,129595895,129595895,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr369Thr/c.1107T>C|467|ZBTB43|protein_coding|CODING|NM_001135776.1|2|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr369Thr/c.1107T>C|467|ZBTB43|protein_coding|CODING|NM_014007.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8916,0.6614,0.7753,0.80,0.84,0.78,,,,,,,,,,,,,,,,
synonymous_variant,C9orf117,SILENT,NM_001012502.2:p.Ser387Ser/c.1161T>C,agT/agC,LOW,,0.63738,0.3651,rs522328,,,,,,chr9,130475011,130475011,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser387Ser/c.1161T>C|520|C9orf117|protein_coding|CODING|NM_001012502.2|7|1),downstream_gene_variant(MODIFIER||1216||214|PTRH1|protein_coding|CODING|NM_001002913.1||1)","HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6125,0.6066,0.6054,0.66,0.85,0.57,,,,,,,,,,,,,,,,
missense_variant,C9orf117,MISSENSE,NM_001012502.2:p.Tyr483Ser/c.1448A>C,tAt/tCt,MODERATE,COSM4163343(1),0.536741,0.2966,rs497632,0.42(T),0.014(B),1.1(L),-0.9387(T),,chr9,130475442,130475442,A,C,hom,"missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr483Ser/c.1448A>C|520|C9orf117|protein_coding|CODING|NM_001012502.2|8|1),downstream_gene_variant(MODIFIER||785||214|PTRH1|protein_coding|CODING|NM_001002913.1||1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6115,0.5807,0.6014,0.58,0.61,0.57,,0.398166(N),1.000(P),1.04(T),0.0000(T),0.146,-0.498692,4.35,0.369,0.454000,-0.029000,0.660000,0.224000,0.001000,0.000000,3.1375
synonymous_variant,TTC16,SILENT,NM_144965.1:p.Lys526Lys/c.1578A>G,aaA/aaG,LOW,COSM455375(1),0.61861,0.3661,rs472144,,,,,,chr9,130489558,130489558,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys526Lys/c.1578A>G|873|TTC16|protein_coding|CODING|NM_144965.1|12|1),"HepG2:H3K36me3,HepG2:H3K27me3",,,,0.6667,0.6037,0.6173,0.64,0.74,0.58,,,,,,,,,,,,,,,,
missense_variant,TTC16,MISSENSE,NM_144965.1:p.Glu588Gly/c.1763A>G,gAg/gGg,MODERATE,,0.339058,0.245,rs13298768,0.03(D),"0.003,0.057(B,B)",0.695(N),-0.9230(T),,chr9,130489743,130489743,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu588Gly/c.1763A>G|873|TTC16|protein_coding|CODING|NM_144965.1|12|1),splice_region_variant(LOW|||c.1763A>G|873|TTC16|protein_coding|CODING|NM_144965.1|12|1)","HepG2:H3K36me3,HepG2:H3K27me3",,,,0.3487,0.4625,0.499,0.38,0.26,0.44,,0.143856(N),0.000(P),2.29(T),0.0000(T),0.08,1.491729,4.07,1.73,0.459000,0.372000,2.120000,0.034000,0.476000,0.972000,5.5863
synonymous_variant,TTC16,SILENT,NM_144965.1:p.Lys817Lys/c.2451A>G,aaA/aaG,LOW,COSM3763651(1),0.620208,0.369,rs482095,,,,,,chr9,130493513,130493513,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys817Lys/c.2451A>G|873|TTC16|protein_coding|CODING|NM_144965.1|14|1),downstream_gene_variant(MODIFIER||290||321|TOR2A|protein_coding|CODING|NM_001085347.2||1),downstream_gene_variant(MODIFIER||290||242|TOR2A|protein_coding|CODING|NM_001134430.2||1),downstream_gene_variant(MODIFIER||290||72|TOR2A|protein_coding|CODING|NM_001134431.2||1),downstream_gene_variant(MODIFIER||290||159|TOR2A|protein_coding|CODING|NM_001252018.1||1),downstream_gene_variant(MODIFIER||290||159|TOR2A|protein_coding|CODING|NM_001252021.1||1),downstream_gene_variant(MODIFIER||290||80|TOR2A|protein_coding|CODING|NM_001252023.1||1),downstream_gene_variant(MODIFIER||290||253|TOR2A|protein_coding|CODING|NM_130459.3||1)","HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.6081,0.6173,0.64,0.74,0.58,,,,,,,,,,,,,,,,
missense_variant,TOR2A,MISSENSE,NM_001085347.2:p.Lys203Glu/c.607A>G,Aag/Gag,MODERATE,,0.994209,0.999,rs538066,1(T),0.0(B),-1.415(N),-0.9383(T),,chr9,130494957,130494957,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys203Glu/c.607A>G|321|TOR2A|protein_coding|CODING|NM_001085347.2|4|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys41Glu/c.121A>G|159|TOR2A|protein_coding|CODING|NM_001252018.1|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys41Glu/c.121A>G|159|TOR2A|protein_coding|CODING|NM_001252021.1|3|1),3_prime_UTR_variant(MODIFIER||538|c.*538A>G|253|TOR2A|protein_coding|CODING|NM_130459.3|3|1),3_prime_UTR_variant(MODIFIER||815|c.*815A>G|72|TOR2A|protein_coding|CODING|NM_001134431.2|2|1),downstream_gene_variant(MODIFIER||1078||873|TTC16|protein_coding|CODING|NM_144965.1||1),intron_variant(MODIFIER|||c.594-400A>G|242|TOR2A|protein_coding|CODING|NM_001134430.2|3|1),intron_variant(MODIFIER|||c.108-400A>G|80|TOR2A|protein_coding|CODING|NM_001252023.1|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9914,0.9811,0.99,1.00,0.98,,0.000000(N),0.000(P),1.7(T),0.0000(T),0.244,1.466323,5.72,5.72,-0.215000,1.445000,5.159000,0.946000,0.957000,1.000000,14.0729
missense_variant,TOR2A,MISSENSE,NM_130459.3:p.Trp208Cys/c.624G>C,tgG/tgC,MODERATE,,0.623802,0.371,rs564754,0.18(T),0.001(B),,-0.9787(T),,chr9,130495633,130495633,C,G,hom,"missense_variant(MODERATE|MISSENSE|tgG/tgC|p.Trp208Cys/c.624G>C|253|TOR2A|protein_coding|CODING|NM_130459.3|3|1),3_prime_UTR_variant(MODIFIER||139|c.*139G>C|72|TOR2A|protein_coding|CODING|NM_001134431.2|2|1),downstream_gene_variant(MODIFIER||1754||873|TTC16|protein_coding|CODING|NM_144965.1||1),intron_variant(MODIFIER|||c.593+31G>C|242|TOR2A|protein_coding|CODING|NM_001134430.2|3|1),intron_variant(MODIFIER|||c.107+31G>C|80|TOR2A|protein_coding|CODING|NM_001252023.1|2|1),intron_variant(MODIFIER|||c.593+31G>C|321|TOR2A|protein_coding|CODING|NM_001085347.2|3|1),intron_variant(MODIFIER|||c.107+31G>C|159|TOR2A|protein_coding|CODING|NM_001252018.1|2|1),intron_variant(MODIFIER|||c.107+31G>C|159|TOR2A|protein_coding|CODING|NM_001252021.1|2|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6687,0.6081,0.6332,0.64,0.74,0.59,,,1.000(P),-0.37(T),0.0000(T),0.036,1.432873,5.39,-1.4,-0.311000,-0.643000,-1.060000,0.015000,0.000000,0.000000,5.8881
synonymous_variant,SH2D3C,SILENT,NM_170600.2:p.Ala695Ala/c.2085C>T,gcC/gcT,LOW,COSM1489681(1),0.531749,0.2847,rs514024,,,,,,chr9,130504070,130504070,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala341Ala/c.1023C>T|506|SH2D3C|protein_coding|CODING|NM_001142531.1|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala341Ala/c.1023C>T|506|SH2D3C|protein_coding|CODING|NM_001142532.1|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala537Ala/c.1611C>T|702|SH2D3C|protein_coding|CODING|NM_001142533.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala535Ala/c.1605C>T|700|SH2D3C|protein_coding|CODING|NM_001142534.1|7|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala627Ala/c.1881C>T|792|SH2D3C|protein_coding|CODING|NM_001252334.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala538Ala/c.1614C>T|703|SH2D3C|protein_coding|CODING|NM_005489.3|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala695Ala/c.2085C>T|860|SH2D3C|protein_coding|CODING|NM_170600.2|9|1)","HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",Eating_disorders_purging_via_substances,,,0.6207,0.5764,0.6103,0.58,0.58,0.58,,,,,,,,,,,,,,,,
synonymous_variant,AK1,SILENT,NM_000476.2:p.Pro159Pro/c.477T>C,ccT/ccC,LOW,,0.998203,1,rs913986,,,,-1.0325(T),,chr9,130630639,130630639,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro159Pro/c.477T>C|194|AK1|protein_coding|CODING|NM_000476.2|6|1),downstream_gene_variant(MODIFIER||1055|||MIR4672||NON_CODING|NR_039819.1||1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,0.000(P),,0.0000(T),.,1.333159,5.35,-10.7,-0.215000,-2.929000,-4.950000,0.842000,0.042000,0.000000,2.1896
synonymous_variant,PIP5KL1,SILENT,NM_001135219.1:p.Ala122Ala/c.366C>G,gcC/gcG,LOW,COSM3723055(2),0.773562,0.6528,rs10760515,,,,,,chr9,130690412,130690412,G,C,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala122Ala/c.366C>G|394|PIP5KL1|protein_coding|CODING|NM_001135219.1|4|1),upstream_gene_variant(MODIFIER||642||191|PIP5KL1|protein_coding|CODING|NM_173492.1||1)","HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,HeLa-S3:Max,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,K562:E2F6,HepG2:H3K27me3,K562:DNase1",,,,0.7454,0.902,0.9195,0.86,0.74,0.91,,,,,,,,,,,,,,,,
missense_variant,DPM2,MISSENSE,NM_003863.3:p.Thr76Ser/c.227C>G,aCc/aGc,MODERATE,COSM3982740(1),0.683506,0.4484,rs7997,1(T),0.0(B),,-0.9408(T),,chr9,130698029,130698029,G,C,hom,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr76Ser/c.227C>G|84|DPM2|protein_coding|CODING|NM_003863.3|4|1),"CD4:H3K9me1,H1ESC:H3K36me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,K562:FAIRE,CD4:H4K20me1,K562:Cmyc,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,K562:Egr1,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1",,RCV000116901.1,,0.6616,0.8545,0.8708,0.80,0.68,0.87,,,0.000(P),0.17(T),0.0000(T),0.065,-1.343316,5.06,2.74,-1.218000,0.058000,0.141000,0.466000,0.392000,0.965000,4.0792
synonymous_variant,DPM2,SILENT,NM_003863.3:p.Tyr71Tyr/c.213T>C,taT/taC,LOW,,0.73103,0.6498,rs6781,,,,,,chr9,130698043,130698043,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr71Tyr/c.213T>C|84|DPM2|protein_coding|CODING|NM_003863.3|4|1),"CD4:H3K9me1,H1ESC:H3K36me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,K562:FAIRE,CD4:H4K20me1,K562:Cmyc,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,K562:Egr1,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1",,RCV000116900.1,,0.6708,0.8833,0.8728,0.81,0.68,0.87,,,,,,,,,,,,,,,,
synonymous_variant,FAM102A,SILENT,NM_001035254.2:p.Asp338Asp/c.1014T>C,gaT/gaC,LOW,,0.70008,0.4494,rs2274426,,,,,,chr9,130707081,130707081,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp338Asp/c.1014T>C|384|FAM102A|protein_coding|CODING|NM_001035254.2|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp196Asp/c.588T>C|242|FAM102A|protein_coding|CODING|NM_203305.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.6616,0.8588,0.8708,0.82,0.72,0.87,,,,,,,,,,,,,,,,
synonymous_variant,NAIF1,SILENT,NM_197956.3:p.Gly114Gly/c.342T>C,ggT/ggC,LOW,COSM4163355(1),0.993211,1,rs1539350,,,,,,chr9,130829039,130829039,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly114Gly/c.342T>C|327|NAIF1|protein_coding|CODING|NM_197956.3|1|1),upstream_gene_variant(MODIFIER||1440||503|SLC25A25|protein_coding|CODING|NM_001006641.3||1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,K562:H3K36me3,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,K562:E2F6,IMR90:H3K27ac,K562:H3K9ac,HepG2:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A25,SILENT,NM_052901.4:p.Tyr7Tyr/c.21T>C,taT/taC,LOW,COSM4163357(1),0.954273,1,rs947624,,,,,,chr9,130860866,130860866,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr7Tyr/c.21T>C|469|SLC25A25|protein_coding|CODING|NM_052901.4|1|1),intron_variant(MODIFIER|||c.262-2509T>C|503|SLC25A25|protein_coding|CODING|NM_001006641.3|1|1),intron_variant(MODIFIER|||c.220-2509T>C|489|SLC25A25|protein_coding|CODING|NM_001006642.3|1|1),intron_variant(MODIFIER|||c.220-2509T>C|501|SLC25A25|protein_coding|CODING|NM_001265614.2|1|1),non_coding_exon_variant(MODIFIER|||n.106T>C||SLC25A25||CODING|NR_049766.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:HNF4A,HepG2:H3K4me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,1,0.9841,1,0.95,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A25,SILENT,NM_001006641.3:p.Ile168Ile/c.504T>C,atT/atC,LOW,,0.954273,1,rs7859709,,,,,,chr9,130864676,130864676,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile168Ile/c.504T>C|503|SLC25A25|protein_coding|CODING|NM_001006641.3|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile154Ile/c.462T>C|489|SLC25A25|protein_coding|CODING|NM_001006642.3|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile166Ile/c.498T>C|501|SLC25A25|protein_coding|CODING|NM_001265614.2|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile134Ile/c.402T>C|469|SLC25A25|protein_coding|CODING|NM_052901.4|4|1),non_coding_exon_variant(MODIFIER|||n.530T>C||SLC25A25||CODING|NR_049766.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9841,1,0.95,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PTGES2,SILENT,NM_025072.6:p.Ala349Ala/c.1047G>A,gcG/gcA,LOW,,0.935104,1,rs2040004,,,,,,chr9,130883511,130883511,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala158Ala/c.474G>A|186|PTGES2|protein_coding|CODING|NM_001256335.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala349Ala/c.1047G>A|377|PTGES2|protein_coding|CODING|NM_025072.6|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala158Ala/c.474G>A|186|PTGES2|protein_coding|CODING|NM_198938.2|8|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9899,1,0.93,0.80,1.00,,,,,,,,,,,,,,,,
missense_variant,PTGES2,MISSENSE,NM_025072.6:p.Arg298His/c.893G>A,cGc/cAc,MODERATE,COSM3763660(1),0.0680911,0.001,rs13283456,0.38(T),0.0(B),-0.695(N),-1.0083(T),,chr9,130884753,130884753,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg107His/c.320G>A|186|PTGES2|protein_coding|CODING|NM_001256335.1|7|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg298His/c.893G>A|377|PTGES2|protein_coding|CODING|NM_025072.6|6|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg107His/c.320G>A|186|PTGES2|protein_coding|CODING|NM_198938.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.1484,0.1918,0.14,0.04,0.20,,0.000030(N),0.989(P),"0.95,0.95,0.95(T,T,T)",0.0000(T),0.186,0.105135,4.83,2.22,-0.459000,0.189000,4.616000,0.207000,0.948000,1.000000,8.6132
synonymous_variant,CIZ1,SILENT,NM_001257975.1:p.Asp791Asp/c.2373C>T,gaC/gaT,LOW,,0.00638978,0,rs41276236,,,,,,chr9,130931421,130931421,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp679Asp/c.2037C>T|842|CIZ1|protein_coding|CODING|NM_001131015.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp735Asp/c.2205C>T|898|CIZ1|protein_coding|CODING|NM_001131016.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp674Asp/c.2022C>T|837|CIZ1|protein_coding|CODING|NM_001131017.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp655Asp/c.1965C>T|818|CIZ1|protein_coding|CODING|NM_001131018.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp791Asp/c.2373C>T|954|CIZ1|protein_coding|CODING|NM_001257975.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp634Asp/c.1902C>T|797|CIZ1|protein_coding|CODING|NM_001257976.1|13|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp735Asp/c.2205C>T|898|CIZ1|protein_coding|CODING|NM_012127.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0115,0.0209,0.01,0.01,0.02,,,,,,,,,,,,,,,,
synonymous_variant,DNM1,SILENT,NM_001288739.1:p.Tyr354Tyr/c.1062C>T,taC/taT,LOW,COSM4163368(1),0.0694888,0.004,rs35048348,,,,,,chr9,130984809,130984809,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr354Tyr/c.1062C>T|850|DNM1|protein_coding|CODING|NM_001005336.2|8|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr354Tyr/c.1062C>T|850|DNM1|protein_coding|CODING|NM_001288737.1|8|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr354Tyr/c.1062C>T|850|DNM1|protein_coding|CODING|NM_001288738.1|8|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr354Tyr/c.1062C>T|863|DNM1|protein_coding|CODING|NM_001288739.1|8|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr354Tyr/c.1062C>T|863|DNM1|protein_coding|CODING|NM_004408.3|8|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3,K562:DNase1",,,,0.0961,0.0648,0.0686,0.09,0.11,0.08,,,,,,,,,,,,,,,,
missense_variant,COQ4,MISSENSE,NM_016035.3:p.Gly50Ala/c.149G>C,gGg/gCg,MODERATE,,0.998003,1,rs3003601,0.77(T),"0.004,0.0(B,B)",-1.27(N),-1.0087(T),,chr9,131085373,131085373,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly50Ala/c.149G>C|265|COQ4|protein_coding|CODING|NM_016035.3|2|1),upstream_gene_variant(MODIFIER||676||331|TRUB2|protein_coding|CODING|NM_015679.1||1)","K562:ZBTB7A,NHEK:H3K9ac,CD4:H2AZ,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:TFIIIC-110,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9986,1,1.00,0.99,1.00,,0.251915(N),1.000(P),"1.13,1.13(T,T)",0.0000(T),0.079,0.446215,5.64,-2.65,-0.357000,-0.582000,0.037000,0.684000,0.727000,0.039000,8.3308
splice_donor_variant,ODF2,protein_coding,NM_153435.1:c.903A>G,,HIGH,COSM4163373(1),0.989617,1,rs4512487,1(T),,,-0.9840(T),ODF2:1.00(11);,chr9,131235321,131235321,A,G,hom,"splice_donor_variant(HIGH|||c.696A>G|824|ODF2|protein_coding|CODING|NM_001242352.1|7|1),splice_donor_variant(HIGH|||c.711A>G|829|ODF2|protein_coding|CODING|NM_001242353.1|7|1),splice_donor_variant(HIGH|||c.468A>G|576|ODF2|protein_coding|CODING|NM_001242354.1|6|1),splice_donor_variant(HIGH|||c.639A>G|805|ODF2|protein_coding|CODING|NM_002540.4|9|1),splice_donor_variant(HIGH|||c.843A>G|701|ODF2|protein_coding|CODING|NM_153432.1|6|1),splice_donor_variant(HIGH|||c.711A>G|829|ODF2|protein_coding|CODING|NM_153433.1|7|1),splice_donor_variant(HIGH|||c.903A>G|893|ODF2|protein_coding|CODING|NM_153435.1|7|1),splice_donor_variant(HIGH|||c.711A>G|657|ODF2|protein_coding|CODING|NM_153436.1|6|1),splice_donor_variant(HIGH|||c.654A>G|638|ODF2|protein_coding|CODING|NM_153437.2|7|1),splice_donor_variant(HIGH|||c.786A>G|653|ODF2|protein_coding|CODING|NM_153439.1|6|1),splice_donor_variant(HIGH|||c.654A>G|638|ODF2|protein_coding|CODING|NM_153440.1|6|1),intron_variant(MODIFIER|||c.695+1A>G|824|ODF2|protein_coding|CODING|NM_001242352.1|7|1),intron_variant(MODIFIER|||c.710+1A>G|829|ODF2|protein_coding|CODING|NM_001242353.1|7|1),intron_variant(MODIFIER|||c.467+1A>G|576|ODF2|protein_coding|CODING|NM_001242354.1|6|1),intron_variant(MODIFIER|||c.638+1A>G|805|ODF2|protein_coding|CODING|NM_002540.4|9|1),intron_variant(MODIFIER|||c.842+1A>G|701|ODF2|protein_coding|CODING|NM_153432.1|6|1),intron_variant(MODIFIER|||c.710+1A>G|829|ODF2|protein_coding|CODING|NM_153433.1|7|1),intron_variant(MODIFIER|||c.902+1A>G|893|ODF2|protein_coding|CODING|NM_153435.1|7|1),intron_variant(MODIFIER|||c.710+1A>G|657|ODF2|protein_coding|CODING|NM_153436.1|6|1),intron_variant(MODIFIER|||c.653+1A>G|638|ODF2|protein_coding|CODING|NM_153437.2|7|1),intron_variant(MODIFIER|||c.785+1A>G|653|ODF2|protein_coding|CODING|NM_153439.1|6|1),intron_variant(MODIFIER|||c.653+1A>G|638|ODF2|protein_coding|CODING|NM_153440.1|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.96,1.00,,,0.000(P),,0.0000(T),.,0.873005,5.07,-10.1,-1.204000,-2.821000,-2.300000,0.717000,0.159000,0.002000,3.9124
synonymous_variant,ODF2,SILENT,NM_153435.1:p.Leu674Leu/c.2020C>T,Ctg/Ttg,LOW,COSM1137953(1),,,,,,,,,chr9,131256864,131256864,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu605Leu/c.1813C>T|824|ODF2|protein_coding|CODING|NM_001242352.1|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu610Leu/c.1828C>T|829|ODF2|protein_coding|CODING|NM_001242353.1|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu586Leu/c.1756C>T|805|ODF2|protein_coding|CODING|NM_002540.4|19|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu610Leu/c.1828C>T|829|ODF2|protein_coding|CODING|NM_153433.1|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu674Leu/c.2020C>T|893|ODF2|protein_coding|CODING|NM_153435.1|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu529Leu/c.1585C>T|576|ODF2|protein_coding|CODING|NM_001242354.1|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu654Leu/c.1960C>T|701|ODF2|protein_coding|CODING|NM_153432.1|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu610Leu/c.1828C>T|657|ODF2|protein_coding|CODING|NM_153436.1|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu591Leu/c.1771C>T|638|ODF2|protein_coding|CODING|NM_153437.2|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu591Leu/c.1771C>T|638|ODF2|protein_coding|CODING|NM_153440.1|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu606Leu/c.1816C>T|653|ODF2|protein_coding|CODING|NM_153439.1|16|1)","K562:ZBTB7A,H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:FAIRE,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SPTAN1,SILENT,NM_001130438.2:p.Ala721Ala/c.2163A>C,gcA/gcC,LOW,,0.969848,1,rs10760566,,,,,,chr9,131346218,131346218,A,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala721Ala/c.2163A>C|2477|SPTAN1|protein_coding|CODING|NM_001130438.2|16|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala721Ala/c.2163A>C|2452|SPTAN1|protein_coding|CODING|NM_001195532.1|16|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala721Ala/c.2163A>C|2472|SPTAN1|protein_coding|CODING|NM_003127.3|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9899,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SPTAN1,SILENT,NM_001130438.2:p.Leu1162Leu/c.3486C>T,ctC/ctT,LOW,,0.642772,0.5109,rs2227864,,,,,,chr9,131360750,131360750,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1162Leu/c.3486C>T|2477|SPTAN1|protein_coding|CODING|NM_001130438.2|25|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1142Leu/c.3426C>T|2452|SPTAN1|protein_coding|CODING|NM_001195532.1|24|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1162Leu/c.3486C>T|2472|SPTAN1|protein_coding|CODING|NM_003127.3|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7239,0.7939,0.8847,0.76,0.48,0.90,,,,,,,,,,,,,,,,
synonymous_variant,SPTAN1,SILENT,NM_001130438.2:p.Leu1695Leu/c.5085A>G,ctA/ctG,LOW,,0.984824,1,rs1415568,,,,,,chr9,131375701,131375701,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1695Leu/c.5085A>G|2477|SPTAN1|protein_coding|CODING|NM_001130438.2|40|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1670Leu/c.5010A>G|2452|SPTAN1|protein_coding|CODING|NM_001195532.1|38|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1690Leu/c.5070A>G|2472|SPTAN1|protein_coding|CODING|NM_003127.3|39|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SPTAN1,SILENT,NM_001130438.2:p.Thr1802Thr/c.5406C>T,acC/acT,LOW,COSM4163385(1),0.617013,0.5139,rs2227862,,,,,,chr9,131379967,131379967,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1802Thr/c.5406C>T|2477|SPTAN1|protein_coding|CODING|NM_001130438.2|42|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1777Thr/c.5331C>T|2452|SPTAN1|protein_coding|CODING|NM_001195532.1|40|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1797Thr/c.5391C>T|2472|SPTAN1|protein_coding|CODING|NM_003127.3|41|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7188,0.781,0.8827,0.73,0.40,0.90,,,,,,,,,,,,,,,,
synonymous_variant,WDR34,SILENT,NM_052844.3:p.Thr291Thr/c.873C>T,acC/acT,LOW,COSM4007061(1),0.621406,0.4921,rs4837291,,,,,,chr9,131397479,131397479,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr291Thr/c.873C>T|536|WDR34|protein_coding|CODING|NM_052844.3|6|1),downstream_gene_variant(MODIFIER||1535||2477|SPTAN1|protein_coding|CODING|NM_001130438.2||1),downstream_gene_variant(MODIFIER||1535||2452|SPTAN1|protein_coding|CODING|NM_001195532.1||1),downstream_gene_variant(MODIFIER||1535||2472|SPTAN1|protein_coding|CODING|NM_003127.3||1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Max,HSMM:H3K27ac,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,HUVEC:DNase1,IMR90:H3K4me1,IMR90:H3K36me3,HMEC:CTCF,HSMM:H3K4me1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HMEC:H3K4me1,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.7229,0.7853,0.8698,0.73,0.42,0.89,,,,,,,,,,,,,,,,
synonymous_variant,WDR34,SILENT,NM_052844.3:p.Gln209Gln/c.627G>A,caG/caA,LOW,COSM455423(5),0.601438,0.5119,rs10760570,,,,,,chr9,131398636,131398636,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln209Gln/c.627G>A|536|WDR34|protein_coding|CODING|NM_052844.3|4|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HeLa-S3:H3K4me2,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,HeLa-S3:PolII,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,NHEK:H3K36me3,HepG2:CTCF,HeLa-S3:Ap2gamma,HMEC:H3K4me1,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,NHEK:DNase1,H1ESC:CTCF",,,,0.7239,0.7795,0.8698,0.71,0.35,0.89,,,,,,,,,,,,,,,,
synonymous_variant,WDR34,SILENT,NM_052844.3:p.Tyr103Tyr/c.309T>C,taT/taC,LOW,,0.740016,0.6062,rs2298045,,,,,,chr9,131403096,131403096,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr103Tyr/c.309T>C|536|WDR34|protein_coding|CODING|NM_052844.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7566,0.8199,0.8708,0.84,0.72,0.89,,,,,,,,,,,,,,,,
missense_variant,WDR34,MISSENSE,NM_052844.3:p.Trp60Gly/c.178T>G,Tgg/Ggg,MODERATE,COSM1580233(1),,,rs4837292,0.77(T),"0.0,0.0(B,B)",-1.39(N),-0.9821(T),,chr9,131418828,131418828,A,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp60Gly/c.178T>G|536|WDR34|protein_coding|CODING|NM_052844.3|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:E2F4,HeLa-S3:PolII,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,,,,1.00,1.00,1.00,,0.131154(N),1.000(P),"-0.81,-0.81,-0.81(T,T,T)",0.0000(T),0.043,0.621247,4.02,2.12,-0.126000,0.259000,0.709000,0.970000,0.994000,1.000000,7.4804
missense_variant,ZDHHC12,MISSENSE,NM_032799.4:p.Gln172Leu/c.515A>T,cAg/cTg,MODERATE,COSM4163388(1),0.998203,1,rs2900268,0.3(T),"0.0,0.0(B,B)",-0.16(N),-1.0329(T),,chr9,131483749,131483749,T,A,hom,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln172Leu/c.515A>T|267|ZDHHC12|protein_coding|CODING|NM_032799.4|5|1),downstream_gene_variant(MODIFIER||550||889|PKN3|protein_coding|CODING|NM_013355.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.961495(N),1.000(P),"1.73,1.73(T,T)",0.0000(T),0.143,-0.234530,4.81,-0.423,-0.527000,-0.037000,-0.132000,0.075000,0.304000,0.008000,0.3832
synonymous_variant,ZER1,SILENT,NM_006336.3:p.Ala214Ala/c.642C>A,gcC/gcA,LOW,COSM4163389(1),0.354034,0.2401,rs8507,,,,,,chr9,131515547,131515547,G,T,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala214Ala/c.642C>A|766|ZER1|protein_coding|CODING|NM_006336.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3875,0.5418,0.5517,0.45,0.23,0.57,,,,,,,,,,,,,,,,
missense_variant,ENDOG,MISSENSE,NM_004435.2:p.Ser12Leu/c.35C>T,tCg/tTg,MODERATE,COSM4163392(1),0.597843,0.7331,rs2293969,0.66(T),0.0(B),-1.39(N),-1.0064(T),,chr9,131580998,131580998,C,T,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser12Leu/c.35C>T|297|ENDOG|protein_coding|CODING|NM_004435.2|1|1),downstream_gene_variant(MODIFIER||932||376|C9orf114|protein_coding|CODING|NM_016390.3||1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.5941,0.7839,0.7465,,,,,0.801345(N),1.000(P),2.12(T),0.0000(T),0.113,0.881526,3.74,3.74,-0.817000,0.523000,0.782000,0.019000,0.915000,0.088000,8.0382
missense_variant,C9orf114,MISSENSE,NM_016390.3:p.Ile369Thr/c.1106T>C,aTc/aCc,MODERATE,COSM4163394(1),0.603834,0.7331,rs2280843,0.77(T),0.0(B),-1.39(N),-0.9792(T),,chr9,131585069,131585069,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile369Thr/c.1106T>C|376|C9orf114|protein_coding|CODING|NM_016390.3|12|1),downstream_gene_variant(MODIFIER||114||297|ENDOG|protein_coding|CODING|NM_004435.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5941,0.7853,0.7465,0.62,0.38,0.75,,,1.000(P),2.02(T),0.0000(T),0.055,-0.389315,4.91,-0.317,-1.476000,-0.209000,-0.084000,0.119000,0.033000,0.003000,0.4741
synonymous_variant,CCBL1,SILENT,NM_001287390.1:p.Pro184Pro/c.552G>A,ccG/ccA,LOW,,,,,,,,,,chr9,131600578,131600578,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro90Pro/c.270G>A|422|CCBL1|protein_coding|CODING|NM_001122671.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro184Pro/c.552G>A|516|CCBL1|protein_coding|CODING|NM_001287390.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro90Pro/c.270G>A|422|CCBL1|protein_coding|CODING|NM_004059.4|4|1),intron_variant(MODIFIER|||c.202-162G>A|372|CCBL1|protein_coding|CODING|NM_001122672.1|3|1),non_coding_exon_variant(MODIFIER|||n.455G>A||CCBL1||CODING|NR_109829.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,HepG2:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,LRRC8A,SILENT,NM_001127244.1:p.Arg492Arg/c.1476T>C,cgT/cgC,LOW,,0.571086,0.6657,rs3750319,,,,,,chr9,131670919,131670919,T,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg492Arg/c.1476T>C|810|LRRC8A|protein_coding|CODING|NM_001127244.1|3|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg492Arg/c.1476T>C|810|LRRC8A|protein_coding|CODING|NM_001127245.1|2|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg492Arg/c.1476T>C|810|LRRC8A|protein_coding|CODING|NM_019594.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.6575,0.7363,0.7227,0.59,0.31,0.72,,,,,,,,,,,,,,,,
synonymous_variant,PHYHD1,SILENT,NM_174933.3:p.Ala26Ala/c.78G>A,gcG/gcA,LOW,COSM3982744(1),0.369808,0.2371,rs751340,,,,,,chr9,131689361,131689361,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala26Ala/c.78G>A|291|PHYHD1|protein_coding|CODING|NM_001100876.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala26Ala/c.78G>A|270|PHYHD1|protein_coding|CODING|NM_001100877.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala26Ala/c.78G>A|297|PHYHD1|protein_coding|CODING|NM_174933.3|4|1)",HepG2:H3K36me3,,,,0.3507,0.4294,0.4105,0.39,0.42,0.38,,,,,,,,,,,,,,,,
missense_variant,PHYHD1,MISSENSE,NM_174933.3:p.Glu193Gly/c.578A>G,gAa/gGa,MODERATE,COSM150725(5),0.351438,0.2381,rs2273866,0.4(T),0.003(B),,-0.9628(T),,chr9,131702891,131702891,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu193Gly/c.578A>G|297|PHYHD1|protein_coding|CODING|NM_174933.3|10|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg200Arg/c.600A>G|291|PHYHD1|protein_coding|CODING|NM_001100876.1|11|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg179Arg/c.537A>G|270|PHYHD1|protein_coding|CODING|NM_001100877.1|8|1)","HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.3507,0.4251,0.4095,0.37,0.35,0.38,,0.063064(N),0.000(P),,0.0000(T),0.408,2.473911,4.78,-1.45,0.454000,-0.043000,-0.020000,0.949000,0.901000,0.920000,8.2316
synonymous_variant,NUP188,SILENT,NM_015354.2:p.Ser1532Ser/c.4596A>C,tcA/tcC,LOW,,0.451677,0.4067,rs2287363,,,,,,chr9,131767668,131767668,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser1532Ser/c.4596A>C|1749|NUP188|protein_coding|CODING|NM_015354.2|40|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4223,0.4957,0.4672,0.43,0.46,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SH3GLB2,SILENT,NM_001287045.1:p.Pro329Pro/c.987G>A,ccG/ccA,LOW,COSM3763666(5),0.255791,0.1696,rs1129098,,,,,,chr9,131771505,131771505,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro329Pro/c.987G>A|404|SH3GLB2|protein_coding|CODING|NM_001287045.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro320Pro/c.960G>A|395|SH3GLB2|protein_coding|CODING|NM_001287046.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro320Pro/c.960G>A|395|SH3GLB2|protein_coding|CODING|NM_020145.3|10|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3067,0.3991,0.4135,0.28,0.12,0.36,,,,,,,,,,,,,,,,
synonymous_variant,DOLPP1,SILENT,NM_020438.4:p.Ser29Ser/c.87T>C,tcT/tcC,LOW,COSM4163402(1),0.365415,0.2956,rs11541836,,,,,,chr9,131846957,131846957,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser29Ser/c.87T>C|195|DOLPP1|protein_coding|CODING|NM_001135917.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser29Ser/c.87T>C|238|DOLPP1|protein_coding|CODING|NM_020438.4|2|1),non_coding_exon_variant(MODIFIER|||n.115T>C||DOLPP1||CODING|NR_072983.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4877,0.5,0.6372,0.45,0.14,0.61,,,,,,,,,,,,,,,,
missense_variant,CRAT,MISSENSE,NM_000755.3:p.Leu372Met/c.1114C>A,Ctg/Atg,MODERATE,COSM4163404(1),0.996406,1,rs3118635,0.12(T),0.001(B),-0.27(N),-0.9352(T),,chr9,131860901,131860901,G,T,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu372Met/c.1114C>A|626|CRAT|protein_coding|CODING|NM_000755.3|9|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu351Met/c.1051C>A|605|CRAT|protein_coding|CODING|NM_001257363.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9971,1,1.00,0.99,1.00,,0.000000(N),0.000(P),-2.45(D),0.0000(T),0.271,0.468378,5.13,5.13,-0.363000,0.978000,4.458000,0.958000,1.000000,1.000000,11.6669
missense_variant,IER5L,MISSENSE,NM_203434.2:p.Pro105Ser/c.313C>T,Ccg/Tcg,MODERATE,,0.184904,0.1567,rs184457,0.12(T),0.096(B),0.345(N),-1.0289(T),,chr9,131940019,131940019,G,A,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro105Ser/c.313C>T|404|IER5L|protein_coding|CODING|NM_203434.2|1|1),"K562:H3K4me3,HeLa-S3:DNase1,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2515,0.1859,0.2783,,,,,0.794746(U),0.988(P),1.0(T),0.0000(T),0.319,2.937521,3.39,3.39,0.298000,1.737000,3.495000,0.975000,0.989000,1.000000,12.3275
missense_variant,C9orf50,MISSENSE,NM_199350.3:p.Arg381Gln/c.1142G>A,cGa/cAa,MODERATE,,0.21246,0.2937,rs2302779,0(D),0.061(B),0.46(N),-0.9126(T),,chr9,132375432,132375432,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg381Gln/c.1142G>A|431|C9orf50|protein_coding|CODING|NM_199350.3|6|1),intron_variant(MODIFIER|||c.-55+3975C>T|223|NTMT1|protein_coding|CODING|NM_001286796.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.2055,0.2637,0.1869,0.14,0.15,0.14,,0.080535(N),1.000(P),1.92(T),0.0000(T),0.075,2.706789,3.59,0.0128,0.435000,-0.001000,-1.278000,0.010000,0.000000,0.000000,6.003
missense_variant,C9orf50,MISSENSE,NM_199350.3:p.Arg248Lys/c.743G>A,aGg/aAg,MODERATE,COSM3763669(3),0.556709,0.498,rs918165,0.92(T),0.0(B),-0.345(N),-0.9726(T),,chr9,132377900,132377900,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg248Lys/c.743G>A|431|C9orf50|protein_coding|CODING|NM_199350.3|4|1),intron_variant(MODIFIER|||c.-55+6443C>T|223|NTMT1|protein_coding|CODING|NM_001286796.1|1|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.5419,0.5216,0.4513,0.48,0.67,0.39,,0.504289(N),1.000(P),2.45(T),0.0000(T),0.039,-1.044468,3.1,-0.718,-0.867000,-0.455000,-0.826000,0.040000,0.001000,0.002000,3.8899
synonymous_variant,C9orf50,SILENT,NM_199350.3:p.Ala86Ala/c.258G>T,gcG/gcT,LOW,,0.197085,0.3085,rs111606531,,,,,,chr9,132382596,132382596,C,A,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala86Ala/c.258G>T|431|C9orf50|protein_coding|CODING|NM_199350.3|1|1),5_prime_UTR_variant(MODIFIER||12387|c.-58C>A|223|NTMT1|protein_coding|CODING|NM_001286797.1|1|1),intron_variant(MODIFIER|||c.-55+11139C>A|223|NTMT1|protein_coding|CODING|NM_001286796.1|1|1)","K562:ZBTB7A,NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:CTCF,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF",,,,0.2178,0.2695,0.2187,,,,,,,,,,,,,,,,,,,
synonymous_variant,ASB6,SILENT,NM_017873.3:p.Ala285Ala/c.855C>T,gcC/gcT,LOW,,0.461462,0.5129,rs3739851,,,,,,chr9,132400480,132400480,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala256Ala/c.768C>T|392|ASB6|protein_coding|CODING|NM_001202403.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala285Ala/c.855C>T|421|ASB6|protein_coding|CODING|NM_017873.3|6|1),3_prime_UTR_variant(MODIFIER||152|c.*152C>T|197|ASB6|protein_coding|CODING|NM_177999.2|5|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4765,0.4899,0.5567,0.53,0.37,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ASB6,SILENT,NM_017873.3:p.Val69Val/c.207G>C,gtG/gtC,LOW,,0.934904,0.9147,rs2241247,,,,,,chr9,132402908,132402908,C,G,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val69Val/c.207G>C|392|ASB6|protein_coding|CODING|NM_001202403.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val69Val/c.207G>C|421|ASB6|protein_coding|CODING|NM_017873.3|2|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val69Val/c.207G>C|197|ASB6|protein_coding|CODING|NM_177999.2|2|1)","NHEK:H3K9ac,NHEK:H3K4me3,K562:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.954,0.938,0.9781,0.96,0.91,0.99,,,,,,,,,,,,,,,,
missense_variant,TOR1A,MISSENSE,NM_000113.2:p.Asp216His/c.646G>C,Gat/Cat,MODERATE,,0.0836661,0.0556,rs1801968,0.02(D),0.615(P),1.935(M),-1.0346(T),,chr9,132580901,132580901,C,G,het,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp216His/c.646G>C|332|TOR1A|protein_coding|CODING|NM_000113.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000005490.2|RCV000020122.1,,0.1483,0.1095,0.1382,0.10,0.03,0.14,,0.000178(D),0.039(P),1.0(T),0.0010(T),0.374,3.634709,6.08,5.17,0.655000,1.557000,1.255000,0.966000,0.492000,0.708000,9.8793
synonymous_variant,USP20,SILENT,NM_001008563.4:p.Phe57Phe/c.171T>C,ttT/ttC,LOW,COSM4163410(1),0.884385,0.997,rs10819568,,,,,,chr9,132620364,132620364,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe57Phe/c.171T>C|914|USP20|protein_coding|CODING|NM_001008563.4|5|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe57Phe/c.171T>C|914|USP20|protein_coding|CODING|NM_001110303.3|5|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe57Phe/c.171T>C|914|USP20|protein_coding|CODING|NM_006676.7|5|1)","H1ESC:H3K36me3,K562:H3K27ac,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.911,0.9164,0.9215,0.86,0.79,0.90,,,,,,,,,,,,,,,,
synonymous_variant,USP20,SILENT,NM_001008563.4:p.Asp136Asp/c.408C>T,gaC/gaT,LOW,,0.873403,0.9831,rs1503375,,,,,,chr9,132623293,132623293,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp136Asp/c.408C>T|914|USP20|protein_coding|CODING|NM_001008563.4|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp136Asp/c.408C>T|914|USP20|protein_coding|CODING|NM_001110303.3|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp136Asp/c.408C>T|914|USP20|protein_coding|CODING|NM_006676.7|7|1)","H1ESC:H3K36me3,CD4:H2BK5ac,K562:H3K27ac,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:Cjun,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.8916,0.9035,0.9085,0.85,0.78,0.89,,,,,,,,,,,,,,,,
synonymous_variant,USP20,SILENT,NM_001008563.4:p.Ala158Ala/c.474T>C,gcT/gcC,LOW,,0.884385,0.997,rs10115249,,,,,,chr9,132623868,132623868,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala158Ala/c.474T>C|914|USP20|protein_coding|CODING|NM_001008563.4|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala158Ala/c.474T>C|914|USP20|protein_coding|CODING|NM_001110303.3|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala158Ala/c.474T>C|914|USP20|protein_coding|CODING|NM_006676.7|8|1)","H1ESC:H3K36me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.911,0.9164,0.9215,0.86,0.78,0.90,,,,,,,,,,,,,,,,
missense_variant,USP20,MISSENSE,NM_001008563.4:p.Ser277Asn/c.830G>A,aGc/aAc,MODERATE,COSM1194861(1),0.000798722,0,rs148425010,0.03(D),0.649(P),1.735(L),-1.0652(T),,chr9,132630423,132630423,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser277Asn/c.830G>A|914|USP20|protein_coding|CODING|NM_001008563.4|11|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser277Asn/c.830G>A|914|USP20|protein_coding|CODING|NM_001110303.3|11|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser277Asn/c.830G>A|914|USP20|protein_coding|CODING|NM_006676.7|11|1),upstream_gene_variant(MODIFIER||1461|||MIR6855||NON_CODING|NR_106914.1||1)","H1ESC:H3K36me3,K562:PolII,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0,0,0.004,0.00,0.00,0.01,,0.017146(N),1.000(D),"2.13,2.13,2.13(T,T,T)",0.0869(T),0.161,3.657686,5.18,5.18,0.561000,2.406000,6.152000,0.541000,1.000000,1.000000,17.676
synonymous_variant,USP20,SILENT,NM_001008563.4:p.Leu456Leu/c.1368T>C,ctT/ctC,LOW,COSM1489729(1),0.888978,0.997,rs6478920,,,,,,chr9,132631680,132631680,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu456Leu/c.1368T>C|914|USP20|protein_coding|CODING|NM_001008563.4|13|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu456Leu/c.1368T>C|914|USP20|protein_coding|CODING|NM_001110303.3|13|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu456Leu/c.1368T>C|914|USP20|protein_coding|CODING|NM_006676.7|13|1),upstream_gene_variant(MODIFIER||204|||MIR6855||NON_CODING|NR_106914.1||1)","CD4:CBP,H1ESC:H3K36me3,CD4:H3K18ac,K562:PolII,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,HUVEC:H3K36me3,K562:H3K36me3,CD4:MOF,CD4:H4K8ac,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,CD4:PolII,CD4:HDAC1,CD4:H2BK120ac,CD4:p300,GM06990:H3K36me3,GM06990:DNase1,CD4:H2BK12ac",,,,0.91,0.9207,0.9215,0.87,0.80,0.90,,,,,,,,,,,,,,,,
synonymous_variant,USP20,SILENT,NM_001008563.4:p.Ala724Ala/c.2172G>A,gcG/gcA,LOW,COSM3982750(2),0.207867,0.1885,rs735115,,,,,,chr9,132637712,132637712,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala724Ala/c.2172G>A|914|USP20|protein_coding|CODING|NM_001008563.4|20|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala724Ala/c.2172G>A|914|USP20|protein_coding|CODING|NM_001110303.3|20|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala724Ala/c.2172G>A|914|USP20|protein_coding|CODING|NM_006676.7|20|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:PolII,CD4:H4K91ac,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,IMR90:H3K36me3,K562:CTCFL,K562:Rad21,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.2045,0.2522,0.4066,0.28,0.09,0.36,,,,,,,,,,,,,,,,
missense_variant,FNBP1,MISSENSE,NM_015033.2:p.Ser490Asn/c.1469G>A,aGc/aAc,MODERATE,COSM3763675(1),0.634784,0.7927,rs1023000,,,0.715(N),-0.9174(T),,chr9,132662786,132662786,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser490Asn/c.1469G>A|617|FNBP1|protein_coding|CODING|NM_015033.2|14|1),"H1ESC:H3K36me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.6527,0.507,0.55,0.59,0.52,,,1.000(P),,0.0000(T),.,-0.825795,4.02,2.15,-1.924000,0.131000,0.438000,0.351000,0.000000,0.000000,5.5861
synonymous_variant,FNBP1,SILENT,NM_015033.2:p.His369His/c.1107T>C,caT/caC,LOW,,0.999401,1,rs4836680,,,,-0.9995(T),,chr9,132686186,132686186,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His369His/c.1107T>C|617|FNBP1|protein_coding|CODING|NM_015033.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,0.000(P),,0.0000(T),.,0.945150,5.78,1.1,-0.128000,-0.057000,1.420000,0.986000,0.998000,1.000000,9.9443
synonymous_variant,GPR107,SILENT,NM_001136557.1:p.Leu448Leu/c.1344A>G,ctA/ctG,LOW,,0.960463,1,rs4837460,,,,,,chr9,132872686,132872686,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu448Leu/c.1344A>G|600|GPR107|protein_coding|CODING|NM_001136557.1|15|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu448Leu/c.1344A>G|571|GPR107|protein_coding|CODING|NM_001136558.1|15|1),intron_variant(MODIFIER|||c.739+2868A>G|332|GPR107|protein_coding|CODING|NM_001287346.1|14|1),intron_variant(MODIFIER|||c.1306+2868A>G|552|GPR107|protein_coding|CODING|NM_020960.4|14|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K36me3,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.9632,0.9784,0.992,0.96,0.92,0.98,,,,,,,,,,,,,,,,
synonymous_variant,NCS1,SILENT,NM_014286.3:p.Gly172Gly/c.516T>G,ggT/ggG,LOW,COSM150729(2),0.3127,0.1379,rs2277200,,,,,,chr9,132988709,132988709,T,G,het,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly154Gly/c.462T>G|172|NCS1|protein_coding|CODING|NM_001128826.1|7|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly172Gly/c.516T>G|190|NCS1|protein_coding|CODING|NM_014286.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.1779,0.4683,0.3091,0.37,0.43,0.33,,,,,,,,,,,,,,,,
missense_variant,HMCN2,MISSENSE,NM_001291815.1:p.Arg175His/c.524G>A,cGc/cAc,MODERATE,,0.715655,0.8611,rs6478957,0(D),,2.71(M),-1.0455(T),,chr9,133048501,133048501,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg175His/c.524G>A|4521|HMCN2|protein_coding|CODING|NM_001291815.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6022,0.6311,0.5129,,,,,,,,0.0000(T),0.282,4.751708,5.46,4.57,0.549000,1.298000,6.613000,0.994000,0.918000,1.000000,13.1773
missense_variant,HMCN2,MISSENSE,NM_001291815.1:p.Ala1396Glu/c.4187C>A,gCa/gAa,MODERATE,,0.10004,0.0486,rs61748916,,,0.045(N),-1.0458(T),,chr9,133235901,133235901,C,A,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala1396Glu/c.4187C>A|4521|HMCN2|protein_coding|CODING|NM_001291815.1|27|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.044,0.1182,0.1044,,,,,,0.729(P),,0.0002(T),.,-0.819163,4.18,4.18,0.603000,1.883000,0.990000,0.394000,0.380000,0.930000,10.5338
synonymous_variant,HMCN2,SILENT,NM_001291815.1:p.Leu1405Leu/c.4213C>T,Cta/Tta,LOW,,0.10004,0.0486,rs61748897,,,,-1.0374(T),,chr9,133235927,133235927,C,T,het,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu1405Leu/c.4213C>T|4521|HMCN2|protein_coding|CODING|NM_001291815.1|27|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.044,0.1182,0.1044,,,,,,0.729(P),,0.0002(T),.,0.679015,4.18,0.564,0.603000,0.231000,-0.265000,0.843000,1.000000,0.577000,2.7747
missense_variant,HMCN2,MISSENSE,NM_001291815.1:p.Ala2444Thr/c.7330G>A,Gct/Act,MODERATE,,0.0722843,0.002,rs61734903,,,,-1.0779(T),,chr9,133260082,133260082,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala2444Thr/c.7330G>A|4521|HMCN2|protein_coding|CODING|NM_001291815.1|48|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1186,0.0317,0.0298,,,,,,0.723(N),,0.0006(T),.,-0.209106,5.66,-11.3,-0.188000,-2.704000,-3.260000,0.297000,0.071000,0.000000,1.3391
missense_variant,HMCN2,MISSENSE,NM_001291815.1:p.Cys2616Arg/c.7846T>C,Tgt/Cgt,MODERATE,,0.907348,0.9712,rs7849839,,,,,,chr9,133263923,133263923,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys2616Arg/c.7846T>C|4521|HMCN2|protein_coding|CODING|NM_001291815.1|51|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9325,0.9827,0.996,,,,,,,,,,,,,,,,,,,
missense_variant,HMCN2,MISSENSE,NM_001291815.1:p.Gly2932Arg/c.8794G>A,Gga/Aga,MODERATE,,0.0169728,0.0079,rs80073481,,,,,,chr9,133269361,133269361,G,A,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly2932Arg/c.8794G>A|4521|HMCN2|protein_coding|CODING|NM_001291815.1|57|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0624,0.0029,0.0119,,,,,,,,,,,,,,,,,,,
missense_variant,HMCN2,MISSENSE,NM_001291815.1:p.Arg2941His/c.8822G>A,cGt/cAt,MODERATE,,0.000599042,0,,,,,,,chr9,133269389,133269389,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2941His/c.8822G>A|4521|HMCN2|protein_coding|CODING|NM_001291815.1|57|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0.003,,,,,,,,,,,,,,,,,,,
synonymous_variant,HMCN2,SILENT,NM_001291815.1:p.Gly3664Gly/c.10992C>T,ggC/ggT,LOW,,0.000998403,0,rs146082211,,,,,,chr9,133283069,133283069,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly3664Gly/c.10992C>T|4521|HMCN2|protein_coding|CODING|NM_001291815.1|72|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0.0014,0.004,,,,,,,,,,,,,,,,,,,
synonymous_variant,HMCN2,SILENT,NM_001291815.1:p.Pro3732Pro/c.11196G>A,ccG/ccA,LOW,,0.5627,0.5248,rs10793975,,,,,,chr9,133284310,133284310,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro3732Pro/c.11196G>A|4521|HMCN2|protein_coding|CODING|NM_001291815.1|73|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,IMR90:H3K27me3,H1ESC:CTCF",,,,0.6411,0.5303,0.7416,,,,,,,,,,,,,,,,,,,
synonymous_variant,FUBP3,SILENT,NM_003934.1:p.His529His/c.1587C>T,caC/caT,LOW,,0.00439297,0,rs117877479,,,,,,chr9,133511390,133511390,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His529His/c.1587C>T|572|FUBP3|protein_coding|CODING|NM_003934.1|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0058,0.0169,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,PRDM12,SILENT,NM_021619.2:p.Pro216Pro/c.648C>T,ccC/ccT,LOW,COSM4007072(1),0.377995,0.4722,rs7021384,,,,,,chr9,133553993,133553993,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro216Pro/c.648C>T|367|PRDM12|protein_coding|CODING|NM_021619.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3476,0.451,0.3211,0.33,0.35,0.32,,,,,,,,,,,,,,,,
synonymous_variant,PRDM12,SILENT,NM_021619.2:p.Pro326Pro/c.978C>T,ccC/ccT,LOW,,0.343051,0.5367,rs12004652,,,,,,chr9,133556930,133556930,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro326Pro/c.978C>T|367|PRDM12|protein_coding|CODING|NM_021619.2|5|1),"HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HUVEC:Max,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.3272,0.3487,0.159,0.16,0.25,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ABL1,SILENT,NM_007313.2:p.Glu518Glu/c.1554A>G,gaA/gaG,LOW,,0.0856629,0.001,rs2227985,,,,,,chr9,133755528,133755528,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu499Glu/c.1497A>G|1130|ABL1|protein_coding|CODING|NM_005157.5|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu518Glu/c.1554A>G|1149|ABL1|protein_coding|CODING|NM_007313.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0286,0.0836,0.0696,0.11,0.17,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ABL1,SILENT,NM_007313.2:p.Pro803Pro/c.2409C>G,ccC/ccG,LOW,COSM3720677(2),0.106629,0.001,rs2229070,,,,,,chr9,133760029,133760029,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro784Pro/c.2352C>G|1130|ABL1|protein_coding|CODING|NM_005157.5|11|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro803Pro/c.2409C>G|1149|ABL1|protein_coding|CODING|NM_007313.2|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:Znf263,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0307,0.0865,0.0696,0.12,0.22,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ABL1,SILENT,NM_007313.2:p.Pro1127Pro/c.3381A>G,ccA/ccG,LOW,,0.654153,0.5952,rs1056171,,,,,,chr9,133761001,133761001,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1108Pro/c.3324A>G|1130|ABL1|protein_coding|CODING|NM_005157.5|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1127Pro/c.3381A>G|1149|ABL1|protein_coding|CODING|NM_007313.2|11|1)","H1ESC:H3K36me3,K562:PolII,K562:Nfe2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:Znf263,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.547,0.6974,0.4881,0.58,0.82,0.47,,,,,,,,,,,,,,,,
synonymous_variant,QRFP,SILENT,NM_198180.1:p.Phe19Phe/c.57C>T,ttC/ttT,LOW,,0.356629,0.0714,rs3847193,,,,,,chr9,133769169,133769169,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe19Phe/c.57C>T|136|QRFP|protein_coding|CODING|NM_198180.1|1|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:Max,K562:PolII,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,K562:FAIRE,HSMM:H3K36me3,K562:Znf263,K562:USF1,K562:Gabp,K562:Cmyc,IMR90:H3K36me3,K562:E2F6,K562:H4K20me1,K562:ELF1,K562:Rad21,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:SP1,K562:Srf,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.2843,0.2939,0.2475,0.39,0.65,0.26,,,,,,,,,,,,,,,,
synonymous_variant,LAMC3,SILENT,NM_006059.3:p.Ala285Ala/c.855A>G,gcA/gcG,LOW,COSM4163429(1),0.848243,0.8343,rs2275132,,,,,,chr9,133911598,133911598,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala285Ala/c.855A>G|1575|LAMC3|protein_coding|CODING|NM_006059.3|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,RCV000117481.2,,0.7362,0.853,0.8181,0.87,0.95,0.83,,,,,,,,,,,,,,,,
synonymous_variant,LAMC3,SILENT,NM_006059.3:p.Ala321Ala/c.963C>T,gcC/gcT,LOW,COSM455480(1),0.398363,0.6647,rs2275131,,,,,,chr9,133911706,133911706,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala321Ala/c.963C>T|1575|LAMC3|protein_coding|CODING|NM_006059.3|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,RCV000117484.2,,0.2935,0.4885,0.4791,0.40,0.22,0.49,,,,,,,,,,,,,,,,
synonymous_variant,LAMC3,SILENT,NM_006059.3:p.Thr406Thr/c.1218G>A,acG/acA,LOW,COSM1180464(1),0.154952,0.1399,rs2293518,,,,,,chr9,133914570,133914570,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr406Thr/c.1218G>A|1575|LAMC3|protein_coding|CODING|NM_006059.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:Srf,K562:DNase1",,RCV000117456.2,,0.1022,0.2061,0.2445,0.21,0.11,0.25,,,,,,,,,,,,,,,,
missense_variant,LAMC3,MISSENSE,NM_006059.3:p.Pro522Ser/c.1564C>T,Ccc/Tcc,MODERATE,COSM3763678(1),0.258586,0.246,rs869457,0.92(T),0.074(B),1.36(L),-1.0137(T),,chr9,133924451,133924451,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro522Ser/c.1564C>T|1575|LAMC3|protein_coding|CODING|NM_006059.3|9|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,RCV000117458.2,,0.2607,0.2133,0.3241,0.27,0.22,0.30,,0.002376(N),1.000(P),1.64(T),0.0000(T),0.105,-0.289380,4.78,3.88,0.555000,1.389000,2.134000,0.015000,0.042000,0.146000,8.9877
missense_variant,LAMC3,MISSENSE,NM_006059.3:p.Glu544Gly/c.1631A>G,gAg/gGg,MODERATE,COSM3763679(1),0.471246,0.4325,rs10901333,,0.071(B),1.78(L),-0.9260(T),,chr9,133927878,133927878,A,G,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu544Gly/c.1631A>G|1575|LAMC3|protein_coding|CODING|NM_006059.3|10|1),splice_region_variant(LOW|||c.1631A>G|1575|LAMC3|protein_coding|CODING|NM_006059.3|10|1)","K562:CTCF,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,RCV000117459.2,,0.4775,0.3314,0.497,0.50,0.53,0.48,,0.000121(D),0.152(P),1.13(T),0.0000(T),0.184,1.691384,5.42,4.25,0.459000,0.859000,1.458000,0.229000,0.993000,1.000000,6.6242
synonymous_variant,LAMC3,SILENT,NM_006059.3:p.Ser644Ser/c.1932C>T,agC/agT,LOW,COSM3763680(2),0.479832,0.4226,rs12349966,,,,,,chr9,133928345,133928345,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser644Ser/c.1932C>T|1575|LAMC3|protein_coding|CODING|NM_006059.3|11|1),"K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,K562:Znf263,HeLa-S3:CTCF,K562:H3K27me3,K562:H4K20me1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:Srf,K562:DNase1",,RCV000117461.2,,0.4724,0.3271,0.4642,0.49,0.58,0.45,,,,,,,,,,,,,,,,
missense_variant,LAMC3,MISSENSE,NM_006059.3:p.Arg770Gly/c.2308C>G,Cgg/Ggg,MODERATE,COSM3763681(2),0.786741,0.5536,rs3739510,0.5(T),0.003(B),-1.62(N),-1.0010(T),,chr9,133936571,133936571,C,G,hom,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg770Gly/c.2308C>G|1575|LAMC3|protein_coding|CODING|NM_006059.3|13|1),"GM12878:H3K36me3,K562:Znf263,K562:SETDB1,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,RCV000117463.2,,0.7832,0.6859,0.8459,0.87,0.94,0.83,,0.007943(N),1.000(P),0.05(T),0.0000(T),0.021,-0.415078,4.79,-0.33,-0.224000,-0.808000,-0.712000,0.749000,0.668000,0.000000,7.2844
missense_variant,LAMC3,MISSENSE,NM_006059.3:p.Ser1082Gly/c.3244A>G,Agc/Ggc,MODERATE,COSM455482(4),0.699081,0.6419,rs2275140,0.52(T),0.001(B),0(N),-1.0268(T),,chr9,133948049,133948049,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1082Gly/c.3244A>G|1575|LAMC3|protein_coding|CODING|NM_006059.3|19|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:Znf263,K562:H3K27me3,K562:H4K20me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,RCV000117467.2,,0.8057,0.6614,0.8579,0.77,0.62,0.84,,0.511802(N),1.000(P),1.64(T),0.0000(T),0.011,-0.545735,5.07,2.24,-0.222000,0.032000,0.723000,0.059000,0.041000,0.070000,7.9087
missense_variant,LAMC3,MISSENSE,NM_006059.3:p.Thr1433Met/c.4298C>T,aCg/aTg,MODERATE,COSM3763684(1),0.222045,0.1855,rs7024108,,,1.79(L),-0.9583(T),,chr9,133962930,133962930,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1433Met/c.4298C>T|1575|LAMC3|protein_coding|CODING|NM_006059.3|26|1),"H1ESC:H3K36me3,GM06990:H3K27me3,K562:Nfe2,GM12878:H3K36me3,K562:Znf263,K562:H3K27me3,K562:H4K20me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:Nrsf,HepG2:H3K27me3,K562:Srf,K562:DNase1",,RCV000117472.2,,0.1616,0.2075,0.337,0.30,0.23,0.34,,,1.000(P),,0.0000(T),.,1.523552,4.74,2.92,-0.251000,0.621000,1.156000,0.045000,0.228000,0.111000,7.0722
synonymous_variant,NUP214,SILENT,NM_005085.3:p.Thr628Thr/c.1884A>G,acA/acG,LOW,COSM150730(1),0.346446,0.4276,rs2296710,,,,,,chr9,134021630,134021630,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr628Thr/c.1884A>G|2090|NUP214|protein_coding|CODING|NM_005085.3|13|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4622,0.2277,0.3191,0.30,0.27,0.32,,,,,,,,,,,,,,,,
missense_variant,FAM78A,MISSENSE,NM_033387.3:p.Arg230Gln/c.689G>A,cGg/cAg,MODERATE,,0.000199681,0,rs143378086,0.01(D),"0.027,0.315(B,B)",1.385(L),0.0070(D),,chr9,134136372,134136372,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg230Gln/c.689G>A|283|FAM78A|protein_coding|CODING|NM_033387.3|2|1),"K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:DNase1",,,,0,0,0,0.00,0.00,0.00,,0.010829(N),0.921(N),"-3.35,-3.35,-3.35(D,D,D)",0.6086(D),0.214,3.127800,4.75,3.59,0.462000,2.337000,0.324000,0.950000,0.989000,0.001000,3.8728
synonymous_variant,FAM78A,SILENT,NM_033387.3:p.Asn182Asn/c.546T>C,aaT/aaC,LOW,,0.91873,0.9752,rs352952,,,,,,chr9,134136515,134136515,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn182Asn/c.546T>C|283|FAM78A|protein_coding|CODING|NM_033387.3|2|1),"K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:DNase1",,,,0.9785,0.9625,0.996,0.93,0.79,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FAM78A,SILENT,NM_033387.3:p.Asp128Asp/c.384T>C,gaT/gaC,LOW,,0.919728,0.9742,rs352951,,,,,,chr9,134136677,134136677,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp128Asp/c.384T>C|283|FAM78A|protein_coding|CODING|NM_033387.3|2|1),"K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:DNase1",,,,0.9796,0.9625,0.996,0.93,0.80,1.00,,,,,,,,,,,,,,,,
missense_variant,PPAPDC3,MISSENSE,NM_032728.3:p.Thr174Met/c.521C>T,aCg/aTg,MODERATE,COSM3750159(4),0.623403,0.7252,rs2966332,0.27(T),0.002(B),-0.475(N),-0.9227(T),,chr9,134183379,134183379,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr174Met/c.521C>T|271|PPAPDC3|protein_coding|CODING|NM_032728.3|2|1),"CD4:H4K91ac,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6738,0.6499,0.7416,0.66,0.47,0.75,,0.001179(N),0.000(P),-0.9(T),0.0000(T),0.051,1.215704,4.68,3.5,0.505000,2.296000,3.020000,0.293000,0.918000,1.000000,3.8455
synonymous_variant,PPAPDC3,SILENT,NM_032728.3:p.Arg215Arg/c.645T>C,cgT/cgC,LOW,COSM3763686(2),0.635383,0.7312,rs2986606,,,,,,chr9,134183503,134183503,T,C,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg215Arg/c.645T>C|271|PPAPDC3|protein_coding|CODING|NM_032728.3|2|1),"CD4:H4K91ac,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6738,0.6513,0.7416,0.67,0.50,0.75,,,,,,,,,,,,,,,,
synonymous_variant,PRRC2B,SILENT,NM_013318.3:p.Arg684Arg/c.2052T>C,cgT/cgC,LOW,COSM4163438(1),0.858826,0.9196,rs4310250,,,,,,chr9,134346315,134346315,T,C,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg684Arg/c.2052T>C|2229|PRRC2B|protein_coding|CODING|NM_013318.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9744,0.8242,0.9245,0.88,0.76,0.94,,,,,,,,,,,,,,,,
missense_variant,PRRC2B,MISSENSE,NM_013318.3:p.Thr936Ser/c.2807C>G,aCc/aGc,MODERATE,,0.769569,0.9395,rs10736851,,0.008(B),0.345(N),-1.0299(T),,chr9,134350323,134350323,C,G,hom,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr936Ser/c.2807C>G|2229|PRRC2B|protein_coding|CODING|NM_013318.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9438,0.7478,0.7654,0.74,0.59,0.81,,,0.000(P),2.94(T),0.0000(T),0.026,1.960869,5.61,4.69,0.655000,1.321000,1.269000,0.754000,1.000000,0.957000,13.9405
missense_variant,PRRC2B,MISSENSE,NM_013318.3:p.Pro981Leu/c.2942C>T,cCc/cTc,MODERATE,,0.76877,0.9395,rs10751478,,0.0(B),0(N),-1.0185(T),,chr9,134350458,134350458,C,T,hom,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro981Leu/c.2942C>T|2229|PRRC2B|protein_coding|CODING|NM_013318.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9438,0.7478,0.7654,0.74,0.60,0.81,,,1.000(P),4.68(T),0.0000(T),0.054,-1.254689,5.87,-10.7,-0.165000,-2.096000,-0.817000,0.001000,0.000000,0.000000,3.4277
missense_variant,PRRC2B,MISSENSE,NM_013318.3:p.Met1044Thr/c.3131T>C,aTg/aCg,MODERATE,,0.98123,1,rs10793873,,0.0(B),-1.61(N),-0.9457(T),,chr9,134350647,134350647,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1044Thr/c.3131T>C|2229|PRRC2B|protein_coding|CODING|NM_013318.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,1,0.98,0.93,1.00,,,0.000(P),4.8(T),0.0000(T),0.068,-1.593519,5.96,5.96,-0.119000,1.551000,4.348000,0.438000,0.023000,0.993000,9.4489
synonymous_variant,PRRC2B,SILENT,NM_013318.3:p.Gly1183Gly/c.3549G>T,ggG/ggT,LOW,,0.873403,0.9415,rs7858488,,,,,,chr9,134351065,134351065,G,T,hom,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1183Gly/c.3549G>T|2229|PRRC2B|protein_coding|CODING|NM_013318.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9775,0.8242,0.9304,0.88,0.75,0.94,,,,,,,,,,,,,,,,
missense_variant,PRRC2B,MISSENSE,NM_013318.3:p.Ala1276Val/c.3827C>T,gCg/gTg,MODERATE,COSM4163440(1),0.335663,0.1161,rs11243403,0.29(T),"0.0,0.0(B,B)",-0.69(N),-1.0975(T),,chr9,134351343,134351343,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1276Val/c.3827C>T|2229|PRRC2B|protein_coding|CODING|NM_013318.3|15|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.2945,0.3228,0.5586,0.53,0.42,0.59,,,1.000(P),4.59(T),0.0000(T),0.166,-0.588965,5.66,0.799,-0.302000,-0.091000,0.735000,0.019000,0.003000,0.020000,5.3177
missense_variant,POMT1,MISSENSE,NM_007171.3:p.Gln251Arg/c.752A>G,cAg/cGg,MODERATE,,0.870607,0.9246,rs2296949,,0.0(B),0.55(N),-0.9236(T),,chr9,134385436,134385436,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln251Arg/c.752A>G|747|POMT1|protein_coding|CODING|NM_007171.3|8|1),intron_variant(MODIFIER|||c.699+53A>G|725|POMT1|protein_coding|CODING|NM_001077365.1|8|1),intron_variant(MODIFIER|||c.537+53A>G|671|POMT1|protein_coding|CODING|NM_001077366.1|7|1),intron_variant(MODIFIER|||c.699+53A>G|725|POMT1|protein_coding|CODING|NM_001136113.1|8|1),intron_variant(MODIFIER|||c.348+53A>G|608|POMT1|protein_coding|CODING|NM_001136114.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081493.1,,0.9744,0.8343,0.9423,0.88,0.74,0.95,,0.000543(N),1.000(P),"-1.02,-1.56,-1.24(T,D,T)",0.0000(T),0.246,-1.123557,2.2,1.25,-0.215000,0.060000,1.328000,0.047000,0.002000,0.303000,3.5013
synonymous_variant,POMT1,SILENT,NM_007171.3:p.Thr314Thr/c.942T>C,acT/acC,LOW,,0.870807,0.9246,rs10901065,0.04(D),,,-0.9777(T),,chr9,134386744,134386744,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr292Thr/c.876T>C|725|POMT1|protein_coding|CODING|NM_001077365.1|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr238Thr/c.714T>C|671|POMT1|protein_coding|CODING|NM_001077366.1|9|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr292Thr/c.876T>C|725|POMT1|protein_coding|CODING|NM_001136113.1|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr175Thr/c.525T>C|608|POMT1|protein_coding|CODING|NM_001136114.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr314Thr/c.942T>C|747|POMT1|protein_coding|CODING|NM_007171.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9744,0.8343,0.9423,0.88,0.74,0.95,,,0.000(P),-2.9(D),0.0000(T),.,1.081633,5.13,0.213,-0.213000,-0.485000,-1.726000,0.777000,0.977000,0.001000,1.0289
synonymous_variant,POMT1,SILENT,NM_007171.3:p.Asp371Asp/c.1113T>C,gaT/gaC,LOW,,0.870807,0.9246,rs3739494,,,,,,chr9,134387488,134387488,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp349Asp/c.1047T>C|725|POMT1|protein_coding|CODING|NM_001077365.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp295Asp/c.885T>C|671|POMT1|protein_coding|CODING|NM_001077366.1|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp349Asp/c.1047T>C|725|POMT1|protein_coding|CODING|NM_001136113.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp232Asp/c.696T>C|608|POMT1|protein_coding|CODING|NM_001136114.1|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp371Asp/c.1113T>C|747|POMT1|protein_coding|CODING|NM_007171.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9744,0.8343,0.9423,0.88,0.74,0.95,,,,,,,,,,,,,,,,
missense_variant,UCK1,MISSENSE,NM_001135954.1:p.Ala180Thr/c.538G>A,Gcg/Acg,MODERATE,,0.811901,0.9236,rs2296957,0(D),0.014(B),,-1.0007(T),,chr9,134401335,134401335,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala180Thr/c.538G>A|201|UCK1|protein_coding|CODING|NM_001135954.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro202Pro/c.606G>A|268|UCK1|protein_coding|CODING|NM_001261450.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro216Pro/c.648G>A|282|UCK1|protein_coding|CODING|NM_001261451.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro211Pro/c.633G>A|277|UCK1|protein_coding|CODING|NM_031432.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9744,0.8127,0.9215,0.83,0.60,0.95,,,0.000(P),,0.0000(T),.,1.785333,4.97,-5.08,-0.397000,-1.075000,-1.779000,0.175000,0.908000,0.001000,8.4369
missense_variant,UCK1,MISSENSE,NM_001261451.1:p.Glu29Gln/c.85G>C,Gag/Cag,MODERATE,,0.86222,0.999,rs7867616,,,,-1.0074(T),,chr9,134406071,134406071,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu29Gln/c.85G>C|282|UCK1|protein_coding|CODING|NM_001261451.1|2|1),intron_variant(MODIFIER|||c.109-39G>C|201|UCK1|protein_coding|CODING|NM_001135954.1|1|1),intron_variant(MODIFIER|||c.109-39G>C|277|UCK1|protein_coding|CODING|NM_031432.2|1|1),intron_variant(MODIFIER|||c.82-39G>C|268|UCK1|protein_coding|CODING|NM_001261450.1|1|1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HUVEC:CTCF,GM12878:H3K79me2,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9744,0.8905,0.838,0.81,0.71,0.86,,,1.000(P),,0.0000(T),0.123,1.028618,3.49,2.57,-0.455000,0.432000,0.335000,0.004000,0.000000,0.000000,8.773
synonymous_variant,NTNG2,SILENT,NM_032536.2:p.Tyr276Tyr/c.828C>T,taC/taT,LOW,COSM455513(1),0.0950479,0.119,rs3739930,,,,,,chr9,135073967,135073967,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr276Tyr/c.828C>T|530|NTNG2|protein_coding|CODING|NM_032536.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1176,0.0793,0.1223,0.09,0.04,0.11,,,,,,,,,,,,,,,,
synonymous_variant,NTNG2,SILENT,NM_032536.2:p.His292His/c.876C>T,caC/caT,LOW,COSM3763692(4),0.57488,0.4306,rs2149171,,,,,,chr9,135102254,135102254,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His292His/c.876C>T|530|NTNG2|protein_coding|CODING|NM_032536.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6595,0.5879,0.6243,0.60,0.57,0.62,,,,,,,,,,,,,,,,
missense_variant,NTNG2,MISSENSE,NM_032536.2:p.Thr346Ala/c.1036A>G,Act/Gct,MODERATE,,0.998602,1,rs4962173,1(T),0.0(B),0(N),-0.9356(T),,chr9,135105964,135105964,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr346Ala/c.1036A>G|530|NTNG2|protein_coding|CODING|NM_032536.2|5|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.999,1,0.996,1.00,1.00,1.00,,,0.000(P),"0.97,-0.28(T,T)",0.0000(T),0.101,-0.725565,5.07,5.07,-0.224000,1.143000,2.079000,0.254000,0.832000,0.984000,9.7555
missense_variant,SETX,MISSENSE,NM_015046.5:p.Ile1386Val/c.4156A>G,Ata/Gta,MODERATE,COSM3982759(2),0.55611,0.3621,rs386598668,1(T),"0.0,0.0,0.0(B,B,B)",0.49(N),-0.9302(T),,chr9,135202829,135202829,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1386Val/c.4156A>G|2677|SETX|protein_coding|CODING|NM_015046.5|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081696.3,,0.6268,0.7723,0.8618,0.69,0.40,0.85,,0.000028(N),1.000(P),"-1.98,-2.08,-1.69(D,D,D)",0.0000(T),0.025,-3.135389,5.51,-1.62,-3.135000,-0.538000,-0.658000,0.000000,0.000000,0.000000,6.2259
missense_variant,SETX,MISSENSE,NM_015046.5:p.Gly1252Arg/c.3754G>A,Gga/Aga,MODERATE,COSM3982760(1),0.55611,0.3621,rs1183768,0.57(T),"0.403,0.11,0.403(B,B,B)",1.67(L),-0.9330(T),,chr9,135203231,135203231,C,T,hom,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1252Arg/c.3754G>A|2677|SETX|protein_coding|CODING|NM_015046.5|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081695.3,,0.6268,0.7723,0.8618,0.69,0.40,0.84,,0.563400(N),0.379(P),"-2.01,-2.11,-1.72(D,D,D)",0.0000(T),0.246,0.881670,5.8,4.72,0.650000,2.741000,0.490000,0.386000,0.999000,0.005000,13.6111
missense_variant,SETX,MISSENSE,NM_015046.5:p.Asp1192Glu/c.3576T>G,gaT/gaG,MODERATE,,0.640575,0.3681,rs1185193,0.28(T),"0.006,0.003,0.006(B,B,B)",0.805(L),-0.9143(T),,chr9,135203409,135203409,A,C,hom,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp1192Glu/c.3576T>G|2677|SETX|protein_coding|CODING|NM_015046.5|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081694.3,,0.6401,0.8055,0.8757,0.79,0.66,0.86,,0.000000(N),1.000(P),"-2.09,-2.17,-1.79(D,D,D)",0.0000(T),0.006,2.288123,5.69,-9.5,-1.469000,-2.073000,-0.995000,0.001000,0.000000,0.000000,16.3793
synonymous_variant,SETX,SILENT,NM_015046.5:p.Tyr359Tyr/c.1077T>C,taT/taC,LOW,COSM150734(2),0.626597,0.374,rs9411449,,,,,,chr9,135206460,135206460,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr359Tyr/c.1077T>C|2677|SETX|protein_coding|CODING|NM_015046.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081691.3,,0.6278,0.7911,0.8628,0.78,0.64,0.85,,,,,,,,,,,,,,,,
synonymous_variant,TTF1,SILENT,NM_007344.3:p.Ile755Ile/c.2265C>A,atC/atA,LOW,,0.901757,0.9722,rs386505282,,,,,,chr9,135263573,135263573,G,T,hom,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile240Ile/c.720C>A|390|TTF1|protein_coding|CODING|NM_001205296.1|7|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile755Ile/c.2265C>A|905|TTF1|protein_coding|CODING|NM_007344.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9765,0.9611,0.994,0.91,0.74,0.99,,,,,,,,,,,,,,,,
synonymous_variant,TTF1,SILENT,NM_007344.3:p.Leu566Leu/c.1698G>C,ctG/ctC,LOW,,0.71865,0.7103,rs504525,,,,,,chr9,135273607,135273607,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu51Leu/c.153G>C|390|TTF1|protein_coding|CODING|NM_001205296.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu566Leu/c.1698G>C|905|TTF1|protein_coding|CODING|NM_007344.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7607,0.8199,0.8529,0.76,0.58,0.86,,,,,,,,,,,,,,,,
missense_variant,C9orf171,MISSENSE,NM_207417.2:p.Gly137Arg/c.409G>A,Gga/Aga,MODERATE,COSM3763706(2),0.186302,0.4792,rs7047726,0.14(T),"0.301,0.601(B,P)",1.1(L),-0.8353(T),,chr9,135374764,135374764,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly101Arg/c.301G>A|284|C9orf171|protein_coding|CODING|NM_001282957.1|3|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly137Arg/c.409G>A|320|C9orf171|protein_coding|CODING|NM_207417.2|4|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1524,0.1354,0.0716,0.09,0.10,0.08,,0.012760(N),0.003(P),"1.97,1.97,1.97(T,T,T)",0.0000(T),0.716,4.260770,5.26,5.26,0.561000,2.618000,4.531000,0.835000,0.992000,1.000000,18.212
synonymous_variant,C9orf171,SILENT,NM_207417.2:p.Asn181Asn/c.543T>C,aaT/aaC,LOW,COSM1132566(4),0.678315,0.8254,rs562350,,,,,,chr9,135374898,135374898,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn145Asn/c.435T>C|284|C9orf171|protein_coding|CODING|NM_001282957.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn181Asn/c.543T>C|320|C9orf171|protein_coding|CODING|NM_207417.2|4|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5665,0.572,0.4831,0.62,0.80,0.54,,,,,,,,,,,,,,,,
missense_variant,C9orf171,MISSENSE,NM_207417.2:p.Lys244Gln/c.730A>C,Aag/Cag,MODERATE,,0.023762,0,rs34650498,0.29(T),"0.099,0.155(B,B)",0.805(L),-1.1095(T),,chr9,135413085,135413085,A,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys208Gln/c.622A>C|284|C9orf171|protein_coding|CODING|NM_001282957.1|4|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys244Gln/c.730A>C|320|C9orf171|protein_coding|CODING|NM_207417.2|5|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0102,0.0432,0.0646,0.05,0.02,0.07,,0.104451(N),1.000(N),"1.93,1.93(T,T)",0.0044(T),0.238,3.235663,5.65,5.65,0.533000,2.146000,3.201000,0.978000,0.995000,1.000000,13.6318
missense_variant,DDX31,MISSENSE,NM_022779.7:p.Ile799Val/c.2395A>G,Atc/Gtc,MODERATE,COSM4163463(1),0.826877,0.7183,rs306547,0.4(T),"0.0,0.0(B,B)",-0.69(N),-1.0282(T),,chr9,135470414,135470414,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile799Val/c.2395A>G|851|DDX31|protein_coding|CODING|NM_022779.7|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8292,0.8444,0.7744,0.81,0.92,0.75,,0.000705(N),1.000(P),"4.44,3.99,4.41(T,T,T)",0.0000(T),0.103,-1.070575,4.21,-2.58,-0.213000,-1.297000,-0.392000,0.005000,0.000000,0.000000,5.6774
synonymous_variant,GTF3C4,SILENT,NM_012204.2:p.Glu520Glu/c.1560G>A,gaG/gaA,LOW,COSM292408(1),0.51278,0.5714,rs371169,,,,,,chr9,135554566,135554566,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu520Glu/c.1560G>A|822|GTF3C4|protein_coding|CODING|NM_012204.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3906,0.4971,0.4036,0.46,0.61,0.39,,,,,,,,,,,,,,,,
synonymous_variant,C9orf9,SILENT,NM_018956.3:p.Ser107Ser/c.321C>T,agC/agT,LOW,,,,,,,,,,chr9,135762932,135762932,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser107Ser/c.321C>T|168|C9orf9|protein_coding|CODING|NM_018956.3|3|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,C9orf9,SILENT,NM_018956.3:p.Leu163Leu/c.487C>T,Ctg/Ttg,LOW,COSM3982761(1),0.202875,0.2659,rs2073869,,,,,,chr9,135763816,135763816,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu163Leu/c.487C>T|168|C9orf9|protein_coding|CODING|NM_018956.3|4|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.1943,0.1282,0.1988,0.18,0.20,0.17,,,,,,,,,,,,,,,,
synonymous_variant,CEL,SILENT,NM_001807.4:p.Pro573Pro/c.1719C>T,ccC/ccT,LOW,,0.191494,0.1925,rs488087,,,,,,chr9,135946599,135946599,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro573Pro/c.1719C>T|756|CEL|protein_coding|CODING|NM_001807.4|11|1),"IMR90:H3K36me3,K562:Egr1,NHEK:H3K36me3",,RCV000116657.2,,0.0613,0.3012,0.3091,0.25,0.15,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RALGDS,SILENT,NM_006266.3:p.Leu880Leu/c.2640C>G,ctC/ctG,LOW,,0.827476,0.7937,rs1062356,,,,,,chr9,135974079,135974079,G,C,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu825Leu/c.2475C>G|859|RALGDS|protein_coding|CODING|NM_001042368.2|18|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu851Leu/c.2553C>G|885|RALGDS|protein_coding|CODING|NM_001271774.1|18|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu879Leu/c.2637C>G|913|RALGDS|protein_coding|CODING|NM_001271775.1|18|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu868Leu/c.2604C>G|902|RALGDS|protein_coding|CODING|NM_001271776.1|18|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu880Leu/c.2640C>G|914|RALGDS|protein_coding|CODING|NM_006266.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8108,0.8444,0.8181,0.85,0.86,0.85,,,,,,,,,,,,,,,,
missense_variant,RALGDS,MISSENSE,NM_006266.3:p.Ile724Leu/c.2170A>C,Atc/Ctc,MODERATE,,0.00938498,0,rs34170541,0.64(T),"0.001,0.01,0.135,0.023,0.004,0.002,0.01,0.013(B,B,B,B,B,B,B,B)",0.805(L),-1.0101(T),,chr9,135977366,135977366,T,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile669Leu/c.2005A>C|859|RALGDS|protein_coding|CODING|NM_001042368.2|15|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile695Leu/c.2083A>C|885|RALGDS|protein_coding|CODING|NM_001271774.1|15|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile723Leu/c.2167A>C|913|RALGDS|protein_coding|CODING|NM_001271775.1|15|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile712Leu/c.2134A>C|902|RALGDS|protein_coding|CODING|NM_001271776.1|15|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile724Leu/c.2170A>C|914|RALGDS|protein_coding|CODING|NM_006266.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0187,0.0268,0.02,0.01,0.03,,0.305070(N),0.857(N),"1.75,1.27,1.76,1.73,1.91,1.26,1.93(T,T,T,T,T,T,T)",0.0164(T),0.176,1.999327,5.49,-1.79,-0.441000,-0.592000,0.772000,0.714000,0.983000,1.000000,6.684
synonymous_variant,RALGDS,SILENT,NM_006266.3:p.Ser487Ser/c.1461T>G,tcT/tcG,LOW,,0.194489,0.1577,rs2073822,,,,,,chr9,135982088,135982088,A,C,het,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser432Ser/c.1296T>G|859|RALGDS|protein_coding|CODING|NM_001042368.2|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser458Ser/c.1374T>G|885|RALGDS|protein_coding|CODING|NM_001271774.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser486Ser/c.1458T>G|913|RALGDS|protein_coding|CODING|NM_001271775.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser475Ser/c.1425T>G|902|RALGDS|protein_coding|CODING|NM_001271776.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser487Ser/c.1461T>G|914|RALGDS|protein_coding|CODING|NM_006266.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.317,0.2962,0.26,0.17,0.30,,,,,,,,,,,,,,,,
synonymous_variant,RALGDS,SILENT,NM_006266.3:p.Ala356Ala/c.1068A>G,gcA/gcG,LOW,COSM3763716(1),0.288938,0.1577,rs2285375,,,,,,chr9,135983504,135983504,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala301Ala/c.903A>G|859|RALGDS|protein_coding|CODING|NM_001042368.2|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala327Ala/c.981A>G|885|RALGDS|protein_coding|CODING|NM_001271774.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala355Ala/c.1065A>G|913|RALGDS|protein_coding|CODING|NM_001271775.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala344Ala/c.1032A>G|902|RALGDS|protein_coding|CODING|NM_001271776.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala356Ala/c.1068A>G|914|RALGDS|protein_coding|CODING|NM_006266.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.353,0.2972,0.35,0.44,0.31,,,,,,,,,,,,,,,,
synonymous_variant,RALGDS,SILENT,NM_006266.3:p.Val125Val/c.375G>A,gtG/gtA,LOW,COSM4163476(1),0.248602,0.3204,rs3761824,,,,,,chr9,135985796,135985796,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val70Val/c.210G>A|859|RALGDS|protein_coding|CODING|NM_001042368.2|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val108Val/c.324G>A|885|RALGDS|protein_coding|CODING|NM_001271774.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val124Val/c.372G>A|913|RALGDS|protein_coding|CODING|NM_001271775.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val125Val/c.375G>A|902|RALGDS|protein_coding|CODING|NM_001271776.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val125Val/c.375G>A|914|RALGDS|protein_coding|CODING|NM_006266.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3384,0.2161,0.2704,0.26,0.16,0.31,,,,,,,,,,,,,,,,
missense_variant,GBGT1,MISSENSE,NM_001282629.1:p.Ala284Val/c.851C>T,gCa/gTa,MODERATE,,0.0419329,0.002,rs35902535,0(D),,,-1.1726(T),,chr9,136029138,136029138,G,A,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala284Val/c.851C>T|294|GBGT1|protein_coding|CODING|NM_001282629.1|7|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly273Gly/c.819C>T|330|GBGT1|protein_coding|CODING|NM_001282632.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly243Gly/c.729C>T|300|GBGT1|protein_coding|CODING|NM_001288572.1|7|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly154Gly/c.462C>T|211|GBGT1|protein_coding|CODING|NM_001288573.1|7|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly290Gly/c.870C>T|347|GBGT1|protein_coding|CODING|NM_021996.5|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0573,0.0403,0.0795,0.06,0.05,0.07,,,1.000(D),1.91(T),0.0042(T),.,2.022220,5.38,2.31,0.561000,0.542000,0.761000,0.929000,0.992000,0.629000,5.0909
stop_gained,GBGT1,NONSENSE,NM_021996.5:p.Tyr121*/c.363C>A,taC/taA,HIGH,COSM3763718(1),0.0429313,0.002,rs35898523,0.94(T),,,-1.1171(T),,chr9,136029645,136029645,G,T,het,"stop_gained(HIGH|NONSENSE|taC/taA|p.Tyr104*/c.312C>A|330|GBGT1|protein_coding|CODING|NM_001282632.1|6|1),stop_gained(HIGH|NONSENSE|taC/taA|p.Tyr74*/c.222C>A|300|GBGT1|protein_coding|CODING|NM_001288572.1|7|1),stop_gained(HIGH|NONSENSE|taC/taA|p.Tyr121*/c.363C>A|347|GBGT1|protein_coding|CODING|NM_021996.5|7|1),5_prime_UTR_variant(MODIFIER||46|c.-46C>A|211|GBGT1|protein_coding|CODING|NM_001288573.1|7|1),intron_variant(MODIFIER|||c.360-16C>A|294|GBGT1|protein_coding|CODING|NM_001282629.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0583,0.0418,0.0815,0.06,0.05,0.07,,,1.000(D),1.27(T),0.0038(T),.,3.367115,5.38,1.47,0.491000,0.008000,0.687000,0.243000,0.900000,0.883000,6.0904
synonymous_variant,OBP2B,SILENT,NM_001288987.1:p.Arg73Arg/c.217A>C,Agg/Cgg,LOW,,0.73722,0.6607,rs2073870,,,,,,chr9,136083580,136083580,T,G,hom,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg73Arg/c.217A>C|170|OBP2B|protein_coding|CODING|NM_001288987.1|3|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg73Arg/c.217A>C|170|OBP2B|protein_coding|CODING|NM_014581.3|3|1),non_coding_exon_variant(MODIFIER|||n.268A>C||OBP2B||CODING|NR_110242.1|3|1),non_coding_exon_variant(MODIFIER|||n.134A>C||OBP2B||CODING|NR_110243.1|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6237,0.8429,0.837,0.81,0.76,0.84,,,1.000(P),,,.,-0.279128,1.91,0.93,-1.114000,-0.059000,-0.862000,0.000000,0.000000,0.000000,6.1884
synonymous_variant,ABO,SILENT,NM_020469.2:p.Arg276Arg/c.828G>A,agG/agA,LOW,COSM455537(1),0.269369,0.2897,rs8176748,,,,,,chr9,136131289,136131289,C,T,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg276Arg/c.828G>A|353|ABO|protein_coding|CODING|NM_020469.2|7|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K36me3,HepG2:H3K27me3",,,,0.2198,0.4308,0.2207,0.23,0.23,0.24,,,,,,,,,,,,,,,,
missense_variant,ABO,MISSENSE,NM_020469.2:p.Pro257Leu/c.770C>T,cCa/cTa,MODERATE,,0.269569,0.2897,rs8176745,,,,,,chr9,136131347,136131347,G,A,hom,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro257Leu/c.770C>T|353|ABO|protein_coding|CODING|NM_020469.2|7|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:PolII,K562:H3K36me3",,,,0.2198,0.4308,0.2207,0.23,0.22,0.24,,,,,,,,,,,,,,,,
missense_variant,ABO,MISSENSE,NM_020469.2:p.Arg227His/c.680G>A,cGc/cAc,MODERATE,,0.239217,0.2887,rs8176742,,,,,,chr9,136131437,136131437,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg227His/c.680G>A|353|ABO|protein_coding|CODING|NM_020469.2|7|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:PolII,K562:H3K36me3",,,,0.2188,0.4207,0.2197,0.19,0.12,0.22,,,,,,,,,,,,,,,,
missense_variant,ABO,MISSENSE,NM_020469.2:p.Ser215Arg/c.645T>A,agT/agA,MODERATE,,0.26897,0.2887,rs8176740,,,,,,chr9,136131472,136131472,A,T,hom,missense_variant(MODERATE|MISSENSE|agT/agA|p.Ser215Arg/c.645T>A|353|ABO|protein_coding|CODING|NM_020469.2|7|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:PolII,K562:H3K36me3",,,,0.2198,0.4308,0.2207,0.23,0.22,0.23,,,,,,,,,,,,,,,,
missense_variant,ABO,MISSENSE,NM_020469.2:p.His99Arg/c.296A>G,cAt/cGt,MODERATE,COSM150738(1),0.453275,0.4831,rs386430791,,,,,,chr9,136132873,136132873,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His99Arg/c.296A>G|353|ABO|protein_coding|CODING|NM_020469.2|6|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3",,,,0.4642,0.4942,0.337,0.37,0.44,0.34,,,,,,,,,,,,,,,,
missense_variant,SURF6,MISSENSE,NM_006753.5:p.Thr175Met/c.524C>T,aCg/aTg,MODERATE,COSM1569382(4),0.28095,0.2986,rs886089,0.1(T),0.125(B),0(N),-1.0120(T),,chr9,136199466,136199466,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg175Trp/c.523C>T|197|SURF6|protein_coding|CODING|NM_001278942.1|4|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr175Met/c.524C>T|361|SURF6|protein_coding|CODING|NM_006753.5|4|1),non_coding_exon_variant(MODIFIER|||n.549C>T||SURF6||CODING|NR_103874.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4632,0.3501,0.3569,0.26,0.08,0.35,,0.145022(N),1.000(P),2.5(T),0.0000(T),0.048,0.875047,4.14,-8.28,-1.250000,-3.813000,-1.892000,0.002000,0.000000,0.000000,1.6707
missense_variant,SURF6,MISSENSE,NM_006753.5:p.Arg163Trp/c.487C>T,Cgg/Tgg,MODERATE,COSM3763719(3),0.282947,0.3075,rs886090,0.02(D),0.91(D),1.78(L),-0.9463(T),,chr9,136199503,136199503,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg163Trp/c.487C>T|361|SURF6|protein_coding|CODING|NM_006753.5|4|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys162Cys/c.486C>T|197|SURF6|protein_coding|CODING|NM_001278942.1|4|1),non_coding_exon_variant(MODIFIER|||n.512C>T||SURF6||CODING|NR_103874.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4642,0.3501,0.3569,0.26,0.08,0.35,,0.296982(N),0.999(P),2.4(T),0.0000(T),0.065,1.233467,4.42,1.02,0.467000,0.029000,0.524000,0.571000,0.112000,0.028000,6.6473
missense_variant,SURF2,MISSENSE,NM_017503.4:p.Ser213Gly/c.637A>G,Agc/Ggc,MODERATE,COSM4163483(1),0.675919,0.7024,rs12763,1(T),0.0(B),-1.1(N),-0.9615(T),,chr9,136227260,136227260,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser213Gly/c.637A>G|255|SURF2|protein_coding|CODING|NM_001278928.1|5|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser213Gly/c.637A>G|256|SURF2|protein_coding|CODING|NM_017503.4|5|1),downstream_gene_variant(MODIFIER||1065||254|SURF4|protein_coding|CODING|NM_001280788.1||1),downstream_gene_variant(MODIFIER||1065||159|SURF4|protein_coding|CODING|NM_001280789.1||1),downstream_gene_variant(MODIFIER||1065||226|SURF4|protein_coding|CODING|NM_001280790.1||1),downstream_gene_variant(MODIFIER||1065||226|SURF4|protein_coding|CODING|NM_001280791.1||1),downstream_gene_variant(MODIFIER||1065||128|SURF4|protein_coding|CODING|NM_001280792.1||1),downstream_gene_variant(MODIFIER||1065||152|SURF4|protein_coding|CODING|NM_001280793.1||1),downstream_gene_variant(MODIFIER||1065||269|SURF4|protein_coding|CODING|NM_033161.3||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.634,0.6034,0.68,0.79,0.62,,0.537378(N),1.000(P),1.61(T),0.0000(T),0.015,-2.069712,0.96,0.96,-0.971000,-0.980000,0.225000,0.011000,0.003000,0.000000,4.8358
missense_variant,STKLD1,MISSENSE,NM_153710.4:p.Lys473Glu/c.1417A>G,Aaa/Gaa,MODERATE,COSM4163485(1),0.470048,0.2837,rs3124747,1(T),0.0(B),-1.1(N),-0.9707(T),,chr9,136268084,136268084,A,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys473Glu/c.1417A>G|680|STKLD1|protein_coding|CODING|NM_153710.4|14|1),intron_variant(MODIFIER|||n.2109-740A>G||STKLD1||CODING|NR_103997.1|10|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.5648,0.6889,0.57,0.41,0.65,,0.353447(N),1.000(P),0.88(T),0.0000(T),0.012,-0.905737,4.18,-4.6,-1.608000,-0.960000,-1.236000,0.003000,0.000000,0.000000,6.4652
synonymous_variant,REXO4,SILENT,NM_020385.3:p.Thr283Thr/c.849T>C,acT/acC,LOW,COSM4163488(1),0.697883,0.749,rs2285486,,,,,,chr9,136277480,136277480,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr146Thr/c.438T>C|285|REXO4|protein_coding|CODING|NM_001279350.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr190Thr/c.570T>C|329|REXO4|protein_coding|CODING|NM_001279351.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr283Thr/c.849T>C|422|REXO4|protein_coding|CODING|NM_020385.3|4|1),upstream_gene_variant(MODIFIER||1979|||ADAMTS13||CODING|NR_024514.2||1),intron_variant(MODIFIER|||n.621+418T>C||REXO4||CODING|NR_103995.1|2|1),intron_variant(MODIFIER|||c.395-1287T>C|250|REXO4|protein_coding|CODING|NM_001279349.1|2|1),non_coding_exon_variant(MODIFIER|||n.754T>C||REXO4||CODING|NR_103996.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5481,0.6268,0.6074,0.70,0.83,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS13,SILENT,NM_139025.4:p.Ala140Ala/c.420C>T,gcC/gcT,LOW,COSM1460807(1),0.581869,0.8333,rs3118667,,,,,,chr9,136291063,136291063,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala140Ala/c.420C>T|1427|ADAMTS13|protein_coding|CODING|NM_139025.4|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala140Ala/c.420C>T|1340|ADAMTS13|protein_coding|CODING|NM_139026.4|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala140Ala/c.420C>T|1371|ADAMTS13|protein_coding|CODING|NM_139027.4|5|1),non_coding_exon_variant(MODIFIER|||n.621C>T||ADAMTS13||CODING|NR_024514.2|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.5562,0.5346,0.5119,0.52,0.48,0.53,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS13,SILENT,NM_139025.4:p.Gly215Gly/c.645C>G,ggC/ggG,LOW,,,,,,,,,,chr9,136291424,136291424,C,G,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly215Gly/c.645C>G|1427|ADAMTS13|protein_coding|CODING|NM_139025.4|6|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly215Gly/c.645C>G|1340|ADAMTS13|protein_coding|CODING|NM_139026.4|6|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly215Gly/c.645C>G|1371|ADAMTS13|protein_coding|CODING|NM_139027.4|6|1),non_coding_exon_variant(MODIFIER|||n.846C>G||ADAMTS13||CODING|NR_024514.2|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ADAMTS13,MISSENSE,NM_139025.4:p.Arg267Ser/c.799C>A,Cgc/Agc,MODERATE,,,,,0.01(D),"0.93,0.884,0.884(D,P,P)",2.36(M),0.5315(D),,chr9,136293866,136293866,C,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg267Ser/c.799C>A|1427|ADAMTS13|protein_coding|CODING|NM_139025.4|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg267Ser/c.799C>A|1340|ADAMTS13|protein_coding|CODING|NM_139026.4|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg267Ser/c.799C>A|1371|ADAMTS13|protein_coding|CODING|NM_139027.4|7|1),intron_variant(MODIFIER|||n.887+2401C>A||ADAMTS13||CODING|NR_024514.2|6|1)","K562:Max,H1ESC:USF1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:USF1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,K562:USF1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,1.000(D),"-2.22,-2.22,-2.22,-2.22(D,D,D,D)",0.7310(D),0.488,4.489257,3.99,3.06,0.441000,1.943000,2.414000,0.891000,0.976000,0.999000,10.0962
missense_variant,ADAMTS13,MISSENSE,NM_139025.4:p.Gln448Glu/c.1342C>G,Caa/Gaa,MODERATE,COSM3763721(1),0.271565,0.1835,rs2301612,1(T),"0.0,0.0,0.0(B,B,B)",-1.215(N),-0.9766(T),,chr9,136301982,136301982,C,G,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln448Glu/c.1342C>G|1427|ADAMTS13|protein_coding|CODING|NM_139025.4|12|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln417Glu/c.1249C>G|1340|ADAMTS13|protein_coding|CODING|NM_139026.4|12|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln448Glu/c.1342C>G|1371|ADAMTS13|protein_coding|CODING|NM_139027.4|12|1),intron_variant(MODIFIER|||n.993-2505C>G||ADAMTS13||CODING|NR_024514.2|7|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000006169.1,,0.4325,0.389,0.4254,0.30,0.10,0.41,,,0.000(P),"-0.21,-0.26,-0.23,3.91(T,T,T,T)",0.0000(T),0.122,-0.794038,5.17,4.25,-0.223000,0.678000,3.711000,0.317000,0.600000,1.000000,13.5897
synonymous_variant,ADAMTS13,SILENT,NM_139025.4:p.Thr572Thr/c.1716A>G,acA/acG,LOW,COSM4163494(1),0.515974,0.8115,rs3124768,,,,,,chr9,136304497,136304497,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr572Thr/c.1716A>G|1427|ADAMTS13|protein_coding|CODING|NM_139025.4|15|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr541Thr/c.1623A>G|1340|ADAMTS13|protein_coding|CODING|NM_139026.4|15|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr572Thr/c.1716A>G|1371|ADAMTS13|protein_coding|CODING|NM_139027.4|15|1),non_coding_exon_variant(MODIFIER|||n.1003A>G||ADAMTS13||CODING|NR_024514.2|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5337,0.4769,0.4215,0.42,0.36,0.44,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS13,SILENT,NM_139025.4:p.Thr1407Thr/c.4221C>A,acC/acA,LOW,,0.230631,0.1925,rs1055432,,,,,,chr9,136324239,136324239,C,A,hom,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr1407Thr/c.4221C>A|1427|ADAMTS13|protein_coding|CODING|NM_139025.4|29|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr1320Thr/c.3960C>A|1340|ADAMTS13|protein_coding|CODING|NM_139026.4|29|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr1351Thr/c.4053C>A|1371|ADAMTS13|protein_coding|CODING|NM_139027.4|29|1),upstream_gene_variant(MODIFIER||848||130|CACFD1|protein_coding|CODING|NM_001135775.2||1),upstream_gene_variant(MODIFIER||848||233|CACFD1|protein_coding|CODING|NM_001242369.1||1),upstream_gene_variant(MODIFIER||848||191|CACFD1|protein_coding|CODING|NM_001242370.1||1),upstream_gene_variant(MODIFIER||848||172|CACFD1|protein_coding|CODING|NM_017586.3||1),non_coding_exon_variant(MODIFIER|||n.2703C>A||ADAMTS13||CODING|NR_024514.2|18|1)","HepG2:H3K4me2,HeLa-S3:DNase1,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K4me3",,,,0.3732,0.3271,0.334,0.25,0.08,0.34,,,,,,,,,,,,,,,,
synonymous_variant,CACFD1,SILENT,NM_001242369.1:p.Ile58Ile/c.174T>C,atT/atC,LOW,,0.841054,0.9415,rs3124765,,,,,,chr9,136328657,136328657,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile58Ile/c.174T>C|130|CACFD1|protein_coding|CODING|NM_001135775.2|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile58Ile/c.174T>C|233|CACFD1|protein_coding|CODING|NM_001242369.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile58Ile/c.174T>C|191|CACFD1|protein_coding|CODING|NM_001242370.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile58Ile/c.174T>C|172|CACFD1|protein_coding|CODING|NM_017586.3|2|1)","H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,GM12878:CTCF,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:CTCF",,,,0.8926,0.8919,0.839,0.80,0.70,0.85,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A6,SILENT,NM_017585.3:p.Tyr393Tyr/c.1179C>T,taC/taT,LOW,COSM455549(2),0.118211,0.131,rs41297217,,,,,,chr9,136338580,136338580,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr393Tyr/c.1179C>T|507|SLC2A6|protein_coding|CODING|NM_017585.3|8|1),intron_variant(MODIFIER|||c.1037-208C>T|445|SLC2A6|protein_coding|CODING|NM_001145099.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1851,0.219,0.1113,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A6,SILENT,NM_017585.3:p.Leu387Leu/c.1161G>T,ctG/ctT,LOW,,0.0251597,0,rs41309954,,,,,,chr9,136338598,136338598,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu387Leu/c.1161G>T|507|SLC2A6|protein_coding|CODING|NM_017585.3|8|1),intron_variant(MODIFIER|||c.1037-226G>T|445|SLC2A6|protein_coding|CODING|NM_001145099.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0399,0.0231,0.0666,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A6,SILENT,NM_017585.3:p.Pro270Pro/c.810A>C,ccA/ccC,LOW,COSM3763724(3),0.727835,0.9385,rs2073935,,,,,,chr9,136340200,136340200,T,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro270Pro/c.810A>C|445|SLC2A6|protein_coding|CODING|NM_001145099.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro270Pro/c.810A>C|507|SLC2A6|protein_coding|CODING|NM_017585.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.8456,0.7767,0.6998,0.64,0.52,0.70,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL2,SILENT,NM_001145320.1:p.Asp258Asp/c.774C>T,gaC/gaT,LOW,,0.724042,0.5238,rs2073874,,,,,,chr9,136412170,136412170,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp258Asp/c.774C>T|951|ADAMTSL2|protein_coding|CODING|NM_001145320.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp258Asp/c.774C>T|951|ADAMTSL2|protein_coding|CODING|NM_014694.3|9|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7209,0.6859,0.9056,0.88,0.79,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL2,SILENT,NM_001145320.1:p.Ala280Ala/c.840A>T,gcA/gcT,LOW,,0.724641,0.5248,rs2073875,,,,,,chr9,136412236,136412236,A,T,het,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala280Ala/c.840A>T|951|ADAMTSL2|protein_coding|CODING|NM_001145320.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala280Ala/c.840A>T|951|ADAMTSL2|protein_coding|CODING|NM_014694.3|9|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7219,0.6859,0.9066,0.88,0.79,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL2,SILENT,NM_001145320.1:p.Arg287Arg/c.859A>C,Agg/Cgg,LOW,,0.724641,0.5248,rs2073876,,,,,,chr9,136412255,136412255,A,C,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg287Arg/c.859A>C|951|ADAMTSL2|protein_coding|CODING|NM_001145320.1|9|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg287Arg/c.859A>C|951|ADAMTSL2|protein_coding|CODING|NM_014694.3|9|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7219,0.6859,0.9066,0.88,0.79,0.92,,,,,,,,,,,,,,,,
missense_variant,DBH,MISSENSE,NM_000787.3:p.Ala211Thr/c.631G>A,Gcg/Acg,MODERATE,COSM4163504(1),0.101837,0.1121,rs5320,0.4(T),0.002(B),-0.935(N),-1.0004(T),,chr9,136507473,136507473,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala211Thr/c.631G>A|617|DBH|protein_coding|CODING|NM_000787.3|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0798,0.0447,0.0616,0.09,0.14,0.06,,0.875897(N),1.000(P),"1.38,1.38(T,T)",0.0001(T),0.276,-1.187984,4.67,-4.71,-0.573000,-0.677000,-0.137000,0.004000,0.001000,0.000000,5.3345
synonymous_variant,DBH,SILENT,NM_000787.3:p.Thr470Thr/c.1410A>G,acA/acG,LOW,COSM35319(3),0.621206,0.9038,rs386613196,,,,,,chr9,136518097,136518097,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr470Thr/c.1410A>G|617|DBH|protein_coding|CODING|NM_000787.3|9|1),downstream_gene_variant(MODIFIER||1612|||DBH-AS1||NON_CODING|NR_102735.1||1)","GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5225,0.5937,0.5199,0.53,0.57,0.50,,,,,,,,,,,,,,,,
synonymous_variant,SARDH,SILENT,NM_001134707.1:p.Ser595Ser/c.1785C>T,tcC/tcT,LOW,COSM455556(1),,,rs2502740,,,,,,chr9,136561367,136561367,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser595Ser/c.1785C>T|918|SARDH|protein_coding|CODING|NM_001134707.1|14|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser595Ser/c.1785C>T|918|SARDH|protein_coding|CODING|NM_007101.3|14|1)","IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,,,,0.28,0.15,0.34,,,,,,,,,,,,,,,,
synonymous_variant,SARDH,SILENT,NM_001134707.1:p.His489His/c.1467C>T,caC/caT,LOW,COSM455557(2),0.423922,0.4891,rs2073815,,,,,,chr9,136573412,136573412,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His489His/c.1467C>T|918|SARDH|protein_coding|CODING|NM_001134707.1|11|1),synonymous_variant(LOW|SILENT|caC/caT|p.His489His/c.1467C>T|918|SARDH|protein_coding|CODING|NM_007101.3|11|1)","GM06990:H3K27me3,CD4:H4K91ac,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.4591,0.464,0.5577,0.47,0.27,0.58,,,,,,,,,,,,,,,,
synonymous_variant,SARDH,SILENT,NM_001134707.1:p.Gln50Gln/c.150G>A,caG/caA,LOW,,0.219649,0.3056,rs573904,,,,,,chr9,136599146,136599146,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln50Gln/c.150G>A|918|SARDH|protein_coding|CODING|NM_001134707.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln50Gln/c.150G>A|918|SARDH|protein_coding|CODING|NM_007101.3|2|1)",NHEK:H3K27me3,,,,0.2219,0.2406,0.2952,0.24,0.13,0.29,,,,,,,,,,,,,,,,
missense_variant,VAV2,MISSENSE,NM_001134398.1:p.Met594Val/c.1780A>G,Atg/Gtg,MODERATE,COSM150742(3),0.495208,0.0645,rs602990,0.78(T),"0.0,0.0,0.0(B,B,B)",-0.55(N),-1.0315(T),,chr9,136643994,136643994,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met594Val/c.1780A>G|878|VAV2|protein_coding|CODING|NM_001134398.1|22|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met584Val/c.1750A>G|839|VAV2|protein_coding|CODING|NM_003371.3|20|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4591,0.4798,0.5189,0.62,0.80,0.53,,0.005314(N),1.000(P),"3.35,3.35,3.35(T,T,T)",0.0000(T),0.02,-0.757601,4.8,1.91,-2.599000,0.116000,0.920000,0.741000,0.298000,0.339000,13.6487
synonymous_variant,BRD3,SILENT,NM_007371.3:p.Pro428Pro/c.1284C>T,ccC/ccT,LOW,COSM3763734(1),0.335463,0.6667,rs467387,,,,,,chr9,136907005,136907005,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro428Pro/c.1284C>T|726|BRD3|protein_coding|CODING|NM_007371.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4806,0.2594,0.2903,0.21,0.09,0.28,,,,,,,,,,,,,,,,
synonymous_variant,BRD3,SILENT,NM_007371.3:p.Leu312Leu/c.936A>G,ctA/ctG,LOW,COSM4163508(1),0.72504,0.6845,rs464826,,,,,,chr9,136913355,136913355,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu312Leu/c.936A>G|726|BRD3|protein_coding|CODING|NM_007371.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7526,0.5418,0.6759,0.71,0.82,0.65,,,,,,,,,,,,,,,,
synonymous_variant,COL5A1,SILENT,NM_000093.4:p.Thr246Thr/c.738C>T,acC/acT,LOW,COSM3763736(2),0.342652,0.4077,rs3124299,,,,,,chr9,137619195,137619195,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr246Thr/c.738C>T|1838|COL5A1|protein_coding|CODING|NM_000093.4|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr246Thr/c.738C>T|1838|COL5A1|protein_coding|CODING|NM_001278074.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.407,0.5519,0.4652,0.33,0.10,0.45,,,,,,,,,,,,,,,,
missense_variant,COL5A1,MISSENSE,NM_000093.4:p.Gly530Ser/c.1588G>A,Ggc/Agc,MODERATE,COSM1559848(1),0.0235623,0.001,rs61735045,0.14(T),0.998(D),0.425(N),-0.1293(T),,chr9,137642654,137642654,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly530Ser/c.1588G>A|1838|COL5A1|protein_coding|CODING|NM_000093.4|13|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly530Ser/c.1588G>A|1838|COL5A1|protein_coding|CODING|NM_001278074.1|13|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,RCV000032106.1|RCV000124421.1,,0.0419,0.0403,0.0467,0.03,0.01,0.04,,0.000003(U),1.000(A),-2.51(D),0.2082(T),0.235,2.550175,4.54,4.54,0.563000,2.223000,5.396000,0.288000,0.042000,1.000000,16.4173
synonymous_variant,COL5A1,SILENT,NM_000093.4:p.Pro908Pro/c.2724G>A,ccG/ccA,LOW,,0.0125799,0.001,rs41310207,,,,,,chr9,137686951,137686951,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro908Pro/c.2724G>A|1838|COL5A1|protein_coding|CODING|NM_000093.4|33|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro908Pro/c.2724G>A|1838|COL5A1|protein_coding|CODING|NM_001278074.1|33|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0187,0.0408,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,COL5A1,SILENT,NM_000093.4:p.Pro1494Pro/c.4482G>A,ccG/ccA,LOW,,0.019369,0,rs2228560,,,,,,chr9,137711997,137711997,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1494Pro/c.4482G>A|1838|COL5A1|protein_coding|CODING|NM_000093.4|58|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1494Pro/c.4482G>A|1838|COL5A1|protein_coding|CODING|NM_001278074.1|58|1),non_coding_exon_variant(MODIFIER|||n.129C>T||LOC101448202||NON_CODING|NR_103451.2|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0143,0.0375,0.0557,,,,,,,,,,,,,,,,,,,
synonymous_variant,FCN2,SILENT,NM_004108.2:p.Arg74Arg/c.222T>C,cgT/cgC,LOW,COSM4163517(1),0.375399,0.4097,rs4520243,,,,,,chr9,137775155,137775155,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg74Arg/c.222T>C|313|FCN2|protein_coding|CODING|NM_004108.2|3|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg36Arg/c.108T>C|275|FCN2|protein_coding|CODING|NM_015837.2|2|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4693,0.2997,0.3718,0.35,0.34,0.35,,,,,,,,,,,,,,,,
missense_variant,FCN2,MISSENSE,NM_004108.2:p.Thr236Met/c.707C>T,aCg/aTg,MODERATE,COSM3736478(3),0.248802,0.0665,rs17549193,0.11(T),"0.121,0.1(B,B)",2.315(M),-1.0602(T),,chr9,137779026,137779026,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr236Met/c.707C>T|313|FCN2|protein_coding|CODING|NM_004108.2|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr198Met/c.593C>T|275|FCN2|protein_coding|CODING|NM_015837.2|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2526,0.2493,0.2753,0.31,0.34,0.29,,0.299635(N),0.984(P),"-1.25,-1.25(T,T)",0.0000(T),0.156,1.030738,4.05,2.06,0.563000,0.628000,0.771000,0.042000,0.023000,0.011000,6.6263
synonymous_variant,FCN1,SILENT,NM_002003.3:p.Gln275Gln/c.825A>G,caA/caG,LOW,COSM3763738(1),0.683706,0.4712,rs1071583,,,,,,chr9,137801800,137801800,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln275Gln/c.825A>G|326|FCN1|protein_coding|CODING|NM_002003.3|9|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7403,0.4784,0.6302,0.73,0.91,0.64,,,,,,,,,,,,,,,,
synonymous_variant,FCN1,SILENT,NM_002003.3:p.Asn190Asn/c.570T>C,aaT/aaC,LOW,,0.667332,0.4673,rs2274845,,,,,,chr9,137804360,137804360,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn190Asn/c.570T>C|326|FCN1|protein_coding|CODING|NM_002003.3|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7362,0.4654,0.6213,0.71,0.87,0.62,,,,,,,,,,,,,,,,
synonymous_variant,OLFM1,SILENT,NM_001282612.1:p.Ala4Ala/c.12C>G,gcC/gcG,LOW,,0.0609026,0,rs111481598,,,,,,chr9,137979231,137979231,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala4Ala/c.12C>G|458|OLFM1|protein_coding|CODING|NM_001282612.1|1|1),upstream_gene_variant(MODIFIER||283||485|OLFM1|protein_coding|CODING|NM_001282611.1||1),intron_variant(MODIFIER|||c.97-2810C>G|135|OLFM1|protein_coding|CODING|NM_006334.3|1|1),intron_variant(MODIFIER|||c.97-2810C>G|467|OLFM1|protein_coding|CODING|NM_014279.4|1|1)","NHEK:CTCF,HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,NH-A:H3K27me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:DNase1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0.0061,0.0303,0.0487,,,,,,,,,,,,,,,,,,,
synonymous_variant,OLFM1,SILENT,NM_001282611.1:p.Ala79Ala/c.237T>C,gcT/gcC,LOW,,0.782348,0.6806,rs500461,,,,,,chr9,137982127,137982127,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala79Ala/c.237T>C|485|OLFM1|protein_coding|CODING|NM_001282611.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala52Ala/c.156T>C|458|OLFM1|protein_coding|CODING|NM_001282612.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala61Ala/c.183T>C|135|OLFM1|protein_coding|CODING|NM_006334.3|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala61Ala/c.183T>C|467|OLFM1|protein_coding|CODING|NM_014279.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7597,0.6268,0.8797,0.89,0.88,0.90,,,,,,,,,,,,,,,,
missense_variant,C9orf62,MISSENSE,NM_173520.2:p.Trp140Gly/c.418T>G,Tgg/Ggg,MODERATE,COSM4163520(1),0.733027,0.7817,rs914397,0(D),0.0(B),,-1.0262(T),,chr9,138236212,138236212,T,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp140Gly/c.418T>G|152|C9orf62|protein_coding|CODING|NM_173520.2|2|1),"NHEK:CTCF,HeLa-S3:DNase1,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1",,,,0.7556,0.8329,0.7942,,,,,,1.000(P),,0.0000(T),0.22,-0.743429,1.81,-0.194,-0.217000,-0.415000,-2.543000,0.002000,0.000000,0.000000,2.8909
missense_variant,PPP1R26,MISSENSE,NM_014811.3:p.Val98Ala/c.293T>C,gTc/gCc,MODERATE,COSM455572(2),0.418331,0.6528,rs3748192,1(T),0.0(B),-1.7(N),-0.9283(T),,chr9,138376649,138376649,T,C,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val98Ala/c.293T>C|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5112,0.4899,0.2117,0.22,0.25,0.21,,0.711490(N),1.000(P),"0.88,0.88(T,T)",0.0000(T),0.262,-2.011636,4.39,3.41,-0.119000,1.085000,1.185000,0.067000,0.106000,0.006000,7.3836
missense_variant,PPP1R26,MISSENSE,NM_014811.3:p.Lys206Glu/c.616A>G,Aag/Gag,MODERATE,,0.411142,0.6319,rs3928777,1(T),0.0(B),-0.895(N),-0.9675(T),,chr9,138376972,138376972,A,G,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys206Glu/c.616A>G|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4939,0.4899,0.2107,0.22,0.25,0.21,,0.120907(N),1.000(P),3.1(T),0.0000(T),0.029,-0.589194,5.4,-4.97,-2.245000,-2.103000,-0.040000,0.001000,0.000000,0.000000,4.3603
missense_variant,PPP1R26,MISSENSE,NM_014811.3:p.Met434Thr/c.1301T>C,aTg/aCg,MODERATE,COSM3763739(1),0.464058,0.6825,rs1808998,1(T),0.0(B),-1.24(N),-0.9590(T),,chr9,138377657,138377657,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met434Thr/c.1301T>C|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5153,0.5231,0.2147,0.27,0.37,0.21,,0.499637(N),1.000(P),3.13(T),0.0000(T),0.002,-1.520221,5.06,-1.98,-1.859000,-1.293000,-0.935000,0.000000,0.000000,0.000000,1.8933
synonymous_variant,PPP1R26,SILENT,NM_014811.3:p.Val499Val/c.1497A>G,gtA/gtG,LOW,COSM1460966(2),0.427516,0.6577,rs2004074,,,,,,chr9,138377853,138377853,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val499Val/c.1497A>G|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.499,0.4971,0.2107,0.24,0.29,0.21,,,,,,,,,,,,,,,,
missense_variant,PPP1R26,MISSENSE,NM_014811.3:p.Arg520His/c.1559G>A,cGc/cAc,MODERATE,COSM1636084(2),0.139577,0.4623,rs3748195,0.27(T),0.004(B),1.23(L),-0.9180(T),,chr9,138377915,138377915,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg520His/c.1559G>A|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1012,0.183,0.006,0.01,0.01,0.01,,0.290851(N),1.000(P),2.09(T),0.0000(T),0.077,0.389128,5.55,-1.37,0.561000,-0.158000,0.395000,0.006000,0.001000,0.000000,7.0084
missense_variant,PPP1R26,MISSENSE,NM_014811.3:p.Asn834Asp/c.2500A>G,Aac/Gac,MODERATE,COSM4163521(1),0.894169,0.7837,rs2078266,1(T),0.0(B),-1.895(N),-0.9828(T),,chr9,138378856,138378856,A,G,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn834Asp/c.2500A>G|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8967,0.938,0.8419,0.87,0.97,0.82,,0.000020(N),1.000(P),3.84(T),0.0000(T),0.035,-0.436438,4.77,4.77,-0.355000,1.023000,6.085000,0.060000,0.395000,1.000000,12.2653
synonymous_variant,PPP1R26,SILENT,NM_014811.3:p.Pro882Pro/c.2646T>G,ccT/ccG,LOW,,0.997804,1,rs1975518,,,,,,chr9,138379002,138379002,T,G,hom,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro882Pro/c.2646T>G|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.998,1,0.992,0.99,1.00,0.98,,,,,,,,,,,,,,,,
synonymous_variant,PPP1R26,SILENT,NM_014811.3:p.Leu901Leu/c.2703G>T,ctG/ctT,LOW,COSM3982768(1),0.18131,0.4464,rs3748198,,,,,,chr9,138379059,138379059,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu901Leu/c.2703G>T|1209|PPP1R26|protein_coding|CODING|NM_014811.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1483,0.2075,0.0328,0.05,0.08,0.03,,,,,,,,,,,,,,,,
missense_variant,OBP2A,MISSENSE,NM_001293189.1:p.Pro142Arg/c.425C>G,cCt/cGt,MODERATE,COSM4163522(1),0.486621,0.6974,rs2590500,0.52(T),0.937(D),,-0.9594(T),,chr9,138440525,138440525,C,G,hom,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro142Arg/c.425C>G|228|OBP2A|protein_coding|CODING|NM_001293189.1|5|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr97Thr/c.291C>G|147|OBP2A|protein_coding|CODING|NM_001293193.1|4|1),intron_variant(MODIFIER|||c.389-29C>G|170|OBP2A|protein_coding|CODING|NM_014582.2|4|1),non_coding_exon_variant(MODIFIER|||n.451C>G||OBP2A||CODING|NR_120603.1|5|1)","K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5746,0.5778,0.4274,0.31,0.21,0.36,,,1.000(P),1.63(T),0.0000(T),0.15,2.063603,1.77,0.816,0.425000,0.295000,0.186000,0.364000,0.002000,0.000000,5.4203
missense_variant,OBP2A,MISSENSE,NM_001293189.1:p.Trp143Arg/c.427T>C,Tgg/Cgg,MODERATE,COSM4163523(1),0.486621,0.6974,rs2590501,0.17(T),0.0(B),,-0.9515(T),,chr9,138440527,138440527,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp143Arg/c.427T>C|228|OBP2A|protein_coding|CODING|NM_001293189.1|5|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu98Ser/c.293T>C|147|OBP2A|protein_coding|CODING|NM_001293193.1|4|1),intron_variant(MODIFIER|||c.389-27T>C|170|OBP2A|protein_coding|CODING|NM_014582.2|4|1),non_coding_exon_variant(MODIFIER|||n.453T>C||OBP2A||CODING|NR_120603.1|5|1)","K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5746,0.5778,0.4274,0.31,0.21,0.35,,,1.000(P),1.79(T),0.0000(T),.,-2.751831,1.27,-2.55,-3.752000,-0.799000,-2.631000,0.340000,0.000000,0.000000,0.5218
missense_variant,OBP2A,MISSENSE,NM_001293189.1:p.Cys181Arg/c.541T>C,Tgc/Cgc,MODERATE,,0.842652,0.9901,rs2853652,1(T),0.0(B),-0.2(N),-1.0584(T),,chr9,138440641,138440641,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys181Arg/c.541T>C|228|OBP2A|protein_coding|CODING|NM_001293189.1|5|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met136Thr/c.407T>C|147|OBP2A|protein_coding|CODING|NM_001293193.1|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met159Thr/c.476T>C|170|OBP2A|protein_coding|CODING|NM_014582.2|5|1),non_coding_exon_variant(MODIFIER|||n.567T>C||OBP2A||CODING|NR_120603.1|5|1)","K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8108,0.8631,0.7445,0.77,0.82,0.74,,0.260443(N),1.000(P),1.44(T),0.0000(T),.,-2.191828,2.39,-4.77,-1.774000,-1.501000,-1.869000,0.001000,0.000000,0.000000,4.1979
synonymous_variant,GLT6D1,SILENT,NM_182974.2:p.Pro54Pro/c.162T>C,ccT/ccC,LOW,COSM4163524(1),0.971645,0.9921,rs1333240,,,,,,chr9,138518010,138518010,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro54Pro/c.162T>C|276|GLT6D1|protein_coding|CODING|NM_182974.2|4|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,0.999,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SOHLH1,SILENT,NM_001012415.2:p.Pro327Pro/c.981C>T,ccC/ccT,LOW,,0.85623,0.9712,rs572335,,,,,,chr9,138586198,138586198,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro327Pro/c.981C>T|328|SOHLH1|protein_coding|CODING|NM_001012415.2|7|1),intron_variant(MODIFIER|||c.946+35C>T|387|SOHLH1|protein_coding|CODING|NM_001101677.1|7|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9397,0.9135,0.9324,0.83,0.67,0.92,,,,,,,,,,,,,,,,
missense_variant,SOHLH1,MISSENSE,NM_001101677.1:p.Pro269Ser/c.805C>T,Ccc/Tcc,MODERATE,COSM3763746(2),0.879992,0.9712,rs3119932,0.7(T),"0.01,0.006(B,B)",-0.46(N),-1.0300(T),,chr9,138586966,138586966,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro269Ser/c.805C>T|328|SOHLH1|protein_coding|CODING|NM_001012415.2|6|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro269Ser/c.805C>T|387|SOHLH1|protein_coding|CODING|NM_001101677.1|6|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9397,0.9251,0.9334,0.87,0.77,0.92,,,1.000(P),"1.53,1.45(T,T)",0.0000(T),0.065,-0.007966,2.83,-1.84,-1.036000,-0.625000,-0.114000,0.003000,0.001000,0.003000,6.5984
synonymous_variant,SOHLH1,SILENT,NM_001101677.1:p.Gly268Gly/c.804G>T,ggG/ggT,LOW,COSM3763748(2),0.879792,0.9712,rs3119933,,,,,,chr9,138586967,138586967,C,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly268Gly/c.804G>T|328|SOHLH1|protein_coding|CODING|NM_001012415.2|6|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly268Gly/c.804G>T|387|SOHLH1|protein_coding|CODING|NM_001101677.1|6|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9397,0.9236,0.9334,0.87,0.77,0.92,,,,,,,,,,,,,,,,
missense_variant,SOHLH1,MISSENSE,NM_001101677.1:p.Arg37Gln/c.110G>A,cGg/cAg,MODERATE,COSM3763749(1),0.808107,0.6627,rs471525,1(T),"0.0,0.0(B,B)",-0.145(N),-0.9640(T),,chr9,138590928,138590928,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg37Gln/c.110G>A|328|SOHLH1|protein_coding|CODING|NM_001012415.2|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg37Gln/c.110G>A|387|SOHLH1|protein_coding|CODING|NM_001101677.1|2|1)","HeLa-S3:DNase1,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,0.8855,0.8271,0.9155,0.88,0.82,0.91,,,1.000(P),"1.39,1.42(T,T)",0.0000(T),0.058,-0.375235,3.24,-5.41,-1.718000,-1.342000,-1.197000,0.009000,0.000000,0.000000,2.3894
synonymous_variant,SOHLH1,SILENT,NM_001101677.1:p.Pro16Pro/c.48T>C,ccT/ccC,LOW,COSM4163527(1),0.813898,0.6667,rs559326,,,,,,chr9,138591266,138591266,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro16Pro/c.48T>C|328|SOHLH1|protein_coding|CODING|NM_001012415.2|1|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro16Pro/c.48T>C|387|SOHLH1|protein_coding|CODING|NM_001101677.1|1|1)","H1ESC:DNase1,K562:USF1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8998,0.8314,0.9215,0.88,0.80,0.92,,,,,,,,,,,,,,,,
synonymous_variant,KCNT1,SILENT,NM_020822.2:p.Thr809Thr/c.2427G>A,acG/acA,LOW,,0.652157,0.5744,rs914428,,,,,,chr9,138669261,138669261,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr764Thr/c.2292G>A|1211|KCNT1|protein_coding|CODING|NM_001272003.1|20|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr809Thr/c.2427G>A|1235|KCNT1|protein_coding|CODING|NM_020822.2|21|1)","HUVEC:DNase1,HepG2:H3K27me3",,RCV000117363.2,,0.8211,0.6916,0.6779,0.63,0.57,0.67,,,,,,,,,,,,,,,,
synonymous_variant,UBAC1,SILENT,NM_016172.2:p.Ala173Ala/c.519A>G,gcA/gcG,LOW,,0.982029,1,rs7028495,,,,,,chr9,138838140,138838140,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala173Ala/c.519A>G|405|UBAC1|protein_coding|CODING|NM_016172.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NACC2,SILENT,NM_144653.4:p.Pro485Pro/c.1455T>C,ccT/ccC,LOW,COSM3750162(6),0.686901,0.5694,rs9626,,,,,,chr9,138903671,138903671,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro485Pro/c.1455T>C|587|NACC2|protein_coding|CODING|NM_144653.4|6|1),"GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HUVEC:H3K4me1,HepG2:TAF1,HepG2:DNase1,HepG2:Cmyc",,,,0.6554,0.6902,0.6968,0.74,0.77,0.72,,,,,,,,,,,,,,,,
synonymous_variant,NACC2,SILENT,NM_144653.4:p.Thr388Thr/c.1164G>A,acG/acA,LOW,COSM3763759(1),0.464257,0.4494,rs2280486,,,,,,chr9,138905136,138905136,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr388Thr/c.1164G>A|587|NACC2|protein_coding|CODING|NM_144653.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3978,0.4741,0.4284,0.45,0.51,0.42,,,,,,,,,,,,,,,,
synonymous_variant,LHX3,SILENT,NM_014564.3:p.Ala27Ala/c.81G>A,gcG/gcA,LOW,COSM4163532(2),0.161342,0.1042,rs2274116,,,,,,chr9,139094805,139094805,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala27Ala/c.81G>A|402|LHX3|protein_coding|CODING|NM_014564.3|1|1),intron_variant(MODIFIER|||c.79+1975G>A|397|LHX3|protein_coding|CODING|NM_178138.4|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.228,0.2133,0.3121,0.16,0.05,0.21,,,,,,,,,,,,,,,,
synonymous_variant,QSOX2,SILENT,NM_181701.3:p.Pro622Pro/c.1866A>G,ccA/ccG,LOW,,0.160343,0.12,rs9696116,,,,,,chr9,139100805,139100805,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro622Pro/c.1866A>G|698|QSOX2|protein_coding|CODING|NM_181701.3|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2127,0.2147,0.2932,0.23,0.08,0.30,,,,,,,,,,,,,,,,
synonymous_variant,QSOX2,SILENT,NM_181701.3:p.Val8Val/c.24G>A,gtG/gtA,LOW,COSM4163533(2),0.541134,0.6905,rs79849109,,,,,,chr9,139137626,139137626,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val8Val/c.24G>A|698|QSOX2|protein_coding|CODING|NM_181701.3|1|1),"HeLa-S3:Cmyc,K562:Max,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,H1ESC:TAF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:Nrsf,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HepG2:USF1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,HSMM:DNase1,NH-A:DNase1,HeLa-S3:Tr4,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:TAF1,HeLa-S3:Ap2alpha,GM12878:PolII,K562:Egr1,K562:Yy1,HeLa-S3:Nrsf,HeLa-S3:Ap2gamma,CD4:PolII,H1ESC:Nrsf,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,K562:Nrsf,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.6616,0.5259,0.659,,,,,,,,,,,,,,,,,,,
missense_variant,GPSM1,MISSENSE,NM_001145638.2:p.Val8Ala/c.23T>C,gTg/gCg,MODERATE,COSM4163535(1),,,rs28495820,1(T),"0.0,0.0(B,B)",0.09(N),-0.5850(T),,chr9,139222174,139222174,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val8Ala/c.23T>C|675|GPSM1|protein_coding|CODING|NM_001145638.2|1|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val8Ala/c.23T>C|457|GPSM1|protein_coding|CODING|NM_015597.5|1|1),upstream_gene_variant(MODIFIER||395|||DKFZP434A062||NON_CODING|NR_026964.3||1)","K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,,,,,,,,,0.000(P),"-2.89,-2.69(D,D)",0.4140(T),0.109,-0.768629,1.91,0.94,-0.337000,-0.048000,-0.522000,0.325000,0.975000,0.000000,5.2354
synonymous_variant,GPSM1,SILENT,NM_001145638.2:p.Pro617Pro/c.1851G>A,ccG/ccA,LOW,COSM3721974(3),0.750799,0.9454,rs3812547,,,,,,chr9,139252495,139252495,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro617Pro/c.1851G>A|675|GPSM1|protein_coding|CODING|NM_001145638.2|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro108Pro/c.324G>A|166|GPSM1|protein_coding|CODING|NM_001145639.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro108Pro/c.324G>A|166|GPSM1|protein_coding|CODING|NM_001200003.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7342,0.5317,0.673,0.70,0.77,0.67,,,,,,,,,,,,,,,,
synonymous_variant,SNAPC4,SILENT,NM_003086.2:p.Ser1439Ser/c.4317C>T,tcC/tcT,LOW,,0.0341454,0.002,rs61745672,,,,,,chr9,139270901,139270901,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1439Ser/c.4317C>T|1469|SNAPC4|protein_coding|CODING|NM_003086.2|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0184,0.0461,0.1064,0.07,0.03,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SNAPC4,SILENT,NM_003086.2:p.Ala959Ala/c.2877G>A,gcG/gcA,LOW,COSM4163542(1),0.780751,0.8452,rs3812567,,,,,,chr9,139273402,139273402,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala959Ala/c.2877G>A|1469|SNAPC4|protein_coding|CODING|NM_003086.2|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.6455,0.6909,0.77,0.94,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SNAPC4,SILENT,NM_003086.2:p.His721His/c.2163C>T,caC/caT,LOW,,0.105232,0.002,rs34850728,,,,,,chr9,139276430,139276430,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His721His/c.2163C>T|1469|SNAPC4|protein_coding|CODING|NM_003086.2|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2658,0.1081,0.1799,0.14,0.04,0.20,,,,,,,,,,,,,,,,
synonymous_variant,INPP5E,SILENT,NM_019892.4:p.Pro597Pro/c.1791G>C,ccG/ccC,LOW,,0.000998403,0,,,,,,,chr9,139324740,139324740,C,G,het,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro597Pro/c.1791G>C|644|INPP5E|protein_coding|CODING|NM_019892.4|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.002,,,,,,,,,,,,,,,,,,,
missense_variant,INPP5E,MISSENSE,NM_019892.4:p.Gly341Ser/c.1021G>A,Ggc/Agc,MODERATE,,,,,0.88(T),"0.929,0.715(D,P)",0.49(N),-0.4333(T),,chr9,139328502,139328502,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly341Ser/c.1021G>A|644|INPP5E|protein_coding|CODING|NM_019892.4|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),-1.34(T),0.4175(T),0.706,3.593799,4.13,4.13,0.511000,2.018000,4.153000,0.695000,1.000000,1.000000,15.7583
synonymous_variant,SEC16A,SILENT,NM_014866.1:p.His617His/c.1851C>T,caC/caT,LOW,COSM1319634(1),0.0271565,0,rs76562693,,,,,,chr9,139370217,139370217,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His617His/c.1851C>T|2334|SEC16A|protein_coding|CODING|NM_001276418.1|2|1),synonymous_variant(LOW|SILENT|caC/caT|p.His617His/c.1851C>T|2357|SEC16A|protein_coding|CODING|NM_014866.1|3|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0317,0.0447,0.0696,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,NOTCH1,SILENT,NM_017617.3:p.Asp2185Asp/c.6555C>T,gaC/gaT,LOW,COSM3763781(1),0.695088,0.9494,rs2229974,,,,,,chr9,139391636,139391636,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2185Asp/c.6555C>T|2555|NOTCH1|protein_coding|CODING|NM_017617.3|34|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,K562:Nrsf,GM06990:H3K36me3",,,,0.6738,0.6542,0.5775,0.58,0.64,0.55,,,,,,,,,,,,,,,,
synonymous_variant,NOTCH1,SILENT,NM_017617.3:p.Asp1698Asp/c.5094C>T,gaC/gaT,LOW,COSM33747(17),0.553514,0.9018,rs10521,,,,,,chr9,139397707,139397707,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1698Asp/c.5094C>T|2555|NOTCH1|protein_coding|CODING|NM_017617.3|27|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.3753,0.5115,0.4046,0.41,0.52,0.35,,,,,,,,,,,,,,,,
synonymous_variant,NOTCH1,SILENT,NM_017617.3:p.Asn755Asn/c.2265T>C,aaT/aaC,LOW,COSM3763787(1),0.527756,0.7768,rs2229971,,,,,,chr9,139407932,139407932,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn755Asn/c.2265T>C|2555|NOTCH1|protein_coding|CODING|NM_017617.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.272,0.4784,0.335,0.40,0.62,0.29,,,,,,,,,,,,,,,,
synonymous_variant,NOTCH1,SILENT,NM_017617.3:p.Asn104Asn/c.312T>C,aaT/aaC,LOW,COSM1756049(2),0.740016,0.8363,rs4489420,,,,,,chr9,139418260,139418260,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn104Asn/c.312T>C|2555|NOTCH1|protein_coding|CODING|NM_017617.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6922,0.6037,0.505,0.61,0.88,0.47,,,,,,,,,,,,,,,,
missense_variant,EGFL7,MISSENSE,NM_016215.4:p.Val153Ile/c.457G>A,Gtc/Atc,MODERATE,COSM3763789(1),0.168331,0.1349,rs2297538,0.32(T),0.008(B),-0.09(N),-0.9566(T),,chr9,139564668,139564668,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val153Ile/c.457G>A|273|EGFL7|protein_coding|CODING|NM_016215.4|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val153Ile/c.457G>A|273|EGFL7|protein_coding|CODING|NM_201446.2|6|1),upstream_gene_variant(MODIFIER||386|||MIR126||NON_CODING|NR_029695.1||1),non_coding_exon_variant(MODIFIER|||n.772G>A||EGFL7||CODING|NR_045110.1|7|1),non_coding_exon_variant(MODIFIER|||n.775G>A||EGFL7||CODING|NR_045111.1|7|1),non_coding_exon_variant(MODIFIER|||n.1368G>A||EGFL7||CODING|NR_046367.1|7|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.09,0.1945,0.2087,0.21,0.22,0.20,,0.049234(N),0.019(P),"1.5,1.5,1.5,1.5(T,T,T,T)",0.0000(T),0.104,0.509711,5.05,0.508,-0.254000,0.173000,-0.001000,0.266000,0.857000,0.020000,9.6192
missense_variant,FAM69B,MISSENSE,NM_152421.3:p.Ser158Gly/c.472A>G,Agc/Ggc,MODERATE,,0.827077,0.998,rs945384,0.45(T),0.001(B),1.74(L),-0.9971(T),,chr9,139616742,139616742,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser158Gly/c.472A>G|431|FAM69B|protein_coding|CODING|NM_152421.3|4|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.8282,0.9496,0.9642,0.84,0.62,0.96,,0.010640(N),0.999(P),"0.85,0.85(T,T)",0.0000(T),0.051,2.903816,4.6,0.846,0.392000,-0.093000,2.433000,0.982000,0.998000,1.000000,8.0496
synonymous_variant,FAM69B,SILENT,NM_152421.3:p.Leu244Leu/c.732T>C,ctT/ctC,LOW,COSM3750163(3),0.336462,0.1835,rs11849,,,,,,chr9,139617662,139617662,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu244Leu/c.732T>C|431|FAM69B|protein_coding|CODING|NM_152421.3|5|1),downstream_gene_variant(MODIFIER||1384|||SNHG7||NON_CODING|NR_024542.1||1),downstream_gene_variant(MODIFIER||1384|||SNHG7||NON_CODING|NR_024543.1||1)","H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.3476,0.3818,0.341,0.37,0.41,0.34,,,,,,,,,,,,,,,,
synonymous_variant,FAM69B,SILENT,NM_152421.3:p.Asn302Asn/c.906C>T,aaC/aaT,LOW,COSM3763790(1),0.0632987,0.001,rs6874,,,,,,chr9,139617836,139617836,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn302Asn/c.906C>T|431|FAM69B|protein_coding|CODING|NM_152421.3|5|1),downstream_gene_variant(MODIFIER||1210|||SNHG7||NON_CODING|NR_024542.1||1),downstream_gene_variant(MODIFIER||1210|||SNHG7||NON_CODING|NR_024543.1||1),downstream_gene_variant(MODIFIER||1848|||SNHG7||NON_CODING|NR_003672.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,K562:Yy1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.091,0.0735,0.1193,0.10,0.06,0.12,,,,,,,,,,,,,,,,
synonymous_variant,LCN8,SILENT,NM_178469.3:p.Tyr87Tyr/c.261C>T,taC/taT,LOW,,0.00439297,0,rs61740585,,,,,,chr9,139649934,139649934,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr87Tyr/c.261C>T|152|LCN8|protein_coding|CODING|NM_178469.3|4|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0031,0.0072,0.0139,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,LCN15,MISSENSE,NM_203347.1:p.Lys164Glu/c.490A>G,Aag/Gag,MODERATE,,0.733027,0.8512,rs2297722,1(T),0.0(B),-1.04(N),-1.0020(T),,chr9,139656670,139656670,T,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys164Glu/c.490A>G|184|LCN15|protein_coding|CODING|NM_203347.1|5|1),HepG2:HNF4A,,,,0.6299,0.7824,0.7803,0.75,0.69,0.78,,0.285771(N),1.000(P),2.88(T),0.0000(T),0.017,-2.669188,4.0,2.15,-0.726000,-0.052000,0.226000,0.000000,0.000000,0.000000,6.2477
missense_variant,LCN15,MISSENSE,NM_203347.1:p.Ser152Ala/c.454T>G,Tcc/Gcc,MODERATE,COSM4163575(1),0.733027,0.8512,rs2297723,0.38(T),0.0(B),-1.995(N),-1.0373(T),,chr9,139656706,139656706,A,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser152Ala/c.454T>G|184|LCN15|protein_coding|CODING|NM_203347.1|5|1),HepG2:HNF4A,,,,0.6309,0.7824,0.7823,0.75,0.69,0.78,,0.563770(N),1.000(P),3.24(T),0.0000(T),0.021,-1.269015,4.0,3.09,-0.121000,0.694000,0.484000,0.186000,0.401000,0.003000,4.2348
synonymous_variant,LCN15,SILENT,NM_203347.1:p.Ala131Ala/c.393C>G,gcC/gcG,LOW,COSM455615(4),0.704273,0.8562,rs9987876,,,,,,chr9,139657834,139657834,G,C,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala131Ala/c.393C>G|184|LCN15|protein_coding|CODING|NM_203347.1|4|1),"HeLa-S3:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:DNase1,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,K562:DNase1",,,,0.6207,0.7752,0.7823,0.71,0.59,0.78,,,,,,,,,,,,,,,,
missense_variant,CCDC183,MISSENSE,NM_001039374.4:p.Trp342Arg/c.1024T>C,Tgg/Cgg,MODERATE,COSM4163579(1),0.853435,0.8591,rs2811795,0.48(T),0.0(B),-1.845(N),-0.8441(T),,chr9,139700605,139700605,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp342Arg/c.1024T>C|534|CCDC183|protein_coding|CODING|NM_001039374.4|10|1),upstream_gene_variant(MODIFIER||1769||730|RABL6|protein_coding|CODING|NM_001173988.1||1),upstream_gene_variant(MODIFIER||1769||314|RABL6|protein_coding|CODING|NM_001173989.2||1),upstream_gene_variant(MODIFIER||1769||729|RABL6|protein_coding|CODING|NM_024718.4||1),intron_variant(MODIFIER|||n.650-25A>G||CCDC183-AS1||NON_CODING|NR_024580.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.819,0.719,0.8042,0.85,0.96,0.80,,0.035051(N),1.000(P),2.76(T),0.0000(T),0.023,-0.925937,5.07,-9.59,-1.169000,-1.882000,-0.677000,0.660000,0.001000,0.001000,14.9117
missense_variant,CCDC183,MISSENSE,NM_001039374.4:p.Asn421Thr/c.1262A>C,aAc/aCc,MODERATE,,0.80651,0.8581,rs2254143,0.54(T),0.0(B),-1.1(N),-1.0545(T),,chr9,139701108,139701108,A,C,hom,"missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn421Thr/c.1262A>C|534|CCDC183|protein_coding|CODING|NM_001039374.4|11|1),upstream_gene_variant(MODIFIER||1266||730|RABL6|protein_coding|CODING|NM_001173988.1||1),upstream_gene_variant(MODIFIER||1266||314|RABL6|protein_coding|CODING|NM_001173989.2||1),upstream_gene_variant(MODIFIER||1266||729|RABL6|protein_coding|CODING|NM_024718.4||1),intron_variant(MODIFIER|||n.497-119T>G||CCDC183-AS1||NON_CODING|NR_024580.1|2|1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.8149,0.7032,0.8032,0.81,0.82,0.80,,,0.987(P),2.84(T),0.0000(T),0.013,-0.794278,5.07,5.07,-0.217000,1.134000,0.816000,0.001000,0.003000,0.000000,11.0894
synonymous_variant,RABL6,SILENT,NM_001173988.1:p.Gly175Gly/c.525A>G,ggA/ggG,LOW,COSM4163585(2),0.816693,0.755,rs2811748,,,,-1.0292(T),,chr9,139726239,139726239,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly175Gly/c.525A>G|730|RABL6|protein_coding|CODING|NM_001173988.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly175Gly/c.525A>G|314|RABL6|protein_coding|CODING|NM_001173989.2|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly175Gly/c.525A>G|729|RABL6|protein_coding|CODING|NM_024718.4|6|1),downstream_gene_variant(MODIFIER||764|||MIR4292||NON_CODING|NR_036251.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7894,0.732,0.8877,0.87,0.89,0.86,,,0.000(P),,0.0000(T),.,1.207788,4.32,-0.567,-0.684000,-0.270000,-1.131000,0.803000,0.996000,0.016000,7.9028
synonymous_variant,RABL6,SILENT,NM_001173988.1:p.Ala328Ala/c.984C>T,gcC/gcT,LOW,COSM3763796(7),0.766573,0.8155,rs2811742,,,,,,chr9,139731969,139731969,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala328Ala/c.984C>T|730|RABL6|protein_coding|CODING|NM_001173988.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala327Ala/c.981C>T|729|RABL6|protein_coding|CODING|NM_024718.4|9|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7924,0.7032,0.8161,0.80,0.75,0.82,,,,,,,,,,,,,,,,
missense_variant,RABL6,MISSENSE,NM_001173988.1:p.Glu383Gln/c.1147G>C,Gag/Cag,MODERATE,,0.805511,0.8681,rs2811741,0.27(T),"0.943,0.951,0.895(D,D,P)",1.95(M),-1.0249(T),,chr9,139732331,139732331,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu383Gln/c.1147G>C|730|RABL6|protein_coding|CODING|NM_001173988.1|10|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu382Gln/c.1144G>C|729|RABL6|protein_coding|CODING|NM_024718.4|10|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7935,0.7104,0.8171,0.82,0.83,0.82,,0.462204(N),0.999(P),"-0.15,-0.15,0.86,-0.15,-0.19(T,T,T,T,T)",0.0000(T),0.172,2.865124,4.29,4.29,0.313000,1.950000,3.689000,0.005000,0.192000,1.000000,15.766
synonymous_variant,C9orf172,SILENT,NM_001080482.2:p.Pro259Pro/c.777T>C,ccT/ccC,LOW,COSM3750164(6),0.789137,0.879,rs10870132,,,,,,chr9,139739643,139739643,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro259Pro/c.777T>C|976|C9orf172|protein_coding|CODING|NM_001080482.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7822,0.6744,0.7972,,,,,,,,,,,,,,,,,,,
missense_variant,MAMDC4,MISSENSE,NM_206920.2:p.Ala209Thr/c.625G>A,Gct/Act,MODERATE,,0.0399361,0.001,rs45449193,0.45(T),0.002(B),-0.35(N),-1.0171(T),,chr9,139748483,139748483,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala209Thr/c.625G>A|1137|MAMDC4|protein_coding|CODING|NM_206920.2|6|1),"K562:H3K36me3,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:CTCF",,,,0.0869,0.0346,0.0885,0.06,0.02,0.09,,0.685730(N),1.000(N),"4.45,4.45(T,T)",0.0013(T),0.297,-1.037540,4.1,-5.55,-1.036000,-1.229000,0.051000,0.124000,0.004000,0.000000,6.8447
synonymous_variant,MAMDC4,SILENT,NM_206920.2:p.Arg291Arg/c.873C>T,cgC/cgT,LOW,COSM3763798(1),0.788339,0.875,rs7869864,0.03(D),,,-1.0163(T),,chr9,139749067,139749067,C,T,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg291Arg/c.873C>T|1137|MAMDC4|protein_coding|CODING|NM_206920.2|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7607,0.5605,0.7584,0.79,0.85,0.75,,0.021369(N),0.999(P),,0.0000(T),.,0.565172,4.61,-2.05,0.561000,-0.295000,-1.529000,0.014000,0.006000,0.000000,10.0255
synonymous_variant,MAMDC4,SILENT,NM_206920.2:p.Glu487Glu/c.1461G>A,gaG/gaA,LOW,COSM1106966(1),0.0061901,0,rs138811323,,,,-1.0186(T),,chr9,139750061,139750061,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu487Glu/c.1461G>A|1137|MAMDC4|protein_coding|CODING|NM_206920.2|12|1),"H1ESC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.013,0.0119,0.01,0.00,0.02,,,0.946(N),,0.0430(T),.,-0.683935,4.76,0.0142,0.561000,0.074000,0.810000,0.136000,0.157000,0.735000,7.8298
missense_variant,MAMDC4,MISSENSE,NM_206920.2:p.Trp908Gly/c.2722T>G,Tgg/Ggg,MODERATE,COSM3763801(5),,,rs2275156,,,1.95(M),-1.0189(T),,chr9,139752899,139752899,T,G,hom,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp908Gly/c.2722T>G|1137|MAMDC4|protein_coding|CODING|NM_206920.2|22|1),"H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.76,0.83,0.73,,,0.999(P),,0.0000(T),.,0.170594,5.05,1.29,0.459000,-0.021000,0.076000,0.941000,0.232000,0.007000,3.7674
missense_variant,C8G,MISSENSE,NM_000606.2:p.Asp118Gly/c.353A>G,gAc/gGc,MODERATE,,0.967252,1,rs7850844,0.52(T),0.0(B),-2.295(N),-0.9572(T),,chr9,139840543,139840543,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp118Gly/c.353A>G|202|C8G|protein_coding|CODING|NM_000606.2|4|1),upstream_gene_variant(MODIFIER||1337||566|FBXW5|protein_coding|CODING|NM_018998.3||1)",HepG2:DNase1,,,,0.9826,0.9726,0.9394,0.95,0.96,0.95,,0.044054(N),1.000(P),"2.75,2.36(T,T)",0.0000(T),0.026,0.355560,4.15,4.15,-0.215000,1.097000,1.809000,0.308000,0.086000,0.206000,11.2325
missense_variant,C8G,MISSENSE,NM_000606.2:p.His124Asn/c.370C>A,Cac/Aac,MODERATE,,0.107827,0.0278,rs17613,0.34(T),0.003(B),0.69(N),-0.9302(T),,chr9,139840560,139840560,C,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His124Asn/c.370C>A|202|C8G|protein_coding|CODING|NM_000606.2|4|1),upstream_gene_variant(MODIFIER||1354||566|FBXW5|protein_coding|CODING|NM_018998.3||1)",HepG2:DNase1,,,,0.0757,0.1066,0.1312,0.16,0.19,0.14,,0.066486(N),1.000(P),"3.21,3.21(T,T)",0.0000(T),0.03,1.116446,4.15,2.29,0.561000,0.504000,0.407000,0.007000,0.025000,0.377000,7.6955
synonymous_variant,C8G,SILENT,NM_000606.2:p.Thr130Thr/c.390C>T,acC/acT,LOW,,0.108427,0.0288,rs20574,,,,,,chr9,139840580,139840580,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr130Thr/c.390C>T|202|C8G|protein_coding|CODING|NM_000606.2|4|1),upstream_gene_variant(MODIFIER||1374||566|FBXW5|protein_coding|CODING|NM_018998.3||1)",HepG2:DNase1,,,,0.0757,0.1066,0.1312,0.16,0.19,0.14,,,,,,,,,,,,,,,,
synonymous_variant,LCN12,SILENT,NM_178536.3:p.Ile177Ile/c.531C>T,atC/atT,LOW,COSM455625(4),0.749201,0.8641,rs4880175,0(D),,,-1.0207(T),,chr9,139848688,139848688,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile177Ile/c.531C>T|192|LCN12|protein_coding|CODING|NM_178536.3|5|1),"GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6585,0.5807,0.6869,0.74,0.85,0.69,,,1.000(P),,0.0000(T),.,0.491255,2.75,-4.2,-0.893000,-1.562000,-0.711000,0.089000,0.000000,0.000000,6.4504
synonymous_variant,PTGDS,SILENT,NM_000954.5:p.Thr6Thr/c.18A>G,acA/acG,LOW,COSM4163602(1),0.954872,1,rs4880179,,,,,,chr9,139872048,139872048,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr6Thr/c.18A>G|190|PTGDS|protein_coding|CODING|NM_000954.5|1|1),"H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.9836,0.964,0.9533,0.94,0.90,0.96,,,,,,,,,,,,,,,,
missense_variant,LCNL1,MISSENSE,NM_207510.3:p.Ala68Thr/c.202G>A,Gcc/Acc,MODERATE,COSM3763805(2),0.230232,0.1716,rs17578859,0.12(T),0.361(B),0.895(L),-0.8931(T),,chr9,139879170,139879170,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala68Thr/c.202G>A|164|LCNL1|protein_coding|CODING|NM_207510.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2076,0.3934,0.2594,0.22,0.19,0.24,,,0.118(P),2.78(T),0.0000(T),0.054,3.097905,4.18,1.09,0.479000,0.299000,0.994000,0.055000,0.755000,0.310000,3.588
synonymous_variant,ABCA2,SILENT,NM_212533.2:p.Leu2260Leu/c.6780T>C,ctT/ctC,LOW,COSM3763806(1),0.720048,0.8194,rs7048567,,,,,,chr9,139904037,139904037,A,G,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu2230Leu/c.6690T>C|2436|ABCA2|protein_coding|CODING|NM_001606.4|44|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu2260Leu/c.6780T>C|2466|ABCA2|protein_coding|CODING|NM_212533.2|44|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K36me3",,,,0.7802,0.5605,0.6759,0.71,0.73,0.70,,,,,,,,,,,,,,,,
synonymous_variant,ABCA2,SILENT,NM_212533.2:p.His1854His/c.5562C>T,caC/caT,LOW,COSM3763807(1),0.6873,0.8175,rs2271862,,,,,,chr9,139906359,139906359,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His1824His/c.5472C>T|2436|ABCA2|protein_coding|CODING|NM_001606.4|35|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1854His/c.5562C>T|2466|ABCA2|protein_coding|CODING|NM_212533.2|35|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7423,0.5403,0.67,0.68,0.64,0.70,,,,,,,,,,,,,,,,
synonymous_variant,ABCA2,SILENT,NM_212533.2:p.Asp709Asp/c.2127T>C,gaT/gaC,LOW,COSM4163605(1),0.963858,0.999,rs908832,,,,,,chr9,139912484,139912484,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp679Asp/c.2037T>C|2436|ABCA2|protein_coding|CODING|NM_001606.4|15|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp709Asp/c.2127T>C|2466|ABCA2|protein_coding|CODING|NM_212533.2|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9734,0.9841,0.9672,0.96,0.95,0.97,,,,,,,,,,,,,,,,
missense_variant,ABCA2,MISSENSE,NM_212533.2:p.His614Pro/c.1841A>C,cAc/cCc,MODERATE,,1,1,rs908828,1(T),"0.0,0.0(B,B)",-2.015(N),-0.9363(T),,chr9,139913239,139913239,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His584Pro/c.1751A>C|2436|ABCA2|protein_coding|CODING|NM_001606.4|13|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His614Pro/c.1841A>C|2466|ABCA2|protein_coding|CODING|NM_212533.2|13|1)","IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.486936(N),0.371(P),"-2.01,-2.01,-2.01(D,D,D)",0.0000(T),0.44,0.022021,4.31,4.31,-0.335000,0.807000,7.529000,0.298000,0.670000,1.000000,13.5642
synonymous_variant,ABCA2,SILENT,NM_212533.2:p.Ala20Ala/c.60T>C,gcT/gcC,LOW,,0.766573,0.7708,rs4880189,,,,,,chr9,139923265,139923265,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala20Ala/c.60T>C|2466|ABCA2|protein_coding|CODING|NM_212533.2|1|1),upstream_gene_variant(MODIFIER||525||2436|ABCA2|protein_coding|CODING|NM_001606.4||1),downstream_gene_variant(MODIFIER||1361||342|FUT7|protein_coding|CODING|NM_004479.3||1),intron_variant(MODIFIER|||c.-1067+902A>G|190|C9orf139|protein_coding|CODING|NM_207511.1|1|1)","NHEK:CTCF,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,K562:TFIIIC-110,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,H1ESC:CTCF,HeLa-S3:E2F6,GM06990:CTCF",,,,0.773,0.6859,0.7256,0.77,0.85,0.74,,,,,,,,,,,,,,,,
synonymous_variant,ENTPD2,SILENT,NM_203468.2:p.Ile495Ile/c.1485T>C,atT/atC,LOW,COSM3763808(6),0.230032,0.3522,rs17853460,,,,,,chr9,139943112,139943112,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile472Ile/c.1416T>C|472|ENTPD2|protein_coding|CODING|NM_001246.3|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile495Ile/c.1485T>C|495|ENTPD2|protein_coding|CODING|NM_203468.2|9|1)","GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,0.2423,0.3156,0.2266,0.18,0.12,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ENTPD2,SILENT,NM_203468.2:p.Ser255Ser/c.765C>T,agC/agT,LOW,COSM4163609(1),0.21905,0.3472,rs2292925,,,,,,chr9,139945363,139945363,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser255Ser/c.765C>T|472|ENTPD2|protein_coding|CODING|NM_001246.3|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser255Ser/c.765C>T|495|ENTPD2|protein_coding|CODING|NM_203468.2|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.2393,0.317,0.2247,0.18,0.09,0.23,,,,,,,,,,,,,,,,
missense_variant,MAN1B1,MISSENSE,NM_016219.4:p.Asn59Ser/c.176A>G,aAc/aGc,MODERATE,COSM4163617(1),0.905351,0.995,rs968733,1(T),0.0(B),-0.805(N),-0.9793(T),,chr9,139981627,139981627,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn59Ser/c.176A>G|699|MAN1B1|protein_coding|CODING|NM_016219.4|1|1),upstream_gene_variant(MODIFIER||358|||MAN1B1-AS1||NON_CODING|NR_027447.1||1),non_coding_exon_variant(MODIFIER|||n.249A>G||MAN1B1||CODING|NR_045720.1|1|1),non_coding_exon_variant(MODIFIER|||n.249A>G||MAN1B1||CODING|NR_045721.1|1|1)","NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:SP1,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,GM12878:PU1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6",,RCV000117582.2,,0.9908,0.9798,0.997,0.91,0.75,1.00,,,0.000(P),2.05(T),0.0000(T),0.028,0.957975,3.51,2.59,-1.547000,0.283000,0.911000,0.250000,0.615000,0.861000,7.8423
missense_variant,CYSRT1,MISSENSE,NM_199001.3:p.Ala148Val/c.443C>T,gCg/gTg,MODERATE,COSM3763816(2),0.841853,0.8968,rs6606566,1(T),0.0(B),-0.345(N),-0.9618(T),,chr9,140120396,140120396,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala148Val/c.443C>T|184|CYSRT1|protein_coding|CODING|NM_199001.3|2|1),upstream_gene_variant(MODIFIER||1622||156|RNF224|protein_coding|CODING|NM_001190228.1||1)","HeLa-S3:H3K9ac,HepG2:PolII,HeLa-S3:PolII,HeLa-S3:H3K27ac,HMEC:H3K4me1,HeLa-S3:H3K4me3",,,,0.8793,0.8559,0.7972,0.82,0.81,0.82,,0.114508(N),1.000(P),,0.0000(T),0.013,-1.728644,4.28,3.11,-0.521000,0.515000,0.261000,0.016000,0.000000,0.000000,6.4109
missense_variant,SLC34A3,MISSENSE,NM_001177316.1:p.Glu513Val/c.1538A>T,gAg/gTg,MODERATE,COSM455647(3),0.946086,1,rs28542318,1(T),0.0(B),-2.61(N),-0.9793(T),,chr9,140130606,140130606,A,T,hom,"missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu513Val/c.1538A>T|599|SLC34A3|protein_coding|CODING|NM_001177316.1|13|1),missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu513Val/c.1538A>T|599|SLC34A3|protein_coding|CODING|NM_001177317.1|13|1),missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu513Val/c.1538A>T|599|SLC34A3|protein_coding|CODING|NM_080877.2|13|1)","HepG2:H3K4me2,H1ESC:DNase1,CD4:H4K20me1,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HepG2:H3K27me3",,,,0.9427,0.9481,0.838,0.89,0.97,0.85,,0.000106(N),0.999(P),"1.78,1.78(T,T)",0.0000(T),0.248,-1.210570,4.24,4.24,-0.448000,0.789000,2.235000,0.010000,0.973000,1.000000,8.5894
splice_donor_variant,FAM166A,protein_coding,NM_001001710.2:c.523C>T,,HIGH,,0.997005,1,rs9775264,,,,,FAM166A:1.00(1);,chr9,140139757,140139757,G,A,hom,"splice_donor_variant(HIGH|||c.523C>T|317|FAM166A|protein_coding|CODING|NM_001001710.2|3|1),downstream_gene_variant(MODIFIER||1598||445|TUBB4B|protein_coding|CODING|NM_006088.5||1),intron_variant(MODIFIER|||c.522+2C>T|317|FAM166A|protein_coding|CODING|NM_001001710.2|3|1)","NHEK:CTCF,K562:PolII,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,0.9957,0.9881,0.99,1.00,0.99,,,0.000(P),,,.,0.120024,5.23,4.09,-1.327000,0.307000,1.445000,0.011000,0.709000,0.168000,7.1366
synonymous_variant,C9orf173,SILENT,NM_001256699.1:p.Pro177Pro/c.531C>G,ccC/ccG,LOW,COSM4163635(1),0.609824,0.4772,rs28376526,,,,,,chr9,140147152,140147152,C,G,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro177Pro/c.531C>G|308|C9orf173|protein_coding|CODING|NM_001004353.3|5|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro177Pro/c.531C>G|386|C9orf173|protein_coding|CODING|NM_001256699.1|5|1),intron_variant(MODIFIER|||n.436+175G>C||C9orf173-AS1||NON_CODING|NR_038389.1|2|1),intron_variant(MODIFIER|||c.493-127C>G|331|C9orf173|protein_coding|CODING|NM_001256700.1|4|1),intron_variant(MODIFIER|||c.493-127C>G|253|C9orf173|protein_coding|CODING|NM_001256701.1|4|1),intron_variant(MODIFIER|||n.439-139C>G||C9orf173||CODING|NR_046340.1|4|1),non_coding_exon_variant(MODIFIER|||n.422C>G||C9orf173||CODING|NR_046339.1|4|1)","HeLa-S3:DNase1,H1ESC:DNase1,K562:DNase1",,,,0.681,0.7608,0.7237,0.69,0.55,0.75,,,,,,,,,,,,,,,,
synonymous_variant,NELFB,SILENT,NM_015456.3:p.Pro517Pro/c.1551G>A,ccG/ccA,LOW,COSM455656(3),0.615216,0.4782,rs3204123,,,,,,chr9,140167022,140167022,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro517Pro/c.1551G>A|580|NELFB|protein_coding|CODING|NM_015456.3|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6759,0.7608,0.7276,0.69,0.54,0.76,,,,,,,,,,,,,,,,
missense_variant,EXD3,MISSENSE,NM_017820.4:p.Cys545Tyr/c.1634G>A,tGc/tAc,MODERATE,COSM1132534(1),0.579473,0.8403,rs28545754,1(T),"0.012,0.015(B,B)",0(N),-0.9459(T),,chr9,140243844,140243844,C,T,hom,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys545Tyr/c.1634G>A|876|EXD3|protein_coding|CODING|NM_017820.4|15|1),"HUVEC:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3",,,,0.8303,0.4135,0.6054,0.53,0.33,0.64,,0.200172(U),1.000(P),"0.05,0.05(T,T)",0.0000(T),0.135,0.571880,3.8,1.9,-0.560000,0.121000,0.764000,0.000000,0.000000,0.000000,5.7863
missense_variant,EXD3,MISSENSE,NM_017820.4:p.Glu322Asp/c.966A>C,gaA/gaC,MODERATE,COSM1489843(2),0.933906,0.998,rs7020732,0.73(T),"0.0,0.0(B,B)",-1.61(N),-1.0082(T),,chr9,140247143,140247143,T,G,hom,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu322Asp/c.966A>C|876|EXD3|protein_coding|CODING|NM_017820.4|11|1),H1ESC:H3K36me3,,,,0.9438,0.8732,0.8718,0.91,0.95,0.89,,0.573048(N),1.000(P),"0.03,0.59(T,T)",0.0000(T),0.057,0.654695,3.53,0.0674,-0.677000,-0.145000,1.123000,0.001000,0.002000,0.017000,3.9996
missense_variant,EXD3,MISSENSE,NM_017820.4:p.Arg220Gln/c.659G>A,cGg/cAg,MODERATE,,0.920727,0.998,rs7389423,1(T),0.0(B),-1.085(N),-0.9838(T),,chr9,140250818,140250818,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg220Gln/c.659G>A|876|EXD3|protein_coding|CODING|NM_017820.4|8|1),splice_region_variant(LOW|||c.659G>A|876|EXD3|protein_coding|CODING|NM_017820.4|8|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.9427,0.879,0.8678,0.89,0.91,0.88,,0.407307(N),0.820(P),0.69(T),0.0000(T),0.049,-1.250896,2.65,-0.144,-0.847000,-0.568000,-0.788000,0.022000,0.001000,0.000000,7.0924
missense_variant,EXD3,MISSENSE,NM_017820.4:p.Ala160Thr/c.478G>A,Gcg/Acg,MODERATE,COSM1461396(2),0.70607,0.8522,rs11533158,1(T),"0.0,0.0(B,B)",-1.78(N),-0.9995(T),,chr9,140262426,140262426,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala160Thr/c.478G>A|246|EXD3|protein_coding|CODING|NM_001286823.1|6|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala160Thr/c.478G>A|876|EXD3|protein_coding|CODING|NM_017820.4|6|1),non_coding_exon_variant(MODIFIER|||n.1088G>A||EXD3||CODING|NR_104598.1|9|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.8323,0.7089,0.659,0.65,0.55,0.70,,0.143056(N),0.998(P),"0.78,1.61(T,T)",0.0000(T),0.016,-0.448390,2.85,-1.53,-0.959000,-0.453000,0.014000,0.196000,0.118000,0.004000,2.5199
missense_variant,EXD3,MISSENSE,NM_017820.4:p.Ala110Val/c.329C>T,gCg/gTg,MODERATE,COSM3763818(1),0.0127796,0,rs143312119,0.08(T),"0.109,0.306(B,B)",1.575(L),-1.0303(T),,chr9,140267490,140267490,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala110Val/c.329C>T|246|EXD3|protein_coding|CODING|NM_001286823.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala110Val/c.329C>T|876|EXD3|protein_coding|CODING|NM_017820.4|5|1),non_coding_exon_variant(MODIFIER|||n.939C>T||EXD3||CODING|NR_104598.1|8|1)","HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.0123,0.0173,0.0358,0.02,0.01,0.03,,0.000188(N),1.000(N),"0.54,1.08(T,T)",0.0404(T),0.089,1.335343,4.38,0.277,0.313000,-0.014000,0.162000,0.083000,0.012000,0.000000,6.9062
missense_variant,EXD3,MISSENSE,NM_017820.4:p.Arg20Gln/c.59G>A,cGg/cAg,MODERATE,COSM4163644(1),0.545327,0.3849,rs13291830,0.57(T),"0.001,0.0(B,B)",-1.845(N),-1.0044(T),,chr9,140277826,140277826,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg20Gln/c.59G>A|246|EXD3|protein_coding|CODING|NM_001286823.1|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg20Gln/c.59G>A|876|EXD3|protein_coding|CODING|NM_017820.4|3|1),non_coding_exon_variant(MODIFIER|||n.255G>A||EXD3||CODING|NR_104598.1|3|1)","H1ESC:H3K36me3,H1ESC:DNase1,K562:Cmyc,K562:E2F6,K562:DNase1",,,,0.3845,0.4539,0.6203,0.65,0.77,0.60,,0.004019(N),0.000(P),"0.78,1.58(T,T)",0.0000(T),0.022,1.995825,2.32,-2.21,-0.871000,-1.248000,-1.620000,0.407000,0.910000,0.011000,7.97
missense_variant,NOXA1,MISSENSE,NM_006647.1:p.Pro286Leu/c.857C>T,cCg/cTg,MODERATE,COSM1461403(1),0.212061,0.247,rs34155071,0.46(T),"0.002,0.001,0.001(B,B,B)",0.55(N),-1.0528(T),,chr9,140327663,140327663,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro286Leu/c.857C>T|476|NOXA1|protein_coding|CODING|NM_001256067.1|10|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro230Leu/c.689C>T|427|NOXA1|protein_coding|CODING|NM_001256068.1|8|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro286Leu/c.857C>T|483|NOXA1|protein_coding|CODING|NM_006647.1|10|1),downstream_gene_variant(MODIFIER||1153||495|ENTPD8|protein_coding|CODING|NM_001033113.1||1),downstream_gene_variant(MODIFIER||1153||458|ENTPD8|protein_coding|CODING|NM_198585.2||1)",NHEK:H3K27me3,,,,0.3078,0.1326,0.3151,0.24,0.10,0.31,,0.007549(N),1.000(P),"-2.02,-2.01(D,D)",0.0000(T),0.05,0.199935,3.17,-6.34,-0.974000,-2.169000,-2.879000,0.000000,0.000000,0.000000,5.8021
synonymous_variant,ENTPD8,SILENT,NM_001033113.1:p.Val261Val/c.783A>G,gtA/gtG,LOW,,0.943291,0.9891,rs13297080,,,,,,chr9,140330976,140330976,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val261Val/c.783A>G|495|ENTPD8|protein_coding|CODING|NM_001033113.1|6|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val261Val/c.783A>G|458|ENTPD8|protein_coding|CODING|NM_198585.2|6|1)","HeLa-S3:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9489,0.9553,0.9344,0.92,0.90,0.93,,,,,,,,,,,,,,,,
missense_variant,ENTPD8,MISSENSE,NM_001033113.1:p.Leu62Pro/c.185T>C,cTg/cCg,MODERATE,,0.969649,0.998,rs6606582,1(T),"0.0,0.0(B,B)",-2.77(N),-1.0143(T),,chr9,140332478,140332478,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu62Pro/c.185T>C|495|ENTPD8|protein_coding|CODING|NM_001033113.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu62Pro/c.185T>C|458|ENTPD8|protein_coding|CODING|NM_198585.2|3|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9427,0.964,0.9374,0.95,0.99,0.93,,0.000138(N),0.055(P),"2.84,2.84,2.84,2.84(T,T,T,T)",0.0000(T),0.42,-0.752926,4.37,2.47,-0.215000,0.126000,1.369000,0.730000,0.518000,0.936000,6.1091
synonymous_variant,PNPLA7,SILENT,NM_001098537.2:p.Leu1239Leu/c.3717C>G,ctC/ctG,LOW,COSM3763820(2),0.489617,0.8204,rs28452008,,,,,,chr9,140356422,140356422,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1239Leu/c.3717C>G|1342|PNPLA7|protein_coding|CODING|NM_001098537.2|32|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1214Leu/c.3642C>G|1317|PNPLA7|protein_coding|CODING|NM_152286.4|31|1)","HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,CD4:H4K91ac,CD4:DNase1,K562:CTCF,CD4:H2BK20ac,H1ESC:H3K27me3,H1ESC:DNase1,GM12878:ELF1,HUVEC:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,NHEK:H3K27me3,GM12878:PolII,K562:Egr1,CD4:CTCF,CD4:H3K4ac,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,GM12878:Tcf12,K562:DNase1,GM06990:CTCF",,,,0.5818,0.3588,0.3847,0.35,0.32,0.37,,,,,,,,,,,,,,,,
missense_variant,PNPLA7,MISSENSE,NM_001098537.2:p.Trp1080Arg/c.3238T>C,Tgg/Cgg,MODERATE,,0.997204,1,rs1891627,1(T),"0.0,0.0,0.0(B,B,B)",-2.99(N),-0.9997(T),,chr9,140357972,140357972,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1080Arg/c.3238T>C|1342|PNPLA7|protein_coding|CODING|NM_001098537.2|29|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1055Arg/c.3163T>C|1317|PNPLA7|protein_coding|CODING|NM_152286.4|28|1)","HepG2:p300,H1ESC:H3K27me3,HepG2:PolII,HepG2:HEY1,NHEK:H3K27me3,HepG2:HNF4A,HepG2:TAF1,HepG2:DNase1",,,,1,0.9813,0.999,1.00,1.00,1.00,,0.000000(N),0.979(P),"2.23,2.23,2.23,2.23,2.23(T,T,T,T,T)",0.0000(T),0.326,-1.913721,4.48,2.16,-0.215000,-0.043000,0.105000,0.141000,0.676000,0.957000,7.3272
missense_variant,PNPLA7,MISSENSE,NM_001098537.2:p.Val828Ala/c.2483T>C,gTa/gCa,MODERATE,,1,1,rs1891630,1(T),"0.0,0.0,0.0(B,B,B)",-2.405(N),-0.9675(T),,chr9,140374861,140374861,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val828Ala/c.2483T>C|1342|PNPLA7|protein_coding|CODING|NM_001098537.2|23|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val803Ala/c.2408T>C|1317|PNPLA7|protein_coding|CODING|NM_152286.4|22|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.000415(N),0.999(P),"1.83,1.83,1.83,1.83,1.83(T,T,T,T,T)",0.0000(T),0.155,-0.849328,4.92,4.02,-0.642000,0.507000,6.399000,0.026000,0.912000,1.000000,10.7163
synonymous_variant,EHMT1,SILENT,NM_024757.4:p.Ser348Ser/c.1044G>A,tcG/tcA,LOW,COSM3763832(1),0.152356,0.1012,rs1129767,,,,,,chr9,140638416,140638416,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser348Ser/c.1044G>A|808|EHMT1|protein_coding|CODING|NM_001145527.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser348Ser/c.1044G>A|1298|EHMT1|protein_coding|CODING|NM_024757.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000055953.1|RCV000082212.3,,0.2209,0.3862,0.167,0.13,0.04,0.18,,,,,,,,,,,,,,,,
synonymous_variant,EHMT1,SILENT,NM_024757.4:p.Gly363Gly/c.1089T>C,ggT/ggC,LOW,COSM3763833(1),0.46885,0.1171,rs1129768,,,,,,chr9,140638461,140638461,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly363Gly/c.1089T>C|808|EHMT1|protein_coding|CODING|NM_001145527.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly363Gly/c.1089T>C|1298|EHMT1|protein_coding|CODING|NM_024757.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000055954.1|RCV000082213.3,,0.3446,0.5634,0.3439,0.50,0.78,0.36,,,,,,,,,,,,,,,,
missense_variant,EHMT1,MISSENSE,NM_024757.4:p.Ala388Thr/c.1162G>A,Gcc/Acc,MODERATE,,0.00678914,0,rs11137198,0.74(T),"0.001,0.009,0.009(B,B,B)",0.69(N),-1.0454(T),,chr9,140638534,140638534,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala388Thr/c.1162G>A|808|EHMT1|protein_coding|CODING|NM_001145527.1|6|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala388Thr/c.1162G>A|1298|EHMT1|protein_coding|CODING|NM_024757.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116957.2,,0.0092,0.0058,0.0199,0.02,0.00,0.02,,0.523050(N),1.000(N),"1.67,0.91,-0.42(T,T,T)",0.0642(T),0.041,0.010439,5.25,-0.306,-1.036000,-0.417000,0.074000,0.026000,0.021000,0.022000,4.0512
missense_variant,CACNA1B,MISSENSE,NM_000718.3:p.Gly17Ser/c.49G>A,Ggc/Agc,MODERATE,COSM4163655(1),0.0884585,0.003,rs187204220,0.81(T),0.011(B),2.045(M),-0.5532(T),,chr9,140772434,140772434,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly17Ser/c.49G>A|2339|CACNA1B|protein_coding|CODING|NM_000718.3|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly17Ser/c.49G>A|2237|CACNA1B|protein_coding|CODING|NM_001243812.1|1|1),intron_variant(MODIFIER|||n.2692-2302C>T||LOC100133077||NON_CODING|NR_121583.1|2|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:USF1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1299,0.1282,0.1412,,,,,0.488085(N),1.000(D),"-4.07,-4.06,-4.03,-4.05,-4.06(D,D,D,D,D)",0.1234(T),0.246,1.797415,3.55,2.65,0.281000,0.505000,1.868000,0.530000,0.999000,0.998000,9.8524
synonymous_variant,CACNA1B,SILENT,NM_000718.3:p.Glu19Glu/c.57G>A,gaG/gaA,LOW,,0.0872604,0.003,rs191962352,,,,,,chr9,140772442,140772442,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu19Glu/c.57G>A|2339|CACNA1B|protein_coding|CODING|NM_000718.3|1|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu19Glu/c.57G>A|2237|CACNA1B|protein_coding|CODING|NM_001243812.1|1|1),intron_variant(MODIFIER|||n.2692-2310C>T||LOC100133077||NON_CODING|NR_121583.1|2|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:USF1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1299,0.1282,0.1412,,,,,,,,,,,,,,,,,,,
missense_variant,CACNA1B,MISSENSE,NM_000718.3:p.Gly165Val/c.494G>T,gGc/gTc,MODERATE,COSM3763835(1),,,rs71238527,0.03(D),1.0(D),2.31(M),-0.7253(T),,chr9,140777299,140777299,G,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly165Val/c.494G>T|2339|CACNA1B|protein_coding|CODING|NM_000718.3|3|1),missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly165Val/c.494G>T|2237|CACNA1B|protein_coding|CODING|NM_001243812.1|3|1),non_coding_exon_variant(MODIFIER|||n.2681C>A||LOC100133077||NON_CODING|NR_121583.1|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.09,0.02,0.12,,0.000000(D),1.000(D),"-4.9,-4.9,-4.9,-4.9,-4.9(D,D,D,D,D)",0.2746(T),0.533,1.738315,4.57,4.57,0.467000,2.070000,9.633000,0.154000,0.999000,1.000000,17.3563
missense_variant,CACNA1B,MISSENSE,NM_000718.3:p.Asn167Lys/c.501C>G,aaC/aaG,MODERATE,COSM4007112(3),,,rs4422842,0.02(D),0.999(D),4.925(H),1.0090(D),,chr9,140777306,140777306,C,G,het,"missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn167Lys/c.501C>G|2339|CACNA1B|protein_coding|CODING|NM_000718.3|3|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn167Lys/c.501C>G|2237|CACNA1B|protein_coding|CODING|NM_001243812.1|3|1),non_coding_exon_variant(MODIFIER|||n.2674G>C||LOC100133077||NON_CODING|NR_121583.1|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),"-5.66,-5.66,-5.66,-5.66,-5.66(D,D,D,D,D)",0.9869(D),0.542,1.490893,4.57,-4.66,-2.755000,-0.938000,-1.175000,0.173000,0.957000,0.004000,13.2149
synonymous_variant,CACNA1B,SILENT,NM_000718.3:p.Phe1861Phe/c.5583C>T,ttC/ttT,LOW,,0.504593,0.2748,rs2229948,,,,,,chr9,141008876,141008876,C,T,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1861Phe/c.5583C>T|2339|CACNA1B|protein_coding|CODING|NM_000718.3|40|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1861Phe/c.5583C>T|2237|CACNA1B|protein_coding|CODING|NM_001243812.1|40|1)","H1ESC:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6656,0.745,0.7773,0.63,0.36,0.75,,,,,,,,,,,,,,,,
missense_variant,CACNA1B,MISSENSE,NM_001243812.1:p.Leu2215Arg/c.6644T>G,cTc/cGc,MODERATE,COSM3763836(1),0.910743,0.8075,rs2278973,0.71(T),,,-1.0245(T),,chr9,141016262,141016262,T,G,hom,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu2215Arg/c.6644T>G|2237|CACNA1B|protein_coding|CODING|NM_001243812.1|46|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr2277Thr/c.6831T>G|2339|CACNA1B|protein_coding|CODING|NM_000718.3|46|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9335,0.9193,0.9115,0.93,0.96,0.91,,,0.172(P),-4.06(D),0.0000(T),.,1.708315,5.11,-7.22,-1.197000,-1.995000,-0.665000,0.923000,0.621000,0.118000,6.2583
synonymous_variant,ZMYND11,SILENT,NM_006624.5:p.Glu537Glu/c.1611A>G,gaA/gaG,LOW,,0.935903,0.9454,rs1017361,,,,,,chr10,294953,294953,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu483Glu/c.1449A>G|548|ZMYND11|protein_coding|CODING|NM_001202464.1|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu452Glu/c.1356A>G|517|ZMYND11|protein_coding|CODING|NM_001202465.1|12|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu482Glu/c.1446A>G|547|ZMYND11|protein_coding|CODING|NM_001202466.1|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu537Glu/c.1611A>G|602|ZMYND11|protein_coding|CODING|NM_006624.5|14|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu483Glu/c.1449A>G|514|ZMYND11|protein_coding|CODING|NM_001202467.1|12|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu537Glu/c.1611A>G|568|ZMYND11|protein_coding|CODING|NM_001202468.1|13|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu536Glu/c.1608A>G|567|ZMYND11|protein_coding|CODING|NM_212479.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9714,0.9164,0.9781,0.95,0.90,0.98,,,,,,,,,,,,,,,,
synonymous_variant,DIP2C,SILENT,NM_014974.2:p.Tyr1551Tyr/c.4653T>C,taT/taC,LOW,,0.284145,0.2381,rs3740304,,,,,,chr10,323283,323283,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1551Tyr/c.4653T>C|1556|DIP2C|protein_coding|CODING|NM_014974.2|37|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.3395,0.2594,0.2575,0.26,0.29,0.25,,,,,,,,,,,,,,,,
synonymous_variant,DIP2C,SILENT,NM_014974.2:p.Gly622Gly/c.1866C>T,ggC/ggT,LOW,COSM1128057(2),0.38139,0.4623,rs10904083,,,,-0.9969(T),,chr10,429977,429977,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly622Gly/c.1866C>T|1556|DIP2C|protein_coding|CODING|NM_014974.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4663,0.4135,0.332,0.32,0.29,0.34,,,0.000(P),,0.0000(T),.,-1.214238,5.43,-10.9,-1.468000,-2.431000,-1.514000,0.004000,0.017000,0.001000,3.0353
synonymous_variant,DIP2C,SILENT,NM_014974.2:p.Pro416Pro/c.1248G>A,ccG/ccA,LOW,COSM3751791(1),0.979433,0.9861,rs6560837,,,,,,chr10,445061,445061,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro416Pro/c.1248G>A|1556|DIP2C|protein_coding|CODING|NM_014974.2|10|1),"IMR90:H3K36me3,NHEK:H3K36me3,H1ESC:CTCF",,,,0.999,0.9942,0.998,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DIP2C,SILENT,NM_014974.2:p.Leu324Leu/c.970C>T,Ctg/Ttg,LOW,COSM3747177(1),0.626797,0.6915,rs4881274,,,,,,chr10,459940,459940,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu324Leu/c.970C>T|1556|DIP2C|protein_coding|CODING|NM_014974.2|8|1),"GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7147,0.6268,0.5417,0.55,0.56,0.54,,,,,,,,,,,,,,,,
synonymous_variant,GTPBP4,SILENT,NM_012341.2:p.Ala250Ala/c.750G>A,gcG/gcA,LOW,COSM3751502(1),0.530152,0.6111,rs2306409,,,,,,chr10,1046712,1046712,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala250Ala/c.750G>A|634|GTPBP4|protein_coding|CODING|NM_012341.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6135,0.5447,0.5199,0.50,0.43,0.53,,,,,,,,,,,,,,,,
missense_variant,ADARB2,MISSENSE,NM_018702.3:p.Ala626Thr/c.1876G>A,Gcc/Acc,MODERATE,COSM1560925(2),0.543131,0.6696,rs2271275,0.22(T),"0.098,0.08,0.376(B,B,B)",1.68(L),-0.9260(T),,chr10,1230968,1230968,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala626Thr/c.1876G>A|739|ADARB2|protein_coding|CODING|NM_018702.3|9|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6892,0.5115,0.6809,0.56,0.32,0.68,,0.000099(D),0.000(P),"-3.3,-3.3,-3.3(D,D,D)",0.0000(T),0.383,2.281430,4.81,4.81,0.561000,2.220000,1.502000,0.138000,0.046000,0.631000,17.8992
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Arg117Arg/c.351A>C,cgA/cgC,LOW,COSM4144639(1),0.998602,0.998,rs4881080,,,,,,chr10,3143643,3143643,A,C,hom,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg109Arg/c.327A>C|776|PFKP|protein_coding|CODING|NM_001242339.1|6|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg117Arg/c.351A>C|784|PFKP|protein_coding|CODING|NM_002627.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Ile125Ile/c.375C>T,atC/atT,LOW,,0.0107827,0.003,rs11542777,,,,,,chr10,3143667,3143667,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile117Ile/c.351C>T|776|PFKP|protein_coding|CODING|NM_001242339.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile125Ile/c.375C>T|784|PFKP|protein_coding|CODING|NM_002627.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0115,0.0219,0.02,0.02,0.02,,,,,,,,,,,,,,,,
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Val292Val/c.876C>T,gtC/gtT,LOW,COSM3751718(2),0.138179,0.0536,rs11251721,,,,,,chr10,3150898,3150898,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val284Val/c.852C>T|776|PFKP|protein_coding|CODING|NM_001242339.1|11|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val292Val/c.876C>T|784|PFKP|protein_coding|CODING|NM_002627.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.089,0.2075,0.2018,0.19,0.16,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Phe317Phe/c.951C>T,ttC/ttT,LOW,COSM3751720(2),0.370407,0.5099,rs1132173,,,,,,chr10,3150973,3150973,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe309Phe/c.927C>T|776|PFKP|protein_coding|CODING|NM_001242339.1|11|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe317Phe/c.951C>T|784|PFKP|protein_coding|CODING|NM_002627.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3681,0.4006,0.332,0.30,0.26,0.33,,,,,,,,,,,,,,,,
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Ile399Ile/c.1197C>T,atC/atT,LOW,,0.123003,0.0536,rs3816699,,,,,,chr10,3155353,3155353,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile391Ile/c.1173C>T|776|PFKP|protein_coding|CODING|NM_001242339.1|14|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile399Ile/c.1197C>T|784|PFKP|protein_coding|CODING|NM_002627.4|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0685,0.1888,0.162,0.16,0.15,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Ala427Ala/c.1281A>G,gcA/gcG,LOW,COSM3751721(2),0.60623,0.8363,rs1052309,,,,,,chr10,3155620,3155620,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala419Ala/c.1257A>G|776|PFKP|protein_coding|CODING|NM_001242339.1|15|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala427Ala/c.1281A>G|784|PFKP|protein_coding|CODING|NM_002627.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.5749,0.6471,0.57,0.45,0.63,,,,,,,,,,,,,,,,
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Phe453Phe/c.1359C>T,ttC/ttT,LOW,COSM427477(2),0.267572,0.1349,rs4881086,,,,-1.0744(T),,chr10,3155698,3155698,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe445Phe/c.1335C>T|776|PFKP|protein_coding|CODING|NM_001242339.1|15|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe453Phe/c.1359C>T|784|PFKP|protein_coding|CODING|NM_002627.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.319,0.3127,0.2485,0.27,0.28,0.26,,,0.000(P),,0.0000(T),.,-1.056887,5.16,-10.3,-1.844000,-3.323000,-3.262000,0.016000,0.004000,0.000000,12.2192
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Ala598Ala/c.1794C>T,gcC/gcT,LOW,COSM427481(1),0.41234,0.37,rs1052333,,,,-0.9930(T),,chr10,3172121,3172121,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala590Ala/c.1770C>T|776|PFKP|protein_coding|CODING|NM_001242339.1|19|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala598Ala/c.1794C>T|784|PFKP|protein_coding|CODING|NM_002627.4|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4243,0.3761,0.3936,0.39,0.45,0.36,,,0.000(P),,0.0000(T),.,-1.304876,4.49,-8.98,-1.465000,-3.442000,-4.635000,0.011000,0.001000,0.000000,0.6695
synonymous_variant,PFKP,SILENT,NM_002627.4:p.Phe606Phe/c.1818C>T,ttC/ttT,LOW,COSM1347583(2),0.1248,0.0526,rs1052337,,,,,,chr10,3172145,3172145,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe598Phe/c.1794C>T|776|PFKP|protein_coding|CODING|NM_001242339.1|19|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe606Phe/c.1818C>T|784|PFKP|protein_coding|CODING|NM_002627.4|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0821,0.1292,0.16,0.19,0.15,,,,,,,,,,,,,,,,
missense_variant,PITRM1,MISSENSE,NM_001242307.1:p.Gln1038Arg/c.3113A>G,cAa/cGa,MODERATE,COSM4144640(1),0.704273,0.7361,rs6901,1(T),"0.0,0.0(B,B)",,-0.9767(T),,chr10,3180227,3180227,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln1038Arg/c.3113A>G|1038|PITRM1|protein_coding|CODING|NM_001242307.1|27|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln1037Arg/c.3110A>G|1037|PITRM1|protein_coding|CODING|NM_014889.3|27|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln939Arg/c.2816A>G|939|PITRM1|protein_coding|CODING|NM_001242309.1|24|1),downstream_gene_variant(MODIFIER||1230||776|PFKP|protein_coding|CODING|NM_001242339.1||1),downstream_gene_variant(MODIFIER||1230||784|PFKP|protein_coding|CODING|NM_002627.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7188,0.6527,0.7177,0.71,0.72,0.71,,0.000038(N),1.000(P),"3.88,3.88,3.23,3.78(T,T,T,T)",0.0000(T),0.112,-0.503836,5.77,0.73,-0.282000,-0.351000,0.767000,0.000000,0.000000,0.853000,9.6658
missense_variant,PITRM1,MISSENSE,NM_001242307.1:p.Gly1018Ser/c.3052G>A,Ggc/Agc,MODERATE,,0.00898562,0,rs35779348,0.37(T),"0.312,0.629,0.355(B,P,B)",1.905(M),-1.0139(T),,chr10,3180288,3180288,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1018Ser/c.3052G>A|1038|PITRM1|protein_coding|CODING|NM_001242307.1|27|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1017Ser/c.3049G>A|1037|PITRM1|protein_coding|CODING|NM_014889.3|27|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly919Ser/c.2755G>A|939|PITRM1|protein_coding|CODING|NM_001242309.1|24|1),downstream_gene_variant(MODIFIER||1291||776|PFKP|protein_coding|CODING|NM_001242339.1||1),downstream_gene_variant(MODIFIER||1291||784|PFKP|protein_coding|CODING|NM_002627.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0231,0.0268,0.02,0.01,0.03,,0.000007(N),1.000(D),"0.5,0.5,0.5,0.5(T,T,T,T)",0.0727(T),0.261,2.724507,5.83,3.02,-1.075000,0.394000,3.590000,0.000000,0.006000,0.938000,9.9005
synonymous_variant,PITRM1,SILENT,NM_001242307.1:p.Lys1014Lys/c.3042G>A,aaG/aaA,LOW,,0.235623,0.1617,rs10175,,,,,,chr10,3180298,3180298,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1014Lys/c.3042G>A|1038|PITRM1|protein_coding|CODING|NM_001242307.1|27|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1013Lys/c.3039G>A|1037|PITRM1|protein_coding|CODING|NM_014889.3|27|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys915Lys/c.2745G>A|939|PITRM1|protein_coding|CODING|NM_001242309.1|24|1),downstream_gene_variant(MODIFIER||1301||776|PFKP|protein_coding|CODING|NM_001242339.1||1),downstream_gene_variant(MODIFIER||1301||784|PFKP|protein_coding|CODING|NM_002627.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1984,0.3473,0.3121,0.26,0.23,0.27,,,,,,,,,,,,,,,,
synonymous_variant,PITRM1,SILENT,NM_001242307.1:p.Pro767Pro/c.2301G>A,ccG/ccA,LOW,COSM3997953(1),0.545327,0.6865,rs3740607,,,,-0.9512(T),,chr10,3189380,3189380,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro767Pro/c.2301G>A|1038|PITRM1|protein_coding|CODING|NM_001242307.1|20|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro668Pro/c.2004G>A|939|PITRM1|protein_coding|CODING|NM_001242309.1|17|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro766Pro/c.2298G>A|1037|PITRM1|protein_coding|CODING|NM_014889.3|20|1),non_coding_exon_variant(MODIFIER|||n.2635C>T||PITRM1-AS1||NON_CODING|NR_038284.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5532,0.5403,0.5239,0.48,0.47,0.49,,,0.000(P),,0.0000(T),.,-0.873550,5.66,-9.12,-1.077000,-1.269000,-0.493000,0.004000,0.027000,0.360000,1.1031
missense_variant,PITRM1,MISSENSE,NM_001242307.1:p.Val621Ile/c.1861G>A,Gtc/Atc,MODERATE,COSM3997958(1),0.115615,0.0536,rs2388556,0.23(T),"0.177,0.459,0.771,0.771(B,P,P,P)",2.16(M),-1.0976(T),,chr10,3191823,3191823,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val621Ile/c.1861G>A|1038|PITRM1|protein_coding|CODING|NM_001242307.1|16|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val589Ile/c.1765G>A|939|PITRM1|protein_coding|CODING|NM_001242309.1|15|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val621Ile/c.1861G>A|1037|PITRM1|protein_coding|CODING|NM_014889.3|16|1),downstream_gene_variant(MODIFIER||1002|||PITRM1-AS1||NON_CODING|NR_038284.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1299,0.0893,0.1571,0.16,0.13,0.17,,0.000001(D),0.000(P),"1.96,1.96,1.96,2.17(T,T,T,T)",0.0003(T),0.345,4.376667,5.41,4.51,0.555000,1.294000,5.780000,0.973000,0.982000,1.000000,13.8585
missense_variant,PITRM1,MISSENSE,NM_001242307.1:p.Ala397Val/c.1190C>T,gCg/gTg,MODERATE,,0.625998,0.6022,rs3182535,0.29(T),"0.006,0.16,0.032(B,B,B)",,-1.1316(T),,chr10,3200292,3200292,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala397Val/c.1190C>T|1038|PITRM1|protein_coding|CODING|NM_001242307.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala365Val/c.1094C>T|939|PITRM1|protein_coding|CODING|NM_001242309.1|10|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala397Val/c.1190C>T|1037|PITRM1|protein_coding|CODING|NM_014889.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6789,0.5677,0.7097,0.68,0.63,0.71,,0.000155(D),0.000(P),"3.11,3.11,3.11(T,T,T)",0.0000(T),0.24,2.243903,5.58,4.66,0.563000,1.319000,5.411000,0.010000,0.002000,0.999000,13.3929
missense_variant,PITRM1,MISSENSE,NM_001242307.1:p.Ile328Val/c.982A>G,Atc/Gtc,MODERATE,COSM4144651(1),0.620807,0.6032,rs4242746,1(T),"0.001,0.001,0.002(B,B,B)",,-0.9796(T),,chr10,3202065,3202065,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile328Val/c.982A>G|1038|PITRM1|protein_coding|CODING|NM_001242307.1|9|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile296Val/c.886A>G|939|PITRM1|protein_coding|CODING|NM_001242309.1|8|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile328Val/c.982A>G|1037|PITRM1|protein_coding|CODING|NM_014889.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6697,0.5591,0.671,0.69,0.68,0.69,,0.003718(N),0.000(P),"3.3,3.3,3.3(T,T,T)",0.0000(T),0.032,-1.873201,6.17,0.303,-0.119000,-0.060000,0.247000,0.004000,0.049000,0.040000,8.5365
synonymous_variant,PITRM1,SILENT,NM_001242307.1:p.Pro227Pro/c.681T>C,ccT/ccC,LOW,,0.624201,0.6032,rs4609511,,,,,,chr10,3206027,3206027,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro227Pro/c.681T>C|1038|PITRM1|protein_coding|CODING|NM_001242307.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro195Pro/c.585T>C|939|PITRM1|protein_coding|CODING|NM_001242309.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro227Pro/c.681T>C|1037|PITRM1|protein_coding|CODING|NM_014889.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7157,0.5793,0.6988,0.68,0.60,0.72,,,,,,,,,,,,,,,,
missense_variant,PITRM1,MISSENSE,NM_001242307.1:p.Phe169Ser/c.506T>C,tTc/tCc,MODERATE,COSM1741357(2),0.133187,0.0526,rs3814596,0.24(T),"0.146,0.215,0.615,0.734,0.734(B,B,P,P,P)",2.465(M),-1.1450(T),,chr10,3207632,3207632,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe169Ser/c.506T>C|1038|PITRM1|protein_coding|CODING|NM_001242307.1|5|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe137Ser/c.410T>C|939|PITRM1|protein_coding|CODING|NM_001242309.1|4|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe169Ser/c.506T>C|1037|PITRM1|protein_coding|CODING|NM_014889.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1697,0.1066,0.1869,0.18,0.14,0.19,,0.000000(D),0.000(P),"1.69,1.69,1.69(T,T,T)",0.0002(T),0.578,3.501492,5.37,5.37,0.477000,2.037000,8.663000,0.889000,0.829000,1.000000,15.4166
synonymous_variant,PITRM1,SILENT,NM_001242307.1:p.Thr94Thr/c.282T>C,acT/acC,LOW,,0.639577,0.6042,rs12359035,,,,,,chr10,3208557,3208557,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr94Thr/c.282T>C|1038|PITRM1|protein_coding|CODING|NM_001242307.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr62Thr/c.186T>C|939|PITRM1|protein_coding|CODING|NM_001242309.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr94Thr/c.282T>C|1037|PITRM1|protein_coding|CODING|NM_014889.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7188,0.5807,0.7018,0.70,0.65,0.72,,,,,,,,,,,,,,,,
missense_variant,AKR1C2,MISSENSE,NM_001354.5:p.Phe46Tyr/c.137T>A,tTc/tAc,MODERATE,,0.0648962,0.0069,rs2854482,1(T),"0.196,0.069,0.142(B,B,B)",-1.855(N),-0.9587(T),,chr10,5043821,5043821,A,T,het,"missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe46Tyr/c.137T>A|139|AKR1C2|protein_coding|CODING|NM_001135241.2|2|1),missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe46Tyr/c.137T>A|323|AKR1C2|protein_coding|CODING|NM_001354.5|4|1),missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe46Tyr/c.137T>A|323|AKR1C2|protein_coding|CODING|NM_205845.2|3|1)","HUVEC:H3K27me3,HepG2:H3K36me3",,,,0.0235,0.0231,0.0368,0.07,0.14,0.03,,0.005057(N),0.960(P),"1.94,1.94,1.94,1.94(T,T,T,T)",0.0000(T),0.129,-0.882190,2.31,1.08,0.163000,0.283000,1.311000,0.007000,0.010000,1.000000,5.0793
synonymous_variant,AKR1C3,SILENT,NM_001253908.1:p.Pro30Pro/c.90G>A,ccG/ccA,LOW,COSM3751849(1),0.216254,0,rs7741,,,,,,chr10,5138607,5138607,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro30Pro/c.90G>A|323|AKR1C3|protein_coding|CODING|NM_001253908.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro30Pro/c.90G>A|138|AKR1C3|protein_coding|CODING|NM_001253909.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro30Pro/c.90G>A|323|AKR1C3|protein_coding|CODING|NM_003739.5|2|1)","HepG2:H3K4me2,HUVEC:H3K27me3,HepG2:H3K27ac,HepG2:H3K4me3,HepG2:H3K36me3",,,,0.136,0.196,0.3648,0.35,0.34,0.35,,,,,,,,,,,,,,,,
synonymous_variant,AKR1C3,SILENT,NM_001253908.1:p.Lys104Lys/c.312G>A,aaG/aaA,LOW,,0.848243,0.8621,rs12387,,,,,,chr10,5139685,5139685,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys104Lys/c.312G>A|323|AKR1C3|protein_coding|CODING|NM_001253908.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys104Lys/c.312G>A|323|AKR1C3|protein_coding|CODING|NM_003739.5|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys104Lys/c.312G>A|138|AKR1C3|protein_coding|CODING|NM_001253909.1|3|1)","HMEC:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8241,0.8084,0.8519,0.84,0.87,0.83,,,,,,,,,,,,,,,,
missense_variant,AKR1C4,MISSENSE,NM_001818.3:p.Gln250Arg/c.749A>G,cAa/cGa,MODERATE,,0.9998,1,rs4880718,0.72(T),0.001(B),-2.135(N),-1.0243(T),,chr10,5255025,5255025,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln250Arg/c.749A>G|323|AKR1C4|protein_coding|CODING|NM_001818.3|7|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,1,1,1,,,,,0.362246(N),1.000(P),"1.93,1.93(T,T)",0.0000(T),0.069,-2.358146,3.3,-1.26,-1.967000,-1.477000,0.242000,0.004000,0.000000,0.000000,5.004
synonymous_variant,NET1,SILENT,NM_001047160.2:p.Tyr200Tyr/c.600T>C,taT/taC,LOW,,0.976637,1,rs4567355,,,,,,chr10,5495218,5495218,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr200Tyr/c.600T>C|596|NET1|protein_coding|CODING|NM_001047160.2|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr146Tyr/c.438T>C|542|NET1|protein_coding|CODING|NM_005863.4|5|1),non_coding_exon_variant(MODIFIER|||n.686T>C||NET1||CODING|NR_073040.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,0.9986,0.999,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,CALML5,MISSENSE,NM_017422.4:p.Lys74Arg/c.221A>G,aAg/aGg,MODERATE,COSM146869(4),0.353235,0.3046,rs10904516,0.02(D),0.149(B),0.085(N),-0.9277(T),,chr10,5541181,5541181,T,C,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys74Arg/c.221A>G|146|CALML5|protein_coding|CODING|NM_017422.4|1|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3057,0.2334,0.3221,0.08,0.12,0.05,,0.596195(N),1.000(P),1.17(T),0.0000(T),0.041,-0.192375,0.893,-1.79,-1.407000,-1.160000,0.459000,0.000000,0.000000,0.033000,4.0258
synonymous_variant,CALML5,SILENT,NM_017422.4:p.Ala73Ala/c.219G>A,gcG/gcA,LOW,COSM1561299(1),0.355431,0.3065,rs10904517,,,,,,chr10,5541183,5541183,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala73Ala/c.219G>A|146|CALML5|protein_coding|CODING|NM_017422.4|1|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3057,0.2334,0.3231,0.06,0.09,0.04,,,,,,,,,,,,,,,,
missense_variant,CALML5,MISSENSE,NM_017422.4:p.Ser58Gly/c.172A>G,Agc/Ggc,MODERATE,COSM3773538(1),0.296925,0.2014,rs11546426,0(D),0.008(B),0.945(L),-0.9904(T),,chr10,5541230,5541230,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser58Gly/c.172A>G|146|CALML5|protein_coding|CODING|NM_017422.4|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2485,0.2133,0.2972,0.34,0.41,0.30,,0.827796(N),1.000(P),-0.66(T),0.0000(T),0.021,2.509974,4.6,0.628,-0.408000,-0.000000,0.567000,0.000000,0.001000,0.649000,3.7075
missense_variant,FAM208B,MISSENSE,NM_017782.4:p.Cys499Gly/c.1495T>G,Tgt/Ggt,MODERATE,,0.83746,0.8135,rs2254067,1(T),0.0(B),-1.845(N),-1.0235(T),,chr10,5781628,5781628,T,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys499Gly/c.1495T>G|2430|FAM208B|protein_coding|CODING|NM_017782.4|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7607,0.8804,0.8419,0.84,0.87,0.83,,0.334341(N),1.000(P),-4.37(D),0.0000(T),0.106,-2.785360,5.72,2.38,-1.084000,0.344000,0.326000,0.008000,0.009000,0.000000,6.3808
synonymous_variant,FAM208B,SILENT,NM_017782.4:p.Thr612Thr/c.1836A>T,acA/acT,LOW,,0.837061,0.8135,rs2797486,,,,,,chr10,5781969,5781969,A,T,hom,synonymous_variant(LOW|SILENT|acA/acT|p.Thr612Thr/c.1836A>T|2430|FAM208B|protein_coding|CODING|NM_017782.4|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7597,0.8804,0.841,0.84,0.87,0.83,,,,,,,,,,,,,,,,
missense_variant,FAM208B,MISSENSE,NM_017782.4:p.Arg1075Pro/c.3224G>C,cGt/cCt,MODERATE,,0.836062,0.8135,rs2797491,1(T),0.0(B),-1.65(N),-1.0097(T),,chr10,5788608,5788608,G,C,hom,missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg1075Pro/c.3224G>C|2430|FAM208B|protein_coding|CODING|NM_017782.4|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7587,0.8761,0.839,0.84,0.87,0.83,,0.120899(N),1.000(P),2.53(T),0.0000(T),0.053,-2.556583,5.46,3.26,-0.120000,0.675000,0.385000,0.019000,0.001000,0.000000,6.0678
missense_variant,FAM208B,MISSENSE,NM_017782.4:p.Val1679Ala/c.5036T>C,gTg/gCg,MODERATE,,0.977436,1,rs2669142,0.37(T),0.0(B),0(N),-1.0603(T),,chr10,5790420,5790420,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1679Ala/c.5036T>C|2430|FAM208B|protein_coding|CODING|NM_017782.4|15|1),"H1ESC:H3K36me3,HepG2:p300,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:FOXA1,HepG2:DNase1,GM06990:H3K36me3",,,,0.9847,0.9798,0.9851,0.98,0.95,0.99,,0.932487(N),1.000(P),3.72(T),0.0000(T),0.032,0.675403,5.05,-3.28,-2.342000,-0.626000,-0.382000,0.000000,0.000000,0.000000,0.4239
missense_variant,FAM208B,MISSENSE,NM_017782.4:p.Ser2404Asn/c.7211G>A,aGt/aAt,MODERATE,,0.854034,0.8204,rs2797501,1(T),0.017(B),0.145(N),-0.9887(T),,chr10,5804531,5804531,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2404Asn/c.7211G>A|2430|FAM208B|protein_coding|CODING|NM_017782.4|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:FOXA2,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:FOXA1,GM06990:H3K36me3",Osteosarcoma,,,0.8067,0.9063,0.8718,0.86,0.86,0.86,,0.040272(N),1.000(P),3.75(T),0.0000(T),0.018,0.805600,6.01,-0.384,-0.145000,-0.078000,0.198000,0.982000,0.986000,0.986000,6.0464
missense_variant,ANKRD16,MISSENSE,NM_001009941.2:p.Gln353Arg/c.1058A>G,cAg/cGg,MODERATE,,0.803914,0.8472,rs1052420,0.23(T),0.002(B),0.205(N),-1.0141(T),,chr10,5920121,5920121,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln353Arg/c.1058A>G|361|ANKRD16|protein_coding|CODING|NM_001009941.2|7|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln353Arg/c.1058A>G|361|ANKRD16|protein_coding|CODING|NM_019046.2|7|1),3_prime_UTR_variant(MODIFIER||64|c.*64A>G|304|ANKRD16|protein_coding|CODING|NM_001009943.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7802,0.9135,0.8638,0.82,0.72,0.88,,0.166055(N),0.000(P),"-0.13,-0.13(T,T)",0.0000(T),0.054,1.415149,4.97,3.83,0.254000,0.731000,-0.027000,0.658000,0.990000,0.882000,9.631
synonymous_variant,ANKRD16,SILENT,NM_001009941.2:p.Gly216Gly/c.648G>T,ggG/ggT,LOW,COSM427709(1),0.922524,0.9504,rs631947,,,,,,chr10,5925971,5925971,C,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly216Gly/c.648G>T|361|ANKRD16|protein_coding|CODING|NM_001009941.2|4|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly216Gly/c.648G>T|304|ANKRD16|protein_coding|CODING|NM_001009943.2|4|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly216Gly/c.648G>T|361|ANKRD16|protein_coding|CODING|NM_019046.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8793,0.9424,0.8837,0.92,0.95,0.90,,,,,,,,,,,,,,,,
missense_variant,IL15RA,MISSENSE,NM_001256765.1:p.Asn268Thr/c.803A>C,aAc/aCc,MODERATE,COSM3998039(1),0.550519,0.4266,rs2228059,1(T),"0.0,0.0,0.001(B,B,B)",-1.355(N),-1.0015(T),,chr10,6002368,6002368,T,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn146Thr/c.437A>C|231|IL15RA|protein_coding|CODING|NM_001243539.1|4|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn268Thr/c.803A>C|353|IL15RA|protein_coding|CODING|NM_001256765.1|5|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn182Thr/c.545A>C|267|IL15RA|protein_coding|CODING|NM_002189.3|4|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn149Thr/c.446A>C|234|IL15RA|protein_coding|CODING|NM_172200.2|3|1),non_coding_exon_variant(MODIFIER|||n.574A>C||IL15RA||CODING|NR_046362.1|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:DNase1",,,,0.5327,0.4928,0.4632,0.57,0.72,0.49,,0.699439(N),1.000(P),"1.58,1.58,1.58,1.58,1.58,1.12,2.11,1.58,2.34,1.58(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.125,-2.573351,4.08,1.13,-0.217000,-0.084000,0.097000,0.001000,0.001000,0.009000,3.5341
synonymous_variant,RBM17,SILENT,NM_001145547.1:p.Ala239Ala/c.717G>A,gcG/gcA,LOW,,0.00139776,0,rs148263630,,,,-0.9464(T),,chr10,6154185,6154185,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala239Ala/c.717G>A|401|RBM17|protein_coding|CODING|NM_001145547.1|8|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala239Ala/c.717G>A|401|RBM17|protein_coding|CODING|NM_032905.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0,0.001,0.00,0.00,0.00,,,1.000(D),,0.0768(T),.,-0.674345,5.41,-10.8,-0.253000,-1.543000,-0.492000,0.018000,0.737000,0.117000,0.4896
synonymous_variant,PRKCQ,SILENT,NM_006257.4:p.Arg616Arg/c.1846C>A,Cga/Aga,LOW,,0.122604,0.0308,rs11258747,,,,,,chr10,6472891,6472891,G,T,het,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg553Arg/c.1657C>A|643|PRKCQ|protein_coding|CODING|NM_001242413.2|16|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg580Arg/c.1738C>A|670|PRKCQ|protein_coding|CODING|NM_001282644.1|17|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg491Arg/c.1471C>A|581|PRKCQ|protein_coding|CODING|NM_001282645.1|16|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg616Arg/c.1846C>A|706|PRKCQ|protein_coding|CODING|NM_006257.4|17|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",Type_1_diabetes,,,0.1196,0.1124,0.2187,0.19,0.14,0.22,,,0.000(P),,,.,0.943677,5.23,1.63,0.650000,0.027000,1.036000,0.846000,0.975000,1.000000,7.4448
synonymous_variant,PRKCQ,SILENT,NM_006257.4:p.Ile520Ile/c.1560C>T,atC/atT,LOW,COSM3751895(1),0.141374,0.0645,rs11258943,,,,-1.0618(T),,chr10,6498723,6498723,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile520Ile/c.1560C>T|643|PRKCQ|protein_coding|CODING|NM_001242413.2|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile484Ile/c.1452C>T|670|PRKCQ|protein_coding|CODING|NM_001282644.1|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile395Ile/c.1185C>T|581|PRKCQ|protein_coding|CODING|NM_001282645.1|14|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile520Ile/c.1560C>T|706|PRKCQ|protein_coding|CODING|NM_006257.4|15|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.1411,0.1153,0.2187,0.20,0.16,0.22,,,0.000(P),,0.0001(T),.,-1.352505,5.55,-9.67,-2.811000,-2.746000,-1.264000,0.001000,0.026000,0.012000,12.5145
synonymous_variant,SFMBT2,SILENT,NM_001018039.1:p.Asp336Asp/c.1008T>C,gaT/gaC,LOW,,0.902356,0.9097,rs2248474,,,,,,chr10,7285632,7285632,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp336Asp/c.1008T>C|894|SFMBT2|protein_coding|CODING|NM_001018039.1|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp336Asp/c.1008T>C|894|SFMBT2|protein_coding|CODING|NM_001029880.2|9|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8579,0.9582,0.9165,0.90,0.89,0.91,,,,,,,,,,,,,,,,
missense_variant,ITIH5,MISSENSE,NM_030569.6:p.Arg936Gln/c.2807G>A,cGg/cAg,MODERATE,COSM3998092(1),0.571685,0.5179,rs3824658,0.44(T),,,-1.0455(T),,chr10,7605067,7605067,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg936Gln/c.2807G>A|942|ITIH5|protein_coding|CODING|NM_030569.6|15|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg722Gln/c.2165G>A|728|ITIH5|protein_coding|CODING|NM_032817.5|11|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.6104,0.6225,0.7694,0.66,0.46,0.77,,,1.000(P),4.64(T),0.0000(T),0.025,1.276540,4.72,-6.94,-1.036000,-1.075000,-1.061000,0.017000,0.000000,0.000000,2.0444
missense_variant,ITIH5,MISSENSE,NM_030569.6:p.Phe925Ser/c.2774T>C,tTc/tCc,MODERATE,,0.966653,1,rs10795551,0.85(T),"0.0,0.0(B,B)",,-0.9300(T),,chr10,7605101,7605101,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe925Ser/c.2774T>C|942|ITIH5|protein_coding|CODING|NM_030569.6|14|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe711Ser/c.2132T>C|728|ITIH5|protein_coding|CODING|NM_032817.5|10|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,1,0.9856,0.997,0.97,0.91,1.00,,0.000405(N),0.000(P),"5.11,4.86,4.89(T,T,T)",0.0000(T),0.228,-0.500370,5.79,4.88,-0.128000,1.466000,3.775000,0.145000,0.645000,0.778000,12.1934
synonymous_variant,ITIH5,SILENT,NM_030569.6:p.Gly553Gly/c.1659G>C,ggG/ggC,LOW,,,,,,,,,,chr10,7618735,7618735,C,G,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly553Gly/c.1659G>C|702|ITIH5|protein_coding|CODING|NM_001001851.2|10|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly553Gly/c.1659G>C|942|ITIH5|protein_coding|CODING|NM_030569.6|10|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly339Gly/c.1017G>C|728|ITIH5|protein_coding|CODING|NM_032817.5|6|1)",HepG2:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ITIH5,SILENT,NM_030569.6:p.Lys150Lys/c.450G>A,aaG/aaA,LOW,COSM3751977(1),0.448882,0.4623,rs6602256,,,,,,chr10,7679393,7679393,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys150Lys/c.450G>A|702|ITIH5|protein_coding|CODING|NM_001001851.2|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys150Lys/c.450G>A|942|ITIH5|protein_coding|CODING|NM_030569.6|5|1)","K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.5194,0.2233,0.3121,0.40,0.57,0.31,,,,,,,,,,,,,,,,
synonymous_variant,ITIH2,SILENT,NM_002216.2:p.Ser158Ser/c.474C>T,agC/agT,LOW,COSM146877(1),0.207069,0.2202,rs7072478,,,,,,chr10,7759595,7759595,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser158Ser/c.474C>T|946|ITIH2|protein_coding|CODING|NM_002216.2|6|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1616,0.2781,0.172,0.17,0.23,0.14,,,,,,,,,,,,,,,,
missense_variant,ITIH2,MISSENSE,NM_002216.2:p.Asn263Ser/c.788A>G,aAc/aGc,MODERATE,,0.991214,1,rs7075296,0.27(T),0.014(B),0.695(N),-1.0056(T),,chr10,7763661,7763661,A,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn263Ser/c.788A>G|946|ITIH2|protein_coding|CODING|NM_002216.2|8|1),"GM06990:H3K27me3,GM12878:H3K36me3,HepG2:PolII,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,1,0.9971,0.999,0.99,0.97,1.00,,0.000564(N),0.999(P),"-1.13,-1.13(T,T)",0.0000(T),0.02,0.454493,5.29,-3.6,-2.491000,-0.527000,-0.268000,0.037000,0.103000,0.054000,8.7052
missense_variant,TAF3,MISSENSE,NM_031923.3:p.Ser349Thr/c.1046G>C,aGt/aCt,MODERATE,,0.0155751,0.001,rs17366712,0.56(T),0.024(B),2.32(M),-1.0867(T),,chr10,8006519,8006519,G,C,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser349Thr/c.1046G>C|929|TAF3|protein_coding|CODING|NM_031923.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0375,0.0258,0.03,0.01,0.04,,0.000743(D),0.954(D),2.02(T),0.0132(T),0.053,-0.098780,5.4,3.5,0.650000,0.617000,3.189000,0.008000,0.086000,1.000000,9.8255
missense_variant,TAF3,MISSENSE,NM_031923.3:p.Asn442Ser/c.1325A>G,aAt/aGt,MODERATE,COSM427970(1),0.542133,0.7103,rs4747647,0.76(T),0.003(B),1.225(L),-0.9809(T),,chr10,8006798,8006798,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn442Ser/c.1325A>G|929|TAF3|protein_coding|CODING|NM_031923.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5286,0.7349,0.6203,0.53,0.36,0.61,,0.021521(N),1.000(P),2.27(T),0.0000(T),0.004,-0.333541,5.47,1.74,0.528000,0.358000,-0.160000,0.438000,0.107000,0.000000,6.7744
missense_variant,TAF3,MISSENSE,NM_031923.3:p.Val696Leu/c.2086G>C,Gtg/Ctg,MODERATE,,0.577276,0.7183,rs10795583,0.28(T),0.0(B),0(N),-1.0239(T),,chr10,8007559,8007559,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val696Leu/c.2086G>C|929|TAF3|protein_coding|CODING|NM_031923.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.7651,0.6372,0.55,0.40,0.62,,0.000004(D),1.000(P),3.08(T),0.0000(T),0.023,1.420748,5.83,5.83,-0.120000,1.496000,4.668000,0.679000,0.087000,0.993000,16.8339
missense_variant,TAF3,MISSENSE,NM_031923.3:p.Val696Ala/c.2087T>C,gTg/gCg,MODERATE,,0.690895,0.7272,rs1244229,0.68(T),0.0(B),0(N),-1.0675(T),,chr10,8007560,8007560,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val696Ala/c.2087T>C|929|TAF3|protein_coding|CODING|NM_031923.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7198,0.8026,0.7376,0.68,0.60,0.71,,0.000004(D),1.000(P),3.16(T),0.0000(T),0.027,0.424197,5.83,5.83,-0.119000,1.497000,2.350000,0.683000,0.091000,0.972000,14.8553
synonymous_variant,CELF2,SILENT,NM_006561.3:p.Val146Val/c.438A>T,gtA/gtT,LOW,COSM1345795(1),0.78115,0.8611,rs2277212,,,,,,chr10,11299735,11299735,A,T,het,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val115Val/c.345A>T|490|CELF2|protein_coding|CODING|NM_001025076.2|5|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val139Val/c.417A>T|508|CELF2|protein_coding|CODING|NM_001025077.2|5|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val115Val/c.345A>T|488|CELF2|protein_coding|CODING|NM_001083591.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val146Val/c.438A>T|521|CELF2|protein_coding|CODING|NM_006561.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8415,0.7493,0.7247,0.74,0.74,0.74,,,,,,,,,,,,,,,,
synonymous_variant,USP6NL,SILENT,NM_001080491.3:p.Pro601Pro/c.1803T>C,ccT/ccC,LOW,COSM3751529(3),0.499401,0.7351,rs3740204,,,,,,chr10,11505175,11505175,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro601Pro/c.1803T>C|845|USP6NL|protein_coding|CODING|NM_001080491.3|14|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro584Pro/c.1752T>C|828|USP6NL|protein_coding|CODING|NM_014688.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4939,0.2997,0.3042,0.38,0.51,0.31,,,,,,,,,,,,,,,,
missense_variant,ECHDC3,MISSENSE,NM_024693.4:p.Ala69Thr/c.205G>A,Gcg/Acg,MODERATE,,0.913538,1,rs4750090,0.06(T),0.846(P),3.06(M),-1.0247(T),,chr10,11789382,11789382,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala69Thr/c.205G>A|303|ECHDC3|protein_coding|CODING|NM_024693.4|2|1),"HMEC:DNase1,HepG2:H3K27me3",,,,0.999,0.9741,0.997,0.91,0.74,1.00,,0.000000(D),0.000(P),"-0.51,0.44(T,T)",0.0000(T),0.785,5.175724,5.53,5.53,0.561000,2.596000,6.391000,0.671000,0.808000,1.000000,18.4332
synonymous_variant,ECHDC3,SILENT,NM_024693.4:p.Lys76Lys/c.228G>A,aaG/aaA,LOW,,0.922324,1,rs4750091,,,,,,chr10,11789405,11789405,G,A,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys76Lys/c.228G>A|303|ECHDC3|protein_coding|CODING|NM_024693.4|2|1),"HMEC:DNase1,HepG2:H3K27me3",,,,0.999,0.9769,0.998,0.92,0.78,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ECHDC3,SILENT,NM_024693.4:p.Val140Val/c.420T>C,gtT/gtC,LOW,,0.93131,1,rs7899215,,,,,,chr10,11797436,11797436,T,C,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val140Val/c.420T>C|303|ECHDC3|protein_coding|CODING|NM_024693.4|4|1),"K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.999,0.9813,0.998,0.94,0.81,1.00,,,,,,,,,,,,,,,,
missense_variant,ECHDC3,MISSENSE,NM_024693.4:p.Ala151Thr/c.451G>A,Gcg/Acg,MODERATE,,0.915935,1,rs7910140,1(T),0.023(B),-0.95(N),-0.9330(T),,chr10,11797467,11797467,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala151Thr/c.451G>A|303|ECHDC3|protein_coding|CODING|NM_024693.4|4|1),"K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.999,0.9755,0.997,0.91,0.74,1.00,,0.000000(N),0.775(P),"-0.3,0.94,-0.3(T,T,T)",0.0000(T),0.359,0.400835,5.31,4.16,-0.332000,0.314000,5.108000,0.548000,0.936000,1.000000,6.7817
missense_variant,ECHDC3,MISSENSE,NM_024693.4:p.Asp162Asn/c.484G>A,Gac/Aac,MODERATE,,0.0419329,0.001,rs35986488,0(D),1.0(D),4.39(H),-0.0316(T),,chr10,11797500,11797500,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp162Asn/c.484G>A|303|ECHDC3|protein_coding|CODING|NM_024693.4|4|1),"K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0481,0.0331,0.0875,0.07,0.05,0.08,,0.000000(D),1.000(D),"1.03,0.1,-1.03(T,T,T)",0.1925(T),0.297,5.667768,5.31,5.31,0.591000,2.478000,9.593000,0.975000,0.999000,1.000000,17.9543
synonymous_variant,ECHDC3,SILENT,NM_024693.4:p.Ile236Ile/c.708C>T,atC/atT,LOW,,0.197085,0.3075,rs17850531,,,,,,chr10,11805339,11805339,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile236Ile/c.708C>T|303|ECHDC3|protein_coding|CODING|NM_024693.4|5|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.2761,0.2435,0.2107,0.16,0.05,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ECHDC3,SILENT,NM_024693.4:p.Ala241Ala/c.723A>G,gcA/gcG,LOW,COSM3747134(2),0.515176,0.5377,rs12258196,,,,,,chr10,11805354,11805354,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala241Ala/c.723A>G|303|ECHDC3|protein_coding|CODING|NM_024693.4|5|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.6022,0.5072,0.5875,0.54,0.44,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ECHDC3,SILENT,NM_024693.4:p.Ser242Ser/c.726G>A,tcG/tcA,LOW,COSM3747135(2),0.515775,0.5377,rs10906011,,,,,,chr10,11805357,11805357,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser242Ser/c.726G>A|303|ECHDC3|protein_coding|CODING|NM_024693.4|5|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.6022,0.5072,0.5875,0.54,0.44,0.60,,,,,,,,,,,,,,,,
missense_variant,PROSER2,MISSENSE,NM_153256.3:p.Gly223Arg/c.667G>A,Ggg/Agg,MODERATE,,0.0497204,0,rs117789748,0(D),0.906(P),1.32(L),-1.1093(T),,chr10,11911764,11911764,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly223Arg/c.667G>A|435|PROSER2|protein_coding|CODING|NM_153256.3|4|1),intron_variant(MODIFIER|||n.637-264C>T||PROSER2-AS1||NON_CODING|NR_038222.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.093,0.072,0.1024,0.08,0.02,0.11,,0.052942(N),1.000(P),"3.07,3.07(T,T)",0.0009(T),0.075,1.542229,5.02,3.99,0.305000,2.308000,2.643000,0.010000,0.011000,0.142000,7.4733
synonymous_variant,PROSER2,SILENT,NM_153256.3:p.Thr377Thr/c.1131G>A,acG/acA,LOW,COSM3747136(1),0.0543131,0,rs74657303,,,,,,chr10,11912228,11912228,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr377Thr/c.1131G>A|435|PROSER2|protein_coding|CODING|NM_153256.3|4|1),intron_variant(MODIFIER|||n.637-728C>T||PROSER2-AS1||NON_CODING|NR_038222.1|2|1)","HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.0849,0.0821,0.1233,0.07,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,UPF2,MISSENSE,NM_015542.3:p.Asn496Ser/c.1487A>G,aAc/aGc,MODERATE,COSM3751555(1),0.0543131,0,rs7079388,0.81(T),"0.001,0.0(B,B)",0(N),-1.0126(T),,chr10,12046546,12046546,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn496Ser/c.1487A>G|1272|UPF2|protein_coding|CODING|NM_015542.3|5|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn496Ser/c.1487A>G|1272|UPF2|protein_coding|CODING|NM_080599.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1063,0.0461,0.1312,0.09,0.03,0.13,,0.078513(N),0.460(P),"1.29,1.29,1.29(T,T,T)",0.0003(T),0.02,-0.184556,5.06,2.65,0.460000,0.248000,0.001000,0.953000,0.997000,0.949000,7.2739
missense_variant,DHTKD1,MISSENSE,NM_018706.6:p.Phe20Leu/c.58T>C,Ttc/Ctc,MODERATE,COSM4144373(2),0.970248,1,rs1279138,0.38(T),0.0(B),-0.895(N),-1.0526(T),,chr10,12111090,12111090,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe20Leu/c.58T>C|919|DHTKD1|protein_coding|CODING|NM_018706.6|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:SP1,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,K562:E2F6,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,1,0.9928,1,0.97,0.91,1.00,,0.012595(N),1.000(P),"3.69,2.43(T,T)",0.0000(T),0.377,-0.338458,3.97,-0.0878,-2.843000,-0.905000,-1.173000,0.011000,0.000000,0.000000,4.2774
missense_variant,DHTKD1,MISSENSE,NM_018706.6:p.Tyr272Asp/c.814T>G,Tac/Gac,MODERATE,COSM3751560(1),0.484425,0.4812,rs3740015,0.42(T),0.0(B),-1.74(N),-0.9092(T),,chr10,12131081,12131081,T,G,het,missense_variant(MODERATE|MISSENSE|Tac/Gac|p.Tyr272Asp/c.814T>G|919|DHTKD1|protein_coding|CODING|NM_018706.6|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7648,0.4669,0.5915,0.48,0.27,0.59,,0.000000(N),0.180(P),"-3.83,2.35(D,T)",0.0000(T),0.442,-0.388009,5.1,4.19,-0.215000,0.554000,6.649000,0.483000,0.999000,1.000000,12.1561
synonymous_variant,DHTKD1,SILENT,NM_018706.6:p.Asn317Asn/c.951C>T,aaC/aaT,LOW,COSM146878(1),0.0509185,0.0179,rs3740016,,,,,,chr10,12131218,12131218,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn317Asn/c.951C>T|919|DHTKD1|protein_coding|CODING|NM_018706.6|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.0504,0.1133,0.09,0.03,0.12,,,,,,,,,,,,,,,,
missense_variant,DHTKD1,MISSENSE,NM_018706.6:p.Ile607Met/c.1821C>G,atC/atG,MODERATE,COSM3751561(2),0.724042,0.7054,rs2062988,0.22(T),0.001(B),-1.3(N),-1.0439(T),,chr10,12143105,12143105,C,G,hom,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile607Met/c.1821C>G|919|DHTKD1|protein_coding|CODING|NM_018706.6|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9008,0.6873,0.8191,0.74,0.60,0.81,,0.000000(N),0.608(P),-2.85(D),0.0000(T),0.353,0.860296,5.48,5.48,-0.120000,1.336000,7.152000,0.974000,0.998000,1.000000,14.8575
synonymous_variant,DHTKD1,SILENT,NM_018706.6:p.Pro637Pro/c.1911A>C,ccA/ccC,LOW,,0.954073,1,rs1701472,,,,,,chr10,12148259,12148259,A,C,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro637Pro/c.1911A>C|919|DHTKD1|protein_coding|CODING|NM_018706.6|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,0.999,0.95,0.85,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DHTKD1,SILENT,NM_018706.6:p.Phe646Phe/c.1938T>C,ttT/ttC,LOW,,0.964058,1,rs1615510,,,,,,chr10,12148286,12148286,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe646Phe/c.1938T>C|919|DHTKD1|protein_coding|CODING|NM_018706.6|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DHTKD1,SILENT,NM_018706.6:p.Ile693Ile/c.2079C>T,atC/atT,LOW,,0.903155,0.9821,rs1722462,,,,,,chr10,12149939,12149939,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile693Ile/c.2079C>T|919|DHTKD1|protein_coding|CODING|NM_018706.6|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9325,0.938,0.9006,0.86,0.81,0.89,,,,,,,,,,,,,,,,
synonymous_variant,NUDT5,SILENT,NM_014142.2:p.Ala203Ala/c.609A>G,gcA/gcG,LOW,COSM3751571(2),0.46226,0.5575,rs6686,,,,,,chr10,12209752,12209752,T,C,het,"splice_region_variant(LOW|||n.1392T>C||SEC61A2||CODING|NR_024576.1|12|1),splice_region_variant(LOW|||n.1525T>C||SEC61A2||CODING|NR_024577.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala203Ala/c.609A>G|219|NUDT5|protein_coding|CODING|NM_014142.2|10|1),intron_variant(MODIFIER|||c.1245-1505T>C|437|SEC61A2|protein_coding|CODING|NM_001142627.1|11|1),non_coding_exon_variant(MODIFIER|||n.1392T>C||SEC61A2||CODING|NR_024576.1|12|1),non_coding_exon_variant(MODIFIER|||n.1525T>C||SEC61A2||CODING|NR_024577.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3497,0.5245,0.4821,0.48,0.45,0.50,,,,,,,,,,,,,,,,
synonymous_variant,CAMK1D,SILENT,NM_153498.2:p.Val316Val/c.948C>G,gtC/gtG,LOW,,0.773962,0.8542,rs1757051,,,,,,chr10,12867598,12867598,C,G,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val316Val/c.948C>G|385|CAMK1D|protein_coding|CODING|NM_153498.2|10|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val316Val/c.948C>G|357|CAMK1D|protein_coding|CODING|NM_020397.2|10|1)","IMR90:DNase1,CD4:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8395,0.7219,0.7634,0.74,0.71,0.75,,,,,,,,,,,,,,,,
synonymous_variant,CCDC3,SILENT,NM_031455.3:p.Asn258Asn/c.774T>C,aaT/aaC,LOW,COSM4144471(1),0.991414,1,rs10906249,,,,,,chr10,12940455,12940455,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn133Asn/c.399T>C|145|CCDC3|protein_coding|CODING|NM_001282658.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn258Asn/c.774T>C|270|CCDC3|protein_coding|CODING|NM_031455.3|3|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,OPTN,MISSENSE,NM_001008211.1:p.Lys322Glu/c.964A>G,Aaa/Gaa,MODERATE,,0.993411,1,rs523747,1(T),"0.0,0.0(B,B)",-1.445(N),-0.9290(T),,chr10,13166076,13166076,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys322Glu/c.964A>G|577|OPTN|protein_coding|CODING|NM_001008211.1|10|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys322Glu/c.964A>G|577|OPTN|protein_coding|CODING|NM_001008212.1|9|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys322Glu/c.964A>G|577|OPTN|protein_coding|CODING|NM_001008213.1|10|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys322Glu/c.964A>G|577|OPTN|protein_coding|CODING|NM_021980.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.999,0.99,0.97,1.00,,0.000004(N),1.000(P),"-1.92,-1.92,-1.92,-1.92,-1.92,-1.92(D,D,D,D,D,D)",0.0000(T),0.196,0.180748,6.17,6.17,-0.119000,1.644000,6.047000,0.281000,0.999000,1.000000,14.7871
missense_variant,MCM10,MISSENSE,NM_182751.2:p.Ala195Pro/c.583G>C,Gct/Cct,MODERATE,,0.0411342,0.0149,rs34630110,0.3(T),"0.001,0.001,0.0(B,B,B)",0.69(N),-0.9510(T),,chr10,13214753,13214753,G,C,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala195Pro/c.583G>C|875|MCM10|protein_coding|CODING|NM_182751.2|5|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala194Pro/c.580G>C|874|MCM10|protein_coding|CODING|NM_018518.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0215,0.0447,0.1163,0.09,0.04,0.12,,0.982792(N),1.000(P),"2.5,2.5,2.5(T,T,T)",0.0003(T),0.032,1.317398,5.23,-6.07,-0.175000,-1.167000,-1.322000,0.021000,0.000000,0.000000,7.3141
synonymous_variant,MCM10,SILENT,NM_182751.2:p.Ser424Ser/c.1272C>T,agC/agT,LOW,COSM3751621(1),0.0409345,0,rs386423131,,,,,,chr10,13230934,13230934,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser423Ser/c.1269C>T|874|MCM10|protein_coding|CODING|NM_018518.4|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser424Ser/c.1272C>T|875|MCM10|protein_coding|CODING|NM_182751.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0576,0.1421,0.11,0.03,0.14,,,,,,,,,,,,,,,,
missense_variant,MCM10,MISSENSE,NM_182751.2:p.Thr541Ser/c.1621A>T,Aca/Tca,MODERATE,COSM3751622(1),0.0640974,0.0139,rs7905784,0.75(T),"0.006,0.003,0.005(B,B,B)",-0.345(N),-0.9722(T),,chr10,13234356,13234356,A,T,het,"missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr540Ser/c.1618A>T|874|MCM10|protein_coding|CODING|NM_018518.4|12|1),missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr541Ser/c.1621A>T|875|MCM10|protein_coding|CODING|NM_182751.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0276,0.0648,0.1431,0.13,0.09,0.15,,0.828350(N),1.000(P),"1.6,1.6,1.6(T,T,T)",0.0002(T),0.02,-1.465822,5.52,4.38,-0.345000,0.912000,2.074000,0.006000,0.061000,0.205000,3.0826
missense_variant,MCM10,MISSENSE,NM_182751.2:p.Lys669Arg/c.2006A>G,aAa/aGa,MODERATE,COSM146882(1),0.109225,0.1002,rs2274110,0.16(T),"0.824,0.766,0.85(P,P,P)",1.84(L),-1.1405(T),,chr10,13239651,13239651,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys668Arg/c.2003A>G|874|MCM10|protein_coding|CODING|NM_018518.4|15|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys669Arg/c.2006A>G|875|MCM10|protein_coding|CODING|NM_182751.2|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1431,0.134,0.1948,0.14,0.04,0.19,,0.000000(D),0.000(P),"2.2,2.2,2.19(T,T,T)",0.0002(T),0.152,4.704765,5.33,5.33,0.533000,2.145000,7.021000,0.962000,1.000000,1.000000,15.6241
synonymous_variant,UCMA,SILENT,NM_145314.1:p.Arg69Arg/c.205A>C,Aga/Cga,LOW,,0.803714,0.8393,rs3829925,,,,,,chr10,13275553,13275553,T,G,hom,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg69Arg/c.205A>C|138|UCMA|protein_coding|CODING|NM_145314.1|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7065,0.9193,0.8946,0.86,0.77,0.91,,,,,,,,,,,,,,,,
synonymous_variant,PHYH,SILENT,NM_006214.3:p.Thr212Thr/c.636A>G,acA/acG,LOW,,0.239018,0.124,rs473407,,,,,,chr10,13330402,13330402,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr112Thr/c.336A>G|238|PHYH|protein_coding|CODING|NM_001037537.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr212Thr/c.636A>G|338|PHYH|protein_coding|CODING|NM_006214.3|6|1)","GM12878:BATF,CD4:H3K4me3,IMR90:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,RCV000081366.3,,0.1585,0.1686,0.2286,0.30,0.39,0.25,,,,,,,,,,,,,,,,
synonymous_variant,PHYH,SILENT,NM_006214.3:p.Asn51Asn/c.153C>T,aaC/aaT,LOW,,0.972444,1,rs1747682,,,,,,chr10,13337588,13337588,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn51Asn/c.153C>T|338|PHYH|protein_coding|CODING|NM_006214.3|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||238|PHYH|protein_coding|CODING|NM_001037537.1|2|1),5_prime_UTR_variant(MODIFIER||1047|c.-148C>T|238|PHYH|protein_coding|CODING|NM_001037537.1|2|1)","HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,RCV000117910.2,,1,0.9885,1,0.97,0.90,1.00,,,,,,,,,,,,,,,,
missense_variant,PHYH,MISSENSE,NM_006214.3:p.Pro29Ser/c.85C>T,Ccc/Tcc,MODERATE,,0.0976438,0.0238,,0.49(T),"0.029,0.017(B,B)",1.825(L),-0.8827(T),,chr10,13340236,13340236,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro29Ser/c.85C>T|338|PHYH|protein_coding|CODING|NM_006214.3|2|1),intron_variant(MODIFIER|||c.-167+1184C>T|238|PHYH|protein_coding|CODING|NM_001037537.1|1|1)",,,RCV000008020.2|RCV000117911.2,,0.0716,0.0965,0.173,0.16,0.12,0.18,,0.007247(N),0.000(P),"-2.66,-2.68,-3.41(D,D,D)",0.0041(T),0.306,0.938836,5.13,3.26,0.561000,0.542000,2.237000,0.201000,0.004000,0.991000,9.8156
synonymous_variant,SEPHS1,SILENT,NM_012247.4:p.Thr157Thr/c.471A>G,acA/acG,LOW,COSM3751625(1),0.677915,0.7609,rs10752297,,,,,,chr10,13375906,13375906,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr90Thr/c.270A>G|325|SEPHS1|protein_coding|CODING|NM_001195602.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr157Thr/c.471A>G|321|SEPHS1|protein_coding|CODING|NM_001195604.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr157Thr/c.471A>G|392|SEPHS1|protein_coding|CODING|NM_012247.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6462,0.745,0.5487,0.62,0.70,0.58,,,,,,,,,,,,,,,,
synonymous_variant,BEND7,SILENT,NM_152751.2:p.Pro147Pro/c.441T>C,ccT/ccC,LOW,COSM146884(3),0.480631,0.3403,rs2251555,,,,,,chr10,13534851,13534851,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro160Pro/c.480T>C|374|BEND7|protein_coding|CODING|NM_001100912.1|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro147Pro/c.441T>C|468|BEND7|protein_coding|CODING|NM_152751.2|5|1)","GM12878:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.5041,0.5533,0.5378,0.55,0.51,0.57,,,,,,,,,,,,,,,,
synonymous_variant,PRPF18,SILENT,NM_003675.3:p.Lys183Lys/c.549A>G,aaA/aaG,LOW,,0.366414,0.0615,rs1135102,,,,,,chr10,13653653,13653653,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys183Lys/c.549A>G|342|PRPF18|protein_coding|CODING|NM_003675.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.363,0.487,0.4632,0.47,0.48,0.47,,,,,,,,,,,,,,,,
synonymous_variant,FRMD4A,SILENT,NM_018027.3:p.Gly356Gly/c.1068T>C,ggT/ggC,LOW,,0.130192,0.1081,rs2296596,,,,,,chr10,13735947,13735947,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly356Gly/c.1068T>C|1039|FRMD4A|protein_coding|CODING|NM_018027.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:H3K27me3,GM06990:H3K36me3",,,,0.1207,0.0735,0.1103,0.13,0.18,0.11,,,,,,,,,,,,,,,,
synonymous_variant,DCLRE1C,SILENT,NM_001033855.2:p.Leu215Leu/c.643C>T,Ctg/Ttg,LOW,,0.5,0.3929,rs7076862,,,,,,chr10,14976414,14976414,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu215Leu/c.643C>T|692|DCLRE1C|protein_coding|CODING|NM_001033855.2|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu95Leu/c.283C>T|572|DCLRE1C|protein_coding|CODING|NM_001033857.2|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu95Leu/c.283C>T|572|DCLRE1C|protein_coding|CODING|NM_001033858.2|10|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu100Leu/c.298C>T|577|DCLRE1C|protein_coding|CODING|NM_001289076.1|6|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu95Leu/c.283C>T|572|DCLRE1C|protein_coding|CODING|NM_001289077.1|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu100Leu/c.298C>T|577|DCLRE1C|protein_coding|CODING|NM_001289078.1|6|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu95Leu/c.283C>T|572|DCLRE1C|protein_coding|CODING|NM_001289079.1|10|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu100Leu/c.298C>T|577|DCLRE1C|protein_coding|CODING|NM_022487.3|7|1),non_coding_exon_variant(MODIFIER|||n.1277C>T||DCLRE1C||CODING|NR_110297.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000029658.1,,0.5389,0.428,0.3638,0.45,0.64,0.35,,,,,,,,,,,,,,,,
missense_variant,MEIG1,MISSENSE,NM_001080836.2:p.Lys9Thr/c.26A>C,aAa/aCa,MODERATE,,0.611222,0.4802,rs4750568,0.3(T),0.709(P),,-0.9714(T),,chr10,15008493,15008493,A,C,het,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys9Thr/c.26A>C|88|MEIG1|protein_coding|CODING|NM_001080836.2|2|1),GM12878:H3K36me3,,,,0.6933,0.732,0.668,0.65,0.58,0.69,,0.000001(D),0.000(P),"0.7,0.7(T,T)",0.0000(T),0.351,3.347870,5.68,5.68,0.460000,2.155000,5.750000,0.808000,1.000000,1.000000,15.5945
missense_variant,ITGA8,MISSENSE,NM_003638.2:p.Val994Ala/c.2981T>C,gTa/gCa,MODERATE,,0.913938,0.7579,rs1041135,0.73(T),"0.0,0.0(B,B)",-0.63(N),-0.9579(T),,chr10,15573050,15573050,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val979Ala/c.2936T>C|1048|ITGA8|protein_coding|CODING|NM_001291494.1|27|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val994Ala/c.2981T>C|1063|ITGA8|protein_coding|CODING|NM_003638.2|28|1),splice_region_variant(LOW|||c.2936T>C|1048|ITGA8|protein_coding|CODING|NM_001291494.1|27|1),splice_region_variant(LOW|||c.2981T>C|1063|ITGA8|protein_coding|CODING|NM_003638.2|28|1)",HUVEC:H3K27me3,,,,0.9857,0.9841,1,0.96,0.90,1.00,,0.039020(N),1.000(P),-0.25(T),0.0000(T),0.073,-0.460157,5.64,4.73,-0.131000,0.740000,3.477000,0.889000,0.294000,0.997000,7.7441
missense_variant,ITGA8,MISSENSE,NM_003638.2:p.Gln581Pro/c.1742A>C,cAg/cCg,MODERATE,COSM146891(1),0.0325479,0,rs9333269,0.27(T),"0.247,0.362(B,B)",1.78(L),-1.0855(T),,chr10,15649698,15649698,T,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln566Pro/c.1697A>C|1048|ITGA8|protein_coding|CODING|NM_001291494.1|16|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln581Pro/c.1742A>C|1063|ITGA8|protein_coding|CODING|NM_003638.2|17|1)",HUVEC:H3K27me3,,,,0.0174,0.0591,0.0974,0.07,0.02,0.09,,0.122450(N),0.990(N),0.78(T),0.0042(T),0.352,0.958115,5.84,-2.03,-1.431000,-1.017000,0.007000,0.041000,0.136000,0.986000,7.9534
synonymous_variant,PTER,SILENT,NM_001001484.2:p.Gln246Gln/c.738A>G,caA/caG,LOW,COSM3751668(1),0.65635,0.8264,rs7904014,,,,,,chr10,16547058,16547058,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln246Gln/c.738A>G|349|PTER|protein_coding|CODING|NM_001001484.2|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln246Gln/c.738A>G|349|PTER|protein_coding|CODING|NM_001261836.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln97Gln/c.291A>G|200|PTER|protein_coding|CODING|NM_001261838.1|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln246Gln/c.738A>G|349|PTER|protein_coding|CODING|NM_030664.4|5|1),intron_variant(MODIFIER|||c.699-5987A>G|302|PTER|protein_coding|CODING|NM_001261837.1|4|1)",CD4:H3K36me3,,,,0.7434,0.5793,0.4771,0.51,0.59,0.46,,,,,,,,,,,,,,,,
synonymous_variant,CUBN,SILENT,NM_001081.3:p.Thr3281Thr/c.9843A>G,acA/acG,LOW,COSM146894(1),0.635982,0.4772,rs56059527,,,,,,chr10,16882518,16882518,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr3281Thr/c.9843A>G|3623|CUBN|protein_coding|CODING|NM_001081.3|62|1),,,,,0.6196,0.7378,0.7535,0.71,0.64,0.75,,,,,,,,,,,,,,,,
missense_variant,CUBN,MISSENSE,NM_001081.3:p.Ser2717Trp/c.8150C>G,tCg/tGg,MODERATE,,1,1,rs2796835,1(T),0.0(B),-3.785(N),-0.9027(T),,chr10,16943371,16943371,G,C,hom,missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser2717Trp/c.8150C>G|3623|CUBN|protein_coding|CODING|NM_001081.3|52|1),"H1ESC:Nanog,H1ESC:DNase1",,,,1,1,1,1.00,1.00,1.00,,0.000715(N),0.000(P),3.05(T),0.0000(T),0.096,0.271925,5.72,5.72,-0.127000,1.564000,3.992000,0.640000,0.934000,1.000000,17.3136
missense_variant,CUBN,MISSENSE,NM_001081.3:p.Cys2162Tyr/c.6485G>A,tGt/tAt,MODERATE,,0.993411,0.999,rs1276712,1(T),0.0(B),-0.6(N),-0.9296(T),,chr10,16967401,16967401,C,T,hom,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys2162Tyr/c.6485G>A|3623|CUBN|protein_coding|CODING|NM_001081.3|43|1),,,,,1,0.9539,1,1.00,1.00,1.00,,0.555248(N),1.000(P),2.29(T),0.0000(T),0.037,-1.477932,5.32,-6.18,-1.104000,-0.897000,0.073000,0.635000,0.065000,0.001000,14.7209
synonymous_variant,CUBN,SILENT,NM_001081.3:p.Ser1952Ser/c.5856A>G,tcA/tcG,LOW,,0.541334,0.4911,rs1801234,,,,,,chr10,16979661,16979661,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1952Ser/c.5856A>G|3623|CUBN|protein_coding|CODING|NM_001081.3|39|1),,,,,0.4233,0.5548,0.4175,0.51,0.69,0.42,,,,,,,,,,,,,,,,
missense_variant,CUBN,MISSENSE,NM_001081.3:p.Ser1935Gly/c.5803A>G,Agc/Ggc,MODERATE,,0.0878594,0.0387,rs41289305,0.38(T),0.253(B),2.155(M),-1.0753(T),,chr10,16979714,16979714,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1935Gly/c.5803A>G|3623|CUBN|protein_coding|CODING|NM_001081.3|39|1),,,,,0.1207,0.1326,0.165,0.15,0.05,0.19,,0.010840(N),1.000(P),1.35(T),0.0001(T),0.117,0.913980,5.14,0.0435,0.482000,0.036000,0.548000,0.696000,0.136000,0.192000,5.0229
missense_variant,CUBN,MISSENSE,NM_001081.3:p.Pro1559Ser/c.4675C>T,Cca/Tca,MODERATE,,0.613419,0.5585,rs1801231,0.77(T),0.046(B),0.49(N),-0.9987(T),,chr10,17024503,17024503,G,A,hom,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro1559Ser/c.4675C>T|3623|CUBN|protein_coding|CODING|NM_001081.3|31|1),,,,,0.7556,0.6268,0.8678,0.75,0.47,0.89,,0.089794(N),0.000(P),"2.37,2.37(T,T)",0.0000(T),0.048,1.076256,5.19,1.09,0.591000,0.010000,0.197000,0.983000,0.998000,0.789000,1.4038
synonymous_variant,CUBN,SILENT,NM_001081.3:p.Ile1521Ile/c.4563T>A,atT/atA,LOW,,0.613818,0.5585,rs1801229,,,,,,chr10,17024615,17024615,A,T,hom,synonymous_variant(LOW|SILENT|atT/atA|p.Ile1521Ile/c.4563T>A|3623|CUBN|protein_coding|CODING|NM_001081.3|31|1),,,,,0.7556,0.6268,0.8678,0.75,0.47,0.89,,,,,,,,,,,,,,,,
missense_variant,CUBN,MISSENSE,NM_001081.3:p.Pro389Thr/c.1165C>A,Cca/Aca,MODERATE,COSM3751676(1),0.534345,0.6558,rs1801224,0.02(D),0.212(B),1.67(L),-0.9708(T),,chr10,17147521,17147521,G,T,hom,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro389Thr/c.1165C>A|3623|CUBN|protein_coding|CODING|NM_001081.3|11|1),HepG2:H3K27me3,,,,0.5327,0.6009,0.5875,0.59,0.41,0.68,,0.412718(N),0.000(P),1.02(T),0.0000(T),0.034,2.415303,5.65,1.37,-0.282000,0.296000,3.034000,0.703000,0.490000,0.991000,5.4646
missense_variant,TRDMT1,MISSENSE,NM_004412.5:p.His101Tyr/c.301C>T,Cat/Tat,MODERATE,COSM3751678(2),0.384984,0.2599,rs11254413,0.88(T),"0.001,0.054(B,B)",0.365(N),-1.0313(T),,chr10,17204187,17204187,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His101Tyr/c.301C>T|391|TRDMT1|protein_coding|CODING|NM_004412.5|4|1),,,,,0.3466,0.4265,0.494,0.45,0.43,0.45,,0.000550(N),0.110(P),"-1.77,0.96(D,T)",0.0000(T),0.079,-1.403758,6.07,-2.15,-1.036000,-0.550000,0.633000,0.422000,0.408000,0.130000,13.9397
synonymous_variant,TRDMT1,SILENT,NM_004412.5:p.Thr56Thr/c.168G>A,acG/acA,LOW,COSM3751679(3),0.383586,0.2599,rs2273734,,,,-0.9317(T),,chr10,17216556,17216556,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr56Thr/c.168G>A|391|TRDMT1|protein_coding|CODING|NM_004412.5|2|1),,,,,0.3446,0.4265,0.494,0.44,0.43,0.45,,,0.000(P),,0.0000(T),.,-0.642762,5.35,-0.151,-1.584000,-0.112000,-0.303000,0.151000,0.998000,0.919000,0.7609
missense_variant,PTPLA,MISSENSE,NM_014241.3:p.Val70Phe/c.208G>T,Gtc/Ttc,MODERATE,COSM3749107(15),1,1,rs11254692,0.5(T),"0.0,0.0,0.001(B,B,B)",0.345(N),-1.0470(T),,chr10,17659131,17659131,C,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val70Phe/c.208G>T|288|PTPLA|protein_coding|CODING|NM_014241.3|1|1),"H1ESC:PolII,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,0.986484(N),1.000(P),"2.72,2.14(T,T)",0.0000(T),0.367,-0.175883,3.35,-3.22,-2.813000,-1.288000,0.509000,0.001000,0.002000,0.175000,5.6815
missense_variant,PTPLA,MISSENSE,NM_014241.3:p.Glu64Lys/c.190G>A,Gag/Aag,MODERATE,COSM3749108(22),0.891573,0.7679,rs7895850,1(T),"0.0,0.0,0.0(B,B,B)",-1.895(N),-1.0156(T),,chr10,17659149,17659149,C,T,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu64Lys/c.190G>A|288|PTPLA|protein_coding|CODING|NM_014241.3|1|1),"H1ESC:PolII,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9376,0.879,0.8897,0.96,0.98,0.95,,0.371221(N),1.000(P),"2.86,2.57(T,T)",0.0000(T),0.367,0.991537,3.35,2.04,-0.381000,0.439000,1.138000,0.003000,0.050000,1.000000,3.214
synonymous_variant,SLC39A12,SILENT,NM_001145195.1:p.Asp33Asp/c.99T>C,gaT/gaC,LOW,,0.927915,0.9087,rs386605901,,,,,,chr10,18242304,18242304,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp33Asp/c.99T>C|691|SLC39A12|protein_coding|CODING|NM_001145195.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp33Asp/c.99T>C|690|SLC39A12|protein_coding|CODING|NM_001282733.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp33Asp/c.99T>C|654|SLC39A12|protein_coding|CODING|NM_152725.3|2|1),intron_variant(MODIFIER|||c.-142+1350T>C|557|SLC39A12|protein_coding|CODING|NM_001282734.1|1|1)",HepG2:H3K27me3,,,,0.8896,0.9035,0.9145,0.93,0.98,0.91,,,,,,,,,,,,,,,,
missense_variant,SLC39A12,MISSENSE,NM_001145195.1:p.Ser36Gly/c.106A>G,Agc/Ggc,MODERATE,,0.265375,0.1548,rs10764176,0.62(T),"0.0,0.0,0.0(B,B,B)",0.49(N),-0.9758(T),,chr10,18242311,18242311,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser36Gly/c.106A>G|691|SLC39A12|protein_coding|CODING|NM_001145195.1|2|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser36Gly/c.106A>G|690|SLC39A12|protein_coding|CODING|NM_001282733.1|2|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser36Gly/c.106A>G|654|SLC39A12|protein_coding|CODING|NM_152725.3|2|1),intron_variant(MODIFIER|||c.-142+1357A>G|557|SLC39A12|protein_coding|CODING|NM_001282734.1|1|1)",HepG2:H3K27me3,,,,0.3476,0.2017,0.2883,0.30,0.30,0.30,,0.177415(N),1.000(P),"1.97,1.97,1.97(T,T,T)",0.0000(T),0.006,0.563593,5.51,-8.36,-0.119000,-1.186000,-1.865000,0.004000,0.000000,0.000000,5.8728
synonymous_variant,SLC39A12,SILENT,NM_001145195.1:p.Thr246Thr/c.738C>A,acC/acA,LOW,COSM3997879(1),0.33147,0.3889,rs691513,,,,,,chr10,18254606,18254606,C,A,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr246Thr/c.738C>A|691|SLC39A12|protein_coding|CODING|NM_001145195.1|4|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr246Thr/c.738C>A|690|SLC39A12|protein_coding|CODING|NM_001282733.1|4|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr112Thr/c.336C>A|557|SLC39A12|protein_coding|CODING|NM_001282734.1|3|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr246Thr/c.738C>A|654|SLC39A12|protein_coding|CODING|NM_152725.3|4|1)",HepG2:H3K27me3,,,,0.3108,0.4006,0.3608,0.31,0.26,0.34,,,,,,,,,,,,,,,,
missense_variant,SLC39A12,MISSENSE,NM_001145195.1:p.Val304Ile/c.910G>A,Gtt/Att,MODERATE,,0.664736,0.6627,rs2478568,0.21(T),"0.001,0.0,0.001(B,B,B)",-0.51(N),-1.0053(T),,chr10,18266989,18266989,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val304Ile/c.910G>A|691|SLC39A12|protein_coding|CODING|NM_001145195.1|5|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val304Ile/c.910G>A|690|SLC39A12|protein_coding|CODING|NM_001282733.1|5|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val170Ile/c.508G>A|557|SLC39A12|protein_coding|CODING|NM_001282734.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val304Ile/c.910G>A|654|SLC39A12|protein_coding|CODING|NM_152725.3|5|1)",,,,,0.7444,0.6888,0.6322,0.63,0.63,0.63,,0.000001(N),1.000(P),"0.21,0.1,0.22,0.1(T,T,T,T)",0.0000(T),0.063,-0.226350,4.72,-9.43,-1.058000,-3.949000,-4.098000,0.097000,0.000000,0.000000,5.1597
synonymous_variant,MALRD1,SILENT,NM_001142308.2:p.Gln205Gln/c.615A>G,caA/caG,LOW,,0.121006,0.2887,rs57243552,,,,,,chr10,19392925,19392925,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln205Gln/c.615A>G|2156|MALRD1|protein_coding|CODING|NM_001142308.2|5|1),,,,,0.0838,0.0663,0.0368,,,,,,,,,,,,,,,,,,,
synonymous_variant,MALRD1,SILENT,NM_001142308.2:p.Arg334Arg/c.1002G>A,agG/agA,LOW,,0.0603035,0,rs78076387,,,,,,chr10,19417208,19417208,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg334Arg/c.1002G>A|2156|MALRD1|protein_coding|CODING|NM_001142308.2|8|1),,,,,0.0184,0.0677,0.0726,,,,,,,,,,,,,,,,,,,
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Ser887Asn/c.2660G>A,aGc/aAc,MODERATE,,0.935503,0.999,rs2358355,,,,-1.0369(T),,chr10,19498278,19498278,G,A,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser887Asn/c.2660G>A|2156|MALRD1|protein_coding|CODING|NM_001142308.2|18|1),,,,,0.9121,0.9164,0.833,,,,,0.808594(N),1.000(P),"4.41,4.41(T,T)",0.0000(T),0.011,-1.699601,4.87,1.04,-2.276000,-0.595000,0.713000,0.627000,0.413000,0.832000,2.6814
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Asp1266Ala/c.3797A>C,gAt/gCt,MODERATE,,0.582268,0.5248,rs7100382,,,,-0.8841(T),,chr10,19620407,19620407,A,C,het,missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp1266Ala/c.3797A>C|2156|MALRD1|protein_coding|CODING|NM_001142308.2|24|1),HepG2:H3K36me3,,,,0.4479,0.5432,0.6173,,,,,,0.103(P),"-3.58,-3.58(D,D)",0.0000(T),0.095,-1.275481,5.35,5.35,-0.231000,1.525000,2.305000,0.102000,0.176000,0.018000,11.0113
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Ile1277Val/c.3829A>G,Att/Gtt,MODERATE,,0.505591,0.5248,rs7100403,,,,-1.2127(T),,chr10,19620439,19620439,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1277Val/c.3829A>G|2156|MALRD1|protein_coding|CODING|NM_001142308.2|24|1),HepG2:H3K36me3,,,,0.4254,0.5029,0.5905,,,,,,0.000(P),"-4.66,-4.66(D,D)",0.0000(T),0.292,2.132030,6.05,6.05,0.528000,2.320000,4.605000,0.990000,0.995000,1.000000,13.0293
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Lys1357Asn/c.4071G>T,aaG/aaT,MODERATE,,0.501198,0.5218,rs1609746,,,,-1.1335(T),,chr10,19636869,19636869,G,T,het,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys1357Asn/c.4071G>T|2156|MALRD1|protein_coding|CODING|NM_001142308.2|25|1),"NHEK:CTCF,HMEC:CTCF,HepG2:CTCF,HepG2:H3K36me3,H1ESC:Rad21",,,,0.4202,0.5058,0.5905,,,,,,0.000(P),"4.61,4.61(T,T)",0.0000(T),0.106,2.528377,4.88,3.02,0.591000,0.640000,1.358000,0.902000,1.000000,1.000000,8.5666
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Val1417Glu/c.4250T>A,gTa/gAa,MODERATE,,0.000399361,0,,,,,-0.9140(T),,chr10,19641035,19641035,T,A,het,missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val1417Glu/c.4250T>A|2156|MALRD1|protein_coding|CODING|NM_001142308.2|26|1),HepG2:H3K36me3,,,,0,0.0014,0.001,,,,,,0.000(P),"4.6,4.6(T,T)",0.0047(T),0.233,-1.291446,5.54,-1.66,-0.263000,-0.522000,0.693000,0.321000,0.015000,1.000000,1.8306
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Met1586Val/c.4756A>G,Atg/Gtg,MODERATE,,0.0786741,0.1528,rs78832888,,,,-0.9021(T),,chr10,19678449,19678449,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1586Val/c.4756A>G|2156|MALRD1|protein_coding|CODING|NM_001142308.2|28|1),HepG2:H3K36me3,,,,0.0624,0.085,0.1103,,,,,,1.000(P),"4.61,4.61,4.61(T,T,T)",0.0000(T),0.039,-2.681761,4.82,-9.43,-1.930000,-1.587000,-0.521000,0.000000,0.000000,0.000000,2.7102
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Val1602Ile/c.4804G>A,Gta/Ata,MODERATE,,0.839257,0.8343,rs10763975,,,,-1.0723(T),,chr10,19678497,19678497,G,A,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1602Ile/c.4804G>A|2156|MALRD1|protein_coding|CODING|NM_001142308.2|28|1),HepG2:H3K36me3,,,,0.7403,0.7334,0.8907,,,,,,0.000(P),"4.47,4.47,4.47(T,T,T)",0.0000(T),0.071,-0.166288,5.12,1.27,-1.135000,-0.184000,1.936000,0.892000,0.993000,1.000000,8.9891
missense_variant,MALRD1,MISSENSE,NM_001142308.2:p.Ser1941Asn/c.5822G>A,aGc/aAc,MODERATE,COSM3997891(2),0.457867,0.378,rs10827628,,,,-0.9703(T),,chr10,19884264,19884264,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1941Asn/c.5822G>A|2156|MALRD1|protein_coding|CODING|NM_001142308.2|34|1),HepG2:H3K36me3,,,,0.3753,0.3948,0.5616,,,,,,1.000(P),"-2.36,-2.0,-3.03(D,D,D)",0.0000(T),0.061,0.070794,4.29,3.31,0.563000,0.965000,1.403000,0.314000,0.015000,0.018000,5.2685
missense_variant,PLXDC2,MISSENSE,NM_032812.8:p.Val396Ile/c.1186G>A,Gta/Ata,MODERATE,COSM3751681(1),0.566294,0.3085,rs3817405,0.44(T),"0.002,0.001(B,B)",1.39(L),-1.0111(T),,chr10,20506418,20506418,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val347Ile/c.1039G>A|480|PLXDC2|protein_coding|CODING|NM_001282736.1|10|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val396Ile/c.1186G>A|529|PLXDC2|protein_coding|CODING|NM_032812.8|11|1)",HepG2:H3K36me3,,,,0.5798,0.4481,0.7048,0.69,0.69,0.69,,0.193686(N),1.000(P),"-1.0,-1.0(T,T)",0.0000(T),0.026,-0.421120,5.55,-11.1,-0.993000,-2.080000,-2.181000,0.043000,0.000000,0.000000,4.8745
missense_variant,PLXDC2,MISSENSE,NM_032812.8:p.Ile458Val/c.1372A>G,Att/Gtt,MODERATE,,0.782149,0.5536,rs2778979,1(T),"0.0,0.0(B,B)",-0.28(N),-0.9568(T),,chr10,20534333,20534333,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile409Val/c.1225A>G|480|PLXDC2|protein_coding|CODING|NM_001282736.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile458Val/c.1372A>G|529|PLXDC2|protein_coding|CODING|NM_032812.8|13|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3",,,,0.7863,0.6758,0.8857,0.91,0.92,0.90,,0.000007(N),0.999(P),"2.16,2.15(T,T)",0.0000(T),0.154,-0.552300,5.9,5.0,-0.748000,0.868000,2.095000,0.882000,0.969000,0.989000,9.8174
missense_variant,EBLN1,MISSENSE,NM_001199938.1:p.Met235Thr/c.704T>C,aTg/aCg,MODERATE,,0.313898,0.2202,rs2243897,,,,,,chr10,22498209,22498209,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met235Thr/c.704T>C|366|EBLN1|protein_coding|CODING|NM_001199938.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1431,0.3098,0.2535,,,,,,,,,,,,,,,,,,,
missense_variant,EBLN1,MISSENSE,NM_001199938.1:p.Gly149Arg/c.445G>A,Gga/Aga,MODERATE,,0.226238,0.2123,rs838759,,,,,,chr10,22498468,22498468,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly149Arg/c.445G>A|366|EBLN1|protein_coding|CODING|NM_001199938.1|1|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1339,0.2839,0.2276,,,,,,,,,,,,,,,,,,,
missense_variant,EBLN1,MISSENSE,NM_001199938.1:p.Val55Asp/c.164T>A,gTc/gAc,MODERATE,,0.998802,1,rs2478476,,,,,,chr10,22498749,22498749,A,T,hom,missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val55Asp/c.164T>A|366|EBLN1|protein_coding|CODING|NM_001199938.1|1|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,COMMD3-BMI1,MISSENSE,NM_001204062.1:p.Leu3Phe/c.7C>T,Ctc/Ttc,MODERATE,,,,,,,2.19(M),-0.3358(T),,chr10,22605353,22605353,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu3Phe/c.7C>T|469|COMMD3-BMI1|protein_coding|CODING|NM_001204062.1|1|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu3Phe/c.7C>T|195|COMMD3|protein_coding|CODING|NM_012071.3|1|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,K562:Nfe2,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,GM12878:Cfos,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:Tr4,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4",,,,,,,,,,,,0.999(D),,0.3749(T),.,3.522332,4.78,2.92,-0.140000,0.737000,3.513000,0.940000,1.000000,1.000000,10.1234
missense_variant,ARMC3,MISSENSE,NM_173081.4:p.Arg626Gln/c.1877G>A,cGa/cAa,MODERATE,COSM3751690(1),0.188498,0.12,rs10828395,0.66(T),"0.036,0.024(B,B)",0.625(N),-1.0646(T),,chr10,23297252,23297252,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg626Gln/c.1877G>A|865|ARMC3|protein_coding|CODING|NM_001282745.1|15|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg626Gln/c.1877G>A|688|ARMC3|protein_coding|CODING|NM_001282746.1|15|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg363Gln/c.1088G>A|609|ARMC3|protein_coding|CODING|NM_001282747.1|12|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg626Gln/c.1877G>A|872|ARMC3|protein_coding|CODING|NM_173081.4|15|1)",HUVEC:H3K27me3,,,,0.2014,0.0951,0.1859,0.21,0.27,0.18,,0.384715(N),0.000(P),"1.19,1.18,1.2,2.42(T,T,T,T)",0.0000(T),0.273,2.271992,5.56,5.56,0.563000,2.603000,2.748000,0.877000,0.999000,0.997000,15.0276
synonymous_variant,KIAA1217,SILENT,NM_019590.4:p.Ala385Ala/c.1155A>G,gcA/gcG,LOW,COSM3751696(1),0.0748802,0.1349,rs3748215,,,,,,chr10,24762465,24762465,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala305Ala/c.915A>G|1264|KIAA1217|protein_coding|CODING|NM_001098500.2|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala385Ala/c.1155A>G|1374|KIAA1217|protein_coding|CODING|NM_001282767.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala385Ala/c.1155A>G|1349|KIAA1217|protein_coding|CODING|NM_001282768.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala103Ala/c.309A>G|932|KIAA1217|protein_coding|CODING|NM_001282769.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala103Ala/c.309A>G|866|KIAA1217|protein_coding|CODING|NM_001282770.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala385Ala/c.1155A>G|1943|KIAA1217|protein_coding|CODING|NM_019590.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0317,0.1009,0.1322,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1217,SILENT,NM_019590.4:p.Ile1646Ile/c.4938C>T,atC/atT,LOW,,0.261182,0.1419,rs2250411,,,,,,chr10,24833137,24833137,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile1646Ile/c.4938C>T|1943|KIAA1217|protein_coding|CODING|NM_019590.4|19|1),intron_variant(MODIFIER|||c.3175-773C>T|1264|KIAA1217|protein_coding|CODING|NM_001098500.2|17|1),intron_variant(MODIFIER|||c.2464-773C>T|866|KIAA1217|protein_coding|CODING|NM_001282770.1|11|1),intron_variant(MODIFIER|||c.3430-773C>T|1349|KIAA1217|protein_coding|CODING|NM_001282768.1|16|1),intron_variant(MODIFIER|||c.3505-773C>T|1374|KIAA1217|protein_coding|CODING|NM_001282767.1|17|1),intron_variant(MODIFIER|||c.2662-773C>T|932|KIAA1217|protein_coding|CODING|NM_001282769.1|13|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2178,0.3141,0.3956,0.35,0.28,0.38,,,,,,,,,,,,,,,,
missense_variant,ARHGAP21,MISSENSE,NM_020824.3:p.Ile396Val/c.1186A>G,Att/Gtt,MODERATE,,0.000798722,0,rs142708046,0.07(T),"0.128,0.098(B,B)",1.52(L),-0.9316(T),,chr10,24909638,24909638,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile396Val/c.1186A>G|1958|ARHGAP21|protein_coding|CODING|NM_020824.3|9|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0.0043,0.001,0.00,0.00,0.00,,0.000000(D),0.999(D),"2.53,2.54,0.6,0.59(T,T,T,T)",0.1129(T),0.171,2.476928,5.71,5.71,0.528000,2.307000,4.802000,0.993000,1.000000,1.000000,12.158
missense_variant,GPR158,MISSENSE,NM_020752.2:p.Ala425Gly/c.1274C>G,gCc/gGc,MODERATE,,0.490615,0.1587,rs2480345,0.31(T),0.016(B),0.06(N),-0.9829(T),,chr10,25701341,25701341,C,G,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala425Gly/c.1274C>G|1215|GPR158|protein_coding|CODING|NM_020752.2|4|1),,,,,0.6605,0.5029,0.6948,0.64,0.48,0.73,,0.012330(N),0.938(P),0.22(T),0.0000(T),0.227,2.401024,6.16,4.01,0.650000,1.612000,3.212000,0.999000,1.000000,1.000000,14.0138
missense_variant,GPR158,MISSENSE,NM_020752.2:p.Ile1209Val/c.3625A>G,Atc/Gtc,MODERATE,,0.663538,0.7579,rs10828833,1(T),0.0(B),-0.345(N),-0.9582(T),,chr10,25888180,25888180,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1209Val/c.3625A>G|1215|GPR158|protein_coding|CODING|NM_020752.2|11|1),,,,,0.5399,0.5144,0.3956,0.57,0.87,0.42,,0.255005(N),1.000(P),0.29(T),0.0000(T),0.015,-1.856044,5.92,3.1,-0.119000,0.136000,2.214000,0.573000,0.145000,0.991000,10.728
synonymous_variant,MYO3A,SILENT,NM_017433.4:p.Thr160Thr/c.480G>T,acG/acT,LOW,,0.0914537,0.004,rs12257119,,,,,,chr10,26286159,26286159,G,T,het,synonymous_variant(LOW|SILENT|acG/acT|p.Thr160Thr/c.480G>T|1616|MYO3A|protein_coding|CODING|NM_017433.4|6|1),,,RCV000039044.1,,0.0194,0.0548,0.0626,0.11,0.22,0.05,,,,,,,,,,,,,,,,
missense_variant,MYO3A,MISSENSE,NM_017433.4:p.Arg319His/c.956G>A,cGt/cAt,MODERATE,COSM3751700(3),0.39357,0.2937,rs3824700,1(T),"0.0,0.0(B,B)",-2.33(N),-0.9244(T),,chr10,26355906,26355906,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg319His/c.956G>A|1616|MYO3A|protein_coding|CODING|NM_017433.4|11|1),splice_region_variant(LOW|||c.956G>A|1616|MYO3A|protein_coding|CODING|NM_017433.4|11|1)",,,RCV000039050.1,,0.4765,0.3473,0.5527,0.49,0.37,0.55,,0.000001(N),0.000(P),"-1.07,-0.87(T,T)",0.0000(T),0.062,-0.155574,5.56,5.56,-0.269000,0.949000,4.608000,0.680000,1.000000,1.000000,6.7392
missense_variant,MYO3A,MISSENSE,NM_017433.4:p.Ile348Val/c.1042A>G,Att/Gtt,MODERATE,,0.66274,0.6181,rs3824699,1(T),"0.0,0.001(B,B)",-1.59(N),-0.9223(T),,chr10,26355992,26355992,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile348Val/c.1042A>G|1616|MYO3A|protein_coding|CODING|NM_017433.4|11|1),,,RCV000039019.1,,0.6299,0.6311,0.7217,0.68,0.68,0.68,,0.018770(N),0.721(P),"-0.53,-2.19(T,D)",0.0000(T),0.065,-0.913670,5.56,2.73,-0.128000,0.067000,2.019000,0.733000,0.708000,1.000000,9.6168
synonymous_variant,MYO3A,SILENT,NM_017433.4:p.Tyr368Tyr/c.1104C>T,taC/taT,LOW,COSM3930988(1),0.396565,0.2956,rs35379457,,,,,,chr10,26357747,26357747,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr368Tyr/c.1104C>T|1616|MYO3A|protein_coding|CODING|NM_017433.4|12|1),,,RCV000039023.1,,0.4765,0.3516,0.5616,0.45,0.34,0.51,,,,,,,,,,,,,,,,
missense_variant,MYO3A,MISSENSE,NM_017433.4:p.Val369Ile/c.1105G>A,Gtc/Atc,MODERATE,,0.66893,0.6181,rs3817420,0.21(T),"0.0,0.001(B,B)",-0.345(N),-0.9026(T),,chr10,26357748,26357748,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val369Ile/c.1105G>A|1616|MYO3A|protein_coding|CODING|NM_017433.4|12|1),,,RCV000039024.1,,0.6288,0.6369,0.7227,0.67,0.68,0.66,,0.000014(N),0.000(P),"-0.59,-2.22(T,D)",0.0000(T),0.051,1.999339,5.55,3.19,-0.254000,0.068000,4.224000,0.921000,0.616000,1.000000,6.1439
synonymous_variant,MYO3A,SILENT,NM_017433.4:p.Glu581Glu/c.1743G>A,gaG/gaA,LOW,,0.0573083,0.004,rs41279908,,,,,,chr10,26385578,26385578,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu581Glu/c.1743G>A|1616|MYO3A|protein_coding|CODING|NM_017433.4|17|1),,,RCV000039028.1,,0.0256,0.0706,0.1223,0.11,0.08,0.12,,,,,,,,,,,,,,,,
missense_variant,MYO3A,MISSENSE,NM_017433.4:p.Ser956Asn/c.2867G>A,aGt/aAt,MODERATE,COSM146910(5),0.455272,0.3552,rs3758449,0.84(T),0.001(B),-0.56(N),-0.9500(T),,chr10,26446312,26446312,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser956Asn/c.2867G>A|1616|MYO3A|protein_coding|CODING|NM_017433.4|26|1),,,RCV000039031.1,,0.4826,0.451,0.5646,0.52,0.47,0.55,,0.000000(N),0.000(P),-0.56(T),0.0000(T),0.017,0.531306,5.31,4.17,-0.254000,0.961000,5.327000,0.993000,1.000000,1.000000,9.5203
missense_variant,MYO3A,MISSENSE,NM_017433.4:p.Arg1313Ser/c.3937C>A,Cgt/Agt,MODERATE,,0.601038,0.6329,rs1999240,0.75(T),0.0(B),0(N),-0.9205(T),,chr10,26463130,26463130,C,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg1313Ser/c.3937C>A|1616|MYO3A|protein_coding|CODING|NM_017433.4|30|1),HepG2:H3K27me3,,RCV000039038.1,,0.6084,0.634,0.6004,0.56,0.55,0.57,,0.001124(N),0.000(P),-1.16(T),0.0000(T),0.009,-1.940455,5.22,4.07,-0.362000,0.300000,3.235000,0.147000,0.583000,0.993000,8.6585
missense_variant,ANKRD26,MISSENSE,NM_014915.2:p.Gln20Arg/c.59A>G,cAg/cGg,MODERATE,COSM3751701(4),0.944688,0.999,rs7897309,1(T),"0.0,0.0(B,B)",-0.345(N),-0.9835(T),,chr10,27389197,27389197,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln20Arg/c.59A>G|1709|ANKRD26|protein_coding|CODING|NM_001256053.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln20Arg/c.59A>G|1710|ANKRD26|protein_coding|CODING|NM_014915.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4",,,,0.9233,0.9337,0.8628,0.89,0.97,0.86,,,1.000(P),"1.64,1.63(T,T)",0.0000(T),0.088,-0.182950,4.32,-1.08,-0.320000,-0.616000,-1.396000,0.044000,0.000000,0.000000,4.5505
synonymous_variant,MASTL,SILENT,NM_001172303.1:p.Ile594Ile/c.1782C>T,atC/atT,LOW,,0.504593,0.4375,rs1981296,,,,,,chr10,27459670,27459670,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile594Ile/c.1782C>T|879|MASTL|protein_coding|CODING|NM_001172303.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile594Ile/c.1782C>T|840|MASTL|protein_coding|CODING|NM_001172304.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile594Ile/c.1782C>T|878|MASTL|protein_coding|CODING|NM_032844.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4346,0.5231,0.6024,0.62,0.55,0.65,,,,,,,,,,,,,,,,
synonymous_variant,MASTL,SILENT,NM_001172303.1:p.Thr873Thr/c.2619T>C,acT/acC,LOW,,0.510982,0.4563,rs10741130,,,,,,chr10,27475444,27475444,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr873Thr/c.2619T>C|879|MASTL|protein_coding|CODING|NM_001172303.1|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr834Thr/c.2502T>C|840|MASTL|protein_coding|CODING|NM_001172304.1|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr872Thr/c.2616T>C|878|MASTL|protein_coding|CODING|NM_032844.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4315,0.5231,0.6103,0.63,0.56,0.66,,,,,,,,,,,,,,,,
synonymous_variant,ACBD5,SILENT,NM_145698.4:p.Pro173Pro/c.519A>G,ccA/ccG,LOW,COSM1178411(1),0.317891,0.4147,rs10764690,,,,,,chr10,27508758,27508758,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro138Pro/c.414A>G|490|ACBD5|protein_coding|CODING|NM_001042473.3|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro171Pro/c.513A>G|523|ACBD5|protein_coding|CODING|NM_001271512.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro64Pro/c.192A>G|416|ACBD5|protein_coding|CODING|NM_001301251.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro64Pro/c.192A>G|416|ACBD5|protein_coding|CODING|NM_001301252.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro64Pro/c.192A>G|416|ACBD5|protein_coding|CODING|NM_001301253.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro64Pro/c.192A>G|348|ACBD5|protein_coding|CODING|NM_001301254.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro173Pro/c.519A>G|525|ACBD5|protein_coding|CODING|NM_145698.4|6|1),non_coding_exon_variant(MODIFIER|||n.464A>G||ACBD5||CODING|NR_024150.1|5|1),non_coding_exon_variant(MODIFIER|||n.454A>G||ACBD5||CODING|NR_073195.1|5|1),non_coding_exon_variant(MODIFIER|||n.778A>G||ACBD5||CODING|NR_073196.2|4|1),non_coding_exon_variant(MODIFIER|||n.778A>G||ACBD5||CODING|NR_073197.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3507,0.3905,0.4652,0.39,0.16,0.51,,,,,,,,,,,,,,,,
stop_lost,PTCHD3,MISSENSE,NM_001034842.3:p.Ter768Glnext*?/c.2302T>C,Taa/Caa,HIGH,COSM3997930(1),0.55012,0.37,rs2505323,,,,,,chr10,27687225,27687225,A,G,hom,stop_lost(HIGH|MISSENSE|Taa/Caa|p.Ter768Glnext*?/c.2302T>C|767|PTCHD3|protein_coding|CODING|NM_001034842.3|4|1),,,,,0.6534,0.5202,0.6829,0.63,0.53,0.68,,,1.000(P),,,.,-0.877239,4.39,3.46,-0.263000,0.465000,0.032000,0.023000,0.007000,0.000000,10.2224
missense_variant,PTCHD3,MISSENSE,NM_001034842.3:p.Ile584Met/c.1752A>G,atA/atG,MODERATE,,0.97504,0.997,rs1638630,1(T),,,-0.9289(T),,chr10,27687775,27687775,T,C,hom,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile584Met/c.1752A>G|767|PTCHD3|protein_coding|CODING|NM_001034842.3|4|1),HUVEC:H3K27me3,,,,0.9826,0.9769,0.9612,0.96,0.97,0.96,,0.008961(N),1.000(P),-2.02(D),0.0000(T),0.036,-3.169591,4.19,1.18,-0.338000,-0.159000,-0.047000,0.099000,0.014000,0.539000,4.8632
missense_variant,PTCHD3,MISSENSE,NM_001034842.3:p.Met521Thr/c.1562T>C,aTg/aCg,MODERATE,COSM3997931(1),0.54992,0.37,rs2505327,0.86(T),0.001(B),-2.255(N),-0.9349(T),,chr10,27687965,27687965,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met521Thr/c.1562T>C|767|PTCHD3|protein_coding|CODING|NM_001034842.3|4|1),HUVEC:H3K27me3,,,,0.6524,0.5202,0.6829,0.63,0.53,0.68,,0.004672(N),0.986(P),-1.95(D),0.0000(T),0.048,-1.256648,4.08,4.08,-0.338000,0.934000,3.946000,0.248000,0.970000,1.000000,11.7298
synonymous_variant,PTCHD3,SILENT,NM_001034842.3:p.Ser511Ser/c.1533T>C,tcT/tcC,LOW,COSM3997932(1),0.55012,0.37,rs2484173,,,,,,chr10,27687994,27687994,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser511Ser/c.1533T>C|767|PTCHD3|protein_coding|CODING|NM_001034842.3|4|1),HUVEC:H3K27me3,,,,0.6534,0.5202,0.6829,0.63,0.53,0.68,,,,,,,,,,,,,,,,
missense_variant,PTCHD3,MISSENSE,NM_001034842.3:p.Asp473Gly/c.1418A>G,gAt/gGt,MODERATE,COSM3997933(2),0.55012,0.37,rs2429485,0.4(T),0.008(B),0.47(N),-0.9379(T),,chr10,27688109,27688109,T,C,hom,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp473Gly/c.1418A>G|767|PTCHD3|protein_coding|CODING|NM_001034842.3|4|1),HUVEC:H3K27me3,,,,0.6534,0.5202,0.6829,0.63,0.53,0.68,,0.601465(N),1.000(P),-2.01(D),0.0000(T),0.04,-2.107772,3.84,-0.118,-0.604000,-0.224000,2.124000,0.005000,0.000000,0.079000,1.1839
synonymous_variant,PTCHD3,SILENT,NM_001034842.3:p.Leu152Leu/c.454C>T,Ctg/Ttg,LOW,COSM4144616(2),0.169329,0.0089,rs11015753,,,,,,chr10,27702726,27702726,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu152Leu/c.454C>T|767|PTCHD3|protein_coding|CODING|NM_001034842.3|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3057,0.1844,0.3062,0.23,0.09,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PTCHD3,SILENT,NM_001034842.3:p.Leu146Leu/c.436T>C,Ttg/Ctg,LOW,COSM4144617(2),0.101038,0.004,rs11015754,,,,,,chr10,27702744,27702744,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu146Leu/c.436T>C|767|PTCHD3|protein_coding|CODING|NM_001034842.3|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1544,0.121,0.2008,0.15,0.05,0.20,,,,,,,,,,,,,,,,
missense_variant,MPP7,MISSENSE,NM_173496.3:p.Lys322Arg/c.965A>G,aAa/aGa,MODERATE,,0.931709,0.9593,rs2997211,0.71(T),0.0(B),-2.125(N),-0.9494(T),,chr10,28378758,28378758,T,C,hom,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys322Arg/c.965A>G|576|MPP7|protein_coding|CODING|NM_173496.3|14|1),"HSMM:H3K36me3,IMR90:DNase1,HUVEC:Cjun,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac",,,,0.9213,0.9496,0.8757,0.90,0.95,0.88,,0.000000(N),0.999(P),"-1.51,-1.51,-1.51,-1.51,1.57,-1.51(D,D,D,D,T,D)",0.0000(T),0.117,1.137817,5.79,5.79,-0.119000,1.460000,5.783000,0.988000,1.000000,1.000000,15.1054
synonymous_variant,C10orf126,SILENT,NM_001278522.1:p.Asn2Asn/c.6C>T,aaC/aaT,LOW,,0.00678914,0.001,rs41283728,,,,,,chr10,29136175,29136175,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2Asn/c.6C>T|172|C10orf126|protein_coding|CODING|NM_001278522.1|2|1),HepG2:H3K27me3,,,,0.0123,0.0115,0.0129,,,,,,,,,,,,,,,,,,,
synonymous_variant,LYZL1,SILENT,NM_032517.4:p.Gly119Gly/c.357C>T,ggC/ggT,LOW,,0.0900559,0.0377,rs11007514,,,,,,chr10,29581527,29581527,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly119Gly/c.357C>T|194|LYZL1|protein_coding|CODING|NM_032517.4|3|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0613,0.0418,0.0775,0.10,0.16,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Pro2168Pro/c.6504G>A,ccG/ccA,LOW,COSM3751706(1),0.359425,0.5565,rs1887465,,,,,,chr10,29747417,29747417,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1742Pro/c.5226G>A|1788|SVIL|protein_coding|CODING|NM_003174.3|35|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2168Pro/c.6504G>A|2214|SVIL|protein_coding|CODING|NM_021738.2|37|1),intron_variant(MODIFIER|||n.207-8752C>T||LOC102724316||NON_CODING|NR_110925.1|2|1),intron_variant(MODIFIER|||n.182-8752C>T||LOC102724316||NON_CODING|NR_110926.1|2|1),intron_variant(MODIFIER|||n.276-10432C>T||LOC102724316||NON_CODING|NR_110928.1|2|1),intron_variant(MODIFIER|||n.182-10432C>T||LOC102724316||NON_CODING|NR_110929.1|2|1),intron_variant(MODIFIER|||n.207-24345C>T||LOC102724316||NON_CODING|NR_110921.1|2|1),intron_variant(MODIFIER|||n.182-24345C>T||LOC102724316||NON_CODING|NR_110922.1|2|1),intron_variant(MODIFIER|||n.182-28667C>T||LOC102724316||NON_CODING|NR_110927.1|2|1),non_coding_exon_variant(MODIFIER|||n.421C>T||LOC102724316||NON_CODING|NR_110920.1|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.362,0.3746,0.2465,0.24,0.30,0.21,,,,,,,,,,,,,,,,
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Thr2016Thr/c.6048A>G,acA/acG,LOW,COSM146917(2),0.423123,0.5625,rs1057952,,,,,,chr10,29754609,29754609,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1590Thr/c.4770A>G|1788|SVIL|protein_coding|CODING|NM_003174.3|32|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr2016Thr/c.6048A>G|2214|SVIL|protein_coding|CODING|NM_021738.2|34|1),intron_variant(MODIFIER|||n.207-1560T>C||LOC102724316||NON_CODING|NR_110925.1|2|1),intron_variant(MODIFIER|||n.182-1560T>C||LOC102724316||NON_CODING|NR_110926.1|2|1),intron_variant(MODIFIER|||n.276-3240T>C||LOC102724316||NON_CODING|NR_110928.1|2|1),intron_variant(MODIFIER|||n.182-3240T>C||LOC102724316||NON_CODING|NR_110929.1|2|1),intron_variant(MODIFIER|||n.207-17153T>C||LOC102724316||NON_CODING|NR_110921.1|2|1),intron_variant(MODIFIER|||n.182-17153T>C||LOC102724316||NON_CODING|NR_110922.1|2|1),intron_variant(MODIFIER|||n.182-21475T>C||LOC102724316||NON_CODING|NR_110927.1|2|1),intron_variant(MODIFIER|||n.453+7160T>C||LOC102724316||NON_CODING|NR_110920.1|3|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,H1ESC:CTCF",,,,0.3957,0.4323,0.3817,0.36,0.38,0.35,,,,,,,,,,,,,,,,
missense_variant,SVIL,MISSENSE,NM_021738.2:p.Ile2005Val/c.6013A>G,Atc/Gtc,MODERATE,COSM3751707(1),0.185304,0.3204,rs7921306,0.38(T),"0.043,0.032,0.014(B,B,B)",0.345(N),-1.0111(T),,chr10,29754644,29754644,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1579Val/c.4735A>G|1788|SVIL|protein_coding|CODING|NM_003174.3|32|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile2005Val/c.6013A>G|2214|SVIL|protein_coding|CODING|NM_021738.2|34|1),intron_variant(MODIFIER|||n.207-1525T>C||LOC102724316||NON_CODING|NR_110925.1|2|1),intron_variant(MODIFIER|||n.182-1525T>C||LOC102724316||NON_CODING|NR_110926.1|2|1),intron_variant(MODIFIER|||n.276-3205T>C||LOC102724316||NON_CODING|NR_110928.1|2|1),intron_variant(MODIFIER|||n.182-3205T>C||LOC102724316||NON_CODING|NR_110929.1|2|1),intron_variant(MODIFIER|||n.207-17118T>C||LOC102724316||NON_CODING|NR_110921.1|2|1),intron_variant(MODIFIER|||n.182-17118T>C||LOC102724316||NON_CODING|NR_110922.1|2|1),intron_variant(MODIFIER|||n.182-21440T>C||LOC102724316||NON_CODING|NR_110927.1|2|1),intron_variant(MODIFIER|||n.453+7195T>C||LOC102724316||NON_CODING|NR_110920.1|3|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,H1ESC:CTCF",,,,0.1912,0.1542,0.1541,0.13,0.13,0.13,,0.000020(D),0.000(P),"1.01,1.01,1.01,1.01(T,T,T,T)",0.0000(T),0.093,2.108565,4.72,4.72,0.528000,1.965000,3.471000,0.994000,1.000000,1.000000,14.3552
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Ala1941Ala/c.5823T>C,gcT/gcC,LOW,COSM146918(1),0.247204,0.2391,rs11007607,,,,,,chr10,29759225,29759225,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1515Ala/c.4545T>C|1788|SVIL|protein_coding|CODING|NM_003174.3|30|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1941Ala/c.5823T>C|2214|SVIL|protein_coding|CODING|NM_021738.2|32|1),downstream_gene_variant(MODIFIER||1166|||LOC102724316||NON_CODING|NR_110925.1||1),downstream_gene_variant(MODIFIER||1166|||LOC102724316||NON_CODING|NR_110926.1||1),downstream_gene_variant(MODIFIER||1166|||LOC102724316||NON_CODING|NR_110928.1||1),downstream_gene_variant(MODIFIER||1166|||LOC102724316||NON_CODING|NR_110929.1||1),intron_variant(MODIFIER|||n.207-12537A>G||LOC102724316||NON_CODING|NR_110921.1|2|1),intron_variant(MODIFIER|||n.182-12537A>G||LOC102724316||NON_CODING|NR_110922.1|2|1),intron_variant(MODIFIER|||n.182-16859A>G||LOC102724316||NON_CODING|NR_110927.1|2|1),intron_variant(MODIFIER|||n.453+11776A>G||LOC102724316||NON_CODING|NR_110920.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.2025,0.2839,0.2286,0.23,0.27,0.21,,,,,,,,,,,,,,,,
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Leu1267Leu/c.3799T>C,Ttg/Ctg,LOW,COSM3751708(2),,,rs1056782,,,,,,chr10,29783885,29783885,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu841Leu/c.2521T>C|1788|SVIL|protein_coding|CODING|NM_003174.3|18|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1267Leu/c.3799T>C|2214|SVIL|protein_coding|CODING|NM_021738.2|20|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,0.35,0.25,0.40,,,,,,,,,,,,,,,,
missense_variant,SVIL,MISSENSE,NM_021738.2:p.Pro1235Ala/c.3703C>G,Ccc/Gcc,MODERATE,COSM1599890(1),,,rs2368406,0.1(T),"0.853,0.539,0.561,0.186(P,P,P,B)",2.215(M),-0.9763(T),,chr10,29784072,29784072,G,C,het,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro809Ala/c.2425C>G|1788|SVIL|protein_coding|CODING|NM_003174.3|17|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro1235Ala/c.3703C>G|2214|SVIL|protein_coding|CODING|NM_021738.2|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.000003(D),0.000(P),"2.69,2.68,2.68,2.62,1.69(T,T,T,T,T)",0.0000(T),0.523,4.030226,4.37,4.37,0.485000,2.267000,6.346000,0.859000,0.197000,1.000000,17.1534
missense_variant,SVIL,MISSENSE,NM_021738.2:p.Val1041Leu/c.3121G>T,Gtg/Ttg,MODERATE,,0.151757,0.001,rs7070135,0.38(T),"0.009,0.003(B,B)",0.805(L),-0.9006(T),,chr10,29812422,29812422,C,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val615Leu/c.1843G>T|1788|SVIL|protein_coding|CODING|NM_003174.3|13|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val1041Leu/c.3121G>T|2214|SVIL|protein_coding|CODING|NM_021738.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.181,0.1398,0.0885,0.14,0.26,0.08,,0.986043(N),0.972(P),"2.79,2.84,2.84(T,T,T)",0.0000(T),0.04,1.291465,5.01,0.757,0.557000,0.193000,0.117000,0.959000,0.026000,0.147000,2.9923
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Arg981Arg/c.2941C>A,Cga/Aga,LOW,COSM1347520(1),0.382388,0.0804,rs7070678,,,,,,chr10,29812602,29812602,G,T,het,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg555Arg/c.1663C>A|1788|SVIL|protein_coding|CODING|NM_003174.3|13|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg981Arg/c.2941C>A|2214|SVIL|protein_coding|CODING|NM_021738.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.364,0.438,0.4284,0.46,0.55,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Ala607Ala/c.1821C>T,gcC/gcT,LOW,,0.0583067,0,rs41284748,,,,,,chr10,29821475,29821475,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala607Ala/c.1821C>T|2214|SVIL|protein_coding|CODING|NM_021738.2|8|1),intron_variant(MODIFIER|||c.828-1258C>T|1788|SVIL|protein_coding|CODING|NM_003174.3|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0583,0.1138,0.1044,0.07,0.04,0.08,,,,,,,,,,,,,,,,
missense_variant,SVIL,MISSENSE,NM_021738.2:p.Val422Ile/c.1264G>A,Gtc/Atc,MODERATE,,0.993211,1,rs1247696,,0.0(B),-2.075(N),-0.9999(T),,chr10,29822032,29822032,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val422Ile/c.1264G>A|2214|SVIL|protein_coding|CODING|NM_021738.2|8|1),intron_variant(MODIFIER|||c.828-1815G>A|1788|SVIL|protein_coding|CODING|NM_003174.3|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9949,0.9885,0.9791,0.99,1.00,0.98,,0.253530(N),1.000(P),"2.89,2.89(T,T)",0.0000(T),0.033,-2.097935,5.77,0.74,-1.781000,-0.373000,0.170000,0.003000,0.008000,0.001000,11.7228
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Tyr185Tyr/c.555T>C,taT/taC,LOW,COSM146921(2),0.157947,0.1637,rs17834991,,,,,,chr10,29839798,29839798,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr185Tyr/c.555T>C|1788|SVIL|protein_coding|CODING|NM_003174.3|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr185Tyr/c.555T>C|2214|SVIL|protein_coding|CODING|NM_021738.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1708,0.2839,0.2147,0.16,0.06,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SVIL,SILENT,NM_021738.2:p.Ala163Ala/c.489T>G,gcT/gcG,LOW,,0.727835,0.8224,rs1270874,,,,,,chr10,29839864,29839864,A,C,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala163Ala/c.489T>G|1788|SVIL|protein_coding|CODING|NM_003174.3|8|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala163Ala/c.489T>G|2214|SVIL|protein_coding|CODING|NM_021738.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.773,0.7075,0.7286,0.70,0.66,0.72,,,,,,,,,,,,,,,,
missense_variant,KIAA1462,MISSENSE,NM_020848.2:p.Arg957Gly/c.2869A>G,Aga/Gga,MODERATE,,0.337061,0.3036,rs2185724,0.24(T),0.009(B),0.11(N),-0.9541(T),,chr10,30316208,30316208,T,C,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg957Gly/c.2869A>G|1359|KIAA1462|protein_coding|CODING|NM_020848.2|3|1),"NHEK:CTCF,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:Cmyc,HMEC:CTCF,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:CTCF,CD4:H3K4ac,HUVEC:H3K4me1,CD4:H3K4me2,HUVEC:H3K27ac,HMEC:DNase1,HepG2:H3K27me3,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.2577,0.2968,0.4334,0.41,0.38,0.42,,0.735961(N),1.000(P),2.6(T),0.0000(T),0.031,1.705407,5.62,-11.2,0.460000,-3.245000,-0.378000,0.004000,0.000000,0.000000,5.8512
synonymous_variant,KIAA1462,SILENT,NM_020848.2:p.Ala735Ala/c.2205A>G,gcA/gcG,LOW,,0.211262,0.2242,rs3739996,,,,,,chr10,30316872,30316872,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala735Ala/c.2205A>G|1359|KIAA1462|protein_coding|CODING|NM_020848.2|3|1),"CD4:H2BK20ac,GM12878:H3K36me3,HUVEC:H3K9ac,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.1268,0.2406,0.3897,0.29,0.13,0.38,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1462,SILENT,NM_020848.2:p.Tyr417Tyr/c.1251T>C,taT/taC,LOW,COSM3997938(3),0.533347,0.3413,rs7920682,,,,,,chr10,30317826,30317826,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr417Tyr/c.1251T>C|1359|KIAA1462|protein_coding|CODING|NM_020848.2|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HUVEC:H3K4me1,HSMM:H3K27me3,HUVEC:H3K27ac",,,,0.3732,0.3847,0.4841,0.59,0.84,0.48,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1462,SILENT,NM_020848.2:p.Pro413Pro/c.1239T>C,ccT/ccC,LOW,COSM3997939(3),0.523363,0.3413,rs7920686,,,,,,chr10,30317838,30317838,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro413Pro/c.1239T>C|1359|KIAA1462|protein_coding|CODING|NM_020848.2|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HUVEC:H3K4me1,HSMM:H3K27me3,HUVEC:H3K27ac",,,,0.3855,0.3833,0.4841,0.59,0.82,0.48,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1462,SILENT,NM_020848.2:p.Pro20Pro/c.60A>G,ccA/ccG,LOW,,0.0171725,0.0089,rs138575264,,,,,,chr10,30336682,30336682,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro20Pro/c.60A>G|1359|KIAA1462|protein_coding|CODING|NM_020848.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM06990:DNase1",,,,0.0665,0.0101,0.005,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,MTPAP,MISSENSE,NM_018109.3:p.Arg162Cys/c.484C>T,Cgc/Tgc,MODERATE,COSM3751712(1),0.21845,0.2103,rs1047991,0.07(T),"0.001,0.004,0.001(B,B,B)",0(N),-1.0545(T),,chr10,30629226,30629226,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg162Cys/c.484C>T|582|MTPAP|protein_coding|CODING|NM_018109.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117635.2|RCV000126859.1,,0.2986,0.121,0.2495,0.26,0.21,0.29,,0.001365(N),1.000(P),"2.02,2.02,2.02,0.9(T,T,T,T)",0.0000(T),0.052,0.684719,5.08,-10.2,-3.879000,-4.256000,-3.273000,0.000000,0.000000,0.000000,5.5208
synonymous_variant,MAP3K8,SILENT,NM_001244134.1:p.Tyr78Tyr/c.234T>C,taT/taC,LOW,COSM3751713(2),0.352835,0.3492,rs1042058,,,,,,chr10,30728101,30728101,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr78Tyr/c.234T>C|467|MAP3K8|protein_coding|CODING|NM_001244134.1|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr78Tyr/c.234T>C|467|MAP3K8|protein_coding|CODING|NM_005204.3|3|1)","H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Inflammatory_bowel_disease,,,0.3252,0.5187,0.6044,0.45,0.16,0.60,,,,,,,,,,,,,,,,
synonymous_variant,LYZL2,SILENT,NM_183058.2:p.Asn170Asn/c.510C>T,aaC/aaT,LOW,COSM3997945(2),0.367612,0.2639,rs9954,,,,,,chr10,30901756,30901756,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn170Asn/c.510C>T|194|LYZL2|protein_coding|CODING|NM_183058.2|4|1),"GM12878:H3K27me3,HepG2:H3K27ac",,,,0.2853,0.4063,0.5527,0.51,0.41,0.56,,,,,,,,,,,,,,,,
start_lost,ZNF438,MISSENSE,NM_001143770.1:p.Met1?/c.1A>G,Atg/Gtg,HIGH,COSM3751716(1),0.165136,0.0655,rs16932010,0.07(T),0.001(B),,-0.9073(T),ZNF438:0.25(8);,chr10,31146615,31146615,T,C,het,"start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|818|ZNF438|protein_coding|CODING|NM_001143770.1|7|1),start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|818|ZNF438|protein_coding|CODING|NM_001143771.1|6|1),intron_variant(MODIFIER|||c.-110-7319A>G|779|ZNF438|protein_coding|CODING|NM_001143769.1|6|1),intron_variant(MODIFIER|||c.38-7319A>G|828|ZNF438|protein_coding|CODING|NM_001143766.1|6|1),intron_variant(MODIFIER|||c.38-7319A>G|828|ZNF438|protein_coding|CODING|NM_001143767.1|4|1),intron_variant(MODIFIER|||c.38-7319A>G|828|ZNF438|protein_coding|CODING|NM_001143768.1|5|1),intron_variant(MODIFIER|||c.38-7319A>G|828|ZNF438|protein_coding|CODING|NM_182755.2|6|1),intron_variant(MODIFIER|||n.334-7319A>G||ZNF438||CODING|NR_026560.1|4|1)","HSMM:DNase1,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.0777,0.1369,0.1819,0.22,0.30,0.19,,,0.000(P),"3.08,3.08,3.08(T,T,T)",0.0000(T),0.09,2.130121,3.45,-3.72,-0.254000,-0.762000,-2.174000,0.963000,0.001000,0.000000,5.5315
missense_variant,CCDC7,MISSENSE,NM_024688.2:p.Ile39Val/c.115A>G,Ata/Gta,MODERATE,,0.916534,1,rs1762526,1(T),"0.0,0.0,0.0(B,B,B)",-1.1(N),-0.9666(T),,chr10,32974969,32974969,A,G,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile39Val/c.115A>G|628|CCDC7|protein_coding|CODING|NM_024688.2|4|1),CD4:H3K36me3,,,,1,0.9539,0.997,0.91,0.74,1.00,,,1.000(P),"1.71,1.68,1.72,1.69(T,T,T,T)",0.0000(T),0.038,-2.228445,3.19,-1.15,-1.110000,-0.548000,0.000000,0.001000,0.000000,0.000000,0.5244
synonymous_variant,CCDC7,SILENT,NM_024688.2:p.Thr264Thr/c.792G>C,acG/acC,LOW,,0.916534,1,rs1414548,,,,,,chr10,33018351,33018351,G,C,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr264Thr/c.792G>C|628|CCDC7|protein_coding|CODING|NM_024688.2|10|1),,,,,1,0.9539,0.997,0.91,0.75,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CCDC7,SILENT,NM_024688.2:p.Asn371Asn/c.1113T>C,aaT/aaC,LOW,COSM3751743(1),0.21905,0.0962,rs11009107,,,,,,chr10,33123774,33123774,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn371Asn/c.1113T>C|628|CCDC7|protein_coding|CODING|NM_024688.2|14|1),,,,,0.2945,0.3127,0.4642,0.35,0.10,0.48,,,,,,,,,,,,,,,,
missense_variant,CCDC7,MISSENSE,NM_024688.2:p.Gly388Ala/c.1163G>C,gGa/gCa,MODERATE,,0.983626,1,rs4448627,0.84(T),"0.0,0.001,0.0(B,B,B)",-0.205(N),-1.0022(T),,chr10,33123824,33123824,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly388Ala/c.1163G>C|628|CCDC7|protein_coding|CODING|NM_024688.2|14|1),splice_region_variant(LOW|||c.1163G>C|628|CCDC7|protein_coding|CODING|NM_024688.2|14|1)",,,,,1,0.9914,1,0.98,0.95,1.00,,,1.000(P),"1.31,1.28,1.29,1.27(T,T,T,T)",0.0000(T),0.014,-2.395615,2.24,-0.987,-0.322000,-0.620000,-1.445000,0.010000,0.003000,0.000000,4.1257
missense_variant,CCDC7,MISSENSE,NM_024688.2:p.Met510Thr/c.1529T>C,aTg/aCg,MODERATE,,0.220447,0.0952,rs2504011,0.27(T),"0.119,0.181,0.119(B,B,B)",1.5(L),-0.9415(T),,chr10,33137551,33137551,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met510Thr/c.1529T>C|628|CCDC7|protein_coding|CODING|NM_024688.2|19|1),,,,,0.2986,0.3141,0.4642,0.35,0.11,0.48,,,1.000(P),"1.7,1.69,1.69,1.69(T,T,T,T)",0.0000(T),0.148,-0.122070,3.18,-3.16,0.402000,-0.623000,-1.441000,0.067000,0.000000,0.000000,0.7511
missense_variant,CCDC7,MISSENSE,NM_024688.2:p.Val607Ile/c.1819G>A,Gtt/Att,MODERATE,,0.983626,1,rs1418538,1(T),"0.0,0.0,0.0(B,B,B)",-0.205(N),-0.9953(T),,chr10,33143396,33143396,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val607Ile/c.1819G>A|628|CCDC7|protein_coding|CODING|NM_024688.2|21|1),,,,,1,0.9914,1,0.98,0.95,1.00,,,1.000(P),"1.63,1.62,1.61,1.61(T,T,T,T)",0.0000(T),0.034,-2.218708,3.48,-6.95,-1.177000,-3.903000,-1.815000,0.000000,0.000000,0.000000,2.5256
synonymous_variant,ITGB1,SILENT,NM_033668.2:p.Gly392Gly/c.1176C>A,ggC/ggA,LOW,,0.784545,0.6885,rs2230396,,,,,,chr10,33209266,33209266,G,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly392Gly/c.1176C>A|798|ITGB1|protein_coding|CODING|NM_002211.3|10|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly392Gly/c.1176C>A|801|ITGB1|protein_coding|CODING|NM_033668.2|9|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly392Gly/c.1176C>A|798|ITGB1|protein_coding|CODING|NM_133376.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8742,0.8963,0.8767,0.83,0.68,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ITGB1,SILENT,NM_033668.2:p.Cys261Cys/c.783T>C,tgT/tgC,LOW,COSM3751748(1),0.15655,0.245,rs2298141,,,,,,chr10,33214802,33214802,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys261Cys/c.783T>C|798|ITGB1|protein_coding|CODING|NM_002211.3|6|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys261Cys/c.783T>C|801|ITGB1|protein_coding|CODING|NM_033668.2|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys261Cys/c.783T>C|798|ITGB1|protein_coding|CODING|NM_133376.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1861,0.1859,0.172,0.14,0.06,0.18,,,,,,,,,,,,,,,,
synonymous_variant,NRP1,SILENT,NM_003873.5:p.Ser865Ser/c.2595T>C,agT/agC,LOW,COSM146924(3),0.424321,0.622,rs1048804,,,,,,chr10,33469181,33469181,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser859Ser/c.2577T>C|917|NRP1|protein_coding|CODING|NM_001244972.1|17|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser858Ser/c.2574T>C|916|NRP1|protein_coding|CODING|NM_001244973.1|17|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser865Ser/c.2595T>C|923|NRP1|protein_coding|CODING|NM_003873.5|17|1),non_coding_exon_variant(MODIFIER|||n.2915T>C||NRP1||CODING|NR_045259.1|16|1)","GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3671,0.2061,0.2455,0.33,0.50,0.24,,,,,,,,,,,,,,,,
synonymous_variant,NRP1,SILENT,NM_003873.5:p.Tyr422Tyr/c.1266C>T,taC/taT,LOW,COSM3751753(1),0.359026,0.623,rs2229935,,,,,,chr10,33510663,33510663,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr422Tyr/c.1266C>T|644|NRP1|protein_coding|CODING|NM_001024628.2|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr422Tyr/c.1266C>T|609|NRP1|protein_coding|CODING|NM_001024629.2|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr422Tyr/c.1266C>T|917|NRP1|protein_coding|CODING|NM_001244972.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr422Tyr/c.1266C>T|916|NRP1|protein_coding|CODING|NM_001244973.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr422Tyr/c.1266C>T|923|NRP1|protein_coding|CODING|NM_003873.5|8|1),non_coding_exon_variant(MODIFIER|||n.1607C>T||NRP1||CODING|NR_045259.1|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3906,0.4337,0.2485,0.25,0.21,0.27,,,,,,,,,,,,,,,,
synonymous_variant,NRP1,SILENT,NM_003873.5:p.Pro387Pro/c.1161C>T,ccC/ccT,LOW,COSM3751755(1),0.359225,0.623,rs2229934,,,,,,chr10,33510768,33510768,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro387Pro/c.1161C>T|644|NRP1|protein_coding|CODING|NM_001024628.2|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro387Pro/c.1161C>T|609|NRP1|protein_coding|CODING|NM_001024629.2|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro387Pro/c.1161C>T|917|NRP1|protein_coding|CODING|NM_001244972.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro387Pro/c.1161C>T|916|NRP1|protein_coding|CODING|NM_001244973.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro387Pro/c.1161C>T|923|NRP1|protein_coding|CODING|NM_003873.5|8|1),non_coding_exon_variant(MODIFIER|||n.1502C>T||NRP1||CODING|NR_045259.1|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3906,0.4337,0.2485,0.25,0.21,0.27,,,,,,,,,,,,,,,,
missense_variant,NRP1,MISSENSE,NM_003873.5:p.Val179Ala/c.536T>C,gTg/gCg,MODERATE,,1,1,rs7079053,1(T),"0.0,0.0,0.004,0.0,0.0,0.0(B,B,B,B,B,B)",-0.535(N),-0.9243(T),,chr10,33552696,33552696,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val179Ala/c.536T>C|644|NRP1|protein_coding|CODING|NM_001024628.2|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val179Ala/c.536T>C|609|NRP1|protein_coding|CODING|NM_001024629.2|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val179Ala/c.536T>C|917|NRP1|protein_coding|CODING|NM_001244972.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val179Ala/c.536T>C|916|NRP1|protein_coding|CODING|NM_001244973.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val179Ala/c.536T>C|923|NRP1|protein_coding|CODING|NM_003873.5|4|1),non_coding_exon_variant(MODIFIER|||n.877T>C||NRP1||CODING|NR_045259.1|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,IMR90:H2BK120ac,HMEC:H3K9ac,HSMM:H3K27ac,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HSMM:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HMEC:DNase1",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),0.000(P),"1.65,1.65,1.65,1.65,1.65,1.65,1.65(T,T,T,T,T,T,T)",0.0000(T),0.321,0.778070,5.76,5.76,-0.119000,1.453000,8.034000,0.968000,0.988000,1.000000,15.0567
synonymous_variant,PARD3,SILENT,NM_019619.3:p.Arg1194Arg/c.3582A>G,cgA/cgG,LOW,COSM427520(1),0.194688,0.003,rs11009651,,,,,,chr10,34408636,34408636,T,C,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1191Arg/c.3573A>G|1353|PARD3|protein_coding|CODING|NM_001184785.1|24|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1178Arg/c.3534A>G|1340|PARD3|protein_coding|CODING|NM_001184786.1|23|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1157Arg/c.3471A>G|1319|PARD3|protein_coding|CODING|NM_001184787.1|23|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1148Arg/c.3444A>G|1310|PARD3|protein_coding|CODING|NM_001184788.1|23|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1111Arg/c.3333A>G|1273|PARD3|protein_coding|CODING|NM_001184789.1|22|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1104Arg/c.3312A>G|1266|PARD3|protein_coding|CODING|NM_001184790.1|22|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1082Arg/c.3246A>G|1244|PARD3|protein_coding|CODING|NM_001184791.1|20|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1194Arg/c.3582A>G|1356|PARD3|protein_coding|CODING|NM_019619.3|24|1)","K562:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1176,0.1945,0.2495,0.28,0.31,0.26,,,,,,,,,,,,,,,,
synonymous_variant,PARD3,SILENT,NM_019619.3:p.Ser889Ser/c.2667G>A,tcG/tcA,LOW,COSM3751759(1),0.54972,0.3919,rs3781128,,,,,,chr10,34620220,34620220,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser886Ser/c.2658G>A|1353|PARD3|protein_coding|CODING|NM_001184785.1|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser873Ser/c.2619G>A|1340|PARD3|protein_coding|CODING|NM_001184786.1|18|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser889Ser/c.2667G>A|1319|PARD3|protein_coding|CODING|NM_001184787.1|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser843Ser/c.2529G>A|1310|PARD3|protein_coding|CODING|NM_001184788.1|18|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser843Ser/c.2529G>A|1273|PARD3|protein_coding|CODING|NM_001184789.1|18|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser799Ser/c.2397G>A|1266|PARD3|protein_coding|CODING|NM_001184790.1|17|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser814Ser/c.2442G>A|1244|PARD3|protein_coding|CODING|NM_001184791.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser886Ser/c.2658G>A|1031|PARD3|protein_coding|CODING|NM_001184792.1|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser855Ser/c.2565G>A|1000|PARD3|protein_coding|CODING|NM_001184793.1|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser843Ser/c.2529G>A|988|PARD3|protein_coding|CODING|NM_001184794.1|18|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser889Ser/c.2667G>A|1356|PARD3|protein_coding|CODING|NM_019619.3|19|1)","HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5736,0.5173,0.4761,0.55,0.70,0.47,,,,,,,,,,,,,,,,
synonymous_variant,PARD3,SILENT,NM_019619.3:p.His287His/c.861C>T,caC/caT,LOW,,0.9998,1,rs2796011,,,,,,chr10,34688287,34688287,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1353|PARD3|protein_coding|CODING|NM_001184785.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1340|PARD3|protein_coding|CODING|NM_001184786.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1319|PARD3|protein_coding|CODING|NM_001184787.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1310|PARD3|protein_coding|CODING|NM_001184788.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1273|PARD3|protein_coding|CODING|NM_001184789.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His243His/c.729C>T|1266|PARD3|protein_coding|CODING|NM_001184790.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His243His/c.729C>T|1244|PARD3|protein_coding|CODING|NM_001184791.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1031|PARD3|protein_coding|CODING|NM_001184792.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1000|PARD3|protein_coding|CODING|NM_001184793.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|988|PARD3|protein_coding|CODING|NM_001184794.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His287His/c.861C>T|1356|PARD3|protein_coding|CODING|NM_019619.3|7|1)","HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CUL2,SILENT,NM_001198778.1:p.Ser656Ser/c.1968G>A,tcG/tcA,LOW,COSM3751760(2),0.283746,0.3125,rs12830,,,,,,chr10,35302705,35302705,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser637Ser/c.1911G>A|745|CUL2|protein_coding|CODING|NM_001198777.1|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser656Ser/c.1968G>A|764|CUL2|protein_coding|CODING|NM_001198778.1|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser650Ser/c.1950G>A|758|CUL2|protein_coding|CODING|NM_001198779.1|19|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser637Ser/c.1911G>A|745|CUL2|protein_coding|CODING|NM_003591.3|19|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3252,0.3314,0.3598,0.28,0.17,0.34,,,,,,,,,,,,,,,,
synonymous_variant,CCNY,SILENT,NM_145012.5:p.Thr75Thr/c.225G>A,acG/acA,LOW,COSM3751761(1),0.457069,0.4266,rs3802509,,,,,,chr10,35772402,35772402,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr21Thr/c.63G>A|287|CCNY|protein_coding|CODING|NM_001282853.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr75Thr/c.225G>A|341|CCNY|protein_coding|CODING|NM_145012.5|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr21Thr/c.63G>A|287|CCNY|protein_coding|CODING|NM_181698.3|4|1),5_prime_UTR_variant(MODIFIER||18060|c.-38G>A|208|CCNY|protein_coding|CODING|NM_001282854.1|2|1),intron_variant(MODIFIER|||c.155-18027G>A|316|CCNY|protein_coding|CODING|NM_001282852.1|1|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.362,0.4539,0.3241,0.42,0.62,0.32,,,,,,,,,,,,,,,,
synonymous_variant,GJD4,SILENT,NM_153368.2:p.Lys172Lys/c.516G>A,aaG/aaA,LOW,COSM4144661(1),0.212061,0.3234,rs595652,,,,,,chr10,35896957,35896957,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys172Lys/c.516G>A|370|GJD4|protein_coding|CODING|NM_153368.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,H1ESC:H3K27me3,HMEC:H3K4me2,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HMEC:H3K4me3",,,,0.2996,0.2651,0.2376,0.17,0.05,0.22,,,,,,,,,,,,,,,,
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Thr125Met/c.374C>T,aCg/aTg,MODERATE,COSM3751764(1),0.0327476,0.0387,rs34042320,0.2(T),0.011(B),0.175(N),-1.0965(T),,chr10,37421199,37421199,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr125Met/c.374C>T|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|4|1),,,,,0.0481,0.0288,0.0517,0.05,0.02,0.06,,,1.000(N),"-0.1,-0.13(T,T)",0.0109(T),0.053,0.545211,2.37,-4.74,-1.036000,-1.230000,-1.683000,0.004000,0.000000,0.000000,0.4082
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Cys426Trp/c.1278T>G,tgT/tgG,MODERATE,,,,rs200315308,0.19(T),0.0(B),-1.355(N),-1.0525(T),,chr10,37433975,37433975,T,G,het,missense_variant(MODERATE|MISSENSE|tgT/tgG|p.Cys426Trp/c.1278T>G|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|8|1),,,,,,,,,,,,,1.000(D),"1.59,1.51(T,T)",0.0188(T),0.277,0.546465,1.13,0.0916,0.076000,0.046000,0.728000,0.301000,0.029000,1.000000,4.2646
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Arg429Gly/c.1285C>G,Cgg/Ggg,MODERATE,,,,rs200974283,0.39(T),0.0(B),-1.245(N),-0.9798(T),,chr10,37433982,37433982,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg429Gly/c.1285C>G|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|8|1),splice_region_variant(LOW|||c.1285C>G|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|8|1)",,,,,,,,,,,,,1.000(N),"1.53,1.46(T,T)",0.0198(T),0.147,-1.510960,1.13,0.096,0.089000,0.050000,0.748000,0.335000,0.055000,1.000000,4.977
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Arg429Leu/c.1286G>T,cGg/cTg,MODERATE,,,,rs200164455,0.31(T),0.081(B),0(N),-1.0197(T),,chr10,37433983,37433983,G,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg429Leu/c.1286G>T|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|8|1),splice_region_variant(LOW|||c.1286G>T|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|8|1)",,,,,,,,,,,,,1.000(N),"1.46,1.39(T,T)",0.0364(T),0.152,0.601894,1.13,-0.116,0.089000,-0.014000,0.637000,0.339000,0.066000,1.000000,3.035
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Lys861Asn/c.2583G>C,aaG/aaC,MODERATE,COSM4144671(1),0.482228,0.3244,rs1209750,0.32(T),0.022(B),1.1(L),-0.9461(T),,chr10,37488689,37488689,G,C,hom,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys861Asn/c.2583G>C|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|30|1),,,,,0.2669,0.5029,0.5875,0.60,0.65,0.57,,,1.000(P),"3.42,3.42(T,T)",0.0000(T),0.034,-1.408058,0.868,-1.74,-2.001000,-3.843000,-0.926000,0.001000,0.000000,0.000000,4.0495
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Val912Ile/c.2734G>A,Gtt/Att,MODERATE,,0.127796,0.0853,rs1200876,0.65(T),0.012(B),0.065(N),-0.9133(T),,chr10,37505141,37505141,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val912Ile/c.2734G>A|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|32|1),,,,,0.089,0.2666,0.2634,0.17,0.04,0.23,,,1.000(P),"2.31,2.31(T,T)",0.0000(T),0.012,-2.086553,2.63,-4.61,-0.698000,-1.702000,-1.533000,0.000000,0.000000,0.000000,9.9166
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Ala918Thr/c.2752G>A,Gca/Aca,MODERATE,,0.227636,0.1558,rs34552277,0.57(T),0.04(B),0.145(N),-0.9369(T),,chr10,37505159,37505159,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala918Thr/c.2752G>A|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|32|1),,,,,0.1053,0.1556,0.2227,0.28,0.39,0.23,,,1.000(P),"3.31,3.31(T,T)",0.0000(T),0.045,-0.803974,2.63,-0.00398,0.313000,-0.250000,-0.375000,0.032000,0.006000,0.021000,3.8812
missense_variant,ANKRD30A,MISSENSE,NM_052997.2:p.Arg929Cys/c.2785C>T,Cgt/Tgt,MODERATE,COSM3786670(2),0.128994,0.0843,rs1200875,0.01(D),0.015(B),0(N),-0.9543(T),,chr10,37505192,37505192,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg929Cys/c.2785C>T|1341|ANKRD30A|protein_coding|CODING|NM_052997.2|32|1),,,,,0.089,0.2666,0.2644,0.17,0.05,0.23,,,1.000(P),"2.29,2.29(T,T)",0.0000(T),0.074,-0.138837,2.63,2.63,0.313000,1.281000,1.096000,0.003000,0.002000,0.002000,10.6339
synonymous_variant,ZNF248,SILENT,NM_001267597.1:p.Pro547Pro/c.1641G>A,ccG/ccA,LOW,,0.0319489,0,rs1208731,,,,,,chr10,38120642,38120642,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro547Pro/c.1641G>A|579|ZNF248|protein_coding|CODING|NM_001267597.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro547Pro/c.1641G>A|579|ZNF248|protein_coding|CODING|NM_021045.2|6|1),intron_variant(MODIFIER|||c.330+1311G>A|122|ZNF248|protein_coding|CODING|NM_001267607.1|6|1),intron_variant(MODIFIER|||c.331-402G>A|119|ZNF248|protein_coding|CODING|NM_001267605.1|6|1),intron_variant(MODIFIER|||c.331-402G>A|119|ZNF248|protein_coding|CODING|NM_001267606.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0648,0.1034,0.06,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,ZNF248,SILENT,NM_001267597.1:p.Lys521Lys/c.1563G>A,aaG/aaA,LOW,,0.0315495,0,rs1779132,,,,,,chr10,38120720,38120720,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys521Lys/c.1563G>A|579|ZNF248|protein_coding|CODING|NM_001267597.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys521Lys/c.1563G>A|579|ZNF248|protein_coding|CODING|NM_021045.2|6|1),intron_variant(MODIFIER|||c.330+1233G>A|122|ZNF248|protein_coding|CODING|NM_001267607.1|6|1),intron_variant(MODIFIER|||c.331-480G>A|119|ZNF248|protein_coding|CODING|NM_001267605.1|6|1),intron_variant(MODIFIER|||c.331-480G>A|119|ZNF248|protein_coding|CODING|NM_001267606.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0648,0.1024,0.06,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,ZNF248,SILENT,NM_001267597.1:p.Cys446Cys/c.1338T>C,tgT/tgC,LOW,,0.0315495,0,rs1211708,,,,,,chr10,38120945,38120945,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys446Cys/c.1338T>C|579|ZNF248|protein_coding|CODING|NM_001267597.1|6|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys446Cys/c.1338T>C|579|ZNF248|protein_coding|CODING|NM_021045.2|6|1),intron_variant(MODIFIER|||c.330+1008T>C|122|ZNF248|protein_coding|CODING|NM_001267607.1|6|1),intron_variant(MODIFIER|||c.331-705T>C|119|ZNF248|protein_coding|CODING|NM_001267605.1|6|1),intron_variant(MODIFIER|||c.331-705T>C|119|ZNF248|protein_coding|CODING|NM_001267606.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0648,0.1024,0.06,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,ZNF25,MISSENSE,NM_145011.2:p.Asn453Lys/c.1359T>G,aaT/aaG,MODERATE,,0.0315495,0,rs1208606,0.02(D),0.0(B),0.465(N),-0.9220(T),,chr10,38241067,38241067,A,C,het,missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn453Lys/c.1359T>G|456|ZNF25|protein_coding|CODING|NM_145011.2|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0648,0.1024,0.06,0.02,0.09,,0.377442(N),1.000(P),3.61(T),0.0003(T),0.043,-0.537804,4.46,-0.696,-1.078000,-0.512000,.,0.036000,0.000000,.,1.1582
missense_variant,ZNF33A,MISSENSE,NM_001278177.1:p.Gln571Glu/c.1711C>G,Cag/Gag,MODERATE,,0.477037,0.5754,rs2505232,1(T),"0.0,0.0,0.0(B,B,B)",-1.19(N),-0.9383(T),,chr10,38344700,38344700,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln438Glu/c.1312C>G|699|ZNF33A|protein_coding|CODING|NM_001278171.1|6|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln568Glu/c.1702C>G|829|ZNF33A|protein_coding|CODING|NM_001278173.1|6|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln438Glu/c.1312C>G|699|ZNF33A|protein_coding|CODING|NM_001278174.1|6|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln472Glu/c.1414C>G|733|ZNF33A|protein_coding|CODING|NM_001278175.1|6|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln507Glu/c.1519C>G|768|ZNF33A|protein_coding|CODING|NM_001278176.1|6|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln571Glu/c.1711C>G|832|ZNF33A|protein_coding|CODING|NM_001278177.1|5|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln438Glu/c.1312C>G|699|ZNF33A|protein_coding|CODING|NM_001278178.1|5|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln550Glu/c.1648C>G|811|ZNF33A|protein_coding|CODING|NM_006954.1|5|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln556Glu/c.1666C>G|817|ZNF33A|protein_coding|CODING|NM_001278170.1|4|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln438Glu/c.1312C>G|699|ZNF33A|protein_coding|CODING|NM_001278179.1|6|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln549Glu/c.1645C>G|810|ZNF33A|protein_coding|CODING|NM_006974.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2628,0.5173,0.493,0.49,0.51,0.48,,0.002514(N),1.000(P),"2.75,2.75,2.75,2.75(T,T,T,T)",0.0000(T),0.125,-2.414126,1.68,1.68,-0.676000,0.044000,4.342000,0.105000,0.973000,1.000000,7.6052
missense_variant,ZNF33A,MISSENSE,NM_001278177.1:p.Asp826His/c.2476G>C,Gat/Cat,MODERATE,,0.0317492,0,rs10508862,0.04(D),"0.025,0.011,0.025(B,B,B)",0(N),-0.9302(T),,chr10,38345465,38345465,G,C,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp693His/c.2077G>C|699|ZNF33A|protein_coding|CODING|NM_001278171.1|6|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp823His/c.2467G>C|829|ZNF33A|protein_coding|CODING|NM_001278173.1|6|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp693His/c.2077G>C|699|ZNF33A|protein_coding|CODING|NM_001278174.1|6|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp727His/c.2179G>C|733|ZNF33A|protein_coding|CODING|NM_001278175.1|6|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp762His/c.2284G>C|768|ZNF33A|protein_coding|CODING|NM_001278176.1|6|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp826His/c.2476G>C|832|ZNF33A|protein_coding|CODING|NM_001278177.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp693His/c.2077G>C|699|ZNF33A|protein_coding|CODING|NM_001278178.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp805His/c.2413G>C|811|ZNF33A|protein_coding|CODING|NM_006954.1|5|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp811His/c.2431G>C|817|ZNF33A|protein_coding|CODING|NM_001278170.1|4|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp693His/c.2077G>C|699|ZNF33A|protein_coding|CODING|NM_001278179.1|6|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp804His/c.2410G>C|810|ZNF33A|protein_coding|CODING|NM_006974.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0648,0.1034,0.06,0.02,0.09,,,1.000(P),"3.3,3.29,3.29,3.29(T,T,T,T)",0.0003(T),0.105,-0.838757,2.14,-1.36,-0.657000,-0.196000,-0.229000,0.003000,0.003000,0.037000,2.3013
synonymous_variant,ZNF37A,SILENT,NM_001007094.2:p.Ser480Ser/c.1440A>G,tcA/tcG,LOW,,0.46905,0.5595,rs176889,,,,,,chr10,38407519,38407519,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser480Ser/c.1440A>G|561|ZNF37A|protein_coding|CODING|NM_001007094.2|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser480Ser/c.1440A>G|561|ZNF37A|protein_coding|CODING|NM_001178101.1|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser480Ser/c.1440A>G|561|ZNF37A|protein_coding|CODING|NM_003421.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2883,0.513,0.4901,0.50,0.51,0.49,,,,,,,,,,,,,,,,
missense_variant,ZNF33B,MISSENSE,NM_006955.1:p.Arg145Cys/c.433C>T,Cgt/Tgt,MODERATE,,0.727037,0.873,rs210280,0.74(T),0.0(B),-1.7(N),-1.0327(T),,chr10,43089965,43089965,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg145Cys/c.433C>T|778|ZNF33B|protein_coding|CODING|NM_006955.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.6902,0.7767,0.835,0.77,0.62,0.85,,0.581834(N),1.000(P),3.51(T),0.0000(T),0.046,-0.967615,2.14,-0.499,-0.970000,-0.496000,-0.232000,0.001000,0.000000,0.118000,3.6316
synonymous_variant,BMS1,SILENT,NM_014753.3:p.Thr112Thr/c.336T>C,acT/acC,LOW,COSM3931014(1),0.561102,0.6359,rs7074877,,,,,,chr10,43281089,43281089,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr112Thr/c.336T>C|1282|BMS1|protein_coding|CODING|NM_014753.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.589,0.4899,0.4185,0.46,0.60,0.39,,,,,,,,,,,,,,,,
synonymous_variant,RET,SILENT,NM_020975.4:p.Ala45Ala/c.135A>G,gcA/gcG,LOW,COSM4144677(1),0.753594,0.5268,rs1800858,,,,,,chr10,43595968,43595968,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala45Ala/c.135A>G|1072|RET|protein_coding|CODING|NM_020630.4|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala45Ala/c.135A>G|1114|RET|protein_coding|CODING|NM_020975.4|2|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000014967.1|RCV000127776.1,,0.6943,0.7493,0.7435,0.81,0.95,0.74,,,,,,,,,,,,,,,,
synonymous_variant,RET,SILENT,NM_020975.4:p.Ala432Ala/c.1296A>G,gcA/gcG,LOW,,0.77516,0.8006,rs1800860,,,,,,chr10,43606687,43606687,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala432Ala/c.1296A>G|1072|RET|protein_coding|CODING|NM_020630.4|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala432Ala/c.1296A>G|1114|RET|protein_coding|CODING|NM_020975.4|7|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000082048.1|RCV000127778.1|RCV000131068.1,,0.7536,0.6239,0.7237,0.75,0.86,0.69,,,,,,,,,,,,,,,,
synonymous_variant,RET,SILENT,NM_020975.4:p.Leu769Leu/c.2307G>T,ctG/ctT,LOW,,0.71246,0.4742,rs1800861,,,,,,chr10,43613843,43613843,G,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu769Leu/c.2307G>T|1072|RET|protein_coding|CODING|NM_020630.4|13|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu769Leu/c.2307G>T|1114|RET|protein_coding|CODING|NM_020975.4|13|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000021844.1|RCV000127779.1,,0.5982,0.7478,0.7644,0.80,0.88,0.77,,,,,,,,,,,,,,,,
missense_variant,CSGALNACT2,MISSENSE,NM_018590.4:p.Pro479Ser/c.1435C>T,Cct/Tct,MODERATE,,0.158546,0.1974,rs2435381,0.16(T),0.084(B),1.225(L),-1.0188(T),,chr10,43678796,43678796,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro479Ser/c.1435C>T|542|CSGALNACT2|protein_coding|CODING|NM_018590.4|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1708,0.1945,0.2644,0.20,0.07,0.27,,0.000004(N),0.000(P),1.63(T),0.0000(T),0.073,2.324034,5.87,5.87,0.655000,2.941000,2.883000,0.989000,1.000000,0.941000,20.5827
splice_acceptor_variant,FXYD4,protein_coding,NM_001184963.1:c.1C>A,,HIGH,,0.379393,0.4256,rs10899795,,,,,FXYD4:0.50(2);,chr10,43869097,43869097,C,A,het,"splice_acceptor_variant(HIGH|||c.1C>A|89|FXYD4|protein_coding|CODING|NM_001184963.1|3|1),5_prime_UTR_variant(MODIFIER||98|c.-98C>A|89|FXYD4|protein_coding|CODING|NM_173160.2|3|1),intron_variant(MODIFIER|||c.-96-2C>A|89|FXYD4|protein_coding|CODING|NM_001184963.1|2|1)","HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3548,0.255,0.2197,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF239,MISSENSE,NM_001099282.1:p.Cys209Gly/c.625T>G,Tgt/Ggt,MODERATE,COSM3751783(1),0.544928,0.5506,rs2230661,0.01(D),0.991(D),3.895(H),-0.9614(T),,chr10,44052903,44052903,A,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys209Gly/c.625T>G|458|ZNF239|protein_coding|CODING|NM_001099282.1|4|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys209Gly/c.625T>G|458|ZNF239|protein_coding|CODING|NM_001099283.1|2|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys209Gly/c.625T>G|458|ZNF239|protein_coding|CODING|NM_001099284.1|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys209Gly/c.625T>G|458|ZNF239|protein_coding|CODING|NM_005674.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.6483,0.513,0.5308,0.53,0.53,0.53,,,0.157(P),"-0.97,-0.97,-0.97,-0.97(T,T,T,T)",0.0000(T),0.314,1.920041,4.01,2.88,0.533000,0.900000,4.452000,0.008000,0.152000,0.998000,7.2808
missense_variant,ZNF239,MISSENSE,NM_001099282.1:p.Ala172Gly/c.515C>G,gCt/gGt,MODERATE,COSM3751784(1),,,rs2230660,0.02(D),0.118(B),1.15(L),-0.9919(T),,chr10,44053013,44053013,G,C,het,"missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala172Gly/c.515C>G|458|ZNF239|protein_coding|CODING|NM_001099282.1|4|1),missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala172Gly/c.515C>G|458|ZNF239|protein_coding|CODING|NM_001099283.1|2|1),missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala172Gly/c.515C>G|458|ZNF239|protein_coding|CODING|NM_001099284.1|3|1),missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala172Gly/c.515C>G|458|ZNF239|protein_coding|CODING|NM_005674.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,,,,0.53,0.53,0.54,,,1.000(P),"3.31,3.31,3.31,3.31(T,T,T,T)",0.0000(T),0.053,2.569341,4.3,0.271,-0.140000,0.051000,-0.510000,0.002000,0.000000,0.000000,4.3439
missense_variant,ZNF485,MISSENSE,NM_145312.3:p.Arg22Trp/c.64C>T,Cgg/Tgg,MODERATE,,0.0623003,0.0119,rs45545532,0.12(T),0.001(B),-0.265(N),-0.9261(T),,chr10,44104101,44104101,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg22Trp/c.64C>T|441|ZNF485|protein_coding|CODING|NM_145312.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0501,0.0865,0.1163,0.12,0.07,0.14,,,1.000(P),"4.58,4.58,4.58(T,T,T)",0.0000(T),0.369,2.199318,2.96,2.04,0.462000,0.567000,-0.817000,0.921000,0.015000,0.000000,4.2694
synonymous_variant,ZNF485,SILENT,NM_145312.3:p.Leu105Leu/c.315G>A,ctG/ctA,LOW,COSM3751787(1),0.303315,0.0417,rs10899839,,,,,,chr10,44111806,44111806,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu105Leu/c.315G>A|441|ZNF485|protein_coding|CODING|NM_145312.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3057,0.2954,0.2654,0.37,0.52,0.30,,,,,,,,,,,,,,,,
synonymous_variant,TMEM72,SILENT,NM_001123376.1:p.Ala236Ala/c.708C>T,gcC/gcT,LOW,COSM3997970(1),0.333466,0.3274,rs17417442,,,,,,chr10,45430462,45430462,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala236Ala/c.708C>T|275|TMEM72|protein_coding|CODING|NM_001123376.1|5|1),intron_variant(MODIFIER|||n.99-11788G>A||TMEM72-AS1||NON_CODING|NR_033842.1|1|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.228,0.4438,0.3986,0.39,0.33,0.42,,,,,,,,,,,,,,,,
missense_variant,C10orf25,MISSENSE,NM_001039380.2:p.Ile63Asn/c.188T>A,aTt/aAt,MODERATE,,0.460463,0.371,rs12269028,0(D),0.654(P),0(N),-0.9339(T),,chr10,45496120,45496120,A,T,hom,"missense_variant(MODERATE|MISSENSE|aTt/aAt|p.Ile63Asn/c.188T>A|122|C10orf25|protein_coding|CODING|NM_001039380.2|1|1),upstream_gene_variant(MODIFIER||153||224|ZNF22|protein_coding|CODING|NM_006963.4||1)","K562:ZBTB7A,CD4:H2AZ,K562:Max,HSMM:H2AZ,CD4:H3K18ac,IMR90:H3K9ac,K562:H3K27ac,HUVEC:H3K4me3,CD4:H4K91ac,HSMM:H3K27ac,HSMM:H3K4me2,HUVEC:H3K9ac,IMR90:H4K5ac,H1ESC:H3K27me3,GM12878:ELF1,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,IMR90:H3K27ac,K562:H3K9ac,IMR90:H4K91ac,CD4:H4K5ac,HUVEC:H3K27ac,HSMM:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,K562:H2AZ,GM12878:H2AZ,IMR90:H4K8ac",,,,0.5051,0.6945,0.6571,0.54,0.33,0.65,,,1.000(P),1.12(T),0.0000(T),0.331,0.210400,2.81,-2.84,-0.371000,-0.646000,0.246000,0.002000,0.000000,0.000000,3.2317
synonymous_variant,ALOX5,SILENT,NM_000698.3:p.Pro576Pro/c.1728A>G,ccA/ccG,LOW,,0.0866613,0.0536,rs2229136,,,,,,chr10,45939617,45939617,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro576Pro/c.1728A>G|674|ALOX5|protein_coding|CODING|NM_000698.3|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro544Pro/c.1632A>G|642|ALOX5|protein_coding|CODING|NM_001256153.1|13|1),downstream_gene_variant(MODIFIER||399|||LOC102724323||NON_CODING|NR_120674.1||1),intron_variant(MODIFIER|||c.1674+341A>G|617|ALOX5|protein_coding|CODING|NM_001256154.1|12|1)","HeLa-S3:Ap2alpha,HepG2:H3K27me3",,,,0.0235,0.0519,0.0785,0.09,0.15,0.05,,,,,,,,,,,,,,,,
missense_variant,MARCH8,MISSENSE,NM_001282866.1:p.Tyr548His/c.1642T>C,Tat/Cat,MODERATE,COSM3997971(1),0.302915,0.1706,rs7908745,,,0(N),-0.9167(T),,chr10,45953767,45953767,A,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr266His/c.796T>C|291|MARCH8|protein_coding|CODING|NM_001002266.2|7|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr548His/c.1642T>C|573|MARCH8|protein_coding|CODING|NM_001282866.1|8|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr266His/c.796T>C|291|MARCH8|protein_coding|CODING|NM_145021.5|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2996,0.3703,0.3529,0.32,0.35,0.30,,,1.000(P),,0.0000(T),.,0.498336,5.67,0.455,-0.119000,-0.157000,2.648000,0.945000,0.004000,0.987000,5.5414
missense_variant,MARCH8,MISSENSE,NM_001282866.1:p.Pro374Ser/c.1120C>T,Ccc/Tcc,MODERATE,,0.038139,0.0536,rs3764990,,,2.44(M),-1.0283(T),,chr10,45956828,45956828,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro92Ser/c.274C>T|291|MARCH8|protein_coding|CODING|NM_001002266.2|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro374Ser/c.1120C>T|573|MARCH8|protein_coding|CODING|NM_001282866.1|6|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro92Ser/c.274C>T|291|MARCH8|protein_coding|CODING|NM_145021.5|5|1)","GM12878:H3K27ac,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:ELF1,GM12878:Yy1,IMR90:H3K36me3,GM12878:MEF2A,GM12878:PolII,NHEK:H3K36me3,GM12878:Rad21,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:Max,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.0225,0.0288,0.0785,0.05,0.02,0.06,,0.000000(D),0.000(P),,0.0204(T),.,3.565392,5.65,5.65,0.609000,2.831000,7.927000,0.991000,1.000000,1.000000,17.5847
synonymous_variant,MARCH8,SILENT,NM_001282866.1:p.Ser337Ser/c.1011C>T,agC/agT,LOW,,0.033746,0.0546,rs17157825,,,,,,chr10,45958676,45958676,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser337Ser/c.1011C>T|573|MARCH8|protein_coding|CODING|NM_001282866.1|5|1),intron_variant(MODIFIER|||c.242+1011C>T|291|MARCH8|protein_coding|CODING|NM_001002266.2|4|1),intron_variant(MODIFIER|||c.242+1011C>T|291|MARCH8|protein_coding|CODING|NM_145021.5|4|1)","GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.0225,0.0274,0.0646,,,,,,1.000(D),,,.,0.935395,5.79,-0.844,-0.742000,-0.075000,0.514000,0.975000,0.998000,0.996000,10.9286
missense_variant,MARCH8,MISSENSE,NM_001282866.1:p.Leu269Ser/c.806T>C,tTg/tCg,MODERATE,,0.0499201,0.0536,rs2291429,,,,,,chr10,45958881,45958881,A,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu269Ser/c.806T>C|573|MARCH8|protein_coding|CODING|NM_001282866.1|5|1),intron_variant(MODIFIER|||c.242+806T>C|291|MARCH8|protein_coding|CODING|NM_001002266.2|4|1),intron_variant(MODIFIER|||c.242+806T>C|291|MARCH8|protein_coding|CODING|NM_145021.5|4|1)","GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.0225,0.0317,0.0785,,,,,,,,,,,,,,,,,,,
missense_variant,MARCH8,MISSENSE,NM_001282866.1:p.Ser101Leu/c.302C>T,tCg/tTg,MODERATE,,0.0499201,0.0536,rs12769244,,,,,,chr10,45959385,45959385,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser101Leu/c.302C>T|573|MARCH8|protein_coding|CODING|NM_001282866.1|5|1),intron_variant(MODIFIER|||c.242+302C>T|291|MARCH8|protein_coding|CODING|NM_001002266.2|4|1),intron_variant(MODIFIER|||c.242+302C>T|291|MARCH8|protein_coding|CODING|NM_145021.5|4|1)","GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0317,0.0785,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZFAND4,SILENT,NM_001128324.2:p.Ser706Ser/c.2118T>C,agT/agC,LOW,,0.0375399,0.0565,rs1060848,,,,,,chr10,46111950,46111950,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser706Ser/c.2118T>C|727|ZFAND4|protein_coding|CODING|NM_001128324.2|10|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser632Ser/c.1896T>C|653|ZFAND4|protein_coding|CODING|NM_001282905.1|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser632Ser/c.1896T>C|653|ZFAND4|protein_coding|CODING|NM_001282906.1|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser706Ser/c.2118T>C|727|ZFAND4|protein_coding|CODING|NM_174890.3|10|1)",,,,,0.0215,0.0231,0.0507,0.03,0.03,0.03,,,,,,,,,,,,,,,,
synonymous_variant,FAM21C,SILENT,NM_015262.2:p.Asp66Asp/c.198C>T,gaC/gaT,LOW,,0.0497204,0.0546,rs17157971,,,,,,chr10,46224381,46224381,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp66Asp/c.198C>T|1279|FAM21C|protein_coding|CODING|NM_001169106.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp66Asp/c.198C>T|1245|FAM21C|protein_coding|CODING|NM_001169107.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp66Asp/c.198C>T|1320|FAM21C|protein_coding|CODING|NM_015262.2|3|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0215,0.0288,0.0507,0.05,0.08,0.03,,,,,,,,,,,,,,,,
missense_variant,FAM21C,MISSENSE,NM_015262.2:p.Gln244Arg/c.731A>G,cAg/cGg,MODERATE,COSM3997974(1),,,rs200354637,0.57(T),"0.001,0.002,0.002,0.0(B,B,B,B)",0.315(N),-1.0415(T),,chr10,46242094,46242094,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln244Arg/c.731A>G|1279|FAM21C|protein_coding|CODING|NM_001169106.1|8|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln244Arg/c.731A>G|1245|FAM21C|protein_coding|CODING|NM_001169107.1|8|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln244Arg/c.731A>G|1320|FAM21C|protein_coding|CODING|NM_015262.2|8|1),splice_region_variant(LOW|||c.731A>G|1279|FAM21C|protein_coding|CODING|NM_001169106.1|8|1),splice_region_variant(LOW|||c.731A>G|1245|FAM21C|protein_coding|CODING|NM_001169107.1|8|1),splice_region_variant(LOW|||c.731A>G|1320|FAM21C|protein_coding|CODING|NM_015262.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.01,0.03,0.00,,0.188776(N),0.995(N),,0.0201(T),0.172,-2.466632,3.69,-7.39,-2.856000,-2.499000,-0.952000,0.234000,0.473000,0.195000,9.8874
missense_variant,SYT15,MISSENSE,NM_031912.4:p.Glu309Asp/c.927G>C,gaG/gaC,MODERATE,COSM4144699(1),,,rs3127785,1(T),"0.015,0.009(B,B)",-1.04(N),-1.0624(T),,chr10,46965018,46965018,C,G,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu309Asp/c.927G>C|421|SYT15|protein_coding|CODING|NM_031912.4|6|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu309Asp/c.927G>C|390|SYT15|protein_coding|CODING|NM_181519.2|6|1)","GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,K562:DNase1",,,,,,,0.47,0.45,0.48,,0.070352(N),1.000(P),"0.13,0.13,0.13,0.13,0.13(T,T,T,T,T)",0.0000(T),0.066,-0.506339,5.06,-10.1,0.561000,-2.923000,-3.775000,0.940000,0.000000,0.000000,8.4436
synonymous_variant,SYT15,SILENT,NM_031912.4:p.Ala270Ala/c.810C>T,gcC/gcT,LOW,,,,rs1889849,,,,,,chr10,46965727,46965727,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala270Ala/c.810C>T|421|SYT15|protein_coding|CODING|NM_031912.4|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala270Ala/c.810C>T|390|SYT15|protein_coding|CODING|NM_181519.2|5|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,K562:DNase1",,,,,,,0.52,0.54,0.51,,,,,,,,,,,,,,,,
synonymous_variant,SYT15,SILENT,NM_031912.4:p.Pro135Pro/c.405G>A,ccG/ccA,LOW,COSM4144701(1),,,rs2152530,,,,,,chr10,46967672,46967672,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro135Pro/c.405G>A|421|SYT15|protein_coding|CODING|NM_031912.4|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro135Pro/c.405G>A|390|SYT15|protein_coding|CODING|NM_181519.2|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,K562:DNase1",,,,,,,0.54,0.59,0.52,,,,,,,,,,,,,,,,
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Arg5His/c.14G>A,cGc/cAc,MODERATE,COSM427578(3),,,rs3127817,0.42(T),0.002(B),0.51(N),-0.9167(T),,chr10,46998894,46998894,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg5His/c.14G>A|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,,,,,,,,0.834916(N),1.000(N),"4.04,4.04(T,T)",0.0000(T),0.062,0.204450,5.33,-10.4,-0.121000,-1.831000,-1.881000,0.685000,0.436000,0.000000,5.0788
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Leu39Val/c.115C>G,Ctc/Gtc,MODERATE,COSM3751793(10),,,rs4926045,0.02(D),0.545(P),2.125(M),-0.9646(T),,chr10,46998995,46998995,C,G,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu39Val/c.115C>G|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.096305(N),0.827(N),"3.19,3.19(T,T)",0.0000(T),0.301,2.252220,5.44,4.53,0.655000,1.447000,1.663000,0.281000,0.734000,1.000000,10.5533
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Arg40His/c.119G>A,cGc/cAc,MODERATE,COSM1560780(5),,,rs3127818,0.12(T),0.025(B),1.155(L),-0.8731(T),,chr10,46998999,46998999,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg40His/c.119G>A|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.045669(N),0.970(N),"3.18,3.18(T,T)",0.0000(T),0.082,1.410753,5.44,0.466,-0.181000,-0.022000,0.187000,0.226000,0.260000,0.010000,5.8237
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Val47Met/c.139G>A,Gtg/Atg,MODERATE,COSM1560779(4),,,rs3127819,0.1(T),0.882(P),1.995(M),-1.0624(T),,chr10,46999019,46999019,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val47Met/c.139G>A|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.018643(N),1.000(N),"3.27,3.27(T,T)",0.0000(T),0.374,3.977383,5.43,5.43,0.650000,2.723000,2.595000,0.967000,0.128000,0.336000,15.1094
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Ala50Ala/c.150C>T,gcC/gcT,LOW,COSM1560778(11),,,rs4925989,,,,,,chr10,46999030,46999030,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala50Ala/c.150C>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Trp91Arg/c.271T>C,Tgg/Cgg,MODERATE,COSM3747184(5),,,rs3127820,1(T),0.0(B),-2.015(N),-0.9159(T),,chr10,46999151,46999151,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp91Arg/c.271T>C|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.016148(N),1.000(N),"4.16,4.16(T,T)",0.0021(T),0.143,-0.622628,5.47,1.98,-0.128000,0.330000,-0.664000,0.921000,0.997000,0.000000,6.6474
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Thr100Pro/c.298A>C,Acc/Ccc,MODERATE,COSM427579(5),,,rs7090312,0.14(T),0.004(B),2.015(M),-0.9561(T),,chr10,46999178,46999178,A,C,het,missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr100Pro/c.298A>C|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.388285(N),1.000(N),"3.86,3.86(T,T)",0.0111(T),0.475,2.481989,5.57,-1.01,0.528000,0.152000,0.003000,0.978000,0.005000,0.000000,1.1261
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Gly103Gly/c.309C>T,ggC/ggT,LOW,COSM3747185(5),0.49361,0.497,rs3127678,,,,,,chr10,46999189,46999189,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly103Gly/c.309C>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4969,0.4942,0.493,,,,,,,,,,,,,,,,,,,
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Ser104Gly/c.310A>G,Agt/Ggt,MODERATE,COSM4144705(1),0.910942,0.9603,rs3127679,1(T),0.001(B),-2.015(N),-1.0433(T),,chr10,46999190,46999190,A,G,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser104Gly/c.310A>G|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9427,0.9352,0.9344,,,,,0.005874(N),1.000(P),"3.96,3.96(T,T)",0.0000(T),0.084,-0.692430,5.11,1.15,-0.128000,0.130000,-0.083000,0.957000,0.122000,0.000000,3.6561
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Leu106Leu/c.318G>T,ctG/ctT,LOW,COSM1285256(4),,,rs3127680,,,,,,chr10,46999198,46999198,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu106Leu/c.318G>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Ser195Ser/c.585A>G,tcA/tcG,LOW,,,,rs3127682,,,,,,chr10,46999465,46999465,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser195Ser/c.585A>G|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Gly202Trp/c.604G>T,Ggg/Tgg,MODERATE,COSM3807216(1),,,rs11204658,0.04(D),0.988(D),1.61(L),-0.9572(T),,chr10,46999484,46999484,G,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly202Trp/c.604G>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.379905(N),1.000(N),"3.88,3.88(T,T)",0.0000(T),0.46,1.633532,5.11,5.11,0.555000,2.564000,1.454000,0.023000,0.008000,0.003000,14.4133
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Ala233Ser/c.697G>T,Gct/Tct,MODERATE,,,,rs11204659,0.57(T),0.346(B),1.95(M),-0.8984(T),,chr10,46999577,46999577,G,T,het,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala233Ser/c.697G>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.44,0.38,0.47,,0.049353(N),1.000(N),"3.8,3.8(T,T)",0.0000(T),0.138,0.995774,5.1,3.22,0.491000,0.647000,1.809000,0.364000,0.009000,0.973000,8.4328
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Arg239Lys/c.716G>A,aGg/aAg,MODERATE,COSM3721972(2),0.39397,0.4663,rs7895979,1(T),0.107(B),1.59(L),-0.9762(T),,chr10,46999596,46999596,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg239Lys/c.716G>A|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4335,0.4366,0.4374,,,,,0.023774(N),1.000(N),"3.85,3.85(T,T)",0.0095(T),0.204,0.353124,5.02,3.13,-0.478000,1.268000,1.717000,0.010000,0.125000,0.998000,8.5902
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Arg242Gly/c.724A>G,Agg/Ggg,MODERATE,COSM3721973(2),0.807308,0.9137,rs3127683,0.82(T),0.0(B),-1.7(N),-0.9374(T),,chr10,46999604,46999604,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg242Gly/c.724A>G|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8364,0.8516,0.8469,,,,,0.011886(N),1.000(N),"4.09,4.09(T,T)",0.0028(T),0.086,-1.935806,5.12,5.12,-0.464000,1.321000,2.529000,0.004000,0.003000,0.068000,10.1856
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Gly284Gly/c.852G>A,ggG/ggA,LOW,,,,rs4579877,,,,,,chr10,46999732,46999732,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly284Gly/c.852G>A|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.44,0.39,0.47,,,,,,,,,,,,,,,,
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.His289His/c.867T>C,caT/caC,LOW,,,,rs3127821,,,,,,chr10,46999747,46999747,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His289His/c.867T>C|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Val348Leu/c.1042G>T,Gtg/Ttg,MODERATE,COSM1347901(4),,,rs4926046,0(D),0.994(D),2.36(M),-0.8881(T),,chr10,46999922,46999922,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val348Leu/c.1042G>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,,,,,,,,0.001808(N),1.000(D),"1.51,1.51(T,T)",0.0000(T),0.589,4.034376,4.85,4.85,0.313000,2.415000,4.918000,0.679000,1.000000,1.000000,15.8316
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Val375Ala/c.1124T>C,gTg/gCg,MODERATE,,0.945887,0.999,rs3127822,1(T),0.0(B),-2.175(N),-1.0012(T),,chr10,47000004,47000004,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val375Ala/c.1124T>C|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,1,0.9726,1,0.95,0.86,1.00,,0.547212(N),1.000(P),"2.08,2.08(T,T)",0.0000(T),0.034,-2.342671,4.65,1.74,-1.993000,-0.061000,0.047000,0.002000,0.002000,0.000000,8.9154
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Ala397Ala/c.1191G>A,gcG/gcA,LOW,,,,rs4244614,,,,,,chr10,47000071,47000071,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala397Ala/c.1191G>A|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,,,,0.45,0.39,0.48,,,,,,,,,,,,,,,,
missense_variant,GPRIN2,MISSENSE,NM_014696.3:p.Leu400Pro/c.1199T>C,cTg/cCg,MODERATE,COSM4144708(1),,,rs3127823,1(T),0.0(B),-2.295(N),-0.8549(T),,chr10,47000079,47000079,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu400Pro/c.1199T>C|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,,,,,,,,0.000830(N),0.992(D),"2.17,2.17(T,T)",0.0000(T),0.21,-0.610062,4.65,4.65,-0.642000,1.108000,2.609000,0.249000,0.829000,0.963000,11.1122
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Pro422Pro/c.1266C>T,ccC/ccT,LOW,COSM3747186(3),0.503395,0.505,rs3127684,,,,,,chr10,47000146,47000146,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro422Pro/c.1266C>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.502,0.5058,0.507,,,,,,,,,,,,,,,,,,,
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Pro436Pro/c.1308A>G,ccA/ccG,LOW,COSM3751795(2),0.951278,1,rs3127824,,,,,,chr10,47000188,47000188,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro436Pro/c.1308A>G|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9784,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GPRIN2,SILENT,NM_014696.3:p.Ser453Ser/c.1359C>T,tcC/tcT,LOW,COSM3751796(7),0.516374,0.5099,rs7912299,,,,,,chr10,47000239,47000239,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser453Ser/c.1359C>T|458|GPRIN2|protein_coding|CODING|NM_014696.3|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5153,0.5159,0.5159,,,,,,,,,,,,,,,,,,,
synonymous_variant,LOC100996758,SILENT,NM_001278795.1:p.Ile44Ile/c.132C>T,atC/atT,LOW,COSM3751797(2),,,rs59974223,,,,,,chr10,47086915,47086915,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile44Ile/c.132C>T|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile44Ile/c.132C>T|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile44Ile/c.132C>T|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,,,,0.12,0.13,0.11,,,,,,,,,,,,,,,,
synonymous_variant,LOC100996758,SILENT,NM_001278795.1:p.Val65Val/c.195G>A,gtG/gtA,LOW,COSM3751798(1),0.173922,0.3264,rs3740294,,,,,,chr10,47086978,47086978,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val65Val/c.195G>A|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val65Val/c.195G>A|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val65Val/c.195G>A|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1616,0.1369,0.1521,0.10,0.07,0.11,,,,,,,,,,,,,,,,
synonymous_variant,LOC100996758,SILENT,NM_001278795.1:p.Leu231Leu/c.691C>T,Ctg/Ttg,LOW,,,,rs1129838,,,,,,chr10,47087474,47087474,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu231Leu/c.691C>T|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu231Leu/c.691C>T|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu231Leu/c.691C>T|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,,,,0.73,0.78,0.70,,,,,,,,,,,,,,,,
synonymous_variant,LOC100996758,SILENT,NM_001278795.1:p.Ala275Ala/c.825T>C,gcT/gcC,LOW,,0.964657,0.997,rs1936339,,,,,,chr10,47087608,47087608,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala275Ala/c.825T>C|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala275Ala/c.825T>C|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala275Ala/c.825T>C|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9899,1,0.96,0.89,1.00,,,,,,,,,,,,,,,,
missense_variant,LOC100996758,MISSENSE,NM_001278795.1:p.Val276Met/c.826G>A,Gtg/Atg,MODERATE,COSM3751802(1),0.119209,0.0923,rs79871698,0.01(D),0.873(P),3.135(M),-0.2626(T),,chr10,47087609,47087609,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val276Met/c.826G>A|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val276Met/c.826G>A|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val276Met/c.826G>A|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1564,0.1383,0.1571,0.01,0.01,0.01,,0.049560(N),0.625(D),"-0.41,-0.41(T,T)",0.3385(T),0.048,0.945253,5.18,-0.0452,-0.136000,0.034000,0.930000,0.123000,0.064000,0.341000,5.2927
synonymous_variant,LOC100996758,SILENT,NM_001278795.1:p.His299His/c.897C>T,caC/caT,LOW,,,,rs1048157,,,,,,chr10,47087680,47087680,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His299His/c.897C>T|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),synonymous_variant(LOW|SILENT|caC/caT|p.His299His/c.897C>T|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),synonymous_variant(LOW|SILENT|caC/caT|p.His299His/c.897C>T|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,LOC100996758,SILENT,NM_001278795.1:p.Cys316Cys/c.948C>T,tgC/tgT,LOW,,0.826677,0.9901,rs1048158,,,,,,chr10,47087731,47087731,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys316Cys/c.948C>T|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys316Cys/c.948C>T|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys316Cys/c.948C>T|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8149,0.8184,0.7177,0.73,0.78,0.71,,,,,,,,,,,,,,,,
synonymous_variant,LOC100996758,SILENT,NM_001278795.1:p.Ser349Ser/c.1047G>A,tcG/tcA,LOW,,0.826478,0.9891,rs1129839,,,,,,chr10,47087830,47087830,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser349Ser/c.1047G>A|375|LOC100996758|protein_coding|CODING|NM_001278795.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser349Ser/c.1047G>A|375|NPY4R|protein_coding|CODING|NM_001278794.1|2|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser349Ser/c.1047G>A|375|NPY4R|protein_coding|CODING|NM_005972.5|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8149,0.8184,0.7177,,,,,,,,,,,,,,,,,,,
synonymous_variant,ANXA8L1,SILENT,NM_001098845.2:p.Asp175Asp/c.525C>T,gaC/gaT,LOW,COSM3751803(1),,,rs77623921,,,,,,chr10,47756065,47756065,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp175Asp/c.525C>T|327|ANXA8L1|protein_coding|CODING|NM_001098845.2|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp118Asp/c.354C>T|270|ANXA8L1|protein_coding|CODING|NM_001278923.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp156Asp/c.468C>T|276|ANXA8L1|protein_coding|CODING|NM_001278924.1|5|1)","HMEC:H3K36me3,NHEK:H3K36me3,NHEK:DNase1",,,,,,,0.14,0.12,0.15,,,,,,,,,,,,,,,,
missense_variant,ARHGAP22,MISSENSE,NM_001256024.1:p.Pro405Leu/c.1214C>T,cCc/cTc,MODERATE,,0.00798722,0,rs80345791,0.21(T),"0.003,0.004,0.024,0.004,0.007,0.113(B,B,B,B,B,B)",2.215(M),-1.0769(T),,chr10,49659006,49659006,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro405Leu/c.1214C>T|714|ARHGAP22|protein_coding|CODING|NM_001256024.1|9|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro395Leu/c.1184C>T|704|ARHGAP22|protein_coding|CODING|NM_001256025.2|9|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro299Leu/c.896C>T|608|ARHGAP22|protein_coding|CODING|NM_001256026.1|7|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro389Leu/c.1166C>T|698|ARHGAP22|protein_coding|CODING|NM_021226.3|9|1),non_coding_exon_variant(MODIFIER|||n.2000C>T||ARHGAP22||CODING|NR_045675.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.002,0.0115,0.0288,0.01,0.00,0.01,,0.008203(N),1.000(N),"2.87,2.54,1.73,2.13,2.53,2.83,2.88(T,T,T,T,T,T,T)",0.0264(T),0.048,0.840164,5.2,4.3,0.313000,1.204000,1.605000,0.053000,0.481000,0.179000,10.957
synonymous_variant,ARHGAP22,SILENT,NM_001256024.1:p.Pro213Pro/c.639A>G,ccA/ccG,LOW,,0.901957,1,rs3853761,,,,,,chr10,49667795,49667795,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro213Pro/c.639A>G|714|ARHGAP22|protein_coding|CODING|NM_001256024.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro203Pro/c.609A>G|704|ARHGAP22|protein_coding|CODING|NM_001256025.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro107Pro/c.321A>G|608|ARHGAP22|protein_coding|CODING|NM_001256026.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro197Pro/c.591A>G|698|ARHGAP22|protein_coding|CODING|NM_021226.3|5|1),non_coding_exon_variant(MODIFIER|||n.1477A>G||ARHGAP22||CODING|NR_045675.1|6|1)","HepG2:Gabp,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,0.998,0.9755,0.999,0.90,0.69,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP22,SILENT,NM_001256024.1:p.Ala110Ala/c.330C>T,gcC/gcT,LOW,,0.789337,0.9425,rs4080665,,,,,,chr10,49687800,49687800,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala110Ala/c.330C>T|714|ARHGAP22|protein_coding|CODING|NM_001256024.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala116Ala/c.348C>T|704|ARHGAP22|protein_coding|CODING|NM_001256025.2|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala20Ala/c.60C>T|608|ARHGAP22|protein_coding|CODING|NM_001256026.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala110Ala/c.330C>T|698|ARHGAP22|protein_coding|CODING|NM_021226.3|4|1),non_coding_exon_variant(MODIFIER|||n.1216C>T||ARHGAP22||CODING|NR_045675.1|5|1)","IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8947,0.8761,0.8678,0.75,0.55,0.85,,,,,,,,,,,,,,,,
missense_variant,ARHGAP22,MISSENSE,NM_001256025.2:p.Ala5Pro/c.13G>C,Gct/Cct,MODERATE,,0.000199681,0,rs186791751,0.25(T),0.996(D),,-1.1276(T),,chr10,49860318,49860318,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala5Pro/c.13G>C|704|ARHGAP22|protein_coding|CODING|NM_001256025.2|1|1),non_coding_exon_variant(MODIFIER|||n.881G>C||ARHGAP22||CODING|NR_045675.1|2|1)","HUVEC:H3K36me3,HSMM:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0,0.001,,,,,,1.000(D),2.72(T),0.0878(T),0.668,2.999505,5.05,5.05,0.511000,2.355000,1.964000,0.954000,0.850000,0.997000,13.9015
missense_variant,WDFY4,MISSENSE,NM_020945.1:p.Ser1528Pro/c.4582T>C,Tcc/Ccc,MODERATE,COSM3997993(1),0.576877,0.8304,rs2170132,,,-0.205(N),-1.0056(T),,chr10,50013402,50013402,T,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser1528Pro/c.4582T>C|3184|WDFY4|protein_coding|CODING|NM_020945.1|26|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4427,0.3977,0.2962,0.44,0.73,0.31,,,0.000(P),,0.0000(T),.,0.653714,5.01,1.47,-0.821000,0.219000,-0.165000,0.577000,0.989000,0.490000,4.1496
missense_variant,WDFY4,MISSENSE,NM_020945.1:p.Arg1816Gln/c.5447G>A,cGa/cAa,MODERATE,COSM1560763(3),0.358626,0.6935,rs7097397,,"0.338,0.084(B,B)",2.015(M),-0.9231(T),,chr10,50025396,50025396,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1816Gln/c.5447G>A|3184|WDFY4|protein_coding|CODING|NM_020945.1|32|1),"GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",Systemic_lupus_erythematosus,,,0.3497,0.3271,0.3956,0.31,0.13,0.39,,0.502486(N),1.000(P),0.53(T),0.0000(T),0.201,0.834530,5.45,3.56,-0.136000,0.642000,1.117000,0.383000,0.804000,0.001000,4.1163
synonymous_variant,WDFY4,SILENT,NM_020945.1:p.Gln2132Gln/c.6396A>G,caA/caG,LOW,COSM3931064(1),0.65016,0.8115,rs3747874,,,,-1.0072(T),,chr10,50038800,50038800,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln2132Gln/c.6396A>G|3184|WDFY4|protein_coding|CODING|NM_020945.1|38|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.5331,0.5149,0.57,0.71,0.51,,,0.000(P),,0.0000(T),.,-0.688822,5.87,5.87,-0.119000,1.644000,2.819000,0.063000,1.000000,1.000000,9.5838
missense_variant,WDFY4,MISSENSE,NM_020945.1:p.Ser2527Asn/c.7580G>A,aGt/aAt,MODERATE,,0.969649,1,rs2663046,,0.0(B),0(N),-1.0047(T),,chr10,50109902,50109902,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2527Asn/c.7580G>A|3184|WDFY4|protein_coding|CODING|NM_020945.1|47|1),"GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.92,1.00,,0.608515(N),0.000(P),0.46(T),0.0000(T),0.039,-1.649050,4.98,2.62,-1.103000,0.058000,0.791000,0.024000,0.605000,0.438000,4.2942
synonymous_variant,LRRC18,SILENT,NM_001006939.3:p.Thr139Thr/c.417A>G,acA/acG,LOW,COSM4144728(1),0.6252,0.7292,rs10776653,,,,,,chr10,50121784,50121784,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr139Thr/c.417A>G|261|LRRC18|protein_coding|CODING|NM_001006939.3|1|1),intron_variant(MODIFIER|||c.7586+11876T>C|3184|WDFY4|protein_coding|CODING|NM_020945.1|47|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6431,0.5346,0.494,0.54,0.63,0.49,,,,,,,,,,,,,,,,
missense_variant,LRRC18,MISSENSE,NM_001006939.3:p.Gly7Val/c.20G>T,gGc/gTc,MODERATE,,0.363019,0.7202,rs7094610,,0.019(B),1.085(L),-0.9590(T),,chr10,50122181,50122181,C,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly7Val/c.20G>T|261|LRRC18|protein_coding|CODING|NM_001006939.3|1|1),intron_variant(MODIFIER|||c.7586+12273C>A|3184|WDFY4|protein_coding|CODING|NM_020945.1|47|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.456,0.2925,0.339,0.27,0.11,0.35,,0.304644(N),0.000(P),"0.53,0.37(T,T)",0.0000(T),0.067,0.247427,6.06,0.75,-0.219000,-0.111000,0.085000,0.251000,0.048000,0.254000,14.4604
synonymous_variant,VSTM4,SILENT,NM_001031746.4:p.Glu291Glu/c.873A>G,gaA/gaG,LOW,,0.935304,1,rs1913525,,,,,,chr10,50227785,50227785,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu291Glu/c.873A>G|320|VSTM4|protein_coding|CODING|NM_001031746.4|8|1),"IMR90:H3K36me3,NHEK:H3K27me3",,,,1,0.9741,1,0.94,0.83,1.00,,,,,,,,,,,,,,,,
missense_variant,FAM170B,MISSENSE,NM_001164484.1:p.Asp252Glu/c.756C>A,gaC/gaA,MODERATE,,0.171126,0.0625,rs73302786,1(T),0.009(B),0.49(N),-1.0151(T),,chr10,50339754,50339754,G,T,het,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp252Glu/c.756C>A|283|FAM170B|protein_coding|CODING|NM_001164484.1|2|1),intron_variant(MODIFIER|||n.439-3947G>T||FAM170B-AS1||NON_CODING|NR_038973.1|1|1)","GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2209,0.1282,0.2018,0.22,0.25,0.21,,0.068289(N),1.000(P),1.55(T),0.0000(T),0.021,1.500335,5.37,-5.56,-0.693000,-0.560000,-0.061000,0.032000,0.003000,0.863000,1.0815
missense_variant,FAM170B,MISSENSE,NM_001164484.1:p.Leu183Gln/c.548T>A,cTg/cAg,MODERATE,,0.0882588,0.003,rs75297145,0.08(T),0.036(B),1.7(L),-1.0226(T),,chr10,50339962,50339962,A,T,het,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu183Gln/c.548T>A|283|FAM170B|protein_coding|CODING|NM_001164484.1|2|1),intron_variant(MODIFIER|||n.439-3739A>T||FAM170B-AS1||NON_CODING|NR_038973.1|1|1)","GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1524,0.1095,0.1938,0.16,0.04,0.21,,0.752387(N),1.000(P),1.45(T),0.0000(T),0.201,0.950364,5.73,1.93,0.491000,1.011000,-0.175000,0.115000,0.768000,0.000000,2.8237
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Asn208Lys/c.624C>G,aaC/aaG,MODERATE,,0.0854633,0.2163,rs4838383,0.56(T),0.083(B),1.15(L),-0.9752(T),,chr10,50531214,50531214,C,G,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn208Lys/c.624C>G|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0389,0.098,0.0457,0.05,0.05,0.04,,0.182777(N),1.000(P),"2.49,3.61(T,T)",0.0000(T),0.028,1.065842,4.99,-1.58,0.561000,-0.516000,-0.646000,0.683000,0.001000,0.000000,1.998
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Arg320Leu/c.959G>T,cGc/cTc,MODERATE,COSM3751830(1),0.175919,0.3085,rs56206226,0.73(T),0.004(B),1.245(L),-0.9351(T),,chr10,50531549,50531549,G,T,het,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg320Leu/c.959G>T|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1084,0.2594,0.1481,0.15,0.13,0.16,,0.090417(N),1.000(P),"2.48,3.61(T,T)",0.0000(T),0.051,-0.746668,5.4,-7.89,-0.291000,-1.479000,-0.855000,0.009000,0.000000,0.000000,5.0552
synonymous_variant,C10orf71,SILENT,NM_001135196.1:p.Leu338Leu/c.1014T>C,ctT/ctC,LOW,,0.957069,1,rs7093235,,,,,,chr10,50531604,50531604,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu338Leu/c.1014T>C|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9784,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Ala339Glu/c.1016C>A,gCa/gAa,MODERATE,COSM3751833(1),0.175919,0.3085,rs55780106,0.75(T),0.092(B),1.245(L),-0.9220(T),,chr10,50531606,50531606,C,A,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala339Glu/c.1016C>A|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1084,0.2594,0.1481,0.15,0.13,0.16,,0.791357(N),1.000(P),"2.51,3.63(T,T)",0.0000(T),0.048,-0.558277,5.4,1.13,0.655000,0.658000,0.095000,0.003000,0.000000,0.000000,7.5024
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Asp461Ala/c.1382A>C,gAc/gCc,MODERATE,COSM4144737(1),0.176518,0.3095,rs45554335,0.08(T),0.002(B),1.79(L),-0.9448(T),,chr10,50531972,50531972,A,C,het,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp461Ala/c.1382A>C|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1084,0.2608,0.1481,0.15,0.13,0.16,,0.762440(N),1.000(P),"2.33,3.46(T,T)",0.0000(T),0.117,0.073746,5.3,0.171,-0.262000,-0.215000,2.043000,0.001000,0.000000,0.803000,6.4363
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Phe698Ser/c.2093T>C,tTc/tCc,MODERATE,,0.962859,1,rs7921186,0.13(T),,-1.61(N),-0.9064(T),,chr10,50532683,50532683,T,C,hom,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe698Ser/c.2093T>C|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9798,0.999,0.97,0.89,1.00,,0.004185(N),0.000(P),4.01(T),0.0000(T),0.054,0.085043,5.64,5.64,-0.186000,1.416000,2.397000,0.866000,1.000000,0.987000,9.9353
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Asp883Asn/c.2647G>A,Gac/Aac,MODERATE,COSM3751834(4),0.172524,0.3085,rs12217617,0.21(T),,0.805(L),-0.8634(T),,chr10,50533237,50533237,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp883Asn/c.2647G>A|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1084,0.2594,0.1481,0.14,0.11,0.15,,0.678855(U),1.000(P),3.57(T),0.0000(T),0.005,2.321098,5.17,2.91,0.491000,1.149000,3.362000,0.347000,0.431000,0.994000,9.1161
synonymous_variant,C10orf71,SILENT,NM_001135196.1:p.Gly1009Gly/c.3027T>C,ggT/ggC,LOW,COSM4144740(1),0.872005,0.7837,rs2377940,,,,,,chr10,50533617,50533617,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1009Gly/c.3027T>C|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9632,0.8775,0.9533,0.91,0.81,0.96,,,,,,,,,,,,,,,,
synonymous_variant,C10orf71,SILENT,NM_001135196.1:p.Pro1062Pro/c.3186C>G,ccC/ccG,LOW,,0.346845,0.1954,rs10857471,,,,,,chr10,50533776,50533776,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1062Pro/c.3186C>G|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.3919,0.4334,,,,,,,,,,,,,,,,,,,
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Ala1269Thr/c.3805G>A,Gcg/Acg,MODERATE,,0.0395367,0.126,rs41301109,0.94(T),,-0.345(N),-1.0417(T),,chr10,50534395,50534395,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala1269Thr/c.3805G>A|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,K562:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0123,0.0173,0.0437,0.03,0.01,0.03,,0.922092(N),0.661(P),0.99(T),0.0002(T),0.012,0.678314,5.65,-3.3,-0.701000,-0.431000,0.396000,0.049000,0.001000,0.016000,0.1676
missense_variant,C10orf71,MISSENSE,NM_001135196.1:p.Gly1337Ser/c.4009G>A,Ggc/Agc,MODERATE,COSM3751835(2),0.329673,0.1925,rs10857472,0.27(T),,1.5(L),-0.9115(T),,chr10,50534599,50534599,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1337Ser/c.4009G>A|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,K562:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4744,0.3818,0.4354,0.38,0.22,0.45,,0.332142(U),1.000(P),0.88(T),0.0000(T),0.127,3.257811,5.42,2.56,0.298000,0.270000,4.340000,0.536000,0.002000,1.000000,5.5553
synonymous_variant,C10orf71,SILENT,NM_001135196.1:p.Ser1352Ser/c.4056C>T,tcC/tcT,LOW,COSM3749109(1),0.0842652,0.2123,rs12415544,,,,,,chr10,50534646,50534646,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1352Ser/c.4056C>T|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,K562:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0368,0.098,0.0457,,,,,,,,,,,,,,,,,,,
synonymous_variant,C10orf71,SILENT,NM_001135196.1:p.Asp1424Asp/c.4272T>C,gaT/gaC,LOW,,0.303714,0.4127,rs12411843,,,,,,chr10,50534862,50534862,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1424Asp/c.4272T>C|1435|C10orf71|protein_coding|CODING|NM_001135196.1|3|1),"GM06990:H3K27me3,K562:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3384,0.3818,0.333,0.28,0.17,0.32,,,,,,,,,,,,,,,,
missense_variant,ERCC6,MISSENSE,NM_000124.3:p.Gln1413Arg/c.4238A>G,cAg/cGg,MODERATE,COSM427630(2),0.178914,0.0437,rs2228529,0.53(T),0.016(B),0.69(N),-1.1229(T),,chr10,50667105,50667105,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1413Arg/c.4238A>G|1493|ERCC6|protein_coding|CODING|NM_000124.3|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117001.2,,0.3405,0.2089,0.2078,0.19,0.14,0.22,,,1.000(P),"-1.63,-1.38(D,T)",0.0001(T),0.073,1.379579,5.5,-4.93,-0.316000,-0.673000,0.101000,0.342000,0.000000,0.000000,9.0549
missense_variant,ERCC6,MISSENSE,NM_000124.3:p.Arg1213Gly/c.3637A>G,Aga/Gga,MODERATE,COSM3751836(1),0.184704,0.0437,rs2228527,0.31(T),0.15(B),2.19(M),-1.1461(T),,chr10,50678369,50678369,T,C,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg1213Gly/c.3637A>G|1493|ERCC6|protein_coding|CODING|NM_000124.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116998.2,,0.3405,0.2104,0.2087,0.20,0.16,0.22,,,1.000(P),"-1.74,-1.48(D,T)",0.0003(T),0.216,1.572105,5.65,1.87,-0.316000,0.122000,1.716000,0.716000,0.042000,0.572000,8.6269
missense_variant,ERCC6,MISSENSE,NM_000124.3:p.Met1097Val/c.3289A>G,Atg/Gtg,MODERATE,COSM3751837(1),0.182508,0.0437,rs2228526,0.37(T),0.004(B),0(N),-1.1159(T),,chr10,50678717,50678717,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1097Val/c.3289A>G|1493|ERCC6|protein_coding|CODING|NM_000124.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116997.2,,0.3415,0.2104,0.2078,0.19,0.14,0.22,,,1.000(P),"-1.55,-1.29(D,T)",0.0001(T),0.024,-0.303168,4.57,-6.21,-0.256000,-1.189000,-0.211000,0.065000,0.000000,0.000000,3.2523
synonymous_variant,ERCC6-PGBD3,SILENT,NM_001277058.1:p.Leu961Leu/c.2881C>T,Ctg/Ttg,LOW,,0.893371,0.999,rs4253073,,,,,,chr10,50723684,50723684,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu961Leu/c.2881C>T|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277058.1|6|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu961Leu/c.2881C>T|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277059.1|6|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu493Leu/c.1477C>T|593|PGBD3|protein_coding|CODING|NM_170753.3|2|1),intron_variant(MODIFIER|||c.1397+8395C>T|1493|ERCC6|protein_coding|CODING|NM_000124.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9622,0.9409,0.8966,0.85,0.74,0.90,,,,,,,,,,,,,,,,
missense_variant,ERCC6-PGBD3,MISSENSE,NM_001277058.1:p.Arg850Lys/c.2549G>A,aGa/aAa,MODERATE,,0.996206,1,rs386592018,0.38(T),"0.0,0.0(B,B)",-0.49(N),-1.0561(T),,chr10,50724016,50724016,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg850Lys/c.2549G>A|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277058.1|6|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg850Lys/c.2549G>A|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277059.1|6|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg382Lys/c.1145G>A|593|PGBD3|protein_coding|CODING|NM_170753.3|2|1),intron_variant(MODIFIER|||c.1397+8063G>A|1493|ERCC6|protein_coding|CODING|NM_000124.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,,1.000(P),"2.35,2.35,2.35,2.35(T,T,T,T)",0.0000(T),0.013,-0.692870,0.699,0.699,-0.490000,-0.250000,-0.544000,0.665000,0.006000,0.000000,.
synonymous_variant,ERCC6-PGBD3,SILENT,NM_001277058.1:p.Ser719Ser/c.2157C>T,agC/agT,LOW,,0.00159744,0,rs41281955,,,,,,chr10,50724408,50724408,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser719Ser/c.2157C>T|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277058.1|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser719Ser/c.2157C>T|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277059.1|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser251Ser/c.753C>T|593|PGBD3|protein_coding|CODING|NM_170753.3|2|1),intron_variant(MODIFIER|||c.1397+7671C>T|1493|ERCC6|protein_coding|CODING|NM_000124.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0072,0.003,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ERCC6,SILENT,NM_000124.3:p.Leu45Leu/c.135C>G,ctC/ctG,LOW,,0.590855,0.5079,rs2228524,,,,,,chr10,50740876,50740876,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu45Leu/c.135C>G|1493|ERCC6|protein_coding|CODING|NM_000124.3|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu45Leu/c.135C>G|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277058.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu45Leu/c.135C>G|1061|ERCC6-PGBD3|protein_coding|CODING|NM_001277059.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116995.2,,0.8231,0.6657,0.7346,0.63,0.40,0.74,,,,,,,,,,,,,,,,
missense_variant,SLC18A3,MISSENSE,NM_003055.2:p.Ala520Glu/c.1559C>A,gCg/gAg,MODERATE,,0.997404,1,rs8187730,1(T),0.0(B),-0.345(N),-1.0094(T),,chr10,50820345,50820345,C,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala520Glu/c.1559C>A|532|SLC18A3|protein_coding|CODING|NM_003055.2|1|1),upstream_gene_variant(MODIFIER||809||630|CHAT|protein_coding|CODING|NM_020985.3||1),upstream_gene_variant(MODIFIER||809||630|CHAT|protein_coding|CODING|NM_020986.3||1),upstream_gene_variant(MODIFIER||1738||630|CHAT|protein_coding|CODING|NM_001142929.1||1),upstream_gene_variant(MODIFIER||1738||666|CHAT|protein_coding|CODING|NM_001142933.1||1),upstream_gene_variant(MODIFIER||1738||630|CHAT|protein_coding|CODING|NM_001142934.1||1),upstream_gene_variant(MODIFIER||1738||748|CHAT|protein_coding|CODING|NM_020549.4||1),intron_variant(MODIFIER|||c.-69+3100C>A|630|CHAT|protein_coding|CODING|NM_020984.3|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,0.759458(N),0.999(P),3.7(T),0.0000(T),0.039,-1.464922,3.99,-2.77,-1.229000,-0.804000,-0.042000,0.297000,0.001000,0.021000,6.8879
missense_variant,SLC18A3,MISSENSE,NM_003055.2:p.Arg531Gly/c.1591C>G,Cgc/Ggc,MODERATE,,,,,0(D),0.06(B),0(N),-0.9878(T),,chr10,50820377,50820377,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg531Gly/c.1591C>G|532|SLC18A3|protein_coding|CODING|NM_003055.2|1|1),upstream_gene_variant(MODIFIER||777||630|CHAT|protein_coding|CODING|NM_020985.3||1),upstream_gene_variant(MODIFIER||777||630|CHAT|protein_coding|CODING|NM_020986.3||1),upstream_gene_variant(MODIFIER||1706||630|CHAT|protein_coding|CODING|NM_001142929.1||1),upstream_gene_variant(MODIFIER||1706||666|CHAT|protein_coding|CODING|NM_001142933.1||1),upstream_gene_variant(MODIFIER||1706||630|CHAT|protein_coding|CODING|NM_001142934.1||1),upstream_gene_variant(MODIFIER||1706||748|CHAT|protein_coding|CODING|NM_020549.4||1),intron_variant(MODIFIER|||c.-69+3132C>G|630|CHAT|protein_coding|CODING|NM_020984.3|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.709614(U),1.000(N),3.54(T),0.0090(T),0.508,1.780308,3.99,3.99,0.555000,2.168000,1.798000,0.327000,1.000000,0.740000,8.3742
missense_variant,CHAT,MISSENSE,NM_020549.4:p.Leu243Phe/c.727C>T,Ctc/Ttc,MODERATE,,0.0251597,0,rs8178990,0(D),"0.637,0.983(P,D)",2.68(M),-0.2921(T),,chr10,50830171,50830171,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu125Phe/c.373C>T|630|CHAT|protein_coding|CODING|NM_001142929.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu161Phe/c.481C>T|666|CHAT|protein_coding|CODING|NM_001142933.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu125Phe/c.373C>T|630|CHAT|protein_coding|CODING|NM_001142934.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu243Phe/c.727C>T|748|CHAT|protein_coding|CODING|NM_020549.4|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu125Phe/c.373C>T|630|CHAT|protein_coding|CODING|NM_020984.3|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu125Phe/c.373C>T|630|CHAT|protein_coding|CODING|NM_020985.3|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu125Phe/c.373C>T|630|CHAT|protein_coding|CODING|NM_020986.3|5|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116699.2,,0.0153,0.0202,0.0944,0.05,0.01,0.06,,0.003446(N),0.999(D),"-2.76,-2.76,-2.76,-2.76,-2.76,-2.76(D,D,D,D,D,D)",0.2099(T),0.515,4.121133,4.74,4.74,0.561000,2.161000,3.979000,0.995000,1.000000,1.000000,17.7116
missense_variant,CHAT,MISSENSE,NM_020549.4:p.Val461Met/c.1381G>A,Gtg/Atg,MODERATE,,0.966454,1,rs4838544,1(T),"0.005,0.004(B,B)",-0.67(N),-0.9225(T),,chr10,50856652,50856652,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val343Met/c.1027G>A|630|CHAT|protein_coding|CODING|NM_001142929.1|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val379Met/c.1135G>A|666|CHAT|protein_coding|CODING|NM_001142933.1|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val343Met/c.1027G>A|630|CHAT|protein_coding|CODING|NM_001142934.1|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val461Met/c.1381G>A|748|CHAT|protein_coding|CODING|NM_020549.4|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val343Met/c.1027G>A|630|CHAT|protein_coding|CODING|NM_020984.3|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val343Met/c.1027G>A|630|CHAT|protein_coding|CODING|NM_020985.3|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val343Met/c.1027G>A|630|CHAT|protein_coding|CODING|NM_020986.3|9|1),splice_region_variant(LOW|||c.1027G>A|630|CHAT|protein_coding|CODING|NM_001142929.1|9|1),splice_region_variant(LOW|||c.1135G>A|666|CHAT|protein_coding|CODING|NM_001142933.1|10|1),splice_region_variant(LOW|||c.1027G>A|630|CHAT|protein_coding|CODING|NM_001142934.1|10|1),splice_region_variant(LOW|||c.1381G>A|748|CHAT|protein_coding|CODING|NM_020549.4|9|1),splice_region_variant(LOW|||c.1027G>A|630|CHAT|protein_coding|CODING|NM_020984.3|9|1),splice_region_variant(LOW|||c.1027G>A|630|CHAT|protein_coding|CODING|NM_020985.3|10|1),splice_region_variant(LOW|||c.1027G>A|630|CHAT|protein_coding|CODING|NM_020986.3|9|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9928,1,0.96,0.89,1.00,,0.000000(N),1.000(P),"-2.48,-2.48,-2.48,-2.48,-2.48,-2.48(D,D,D,D,D,D)",0.0000(T),0.233,-0.098923,5.01,3.87,-0.521000,0.252000,5.317000,0.715000,0.998000,1.000000,9.5538
synonymous_variant,CHAT,SILENT,NM_020549.4:p.His547His/c.1641T>C,caT/caC,LOW,COSM4144745(1),0.79353,0.8244,rs8178992,,,,,,chr10,50863147,50863147,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His429His/c.1287T>C|630|CHAT|protein_coding|CODING|NM_001142929.1|12|1),synonymous_variant(LOW|SILENT|caT/caC|p.His465His/c.1395T>C|666|CHAT|protein_coding|CODING|NM_001142933.1|13|1),synonymous_variant(LOW|SILENT|caT/caC|p.His429His/c.1287T>C|630|CHAT|protein_coding|CODING|NM_001142934.1|13|1),synonymous_variant(LOW|SILENT|caT/caC|p.His547His/c.1641T>C|748|CHAT|protein_coding|CODING|NM_020549.4|12|1),synonymous_variant(LOW|SILENT|caT/caC|p.His429His/c.1287T>C|630|CHAT|protein_coding|CODING|NM_020984.3|12|1),synonymous_variant(LOW|SILENT|caT/caC|p.His429His/c.1287T>C|630|CHAT|protein_coding|CODING|NM_020985.3|13|1),synonymous_variant(LOW|SILENT|caT/caC|p.His429His/c.1287T>C|630|CHAT|protein_coding|CODING|NM_020986.3|12|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116692.1,,0.8466,0.7378,0.8926,0.84,0.70,0.91,,,,,,,,,,,,,,,,
synonymous_variant,C10orf53,SILENT,NM_182554.2:p.Leu28Leu/c.84G>T,ctG/ctT,LOW,,0.00119808,0,rs144285786,,,,,,chr10,50887827,50887827,G,T,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu28Leu/c.84G>T|93|C10orf53|protein_coding|CODING|NM_001042427.1|1|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu28Leu/c.84G>T|157|C10orf53|protein_coding|CODING|NM_182554.2|1|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,K562:USF1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,K562:Egr1,HepG2:H3K27me3,K562:DNase1",,,,0,0.0072,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,C10orf53,MISSENSE,NM_182554.2:p.Arg99Gly/c.295A>G,Agg/Ggg,MODERATE,,0.808107,0.9643,rs1258236,1(T),0.0(B),0(N),-0.9873(T),,chr10,50916484,50916484,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg99Gly/c.295A>G|157|C10orf53|protein_coding|CODING|NM_182554.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8415,0.9121,0.9354,0.82,0.60,0.94,,,1.000(P),,0.0000(T),0.016,-1.237050,1.83,-3.66,-1.668000,-1.997000,-2.013000,0.001000,0.000000,0.000000,4.9019
synonymous_variant,OGDHL,SILENT,NM_018245.2:p.Leu188Leu/c.564C>T,ctC/ctT,LOW,COSM3751848(1),0.464257,0.9107,rs1258184,,,,,,chr10,50960209,50960209,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu131Leu/c.393C>T|953|OGDHL|protein_coding|CODING|NM_001143996.1|4|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu188Leu/c.564C>T|1010|OGDHL|protein_coding|CODING|NM_018245.2|5|1),5_prime_UTR_variant(MODIFIER||215|c.-64C>T|801|OGDHL|protein_coding|CODING|NM_001143997.1|3|1)","H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4305,0.4798,0.4642,0.39,0.20,0.48,,,,,,,,,,,,,,,,
synonymous_variant,NCOA4,SILENT,NM_001145260.1:p.Asp239Asp/c.717C>T,gaC/gaT,LOW,,0.0786741,0.0694,rs41306524,,,,-1.0557(T),,chr10,51582894,51582894,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp239Asp/c.717C>T|650|NCOA4|protein_coding|CODING|NM_001145260.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp239Asp/c.717C>T|630|NCOA4|protein_coding|CODING|NM_001145261.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp223Asp/c.669C>T|614|NCOA4|protein_coding|CODING|NM_001145262.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp223Asp/c.669C>T|614|NCOA4|protein_coding|CODING|NM_001145263.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp223Asp/c.669C>T|614|NCOA4|protein_coding|CODING|NM_005437.3|7|1),intron_variant(MODIFIER|||c.515-149878C>T|188|TIMM23B|protein_coding|CODING|NM_001290117.1|6|1),intron_variant(MODIFIER|||c.371-149878C>T|140|TIMM23B|protein_coding|CODING|NM_001290118.1|4|1),intron_variant(MODIFIER|||n.801-149878C>T||TIMM23B||CODING|NR_110767.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0746,0.0706,0.1272,0.09,0.07,0.11,,,0.000(P),,0.0019(T),.,-0.781039,5.93,0.901,-0.136000,-0.088000,0.207000,0.024000,0.905000,0.339000,6.0322
synonymous_variant,SGMS1,SILENT,NM_147156.3:p.Asn56Asn/c.168T>C,aaT/aaC,LOW,,0.501997,0.4861,rs10763354,,,,,,chr10,52103707,52103707,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn56Asn/c.168T>C|413|SGMS1|protein_coding|CODING|NM_147156.3|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3722,0.6311,0.5298,0.53,0.54,0.53,,,,,,,,,,,,,,,,
synonymous_variant,CSTF2T,SILENT,NM_015235.2:p.Arg421Arg/c.1263T>C,cgT/cgC,LOW,COSM146938(3),0.2498,0.2173,rs3740228,,,,,,chr10,53458047,53458047,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg421Arg/c.1263T>C|616|CSTF2T|protein_coding|CODING|NM_015235.2|1|1),intron_variant(MODIFIER|||c.548-106298A>G|671|PRKG1|protein_coding|CODING|NM_001098512.2|3|1),intron_variant(MODIFIER|||c.593-106298A>G|686|PRKG1|protein_coding|CODING|NM_006258.3|3|1)","CD4:H3K9me1,HeLa-S3:H3K79me2,GM12878:H3K4me3,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,CD4:H3K4ac,CD4:H3K4me2,K562:H3K79me2,CD4:H2BK120ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2025,0.1196,0.1551,0.22,0.38,0.14,,,,,,,,,,,,,,,,
synonymous_variant,CSTF2T,SILENT,NM_015235.2:p.Arg381Arg/c.1143G>A,agG/agA,LOW,COSM3751857(2),0.0908546,0.1369,rs3824686,,,,,,chr10,53458167,53458167,C,T,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg381Arg/c.1143G>A|616|CSTF2T|protein_coding|CODING|NM_015235.2|1|1),intron_variant(MODIFIER|||c.548-106178C>T|671|PRKG1|protein_coding|CODING|NM_001098512.2|3|1),intron_variant(MODIFIER|||c.593-106178C>T|686|PRKG1|protein_coding|CODING|NM_006258.3|3|1)","CD4:H3K9me1,K562:H3K4me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,CD4:H3K4ac,CD4:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,IMR90:H3K79me2",,,,0.1125,0.0461,0.0736,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,CSTF2T,SILENT,NM_015235.2:p.Leu104Leu/c.312T>C,ctT/ctC,LOW,,0.315695,0.2123,rs2292828,,,,,,chr10,53458998,53458998,A,G,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu104Leu/c.312T>C|616|CSTF2T|protein_coding|CODING|NM_015235.2|1|1),intron_variant(MODIFIER|||c.548-105347A>G|671|PRKG1|protein_coding|CODING|NM_001098512.2|3|1),intron_variant(MODIFIER|||c.593-105347A>G|686|PRKG1|protein_coding|CODING|NM_006258.3|3|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,CD4:H3K23ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,CD4:H2BK12ac",,,,0.2096,0.1455,0.1571,0.28,0.57,0.14,,,,,,,,,,,,,,,,
synonymous_variant,DKK1,SILENT,NM_012242.2:p.Ala106Ala/c.318A>G,gcA/gcG,LOW,,0.525359,0.2688,rs2241529,,,,,,chr10,54074757,54074757,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala106Ala/c.318A>G|266|DKK1|protein_coding|CODING|NM_012242.2|2|1),upstream_gene_variant(MODIFIER||869|||PRKG1-AS1||NON_CODING|NR_038277.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,HepG2:H3K4me2,HeLa-S3:DNase1,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.5419,0.464,0.5417,0.60,0.70,0.56,,,,,,,,,,,,,,,,
synonymous_variant,MBL2,SILENT,NM_000242.2:p.Leu126Leu/c.378C>G,ctC/ctG,LOW,COSM1348195(1),0.738818,0.7302,rs930507,,,,,,chr10,54528266,54528266,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu126Leu/c.378C>G|248|MBL2|protein_coding|CODING|NM_000242.2|4|1),"HepG2:RXRA,HepG2:H3K4me2,HepG2:p300,HepG2:H3K27ac,HepG2:SP1,HepG2:HNF4A,HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,0.7321,0.8559,0.8032,0.77,0.66,0.82,,,,,,,,,,,,,,,,
missense_variant,MBL2,MISSENSE,NM_000242.2:p.Gly54Asp/c.161G>A,gGc/gAc,MODERATE,COSM3736003(2),0.122005,0.1478,rs1800450,0(D),0.999(D),4.485(H),-1.2495(T),,chr10,54531235,54531235,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly54Asp/c.161G>A|248|MBL2|protein_coding|CODING|NM_000242.2|1|1),"HUVEC:H3K27me3,HepG2:H3K27ac",,RCV000015424.20,,0.1534,0.219,0.1412,0.10,0.03,0.14,,0.001384(N),0.000(P),-5.77(D),0.1847(T),0.742,4.011183,3.99,3.99,0.655000,2.530000,3.632000,0.900000,0.994000,0.973000,11.8851
missense_variant,PCDH15,MISSENSE,NM_001142771.1:p.Gln1661Pro/c.4982A>C,cAg/cCg,MODERATE,,0.110224,0.005,rs17704703,0.5(T),"0.0,0.0(B,B)",0.665(N),-1.0268(T),,chr10,55566406,55566406,T,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln1661Pro/c.4982A>C|1682|PCDH15|protein_coding|CODING|NM_001142771.1|35|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln1656Pro/c.4967A>C|1677|PCDH15|protein_coding|CODING|NM_001142772.1|34|1)",,,,,0.1452,0.1614,0.2724,0.22,0.06,0.30,,,0.000(P),"0.25,0.29(T,T)",0.0000(T),0.068,0.202747,6.02,3.61,0.533000,0.476000,1.590000,0.766000,0.957000,1.000000,12.601
missense_variant,PCDH15,MISSENSE,NM_001142769.1:p.Glu1618Ala/c.4853A>C,gAg/gCg,MODERATE,,0.298123,0.6796,rs11003863,1(T),"0.01,0.01(B,B)",0.345(N),-0.9242(T),,chr10,55568972,55568972,T,G,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu1618Ala/c.4853A>C|1790|PCDH15|protein_coding|CODING|NM_001142769.1|36|1),3_prime_UTR_variant(MODIFIER||268|c.*268A>C|1539|PCDH15|protein_coding|CODING|NM_001142770.1|35|1),intron_variant(MODIFIER|||c.4497+1344A>C|1682|PCDH15|protein_coding|CODING|NM_001142771.1|34|1),intron_variant(MODIFIER|||c.4482+1344A>C|1677|PCDH15|protein_coding|CODING|NM_001142772.1|33|1)",,,RCV000037010.1,,0.3425,0.2968,0.1511,0.15,0.12,0.16,,,0.000(P),"2.21,2.55,2.22,-4.28(T,T,T,D)",0.0000(T),0.114,2.581923,5.68,4.56,0.533000,2.159000,4.736000,0.849000,0.800000,1.000000,5.5794
synonymous_variant,PCDH15,SILENT,NM_001142763.1:p.Thr426Thr/c.1278T>C,acT/acC,LOW,COSM3751869(1),0.25599,0.0863,rs7921598,,,,,,chr10,55955485,55955485,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr426Thr/c.1278T>C|1962|PCDH15|protein_coding|CODING|NM_001142763.1|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr421Thr/c.1263T>C|1957|PCDH15|protein_coding|CODING|NM_001142764.1|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr421Thr/c.1263T>C|1886|PCDH15|protein_coding|CODING|NM_001142765.1|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr421Thr/c.1263T>C|1952|PCDH15|protein_coding|CODING|NM_001142766.1|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr384Thr/c.1152T>C|1915|PCDH15|protein_coding|CODING|NM_001142767.1|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr399Thr/c.1197T>C|1935|PCDH15|protein_coding|CODING|NM_001142768.1|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr426Thr/c.1278T>C|1790|PCDH15|protein_coding|CODING|NM_001142769.1|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr421Thr/c.1263T>C|1539|PCDH15|protein_coding|CODING|NM_001142770.1|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr426Thr/c.1278T>C|1682|PCDH15|protein_coding|CODING|NM_001142771.1|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr421Thr/c.1263T>C|1677|PCDH15|protein_coding|CODING|NM_001142772.1|11|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr399Thr/c.1197T>C|1932|PCDH15|protein_coding|CODING|NM_001142773.1|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr421Thr/c.1263T>C|1955|PCDH15|protein_coding|CODING|NM_033056.3|11|1)",,,RCV000039698.1|RCV000086941.1,,0.2065,0.2118,0.1382,0.25,0.48,0.13,,,,,,,,,,,,,,,,
missense_variant,PCDH15,MISSENSE,NM_001142763.1:p.Gly385Ser/c.1153G>A,Ggt/Agt,MODERATE,COSM3751873(1),0.243211,0.0863,rs10825269,0.93(T),"0.004,0.002,0.002,0.003,0.003,0.002,0.004,0.0,0.003,0.003,0.0,0.0,0.001,0.001,0.002(B,B,B,B,B,B,B,B,B,B,B,B,B,B,B)",0.11(N),-0.9508(T),,chr10,55955610,55955610,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly385Ser/c.1153G>A|1962|PCDH15|protein_coding|CODING|NM_001142763.1|12|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly380Ser/c.1138G>A|1957|PCDH15|protein_coding|CODING|NM_001142764.1|11|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly380Ser/c.1138G>A|1886|PCDH15|protein_coding|CODING|NM_001142765.1|11|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly380Ser/c.1138G>A|1952|PCDH15|protein_coding|CODING|NM_001142766.1|11|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly343Ser/c.1027G>A|1915|PCDH15|protein_coding|CODING|NM_001142767.1|10|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly358Ser/c.1072G>A|1935|PCDH15|protein_coding|CODING|NM_001142768.1|10|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly385Ser/c.1153G>A|1790|PCDH15|protein_coding|CODING|NM_001142769.1|12|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly380Ser/c.1138G>A|1539|PCDH15|protein_coding|CODING|NM_001142770.1|11|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly385Ser/c.1153G>A|1682|PCDH15|protein_coding|CODING|NM_001142771.1|12|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly380Ser/c.1138G>A|1677|PCDH15|protein_coding|CODING|NM_001142772.1|11|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly358Ser/c.1072G>A|1932|PCDH15|protein_coding|CODING|NM_001142773.1|10|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly380Ser/c.1138G>A|1955|PCDH15|protein_coding|CODING|NM_033056.3|11|1)",,,RCV000039695.1|RCV000086940.1,,0.2065,0.2104,0.1382,0.23,0.44,0.13,,,0.000(P),"1.25,1.25,1.25,1.25,1.25,1.25,2.53,1.25,1.25,1.25,1.25,1.25,1.25,1.25(T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.096,0.328284,5.17,5.17,-0.332000,0.823000,2.210000,0.919000,1.000000,1.000000,10.7228
missense_variant,ZWINT,MISSENSE,NM_007057.3:p.Arg187Gly/c.559A>G,Agg/Ggg,MODERATE,,0.761981,0.8313,rs2241666,0.56(T),0.003(B),0.57(N),-0.9804(T),,chr10,58118630,58118630,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg187Gly/c.559A>G|277|ZWINT|protein_coding|CODING|NM_007057.3|6|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg187Gly/c.559A>G|277|ZWINT|protein_coding|CODING|NM_032997.2|6|1),intron_variant(MODIFIER|||c.519+40A>G|230|ZWINT|protein_coding|CODING|NM_001005413.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7515,0.7781,0.6382,0.67,0.75,0.63,,0.857498(N),1.000(P),"0.82,0.82,0.82(T,T,T)",0.0000(T),0.03,-1.268236,4.48,1.39,-0.821000,0.061000,0.152000,0.005000,0.000000,0.000000,7.0588
synonymous_variant,BICC1,SILENT,NM_001080512.2:p.Leu869Leu/c.2605T>C,Tta/Cta,LOW,,0.73742,0.755,rs4344442,,,,,,chr10,60577393,60577393,T,C,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu869Leu/c.2605T>C|974|BICC1|protein_coding|CODING|NM_001080512.2|19|1),"IMR90:H3K36me3,HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,0.6861,0.7781,0.7018,0.74,0.76,0.72,,,,,,,,,,,,,,,,
missense_variant,BICC1,MISSENSE,NM_001080512.2:p.Ser943Pro/c.2827T>C,Tcg/Ccg,MODERATE,COSM4144771(1),0.607428,0.7292,rs4948550,0.54(T),0.0(B),-0.695(N),-1.0228(T),,chr10,60588553,60588553,T,C,het,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser943Pro/c.2827T>C|974|BICC1|protein_coding|CODING|NM_001080512.2|21|1),IMR90:H3K36me3,,,,0.6196,0.7334,0.6909,0.62,0.44,0.71,,0.000001(N),0.000(P),1.77(T),0.0000(T),0.048,-0.192996,5.87,3.93,0.533000,0.833000,3.586000,0.986000,0.998000,1.000000,9.7827
missense_variant,PHYHIPL,MISSENSE,NM_032439.3:p.Val342Leu/c.1024G>C,Gtg/Ctg,MODERATE,,0.739617,0.8829,rs2452505,1(T),"0.0,0.0(B,B)",-1.61(N),-0.9689(T),,chr10,61005244,61005244,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val316Leu/c.946G>C|350|PHYHIPL|protein_coding|CODING|NM_001143774.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val342Leu/c.1024G>C|376|PHYHIPL|protein_coding|CODING|NM_032439.3|5|1),downstream_gene_variant(MODIFIER||645||487|FAM13C|protein_coding|CODING|NM_001001971.2||1),downstream_gene_variant(MODIFIER||645||502|FAM13C|protein_coding|CODING|NM_001143773.1||1),downstream_gene_variant(MODIFIER||645||501|FAM13C|protein_coding|CODING|NM_001166698.1||1),downstream_gene_variant(MODIFIER||645||585|FAM13C|protein_coding|CODING|NM_198215.3||1)",HepG2:H3K36me3,,,,0.7198,0.8703,0.8688,0.74,0.54,0.84,,0.002863(N),0.000(P),"1.32,1.32(T,T)",0.0000(T),0.005,-0.625495,5.56,5.56,-0.120000,1.359000,1.542000,0.996000,1.000000,0.997000,10.0761
missense_variant,CCDC6,MISSENSE,NM_005436.4:p.Pro470Thr/c.1408C>A,Ccc/Acc,MODERATE,COSM146940(5),0.435304,0.6121,rs1053266,0.02(D),0.987(D),1.39(L),-0.8700(T),,chr10,61552692,61552692,G,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro470Thr/c.1408C>A|474|CCDC6|protein_coding|CODING|NM_005436.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4417,0.598,0.4503,0.42,0.26,0.50,,0.030472(N),0.000(P),0.54(T),0.0000(T),0.262,3.311702,5.6,5.6,0.563000,2.786000,8.852000,0.996000,1.000000,1.000000,19.9854
synonymous_variant,CCDC6,SILENT,NM_005436.4:p.Pro442Pro/c.1326G>A,ccG/ccA,LOW,COSM1348403(3),0.611621,0.6647,rs1053265,,,,,,chr10,61552774,61552774,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro442Pro/c.1326G>A|474|CCDC6|protein_coding|CODING|NM_005436.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6646,0.7795,0.7505,0.65,0.42,0.77,,,,,,,,,,,,,,,,
synonymous_variant,CCDC6,SILENT,NM_005436.4:p.Val99Val/c.297G>T,gtG/gtT,LOW,COSM4144772(2),0.375399,0.627,rs1171830,,,,,,chr10,61665886,61665886,C,A,hom,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val99Val/c.297G>T|474|CCDC6|protein_coding|CODING|NM_005436.4|1|1),"K562:ZBTB7A,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Nrsf,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.4223,0.4726,0.4523,0.35,0.11,0.47,,,,,,,,,,,,,,,,
missense_variant,ANK3,MISSENSE,NM_020987.3:p.Lys3123Arg/c.9368A>G,aAg/aGg,MODERATE,,0.125799,0.0347,rs10821668,0.54(T),0.004(B),-0.895(N),-1.0595(T),,chr10,61831271,61831271,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys3123Arg/c.9368A>G|4377|ANK3|protein_coding|CODING|NM_020987.3|37|1),intron_variant(MODIFIER|||c.1808-3504A>G|1001|ANK3|protein_coding|CODING|NM_001149.3|13|1),intron_variant(MODIFIER|||c.4388-3504A>G|1861|ANK3|protein_coding|CODING|NM_001204403.1|36|1),intron_variant(MODIFIER|||c.4409-3504A>G|1868|ANK3|protein_coding|CODING|NM_001204404.1|36|1)","IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116349.2,,0.1513,0.2104,0.2724,0.19,0.05,0.26,,0.000497(D),0.000(P),-0.03(T),0.0000(T),0.078,-1.291949,5.23,5.23,0.260000,1.983000,4.653000,0.415000,1.000000,1.000000,9.6214
synonymous_variant,ANK3,SILENT,NM_020987.3:p.Ala2965Ala/c.8895T>C,gcT/gcC,LOW,,0.125998,0.0347,rs10740006,,,,,,chr10,61831744,61831744,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala2965Ala/c.8895T>C|4377|ANK3|protein_coding|CODING|NM_020987.3|37|1),intron_variant(MODIFIER|||c.1808-3977T>C|1001|ANK3|protein_coding|CODING|NM_001149.3|13|1),intron_variant(MODIFIER|||c.4388-3977T>C|1861|ANK3|protein_coding|CODING|NM_001204403.1|36|1),intron_variant(MODIFIER|||c.4409-3977T>C|1868|ANK3|protein_coding|CODING|NM_001204404.1|36|1)","IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116344.2,,0.1524,0.2104,0.2724,0.19,0.05,0.26,,,,,,,,,,,,,,,,
synonymous_variant,ANK3,SILENT,NM_020987.3:p.Thr1015Thr/c.3045G>T,acG/acT,LOW,,0.179113,0.0704,rs3750800,,,,-1.0712(T),,chr10,61868716,61868716,C,A,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr149Thr/c.447G>T|1001|ANK3|protein_coding|CODING|NM_001149.3|5|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr1009Thr/c.3027G>T|1861|ANK3|protein_coding|CODING|NM_001204403.1|28|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr1016Thr/c.3048G>T|1868|ANK3|protein_coding|CODING|NM_001204404.1|28|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr1015Thr/c.3045G>T|4377|ANK3|protein_coding|CODING|NM_020987.3|27|1)",,,RCV000116332.2,,0.316,0.2262,0.3221,0.24,0.07,0.33,,,0.000(P),,0.0000(T),.,0.280589,6.04,-9.89,-0.251000,-2.001000,-2.374000,0.987000,0.333000,0.000000,10.7989
synonymous_variant,ANK3,SILENT,NM_020987.3:p.Asp708Asp/c.2124T>C,gaT/gaC,LOW,,0.0113818,0,rs34552044,,,,,,chr10,61941147,61941147,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp702Asp/c.2106T>C|1861|ANK3|protein_coding|CODING|NM_001204403.1|19|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp691Asp/c.2073T>C|1868|ANK3|protein_coding|CODING|NM_001204404.1|18|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp708Asp/c.2124T>C|4377|ANK3|protein_coding|CODING|NM_020987.3|18|1)",,,RCV000116329.2,,0.0051,0.0173,0.0378,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ANK3,SILENT,NM_020987.3:p.Val156Val/c.468C>G,gtC/gtG,LOW,,0.0686901,0.003,rs71495633,,,,,,chr10,62029934,62029934,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val150Val/c.450C>G|1861|ANK3|protein_coding|CODING|NM_001204403.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val139Val/c.417C>G|1868|ANK3|protein_coding|CODING|NM_001204404.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val156Val/c.468C>G|4377|ANK3|protein_coding|CODING|NM_020987.3|5|1)",,,RCV000116336.2,,0.1135,0.0821,0.1551,0.11,0.03,0.15,,,,,,,,,,,,,,,,
synonymous_variant,C10orf107,SILENT,NM_173554.2:p.Phe163Phe/c.489T>C,ttT/ttC,LOW,COSM1128027(1),0.872005,0.9127,rs1992625,,,,,,chr10,63520698,63520698,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe163Phe/c.489T>C|208|C10orf107|protein_coding|CODING|NM_173554.2|6|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,K562:H3K36me3,IMR90:DNase1,HeLa-S3:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HeLa-S3:H3K27ac,HeLa-S3:Cfos,HMEC:DNase1,K562:DNase1",,,,0.8967,0.8948,0.8022,0.82,0.85,0.80,,,,,,,,,,,,,,,,
missense_variant,RTKN2,MISSENSE,NM_145307.3:p.His462Arg/c.1385A>G,cAt/cGt,MODERATE,,0.588858,0.8998,rs3125734,0.16(T),"0.001,0.0(B,B)",0.84(L),-1.0555(T),,chr10,63958112,63958112,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His462Arg/c.1385A>G|609|RTKN2|protein_coding|CODING|NM_145307.3|12|1),"H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",Rheumatoid_arthritis,,,0.5123,0.7017,0.6362,0.55,0.38,0.64,,0.056732(N),0.000(P),"1.02,1.61,1.63(T,T,T)",0.0000(T),0.03,-0.528166,4.7,2.33,0.533000,0.379000,1.674000,0.915000,0.949000,0.909000,9.1159
synonymous_variant,RTKN2,SILENT,NM_145307.3:p.Val176Val/c.528G>A,gtG/gtA,LOW,,0.906949,0.9881,rs3852448,,,,,,chr10,63995983,63995983,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val176Val/c.528G>A|609|RTKN2|protein_coding|CODING|NM_145307.3|6|1),downstream_gene_variant(MODIFIER||1926||163|RTKN2|protein_coding|CODING|NM_001282941.1||1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.8425,0.8991,0.8579,0.89,0.92,0.87,,,,,,,,,,,,,,,,
missense_variant,ZNF365,MISSENSE,NM_014951.2:p.Ala337Ser/c.1009G>T,Gcc/Tcc,MODERATE,,0.44389,0.6915,rs3758490,0.77(T),"0.033,0.053(B,B)",1.245(L),-0.9353(T),,chr10,64159333,64159333,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala337Ser/c.1009G>T|407|ZNF365|protein_coding|CODING|NM_014951.2|5|1),intron_variant(MODIFIER|||c.924+10998G>T|333|ZNF365|protein_coding|CODING|NM_199450.2|3|1),intron_variant(MODIFIER|||c.924+10998G>T|462|ZNF365|protein_coding|CODING|NM_199451.2|3|1)","HMEC:H3K36me3,NH-A:DNase1,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.455,0.5634,0.6024,0.46,0.17,0.61,,,0.000(P),0.9(T),0.0000(T),0.034,1.486583,5.76,-1.85,-0.312000,-0.006000,0.106000,0.808000,0.998000,0.940000,7.4131
missense_variant,ADO,MISSENSE,NM_032804.5:p.Gly25Trp/c.73G>T,Ggg/Tgg,MODERATE,COSM3751890(5),0.211661,0.1677,rs2236295,0.19(T),0.584(P),1.04(L),-0.9175(T),,chr10,64564892,64564892,G,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly25Trp/c.73G>T|270|ADO|protein_coding|CODING|NM_032804.5|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1",,,,0.3313,0.2305,0.3678,0.26,0.08,0.36,,,0.962(P),1.91(T),0.0000(T),0.2,3.401343,3.86,1.95,0.651000,0.948000,2.261000,0.783000,0.994000,0.998000,5.5759
missense_variant,ADO,MISSENSE,NM_032804.5:p.Pro39Ala/c.115C>G,Ccg/Gcg,MODERATE,COSM3751891(3),0.245407,0.1766,rs10995311,0.88(T),0.001(B),0.345(N),-0.9508(T),,chr10,64564934,64564934,C,G,het,missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro39Ala/c.115C>G|270|ADO|protein_coding|CODING|NM_032804.5|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1",,,,0.411,0.2522,0.4145,0.31,0.10,0.41,,0.501974(U),0.767(P),1.93(T),0.0000(T),0.036,1.285663,4.75,0.214,0.651000,0.131000,1.377000,0.816000,0.076000,0.029000,3.9597
synonymous_variant,ADO,SILENT,NM_032804.5:p.Glu64Glu/c.192G>A,gaG/gaA,LOW,COSM3751892(1),0.077476,0.1875,rs61744064,,,,,,chr10,64565011,64565011,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu64Glu/c.192G>A|270|ADO|protein_coding|CODING|NM_032804.5|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,CD4:H2BK5me1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,K562:DNase1",,,,0.0716,0.0605,0.0795,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,EGR2,SILENT,NM_000399.3:p.Pro209Pro/c.627G>A,ccG/ccA,LOW,,0.986022,1,rs224083,,,,,,chr10,64573771,64573771,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro209Pro/c.627G>A|476|EGR2|protein_coding|CODING|NM_000399.3|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro209Pro/c.627G>A|476|EGR2|protein_coding|CODING|NM_001136177.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro209Pro/c.627G>A|476|EGR2|protein_coding|CODING|NM_001136178.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro159Pro/c.477G>A|426|EGR2|protein_coding|CODING|NM_001136179.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,JMJD1C,SILENT,NM_032776.2:p.Asp2263Asp/c.6789C>T,gaC/gaT,LOW,,0.58107,0.6369,rs3211105,,,,-1.0671(T),,chr10,64945364,64945364,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2081Asp/c.6243C>T|2358|JMJD1C|protein_coding|CODING|NM_001282948.1|19|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2263Asp/c.6789C>T|2540|JMJD1C|protein_coding|CODING|NM_032776.2|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6933,0.5389,0.7962,0.68,0.42,0.80,,,0.000(P),,0.0000(T),.,0.718083,5.71,-7.74,-1.022000,-1.694000,-0.379000,0.947000,0.722000,0.117000,21.7453
synonymous_variant,JMJD1C,SILENT,NM_032776.2:p.Arg1328Arg/c.3984T>A,cgT/cgA,LOW,,0.986821,1,rs1904294,,,,-1.0257(T),,chr10,64967445,64967445,A,T,hom,"synonymous_variant(LOW|SILENT|cgT/cgA|p.Arg1146Arg/c.3438T>A|2358|JMJD1C|protein_coding|CODING|NM_001282948.1|9|1),synonymous_variant(LOW|SILENT|cgT/cgA|p.Arg1328Arg/c.3984T>A|2540|JMJD1C|protein_coding|CODING|NM_032776.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,1,0.9986,1,0.98,0.95,1.00,,,0.000(P),,0.0000(T),.,0.297093,5.94,0.898,-0.336000,-0.078000,0.271000,0.985000,0.997000,0.912000,1.3305
missense_variant,JMJD1C,MISSENSE,NM_032776.2:p.Met591Val/c.1771A>G,Atg/Gtg,MODERATE,,0.0457268,0,rs41274072,0.84(T),"0.0,0.0(B,B)",0(N),-1.0589(T),,chr10,64974156,64974156,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met409Val/c.1225A>G|2358|JMJD1C|protein_coding|CODING|NM_001282948.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met591Val/c.1771A>G|2540|JMJD1C|protein_coding|CODING|NM_032776.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0317,0.0308,0.05,0.11,0.03,,0.572846(N),1.000(P),"1.0,1.0,1.0,1.0(T,T,T,T)",0.0002(T),0.072,-0.802602,6.03,-1.05,-0.250000,-0.080000,-0.151000,0.867000,0.031000,0.003000,0.0262
missense_variant,JMJD1C,MISSENSE,NM_032776.2:p.Ser464Thr/c.1390T>A,Tcg/Acg,MODERATE,,0.511382,0.377,rs10761725,0.28(T),"0.036,0.026(B,B)",1.04(L),-1.0876(T),,chr10,64974537,64974537,A,T,het,"missense_variant(MODERATE|MISSENSE|Tcg/Acg|p.Ser282Thr/c.844T>A|2358|JMJD1C|protein_coding|CODING|NM_001282948.1|7|1),missense_variant(MODERATE|MISSENSE|Tcg/Acg|p.Ser464Thr/c.1390T>A|2540|JMJD1C|protein_coding|CODING|NM_032776.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6718,0.4669,0.7783,0.66,0.41,0.78,,0.021583(N),1.000(P),"2.52,2.52,2.52,2.52(T,T,T,T)",0.0000(T),0.103,0.703933,5.71,3.24,0.459000,0.951000,0.761000,0.721000,0.958000,0.631000,8.7222
missense_variant,SIRT1,MISSENSE,NM_012238.4:p.Val620Ala/c.1859T>C,gTg/gCg,MODERATE,,,,,0.77(T),"0.05,0.05(B,B)",1.39(L),-1.0319(T),,chr10,69672732,69672732,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val325Ala/c.974T>C|452|SIRT1|protein_coding|CODING|NM_001142498.1|7|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val620Ala/c.1859T>C|747|SIRT1|protein_coding|CODING|NM_012238.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.022798(N),0.978(D),"0.95,0.95,0.95,0.95(T,T,T,T)",0.0902(T),0.534,2.250315,6.03,6.03,0.533000,2.308000,4.361000,0.978000,1.000000,1.000000,16.2316
synonymous_variant,HERC4,SILENT,NM_022079.2:p.Ser337Ser/c.1011C>T,agC/agT,LOW,COSM3751897(1),0.519369,0.8413,rs866255,,,,,,chr10,69773841,69773841,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser337Ser/c.1011C>T|979|HERC4|protein_coding|CODING|NM_001278185.1|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser82Ser/c.246C>T|794|HERC4|protein_coding|CODING|NM_001278186.1|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser337Ser/c.1011C>T|1049|HERC4|protein_coding|CODING|NM_015601.3|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser337Ser/c.1011C>T|1057|HERC4|protein_coding|CODING|NM_022079.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5695,0.4741,0.331,0.35,0.38,0.33,,,,,,,,,,,,,,,,
synonymous_variant,MYPN,SILENT,NM_001256267.1:p.Ser549Ser/c.1647T>C,tcT/tcC,LOW,,0.482628,0.3125,rs2673794,,,,,,chr10,69926097,69926097,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser549Ser/c.1647T>C|1320|MYPN|protein_coding|CODING|NM_001256267.1|11|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser255Ser/c.765T>C|1026|MYPN|protein_coding|CODING|NM_001256268.1|14|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser549Ser/c.1647T>C|1320|MYPN|protein_coding|CODING|NM_032578.3|10|1),non_coding_exon_variant(MODIFIER|||n.1074T>C||MYPN||CODING|NR_045662.3|10|1),non_coding_exon_variant(MODIFIER|||n.1915T>C||MYPN||CODING|NR_045663.3|9|1)","GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024488.2,,0.5838,0.6844,0.6859,0.58,0.35,0.70,,,,,,,,,,,,,,,,
synonymous_variant,MYPN,SILENT,NM_001256267.1:p.Thr623Thr/c.1869C>A,acC/acA,LOW,,0.116613,0.0962,rs61854624,,,,,,chr10,69926319,69926319,C,A,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr623Thr/c.1869C>A|1320|MYPN|protein_coding|CODING|NM_001256267.1|11|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr329Thr/c.987C>A|1026|MYPN|protein_coding|CODING|NM_001256268.1|14|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr623Thr/c.1869C>A|1320|MYPN|protein_coding|CODING|NM_032578.3|10|1),non_coding_exon_variant(MODIFIER|||n.1296C>A||MYPN||CODING|NR_045662.3|10|1),non_coding_exon_variant(MODIFIER|||n.2137C>A||MYPN||CODING|NR_045663.3|9|1)","HSMM:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024496.2,,0.1309,0.2622,0.164,0.13,0.03,0.17,,,,,,,,,,,,,,,,
synonymous_variant,MYPN,SILENT,NM_001256267.1:p.Pro625Pro/c.1875C>T,ccC/ccT,LOW,,0.157748,0.0962,rs2673793,,,,,,chr10,69926325,69926325,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro625Pro/c.1875C>T|1320|MYPN|protein_coding|CODING|NM_001256267.1|11|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro331Pro/c.993C>T|1026|MYPN|protein_coding|CODING|NM_001256268.1|14|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro625Pro/c.1875C>T|1320|MYPN|protein_coding|CODING|NM_032578.3|10|1),non_coding_exon_variant(MODIFIER|||n.1302C>T||MYPN||CODING|NR_045662.3|10|1),non_coding_exon_variant(MODIFIER|||n.2143C>T||MYPN||CODING|NR_045663.3|9|1)","HSMM:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024489.2,,0.1472,0.2767,0.1759,0.17,0.14,0.19,,,,,,,,,,,,,,,,
missense_variant,MYPN,MISSENSE,NM_001256267.1:p.Phe628Leu/c.1884C>G,ttC/ttG,MODERATE,,0.316494,0.2163,rs10823148,,"0.009,0.006,0.003(B,B,B)",0.69(N),-0.9286(T),,chr10,69926334,69926334,C,G,het,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe628Leu/c.1884C>G|1320|MYPN|protein_coding|CODING|NM_001256267.1|11|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe334Leu/c.1002C>G|1026|MYPN|protein_coding|CODING|NM_001256268.1|14|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe628Leu/c.1884C>G|1320|MYPN|protein_coding|CODING|NM_032578.3|10|1),non_coding_exon_variant(MODIFIER|||n.1311C>G||MYPN||CODING|NR_045662.3|10|1),non_coding_exon_variant(MODIFIER|||n.2152C>G||MYPN||CODING|NR_045663.3|9|1)","HSMM:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024497.2,,0.4366,0.4049,0.5099,0.40,0.17,0.51,,0.000149(D),0.000(P),"0.51,0.57,0.55(T,T,T)",0.0000(T),0.218,-0.777515,5.29,4.3,0.655000,2.455000,2.051000,0.087000,0.994000,1.000000,7.6139
missense_variant,MYPN,MISSENSE,NM_001256267.1:p.Ser691Asn/c.2072G>A,aGc/aAc,MODERATE,,0.335863,0.2649,rs10997975,,"0.0,0.0,0.0(B,B,B)",-1.15(N),-0.9156(T),,chr10,69933921,69933921,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser691Asn/c.2072G>A|1320|MYPN|protein_coding|CODING|NM_001256267.1|12|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser397Asn/c.1190G>A|1026|MYPN|protein_coding|CODING|NM_001256268.1|15|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser691Asn/c.2072G>A|1320|MYPN|protein_coding|CODING|NM_032578.3|11|1),non_coding_exon_variant(MODIFIER|||n.1499G>A||MYPN||CODING|NR_045662.3|11|1),non_coding_exon_variant(MODIFIER|||n.2340G>A||MYPN||CODING|NR_045663.3|10|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,"RCV000024490.2,RCV000024523.1",,0.4233,0.4035,0.4851,0.39,0.22,0.48,,0.063361(N),0.914(P),"0.31,0.42,0.4(T,T,T)",0.0000(T),0.013,-0.655690,5.51,3.21,-0.254000,0.088000,0.428000,0.906000,0.353000,0.491000,8.0938
missense_variant,MYPN,MISSENSE,NM_001256267.1:p.Ser707Asn/c.2120G>A,aGt/aAt,MODERATE,,0.32508,0.2163,rs7916821,,"0.068,0.032,0.031(B,B,B)",1.1(L),-0.9333(T),,chr10,69933969,69933969,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser707Asn/c.2120G>A|1320|MYPN|protein_coding|CODING|NM_001256267.1|12|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser413Asn/c.1238G>A|1026|MYPN|protein_coding|CODING|NM_001256268.1|15|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser707Asn/c.2120G>A|1320|MYPN|protein_coding|CODING|NM_032578.3|11|1),non_coding_exon_variant(MODIFIER|||n.1547G>A||MYPN||CODING|NR_045662.3|11|1),non_coding_exon_variant(MODIFIER|||n.2388G>A||MYPN||CODING|NR_045663.3|10|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024491.2,,0.4182,0.4035,0.4851,0.39,0.22,0.48,,0.088436(N),0.000(P),"0.35,0.44,0.42(T,T,T)",0.0000(T),0.104,1.680407,5.64,4.68,0.655000,2.832000,0.501000,0.719000,1.000000,0.513000,8.7519
missense_variant,MYPN,MISSENSE,NM_001256267.1:p.Ser803Arg/c.2409C>G,agC/agG,MODERATE,,0.471446,0.3512,rs3814182,,"0.397,0.417,0.12(B,B,B)",1.445(L),-1.0730(T),,chr10,69934258,69934258,C,G,het,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser803Arg/c.2409C>G|1320|MYPN|protein_coding|CODING|NM_001256267.1|12|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser509Arg/c.1527C>G|1026|MYPN|protein_coding|CODING|NM_001256268.1|15|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser803Arg/c.2409C>G|1320|MYPN|protein_coding|CODING|NM_032578.3|11|1),non_coding_exon_variant(MODIFIER|||n.1836C>G||MYPN||CODING|NR_045662.3|11|1),non_coding_exon_variant(MODIFIER|||n.2677C>G||MYPN||CODING|NR_045663.3|10|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024501.2,,0.5389,0.4597,0.5666,0.52,0.47,0.55,,0.000815(D),0.001(P),"0.33,0.38,0.36(T,T,T)",0.0000(T),0.386,2.039690,5.8,-9.63,-0.136000,-1.913000,-3.502000,0.876000,0.265000,0.000000,19.5953
missense_variant,MYPN,MISSENSE,NM_001256267.1:p.Gly804Arg/c.2410G>A,Gga/Aga,MODERATE,COSM1348669(1),0.0103834,0,rs62620248,,"0.384,0.174,0.084(B,B,B)",1.355(L),-0.9979(T),,chr10,69934259,69934259,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly804Arg/c.2410G>A|1320|MYPN|protein_coding|CODING|NM_001256267.1|12|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly510Arg/c.1528G>A|1026|MYPN|protein_coding|CODING|NM_001256268.1|15|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly804Arg/c.2410G>A|1320|MYPN|protein_coding|CODING|NM_032578.3|11|1),non_coding_exon_variant(MODIFIER|||n.1837G>A||MYPN||CODING|NR_045662.3|11|1),non_coding_exon_variant(MODIFIER|||n.2678G>A||MYPN||CODING|NR_045663.3|10|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024502.2,,0.0031,0.0245,0.0288,0.02,0.00,0.04,,0.000293(D),1.000(N),"0.5,0.59,0.57(T,T,T)",0.0379(T),0.122,2.587761,5.8,5.8,0.655000,2.741000,2.019000,0.889000,0.968000,0.981000,12.5405
synonymous_variant,MYPN,SILENT,NM_001256267.1:p.Val962Val/c.2886T>C,gtT/gtC,LOW,,0.984625,1,rs10733838,,,,,,chr10,69948844,69948844,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val962Val/c.2886T>C|1320|MYPN|protein_coding|CODING|NM_001256267.1|14|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val668Val/c.2004T>C|1026|MYPN|protein_coding|CODING|NM_001256268.1|17|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val962Val/c.2886T>C|1320|MYPN|protein_coding|CODING|NM_032578.3|13|1),non_coding_exon_variant(MODIFIER|||n.2313T>C||MYPN||CODING|NR_045662.3|13|1),non_coding_exon_variant(MODIFIER|||n.3015T>C||MYPN||CODING|NR_045663.3|11|1)","HUVEC:H3K27me3,HSMM:H3K36me3",,RCV000024492.1,,1,0.9986,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,MYPN,MISSENSE,NM_001256267.1:p.Pro1135Thr/c.3403C>A,Cca/Aca,MODERATE,,0.340256,0.2391,rs7079481,,"0.998,0.999,1.0(D,D,D)",1.06(L),-0.9351(T),,chr10,69959242,69959242,C,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro1135Thr/c.3403C>A|1320|MYPN|protein_coding|CODING|NM_001256267.1|18|1),missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro841Thr/c.2521C>A|1026|MYPN|protein_coding|CODING|NM_001256268.1|21|1),missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro1135Thr/c.3403C>A|1320|MYPN|protein_coding|CODING|NM_032578.3|17|1),non_coding_exon_variant(MODIFIER|||n.2830C>A||MYPN||CODING|NR_045662.3|17|1),non_coding_exon_variant(MODIFIER|||n.3532C>A||MYPN||CODING|NR_045663.3|15|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3",,RCV000024493.2,,0.4202,0.402,0.4841,0.41,0.26,0.48,,0.000000(D),0.000(P),"-0.65,-0.65,-0.65(T,T,T)",0.0000(T),0.56,4.791076,5.38,5.38,0.655000,2.813000,7.595000,0.804000,1.000000,1.000000,19.3311
missense_variant,PBLD,MISSENSE,NM_022129.3:p.His257Arg/c.770A>G,cAc/cGc,MODERATE,,0.299321,0.2946,rs4142048,0.59(T),0.0(B),-1.59(N),-0.9428(T),,chr10,70044031,70044031,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His257Arg/c.770A>G|288|PBLD|protein_coding|CODING|NM_022129.3|10|1),downstream_gene_variant(MODIFIER||807||280|PBLD|protein_coding|CODING|NM_001033083.1||1)","HSMM:H3K27ac,IMR90:DNase1,HSMM:DNase1",,,,0.3108,0.3847,0.1968,0.23,0.32,0.19,,0.716886(N),1.000(P),"1.64,1.64,1.64(T,T,T)",0.0000(T),0.02,-1.582466,5.76,-3.42,-2.815000,-1.970000,-4.606000,0.039000,0.000000,0.000000,8.1479
synonymous_variant,PBLD,SILENT,NM_022129.3:p.Asp117Asp/c.351T>C,gaT/gaC,LOW,,0.739018,0.8591,rs10823171,,,,,,chr10,70051928,70051928,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp117Asp/c.351T>C|280|PBLD|protein_coding|CODING|NM_001033083.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp117Asp/c.351T>C|288|PBLD|protein_coding|CODING|NM_022129.3|5|1)",,,,,0.7505,0.7089,0.8211,0.75,0.63,0.81,,,,,,,,,,,,,,,,
synonymous_variant,RUFY2,SILENT,NM_017987.4:p.Leu631Leu/c.1891C>T,Ctg/Ttg,LOW,,0.803115,0.872,rs1162753,,,,,,chr10,70105560,70105560,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu631Leu/c.1891C>T|641|RUFY2|protein_coding|CODING|NM_017987.4|18|1),non_coding_exon_variant(MODIFIER|||n.2066C>T||RUFY2||CODING|NR_103475.1|18|1),non_coding_exon_variant(MODIFIER|||n.1891C>T||RUFY2||CODING|NR_103476.1|18|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7157,0.7536,0.8618,0.84,0.81,0.85,,,,,,,,,,,,,,,,
missense_variant,TET1,MISSENSE,NM_030625.2:p.Asp162Gly/c.485A>G,gAc/gGc,MODERATE,COSM3751902(2),0.258586,0.3919,rs10823229,0.08(T),0.081(B),0.55(N),-0.9152(T),,chr10,70332580,70332580,A,G,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp162Gly/c.485A>G|2136|TET1|protein_coding|CODING|NM_030625.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.3047,0.2622,0.3877,0.29,0.08,0.39,,0.083983(N),1.000(P),3.08(T),0.0000(T),0.076,0.234823,5.24,4.08,0.460000,0.803000,0.745000,0.112000,0.072000,0.457000,9.424
missense_variant,TET1,MISSENSE,NM_030625.2:p.Ile1123Met/c.3369A>G,atA/atG,MODERATE,COSM4144794(1),0.693291,0.8502,rs3998860,0.03(D),0.01(B),0.55(N),-0.9977(T),,chr10,70405855,70405855,A,G,hom,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile1123Met/c.3369A>G|2136|TET1|protein_coding|CODING|NM_030625.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.68,0.7781,0.8091,0.72,0.50,0.83,,0.253068(N),1.000(P),3.12(T),0.0000(T),0.03,0.263111,5.49,-3.65,0.460000,-0.205000,0.372000,0.250000,0.000000,0.010000,4.2637
synonymous_variant,CCAR1,SILENT,NM_018237.3:p.Thr160Thr/c.480G>A,acG/acA,LOW,COSM4144795(1),0.861422,0.7401,rs1300253,,,,,,chr10,70502288,70502288,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr145Thr/c.435G>A|1135|CCAR1|protein_coding|CODING|NM_001282959.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr145Thr/c.435G>A|1135|CCAR1|protein_coding|CODING|NM_001282960.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr160Thr/c.480G>A|1150|CCAR1|protein_coding|CODING|NM_018237.3|6|1),non_coding_exon_variant(MODIFIER|||n.675G>A||CCAR1||CODING|NR_104262.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8507,0.9222,0.8618,0.88,0.92,0.86,,,,,,,,,,,,,,,,
synonymous_variant,CCAR1,SILENT,NM_018237.3:p.Glu688Glu/c.2064A>G,gaA/gaG,LOW,,0.00179712,0,rs61734872,,,,-0.7933(T),,chr10,70520907,70520907,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu673Glu/c.2019A>G|1135|CCAR1|protein_coding|CODING|NM_001282959.1|15|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu673Glu/c.2019A>G|1135|CCAR1|protein_coding|CODING|NM_001282960.1|15|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu688Glu/c.2064A>G|1150|CCAR1|protein_coding|CODING|NM_018237.3|16|1),non_coding_exon_variant(MODIFIER|||n.2048A>G||CCAR1||CODING|NR_104262.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0072,0.004,0.00,0.00,0.00,,,1.000(D),,0.1888(T),.,0.985518,5.62,4.47,0.533000,0.933000,0.801000,0.996000,1.000000,1.000000,11.4858
missense_variant,STOX1,MISSENSE,NM_001130161.2:p.Tyr153His/c.457T>C,Tac/Cac,MODERATE,COSM3751904(2),0.61242,0.9008,rs1341667,0.29(T),"0.135,0.231,0.135(B,B,B)",0.975(L),-0.9922(T),,chr10,70641860,70641860,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr153His/c.457T>C|227|STOX1|protein_coding|CODING|NM_001130159.2|2|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr153His/c.457T>C|169|STOX1|protein_coding|CODING|NM_001130160.2|2|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr153His/c.457T>C|989|STOX1|protein_coding|CODING|NM_001130161.2|2|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr153His/c.457T>C|989|STOX1|protein_coding|CODING|NM_152709.4|2|1)",HUVEC:H3K27me3,,RCV000001789.1,,0.5982,0.6081,0.6412,0.57,0.42,0.64,,0.000056(U),0.076(P),"-1.03,-1.03,-1.03,-1.03,-1.03(T,T,T,T,T)",0.0000(T),0.414,1.919961,5.57,4.44,0.482000,1.055000,3.031000,0.981000,0.990000,0.997000,11.6046
synonymous_variant,DDX50,SILENT,NM_024045.1:p.Tyr539Tyr/c.1617C>T,taC/taT,LOW,COSM4144798(1),0.953674,0.9871,rs5030895,,,,,,chr10,70696713,70696713,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr539Tyr/c.1617C>T|737|DDX50|protein_coding|CODING|NM_024045.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9254,0.9568,0.9066,0.93,0.97,0.91,,,,,,,,,,,,,,,,
synonymous_variant,DDX50,SILENT,NM_024045.1:p.Gly628Gly/c.1884A>G,ggA/ggG,LOW,COSM4144799(1),0.65595,0.9038,rs5030900,,,,,,chr10,70700944,70700944,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly628Gly/c.1884A>G|737|DDX50|protein_coding|CODING|NM_024045.1|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.6326,0.6412,0.61,0.55,0.65,,,,,,,,,,,,,,,,
missense_variant,KIAA1279,MISSENSE,NM_015634.3:p.Gly66Ser/c.196G>A,Ggc/Agc,MODERATE,COSM3751905(3),0.353834,0.3562,rs2255607,0.75(T),0.001(B),0.205(N),-0.9271(T),,chr10,70748784,70748784,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly66Ser/c.196G>A|621|KIAA1279|protein_coding|CODING|NM_015634.3|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.2812,0.3156,0.4811,0.44,0.34,0.48,,0.058552(N),1.000(P),1.0(T),0.0000(T),0.026,-0.463542,5.24,-0.111,-0.158000,-0.053000,0.211000,0.047000,0.002000,0.000000,3.8437
synonymous_variant,KIAA1279,SILENT,NM_015634.3:p.Leu370Leu/c.1110G>A,ctG/ctA,LOW,,,,,,,,,,chr10,70775416,70775416,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu370Leu/c.1110G>A|621|KIAA1279|protein_coding|CODING|NM_015634.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SRGN,MISSENSE,NM_002727.2:p.Arg31Gln/c.92G>A,cGg/cAg,MODERATE,,0.589657,0.503,rs2229498,0.94(T),0.035(B),-0.345(N),-0.9763(T),,chr10,70856852,70856852,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg31Gln/c.92G>A|158|SRGN|protein_coding|CODING|NM_002727.2|2|1),intron_variant(MODIFIER|||n.166-6775G>A||SRGN||CODING|NR_036430.1|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K36me3",,,,0.726,0.6066,0.8499,0.70,0.42,0.84,,0.872598(N),1.000(P),0.79(T),0.0000(T),0.074,-0.099143,5.28,-0.986,-1.282000,-0.372000,-0.356000,0.143000,0.282000,0.571000,10.3335
missense_variant,HKDC1,MISSENSE,NM_025130.3:p.Thr124Ile/c.371C>T,aCa/aTa,MODERATE,,0.533946,0.7361,rs874556,0.13(T),0.001(B),1.79(L),-0.9344(T),,chr10,70992664,70992664,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr124Ile/c.371C>T|917|HKDC1|protein_coding|CODING|NM_025130.3|3|1),upstream_gene_variant(MODIFIER||418|||LOC101928994||NON_CODING|NR_120648.1||1)","CD4:DNase1,NHEK:H3K4me1,HepG2:H3K36me3",,,,0.4785,0.4539,0.4135,0.45,0.53,0.41,,0.602464(N),1.000(P),"-5.36,-5.36(D,D)",0.0000(T),0.069,1.972198,4.6,1.69,0.561000,0.168000,1.080000,0.226000,0.001000,0.000000,5.6728
synonymous_variant,HKDC1,SILENT,NM_025130.3:p.Phe601Phe/c.1803C>T,ttC/ttT,LOW,COSM3751907(4),0.13758,0.0794,rs386484431,,,,,,chr10,71010375,71010375,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe601Phe/c.1803C>T|917|HKDC1|protein_coding|CODING|NM_025130.3|12|1),"IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1912,0.1945,0.2674,0.18,0.05,0.24,,,,,,,,,,,,,,,,
missense_variant,HKDC1,MISSENSE,NM_025130.3:p.Trp721Arg/c.2161T>C,Tgg/Cgg,MODERATE,,0.990016,0.995,rs1111335,1(T),0.0(B),-2.77(N),-0.9201(T),,chr10,71018660,71018660,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp721Arg/c.2161T>C|917|HKDC1|protein_coding|CODING|NM_025130.3|15|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9939,1,1,0.99,0.98,1.00,,0.020049(N),1.000(P),"-3.65,-3.65(D,D)",0.0000(T),0.198,-0.762842,5.39,2.0,-0.374000,0.217000,-0.388000,0.872000,1.000000,0.021000,10.3697
missense_variant,HKDC1,MISSENSE,NM_025130.3:p.Asn917Lys/c.2751C>A,aaC/aaA,MODERATE,,0.336262,0.5942,rs386620342,0.02(D),0.0(B),0(N),-0.9872(T),,chr10,71026510,71026510,C,A,het,missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn917Lys/c.2751C>A|917|HKDC1|protein_coding|CODING|NM_025130.3|18|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2454,0.4914,0.3559,0.29,0.16,0.35,,0.571730(N),1.000(P),-4.22(D),0.0000(T),0.088,2.169602,4.81,0.702,0.655000,0.029000,0.590000,0.482000,0.034000,0.998000,4.5356
missense_variant,HK1,MISSENSE,NM_033500.2:p.His7Arg/c.20A>G,cAt/cGt,MODERATE,,0.90635,0.994,rs906220,0.56(T),0.005(B),-0.09(N),-1.0172(T),,chr10,71060610,71060610,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His7Arg/c.20A>G|905|HK1|protein_coding|CODING|NM_033500.2|5|1),intron_variant(MODIFIER|||c.75+5174A>G|921|HK1|protein_coding|CODING|NM_033497.2|4|1),intron_variant(MODIFIER|||c.75+5174A>G|921|HK1|protein_coding|CODING|NM_033498.2|4|1)",,,,,0.8937,0.9107,0.9274,0.90,0.85,0.92,,,1.000(P),"0.62,0.62(T,T)",0.0000(T),0.188,-1.003612,0.51,-1.02,-0.642000,-1.388000,-0.382000,0.011000,0.001000,0.006000,2.7331
synonymous_variant,HK1,SILENT,NM_033497.2:p.Leu30Leu/c.90C>G,ctC/ctG,LOW,COSM3751911(2),0.283347,0.122,rs1133189,,,,,,chr10,71103597,71103597,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu26Leu/c.78C>G|917|HK1|protein_coding|CODING|NM_000188.2|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu25Leu/c.75C>G|916|HK1|protein_coding|CODING|NM_033496.2|2|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu30Leu/c.90C>G|921|HK1|protein_coding|CODING|NM_033497.2|5|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu30Leu/c.90C>G|921|HK1|protein_coding|CODING|NM_033498.2|5|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu14Leu/c.42C>G|905|HK1|protein_coding|CODING|NM_033500.2|6|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2526,0.2334,0.3728,0.38,0.39,0.37,,,,,,,,,,,,,,,,
synonymous_variant,HK1,SILENT,NM_033497.2:p.Lys485Lys/c.1455G>A,aaG/aaA,LOW,COSM4144803(1),0.778754,0.6409,rs748235,,,,,,chr10,71142420,71142420,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys481Lys/c.1443G>A|917|HK1|protein_coding|CODING|NM_000188.2|10|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys480Lys/c.1440G>A|916|HK1|protein_coding|CODING|NM_033496.2|10|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys485Lys/c.1455G>A|921|HK1|protein_coding|CODING|NM_033497.2|13|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys485Lys/c.1455G>A|921|HK1|protein_coding|CODING|NM_033498.2|13|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys469Lys/c.1407G>A|905|HK1|protein_coding|CODING|NM_033500.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8824,0.6254,0.7763,0.82,0.88,0.79,,,,,,,,,,,,,,,,
missense_variant,TACR2,MISSENSE,NM_001057.2:p.Met245Lys/c.734T>A,aTg/aAg,MODERATE,COSM3751912(3),1,1,rs55953810,1(T),0.0(B),-3.08(N),-0.9452(T),,chr10,71168685,71168685,A,T,hom,missense_variant(MODERATE|MISSENSE|aTg/aAg|p.Met245Lys/c.734T>A|398|TACR2|protein_coding|CODING|NM_001057.2|3|1),"NHEK:CTCF,HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,K562:PolII,HUVEC:Max,HeLa-S3:Max,CD4:DNase1,K562:CTCF,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,GM12878:ELF1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HMEC:CTCF,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,K562:ELF1,K562:Egr1,K562:Rad21,CD4:CTCF,HepG2:CTCF,CD4:PolII,HepG2:DNase1,HMEC:DNase1,GM12878:Max,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6,GM06990:CTCF",,,,1,1,1,,,,,0.000000(N),0.997(P),"-0.4,-0.4(T,T)",0.0000(T),0.206,0.633562,4.88,4.88,-0.364000,0.825000,3.846000,0.698000,1.000000,1.000000,10.0612
missense_variant,TSPAN15,MISSENSE,NM_012339.3:p.Gln93His/c.279A>T,caA/caT,MODERATE,COSM3751913(1),0.00978435,0,rs62625031,0.13(T),0.026(B),1.295(L),-0.9643(T),,chr10,71243629,71243629,A,T,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln93His/c.279A>T|294|TSPAN15|protein_coding|CODING|NM_012339.3|2|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0144,0.0328,0.03,0.01,0.04,,0.000000(D),0.999(D),"-1.23,2.37(T,T)",0.0850(T),0.645,3.491135,5.81,-3.41,0.459000,-0.493000,0.272000,0.435000,0.661000,0.963000,13.2105
missense_variant,NEUROG3,MISSENSE,NM_020999.3:p.Phe199Ser/c.596T>C,tTt/tCt,MODERATE,COSM3749111(8),0.429912,0.3125,rs4536103,0.87(T),0.0(B),-1.04(N),-0.9489(T),,chr10,71332204,71332204,A,G,het,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe199Ser/c.596T>C|214|NEUROG3|protein_coding|CODING|NM_020999.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000117780.2,,0.4131,0.611,0.666,0.59,0.39,0.68,,0.023369(N),1.000(P),-3.14(D),0.0000(T),0.034,-0.182485,4.83,2.94,-0.119000,0.643000,1.496000,0.003000,0.179000,0.013000,9.496
synonymous_variant,C10orf35,SILENT,NM_145306.2:p.Asp13Asp/c.39T>C,gaT/gaC,LOW,,0.194289,0.0407,rs1381932,,,,,,chr10,71391538,71391538,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp13Asp/c.39T>C|121|C10orf35|protein_coding|CODING|NM_145306.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.2495,0.1513,0.2087,0.25,0.29,0.22,,,,,,,,,,,,,,,,
synonymous_variant,C10orf35,SILENT,NM_145306.2:p.Asn36Asn/c.108C>T,aaC/aaT,LOW,COSM3751914(2),0.708466,0.8909,rs12020,,,,,,chr10,71392557,71392557,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn36Asn/c.108C>T|121|C10orf35|protein_coding|CODING|NM_145306.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6933,0.7392,0.665,0.65,0.62,0.67,,,,,,,,,,,,,,,,
synonymous_variant,C10orf35,SILENT,NM_145306.2:p.Leu81Leu/c.243T>C,ctT/ctC,LOW,COSM3751916(2),0.711062,0.8919,rs1052152,,,,,,chr10,71392692,71392692,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu81Leu/c.243T>C|121|C10orf35|protein_coding|CODING|NM_145306.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6922,0.7406,0.665,0.65,0.63,0.67,,,,,,,,,,,,,,,,
synonymous_variant,COL13A1,SILENT,NM_001130103.1:p.Thr86Thr/c.258G>A,acG/acA,LOW,COSM427824(5),0.527157,0.7073,rs10998973,,,,,,chr10,71562437,71562437,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr86Thr/c.258G>A|717|COL13A1|protein_coding|CODING|NM_001130103.1|1|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr86Thr/c.258G>A|645|COL13A1|protein_coding|CODING|NM_080798.3|1|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr86Thr/c.258G>A|686|COL13A1|protein_coding|CODING|NM_080800.3|1|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr86Thr/c.258G>A|695|COL13A1|protein_coding|CODING|NM_080801.3|1|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr86Thr/c.258G>A|668|COL13A1|protein_coding|CODING|NM_080802.3|1|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr86Thr/c.258G>A|610|COL13A1|protein_coding|CODING|NM_080805.3|1|1)","NHEK:CTCF,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4949,0.6571,0.5686,0.46,0.30,0.54,,,,,,,,,,,,,,,,
synonymous_variant,COL13A1,SILENT,NM_001130103.1:p.Gln233Gln/c.699A>G,caA/caG,LOW,,0.995407,1,rs1227746,,,,,,chr10,71657272,71657272,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln233Gln/c.699A>G|717|COL13A1|protein_coding|CODING|NM_001130103.1|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln233Gln/c.699A>G|695|COL13A1|protein_coding|CODING|NM_080801.3|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln233Gln/c.699A>G|668|COL13A1|protein_coding|CODING|NM_080802.3|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln204Gln/c.612A>G|610|COL13A1|protein_coding|CODING|NM_080805.3|11|1),intron_variant(MODIFIER|||c.544-1181A>G|645|COL13A1|protein_coding|CODING|NM_080798.3|9|1),intron_variant(MODIFIER|||c.658-1181A>G|686|COL13A1|protein_coding|CODING|NM_080800.3|12|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.999,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL13A1,SILENT,NM_001130103.1:p.Thr258Thr/c.774G>A,acG/acA,LOW,,0.995407,1,rs1227747,,,,,,chr10,71658512,71658512,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr258Thr/c.774G>A|717|COL13A1|protein_coding|CODING|NM_001130103.1|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr201Thr/c.603G>A|645|COL13A1|protein_coding|CODING|NM_080798.3|10|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr239Thr/c.717G>A|686|COL13A1|protein_coding|CODING|NM_080800.3|13|1),intron_variant(MODIFIER|||c.714+1225G>A|695|COL13A1|protein_coding|CODING|NM_080801.3|13|1),intron_variant(MODIFIER|||c.714+1225G>A|668|COL13A1|protein_coding|CODING|NM_080802.3|13|1),intron_variant(MODIFIER|||c.627+1225G>A|610|COL13A1|protein_coding|CODING|NM_080805.3|11|1)","GM06990:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.999,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,AIFM2,SILENT,NM_001198696.1:p.Ala255Ala/c.765G>A,gcG/gcA,LOW,,0.600639,0.6409,rs2394656,,,,,,chr10,71876382,71876382,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala255Ala/c.765G>A|373|AIFM2|protein_coding|CODING|NM_001198696.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala255Ala/c.765G>A|373|AIFM2|protein_coding|CODING|NM_032797.5|7|1)","NHEK:CTCF,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:CTCF",,,,0.6534,0.6628,0.7744,0.68,0.45,0.79,,,,,,,,,,,,,,,,
synonymous_variant,TYSND1,SILENT,NM_173555.3:p.Leu258Leu/c.774G>T,ctG/ctT,LOW,COSM3749112(12),0.386581,0.5327,rs3750774,,,,,,chr10,71905569,71905569,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu258Leu/c.774G>T|398|TYSND1|protein_coding|CODING|NM_001040273.2|1|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu258Leu/c.774G>T|566|TYSND1|protein_coding|CODING|NM_173555.3|1|1),upstream_gene_variant(MODIFIER||1085|||TYSND1||CODING|NR_073595.1||1),intron_variant(MODIFIER|||n.208+720G>T||TYSND1||CODING|NR_073592.1|1|1),intron_variant(MODIFIER|||n.88+840G>T||TYSND1||CODING|NR_073580.1|1|1),intron_variant(MODIFIER|||n.208+720G>T||TYSND1||CODING|NR_073581.1|1|1),intron_variant(MODIFIER|||n.208+720G>T||TYSND1||CODING|NR_073594.1|1|1),intron_variant(MODIFIER|||n.88+840G>T||TYSND1||CODING|NR_073582.1|1|1),intron_variant(MODIFIER|||n.88+840G>T||TYSND1||CODING|NR_073591.1|1|1),intron_variant(MODIFIER|||n.88+840G>T||TYSND1||CODING|NR_073593.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HMEC:CTCF,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,H1ESC:CTCF,HeLa-S3:E2F6",,,,0.4162,0.513,0.4115,0.33,0.20,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TYSND1,SILENT,NM_173555.3:p.Gly216Gly/c.648T>C,ggT/ggC,LOW,COSM3751920(1),0.326278,0.0615,rs10999158,,,,,,chr10,71905695,71905695,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly216Gly/c.648T>C|398|TYSND1|protein_coding|CODING|NM_001040273.2|1|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly216Gly/c.648T>C|566|TYSND1|protein_coding|CODING|NM_173555.3|1|1),upstream_gene_variant(MODIFIER||1211|||TYSND1||CODING|NR_073595.1||1),intron_variant(MODIFIER|||n.208+594T>C||TYSND1||CODING|NR_073592.1|1|1),intron_variant(MODIFIER|||n.88+714T>C||TYSND1||CODING|NR_073580.1|1|1),intron_variant(MODIFIER|||n.208+594T>C||TYSND1||CODING|NR_073581.1|1|1),intron_variant(MODIFIER|||n.208+594T>C||TYSND1||CODING|NR_073594.1|1|1),intron_variant(MODIFIER|||n.88+714T>C||TYSND1||CODING|NR_073582.1|1|1),intron_variant(MODIFIER|||n.88+714T>C||TYSND1||CODING|NR_073591.1|1|1),intron_variant(MODIFIER|||n.88+714T>C||TYSND1||CODING|NR_073593.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:H2AZ,H1ESC:CTCF,HeLa-S3:E2F6",,,,0.3978,0.2911,0.4791,0.41,0.38,0.42,,,,,,,,,,,,,,,,
missense_variant,TYSND1,MISSENSE,NM_173555.3:p.Thr65Ala/c.193A>G,Acc/Gcc,MODERATE,COSM3749113(11),0.385383,0.5327,rs4746970,0.13(T),"0.003,0.001(B,B)",1.5(L),-0.9473(T),,chr10,71906150,71906150,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr65Ala/c.193A>G|398|TYSND1|protein_coding|CODING|NM_001040273.2|1|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr65Ala/c.193A>G|566|TYSND1|protein_coding|CODING|NM_173555.3|1|1),upstream_gene_variant(MODIFIER||1666|||TYSND1||CODING|NR_073595.1||1),intron_variant(MODIFIER|||n.208+139A>G||TYSND1||CODING|NR_073592.1|1|1),intron_variant(MODIFIER|||n.88+259A>G||TYSND1||CODING|NR_073580.1|1|1),intron_variant(MODIFIER|||n.208+139A>G||TYSND1||CODING|NR_073581.1|1|1),intron_variant(MODIFIER|||n.208+139A>G||TYSND1||CODING|NR_073594.1|1|1),intron_variant(MODIFIER|||n.88+259A>G||TYSND1||CODING|NR_073582.1|1|1),intron_variant(MODIFIER|||n.88+259A>G||TYSND1||CODING|NR_073591.1|1|1),intron_variant(MODIFIER|||n.88+259A>G||TYSND1||CODING|NR_073593.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.41,0.513,0.4115,0.32,0.19,0.39,,0.361502(N),1.000(P),"0.85,0.85(T,T)",0.0000(T),0.024,-0.179013,4.98,2.59,0.418000,0.905000,0.483000,0.297000,0.030000,0.001000,2.3036
synonymous_variant,PPA1,SILENT,NM_021129.3:p.Pro86Pro/c.258G>A,ccG/ccA,LOW,,0.000798722,0,rs150314887,,,,,,chr10,71977607,71977607,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro86Pro/c.258G>A|289|PPA1|protein_coding|CODING|NM_021129.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0.003,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,NPFFR1,SILENT,NM_022146.4:p.Pro199Pro/c.597G>T,ccG/ccT,LOW,COSM3751925(1),0.159345,0.004,rs10999212,,,,,,chr10,72015409,72015409,C,A,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro199Pro/c.597G>T|430|NPFFR1|protein_coding|CODING|NM_022146.4|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,CD4:H3K4me3,NH-A:H3K27me3,NH-A:DNase1,K562:H3K27me3,NHEK:H3K27me3,HMEC:H3K4me1,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2965,0.1671,0.2982,0.21,0.09,0.27,,,,,,,,,,,,,,,,
synonymous_variant,EIF4EBP2,SILENT,NM_004096.4:p.His74His/c.222C>T,caC/caT,LOW,COSM3751929(1),0.51278,0.7272,rs1043098,,,,,,chr10,72179746,72179746,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His74His/c.222C>T|120|EIF4EBP2|protein_coding|CODING|NM_004096.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4908,0.4712,0.4612,0.47,0.42,0.49,,,,,,,,,,,,,,,,
missense_variant,NODAL,MISSENSE,NM_018055.4:p.His165Arg/c.494A>G,cAc/cGc,MODERATE,COSM3751930(2),0.665735,0.9563,rs1904589,0.54(T),0.0(B),1.15(L),-1.0358(T),,chr10,72195439,72195439,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His165Arg/c.494A>G|347|NODAL|protein_coding|CODING|NM_018055.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,IMR90:H3K27me3",,RCV000081930.1,,0.7025,0.6816,0.5308,0.54,0.51,0.56,,0.728419(N),1.000(P),"-0.07,-0.07(T,T)",0.0000(T),0.017,-0.345616,5.99,-2.83,-2.060000,-0.447000,0.049000,0.006000,0.789000,0.000000,4.0111
synonymous_variant,PALD1,SILENT,NM_014431.2:p.Val115Val/c.345G>A,gtG/gtA,LOW,,0.218051,0.503,rs2275059,,,,,,chr10,72289701,72289701,G,A,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val115Val/c.345G>A|856|PALD1|protein_coding|CODING|NM_014431.2|4|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.2771,0.2046,0.1491,0.11,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,PALD1,MISSENSE,NM_014431.2:p.Val199Ile/c.595G>A,Gtc/Atc,MODERATE,,0.0133786,0,rs61737673,0.47(T),0.006(B),1.03(L),-0.9723(T),,chr10,72291172,72291172,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val199Ile/c.595G>A|856|PALD1|protein_coding|CODING|NM_014431.2|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0092,0.0216,0.0388,0.02,0.01,0.03,,0.758599(N),1.000(N),1.98(T),0.0125(T),0.016,-0.387703,5.08,1.08,0.655000,0.091000,0.778000,0.070000,0.003000,0.013000,6.6817
missense_variant,PALD1,MISSENSE,NM_014431.2:p.Arg721Cys/c.2161C>T,Cgt/Tgt,MODERATE,COSM3751931(3),0.204073,0.5079,rs3740447,,,2.215(M),-0.9189(T),,chr10,72307101,72307101,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg721Cys/c.2161C>T|856|PALD1|protein_coding|CODING|NM_014431.2|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.229,0.1686,0.1481,0.11,0.04,0.14,,,0.002(P),,0.0000(T),.,3.319934,4.03,3.12,0.551000,0.928000,-0.056000,0.962000,0.739000,0.001000,6.6199
synonymous_variant,PALD1,SILENT,NM_014431.2:p.Gln762Gln/c.2286A>G,caA/caG,LOW,COSM4144821(1),0.95607,1,rs7093516,,,,-1.0141(T),,chr10,72324143,72324143,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln762Gln/c.2286A>G|856|PALD1|protein_coding|CODING|NM_014431.2|19|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9885,0.998,0.96,0.88,1.00,,,0.000(P),,0.0000(T),.,0.483670,4.72,3.81,-0.227000,0.423000,2.674000,0.668000,0.428000,1.000000,10.8323
synonymous_variant,PRF1,SILENT,NM_001083116.1:p.His300His/c.900C>T,caC/caT,LOW,COSM3765513(1),0.695887,0.7341,rs885822,,,,,,chr10,72358577,72358577,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His300His/c.900C>T|555|PRF1|protein_coding|CODING|NM_001083116.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His300His/c.900C>T|555|PRF1|protein_coding|CODING|NM_005041.4|3|1)","CD4:H2BK5me1,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.6125,0.6427,0.5885,0.66,0.80,0.59,,,,,,,,,,,,,,,,
synonymous_variant,PRF1,SILENT,NM_001083116.1:p.Ala274Ala/c.822C>T,gcC/gcT,LOW,,0.11262,0.1101,rs885821,,,,,,chr10,72358655,72358655,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala274Ala/c.822C>T|555|PRF1|protein_coding|CODING|NM_001083116.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala274Ala/c.822C>T|555|PRF1|protein_coding|CODING|NM_005041.4|3|1)","CD4:H2BK5me1,CD4:H3K36me3,K562:E2F6,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.0787,0.1513,0.1988,0.15,0.08,0.18,,,,,,,,,,,,,,,,
missense_variant,ADAMTS14,MISSENSE,NM_139155.2:p.Leu593Pro/c.1778T>C,cTg/cCg,MODERATE,,0.79992,0.9097,rs10823607,0.1(T),"0.002,0.004,0.004(B,B,B)",-1.245(N),-1.0356(T),,chr10,72500763,72500763,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu590Pro/c.1769T>C|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|12|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu593Pro/c.1778T>C|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|12|1)","HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3",Sleep_duration,,,0.8507,0.7406,0.8579,0.81,0.71,0.86,,0.630401(N),1.000(P),"3.83,3.83(T,T)",0.0000(T),0.032,1.276303,5.27,-2.48,-0.119000,-0.501000,1.136000,0.896000,0.151000,0.045000,5.555
synonymous_variant,ADAMTS14,SILENT,NM_139155.2:p.Ser626Ser/c.1878C>G,tcC/tcG,LOW,,0.667133,0.8571,rs10999500,,,,,,chr10,72500863,72500863,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser623Ser/c.1869C>G|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|12|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser626Ser/c.1878C>G|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|12|1)","HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3",,,,0.6237,0.5663,0.6113,0.62,0.65,0.60,,,,,,,,,,,,,,,,
missense_variant,ADAMTS14,MISSENSE,NM_139155.2:p.Leu940Met/c.2818C>A,Ctg/Atg,MODERATE,COSM427846(3),0.160144,0.1637,rs12774070,0.01(D),"0.871,0.91(P,D)",1.485(L),-1.0972(T),,chr10,72513635,72513635,C,A,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu937Met/c.2809C>A|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|19|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu940Met/c.2818C>A|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|19|1)","HUVEC:H3K27me3,K562:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.2157,0.2046,0.2614,0.20,0.06,0.26,,0.000150(D),0.335(P),"0.11,0.11(T,T)",0.0001(T),0.095,3.939861,4.58,3.68,0.563000,1.159000,4.839000,0.994000,1.000000,1.000000,12.4295
synonymous_variant,ADAMTS14,SILENT,NM_139155.2:p.Cys955Cys/c.2865C>T,tgC/tgT,LOW,COSM3751932(2),0.52516,0.4395,rs2587475,,,,,,chr10,72513682,72513682,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys952Cys/c.2856C>T|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|19|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys955Cys/c.2865C>T|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|19|1)","HUVEC:H3K27me3,K562:H3K36me3,H1ESC:DNase1,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.5061,0.6614,0.5447,0.55,0.51,0.57,,,,,,,,,,,,,,,,
missense_variant,ADAMTS14,MISSENSE,NM_139155.2:p.Ser1020Asn/c.3059G>A,aGc/aAc,MODERATE,COSM3751933(3),0.213458,0.37,rs10999516,0.7(T),"0.044,0.288(B,B)",-0.785(N),-0.9775(T),,chr10,72517830,72517830,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1017Asn/c.3050G>A|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|20|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1020Asn/c.3059G>A|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|20|1)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1524,0.2262,0.1849,0.17,0.17,0.16,,0.056718(N),0.952(P),"0.65,0.65(T,T)",0.0000(T),0.014,1.702981,4.34,3.39,0.561000,2.250000,2.373000,0.945000,1.000000,0.998000,5.8642
synonymous_variant,ADAMTS14,SILENT,NM_139155.2:p.Pro1022Pro/c.3066C>T,ccC/ccT,LOW,COSM1348862(1),0.516973,0.4018,rs6480463,,,,,,chr10,72517837,72517837,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1019Pro/c.3057C>T|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|20|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1022Pro/c.3066C>T|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|20|1)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4836,0.611,0.5517,0.57,0.54,0.59,,,,,,,,,,,,,,,,
missense_variant,ADAMTS14,MISSENSE,NM_139155.2:p.Glu1052Gly/c.3155A>G,gAa/gGa,MODERATE,COSM3751934(1),0.218051,0.37,rs4747096,0.43(T),"0.0,0.0(B,B)",-0.95(N),-0.9487(T),,chr10,72518009,72518009,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu1049Gly/c.3146A>G|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|21|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu1052Gly/c.3155A>G|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|21|1)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1524,0.2305,0.1849,0.17,0.19,0.16,,0.349826(N),1.000(P),"0.08,0.11(T,T)",0.0000(T),0.027,-0.183744,3.88,2.98,-0.974000,0.334000,1.663000,0.084000,0.001000,0.609000,4.9891
synonymous_variant,ADAMTS14,SILENT,NM_139155.2:p.Ala1134Ala/c.3402A>G,gcA/gcG,LOW,COSM3765514(3),0.385982,0.3075,rs10823615,,,,,,chr10,72520330,72520330,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1131Ala/c.3393A>G|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|22|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1134Ala/c.3402A>G|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|22|1)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4744,0.3386,0.3091,0.36,0.40,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS14,SILENT,NM_139155.2:p.Arg1213Arg/c.3639A>G,agA/agG,LOW,COSM3998068(1),0.243011,0.1687,rs10823616,,,,,,chr10,72520567,72520567,A,G,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg1210Arg/c.3630A>G|1223|ADAMTS14|protein_coding|CODING|NM_080722.3|22|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg1213Arg/c.3639A>G|1226|ADAMTS14|protein_coding|CODING|NM_139155.2|22|1)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2393,0.2709,0.1899,0.25,0.30,0.23,,,,,,,,,,,,,,,,
missense_variant,TBATA,MISSENSE,NM_152710.2:p.Arg237Gln/c.710G>A,cGg/cAg,MODERATE,,0.771565,0.627,rs2254174,1(T),0.0(B),-2.42(N),-0.9867(T),,chr10,72535007,72535007,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg237Gln/c.710G>A|351|TBATA|protein_coding|CODING|NM_152710.2|8|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.8517,0.6888,0.8777,0.86,0.80,0.90,,0.000131(N),0.000(P),2.59(T),0.0000(T),0.279,-0.273611,5.33,5.33,-0.254000,0.977000,2.959000,0.351000,0.941000,1.000000,8.3549
synonymous_variant,TBATA,SILENT,NM_152710.2:p.Ala221Ala/c.663T>C,gcT/gcC,LOW,COSM3721003(2),0.236621,0.1091,rs2254433,,,,,,chr10,72536936,72536936,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala221Ala/c.663T>C|351|TBATA|protein_coding|CODING|NM_152710.2|7|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2515,0.1571,0.2863,0.31,0.35,0.30,,,,,,,,,,,,,,,,
missense_variant,SGPL1,MISSENSE,NM_003901.3:p.Val21Leu/c.61G>T,Gta/Tta,MODERATE,,0.0489217,0.001,rs12770335,0.48(T),0.0(B),0.49(N),-1.0543(T),,chr10,72604263,72604263,G,T,het,missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val21Leu/c.61G>T|568|SGPL1|protein_coding|CODING|NM_003901.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.072,0.1372,0.10,0.04,0.14,,0.277964(N),0.997(P),"1.0,1.07(T,T)",0.0006(T),0.115,1.840437,5.87,4.97,0.650000,1.460000,2.027000,0.997000,0.996000,0.961000,10.1108
synonymous_variant,SGPL1,SILENT,NM_003901.3:p.Ile188Ile/c.564C>T,atC/atT,LOW,,0.984824,1,rs827255,,,,-1.0243(T),,chr10,72619205,72619205,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile188Ile/c.564C>T|568|SGPL1|protein_coding|CODING|NM_003901.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.95,1.00,,,0.000(P),,0.0000(T),.,1.310640,5.58,1.78,-0.254000,0.088000,-0.057000,0.965000,0.998000,0.976000,0.4006
synonymous_variant,SGPL1,SILENT,NM_003901.3:p.Val314Val/c.942C>T,gtC/gtT,LOW,COSM3998069(1),0.160543,0.2163,rs865832,,,,,,chr10,72631626,72631626,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val314Val/c.942C>T|568|SGPL1|protein_coding|CODING|NM_003901.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1309,0.1758,0.2316,0.16,0.09,0.20,,,,,,,,,,,,,,,,
synonymous_variant,UNC5B,SILENT,NM_170744.4:p.Ala136Ala/c.408G>A,gcG/gcA,LOW,COSM3751937(2),0.498003,0.3879,rs12770025,,,,,,chr10,73044580,73044580,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala136Ala/c.408G>A|934|UNC5B|protein_coding|CODING|NM_001244889.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala136Ala/c.408G>A|945|UNC5B|protein_coding|CODING|NM_170744.4|3|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.5286,0.4611,0.6948,0.62,0.47,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SLC29A3,SILENT,NM_018344.5:p.Thr238Thr/c.714T>C,acT/acC,LOW,,0.780751,0.6657,rs2252997,,,,,,chr10,73115941,73115941,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr238Thr/c.714T>C|475|SLC29A3|protein_coding|CODING|NM_018344.5|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr238Thr/c.714T>C|258|SLC29A3|protein_coding|CODING|NM_001174098.1|5|1),non_coding_exon_variant(MODIFIER|||n.688T>C||SLC29A3||CODING|NR_033413.1|4|1),non_coding_exon_variant(MODIFIER|||n.461T>C||SLC29A3||CODING|NR_033414.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118381.2,,0.7219,0.6599,0.8847,0.89,0.89,0.89,,,,,,,,,,,,,,,,
missense_variant,SLC29A3,MISSENSE,NM_018344.5:p.Val239Ile/c.715G>A,Gtc/Atc,MODERATE,,0.760184,0.6657,rs2252996,0.5(T),0.02(B),0.93(L),-0.9798(T),,chr10,73115942,73115942,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val239Ile/c.715G>A|475|SLC29A3|protein_coding|CODING|NM_018344.5|5|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val239Ile/c.715G>A|258|SLC29A3|protein_coding|CODING|NM_001174098.1|5|1),non_coding_exon_variant(MODIFIER|||n.689G>A||SLC29A3||CODING|NR_033413.1|4|1),non_coding_exon_variant(MODIFIER|||n.462G>A||SLC29A3||CODING|NR_033414.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",Systemic_lupus_erythematosus,RCV000118382.2,,0.7219,0.647,0.8847,0.86,0.81,0.89,,0.645113(N),1.000(P),-0.28(T),0.0000(T),0.083,-0.469068,4.64,-2.2,-2.094000,-0.525000,0.139000,0.001000,0.008000,0.013000,11.6912
missense_variant,SLC29A3,MISSENSE,NM_018344.5:p.Ile326Val/c.976A>G,Atc/Gtc,MODERATE,,0.792732,0.6964,rs2487068,1(T),0.029(B),0.385(N),-0.9536(T),,chr10,73121913,73121913,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile326Val/c.976A>G|475|SLC29A3|protein_coding|CODING|NM_018344.5|6|1),3_prime_UTR_variant(MODIFIER||5909|c.*205A>G|258|SLC29A3|protein_coding|CODING|NM_001174098.1|6|1),non_coding_exon_variant(MODIFIER|||n.950A>G||SLC29A3||CODING|NR_033413.1|5|1),non_coding_exon_variant(MODIFIER|||n.723A>G||SLC29A3||CODING|NR_033414.1|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118385.2,,0.727,0.6412,0.8608,0.89,0.92,0.88,,0.354431(N),1.000(P),0.05(T),0.0000(T),0.034,-0.952775,5.8,-9.0,-1.082000,-1.717000,-0.591000,0.637000,0.001000,0.000000,5.7082
synonymous_variant,SLC29A3,SILENT,NM_018344.5:p.Gly336Gly/c.1008T>C,ggT/ggC,LOW,,0.753794,0.7153,rs1084004,,,,,,chr10,73121945,73121945,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly336Gly/c.1008T>C|475|SLC29A3|protein_coding|CODING|NM_018344.5|6|1),3_prime_UTR_variant(MODIFIER||5941|c.*237T>C|258|SLC29A3|protein_coding|CODING|NM_001174098.1|6|1),non_coding_exon_variant(MODIFIER|||n.982T>C||SLC29A3||CODING|NR_033413.1|5|1),non_coding_exon_variant(MODIFIER|||n.755T>C||SLC29A3||CODING|NR_033414.1|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3","Obesity_related_traits,Obesity_related_traits",RCV000118375.2,,0.7209,0.6614,0.8976,0.87,0.77,0.92,,,,,,,,,,,,,,,,
synonymous_variant,CDH23,SILENT,NM_022124.5:p.Val122Val/c.366T>C,gtT/gtC,LOW,COSM4144828(2),0.734625,0.7758,rs3802720,,,,,,chr10,73270906,73270906,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val122Val/c.366T>C|1381|CDH23|protein_coding|CODING|NM_001171930.1|6|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val122Val/c.366T>C|1061|CDH23|protein_coding|CODING|NM_001171931.1|6|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val122Val/c.366T>C|406|CDH23|protein_coding|CODING|NM_001171932.1|6|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val122Val/c.366T>C|3354|CDH23|protein_coding|CODING|NM_022124.5|6|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val122Val/c.366T>C|530|CDH23|protein_coding|CODING|NM_052836.3|6|1),intron_variant(MODIFIER|||n.143+629A>G||LOC102723377||NON_CODING|NR_120672.1|1|1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000039162.1,,0.5665,0.5,0.6889,0.75,0.93,0.66,,,,,,,,,,,,,,,,
synonymous_variant,CDH23,SILENT,NM_022124.5:p.Asn772Asn/c.2316T>C,aaT/aaC,LOW,,0.554513,0.4385,rs3752752,,,,,,chr10,73455201,73455201,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn772Asn/c.2316T>C|1381|CDH23|protein_coding|CODING|NM_001171930.1|21|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn772Asn/c.2316T>C|1061|CDH23|protein_coding|CODING|NM_001171931.1|21|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn772Asn/c.2316T>C|3354|CDH23|protein_coding|CODING|NM_022124.5|21|1)","NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K4me1",,RCV000039126.1,,0.6115,0.5187,0.7068,0.67,0.55,0.73,,,,,,,,,,,,,,,,
synonymous_variant,CDH23,SILENT,NM_022124.5:p.Asp796Asp/c.2388T>C,gaT/gaC,LOW,COSM4144837(1),0.553914,0.4345,rs3752751,,,,,,chr10,73455273,73455273,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp796Asp/c.2388T>C|1381|CDH23|protein_coding|CODING|NM_001171930.1|21|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp796Asp/c.2388T>C|1061|CDH23|protein_coding|CODING|NM_001171931.1|21|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp796Asp/c.2388T>C|3354|CDH23|protein_coding|CODING|NM_022124.5|21|1)","NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K4me1",,RCV000039129.1,,0.6125,0.5187,0.7068,0.67,0.55,0.73,,,,,,,,,,,,,,,,
missense_variant,CDH23,MISSENSE,NM_022124.5:p.Asn1351Asp/c.4051A>G,Aac/Gac,MODERATE,,0.782149,0.8194,rs1227065,0.65(T),0.0(B),,-1.0132(T),,chr10,73492079,73492079,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1351Asp/c.4051A>G|3354|CDH23|protein_coding|CODING|NM_022124.5|31|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1351Asp/c.4051A>G|1381|CDH23|protein_coding|CODING|NM_001171930.1|31|1),intron_variant(MODIFIER|||c.-6+5406T>C|133|C10orf105|protein_coding|CODING|NM_001168390.1|1|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K4ac,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000039171.2,,0.8364,0.7104,0.8151,0.81,0.79,0.82,,0.000000(N),0.000(P),,0.0000(T),0.095,-0.184974,4.99,4.99,-0.215000,1.485000,7.666000,0.049000,0.108000,1.000000,14.0499
missense_variant,CDH23,MISSENSE,NM_022124.5:p.Ala1575Thr/c.4723G>A,Gcc/Acc,MODERATE,,0.728834,0.8254,rs1227051,0.61(T),0.0(B),,-0.9989(T),,chr10,73501556,73501556,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1575Thr/c.4723G>A|3354|CDH23|protein_coding|CODING|NM_022124.5|36|1),"CD4:H3K18ac,HUVEC:H3K27me3,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,CD4:H3K4me1,CD4:H3K4ac,IMR90:H3K27me3,CD4:H2BK120ac,HepG2:H3K27me3",,RCV000039189.1,,0.8241,0.6902,0.7903,0.74,0.63,0.80,,0.000000(N),0.000(P),,0.0000(T),0.093,0.054691,5.09,5.09,-0.254000,0.798000,6.202000,0.077000,1.000000,1.000000,10.8831
missense_variant,C10orf54,MISSENSE,NM_022153.1:p.Asp187Glu/c.561T>G,gaT/gaG,MODERATE,COSM3751944(1),0.892772,0.7827,rs3747869,0.95(T),0.001(B),-0.37(N),-0.9721(T),,chr10,73520632,73520632,A,C,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp187Glu/c.561T>G|311|C10orf54|protein_coding|CODING|NM_022153.1|3|1),intron_variant(MODIFIER|||c.4846-16805A>C|3354|CDH23|protein_coding|CODING|NM_022124.5|36|1)","NHEK:H3K4me1,GM12878:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HMEC:H3K4me1,GM06990:H3K36me3,NHEK:DNase1",,,,0.9417,0.7954,0.9016,0.92,0.97,0.90,,0.155337(N),0.000(P),1.03(T),0.0000(T),0.029,0.444663,5.69,1.04,-0.121000,0.303000,-0.705000,0.963000,0.976000,0.495000,2.5761
missense_variant,C10orf54,MISSENSE,NM_022153.1:p.Leu7Pro/c.20T>C,cTg/cCg,MODERATE,COSM1745871(5),0.329872,0.1895,rs3747862,,0.0(B),0(N),-0.9007(T),,chr10,73533177,73533177,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu7Pro/c.20T>C|311|C10orf54|protein_coding|CODING|NM_022153.1|1|1),intron_variant(MODIFIER|||c.4846-4260A>G|3354|CDH23|protein_coding|CODING|NM_022124.5|36|1)","NHEK:CTCF,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,K562:Znf263,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,CD4:PolII,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.4969,0.2997,0.4264,0.37,0.27,0.43,,0.549678(N),1.000(P),0.87(T),0.0000(T),0.063,-0.780033,3.9,2.04,-0.432000,0.246000,1.497000,0.448000,0.006000,0.152000,6.3854
missense_variant,CDH23,MISSENSE,NM_022124.5:p.Thr1999Ser/c.5996C>G,aCc/aGc,MODERATE,COSM3751946(2),0.345248,0.1597,rs11592462,0.75(T),0.002(B),-0.03(N),-0.9669(T),,chr10,73550117,73550117,C,G,hom,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr1999Ser/c.5996C>G|3354|CDH23|protein_coding|CODING|NM_022124.5|44|1),upstream_gene_variant(MODIFIER||387|||MIR7152||NON_CODING|NR_106974.1||1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000039232.2,,0.5102,0.317,0.499,0.41,0.27,0.49,,0.001535(N),0.000(P),,0.0000(T),0.039,1.663782,5.06,4.14,0.556000,1.096000,1.661000,0.983000,1.000000,1.000000,15.6194
missense_variant,CHST3,MISSENSE,NM_004273.4:p.Arg357Gln/c.1070G>A,cGg/cAg,MODERATE,COSM3751947(1),0.273962,0.0893,rs3740129,0.5(T),0.008(B),0.175(N),-1.0063(T),,chr10,73767859,73767859,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg357Gln/c.1070G>A|479|CHST3|protein_coding|CODING|NM_004273.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2628,0.3804,0.4314,0.36,0.27,0.41,,0.007455(N),1.000(P),-1.6(D),0.0000(T),0.023,1.523657,5.55,1.52,-0.258000,0.021000,0.338000,0.988000,0.982000,0.005000,8.2168
missense_variant,DDIT4,MISSENSE,NM_019058.2:p.Leu208Pro/c.623T>C,cTg/cCg,MODERATE,,,,,0(D),0.997(D),2.045(M),-0.3615(T),,chr10,74034870,74034870,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu208Pro/c.623T>C|232|DDIT4|protein_coding|CODING|NM_019058.2|3|1),"NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:CTCF,HUVEC:H3K4me2,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H4K20me1,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,,,,,,,,0.000516(D),1.000(D),0.4(T),0.3254(T),0.982,4.328832,5.21,5.21,0.460000,1.960000,7.622000,0.983000,1.000000,1.000000,15.1019
synonymous_variant,ZSWIM8,SILENT,NM_001242488.1:p.Leu1423Leu/c.4269G>A,ctG/ctA,LOW,COSM146971(1),0.487819,0.2351,rs2271271,,,,-1.0113(T),,chr10,75558867,75558867,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1423Leu/c.4269G>A|1837|ZSWIM8|protein_coding|CODING|NM_001242487.1|21|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1423Leu/c.4269G>A|1892|ZSWIM8|protein_coding|CODING|NM_001242488.1|21|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1428Leu/c.4284G>A|1842|ZSWIM8|protein_coding|CODING|NM_015037.3|21|1),intron_variant(MODIFIER|||n.118-1021C>T||ZSWIM8-AS1||NON_CODING|NR_038357.1|2|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4785,0.4755,0.7575,0.69,0.56,0.75,,,0.000(P),,0.0000(T),.,0.510148,5.59,-7.37,-0.982000,-1.254000,-0.488000,0.981000,0.814000,0.217000,7.2207
synonymous_variant,CAMK2G,SILENT,NM_172171.2:p.Lys49Lys/c.147G>A,aaG/aaA,LOW,COSM1349091(3),0.284345,0.1121,rs2675671,,,,,,chr10,75632760,75632760,C,T,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys49Lys/c.147G>A|539|CAMK2G|protein_coding|CODING|NM_001204492.1|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys49Lys/c.147G>A|495|CAMK2G|protein_coding|CODING|NM_001222.3|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys49Lys/c.147G>A|527|CAMK2G|protein_coding|CODING|NM_172169.2|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys49Lys/c.147G>A|518|CAMK2G|protein_coding|CODING|NM_172170.4|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys49Lys/c.147G>A|556|CAMK2G|protein_coding|CODING|NM_172171.2|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys49Lys/c.147G>A|504|CAMK2G|protein_coding|CODING|NM_172173.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.3386,0.5785,0.46,0.27,0.57,,,,,,,,,,,,,,,,
missense_variant,PLAU,MISSENSE,NM_002658.3:p.Leu141Pro/c.422T>C,cTg/cCg,MODERATE,COSM4144861(1),0.775359,0.6349,rs2227564,0.2(T),"0.694,0.797(P,P)",,-1.0026(T),,chr10,75673101,75673101,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu124Pro/c.371T>C|414|PLAU|protein_coding|CODING|NM_001145031.1|5|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu141Pro/c.422T>C|431|PLAU|protein_coding|CODING|NM_002658.3|6|1),intron_variant(MODIFIER|||c.-73-268A>G|151|C10orf55|protein_coding|CODING|NM_001001791.2|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,HMEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,NHEK:H3K36me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K79me2",Inflammatory_bowel_disease,RCV000013052.1,,0.6278,0.7536,0.7922,0.84,0.96,0.78,,0.021549(N),0.630(P),"-0.07,-0.07,-0.07(T,T,T)",0.0000(T),0.224,0.737699,5.47,3.07,-1.058000,0.045000,0.567000,0.045000,0.005000,0.055000,6.4544
synonymous_variant,VCL,SILENT,NM_014000.2:p.Pro796Pro/c.2388G>A,ccG/ccA,LOW,COSM3751971(3),0.324681,0.254,rs767809,,,,,,chr10,75865065,75865065,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro796Pro/c.2388G>A|1066|VCL|protein_coding|CODING|NM_003373.3|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro796Pro/c.2388G>A|1134|VCL|protein_coding|CODING|NM_014000.2|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000038812.1|RCV000126279.1,,0.3875,0.4568,0.5915,0.44,0.14,0.59,,,,,,,,,,,,,,,,
synonymous_variant,VCL,SILENT,NM_014000.2:p.Gly938Gly/c.2814C>G,ggC/ggG,LOW,COSM1349106(2),0.623003,0.3819,rs2131956,,,,,,chr10,75871735,75871735,C,G,hom,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly938Gly/c.2814C>G|1134|VCL|protein_coding|CODING|NM_014000.2|19|1),intron_variant(MODIFIER|||c.2746-2207C>G|1066|VCL|protein_coding|CODING|NM_003373.3|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000038817.1|RCV000126283.1,,0.5,0.6744,0.7485,0.76,0.78,0.75,,,,,,,,,,,,,,,,
synonymous_variant,DLG5,SILENT,NM_004747.3:p.Asp1617Asp/c.4851C>T,gaC/gaT,LOW,COSM1745920(3),0.26258,0.1736,rs1058198,,,,,,chr10,79566632,79566632,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1617Asp/c.4851C>T|1919|DLG5|protein_coding|CODING|NM_004747.3|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3139,0.2392,0.339,0.32,0.27,0.35,,,,,,,,,,,,,,,,
synonymous_variant,DLG5,SILENT,NM_004747.3:p.Arg782Arg/c.2346C>G,cgC/cgG,LOW,,0.744209,0.7282,rs1248629,,,,,,chr10,79584178,79584178,G,C,het,synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg782Arg/c.2346C>G|1919|DLG5|protein_coding|CODING|NM_004747.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6585,0.7795,0.6491,0.72,0.84,0.65,,,,,,,,,,,,,,,,
missense_variant,DLG5,MISSENSE,NM_004747.3:p.Gln140Arg/c.419A>G,cAg/cGg,MODERATE,,0.965655,0.998,rs1248696,1(T),0.001(B),-0.51(N),-0.9471(T),,chr10,79616605,79616605,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln140Arg/c.419A>G|1919|DLG5|protein_coding|CODING|NM_004747.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9601,0.951,0.9115,0.93,0.98,0.90,,0.239730(N),1.000(P),"0.82,0.82(T,T)",0.0000(T),0.029,-1.478198,5.36,1.51,-1.163000,-0.211000,1.769000,0.013000,0.130000,1.000000,9.1088
missense_variant,SFTPA2,MISSENSE,NM_001098668.2:p.Ala91Pro/c.271G>C,Gct/Cct,MODERATE,COSM3751993(1),0.223243,0.2986,rs17886395,1(T),0.0(B),-1.325(N),-1.0092(T),,chr10,81318663,81318663,C,G,het,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala91Pro/c.271G>C|248|SFTPA2|protein_coding|CODING|NM_001098668.2|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.273,0.2277,0.1392,0.15,0.16,0.14,,0.015463(N),1.000(P),"-3.13,-3.13,-0.35(D,D,T)",0.0000(T),0.324,-2.629015,2.87,1.62,-0.488000,0.336000,0.883000,0.002000,0.050000,0.406000,4.2333
missense_variant,SFTPA2,MISSENSE,NM_001098668.2:p.Thr9Asn/c.26C>A,aCc/aAc,MODERATE,,0.448482,0.4821,rs1059046,0.39(T),0.278(B),,-0.9307(T),,chr10,81319214,81319214,G,T,het,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr9Asn/c.26C>A|248|SFTPA2|protein_coding|CODING|NM_001098668.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4264,0.5303,0.5855,,,,,0.535653(N),1.000(P),"2.28,2.28,2.28(T,T,T)",0.0000(T),0.036,0.812555,2.78,0.636,-0.310000,-0.143000,-0.866000,0.076000,0.008000,0.000000,3.9713
missense_variant,SFTPA1,MISSENSE,NM_001093770.2:p.Val34Ala/c.101T>C,gTg/gCg,MODERATE,,,,rs1059047,1(T),"0.0,0.0(B,B)",0.525(N),-0.9782(T),,chr10,81371637,81371637,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val34Ala/c.101T>C|214|SFTPA1|protein_coding|CODING|NM_001164645.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val19Ala/c.56T>C|199|SFTPA1|protein_coding|CODING|NM_001164646.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val34Ala/c.101T>C|263|SFTPA1|protein_coding|CODING|NM_001093770.2|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val19Ala/c.56T>C|248|SFTPA1|protein_coding|CODING|NM_001164644.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val19Ala/c.56T>C|248|SFTPA1|protein_coding|CODING|NM_001164647.1|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val19Ala/c.56T>C|248|SFTPA1|protein_coding|CODING|NM_005411.4|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.002890(N),1.000(P),"2.3,2.3,2.3,2.3,2.3,2.3(T,T,T,T,T,T)",0.0000(T),0.12,-1.753368,2.63,-5.26,-2.230000,-2.633000,-0.435000,0.005000,0.000000,0.000000,0.5482
missense_variant,SFTPA1,MISSENSE,NM_001093770.2:p.Leu65Val/c.193C>G,Ctc/Gtc,MODERATE,COSM4144904(1),,,rs1136450,1(T),"0.0,0.0(B,B)",0.345(N),-0.9330(T),,chr10,81371729,81371729,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu65Val/c.193C>G|263|SFTPA1|protein_coding|CODING|NM_001093770.2|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu50Val/c.148C>G|248|SFTPA1|protein_coding|CODING|NM_001164644.1|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu50Val/c.148C>G|248|SFTPA1|protein_coding|CODING|NM_001164647.1|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu50Val/c.148C>G|248|SFTPA1|protein_coding|CODING|NM_005411.4|3|1),intron_variant(MODIFIER|||c.130+63C>G|214|SFTPA1|protein_coding|CODING|NM_001164645.1|3|1),intron_variant(MODIFIER|||c.85+63C>G|199|SFTPA1|protein_coding|CODING|NM_001164646.1|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.402827(N),0.212(P),"2.53,2.53,2.53,2.53,2.53,2.53(T,T,T,T,T,T)",0.0000(T),0.092,-2.002151,2.73,-2.96,-0.418000,-0.788000,-0.414000,0.703000,0.536000,0.262000,4.469
synonymous_variant,SFTPA1,SILENT,NM_001093770.2:p.Pro77Pro/c.231A>G,ccA/ccG,LOW,COSM3751994(1),0.220847,0.2639,rs1136451,,,,,,chr10,81372081,81372081,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro77Pro/c.231A>G|263|SFTPA1|protein_coding|CODING|NM_001093770.2|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|248|SFTPA1|protein_coding|CODING|NM_001164644.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|248|SFTPA1|protein_coding|CODING|NM_001164647.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|248|SFTPA1|protein_coding|CODING|NM_005411.4|4|1),intron_variant(MODIFIER|||c.131-47A>G|214|SFTPA1|protein_coding|CODING|NM_001164645.1|3|1),intron_variant(MODIFIER|||c.86-47A>G|199|SFTPA1|protein_coding|CODING|NM_001164646.1|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.2751,0.2695,0.163,0.16,0.17,0.16,,,,,,,,,,,,,,,,
synonymous_variant,SFTPA1,SILENT,NM_001093770.2:p.Thr148Thr/c.444A>G,acA/acG,LOW,,0.0816693,0.0188,rs141764116,,,,,,chr10,81373521,81373521,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr148Thr/c.444A>G|263|SFTPA1|protein_coding|CODING|NM_001093770.2|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr133Thr/c.399A>G|248|SFTPA1|protein_coding|CODING|NM_001164644.1|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr99Thr/c.297A>G|214|SFTPA1|protein_coding|CODING|NM_001164645.1|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr84Thr/c.252A>G|199|SFTPA1|protein_coding|CODING|NM_001164646.1|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr133Thr/c.399A>G|248|SFTPA1|protein_coding|CODING|NM_001164647.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr133Thr/c.399A>G|248|SFTPA1|protein_coding|CODING|NM_005411.4|6|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.2127,0.1513,0.0696,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SFTPD,SILENT,NM_003019.4:p.Ala306Ala/c.918T>C,gcT/gcC,LOW,COSM3751995(1),0.174521,0.0188,rs1051246,,,,,,chr10,81697818,81697818,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala306Ala/c.918T>C|375|SFTPD|protein_coding|CODING|NM_003019.4|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2249,0.2406,0.1342,0.17,0.23,0.14,,,,,,,,,,,,,,,,
missense_variant,SFTPD,MISSENSE,NM_003019.4:p.Ser290Thr/c.868T>A,Tct/Act,MODERATE,COSM3751996(1),0.0824681,0.0188,rs3088308,0.64(T),0.009(B),1.775(L),-1.0147(T),,chr10,81697868,81697868,A,T,het,missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser290Thr/c.868T>A|375|SFTPD|protein_coding|CODING|NM_003019.4|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2127,0.1499,0.0706,0.06,0.02,0.07,,0.000876(N),0.981(P),1.77(T),0.0002(T),0.066,0.739586,5.63,3.16,0.482000,0.339000,0.575000,0.241000,0.858000,0.994000,8.6779
missense_variant,SFTPD,MISSENSE,NM_003019.4:p.Thr180Ala/c.538A>G,Aca/Gca,MODERATE,COSM4144912(1),0.770367,0.7917,rs2243639,0.85(T),0.001(B),0.145(N),-0.9409(T),,chr10,81701722,81701722,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr180Ala/c.538A>G|375|SFTPD|protein_coding|CODING|NM_003019.4|5|1),"HUVEC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7321,0.6196,0.6113,0.72,0.92,0.61,,0.879582(N),1.000(P),"-1.72,-3.21(D,D)",0.0000(T),0.267,-2.238659,5.0,-3.79,-0.994000,-0.386000,-1.321000,0.050000,0.002000,0.000000,1.6001
synonymous_variant,SFTPD,SILENT,NM_003019.4:p.Ser45Ser/c.135T>C,agT/agC,LOW,,0.024361,0.001,rs386602586,,,,,,chr10,81706281,81706281,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser45Ser/c.135T>C|375|SFTPD|protein_coding|CODING|NM_003019.4|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.0418,0.0795,0.05,0.02,0.07,,,,,,,,,,,,,,,,
missense_variant,SFTPD,MISSENSE,NM_003019.4:p.Met31Thr/c.92T>C,aTg/aCg,MODERATE,COSM4144913(1),0.504593,0.6151,rs721917,0.68(T),0.0(B),0(N),-1.0122(T),,chr10,81706324,81706324,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met31Thr/c.92T>C|375|SFTPD|protein_coding|CODING|NM_003019.4|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7065,0.379,0.4205,0.41,0.40,0.42,,0.224694(N),1.000(P),"-2.62,-2.78(D,D)",0.0000(T),0.428,0.689886,5.59,-1.35,-1.088000,-0.475000,-0.298000,0.000000,0.000000,0.000000,6.1062
missense_variant,TMEM254,MISSENSE,NM_001270371.1:p.Cys93Phe/c.278G>T,tGt/tTt,MODERATE,,0.421126,0.6865,rs1932574,,,,-0.9588(T),,chr10,81841692,81841692,G,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys93Phe/c.278G>T|101|TMEM254|protein_coding|CODING|NM_001270371.1|3|1),missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys68Phe/c.203G>T|76|TMEM254|protein_coding|CODING|NM_001270374.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu85Leu/c.255G>T|147|TMEM254|protein_coding|CODING|NM_001270367.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu85Leu/c.255G>T|108|TMEM254|protein_coding|CODING|NM_001270368.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu85Leu/c.255G>T|108|TMEM254|protein_coding|CODING|NM_001270369.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu61Leu/c.183G>T|103|TMEM254|protein_coding|CODING|NM_001270370.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu61Leu/c.183G>T|84|TMEM254|protein_coding|CODING|NM_001270372.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu61Leu/c.183G>T|84|TMEM254|protein_coding|CODING|NM_001270373.1|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu61Leu/c.183G>T|123|TMEM254|protein_coding|CODING|NM_025125.3|2|1),non_coding_exon_variant(MODIFIER|||n.254G>T||TMEM254||CODING|NR_072984.1|3|1),non_coding_exon_variant(MODIFIER|||n.261G>T||TMEM254||CODING|NR_072985.1|3|1),non_coding_exon_variant(MODIFIER|||n.159G>T||TMEM254||CODING|NR_072986.1|2|1),non_coding_exon_variant(MODIFIER|||n.159G>T||TMEM254||CODING|NR_072987.1|2|1)","NHEK:H3K27ac,GM12878:H3K36me3,HMEC:DNase1",,,,0.4683,0.3372,0.4125,0.37,0.27,0.43,,,1.000(P),,0.0000(T),.,-0.014996,5.34,1.28,0.655000,0.318000,-0.437000,0.682000,0.062000,0.000000,8.5308
missense_variant,ANXA11,MISSENSE,NM_001157.2:p.Arg230Cys/c.688C>T,Cgc/Tgc,MODERATE,COSM3751997(1),0.392173,0.6429,rs1049550,0.01(D),"0.998,0.996,0.996(D,D,D)",3.89(H),-0.9289(T),,chr10,81926702,81926702,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg230Cys/c.688C>T|505|ANXA11|protein_coding|CODING|NM_001157.2|6|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg230Cys/c.688C>T|505|ANXA11|protein_coding|CODING|NM_001278407.1|8|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg230Cys/c.688C>T|505|ANXA11|protein_coding|CODING|NM_001278408.1|8|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg197Cys/c.589C>T|472|ANXA11|protein_coding|CODING|NM_001278409.1|8|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg230Cys/c.688C>T|505|ANXA11|protein_coding|CODING|NM_145868.1|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg230Cys/c.688C>T|505|ANXA11|protein_coding|CODING|NM_145869.1|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.4654,0.4503,0.34,0.20,0.41,,0.000000(D),0.000(P),"2.64,2.64,2.64,2.64,2.64,2.64,2.64(T,T,T,T,T,T,T)",0.0000(T),0.588,4.488911,5.26,4.35,0.561000,1.360000,7.474000,0.984000,0.974000,1.000000,9.1797
synonymous_variant,ANXA11,SILENT,NM_001157.2:p.Ile224Ile/c.672T>C,atT/atC,LOW,COSM3720815(3),0.108427,0.0188,rs2228427,,,,,,chr10,81926718,81926718,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile224Ile/c.672T>C|505|ANXA11|protein_coding|CODING|NM_001157.2|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile224Ile/c.672T>C|505|ANXA11|protein_coding|CODING|NM_001278407.1|8|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile224Ile/c.672T>C|505|ANXA11|protein_coding|CODING|NM_001278408.1|8|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile191Ile/c.573T>C|472|ANXA11|protein_coding|CODING|NM_001278409.1|8|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile224Ile/c.672T>C|505|ANXA11|protein_coding|CODING|NM_145868.1|7|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile224Ile/c.672T>C|505|ANXA11|protein_coding|CODING|NM_145869.1|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2403,0.1787,0.1302,0.11,0.05,0.14,,,,,,,,,,,,,,,,
synonymous_variant,MAT1A,SILENT,NM_000429.2:p.Tyr377Tyr/c.1131C>T,taC/taT,LOW,COSM3751998(1),0.586861,0.4861,rs2993763,,,,,,chr10,82033594,82033594,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr377Tyr/c.1131C>T|395|MAT1A|protein_coding|CODING|NM_000429.2|9|1),"GM12878:H3K27me3,HepG2:H3K27ac,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.635,0.5187,0.4245,0.54,0.72,0.44,,,,,,,,,,,,,,,,
synonymous_variant,MAT1A,SILENT,NM_000429.2:p.Ala294Ala/c.882T>C,gcT/gcC,LOW,COSM428025(1),0.840455,0.9712,rs10887711,,,,,,chr10,82034842,82034842,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala294Ala/c.882T>C|395|MAT1A|protein_coding|CODING|NM_000429.2|7|1),"GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8384,0.7781,0.6412,0.71,0.87,0.62,,,,,,,,,,,,,,,,
synonymous_variant,MAT1A,SILENT,NM_000429.2:p.Val290Val/c.870A>G,gtA/gtG,LOW,,0.840855,0.9712,rs10788546,,,,,,chr10,82034854,82034854,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val290Val/c.870A>G|395|MAT1A|protein_coding|CODING|NM_000429.2|7|1),"GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8405,0.7781,0.6412,0.71,0.87,0.63,,,,,,,,,,,,,,,,
synonymous_variant,MAT1A,SILENT,NM_000429.2:p.Ala142Ala/c.426T>C,gcT/gcC,LOW,COSM4144914(1),0.863419,0.9722,rs1143694,,,,,,chr10,82040052,82040052,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala142Ala/c.426T>C|395|MAT1A|protein_coding|CODING|NM_000429.2|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8487,0.7968,0.669,0.75,0.92,0.66,,,,,,,,,,,,,,,,
synonymous_variant,DYDC2,SILENT,NM_001270042.1:p.Glu92Glu/c.276G>A,gaG/gaA,LOW,COSM3751999(1),0.114417,0.0288,rs1538818,,,,,,chr10,82122793,82122793,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu78Glu/c.234G>A|177|DYDC2|protein_coding|CODING|NM_001270041.1|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu92Glu/c.276G>A|191|DYDC2|protein_coding|CODING|NM_001270042.1|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu78Glu/c.234G>A|177|DYDC2|protein_coding|CODING|NM_032372.5|4|1),non_coding_exon_variant(MODIFIER|||n.832G>A||DYDC2||CODING|NR_070308.1|5|1),non_coding_exon_variant(MODIFIER|||n.614G>A||DYDC2||CODING|NR_070309.1|4|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.2965,0.1671,0.1103,0.09,0.05,0.12,,,,,,,,,,,,,,,,
synonymous_variant,SH2D4B,SILENT,NM_207372.2:p.Lys151Lys/c.453G>A,aaG/aaA,LOW,,0.0938498,0.004,rs72805712,,,,,,chr10,82331292,82331292,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys102Lys/c.306G>A|309|SH2D4B|protein_coding|CODING|NM_001145719.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys151Lys/c.453G>A|357|SH2D4B|protein_coding|CODING|NM_207372.2|3|1)",GM12878:H3K36me3,,,,0.0491,0.0879,0.1203,0.15,0.17,0.13,,,,,,,,,,,,,,,,
synonymous_variant,SH2D4B,SILENT,NM_207372.2:p.His238His/c.714C>T,caC/caT,LOW,COSM3765518(1),0.0660942,0.0645,rs1913762,,,,,,chr10,82363405,82363405,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His189His/c.567C>T|309|SH2D4B|protein_coding|CODING|NM_001145719.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His238His/c.714C>T|357|SH2D4B|protein_coding|CODING|NM_207372.2|5|1)",HepG2:H3K27me3,,,,0.0787,0.1614,0.0706,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,NRG3,MISSENSE,NM_001010848.3:p.Asn552Lys/c.1656C>A,aaC/aaA,MODERATE,,0.0952476,0.0109,rs17101193,0.17(T),"0.002,0.001,0.004,0.003(B,B,B,B)",0.345(N),-1.0841(T),,chr10,84744926,84744926,C,A,het,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn552Lys/c.1656C>A|696|NRG3|protein_coding|CODING|NM_001010848.3|9|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn551Lys/c.1653C>A|695|NRG3|protein_coding|CODING|NM_001165972.1|9|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn355Lys/c.1065C>A|499|NRG3|protein_coding|CODING|NM_001165973.1|11|1)",,,,,0.0726,0.1571,0.0567,0.09,0.15,0.06,,0.004474(N),0.896(P),"1.6,1.57,1.57,0.6,0.6,0.6,0.6(T,T,T,T,T,T,T)",0.0001(T),0.062,0.712044,5.95,2.74,0.650000,0.788000,-0.264000,0.983000,1.000000,0.867000,4.4692
synonymous_variant,NRG3,SILENT,NM_001010848.3:p.Pro590Pro/c.1770A>G,ccA/ccG,LOW,,0.0952476,0.0109,rs17101196,,,,,,chr10,84745040,84745040,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro590Pro/c.1770A>G|696|NRG3|protein_coding|CODING|NM_001010848.3|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro589Pro/c.1767A>G|695|NRG3|protein_coding|CODING|NM_001165972.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro393Pro/c.1179A>G|499|NRG3|protein_coding|CODING|NM_001165973.1|11|1)",,,,,0.0726,0.1571,0.0567,0.09,0.16,0.06,,,,,,,,,,,,,,,,
synonymous_variant,CDHR1,SILENT,NM_033100.3:p.Ala159Ala/c.477A>G,gcA/gcG,LOW,,0.515974,0.3948,rs4933975,,,,,,chr10,85960395,85960395,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala159Ala/c.477A>G|745|CDHR1|protein_coding|CODING|NM_001171971.2|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala159Ala/c.477A>G|859|CDHR1|protein_coding|CODING|NM_033100.3|6|1)","H1ESC:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4305,0.5202,0.4612,0.52,0.67,0.45,,,,,,,,,,,,,,,,
synonymous_variant,CDHR1,SILENT,NM_033100.3:p.Glu554Glu/c.1662A>G,gaA/gaG,LOW,COSM3752005(2),0.429113,0.2619,rs10749482,,,,,,chr10,85972043,85972043,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu554Glu/c.1662A>G|745|CDHR1|protein_coding|CODING|NM_001171971.2|15|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu554Glu/c.1662A>G|859|CDHR1|protein_coding|CODING|NM_033100.3|15|1)","GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3",,,,0.3395,0.3876,0.2853,0.42,0.67,0.29,,,,,,,,,,,,,,,,
synonymous_variant,CDHR1,SILENT,NM_033100.3:p.Thr813Thr/c.2439T>C,acT/acC,LOW,COSM3998106(1),0.573682,0.4107,rs3814213,,,,,,chr10,85974236,85974236,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr813Thr/c.2439T>C|859|CDHR1|protein_coding|CODING|NM_033100.3|17|1),intron_variant(MODIFIER|||c.2040+1132T>C|745|CDHR1|protein_coding|CODING|NM_001171971.2|16|1)","NHEK:CTCF,GM06990:H3K4me3",,,,0.456,0.5692,0.5189,0.60,0.77,0.52,,,,,,,,,,,,,,,,
synonymous_variant,CDHR1,SILENT,NM_001171971.2:p.Leu715Leu/c.2145G>A,ctG/ctA,LOW,COSM3998107(2),0.554113,0.4107,rs4244947,,,,,,chr10,85978939,85978939,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu715Leu/c.2145G>A|745|CDHR1|protein_coding|CODING|NM_001171971.2|17|1),downstream_gene_variant(MODIFIER||1310||550|LRIT2|protein_coding|CODING|NM_001017924.3||1),downstream_gene_variant(MODIFIER||1310||560|LRIT2|protein_coding|CODING|NM_001284223.1||1),downstream_gene_variant(MODIFIER||487||859|CDHR1|protein_coding|CODING|NM_033100.3||1)",HUVEC:H3K27me3,,,,0.453,0.5331,0.4632,,,,,,,,,,,,,,,,,,,
missense_variant,LRIT2,MISSENSE,NM_001284223.1:p.Thr520Pro/c.1558A>C,Acc/Ccc,MODERATE,COSM1349334(3),0.555112,0.4107,rs6585847,1(T),"0.0,0.0(B,B)",0(N),-1.0050(T),,chr10,85981801,85981801,T,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr510Pro/c.1528A>C|550|LRIT2|protein_coding|CODING|NM_001017924.3|3|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr520Pro/c.1558A>C|560|LRIT2|protein_coding|CODING|NM_001284223.1|4|1)",NHEK:H3K27me3,,,,0.453,0.5346,0.4662,0.55,0.75,0.45,,0.308798(N),1.000(P),"2.91,2.91(T,T)",0.0000(T),0.184,-0.295668,5.06,5.06,-0.121000,1.288000,1.715000,0.030000,0.109000,0.039000,11.3765
missense_variant,LRIT2,MISSENSE,NM_001284223.1:p.Val506Ala/c.1517T>C,gTc/gCc,MODERATE,COSM3752007(4),0.207867,0.3452,rs12217769,0.53(T),"0.006,0.004(B,B)",0(N),-0.9022(T),,chr10,85981842,85981842,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val496Ala/c.1487T>C|550|LRIT2|protein_coding|CODING|NM_001017924.3|3|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val506Ala/c.1517T>C|560|LRIT2|protein_coding|CODING|NM_001284223.1|4|1)",NHEK:H3K27me3,,,,0.1902,0.2911,0.2346,0.18,0.09,0.22,,0.666474(N),1.000(P),"2.32,2.32(T,T)",0.0000(T),0.133,-2.043231,4.8,2.88,-0.219000,0.535000,0.736000,0.140000,0.540000,0.000000,8.3195
synonymous_variant,LRIT2,SILENT,NM_001284223.1:p.Gly490Gly/c.1470C>T,ggC/ggT,LOW,COSM3752008(3),0.186102,0.2907,rs12218853,,,,,,chr10,85981889,85981889,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly480Gly/c.1440C>T|550|LRIT2|protein_coding|CODING|NM_001017924.3|3|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly490Gly/c.1470C>T|560|LRIT2|protein_coding|CODING|NM_001284223.1|4|1)",NHEK:H3K27me3,,,,0.181,0.232,0.2316,0.18,0.09,0.22,,,,,,,,,,,,,,,,
missense_variant,LRIT2,MISSENSE,NM_001284223.1:p.Leu220Phe/c.658C>T,Ctc/Ttc,MODERATE,COSM3752009(2),0.186901,0.2907,rs11200925,0.19(T),"0.002,0.001(B,B)",1.525(L),-1.0565(T),,chr10,85984323,85984323,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu220Phe/c.658C>T|550|LRIT2|protein_coding|CODING|NM_001017924.3|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu220Phe/c.658C>T|560|LRIT2|protein_coding|CODING|NM_001284223.1|2|1)",K562:Nrsf,,,,0.181,0.232,0.2346,0.18,0.09,0.22,,0.000636(N),1.000(P),"0.59,0.59(T,T)",0.0000(T),0.013,1.949383,6.17,-0.0674,0.655000,-0.264000,4.488000,0.991000,0.000000,1.000000,2.747
synonymous_variant,LRIT2,SILENT,NM_001284223.1:p.Gly186Gly/c.558G>A,ggG/ggA,LOW,COSM3998108(1),0.207867,0.3452,rs11200926,,,,,,chr10,85984423,85984423,C,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly186Gly/c.558G>A|550|LRIT2|protein_coding|CODING|NM_001017924.3|2|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly186Gly/c.558G>A|560|LRIT2|protein_coding|CODING|NM_001284223.1|2|1)","HepG2:Nrsf,HeLa-S3:Nrsf,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.1902,0.2911,0.2346,0.18,0.09,0.23,,,,,,,,,,,,,,,,
missense_variant,LRIT2,MISSENSE,NM_001284223.1:p.Lys179Asn/c.537A>C,aaA/aaC,MODERATE,COSM3998109(1),0.0603035,0.1409,rs11200927,0.14(T),"0.737,0.737(P,P)",0(N),-1.0890(T),,chr10,85984444,85984444,T,G,het,"missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys179Asn/c.537A>C|550|LRIT2|protein_coding|CODING|NM_001017924.3|2|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys179Asn/c.537A>C|560|LRIT2|protein_coding|CODING|NM_001284223.1|2|1)","HepG2:Nrsf,HeLa-S3:Nrsf,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.0573,0.0778,0.0308,0.02,0.02,0.02,,0.008307(N),0.997(P),"0.67,0.67(T,T)",0.0011(T),0.098,1.932087,6.06,2.42,0.533000,0.522000,0.975000,0.067000,0.450000,0.560000,5.9713
synonymous_variant,LRIT2,SILENT,NM_001284223.1:p.Leu86Leu/c.258C>T,ctC/ctT,LOW,COSM3752010(2),0.208067,0.3452,rs11200928,,,,,,chr10,85984723,85984723,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu86Leu/c.258C>T|550|LRIT2|protein_coding|CODING|NM_001017924.3|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu86Leu/c.258C>T|560|LRIT2|protein_coding|CODING|NM_001284223.1|2|1)","HepG2:Nrsf,H1ESC:DNase1,HeLa-S3:Nrsf,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.1902,0.2925,0.2346,0.18,0.09,0.23,,,,,,,,,,,,,,,,
synonymous_variant,LRIT1,SILENT,NM_015613.2:p.Gly359Gly/c.1077A>G,ggA/ggG,LOW,COSM3752011(2),0.493211,0.2589,rs3814210,,,,,,chr10,85992478,85992478,T,C,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly359Gly/c.1077A>G|623|LRIT1|protein_coding|CODING|NM_015613.2|4|1),"GM06990:H3K27me3,GM12878:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3374,0.4798,0.3976,0.52,0.78,0.39,,,,,,,,,,,,,,,,
synonymous_variant,LRIT1,SILENT,NM_015613.2:p.Pro348Pro/c.1044A>G,ccA/ccG,LOW,COSM3752012(1),0.492812,0.2579,rs3814209,,,,,,chr10,85992511,85992511,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro348Pro/c.1044A>G|623|LRIT1|protein_coding|CODING|NM_015613.2|4|1),"GM06990:H3K27me3,GM12878:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3374,0.4798,0.3976,0.52,0.78,0.39,,,,,,,,,,,,,,,,
synonymous_variant,LRIT1,SILENT,NM_015613.2:p.Asn296Asn/c.888T>C,aaT/aaC,LOW,,0.994609,1,rs4933986,,,,,,chr10,85993836,85993836,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn296Asn/c.888T>C|623|LRIT1|protein_coding|CODING|NM_015613.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9969,0.9986,0.9781,0.98,0.99,0.98,,,,,,,,,,,,,,,,
synonymous_variant,LRIT1,SILENT,NM_015613.2:p.Leu272Leu/c.814C>T,Ctg/Ttg,LOW,COSM3998110(1),0.572484,0.4058,rs3814206,,,,,,chr10,85993910,85993910,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu272Leu/c.814C>T|623|LRIT1|protein_coding|CODING|NM_015613.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4346,0.5418,0.4722,0.57,0.81,0.45,,,,,,,,,,,,,,,,
synonymous_variant,LRIT1,SILENT,NM_015613.2:p.Gly105Gly/c.315C>T,ggC/ggT,LOW,COSM3749120(12),0.460663,0.2073,rs10887259,,,,,,chr10,85997250,85997250,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly105Gly/c.315C>T|623|LRIT1|protein_coding|CODING|NM_015613.2|2|1),"K562:Max,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0.3436,0.3876,0.3539,0.47,0.74,0.34,,,,,,,,,,,,,,,,
synonymous_variant,RGR,SILENT,NM_002921.3:p.Thr9Thr/c.27T>C,acT/acC,LOW,,0.633586,0.495,rs2279227,,,,,,chr10,86004873,86004873,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr9Thr/c.27T>C|291|RGR|protein_coding|CODING|NM_001012720.1|1|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr9Thr/c.27T>C|253|RGR|protein_coding|CODING|NM_001012722.1|1|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr9Thr/c.27T>C|295|RGR|protein_coding|CODING|NM_002921.3|1|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.4908,0.5879,0.4911,0.62,0.90,0.48,,,,,,,,,,,,,,,,
synonymous_variant,RGR,SILENT,NM_002921.3:p.Tyr157Tyr/c.471C>T,taC/taT,LOW,COSM146980(4),0.503195,0.3313,rs1042454,,,,,,chr10,86012713,86012713,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr153Tyr/c.459C>T|291|RGR|protein_coding|CODING|NM_001012720.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr153Tyr/c.459C>T|253|RGR|protein_coding|CODING|NM_001012722.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr157Tyr/c.471C>T|295|RGR|protein_coding|CODING|NM_002921.3|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3671,0.4841,0.3588,0.51,0.78,0.36,,,,,,,,,,,,,,,,
missense_variant,RGR,MISSENSE,NM_002921.3:p.Ser245Phe/c.734C>T,tCc/tTc,MODERATE,,0.0636981,0.1359,rs61730895,0.33(T),"0.001,0.021(B,B)",0.17(N),-1.0428(T),,chr10,86017740,86017740,C,T,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser241Phe/c.722C>T|291|RGR|protein_coding|CODING|NM_001012720.1|6|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser245Phe/c.734C>T|295|RGR|protein_coding|CODING|NM_002921.3|6|1),intron_variant(MODIFIER|||c.631-524C>T|253|RGR|protein_coding|CODING|NM_001012722.1|5|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27me3",,RCV000086955.1,,0.0573,0.1023,0.0358,0.03,0.02,0.04,,0.127308(N),1.000(P),1.17(T),0.0006(T),0.047,1.304567,4.65,-0.631,0.655000,-0.017000,1.298000,0.992000,0.012000,0.002000,4.8306
synonymous_variant,CCSER2,SILENT,NM_001284240.1:p.Asn65Asn/c.195T>C,aaT/aaC,LOW,,0.034345,0.0724,rs17103381,,,,,,chr10,86131003,86131003,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn65Asn/c.195T>C|1047|CCSER2|protein_coding|CODING|NM_001284240.1|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn65Asn/c.195T>C|567|CCSER2|protein_coding|CODING|NM_001284241.1|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn65Asn/c.195T>C|834|CCSER2|protein_coding|CODING|NM_018999.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0778,0.0129,0.01,0.01,0.01,,,,,,,,,,,,,,,,
missense_variant,CCSER2,MISSENSE,NM_001284240.1:p.Asn84Ser/c.251A>G,aAt/aGt,MODERATE,,0.213259,0.2312,rs3814205,0.84(T),"0.004,0.002,0.002(B,B,B)",0(N),-1.0161(T),,chr10,86131059,86131059,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn84Ser/c.251A>G|1047|CCSER2|protein_coding|CODING|NM_001284240.1|2|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn84Ser/c.251A>G|567|CCSER2|protein_coding|CODING|NM_001284241.1|2|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn84Ser/c.251A>G|834|CCSER2|protein_coding|CODING|NM_018999.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.3617,0.1958,0.19,0.16,0.20,,0.234277(N),1.000(P),"0.92,2.26,2.27(T,T,T)",0.0000(T),0.003,-1.314141,5.82,-11.6,-0.290000,-2.350000,-0.193000,0.413000,0.000000,0.000000,14.4781
missense_variant,CCSER2,MISSENSE,NM_018999.3:p.Ser819Pro/c.2455T>C,Tca/Cca,MODERATE,,0.216454,0.2302,rs11557865,1(T),0.0(B),-1.5(N),-0.9640(T),,chr10,86273249,86273249,T,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser246Pro/c.736T>C|261|CCSER2|protein_coding|CODING|NM_001284243.1|8|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser819Pro/c.2455T>C|834|CCSER2|protein_coding|CODING|NM_018999.3|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp790Asp/c.2370T>C|1047|CCSER2|protein_coding|CODING|NM_001284240.1|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp217Asp/c.651T>C|474|CCSER2|protein_coding|CODING|NM_001284242.1|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.3631,0.1948,0.19,0.17,0.20,,0.000228(N),0.000(P),"2.74,2.39(T,T)",0.0000(T),0.118,-0.680603,6.03,6.03,-0.226000,1.579000,2.860000,0.728000,1.000000,1.000000,9.5382
synonymous_variant,GRID1,SILENT,NM_017551.2:p.Asp191Asp/c.573C>T,gaC/gaT,LOW,,0.180911,0.0893,rs17106320,,,,,,chr10,87898729,87898729,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp191Asp/c.573C>T|1009|GRID1|protein_coding|CODING|NM_017551.2|4|1),HepG2:H3K27me3,,,,0.2065,0.1715,0.1531,0.18,0.25,0.15,,,,,,,,,,,,,,,,
synonymous_variant,WAPAL,SILENT,NM_015045.2:p.Thr1125Thr/c.3375A>G,acA/acG,LOW,,0.813898,0.629,rs7094132,,,,,,chr10,88203068,88203068,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1125Thr/c.3375A>G|1190|WAPAL|protein_coding|CODING|NM_015045.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9121,0.7695,0.9334,0.89,0.83,0.92,,,,,,,,,,,,,,,,
missense_variant,WAPAL,MISSENSE,NM_015045.2:p.Val124Ile/c.370G>A,Gtt/Att,MODERATE,,0.192492,0.1776,rs10887621,0.08(T),"0.02,0.005,0.002,0.01(B,B,B,B)",0(N),-0.9508(T),,chr10,88277457,88277457,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val124Ile/c.370G>A|1190|WAPAL|protein_coding|CODING|NM_015045.2|2|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3395,0.1239,0.2803,0.22,0.10,0.28,,0.523732(N),0.056(P),1.96(T),0.0000(T),0.01,0.903750,5.57,1.12,0.655000,0.323000,1.529000,0.254000,0.383000,0.966000,10.0746
synonymous_variant,OPN4,SILENT,NM_001030015.2:p.Pro10Pro/c.30G>A,ccG/ccA,LOW,COSM3752016(1),0.236022,0.2778,rs11202106,,,,,,chr10,88414570,88414570,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro10Pro/c.30G>A|489|OPN4|protein_coding|CODING|NM_001030015.2|1|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro10Pro/c.30G>A|478|OPN4|protein_coding|CODING|NM_033282.3|1|1)","GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4029,0.1758,0.3022,0.25,0.10,0.33,,,,,,,,,,,,,,,,
missense_variant,OPN4,MISSENSE,NM_001030015.2:p.Thr405Ile/c.1214C>T,aCc/aTc,MODERATE,COSM3978859(2),0.753195,0.7927,rs1079610,0.52(T),"0.001,0.001,0.003(B,B,B)",1.2(L),-1.0175(T),,chr10,88422116,88422116,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr405Ile/c.1214C>T|489|OPN4|protein_coding|CODING|NM_001030015.2|9|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr394Ile/c.1181C>T|478|OPN4|protein_coding|CODING|NM_033282.3|8|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.774,0.7565,0.6342,0.69,0.77,0.65,,0.041277(N),0.999(P),"1.47,1.47,1.47(T,T,T)",0.0000(T),0.305,-0.310413,5.39,1.06,-0.960000,-0.014000,2.962000,0.200000,0.603000,1.000000,10.9936
synonymous_variant,OPN4,SILENT,NM_001030015.2:p.Arg417Arg/c.1249C>A,Cgg/Agg,LOW,COSM3752017(2),0.229832,0.2798,rs3740337,,,,,,chr10,88422151,88422151,C,A,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg417Arg/c.1249C>A|489|OPN4|protein_coding|CODING|NM_001030015.2|9|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg406Arg/c.1216C>A|478|OPN4|protein_coding|CODING|NM_033282.3|8|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4029,0.1744,0.3012,0.24,0.08,0.32,,,,,,,,,,,,,,,,
missense_variant,BMPR1A,MISSENSE,NM_004329.2:p.Pro2Thr/c.4C>A,Cct/Act,MODERATE,COSM3752019(1),0.4998,0.7093,rs11528010,1(T),0.0(B),-0.55(N),-0.9532(T),,chr10,88635779,88635779,C,A,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro2Thr/c.4C>A|532|BMPR1A|protein_coding|CODING|NM_004329.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000034703.1|RCV000120253.1|RCV000131909.1,,0.3098,0.3617,0.2753,0.39,0.65,0.26,,0.004161(N),1.000(P),-1.5(D),0.0000(T),0.058,-0.602108,5.3,5.3,-0.374000,0.956000,3.768000,0.577000,1.000000,1.000000,11.256
missense_variant,MMRN2,MISSENSE,NM_024756.2:p.His731Asp/c.2191C>G,Cac/Gac,MODERATE,COSM4144940(1),0.952077,0.999,rs4934281,0.75(T),"0.0,0.0(B,B)",-0.895(N),-0.9754(T),,chr10,88702350,88702350,G,C,hom,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His731Asp/c.2191C>G|949|MMRN2|protein_coding|CODING|NM_024756.2|6|1),"CD4:H4K91ac,HUVEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.9847,0.9683,0.9781,0.94,0.88,0.96,,0.068123(N),1.000(P),2.61(T),0.0000(T),0.027,0.437455,5.35,1.02,-0.676000,-0.017000,0.541000,0.034000,0.001000,0.001000,11.7235
synonymous_variant,MMRN2,SILENT,NM_024756.2:p.Val53Val/c.159A>T,gtA/gtT,LOW,,0.983227,0.999,rs4244973,,,,,,chr10,88717140,88717140,T,A,hom,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val53Val/c.159A>T|949|MMRN2|protein_coding|CODING|NM_024756.2|1|1),upstream_gene_variant(MODIFIER||1148||127|SNCG|protein_coding|CODING|NM_003087.2||1)","HUVEC:H3K4me3,HUVEC:H3K9ac,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.9836,0.9827,0.9791,0.97,0.98,0.97,,,,,,,,,,,,,,,,
missense_variant,MMRN2,MISSENSE,NM_024756.2:p.Gly49Ser/c.145G>A,Ggc/Agc,MODERATE,COSM146986(3),0.423522,0.7113,rs3750823,0.82(T),0.0(B),-0.46(N),-0.9785(T),,chr10,88717154,88717154,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly49Ser/c.145G>A|949|MMRN2|protein_coding|CODING|NM_024756.2|1|1),upstream_gene_variant(MODIFIER||1134||127|SNCG|protein_coding|CODING|NM_003087.2||1)","HUVEC:H3K4me3,HUVEC:H3K9ac,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.3947,0.4179,0.4742,0.39,0.23,0.47,,0.182630(N),1.000(P),2.61(T),0.0000(T),0.015,-0.017394,3.93,-5.26,-0.379000,-0.985000,-1.357000,0.064000,0.000000,0.000000,6.0887
synonymous_variant,ADIRF,SILENT,NM_006829.2:p.Ile68Ile/c.204T>C,atT/atC,LOW,COSM146987(2),0.527157,0.8095,rs4869,,,,,,chr10,88730312,88730312,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile68Ile/c.204T>C|76|ADIRF|protein_coding|CODING|NM_006829.2|3|1),upstream_gene_variant(MODIFIER||186||550|AGAP11|protein_coding|CODING|NM_133447.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,CD4:H3K18ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,NHEK:PolII,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,HUVEC:DNase1,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,CD4:H3K4ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,CD4:H2BK12ac",,,,0.456,0.4308,0.6014,0.48,0.38,0.54,,,,,,,,,,,,,,,,
missense_variant,AGAP11,MISSENSE,NM_133447.1:p.Ile82Val/c.244A>G,Att/Gtt,MODERATE,,0.791134,0.9325,rs2641563,,,,,,chr10,88768253,88768253,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile82Val/c.244A>G|550|AGAP11|protein_coding|CODING|NM_133447.1|12|1),"K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.6708,0.7522,0.7048,0.74,0.83,0.69,,,,,,,,,,,,,,,,
synonymous_variant,AGAP11,SILENT,NM_133447.1:p.Thr138Thr/c.414A>G,acA/acG,LOW,COSN163692,0.400759,0.6925,rs2641562,,,,,,chr10,88768423,88768423,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr138Thr/c.414A>G|550|AGAP11|protein_coding|CODING|NM_133447.1|12|1),"K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.4008,0.2723,0.4513,0.36,0.25,0.41,,,,,,,,,,,,,,,,
synonymous_variant,AGAP11,SILENT,NM_133447.1:p.Asp216Asp/c.648C>T,gaC/gaT,LOW,,0.777756,0.9286,rs1745901,,,,,,chr10,88768657,88768657,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp216Asp/c.648C>T|550|AGAP11|protein_coding|CODING|NM_133447.1|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6708,0.7522,0.7038,0.72,0.78,0.68,,,,,,,,,,,,,,,,
missense_variant,AGAP11,MISSENSE,NM_133447.1:p.Ser320Ala/c.958T>G,Tcc/Gcc,MODERATE,,0.00698882,0,rs149567083,,,,,,chr10,88768967,88768967,T,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser320Ala/c.958T>G|550|AGAP11|protein_coding|CODING|NM_133447.1|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0072,0.0268,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,FAM35A,SILENT,NM_019054.2:p.Gly698Gly/c.2094T>C,ggT/ggC,LOW,,0.793331,0.377,rs7081609,,,,,,chr10,88939962,88939962,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly698Gly/c.2094T>C|835|FAM35A|protein_coding|CODING|NM_019054.2|7|1),"HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.909,0.7968,0.84,0.88,0.95,0.85,,,,,,,,,,,,,,,,
missense_variant,LIPJ,MISSENSE,NM_001010939.2:p.Ile210Val/c.628A>G,Att/Gtt,MODERATE,,0.892572,0.994,rs111186212,0.27(T),0.008(B),-0.67(N),-0.9939(T),,chr10,90356598,90356598,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile210Val/c.628A>G|366|LIPJ|protein_coding|CODING|NM_001010939.2|8|1),,,,,0.8487,0.8487,0.7505,0.79,0.93,0.72,,0.161129(N),1.000(P),0.04(T),0.0000(T),0.005,-0.622008,4.12,-8.23,-1.990000,-2.506000,-6.308000,0.007000,0.000000,0.000000,4.417
missense_variant,LIPF,MISSENSE,NM_001198829.1:p.Thr171Ala/c.511A>G,Act/Gct,MODERATE,,0.167931,0.3056,rs814628,0(D),"0.896,0.881,0.954,0.927(P,P,D,D)",3.805(H),-1.1528(T),,chr10,90429652,90429652,A,G,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr128Ala/c.382A>G|365|LIPF|protein_coding|CODING|NM_001198828.1|5|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr171Ala/c.511A>G|408|LIPF|protein_coding|CODING|NM_001198829.1|6|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr138Ala/c.412A>G|375|LIPF|protein_coding|CODING|NM_001198830.1|6|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr161Ala/c.481A>G|398|LIPF|protein_coding|CODING|NM_004190.3|5|1)",,,,,0.2076,0.2046,0.174,0.13,0.05,0.18,,0.000024(D),0.000(P),"0.06,0.06,0.06(T,T,T)",0.0000(T),0.43,3.665012,5.24,5.24,0.528000,2.194000,8.620000,0.502000,1.000000,1.000000,14.2637
synonymous_variant,LIPF,SILENT,NM_001198829.1:p.Gln332Gln/c.996A>G,caA/caG,LOW,COSM3752026(3),0.228435,0.3274,rs1228187,,,,,,chr10,90438207,90438207,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln289Gln/c.867A>G|365|LIPF|protein_coding|CODING|NM_001198828.1|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln332Gln/c.996A>G|408|LIPF|protein_coding|CODING|NM_001198829.1|11|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln299Gln/c.897A>G|375|LIPF|protein_coding|CODING|NM_001198830.1|11|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln322Gln/c.966A>G|398|LIPF|protein_coding|CODING|NM_004190.3|10|1)",,,,,0.229,0.3069,0.2107,0.18,0.14,0.21,,,,,,,,,,,,,,,,
synonymous_variant,LIPK,SILENT,NM_001080518.1:p.Pro135Pro/c.405G>A,ccG/ccA,LOW,COSM4144957(1),0.257188,0.3462,rs412227,,,,,,chr10,90490921,90490921,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro135Pro/c.405G>A|399|LIPK|protein_coding|CODING|NM_001080518.1|3|1),,,,,0.2812,0.2853,0.2137,0.21,0.19,0.22,,,,,,,,,,,,,,,,
synonymous_variant,LIPK,SILENT,NM_001080518.1:p.His319His/c.957T>C,caT/caC,LOW,COSM1349667(1),0.257788,0.3502,rs390152,,,,,,chr10,90503075,90503075,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His319His/c.957T>C|399|LIPK|protein_coding|CODING|NM_001080518.1|8|1),IMR90:H3K27me3,,,,0.2607,0.2911,0.2207,0.22,0.21,0.22,,,,,,,,,,,,,,,,
missense_variant,LIPK,MISSENSE,NM_001080518.1:p.Met331Ile/c.993G>C,atG/atC,MODERATE,,0.185104,0.2877,rs1214464,0.72(T),0.213(B),0.275(N),-1.0578(T),,chr10,90512306,90512306,G,C,hom,missense_variant(MODERATE|MISSENSE|atG/atC|p.Met331Ile/c.993G>C|399|LIPK|protein_coding|CODING|NM_001080518.1|9|1),,,,,0.229,0.2781,0.2097,0.16,0.05,0.21,,0.021464(N),0.263(P),0.02(T),0.0000(T),0.09,2.655169,5.65,3.69,0.655000,1.583000,2.593000,0.991000,0.997000,0.997000,10.4283
synonymous_variant,LIPN,SILENT,NM_001102469.1:p.Ala99Ala/c.297T>C,gcT/gcC,LOW,COSM3998122(1),0.270767,0.3502,rs430517,,,,,,chr10,90524237,90524237,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala99Ala/c.297T>C|398|LIPN|protein_coding|CODING|NM_001102469.1|3|1),,,,,0.2607,0.2954,0.2207,0.24,0.27,0.22,,,,,,,,,,,,,,,,
synonymous_variant,LIPN,SILENT,NM_001102469.1:p.Leu380Leu/c.1140C>T,ctC/ctT,LOW,COSM3998123(2),0.125599,0.2679,rs11202851,,,,,,chr10,90537942,90537942,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu380Leu/c.1140C>T|398|LIPN|protein_coding|CODING|NM_001102469.1|9|1),NHEK:H3K27me3,,,,0.2025,0.1455,0.0547,0.05,0.02,0.06,,,,,,,,,,,,,,,,
synonymous_variant,FAS,SILENT,NM_000043.4:p.Thr214Thr/c.642T>C,acT/acC,LOW,,0.775359,0.9573,rs2234978,,,,,,chr10,90771829,90771829,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr214Thr/c.642T>C|335|FAS|protein_coding|CODING|NM_000043.4|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr193Thr/c.579T>C|314|FAS|protein_coding|CODING|NM_152871.2|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr214Thr/c.642T>C|220|FAS|protein_coding|CODING|NM_152872.2|7|1),non_coding_exon_variant(MODIFIER|||n.816T>C||FAS||CODING|NR_028033.2|5|1),non_coding_exon_variant(MODIFIER|||n.678T>C||FAS||CODING|NR_028034.2|4|1),non_coding_exon_variant(MODIFIER|||n.741T>C||FAS||CODING|NR_028035.2|5|1),non_coding_exon_variant(MODIFIER|||n.879T>C||FAS||CODING|NR_028036.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Immunoglobulin_A,,,0.8241,0.7911,0.7028,0.70,0.69,0.70,,,,,,,,,,,,,,,,
synonymous_variant,CH25H,SILENT,NM_003956.3:p.Ala168Ala/c.504G>A,gcG/gcA,LOW,,0.277157,0.7351,rs4078488,,,,,,chr10,90966546,90966546,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala168Ala/c.504G>A|272|CH25H|protein_coding|CODING|NM_003956.3|1|1),"CD4:H3K9me1,CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3303,0.2579,0.1332,0.08,0.03,0.11,,,,,,,,,,,,,,,,
synonymous_variant,CH25H,SILENT,NM_003956.3:p.Leu18Leu/c.54G>C,ctG/ctC,LOW,COSM3752028(1),0.280351,0.7371,rs10887932,,,,,,chr10,90966996,90966996,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu18Leu/c.54G>C|272|CH25H|protein_coding|CODING|NM_003956.3|1|1),"CD4:H3K9me1,CD4:H2AZ,CD4:H3K18ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K36ac,NHEK:H3K4me2,HSMM:H3K27me3,CD4:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1",,,,0.3344,0.2637,0.1392,0.09,0.03,0.12,,,,,,,,,,,,,,,,
missense_variant,LIPA,MISSENSE,NM_000235.3:p.Thr16Pro/c.46A>C,Acc/Ccc,MODERATE,COSM3998124(1),0.286142,0.3085,rs1051338,0.21(T),0.002(B),0(N),-1.0829(T),,chr10,91007360,91007360,T,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr16Pro/c.46A>C|399|LIPA|protein_coding|CODING|NM_000235.3|2|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr16Pro/c.46A>C|399|LIPA|protein_coding|CODING|NM_001127605.2|2|1),intron_variant(MODIFIER|||c.-120+4134A>C|283|LIPA|protein_coding|CODING|NM_001288979.1|1|1)",NHEK:H3K36me3,,,,0.4131,0.3545,0.327,0.24,0.13,0.30,,,0.000(P),"-0.51,-0.51,-0.39,-1.12(T,T,T,T)",0.0000(T),0.437,1.652821,4.93,3.72,0.454000,2.216000,-0.090000,0.146000,0.997000,0.000000,7.5127
synonymous_variant,IFIT2,SILENT,NM_001547.4:p.Val249Val/c.747T>A,gtT/gtA,LOW,,0.68131,0.8571,rs954439,,,,,,chr10,91066460,91066460,T,A,het,synonymous_variant(LOW|SILENT|gtT/gtA|p.Val249Val/c.747T>A|472|IFIT2|protein_coding|CODING|NM_001547.4|2|1),"HUVEC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5419,0.4957,0.5089,0.60,0.83,0.49,,,,,,,,,,,,,,,,
missense_variant,IFIT2,MISSENSE,NM_001547.4:p.Asp352Glu/c.1056C>A,gaC/gaA,MODERATE,,0.878794,0.9921,rs1727,1(T),0.0(B),-1.355(N),-0.9938(T),,chr10,91066769,91066769,C,A,het,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp352Glu/c.1056C>A|472|IFIT2|protein_coding|CODING|NM_001547.4|2|1),"HUVEC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8681,0.6916,0.7624,0.81,0.95,0.75,,0.691321(N),0.000(P),1.46(T),0.0000(T),0.048,-0.454146,4.58,2.19,-1.023000,0.138000,0.637000,0.796000,0.985000,0.994000,7.3744
synonymous_variant,IFIT1B,SILENT,NM_001010987.2:p.Gly153Gly/c.459T>A,ggT/ggA,LOW,,0.711661,0.873,rs304494,,,,,,chr10,91143529,91143529,T,A,het,synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly153Gly/c.459T>A|474|IFIT1B|protein_coding|CODING|NM_001010987.2|2|1),HUVEC:H3K27me3,,,,0.5552,0.5144,0.5258,0.62,0.87,0.49,,,,,,,,,,,,,,,,
synonymous_variant,IFIT1,SILENT,NM_001270927.1:p.Lys155Lys/c.465A>G,aaA/aaG,LOW,COSM1127983(1),0.976637,1,rs303211,,,,,,chr10,91162497,91162497,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys155Lys/c.465A>G|478|IFIT1|protein_coding|CODING|NM_001270927.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys124Lys/c.372A>G|447|IFIT1|protein_coding|CODING|NM_001270928.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys124Lys/c.372A>G|447|IFIT1|protein_coding|CODING|NM_001270929.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys124Lys/c.372A>G|447|IFIT1|protein_coding|CODING|NM_001270930.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys155Lys/c.465A>G|478|IFIT1|protein_coding|CODING|NM_001548.4|2|1)","HUVEC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9806,0.9481,0.9433,0.96,0.99,0.94,,,,,,,,,,,,,,,,
synonymous_variant,IFIT1,SILENT,NM_001270927.1:p.Asp215Asp/c.645C>T,gaC/gaT,LOW,COSM3998129(2),0.243011,0.4395,rs303210,,,,,,chr10,91162677,91162677,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp215Asp/c.645C>T|478|IFIT1|protein_coding|CODING|NM_001270927.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp184Asp/c.552C>T|447|IFIT1|protein_coding|CODING|NM_001270928.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp184Asp/c.552C>T|447|IFIT1|protein_coding|CODING|NM_001270929.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp184Asp/c.552C>T|447|IFIT1|protein_coding|CODING|NM_001270930.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp215Asp/c.645C>T|478|IFIT1|protein_coding|CODING|NM_001548.4|2|1)","HUVEC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3569,0.2522,0.2068,0.15,0.06,0.19,,,,,,,,,,,,,,,,
synonymous_variant,IFIT5,SILENT,NM_012420.2:p.Tyr348Tyr/c.1044C>T,taC/taT,LOW,,0.650759,0.8571,rs304448,,,,,,chr10,91178000,91178000,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr348Tyr/c.1044C>T|482|IFIT5|protein_coding|CODING|NM_012420.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.5675,0.5029,0.5358,0.57,0.69,0.51,,,,,,,,,,,,,,,,
synonymous_variant,PANK1,SILENT,NM_148977.2:p.Cys533Cys/c.1599C>T,tgC/tgT,LOW,,0.702476,0.9435,rs2296616,,,,,,chr10,91352966,91352966,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys249Cys/c.747C>T|314|PANK1|protein_coding|CODING|NM_138316.3|4|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys533Cys/c.1599C>T|598|PANK1|protein_coding|CODING|NM_148977.2|5|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys308Cys/c.924C>T|373|PANK1|protein_coding|CODING|NM_148978.2|5|1),upstream_gene_variant(MODIFIER||382|||MIR107||NON_CODING|NR_029524.1||1)","H1ESC:H3K36me3,GM12878:BCL3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6442,0.6326,0.5567,0.59,0.69,0.55,,,,,,,,,,,,,,,,
missense_variant,PANK1,MISSENSE,NM_148977.2:p.Gly6Ser/c.16G>A,Ggt/Agt,MODERATE,,0.0469249,0.0069,rs61853459,0.69(T),0.047(B),-0.345(N),0.2299(D),,chr10,91405044,91405044,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly6Ser/c.16G>A|598|PANK1|protein_coding|CODING|NM_148977.2|1|1),upstream_gene_variant(MODIFIER||1396||314|PANK1|protein_coding|CODING|NM_138316.3||1),upstream_gene_variant(MODIFIER||1396||373|PANK1|protein_coding|CODING|NM_148978.2||1)","H1ESC:PolII,CD4:H3K9me1,CD4:H2AZ,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ",,,,0.0624,0.0187,0.0258,0.04,0.06,0.03,,0.678916(N),1.000(D),-6.39(D),0.2318(T),0.124,3.613066,3.86,2.02,-0.137000,0.603000,-0.164000,0.971000,0.998000,0.394000,6.1261
missense_variant,KIF20B,MISSENSE,NM_001284259.1:p.Glu490Asp/c.1470G>T,gaG/gaT,MODERATE,COSM3752034(2),0.127196,0.001,rs17484219,0.46(T),"0.026,0.491(B,P)",2.33(M),-1.0332(T),,chr10,91479211,91479211,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu490Asp/c.1470G>T|1820|KIF20B|protein_coding|CODING|NM_001284259.1|13|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu490Asp/c.1470G>T|1780|KIF20B|protein_coding|CODING|NM_016195.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1687,0.1859,0.2276,0.19,0.10,0.23,,0.002315(N),0.987(P),"-0.24,-0.25,-0.33,-0.26(T,T,T,T)",0.0001(T),0.055,1.172910,5.63,3.72,0.460000,0.668000,1.059000,0.758000,0.997000,0.999000,3.8311
missense_variant,KIF20B,MISSENSE,NM_001284259.1:p.Cys1177Arg/c.3529T>C,Tgt/Cgt,MODERATE,,0.857428,0.9355,rs1886996,0.57(T),"0.0,0.001(B,B)",1.935(M),-0.9494(T),,chr10,91498127,91498127,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1177Arg/c.3529T>C|1820|KIF20B|protein_coding|CODING|NM_001284259.1|20|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1137Arg/c.3409T>C|1780|KIF20B|protein_coding|CODING|NM_016195.3|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.955,0.8026,0.7346,0.76,0.84,0.71,,0.861730(N),1.000(P),"-0.27,-0.28,-0.35,-0.28(T,T,T,T)",0.0000(T),0.013,-1.743058,5.82,0.459,-1.690000,-0.115000,0.563000,0.016000,0.000000,0.196000,3.8752
missense_variant,KIF20B,MISSENSE,NM_001284259.1:p.Lys1649Glu/c.4945A>G,Aag/Gag,MODERATE,,0.10643,0.001,rs34354493,0(D),"0.656,0.814(P,P)",2.095(M),-1.1717(T),,chr10,91522548,91522548,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1649Glu/c.4945A>G|1820|KIF20B|protein_coding|CODING|NM_001284259.1|29|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1609Glu/c.4825A>G|1780|KIF20B|protein_coding|CODING|NM_016195.3|29|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1687,0.1801,0.2276,0.17,0.05,0.23,,0.001382(N),0.000(P),"0.24,0.24,0.24,0.24(T,T,T,T)",0.0002(T),0.255,5.019322,6.06,6.06,0.533000,2.324000,8.147000,0.989000,1.000000,1.000000,15.5919
missense_variant,HECTD2,MISSENSE,NM_001284274.1:p.Pro19Ala/c.55C>G,Ccc/Gcc,MODERATE,COSM3752048(3),1,1,rs7081569,1(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-0.9903(T),,chr10,93170250,93170250,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro19Ala/c.55C>G|780|HECTD2|protein_coding|CODING|NM_001284274.1|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro19Ala/c.55C>G|207|HECTD2|protein_coding|CODING|NM_173497.3|1|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro19Ala/c.55C>G|776|HECTD2|protein_coding|CODING|NM_182765.4|1|1),intron_variant(MODIFIER|||n.427-59614G>C||HECTD2-AS1||NON_CODING|NR_024467.1|3|1),non_coding_exon_variant(MODIFIER|||n.209C>G||HECTD2||CODING|NR_104291.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF",,,,1,1,1,,,,,0.950145(N),0.999(P),"1.5,1.24,1.5(T,T,T)",0.0000(T),0.178,-0.486925,2.37,2.37,-0.370000,0.556000,-0.544000,0.735000,0.231000,0.858000,7.1033
synonymous_variant,CPEB3,SILENT,NM_014912.4:p.Tyr573Tyr/c.1719T>C,taT/taC,LOW,,1,1,rs2676811,,,,,,chr10,93841227,93841227,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr559Tyr/c.1677T>C|684|CPEB3|protein_coding|CODING|NM_001178137.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr573Tyr/c.1719T>C|698|CPEB3|protein_coding|CODING|NM_014912.4|9|1)","HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,EXOC6,MISSENSE,NM_001013848.2:p.Val24Ile/c.70G>A,Gtt/Att,MODERATE,COSM146994(1),0.571286,0.247,rs2490741,0.42(T),"0.0,0.001(B,B)",0.11(N),-1.0365(T),,chr10,94594565,94594565,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val24Ile/c.70G>A|799|EXOC6|protein_coding|CODING|NM_001013848.2|1|1),"IMR90:H2BK120ac,HUVEC:H3K4me3,HSMM:H3K27ac,HUVEC:H3K36me3,HSMM:H3K4me2,HUVEC:H3K9ac,HUVEC:DNase1,HUVEC:H3K4me2,HUVEC:H3K27ac",,,,0.4693,0.7233,0.6968,0.71,0.72,0.71,,,0.000(P),"2.01,2.05(T,T)",0.0000(T),0.031,-1.059133,5.39,1.83,-1.253000,-0.059000,0.317000,0.204000,0.990000,0.902000,5.4609
missense_variant,EXOC6,MISSENSE,NM_019053.4:p.Thr396Ile/c.1187C>T,aCt/aTt,MODERATE,COSM3752056(1),0.888578,0.996,rs1326331,1(T),"0.0,0.0,0.0(B,B,B)",-1.81(N),-0.9546(T),,chr10,94695617,94695617,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr391Ile/c.1172C>T|799|EXOC6|protein_coding|CODING|NM_001013848.2|12|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr396Ile/c.1187C>T|804|EXOC6|protein_coding|CODING|NM_019053.4|12|1)",HUVEC:H3K36me3,,,,0.8773,0.8473,0.6839,0.77,0.94,0.69,,0.000000(N),0.000(P),"2.44,2.44,2.44(T,T,T)",0.0000(T),0.233,0.598293,5.75,5.75,-0.332000,1.011000,6.285000,0.951000,1.000000,1.000000,11.8661
synonymous_variant,CYP26C1,SILENT,NM_183374.2:p.Thr213Thr/c.639C>T,acC/acT,LOW,COSM3752057(4),0.282348,0.0833,rs55843714,,,,,,chr10,94822686,94822686,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr213Thr/c.639C>T|522|CYP26C1|protein_coding|CODING|NM_183374.2|3|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,CD4:CTCF,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HSMM:H3K4me3,NHEK:DNase1,H1ESC:CTCF",,,,0.3599,0.3919,0.5577,0.44,0.18,0.57,,,,,,,,,,,,,,,,
synonymous_variant,MYOF,SILENT,NM_013451.3:p.Arg1920Arg/c.5760A>G,agA/agG,LOW,,0.84345,0.9107,rs787666,,,,,,chr10,95072906,95072906,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg1920Arg/c.5760A>G|2061|MYOF|protein_coding|CODING|NM_013451.3|51|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg1907Arg/c.5721A>G|2048|MYOF|protein_coding|CODING|NM_133337.2|50|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.8916,0.7795,0.8479,0.84,0.80,0.85,,,,,,,,,,,,,,,,
synonymous_variant,MYOF,SILENT,NM_013451.3:p.Asp1803Asp/c.5409C>T,gaC/gaT,LOW,,0.0279553,0,rs34048939,,,,,,chr10,95082882,95082882,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1803Asp/c.5409C>T|2061|MYOF|protein_coding|CODING|NM_013451.3|48|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1790Asp/c.5370C>T|2048|MYOF|protein_coding|CODING|NM_133337.2|47|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0164,0.049,0.0765,0.05,0.02,0.06,,,,,,,,,,,,,,,,
synonymous_variant,MYOF,SILENT,NM_013451.3:p.Asp1799Asp/c.5397C>T,gaC/gaT,LOW,,0.0259585,0,rs35527060,,,,,,chr10,95082894,95082894,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1799Asp/c.5397C>T|2061|MYOF|protein_coding|CODING|NM_013451.3|48|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1786Asp/c.5358C>T|2048|MYOF|protein_coding|CODING|NM_133337.2|47|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0164,0.0504,0.0765,0.05,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,CEP55,MISSENSE,NM_001127182.1:p.Thr99Ala/c.295A>G,Aca/Gca,MODERATE,,0.983027,1,rs7080916,0.58(T),0.0(B),-0.41(N),-1.0408(T),,chr10,95262981,95262981,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr99Ala/c.295A>G|464|CEP55|protein_coding|CODING|NM_001127182.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr99Ala/c.295A>G|464|CEP55|protein_coding|CODING|NM_018131.4|3|1)","CD4:H2AZ,H1ESC:H3K36me3,GM12878:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,HSMM:DNase1,CD4:H3K23ac,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,CD4:H3K4me2,HeLa-S3:H3K36me3,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,1,0.9914,0.999,0.98,0.95,1.00,,0.096641(N),1.000(P),2.49(T),0.0000(T),0.029,-1.200023,5.37,-3.01,-0.716000,-0.728000,-0.362000,0.000000,0.001000,0.000000,5.8473
missense_variant,CEP55,MISSENSE,NM_001127182.1:p.His378Leu/c.1133A>T,cAt/cTt,MODERATE,,0.559704,0.5437,rs2293277,0.13(T),0.084(B),1.59(L),-1.0975(T),,chr10,95279506,95279506,A,T,hom,"missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His378Leu/c.1133A>T|464|CEP55|protein_coding|CODING|NM_001127182.1|8|1),missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His378Leu/c.1133A>T|464|CEP55|protein_coding|CODING|NM_018131.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6769,0.7118,0.7525,0.61,0.33,0.76,,0.006065(N),0.035(P),2.21(T),0.0000(T),0.158,3.848845,5.79,5.79,0.459000,2.208000,6.083000,0.925000,0.992000,1.000000,14.6899
missense_variant,FRA10AC1,MISSENSE,NM_145246.4:p.Thr78Arg/c.233C>G,aCa/aGa,MODERATE,,0.360623,0.3978,rs2275438,0.2(T),"0.003,0.001,0.001(B,B,B)",-0.41(N),-0.9472(T),,chr10,95454681,95454681,G,C,het,missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr78Arg/c.233C>G|315|FRA10AC1|protein_coding|CODING|NM_145246.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.4539,0.5447,0.39,0.14,0.52,,0.001893(N),0.933(P),"2.07,2.02,2.0,2.01(T,T,T,T)",0.0000(T),0.128,1.498328,5.01,-0.297,0.655000,0.130000,2.067000,0.942000,0.986000,1.000000,8.5881
synonymous_variant,FRA10AC1,SILENT,NM_145246.4:p.Asp30Asp/c.90T>C,gaT/gaC,LOW,,0.360623,0.3978,rs11187597,,,,,,chr10,95458141,95458141,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp30Asp/c.90T>C|315|FRA10AC1|protein_coding|CODING|NM_145246.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4601,0.4539,0.5447,0.39,0.14,0.52,,,,,,,,,,,,,,,,
missense_variant,FRA10AC1,MISSENSE,NM_145246.4:p.Arg16His/c.47G>A,cGc/cAc,MODERATE,,0.622604,0.6885,rs726817,0.3(T),"0.001,0.001,0.0(B,B,B)",-0.345(N),-1.0266(T),,chr10,95459817,95459817,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg16His/c.47G>A|315|FRA10AC1|protein_coding|CODING|NM_145246.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5961,0.6729,0.7495,0.66,0.51,0.74,,0.048867(N),1.000(P),"1.96,1.96,1.93,1.94(T,T,T,T)",0.0000(T),0.047,0.784200,5.29,4.07,-0.254000,0.958000,0.538000,0.726000,0.794000,0.081000,5.5818
synonymous_variant,LGI1,SILENT,NM_005097.2:p.Phe219Phe/c.657T>C,ttT/ttC,LOW,,0.977436,1,rs1111820,,,,,,chr10,95552653,95552653,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe219Phe/c.657T>C|557|LGI1|protein_coding|CODING|NM_005097.2|6|1),HUVEC:H3K27me3,,,,1,0.9856,0.997,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PLCE1,SILENT,NM_016341.3:p.Cys270Cys/c.810T>C,tgT/tgC,LOW,COSM1349910(1),0.460463,0.4792,rs17109671,,,,,,chr10,95791613,95791613,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys270Cys/c.810T>C|2286|PLCE1|protein_coding|CODING|NM_001288989.1|2|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys270Cys/c.810T>C|2302|PLCE1|protein_coding|CODING|NM_016341.3|2|1)",,,,,0.3129,0.2608,0.3032,0.40,0.68,0.27,,,,,,,,,,,,,,,,
synonymous_variant,PLCE1,SILENT,NM_016341.3:p.Glu320Glu/c.960G>A,gaG/gaA,LOW,,0.378195,0.4415,rs17109674,,,,,,chr10,95791763,95791763,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu320Glu/c.960G>A|2286|PLCE1|protein_coding|CODING|NM_001288989.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu320Glu/c.960G>A|2302|PLCE1|protein_coding|CODING|NM_016341.3|2|1)",,,,,0.3016,0.2176,0.2883,0.32,0.46,0.25,,,,,,,,,,,,,,,,
missense_variant,PLCE1,MISSENSE,NM_016341.3:p.Arg1575Pro/c.4724G>C,cGa/cCa,MODERATE,,0.486222,0.5377,rs2274224,0.38(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-0.9502(T),,chr10,96039597,96039597,G,C,het,"missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg1267Pro/c.3800G>C|1994|PLCE1|protein_coding|CODING|NM_001165979.2|19|1),missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg1559Pro/c.4676G>C|2286|PLCE1|protein_coding|CODING|NM_001288989.1|20|1),missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg1575Pro/c.4724G>C|2302|PLCE1|protein_coding|CODING|NM_016341.3|20|1),non_coding_exon_variant(MODIFIER|||n.858C>G||PLCE1-AS1||NON_CODING|NR_033969.1|4|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.4223,0.3487,0.4563,0.48,0.55,0.44,,0.164757(N),1.000(P),"1.92,1.92,1.9,1.9(T,T,T,T)",0.0000(T),0.067,-0.224866,5.53,4.64,-0.738000,0.920000,0.795000,0.819000,0.998000,0.000000,6.471
missense_variant,PLCE1,MISSENSE,NM_016341.3:p.His1927Arg/c.5780A>G,cAc/cGc,MODERATE,,0.298522,0.2391,rs2274223,1(T),"0.0,0.0,0.0(B,B,B)",0.08(N),-1.0705(T),,chr10,96066341,96066341,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1619Arg/c.4856A>G|1994|PLCE1|protein_coding|CODING|NM_001165979.2|25|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1911Arg/c.5732A>G|2286|PLCE1|protein_coding|CODING|NM_001288989.1|26|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1927Arg/c.5780A>G|2302|PLCE1|protein_coding|CODING|NM_016341.3|26|1)","HUVEC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",Esophageal_cancer,,,0.2699,0.2133,0.338,0.32,0.33,0.31,,0.001593(N),1.000(P),"-0.31,-0.31,-0.31,-0.31(T,T,T,T)",0.0000(T),0.105,-0.140122,5.43,5.43,-0.119000,1.456000,3.020000,0.931000,1.000000,1.000000,14.4259
synonymous_variant,TBC1D12,SILENT,NM_015188.1:p.Pro223Pro/c.669C>G,ccC/ccG,LOW,COSM3749123(3),0.68111,0.8373,rs2477534,,,,,,chr10,96163039,96163039,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro223Pro/c.669C>G|775|TBC1D12|protein_coding|CODING|NM_015188.1|1|1),"K562:ZBTB7A,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7382,0.5648,0.6342,0.70,0.69,0.70,,,,,,,,,,,,,,,,
synonymous_variant,HELLS,SILENT,NM_001289067.1:p.Ile77Ile/c.231A>C,atA/atC,LOW,COSM3998140(1),0.530551,0.746,rs11188019,,,,,,chr10,96313960,96313960,A,C,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile77Ile/c.231A>C|884|HELLS|protein_coding|CODING|NM_001289067.1|3|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile61Ile/c.183A>C|822|HELLS|protein_coding|CODING|NM_001289068.1|3|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile77Ile/c.231A>C|806|HELLS|protein_coding|CODING|NM_001289069.1|3|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile77Ile/c.231A>C|740|HELLS|protein_coding|CODING|NM_001289070.1|3|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile77Ile/c.231A>C|708|HELLS|protein_coding|CODING|NM_001289072.1|3|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile77Ile/c.231A>C|838|HELLS|protein_coding|CODING|NM_018063.4|3|1),5_prime_UTR_variant(MODIFIER||8611|c.-186A>C|714|HELLS|protein_coding|CODING|NM_001289071.1|3|1),5_prime_UTR_variant(MODIFIER||8504|c.-119A>C|700|HELLS|protein_coding|CODING|NM_001289073.1|3|1),5_prime_UTR_variant(MODIFIER||27174|c.-772A>C|477|HELLS|protein_coding|CODING|NM_001289074.1|3|1),5_prime_UTR_variant(MODIFIER||22592|c.-791A>C|432|HELLS|protein_coding|CODING|NM_001289075.1|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6319,0.3228,0.4404,0.45,0.48,0.44,,,,,,,,,,,,,,,,
missense_variant,CYP2C18,MISSENSE,NM_000772.2:p.Thr385Met/c.1154C>T,aCg/aTg,MODERATE,COSM3998143(2),0.21885,0.3135,rs1126545,0.02(D),"0.218,0.975(B,D)",3.225(M),-1.0832(T),,chr10,96493058,96493058,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr385Met/c.1154C>T|490|CYP2C18|protein_coding|CODING|NM_000772.2|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr326Met/c.977C>T|431|CYP2C18|protein_coding|CODING|NM_001128925.1|7|1)",,,,,0.3579,0.1023,0.1451,0.15,0.16,0.15,,0.000009(N),0.000(P),"-0.8,-0.8(T,T)",0.0000(T),0.058,1.877472,4.05,0.102,-1.679000,-0.177000,3.922000,0.001000,0.027000,0.998000,7.9161
synonymous_variant,CYP2C19,SILENT,NM_000769.2:p.Pro227Pro/c.681G>A,ccG/ccA,LOW,COSM3998144(2),0.221446,0.3125,rs4244285,,,,,,chr10,96541616,96541616,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro227Pro/c.681G>A|490|CYP2C19|protein_coding|CODING|NM_000769.2|5|1),,,RCV000018393.23|RCV000018394.27|RCV000018395.24,,0.3579,0.1052,0.1451,0.15,0.17,0.15,,,,,,,,,,,,,,,,
synonymous_variant,CYP2C19,SILENT,NM_000769.2:p.Val330Val/c.990C>T,gtC/gtT,LOW,COSM3998145(2),0.221246,0.3125,rs3758580,,,,,,chr10,96602622,96602622,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val330Val/c.990C>T|490|CYP2C19|protein_coding|CODING|NM_000769.2|7|1),,,,,0.3579,0.1037,0.1451,0.15,0.17,0.15,,,,,,,,,,,,,,,,
splice_donor_variant,CYP2C8,protein_coding,NM_001198855.1:c.1A>G,,HIGH,,0.20008,0.0585,rs2071426,,,,,CYP2C8:0.25(4);,chr10,96828323,96828323,T,C,het,"splice_donor_variant(HIGH|||c.1A>G|420|CYP2C8|protein_coding|CODING|NM_001198855.1|2|1),intron_variant(MODIFIER|||c.25+631A>G|388|CYP2C8|protein_coding|CODING|NM_001198854.1|1|1),intron_variant(MODIFIER|||c.-43+1A>G|420|CYP2C8|protein_coding|CODING|NM_001198855.1|2|1),intron_variant(MODIFIER|||c.-43+631A>G|420|CYP2C8|protein_coding|CODING|NM_001198853.1|1|1),intron_variant(MODIFIER|||c.168+669A>G|490|CYP2C8|protein_coding|CODING|NM_000770.3|1|1)",,,,,0.2198,0.1513,0.2833,,,,,,,,,,,,,,,,,,,
missense_variant,ACSM6,MISSENSE,NM_207321.2:p.Glu19Gly/c.56A>G,gAa/gGa,MODERATE,,0.389976,0.0466,rs591157,0.47(T),0.0(B),-0.345(N),-0.9545(T),,chr10,96954298,96954298,A,G,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu19Gly/c.56A>G|480|ACSM6|protein_coding|CODING|NM_207321.2|2|1),HUVEC:H3K27me3,,,,0.4489,0.3818,0.5636,0.54,0.50,0.56,,,1.000(P),"2.06,2.06(T,T)",0.0000(T),0.048,0.001315,1.29,1.29,-0.741000,-0.131000,-0.045000,0.073000,0.002000,0.002000,4.5262
missense_variant,ACSM6,MISSENSE,NM_207321.2:p.Cys40Ser/c.118T>A,Tgc/Agc,MODERATE,COSM3752066(3),0.197284,0.0456,rs11188225,0.73(T),0.007(B),0.55(N),-0.9076(T),,chr10,96954360,96954360,T,A,hom,missense_variant(MODERATE|MISSENSE|Tgc/Agc|p.Cys40Ser/c.118T>A|480|ACSM6|protein_coding|CODING|NM_207321.2|2|1),HUVEC:H3K27me3,,,,0.3957,0.1916,0.3648,0.28,0.09,0.37,,,1.000(P),"2.25,2.25(T,T)",0.0000(T),0.072,0.311204,2.18,-4.37,0.391000,-1.234000,-0.509000,0.024000,0.000000,0.002000,1.1151
synonymous_variant,ACSM6,SILENT,NM_207321.2:p.Arg253Arg/c.759G>A,cgG/cgA,LOW,COSM328274(1),0.0357428,0,rs75252129,,,,,,chr10,96971638,96971638,G,A,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg253Arg/c.759G>A|480|ACSM6|protein_coding|CODING|NM_207321.2|6|1),"HSMM:DNase1,HMEC:DNase1,GM06990:H3K36me3",,,,0.0337,0.0576,0.1044,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,PDLIM1,MISSENSE,NM_020992.3:p.Asn175Ser/c.524A>G,aAc/aGc,MODERATE,,0.189497,0.0278,rs2296961,0.47(T),0.001(B),-0.115(N),-0.9073(T),,chr10,97023630,97023630,T,C,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn175Ser/c.524A>G|329|PDLIM1|protein_coding|CODING|NM_020992.3|4|1),"NHEK:H3K27ac,H1ESC:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2168,0.2666,0.3072,0.26,0.20,0.29,,0.001487(N),1.000(P),2.02(T),0.0000(T),0.034,-0.440236,5.65,3.31,0.533000,0.553000,0.818000,0.150000,0.006000,0.019000,7.4555
missense_variant,SORBS1,MISSENSE,NM_001034954.1:p.Gly1187Glu/c.3560G>A,gGa/gAa,MODERATE,,0.00838658,0,rs114494406,0.55(T),"0.369,0.134,0.17(B,B,B)",0.345(N),-0.8365(T),,chr10,97096357,97096357,C,T,het,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly1046Glu/c.3137G>A|1151|SORBS1|protein_coding|CODING|NM_001034955.1|28|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly1187Glu/c.3560G>A|1292|SORBS1|protein_coding|CODING|NM_001034954.1|28|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly1141Glu/c.3422G>A|1266|SORBS1|protein_coding|CODING|NM_001290294.1|28|1),intron_variant(MODIFIER|||c.1983+2533G>A|740|SORBS1|protein_coding|CODING|NM_001034957.1|19|1),intron_variant(MODIFIER|||c.2010+2533G>A|749|SORBS1|protein_coding|CODING|NM_001290295.1|22|1),intron_variant(MODIFIER|||c.2775+2533G>A|1004|SORBS1|protein_coding|CODING|NM_001290296.1|25|1),intron_variant(MODIFIER|||c.2196+2533G>A|811|SORBS1|protein_coding|CODING|NM_001290297.1|22|1),intron_variant(MODIFIER|||c.2301+2533G>A|846|SORBS1|protein_coding|CODING|NM_001290298.1|23|1),intron_variant(MODIFIER|||c.1815+2533G>A|684|SORBS1|protein_coding|CODING|NM_006434.2|18|1),intron_variant(MODIFIER|||c.2211+2533G>A|816|SORBS1|protein_coding|CODING|NM_015385.3|22|1),intron_variant(MODIFIER|||c.2106+2533G>A|781|SORBS1|protein_coding|CODING|NM_024991.2|23|1),intron_variant(MODIFIER|||c.2418+2533G>A|905|SORBS1|protein_coding|CODING|NM_001034956.1|24|1)","H1ESC:H3K36me3,HepG2:H3K27ac,HepG2:H3K36me3",,,,0.0031,0.0187,0.0219,0.02,0.00,0.03,,0.023092(N),1.000(D),"3.22,3.09,3.51,3.22,3.51(T,T,T,T,T)",0.0049(T),0.201,2.166535,5.58,2.62,0.561000,0.276000,1.388000,0.987000,0.995000,0.992000,5.766
synonymous_variant,SORBS1,SILENT,NM_001034954.1:p.Asp524Asp/c.1572C>T,gaC/gaT,LOW,,0.597444,0.6498,rs2274490,,,,,,chr10,97141523,97141523,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp524Asp/c.1572C>T|1292|SORBS1|protein_coding|CODING|NM_001034954.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp546Asp/c.1638C>T|1151|SORBS1|protein_coding|CODING|NM_001034955.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp409Asp/c.1227C>T|905|SORBS1|protein_coding|CODING|NM_001034956.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp314Asp/c.942C>T|740|SORBS1|protein_coding|CODING|NM_001034957.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp478Asp/c.1434C>T|1266|SORBS1|protein_coding|CODING|NM_001290294.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp323Asp/c.969C>T|749|SORBS1|protein_coding|CODING|NM_001290295.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp494Asp/c.1482C>T|1004|SORBS1|protein_coding|CODING|NM_001290296.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp323Asp/c.969C>T|811|SORBS1|protein_coding|CODING|NM_001290297.1|12|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp392Asp/c.1176C>T|846|SORBS1|protein_coding|CODING|NM_001290298.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp314Asp/c.942C>T|684|SORBS1|protein_coding|CODING|NM_006434.2|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp446Asp/c.1338C>T|816|SORBS1|protein_coding|CODING|NM_015385.3|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp355Asp/c.1065C>T|781|SORBS1|protein_coding|CODING|NM_024991.2|15|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6769,0.7233,0.6024,0.55,0.46,0.59,,,,,,,,,,,,,,,,
synonymous_variant,SORBS1,SILENT,NM_001034954.1:p.Thr264Thr/c.792G>A,acG/acA,LOW,,0.0273562,0,rs11188316,,,,,,chr10,97174269,97174269,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr195Thr/c.585G>A|905|SORBS1|protein_coding|CODING|NM_001034956.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr264Thr/c.792G>A|1292|SORBS1|protein_coding|CODING|NM_001034954.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr264Thr/c.792G>A|1151|SORBS1|protein_coding|CODING|NM_001034955.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr264Thr/c.792G>A|1266|SORBS1|protein_coding|CODING|NM_001290294.1|9|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr255Thr/c.765G>A|1004|SORBS1|protein_coding|CODING|NM_001290296.1|6|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr232Thr/c.696G>A|816|SORBS1|protein_coding|CODING|NM_015385.3|8|1),intron_variant(MODIFIER|||c.319-3735G>A|740|SORBS1|protein_coding|CODING|NM_001034957.1|4|1),intron_variant(MODIFIER|||c.346-3735G>A|749|SORBS1|protein_coding|CODING|NM_001290295.1|7|1),intron_variant(MODIFIER|||c.346-3735G>A|811|SORBS1|protein_coding|CODING|NM_001290297.1|5|1),intron_variant(MODIFIER|||c.415-3735G>A|846|SORBS1|protein_coding|CODING|NM_001290298.1|5|1),intron_variant(MODIFIER|||c.319-3735G>A|684|SORBS1|protein_coding|CODING|NM_006434.2|4|1),intron_variant(MODIFIER|||c.442-3735G>A|781|SORBS1|protein_coding|CODING|NM_024991.2|8|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0327,0.036,0.0696,0.06,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,SORBS1,MISSENSE,NM_001034954.1:p.Leu61Pro/c.182T>C,cTt/cCt,MODERATE,,0.980831,1,rs943542,1(T),"0.001,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.002,0.0(B,B,B,B,B,B,B,B,B,B)",-0.975(N),-0.9458(T),,chr10,97192324,97192324,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu61Pro/c.182T>C|1292|SORBS1|protein_coding|CODING|NM_001034954.1|4|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu61Pro/c.182T>C|1151|SORBS1|protein_coding|CODING|NM_001034955.1|4|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu61Pro/c.182T>C|905|SORBS1|protein_coding|CODING|NM_001034956.1|4|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu29Pro/c.86T>C|740|SORBS1|protein_coding|CODING|NM_001034957.1|3|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu61Pro/c.182T>C|1266|SORBS1|protein_coding|CODING|NM_001290294.1|6|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu29Pro/c.86T>C|749|SORBS1|protein_coding|CODING|NM_001290295.1|5|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu61Pro/c.182T>C|1004|SORBS1|protein_coding|CODING|NM_001290296.1|4|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu29Pro/c.86T>C|811|SORBS1|protein_coding|CODING|NM_001290297.1|3|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu61Pro/c.182T>C|846|SORBS1|protein_coding|CODING|NM_001290298.1|4|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu29Pro/c.86T>C|684|SORBS1|protein_coding|CODING|NM_006434.2|3|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu29Pro/c.86T>C|816|SORBS1|protein_coding|CODING|NM_015385.3|5|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu61Pro/c.182T>C|781|SORBS1|protein_coding|CODING|NM_024991.2|6|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9971,1,0.98,0.94,1.00,,0.002298(N),0.002(P),"4.28,3.57,3.53,4.05,3.98,4.28,3.86,4.28,3.73,4.05,4.28,3.76,3.86,3.57(T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.323,0.303821,5.75,5.75,-0.119000,1.443000,4.568000,0.973000,1.000000,1.000000,12.4449
synonymous_variant,TCTN3,SILENT,NM_015631.5:p.Thr201Thr/c.603T>A,acT/acA,LOW,,0.42472,0.7133,rs10786229,,,,,,chr10,97447373,97447373,A,T,het,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr201Thr/c.603T>A|607|TCTN3|protein_coding|CODING|NM_015631.5|4|1),intron_variant(MODIFIER|||c.500-457T>A|459|TCTN3|protein_coding|CODING|NM_001143973.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118618.2,,0.3292,0.255,0.3469,0.35,0.42,0.32,,,,,,,,,,,,,,,,
synonymous_variant,DNTT,SILENT,NM_004088.3:p.Ile74Ile/c.222C>T,atC/atT,LOW,,0.992812,1,rs7081385,,,,,,chr10,98078127,98078127,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile74Ile/c.222C>T|508|DNTT|protein_coding|CODING|NM_001017520.1|2|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile74Ile/c.222C>T|509|DNTT|protein_coding|CODING|NM_004088.3|2|1)",,,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,DNTT,MISSENSE,NM_004088.3:p.Arg112Gly/c.334A>G,Aga/Gga,MODERATE,,0.992812,1,rs6584066,0.74(T),"0.001,0.0(B,B)",-0.075(N),-0.9657(T),,chr10,98078239,98078239,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg112Gly/c.334A>G|508|DNTT|protein_coding|CODING|NM_001017520.1|2|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg112Gly/c.334A>G|509|DNTT|protein_coding|CODING|NM_004088.3|2|1)",,,,,1,0.9986,1,0.99,0.97,1.00,,0.416498(N),1.000(P),"0.88,0.88(T,T)",0.0000(T),0.052,-1.325284,5.62,-3.49,-1.309000,-0.849000,-0.023000,0.211000,0.362000,0.959000,13.8624
synonymous_variant,PIK3AP1,SILENT,NM_152309.2:p.Ser591Ser/c.1773G>A,tcG/tcA,LOW,,0.573283,0.8234,rs3748234,,,,,,chr10,98380277,98380277,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser591Ser/c.1773G>A|805|PIK3AP1|protein_coding|CODING|NM_152309.2|12|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,0.682,0.5058,0.5994,0.53,0.35,0.62,,,,,,,,,,,,,,,,
synonymous_variant,PIK3AP1,SILENT,NM_152309.2:p.Leu526Leu/c.1576C>T,Ctg/Ttg,LOW,,0.891773,0.999,rs4344416,,,,,,chr10,98386558,98386558,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu526Leu/c.1576C>T|805|PIK3AP1|protein_coding|CODING|NM_152309.2|10|1),"GM12878:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9366,0.951,0.9344,0.88,0.75,0.95,,,,,,,,,,,,,,,,
synonymous_variant,SLIT1,SILENT,NM_003061.2:p.Arg624Arg/c.1872C>T,cgC/cgT,LOW,COSM3752068(2),0.0467252,0,rs35388136,,,,,,chr10,98803252,98803252,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg624Arg/c.1872C>T|1534|SLIT1|protein_coding|CODING|NM_003061.2|19|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0501,0.0634,0.1262,0.10,0.02,0.14,,,,,,,,,,,,,,,,
synonymous_variant,SLIT1,SILENT,NM_003061.2:p.Ala437Ala/c.1311G>C,gcG/gcC,LOW,,0.958067,1,rs2805588,,,,,,chr10,98808866,98808866,C,G,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala437Ala/c.1311G>C|1534|SLIT1|protein_coding|CODING|NM_003061.2|14|1),"HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.987,0.998,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,ARHGAP19,MISSENSE,NM_032900.5:p.His367Tyr/c.1099C>T,Cac/Tac,MODERATE,,0.00938498,0,rs34038589,0.02(D),"0.002,0.034,0.118(B,B,B)",0(N),-1.0552(T),,chr10,99003811,99003811,G,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His338Tyr/c.1012C>T|465|ARHGAP19|protein_coding|CODING|NM_001204300.1|7|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His358Tyr/c.1072C>T|485|ARHGAP19|protein_coding|CODING|NM_001256423.1|8|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His367Tyr/c.1099C>T|494|ARHGAP19|protein_coding|CODING|NM_032900.5|8|1),non_coding_exon_variant(MODIFIER|||n.1145C>T||ARHGAP19-SLIT1||NON_CODING|NR_037909.1|8|1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0086,0.0338,0.02,0.00,0.02,,0.037701(U),0.556(N),"3.19,3.21,3.2,3.21,3.21,3.03(T,T,T,T,T,T)",0.0061(T),0.097,3.139590,5.82,5.82,0.655000,2.751000,5.297000,0.700000,1.000000,1.000000,19.694
synonymous_variant,ARHGAP19,SILENT,NM_032900.5:p.Tyr313Tyr/c.939C>T,taC/taT,LOW,COSM147011(1),0.252196,0.0992,rs13439,,,,,,chr10,99006083,99006083,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr284Tyr/c.852C>T|465|ARHGAP19|protein_coding|CODING|NM_001204300.1|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr304Tyr/c.912C>T|485|ARHGAP19|protein_coding|CODING|NM_001256423.1|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr313Tyr/c.939C>T|494|ARHGAP19|protein_coding|CODING|NM_032900.5|7|1),non_coding_exon_variant(MODIFIER|||n.985C>T||ARHGAP19-SLIT1||NON_CODING|NR_037909.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2771,0.2651,0.2674,0.32,0.32,0.32,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP19,SILENT,NM_032900.5:p.His274His/c.822T>C,caT/caC,LOW,,0.844449,0.8095,rs2253301,,,,,,chr10,99019177,99019177,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His274His/c.822T>C|465|ARHGAP19|protein_coding|CODING|NM_001204300.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His265His/c.795T>C|485|ARHGAP19|protein_coding|CODING|NM_001256423.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His274His/c.822T>C|494|ARHGAP19|protein_coding|CODING|NM_032900.5|5|1),non_coding_exon_variant(MODIFIER|||n.868T>C||ARHGAP19-SLIT1||NON_CODING|NR_037909.1|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8344,0.9337,0.9692,0.90,0.76,0.97,,,,,,,,,,,,,,,,
missense_variant,FRAT1,MISSENSE,NM_005479.3:p.Val130Met/c.388G>A,Gtg/Atg,MODERATE,,,,,0.02(D),0.917(D),1.735(L),-0.9762(T),,chr10,99079598,99079598,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val130Met/c.388G>A|279|FRAT1|protein_coding|CODING|NM_005479.3|1|1),"K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,,,,,0.555648(U),1.000(N),,0.1800(T),0.393,2.054160,3.12,2.16,0.491000,0.599000,1.880000,0.086000,0.302000,1.000000,7.9623
missense_variant,RRP12,MISSENSE,NM_015179.3:p.Arg1281Gln/c.3842G>A,cGg/cAg,MODERATE,,0.283347,0.3075,rs1048445,0.52(T),"0.001,0.002,0.003,0.0(B,B,B,B)",-1.24(N),-0.9504(T),,chr10,99116903,99116903,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1220Gln/c.3659G>A|1236|RRP12|protein_coding|CODING|NM_001145114.1|32|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1181Gln/c.3542G>A|1197|RRP12|protein_coding|CODING|NM_001284337.1|31|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1281Gln/c.3842G>A|1297|RRP12|protein_coding|CODING|NM_015179.3|34|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4039,0.2853,0.2813,0.24,0.17,0.27,,0.004349(N),0.804(P),"1.56,1.55,1.56,1.55(T,T,T,T)",0.0000(T),0.052,1.542652,5.4,3.1,-0.258000,0.374000,2.901000,0.991000,0.999000,1.000000,10.3808
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Asp1115Asp/c.3345C>T,gaC/gaT,LOW,,0.272963,0.3095,rs2275581,,,,,,chr10,99126249,99126249,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1054Asp/c.3162C>T|1236|RRP12|protein_coding|CODING|NM_001145114.1|26|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1015Asp/c.3045C>T|1197|RRP12|protein_coding|CODING|NM_001284337.1|25|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1115Asp/c.3345C>T|1297|RRP12|protein_coding|CODING|NM_015179.3|28|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3814,0.2622,0.2584,0.23,0.18,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Ala969Ala/c.2907A>G,gcA/gcG,LOW,,0.14976,0.1488,rs6584122,,,,,,chr10,99129230,99129230,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala908Ala/c.2724A>G|1236|RRP12|protein_coding|CODING|NM_001145114.1|23|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala869Ala/c.2607A>G|1197|RRP12|protein_coding|CODING|NM_001284337.1|22|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala969Ala/c.2907A>G|1297|RRP12|protein_coding|CODING|NM_015179.3|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1033,0.1297,0.1203,0.15,0.20,0.13,,,,,,,,,,,,,,,,
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Leu570Leu/c.1708C>T,Ctg/Ttg,LOW,COSM147014(2),0.0597045,0.1131,rs41300217,,,,,,chr10,99139140,99139140,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu509Leu/c.1525C>T|1236|RRP12|protein_coding|CODING|NM_001145114.1|13|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu470Leu/c.1408C>T|1197|RRP12|protein_coding|CODING|NM_001284337.1|12|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu570Leu/c.1708C>T|1297|RRP12|protein_coding|CODING|NM_015179.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0634,0.0648,0.0487,0.05,0.02,0.06,,,,,,,,,,,,,,,,
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Ala452Ala/c.1356T>C,gcT/gcC,LOW,COSM3931177(1),0.404752,0.3125,rs2275089,,,,,,chr10,99141205,99141205,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala391Ala/c.1173T>C|1236|RRP12|protein_coding|CODING|NM_001145114.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala352Ala/c.1056T>C|1197|RRP12|protein_coding|CODING|NM_001284337.1|9|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala452Ala/c.1356T>C|1297|RRP12|protein_coding|CODING|NM_015179.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4141,0.3415,0.337,0.38,0.49,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Thr436Thr/c.1308G>A,acG/acA,LOW,COSM1350177(6),0.26278,0.3125,rs12218483,,,,,,chr10,99141484,99141484,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr375Thr/c.1125G>A|1236|RRP12|protein_coding|CODING|NM_001145114.1|9|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr336Thr/c.1008G>A|1197|RRP12|protein_coding|CODING|NM_001284337.1|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr436Thr/c.1308G>A|1297|RRP12|protein_coding|CODING|NM_015179.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3865,0.2579,0.2604,0.22,0.15,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Phe148Phe/c.444C>T,ttC/ttT,LOW,COSM3752071(1),0.404153,0.3125,rs3814553,,,,,,chr10,99155984,99155984,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe148Phe/c.444C>T|1236|RRP12|protein_coding|CODING|NM_001145114.1|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe148Phe/c.444C>T|1197|RRP12|protein_coding|CODING|NM_001284337.1|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe148Phe/c.444C>T|1297|RRP12|protein_coding|CODING|NM_015179.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4131,0.3429,0.337,0.38,0.49,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Gly93Gly/c.279T>C,ggT/ggC,LOW,,0.400559,0.3125,rs1048442,,,,,,chr10,99160152,99160152,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly93Gly/c.279T>C|1236|RRP12|protein_coding|CODING|NM_001145114.1|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly93Gly/c.279T>C|1197|RRP12|protein_coding|CODING|NM_001284337.1|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly93Gly/c.279T>C|1297|RRP12|protein_coding|CODING|NM_015179.3|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,HMEC:H3K9ac,NHEK:H3K4me3,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:Cjun,HeLa-S3:PolII,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,CD4:H2BK12ac,K562:DNase1",,,,0.4121,0.3444,0.336,0.38,0.50,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RRP12,SILENT,NM_015179.3:p.Pro8Pro/c.24T>C,ccT/ccC,LOW,,0.926917,0.875,rs2275091,,,,,,chr10,99160965,99160965,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro8Pro/c.24T>C|1236|RRP12|protein_coding|CODING|NM_001145114.1|1|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro8Pro/c.24T>C|1197|RRP12|protein_coding|CODING|NM_001284337.1|1|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro8Pro/c.24T>C|1297|RRP12|protein_coding|CODING|NM_015179.3|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,K562:ETS1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:SP1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,HeLa-S3:Gabp,HeLa-S3:PolII,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HUVEC:FAIRE,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,K562:PU1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,CD4:p300,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,GM12878:PU1,CD4:H3K9ac,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,CD4:H2BK12ac,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.9397,0.9827,0.9771,0.95,0.89,0.98,,,,,,,,,,,,,,,,
synonymous_variant,EXOSC1,SILENT,NM_016046.3:p.Pro4Pro/c.12T>C,ccT/ccC,LOW,,0.095647,0.0764,rs4919098,,,,,,chr10,99205731,99205731,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro4Pro/c.12T>C|195|EXOSC1|protein_coding|CODING|NM_016046.3|1|1),upstream_gene_variant(MODIFIER||157||359|ZDHHC16|protein_coding|CODING|NM_001287803.1||1),upstream_gene_variant(MODIFIER||157||307|ZDHHC16|protein_coding|CODING|NM_001287804.1||1),upstream_gene_variant(MODIFIER||157||377|ZDHHC16|protein_coding|CODING|NM_032327.3||1),upstream_gene_variant(MODIFIER||157||361|ZDHHC16|protein_coding|CODING|NM_198043.2||1),upstream_gene_variant(MODIFIER||157||338|ZDHHC16|protein_coding|CODING|NM_198044.2||1),upstream_gene_variant(MODIFIER||157||296|ZDHHC16|protein_coding|CODING|NM_198045.2||1),upstream_gene_variant(MODIFIER||157||377|ZDHHC16|protein_coding|CODING|NM_198046.2||1),upstream_gene_variant(MODIFIER||157|||ZDHHC16||CODING|NR_109895.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,HeLa-S3:DNase1,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:SP1,GM12878:SIX5,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,HepG2:SP1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,GM12878:CTCF,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,H1ESC:Egr1,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HUVEC:FAIRE,CD4:H3K4ac,HepG2:H3K9ac,HeLa-S3:Cfos,CD4:PolII,GM12878:Cfos,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.0798,0.111,0.1223,0.13,0.11,0.13,,,,,,,,,,,,,,,,
synonymous_variant,MMS19,SILENT,NM_001289405.1:p.Ala858Ala/c.2574C>T,gcC/gcT,LOW,COSM3998166(1),0.52516,0.5863,rs2152092,,,,-0.9200(T),,chr10,99219885,99219885,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala815Ala/c.2445C>T|987|MMS19|protein_coding|CODING|NM_001289403.1|25|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala699Ala/c.2097C>T|871|MMS19|protein_coding|CODING|NM_001289404.1|25|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala858Ala/c.2574C>T|1030|MMS19|protein_coding|CODING|NM_001289405.1|27|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala858Ala/c.2574C>T|1030|MMS19|protein_coding|CODING|NM_022362.4|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5961,0.5548,0.5189,0.50,0.42,0.54,,,0.000(P),,0.0000(T),.,0.794666,5.65,-5.96,-1.177000,-0.885000,-0.942000,0.912000,0.905000,0.014000,2.905
missense_variant,MMS19,MISSENSE,NM_001289405.1:p.Gly790Asp/c.2369G>A,gGc/gAc,MODERATE,COSM147015(2),0.330072,0.375,rs3740526,,,-0.55(N),-0.9372(T),,chr10,99220707,99220707,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly747Asp/c.2240G>A|987|MMS19|protein_coding|CODING|NM_001289403.1|23|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly631Asp/c.1892G>A|871|MMS19|protein_coding|CODING|NM_001289404.1|23|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly790Asp/c.2369G>A|1030|MMS19|protein_coding|CODING|NM_001289405.1|25|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly790Asp/c.2369G>A|1030|MMS19|protein_coding|CODING|NM_022362.4|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3098,0.4063,0.4503,0.34,0.20,0.41,,,1.000(P),,0.0000(T),.,1.880974,5.66,3.64,0.484000,1.336000,1.234000,0.947000,0.647000,0.656000,4.9046
missense_variant,MMS19,MISSENSE,NM_001289405.1:p.Ala68Gly/c.203C>G,gCa/gGa,MODERATE,,0.9375,0.9613,rs2275586,0.86(T),0.001(B),-1.52(N),-0.9554(T),,chr10,99240758,99240758,G,C,hom,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala68Gly/c.203C>G|987|MMS19|protein_coding|CODING|NM_001289403.1|3|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala68Gly/c.203C>G|1030|MMS19|protein_coding|CODING|NM_001289405.1|4|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala68Gly/c.203C>G|1030|MMS19|protein_coding|CODING|NM_022362.4|3|1),5_prime_UTR_variant(MODIFIER||3636|c.-260C>G|871|MMS19|protein_coding|CODING|NM_001289404.1|2|1)","NHEK:H3K27ac,HeLa-S3:DNase1,HeLa-S3:Max,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.9233,0.9769,0.9761,0.95,0.89,0.98,,0.000059(N),0.000(P),"-0.57,-0.57,-0.57,-0.57,0.81,2.9(T,T,T,T,T,T)",0.0000(T),0.293,0.457533,6.08,6.08,-0.120000,1.599000,3.529000,0.843000,1.000000,1.000000,12.6921
synonymous_variant,ANKRD2,SILENT,NM_001291218.1:p.Ala94Ala/c.282A>C,gcA/gcC,LOW,COSM4144998(1),0.353435,0.5288,rs12221474,,,,,,chr10,99332488,99332488,A,C,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala8Ala/c.24A>C|327|ANKRD2|protein_coding|CODING|NM_001129981.2|1|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala94Ala/c.282A>C|446|ANKRD2|protein_coding|CODING|NM_001291218.1|1|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala94Ala/c.282A>C|413|ANKRD2|protein_coding|CODING|NM_001291219.1|1|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala8Ala/c.24A>C|360|ANKRD2|protein_coding|CODING|NM_020349.3|1|1),downstream_gene_variant(MODIFIER||1521||227|UBTD1|protein_coding|CODING|NM_024954.4||1)","NHEK:H3K4me1,HUVEC:H3K36me3,HMEC:H3K4me1",,,,0.4499,0.2666,0.2724,0.25,0.23,0.26,,,,,,,,,,,,,,,,
missense_variant,ANKRD2,MISSENSE,NM_001291218.1:p.Ala148Thr/c.442G>A,Gca/Aca,MODERATE,COSM147016(1),0.454073,0.4018,rs7094973,0.46(T),"0.001,0.0(B,B)",-0.345(N),-0.9870(T),,chr10,99337572,99337572,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala62Thr/c.184G>A|327|ANKRD2|protein_coding|CODING|NM_001129981.2|2|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala148Thr/c.442G>A|446|ANKRD2|protein_coding|CODING|NM_001291218.1|2|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala148Thr/c.442G>A|413|ANKRD2|protein_coding|CODING|NM_001291219.1|2|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala62Thr/c.184G>A|360|ANKRD2|protein_coding|CODING|NM_020349.3|2|1)",GM12878:H3K27me3,,,,0.4775,0.6585,0.6869,0.56,0.29,0.70,,0.221279(N),1.000(P),"0.98,0.77,0.93,0.75(T,T,T,T)",0.0000(T),0.016,0.453901,4.65,-7.86,0.561000,-1.293000,-2.752000,0.031000,0.000000,0.000000,2.8043
missense_variant,ANKRD2,MISSENSE,NM_001291218.1:p.Ile229Thr/c.686T>C,aTc/aCc,MODERATE,,,,,0.63(T),"0.871,0.831(P,P)",0.975(L),-0.8899(T),,chr10,99338154,99338154,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile143Thr/c.428T>C|327|ANKRD2|protein_coding|CODING|NM_001129981.2|3|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile229Thr/c.686T>C|446|ANKRD2|protein_coding|CODING|NM_001291218.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile229Thr/c.686T>C|413|ANKRD2|protein_coding|CODING|NM_001291219.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile143Thr/c.428T>C|360|ANKRD2|protein_coding|CODING|NM_020349.3|3|1),splice_region_variant(LOW|||c.428T>C|327|ANKRD2|protein_coding|CODING|NM_001129981.2|3|1),splice_region_variant(LOW|||c.686T>C|446|ANKRD2|protein_coding|CODING|NM_001291218.1|3|1),splice_region_variant(LOW|||c.686T>C|413|ANKRD2|protein_coding|CODING|NM_001291219.1|3|1),splice_region_variant(LOW|||c.428T>C|360|ANKRD2|protein_coding|CODING|NM_020349.3|3|1)",GM12878:H3K27me3,,,,,,,,,,,0.000153(D),0.954(D),"0.85,0.64,0.81,0.63(T,T,T,T)",0.1655(T),0.632,4.682970,5.35,5.35,0.402000,2.015000,2.132000,0.972000,0.994000,0.605000,14.9784
missense_variant,C10orf62,MISSENSE,NM_001009997.2:p.Glu121Asp/c.363G>C,gaG/gaC,MODERATE,,0.264976,0.1369,rs7093840,0.43(T),0.028(B),0.205(N),-0.9414(T),,chr10,99350017,99350017,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu121Asp/c.363G>C|223|C10orf62|protein_coding|CODING|NM_001009997.2|1|1),intron_variant(MODIFIER|||c.211+5346G>C|327|HOGA1|protein_coding|CODING|NM_138413.3|1|1),intron_variant(MODIFIER|||c.211+5346G>C|164|HOGA1|protein_coding|CODING|NM_001134670.1|1|1)",HepG2:H3K36me3,,,,0.271,0.2896,0.3082,0.32,0.33,0.31,,0.272205(N),0.995(P),0.71(T),0.0000(T),0.027,0.664348,5.27,-0.32,0.643000,-0.074000,-0.377000,0.743000,0.396000,0.000000,4.6706
synonymous_variant,C10orf62,SILENT,NM_001009997.2:p.Leu158Leu/c.474A>G,ctA/ctG,LOW,COSM1350194(2),0.277955,0.1369,rs7093643,,,,,,chr10,99350128,99350128,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu158Leu/c.474A>G|223|C10orf62|protein_coding|CODING|NM_001009997.2|1|1),intron_variant(MODIFIER|||c.211+5457A>G|327|HOGA1|protein_coding|CODING|NM_138413.3|1|1),intron_variant(MODIFIER|||c.211+5457A>G|164|HOGA1|protein_coding|CODING|NM_001134670.1|1|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.274,0.2968,0.3091,0.33,0.37,0.32,,,,,,,,,,,,,,,,
synonymous_variant,HOGA1,SILENT,NM_138413.3:p.Ala304Ala/c.912C>A,gcC/gcA,LOW,COSM4144999(1),0.317492,0.3492,rs12261752,,,,,,chr10,99371344,99371344,C,A,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala141Ala/c.423C>A|164|HOGA1|protein_coding|CODING|NM_001134670.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala304Ala/c.912C>A|327|HOGA1|protein_coding|CODING|NM_138413.3|7|1)",HepG2:H3K36me3,,,,0.407,0.2363,0.2545,0.30,0.31,0.30,,,,,,,,,,,,,,,,
synonymous_variant,MORN4,SILENT,NM_001098831.1:p.Arg123Arg/c.369A>G,cgA/cgG,LOW,COSM147020(1),0.298922,0.2817,rs3814555,,,,,,chr10,99376092,99376092,T,C,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg123Arg/c.369A>G|146|MORN4|protein_coding|CODING|NM_001098831.1|5|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg123Arg/c.369A>G|146|MORN4|protein_coding|CODING|NM_178832.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2014,0.2507,0.1978,0.29,0.44,0.22,,,,,,,,,,,,,,,,
synonymous_variant,MORN4,SILENT,NM_001098831.1:p.Pro103Pro/c.309T>C,ccT/ccC,LOW,COSM147022(1),0.334465,0.2837,rs3814556,,,,,,chr10,99376152,99376152,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro103Pro/c.309T>C|146|MORN4|protein_coding|CODING|NM_001098831.1|5|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro103Pro/c.309T>C|146|MORN4|protein_coding|CODING|NM_178832.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2014,0.2608,0.1978,0.33,0.54,0.22,,,0.000(P),,,.,-0.538700,5.03,-10.1,-1.163000,-3.319000,-2.921000,0.884000,0.146000,0.000000,3.4743
synonymous_variant,PI4K2A,SILENT,NM_018425.2:p.Pro176Pro/c.528T>C,ccT/ccC,LOW,COSM1127960(1),0.342452,0.3006,rs7915721,,,,,,chr10,99410790,99410790,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro176Pro/c.528T>C|479|PI4K2A|protein_coding|CODING|NM_018425.2|2|1),"NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2035,0.2666,0.2028,0.33,0.55,0.22,,,,,,,,,,,,,,,,
missense_variant,AVPI1,MISSENSE,NM_021732.2:p.Ala41Gly/c.122C>G,gCc/gGc,MODERATE,COSM428249(3),0.508187,0.4742,rs2275047,0.25(T),0.0(B),-1.1(N),-1.0148(T),,chr10,99439541,99439541,G,C,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala41Gly/c.122C>G|147|AVPI1|protein_coding|CODING|NM_021732.2|2|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.4908,0.438,0.3579,0.48,0.65,0.40,,,1.000(P),1.59(T),0.0000(T),0.014,0.081327,5.09,5.09,-0.216000,1.383000,1.539000,0.834000,1.000000,1.000000,13.3971
splice_acceptor_variant,AVPI1,protein_coding,NM_021732.2:c.1G>C,,HIGH,,0.21246,0.2153,rs3818780,,,,,AVPI1:1.00(1);,chr10,99439673,99439673,C,G,het,"splice_acceptor_variant(HIGH|||c.1G>C|147|AVPI1|protein_coding|CODING|NM_021732.2|2|1),intron_variant(MODIFIER|||c.-10-1G>C|147|AVPI1|protein_coding|CODING|NM_021732.2|1|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.364,0.1729,0.16,0.15,0.14,0.16,,,,,,,,,,,,,,,,
synonymous_variant,MARVELD1,SILENT,NM_031484.3:p.Pro11Pro/c.33C>G,ccC/ccG,LOW,COSM4145000(2),0.463458,0.6766,rs11189342,,,,,,chr10,99473666,99473666,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro11Pro/c.33C>G|173|MARVELD1|protein_coding|CODING|NM_031484.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K27ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HeLa-S3:Ini1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.4571,0.4337,0.2117,,,,,,,,,,,,,,,,,,,
missense_variant,ZFYVE27,MISSENSE,NM_001002261.3:p.Gly138Val/c.413G>T,gGt/gTt,MODERATE,,0.696486,0.5427,rs10882993,1(T),"0.0,0.0,0.0(B,B,B)",-0.975(N),-0.9486(T),,chr10,99504630,99504630,G,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly138Val/c.413G>T|416|ZFYVE27|protein_coding|CODING|NM_001002261.3|3|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly138Val/c.413G>T|404|ZFYVE27|protein_coding|CODING|NM_001002262.3|4|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly106Val/c.317G>T|372|ZFYVE27|protein_coding|CODING|NM_001174119.1|3|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly40Val/c.119G>T|311|ZFYVE27|protein_coding|CODING|NM_001174121.1|2|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly138Val/c.413G>T|411|ZFYVE27|protein_coding|CODING|NM_144588.6|4|1),intron_variant(MODIFIER|||c.198-3396G>T|318|ZFYVE27|protein_coding|CODING|NM_001174120.1|2|1),intron_variant(MODIFIER|||c.198-4601G>T|286|ZFYVE27|protein_coding|CODING|NM_001174122.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118905.2,,0.7117,0.6023,0.7962,0.76,0.77,0.76,,0.000001(N),0.000(P),"1.58,1.58,1.85,1.86,1.85,1.85,1.84(T,T,T,T,T,T,T)",0.0000(T),0.195,-1.617960,5.65,4.53,-1.182000,0.428000,3.331000,0.049000,0.509000,1.000000,8.6274
missense_variant,SFRP5,MISSENSE,NM_003015.3:p.Gly7Ala/c.20G>C,gGg/gCg,MODERATE,COSM4145005(1),0.78155,0.5288,rs11815012,1(T),,0(N),-0.9606(T),,chr10,99531571,99531571,C,G,het,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly7Ala/c.20G>C|317|SFRP5|protein_coding|CODING|NM_003015.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,0.7924,0.6455,0.8579,,,,,0.814197(N),1.000(P),-0.17(T),0.0000(T),0.13,-1.549027,.,.,-2.337000,-2.328000,-2.256000,0.046000,0.012000,0.000000,.
missense_variant,CRTAC1,MISSENSE,NM_018058.6:p.Gly520Arg/c.1558G>A,Ggg/Agg,MODERATE,,0.000399361,0,rs142410532,0.52(T),"0.008,0.01,0.035(B,B,B)",1.43(L),-1.0097(T),,chr10,99644037,99644037,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly520Arg/c.1558G>A|645|CRTAC1|protein_coding|CODING|NM_001206528.2|12|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly520Arg/c.1558G>A|661|CRTAC1|protein_coding|CODING|NM_018058.6|12|1)",HepG2:H3K27me3,,,,0,0.0014,0.001,0.00,0.00,0.00,,0.299028(N),1.000(N),"1.52,-0.72,1.53,0.12,0.12(T,T,T,T,T)",0.2167(T),0.112,0.842500,5.67,-1.38,0.462000,-0.106000,0.554000,0.937000,0.000000,0.000000,5.4327
synonymous_variant,CRTAC1,SILENT,NM_018058.6:p.Gly437Gly/c.1311C>A,ggC/ggA,LOW,,0.0339457,0,rs577537,,,,,,chr10,99655648,99655648,G,T,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly437Gly/c.1311C>A|645|CRTAC1|protein_coding|CODING|NM_001206528.2|10|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly437Gly/c.1311C>A|661|CRTAC1|protein_coding|CODING|NM_018058.6|10|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0266,0.0375,0.0726,0.06,0.05,0.06,,,,,,,,,,,,,,,,
missense_variant,R3HCC1L,MISSENSE,NM_001256619.1:p.Asp445Gly/c.1334A>G,gAt/gGt,MODERATE,,,,rs144983345,,"0.003,0.003(B,B)",1.78(L),-1.0666(T),,chr10,99969205,99969205,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp445Gly/c.1334A>G|792|R3HCC1L|protein_coding|CODING|NM_001256619.1|5|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp445Gly/c.1334A>G|778|R3HCC1L|protein_coding|CODING|NM_001256620.1|4|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp445Gly/c.1334A>G|778|R3HCC1L|protein_coding|CODING|NM_014472.4|4|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp445Gly/c.1334A>G|778|R3HCC1L|protein_coding|CODING|NM_138469.2|5|1),intron_variant(MODIFIER|||c.4-22064A>G|184|R3HCC1L|protein_coding|CODING|NM_001256621.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.046534(N),1.000(D),"2.61,2.61(T,T)",0.0315(T),0.188,-0.550219,4.85,2.52,-1.937000,0.052000,1.000000,0.104000,0.925000,0.898000,8.8439
missense_variant,R3HCC1L,MISSENSE,NM_001256619.1:p.Asp535Ala/c.1604A>C,gAc/gCc,MODERATE,,0.135783,0.0298,rs34494334,,"0.003,0.003(B,B)",1.175(L),-0.9268(T),,chr10,99969475,99969475,A,C,het,"missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp535Ala/c.1604A>C|792|R3HCC1L|protein_coding|CODING|NM_001256619.1|5|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp535Ala/c.1604A>C|778|R3HCC1L|protein_coding|CODING|NM_001256620.1|4|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp535Ala/c.1604A>C|778|R3HCC1L|protein_coding|CODING|NM_014472.4|4|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp535Ala/c.1604A>C|778|R3HCC1L|protein_coding|CODING|NM_138469.2|5|1),intron_variant(MODIFIER|||c.4-21794A>C|184|R3HCC1L|protein_coding|CODING|NM_001256621.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1053,0.1499,0.2217,0.20,0.18,0.22,,0.388881(N),0.000(P),"3.21,3.21(T,T)",0.0000(T),0.069,0.295168,5.15,-0.501,-0.501000,-0.020000,0.319000,0.581000,0.987000,0.992000,4.5381
missense_variant,R3HCC1L,MISSENSE,NM_001256619.1:p.His656Arg/c.1967A>G,cAt/cGt,MODERATE,,0.991813,1,rs1952061,,"0.0,0.0,0.0(B,B,B)",-2.34(N),-0.9507(T),,chr10,99991408,99991408,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His656Arg/c.1967A>G|792|R3HCC1L|protein_coding|CODING|NM_001256619.1|7|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His642Arg/c.1925A>G|778|R3HCC1L|protein_coding|CODING|NM_001256620.1|5|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His48Arg/c.143A>G|184|R3HCC1L|protein_coding|CODING|NM_001256621.1|4|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His642Arg/c.1925A>G|778|R3HCC1L|protein_coding|CODING|NM_014472.4|5|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His642Arg/c.1925A>G|778|R3HCC1L|protein_coding|CODING|NM_138469.2|6|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,1,0.9971,1,0.99,0.97,1.00,,0.000022(N),1.000(P),"2.44,2.44,2.44,2.44(T,T,T,T)",0.0000(T),0.146,1.161179,5.73,5.73,-0.119000,1.426000,4.415000,0.996000,1.000000,1.000000,10.1814
synonymous_variant,LOXL4,SILENT,NM_032211.6:p.Ala569Ala/c.1707G>A,gcG/gcA,LOW,COSM4144274(1),0.131589,0.0288,rs17524355,,,,,,chr10,100013438,100013438,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala569Ala/c.1707G>A|756|LOXL4|protein_coding|CODING|NM_032211.6|11|1),"IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1053,0.1484,0.2207,0.20,0.17,0.21,,,,,,,,,,,,,,,,
synonymous_variant,LOXL4,SILENT,NM_032211.6:p.His281His/c.843C>T,caC/caT,LOW,COSM3722378(3),0.501597,0.752,rs7077073,,,,,,chr10,100018844,100018844,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His281His/c.843C>T|756|LOXL4|protein_coding|CODING|NM_032211.6|6|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5869,0.6138,0.4473,0.37,0.27,0.42,,,,,,,,,,,,,,,,
missense_variant,HPSE2,MISSENSE,NM_021828.4:p.Tyr579Phe/c.1736A>T,tAt/tTt,MODERATE,COSM426898(1),0.530551,0.5119,rs10883100,1(T),"0.98,0.98,0.003(D,D,B)",0.51(N),-1.0977(T),,chr10,100219374,100219374,T,A,het,"missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr521Phe/c.1562A>T|534|HPSE2|protein_coding|CODING|NM_001166244.1|11|1),missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr467Phe/c.1400A>T|480|HPSE2|protein_coding|CODING|NM_001166245.1|10|1),missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr579Phe/c.1736A>T|592|HPSE2|protein_coding|CODING|NM_021828.4|12|1),3_prime_UTR_variant(MODIFIER||2169|c.*159A>T|548|HPSE2|protein_coding|CODING|NM_001166246.1|13|1)","K562:PolII,K562:Gata2,HepG2:H3K27me3,K562:DNase1",,,,0.4427,0.5346,0.5099,0.53,0.62,0.49,,0.000001(D),0.000(P),"0.99,1.0,1.0(T,T,T)",0.0000(T),0.299,2.301038,5.31,5.31,0.528000,2.013000,7.564000,0.999000,1.000000,1.000000,15.2788
synonymous_variant,CNNM1,SILENT,NM_020348.2:p.Val428Val/c.1284T>G,gtT/gtG,LOW,COSM4144279(1),0.869808,0.872,rs2862600,,,,,,chr10,101090428,101090428,T,G,hom,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val428Val/c.1284T>G|951|CNNM1|protein_coding|CODING|NM_020348.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8947,0.7435,0.8201,0.87,0.94,0.83,,,,,,,,,,,,,,,,
missense_variant,CNNM1,MISSENSE,NM_020348.2:p.Arg819Gln/c.2456G>A,cGg/cAg,MODERATE,COSM3751476(1),0.0385383,0.003,rs2298316,0.85(T),"0.096,0.334,0.201(B,B,B)",1.245(L),-1.0778(T),,chr10,101147692,101147692,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg819Gln/c.2456G>A|951|CNNM1|protein_coding|CODING|NM_020348.2|8|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0153,0.0937,0.1074,0.08,0.02,0.11,,0.001952(N),0.720(P),"1.45,1.45,1.45,1.45(T,T,T,T)",0.0014(T),0.264,2.020394,5.05,5.05,0.655000,2.493000,2.716000,0.971000,1.000000,0.869000,16.9713
synonymous_variant,NKX2-3,SILENT,NM_145285.2:p.Ala49Ala/c.147C>A,gcC/gcA,LOW,COSM426905(3),0.551318,0.5546,rs41290504,,,,,,chr10,101293035,101293035,C,A,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala49Ala/c.147C>A|364|NKX2-3|protein_coding|CODING|NM_145285.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5481,0.5994,0.503,0.54,0.57,0.52,,,,,,,,,,,,,,,,
missense_variant,COX15,MISSENSE,NM_004376.5:p.Phe374Leu/c.1120T>C,Ttt/Ctt,MODERATE,,0.827077,0.7817,rs2231687,0.05(D),0.0(B),,-1.0500(T),,chr10,101473218,101473218,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe374Leu/c.1120T>C|388|COX15|protein_coding|CODING|NM_004376.5|9|1),3_prime_UTR_variant(MODIFIER||1126|c.*1126T>C|410|COX15|protein_coding|CODING|NM_078470.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116814.2,,0.8855,0.8746,0.8787,0.83,0.76,0.87,,,1.000(P),,0.0000(T),0.013,0.759262,2.13,0.947,0.459000,0.258000,0.248000,0.514000,0.001000,0.001000,3.9133
missense_variant,ABCC2,MISSENSE,NM_000392.4:p.Tyr39Phe/c.116A>T,tAc/tTc,MODERATE,,0.994609,1,rs927344,1(T),0.0(B),-1.36(N),-0.9366(T),,chr10,101544447,101544447,A,T,hom,missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr39Phe/c.116A>T|1545|ABCC2|protein_coding|CODING|NM_000392.4|2|1),"HepG2:H3K4me2,IMR90:H2BK120ac,HeLa-S3:H3K79me2,IMR90:H4K5ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:H2BK12ac,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K36me3,IMR90:H3K18ac,HepG2:H3K79me2,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,1,0.9971,1,0.99,0.98,1.00,,0.000000(N),0.985(P),"0.5,0.5(T,T)",0.0000(T),0.287,1.136597,5.58,5.58,-0.364000,0.948000,4.997000,0.975000,1.000000,1.000000,11.2312
missense_variant,ABCC2,MISSENSE,NM_000392.4:p.Val417Ile/c.1249G>A,Gtt/Att,MODERATE,COSM1179584(2),0.186502,0.0962,rs2273697,0.15(T),0.032(B),0.49(N),-1.0973(T),,chr10,101563815,101563815,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val417Ile/c.1249G>A|1545|ABCC2|protein_coding|CODING|NM_000392.4|10|1),"NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2781,0.1585,0.2038,0.19,0.19,0.19,,0.156921(N),0.014(P),-2.76(D),0.0009(T),0.012,1.903578,5.48,-10.3,-1.022000,-1.996000,-0.363000,0.617000,0.132000,0.000000,20.1781
missense_variant,ABCC2,MISSENSE,NM_000392.4:p.Val1188Glu/c.3563T>A,gTg/gAg,MODERATE,,0.0373403,0,rs17222723,1(T),0.004(B),-0.875(N),-0.8066(T),,chr10,101595996,101595996,T,A,het,missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val1188Glu/c.3563T>A|1545|ABCC2|protein_coding|CODING|NM_000392.4|25|1),"NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0174,0.0375,0.0696,0.06,0.06,0.06,,0.001230(N),1.000(N),-2.29(D),0.0206(T),0.096,-1.293852,5.48,-10.5,0.260000,-1.306000,-2.654000,0.282000,0.000000,0.000000,0.9068
synonymous_variant,ABCC2,SILENT,NM_000392.4:p.His1496His/c.4488C>T,caC/caT,LOW,,0.0309505,0,rs8187707,,,,,,chr10,101610533,101610533,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1496His/c.4488C>T|1545|ABCC2|protein_coding|CODING|NM_000392.4|31|1),"H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:H4K5ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0174,0.0346,0.0696,0.05,0.04,0.06,,,,,,,,,,,,,,,,
missense_variant,ABCC2,MISSENSE,NM_000392.4:p.Cys1515Tyr/c.4544G>A,tGc/tAc,MODERATE,,0.0678914,0,rs8187710,0.53(T),0.0(B),-0.595(N),-1.0796(T),,chr10,101611294,101611294,G,A,het,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys1515Tyr/c.4544G>A|1545|ABCC2|protein_coding|CODING|NM_000392.4|32|1),"NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0174,0.0548,0.0706,0.09,0.16,0.06,,0.000005(N),0.000(P),-0.16(T),0.0002(T),0.05,0.907406,4.58,1.96,-0.361000,0.241000,0.593000,0.717000,0.931000,0.174000,4.8001
synonymous_variant,DNMBP,SILENT,NM_015221.2:p.Ser1440Ser/c.4320C>T,tcC/tcT,LOW,COSM4144282(1),0.464457,0.2679,rs2255901,,,,,,chr10,101639796,101639796,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1440Ser/c.4320C>T|1577|DNMBP|protein_coding|CODING|NM_015221.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.4796,0.4798,0.5388,0.53,0.53,0.52,,,,,,,,,,,,,,,,
synonymous_variant,DNMBP,SILENT,NM_015221.2:p.Pro1248Pro/c.3744A>G,ccA/ccG,LOW,,0.478634,0.2698,rs2490763,,,,,,chr10,101645498,101645498,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1248Pro/c.3744A>G|1577|DNMBP|protein_coding|CODING|NM_015221.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4826,0.4827,0.5388,0.54,0.58,0.52,,,,,,,,,,,,,,,,
missense_variant,DNMBP,MISSENSE,NM_015221.2:p.Pro820Leu/c.2459C>T,cCa/cTa,MODERATE,,0.00439297,0,rs114927649,0.62(T),"0.011,0.004,0.015(B,B,B)",0.385(N),-1.0591(T),,chr10,101667847,101667847,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro820Leu/c.2459C>T|1577|DNMBP|protein_coding|CODING|NM_015221.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0072,0.002,0.00,0.00,0.00,,0.035886(N),1.000(D),"-0.11,2.18,2.18,-0.11(T,T,T,T)",0.0760(T),0.368,1.951409,5.99,3.96,0.655000,1.499000,1.509000,0.824000,1.000000,1.000000,7.4245
synonymous_variant,DNMBP,SILENT,NM_015221.2:p.Pro444Pro/c.1332C>T,ccC/ccT,LOW,COSM3997726(1),0.441494,0.2579,rs2862923,,,,,,chr10,101715899,101715899,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro444Pro/c.1332C>T|1577|DNMBP|protein_coding|CODING|NM_015221.2|4|1),intron_variant(MODIFIER|||n.331+310G>A||DNMBP-AS1||NON_CODING|NR_024130.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3701,0.4352,0.4175,0.49,0.62,0.43,,,,,,,,,,,,,,,,
missense_variant,ERLIN1,MISSENSE,NM_001100626.1:p.Ile291Val/c.871A>G,Att/Gtt,MODERATE,COSM3751487(2),0.1877,0.0665,rs2862954,0.19(T),"0.021,0.015(B,B)",0.91(L),-0.9499(T),,chr10,101912064,101912064,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile291Val/c.871A>G|348|ERLIN1|protein_coding|CODING|NM_001100626.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile291Val/c.871A>G|348|ERLIN1|protein_coding|CODING|NM_006459.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1452,0.2997,0.4811,0.35,0.10,0.47,,0.000283(U),0.000(P),"-0.22,-0.22(T,T)",0.0000(T),0.097,2.695080,5.49,4.36,0.459000,1.037000,5.751000,0.973000,1.000000,1.000000,9.7803
missense_variant,CHUK,MISSENSE,NM_001278.3:p.Val268Ile/c.802G>A,Gta/Ata,MODERATE,COSM3997731(3),0.545727,0.5109,rs2230804,0.26(T),0.001(B),0.405(N),-0.9500(T),,chr10,101977883,101977883,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val268Ile/c.802G>A|745|CHUK|protein_coding|CODING|NM_001278.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.4294,0.5179,0.58,0.74,0.50,,0.000002(N),1.000(P),-0.53(T),0.0000(T),0.04,1.899988,6.05,4.92,-0.269000,0.543000,2.572000,0.981000,1.000000,1.000000,9.0067
missense_variant,SCD,MISSENSE,NM_005063.4:p.Met224Leu/c.670A>C,Atg/Ctg,MODERATE,COSM3997733(1),0.388978,0.4028,rs2234970,1(T),0.0(B),-3.025(N),-0.9829(T),,chr10,102116311,102116311,A,C,het,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met224Leu/c.670A>C|359|SCD|protein_coding|CODING|NM_005063.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.2618,0.5461,0.4245,0.40,0.36,0.42,,0.159772(N),1.000(P),2.43(T),0.0000(T),0.051,-1.827876,5.53,-8.81,-1.169000,-2.211000,-3.819000,0.010000,0.001000,0.000000,4.4685
missense_variant,HIF1AN,MISSENSE,NM_017902.2:p.Pro41Ala/c.121C>G,Ccc/Gcc,MODERATE,COSM426936(1),0.180711,0.253,rs2295778,0.15(T),0.0(B),1.04(L),-1.1019(T),,chr10,102295836,102295836,C,G,het,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro41Ala/c.121C>G|349|HIF1AN|protein_coding|CODING|NM_017902.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,K562:Gabp,HUVEC:H3K4me2,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.2106,0.2147,0.2694,0.19,0.05,0.26,,0.000018(D),0.003(P),-0.48(T),0.0000(T),0.145,1.496867,5.08,4.13,0.650000,2.646000,2.861000,0.351000,1.000000,1.000000,15.7617
synonymous_variant,PAX2,SILENT,NM_003990.3:p.Pro326Pro/c.978A>C,ccA/ccC,LOW,,0.375799,0.0982,rs1800898,,,,,,chr10,102568983,102568983,A,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro303Pro/c.909A>C|394|PAX2|protein_coding|CODING|NM_000278.3|7|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro326Pro/c.978A>C|417|PAX2|protein_coding|CODING|NM_003987.3|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro303Pro/c.909A>C|396|PAX2|protein_coding|CODING|NM_003988.3|7|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro303Pro/c.909A>C|409|PAX2|protein_coding|CODING|NM_003989.3|7|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro326Pro/c.978A>C|432|PAX2|protein_coding|CODING|NM_003990.3|8|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2781,0.2363,0.2594,0.44,0.74,0.29,,,,,,,,,,,,,,,,
synonymous_variant,LZTS2,SILENT,NM_032429.2:p.Ala553Ala/c.1659A>G,gcA/gcG,LOW,COSM3722442(3),0.367412,0.5387,rs807024,,,,,,chr10,102766574,102766574,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala553Ala/c.1659A>G|669|LZTS2|protein_coding|CODING|NM_032429.2|5|1),downstream_gene_variant(MODIFIER||866||1033|PDZD7|protein_coding|CODING|NM_001195263.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.3271,0.2346,0.27,0.33,0.24,,,,,,,,,,,,,,,,
missense_variant,PDZD7,MISSENSE,NM_001195263.1:p.Asn855Thr/c.2564A>C,aAc/aCc,MODERATE,,0.772963,0.6647,rs386615201,0.56(T),,-0.345(N),-1.0295(T),,chr10,102770082,102770082,T,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn855Thr/c.2564A>C|1033|PDZD7|protein_coding|CODING|NM_001195263.1|15|1),,,RCV000037105.1,,0.7914,0.8429,0.833,,,,,,1.000(P),,0.0000(T),0.013,0.429614,4.71,1.35,-0.217000,0.232000,0.097000,0.463000,0.005000,0.000000,5.225
synonymous_variant,PDZD7,SILENT,NM_001195263.1:p.Arg773Arg/c.2319T>C,cgT/cgC,LOW,,0.776158,0.6637,rs807022,,,,,,chr10,102770327,102770327,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg773Arg/c.2319T>C|1033|PDZD7|protein_coding|CODING|NM_001195263.1|15|1),,,RCV000037100.1,,0.7894,0.8429,0.833,,,,,,,,,,,,,,,,,,,
missense_variant,KAZALD1,MISSENSE,NM_030929.4:p.Gly255Ala/c.764G>C,gGc/gCc,MODERATE,COSM4144290(1),0.595647,0.4921,rs807037,1(T),0.0(B),-2.155(N),-0.9190(T),,chr10,102824349,102824349,G,C,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly255Ala/c.764G>C|304|KAZALD1|protein_coding|CODING|NM_030929.4|4|1),"H1ESC:H3K27me3,HepG2:PolII,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6452,0.549,0.6461,0.65,0.63,0.66,,0.000000(N),0.988(P),0.6(T),0.0000(T),0.119,0.948041,5.53,5.53,-0.216000,1.349000,6.064000,0.920000,1.000000,1.000000,16.5874
synonymous_variant,LBX1,SILENT,NM_006562.4:p.Arg76Arg/c.228C>T,cgC/cgT,LOW,COSM3749078(10),0.129193,0.0575,rs941909,,,,,,chr10,102988345,102988345,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg76Arg/c.228C>T|281|LBX1|protein_coding|CODING|NM_006562.4|1|1),upstream_gene_variant(MODIFIER||1006|||LBX1-AS1||NON_CODING|NR_029380.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,0.0654,0.1787,0.2863,0.22,0.12,0.28,,,,,,,,,,,,,,,,
missense_variant,POLL,MISSENSE,NM_001174084.1:p.Arg438Trp/c.1312C>T,Cgg/Tgg,MODERATE,,0.0998403,0.0347,rs3730477,0.02(D),"0.714,0.834,0.693,0.834,0.757,0.757(P,P,P,P,P,P)",2.36(M),-1.0964(T),,chr10,103340056,103340056,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg438Trp/c.1312C>T|575|POLL|protein_coding|CODING|NM_001174084.1|8|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg346Trp/c.1036C>T|483|POLL|protein_coding|CODING|NM_001174085.1|8|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg438Trp/c.1312C>T|575|POLL|protein_coding|CODING|NM_013274.3|8|1),non_coding_exon_variant(MODIFIER|||n.1343C>T||POLL||CODING|NR_033406.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0961,0.1369,0.2207,0.18,0.07,0.23,,0.006799(N),0.000(P),"0.93,0.93,0.93,0.93,0.93,0.93,0.93,0.93,0.93,0.93(T,T,T,T,T,T,T,T,T,T)",0.0001(T),0.299,2.267434,5.63,1.68,-0.253000,0.050000,1.670000,0.595000,0.991000,0.967000,4.8301
synonymous_variant,POLL,SILENT,NM_001174084.1:p.Ser408Ser/c.1224T>C,tcT/tcC,LOW,,0.163139,0.0377,rs3730476,,,,,,chr10,103340144,103340144,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser408Ser/c.1224T>C|575|POLL|protein_coding|CODING|NM_001174084.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser316Ser/c.948T>C|483|POLL|protein_coding|CODING|NM_001174085.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser408Ser/c.1224T>C|575|POLL|protein_coding|CODING|NM_013274.3|8|1),non_coding_exon_variant(MODIFIER|||n.1255T>C||POLL||CODING|NR_033406.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.137,0.183,0.2982,0.27,0.19,0.30,,,,,,,,,,,,,,,,
synonymous_variant,DPCD,SILENT,NM_015448.1:p.Asn133Asn/c.399C>T,aaC/aaT,LOW,,0.0998403,0.0347,rs7874,,,,,,chr10,103361088,103361088,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn133Asn/c.399C>T|203|DPCD|protein_coding|CODING|NM_015448.1|4|1),upstream_gene_variant(MODIFIER||86|||MIR3158-1||NON_CODING|NR_036114.1||1),downstream_gene_variant(MODIFIER||86|||MIR3158-2||NON_CODING|NR_036115.1||1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0951,0.1369,0.2217,0.18,0.07,0.23,,,,,,,,,,,,,,,,
missense_variant,DPCD,MISSENSE,NM_015448.1:p.Leu156Ser/c.467T>C,tTg/tCg,MODERATE,COSM3751493(2),0.227236,0.1637,rs7006,0(D),,0.205(N),-0.9330(T),,chr10,103368654,103368654,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu156Ser/c.467T>C|203|DPCD|protein_coding|CODING|NM_015448.1|5|1),downstream_gene_variant(MODIFIER||1767||412|FBXW4|protein_coding|CODING|NM_022039.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.2233,0.3111,0.31,0.31,0.31,,,0.001(P),"0.83,0.83(T,T)",0.0000(T),0.073,2.997571,5.93,-0.552,-0.366000,-0.384000,0.568000,0.768000,0.079000,0.055000,10.3322
missense_variant,ELOVL3,MISSENSE,NM_152310.2:p.Asp109Asn/c.325G>A,Gat/Aat,MODERATE,,0.0177716,0,rs36103207,0.36(T),0.008(B),-0.38(N),-1.0286(T),,chr10,103988265,103988265,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp109Asn/c.325G>A|270|ELOVL3|protein_coding|CODING|NM_152310.2|3|1),downstream_gene_variant(MODIFIER||1681||302|PITX3|protein_coding|CODING|NM_005029.3||1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0337,0.0173,0.0408,0.03,0.01,0.04,,0.000002(N),1.000(N),2.01(T),0.0057(T),0.016,0.641134,4.67,-6.61,-0.974000,-1.596000,-0.529000,0.000000,0.000000,0.000000,8.8107
synonymous_variant,PITX3,SILENT,NM_005029.3:p.Ile95Ile/c.285C>T,atC/atT,LOW,,0.664137,0.7718,rs2281983,,,,,,chr10,103991381,103991381,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile95Ile/c.285C>T|302|PITX3|protein_coding|CODING|NM_005029.3|3|1),"NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.499,0.6254,0.5974,0.66,0.75,0.62,,,,,,,,,,,,,,,,
synonymous_variant,GBF1,SILENT,NM_004193.2:p.Ile1399Ile/c.4197T>C,atT/atC,LOW,,0.995807,1,rs2180707,,,,,,chr10,104136469,104136469,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1400Ile/c.4200T>C|1856|GBF1|protein_coding|CODING|NM_001199378.1|32|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1399Ile/c.4197T>C|1855|GBF1|protein_coding|CODING|NM_001199379.1|32|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1399Ile/c.4197T>C|1859|GBF1|protein_coding|CODING|NM_004193.2|32|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,GBF1,MISSENSE,NM_004193.2:p.Gly1693Ser/c.5077G>A,Ggc/Agc,MODERATE,,0.0517173,0.0456,rs11191274,0.75(T),"0.115,0.115,0.008(B,B,B)",1.245(L),-0.9028(T),,chr10,104140350,104140350,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1690Ser/c.5068G>A|1856|GBF1|protein_coding|CODING|NM_001199378.1|38|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1689Ser/c.5065G>A|1855|GBF1|protein_coding|CODING|NM_001199379.1|38|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1693Ser/c.5077G>A|1859|GBF1|protein_coding|CODING|NM_004193.2|38|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0358,0.0749,0.1213,0.09,0.02,0.13,,0.006510(N),1.000(P),3.07(T),0.0001(T),0.028,-1.878389,5.91,-3.65,-1.058000,-0.640000,-0.664000,0.082000,0.031000,0.000000,8.0024
synonymous_variant,NFKB2,SILENT,NM_001077494.3:p.Pro423Pro/c.1269A>G,ccA/ccG,LOW,COSM3749079(14),0.986821,1,rs4919633,,,,,,chr10,104159196,104159196,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro423Pro/c.1269A>G|900|NFKB2|protein_coding|CODING|NM_001077494.3|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro423Pro/c.1269A>G|899|NFKB2|protein_coding|CODING|NM_001261403.2|12|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro423Pro/c.1269A>G|899|NFKB2|protein_coding|CODING|NM_001288724.1|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro423Pro/c.1269A>G|899|NFKB2|protein_coding|CODING|NM_002502.5|13|1)","H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HMEC:CTCF,HeLa-S3:PolII,HepG2:HNF4A,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HepG2:Yy1,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF",,,,1,0.9942,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NFKB2,SILENT,NM_001077494.3:p.Ala607Ala/c.1821A>G,gcA/gcG,LOW,COSM4144306(1),0.986821,1,rs4919634,,,,,,chr10,104160434,104160434,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala607Ala/c.1821A>G|900|NFKB2|protein_coding|CODING|NM_001077494.3|17|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala607Ala/c.1821A>G|899|NFKB2|protein_coding|CODING|NM_001261403.2|16|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala607Ala/c.1821A>G|899|NFKB2|protein_coding|CODING|NM_001288724.1|17|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala607Ala/c.1821A>G|899|NFKB2|protein_coding|CODING|NM_002502.5|17|1),downstream_gene_variant(MODIFIER||1940||1024|PSD|protein_coding|CODING|NM_001270965.1||1),downstream_gene_variant(MODIFIER||1940||645|PSD|protein_coding|CODING|NM_001270966.1||1),downstream_gene_variant(MODIFIER||1940||1024|PSD|protein_coding|CODING|NM_002779.4||1),downstream_gene_variant(MODIFIER||1940|||PSD||CODING|NR_073110.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TMEM180,SILENT,NM_024789.3:p.Pro68Pro/c.204C>T,ccC/ccT,LOW,COSM4144309(2),0.410144,0.3075,rs41306870,,,,,,chr10,104229785,104229785,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro68Pro/c.204C>T|517|TMEM180|protein_coding|CODING|NM_024789.3|4|1),"H1ESC:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.366,0.5636,0.49,0.38,0.55,,,,,,,,,,,,,,,,
synonymous_variant,TMEM180,SILENT,NM_024789.3:p.Val243Val/c.729A>G,gtA/gtG,LOW,COSM4144312(1),0.410144,0.3075,rs11191295,,,,,,chr10,104231054,104231054,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val243Val/c.729A>G|517|TMEM180|protein_coding|CODING|NM_024789.3|6|1),"H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.366,0.5636,0.49,0.38,0.55,,,,,,,,,,,,,,,,
missense_variant,WBP1L,MISSENSE,NM_001083913.1:p.Ser323Pro/c.967T>C,Tcc/Ccc,MODERATE,COSM3751498(1),0.543331,0.3988,rs284860,0.41(T),"0.001,0.0(B,B)",-0.55(N),-0.9609(T),,chr10,104572963,104572963,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser323Pro/c.967T>C|363|WBP1L|protein_coding|CODING|NM_001083913.1|4|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser302Pro/c.904T>C|342|WBP1L|protein_coding|CODING|NM_017787.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6452,0.5764,0.5954,0.57,0.54,0.59,,0.050492(N),0.996(P),"1.5,1.5(T,T)",0.0000(T),0.026,-0.144511,5.93,5.02,-0.224000,0.848000,0.607000,0.908000,1.000000,0.068000,8.4169
missense_variant,WBP1L,MISSENSE,NM_001083913.1:p.Ala341Ser/c.1021G>T,Gca/Tca,MODERATE,,0.146565,0.131,rs284859,0.26(T),"0.072,0.033(B,B)",1.1(L),-1.0028(T),,chr10,104573017,104573017,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala341Ser/c.1021G>T|363|WBP1L|protein_coding|CODING|NM_001083913.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala320Ser/c.958G>T|342|WBP1L|protein_coding|CODING|NM_017787.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2014,0.2248,0.1909,0.13,0.06,0.16,,0.035897(N),0.831(P),"1.46,1.48(T,T)",0.0000(T),0.102,1.638993,5.94,4.11,-0.258000,0.870000,3.075000,0.363000,0.027000,0.962000,12.6473
missense_variant,PDCD11,MISSENSE,NM_014976.1:p.Leu1216Phe/c.3646C>T,Ctc/Ttc,MODERATE,COSM3747125(1),0.478435,0.4236,rs2986014,0.71(T),0.0(B),-0.345(N),-0.9260(T),,chr10,105194086,105194086,C,T,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu1216Phe/c.3646C>T|1871|PDCD11|protein_coding|CODING|NM_014976.1|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.402,0.4235,0.41,0.45,0.39,,0.003121(N),1.000(P),2.26(T),0.0000(T),0.049,-0.787661,5.23,5.23,-0.361000,0.947000,0.859000,0.439000,1.000000,0.302000,5.2262
missense_variant,PDCD11,MISSENSE,NM_014976.1:p.Asp1871Ala/c.5612A>C,gAc/gCc,MODERATE,COSM4144322(1),0.375599,0.3185,rs7831,0(D),0.079(B),0(N),-0.9024(T),,chr10,105205302,105205302,A,C,hom,"missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp1871Ala/c.5612A>C|1871|PDCD11|protein_coding|CODING|NM_014976.1|36|1),downstream_gene_variant(MODIFIER||1241||323|CALHM2|protein_coding|CODING|NM_015916.4||1),downstream_gene_variant(MODIFIER||1241|||CALHM2||CODING|NR_024552.1||1),downstream_gene_variant(MODIFIER||1241|||CALHM2||CODING|NR_046344.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5225,0.3775,0.4006,0.34,0.29,0.37,,0.042946(N),0.928(P),2.75(T),0.0000(T),0.18,3.296773,5.6,2.85,0.459000,2.143000,0.984000,0.496000,1.000000,0.996000,3.6669
missense_variant,CALHM2,MISSENSE,NM_015916.4:p.Ala96Thr/c.286G>A,Gcc/Acc,MODERATE,,0.00898562,0,rs2232659,0.39(T),"0.048,0.024,0.009(B,B,B)",0.695(N),-1.0383(T),,chr10,105209413,105209413,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala96Thr/c.286G>A|323|CALHM2|protein_coding|CODING|NM_015916.4|3|1),non_coding_exon_variant(MODIFIER|||n.794G>A||CALHM2||CODING|NR_046344.1|3|1),non_coding_exon_variant(MODIFIER|||n.794G>A||CALHM2||CODING|NR_024552.1|3|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HSMM:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0043,0.0199,0.01,0.00,0.02,,0.005757(N),0.525(D),"2.31,2.31,2.31(T,T,T)",0.0128(T),0.092,1.809873,5.55,5.55,0.561000,2.590000,2.811000,0.629000,0.942000,0.941000,14.7384
missense_variant,CALHM1,MISSENSE,NM_001001412.3:p.Leu86Pro/c.257T>C,cTg/cCg,MODERATE,COSM4144323(1),0.872005,0.8849,rs2986017,0.4(T),0.0(B),-0.14(N),-1.0549(T),,chr10,105218252,105218252,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu86Pro/c.257T>C|346|CALHM1|protein_coding|CODING|NM_001001412.3|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8875,0.8343,0.7406,0.80,0.93,0.73,,0.524619(N),1.000(P),2.2(T),0.0000(T),0.065,0.243591,5.41,1.38,-0.320000,-0.216000,0.117000,0.370000,0.007000,0.000000,4.7971
synonymous_variant,CALHM1,SILENT,NM_001001412.3:p.Ala50Ala/c.150A>G,gcA/gcG,LOW,COSM3751506(3),0.884784,0.8849,rs2986018,,,,,,chr10,105218359,105218359,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala50Ala/c.150A>G|346|CALHM1|protein_coding|CODING|NM_001001412.3|1|1),"CD4:H4K91ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9018,0.8444,0.7714,0.82,0.94,0.76,,,,,,,,,,,,,,,,
missense_variant,CALHM3,MISSENSE,NM_001129742.1:p.Asp299Asn/c.895G>A,Gac/Aac,MODERATE,COSM3751507(2),0.740216,0.7728,rs2986035,1(T),0.005(B),-0.77(N),-1.0046(T),,chr10,105233110,105233110,C,T,hom,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp299Asn/c.895G>A|344|CALHM3|protein_coding|CODING|NM_001129742.1|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8865,0.7925,0.7555,,,,,0.004297(N),0.111(P),2.53(T),0.0000(T),0.004,0.675764,5.67,-0.339,0.462000,0.036000,1.323000,0.931000,0.822000,1.000000,4.8076
missense_variant,NEURL1,MISSENSE,NM_004210.4:p.Gly270Ser/c.808G>A,Ggc/Agc,MODERATE,,0.176518,0.1974,rs11191737,0.92(T),0.0(B),0.14(N),-0.9827(T),,chr10,105344451,105344451,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly270Ser/c.808G>A|574|NEURL1|protein_coding|CODING|NM_004210.4|4|1),"CD4:H2AZ,HeLa-S3:Cmyc,HeLa-S3:DNase1,HUVEC:H3K27me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HeLa-S3:Ap2gamma,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3,CD4:HDAC1,HeLa-S3:H3K4me3,HeLa-S3:E2F1,HeLa-S3:E2F6",,,,0.2648,0.1369,0.2346,,,,,0.084489(N),1.000(P),"1.64,1.64(T,T)",0.0000(T),0.167,-0.649314,4.61,3.71,-0.336000,1.075000,2.609000,0.312000,0.871000,0.814000,4.7944
synonymous_variant,NEURL1,SILENT,NM_004210.4:p.Pro371Pro/c.1113T>C,ccT/ccC,LOW,COSM3747126(3),0.529153,0.6478,rs2236209,,,,,,chr10,105344756,105344756,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro371Pro/c.1113T>C|574|NEURL1|protein_coding|CODING|NM_004210.4|4|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HUVEC:H3K27me3,HeLa-S3:Max,CD4:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:Ap2alpha,GM12878:PolII,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HSMM:H3K27me3,CD4:HDAC1,HeLa-S3:H3K4me3,HeLa-S3:E2F1,GM06990:DNase1,HeLa-S3:E2F6",,,,0.5859,0.5173,0.5378,0.46,0.36,0.51,,,,,,,,,,,,,,,,
synonymous_variant,SH3PXD2A,SILENT,NM_014631.2:p.Ile1025Ile/c.3075A>C,atA/atC,LOW,COSM4144326(1),0.879992,0.999,rs386421130,,,,-1.0122(T),,chr10,105361816,105361816,T,G,hom,synonymous_variant(LOW|SILENT|atA/atC|p.Ile1025Ile/c.3075A>C|1105|SH3PXD2A|protein_coding|CODING|NM_014631.2|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8865,0.8761,0.7545,0.80,0.86,0.77,,,0.000(P),,0.0000(T),.,-0.492241,5.27,2.38,-0.217000,0.247000,0.097000,0.492000,0.989000,0.972000,4.9044
synonymous_variant,SH3PXD2A,SILENT,NM_014631.2:p.Phe929Phe/c.2787C>T,ttC/ttT,LOW,COSM1287882(2),0.323083,0.3502,rs11191741,,,,-0.9630(T),,chr10,105362104,105362104,G,A,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe929Phe/c.2787C>T|1105|SH3PXD2A|protein_coding|CODING|NM_014631.2|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.3559,0.3519,0.29,0.16,0.35,,,0.000(P),,0.0000(T),.,-1.848781,5.02,1.13,-0.969000,-0.041000,0.484000,0.147000,0.499000,0.074000,8.6238
synonymous_variant,SH3PXD2A,SILENT,NM_014631.2:p.Lys894Lys/c.2682A>G,aaA/aaG,LOW,,0.91254,0.999,rs4917396,,,,-1.0076(T),,chr10,105362209,105362209,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys894Lys/c.2682A>G|1105|SH3PXD2A|protein_coding|CODING|NM_014631.2|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9121,0.8876,0.7624,0.83,0.94,0.78,,,0.000(P),,0.0000(T),.,-1.311184,4.77,2.62,-0.227000,0.471000,1.153000,0.191000,0.987000,1.000000,7.2011
missense_variant,OBFC1,MISSENSE,NM_024928.4:p.Ser248Cys/c.743C>G,tCc/tGc,MODERATE,,0.873003,1,rs10786775,0.27(T),0.0(B),-0.975(N),-1.0270(T),,chr10,105657316,105657316,G,C,hom,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser248Cys/c.743C>G|368|OBFC1|protein_coding|CODING|NM_024928.4|7|1),"NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9867,0.9193,0.9085,0.82,0.68,0.90,,0.259325(N),1.000(P),"0.8,0.8(T,T)",0.0000(T),0.064,-0.914347,5.39,1.39,-0.833000,-0.220000,-0.328000,0.007000,0.000000,0.000000,6.9363
missense_variant,OBFC1,MISSENSE,NM_024928.4:p.Thr151Ala/c.451A>G,Act/Gct,MODERATE,,0.873602,1,rs2487999,0.53(T),0.001(B),1.01(L),-0.9712(T),,chr10,105659826,105659826,T,C,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr151Ala/c.451A>G|368|OBFC1|protein_coding|CODING|NM_024928.4|5|1),"GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9888,0.9193,0.9085,0.82,0.68,0.90,,0.500526(N),1.000(P),"2.01,2.01(T,T)",0.0000(T),0.062,0.254237,5.61,-3.08,-0.215000,-0.730000,-1.844000,0.719000,0.000000,0.000000,13.7589
synonymous_variant,COL17A1,SILENT,NM_000494.3:p.Ile1087Ile/c.3261T>C,atT/atC,LOW,,0.986022,1,rs2476958,,,,,,chr10,105796819,105796819,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1087Ile/c.3261T>C|1497|COL17A1|protein_coding|CODING|NM_000494.3|47|1),"NHEK:PolII,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,1,0.9986,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL17A1,SILENT,NM_000494.3:p.Pro968Pro/c.2904A>G,ccA/ccG,LOW,COSM3751514(1),0.68151,0.7708,rs2274100,,,,,,chr10,105798872,105798872,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro968Pro/c.2904A>G|1497|COL17A1|protein_coding|CODING|NM_000494.3|44|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7137,0.7695,0.8171,0.72,0.51,0.83,,,,,,,,,,,,,,,,
synonymous_variant,COL17A1,SILENT,NM_000494.3:p.Pro961Pro/c.2883C>A,ccC/ccA,LOW,COSM3751515(1),0.683506,0.8224,rs2296219,,,,,,chr10,105799216,105799216,G,T,hom,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro961Pro/c.2883C>A|1497|COL17A1|protein_coding|CODING|NM_000494.3|43|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.7065,0.768,0.8171,0.72,0.49,0.83,,,,,,,,,,,,,,,,
synonymous_variant,COL17A1,SILENT,NM_000494.3:p.Arg865Arg/c.2595C>T,cgC/cgT,LOW,COSM3751516(2),0.673922,0.7589,rs4918079,,,,,,chr10,105801253,105801253,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg865Arg/c.2595C>T|1497|COL17A1|protein_coding|CODING|NM_000494.3|37|1),"HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6963,0.768,0.8131,0.72,0.50,0.83,,,,,,,,,,,,,,,,
missense_variant,COL17A1,MISSENSE,NM_000494.3:p.Met703Val/c.2107A>G,Atg/Gtg,MODERATE,COSM1178415(1),0.69369,0.7659,rs805722,0.3(T),0.001(B),0.08(N),-0.9591(T),,chr10,105810400,105810400,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met703Val/c.2107A>G|1497|COL17A1|protein_coding|CODING|NM_000494.3|27|1),"NHEK:H3K4me1,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.7311,0.7954,0.8052,0.72,0.52,0.82,,0.071385(N),0.091(P),"-3.22,-3.22(D,D)",0.0000(T),0.18,-1.680790,5.12,-4.21,-0.353000,-0.640000,-0.222000,0.425000,0.017000,0.001000,7.4808
missense_variant,COL17A1,MISSENSE,NM_000494.3:p.Gly428Ser/c.1282G>A,Ggc/Agc,MODERATE,,0.81849,0.8829,rs805698,0.25(T),"0.001,0.0(B,B)",-0.345(N),-0.9430(T),,chr10,105816916,105816916,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly428Ser/c.1282G>A|1497|COL17A1|protein_coding|CODING|NM_000494.3|17|1),"NHEK:PolII,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.9397,0.9395,0.9841,0.85,0.57,0.99,,0.939522(N),1.000(P),"-2.67,-2.67(D,D)",0.0000(T),0.057,0.193741,4.72,1.73,-0.671000,0.065000,0.881000,0.048000,0.003000,0.018000,8.3843
missense_variant,SFR1,MISSENSE,NM_001002759.1:p.Asp19Gly/c.56A>G,gAc/gGc,MODERATE,,0.235224,0.2292,rs10786783,0.12(T),"0.439,0.081(B,B)",1.1(L),-1.0156(T),,chr10,105882765,105882765,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp19Gly/c.56A>G|245|SFR1|protein_coding|CODING|NM_001002759.1|2|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp6Gly/c.17A>G|232|SFR1|protein_coding|CODING|NM_145247.4|2|1)","NHEK:H3K27ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me2,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.1708,0.1427,0.161,0.22,0.34,0.16,,0.340210(N),1.000(P),"0.32,0.14,-0.01(T,T,T)",0.0000(T),0.119,2.447906,4.87,0.86,0.454000,0.032000,0.609000,0.459000,0.017000,0.011000,5.9171
synonymous_variant,CFAP43,SILENT,NM_025145.5:p.Pro909Pro/c.2727G>A,ccG/ccA,LOW,,0.0700879,0.001,rs17750886,,,,-1.0252(T),,chr10,105927460,105927460,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro909Pro/c.2727G>A|1665|CFAP43|protein_coding|CODING|NM_025145.5|22|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0849,0.085,0.164,0.10,0.05,0.13,,,0.000(P),,0.0003(T),.,0.201277,5.74,-1.34,-0.300000,-0.417000,-0.595000,0.473000,0.989000,0.647000,6.0664
missense_variant,GSTO1,MISSENSE,NM_004832.2:p.Ala140Asp/c.419C>A,gCt/gAt,MODERATE,COSM147037(1),0.177316,0.13,rs4925,0.35(T),0.106(B),-0.66(N),-0.9064(T),,chr10,106022789,106022789,C,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala112Asp/c.335C>A|213|GSTO1|protein_coding|CODING|NM_001191003.1|4|1),missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala140Asp/c.419C>A|241|GSTO1|protein_coding|CODING|NM_004832.2|4|1),intron_variant(MODIFIER|||c.367-3053C>A|208|GSTO1|protein_coding|CODING|NM_001191002.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1861,0.2075,0.337,0.24,0.11,0.31,,0.046768(N),0.000(P),"2.61,2.61,2.61(T,T,T)",0.0000(T),0.322,2.201635,4.83,3.93,0.655000,1.389000,0.831000,0.099000,0.046000,0.016000,11.8844
missense_variant,GSTO2,MISSENSE,NM_183239.1:p.Asn142Asp/c.424A>G,Aat/Gat,MODERATE,COSM147038(2),0.440695,0.255,rs156697,0.63(T),0.001(B),-1.04(N),-1.0395(T),,chr10,106039185,106039185,A,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn114Asp/c.340A>G|215|GSTO2|protein_coding|CODING|NM_001191014.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn142Asp/c.424A>G|243|GSTO2|protein_coding|CODING|NM_183239.1|5|1),intron_variant(MODIFIER|||c.366+1311A>G|209|GSTO2|protein_coding|CODING|NM_001191013.1|4|1),intron_variant(MODIFIER|||c.282+1311A>G|181|GSTO2|protein_coding|CODING|NM_001191015.1|2|1)","HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3333,0.2752,0.3668,0.48,0.74,0.34,,0.003530(N),1.000(P),"2.65,3.17,2.65(T,T,T)",0.0000(T),0.044,-0.871174,5.87,3.96,-0.733000,0.851000,0.748000,0.253000,0.081000,0.009000,7.3566
synonymous_variant,SORCS3,SILENT,NM_014978.1:p.Asn456Asn/c.1368C>T,aaC/aaT,LOW,,0.489018,0.3492,rs791125,,,,,,chr10,106907440,106907440,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn456Asn/c.1368C>T|1222|SORCS3|protein_coding|CODING|NM_014978.1|9|1),,,,,0.4877,0.6268,0.5467,0.53,0.49,0.55,,,,,,,,,,,,,,,,
missense_variant,SORCS3,MISSENSE,NM_014978.1:p.Ser1172Asn/c.3515G>A,aGc/aAc,MODERATE,,0.00359425,0,rs41291854,,0.015(B),0.145(N),-1.0368(T),,chr10,107022160,107022160,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1172Asn/c.3515G>A|1222|SORCS3|protein_coding|CODING|NM_014978.1|26|1),,,,,0.002,0.0115,0.008,0.01,0.00,0.01,,0.000001(D),0.984(D),2.46(T),0.0175(T),0.014,3.001302,5.84,4.94,0.555000,1.477000,7.658000,0.997000,1.000000,1.000000,15.2482
synonymous_variant,SORCS1,SILENT,NM_001013031.2:p.Tyr923Tyr/c.2769C>T,taC/taT,LOW,,0.375998,0.5069,rs4917481,,,,,,chr10,108380213,108380213,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr923Tyr/c.2769C>T|1198|SORCS1|protein_coding|CODING|NM_001013031.2|20|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr923Tyr/c.2769C>T|1179|SORCS1|protein_coding|CODING|NM_001206569.1|20|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr923Tyr/c.2769C>T|1130|SORCS1|protein_coding|CODING|NM_001206570.1|20|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr923Tyr/c.2769C>T|1159|SORCS1|protein_coding|CODING|NM_001206571.1|20|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr923Tyr/c.2769C>T|1179|SORCS1|protein_coding|CODING|NM_001206572.1|20|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr923Tyr/c.2769C>T|1168|SORCS1|protein_coding|CODING|NM_052918.4|20|1)",,,,,0.4213,0.2435,0.171,0.26,0.43,0.17,,,,,,,,,,,,,,,,
missense_variant,DUSP5,MISSENSE,NM_004419.3:p.Ala220Thr/c.658G>A,Gcg/Acg,MODERATE,,0.973243,1,rs1889566,0.11(T),0.001(B),0.28(N),-1.0103(T),,chr10,112266822,112266822,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala220Thr/c.658G>A|384|DUSP5|protein_coding|CODING|NM_004419.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,0.9928,1,0.97,0.90,1.00,,0.000832(N),1.000(P),0.17(T),0.0000(T),0.04,2.401301,5.63,4.5,-0.254000,0.438000,1.417000,0.807000,0.792000,0.028000,6.5106
missense_variant,DUSP5,MISSENSE,NM_004419.3:p.Ala220Val/c.659C>T,gCg/gTg,MODERATE,,0.973243,1,rs1889565,0(D),0.015(B),0.715(N),-1.0237(T),,chr10,112266823,112266823,C,T,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala220Val/c.659C>T|384|DUSP5|protein_coding|CODING|NM_004419.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,0.9928,1,0.97,0.90,1.00,,0.000832(D),1.000(P),0.14(T),0.0000(T),0.053,2.840994,5.63,3.8,-0.119000,0.762000,0.910000,0.784000,0.570000,0.006000,5.6654
synonymous_variant,SMC3,SILENT,NM_005445.3:p.Ser1013Ser/c.3039A>G,tcA/tcG,LOW,,0.986821,1,rs2419565,,,,,,chr10,112361870,112361870,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1013Ser/c.3039A>G|1217|SMC3|protein_coding|CODING|NM_005445.3|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.997,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,RBM20,MISSENSE,NM_001134363.2:p.Trp768Ser/c.2303G>C,tGg/tCg,MODERATE,,0.991014,1,rs1417635,0.85(T),0.0(B),-1.24(N),-0.9954(T),,chr10,112572458,112572458,G,C,hom,missense_variant(MODERATE|MISSENSE|tGg/tCg|p.Trp768Ser/c.2303G>C|1227|RBM20|protein_coding|CODING|NM_001134363.2|9|1),K562:H3K36me3,,RCV000036963.1|RCV000127743.1,,1,0.9942,1,0.99,0.98,1.00,,0.686376(N),1.000(P),-0.4(T),0.0000(T),0.034,-2.467791,6.04,-2.2,-3.198000,-1.521000,0.613000,0.087000,0.001000,0.000000,9.457
missense_variant,RBM20,MISSENSE,NM_001134363.2:p.Glu1223Gln/c.3667G>C,Gaa/Caa,MODERATE,,0.697085,0.7956,rs942077,0.03(D),0.322(B),1.245(L),-0.9171(T),,chr10,112595719,112595719,G,C,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu1223Gln/c.3667G>C|1227|RBM20|protein_coding|CODING|NM_001134363.2|14|1),"HUVEC:H3K27me3,K562:H3K36me3",,RCV000036991.1|RCV000127750.1,,0.7035,0.7983,0.8688,0.76,0.50,0.87,,,0.027(P),-2.99(D),0.0000(T),0.087,2.837169,5.17,5.17,0.555000,2.410000,3.961000,0.460000,0.981000,1.000000,17.4485
missense_variant,PDCD4,MISSENSE,NM_014456.4:p.Ile36Val/c.106A>G,Ata/Gta,MODERATE,,0.91853,0.9901,rs7081726,0.35(T),"0.0,0.0(B,B)",0.2(N),-0.9023(T),,chr10,112641053,112641053,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile36Val/c.106A>G|469|PDCD4|protein_coding|CODING|NM_014456.4|3|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile25Val/c.73A>G|458|PDCD4|protein_coding|CODING|NM_145341.3|4|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile22Val/c.64A>G|455|PDCD4|protein_coding|CODING|NM_001199492.1|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8845,0.9654,0.9523,0.92,0.85,0.95,,0.013778(N),0.869(P),"1.6,1.6,1.58(T,T,T)",0.0000(T),0.021,-0.408818,5.63,5.63,0.477000,2.261000,0.814000,0.991000,1.000000,0.997000,7.7897
synonymous_variant,GPAM,SILENT,NM_001244949.1:p.Pro681Pro/c.2043A>T,ccA/ccT,LOW,,0.757588,0.7589,rs2254537,,,,,,chr10,113917085,113917085,T,A,hom,"synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro681Pro/c.2043A>T|828|GPAM|protein_coding|CODING|NM_001244949.1|19|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro681Pro/c.2043A>T|828|GPAM|protein_coding|CODING|NM_020918.5|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8691,0.6499,0.6879,0.72,0.75,0.71,,,,,,,,,,,,,,,,
synonymous_variant,GPAM,SILENT,NM_001244949.1:p.Asn552Asn/c.1656C>T,aaC/aaT,LOW,COSM3751526(1),0.553514,0.6002,rs2277207,,,,,,chr10,113920465,113920465,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn552Asn/c.1656C>T|828|GPAM|protein_coding|CODING|NM_001244949.1|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn552Asn/c.1656C>T|828|GPAM|protein_coding|CODING|NM_020918.5|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6196,0.4553,0.5437,0.56,0.50,0.59,,,,,,,,,,,,,,,,
missense_variant,GPAM,MISSENSE,NM_001244949.1:p.Glu131Gly/c.392A>G,gAa/gGa,MODERATE,COSM3751527(1),0.554712,0.6042,rs10787428,0.13(T),"0.081,0.057(B,B)",1.935(M),-0.9026(T),,chr10,113935379,113935379,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu131Gly/c.392A>G|828|GPAM|protein_coding|CODING|NM_001244949.1|6|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu131Gly/c.392A>G|828|GPAM|protein_coding|CODING|NM_020918.5|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6196,0.4582,0.5437,0.56,0.50,0.59,,0.000025(D),0.000(P),"-0.52,-0.52,-0.51(T,T,T)",0.0000(T),0.119,3.584072,5.11,5.11,0.528000,1.929000,7.129000,0.982000,0.729000,1.000000,13.5006
missense_variant,GPAM,MISSENSE,NM_001244949.1:p.Ile43Val/c.127A>G,Atc/Gtc,MODERATE,,0.806909,0.7629,rs2792751,1(T),"0.0,0.0(B,B)",-1.67(N),-0.9903(T),,chr10,113940329,113940329,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile43Val/c.127A>G|828|GPAM|protein_coding|CODING|NM_001244949.1|4|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile43Val/c.127A>G|828|GPAM|protein_coding|CODING|NM_020918.5|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8681,0.6671,0.6918,0.78,0.93,0.71,,0.005278(N),1.000(P),"1.78,1.78,1.78(T,T,T)",0.0000(T),0.017,-1.553994,5.91,2.8,-0.119000,0.013000,1.587000,0.083000,0.223000,0.888000,4.2806
synonymous_variant,TECTB,SILENT,NM_058222.2:p.Ser178Ser/c.534C>G,tcC/tcG,LOW,,,,rs726009,,,,,,chr10,114053546,114053546,C,G,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser178Ser/c.534C>G|329|TECTB|protein_coding|CODING|NM_058222.2|5|1),HUVEC:H3K27me3,,,,,,,0.49,0.56,0.46,,,,,,,,,,,,,,,,
synonymous_variant,ZDHHC6,SILENT,NM_022494.1:p.Thr206Thr/c.618C>T,acC/acT,LOW,COSM4144343(1),0.513978,0.4802,rs2306159,,,,,,chr10,114200355,114200355,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr206Thr/c.618C>T|413|ZDHHC6|protein_coding|CODING|NM_022494.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.5677,0.6014,0.51,0.38,0.58,,,,,,,,,,,,,,,,
synonymous_variant,HABP2,SILENT,NM_004132.3:p.His61His/c.183C>T,caC/caT,LOW,,0.534545,0.6042,rs3740530,0(D),0.584(P),,-0.9407(T),,chr10,115334124,115334124,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His35His/c.105C>T|534|HABP2|protein_coding|CODING|NM_001177660.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His61His/c.183C>T|560|HABP2|protein_coding|CODING|NM_004132.3|3|1)",H1ESC:H3K27me3,,,,0.6268,0.6354,0.6183,0.54,0.36,0.64,,,1.000(P),,0.0000(T),.,0.113538,4.31,2.41,-0.261000,0.729000,0.639000,0.013000,0.002000,0.001000,6.0471
synonymous_variant,HABP2,SILENT,NM_004132.3:p.Lys319Lys/c.957G>A,aaG/aaA,LOW,COSM3751530(1),0.376997,0.2996,rs2245056,,,,,,chr10,115341753,115341753,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys293Lys/c.879G>A|534|HABP2|protein_coding|CODING|NM_001177660.1|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys319Lys/c.957G>A|560|HABP2|protein_coding|CODING|NM_004132.3|9|1)",,,,,0.3078,0.4914,0.3917,0.42,0.42,0.42,,,,,,,,,,,,,,,,
synonymous_variant,HABP2,SILENT,NM_004132.3:p.Ala350Ala/c.1050G>A,gcG/gcA,LOW,,0.376198,0.2986,rs2245058,,,,,,chr10,115341846,115341846,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala324Ala/c.972G>A|534|HABP2|protein_coding|CODING|NM_001177660.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala350Ala/c.1050G>A|560|HABP2|protein_coding|CODING|NM_004132.3|9|1)",,,,,0.3067,0.4914,0.3917,0.42,0.41,0.42,,,,,,,,,,,,,,,,
missense_variant,HABP2,MISSENSE,NM_004132.3:p.Gly534Glu/c.1601G>A,gGg/gAg,MODERATE,,0.0081869,0,rs7080536,0(D),1.0(D),2.335(M),0.3902(D),,chr10,115348046,115348046,G,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly508Glu/c.1523G>A|534|HABP2|protein_coding|CODING|NM_001177660.1|13|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly534Glu/c.1601G>A|560|HABP2|protein_coding|CODING|NM_004132.3|13|1),downstream_gene_variant(MODIFIER||537||1731|NRAP|protein_coding|CODING|NM_001261463.1||1),downstream_gene_variant(MODIFIER||537||1695|NRAP|protein_coding|CODING|NM_006175.4||1),downstream_gene_variant(MODIFIER||537||1730|NRAP|protein_coding|CODING|NM_198060.3||1)",,,RCV000006338.1|RCV000006339.1|RCV000006340.1,,0.0041,0.0144,0.0268,0.03,0.01,0.04,,0.000000(D),1.000(D),"-3.4,-3.4(D,D)",0.6823(D),0.846,3.989569,5.93,5.93,0.561000,2.815000,7.569000,0.100000,1.000000,1.000000,20.3437
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Arg1566Cys/c.4696C>T,Cgc/Tgc,MODERATE,COSM3751532(1),0.360024,0.2996,rs1885434,0.07(T),"0.006,0.008,0.019,0.008(B,B,B,B)",2.065(M),-0.9561(T),,chr10,115350597,115350597,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1566Cys/c.4696C>T|1731|NRAP|protein_coding|CODING|NM_001261463.1|40|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1531Cys/c.4591C>T|1695|NRAP|protein_coding|CODING|NM_006175.4|39|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1566Cys/c.4696C>T|1730|NRAP|protein_coding|CODING|NM_198060.3|40|1),downstream_gene_variant(MODIFIER||1237||534|HABP2|protein_coding|CODING|NM_001177660.1||1),downstream_gene_variant(MODIFIER||1237||560|HABP2|protein_coding|CODING|NM_004132.3||1)","GM12878:H3K27me3,HepG2:H3K27me3",,,,0.319,0.4683,0.3042,0.37,0.41,0.35,,0.000538(N),0.000(P),"2.37,2.4,2.32,2.22(T,T,T,T)",0.0000(T),0.328,2.522821,5.69,3.83,0.561000,0.756000,3.514000,0.560000,1.000000,1.000000,11.8775
synonymous_variant,NRAP,SILENT,NM_001261463.1:p.Ile1189Ile/c.3567T>C,atT/atC,LOW,COSM3997753(1),0.469449,0.6032,rs12243176,,,,,,chr10,115370254,115370254,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1189Ile/c.3567T>C|1731|NRAP|protein_coding|CODING|NM_001261463.1|31|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1154Ile/c.3462T>C|1695|NRAP|protein_coding|CODING|NM_006175.4|30|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1189Ile/c.3567T>C|1730|NRAP|protein_coding|CODING|NM_198060.3|31|1)","H1ESC:H3K27me3,IMR90:H3K27me3",,,,0.4939,0.4669,0.4652,0.44,0.36,0.48,,,,,,,,,,,,,,,,
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Ile1183Val/c.3547A>G,Att/Gtt,MODERATE,COSM1180648(2),0.462859,0.5992,rs10749138,1(T),"0.001,0.001(B,B)",0.44(N),-0.9240(T),,chr10,115370274,115370274,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1183Val/c.3547A>G|1731|NRAP|protein_coding|CODING|NM_001261463.1|31|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1148Val/c.3442A>G|1695|NRAP|protein_coding|CODING|NM_006175.4|30|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1183Val/c.3547A>G|1730|NRAP|protein_coding|CODING|NM_198060.3|31|1)","H1ESC:H3K27me3,IMR90:H3K27me3",,,,0.4939,0.4669,0.4652,0.43,0.33,0.48,,0.012143(N),0.000(P),"2.64,2.66,2.52,2.44(T,T,T,T)",0.0000(T),0.043,0.714817,5.85,0.626,0.528000,-0.123000,0.173000,0.264000,0.996000,0.993000,9.7306
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Asp966Gly/c.2897A>G,gAt/gGt,MODERATE,COSM3738292(2),0.0700879,0.1528,rs77678145,0.1(T),"0.071,0.149,0.011(B,B,B)",1.355(L),-1.0789(T),,chr10,115377290,115377290,T,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp966Gly/c.2897A>G|1731|NRAP|protein_coding|CODING|NM_001261463.1|26|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp931Gly/c.2792A>G|1695|NRAP|protein_coding|CODING|NM_006175.4|25|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp966Gly/c.2897A>G|1730|NRAP|protein_coding|CODING|NM_198060.3|26|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0675,0.0677,0.0825,0.06,0.02,0.09,,0.000187(D),0.000(P),"2.43,2.46,2.32,2.23(T,T,T,T)",0.0010(T),0.306,2.390625,6.17,4.86,0.533000,2.371000,0.967000,0.999000,1.000000,1.000000,8.7616
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Arg884Cys/c.2650C>T,Cgc/Tgc,MODERATE,COSM147047(4),0.209465,0.1786,rs386618037,0.01(D),"0.582,0.761,0.582(P,P,P)",0.805(L),-0.9339(T),,chr10,115381747,115381747,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg884Cys/c.2650C>T|1731|NRAP|protein_coding|CODING|NM_001261463.1|24|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg849Cys/c.2545C>T|1695|NRAP|protein_coding|CODING|NM_006175.4|23|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg884Cys/c.2650C>T|1730|NRAP|protein_coding|CODING|NM_198060.3|24|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1851,0.4409,0.3211,0.26,0.10,0.34,,0.000110(D),0.000(P),"1.15,1.15,1.15,1.15(T,T,T,T)",0.0000(T),0.281,4.187415,5.99,5.08,0.655000,1.529000,4.833000,0.923000,1.000000,1.000000,8.3557
synonymous_variant,NRAP,SILENT,NM_001261463.1:p.Leu677Leu/c.2031C>T,ctC/ctT,LOW,COSM3997754(1),0.27476,0.2817,rs2286736,,,,,,chr10,115389356,115389356,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu677Leu/c.2031C>T|1731|NRAP|protein_coding|CODING|NM_001261463.1|19|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu642Leu/c.1926C>T|1695|NRAP|protein_coding|CODING|NM_006175.4|18|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu677Leu/c.2031C>T|1730|NRAP|protein_coding|CODING|NM_198060.3|19|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2853,0.3948,0.2962,0.27,0.21,0.30,,,,,,,,,,,,,,,,
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Ala674Val/c.2021C>T,gCc/gTc,MODERATE,COSM3997755(1),0.27476,0.2817,rs2286735,0.16(T),"0.021,0.015,0.008(B,B,B)",1.68(L),-0.9903(T),,chr10,115389366,115389366,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala674Val/c.2021C>T|1731|NRAP|protein_coding|CODING|NM_001261463.1|19|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala639Val/c.1916C>T|1695|NRAP|protein_coding|CODING|NM_006175.4|18|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala674Val/c.2021C>T|1730|NRAP|protein_coding|CODING|NM_198060.3|19|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2853,0.3948,0.2962,0.27,0.21,0.30,,0.000002(N),0.000(P),"0.99,0.99,0.99,0.99(T,T,T,T)",0.0000(T),0.393,2.619352,5.19,3.31,0.561000,1.319000,5.737000,0.976000,1.000000,1.000000,8.5936
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Asn519Ile/c.1556A>T,aAt/aTt,MODERATE,COSM3751533(1),0.258786,0.1915,rs2270182,0.19(T),"0.783,0.578,0.783(P,P,P)",0.46(N),-0.9656(T),,chr10,115392919,115392919,T,A,het,"missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn519Ile/c.1556A>T|1731|NRAP|protein_coding|CODING|NM_001261463.1|16|1),missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn484Ile/c.1451A>T|1695|NRAP|protein_coding|CODING|NM_006175.4|15|1),missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn519Ile/c.1556A>T|1730|NRAP|protein_coding|CODING|NM_198060.3|16|1)",HMEC:H3K27me3,,,,0.2382,0.2248,0.2714,0.30,0.35,0.28,,0.000002(D),0.353(P),"0.84,0.84,0.84,0.84(T,T,T,T)",0.0000(T),0.368,3.344359,5.67,5.67,0.455000,2.159000,2.477000,0.989000,0.959000,1.000000,11.4347
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Asp484Asn/c.1450G>A,Gac/Aac,MODERATE,,0.192093,0.1677,rs11196400,0.06(T),"0.211,0.477,0.353(B,P,B)",1.845(L),-0.9721(T),,chr10,115393948,115393948,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp484Asn/c.1450G>A|1731|NRAP|protein_coding|CODING|NM_001261463.1|15|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp449Asn/c.1345G>A|1695|NRAP|protein_coding|CODING|NM_006175.4|14|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp484Asn/c.1450G>A|1730|NRAP|protein_coding|CODING|NM_198060.3|15|1)",HepG2:H3K27me3,,,,0.1708,0.1124,0.1382,0.19,0.30,0.13,,0.000000(D),0.000(P),"2.35,2.41,2.23,2.16(T,T,T,T)",0.0000(T),0.055,3.317823,5.17,4.27,-0.362000,1.181000,5.350000,0.409000,0.784000,1.000000,13.9788
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Gln360Arg/c.1079A>G,cAg/cGg,MODERATE,,0.564297,0.7103,rs3127106,1(T),"0.001,0.0(B,B)",0.26(N),-0.9586(T),,chr10,115405615,115405615,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln360Arg/c.1079A>G|1731|NRAP|protein_coding|CODING|NM_001261463.1|11|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln360Arg/c.1079A>G|1695|NRAP|protein_coding|CODING|NM_006175.4|11|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln360Arg/c.1079A>G|1730|NRAP|protein_coding|CODING|NM_198060.3|11|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.638,0.6715,0.6243,0.53,0.35,0.61,,0.000051(N),1.000(P),"2.56,2.53,2.46,2.28(T,T,T,T)",0.0000(T),0.145,0.663662,5.52,4.61,-0.215000,0.826000,1.741000,0.993000,0.158000,0.977000,7.1262
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Ala344Thr/c.1030G>A,Gct/Act,MODERATE,,0.564297,0.7103,rs3121478,0.37(T),"0.022,0.006(B,B)",0.69(N),-1.0529(T),,chr10,115405664,115405664,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala344Thr/c.1030G>A|1731|NRAP|protein_coding|CODING|NM_001261463.1|11|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala344Thr/c.1030G>A|1695|NRAP|protein_coding|CODING|NM_006175.4|11|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala344Thr/c.1030G>A|1730|NRAP|protein_coding|CODING|NM_198060.3|11|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.638,0.6715,0.6243,0.53,0.35,0.61,,0.000453(D),0.999(P),"2.52,2.58,2.43,2.37(T,T,T,T)",0.0000(T),0.132,0.436087,5.65,2.78,-0.878000,0.407000,1.976000,0.009000,0.007000,0.954000,11.2516
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Ala282Thr/c.844G>A,Gct/Act,MODERATE,COSM3751534(1),0.267772,0.2173,rs2275799,0.45(T),"0.078,0.06,0.02(B,B,B)",0.345(N),-0.8950(T),,chr10,115409840,115409840,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala282Thr/c.844G>A|1731|NRAP|protein_coding|CODING|NM_001261463.1|9|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala282Thr/c.844G>A|1695|NRAP|protein_coding|CODING|NM_006175.4|9|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala282Thr/c.844G>A|1730|NRAP|protein_coding|CODING|NM_198060.3|9|1)",GM12878:H3K27me3,,,,0.2495,0.2248,0.2684,0.31,0.36,0.28,,0.000011(D),0.830(P),"2.51,2.54,2.44,2.32(T,T,T,T)",0.0000(T),0.494,1.101124,6.06,5.15,0.655000,2.876000,1.080000,0.115000,1.000000,1.000000,10.3614
synonymous_variant,NRAP,SILENT,NM_001261463.1:p.Leu213Leu/c.639G>T,ctG/ctT,LOW,COSM3751535(1),0.264577,0.2163,rs4918861,,,,,,chr10,115411598,115411598,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu213Leu/c.639G>T|1731|NRAP|protein_coding|CODING|NM_001261463.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu213Leu/c.639G>T|1695|NRAP|protein_coding|CODING|NM_006175.4|7|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu213Leu/c.639G>T|1730|NRAP|protein_coding|CODING|NM_198060.3|7|1)","IMR90:H3K27me3,HSMM:H3K27me3",,,,0.2495,0.2248,0.2684,0.30,0.34,0.28,,,,,,,,,,,,,,,,
missense_variant,NRAP,MISSENSE,NM_001261463.1:p.Val208Ala/c.623T>C,gTg/gCg,MODERATE,,0.877596,0.9038,rs2154028,0.56(T),"0.002,0.0(B,B)",-0.07(N),-1.0153(T),,chr10,115411614,115411614,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val208Ala/c.623T>C|1731|NRAP|protein_coding|CODING|NM_001261463.1|7|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val208Ala/c.623T>C|1695|NRAP|protein_coding|CODING|NM_006175.4|7|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val208Ala/c.623T>C|1730|NRAP|protein_coding|CODING|NM_198060.3|7|1)","IMR90:H3K27me3,HSMM:H3K27me3",,,,0.9039,0.9107,0.8936,0.87,0.82,0.89,,0.000189(N),0.000(P),"2.58,2.61,2.45,2.4(T,T,T,T)",0.0000(T),0.075,-0.624843,6.03,5.13,-0.227000,0.907000,2.211000,0.412000,0.940000,0.991000,9.734
synonymous_variant,NRAP,SILENT,NM_001261463.1:p.Tyr157Tyr/c.471T>C,taT/taC,LOW,COSM3751536(1),0.308107,0.2173,rs3737322,,,,,,chr10,115412793,115412793,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr157Tyr/c.471T>C|1731|NRAP|protein_coding|CODING|NM_001261463.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr157Tyr/c.471T>C|1695|NRAP|protein_coding|CODING|NM_006175.4|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr157Tyr/c.471T>C|1730|NRAP|protein_coding|CODING|NM_198060.3|6|1)","IMR90:H3K27me3,HSMM:H3K27me3",,,,0.2505,0.2378,0.2664,0.34,0.45,0.28,,,,,,,,,,,,,,,,
synonymous_variant,NRAP,SILENT,NM_001261463.1:p.His100His/c.300C>T,caC/caT,LOW,,0.876597,0.9038,rs1891762,,,,,,chr10,115417289,115417289,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His100His/c.300C>T|1731|NRAP|protein_coding|CODING|NM_001261463.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His100His/c.300C>T|1695|NRAP|protein_coding|CODING|NM_006175.4|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His100His/c.300C>T|1730|NRAP|protein_coding|CODING|NM_198060.3|4|1)","HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.9039,0.9092,0.8917,0.87,0.82,0.89,,,,,,,,,,,,,,,,
synonymous_variant,NRAP,SILENT,NM_001261463.1:p.Asn73Asn/c.219T>C,aaT/aaC,LOW,COSM147050(2),0.289137,0.2143,rs3127122,,,,,,chr10,115422474,115422474,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn73Asn/c.219T>C|1731|NRAP|protein_coding|CODING|NM_001261463.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn73Asn/c.219T>C|1695|NRAP|protein_coding|CODING|NM_006175.4|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn73Asn/c.219T>C|1730|NRAP|protein_coding|CODING|NM_198060.3|3|1)",HUVEC:H3K27me3,,,,0.2137,0.4553,0.3231,0.33,0.30,0.34,,,,,,,,,,,,,,,,
missense_variant,CASP7,MISSENSE,NM_001267057.1:p.Thr19Ile/c.56C>T,aCc/aTc,MODERATE,,0.854233,0.8224,rs386479493,,,,,,chr10,115439569,115439569,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr19Ile/c.56C>T|388|CASP7|protein_coding|CODING|NM_001267057.1|1|1),5_prime_UTR_variant(MODIFIER||17684|c.-169C>T|303|CASP7|protein_coding|CODING|NM_001227.4|1|1),5_prime_UTR_variant(MODIFIER||12162|c.-177C>T|336|CASP7|protein_coding|CODING|NM_033338.5|1|1),5_prime_UTR_variant(MODIFIER||17684|c.-243C>T|303|CASP7|protein_coding|CODING|NM_033339.4|1|1),intron_variant(MODIFIER|||c.-1+461C>T|303|CASP7|protein_coding|CODING|NM_001267056.1|1|1),intron_variant(MODIFIER|||c.-1+461C>T|253|CASP7|protein_coding|CODING|NM_033340.3|1|1)","NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HMEC:CTCF,GM12878:EBF,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,GM06990:CTCF",,,,0.863,0.6816,0.8151,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHS1,SILENT,NM_182601.1:p.Gln6Gln/c.18A>G,caA/caG,LOW,COSM3751538(2),0.233227,0.1379,rs10885500,,,,,,chr10,115526177,115526177,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln12Gln/c.36A>G|363|PLEKHS1|protein_coding|CODING|NM_024889.4|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln6Gln/c.18A>G|465|PLEKHS1|protein_coding|CODING|NM_182601.1|2|1),5_prime_UTR_variant(MODIFIER||967|c.-229A>G|366|PLEKHS1|protein_coding|CODING|NM_001193434.1|3|1),intron_variant(MODIFIER|||c.-40-927A>G|366|PLEKHS1|protein_coding|CODING|NM_001193435.1|2|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2628,0.4625,0.4175,0.30,0.09,0.40,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHS1,SILENT,NM_182601.1:p.Ala335Ala/c.1005T>C,gcT/gcC,LOW,COSM3997762(1),0.209665,0.3482,rs3750901,,,,-0.9612(T),,chr10,115535599,115535599,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala253Ala/c.759T>C|366|PLEKHS1|protein_coding|CODING|NM_001193434.1|11|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala253Ala/c.759T>C|366|PLEKHS1|protein_coding|CODING|NM_001193435.1|9|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala355Ala/c.1065T>C|363|PLEKHS1|protein_coding|CODING|NM_024889.4|11|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala335Ala/c.1005T>C|465|PLEKHS1|protein_coding|CODING|NM_182601.1|10|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2556,0.1787,0.1799,0.16,0.12,0.19,,,1.000(P),,0.0000(T),.,0.526097,6.04,2.07,-0.466000,1.087000,0.317000,0.684000,0.051000,0.036000,6.1375
synonymous_variant,PLEKHS1,SILENT,NM_001193434.1:p.Ala324Ala/c.972T>C,gcT/gcC,LOW,COSM3751540(1),0.355831,0.4187,rs11196483,,,,,,chr10,115540411,115540411,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala324Ala/c.972T>C|366|PLEKHS1|protein_coding|CODING|NM_001193434.1|13|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala324Ala/c.972T>C|366|PLEKHS1|protein_coding|CODING|NM_001193435.1|11|1),3_prime_UTR_variant(MODIFIER||50|c.*50T>C|363|PLEKHS1|protein_coding|CODING|NM_024889.4|12|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:CTCF",,,,0.4213,0.2968,0.3926,0.36,0.29,0.39,,,,,,,,,,,,,,,,
missense_variant,DCLRE1A,MISSENSE,NM_001271816.1:p.Asp317His/c.949G>C,Gat/Cat,MODERATE,,0.657748,0.8185,rs3750898,0.07(T),0.72(P),1.79(L),-1.0031(T),,chr10,115609915,115609915,C,G,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp317His/c.949G>C|1040|DCLRE1A|protein_coding|CODING|NM_001271816.1|3|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp317His/c.949G>C|1040|DCLRE1A|protein_coding|CODING|NM_014881.4|2|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7106,0.817,0.7942,0.64,0.38,0.77,,0.655643(N),0.936(P),"-0.29,-0.29(T,T)",0.0000(T),0.078,3.704827,6.02,4.13,0.650000,1.517000,0.905000,0.710000,0.996000,0.100000,10.1303
synonymous_variant,NHLRC2,SILENT,NM_198514.3:p.Leu37Leu/c.109C>T,Ctg/Ttg,LOW,,0.0125799,0,rs17235038,,,,,,chr10,115614740,115614740,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu37Leu/c.109C>T|726|NHLRC2|protein_coding|CODING|NM_198514.3|1|1),upstream_gene_variant(MODIFIER||765||1040|DCLRE1A|protein_coding|CODING|NM_014881.4||1),upstream_gene_variant(MODIFIER||577||1040|DCLRE1A|protein_coding|CODING|NM_001271816.1||1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.0061,0.0331,0.0308,0.02,0.01,0.02,,,,,,,,,,,,,,,,
missense_variant,ADRB1,MISSENSE,NM_000684.2:p.Gly389Arg/c.1165G>C,Gga/Cga,MODERATE,COSM3751541(4),0.701677,0.7877,rs1801253,1(T),,,-0.9591(T),,chr10,115805056,115805056,G,C,hom,missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly389Arg/c.1165G>C|477|ADRB1|protein_coding|CODING|NM_000684.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",Birth_weight,RCV000019322.1,,0.7342,0.8055,0.6849,0.70,0.63,0.74,,0.000000(N),1.000(P),1.43(T),0.0000(T),0.072,-2.004737,3.81,1.68,-0.335000,0.214000,1.478000,0.292000,0.998000,1.000000,6.9998
missense_variant,CCDC186,MISSENSE,NM_018017.2:p.Gln271Lys/c.811C>A,Caa/Aaa,MODERATE,COSM3751542(2),0.207268,0.0585,rs7095762,1(T),0.0(B),-0.49(N),-0.9724(T),,chr10,115910928,115910928,G,T,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln271Lys/c.811C>A|898|CCDC186|protein_coding|CODING|NM_018017.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.2349,0.2505,0.26,0.32,0.23,,0.000001(N),0.000(P),1.3(T),0.0000(T),0.012,-0.700333,5.94,4.8,-0.270000,0.496000,4.641000,0.247000,0.984000,1.000000,11.9902
missense_variant,CCDC186,MISSENSE,NM_018017.2:p.Thr85Ile/c.254C>T,aCa/aTa,MODERATE,COSM3751543(1),0.207268,0.0585,rs1061159,0.43(T),0.0(B),0.55(N),-1.0235(T),,chr10,115922774,115922774,G,A,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr85Ile/c.254C>T|898|CCDC186|protein_coding|CODING|NM_018017.2|2|1),"HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.2349,0.2505,0.26,0.32,0.24,,0.481642(N),1.000(P),"1.87,1.44,1.44(T,T,T)",0.0000(T),0.017,-1.196215,5.65,-9.53,-1.781000,-1.547000,-0.821000,0.029000,0.051000,0.000000,19.1548
missense_variant,VWA2,MISSENSE,NM_001272046.1:p.Ala9Thr/c.25G>A,Gcc/Acc,MODERATE,COSM3751545(1),0.203275,0.0605,rs9664945,0.55(T),"0.002,0.005(B,B)",1.445(L),-1.0399(T),,chr10,116008497,116008497,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala9Thr/c.25G>A|755|VWA2|protein_coding|CODING|NM_001272046.1|2|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1063,0.2176,0.2515,0.26,0.31,0.24,,0.575165(N),1.000(P),-0.39(T),0.0000(T),0.09,-0.047993,4.98,3.07,-1.014000,0.600000,0.762000,0.270000,0.350000,0.252000,7.1349
missense_variant,VWA2,MISSENSE,NM_001272046.1:p.Glu131Gly/c.392A>G,gAa/gGa,MODERATE,COSM3737630(1),0.557109,0.3373,rs597371,1(T),"0.0,0.0(B,B)",-4.035(N),-0.9028(T),,chr10,116032519,116032519,A,G,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu131Gly/c.392A>G|755|VWA2|protein_coding|CODING|NM_001272046.1|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3",,,,0.5368,0.4741,0.4324,0.56,0.80,0.43,,0.000030(N),0.971(P),-1.33(T),0.0000(T),0.11,-0.689115,5.2,4.28,-0.119000,0.556000,5.047000,0.223000,0.454000,1.000000,9.0543
missense_variant,VWA2,MISSENSE,NM_001272046.1:p.Gln711Arg/c.2132A>G,cAg/cGg,MODERATE,,0.141573,0.2857,rs11196686,0.69(T),0.0(B),,-1.0194(T),,chr10,116050008,116050008,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln711Arg/c.2132A>G|755|VWA2|protein_coding|CODING|NM_001272046.1|13|1),"HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1922,0.0591,0.0775,,,,,0.010623(N),0.000(P),-0.3(T),0.0000(T),0.04,-0.009318,5.65,1.68,-0.128000,0.329000,-0.316000,0.958000,0.998000,0.149000,5.5111
synonymous_variant,AFAP1L2,SILENT,NM_001287824.1:p.Arg588Arg/c.1764A>G,cgA/cgG,LOW,COSM4144354(1),0.641573,0.7054,rs2286396,,,,,,chr10,116060387,116060387,T,C,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg535Arg/c.1605A>G|818|AFAP1L2|protein_coding|CODING|NM_001001936.2|14|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg588Arg/c.1764A>G|871|AFAP1L2|protein_coding|CODING|NM_001287824.1|15|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg535Arg/c.1605A>G|814|AFAP1L2|protein_coding|CODING|NM_032550.3|14|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7035,0.8372,0.831,0.68,0.38,0.84,,,,,,,,,,,,,,,,
synonymous_variant,AFAP1L2,SILENT,NM_001287824.1:p.Thr295Thr/c.885G>A,acG/acA,LOW,COSM4144360(1),0.584864,0.8929,rs3813722,,,,,,chr10,116073696,116073696,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr242Thr/c.726G>A|818|AFAP1L2|protein_coding|CODING|NM_001001936.2|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr295Thr/c.885G>A|871|AFAP1L2|protein_coding|CODING|NM_001287824.1|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr242Thr/c.726G>A|814|AFAP1L2|protein_coding|CODING|NM_032550.3|7|1)","HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5961,0.8084,0.7614,0.58,0.19,0.78,,,,,,,,,,,,,,,,
splice_donor_variant,AFAP1L2,protein_coding,NM_001287824.1:c.475C>T,,HIGH,,0.0285543,0,rs75926928,,,,,AFAP1L2:0.33(3);,chr10,116085639,116085639,G,A,het,"splice_donor_variant(HIGH|||c.475C>T|871|AFAP1L2|protein_coding|CODING|NM_001287824.1|5|1),intron_variant(MODIFIER|||c.474+2C>T|871|AFAP1L2|protein_coding|CODING|NM_001287824.1|5|1),intron_variant(MODIFIER|||c.316-2619C>T|818|AFAP1L2|protein_coding|CODING|NM_001001936.2|4|1),intron_variant(MODIFIER|||c.316-2619C>T|814|AFAP1L2|protein_coding|CODING|NM_032550.3|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0092,0.062,0.0765,,,,,,1.000(P),,,.,-1.122649,2.34,-4.68,-0.478000,-2.793000,-0.771000,0.000000,0.000000,0.000000,2.2877
synonymous_variant,ABLIM1,SILENT,NM_002313.5:p.Asn235Asn/c.705T>C,aaT/aaC,LOW,,0.783147,0.6706,rs2247528,,,,-1.0142(T),,chr10,116307504,116307504,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn175Asn/c.525T>C|718|ABLIM1|protein_coding|CODING|NM_001003407.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn175Asn/c.525T>C|746|ABLIM1|protein_coding|CODING|NM_001003408.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn235Asn/c.705T>C|778|ABLIM1|protein_coding|CODING|NM_002313.5|5|1)","NH-A:H3K27me3,IMR90:H3K27me3",,,,0.7382,0.745,0.7356,0.79,0.92,0.73,,,0.000(P),,0.0000(T),.,1.349333,5.66,-3.56,-0.408000,-0.497000,-0.189000,0.962000,0.979000,0.280000,8.9444
synonymous_variant,FAM160B1,SILENT,NM_020940.3:p.Phe631Phe/c.1893T>C,ttT/ttC,LOW,,0.254593,0.0357,rs3180654,,,,,,chr10,116615045,116615045,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe631Phe/c.1893T>C|738|FAM160B1|protein_coding|CODING|NM_001135051.1|14|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe631Phe/c.1893T>C|765|FAM160B1|protein_coding|CODING|NM_020940.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4202,0.2032,0.3777,0.34,0.26,0.39,,,,,,,,,,,,,,,,
synonymous_variant,ATRNL1,SILENT,NM_207303.4:p.Lys61Lys/c.183G>A,aaG/aaA,LOW,,0.00878594,0,rs74561952,,,,,,chr10,116853692,116853692,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys61Lys/c.183G>A|466|ATRNL1|protein_coding|CODING|NM_001276282.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys61Lys/c.183G>A|1379|ATRNL1|protein_coding|CODING|NM_207303.4|1|1),intron_variant(MODIFIER|||n.272+297G>A||ATRNL1||CODING|NR_074088.2|1|1)","NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,H1ESC:CTCF",,,,0.0123,0.0173,0.0189,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,ATRNL1,MISSENSE,NM_207303.4:p.Ser989Asn/c.2966G>A,aGt/aAt,MODERATE,,0.96905,0.999,rs1953758,0.57(T),"0.0,0.001(B,B)",0.2(N),-0.9909(T),,chr10,117075175,117075175,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser989Asn/c.2966G>A|1379|ATRNL1|protein_coding|CODING|NM_207303.4|18|1),,,,,0.9632,0.9798,0.9722,0.96,0.96,0.97,,0.197962(N),1.000(P),"2.51,1.88(T,T)",0.0000(T),0.065,-0.475901,4.91,-2.54,-0.556000,-0.718000,-0.617000,0.846000,0.051000,0.000000,11.4752
synonymous_variant,ATRNL1,SILENT,NM_207303.4:p.Thr1203Thr/c.3609A>G,acA/acG,LOW,,0.344449,0.1677,rs10885721,,,,,,chr10,117228794,117228794,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1203Thr/c.3609A>G|1379|ATRNL1|protein_coding|CODING|NM_207303.4|24|1),,,,,0.3589,0.4654,0.4911,0.46,0.35,0.51,,,,,,,,,,,,,,,,
synonymous_variant,ATRNL1,SILENT,NM_207303.4:p.Leu1267Leu/c.3801G>T,ctG/ctT,LOW,COSM3751551(1),0.201078,0.0387,rs2254619,,,,,,chr10,117486763,117486763,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu1267Leu/c.3801G>T|1379|ATRNL1|protein_coding|CODING|NM_207303.4|27|1),,,,,0.2434,0.2565,0.4195,0.32,0.14,0.41,,,,,,,,,,,,,,,,
synonymous_variant,GFRA1,SILENT,NM_005264.4:p.Asn184Asn/c.552C>T,aaC/aaT,LOW,COSM147055(1),0.485024,0.5546,rs2245020,,,,,,chr10,117884950,117884950,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn179Asn/c.537C>T|460|GFRA1|protein_coding|CODING|NM_001145453.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn184Asn/c.552C>T|465|GFRA1|protein_coding|CODING|NM_005264.4|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn179Asn/c.537C>T|460|GFRA1|protein_coding|CODING|NM_145793.3|4|1)","H1ESC:H3K27me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.5583,0.6455,0.5467,0.48,0.32,0.57,,,,,,,,,,,,,,,,
missense_variant,PNLIPRP3,MISSENSE,NM_001011709.2:p.Val381Ile/c.1141G>A,Gtt/Att,MODERATE,,0.964058,1,rs10736251,0.18(T),0.0(B),-1.1(N),-0.9478(T),,chr10,118231360,118231360,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val381Ile/c.1141G>A|467|PNLIPRP3|protein_coding|CODING|NM_001011709.2|10|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,1,0.9899,1,0.96,0.89,1.00,,0.223884(N),1.000(P),-0.09(T),0.0000(T),0.013,1.164824,4.18,-7.38,-1.460000,-2.252000,-0.311000,0.002000,0.000000,0.000000,10.3058
missense_variant,PNLIPRP3,MISSENSE,NM_001011709.2:p.Arg382Gly/c.1144A>G,Agg/Ggg,MODERATE,,0.96845,1,rs1897519,1(T),0.0(B),-2.525(N),-0.9652(T),,chr10,118231363,118231363,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg382Gly/c.1144A>G|467|PNLIPRP3|protein_coding|CODING|NM_001011709.2|10|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,1,0.9914,1,0.96,0.89,1.00,,0.062759(N),1.000(P),0.59(T),0.0000(T),0.022,-0.700475,4.18,4.18,-0.186000,1.084000,0.528000,0.009000,0.002000,0.001000,9.9547
synonymous_variant,PNLIP,SILENT,NM_000936.2:p.Asn162Asn/c.486T>C,aaT/aaC,LOW,,0.842652,0.6667,rs2915748,,,,,,chr10,118313265,118313265,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn162Asn/c.486T>C|465|PNLIP|protein_coding|CODING|NM_000936.2|6|1),,,,,0.9202,0.8444,0.9225,0.90,0.87,0.92,,,,,,,,,,,,,,,,
synonymous_variant,PNLIPRP1,SILENT,NM_006229.2:p.Ser388Ser/c.1164T>C,agT/agC,LOW,,0.70627,0.8988,rs3010501,,,,,,chr10,118363642,118363642,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser388Ser/c.1164T>C|467|PNLIPRP1|protein_coding|CODING|NM_006229.2|11|1),,,,,0.7117,0.7637,0.6918,0.66,0.57,0.71,,,,,,,,,,,,,,,,
stop_lost,PNLIPRP2,MISSENSE,NM_005396.4:p.Ter159Trpext*?/c.476A>G,tAg/tGg,HIGH,COSM427117(1),0.36222,0.5784,rs11544712,,,,,,chr10,118387282,118387282,A,G,het,"stop_lost(HIGH|MISSENSE|tAg/tGg|p.Ter159Trpext*?/c.476A>G|469|PNLIPRP2|protein_coding|CODING|NM_005396.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.499A>G||PNLIPRP2||CODING|NR_103727.1|6|1)","NHEK:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,0.2924,0.4193,0.338,0.28,0.24,0.30,,,,,,,,,,,,,,,,
missense_variant,PNLIPRP2,MISSENSE,NM_005396.4:p.Glu358Gly/c.1073A>G,gAa/gGa,MODERATE,COSM1128129(1),0.478435,0.2708,rs4751995,,,,,,chr10,118397884,118397884,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu358Gly/c.1073A>G|469|PNLIPRP2|protein_coding|CODING|NM_005396.4|11|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.1096A>G||PNLIPRP2||CODING|NR_103727.1|11|1)",,,,,0.4376,0.4568,0.5358,0.55,0.63,0.52,,,,,,,,,,,,,,,,
synonymous_variant,PNLIPRP2,SILENT,NM_005396.4:p.Arg361Arg/c.1083A>G,agA/agG,LOW,COSM1128127(1),0.478435,0.2708,rs4751996,1(T),,,-0.9391(T),,chr10,118397894,118397894,A,G,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg361Arg/c.1083A>G|469|PNLIPRP2|protein_coding|CODING|NM_005396.4|11|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.1106A>G||PNLIPRP2||CODING|NR_103727.1|11|1)",,,,,0.4376,0.4568,0.5358,0.55,0.63,0.52,,0.027477(N),1.000(P),0.3(T),0.0000(T),0.1,-1.917123,5.48,2.61,-0.722000,0.393000,1.169000,0.795000,0.003000,0.958000,8.7273
synonymous_variant,ENO4,SILENT,NM_001242699.1:p.Leu263Leu/c.789A>C,ctA/ctC,LOW,COSM3751552(1),0.239617,0.0972,rs11197835,,,,,,chr10,118620459,118620459,A,C,het,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu263Leu/c.789A>C|625|ENO4|protein_coding|CODING|NM_001242699.1|5|1),NHEK:H3K27me3,,,,0.2853,0.3386,0.502,,,,,,,,,,,,,,,,,,,
missense_variant,KCNK18,MISSENSE,NM_181840.1:p.Arg10Gly/c.28A>G,Agg/Ggg,MODERATE,,0.0886581,0.1627,rs67346047,0.25(T),0.006(B),0.805(L),-1.0063(T),,chr10,118957027,118957027,A,G,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg10Gly/c.28A>G|384|KCNK18|protein_coding|CODING|NM_181840.1|1|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1288,0.1398,0.0537,0.05,0.01,0.07,,0.173873(N),1.000(P),2.45(T),0.0002(T),0.037,-0.381730,4.17,-5.42,-1.320000,-1.060000,-1.206000,0.202000,0.000000,0.000000,1.5064
synonymous_variant,PDZD8,SILENT,NM_173791.3:p.Ser257Ser/c.771C>G,tcC/tcG,LOW,COSM3747137(1),0.309105,0.4415,rs3814230,,,,,,chr10,119133968,119133968,G,C,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser257Ser/c.771C>G|1154|PDZD8|protein_coding|CODING|NM_173791.3|1|1),"CD4:H3K9me1,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.2924,0.2392,0.1501,0.22,0.34,0.15,,,,,,,,,,,,,,,,
synonymous_variant,PDZD8,SILENT,NM_173791.3:p.Gly227Gly/c.681A>G,ggA/ggG,LOW,COSM3747138(2),0.309305,0.4415,rs3814229,,,,,,chr10,119134058,119134058,T,C,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly227Gly/c.681A>G|1154|PDZD8|protein_coding|CODING|NM_173791.3|1|1),"CD4:H3K9me1,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.2924,0.2392,0.1511,0.21,0.33,0.15,,,,,,,,,,,,,,,,
synonymous_variant,RAB11FIP2,SILENT,NM_014904.2:p.Pro499Pro/c.1497G>A,ccG/ccA,LOW,,0.78754,0.5794,rs7923321,,,,,,chr10,119768551,119768551,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro499Pro/c.1497G>A|512|RAB11FIP2|protein_coding|CODING|NM_014904.2|5|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8793,0.879,0.9602,0.89,0.73,0.96,,,,,,,,,,,,,,,,
missense_variant,PRLHR,MISSENSE,NM_004248.2:p.Ile283Val/c.847A>G,Atc/Gtc,MODERATE,COSM3749082(7),0.978035,1,rs1613448,1(T),0.0(B),-1.63(N),-0.9445(T),,chr10,120353910,120353910,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile283Val/c.847A>G|370|PRLHR|protein_coding|CODING|NM_004248.2|2|1),"NHEK:CTCF,H1ESC:USF1,HUVEC:H3K27me3,HepG2:Nrsf,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,HeLa-S3:CTCF,HUVEC:Cmyc,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,H1ESC:Nrsf,GM12878:Nrsf,H1ESC:Rad21,H1ESC:CTCF",,,,1,0.987,0.999,0.98,0.94,1.00,,0.000029(N),1.000(P),"1.08,1.08(T,T)",0.0000(T),0.114,-0.568173,4.38,4.38,-0.215000,1.065000,3.866000,0.602000,0.951000,0.998000,12.5644
synonymous_variant,EIF3A,SILENT,NM_003750.2:p.Asp313Asp/c.939T>C,gaT/gaC,LOW,,0.790535,0.8829,rs7908387,,,,,,chr10,120828969,120828969,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp313Asp/c.939T>C|1382|EIF3A|protein_coding|CODING|NM_003750.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.955,0.9193,0.9692,0.82,0.51,0.97,,,,,,,,,,,,,,,,
synonymous_variant,FAM45A,SILENT,NM_207009.2:p.Pro314Pro/c.942G>A,ccG/ccA,LOW,,0.902356,0.9534,rs11198799,,,,,,chr10,120896027,120896027,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro314Pro/c.942G>A|357|FAM45A|protein_coding|CODING|NM_207009.2|9|1),non_coding_exon_variant(MODIFIER|||n.968G>A||FAM45B||NON_CODING|NR_027141.2.2|9|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9908,0.9236,0.9911,,,,,,,,,,,,,,,,,,,
synonymous_variant,SFXN4,SILENT,NM_213649.1:p.Ala118Ala/c.354A>G,gcA/gcG,LOW,,0.983027,1,rs2181118,,,,,,chr10,120919246,120919246,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala118Ala/c.354A>G|337|SFXN4|protein_coding|CODING|NM_213649.1|6|1),non_coding_exon_variant(MODIFIER|||n.372A>G||SFXN4||CODING|NR_110305.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SFXN4,SILENT,NM_213649.1:p.Gln86Gln/c.258A>G,caA/caG,LOW,,0.494409,0.7163,rs10749291,,,,,,chr10,120920588,120920588,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln86Gln/c.258A>G|337|SFXN4|protein_coding|CODING|NM_213649.1|4|1),intron_variant(MODIFIER|||n.298-107A>G||SFXN4||CODING|NR_110305.1|3|1)","GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4366,0.4496,0.4374,0.47,0.43,0.48,,,,,,,,,,,,,,,,
synonymous_variant,PRDX3,SILENT,NM_006793.3:p.Asp124Asp/c.372C>T,gaC/gaT,LOW,,0.953275,0.9127,rs3758609,,,,,,chr10,120933324,120933324,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp124Asp/c.372C>T|256|PRDX3|protein_coding|CODING|NM_006793.3|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp106Asp/c.318C>T|238|PRDX3|protein_coding|CODING|NM_014098.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9847,0.9337,0.997,0.98,0.94,0.99,,,,,,,,,,,,,,,,
missense_variant,GRK5,MISSENSE,NM_005308.2:p.Arg304His/c.911G>A,cGt/cAt,MODERATE,,0.125799,0.2827,rs2230349,0.04(D),"0.01,0.01(B,B)",1.345(L),-1.0096(T),,chr10,121196335,121196335,G,A,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg304His/c.911G>A|590|GRK5|protein_coding|CODING|NM_005308.2|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2045,0.0951,0.0755,0.07,0.02,0.10,,0.006278(N),0.000(P),"1.81,1.81(T,T)",0.0000(T),0.089,4.170418,5.43,3.52,0.563000,0.606000,3.386000,0.987000,0.873000,0.996000,9.713
synonymous_variant,BAG3,SILENT,NM_004281.3:p.Val432Val/c.1296A>G,gtA/gtG,LOW,,0.70647,0.4881,rs196295,,,,,,chr10,121436362,121436362,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val432Val/c.1296A>G|575|BAG3|protein_coding|CODING|NM_004281.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000037886.2|RCV000123817.1,,0.7597,0.7219,0.8012,0.77,0.75,0.78,,,,,,,,,,,,,,,,
missense_variant,SEC23IP,MISSENSE,NM_007190.3:p.Lys644Glu/c.1930A>G,Aaa/Gaa,MODERATE,,0.751398,0.8363,rs2475298,1(T),"0.0,0.001(B,B)",-1.59(N),-0.9660(T),,chr10,121679013,121679013,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys644Glu/c.1930A>G|1000|SEC23IP|protein_coding|CODING|NM_007190.3|11|1),non_coding_exon_variant(MODIFIER|||n.1607A>G||SEC23IP||CODING|NR_037771.1|10|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7239,0.7248,0.671,0.71,0.78,0.67,,0.000064(N),1.000(P),"1.0,1.0(T,T)",0.0000(T),0.079,-0.502512,5.15,5.15,-0.349000,1.326000,3.883000,0.511000,1.000000,1.000000,10.432
synonymous_variant,PPAPDC1A,SILENT,NM_001030059.1:p.Phe15Phe/c.45C>T,ttC/ttT,LOW,COSM427150(6),0.195887,0.2986,rs67319648,,,,,,chr10,122216862,122216862,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe15Phe/c.45C>T|271|PPAPDC1A|protein_coding|CODING|NM_001030059.1|1|1),"GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,NHEK:H3K27me3,HUVEC:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.1452,0.1916,0.1918,0.16,0.15,0.17,,,,,,,,,,,,,,,,
synonymous_variant,WDR11,SILENT,NM_018117.11:p.Ala768Ala/c.2304A>G,gcA/gcG,LOW,COSM147068(1),0.197085,0.0962,rs2289337,,,,,,chr10,122649482,122649482,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala768Ala/c.2304A>G|1224|WDR11|protein_coding|CODING|NM_018117.11|18|1),intron_variant(MODIFIER|||n.33+20056A>G||MIR5694||NON_CODING|NR_049879.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2188,0.1628,0.2207,0.24,0.28,0.22,,,,,,,,,,,,,,,,
synonymous_variant,WDR11,SILENT,NM_018117.11:p.Leu986Leu/c.2958G>A,ctG/ctA,LOW,COSM3751573(2),0.676518,0.5179,rs1652727,,,,,,chr10,122663585,122663585,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu986Leu/c.2958G>A|1224|WDR11|protein_coding|CODING|NM_018117.11|24|1),intron_variant(MODIFIER|||n.33+34159G>A||MIR5694||NON_CODING|NR_049879.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.6657,0.6511,0.72,0.86,0.65,,,,,,,,,,,,,,,,
synonymous_variant,FGFR2,SILENT,NM_001144915.1:p.Leu703Leu/c.2107C>T,Ctg/Ttg,LOW,COSM147070(1),0.414337,0.3512,rs1047057,,,,,,chr10,123239112,123239112,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu703Leu/c.2107C>T|707|FGFR2|protein_coding|CODING|NM_001144915.1|17|1),3_prime_UTR_variant(MODIFIER||259|c.*259C>T|821|FGFR2|protein_coding|CODING|NM_000141.4|18|1),3_prime_UTR_variant(MODIFIER||259|c.*259C>T|709|FGFR2|protein_coding|CODING|NM_001144914.1|15|1),3_prime_UTR_variant(MODIFIER||259|c.*259C>T|706|FGFR2|protein_coding|CODING|NM_001144916.1|15|1),3_prime_UTR_variant(MODIFIER||259|c.*259C>T|705|FGFR2|protein_coding|CODING|NM_001144917.1|16|1),3_prime_UTR_variant(MODIFIER||259|c.*259C>T|704|FGFR2|protein_coding|CODING|NM_001144918.1|16|1),3_prime_UTR_variant(MODIFIER||259|c.*259C>T|822|FGFR2|protein_coding|CODING|NM_022970.3|18|1),3_prime_UTR_variant(MODIFIER||259|c.*259C>T|732|FGFR2|protein_coding|CODING|NM_023029.2|16|1),non_coding_exon_variant(MODIFIER|||n.3175C>T||FGFR2||CODING|NR_073009.1|17|1)","H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3",,,,0.6207,0.6873,0.5099,0.43,0.17,0.55,,,,,,,,,,,,,,,,
synonymous_variant,FGFR2,SILENT,NM_022970.3:p.Val232Val/c.696A>G,gtA/gtG,LOW,,0.795327,0.9355,rs1047100,,,,,,chr10,123298158,123298158,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val232Val/c.696A>G|821|FGFR2|protein_coding|CODING|NM_000141.4|6|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val232Val/c.696A>G|769|FGFR2|protein_coding|CODING|NM_001144913.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val232Val/c.696A>G|709|FGFR2|protein_coding|CODING|NM_001144914.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val143Val/c.429A>G|707|FGFR2|protein_coding|CODING|NM_001144915.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val117Val/c.351A>G|706|FGFR2|protein_coding|CODING|NM_001144916.1|3|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val232Val/c.696A>G|705|FGFR2|protein_coding|CODING|NM_001144917.1|6|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val117Val/c.351A>G|704|FGFR2|protein_coding|CODING|NM_001144918.1|4|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val143Val/c.429A>G|680|FGFR2|protein_coding|CODING|NM_001144919.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val232Val/c.696A>G|822|FGFR2|protein_coding|CODING|NM_022970.3|6|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val143Val/c.429A>G|732|FGFR2|protein_coding|CODING|NM_023029.2|4|1),non_coding_exon_variant(MODIFIER|||n.998A>G||FGFR2||CODING|NR_073009.1|4|1)","H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3",,,,0.7382,0.7997,0.7903,0.77,0.75,0.78,,,,,,,,,,,,,,,,
synonymous_variant,ATE1,SILENT,NM_001001976.2:p.Ser412Ser/c.1236A>G,tcA/tcG,LOW,,0.889177,0.9256,rs4237536,,,,-1.0243(T),,chr10,123596254,123596254,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser412Ser/c.1236A>G|518|ATE1|protein_coding|CODING|NM_001001976.2|10|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser297Ser/c.891A>G|403|ATE1|protein_coding|CODING|NM_001288734.1|9|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser316Ser/c.948A>G|422|ATE1|protein_coding|CODING|NM_001288735.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser405Ser/c.1215A>G|511|ATE1|protein_coding|CODING|NM_001288736.1|10|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser412Ser/c.1236A>G|518|ATE1|protein_coding|CODING|NM_007041.3|10|1),non_coding_exon_variant(MODIFIER|||n.1292A>G||ATE1||CODING|NR_110006.1|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8988,0.7867,0.9225,0.91,0.87,0.93,,,0.000(P),,0.0000(T),.,0.867986,5.66,-6.52,-1.653000,-1.150000,-1.608000,0.925000,0.906000,0.003000,2.5176
synonymous_variant,ATE1,SILENT,NM_001001976.2:p.Leu101Leu/c.303A>G,ctA/ctG,LOW,,0.899161,0.9286,rs10749435,,,,-1.0406(T),,chr10,123673339,123673339,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu101Leu/c.303A>G|518|ATE1|protein_coding|CODING|NM_001001976.2|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu5Leu/c.15A>G|422|ATE1|protein_coding|CODING|NM_001288735.1|2|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu94Leu/c.282A>G|511|ATE1|protein_coding|CODING|NM_001288736.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu101Leu/c.303A>G|518|ATE1|protein_coding|CODING|NM_007041.3|4|1),intron_variant(MODIFIER|||c.-8-2673A>G|403|ATE1|protein_coding|CODING|NM_001288734.1|3|1),non_coding_exon_variant(MODIFIER|||n.589A>G||ATE1||CODING|NR_110006.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9213,0.7839,0.9245,0.92,0.89,0.93,,,0.000(P),,0.0000(T),.,1.068345,5.62,2.56,-0.825000,0.415000,0.371000,0.918000,0.998000,0.233000,1.9807
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Val170Ile/c.508G>A,Gtc/Atc,MODERATE,,0.205272,0.0992,rs11200385,0.67(T),"0.001,0.001,0.001(B,B,B)",0.145(N),-0.9211(T),,chr10,123842523,123842523,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val170Ile/c.508G>A|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val170Ile/c.508G>A|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val170Ile/c.508G>A|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+32458G>A|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.18,0.1902,0.2087,0.26,0.34,0.22,,0.887732(N),1.000(P),"3.87,3.8,3.8,3.87,3.8(T,T,T,T,T)",0.0000(T),0.028,-0.504694,5.07,-0.534,-1.266000,-0.347000,-0.846000,0.000000,0.000000,0.000000,5.5726
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Gln247Pro/c.740A>C,cAa/cCa,MODERATE,,0.000998403,0,rs151218566,0.17(T),"0.003,0.003,0.003(B,B,B)",0.55(N),-0.9427(T),,chr10,123842755,123842755,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln247Pro/c.740A>C|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln247Pro/c.740A>C|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln247Pro/c.740A>C|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+32690A>C|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0,0.0014,0.004,0.00,0.00,0.00,,,1.000(N),"3.79,3.77,3.76,3.79,3.77(T,T,T,T,T)",0.0076(T),0.16,0.827229,4.13,2.96,0.454000,0.443000,1.078000,0.027000,0.005000,0.044000,8.4152
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Leu830Phe/c.2488C>T,Ctc/Ttc,MODERATE,,0.184105,0.0982,rs10887063,0.11(T),"0.286,0.286,0.286(B,B,B)",1.04(L),-0.8229(T),,chr10,123844503,123844503,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu830Phe/c.2488C>T|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu830Phe/c.2488C>T|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu830Phe/c.2488C>T|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+34438C>T|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K4me1,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.1431,0.17,0.1829,0.23,0.31,0.19,,0.089522(N),1.000(P),"3.62,3.52,3.56,3.62,3.52(T,T,T,T,T)",0.0000(T),0.121,2.561552,5.66,4.57,0.549000,2.660000,0.982000,0.034000,0.008000,0.001000,12.3263
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Ala1066Thr/c.3196G>A,Gcc/Acc,MODERATE,,0.138578,0.0913,rs11200387,0.62(T),"0.092,0.092,0.092(B,B,B)",0.255(N),-0.9197(T),,chr10,123845211,123845211,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1066Thr/c.3196G>A|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1066Thr/c.3196G>A|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1066Thr/c.3196G>A|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+35146G>A|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,0.0736,0.1499,0.17,0.19,0.23,0.17,,0.276983(N),1.000(P),"4.06,4.01,4.0,4.06,4.01(T,T,T,T,T)",0.0000(T),0.044,1.528723,5.37,2.46,0.478000,0.240000,0.705000,0.048000,0.005000,0.001000,5.8983
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Trp1103Arg/c.3307T>C,Tgg/Cgg,MODERATE,,0.988219,1,rs7073433,0.16(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-0.9236(T),,chr10,123845322,123845322,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1103Arg/c.3307T>C|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1103Arg/c.3307T>C|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1103Arg/c.3307T>C|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+35257T>C|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","NHEK:H3K27ac,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K4me1,HMEC:H3K4me2,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HMEC:DNase1,HMEC:H3K4me3,NHEK:DNase1",,,,1,0.9957,1,0.99,0.97,1.00,,0.576883(N),1.000(P),"4.25,4.24,4.22,4.25,4.24(T,T,T,T,T)",0.0000(T),0.064,0.964034,5.42,4.51,-0.231000,1.306000,0.433000,0.041000,0.013000,0.000000,7.604
synonymous_variant,TACC2,SILENT,NM_206862.3:p.Leu1294Leu/c.3882G>C,ctG/ctC,LOW,,0.204473,0.1022,rs1106992,,,,,,chr10,123845897,123845897,G,C,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu1294Leu/c.3882G>C|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu1294Leu/c.3882G>C|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu1294Leu/c.3882G>C|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+35832G>C|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K4me1,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.181,0.1916,0.2167,0.26,0.33,0.23,,,,,,,,,,,,,,,,
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Ala1425Thr/c.4273G>A,Gcc/Acc,MODERATE,COSM4144390(1),0.204673,0.1002,rs4752642,0.81(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-0.9496(T),,chr10,123846288,123846288,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1425Thr/c.4273G>A|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1425Thr/c.4273G>A|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1425Thr/c.4273G>A|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+36223G>A|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.181,0.1844,0.2117,0.26,0.34,0.22,,0.571365(N),1.000(P),"4.23,4.25,4.24,4.23,4.25(T,T,T,T,T)",0.0000(T),0.022,-0.418747,4.42,-1.87,-0.380000,-0.939000,0.072000,0.001000,0.000000,0.009000,11.5586
synonymous_variant,TACC2,SILENT,NM_206862.3:p.Gln1490Gln/c.4470A>G,caA/caG,LOW,,0.204872,0.1012,rs4751871,,,,,,chr10,123846485,123846485,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1490Gln/c.4470A>G|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln1490Gln/c.4470A>G|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln1490Gln/c.4470A>G|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+36420A>G|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.181,0.1844,0.2117,0.26,0.34,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TACC2,SILENT,NM_206862.3:p.Pro1615Pro/c.4845C>T,ccC/ccT,LOW,COSM1346385(1),0.198882,0.1002,rs11599291,,,,,,chr10,123846860,123846860,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1615Pro/c.4845C>T|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1615Pro/c.4845C>T|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1615Pro/c.4845C>T|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+36795C>T|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K4me1,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.181,0.1844,0.2107,0.26,0.32,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TACC2,SILENT,NM_206862.3:p.Gly1780Gly/c.5340G>A,ggG/ggA,LOW,COSM1346386(2),0.200679,0.1002,rs10788237,,,,,,chr10,123847355,123847355,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1780Gly/c.5340G>A|2826|TACC2|protein_coding|CODING|NM_001291876.1|4|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1780Gly/c.5340G>A|2875|TACC2|protein_coding|CODING|NM_001291877.1|4|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1780Gly/c.5340G>A|2948|TACC2|protein_coding|CODING|NM_206862.3|4|1),intron_variant(MODIFIER|||c.146+37290G>A|1094|TACC2|protein_coding|CODING|NM_206861.2|3|1)","GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K4me1,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.181,0.1844,0.2187,0.26,0.32,0.23,,,,,,,,,,,,,,,,
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Val2197Ala/c.6590T>C,gTg/gCg,MODERATE,COSM3997779(1),0.35024,0.3532,rs2295873,0.83(T),"0.001,0.0,0.0,0.0,0.0,0.001,0.0,0.001,0.0(B,B,B,B,B,B,B,B,B)",-0.915(N),-0.9882(T),,chr10,123970530,123970530,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val2152Ala/c.6455T>C|2826|TACC2|protein_coding|CODING|NM_001291876.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val2201Ala/c.6602T>C|2875|TACC2|protein_coding|CODING|NM_001291877.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val275Ala/c.824T>C|1008|TACC2|protein_coding|CODING|NM_001291878.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val275Ala/c.824T>C|1026|TACC2|protein_coding|CODING|NM_006997.3|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val275Ala/c.824T>C|996|TACC2|protein_coding|CODING|NM_206860.2|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val343Ala/c.1028T>C|1094|TACC2|protein_coding|CODING|NM_206861.2|6|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val2197Ala/c.6590T>C|2948|TACC2|protein_coding|CODING|NM_206862.3|9|1),5_prime_UTR_variant(MODIFIER||299|c.-299T>C|575|TACC2|protein_coding|CODING|NM_001291879.1|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1851,0.281,0.0875,0.29,0.62,0.12,,0.054834(N),1.000(P),"4.17,3.69,4.12,4.17,4.17,3.69,4.12,3.57,3.57,3.58,3.57,3.15,2.31(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.198,-1.256442,5.43,2.55,-0.726000,0.684000,0.572000,0.000000,0.000000,0.000000,10.3307
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Ala2210Val/c.6629C>T,gCa/gTa,MODERATE,COSM3930941(1),0.103634,0.1161,rs2295874,0.29(T),"0.006,0.052,0.002,0.077,0.052,0.004,0.004,0.006,0.077(B,B,B,B,B,B,B,B,B)",1.05(L),-1.0007(T),,chr10,123970569,123970569,C,T,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala2165Val/c.6494C>T|2826|TACC2|protein_coding|CODING|NM_001291876.1|8|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala2214Val/c.6641C>T|2875|TACC2|protein_coding|CODING|NM_001291877.1|8|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala288Val/c.863C>T|1008|TACC2|protein_coding|CODING|NM_001291878.1|3|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala288Val/c.863C>T|1026|TACC2|protein_coding|CODING|NM_006997.3|3|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala288Val/c.863C>T|996|TACC2|protein_coding|CODING|NM_206860.2|3|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala356Val/c.1067C>T|1094|TACC2|protein_coding|CODING|NM_206861.2|6|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala2210Val/c.6629C>T|2948|TACC2|protein_coding|CODING|NM_206862.3|9|1),5_prime_UTR_variant(MODIFIER||260|c.-260C>T|575|TACC2|protein_coding|CODING|NM_001291879.1|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1534,0.1354,0.0765,0.10,0.07,0.11,,0.570283(N),0.998(P),"4.08,3.66,4.11,4.16,4.08,3.66,4.11,3.55,3.63,3.63,3.55,3.15,2.24(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0003(T),0.263,-0.969967,5.54,2.66,0.655000,0.686000,1.792000,0.051000,0.001000,0.025000,6.2216
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Leu2261His/c.6782T>A,cTc/cAc,MODERATE,,0.0890575,0.1151,rs2295876,0.12(T),"0.927,0.983,0.885,0.988,0.983,0.893,0.893,0.893,0.988(D,D,P,D,D,P,P,P,D)",1.95(M),-1.0908(T),,chr10,123970722,123970722,T,A,het,"missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu2216His/c.6647T>A|2826|TACC2|protein_coding|CODING|NM_001291876.1|8|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu2265His/c.6794T>A|2875|TACC2|protein_coding|CODING|NM_001291877.1|8|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu339His/c.1016T>A|1008|TACC2|protein_coding|CODING|NM_001291878.1|3|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu339His/c.1016T>A|1026|TACC2|protein_coding|CODING|NM_006997.3|3|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu339His/c.1016T>A|996|TACC2|protein_coding|CODING|NM_206860.2|3|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu407His/c.1220T>A|1094|TACC2|protein_coding|CODING|NM_206861.2|6|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu2261His/c.6782T>A|2948|TACC2|protein_coding|CODING|NM_206862.3|9|1),5_prime_UTR_variant(MODIFIER||107|c.-107T>A|575|TACC2|protein_coding|CODING|NM_001291879.1|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1524,0.1311,0.0835,0.09,0.03,0.12,,0.009091(N),0.000(P),"4.05,3.65,4.09,4.09,4.05,3.65,4.09,3.53,3.54,3.53,3.54,3.12(T,T,T,T,T,T,T,T,T,T,T,T)",0.0007(T),0.406,2.024084,5.0,5.0,0.533000,2.016000,3.088000,0.504000,0.999000,0.827000,9.2912
missense_variant,TACC2,MISSENSE,NM_206862.3:p.Ser2909Thr/c.8726G>C,aGc/aCc,MODERATE,COSM427176(1),0.0269569,0,rs56075957,0.39(T),"0.997,0.989,0.998,0.998,0.989,0.908,0.882,0.956,0.998(D,D,D,D,D,P,P,D,D)",1.845(L),-1.0691(T),,chr10,124009124,124009124,G,C,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser2787Thr/c.8360G>C|2826|TACC2|protein_coding|CODING|NM_001291876.1|19|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser2836Thr/c.8507G>C|2875|TACC2|protein_coding|CODING|NM_001291877.1|19|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser969Thr/c.2906G>C|1008|TACC2|protein_coding|CODING|NM_001291878.1|16|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser536Thr/c.1607G>C|575|TACC2|protein_coding|CODING|NM_001291879.1|16|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser987Thr/c.2960G>C|1026|TACC2|protein_coding|CODING|NM_006997.3|16|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser957Thr/c.2870G>C|996|TACC2|protein_coding|CODING|NM_206860.2|15|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser1055Thr/c.3164G>C|1094|TACC2|protein_coding|CODING|NM_206861.2|19|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser2909Thr/c.8726G>C|2948|TACC2|protein_coding|CODING|NM_206862.3|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0491,0.0346,0.0616,0.05,0.01,0.07,,0.000513(D),1.000(D),"0.9,0.9,0.9,0.9,0.9,0.9,0.9,0.9,0.9,0.9,0.9,0.9,0.9(T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0266(T),0.467,4.476501,5.16,5.16,0.655000,2.573000,7.867000,0.970000,1.000000,1.000000,19.0249
synonymous_variant,PLEKHA1,SILENT,NM_001001974.2:p.Arg233Arg/c.699T>C,cgT/cgC,LOW,,0.940296,1,rs4405249,,,,,,chr10,124183732,124183732,T,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg233Arg/c.699T>C|404|PLEKHA1|protein_coding|CODING|NM_001001974.2|9|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg233Arg/c.699T>C|334|PLEKHA1|protein_coding|CODING|NM_001195608.1|10|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg233Arg/c.699T>C|404|PLEKHA1|protein_coding|CODING|NM_021622.4|9|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9622,0.9179,0.8181,0.88,0.96,0.84,,,,,,,,,,,,,,,,
missense_variant,PLEKHA1,MISSENSE,NM_001001974.2:p.Thr320Ala/c.958A>G,Acc/Gcc,MODERATE,COSM3751580(1),0.746805,0.8155,rs1045216,1(T),0.0(B),-0.55(N),-1.0054(T),,chr10,124189197,124189197,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr320Ala/c.958A>G|404|PLEKHA1|protein_coding|CODING|NM_001001974.2|12|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr320Ala/c.958A>G|404|PLEKHA1|protein_coding|CODING|NM_021622.4|12|1),3_prime_UTR_variant(MODIFIER||1301|c.*98A>G|334|PLEKHA1|protein_coding|CODING|NM_001195608.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7239,0.745,0.5895,0.67,0.79,0.60,,0.919389(N),0.000(P),"3.46,3.46(T,T)",0.0000(T),0.03,-0.580748,5.71,4.81,-0.128000,0.899000,1.192000,0.197000,0.134000,0.913000,6.7268
missense_variant,ARMS2,MISSENSE,NM_001099667.1:p.Arg3His/c.8G>A,cGc/cAc,MODERATE,COSM1346402(2),0.0750799,0.0119,rs10490923,0.52(T),0.0(B),0(N),-1.0081(T),,chr10,124214251,124214251,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg3His/c.8G>A|107|ARMS2|protein_coding|CODING|NM_001099667.1|1|1),HepG2:H3K27me3,,,,0.1483,0.0749,0.1302,0.10,0.04,0.13,,,1.000(P),1.04(T),0.0004(T),0.014,-0.304798,1.78,-0.729,-0.295000,-0.202000,-0.547000,0.008000,0.003000,0.000000,4.4187
missense_variant,DMBT1,MISSENSE,NM_007329.2:p.Pro42Thr/c.124C>A,Cca/Aca,MODERATE,,0.705671,0.7758,rs11523871,0.61(T),"0.013,0.018,0.0,0.025,0.003(B,B,B,B,B)",-0.345(N),-0.9731(T),,chr10,124329710,124329710,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro42Thr/c.124C>A|1785|DMBT1|protein_coding|CODING|NM_004406.2|3|1),missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro42Thr/c.124C>A|2413|DMBT1|protein_coding|CODING|NM_007329.2|3|1),missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro42Thr/c.124C>A|2403|DMBT1|protein_coding|CODING|NM_017579.2|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.729,0.7882,0.6789,0.67,0.64,0.69,,,1.000(P),"1.69,1.68,1.66,1.69,1.68,1.66,1.97(T,T,T,T,T,T,T)",0.0000(T),0.028,-1.600744,1.52,-3.03,-3.955000,-5.226000,-2.429000,0.000000,0.000000,0.000000,1.3833
missense_variant,DMBT1,MISSENSE,NM_007329.2:p.Ser54Leu/c.161C>T,tCg/tTg,MODERATE,COSM4165407(1),0.705272,0.7738,rs3013236,0.66(T),"0.008,0.032,0.0,0.008,0.002(B,B,B,B,B)",0.55(N),-0.9832(T),,chr10,124330427,124330427,C,T,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser54Leu/c.161C>T|1785|DMBT1|protein_coding|CODING|NM_004406.2|4|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser54Leu/c.161C>T|2413|DMBT1|protein_coding|CODING|NM_007329.2|4|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser54Leu/c.161C>T|2403|DMBT1|protein_coding|CODING|NM_017579.2|4|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.729,0.7882,0.6789,0.67,0.64,0.69,,,1.000(P),"1.96,1.95,1.84,1.96,1.95,1.84,1.85(T,T,T,T,T,T,T)",0.0000(T),0.046,1.079226,1.56,-3.13,-2.571000,-3.087000,-2.160000,0.000000,0.000000,0.000000,3.2284
synonymous_variant,DMBT1,SILENT,NM_007329.2:p.Thr75Thr/c.225C>T,acC/acT,LOW,,0.98742,1,rs7084792,,,,,,chr10,124331867,124331867,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr75Thr/c.225C>T|1785|DMBT1|protein_coding|CODING|NM_004406.2|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr75Thr/c.225C>T|2413|DMBT1|protein_coding|CODING|NM_007329.2|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr75Thr/c.225C>T|2403|DMBT1|protein_coding|CODING|NM_017579.2|5|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,1,0.9942,0.999,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,DMBT1,MISSENSE,NM_007329.2:p.Asp560Glu/c.1680C>G,gaC/gaG,MODERATE,,0.00599042,0,rs143892520,0.34(T),"0.115,0.115,0.184(B,B,B)",1.03(L),-0.9995(T),,chr10,124345796,124345796,C,G,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp560Glu/c.1680C>G|2413|DMBT1|protein_coding|CODING|NM_007329.2|16|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp550Glu/c.1650C>G|2403|DMBT1|protein_coding|CODING|NM_017579.2|15|1),intron_variant(MODIFIER|||c.1033+5385C>G|1785|DMBT1|protein_coding|CODING|NM_004406.2|11|1)","HSMM:H3K36me3,HSMM:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0092,0.0058,0.0169,0.01,0.00,0.02,,,1.000(D),"0.93,0.93,0.93,0.93(T,T,T,T)",0.0321(T),0.086,2.326283,4.5,-9.0,-0.680000,-2.782000,-5.882000,0.425000,0.000000,0.000000,10.9976
synonymous_variant,DMBT1,SILENT,NM_007329.2:p.Pro2335Pro/c.7005A>G,ccA/ccG,LOW,,0.64377,0.6687,rs1052715,,,,,,chr10,124402677,124402677,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1707Pro/c.5121A>G|1785|DMBT1|protein_coding|CODING|NM_004406.2|40|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro2335Pro/c.7005A>G|2413|DMBT1|protein_coding|CODING|NM_007329.2|53|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro2325Pro/c.6975A>G|2403|DMBT1|protein_coding|CODING|NM_017579.2|52|1)","HSMM:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6411,0.5029,0.4125,0.55,0.81,0.42,,,,,,,,,,,,,,,,
missense_variant,C10orf120,MISSENSE,NM_001010912.2:p.Ala269Thr/c.805G>A,Gca/Aca,MODERATE,,0.807708,0.8095,rs2947594,0.86(T),0.0(B),-0.92(N),-1.0129(T),,chr10,124457452,124457452,C,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala269Thr/c.805G>A|335|C10orf120|protein_coding|CODING|NM_001010912.2|3|1),,,,,0.8793,0.7291,0.7535,0.79,0.85,0.75,,0.847900(N),1.000(P),1.53(T),0.0000(T),0.019,-0.585199,4.57,-1.81,-1.087000,-0.795000,-0.758000,0.001000,0.000000,0.000000,6.5477
missense_variant,FAM24B,MISSENSE,NM_001204364.1:p.Pro2Leu/c.5C>T,cCt/cTt,MODERATE,COSM3751584(2),0.502396,0.4931,rs1891110,0.23(T),0.0(B),,-0.9259(T),,chr10,124610027,124610027,G,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro2Leu/c.5C>T|94|FAM24B|protein_coding|CODING|NM_001204364.1|3|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro2Leu/c.5C>T|94|FAM24B|protein_coding|CODING|NM_152644.2|3|1),intron_variant(MODIFIER|||n.300-4291C>T||FAM24B-CUZD1||NON_CODING|NR_037915.1|2|1),intron_variant(MODIFIER|||n.300-1072C>T||FAM24B||CODING|NR_037911.1|2|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,HUVEC:DNase1,HUVEC:Cmyc,HUVEC:H3K4me2,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.4898,0.4597,0.5785,0.54,0.52,0.55,,0.956308(U),1.000(P),"1.1,1.1(T,T)",0.0000(T),0.016,-1.238180,3.0,3.0,-0.516000,0.555000,1.235000,0.006000,0.001000,0.001000,5.0762
synonymous_variant,ACADSB,SILENT,NM_001609.3:p.His213His/c.639C>T,caC/caT,LOW,COSM3997809(3),0.227835,0.1419,rs1140591,,,,,,chr10,124800853,124800853,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His213His/c.639C>T|432|ACADSB|protein_coding|CODING|NM_001609.3|5|1),HepG2:H3K36me3,,,,0.3374,0.2176,0.2296,0.23,0.22,0.23,,,,,,,,,,,,,,,,
synonymous_variant,GPR26,SILENT,NM_153442.3:p.Pro163Pro/c.489A>G,ccA/ccG,LOW,COSM1346532(3),0.551917,0.38,rs12263344,,,,,,chr10,125426412,125426412,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro163Pro/c.489A>G|337|GPR26|protein_coding|CODING|NM_153442.3|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3",,,,0.544,0.5706,0.6322,0.64,0.64,0.64,,,,,,,,,,,,,,,,
synonymous_variant,GPR26,SILENT,NM_153442.3:p.Leu214Leu/c.642G>C,ctG/ctC,LOW,,0.998802,1,rs4980313,,,,,,chr10,125426565,125426565,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu214Leu/c.642G>C|337|GPR26|protein_coding|CODING|NM_153442.3|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CPXM2,MISSENSE,NM_198148.2:p.Gln750Arg/c.2249A>G,cAg/cGg,MODERATE,,0.986422,1,rs7088479,1(T),0.0(B),-1.265(N),-0.9200(T),,chr10,125506302,125506302,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln750Arg/c.2249A>G|756|CPXM2|protein_coding|CODING|NM_198148.2|14|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,0.998,0.98,0.95,1.00,,0.685429(N),1.000(P),-3.68(D),0.0000(T),0.067,-1.608875,5.24,4.34,-0.119000,0.810000,2.745000,0.142000,0.004000,0.975000,10.2966
synonymous_variant,CPXM2,SILENT,NM_198148.2:p.Asp544Asp/c.1632C>T,gaC/gaT,LOW,COSM4144416(1),0.60643,0.5655,rs10794566,,,,,,chr10,125521533,125521533,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp544Asp/c.1632C>T|756|CPXM2|protein_coding|CODING|NM_198148.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.592,0.7277,0.7684,0.67,0.51,0.75,,,,,,,,,,,,,,,,
synonymous_variant,CPXM2,SILENT,NM_198148.2:p.Tyr525Tyr/c.1575C>T,taC/taT,LOW,COSM4144418(1),0.64996,0.5665,rs10794567,,,,,,chr10,125521590,125521590,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr525Tyr/c.1575C>T|756|CPXM2|protein_coding|CODING|NM_198148.2|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.5941,0.7435,0.7744,0.71,0.63,0.75,,,,,,,,,,,,,,,,
synonymous_variant,CPXM2,SILENT,NM_198148.2:p.Tyr431Tyr/c.1293C>T,taC/taT,LOW,COSM3751588(3),0.378794,0.5992,rs1219725,,,,,,chr10,125528048,125528048,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr431Tyr/c.1293C>T|756|CPXM2|protein_coding|CODING|NM_198148.2|9|1),"H1ESC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3916,0.4784,0.3738,0.31,0.19,0.38,,,,,,,,,,,,,,,,
missense_variant,CHST15,MISSENSE,NM_001270765.1:p.Pro454Ala/c.1360C>G,Ccc/Gcc,MODERATE,,0.807109,0.874,rs4072194,0(D),,0(N),-1.0177(T),,chr10,125780759,125780759,G,C,het,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro454Ala/c.1360C>G|506|CHST15|protein_coding|CODING|NM_001270765.1|6|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro454Ala/c.1360C>G|506|CHST15|protein_coding|CODING|NM_014863.3|6|1),intron_variant(MODIFIER|||c.1347+13C>G|561|CHST15|protein_coding|CODING|NM_001270764.1|6|1),intron_variant(MODIFIER|||c.1347+13C>G|561|CHST15|protein_coding|CODING|NM_015892.4|6|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,NH-A:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7485,0.8429,0.829,,,,,,1.000(N),,0.0447(T),0.107,0.500693,.,.,0.000000,0.000000,-0.227000,0.629000,0.962000,0.087000,.
missense_variant,LHPP,MISSENSE,NM_022126.3:p.Gln94Arg/c.281A>G,cAa/cGa,MODERATE,,0.897963,0.9385,rs6597801,1(T),"0.0,0.0,0.001(B,B,B)",-1.325(N),-0.9709(T),,chr10,126172863,126172863,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln94Arg/c.281A>G|210|LHPP|protein_coding|CODING|NM_001167880.1|2|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln94Arg/c.281A>G|270|LHPP|protein_coding|CODING|NM_022126.3|2|1)","H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.8027,0.8674,0.8479,0.92,0.98,0.89,,0.000001(N),0.998(P),"1.95,1.95,1.95(T,T,T)",0.0000(T),0.047,-0.178805,4.46,3.56,-0.726000,0.652000,5.159000,0.749000,1.000000,1.000000,8.4407
missense_variant,METTL10,MISSENSE,NM_212554.2:p.Gly8Ser/c.22G>A,Ggc/Agc,MODERATE,COSM3749086(7),0.0688898,0,rs144443222,,0.005(B),0.345(N),-1.0031(T),,chr10,126480381,126480381,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly8Ser/c.22G>A|291|METTL10|protein_coding|CODING|NM_212554.2|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:SP2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,H1ESC:Egr1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ",,,,0.0583,0.111,0.1998,0.13,0.04,0.18,,0.015454(N),1.000(N),2.0(T),0.0000(T),0.125,0.219551,2.9,-2.95,-0.261000,-0.720000,-0.901000,0.133000,0.000000,0.000000,4.0158
synonymous_variant,FAM175B,SILENT,NM_032182.3:p.Val202Val/c.606G>A,gtG/gtA,LOW,,0.483027,0.5873,rs2303611,,,,,,chr10,126517989,126517989,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val202Val/c.606G>A|415|FAM175B|protein_coding|CODING|NM_032182.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6759,0.5663,0.5457,0.46,0.24,0.57,,,,,,,,,,,,,,,,
missense_variant,CTBP2,MISSENSE,NM_022802.2:p.Leu392Pro/c.1175T>C,cTg/cCg,MODERATE,COSM3751594(2),0.323482,0.2897,rs3781412,0(D),0.858(P),,-1.0118(T),,chr10,126715154,126715154,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu392Pro/c.1175T>C|985|CTBP2|protein_coding|CODING|NM_022802.2|1|1),intron_variant(MODIFIER|||c.58+12412T>C|445|CTBP2|protein_coding|CODING|NM_001083914.1|3|1),intron_variant(MODIFIER|||c.58+12412T>C|445|CTBP2|protein_coding|CODING|NM_001290214.1|3|1),intron_variant(MODIFIER|||c.58+12412T>C|445|CTBP2|protein_coding|CODING|NM_001290215.1|3|1),intron_variant(MODIFIER|||c.58+12412T>C|445|CTBP2|protein_coding|CODING|NM_001329.2|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2546,0.5548,0.4155,0.28,0.18,0.33,,0.624837(N),0.000(P),-1.86(D),0.0000(T),0.156,1.764684,2.92,-0.201,0.260000,0.253000,4.355000,0.146000,0.702000,0.998000,8.2922
missense_variant,CTBP2,MISSENSE,NM_022802.2:p.Val234Met/c.700G>A,Gtg/Atg,MODERATE,COSM3741547(2),0.201677,0.2431,rs3781409,0.04(D),0.117(B),,-1.1249(T),,chr10,126715629,126715629,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val234Met/c.700G>A|985|CTBP2|protein_coding|CODING|NM_022802.2|1|1),intron_variant(MODIFIER|||c.58+11937G>A|445|CTBP2|protein_coding|CODING|NM_001083914.1|3|1),intron_variant(MODIFIER|||c.58+11937G>A|445|CTBP2|protein_coding|CODING|NM_001290214.1|3|1),intron_variant(MODIFIER|||c.58+11937G>A|445|CTBP2|protein_coding|CODING|NM_001290215.1|3|1),intron_variant(MODIFIER|||c.58+11937G>A|445|CTBP2|protein_coding|CODING|NM_001329.2|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1687,0.2651,0.2823,0.22,0.12,0.27,,0.009162(N),0.000(P),-2.41(D),0.0000(T),0.117,4.024336,4.54,3.64,0.655000,1.283000,3.490000,0.967000,0.956000,0.997000,12.9826
missense_variant,MMP21,MISSENSE,NM_147191.1:p.Val191Ala/c.572T>C,gTg/gCg,MODERATE,COSM3751596(2),0.738818,0.7619,rs10901425,0.64(T),0.002(B),-0.16(N),-0.9794(T),,chr10,127462525,127462525,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val191Ala/c.572T>C|569|MMP21|protein_coding|CODING|NM_147191.1|2|1),,,,,0.7771,0.6282,0.8091,0.79,0.74,0.82,,0.403520(N),1.000(P),2.16(T),0.0000(T),0.007,-0.730367,4.61,-9.23,-1.163000,-2.109000,0.696000,0.067000,0.020000,0.008000,0.7586
synonymous_variant,MMP21,SILENT,NM_147191.1:p.Ala88Ala/c.264G>A,gcG/gcA,LOW,,0.233826,0.1597,rs28381281,,,,,,chr10,127462833,127462833,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala88Ala/c.264G>A|569|MMP21|protein_coding|CODING|NM_147191.1|2|1),HepG2:H3K27me3,,,,0.1697,0.2608,0.3867,,,,,,,,,,,,,,,,,,,
synonymous_variant,DHX32,SILENT,NM_018180.2:p.Ala510Ala/c.1530A>G,gcA/gcG,LOW,COSM147080(2),0.454073,0.3234,rs3208565,,,,,,chr10,127530325,127530325,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala510Ala/c.1530A>G|743|DHX32|protein_coding|CODING|NM_018180.2|7|1),3_prime_UTR_variant(MODIFIER||397|c.*397T>C|292|BCCIP|protein_coding|CODING|NM_078469.2|7|1),intron_variant(MODIFIER|||c.850+426T>C|322|BCCIP|protein_coding|CODING|NM_016567.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4816,0.3487,0.4443,0.50,0.57,0.46,,,,,,,,,,,,,,,,
missense_variant,FANK1,MISSENSE,NM_145235.3:p.Arg46Ser/c.138G>C,agG/agC,MODERATE,,0.0129792,0,rs17153882,0.4(T),"0.064,0.012,0.005,0.002(B,B,B,B)",1.79(L),-1.0675(T),,chr10,127668854,127668854,G,C,het,missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg46Ser/c.138G>C|345|FANK1|protein_coding|CODING|NM_145235.3|2|1),HepG2:H3K27me3,,,,0.0143,0.0259,0.0318,0.03,0.01,0.03,,0.057981(N),1.000(N),"1.64,1.64,1.64,1.64,1.64,1.64,1.64(T,T,T,T,T,T,T)",0.0135(T),0.42,1.186455,5.01,0.761,0.563000,0.148000,0.861000,0.734000,0.155000,0.994000,5.3937
missense_variant,FANK1,MISSENSE,NM_145235.3:p.Leu329Val/c.985T>G,Tta/Gta,MODERATE,,0.00898562,0,rs1666,0.28(T),"0.476,0.197(P,B)",0.975(L),-1.1005(T),,chr10,127697954,127697954,T,G,het,missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu329Val/c.985T>G|345|FANK1|protein_coding|CODING|NM_145235.3|11|1),"IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0041,0.0159,0.0288,0.02,0.00,0.03,,0.000025(D),0.999(D),"0.41,0.41,1.28(T,T,T)",0.0371(T),0.26,0.823617,4.98,1.41,0.460000,0.081000,-0.576000,0.112000,0.752000,0.000000,3.136
missense_variant,ADAM12,MISSENSE,NM_003474.5:p.Ile908Val/c.2722A>G,Att/Gtt,MODERATE,,0.0129792,0,rs41303603,0.48(T),0.0(B),0(N),-0.8987(T),,chr10,127705856,127705856,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile905Val/c.2713A>G|906|ADAM12|protein_coding|CODING|NM_001288973.1|23|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile908Val/c.2722A>G|909|ADAM12|protein_coding|CODING|NM_003474.5|23|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0143,0.0231,0.0318,0.03,0.01,0.03,,0.734319(N),1.000(N),4.88(T),0.0008(T),0.013,0.575616,5.27,-5.37,0.533000,-0.925000,-1.044000,0.343000,0.000000,0.000000,3.9472
synonymous_variant,ADAM12,SILENT,NM_003474.5:p.Ala825Ala/c.2475T>C,gcT/gcC,LOW,,0.266973,0.4484,rs1044122,,,,,,chr10,127724778,127724778,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala822Ala/c.2466T>C|906|ADAM12|protein_coding|CODING|NM_001288973.1|21|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala825Ala/c.2475T>C|909|ADAM12|protein_coding|CODING|NM_003474.5|21|1)","NH-A:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.2393,0.2291,0.2744,0.25,0.19,0.28,,,,,,,,,,,,,,,,
missense_variant,ADAM12,MISSENSE,NM_003474.5:p.Gly48Arg/c.142G>C,Ggg/Cgg,MODERATE,,0.523363,0.4772,rs3740199,0.4(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-0.9325(T),,chr10,128019025,128019025,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly48Arg/c.142G>C|906|ADAM12|protein_coding|CODING|NM_001288973.1|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly48Arg/c.142G>C|737|ADAM12|protein_coding|CODING|NM_001288974.1|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly48Arg/c.142G>C|735|ADAM12|protein_coding|CODING|NM_001288975.1|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly48Arg/c.142G>C|909|ADAM12|protein_coding|CODING|NM_003474.5|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly48Arg/c.142G>C|738|ADAM12|protein_coding|CODING|NM_021641.4|2|1)",NH-A:H3K36me3,,,,0.4254,0.5965,0.5398,0.57,0.59,0.56,,0.530222(N),1.000(P),"4.87,2.09,3.81(T,T,T)",0.0000(T),0.336,-0.793114,4.93,-3.88,-0.701000,-1.216000,-2.308000,0.009000,0.000000,0.000000,6.3149
synonymous_variant,C10orf90,SILENT,NM_001004298.2:p.Ala32Ala/c.96A>G,gcA/gcG,LOW,COSM3997824(1),0.875998,0.8571,rs1436803,,,,,,chr10,128202435,128202435,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala32Ala/c.96A>G|699|C10orf90|protein_coding|CODING|NM_001004298.2|2|1),IMR90:H3K27me3,,,,0.8722,0.8631,0.8569,0.87,0.91,0.85,,,,,,,,,,,,,,,,
synonymous_variant,DOCK1,SILENT,NM_001290223.1:p.Ala579Ala/c.1737A>G,gcA/gcG,LOW,COSM3997825(1),0.125998,0.0873,rs2229597,,,,,,chr10,128830409,128830409,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala579Ala/c.1737A>G|1886|DOCK1|protein_coding|CODING|NM_001290223.1|18|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala558Ala/c.1674A>G|1865|DOCK1|protein_coding|CODING|NM_001380.4|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1309,0.2003,0.2137,0.17,0.07,0.21,,,,,,,,,,,,,,,,
synonymous_variant,DOCK1,SILENT,NM_001290223.1:p.Arg944Arg/c.2832A>G,cgA/cgG,LOW,,0.74381,0.8423,rs1060561,,,,,,chr10,128926013,128926013,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg944Arg/c.2832A>G|1886|DOCK1|protein_coding|CODING|NM_001290223.1|27|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg923Arg/c.2769A>G|1865|DOCK1|protein_coding|CODING|NM_001380.4|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9018,0.7853,0.8648,0.75,0.52,0.86,,,,,,,,,,,,,,,,
synonymous_variant,FAM196A,SILENT,NM_001039762.2:p.Thr13Thr/c.39G>A,acG/acA,LOW,,0.528554,0.7401,rs2489386,,,,,,chr10,128974621,128974621,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr13Thr/c.39G>A|479|FAM196A|protein_coding|CODING|NM_001039762.2|4|1),intron_variant(MODIFIER|||c.2847+48593C>T|1886|DOCK1|protein_coding|CODING|NM_001290223.1|27|1),intron_variant(MODIFIER|||c.2784+48593C>T|1865|DOCK1|protein_coding|CODING|NM_001380.4|27|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6104,0.5634,0.5875,0.48,0.29,0.58,,,,,,,,,,,,,,,,
synonymous_variant,DOCK1,SILENT,NM_001290223.1:p.Ser1138Ser/c.3414G>A,tcG/tcA,LOW,COSM3751603(2),0.204273,0.1359,rs2296635,,,,,,chr10,129160458,129160458,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1138Ser/c.3414G>A|1886|DOCK1|protein_coding|CODING|NM_001290223.1|33|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1117Ser/c.3351G>A|1865|DOCK1|protein_coding|CODING|NM_001380.4|33|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2781,0.1628,0.2684,0.24,0.18,0.27,,,,,,,,,,,,,,,,
synonymous_variant,DOCK1,SILENT,NM_001290223.1:p.Ile1515Ile/c.4545T>C,atT/atC,LOW,COSM3751604(1),0.31889,0.4296,rs2229600,,,,,,chr10,129216658,129216658,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1515Ile/c.4545T>C|1886|DOCK1|protein_coding|CODING|NM_001290223.1|45|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1494Ile/c.4482T>C|1865|DOCK1|protein_coding|CODING|NM_001380.4|45|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3221,0.4222,0.2575,0.25,0.24,0.26,,,,,,,,,,,,,,,,
synonymous_variant,DOCK1,SILENT,NM_001290223.1:p.Arg1795Arg/c.5385G>A,agG/agA,LOW,COSM3751605(1),0.33746,0.4653,rs11371,,,,,,chr10,129242515,129242515,G,A,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg1795Arg/c.5385G>A|1886|DOCK1|protein_coding|CODING|NM_001290223.1|50|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg1774Arg/c.5322G>A|1865|DOCK1|protein_coding|CODING|NM_001380.4|50|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3834,0.2824,0.3658,0.32,0.22,0.38,,,,,,,,,,,,,,,,
missense_variant,DOCK1,MISSENSE,NM_001290223.1:p.Ala1878Thr/c.5632G>A,Gca/Aca,MODERATE,COSM4144470(1),0.865016,0.9127,rs2229603,0.39(T),0.0(B),-0.55(N),-1.0285(T),,chr10,129249662,129249662,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1878Thr/c.5632G>A|1886|DOCK1|protein_coding|CODING|NM_001290223.1|52|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1857Thr/c.5569G>A|1865|DOCK1|protein_coding|CODING|NM_001380.4|52|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9448,0.9409,0.9761,0.88,0.70,0.97,,0.000950(N),1.000(P),3.89(T),0.0000(T),0.112,0.228710,5.18,2.71,-0.254000,0.317000,1.286000,0.887000,0.938000,0.998000,3.2878
synonymous_variant,DOCK1,SILENT,NM_001290223.1:p.Ser1882Ser/c.5646C>T,tcC/tcT,LOW,,0.422524,0.4593,rs2229604,,,,,,chr10,129249676,129249676,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1882Ser/c.5646C>T|1886|DOCK1|protein_coding|CODING|NM_001290223.1|52|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1861Ser/c.5583C>T|1865|DOCK1|protein_coding|CODING|NM_001380.4|52|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5092,0.4986,0.497,0.42,0.26,0.49,,,,,,,,,,,,,,,,
missense_variant,NPS,MISSENSE,NM_001030013.1:p.Val75Leu/c.223G>C,Gtt/Ctt,MODERATE,COSM3751606(1),0.0421326,0,rs4751440,0(D),0.996(D),,-0.9655(T),,chr10,129350856,129350856,G,C,het,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val75Leu/c.223G>C|89|NPS|protein_coding|CODING|NM_001030013.1|3|1),,,,,0.0481,0.0461,0.1243,0.10,0.02,0.14,,0.013604(U),0.003(P),0.27(T),0.0063(T),0.388,4.520777,5.47,5.47,0.585000,2.578000,4.581000,0.990000,0.896000,1.000000,19.3258
missense_variant,CLRN3,MISSENSE,NM_152311.3:p.Pro71Gln/c.212C>A,cCa/cAa,MODERATE,COSM3751607(1),0.014976,0,rs35890579,0.62(T),0.5(P),1.1(L),-0.9934(T),,chr10,129690837,129690837,G,T,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro71Gln/c.212C>A|226|CLRN3|protein_coding|CODING|NM_152311.3|1|1),HUVEC:H3K27me3,,,,0.0143,0.0159,0.0467,0.04,0.01,0.05,,0.721034(N),1.000(N),-0.95(T),0.0689(T),0.075,1.113346,5.52,2.96,0.655000,0.460000,0.299000,0.009000,0.000000,0.000000,6.9764
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Lys3217Glu/c.9649A>G,Aaa/Gaa,MODERATE,COSM1128106(2),0.463658,0.3859,rs8473,1(T),"0.0,0.0(B,B)",-0.695(N),-1.0025(T),,chr10,129899578,129899578,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys2857Glu/c.8569A>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|13|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys3217Glu/c.9649A>G|3256|MKI67|protein_coding|CODING|NM_002417.4|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3906,0.6095,0.5209,0.50,0.46,0.52,,0.643305(N),1.000(P),"5.45,5.4(T,T)",0.0000(T),0.018,-1.300921,3.43,-1.02,-0.716000,-0.503000,-0.518000,0.001000,0.000000,0.000000,8.04
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Thr3150Ser/c.9449C>G,aCt/aGt,MODERATE,COSM3997827(1),0.423922,0.3859,rs11106,0.81(T),"0.0,0.0(B,B)",-0.695(N),-0.9967(T),,chr10,129899778,129899778,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr2790Ser/c.8369C>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|13|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr3150Ser/c.9449C>G|3256|MKI67|protein_coding|CODING|NM_002417.4|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.5432,0.4264,0.43,0.45,0.43,,0.243062(N),1.000(P),"5.27,5.22(T,T)",0.0000(T),0.004,-1.458143,2.91,-1.54,-0.215000,-0.713000,-1.919000,0.007000,0.000000,0.000000,3.3231
synonymous_variant,MKI67,SILENT,NM_002417.4:p.Ser3082Ser/c.9246G>A,tcG/tcA,LOW,COSM147091(3),0.178115,0.121,rs3191122,,,,,,chr10,129900858,129900858,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser2722Ser/c.8166G>A|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser3082Ser/c.9246G>A|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.3112,0.2684,0.19,0.09,0.25,,,,,,,,,,,,,,,,
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Arg3013Leu/c.9038G>T,cGc/cTc,MODERATE,,0.0317492,0.0188,rs114687140,0.31(T),"0.106,0.049,0.033(B,B,B)",0.695(N),-0.9313(T),,chr10,129901066,129901066,C,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg2653Leu/c.7958G>T|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg3013Leu/c.9038G>T|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.036,0.0586,0.05,0.03,0.06,,0.334167(N),1.000(N),"4.65,4.62(T,T)",0.0006(T),0.186,0.869052,3.93,1.84,-0.258000,0.972000,.,0.033000,0.001000,.,4.1152
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Gln2904Arg/c.8711A>G,cAg/cGg,MODERATE,COSM3997828(2),0.233427,0.2619,rs11016071,0.59(T),"0.0,0.0,0.001(B,B,B)",-0.2(N),-0.9026(T),,chr10,129901393,129901393,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln2544Arg/c.7631A>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln2904Arg/c.8711A>G|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.136,0.2291,0.1571,0.22,0.31,0.17,,,1.000(P),"4.35,4.35(T,T)",0.0000(T),0.033,-1.084907,4.28,-7.32,-1.082000,-2.219000,-1.024000,0.018000,0.000000,0.000000,7.3884
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Thr2868Ser/c.8603C>G,aCc/aGc,MODERATE,COSM146353(4),0.180312,0.119,rs2071496,0.77(T),"0.789,0.798,0.73(P,P,P)",1.01(L),-1.0185(T),,chr10,129901501,129901501,G,C,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr2508Ser/c.7523C>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr2868Ser/c.8603C>G|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.3112,0.2714,0.20,0.09,0.25,,,1.000(P),"4.33,4.33(T,T)",0.0000(T),0.035,1.750579,4.68,-2.31,-0.140000,-0.761000,-0.652000,0.004000,0.000000,0.000000,2.8949
synonymous_variant,MKI67,SILENT,NM_002417.4:p.Ala2794Ala/c.8382C>T,gcC/gcT,LOW,COSM3997829(1),0.232029,0.2599,rs10082432,,,,,,chr10,129901722,129901722,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2434Ala/c.7302C>T|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2794Ala/c.8382C>T|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.136,0.2277,0.1581,0.22,0.31,0.17,,,,,,,,,,,,,,,,
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Ser2793Asn/c.8378G>A,aGt/aAt,MODERATE,COSM3997830(1),0.232228,0.2599,rs10082533,0.49(T),"0.0,0.0,0.0(B,B,B)",-0.69(N),-0.9731(T),,chr10,129901726,129901726,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2433Asn/c.7298G>A|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2793Asn/c.8378G>A|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.137,0.2277,0.1581,0.22,0.31,0.17,,,1.000(P),"4.45,4.45(T,T)",0.0000(T),0.004,-0.074525,3.93,-0.274,-0.982000,-0.437000,-0.151000,0.002000,0.000000,0.000000,4.2767
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Arg2786Gln/c.8357G>A,cGg/cAg,MODERATE,COSM3751611(2),0.179712,0.1181,rs10764749,0.63(T),"0.644,0.139,0.156(P,B,B)",0.06(N),-0.9694(T),,chr10,129901747,129901747,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2426Gln/c.7277G>A|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2786Gln/c.8357G>A|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.3112,0.2704,0.20,0.09,0.25,,,1.000(P),"4.57,4.57(T,T)",0.0000(T),0.054,3.065692,3.93,-5.02,0.655000,-1.121000,-0.829000,0.412000,0.000000,0.000000,0.5841
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Asp2760Gly/c.8279A>G,gAt/gGt,MODERATE,COSM3997831(2),0.232029,0.2599,rs10082391,0.32(T),"0.588,0.718,0.58(P,P,P)",0.06(N),-0.9026(T),,chr10,129901825,129901825,T,C,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp2400Gly/c.7199A>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp2760Gly/c.8279A>G|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.137,0.2277,0.1571,0.22,0.31,0.17,,,1.000(P),"4.45,4.45(T,T)",0.0000(T),0.022,1.856009,3.34,-2.42,-0.256000,-0.615000,0.206000,0.004000,0.000000,0.000000,4.821
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Thr2720Pro/c.8158A>C,Aca/Cca,MODERATE,,0.222244,0.2599,rs1050767,0.27(T),"0.529,0.791,0.812(P,P,P)",0.69(N),-0.8703(T),,chr10,129901946,129901946,T,G,het,"missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr2360Pro/c.7078A>C|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr2720Pro/c.8158A>C|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.137,0.2233,0.1571,0.21,0.27,0.17,,,1.000(P),"4.2,4.2(T,T)",0.0000(T),0.088,2.087836,3.71,-0.381,0.533000,-0.169000,-0.422000,0.004000,0.000000,0.000000,3.2228
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Arg2649His/c.7946G>A,cGt/cAt,MODERATE,,0.222244,0.2599,rs12777740,0.12(T),"0.55,0.748,0.876(P,P,P)",0.69(N),-0.9062(T),,chr10,129902158,129902158,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2289His/c.6866G>A|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2649His/c.7946G>A|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.137,0.2233,0.1571,0.21,0.27,0.17,,0.308338(N),1.000(P),"4.41,4.41(T,T)",0.0000(T),0.018,2.167594,3.68,0.7,-0.344000,0.025000,-0.743000,0.003000,0.000000,0.000000,4.0227
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Pro2608Leu/c.7823C>T,cCc/cTc,MODERATE,COSM3997832(2),0.46266,0.378,rs1063535,0.32(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-1.0389(T),,chr10,129902281,129902281,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro2248Leu/c.6743C>T|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro2608Leu/c.7823C>T|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.6081,0.5209,0.50,0.46,0.52,,,1.000(P),"4.92,4.92(T,T)",0.0000(T),0.026,0.333006,2.27,-4.04,-0.360000,-1.587000,0.074000,0.020000,0.000000,0.000000,1.3429
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Asp2579Val/c.7736A>T,gAc/gTc,MODERATE,COSM328282(1),0.0407348,0.0188,rs79661992,0.33(T),"0.133,0.042,0.041(B,B,B)",1.245(L),-0.9310(T),,chr10,129902368,129902368,T,A,het,"missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp2219Val/c.6656A>T|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp2579Val/c.7736A>T|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0375,0.0586,0.05,0.05,0.06,,,1.000(N),"4.79,4.66(T,T)",0.0005(T),0.034,1.504090,2.62,-2.94,-0.371000,-0.713000,-2.003000,0.002000,0.000000,0.000000,3.244
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Asn2363Ser/c.7088A>G,aAc/aGc,MODERATE,COSM3997833(2),0.463658,0.381,rs386607139,0.93(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-0.9361(T),,chr10,129903016,129903016,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn2003Ser/c.6008A>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn2363Ser/c.7088A>G|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.6095,0.5219,0.50,0.46,0.52,,0.000217(N),1.000(P),"4.72,4.72(T,T)",0.0000(T),0.004,-0.973252,3.21,-5.36,-1.147000,-1.763000,-0.572000,0.000000,0.000000,0.000000,9.3918
synonymous_variant,MKI67,SILENT,NM_002417.4:p.His2213His/c.6639T>C,caT/caC,LOW,COSM3751613(2),0.190895,0.12,rs2857028,,,,,,chr10,129903465,129903465,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His1853His/c.5559T>C|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),synonymous_variant(LOW|SILENT|caT/caC|p.His2213His/c.6639T>C|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.3156,0.2704,0.21,0.13,0.25,,,,,,,,,,,,,,,,
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Arg1876Gln/c.5627G>A,cGg/cAg,MODERATE,COSM3997834(1),0.222444,0.2609,rs11591817,0.59(T),"0.006,0.05,0.946(B,B,D)",0.55(N),-0.9025(T),,chr10,129904477,129904477,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1516Gln/c.4547G>A|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1876Gln/c.5627G>A|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.137,0.2233,0.1571,0.21,0.27,0.17,,0.082631(N),1.000(P),"4.53,4.53(T,T)",0.0000(T),0.015,1.999002,2.66,-4.27,-0.367000,-0.537000,-4.628000,0.001000,0.000000,0.000000,0.5944
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Glu1403Val/c.4208A>T,gAg/gTg,MODERATE,COSM146355(3),0.139976,0.1181,rs3740423,0.15(T),"0.855,0.994,0.971(P,D,D)",1.7(L),-0.9454(T),,chr10,129905896,129905896,T,A,het,"missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu1043Val/c.3128A>T|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu1403Val/c.4208A>T|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.181,0.281,0.1958,0.13,0.03,0.18,,,1.000(P),"3.42,3.42(T,T)",0.0000(T),0.16,2.391928,3.81,2.66,0.459000,0.650000,-1.195000,0.006000,0.002000,0.000000,4.0897
synonymous_variant,MKI67,SILENT,NM_002417.4:p.Gln1212Gln/c.3636G>A,caG/caA,LOW,,0.232428,0.2609,rs386595111,,,,,,chr10,129906468,129906468,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln852Gln/c.2556G>A|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1212Gln/c.3636G>A|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.136,0.2277,0.1571,0.22,0.31,0.17,,,,,,,,,,,,,,,,
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Gly1042Ser/c.3124G>A,Ggc/Agc,MODERATE,,0.190495,0.1181,rs2152143,0.73(T),"0.03,0.561,0.442(B,P,B)",0.97(L),-1.0180(T),,chr10,129906980,129906980,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly682Ser/c.2044G>A|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1042Ser/c.3124G>A|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.3156,0.2704,0.21,0.13,0.25,,,1.000(P),"4.5,4.5(T,T)",0.0000(T),0.031,1.116707,2.17,-4.11,-0.258000,-1.001000,-1.344000,0.002000,0.000000,0.000000,8.0782
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Leu854Val/c.2560C>G,Ctg/Gtg,MODERATE,COSM4144476(1),0.232827,0.2609,rs2240,0.31(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9261(T),,chr10,129907544,129907544,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu494Val/c.1480C>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|12|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu854Val/c.2560C>G|3256|MKI67|protein_coding|CODING|NM_002417.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.136,0.2291,0.1571,0.22,0.31,0.17,,0.231244(N),1.000(P),"5.02,4.97(T,T)",0.0000(T),0.005,-1.790947,3.48,-2.73,-0.215000,-1.216000,-1.747000,0.001000,0.000000,0.000000,1.125
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Glu497Asp/c.1491G>C,gaG/gaC,MODERATE,,,,rs11016076,0.23(T),"0.799,0.799,0.539(P,P,P)",1.67(L),-0.8634(T),,chr10,129911856,129911856,C,G,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu137Asp/c.411G>C|2896|MKI67|protein_coding|CODING|NM_001145966.1|7|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu497Asp/c.1491G>C|3256|MKI67|protein_coding|CODING|NM_002417.4|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.22,0.32,0.18,,0.001040(N),1.000(P),"4.82,4.91(T,T)",0.0000(T),0.028,3.636790,4.84,0.711,0.655000,0.635000,0.157000,0.416000,0.590000,0.024000,3.0372
missense_variant,MKI67,MISSENSE,NM_002417.4:p.Asn104Ser/c.311A>G,aAt/aGt,MODERATE,COSM3751617(3),0.633986,0.6389,rs2071498,,"0.702,0.05(P,B)",0.695(N),-1.0938(T),,chr10,129917560,129917560,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn104Ser/c.311A>G|2896|MKI67|protein_coding|CODING|NM_001145966.1|5|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn104Ser/c.311A>G|3256|MKI67|protein_coding|CODING|NM_002417.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.719,0.665,0.62,0.56,0.64,,0.256459(N),1.000(P),"2.02,5.13(T,T)",0.0000(T),0.01,2.889073,3.64,3.64,0.528000,1.890000,1.414000,0.344000,0.003000,0.003000,8.955
synonymous_variant,MGMT,SILENT,NM_002412.3:p.Arg22Arg/c.66C>T,cgC/cgT,LOW,COSM3751618(1),0.0245607,0,rs16906252,,,,,,chr10,131265545,131265545,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg22Arg/c.66C>T|238|MGMT|protein_coding|CODING|NM_002412.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.0399,0.0288,0.0616,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,GLRX3,MISSENSE,NM_001199868.1:p.Gln21His/c.63G>C,caG/caC,MODERATE,COSM427252(4),0.16254,0.1091,rs13991,0.36(T),0.645(P),1.605(L),-0.9848(T),,chr10,131934747,131934747,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln21His/c.63G>C|335|GLRX3|protein_coding|CODING|NM_001199868.1|1|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln21His/c.63G>C|335|GLRX3|protein_coding|CODING|NM_006541.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:Srf,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HeLa-S3:Tr4,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:TAF1,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.2505,0.0893,0.2326,0.14,0.10,0.16,,0.000052(D),0.000(P),"2.47,2.47(T,T)",0.0000(T),0.052,3.054661,3.85,2.92,0.313000,0.802000,0.140000,0.810000,0.997000,0.996000,8.5365
missense_variant,GLRX3,MISSENSE,NM_001199868.1:p.Pro123Ser/c.367C>T,Ccc/Tcc,MODERATE,COSM1346807(2),0.191094,0.1101,rs2274217,0.77(T),0.0(B),0(N),-0.9274(T),,chr10,131959150,131959150,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro123Ser/c.367C>T|335|GLRX3|protein_coding|CODING|NM_001199868.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro123Ser/c.367C>T|335|GLRX3|protein_coding|CODING|NM_006541.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,GM12878:CTCF,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:CTCF",,,,0.3129,0.1282,0.2853,0.22,0.14,0.26,,0.025598(N),1.000(P),"3.08,3.08(T,T)",0.0000(T),0.067,-0.388811,4.39,4.39,0.655000,2.284000,0.666000,0.141000,0.206000,0.090000,10.9948
synonymous_variant,TCERG1L,SILENT,NM_174937.3:p.Ser99Ser/c.297C>T,tcC/tcT,LOW,COSM4144484(2),0.258786,0.2917,rs148913526,,,,,,chr10,133109602,133109602,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser99Ser/c.297C>T|586|TCERG1L|protein_coding|CODING|NM_174937.3|1|1),"H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3978,0.2161,0.3211,,,,,,,,,,,,,,,,,,,
missense_variant,PPP2R2D,MISSENSE,NM_018461.4:p.Arg325Gln/c.974G>A,cGg/cAg,MODERATE,COSM3997846(1),0.184105,0.1607,rs34473884,0.03(D),0.39(B),,-1.0419(T),,chr10,133761285,133761285,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly193Ser/c.577G>A|288|PPP2R2D|protein_coding|CODING|NM_001291310.1|6|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg325Gln/c.974G>A|420|PPP2R2D|protein_coding|CODING|NM_018461.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.960G>A||PPP2R2D||CODING|NR_033191.2|7|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,NHEK:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,IMR90:H2BK12ac,HUVEC:DNase1,IMR90:H2AK5ac,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3,NHEK:DNase1",,,,0.2843,0.2392,0.2068,0.19,0.10,0.23,,0.000001(N),0.000(P),1.67(T),0.0000(T),0.693,3.015017,3.49,2.58,0.655000,0.820000,8.740000,0.834000,0.072000,1.000000,10.5605
synonymous_variant,BNIP3,SILENT,NM_004052.2:p.Arg78Arg/c.234A>G,agA/agG,LOW,COSM3751627(1),0.0722843,0.0198,rs1050704,,,,,,chr10,133786586,133786586,T,C,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg78Arg/c.234A>G|194|BNIP3|protein_coding|CODING|NM_004052.2|3|1),"CD4:H2AZ,H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0481,0.1081,0.1233,0.12,0.09,0.14,,,,,,,,,,,,,,,,
synonymous_variant,JAKMIP3,SILENT,NM_001105521.2:p.Ala20Ala/c.60G>A,gcG/gcA,LOW,COSM4144492(1),0.234225,0.2907,rs10870252,,,,,,chr10,133918372,133918372,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala20Ala/c.60G>A|844|JAKMIP3|protein_coding|CODING|NM_001105521.2|1|1),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0869,0.1412,0.175,0.23,0.32,0.18,,,,,,,,,,,,,,,,
synonymous_variant,JAKMIP3,SILENT,NM_001105521.2:p.Asn313Asn/c.939T>C,aaT/aaC,LOW,,0.860623,0.9891,rs2814182,,,,,,chr10,133948634,133948634,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn313Asn/c.939T>C|844|JAKMIP3|protein_coding|CODING|NM_001105521.2|4|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.7444,0.8501,0.6958,0.77,0.95,0.69,,,,,,,,,,,,,,,,
synonymous_variant,JAKMIP3,SILENT,NM_001105521.2:p.Asp467Asp/c.1401C>T,gaC/gaT,LOW,COSM3747150(2),0.513978,0.5883,rs2818387,,,,,,chr10,133954011,133954011,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp467Asp/c.1401C>T|844|JAKMIP3|protein_coding|CODING|NM_001105521.2|9|1),HepG2:H3K27me3,,,,0.4969,0.5793,0.4841,0.48,0.45,0.49,,,,,,,,,,,,,,,,
missense_variant,JAKMIP3,MISSENSE,NM_001105521.2:p.Met493Val/c.1477A>G,Atg/Gtg,MODERATE,COSM1128100(1),0.186701,0.2371,rs11592585,0.31(T),0.0(B),1.5(L),-0.9277(T),,chr10,133955427,133955427,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met493Val/c.1477A>G|844|JAKMIP3|protein_coding|CODING|NM_001105521.2|10|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1401,0.232,0.3419,0.27,0.09,0.35,,0.190165(N),0.000(P),2.06(T),0.0000(T),0.071,1.503688,3.87,-1.72,0.459000,-0.382000,-0.349000,0.976000,0.986000,0.001000,4.6571
synonymous_variant,JAKMIP3,SILENT,NM_001105521.2:p.His596His/c.1788C>T,caC/caT,LOW,COSM3751629(1),0.425519,0.3065,rs2818384,,,,,,chr10,133961494,133961494,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His596His/c.1788C>T|844|JAKMIP3|protein_coding|CODING|NM_001105521.2|13|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.362,0.7233,0.5895,0.52,0.35,0.61,,,,,,,,,,,,,,,,
synonymous_variant,DPYSL4,SILENT,NM_006426.2:p.Ala314Ala/c.942G>A,gcG/gcA,LOW,COSM4144494(1),0.854633,0.9286,rs2247705,,,,,,chr10,134013990,134013990,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala314Ala/c.942G>A|572|DPYSL4|protein_coding|CODING|NM_006426.2|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3",,,,0.8722,0.8862,0.8131,0.82,0.80,0.83,,,,,,,,,,,,,,,,
synonymous_variant,DPYSL4,SILENT,NM_006426.2:p.Gly497Gly/c.1491A>G,ggA/ggG,LOW,COSM3751630(1),0.841653,0.9583,rs12313,,,,,,chr10,134017295,134017295,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly497Gly/c.1491A>G|572|DPYSL4|protein_coding|CODING|NM_006426.2|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.8548,0.8718,0.8052,0.79,0.75,0.81,,,,,,,,,,,,,,,,
synonymous_variant,DPYSL4,SILENT,NM_006426.2:p.Val528Val/c.1584C>G,gtC/gtG,LOW,COSM3751631(1),0.151957,0.372,rs1052556,,,,,,chr10,134017388,134017388,C,G,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val528Val/c.1584C>G|572|DPYSL4|protein_coding|CODING|NM_006426.2|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0808,0.1153,0.1262,0.11,0.10,0.12,,,,,,,,,,,,,,,,
synonymous_variant,STK32C,SILENT,NM_173575.2:p.Arg401Arg/c.1203T>C,cgT/cgC,LOW,COSM3747152(2),0.766174,0.8442,rs2818401,,,,,,chr10,134036193,134036193,A,G,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg401Arg/c.1203T>C|486|STK32C|protein_coding|CODING|NM_173575.2|10|1),H1ESC:H3K36me3,,,,0.7536,0.8573,0.7883,0.75,0.68,0.79,,,,,,,,,,,,,,,,
synonymous_variant,STK32C,SILENT,NM_173575.2:p.Thr192Thr/c.576G>A,acG/acA,LOW,COSM3751634(3),0.0852636,0.1825,rs12413251,0(D),,,-1.0305(T),,chr10,134040367,134040367,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr192Thr/c.576G>A|486|STK32C|protein_coding|CODING|NM_173575.2|4|1),,,,,0.0828,0.0706,0.0805,0.06,0.03,0.07,,,0.000(P),,0.0002(T),.,1.648300,4.75,-7.08,-0.460000,-2.113000,-4.135000,0.901000,0.561000,0.000000,2.8052
synonymous_variant,LRRC27,SILENT,NM_001143757.1:p.Pro233Pro/c.699A>G,ccA/ccG,LOW,,0.845847,0.8651,rs2474328,,,,-1.0688(T),,chr10,134161633,134161633,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro233Pro/c.699A>G|530|LRRC27|protein_coding|CODING|NM_001143757.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro233Pro/c.699A>G|383|LRRC27|protein_coding|CODING|NM_001143758.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro233Pro/c.699A>G|383|LRRC27|protein_coding|CODING|NM_001143759.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro233Pro/c.699A>G|530|LRRC27|protein_coding|CODING|NM_030626.2|6|1),non_coding_exon_variant(MODIFIER|||n.804A>G||LRRC27||CODING|NR_026559.1|5|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.771,0.7954,0.7535,0.82,0.94,0.75,,,1.000(P),,0.0000(T),.,0.265676,4.1,-8.2,-0.726000,-3.477000,-4.009000,0.000000,0.000000,0.000000,1.6984
missense_variant,PWWP2B,MISSENSE,NM_138499.3:p.Arg89Cys/c.265C>T,Cgc/Tgc,MODERATE,COSM3751641(4),0.51897,0.625,rs11146363,0.09(T),0.0(B),-0.205(N),-0.9770(T),,chr10,134218269,134218269,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg89Cys/c.265C>T|499|PWWP2B|protein_coding|CODING|NM_001098637.1|2|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg89Cys/c.265C>T|590|PWWP2B|protein_coding|CODING|NM_138499.3|2|1)","HUVEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5133,0.4712,0.5944,0.58,0.48,0.63,,0.000130(N),1.000(P),"0.49,1.49(T,T)",0.0000(T),0.019,1.622790,3.64,-7.28,0.557000,-1.361000,0.710000,0.005000,0.000000,0.873000,0.9589
missense_variant,PWWP2B,MISSENSE,NM_138499.3:p.Arg98Gly/c.292C>G,Cgc/Ggc,MODERATE,COSM3751642(4),0.592452,0.6954,rs10747057,0.38(T),0.0(B),-0.55(N),-0.9356(T),,chr10,134218296,134218296,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg98Gly/c.292C>G|499|PWWP2B|protein_coding|CODING|NM_001098637.1|2|1),missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg98Gly/c.292C>G|590|PWWP2B|protein_coding|CODING|NM_138499.3|2|1)","HUVEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5051,0.5461,0.4563,0.58,0.73,0.50,,0.165319(N),1.000(P),"0.56,1.56(T,T)",0.0000(T),0.025,-1.327586,2.77,2.77,-0.224000,0.744000,-1.230000,0.003000,0.002000,0.000000,1.7392
missense_variant,NKX6-2,MISSENSE,NM_177400.2:p.Val209Ala/c.626T>C,gTg/gCg,MODERATE,COSM4144514(1),0.97524,1,rs2804003,1(T),0.0(B),-0.865(N),-0.9359(T),,chr10,134598628,134598628,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val209Ala/c.626T>C|277|NKX6-2|protein_coding|CODING|NM_177400.2|3|1),downstream_gene_variant(MODIFIER||1644||412|INPP5A|protein_coding|CODING|NM_005539.3||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.956,0.9654,0.9453,0.96,0.99,0.94,,0.000000(N),0.999(P),0.52(T),0.0000(T),0.124,0.462332,2.89,2.89,-0.684000,0.771000,4.855000,0.881000,0.995000,1.000000,10.8387
missense_variant,CFAP46,MISSENSE,NM_001200049.2:p.Ser2540Gly/c.7618A>G,Agt/Ggt,MODERATE,COSM3930962(1),0.756989,0.7381,rs2254419,0.24(T),0.0(B),0.205(N),-0.9713(T),,chr10,134623959,134623959,T,C,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser2540Gly/c.7618A>G|2715|CFAP46|protein_coding|CODING|NM_001200049.2|57|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7004,0.5447,0.6978,0.77,0.94,0.69,,0.015795(N),1.000(P),"2.84,2.57(T,T)",0.0000(T),0.103,-1.509092,2.98,-5.95,-0.930000,-3.436000,-3.996000,0.000000,0.000000,0.000000,8.6761
synonymous_variant,CFAP46,SILENT,NM_001200049.2:p.Ala2511Ala/c.7533G>A,gcG/gcA,LOW,COSM4144518(1),0.33107,0.6181,rs2274429,,,,,,chr10,134624504,134624504,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2511Ala/c.7533G>A|2715|CFAP46|protein_coding|CODING|NM_001200049.2|56|1),"H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4182,0.219,0.3419,0.27,0.14,0.34,,,,,,,,,,,,,,,,
missense_variant,CFAP46,MISSENSE,NM_001200049.2:p.Cys2125Arg/c.6373T>C,Tgc/Cgc,MODERATE,,0.16873,0.0744,rs10870341,0.65(T),0.0(B),-1.1(N),-0.9404(T),,chr10,134659626,134659626,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys2125Arg/c.6373T>C|2715|CFAP46|protein_coding|CODING|NM_001200049.2|44|1),"K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1779,0.1167,0.1352,0.17,0.25,0.12,,0.122830(N),1.000(P),"3.04,2.81(T,T)",0.0000(T),0.038,-2.939895,4.38,-1.49,-3.198000,-0.729000,0.032000,0.006000,0.000000,0.000000,6.2058
missense_variant,CFAP46,MISSENSE,NM_001200049.2:p.Glu1388Gly/c.4163A>G,gAg/gGg,MODERATE,,0.00519169,0.001,rs142539335,0.11(T),,,-0.9718(T),,chr10,134691434,134691434,T,C,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu1388Gly/c.4163A>G|2715|CFAP46|protein_coding|CODING|NM_001200049.2|30|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.0058,0.0119,,,,,,1.000(N),"3.22,3.22(T,T)",0.0133(T),0.074,0.253555,1.87,-0.736,-0.743000,-0.156000,-1.965000,0.002000,0.001000,0.000000,3.397
synonymous_variant,CFAP46,SILENT,NM_001200049.2:p.Ile435Ile/c.1305C>T,atC/atT,LOW,,0.00479233,0.002,rs117918463,,,,,,chr10,134736164,134736164,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile435Ile/c.1305C>T|2715|CFAP46|protein_coding|CODING|NM_001200049.2|12|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.0072,0.0058,0.0099,,,,,,,,,,,,,,,,,,,
synonymous_variant,GPR123,SILENT,NM_001083909.2:p.Ser278Ser/c.834A>G,tcA/tcG,LOW,COSM3751645(2),0.489217,0.5357,rs2806452,,,,,,chr10,134942166,134942166,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser278Ser/c.834A>G|560|GPR123|protein_coding|CODING|NM_001083909.2|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser181Ser/c.543A>G|463|GPR123|protein_coding|CODING|NM_001291085.1|4|1)",H1ESC:H3K36me3,,,,0.4335,0.621,0.4145,0.41,0.47,0.38,,,,,,,,,,,,,,,,
synonymous_variant,KNDC1,SILENT,NM_152643.6:p.Thr250Thr/c.750G>C,acG/acC,LOW,COSM3751649(2),0.782149,0.6885,rs3008393,,,,,,chr10,134999602,134999602,G,C,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr250Thr/c.750G>C|1749|KNDC1|protein_coding|CODING|NM_152643.6|6|1),"H1ESC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8252,0.7939,0.8618,0.86,0.80,0.89,,,,,,,,,,,,,,,,
missense_variant,KNDC1,MISSENSE,NM_152643.6:p.Leu717Pro/c.2150T>C,cTg/cCg,MODERATE,COSM4144537(1),0.557907,0.6121,rs2998139,0.27(T),"0.0,0.0,0.0(B,B,B)",-1.24(N),-0.9638(T),,chr10,135012162,135012162,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu717Pro/c.2150T>C|1749|KNDC1|protein_coding|CODING|NM_152643.6|14|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6309,0.4914,0.5308,0.56,0.55,0.56,,0.685777(N),1.000(P),"2.83,2.83,2.39(T,T,T)",0.0000(T),0.016,0.652101,2.82,2.82,-0.674000,0.768000,1.349000,0.000000,0.001000,0.004000,6.0141
missense_variant,KNDC1,MISSENSE,NM_152643.6:p.Val806Asp/c.2417T>A,gTt/gAt,MODERATE,COSM3749103(8),0.40016,0.5476,rs3008390,0.63(T),"0.352,0.107,0.05(B,B,B)",1.1(L),-0.9249(T),,chr10,135012429,135012429,T,A,het,missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val806Asp/c.2417T>A|1749|KNDC1|protein_coding|CODING|NM_152643.6|14|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5583,0.3919,0.4195,0.31,0.17,0.38,,0.253684(N),1.000(P),"2.82,2.82,2.23(T,T,T)",0.0000(T),0.029,0.126733,3.43,-1.31,0.255000,-0.241000,0.817000,0.015000,0.000000,0.000000,3.9153
synonymous_variant,KNDC1,SILENT,NM_152643.6:p.Val806Val/c.2418T>C,gtT/gtC,LOW,COSM3749106(2),0.545128,0.5486,rs3008389,,,,,,chr10,135012430,135012430,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val806Val/c.2418T>C|1749|KNDC1|protein_coding|CODING|NM_152643.6|14|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6299,0.4942,0.5318,0.58,0.59,0.58,,,,,,,,,,,,,,,,
synonymous_variant,KNDC1,SILENT,NM_152643.6:p.Asp880Asp/c.2640T>C,gaT/gaC,LOW,COSM3751656(1),0.411342,0.6091,rs3008388,,,,,,chr10,135012652,135012652,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp880Asp/c.2640T>C|1749|KNDC1|protein_coding|CODING|NM_152643.6|14|1),"H1ESC:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5777,0.4049,0.4384,,,,,,,,,,,,,,,,,,,
synonymous_variant,KNDC1,SILENT,NM_152643.6:p.Lys1573Lys/c.4719A>G,aaA/aaG,LOW,,0.104832,0.1171,rs3008370,,,,,,chr10,135032376,135032376,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1573Lys/c.4719A>G|1749|KNDC1|protein_coding|CODING|NM_152643.6|27|1),"GM12878:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1656,0.1671,0.1113,0.09,0.03,0.12,,,,,,,,,,,,,,,,
synonymous_variant,UTF1,SILENT,NM_003577.2:p.Arg4Arg/c.10C>A,Cgg/Agg,LOW,COSM4144541(1),0.711062,0.6687,rs7092433,,,,,,chr10,135043802,135043802,C,A,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg4Arg/c.10C>A|341|UTF1|protein_coding|CODING|NM_003577.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7843,0.7954,0.8618,,,,,,,,,,,,,,,,,,,
missense_variant,UTF1,MISSENSE,NM_003577.2:p.Gly73Arg/c.217G>A,Ggg/Agg,MODERATE,COSM4144542(1),0.0974441,0.0952,rs11599284,0.02(D),0.312(B),0.695(N),-1.0660(T),,chr10,135044009,135044009,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly73Arg/c.217G>A|341|UTF1|protein_coding|CODING|NM_003577.2|1|1),"H1ESC:H3K36me3,K562:Max,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:DNase1",,,,0.1851,0.1455,0.1014,,,,,,0.991(P),1.07(T),0.0006(T),0.295,2.728923,3.09,2.02,0.306000,1.654000,0.885000,0.313000,0.992000,0.496000,5.0227
synonymous_variant,VENTX,SILENT,NM_014468.3:p.Pro48Pro/c.144A>G,ccA/ccG,LOW,COSM427282(6),0.796925,0.994,rs2998143,,,,,,chr10,135051562,135051562,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro48Pro/c.144A>G|258|VENTX|protein_coding|CODING|NM_014468.3|1|1),"HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8446,0.6643,0.6054,0.66,0.80,0.59,,,,,,,,,,,,,,,,
missense_variant,VENTX,MISSENSE,NM_014468.3:p.Gly191Arg/c.571G>A,Ggg/Agg,MODERATE,COSM3751659(1),0.101837,0.0823,rs9418952,0.35(T),0.001(B),0.695(N),-0.9991(T),,chr10,135053604,135053604,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly191Arg/c.571G>A|258|VENTX|protein_coding|CODING|NM_014468.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1237,0.134,0.0586,0.08,0.12,0.07,,0.857031(N),1.000(P),-2.81(D),0.0094(T),0.169,0.495235,2.44,-2.11,-0.497000,-0.556000,-0.997000,0.008000,0.000000,0.000000,2.7017
missense_variant,VENTX,MISSENSE,NM_014468.3:p.Ala226Glu/c.677C>A,gCg/gAg,MODERATE,COSM3751660(1),0.102636,0.0823,rs74164127,0.27(T),0.265(B),0.345(N),-0.8321(T),,chr10,135053710,135053710,C,A,het,missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala226Glu/c.677C>A|258|VENTX|protein_coding|CODING|NM_014468.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.1354,0.0586,0.08,0.11,0.06,,0.152181(U),1.000(P),-2.7(D),0.0100(T),0.022,0.776378,2.3,-2.19,-0.417000,-0.591000,0.040000,0.002000,0.000000,0.008000,6.4789
missense_variant,VENTX,MISSENSE,NM_014468.3:p.Pro230Thr/c.688C>A,Cct/Act,MODERATE,COSM3751661(1),0.102236,0.0823,rs9419033,0(D),0.431(B),0.695(N),-0.7470(T),,chr10,135053721,135053721,C,A,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro230Thr/c.688C>A|258|VENTX|protein_coding|CODING|NM_014468.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.1354,0.0586,0.07,0.11,0.06,,0.000701(U),1.000(P),-2.89(D),0.0123(T),0.051,2.015024,2.3,0.163,0.442000,0.042000,0.502000,0.003000,0.001000,0.000000,4.5335
missense_variant,VENTX,MISSENSE,NM_014468.3:p.Gly247Asp/c.740G>A,gGc/gAc,MODERATE,COSM3930967(1),0.102636,0.0833,rs9418953,0.52(T),0.063(B),0.205(N),-0.9539(T),,chr10,135053773,135053773,G,A,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly247Asp/c.740G>A|258|VENTX|protein_coding|CODING|NM_014468.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.134,0.0586,0.07,0.10,0.06,,0.618472(U),1.000(P),-2.72(D),0.0078(T),0.034,0.463521,2.3,1.35,0.442000,0.508000,-0.781000,0.059000,0.002000,0.000000,4.2397
missense_variant,TUBGCP2,MISSENSE,NM_001256617.1:p.Leu471Arg/c.1412T>G,cTg/cGg,MODERATE,,,,,0(D),"0.999,0.999,1.0(D,D,D)",3.305(M),-0.7351(T),,chr10,135103360,135103360,A,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu471Arg/c.1412T>G|930|TUBGCP2|protein_coding|CODING|NM_001256617.1|10|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu313Arg/c.938T>G|772|TUBGCP2|protein_coding|CODING|NM_001256618.1|8|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu443Arg/c.1328T>G|902|TUBGCP2|protein_coding|CODING|NM_006659.3|9|1),non_coding_exon_variant(MODIFIER|||n.2085T>G||TUBGCP2||CODING|NR_046330.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"2.56,2.56,2.56,2.56,2.56(T,T,T,T,T)",0.1462(T),0.982,4.740471,5.64,5.64,0.533000,2.285000,8.953000,0.852000,1.000000,1.000000,15.0079
synonymous_variant,TUBGCP2,SILENT,NM_001256617.1:p.Thr149Thr/c.447G>A,acG/acA,LOW,COSM3751663(2),0.140375,0.0486,rs2298120,,,,,,chr10,135112940,135112940,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr149Thr/c.447G>A|930|TUBGCP2|protein_coding|CODING|NM_001256617.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr19Thr/c.57G>A|772|TUBGCP2|protein_coding|CODING|NM_001256618.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr149Thr/c.447G>A|902|TUBGCP2|protein_coding|CODING|NM_006659.3|4|1),non_coding_exon_variant(MODIFIER|||n.1204G>A||TUBGCP2||CODING|NR_046330.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.135,0.1931,0.1372,0.16,0.19,0.14,,,,,,,,,,,,,,,,
synonymous_variant,ZNF511,SILENT,NM_145806.2:p.Pro20Pro/c.60G>A,ccG/ccA,LOW,COSM3751664(2),0.204073,0.0635,rs3008357,,,,,,chr10,135122507,135122507,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro20Pro/c.60G>A|252|ZNF511|protein_coding|CODING|NM_145806.2|1|1),5_prime_UTR_variant(MODIFIER||6062|c.-220C>T|930|TUBGCP2|protein_coding|CODING|NM_001256617.1|1|1),5_prime_UTR_variant(MODIFIER||9511|c.-421C>T|772|TUBGCP2|protein_coding|CODING|NM_001256618.1|1|1),5_prime_UTR_variant(MODIFIER||6062|c.-220C>T|902|TUBGCP2|protein_coding|CODING|NM_006659.3|1|1),intron_variant(MODIFIER|||n.718+2617C>T||TUBGCP2||CODING|NR_046330.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4",,,,0.1524,0.2176,0.1511,,,,,,,,,,,,,,,,,,,
missense_variant,PRAP1,MISSENSE,NM_145202.4:p.His101Arg/c.302A>G,cAt/cGt,MODERATE,,0.992013,1,rs4369319,1(T),"0.0,0.0,0.0(B,B,B)",0.895(L),-0.9639(T),,chr10,135165790,135165790,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His92Arg/c.275A>G|142|PRAP1|protein_coding|CODING|NM_001145201.1|5|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His101Arg/c.302A>G|151|PRAP1|protein_coding|CODING|NM_145202.4|5|1)","K562:PolII,HepG2:PolII,GM12878:PolII",,,,1,0.9971,1,0.99,0.97,1.00,,0.046549(N),1.000(P),"1.63,1.62,1.62,1.67(T,T,T,T)",0.0000(T),0.022,-0.940685,2.87,-5.74,-2.613000,-2.364000,-3.928000,0.008000,0.000000,0.000000,6.3289
synonymous_variant,ECHS1,SILENT,NM_004092.3:p.Thr194Thr/c.582T>C,acT/acC,LOW,,0.947883,1,rs2230261,,,,,,chr10,135180430,135180430,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr194Thr/c.582T>C|290|ECHS1|protein_coding|CODING|NM_004092.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9741,0.999,0.94,0.83,1.00,,,,,,,,,,,,,,,,
missense_variant,ECHS1,MISSENSE,NM_004092.3:p.Thr75Ile/c.224C>T,aCc/aTc,MODERATE,,0.821286,0.9851,rs1049951,0.13(T),0.052(B),0.68(N),-0.9735(T),,chr10,135184126,135184126,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr75Ile/c.224C>T|290|ECHS1|protein_coding|CODING|NM_004092.3|2|1),downstream_gene_variant(MODIFIER||934|||MIR3944||NON_CODING|NR_037509.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9346,0.9135,0.9453,0.80,0.53,0.94,,0.480913(N),1.000(P),-0.31(T),0.0000(T),0.016,0.692430,5.76,3.82,-0.131000,1.460000,1.007000,0.007000,0.410000,0.756000,8.7834
missense_variant,PAOX,MISSENSE,NM_207128.2:p.Gln457Glu/c.1369C>G,Cag/Gag,MODERATE,COSM427291(1),0.845048,0.9792,rs1046175,0.18(T),,,-0.9502(T),,chr10,135204950,135204950,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln457Glu/c.1369C>G|486|PAOX|protein_coding|CODING|NM_207128.2|6|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro509Pro/c.1527C>G|511|PAOX|protein_coding|CODING|NM_152911.3|7|1),3_prime_UTR_variant(MODIFIER||2381|c.*138C>G|325|PAOX|protein_coding|CODING|NM_207127.2|5|1),non_coding_exon_variant(MODIFIER|||n.1354C>G||PAOX||CODING|NR_109763.1|6|1),non_coding_exon_variant(MODIFIER|||n.1208C>G||PAOX||CODING|NR_109764.1|7|1),non_coding_exon_variant(MODIFIER|||n.867C>G||PAOX||CODING|NR_109765.1|5|1),non_coding_exon_variant(MODIFIER|||n.709C>G||PAOX||CODING|NR_109766.1|4|1)","GM12878:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.865,0.8948,0.8738,0.83,0.74,0.88,,0.621810(N),1.000(P),,0.0000(T),.,-1.496625,4.26,2.32,-1.313000,0.097000,-1.219000,0.011000,0.007000,0.000000,7.5043
synonymous_variant,PAOX,SILENT,NM_207128.2:p.Pro476Pro/c.1428C>G,ccC/ccG,LOW,COSM4144548(1),0.845847,0.9812,rs1046178,,,,,,chr10,135205009,135205009,C,G,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro476Pro/c.1428C>G|486|PAOX|protein_coding|CODING|NM_207128.2|6|1),3_prime_UTR_variant(MODIFIER||2440|c.*197C>G|325|PAOX|protein_coding|CODING|NM_207127.2|5|1),3_prime_UTR_variant(MODIFIER||50|c.*50C>G|511|PAOX|protein_coding|CODING|NM_152911.3|7|1),non_coding_exon_variant(MODIFIER|||n.1413C>G||PAOX||CODING|NR_109763.1|6|1),non_coding_exon_variant(MODIFIER|||n.1267C>G||PAOX||CODING|NR_109764.1|7|1),non_coding_exon_variant(MODIFIER|||n.926C>G||PAOX||CODING|NR_109765.1|5|1),non_coding_exon_variant(MODIFIER|||n.768C>G||PAOX||CODING|NR_109766.1|4|1)","GM12878:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.865,0.8948,0.8777,0.83,0.74,0.88,,,,,,,,,,,,,,,,
missense_variant,MTG1,MISSENSE,NM_138384.2:p.Ile293Val/c.877A>G,Att/Gtt,MODERATE,COSM4144549(1),0.997204,1,rs2255246,1(T),"0.0,0.001(B,B)",-1.275(N),-0.9649(T),,chr10,135233541,135233541,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile293Val/c.877A>G|334|MTG1|protein_coding|CODING|NM_138384.2|11|1),downstream_gene_variant(MODIFIER||629||151|SPRN|protein_coding|CODING|NM_001012508.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.221092(N),1.000(P),"1.64,1.67,1.04(T,T,T)",0.0000(T),0.039,-2.079340,5.15,4.25,-0.935000,0.582000,0.789000,0.012000,0.015000,0.601000,8.0667
synonymous_variant,SPRN,SILENT,NM_001012508.3:p.Gly61Gly/c.183C>T,ggC/ggT,LOW,COSM4144550(1),0.30012,0.3343,rs4077586,,,,,,chr10,135237003,135237003,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly61Gly/c.183C>T|151|SPRN|protein_coding|CODING|NM_001012508.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:DNase1",,,,0.3139,0.3343,0.2306,,,,,,,,,,,,,,,,,,,
synonymous_variant,SPRN,SILENT,NM_001012508.3:p.Gly42Gly/c.126T>C,ggT/ggC,LOW,,0.98762,1,rs2480253,,,,,,chr10,135237060,135237060,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly42Gly/c.126T>C|151|SPRN|protein_coding|CODING|NM_001012508.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:DNase1",,,,1,0.9957,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,CYP2E1,SILENT,NM_000773.3:p.Ile321Ile/c.963T>C,atT/atC,LOW,,0.972843,1,rs915909,,,,,,chr10,135347397,135347397,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile321Ile/c.963T>C|493|CYP2E1|protein_coding|CODING|NM_000773.3|6|1),"K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,1,0.9942,1,0.97,0.90,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CYP2E1,SILENT,NM_000773.3:p.Phe421Phe/c.1263T>C,ttT/ttC,LOW,,0.700879,0.7946,rs2515641,,,,,,chr10,135351362,135351362,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe421Phe/c.1263T>C|493|CYP2E1|protein_coding|CODING|NM_000773.3|8|1),HepG2:H3K27me3,,,,0.8323,0.8213,0.8718,0.72,0.40,0.88,,,,,,,,,,,,,,,,
missense_variant,SYCE1,MISSENSE,NM_001143764.1:p.His321Arg/c.962A>G,cAc/cGc,MODERATE,COSM147095(1),0.154752,0.2698,rs3737031,0.11(T),0.005(B),0.895(L),-0.9196(T),,chr10,135368590,135368590,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His321Arg/c.962A>G|351|SYCE1|protein_coding|CODING|NM_001143764.1|13|1),intron_variant(MODIFIER|||c.918+265A>G|318|SYCE1|protein_coding|CODING|NM_001143763.1|12|1),intron_variant(MODIFIER|||c.810+265A>G|282|SYCE1|protein_coding|CODING|NM_130784.2|13|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.1715,0.1093,0.08,0.05,0.09,,0.044198(N),1.000(P),3.07(T),0.0000(T),0.072,0.294345,3.84,-0.0272,-0.364000,-0.003000,0.269000,0.001000,0.000000,0.001000,1.2555
missense_variant,SYCE1,MISSENSE,NM_001143764.1:p.Lys183Arg/c.548A>G,aAg/aGg,MODERATE,,0.197284,0.2698,rs3747881,0.93(T),"0.0,0.001,0.0(B,B,B)",-1.445(N),-1.0026(T),,chr10,135369532,135369532,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys183Arg/c.548A>G|318|SYCE1|protein_coding|CODING|NM_001143763.1|9|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys183Arg/c.548A>G|351|SYCE1|protein_coding|CODING|NM_001143764.1|9|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys147Arg/c.440A>G|282|SYCE1|protein_coding|CODING|NM_130784.2|10|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.1844,0.1093,0.12,0.16,0.09,,0.704037(N),1.000(P),"1.61,1.61,1.61,1.61(T,T,T,T)",0.0000(T),0.017,-0.737129,4.38,-3.92,-0.119000,-1.244000,-1.544000,0.017000,0.005000,0.001000,7.6589
synonymous_variant,SYCE1,SILENT,NM_001143764.1:p.Lys134Lys/c.402G>A,aaG/aaA,LOW,COSM147096(2),0.154752,0.2698,rs8181356,,,,,,chr10,135370633,135370633,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys134Lys/c.402G>A|318|SYCE1|protein_coding|CODING|NM_001143763.1|7|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys134Lys/c.402G>A|351|SYCE1|protein_coding|CODING|NM_001143764.1|7|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys98Lys/c.294G>A|282|SYCE1|protein_coding|CODING|NM_130784.2|8|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.1715,0.1093,0.08,0.06,0.09,,,,,,,,,,,,,,,,
missense_variant,SYCE1,MISSENSE,NM_001143764.1:p.Glu132Asp/c.396G>T,gaG/gaT,MODERATE,COSM147098(1),0.154752,0.2698,rs386616080,0.18(T),"0.016,0.027,0.016(B,B,B)",1.39(L),-0.9965(T),,chr10,135370639,135370639,C,A,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu132Asp/c.396G>T|318|SYCE1|protein_coding|CODING|NM_001143763.1|7|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu132Asp/c.396G>T|351|SYCE1|protein_coding|CODING|NM_001143764.1|7|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu96Asp/c.288G>T|282|SYCE1|protein_coding|CODING|NM_130784.2|8|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.1715,0.1093,0.08,0.06,0.10,,0.040858(N),0.000(P),"1.46,3.12,3.12,3.12(T,T,T,T)",0.0000(T),0.031,1.996834,4.3,0.217,0.655000,0.050000,-0.666000,0.873000,0.912000,0.154000,5.4635
synonymous_variant,FRG2B,SILENT,NM_001080998.1:p.Glu184Glu/c.552G>A,gaG/gaA,LOW,COSM4144552(1),,,rs112001328,,,,,,chr10,135438888,135438888,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu184Glu/c.552G>A|278|FRG2B|protein_coding|CODING|NM_001080998.1|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FRG2B,MISSENSE,NM_001080998.1:p.Ile171Leu/c.511A>C,Att/Ctt,MODERATE,COSM4144553(1),,,rs201901202,1(T),0.0(B),-0.11(N),-1.0105(T),,chr10,135438929,135438929,T,G,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile171Leu/c.511A>C|278|FRG2B|protein_coding|CODING|NM_001080998.1|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3",,,,,,,,,,,0.166920(N),1.000(N),"1.13,1.13(T,T)",0.0284(T),0.176,-3.142658,.,.,-1.884000,-1.839000,-0.690000,0.123000,0.122000,0.001000,.
synonymous_variant,FRG2B,SILENT,NM_001080998.1:p.Ala163Ala/c.489C>T,gcC/gcT,LOW,COSM4144554(1),,,rs200483318,,,,,,chr10,135438951,135438951,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala163Ala/c.489C>T|278|FRG2B|protein_coding|CODING|NM_001080998.1|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,RCV000068867.2,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FRG2B,MISSENSE,NM_001080998.1:p.Arg162Gln/c.485G>A,cGg/cAg,MODERATE,COSM4144555(2),,,rs201563622,0.17(T),0.002(B),0.805(L),-1.0307(T),,chr10,135438955,135438955,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg162Gln/c.485G>A|278|FRG2B|protein_coding|CODING|NM_001080998.1|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,RCV000068868.2,,,,,,,,,0.087405(N),1.000(N),"0.7,0.7(T,T)",0.0892(T),0.074,1.019099,.,.,0.121000,0.119000,-0.834000,0.162000,0.161000,0.004000,.
missense_variant,FRG2B,MISSENSE,NM_001080998.1:p.Arg158Gln/c.473G>A,cGg/cAg,MODERATE,COSM4144557(1),,,rs145018822,0.07(T),0.003(B),0.345(N),-1.0059(T),,chr10,135438967,135438967,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg158Gln/c.473G>A|278|FRG2B|protein_coding|CODING|NM_001080998.1|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,RCV000068869.2,,,,,,,,,0.316034(N),1.000(N),"0.51,0.51(T,T)",0.0882(T),0.057,0.292050,.,.,0.121000,0.119000,-2.060000,0.089000,0.088000,0.001000,.
missense_variant,FRG2B,MISSENSE,NM_001080998.1:p.Arg155Cys/c.463C>T,Cgc/Tgc,MODERATE,COSM4144558(1),,,rs79631365,0.1(T),0.432(B),0.695(N),-1.0672(T),,chr10,135438977,135438977,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg155Cys/c.463C>T|278|FRG2B|protein_coding|CODING|NM_001080998.1|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.019588(N),1.000(N),"0.67,0.67(T,T)",0.0000(T),0.12,0.222618,.,.,-1.713000,-1.702000,-0.845000,0.030000,0.030000,0.001000,.
missense_variant,LOC653486,MISSENSE,NM_001097610.2:p.Arg5Cys/c.13C>T,Cgt/Tgt,MODERATE,,0.266174,0.2411,rs7951297,0.17(T),0.0(B),,-0.9445(T),,chr11,193112,193112,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg5Cys/c.13C>T|95|LOC653486|protein_coding|CODING|NM_001097610.2|1|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg5Cys/c.13C>T|95|SCGB1C1|protein_coding|CODING|NM_145651.2|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,CD4:H4K20me1,NH-A:H3K27me3,CD4:H2BK5me1,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2986,0.2709,0.3569,0.27,0.18,0.32,,0.867318(N),1.000(N),1.9(T),0.0000(T),0.028,0.194586,3.86,-7.44,-0.555000,-1.580000,-1.404000,0.034000,0.000000,0.000000,1.826
synonymous_variant,LOC653486,SILENT,NM_001097610.2:p.Cys69Cys/c.207T>C,tgT/tgC,LOW,,0.750799,0.8383,rs2294081,,,,,,chr11,193863,193863,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys69Cys/c.207T>C|95|LOC653486|protein_coding|CODING|NM_001097610.2|2|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys69Cys/c.207T>C|95|SCGB1C1|protein_coding|CODING|NM_145651.2|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8047,0.7795,0.7008,0.60,0.59,0.61,,,,,,,,,,,,,,,,
missense_variant,LOC653486,MISSENSE,NM_001097610.2:p.Ile70Arg/c.209T>G,aTa/aGa,MODERATE,,0.493011,0.4812,rs2686894,0.03(D),0.776(P),,-0.8325(T),,chr11,193865,193865,T,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aGa|p.Ile70Arg/c.209T>G|95|LOC653486|protein_coding|CODING|NM_001097610.2|2|1),missense_variant(MODERATE|MISSENSE|aTa/aGa|p.Ile70Arg/c.209T>G|95|SCGB1C1|protein_coding|CODING|NM_145651.2|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.499,0.4942,0.4901,,,,,0.002216(N),1.000(D),2.48(T),0.0000(T),0.703,2.385500,5.11,3.96,0.454000,0.885000,2.284000,0.280000,0.826000,0.987000,8.1586
missense_variant,ODF3,MISSENSE,NM_053280.4:p.Ala220Thr/c.658G>A,Gcc/Acc,MODERATE,,0.0413339,0.0079,rs72878024,0.22(T),0.996(D),1.51(L),-1.1840(T),,chr11,199492,199492,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala220Thr/c.658G>A|254|ODF3|protein_coding|CODING|NM_053280.4|6|1),intron_variant(MODIFIER|||c.535-452G>A|207|ODF3|protein_coding|CODING|NM_001286136.1|5|1)","IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0429,0.0548,0.0805,0.06,0.05,0.07,,0.000164(D),1.000(D),1.21(T),0.0093(T),0.207,4.188959,5.41,5.41,0.561000,2.519000,4.443000,0.941000,1.000000,0.991000,14.6916
missense_variant,RIC8A,MISSENSE,NM_021932.5:p.His272Gln/c.816C>G,caC/caG,MODERATE,,0.00599042,0,rs34925440,0.33(T),"0.283,1.0,1.0(B,D,D)",1.615(L),-0.8777(T),,chr11,210660,210660,C,G,het,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His272Gln/c.816C>G|531|RIC8A|protein_coding|CODING|NM_001286134.1|4|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His272Gln/c.816C>G|537|RIC8A|protein_coding|CODING|NM_021932.5|4|1),splice_region_variant(LOW|||c.816C>G|531|RIC8A|protein_coding|CODING|NM_001286134.1|4|1),splice_region_variant(LOW|||c.816C>G|537|RIC8A|protein_coding|CODING|NM_021932.5|4|1),downstream_gene_variant(MODIFIER||1254|||MIR6743||NON_CODING|NR_106801.1||1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.0041,0.0144,0.0159,0.01,0.00,0.02,,0.000000(N),1.000(D),"0.97,0.97,0.97(T,T,T)",0.0938(T),0.288,3.038516,4.47,-5.57,-1.201000,-1.247000,-1.433000,0.678000,0.872000,0.002000,8.7496
missense_variant,SIRT3,MISSENSE,NM_012239.5:p.Val208Ile/c.622G>A,Gtc/Atc,MODERATE,,0.114816,0.0942,rs11246020,0.41(T),"0.013,0.001,0.001,0.003,0.001(B,B,B,B,B)",0.025(N),-0.9824(T),,chr11,233067,233067,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val66Ile/c.196G>A|257|SIRT3|protein_coding|CODING|NM_001017524.2|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val208Ile/c.622G>A|399|SIRT3|protein_coding|CODING|NM_012239.5|3|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1544,0.1484,0.2048,0.16,0.04,0.21,,0.154442(N),1.000(P),"2.31,2.31,2.31,2.31,2.31,2.31(T,T,T,T,T,T)",0.0000(T),0.505,-1.872500,5.37,-3.33,-0.810000,-0.565000,-0.858000,0.194000,0.000000,0.000000,1.3502
synonymous_variant,SIRT3,SILENT,NM_012239.5:p.Ser159Ser/c.477G>T,tcG/tcT,LOW,,0.115016,0.0942,rs11555236,,,,,,chr11,233212,233212,C,A,het,"synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser17Ser/c.51G>T|257|SIRT3|protein_coding|CODING|NM_001017524.2|3|1),synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser159Ser/c.477G>T|399|SIRT3|protein_coding|CODING|NM_012239.5|3|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1544,0.1484,0.2048,0.16,0.04,0.21,,,,,,,,,,,,,,,,
missense_variant,PSMD13,MISSENSE,NM_175932.2:p.Asn13Ser/c.38A>G,aAc/aGc,MODERATE,COSM3723238(4),0.817093,0.8075,rs1045288,1(T),"0.0,0.002(B,B)",-1.015(N),-0.9813(T),,chr11,237087,237087,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn13Ser/c.38A>G|376|PSMD13|protein_coding|CODING|NM_002817.3|1|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn13Ser/c.38A>G|378|PSMD13|protein_coding|CODING|NM_175932.2|1|1),upstream_gene_variant(MODIFIER||725||257|SIRT3|protein_coding|CODING|NM_001017524.2||1),upstream_gene_variant(MODIFIER||725||399|SIRT3|protein_coding|CODING|NM_012239.5||1)","NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.8047,0.83,0.7316,0.79,0.88,0.74,,0.000000(N),0.998(P),"2.34,2.36,2.56,2.35(T,T,T,T)",0.0000(T),0.01,0.115571,5.0,4.08,-0.226000,1.093000,3.321000,0.344000,1.000000,1.000000,9.8872
missense_variant,PSMD13,MISSENSE,NM_175932.2:p.Glu54Gly/c.161A>G,gAa/gGa,MODERATE,COSM3752299(2),0.815296,0.8036,rs10902112,,0.002(B),,-1.0308(T),,chr11,244106,244106,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu54Gly/c.161A>G|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),intron_variant(MODIFIER|||c.209+31A>G|376|PSMD13|protein_coding|CODING|NM_002817.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.76,0.86,0.71,,,1.000(P),2.25(T),0.0000(T),0.008,1.048578,5.94,-5.27,-1.783000,-1.087000,-0.330000,0.012000,0.000000,0.000000,1.0839
missense_variant,PSMD13,MISSENSE,NM_175932.2:p.Asn55Asp/c.163A>G,Aat/Gat,MODERATE,COSM3752300(1),0.815296,0.8036,rs7107362,,0.03(B),,-1.0441(T),,chr11,244108,244108,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn55Asp/c.163A>G|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),intron_variant(MODIFIER|||c.209+33A>G|376|PSMD13|protein_coding|CODING|NM_002817.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.76,0.86,0.71,,,1.000(P),2.35(T),0.0000(T),0.023,2.068678,5.94,-2.23,0.460000,-0.079000,-0.240000,0.008000,0.000000,0.000000,2.2649
missense_variant,PSMD13,MISSENSE,NM_175932.2:p.Cys57Tyr/c.170G>A,tGc/tAc,MODERATE,COSM85682(3),0.815296,0.8036,rs7128044,,0.0(B),,-1.0509(T),,chr11,244115,244115,G,A,hom,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys57Tyr/c.170G>A|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),intron_variant(MODIFIER|||c.209+40G>A|376|PSMD13|protein_coding|CODING|NM_002817.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.77,0.87,0.72,,,1.000(P),2.34(T),0.0000(T),0.015,0.020484,5.94,-5.49,-0.360000,-1.370000,-2.479000,0.000000,0.000000,0.000000,8.4842
missense_variant,PSMD13,MISSENSE,NM_175932.2:p.Arg62Trp/c.184C>T,Cgg/Tgg,MODERATE,,0.815296,0.8036,rs7116130,,0.0(B),,-1.0610(T),,chr11,244129,244129,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg62Trp/c.184C>T|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),intron_variant(MODIFIER|||c.210-32C>T|376|PSMD13|protein_coding|CODING|NM_002817.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.78,0.87,0.73,,,1.000(P),2.24(T),0.0000(T),0.039,1.574193,5.52,0.0511,-0.360000,-0.105000,0.163000,0.001000,0.000000,0.000000,6.1341
missense_variant,PSMD13,MISSENSE,NM_175932.2:p.Ala66Thr/c.196G>A,Gct/Act,MODERATE,COSM3998375(2),0.815296,0.8036,rs7128029,,0.0(B),,-1.0667(T),,chr11,244141,244141,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala66Thr/c.196G>A|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),intron_variant(MODIFIER|||c.210-20G>A|376|PSMD13|protein_coding|CODING|NM_002817.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.78,0.87,0.73,,,1.000(P),2.31(T),0.0000(T),0.011,1.718273,4.25,-8.5,-1.326000,-2.509000,-2.204000,0.007000,0.000000,0.000000,8.2539
synonymous_variant,PSMD13,SILENT,NM_175932.2:p.Asn74Asn/c.222C>T,aaC/aaT,LOW,COSM292492(5),0.815296,0.8036,rs1128320,,,,,,chr11,244167,244167,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn74Asn/c.222C>T|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn72Asn/c.216C>T|376|PSMD13|protein_coding|CODING|NM_002817.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.78,0.87,0.73,,,,,,,,,,,,,,,,
synonymous_variant,PSMD13,SILENT,NM_175932.2:p.Leu76Leu/c.226T>C,Ttg/Ctg,LOW,COSM3752301(2),0.815096,0.8026,rs1128321,,,,,,chr11,244171,244171,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu76Leu/c.226T>C|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu74Leu/c.220T>C|376|PSMD13|protein_coding|CODING|NM_002817.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.78,0.87,0.73,,,,,,,,,,,,,,,,
synonymous_variant,PSMD13,SILENT,NM_175932.2:p.His84His/c.252T>C,caT/caC,LOW,COSM3752303(1),0.815296,0.8036,rs1128322,,,,,,chr11,244197,244197,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His84His/c.252T>C|378|PSMD13|protein_coding|CODING|NM_175932.2|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His82His/c.246T>C|376|PSMD13|protein_coding|CODING|NM_002817.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.83,0.7306,0.79,0.88,0.74,,,,,,,,,,,,,,,,
missense_variant,NLRP6,MISSENSE,NM_138329.2:p.Met163Leu/c.487A>C,Atg/Ctg,MODERATE,COSM3752313(8),0.719848,0.2688,rs6421985,0.8(T),"0.0,0.0(B,B)",-0.895(N),-0.9784(T),,chr11,280221,280221,A,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met163Leu/c.487A>C|891|NLRP6|protein_coding|CODING|NM_001276700.1|4|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met163Leu/c.487A>C|892|NLRP6|protein_coding|CODING|NM_138329.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,HepG2:Nrsf,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,CD4:CTCF,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,HepG2:DNase1,K562:Nrsf,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,GM12878:Nrsf",,,,0.6994,0.8314,0.8787,0.90,0.92,0.90,,,1.000(P),"-0.69,-0.67(T,T)",0.0000(T),0.045,-2.099553,2.78,2.78,-0.345000,0.763000,1.164000,0.024000,0.008000,0.004000,9.2406
synonymous_variant,NLRP6,SILENT,NM_138329.2:p.Ser313Ser/c.939C>T,agC/agT,LOW,COSM4145640(1),0.48742,0.2579,rs12807092,,,,,,chr11,280673,280673,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser313Ser/c.939C>T|891|NLRP6|protein_coding|CODING|NM_001276700.1|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser313Ser/c.939C>T|892|NLRP6|protein_coding|CODING|NM_138329.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5828,0.7363,0.8032,0.75,0.53,0.86,,,,,,,,,,,,,,,,
missense_variant,NLRP6,MISSENSE,NM_138329.2:p.Tyr361Phe/c.1082A>T,tAt/tTt,MODERATE,COSM3931300(1),0.700879,0.2877,rs7482965,0.67(T),"0.001,0.0(B,B)",0.265(N),-0.9504(T),,chr11,280816,280816,A,T,hom,"missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr361Phe/c.1082A>T|891|NLRP6|protein_coding|CODING|NM_001276700.1|4|1),missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr361Phe/c.1082A>T|892|NLRP6|protein_coding|CODING|NM_138329.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H4K20me1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6984,0.8228,0.8807,0.67,0.61,0.70,,0.020819(N),1.000(P),"-1.22,-1.22(T,T)",0.0000(T),0.153,-1.108399,3.52,3.52,-0.545000,0.491000,-0.170000,0.273000,0.172000,0.002000,7.8048
synonymous_variant,NLRP6,SILENT,NM_138329.2:p.Tyr361Tyr/c.1083T>C,taT/taC,LOW,,0.700879,0.2877,rs7482279,,,,,,chr11,280817,280817,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr361Tyr/c.1083T>C|891|NLRP6|protein_coding|CODING|NM_001276700.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr361Tyr/c.1083T>C|892|NLRP6|protein_coding|CODING|NM_138329.2|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H4K20me1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6984,0.8228,0.8807,0.68,0.62,0.70,,,,,,,,,,,,,,,,
synonymous_variant,NLRP6,SILENT,NM_138329.2:p.Ala743Ala/c.2229G>A,gcG/gcA,LOW,COSM3752314(1),0.139177,0.1905,rs11246050,,,,,,chr11,284257,284257,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala742Ala/c.2226G>A|891|NLRP6|protein_coding|CODING|NM_001276700.1|6|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala743Ala/c.2229G>A|892|NLRP6|protein_coding|CODING|NM_138329.2|6|1)","K562:PolII,HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2147,0.1138,0.1551,0.13,0.07,0.16,,,,,,,,,,,,,,,,
synonymous_variant,NLRP6,SILENT,NM_138329.2:p.Pro812Pro/c.2436T>C,ccT/ccC,LOW,,0.547125,0.3274,rs6598047,,,,,,chr11,284538,284538,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro811Pro/c.2433T>C|891|NLRP6|protein_coding|CODING|NM_001276700.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro812Pro/c.2436T>C|892|NLRP6|protein_coding|CODING|NM_138329.2|7|1)","K562:PolII,HUVEC:DNase1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4335,0.6239,0.7674,0.71,0.65,0.74,,,,,,,,,,,,,,,,
synonymous_variant,ATHL1,SILENT,NM_025092.4:p.Ala203Ala/c.609A>G,gcA/gcG,LOW,COSM3752317(2),0.666534,0.4504,rs10902120,,,,,,chr11,290816,290816,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala203Ala/c.609A>G|737|ATHL1|protein_coding|CODING|NM_025092.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.7106,0.6816,0.7475,0.75,0.73,0.76,,,,,,,,,,,,,,,,
missense_variant,IFITM2,MISSENSE,NM_006435.2:p.Val33Ala/c.98T>C,gTg/gCg,MODERATE,COSM3752321(1),0.864417,0.997,rs1058900,1(T),0.001(B),-1.035(N),-0.9865(T),,chr11,308290,308290,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val33Ala/c.98T>C|132|IFITM2|protein_coding|CODING|NM_006435.2|1|1),"GM12878:Cmyc,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H2AK5ac,GM12878:ZEB1,K562:Gabp,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,CD4:PolII,CD4:H3K4me2,IMR90:H3K18ac,HeLa-S3:H3K4me3,HepG2:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.9335,0.7968,0.5805,0.69,0.90,0.59,,0.229959(N),1.000(P),"-1.12,-0.85(T,T)",0.0000(T),0.023,-0.956047,2.63,-3.19,-0.642000,-1.514000,-3.962000,0.090000,0.000000,0.000000,4.1693
missense_variant,IFITM2,MISSENSE,NM_006435.2:p.Met41Thr/c.122T>C,aTg/aCg,MODERATE,COSM1561439(1),0.705072,0.9593,rs14408,1(T),0.0(B),-3.02(N),-0.9247(T),,chr11,308314,308314,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met41Thr/c.122T>C|132|IFITM2|protein_coding|CODING|NM_006435.2|1|1),"GM12878:Cmyc,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K14ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,GM12878:ZEB1,K562:Gabp,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H3K4ac,CD4:PolII,CD4:H3K4me2,IMR90:H3K18ac,HeLa-S3:H3K4me3,HepG2:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Tcf12",,,,0.7301,0.6657,0.3787,0.45,0.64,0.36,,0.673694(N),1.000(P),"-1.04,-0.8(T,T)",0.0000(T),0.014,-2.266536,2.59,-2.76,-3.056000,-0.998000,-2.620000,0.028000,0.000000,0.000000,3.407
synonymous_variant,IFITM2,SILENT,NM_006435.2:p.Pro54Pro/c.162T>C,ccT/ccC,LOW,,,,rs17174550,,,,,,chr11,308354,308354,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro54Pro/c.162T>C|132|IFITM2|protein_coding|CODING|NM_006435.2|1|1),"GM12878:Cmyc,NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K14ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,GM12878:ZEB1,K562:Gabp,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,CD4:H3K4me2,IMR90:H3K18ac,HeLa-S3:H3K4me3,HepG2:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Tcf12",,,,,,,0.03,0.03,0.03,,,,,,,,,,,,,,,,
synonymous_variant,IFITM2,SILENT,NM_006435.2:p.Val57Val/c.171G>C,gtG/gtC,LOW,COSM4145650(1),0.841853,0.997,rs1058935,,,,,,chr11,308363,308363,G,C,hom,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val57Val/c.171G>C|132|IFITM2|protein_coding|CODING|NM_006435.2|1|1),"GM12878:Cmyc,NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K14ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,GM12878:ZEB1,K562:Gabp,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,CD4:H3K4me2,IMR90:H3K18ac,HeLa-S3:H3K4me3,HepG2:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Tcf12",,,,0.8742,0.7839,0.5388,0.64,0.88,0.53,,,,,,,,,,,,,,,,
synonymous_variant,IFITM2,SILENT,NM_006435.2:p.Ala78Ala/c.234G>C,gcG/gcC,LOW,COSM3752322(2),0.836262,0.997,rs1058964,,,,-1.0215(T),,chr11,308426,308426,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala78Ala/c.234G>C|132|IFITM2|protein_coding|CODING|NM_006435.2|1|1),"GM12878:Cmyc,NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,IMR90:H3K14ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H2AK5ac,IMR90:H3K4ac,GM12878:ZEB1,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Tcf12",,,,0.8742,0.7752,0.5278,0.63,0.87,0.52,,,0.000(P),,0.0000(T),.,-0.289265,2.59,2.59,-0.671000,0.438000,2.040000,0.112000,0.671000,0.987000,7.4609
missense_variant,IFITM2,MISSENSE,NM_006435.2:p.Ile121Val/c.361A>G,Atc/Gtc,MODERATE,,0.540535,0.6944,rs1059091,0(D),,2.115(M),-0.9474(T),,chr11,309127,309127,A,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile121Val/c.361A>G|132|IFITM2|protein_coding|CODING|NM_006435.2|2|1),"K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,CD4:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.5798,0.4553,0.332,0.40,0.55,0.33,,0.982712(N),1.000(P),,0.0000(T),.,0.837569,2.35,-3.77,-2.523000,-1.307000,-0.264000,0.004000,0.000000,0.000000,4.3203
missense_variant,IFITM1,MISSENSE,NM_003641.3:p.Pro13Ala/c.37C>G,Cca/Gca,MODERATE,,1,1,rs9667990,1(T),0.0(B),-2.43(N),-0.9663(T),,chr11,314207,314207,C,G,hom,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro13Ala/c.37C>G|125|IFITM1|protein_coding|CODING|NM_003641.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HeLa-S3:H3K79me2,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,K562:GTF2B,K562:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NHEK:H3K27me3,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,NHEK:H3K4me2,IMR90:H3K18ac,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,0.355791(N),1.000(P),"-1.16,-1.16,-1.16(T,T,T)",0.0000(T),0.104,-1.376589,2.96,2.02,-0.980000,0.592000,0.320000,0.031000,0.310000,0.000000,3.7956
missense_variant,B4GALNT4,MISSENSE,NM_178537.4:p.Phe426Tyr/c.1277T>A,tTc/tAc,MODERATE,COSM116183(1),0.00858626,0,rs149045708,0.6(T),0.677(P),1.795(L),-0.9808(T),,chr11,376331,376331,T,A,het,missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe426Tyr/c.1277T>A|1039|B4GALNT4|protein_coding|CODING|NM_178537.4|13|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0072,0.013,0.0249,0.03,0.01,0.04,,0.196070(N),0.503(N),3.27(T),0.0096(T),0.219,2.849805,3.36,2.24,0.352000,1.473000,2.721000,0.861000,1.000000,1.000000,6.775
synonymous_variant,PKP3,SILENT,NM_007183.2:p.Asn138Asn/c.414C>T,aaC/aaT,LOW,COSM3752360(2),0.446885,0.4296,rs12419281,,,,,,chr11,396915,396915,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn138Asn/c.414C>T|797|PKP3|protein_coding|CODING|NM_007183.2|3|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K4me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1",,,,0.5501,0.4784,0.5467,0.48,0.34,0.55,,,,,,,,,,,,,,,,
synonymous_variant,PKP3,SILENT,NM_007183.2:p.Thr449Thr/c.1347A>G,acA/acG,LOW,COSM3765565(1),0.223243,0.1617,rs1128982,,,,,,chr11,400040,400040,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr449Thr/c.1347A>G|797|PKP3|protein_coding|CODING|NM_007183.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K36me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.2413,0.2622,0.1531,0.19,0.27,0.15,,,,,,,,,,,,,,,,
synonymous_variant,PKP3,SILENT,NM_007183.2:p.Ala472Ala/c.1416A>G,gcA/gcG,LOW,COSM3752361(3),0.897364,0.998,rs8858,,,,,,chr11,400109,400109,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala472Ala/c.1416A>G|797|PKP3|protein_coding|CODING|NM_007183.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.9448,0.7421,0.7475,0.80,0.94,0.72,,,,,,,,,,,,,,,,
synonymous_variant,PKP3,SILENT,NM_007183.2:p.Pro705Pro/c.2115G>A,ccG/ccA,LOW,COSM4145690(1),0.510982,0.3651,rs11748,,,,,,chr11,403980,403980,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro705Pro/c.2115G>A|797|PKP3|protein_coding|CODING|NM_007183.2|11|1),downstream_gene_variant(MODIFIER||1736||410|SIGIRR|protein_coding|CODING|NM_001135053.1||1),downstream_gene_variant(MODIFIER||1736||410|SIGIRR|protein_coding|CODING|NM_001135054.1||1),downstream_gene_variant(MODIFIER||1736||410|SIGIRR|protein_coding|CODING|NM_021805.2||1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5286,0.6066,0.5606,0.55,0.53,0.56,,,,,,,,,,,,,,,,
synonymous_variant,PKP3,SILENT,NM_007183.2:p.Phe784Phe/c.2352C>T,ttC/ttT,LOW,COSM4145691(2),0.451478,0.3542,rs1134578,,,,-0.8872(T),,chr11,404317,404317,C,T,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe784Phe/c.2352C>T|797|PKP3|protein_coding|CODING|NM_007183.2|12|1),downstream_gene_variant(MODIFIER||1399||410|SIGIRR|protein_coding|CODING|NM_001135053.1||1),downstream_gene_variant(MODIFIER||1399||410|SIGIRR|protein_coding|CODING|NM_001135054.1||1),downstream_gene_variant(MODIFIER||1399||410|SIGIRR|protein_coding|CODING|NM_021805.2||1)","H1ESC:H3K36me3,CD4:H4K91ac,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5286,0.5893,0.5586,0.49,0.37,0.56,,,0.000(P),,0.0000(T),.,0.760279,4.28,3.36,0.313000,0.931000,2.547000,0.535000,1.000000,1.000000,9.5666
synonymous_variant,SIGIRR,SILENT,NM_001135053.1:p.Val362Val/c.1086C>T,gtC/gtT,LOW,COSM4145695(1),0.906749,0.998,rs7947,0.9(T),0.015(B),,-0.9836(T),,chr11,406043,406043,G,A,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val362Val/c.1086C>T|410|SIGIRR|protein_coding|CODING|NM_001135053.1|10|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val362Val/c.1086C>T|410|SIGIRR|protein_coding|CODING|NM_001135054.1|10|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val362Val/c.1086C>T|410|SIGIRR|protein_coding|CODING|NM_021805.2|10|1),downstream_gene_variant(MODIFIER||1135||797|PKP3|protein_coding|CODING|NM_007183.2||1)","H1ESC:H3K36me3,K562:PolII,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3",,,,0.9509,0.8919,0.7783,0.80,0.89,0.76,,,0.000(P),"3.6,3.6(T,T)",0.0000(T),.,1.798758,3.54,3.54,0.485000,1.721000,1.078000,0.355000,0.999000,1.000000,8.4824
synonymous_variant,SIGIRR,SILENT,NM_001135053.1:p.Pro315Pro/c.945T>G,ccT/ccG,LOW,,0.907149,0.998,rs3087588,,,,-1.0310(T),,chr11,406473,406473,A,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro315Pro/c.945T>G|410|SIGIRR|protein_coding|CODING|NM_001135053.1|9|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro315Pro/c.945T>G|410|SIGIRR|protein_coding|CODING|NM_001135054.1|9|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro315Pro/c.945T>G|410|SIGIRR|protein_coding|CODING|NM_021805.2|9|1),downstream_gene_variant(MODIFIER||1565||797|PKP3|protein_coding|CODING|NM_007183.2||1)","H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,HUVEC:H3K4me3,CD4:H4K91ac,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,NHEK:H3K36me3",,,,0.9509,0.8919,0.7783,0.81,0.89,0.76,,,1.000(P),,0.0000(T),.,0.270359,3.01,-6.01,-3.058000,-2.206000,-3.243000,0.009000,0.000000,0.000000,0.384
missense_variant,SIGIRR,MISSENSE,NM_001135053.1:p.Gln312Arg/c.935A>G,cAg/cGg,MODERATE,COSM4145697(1),0.927117,0.998,rs3210908,0.88(T),"0.001,0.0(B,B)",0.805(L),-1.0291(T),,chr11,406483,406483,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln312Arg/c.935A>G|410|SIGIRR|protein_coding|CODING|NM_001135053.1|9|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln312Arg/c.935A>G|410|SIGIRR|protein_coding|CODING|NM_001135054.1|9|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln312Arg/c.935A>G|410|SIGIRR|protein_coding|CODING|NM_021805.2|9|1),downstream_gene_variant(MODIFIER||1575||797|PKP3|protein_coding|CODING|NM_007183.2||1)","H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,HUVEC:H3K4me3,CD4:H4K91ac,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,NHEK:H3K36me3",,,,0.9509,0.8977,0.7793,0.82,0.95,0.76,,0.351404(N),1.000(P),"4.14,4.14,4.14,4.06,4.06(T,T,T,T,T)",0.0000(T),0.152,-1.498761,3.01,-2.77,-2.680000,-1.273000,-0.395000,0.001000,0.145000,0.001000,7.6336
missense_variant,ANO9,MISSENSE,NM_001012302.2:p.Cys399Arg/c.1195T>C,Tgc/Cgc,MODERATE,COSM1561410(1),0.921725,0.996,rs10794323,0.68(T),"0.002,0.001(B,B)",-0.46(N),-0.9818(T),,chr11,428385,428385,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys399Arg/c.1195T>C|782|ANO9|protein_coding|CODING|NM_001012302.2|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9703,0.7464,0.832,0.85,0.96,0.79,,0.001795(N),1.000(P),0.11(T),0.0000(T),0.061,-0.607879,4.43,-8.87,-4.222000,-2.020000,-2.497000,0.000000,0.000000,0.000000,2.2513
missense_variant,ANO9,MISSENSE,NM_001012302.2:p.Ile391Val/c.1171A>G,Atc/Gtc,MODERATE,,0.91893,0.997,rs10794324,0.26(T),"0.002,0.001(B,B)",-0.67(N),-0.9639(T),,chr11,428489,428489,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile391Val/c.1171A>G|782|ANO9|protein_coding|CODING|NM_001012302.2|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.7478,0.8161,0.83,0.96,0.77,,0.040096(N),1.000(P),0.0(T),0.0000(T),0.023,-1.877490,4.25,-3.98,-3.846000,-1.872000,-0.217000,0.004000,0.017000,0.000000,2.877
missense_variant,ANO9,MISSENSE,NM_001012302.2:p.Phe93Leu/c.277T>C,Ttc/Ctc,MODERATE,COSM4145701(2),1,1,rs7395065,1(T),0.0(B),-1.04(N),-0.9258(T),,chr11,433387,433387,A,G,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe93Leu/c.277T>C|782|ANO9|protein_coding|CODING|NM_001012302.2|4|1),"H1ESC:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000123(N),1.000(P),0.42(T),0.0000(T),0.174,-0.858820,4.08,4.08,-0.372000,1.050000,3.606000,0.056000,0.687000,0.988000,8.5364
missense_variant,PTDSS2,MISSENSE,NM_030783.1:p.Ala423Val/c.1268C>T,gCg/gTg,MODERATE,,0.047524,0.001,rs61742833,0.62(T),0.0(B),-0.55(N),-1.0065(T),,chr11,490035,490035,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala423Val/c.1268C>T|487|PTDSS2|protein_coding|CODING|NM_030783.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.1974,0.0726,0.07,0.02,0.10,,0.000433(N),1.000(P),,0.0001(T),0.043,0.544199,3.74,2.6,-0.361000,0.177000,3.134000,0.986000,1.000000,1.000000,8.089
synonymous_variant,RNH1,SILENT,NM_002939.3:p.Ala413Ala/c.1239C>G,gcC/gcG,LOW,COSM1746290(1),0.332867,0.1865,rs7983,,,,,,chr11,494942,494942,G,C,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_002939.3|10|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_203383.1|10|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_203384.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_203385.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_203386.2|10|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_203387.2|10|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_203388.2|9|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala413Ala/c.1239C>G|461|RNH1|protein_coding|CODING|NM_203389.2|9|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HSMM:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2209,0.366,0.3101,0.38,0.50,0.31,,,,,,,,,,,,,,,,
missense_variant,RNH1,MISSENSE,NM_002939.3:p.Pro170Leu/c.509C>T,cCg/cTg,MODERATE,,0.0872604,0.003,rs17585,0.08(T),0.002(B),1.905(M),-1.0566(T),,chr11,499120,499120,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_002939.3|6|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_203383.1|6|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_203384.1|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_203385.1|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_203386.2|6|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_203387.2|6|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_203388.2|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro170Leu/c.509C>T|461|RNH1|protein_coding|CODING|NM_203389.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1401,0.0879,0.1352,0.12,0.09,0.14,,0.101387(N),1.000(P),"1.03,1.03,1.03,1.03,1.03,1.03,1.03,1.03,1.03,1.03,0.55(T,T,T,T,T,T,T,T,T,T,T)",0.0013(T),0.337,2.788088,3.7,-2.59,0.478000,-0.238000,-0.054000,0.993000,0.000000,0.000000,1.3186
synonymous_variant,HRAS,SILENT,NM_001130442.1:p.His27His/c.81T>C,caT/caC,LOW,COSM3752426(3),0.297125,0.1726,rs12628,,,,,,chr11,534242,534242,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His27His/c.81T>C|189|HRAS|protein_coding|CODING|NM_001130442.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His27His/c.81T>C|189|HRAS|protein_coding|CODING|NM_005343.2|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His27His/c.81T>C|170|HRAS|protein_coding|CODING|NM_176795.3|2|1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,RCV000038468.2,,0.2597,0.3646,0.3121,0.35,0.37,0.34,,,,,,,,,,,,,,,,
synonymous_variant,LRRC56,SILENT,NM_198075.3:p.Leu128Leu/c.384C>T,ctC/ctT,LOW,COSM3765570(1),0.78115,0.9196,rs7942030,,,,,,chr11,549959,549959,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu128Leu/c.384C>T|542|LRRC56|protein_coding|CODING|NM_198075.3|7|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.773,0.8415,0.8201,0.76,0.65,0.82,,,,,,,,,,,,,,,,
synonymous_variant,LRRC56,SILENT,NM_198075.3:p.Pro243Pro/c.729G>A,ccG/ccA,LOW,COSM4145812(2),0.151358,0.0188,rs35537971,,,,,,chr11,551235,551235,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro243Pro/c.729G>A|542|LRRC56|protein_coding|CODING|NM_198075.3|9|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.0818,0.2435,0.1879,0.19,0.21,0.19,,,,,,,,,,,,,,,,
missense_variant,LRRC56,MISSENSE,NM_198075.3:p.Arg300His/c.899G>A,cGt/cAt,MODERATE,COSM4145813(1),0.647364,0.873,rs4963198,0.53(T),0.0(B),0(N),-1.0649(T),,chr11,551753,551753,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg300His/c.899G>A|542|LRRC56|protein_coding|CODING|NM_198075.3|10|1),"H1ESC:H3K36me3,K562:CTCF,HepG2:H3K27me3,K562:DNase1",,,,0.6892,0.6369,0.664,0.58,0.46,0.63,,0.010654(N),1.000(P),2.97(T),0.0000(T),0.026,0.201951,4.14,3.21,-1.421000,0.425000,0.171000,0.023000,0.127000,0.000000,6.9955
missense_variant,LRRC56,MISSENSE,NM_198075.3:p.Arg467Gln/c.1400G>A,cGg/cAg,MODERATE,,0.160543,0.0476,rs12793222,0.44(T),0.138(B),0.345(N),-0.9036(T),,chr11,554047,554047,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg467Gln/c.1400G>A|542|LRRC56|protein_coding|CODING|NM_198075.3|14|1),downstream_gene_variant(MODIFIER||803||634|LMNTD2|protein_coding|CODING|NM_173573.2||1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:DNase1",,,,0.0798,0.2522,0.1918,0.22,0.24,0.22,,,1.000(P),3.01(T),0.0000(T),0.024,1.419586,3.14,2.23,0.561000,0.897000,0.300000,0.004000,0.008000,0.101000,6.2194
missense_variant,LRRC56,MISSENSE,NM_198075.3:p.Arg507Gly/c.1519C>G,Cgc/Ggc,MODERATE,COSM4145815(2),0.79393,0.874,rs10902170,1(T),0.0(B),-0.805(N),-1.0099(T),,chr11,554166,554166,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg507Gly/c.1519C>G|542|LRRC56|protein_coding|CODING|NM_198075.3|14|1),downstream_gene_variant(MODIFIER||684||634|LMNTD2|protein_coding|CODING|NM_173573.2||1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:DNase1",,,,0.7331,0.8718,0.829,0.79,0.72,0.82,,0.831100(N),1.000(P),3.21(T),0.0000(T),0.006,-2.978478,3.75,-1.47,-2.022000,-0.556000,0.149000,0.001000,0.000000,0.000000,5.0622
missense_variant,LRRC56,MISSENSE,NM_198075.3:p.Asp523His/c.1567G>C,Gat/Cat,MODERATE,COSM3765571(2),0.791534,0.873,rs10902171,0.16(T),0.615(P),0.805(L),-1.0974(T),,chr11,554214,554214,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp523His/c.1567G>C|542|LRRC56|protein_coding|CODING|NM_198075.3|14|1),downstream_gene_variant(MODIFIER||636||634|LMNTD2|protein_coding|CODING|NM_173573.2||1)","HUVEC:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7434,0.853,0.827,0.78,0.71,0.82,,0.456625(N),1.000(P),2.85(T),0.0000(T),0.075,2.235403,3.43,2.51,0.561000,1.030000,1.982000,0.116000,0.001000,0.025000,6.7657
synonymous_variant,LMNTD2,SILENT,NM_173573.2:p.Pro348Pro/c.1044G>C,ccG/ccC,LOW,,0.846046,0.9067,rs28406183,,,,,,chr11,556521,556521,C,G,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro348Pro/c.1044G>C|634|LMNTD2|protein_coding|CODING|NM_173573.2|9|1),downstream_gene_variant(MODIFIER||1605||542|LRRC56|protein_coding|CODING|NM_198075.3||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8783,0.9438,0.9433,0.86,0.71,0.94,,,,,,,,,,,,,,,,
synonymous_variant,LMNTD2,SILENT,NM_173573.2:p.Gly318Gly/c.954C>G,ggC/ggG,LOW,COSM4145820(1),0.878195,0.9067,rs7938269,,,,,,chr11,556857,556857,G,C,hom,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly318Gly/c.954C>G|634|LMNTD2|protein_coding|CODING|NM_173573.2|8|1),downstream_gene_variant(MODIFIER||1941||542|LRRC56|protein_coding|CODING|NM_198075.3||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8773,0.9568,0.9443,0.90,0.81,0.94,,,,,,,,,,,,,,,,
synonymous_variant,LMNTD2,SILENT,NM_173573.2:p.Gln150Gln/c.450G>A,caG/caA,LOW,COSM4145822(3),0.471845,0.6696,rs7129811,,,,,,chr11,557989,557989,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln150Gln/c.450G>A|634|LMNTD2|protein_coding|CODING|NM_173573.2|5|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.6196,0.4366,0.5746,0.44,0.22,0.56,,,,,,,,,,,,,,,,
missense_variant,LMNTD2,MISSENSE,NM_173573.2:p.Ala44Thr/c.130G>A,Gca/Aca,MODERATE,COSM4145823(1),0.758187,0.8591,rs2061586,1(T),0.0(B),-0.805(N),-0.9511(T),,chr11,558884,558884,C,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala44Thr/c.130G>A|634|LMNTD2|protein_coding|CODING|NM_173573.2|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3",,,,0.7853,0.8516,0.8211,0.75,0.60,0.83,,0.598948(N),1.000(P),"0.97,0.95,0.96(T,T,T)",0.0000(T),0.212,-0.322116,3.69,-7.0,-1.327000,-1.451000,-1.152000,0.000000,0.000000,0.000000,0.247
synonymous_variant,RASSF7,SILENT,NM_003475.3:p.Arg161Arg/c.483G>A,agG/agA,LOW,,0.15655,0.0188,rs11246189,,,,,,chr11,562437,562437,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg161Arg/c.483G>A|337|RASSF7|protein_coding|CODING|NM_001143993.1|3|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg161Arg/c.483G>A|320|RASSF7|protein_coding|CODING|NM_001143994.1|3|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg161Arg/c.483G>A|373|RASSF7|protein_coding|CODING|NM_003475.3|3|1),upstream_gene_variant(MODIFIER||1658||634|LMNTD2|protein_coding|CODING|NM_173573.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.2478,0.1948,0.21,0.23,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PHRF1,SILENT,NM_001286581.1:p.Ala127Ala/c.381C>A,gcC/gcA,LOW,COSM3998492(1),0.164137,0.0198,rs12800061,,,,,,chr11,587425,587425,C,A,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala127Ala/c.381C>A|1649|PHRF1|protein_coding|CODING|NM_001286581.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala126Ala/c.378C>A|1647|PHRF1|protein_coding|CODING|NM_001286582.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala123Ala/c.369C>A|1645|PHRF1|protein_coding|CODING|NM_001286583.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala127Ala/c.381C>A|1648|PHRF1|protein_coding|CODING|NM_020901.3|4|1)","H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0869,0.245,0.2147,0.24,0.25,0.24,,,,,,,,,,,,,,,,
synonymous_variant,PHRF1,SILENT,NM_001286581.1:p.Pro573Pro/c.1719G>A,ccG/ccA,LOW,COSM429377(2),0.131589,0.0179,rs936468,,,,,,chr11,607175,607175,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro573Pro/c.1719G>A|1649|PHRF1|protein_coding|CODING|NM_001286581.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro571Pro/c.1713G>A|1647|PHRF1|protein_coding|CODING|NM_001286582.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro569Pro/c.1707G>A|1645|PHRF1|protein_coding|CODING|NM_001286583.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro572Pro/c.1716G>A|1648|PHRF1|protein_coding|CODING|NM_020901.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.2305,0.2048,0.21,0.17,0.23,,,,,,,,,,,,,,,,
synonymous_variant,PHRF1,SILENT,NM_001286581.1:p.Ala1204Ala/c.3612G>A,gcG/gcA,LOW,COSM429391(4),0.1877,0.0198,rs7928902,,,,,,chr11,609068,609068,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1204Ala/c.3612G>A|1649|PHRF1|protein_coding|CODING|NM_001286581.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1202Ala/c.3606G>A|1647|PHRF1|protein_coding|CODING|NM_001286582.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1200Ala/c.3600G>A|1645|PHRF1|protein_coding|CODING|NM_001286583.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1203Ala/c.3609G>A|1648|PHRF1|protein_coding|CODING|NM_020901.3|14|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0869,0.2522,0.2147,0.26,0.31,0.24,,,,,,,,,,,,,,,,
synonymous_variant,PHRF1,SILENT,NM_001286581.1:p.Pro1299Pro/c.3897G>A,ccG/ccA,LOW,COSM3998511(2),0.186901,0.0198,rs11539530,,,,,,chr11,609353,609353,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1299Pro/c.3897G>A|1649|PHRF1|protein_coding|CODING|NM_001286581.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1297Pro/c.3891G>A|1647|PHRF1|protein_coding|CODING|NM_001286582.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1295Pro/c.3885G>A|1645|PHRF1|protein_coding|CODING|NM_001286583.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1298Pro/c.3894G>A|1648|PHRF1|protein_coding|CODING|NM_020901.3|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0838,0.2507,0.2147,0.26,0.32,0.24,,,,,,,,,,,,,,,,
missense_variant,PHRF1,MISSENSE,NM_001286581.1:p.Val1449Ala/c.4346T>C,gTg/gCg,MODERATE,COSM4145963(1),0.803714,0.7679,rs11246212,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.46(N),-0.9949(T),,chr11,610277,610277,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1449Ala/c.4346T>C|1649|PHRF1|protein_coding|CODING|NM_001286581.1|15|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1447Ala/c.4340T>C|1647|PHRF1|protein_coding|CODING|NM_001286582.1|15|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1445Ala/c.4334T>C|1645|PHRF1|protein_coding|CODING|NM_001286583.1|15|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1448Ala/c.4343T>C|1648|PHRF1|protein_coding|CODING|NM_020901.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8067,0.7867,0.8748,0.86,0.82,0.89,,0.472118(N),1.000(P),"-1.15,-1.15,-1.15,-1.15(T,T,T,T)",0.0000(T),0.024,-1.051116,4.44,-4.9,-1.987000,-1.375000,-0.528000,0.000000,0.000000,0.000000,3.8427
missense_variant,IRF7,MISSENSE,NM_004031.2:p.Gln425Arg/c.1274A>G,cAa/cGa,MODERATE,COSM4145976(1),0.275559,0.0208,rs1131665,0.79(T),"0.002,0.003,0.001,0.001(B,B,B,B)",-0.32(N),-1.0209(T),,chr11,613208,613208,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln412Arg/c.1235A>G|503|IRF7|protein_coding|CODING|NM_001572.3|9|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln383Arg/c.1148A>G|474|IRF7|protein_coding|CODING|NM_004029.2|8|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln425Arg/c.1274A>G|516|IRF7|protein_coding|CODING|NM_004031.2|7|1),splice_region_variant(LOW|||c.1235A>G|503|IRF7|protein_coding|CODING|NM_001572.3|9|1),splice_region_variant(LOW|||c.1148A>G|474|IRF7|protein_coding|CODING|NM_004029.2|8|1),splice_region_variant(LOW|||c.1274A>G|516|IRF7|protein_coding|CODING|NM_004031.2|7|1),downstream_gene_variant(MODIFIER||986||1649|PHRF1|protein_coding|CODING|NM_001286581.1||1),downstream_gene_variant(MODIFIER||986||1647|PHRF1|protein_coding|CODING|NM_001286582.1||1),downstream_gene_variant(MODIFIER||986||1645|PHRF1|protein_coding|CODING|NM_001286583.1||1),downstream_gene_variant(MODIFIER||986||1648|PHRF1|protein_coding|CODING|NM_020901.3||1)","H1ESC:H3K36me3,K562:PolII,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3,GM06990:DNase1,CD4:H2BK12ac",,,,0.1094,0.3026,0.2674,0.36,0.51,0.29,,0.270772(N),1.000(P),"-3.28,-3.28,-3.28,-3.28,-3.28,-3.28,-3.28(D,D,D,D,D,D,D)",0.0000(T),0.04,-2.738933,4.11,-5.89,-3.263000,-1.746000,-0.583000,0.009000,0.073000,0.158000,12.6541
synonymous_variant,IRF7,SILENT,NM_004031.2:p.Gly395Gly/c.1185A>C,ggA/ggC,LOW,,0.298522,0.0466,rs1061505,,,,,,chr11,613297,613297,T,G,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly382Gly/c.1146A>C|503|IRF7|protein_coding|CODING|NM_001572.3|9|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly353Gly/c.1059A>C|474|IRF7|protein_coding|CODING|NM_004029.2|8|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly395Gly/c.1185A>C|516|IRF7|protein_coding|CODING|NM_004031.2|7|1),downstream_gene_variant(MODIFIER||1075||1649|PHRF1|protein_coding|CODING|NM_001286581.1||1),downstream_gene_variant(MODIFIER||1075||1647|PHRF1|protein_coding|CODING|NM_001286582.1||1),downstream_gene_variant(MODIFIER||1075||1645|PHRF1|protein_coding|CODING|NM_001286583.1||1),downstream_gene_variant(MODIFIER||1075||1648|PHRF1|protein_coding|CODING|NM_020901.3||1)","H1ESC:H3K36me3,K562:PolII,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.1636,0.3285,0.2793,0.34,0.49,0.27,,,,,,,,,,,,,,,,
missense_variant,IRF7,MISSENSE,NM_004031.2:p.Lys192Glu/c.574A>G,Aag/Gag,MODERATE,COSM3722187(1),0.275559,0.0208,rs1061502,1(T),"0.0,0.0,0.0,0.001(B,B,B,B)",0(N),-1.0314(T),,chr11,614318,614318,T,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys179Glu/c.535A>G|503|IRF7|protein_coding|CODING|NM_001572.3|6|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys179Glu/c.535A>G|474|IRF7|protein_coding|CODING|NM_004029.2|6|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys192Glu/c.574A>G|516|IRF7|protein_coding|CODING|NM_004031.2|4|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.1094,0.3026,0.2674,0.37,0.52,0.29,,,1.000(P),"-2.89,-3.8,-3.8,-3.75,-3.8,-3.75(D,D,D,D,D,D)",0.0000(T),0.072,-1.918807,2.6,-5.21,-1.524000,-2.239000,-1.728000,0.001000,0.000000,0.000000,3.7732
synonymous_variant,IRF7,SILENT,NM_004031.2:p.Arg122Arg/c.366G>A,cgG/cgA,LOW,COSM3752553(2),0.816693,0.749,rs1061501,,,,,,chr11,614864,614864,C,T,hom,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg109Arg/c.327G>A|503|IRF7|protein_coding|CODING|NM_001572.3|4|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg109Arg/c.327G>A|474|IRF7|protein_coding|CODING|NM_004029.2|4|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg122Arg/c.366G>A|516|IRF7|protein_coding|CODING|NM_004031.2|2|1),downstream_gene_variant(MODIFIER||1701||839|CDHR5|protein_coding|CODING|NM_001171968.1||1),downstream_gene_variant(MODIFIER||1701||845|CDHR5|protein_coding|CODING|NM_021924.4||1),downstream_gene_variant(MODIFIER||1701||651|CDHR5|protein_coding|CODING|NM_031264.3||1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.7935,0.7954,0.8748,0.87,0.85,0.88,,,,,,,,,,,,,,,,
synonymous_variant,CDHR5,SILENT,NM_021924.4:p.Ala837Ala/c.2511G>A,gcG/gcA,LOW,COSM4145982(1),0.277157,0.0208,rs61877856,,,,,,chr11,617378,617378,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala831Ala/c.2493G>A|839|CDHR5|protein_coding|CODING|NM_001171968.1|15|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala837Ala/c.2511G>A|845|CDHR5|protein_coding|CODING|NM_021924.4|15|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala643Ala/c.1929G>A|651|CDHR5|protein_coding|CODING|NM_031264.3|14|1),upstream_gene_variant(MODIFIER||1650||516|IRF7|protein_coding|CODING|NM_004031.2||1),upstream_gene_variant(MODIFIER||1379||503|IRF7|protein_coding|CODING|NM_001572.3||1),upstream_gene_variant(MODIFIER||1379||474|IRF7|protein_coding|CODING|NM_004029.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.304,0.2704,0.37,0.52,0.29,,,,,,,,,,,,,,,,
synonymous_variant,CDHR5,SILENT,NM_021924.4:p.Asp823Asp/c.2469T>C,gaT/gaC,LOW,COSM429422(3),0.276558,0.0208,rs61877857,,,,,,chr11,617420,617420,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp817Asp/c.2451T>C|839|CDHR5|protein_coding|CODING|NM_001171968.1|15|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp823Asp/c.2469T>C|845|CDHR5|protein_coding|CODING|NM_021924.4|15|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp629Asp/c.1887T>C|651|CDHR5|protein_coding|CODING|NM_031264.3|14|1),upstream_gene_variant(MODIFIER||1692||516|IRF7|protein_coding|CODING|NM_004031.2||1),upstream_gene_variant(MODIFIER||1421||503|IRF7|protein_coding|CODING|NM_001572.3||1),upstream_gene_variant(MODIFIER||1421||474|IRF7|protein_coding|CODING|NM_004029.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.3026,0.2684,0.37,0.52,0.29,,,,,,,,,,,,,,,,
synonymous_variant,CDHR5,SILENT,NM_021924.4:p.Ala790Ala/c.2370T>C,gcT/gcC,LOW,,0.276158,0.0208,rs34889521,,,,,,chr11,617519,617519,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala784Ala/c.2352T>C|839|CDHR5|protein_coding|CODING|NM_001171968.1|15|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala790Ala/c.2370T>C|845|CDHR5|protein_coding|CODING|NM_021924.4|15|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala596Ala/c.1788T>C|651|CDHR5|protein_coding|CODING|NM_031264.3|14|1),upstream_gene_variant(MODIFIER||1791||516|IRF7|protein_coding|CODING|NM_004031.2||1),upstream_gene_variant(MODIFIER||1520||503|IRF7|protein_coding|CODING|NM_001572.3||1),upstream_gene_variant(MODIFIER||1520||474|IRF7|protein_coding|CODING|NM_004029.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.3026,0.2674,0.37,0.52,0.29,,,,,,,,,,,,,,,,
synonymous_variant,CDHR5,SILENT,NM_021924.4:p.Pro784Pro/c.2352G>A,ccG/ccA,LOW,COSM4145983(2),0.484824,0.7044,rs2740380,,,,,,chr11,617537,617537,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro778Pro/c.2334G>A|839|CDHR5|protein_coding|CODING|NM_001171968.1|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro784Pro/c.2352G>A|845|CDHR5|protein_coding|CODING|NM_021924.4|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro590Pro/c.1770G>A|651|CDHR5|protein_coding|CODING|NM_031264.3|14|1),upstream_gene_variant(MODIFIER||1809||516|IRF7|protein_coding|CODING|NM_004031.2||1),upstream_gene_variant(MODIFIER||1538||503|IRF7|protein_coding|CODING|NM_001572.3||1),upstream_gene_variant(MODIFIER||1538||474|IRF7|protein_coding|CODING|NM_004029.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5992,0.4625,0.5596,0.45,0.26,0.54,,,,,,,,,,,,,,,,
missense_variant,CDHR5,MISSENSE,NM_021924.4:p.Cys702Ser/c.2105G>C,tGt/tCt,MODERATE,COSM4145984(1),0.980831,1,rs2740379,0.91(T),"0.0,0.0,0.0(B,B,B)",-1.78(N),-1.0111(T),,chr11,617967,617967,C,G,hom,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys696Ser/c.2087G>C|839|CDHR5|protein_coding|CODING|NM_001171968.1|14|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys702Ser/c.2105G>C|845|CDHR5|protein_coding|CODING|NM_021924.4|14|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys508Ser/c.1523G>C|651|CDHR5|protein_coding|CODING|NM_031264.3|13|1),upstream_gene_variant(MODIFIER||1968||503|IRF7|protein_coding|CODING|NM_001572.3||1),upstream_gene_variant(MODIFIER||1968||474|IRF7|protein_coding|CODING|NM_004029.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,0.999,0.98,0.94,1.00,,,1.000(P),"1.45,1.45,1.31(T,T,T)",0.0000(T),0.134,-1.516732,3.05,1.07,-0.216000,0.155000,0.165000,0.038000,0.022000,0.000000,4.8734
missense_variant,CDHR5,MISSENSE,NM_021924.4:p.Ala687Thr/c.2059G>A,Gcc/Acc,MODERATE,COSM3773606(1),0.170327,0.0198,rs7108757,0.21(T),"0.001,0.002,0.003(B,B,B)",-0.145(N),-0.9766(T),,chr11,618013,618013,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala681Thr/c.2041G>A|839|CDHR5|protein_coding|CODING|NM_001171968.1|14|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala687Thr/c.2059G>A|845|CDHR5|protein_coding|CODING|NM_021924.4|14|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala493Thr/c.1477G>A|651|CDHR5|protein_coding|CODING|NM_031264.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.091,0.2464,0.2137,0.25,0.28,0.24,,,1.000(P),"1.01,1.01,0.91(T,T,T)",0.0000(T),0.061,-0.276429,3.05,-3.27,-1.134000,-1.468000,-0.278000,0.000000,0.000000,0.000000,9.5846
missense_variant,CDHR5,MISSENSE,NM_021924.4:p.Pro521Ser/c.1561C>T,Ccc/Tcc,MODERATE,COSM3765574(4),0.4998,0.7024,rs2740375,0.4(T),"0.032,0.032(B,B)",0.345(N),-0.9668(T),,chr11,618998,618998,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro515Ser/c.1543C>T|839|CDHR5|protein_coding|CODING|NM_001171968.1|13|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro521Ser/c.1561C>T|845|CDHR5|protein_coding|CODING|NM_021924.4|13|1),intron_variant(MODIFIER|||c.1378+308C>T|651|CDHR5|protein_coding|CODING|NM_031264.3|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6002,0.4669,0.5586,0.45,0.29,0.54,,0.889226(N),1.000(P),"1.01,1.01(T,T)",0.0000(T),0.064,0.873997,3.63,1.56,0.561000,0.255000,-0.038000,0.009000,0.003000,0.002000,4.8444
missense_variant,CDHR5,MISSENSE,NM_021924.4:p.Arg357Ser/c.1071A>C,agA/agC,MODERATE,COSM3749172(5),0.610024,0.7292,rs2246614,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.04(N),-0.9804(T),,chr11,619789,619789,T,G,het,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg357Ser/c.1071A>C|839|CDHR5|protein_coding|CODING|NM_001171968.1|10|1),missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg357Ser/c.1071A>C|845|CDHR5|protein_coding|CODING|NM_021924.4|10|1),missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg357Ser/c.1071A>C|651|CDHR5|protein_coding|CODING|NM_031264.3|10|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7025,0.5389,0.6581,0.56,0.45,0.62,,,1.000(P),"2.54,2.54,2.54(T,T,T)",0.0000(T),0.017,-1.539153,3.97,1.96,-0.648000,-0.022000,0.258000,0.092000,0.091000,0.004000,2.6031
synonymous_variant,DRD4,SILENT,NM_000797.3:p.Cys290Cys/c.870C>T,tgC/tgT,LOW,,0.663339,0.7808,rs762502,,,,,,chr11,640119,640119,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys290Cys/c.870C>T|419|DRD4|protein_coding|CODING|NM_000797.3|3|1),"HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8344,0.6081,0.7237,,,,,,,,,,,,,,,,,,,
synonymous_variant,TMEM80,SILENT,NM_001276274.1:p.Thr263Thr/c.789A>G,acA/acG,LOW,,0.356629,0.4712,rs10902201,,,,,,chr11,704583,704583,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr263Thr/c.789A>G|283|TMEM80|protein_coding|CODING|NM_001276274.1|6|1),upstream_gene_variant(MODIFIER||1537||715|EPS8L2|protein_coding|CODING|NM_022772.3||1),downstream_gene_variant(MODIFIER||452||216|TMEM80|protein_coding|CODING|NM_001042463.2||1),downstream_gene_variant(MODIFIER||452||129|TMEM80|protein_coding|CODING|NM_001276253.1||1),downstream_gene_variant(MODIFIER||452||208|TMEM80|protein_coding|CODING|NM_174940.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4765,0.353,0.4901,,,,,,,,,,,,,,,,,,,
synonymous_variant,EPS8L2,SILENT,NM_022772.3:p.Leu101Leu/c.301C>T,Ctg/Ttg,LOW,COSM1561602(2),0.491813,0.2222,rs3087546,,,,,,chr11,720197,720197,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu101Leu/c.301C>T|715|EPS8L2|protein_coding|CODING|NM_022772.3|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,HepG2:PolII,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5051,0.647,0.5457,0.57,0.54,0.59,,,,,,,,,,,,,,,,
synonymous_variant,EPS8L2,SILENT,NM_022772.3:p.Ile258Ile/c.774C>T,atC/atT,LOW,COSM1356757(3),0.279752,0.1746,rs7635,,,,,,chr11,721570,721570,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile258Ile/c.774C>T|715|EPS8L2|protein_coding|CODING|NM_022772.3|10|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM12878:H3K4me2",,,,0.1697,0.5648,0.4155,0.37,0.22,0.45,,,,,,,,,,,,,,,,
synonymous_variant,PDDC1,SILENT,NM_182612.2:p.Thr205Thr/c.615T>C,acT/acC,LOW,COSM3931445(2),0.432508,0.5605,rs7930569,,,,-0.9811(T),,chr11,771034,771034,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr205Thr/c.615T>C|220|PDDC1|protein_coding|CODING|NM_182612.2|7|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3384,0.6037,0.4433,0.44,0.34,0.49,,,0.000(P),,0.0000(T),.,0.596652,4.55,-9.09,-0.464000,-2.024000,-1.347000,0.679000,0.114000,0.000000,4.568
synonymous_variant,PDDC1,SILENT,NM_182612.2:p.Ala129Ala/c.387C>T,gcC/gcT,LOW,COSM3998589(1),0.307308,0.2827,rs12224894,,,,,,chr11,772490,772490,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala129Ala/c.387C>T|220|PDDC1|protein_coding|CODING|NM_182612.2|5|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,K562:Znf263,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.5893,0.4354,0.39,0.22,0.48,,,,,,,,,,,,,,,,
synonymous_variant,PIDD1,SILENT,NM_145886.3:p.His553His/c.1659C>T,caC/caT,LOW,,0.0285543,0,rs11539604,,,,,,chr11,801092,801092,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His553His/c.1659C>T|910|PIDD1|protein_coding|CODING|NM_145886.3|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His553His/c.1659C>T|893|PIDD1|protein_coding|CODING|NM_145887.3|10|1),downstream_gene_variant(MODIFIER||1907||215|PANO|protein_coding|CODING|NM_001293167.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.0533,0.0865,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,PIDD1,MISSENSE,NM_145886.3:p.Gln331Arg/c.992A>G,cAa/cGa,MODERATE,COSM3752766(3),0.351637,0.2748,rs10902221,1(T),"0.002,0.001,0.001(B,B,B)",0(N),-0.9563(T),,chr11,802379,802379,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln331Arg/c.992A>G|910|PIDD1|protein_coding|CODING|NM_145886.3|6|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln331Arg/c.992A>G|893|PIDD1|protein_coding|CODING|NM_145887.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1626,0.6354,0.494,0.45,0.32,0.51,,0.781494(N),1.000(P),"1.26,1.17(T,T)",0.0000(T),0.219,-0.184843,4.02,-3.74,-0.974000,-1.566000,-0.263000,0.170000,0.422000,0.024000,8.8035
synonymous_variant,PIDD1,SILENT,NM_145886.3:p.Leu59Leu/c.177G>T,ctG/ctT,LOW,COSM4146371(2),0.350839,0.2728,rs7104785,,,,,,chr11,804212,804212,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu59Leu/c.177G>T|910|PIDD1|protein_coding|CODING|NM_145886.3|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu59Leu/c.177G>T|893|PIDD1|protein_coding|CODING|NM_145887.3|2|1)","H1ESC:H3K36me3,HepG2:H3K4me2,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3",,,,0.1626,0.6354,0.493,0.45,0.32,0.51,,,,,,,,,,,,,,,,
missense_variant,PNPLA2,MISSENSE,NM_020376.3:p.Leu481Pro/c.1442T>C,cTg/cCg,MODERATE,COSM3927702(2),0.654353,0.6002,rs1138693,0.84(T),0.766(P),0(N),-1.0174(T),,chr11,824789,824789,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu481Pro/c.1442T>C|504|PNPLA2|protein_coding|CODING|NM_020376.3|10|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4949,0.7709,0.7058,0.71,0.70,0.71,,,1.000(P),1.46(T),0.0000(T),0.05,1.389293,.,.,0.000000,0.000000,0.000000,0.006000,0.009000,0.003000,.
missense_variant,CRACR2B,MISSENSE,NM_001286606.1:p.Arg77Gln/c.230G>A,cGg/cAg,MODERATE,,0.568291,0.6647,rs7126805,0.8(T),"0.002,0.002,0.0(B,B,B)",-1.525(N),-0.9771(T),,chr11,828916,828916,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg77Gln/c.230G>A|399|CRACR2B|protein_coding|CODING|NM_001286606.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg77Gln/c.230G>A|294|CRACR2B|protein_coding|CODING|NM_173584.4|2|1)","H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,HMEC:H3K27me3,H1ESC:H3K4me1,NHEK:H3K27me3",,,,0.3456,0.7695,0.6948,0.65,0.52,0.71,,0.001412(N),0.999(P),"0.98,0.98,0.98,0.98,0.98(T,T,T,T,T)",0.0000(T),0.053,1.446198,4.49,2.2,-0.490000,0.597000,1.510000,0.924000,0.997000,0.994000,7.2868
missense_variant,CRACR2B,MISSENSE,NM_001286606.1:p.Lys153Glu/c.457A>G,Aag/Gag,MODERATE,COSM4146379(1),0.665535,0.8929,rs28558789,0.52(T),"0.0,0.0,0.0(B,B,B)",-1.52(N),-1.0290(T),,chr11,829539,829539,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys153Glu/c.457A>G|399|CRACR2B|protein_coding|CODING|NM_001286606.1|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys153Glu/c.457A>G|294|CRACR2B|protein_coding|CODING|NM_173584.4|3|1),splice_region_variant(LOW|||c.457A>G|399|CRACR2B|protein_coding|CODING|NM_001286606.1|3|1),splice_region_variant(LOW|||c.457A>G|294|CRACR2B|protein_coding|CODING|NM_173584.4|3|1)","GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,NHEK:H3K27me3,GM12878:H3K4me2",,,,0.453,0.7824,0.67,0.66,0.61,0.69,,0.000045(N),0.000(P),"3.36,3.36,3.5(T,T,T)",0.0000(T),0.046,1.093710,4.88,3.97,-0.215000,0.496000,1.679000,0.859000,1.000000,0.963000,9.3656
missense_variant,CRACR2B,MISSENSE,NM_001286606.1:p.Ser248Ile/c.743G>T,aGc/aTc,MODERATE,COSM1561958(4),0.652356,0.8909,rs4075289,0.27(T),"0.178,0.181(B,B)",1.495(L),-1.0332(T),,chr11,830670,830670,G,T,hom,"missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser248Ile/c.743G>T|399|CRACR2B|protein_coding|CODING|NM_001286606.1|6|1),missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser248Ile/c.743G>T|294|CRACR2B|protein_coding|CODING|NM_173584.4|6|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.4509,0.7767,0.667,0.69,0.63,0.72,,,1.000(P),"3.18,3.18,3.33(T,T,T)",0.0000(T),0.104,2.610896,4.2,1.03,0.457000,0.029000,0.210000,0.793000,0.977000,0.000000,7.0862
synonymous_variant,CD151,SILENT,NM_001039490.1:p.Gly193Gly/c.579G>A,ggG/ggA,LOW,,0.642173,0.8552,rs1130663,,,,,,chr11,837582,837582,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly193Gly/c.579G>A|253|CD151|protein_coding|CODING|NM_001039490.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly193Gly/c.579G>A|253|CD151|protein_coding|CODING|NM_004357.4|7|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly193Gly/c.579G>A|253|CD151|protein_coding|CODING|NM_139029.1|7|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly193Gly/c.579G>A|253|CD151|protein_coding|CODING|NM_139030.3|6|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4438,0.7925,0.663,0.63,0.55,0.68,,,,,,,,,,,,,,,,
synonymous_variant,POLR2L,SILENT,NM_021128.4:p.Asp33Asp/c.99T>C,gaT/gaC,LOW,COSM3752784(3),0.642173,0.8552,rs4895,,,,,,chr11,840477,840477,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp33Asp/c.99T>C|67|POLR2L|protein_coding|CODING|NM_021128.4|2|1),downstream_gene_variant(MODIFIER||1642||253|CD151|protein_coding|CODING|NM_001039490.1||1),downstream_gene_variant(MODIFIER||1642||253|CD151|protein_coding|CODING|NM_004357.4||1),downstream_gene_variant(MODIFIER||1642||253|CD151|protein_coding|CODING|NM_139029.1||1),downstream_gene_variant(MODIFIER||1642||253|CD151|protein_coding|CODING|NM_139030.3||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4438,0.7925,0.663,0.63,0.55,0.68,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN4,SILENT,NM_001025234.1:p.Leu56Leu/c.166T>C,Ttg/Ctg,LOW,,0.991613,1,rs28505621,,,,,,chr11,862652,862652,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu56Leu/c.166T>C|238|TSPAN4|protein_coding|CODING|NM_001025234.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu56Leu/c.166T>C|238|TSPAN4|protein_coding|CODING|NM_001025235.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu56Leu/c.166T>C|238|TSPAN4|protein_coding|CODING|NM_001025236.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu56Leu/c.166T>C|238|TSPAN4|protein_coding|CODING|NM_001025237.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu56Leu/c.166T>C|238|TSPAN4|protein_coding|CODING|NM_001025238.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu56Leu/c.166T>C|238|TSPAN4|protein_coding|CODING|NM_003271.4|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||174|TSPAN4|protein_coding|CODING|NM_001025239.1|3|1),5_prime_UTR_variant(MODIFIER||27|c.-27T>C|174|TSPAN4|protein_coding|CODING|NM_001025239.1|3|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9971,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CHID1,SILENT,NM_001142676.1:p.Val76Val/c.228C>G,gtC/gtG,LOW,,0.991414,1,rs28380110,,,,,,chr11,903070,903070,G,C,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val51Val/c.153C>G|393|CHID1|protein_coding|CODING|NM_001142674.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val51Val/c.153C>G|393|CHID1|protein_coding|CODING|NM_001142675.1|3|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val76Val/c.228C>G|418|CHID1|protein_coding|CODING|NM_001142676.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val51Val/c.153C>G|362|CHID1|protein_coding|CODING|NM_001142677.1|3|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val51Val/c.153C>G|393|CHID1|protein_coding|CODING|NM_023947.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,AP2A2,SILENT,NM_001242837.1:p.Leu310Leu/c.930C>T,ctC/ctT,LOW,COSM3752831(2),0.461062,0.2847,rs10794358,,,,,,chr11,985547,985547,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu310Leu/c.930C>T|940|AP2A2|protein_coding|CODING|NM_001242837.1|8|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu309Leu/c.927C>T|939|AP2A2|protein_coding|CODING|NM_012305.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3906,0.7147,0.66,0.55,0.38,0.64,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro2049Leu/c.6146C>T,cCa/cTa,MODERATE,,,,rs77024070,0.31(T),0.0(B),-0.09(N),-1.0395(T),,chr11,1016655,1016655,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro2049Leu/c.6146C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),0.7(T),0.0503(T),0.095,-0.046414,2.46,-0.588,-2.140000,-0.114000,0.623000,0.012000,0.001000,0.003000,3.9033
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Val2046Ile/c.6136G>A,Gtt/Att,MODERATE,,,,rs77438942,0.7(T),0.0(B),-0.345(N),-0.9994(T),,chr11,1016665,1016665,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val2046Ile/c.6136G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),1.85(T),0.0173(T),0.051,-1.170083,3.12,-6.24,-2.410000,-1.912000,-1.486000,0.002000,0.000000,0.000000,1.9894
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ala2033Ser/c.6097G>T,Gcc/Tcc,MODERATE,COSM4145034(1),,,rs75826443,0.95(T),0.0(B),-1.245(N),-0.9901(T),,chr11,1016704,1016704,C,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala2033Ser/c.6097G>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.52(T),0.0069(T),0.03,-1.235231,2.46,-3.06,-0.824000,-1.169000,-1.424000,0.002000,0.000000,0.000000,0.6
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr2030Ala/c.6088A>G,Aca/Gca,MODERATE,,0.000798722,0,rs76406481,0.87(T),0.0(B),-0.345(N),-0.9856(T),,chr11,1016713,1016713,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr2030Ala/c.6088A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,0,0,0.004,,,,,,1.000(N),2.2(T),0.0147(T),0.028,-1.405336,3.12,-1.82,-1.968000,-0.932000,-0.730000,0.000000,0.000000,0.000000,0.7829
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr2027Pro/c.6079A>C,Act/Cct,MODERATE,COSM4145035(1),0.00439297,0.001,rs144616203,0.33(T),0.0(B),-1.75(N),-0.9748(T),,chr11,1016722,1016722,T,G,het,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr2027Pro/c.6079A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,0.002,0.0029,0.0089,,,,,,1.000(N),1.99(T),0.0142(T),0.173,-0.263718,3.12,3.12,-0.648000,0.631000,-0.238000,0.002000,0.001000,0.000000,9.8613
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ile2026Thr/c.6077T>C,aTc/aCc,MODERATE,,0.000998403,0,rs3208810,1(T),0.0(B),-1.935(N),-0.9483(T),,chr11,1016724,1016724,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile2026Thr/c.6077T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,0.001,0.0014,0.001,,,,,,1.000(N),2.32(T),0.0075(T),0.068,-0.759493,3.12,0.0112,-0.642000,-0.117000,-0.931000,0.003000,0.001000,0.000000,4.2425
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Val2009Ile/c.6025G>A,Gtt/Att,MODERATE,,,,rs33988517,0.65(T),0.001(B),0.755(N),-0.9611(T),,chr11,1016776,1016776,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val2009Ile/c.6025G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.21(T),0.0186(T),0.052,-0.003606,2.42,-4.84,-3.438000,-2.481000,-3.169000,0.004000,0.000000,0.000000,1.3261
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Phe1989Phe/c.5967C>T,ttC/ttT,LOW,COSM3931186(1),0.00179712,0.001,rs34740154,,,,,,chr11,1016834,1016834,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1989Phe/c.5967C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,0,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Phe1978Ile/c.5932T>A,Ttc/Atc,MODERATE,,0.0299521,0.001,rs35469308,0.41(T),0.0(B),0(N),-0.9873(T),,chr11,1016869,1016869,A,T,het,missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe1978Ile/c.5932T>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,0,0.0115,0.001,,,,,,1.000(N),2.27(T),0.0000(T),0.073,-0.230819,2.76,-5.51,-2.161000,-4.027000,-5.070000,0.011000,0.000000,0.000000,5.5251
synonymous_variant,MUC6,SILENT,NM_005961.2:p.His1969His/c.5907C>T,caC/caT,LOW,,,,rs34281988,,,,,,chr11,1016894,1016894,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1969His/c.5907C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Arg1961Arg/c.5883G>A,agG/agA,LOW,COSM1350272(2),,,rs34375705,,,,,,chr11,1016918,1016918,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg1961Arg/c.5883G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ser1958Thr/c.5873G>C,aGc/aCc,MODERATE,,0.0309505,0,rs34053383,1(T),0.0(B),-1.935(N),-0.9387(T),,chr11,1016928,1016928,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser1958Thr/c.5873G>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,CD4:H3K36me1,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,0,0.0144,0.001,,,,,,1.000(N),2.6(T),0.0000(T),0.026,-1.898761,3.12,0.969,-0.647000,-0.171000,-0.182000,0.001000,0.000000,0.000000,2.5983
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1924Ser/c.5772A>C,tcA/tcC,LOW,,,,rs35621365,,,,,,chr11,1017029,1017029,T,G,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser1924Ser/c.5772A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1906Leu/c.5717C>T,cCa/cTa,MODERATE,COSM4145050(4),,,rs34649796,0.23(T),0.082(B),0.345(N),-0.9626(T),,chr11,1017084,1017084,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro1906Leu/c.5717C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.21(T),0.0206(T),0.051,-0.062236,3.01,-6.01,-2.225000,-1.237000,-2.032000,0.001000,0.000000,0.000000,6.7067
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1876Thr/c.5628C>T,acC/acT,LOW,COSM4145058(1),,,rs61869004,,,,,,chr11,1017173,1017173,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1876Thr/c.5628C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1873Gln/c.5618C>A,cCa/cAa,MODERATE,COSM1350278(2),0.000399361,0.001,rs34844844,0.24(T),0.994(D),1.895(L),-1.0604(T),,chr11,1017183,1017183,G,T,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro1873Gln/c.5618C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,0,0,0,,,,,,1.000(N),2.18(T),0.1029(T),0.094,1.822064,3.05,2.12,0.313000,0.585000,0.775000,0.006000,0.000000,0.001000,8.5756
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Met1872Thr/c.5615T>C,aTg/aCg,MODERATE,COSM4145060(3),,,rs74579726,0.59(T),0.094(B),-1.355(N),-0.9746(T),,chr11,1017186,1017186,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1872Thr/c.5615T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.48(T),0.0076(T),0.019,-1.929888,3.05,-6.11,-2.572000,-1.864000,-7.967000,0.002000,0.000000,0.000000,1.5012
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr1861Ala/c.5581A>G,Aca/Gca,MODERATE,COSM3773549(1),,,rs56238842,0.91(T),0.202(B),0.205(N),-0.9352(T),,chr11,1017220,1017220,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr1861Ala/c.5581A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.11(T),0.0000(T),0.028,-0.544888,2.02,-1.33,-2.350000,-0.285000,0.218000,0.000000,0.000000,0.722000,1.0835
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ile1857Thr/c.5570T>C,aTc/aCc,MODERATE,,,,rs35840539,0.53(T),0.063(B),-1.7(N),-0.9394(T),,chr11,1017231,1017231,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile1857Thr/c.5570T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.59(T),0.0000(T),0.039,-1.478495,3.21,2.26,-0.642000,0.175000,-0.516000,0.031000,0.028000,0.000000,2.4792
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1854Thr/c.5562G>A,acG/acA,LOW,,0.0493211,0.1766,rs56386804,,,,,,chr11,1017239,1017239,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1854Thr/c.5562G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,0.0061,0.0216,0.0338,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr1854Met/c.5561C>T,aCg/aTg,MODERATE,,0.0501198,0.1776,rs34507884,0.14(T),0.996(D),1.24(L),-1.0762(T),,chr11,1017240,1017240,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1854Met/c.5561C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,0.0061,0.0245,0.0378,,,,,,1.000(N),2.21(T),0.0514(T),0.105,1.070736,2.32,-4.65,0.313000,-2.028000,-1.937000,0.003000,0.000000,0.000000,0.1906
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Phe1843Ser/c.5528T>C,tTc/tCc,MODERATE,,,,rs200476918,0.92(T),0.621(P),1.445(L),-1.0371(T),,chr11,1017273,1017273,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe1843Ser/c.5528T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.14(T),0.0511(T),0.121,0.942076,3.21,-4.61,-0.818000,-0.790000,-1.641000,0.018000,0.000000,0.000000,11.3258
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ser1842Pro/c.5524T>C,Tct/Cct,MODERATE,COSM3927657(1),0.00159744,0,rs111373859,0.36(T),0.029(B),-0.205(N),-1.0338(T),,chr11,1017277,1017277,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser1842Pro/c.5524T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,0.0031,0.0014,0,,,,,,1.000(N),1.97(T),0.0163(T),0.04,-0.321869,3.21,-6.41,-2.572000,-3.625000,-2.986000,0.002000,0.000000,0.000000,0.7361
missense_variant,MUC6,MISSENSE,NM_005961.2:p.His1833Gln/c.5499C>G,caC/caG,MODERATE,COSM4145066(2),0.00139776,0,rs35330958,0.59(T),0.041(B),-0.975(N),-0.9284(T),,chr11,1017302,1017302,G,C,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His1833Gln/c.5499C>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,0.0031,0,0,,,,,,1.000(N),2.65(T),0.0106(T),0.013,-1.990350,3.21,2.27,-0.647000,0.188000,-1.109000,0.005000,0.009000,0.000000,3.7889
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1832Ser/c.5494C>T,Cct/Tct,MODERATE,COSM1321955(1),,,rs372717767,0.21(T),0.676(P),2.015(M),-1.0701(T),,chr11,1017307,1017307,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1832Ser/c.5494C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,0.02,0.03,0.02,,,1.000(N),2.09(T),0.0246(T),0.037,1.706398,3.21,-1.4,-0.643000,-0.414000,-1.644000,0.008000,0.000000,0.000000,3.0139
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1828Thr/c.5484C>A,acC/acA,LOW,COSM4145067(1),,,rs33943903,,,,,,chr11,1017317,1017317,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1828Thr/c.5484C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Tyr1826Asp/c.5476T>G,Tat/Gat,MODERATE,COSM1317402(2),,,rs55903826,0.22(T),0.993(D),0.695(N),-1.0847(T),,chr11,1017325,1017325,A,C,het,missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr1826Asp/c.5476T>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.18(T),0.0487(T),0.177,1.058685,3.21,-6.41,-0.736000,-2.482000,-4.881000,0.080000,0.000000,0.000000,1.5268
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr1822Ala/c.5464A>G,Acc/Gcc,MODERATE,COSM3931196(3),,,rs76686156,1(T),0.554(P),2.05(M),-1.0206(T),,chr11,1017337,1017337,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1822Ala/c.5464A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,0.999(N),1.43(T),0.0812(T),0.249,0.642535,3.1,1.97,0.260000,1.377000,0.588000,0.157000,0.794000,0.558000,6.96
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Gln1821His/c.5463G>T,caG/caT,MODERATE,COSM3931198(4),,,rs78943453,0.27(T),0.221(B),0.695(N),-0.9996(T),,chr11,1017338,1017338,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln1821His/c.5463G>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),1.85(T),0.0370(T),0.08,0.064473,3.1,-0.521,0.313000,-0.226000,-2.734000,0.162000,0.564000,0.000000,4.9709
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr1807Ser/c.5420C>G,aCt/aGt,MODERATE,COSM1180594(3),,,rs34912894,1(T),0.074(B),-1.2(N),-0.9668(T),,chr11,1017381,1017381,G,C,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr1807Ser/c.5420C>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.24(T),0.0108(T),0.018,-0.263629,2.98,-2.52,-0.647000,-0.985000,-1.414000,0.001000,0.000000,0.000000,7.168
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr1806Ser/c.5417C>G,aCc/aGc,MODERATE,,0.000798722,0,rs34095361,0.8(T),0.108(B),-1.15(N),-0.9310(T),,chr11,1017384,1017384,G,C,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr1806Ser/c.5417C>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.002,0,0,,,,,,1.000(N),2.11(T),0.0157(T),0.021,-1.805865,2.98,0.828,-0.647000,-0.224000,-2.055000,0.000000,0.000000,0.001000,7.7587
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Gly1805Gly/c.5415G>A,ggG/ggA,LOW,,,,,,,,,,chr11,1017386,1017386,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1805Gly/c.5415G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1794Thr/c.5380C>A,Ccc/Acc,MODERATE,COSM4145070(1),,,rs35549382,0.59(T),0.645(P),1.39(L),-1.0296(T),,chr11,1017421,1017421,G,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro1794Thr/c.5380C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.28(T),0.0462(T),0.046,-1.604577,3.21,1.25,-2.054000,0.182000,-0.938000,0.001000,0.001000,0.000000,6.9218
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1787Ser/c.5361G>A,tcG/tcA,LOW,COSM3773551(1),,,rs78729877,,,,,,chr11,1017440,1017440,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1787Ser/c.5361G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1786Thr/c.5358G>C,acG/acC,LOW,COSM4145071(1),0.000399361,0,rs80266715,,,,,,chr11,1017443,1017443,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr1786Thr/c.5358G>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.001,0,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1780Thr/c.5340C>A,acC/acA,LOW,,,,rs77216712,,,,,,chr11,1017461,1017461,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1780Thr/c.5340C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Arg1779Arg/c.5337A>G,agA/agG,LOW,,,,rs112874139,,,,,,chr11,1017464,1017464,T,C,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg1779Arg/c.5337A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Arg1779Gly/c.5335A>G,Aga/Gga,MODERATE,,,,rs201054567,0.55(T),0.04(B),0(N),-0.9346(T),,chr11,1017466,1017466,T,C,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg1779Gly/c.5335A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.3(T),0.0179(T),0.05,-1.115457,2.15,0.0176,-0.818000,0.016000,-2.427000,0.001000,0.000000,0.000000,5.1888
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Gly1777Gly/c.5331C>A,ggC/ggA,LOW,COSM3931200(1),,,rs75533660,,,,,,chr11,1017470,1017470,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly1777Gly/c.5331C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.His1773Pro/c.5318A>C,cAc/cCc,MODERATE,COSM1603938(1),,,rs79986665,0.39(T),0.01(B),-1.01(N),-0.9414(T),,chr11,1017483,1017483,T,G,het,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His1773Pro/c.5318A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.27(T),0.0132(T),0.06,0.030796,2.91,0.844,-0.743000,0.066000,-0.094000,0.005000,0.000000,0.000000,6.6218
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ser1768Thr/c.5303G>C,aGc/aCc,MODERATE,COSM4145073(3),,,rs76707565,0.91(T),0.047(B),-1.155(N),-0.9421(T),,chr11,1017498,1017498,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser1768Thr/c.5303G>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K27me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.21(T),0.0112(T),0.053,-2.111116,1.87,0.941,-3.713000,-0.011000,-0.471000,0.002000,0.001000,0.000000,5.7537
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ser1763Pro/c.5287T>C,Tca/Cca,MODERATE,COSM4145075(1),,,rs79037833,0.48(T),0.016(B),-1.4(N),-0.9948(T),,chr11,1017514,1017514,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser1763Pro/c.5287T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),1.83(T),0.0130(T),0.029,0.170968,2.94,-4.22,-0.741000,-1.034000,-4.789000,0.003000,0.000000,0.000000,1.224
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Leu1685Phe/c.5055A>C,ttA/ttC,MODERATE,COSM4145083(2),,,rs78848170,0.4(T),0.0(B),-1.545(N),-0.9466(T),,chr11,1017746,1017746,T,G,het,missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu1685Phe/c.5055A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.27(T),0.0110(T),0.014,-1.453601,1.72,1.72,-0.807000,0.304000,.,0.017000,0.001000,.,5.457
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1676Ser/c.5028C>T,agC/agT,LOW,COSM118291(1),0.296725,0.3165,rs57384288,,,,,,chr11,1017773,1017773,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser1676Ser/c.5028C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,0.3804,0.1542,0.2505,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Leu1673Arg/c.5018T>G,cTg/cGg,MODERATE,,0.0652955,0.0476,,0.83(T),0.011(B),-0.345(N),-1.0131(T),,chr11,1017783,1017783,A,C,het,missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu1673Arg/c.5018T>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,0.0562,0.1599,0.1064,,,,,,1.000(N),2.21(T),0.0119(T),0.137,-1.540308,1.79,-3.57,-3.793000,-2.926000,-7.641000,0.000000,0.000000,0.000000,0.342
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Met1671Arg/c.5012T>G,aTg/aGg,MODERATE,COSM4145088(1),,,rs78819924,0.68(T),0.008(B),1.04(L),-0.9545(T),,chr11,1017789,1017789,A,C,het,missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met1671Arg/c.5012T>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,RCV000069128.2,,,,,,,,,,1.000(N),2.24(T),0.0225(T),0.214,0.410099,1.31,0.107,0.254000,0.016000,-3.155000,0.002000,0.000000,0.000000,3.1385
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1652Thr/c.4956G>C,acG/acC,LOW,COSM4145094(1),,,rs74610224,,,,,,chr11,1017845,1017845,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr1652Thr/c.4956G>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Met1648Thr/c.4943T>C,aTg/aCg,MODERATE,,,,rs79583615,1(T),0.014(B),-1.445(N),-1.0713(T),,chr11,1017858,1017858,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1648Thr/c.4943T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.34(T),0.0082(T),0.027,-3.362101,2.16,-4.32,-2.228000,-3.507000,-2.699000,0.002000,0.000000,0.008000,2.4017
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr1635Pro/c.4903A>C,Acc/Ccc,MODERATE,,,,,0.06(T),0.991(D),2.11(M),-1.0393(T),,chr11,1017898,1017898,T,G,het,missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr1635Pro/c.4903A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),1.62(T),0.1401(T),0.218,1.126977,2.39,1.26,0.247000,1.065000,-0.102000,0.017000,0.020000,0.000000,5.0115
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1622Ser/c.4866T>C,tcT/tcC,LOW,COSM4145098(2),,,rs138784536,,,,,,chr11,1017935,1017935,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1622Ser/c.4866T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1620Ser/c.4860C>A,tcC/tcA,LOW,COSM4145100(3),,,rs61869007,,,,,,chr11,1017941,1017941,G,T,het,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser1620Ser/c.4860C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1613Leu/c.4838C>T,cCc/cTc,MODERATE,COSM4145103(1),,,rs61869008,0.21(T),0.118(B),0.55(N),-1.0000(T),,chr11,1017963,1017963,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1613Leu/c.4838C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.22(T),0.0227(T),0.038,0.666070,2.39,1.44,-0.694000,0.316000,1.670000,0.013000,0.003000,0.015000,5.2258
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1611Thr/c.4833A>T,acA/acT,LOW,,,,rs61869009,,,,,,chr11,1017968,1017968,T,A,het,synonymous_variant(LOW|SILENT|acA/acT|p.Thr1611Thr/c.4833A>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.His1607Leu/c.4820A>T,cAc/cTc,MODERATE,COSM4145105(1),,,rs61869010,0.65(T),0.038(B),1.245(L),-0.9495(T),,chr11,1017981,1017981,T,A,het,missense_variant(MODERATE|MISSENSE|cAc/cTc|p.His1607Leu/c.4820A>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.26(T),0.0243(T),0.133,0.190223,2.39,-1.75,0.247000,-0.591000,-4.403000,0.026000,0.000000,0.000000,3.6873
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1605Thr/c.4813C>A,Cca/Aca,MODERATE,,,,rs112579249,0.29(T),0.981(D),1.055(L),-1.0344(T),,chr11,1017988,1017988,G,T,het,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro1605Thr/c.4813C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),1.79(T),0.0700(T),0.136,-0.647618,2.39,-0.213,0.297000,0.255000,0.017000,0.020000,0.002000,0.001000,0.7847
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Lys1597Gln/c.4789A>C,Aag/Cag,MODERATE,COSM4145106(2),,,rs10751676,0.45(T),0.035(B),0.77(N),-0.9922(T),,chr11,1018012,1018012,T,G,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys1597Gln/c.4789A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.21(T),0.0273(T),0.065,-0.795754,2.39,-4.33,-3.741000,-2.941000,-0.997000,0.001000,0.000000,0.000000,12.9931
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ala1593Pro/c.4777G>C,Gca/Cca,MODERATE,,,,,0.23(T),0.088(B),1.59(L),-1.0341(T),,chr11,1018024,1018024,C,G,het,missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala1593Pro/c.4777G>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.17(T),0.0438(T),0.136,0.614255,2.39,2.39,0.297000,1.293000,-0.442000,0.012000,0.031000,0.000000,5.6241
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1592Thr/c.4776G>T,acG/acT,LOW,COSM4145108(2),,,rs10751677,,,,,,chr11,1018025,1018025,C,A,het,synonymous_variant(LOW|SILENT|acG/acT|p.Thr1592Thr/c.4776G>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Pro1590Pro/c.4770C>T,ccC/ccT,LOW,COSM4145110(3),,,rs10751678,,,,,,chr11,1018031,1018031,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1590Pro/c.4770C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ser1587Pro/c.4759T>C,Tcc/Ccc,MODERATE,,,,rs200364398,0.18(T),0.91(D),1.59(L),-1.0250(T),,chr11,1018042,1018042,A,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser1587Pro/c.4759T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.02(T),0.0754(T),0.104,-0.501177,1.66,-3.31,0.247000,-2.737000,-0.512000,0.026000,0.000000,0.000000,6.5731
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Phe1585Leu/c.4753T>C,Ttc/Ctc,MODERATE,,,,rs12787400,0.67(T),0.027(B),0.895(L),-0.9470(T),,chr11,1018048,1018048,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe1585Leu/c.4753T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.3(T),0.0219(T),0.059,-1.421658,1.55,-0.407,-2.307000,-0.114000,-4.590000,0.000000,0.000000,0.000000,1.9807
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Gly1581Glu/c.4742G>A,gGg/gAg,MODERATE,COSM3773557(1),,,rs78336072,0.38(T),0.0(B),1.1(L),-0.9983(T),,chr11,1018059,1018059,C,T,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly1581Glu/c.4742G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1,H1ESC:Cmyc",,,,,,,,,,,,1.000(N),2.25(T),0.0231(T),0.065,-1.181258,1.66,-3.31,-0.742000,-3.040000,-1.459000,0.004000,0.000000,0.000000,0.8326
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Asn1562Thr/c.4685A>C,aAc/aCc,MODERATE,,,,rs10902269,1(T),0.0(B),-1.545(N),-0.9559(T),,chr11,1018116,1018116,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn1562Thr/c.4685A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,1.000(N),2.46(T),0.0088(T),0.012,-2.106408,1.9,-0.0834,-2.075000,-0.322000,2.208000,0.011000,0.000000,0.990000,4.1519
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Arg1555Gly/c.4663A>G,Aga/Gga,MODERATE,,0.000199681,0,rs71454075,0.42(T),0.0(B),-1.32(N),-0.9584(T),,chr11,1018138,1018138,T,C,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg1555Gly/c.4663A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,0,0,0.001,,,,,,1.000(N),2.46(T),0.0105(T),0.053,-1.372161,1.9,-0.221,-1.901000,-0.395000,-3.588000,0.000000,0.000000,0.000000,2.1272
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Arg1553Gly/c.4657C>G,Cgc/Ggc,MODERATE,,0.000199681,0,rs12807084,0.4(T),0.0(B),-1.39(N),-0.9718(T),,chr11,1018144,1018144,G,C,het,missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg1553Gly/c.4657C>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,0,0,0.001,,,,,,1.000(N),2.22(T),0.0098(T),0.039,-0.480421,1.9,-1.85,-0.647000,-0.968000,-0.891000,0.001000,0.000000,0.000000,2.1402
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1544Thr/c.4632G>C,acG/acC,LOW,COSM4145130(3),,,rs77647814,,,,,,chr11,1018169,1018169,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr1544Thr/c.4632G>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1542Thr/c.4626T>C,acT/acC,LOW,COSM3746219(4),0.000599042,0,rs12418172,,,,,,chr11,1018175,1018175,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr1542Thr/c.4626T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,0.001,0.0014,0,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Thr1540Asn/c.4619C>A,aCt/aAt,MODERATE,,,,,0.39(T),0.054(B),1.15(L),-0.9797(T),,chr11,1018182,1018182,G,T,het,missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr1540Asn/c.4619C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,1.000(N),2.19(T),0.0311(T),0.027,-0.027047,2.41,-1.25,-0.802000,-0.508000,0.256000,0.002000,0.000000,0.002000,3.7785
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1539Thr/c.4615C>A,Cca/Aca,MODERATE,,,,,0.78(T),0.001(B),1.59(L),-0.9357(T),,chr11,1018186,1018186,G,T,het,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro1539Thr/c.4615C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,1.000(N),2.08(T),0.0316(T),0.037,-0.351531,2.41,-4.82,-0.678000,-1.538000,-6.102000,0.002000,0.000000,0.000000,5.4506
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Val1537Ile/c.4609G>A,Gtc/Atc,MODERATE,,,,,0.27(T),0.001(B),0.345(N),-1.0617(T),,chr11,1018192,1018192,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1537Ile/c.4609G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,1.000(N),2.2(T),0.0225(T),0.027,-0.461474,2.41,-4.82,-1.800000,-4.119000,0.370000,0.002000,0.000000,0.000000,3.7021
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Pro1535Pro/c.4605T>A,ccT/ccA,LOW,,,,,,,,,,chr11,1018196,1018196,A,T,het,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro1535Pro/c.4605T>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.His1528Pro/c.4583A>C,cAc/cCc,MODERATE,,,,,0.37(T),0.092(B),1.59(L),-1.0073(T),,chr11,1018218,1018218,T,G,het,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His1528Pro/c.4583A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,1.000(N),2.12(T),0.0385(T),0.189,0.109084,2.41,1.17,0.260000,0.118000,0.020000,0.003000,0.002000,0.000000,4.9988
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1527Ser/c.4581A>T,tcA/tcT,LOW,,,,,,,,,,chr11,1018220,1018220,T,A,het,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser1527Ser/c.4581A>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Leu1525Leu/c.4575A>C,ctA/ctC,LOW,,,,,,,,,,chr11,1018226,1018226,T,G,het,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu1525Leu/c.4575A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1524Ser/c.4572G>C,tcG/tcC,LOW,COSM4145137(5),,,rs77630889,,,,,,chr11,1018229,1018229,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser1524Ser/c.4572G>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1523Thr/c.4569C>A,acC/acA,LOW,COSM4145139(5),,,rs113063572,,,,,,chr11,1018232,1018232,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1523Thr/c.4569C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1522Ser/c.4564C>T,Cct/Tct,MODERATE,COSM4145141(5),,,rs79892432,1(T),0.0(B),-1.465(N),-0.9954(T),,chr11,1018237,1018237,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1522Ser/c.4564C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),2.78(T),0.0054(T),0.024,-1.782300,2.41,-4.82,-1.912000,-1.643000,0.054000,0.001000,0.000000,0.059000,3.8356
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1521Thr/c.4563A>C,acA/acC,LOW,COSM4145142(5),,,rs77570745,,,,,,chr11,1018238,1018238,T,G,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr1521Thr/c.4563A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Asn1519Thr/c.4556A>C,aAc/aCc,MODERATE,COSM4145145(4),,,rs76423553,0.57(T),0.0(B),0.345(N),-0.9523(T),,chr11,1018245,1018245,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn1519Thr/c.4556A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),2.22(T),0.0177(T),0.013,-0.449973,2.56,-1.03,-0.648000,-0.859000,0.123000,0.002000,0.000000,0.000000,2.2501
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Asn1519Asp/c.4555A>G,Aac/Gac,MODERATE,COSM3931205(6),,,rs79458257,0.61(T),0.0(B),-0.205(N),-0.9432(T),,chr11,1018246,1018246,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1519Asp/c.4555A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),2.38(T),0.0150(T),0.007,-0.241386,2.56,-0.719,-0.642000,-0.368000,-0.697000,0.002000,0.000000,0.000000,3.9796
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1515Ser/c.4545A>C,tcA/tcC,LOW,,,,,,,,,,chr11,1018256,1018256,T,G,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser1515Ser/c.4545A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.His1513Gln/c.4539C>G,caC/caG,MODERATE,COSM3931206(3),,,rs78003962,0.6(T),0.009(B),1.12(L),-0.9645(T),,chr11,1018262,1018262,G,C,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His1513Gln/c.4539C>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.36(T),0.0217(T),0.037,-0.568391,2.56,-5.11,-4.769000,-2.466000,-2.824000,0.000000,0.000000,0.000000,2.1779
missense_variant,MUC6,MISSENSE,NM_005961.2:p.His1513Pro/c.4538A>C,cAc/cCc,MODERATE,,,,rs79680044,0.4(T),0.0(B),1.32(L),-0.9358(T),,chr11,1018263,1018263,T,G,het,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His1513Pro/c.4538A>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.27(T),0.0256(T),0.055,-3.937506,2.56,-5.11,-7.873000,-6.582000,-2.324000,0.000000,0.000000,0.000000,2.3052
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ala1512Val/c.4535C>T,gCc/gTc,MODERATE,,,,,0.34(T),0.001(B),1.735(L),-0.9904(T),,chr11,1018266,1018266,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala1512Val/c.4535C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),1.99(T),0.0386(T),0.05,0.541961,2.56,-0.703,-2.125000,-0.313000,-0.823000,0.001000,0.000000,0.000000,4.0361
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Pro1504Ala/c.4510C>G,Ccg/Gcg,MODERATE,COSM4145149(1),,,,1(T),0.0(B),-1.155(N),-1.0635(T),,chr11,1018291,1018291,G,C,het,missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro1504Ala/c.4510C>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.31(T),0.0086(T),0.049,-2.548175,2.41,-4.82,-1.999000,-3.801000,-1.656000,0.000000,0.000000,0.000000,1.5867
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ile1502Met/c.4506A>G,atA/atG,MODERATE,COSM4145153(3),,,rs73403297,0.25(T),0.003(B),0.315(N),-0.9973(T),,chr11,1018295,1018295,T,C,het,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile1502Met/c.4506A>G|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.0(T),0.0000(T),0.086,-0.820241,2.41,-4.82,-3.968000,-4.385000,-2.876000,0.000000,0.000000,0.000000,3.9169
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Thr1496Thr/c.4488C>A,acC/acA,LOW,COSM4145156(2),,,rs75499910,,,,,,chr11,1018313,1018313,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1496Thr/c.4488C>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ser1495Ser/c.4485C>T,tcC/tcT,LOW,COSM1474940(4),,,rs201954368,,,,,,chr11,1018316,1018316,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1495Ser/c.4485C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Gly1482Gly/c.4446T>C,ggT/ggC,LOW,COSM4145165(3),,,rs7396697,,,,,,chr11,1018355,1018355,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1482Gly/c.4446T>C|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Ala1479Thr/c.4435G>A,Gcg/Acg,MODERATE,COSM3773563(4),,,rs76741048,1(T),0.0(B),-1.1(N),-0.9774(T),,chr11,1018366,1018366,C,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala1479Thr/c.4435G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,,1.000(N),2.25(T),0.0093(T),0.011,-1.163713,2.45,-1.37,-2.537000,-0.613000,-1.166000,0.001000,0.000000,0.000000,1.1746
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Asn1476Ile/c.4427A>T,aAc/aTc,MODERATE,,0.705272,0.5942,rs7396383,0.2(T),0.0(B),-1.59(N),-1.0414(T),,chr11,1018374,1018374,T,A,hom,missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn1476Ile/c.4427A>T|2439|MUC6|protein_coding|CODING|NM_005961.2|31|1),"CD4:H3K9me1,H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,K562:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.7434,0.8055,0.7763,0.74,0.68,0.77,,,1.000(P),2.19(T),0.0000(T),0.012,0.520251,2.56,0.334,-0.827000,-0.411000,-0.797000,0.008000,0.000000,0.000000,2.287
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Ala1310Ala/c.3930G>A,gcG/gcA,LOW,COSM4145181(1),0.923323,0.881,rs9704308,,,,,,chr11,1019375,1019375,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1310Ala/c.3930G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|30|1),"H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.9151,0.8876,0.9274,0.94,0.97,0.93,,,,,,,,,,,,,,,,
synonymous_variant,MUC6,SILENT,NM_005961.2:p.Asp880Asp/c.2640C>T,gaC/gaT,LOW,,0.0836661,0.0198,rs55965773,,,,,,chr11,1026048,1026048,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp880Asp/c.2640C>T|2439|MUC6|protein_coding|CODING|NM_005961.2|21|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.1053,0.1254,0.1839,0.13,0.03,0.19,,,,,,,,,,,,,,,,
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Val619Met/c.1855G>A,Gtg/Atg,MODERATE,COSM428299(5),0.396965,0.3016,rs7481521,0.3(T),0.772(P),1.735(L),-0.8774(T),,chr11,1027811,1027811,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val619Met/c.1855G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|16|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.318,0.6527,0.5666,0.46,0.29,0.55,,0.015419(U),0.213(P),-1.24(T),0.0000(T),0.172,0.287706,4.71,1.73,0.484000,0.155000,0.415000,0.166000,0.165000,0.815000,7.7901
missense_variant,MUC6,MISSENSE,NM_005961.2:p.Gly395Arg/c.1183G>A,Gga/Aga,MODERATE,COSM4145189(1),0.0423323,0,rs11604757,0.06(T),0.116(B),2.11(M),-1.0619(T),,chr11,1029320,1029320,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly395Arg/c.1183G>A|2439|MUC6|protein_coding|CODING|NM_005961.2|10|1),"H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0194,0.0793,0.1203,0.09,0.02,0.12,,0.972423(N),0.526(P),-0.08(T),0.0038(T),0.112,3.067774,4.56,2.68,0.313000,0.489000,1.681000,0.162000,0.004000,0.091000,9.5498
missense_variant,MUC2,MISSENSE,NM_002457.3:p.Ser1698Leu/c.5093C>T,tCg/tTg,MODERATE,COSM4145277(1),0.486222,0.631,rs11245949,0.27(T),0.0(B),,-0.9534(T),,chr11,1093274,1093274,C,T,het,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser1698Leu/c.5093C>T|2813|MUC2|protein_coding|CODING|NM_002457.3|30|1),"CD4:H4K16ac,H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,K562:H3K36me3,CD4:H4R3me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,GM12878:Srf,HUVEC:DNase1,K562:Cmyc,CD4:H2BK5me1,HUVEC:Cmyc,GM12878:H3K9me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:CTCF,H1ESC:Cmyc",,,,0.4683,0.4899,0.3608,,,,,0.394340(U),1.000(N),"3.13,3.1(T,T)",0.0156(T),0.192,-0.490089,0.851,-1.7,-2.819000,-1.248000,0.256000,0.001000,0.000000,0.000000,5.5277
missense_variant,MUC2,MISSENSE,NM_002457.3:p.Thr1750Asn/c.5249C>A,aCc/aAc,MODERATE,COSM220048(5),0.375998,0.3621,rs199573018,0.09(T),0.003(B),,-0.9653(T),,chr11,1093430,1093430,C,A,het,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr1750Asn/c.5249C>A|2813|MUC2|protein_coding|CODING|NM_002457.3|30|1),"CD4:H4K16ac,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,GM12878:H3K36me3,K562:H3K36me3,CD4:H4R3me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,GM12878:Srf,HUVEC:DNase1,K562:Cmyc,CD4:H2BK5me1,HUVEC:Cmyc,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,K562:Srf,K562:DNase1,H1ESC:Cmyc",,,,0.4233,0.3401,0.3549,,,,,0.001164(U),1.000(N),"2.86,2.8,2.81(T,T,T)",0.0207(T),0.141,-0.147066,1.81,-3.61,0.195000,-0.510000,2.066000,0.003000,0.002000,0.004000,6.4546
synonymous_variant,MUC2,SILENT,NM_002457.3:p.Thr1777Thr/c.5331C>A,acC/acA,LOW,COSM1127913(4),,,rs34493663,,,,,,chr11,1093512,1093512,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1777Thr/c.5331C>A|2813|MUC2|protein_coding|CODING|NM_002457.3|30|1),"CD4:H4K16ac,H1ESC:H3K36me3,CD4:DNase1,GM12878:H3K36me3,K562:H3K36me3,CD4:H4R3me2,H1ESC:H3K27me3,H1ESC:DNase1,GM12878:Srf,HUVEC:DNase1,CD4:H2BK5me1,HUVEC:Cmyc,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC2,MISSENSE,NM_002457.3:p.Gly1807Ser/c.5419G>A,Ggc/Agc,MODERATE,COSM428392(1),0.14397,0.4117,rs74193969,0.72(T),0.0(B),,-0.9588(T),,chr11,1093600,1093600,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1807Ser/c.5419G>A|2813|MUC2|protein_coding|CODING|NM_002457.3|30|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HUVEC:DNase1,CD4:H2BK5me1,HUVEC:Cmyc,NHEK:H3K27me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.1513,0.1398,0.0358,0.03,0.03,0.03,,0.221059(U),1.000(P),"3.2,3.45,2.28(T,T,T)",0.0062(T),0.226,-0.382251,1.71,0.462,-1.373000,-0.046000,-0.389000,0.041000,0.003000,0.000000,5.0135
synonymous_variant,MUC2,SILENT,NM_002457.3:p.Pro1839Pro/c.5517C>G,ccC/ccG,LOW,COSM3752131(1),0.895767,0.9931,rs7944723,,,,,,chr11,1093710,1093710,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1839Pro/c.5517C>G|2813|MUC2|protein_coding|CODING|NM_002457.3|31|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.7975,0.853,0.8091,0.86,0.96,0.81,,,,,,,,,,,,,,,,
synonymous_variant,MUC2,SILENT,NM_002457.3:p.Thr1922Thr/c.5766C>T,acC/acT,LOW,COSM3752132(3),0.754792,0.9325,rs10794291,,,,,,chr11,1094690,1094690,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1922Thr/c.5766C>T|2813|MUC2|protein_coding|CODING|NM_002457.3|32|1),"H1ESC:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7106,0.7363,0.5099,0.60,0.79,0.50,,,,,,,,,,,,,,,,
synonymous_variant,MUC2,SILENT,NM_002457.3:p.Pro1943Pro/c.5829A>C,ccA/ccC,LOW,COSM3752133(2),0.825679,0.9901,rs10794292,,,,,,chr11,1094753,1094753,A,C,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1943Pro/c.5829A>C|2813|MUC2|protein_coding|CODING|NM_002457.3|32|1),"H1ESC:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7771,0.7795,0.5954,0.68,0.87,0.58,,,,,,,,,,,,,,,,
synonymous_variant,MUC2,SILENT,NM_002457.3:p.Cys2169Cys/c.6507T>C,tgT/tgC,LOW,COSM3752134(1),,,rs386602630,,,,,,chr11,1096494,1096494,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys2169Cys/c.6507T>C|2813|MUC2|protein_coding|CODING|NM_002457.3|35|1),"K562:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,0.68,0.88,0.59,,,,,,,,,,,,,,,,
synonymous_variant,MUC2,SILENT,NM_002457.3:p.Pro2550Pro/c.7650T>C,ccT/ccC,LOW,COSM428399(3),0.697284,0.9931,rs386610535,,,,,,chr11,1101649,1101649,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2550Pro/c.7650T>C|2813|MUC2|protein_coding|CODING|NM_002457.3|43|1),"HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6503,0.6196,0.5219,0.55,0.62,0.52,,,,,,,,,,,,,,,,
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Glu34Gly/c.101A>G,gAg/gGg,MODERATE,,0.327476,0.4365,rs2672785,0(D),"0.0,0.0,0.0(B,B,B)",-0.295(N),-0.9126(T),,chr11,1246941,1246941,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu34Gly/c.101A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|2|1),"HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.319,0.2767,0.2406,0.23,0.30,0.20,,,1.000(P),"2.1,2.29(T,T)",0.0000(T),0.049,0.630737,3.05,0.0329,-0.215000,-0.216000,-0.925000,0.001000,0.000000,0.000000,0.5156
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Thr241Thr/c.723G>A,acG/acA,LOW,,0.0607029,0.0456,rs2075855,,,,,,chr11,1248960,1248960,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr241Thr/c.723G>A|5762|MUC5B|protein_coding|CODING|NM_002458.2|7|1),K562:H3K27me3,,,,0.0818,0.1037,0.0765,0.05,0.02,0.06,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Cys355Cys/c.1065C>T,tgC/tgT,LOW,COSM1475165(1),0.392772,0.6052,rs2075859,,,,,,chr11,1250488,1250488,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys355Cys/c.1065C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|9|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3476,0.4366,0.34,0.32,0.26,0.35,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Leu532Leu/c.1596G>C,ctG/ctC,LOW,COSM4145459(2),0.569489,0.6548,rs2735709,,,,,,chr11,1252708,1252708,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu532Leu/c.1596G>C|5762|MUC5B|protein_coding|CODING|NM_002458.2|14|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.5215,0.611,0.498,0.53,0.58,0.50,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Tyr669Tyr/c.2007T>C,taT/taC,LOW,COSM3722637(3),0.544928,0.6548,rs908229,,,,,,chr11,1253942,1253942,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr669Tyr/c.2007T>C|5762|MUC5B|protein_coding|CODING|NM_002458.2|17|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.5225,0.6081,0.498,0.61,0.60,0.61,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Val678Val/c.2034A>G,gtA/gtG,LOW,COSM1352025(11),,,rs72846370,,,,,,chr11,1253969,1253969,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val678Val/c.2034A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|17|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Ser681Gly/c.2041A>G,Agc/Ggc,MODERATE,COSM1352026(7),,,rs76956995,0(D),"0.131,0.675,0.754(B,P,P)",0.715(N),-0.5098(T),,chr11,1253976,1253976,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser681Gly/c.2041A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|17|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,,1.000(N),"-1.03,-1.03(T,T)",0.3243(T),0.139,0.228008,4.6,-7.0,0.260000,-1.098000,-4.642000,0.067000,0.011000,0.000000,10.9271
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Asp682Gly/c.2045A>G,gAc/gGc,MODERATE,COSM1352029(4),,,rs202127660,0(D),"0.0,0.0,0.0(B,B,B)",-0.455(N),-0.9228(T),,chr11,1253980,1253980,A,G,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp682Gly/c.2045A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|17|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,,0.992(N),"-0.99,-0.99(T,T)",0.1596(T),0.115,0.660740,4.6,2.72,-1.983000,0.373000,2.607000,0.070000,0.632000,0.999000,8.6635
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Cys831Cys/c.2493C>T,tgC/tgT,LOW,COSM428646(1),0.339457,0.5982,rs7116614,,,,,,chr11,1255773,1255773,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys831Cys/c.2493C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|21|1),"K562:H3K27me3,IMR90:H3K27me3",,,,0.3078,0.33,0.2883,0.26,0.19,0.29,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Cys1026Cys/c.3078C>T,tgC/tgT,LOW,COSM4145461(1),0.000399361,0,rs80092233,,,,,,chr11,1258175,1258175,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1026Cys/c.3078C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Asn1032Ile/c.3095A>T,aAt/aTt,MODERATE,COSM4145463(1),,,rs76589014,0(D),"0.745,0.929,0.929(P,D,D)",1.805(L),-0.4687(T),,chr11,1258192,1258192,A,T,het,missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn1032Ile/c.3095A>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,0.850(D),"0.16,0.16(T,T)",0.2791(T),0.219,0.413529,4.38,1.98,0.379000,0.548000,2.648000,0.012000,0.226000,0.874000,8.2792
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Asn1032Asn/c.3096T>C,aaT/aaC,LOW,COSM4145466(1),,,rs74904842,,,,,,chr11,1258193,1258193,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1032Asn/c.3096T>C|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Ile1034Val/c.3100A>G,Atc/Gtc,MODERATE,COSM4145467(1),,,rs78674028,0(D),"0.001,0.069,0.1(B,B,B)",1.18(L),-0.9394(T),,chr11,1258197,1258197,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1034Val/c.3100A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"0.33,0.33(T,T)",0.1234(T),0.055,0.010965,4.38,-6.12,-0.464000,-1.926000,-0.502000,0.020000,0.010000,0.000000,8.3806
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Ile1034Ile/c.3102C>T,atC/atT,LOW,COSM4145469(1),,,rs80200632,,,,,,chr11,1258199,1258199,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile1034Ile/c.3102C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Arg1040Arg/c.3120T>G,cgT/cgG,LOW,COSM4145472(1),,,rs74648489,,,,,,chr11,1258217,1258217,T,G,het,synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg1040Arg/c.3120T>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Ser1043Ser/c.3129C>T,tcC/tcT,LOW,COSM4145474(1),0.00419329,0,rs55700357,,,,,,chr11,1258226,1258226,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1043Ser/c.3129C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0.001,,,,,,,,,,,,,,,,,,,
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Ala1048Val/c.3143C>T,gCa/gTa,MODERATE,COSM3752221(1),,,rs77287508,0(D),"0.001,0.001,0.001(B,B,B)",-0.66(N),-0.9778(T),,chr11,1258240,1258240,C,T,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala1048Val/c.3143C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),"2.28,2.48(T,T)",0.0173(T),0.098,0.313418,4.38,-2.84,-0.369000,-0.889000,-0.408000,0.004000,0.000000,0.000000,11.7975
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Ala1048Ala/c.3144A>G,gcA/gcG,LOW,COSM3752223(1),,,rs79773885,,,,,,chr11,1258241,1258241,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1048Ala/c.3144A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Pro1062Pro/c.3186G>A,ccG/ccA,LOW,COSM1352037(6),,,rs78669250,,,,,,chr11,1258283,1258283,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1062Pro/c.3186G>A|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Asp1063Asp/c.3189C>T,gaC/gaT,LOW,COSM1352039(7),,,rs77996005,,,,,,chr11,1258286,1258286,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1063Asp/c.3189C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Ala1066Ala/c.3198A>G,gcA/gcG,LOW,COSM1352040(3),,,rs79118814,,,,,,chr11,1258295,1258295,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1066Ala/c.3198A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|25|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Ser1599Ser/c.4797T>C,agT/agC,LOW,COSM4145489(1),0.204673,0.0615,rs2037089,,,,,,chr11,1262907,1262907,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1599Ser/c.4797T>C|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K36me3,K562:H3K27me3",,,,0.2157,0.2709,0.2078,0.21,0.26,0.19,,,,,,,,,,,,,,,,
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Gly1805Ser/c.5413G>A,Ggc/Agc,MODERATE,COSM3998319(1),0.0654952,0.0496,rs1541314,0(D),"0.426,0.653(B,P)",1.92(M),-1.0775(T),,chr11,1263523,1263523,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1805Ser/c.5413G>A|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),H1ESC:H3K36me3,,,,0.091,0.1095,0.0815,0.05,0.02,0.07,,,1.000(P),"2.28,2.28(T,T)",0.0021(T),0.074,2.308444,4.32,1.15,0.306000,-0.043000,0.480000,0.452000,0.000000,0.003000,7.167
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Pro1889Leu/c.5666C>T,cCa/cTa,MODERATE,,0.11881,0.0526,rs2943510,0(D),"0.022,0.022(B,B)",0.345(N),-1.0180(T),,chr11,1263776,1263776,C,T,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro1889Leu/c.5666C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),H1ESC:H3K36me3,,,,0.1319,0.2147,0.1312,0.12,0.10,0.12,,,1.000(P),"2.15,2.34(T,T)",0.0000(T),0.042,1.504368,2.72,2.72,0.089000,1.534000,0.339000,0.142000,0.001000,0.000000,9.1961
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Phe3072Ser/c.9215T>C,tTc/tCc,MODERATE,COSM3765542(4),0.480631,0.6558,rs55813014,0(D),"0.001,0.0(B,B)",-0.49(N),-0.9721(T),,chr11,1267325,1267325,T,C,hom,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe3072Ser/c.9215T>C|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),,,,,0.4489,0.5576,0.4573,0.30,0.20,0.35,,,1.000(P),"2.24,2.42(T,T)",0.0000(T),0.084,-0.154468,1.82,-0.504,-1.762000,-0.825000,0.258000,0.020000,0.001000,0.000000,6.2501
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Thr3151Met/c.9452C>T,aCg/aTg,MODERATE,,0.340655,0.6012,rs60268710,0(D),"0.029,0.086(B,B)",1.59(L),-0.9778(T),,chr11,1267562,1267562,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr3151Met/c.9452C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),,,,,0.3057,0.33,0.2883,0.26,0.19,0.30,,,1.000(P),"2.08,2.26(T,T)",0.0000(T),0.058,-0.428266,1.73,-3.46,-0.708000,-1.881000,-1.828000,0.017000,0.000000,0.000000,5.8817
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Ser3269Ser/c.9807T>C,tcT/tcC,LOW,COSM1286387(2),,,rs3021163,,,,,,chr11,1267917,1267917,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser3269Ser/c.9807T>C|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Ala4404Gly/c.13211C>G,gCc/gGc,MODERATE,COSM3765550(4),0.451877,0.629,rs2943517,0(D),"0.431,0.528(B,P)",1.7(L),-1.0270(T),,chr11,1271321,1271321,C,G,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala4404Gly/c.13211C>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K27me3,CD4:H2BK5me1",,,,0.4325,0.5447,0.4195,,,,,,1.000(P),"2.28,2.47(T,T)",0.0437(T),0.08,0.038984,2.36,-0.666,-0.706000,-0.552000,-0.172000,0.001000,0.001000,0.000000,5.3307
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Pro4440Leu/c.13319C>T,cCg/cTg,MODERATE,,0.467053,0.6518,rs2943516,0(D),"0.005,0.009(B,B)",1.04(L),-1.0015(T),,chr11,1271429,1271429,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro4440Leu/c.13319C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K27me3,CD4:H2BK5me1",,,,0.4407,0.5476,0.4423,0.39,0.30,0.43,,,1.000(P),"2.25,2.44(T,T)",0.0000(T),0.076,0.209405,2.45,-0.0467,0.298000,0.155000,0.119000,0.002000,0.002000,0.000000,4.2572
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Pro4643Pro/c.13929G>A,ccG/ccA,LOW,COSM3998328(1),0.0628994,0.0466,rs2943513,0.42(T),,,-1.0806(T),,chr11,1272039,1272039,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro4643Pro/c.13929G>A|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K36me3,H1ESC:H3K27me3",,,,0.092,0.1081,0.0815,0.05,0.02,0.07,,,1.000(P),,0.0014(T),.,-0.329842,1.53,-3.06,-1.109000,-3.526000,-8.200000,0.110000,0.000000,0.000000,1.4009
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Thr4706Pro/c.14116A>C,Acc/Ccc,MODERATE,,0.540335,0.6548,rs2943512,0(D),0.0(B),-0.9(N),-0.9241(T),,chr11,1272226,1272226,A,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr4706Pro/c.14116A>C|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K36me3,H1ESC:H3K27me3",,,,0.5204,0.598,0.4831,0.47,0.46,0.47,,,1.000(P),"1.89,2.08(T,T)",0.0000(T),0.042,-0.468828,1.59,-3.18,-2.543000,-2.891000,-9.248000,0.007000,0.000000,0.000000,0.1343
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Thr4712Met/c.14135C>T,aCg/aTg,MODERATE,COSM1352162(3),0.0710863,0.0496,rs2943511,0(D),0.202(B),2.295(M),-1.0850(T),,chr11,1272245,1272245,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr4712Met/c.14135C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K36me3,H1ESC:H3K27me3",,,,0.092,0.1138,0.0974,0.06,0.02,0.07,,,1.000(P),"2.15,2.33(T,T)",0.0013(T),0.03,-0.274526,1.65,-3.31,0.194000,-0.636000,-5.903000,0.080000,0.000000,0.000000,2.2239
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Ala4867Thr/c.14599G>A,Gcc/Acc,MODERATE,COSM3749140(2),0.0652955,0.0506,rs3021155,0(D),"0.058,0.102(B,B)",0.55(N),-0.9893(T),,chr11,1272709,1272709,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala4867Thr/c.14599G>A|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K36me3,H1ESC:H3K27me3",,,,0.091,0.1066,0.0815,0.05,0.02,0.07,,,1.000(P),"2.32,2.47(T,T)",0.0006(T),0.034,0.016851,0.757,-0.459,-0.989000,-0.123000,-5.969000,0.028000,0.000000,0.000000,6.2613
missense_variant,MUC5B,MISSENSE,NM_002458.2:p.Thr4882Ala/c.14644A>G,Acc/Gcc,MODERATE,,0.0658946,0.0496,rs3021156,0(D),"0.048,0.075(B,B)",0.895(L),-1.0231(T),,chr11,1272754,1272754,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr4882Ala/c.14644A>G|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K36me3,H1ESC:H3K27me3",,,,0.091,0.111,0.0825,0.05,0.02,0.07,,,1.000(P),"2.16,2.27(T,T)",0.0009(T),0.075,0.543758,2.44,-1.72,0.254000,-0.234000,-2.134000,0.026000,0.009000,0.000000,3.9262
synonymous_variant,MUC5B,SILENT,NM_002458.2:p.Phe4916Phe/c.14748C>T,ttC/ttT,LOW,,0.338858,0.6052,rs4963059,,,,,,chr11,1272858,1272858,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe4916Phe/c.14748C>T|5762|MUC5B|protein_coding|CODING|NM_002458.2|31|1),"H1ESC:H3K36me3,H1ESC:H3K27me3",,,,0.2945,0.33,0.2853,0.26,0.19,0.29,,,,,,,,,,,,,,,,
synonymous_variant,BRSK2,SILENT,NM_001256630.1:p.Cys19Cys/c.57T>C,tgT/tgC,LOW,,0.277955,0.0278,rs61868960,,,,,,chr11,1432691,1432691,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys19Cys/c.57T>C|766|BRSK2|protein_coding|CODING|NM_001256630.1|1|1),intron_variant(MODIFIER|||c.91+21086T>C|736|BRSK2|protein_coding|CODING|NM_001256627.1|1|1),intron_variant(MODIFIER|||c.91+21086T>C|674|BRSK2|protein_coding|CODING|NM_001256629.1|1|1),intron_variant(MODIFIER|||c.91+21086T>C|668|BRSK2|protein_coding|CODING|NM_003957.3|1|1),intron_variant(MODIFIER|||n.477+21086T>C||BRSK2||CODING|NR_046331.1|1|1),intron_variant(MODIFIER|||c.-90+555T>C|614|BRSK2|protein_coding|CODING|NM_001282218.1|1|1)",,,,,0.2239,0.3141,0.4901,0.46,0.38,0.49,,,,,,,,,,,,,,,,
missense_variant,BRSK2,MISSENSE,NM_001256630.1:p.Thr760Ala/c.2278A>G,Acc/Gcc,MODERATE,COSM4145564(2),,,rs4963048,0.48(T),"0.0,0.0(B,B)",,-0.9407(T),,chr11,1481930,1481930,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr730Ala/c.2188A>G|736|BRSK2|protein_coding|CODING|NM_001256627.1|20|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr760Ala/c.2278A>G|766|BRSK2|protein_coding|CODING|NM_001256630.1|20|1),intron_variant(MODIFIER|||c.*10-270A>G|674|BRSK2|protein_coding|CODING|NM_001256629.1|19|1),intron_variant(MODIFIER|||c.*10-270A>G|614|BRSK2|protein_coding|CODING|NM_001282218.1|19|1),intron_variant(MODIFIER|||c.1988-270A>G|668|BRSK2|protein_coding|CODING|NM_003957.3|19|1),intron_variant(MODIFIER|||n.2469-270A>G||BRSK2||CODING|NR_046331.1|20|1)","H1ESC:H3K36me3,H1ESC:DNase1",,,,,,,,,,,0.167187(N),0.000(P),"-0.47,-0.29(T,T)",0.0000(T),0.049,-1.317557,3.68,-0.577,-3.555000,-0.690000,1.463000,0.379000,0.719000,1.000000,3.4541
missense_variant,MOB2,MISSENSE,NM_053005.5:p.Pro70Arg/c.209C>G,cCg/cGg,MODERATE,,0.940096,0.998,rs10742185,,,,,,chr11,1501670,1501670,G,C,hom,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro70Arg/c.209C>G|231|MOB2|protein_coding|CODING|NM_053005.5|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser106Ser/c.318C>G|268|MOB2|protein_coding|CODING|NM_001172223.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.911,0.8818,0.8797,0.91,0.98,0.88,,,,,,,,,,,,,,,,
missense_variant,MOB2,MISSENSE,NM_053005.5:p.Leu7Pro/c.20T>C,cTa/cCa,MODERATE,COSM4145568(2),0.934305,0.998,rs10767696,,,,,,chr11,1502097,1502097,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu7Pro/c.20T>C|231|MOB2|protein_coding|CODING|NM_053005.5|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro43Pro/c.129T>C|268|MOB2|protein_coding|CODING|NM_001172223.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.911,0.8818,0.8797,0.91,0.95,0.89,,,,,,,,,,,,,,,,
missense_variant,MOB2,MISSENSE,NM_001172223.2:p.Leu19Pro/c.56T>C,cTg/cCg,MODERATE,COSM1133933(1),0.940296,0.998,rs1881503,1(T),0.0(B),-0.895(N),-0.9514(T),,chr11,1507731,1507731,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu19Pro/c.56T>C|268|MOB2|protein_coding|CODING|NM_001172223.2|1|1),"HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K36me3",,,,0.911,0.8833,0.8797,,,,,,0.132(P),1.0(T),0.0000(T),0.055,-1.910707,3.93,3.93,-0.355000,0.805000,2.224000,0.005000,0.823000,1.000000,10.9119
synonymous_variant,KRTAP5-3,SILENT,NM_001012708.2:p.Ser217Ser/c.651C>T,agC/agT,LOW,,0.46266,0.3889,rs57186801,,,,,,chr11,1628965,1628965,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser217Ser/c.651C>T|238|KRTAP5-3|protein_coding|CODING|NM_001012708.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4376,0.4524,0.5239,0.53,0.49,0.55,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP5-3,SILENT,NM_001012708.2:p.Gly208Gly/c.624C>T,ggC/ggT,LOW,COSM4145575(1),0.461062,0.3879,rs60210378,,,,,,chr11,1628992,1628992,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly208Gly/c.624C>T|238|KRTAP5-3|protein_coding|CODING|NM_001012708.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4376,0.4467,0.5239,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP5-3,MISSENSE,NM_001012708.2:p.Gly106Cys/c.316G>T,Ggt/Tgt,MODERATE,,0.000599042,0,rs200037592,1(T),0.975(D),1.48(L),-1.0632(T),,chr11,1629300,1629300,C,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Tgt|p.Gly106Cys/c.316G>T|238|KRTAP5-3|protein_coding|CODING|NM_001012708.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0.0043,0,0.00,0.00,0.00,,,0.985(N),5.1(T),0.0071(T),0.456,-2.220785,2.81,2.81,0.379000,1.522000,-0.005000,0.009000,0.985000,0.011000,9.7414
missense_variant,KRTAP5-5,MISSENSE,NM_001001480.2:p.Arg17Leu/c.50G>T,cGt/cTt,MODERATE,COSM116978(5),,,rs66665994,0.13(T),0.01(B),0(N),-1.1338(T),,chr11,1651120,1651120,G,T,hom,missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg17Leu/c.50G>T|237|KRTAP5-5|protein_coding|CODING|NM_001001480.2|1|1),"GM06990:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(P),5.45(T),0.0000(T),0.222,0.671480,2.63,2.63,0.442000,1.420000,3.925000,0.004000,0.817000,1.000000,9.323
missense_variant,KRTAP5-5,MISSENSE,NM_001001480.2:p.Cys31Arg/c.91T>C,Tgt/Cgt,MODERATE,COSM1352893(4),0.382388,0.2976,rs71454094,0.09(T),0.154(B),2.715(M),-0.9688(T),,chr11,1651161,1651161,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys31Arg/c.91T>C|237|KRTAP5-5|protein_coding|CODING|NM_001001480.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3906,0.379,0.3966,,,,,,0.999(P),4.47(T),0.0000(T),0.148,-0.474941,2.25,0.968,0.368000,0.251000,1.786000,0.093000,0.001000,0.998000,4.9279
synonymous_variant,KRTAP5-5,SILENT,NM_001001480.2:p.Ser33Ser/c.99T>C,tcT/tcC,LOW,COSM1561490(2),0.526957,0.4018,rs71454095,,,,,,chr11,1651169,1651169,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser33Ser/c.99T>C|237|KRTAP5-5|protein_coding|CODING|NM_001001480.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5041,0.4827,0.5527,0.56,0.58,0.55,,,,,,,,,,,,,,,,
missense_variant,KRTAP5-5,MISSENSE,NM_001001480.2:p.Ala53Gly/c.158C>G,gCg/gGg,MODERATE,COSM3722330(5),0.654752,0.4157,rs71454096,0.11(T),0.0(B),-0.895(N),-1.1093(T),,chr11,1651228,1651228,C,G,hom,missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala53Gly/c.158C>G|237|KRTAP5-5|protein_coding|CODING|NM_001001480.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6687,0.6225,0.7406,0.72,0.74,0.71,,,1.000(P),5.36(T),0.0000(T),0.056,-0.178731,2.19,2.19,-0.415000,0.229000,0.000000,0.247000,0.392000,0.123000,7.2847
missense_variant,KRTAP5-5,MISSENSE,NM_001001480.2:p.Ser157Cys/c.470C>G,tCc/tGc,MODERATE,COSM4145583(2),0.527955,0.4067,rs61867581,0(D),0.008(B),2.175(M),-1.0324(T),,chr11,1651540,1651540,C,G,hom,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser157Cys/c.470C>G|237|KRTAP5-5|protein_coding|CODING|NM_001001480.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5031,0.4841,0.5527,0.59,0.63,0.57,,,1.000(P),5.25(T),0.0000(T),0.047,-0.807636,3.67,-0.425,-3.669000,-0.968000,0.393000,0.001000,0.000000,0.000000,3.0339
synonymous_variant,KRTAP5-5,SILENT,NM_001001480.2:p.Cys160Cys/c.480C>T,tgC/tgT,LOW,COSM4145584(2),0.527955,0.4067,rs61867582,,,,,,chr11,1651550,1651550,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys160Cys/c.480C>T|237|KRTAP5-5|protein_coding|CODING|NM_001001480.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HSMM:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5031,0.4841,0.5527,0.59,0.63,0.57,,,,,,,,,,,,,,,,
missense_variant,KRTAP5-5,MISSENSE,NM_001001480.2:p.Pro162His/c.485C>A,cCc/cAc,MODERATE,,0.0748802,0.003,rs147101544,0(D),0.451(P),2.74(M),-0.9860(T),,chr11,1651555,1651555,C,A,het,missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro162His/c.485C>A|237|KRTAP5-5|protein_coding|CODING|NM_001001480.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HSMM:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0184,0.0908,0.1054,0.11,0.13,0.10,,,1.000(P),5.1(T),0.0001(T),0.094,-0.408148,3.84,2.89,0.478000,0.577000,0.883000,0.014000,0.001000,0.002000,6.6355
missense_variant,KRTAP5-6,MISSENSE,NM_001012416.1:p.Cys120Gly/c.358T>G,Tgt/Ggt,MODERATE,,0.114417,0.0139,rs73404785,0.01(D),0.986(D),2.665(M),-1.0531(T),,chr11,1718833,1718833,T,G,het,missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys120Gly/c.358T>G|129|KRTAP5-6|protein_coding|CODING|NM_001012416.1|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1022,0.1023,0.0199,0.10,0.23,0.03,,,0.873(P),2.64(T),0.0000(T),0.153,-0.399277,3.37,3.37,0.429000,1.402000,1.794000,0.081000,0.946000,1.000000,8.1664
synonymous_variant,CTSD,SILENT,NM_001909.4:p.Thr155Thr/c.465T>C,acT/acC,LOW,,0.076278,0.0367,rs11555039,,,,-1.0205(T),,chr11,1780205,1780205,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr155Thr/c.465T>C|412|CTSD|protein_coding|CODING|NM_001909.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116856.2|RCV000124646.1,,0.1074,0.0605,0.0795,0.09,0.10,0.08,,,0.000(P),,0.0023(T),.,1.191211,3.42,-6.7,-0.743000,-0.997000,-3.061000,0.822000,0.970000,0.000000,7.6399
missense_variant,CTSD,MISSENSE,NM_001909.4:p.Ala58Val/c.173C>T,gCg/gTg,MODERATE,,0.0553115,0.0367,rs17571,0.61(T),0.03(B),0.325(N),-1.1289(T),,chr11,1782594,1782594,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala58Val/c.173C>T|412|CTSD|protein_coding|CODING|NM_001909.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116853.2|RCV000124633.1,,0.1043,0.0533,0.0736,0.06,0.03,0.08,,0.011170(N),1.000(P),"0.53,0.74,0.4(T,T,T)",0.0048(T),0.189,0.806716,3.46,-1.74,-2.188000,-0.459000,1.678000,0.008000,0.000000,0.416000,1.3947
missense_variant,SYT8,MISSENSE,NM_001290332.1:p.Cys121Arg/c.361T>C,Tgc/Cgc,MODERATE,,0.983227,1,rs564271,0.83(T),"0.0,0.0,0.0(B,B,B)",-1.92(N),-0.9927(T),,chr11,1857173,1857173,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys121Arg/c.361T>C|402|SYT8|protein_coding|CODING|NM_001290332.1|4|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys120Arg/c.358T>C|401|SYT8|protein_coding|CODING|NM_001290333.1|4|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys119Arg/c.355T>C|400|SYT8|protein_coding|CODING|NM_001290334.1|4|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys120Arg/c.358T>C|401|SYT8|protein_coding|CODING|NM_138567.4|4|1)","HMEC:H3K9ac,NHEK:H3K4me3,HMEC:H3K4me2,K562:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,HMEC:H3K4me3",,,,1,0.9942,1,0.98,0.95,1.00,,,1.000(P),"2.59,2.49,3.3,3.3(T,T,T,T)",0.0000(T),0.565,-2.248970,3.54,-0.0723,-0.684000,-0.159000,-1.036000,0.228000,0.605000,0.000000,0.6767
synonymous_variant,SYT8,SILENT,NM_001290332.1:p.Arg218Arg/c.654T>C,cgT/cgC,LOW,,0.337859,0.3026,rs3741232,,,,-0.9293(T),,chr11,1857747,1857747,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg218Arg/c.654T>C|402|SYT8|protein_coding|CODING|NM_001290332.1|6|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg217Arg/c.651T>C|401|SYT8|protein_coding|CODING|NM_001290333.1|6|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg216Arg/c.648T>C|400|SYT8|protein_coding|CODING|NM_001290334.1|6|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg217Arg/c.651T>C|401|SYT8|protein_coding|CODING|NM_138567.4|6|1)","HMEC:H3K4me2,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4254,0.3732,0.3936,0.34,0.26,0.38,,,1.000(P),,0.0000(T),.,1.219507,2.76,-2.92,-0.642000,-0.731000,-0.940000,0.395000,0.000000,0.000000,3.2335
missense_variant,SYT8,MISSENSE,NM_001290332.1:p.Pro220Ala/c.658C>G,Cca/Gca,MODERATE,,0.337859,0.3026,rs3741231,,,1.93(M),-0.9151(T),,chr11,1857751,1857751,C,G,het,"missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro220Ala/c.658C>G|402|SYT8|protein_coding|CODING|NM_001290332.1|6|1),missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro219Ala/c.655C>G|401|SYT8|protein_coding|CODING|NM_001290333.1|6|1),missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro218Ala/c.652C>G|400|SYT8|protein_coding|CODING|NM_001290334.1|6|1),missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro219Ala/c.655C>G|401|SYT8|protein_coding|CODING|NM_138567.4|6|1)","HMEC:H3K4me2,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4254,0.3732,0.3926,0.34,0.26,0.38,,,0.121(P),,0.0000(T),.,2.675253,3.28,2.33,0.313000,0.459000,1.232000,0.505000,0.015000,0.099000,8.09
missense_variant,SYT8,MISSENSE,NM_001290332.1:p.Thr304Met/c.911C>T,aCg/aTg,MODERATE,COSM1353012(2),0.185503,0.4137,rs484955,0(D),"0.993,0.993(D,D)",3.56(H),-1.0017(T),,chr11,1858262,1858262,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr304Met/c.911C>T|402|SYT8|protein_coding|CODING|NM_001290332.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr303Met/c.908C>T|401|SYT8|protein_coding|CODING|NM_001290333.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr302Met/c.905C>T|400|SYT8|protein_coding|CODING|NM_001290334.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr303Met/c.908C>T|401|SYT8|protein_coding|CODING|NM_138567.4|8|1),upstream_gene_variant(MODIFIER||1971||182|TNNI2|protein_coding|CODING|NM_003282.3||1)","HMEC:H3K4me2,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.1626,0.2262,0.1282,0.10,0.06,0.12,,,0.000(P),"2.72,2.72(T,T)",0.0000(T),0.277,2.354034,3.28,2.34,0.436000,0.720000,2.807000,0.176000,0.051000,0.689000,10.6724
missense_variant,SYT8,MISSENSE,NM_001290332.1:p.Arg374Trp/c.1120C>T,Cgg/Tgg,MODERATE,COSM3749147(6),0.384984,0.378,rs2292474,,,-3.275(N),-0.9481(T),,chr11,1858572,1858572,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg374Trp/c.1120C>T|402|SYT8|protein_coding|CODING|NM_001290332.1|9|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg373Trp/c.1117C>T|401|SYT8|protein_coding|CODING|NM_001290333.1|9|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg372Trp/c.1114C>T|400|SYT8|protein_coding|CODING|NM_001290334.1|9|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg373Trp/c.1117C>T|401|SYT8|protein_coding|CODING|NM_138567.4|9|1),upstream_gene_variant(MODIFIER||1661||182|TNNI2|protein_coding|CODING|NM_003282.3||1)","NHEK:CTCF,HMEC:H3K4me2,HMEC:CTCF,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.5481,0.415,0.498,0.39,0.21,0.48,,,0.000(P),,0.0000(T),.,-0.659353,3.85,2.68,-0.665000,0.174000,3.304000,0.293000,1.000000,1.000000,8.5203
synonymous_variant,LSP1,SILENT,NM_002339.2:p.Ala10Ala/c.30C>T,gcC/gcT,LOW,COSM1561472(1),0.291933,0.4623,rs2089910,,,,,,chr11,1874404,1874404,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala10Ala/c.30C>T|339|LSP1|protein_coding|CODING|NM_002339.2|1|1),"CD4:H3K18ac,GM12878:Pax5,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,CD4:H2BK20ac,GM12878:H3K36me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H4K20me1,GM12878:BCLAF1,CD4:H3K27ac,GM12878:POU2F2,GM12878:ELF1,GM12878:Yy1,GM06990:H3K4me3,GM12878:SP1,GM12878:ZEB1,GM12878:MEF2A,GM12878:EBF,K562:H3K27me3,GM12878:IRF4,NHEK:H3K27me3,GM12878:PolII,GM12878:BCL11A,IMR90:H3K27me3,GM12878:NFKB,CD4:PolII,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,GM12878:PU1,GM06990:DNase1,GM12878:Tcf12",,,,0.1687,0.2795,0.2654,0.24,0.26,0.23,,,,,,,,,,,,,,,,
missense_variant,LSP1,MISSENSE,NM_001242932.1:p.His34Gln/c.102T>A,caT/caA,MODERATE,,0.624401,0.7688,rs7938342,1(T),0.104(B),,-0.9447(T),,chr11,1887806,1887806,T,A,het,"missense_variant(MODERATE|MISSENSE|caT/caA|p.His34Gln/c.102T>A|467|LSP1|protein_coding|CODING|NM_001242932.1|2|1),intron_variant(MODIFIER|||c.53+13379T>A|339|LSP1|protein_coding|CODING|NM_002339.2|1|1)","GM12878:H3K36me3,CD4:H4K20me1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4959,0.7622,0.6322,,,,,,1.000(P),1.73(T),0.0000(T),0.139,1.867727,1.8,-0.645,0.172000,-0.182000,-1.399000,0.672000,0.000000,0.000000,4.2569
missense_variant,LSP1,MISSENSE,NM_001242932.1:p.Ala228Thr/c.682G>A,Gcc/Acc,MODERATE,COSM4145623(1),0.396965,0.5863,rs621679,1(T),"0.009,0.002(B,B)",-0.835(N),-1.0620(T),,chr11,1902768,1902768,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala38Thr/c.112G>A|277|LSP1|protein_coding|CODING|NM_001013253.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala38Thr/c.112G>A|277|LSP1|protein_coding|CODING|NM_001013254.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala38Thr/c.112G>A|277|LSP1|protein_coding|CODING|NM_001013255.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala228Thr/c.682G>A|467|LSP1|protein_coding|CODING|NM_001242932.1|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala38Thr/c.112G>A|277|LSP1|protein_coding|CODING|NM_001289005.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala100Thr/c.298G>A|339|LSP1|protein_coding|CODING|NM_002339.2|3|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2955,0.5418,0.3867,0.33,0.27,0.36,,0.207919(N),1.000(P),"2.0,1.49,1.54,1.93,1.99,1.48,1.98,1.55,1.99,0.79,1.99,1.99(T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.19,-1.859750,2.98,-5.97,-1.783000,-4.340000,-2.012000,0.000000,0.000000,0.000000,1.6488
synonymous_variant,TNNT3,SILENT,NM_006757.3:p.Ile212Ile/c.636T>C,atT/atC,LOW,,0.0461262,0.0139,rs16927166,,,,,,chr11,1956104,1956104,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile204Ile/c.612T>C|250|TNNT3|protein_coding|CODING|NM_001042780.2|13|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile210Ile/c.630T>C|256|TNNT3|protein_coding|CODING|NM_001042781.2|14|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile204Ile/c.612T>C|250|TNNT3|protein_coding|CODING|NM_001042782.2|13|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile204Ile/c.612T>C|250|TNNT3|protein_coding|CODING|NM_001297646.1|14|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile212Ile/c.636T>C|258|TNNT3|protein_coding|CODING|NM_006757.3|14|1)","GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000024567.1|RCV000118646.2,,0.0378,0.0159,0.0109,0.04,0.10,0.01,,,,,,,,,,,,,,,,
synonymous_variant,TNNT3,SILENT,NM_006757.3:p.Gly254Gly/c.762C>T,ggC/ggT,LOW,COSM3752283(2),0.136981,0.3214,rs4727,,,,,,chr11,1959707,1959707,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly246Gly/c.738C>T|250|TNNT3|protein_coding|CODING|NM_001042780.2|15|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly252Gly/c.756C>T|256|TNNT3|protein_coding|CODING|NM_001042781.2|16|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly246Gly/c.738C>T|250|TNNT3|protein_coding|CODING|NM_001042782.2|15|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly246Gly/c.738C>T|250|TNNT3|protein_coding|CODING|NM_001297646.1|16|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly254Gly/c.762C>T|258|TNNT3|protein_coding|CODING|NM_006757.3|16|1)","K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000024568.1|RCV000118647.1,,0.0879,0.0937,0.1819,0.11,0.04,0.15,,,,,,,,,,,,,,,,
missense_variant,INS-IGF2,MISSENSE,NM_001042376.2:p.Leu144Pro/c.431T>C,cTt/cCt,MODERATE,,0.347843,0.3958,rs10770125,0(D),0.166(B),,-1.0659(T),,chr11,2169014,2169014,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu144Pro/c.431T>C|200|INS-IGF2|protein_coding|CODING|NM_001042376.2|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||180|IGF2|protein_coding|CODING|NM_001007139.4|2|1),5_prime_UTR_variant(MODIFIER||12261|c.-225T>C|180|IGF2|protein_coding|CODING|NM_001007139.4|2|1),non_coding_exon_variant(MODIFIER|||n.1960A>G||IGF2-AS||NON_CODING|NR_028044.1|2|1),non_coding_exon_variant(MODIFIER|||n.1170A>G||IGF2-AS||NON_CODING|NR_028043.1|3|1),non_coding_exon_variant(MODIFIER|||n.490T>C||INS-IGF2||CODING|NR_003512.3|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3272,0.5778,0.4563,0.35,0.17,0.43,,,1.000(P),-4.14(D),0.0000(T),0.052,1.966046,3.45,1.14,0.482000,0.228000,0.621000,0.018000,0.003000,0.155000,5.0118
synonymous_variant,TH,SILENT,NM_199292.2:p.Lys271Lys/c.813G>A,aaG/aaA,LOW,COSM3752293(2),0.154553,0.0486,rs6357,,,,,,chr11,2188238,2188238,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys240Lys/c.720G>A|497|TH|protein_coding|CODING|NM_000360.3|7|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys271Lys/c.813G>A|528|TH|protein_coding|CODING|NM_199292.2|8|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys267Lys/c.801G>A|524|TH|protein_coding|CODING|NM_199293.2|8|1)","H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.135,0.1931,0.3032,0.25,0.13,0.31,,,,,,,,,,,,,,,,
missense_variant,TH,MISSENSE,NM_199292.2:p.Val112Met/c.334G>A,Gtg/Atg,MODERATE,COSM3752294(1),0.430511,0.7877,rs6356,0.24(T),"0.006,0.006,0.02,0.005,0.033(B,B,B,B,B)",0.95(L),-0.9496(T),,chr11,2190951,2190951,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val81Met/c.241G>A|497|TH|protein_coding|CODING|NM_000360.3|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val112Met/c.334G>A|528|TH|protein_coding|CODING|NM_199292.2|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val108Met/c.322G>A|524|TH|protein_coding|CODING|NM_199293.2|3|1)","HUVEC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000021078.1,,0.5634,0.3919,0.4026,0.29,0.14,0.36,,0.170143(N),1.000(P),"-4.92,-4.92,-4.92,-4.92(D,D,D,D)",0.0000(T),0.018,2.310931,3.59,-1.8,0.491000,-0.189000,-0.327000,0.948000,0.000000,0.000000,4.7289
synonymous_variant,C11orf21,SILENT,NM_001142946.1:p.Gly113Gly/c.339T>C,ggT/ggC,LOW,,0.210863,0.0704,rs1501466,,,,,,chr11,2320884,2320884,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly113Gly/c.339T>C|178|C11orf21|protein_coding|CODING|NM_001142946.1|4|1),non_coding_exon_variant(MODIFIER|||n.306T>C||C11orf21||CODING|NR_024621.1|3|1)","NHEK:CTCF,K562:CTCF,H1ESC:DNase1,HMEC:CTCF,NHEK:H3K27me3,CD4:H3K4me1,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21",,,,0.1554,0.2262,0.164,0.23,0.36,0.17,,,,,,,,,,,,,,,,
synonymous_variant,C11orf21,SILENT,NM_001142946.1:p.Gly21Gly/c.63A>G,ggA/ggG,LOW,,0.806709,0.4058,rs756924,1(T),0.0(B),,-0.9629(T),,chr11,2323029,2323029,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly21Gly/c.63A>G|178|C11orf21|protein_coding|CODING|NM_001142946.1|1|1),upstream_gene_variant(MODIFIER||214||320|TSPAN32|protein_coding|CODING|NM_139022.2||1),non_coding_exon_variant(MODIFIER|||n.115A>G||C11orf21||CODING|NR_024621.1|1|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:DNase1,CD4:H3K4me3,CD4:H3K27ac,K562:Gabp,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac",,,,0.8783,0.83,0.9264,0.93,0.95,0.93,,,1.000(P),,0.0000(T),.,-0.457256,0.593,-0.474,-0.505000,-1.035000,-0.935000,0.001000,0.000000,0.000000,.
synonymous_variant,TSPAN32,SILENT,NM_139022.2:p.Cys103Cys/c.309C>T,tgC/tgT,LOW,COSM4145634(2),0.63119,0.2698,rs11554947,,,,,,chr11,2329995,2329995,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys103Cys/c.309C>T|320|TSPAN32|protein_coding|CODING|NM_139022.2|4|1),HepG2:H3K27me3,,,,0.7413,0.6686,0.8996,0.81,0.64,0.89,,,,,,,,,,,,,,,,
missense_variant,TSSC4,MISSENSE,NM_001297658.1:p.His274Pro/c.821A>C,cAc/cCc,MODERATE,,0.996605,1,rs2234283,0.61(T),"0.0,0.0(B,B)",-1.95(N),-0.9542(T),,chr11,2424684,2424684,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His274Pro/c.821A>C|329|TSSC4|protein_coding|CODING|NM_001297658.1|4|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His274Pro/c.821A>C|329|TSSC4|protein_coding|CODING|NM_001297659.1|3|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His274Pro/c.821A>C|329|TSSC4|protein_coding|CODING|NM_001297660.1|4|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His274Pro/c.821A>C|329|TSSC4|protein_coding|CODING|NM_005706.3|3|1),missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His210Pro/c.629A>C|265|TSSC4|protein_coding|CODING|NM_001297661.1|4|1),downstream_gene_variant(MODIFIER||1062||1165|TRPM5|protein_coding|CODING|NM_014555.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9899,0.993,0.99,1.00,0.99,,0.134589(N),1.000(P),"2.31,2.57,2.57(T,T,T)",0.0000(T),0.082,-1.294673,3.91,0.662,-0.358000,-0.187000,0.464000,0.172000,0.000000,0.000000,0.5417
synonymous_variant,TRPM5,SILENT,NM_014555.3:p.Gly1094Gly/c.3282T>G,ggT/ggG,LOW,COSM3765560(2),0.774361,0.5387,rs800342,,,,,,chr11,2427291,2427291,A,C,hom,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly1094Gly/c.3282T>G|1165|TRPM5|protein_coding|CODING|NM_014555.3|22|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7955,0.6873,0.8718,0.87,0.89,0.86,,,,,,,,,,,,,,,,
missense_variant,TRPM5,MISSENSE,NM_014555.3:p.Gly900Ser/c.2698G>A,Ggc/Agc,MODERATE,,0.0517173,0.0427,rs34364959,0.82(T),"0.002,0.002,0.002(B,B,B)",-1.7(N),-1.0159(T),,chr11,2432666,2432666,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly900Ser/c.2698G>A|1165|TRPM5|protein_coding|CODING|NM_014555.3|18|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.0123,0.062,0.1133,0.08,0.05,0.09,,0.013686(N),0.947(P),"0.04,0.04,0.04,0.04,0.04(T,T,T,T,T)",0.0010(T),0.043,0.013949,3.89,-4.32,-1.165000,-0.724000,-0.133000,0.715000,0.072000,0.018000,11.7545
synonymous_variant,TRPM5,SILENT,NM_014555.3:p.Thr836Thr/c.2508A>G,acA/acG,LOW,COSM1746183(4),0.33107,0.4643,rs2074234,,,,,,chr11,2432964,2432964,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr836Thr/c.2508A>G|1165|TRPM5|protein_coding|CODING|NM_014555.3|17|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.3221,0.366,0.3509,0.31,0.24,0.35,,,,,,,,,,,,,,,,
missense_variant,TRPM5,MISSENSE,NM_014555.3:p.Val335Leu/c.1003G>T,Gtg/Ttg,MODERATE,,0.0393371,0,rs34350821,0.74(T),"0.998,0.998,0.873(D,D,P)",0.305(N),-1.0124(T),,chr11,2438963,2438963,C,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val335Leu/c.1003G>T|1165|TRPM5|protein_coding|CODING|NM_014555.3|7|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0112,0.0692,0.1292,0.09,0.02,0.12,,0.000004(D),0.035(P),"0.0,0.0,0.0,0.0,0.0(T,T,T,T,T)",0.0026(T),0.341,2.699987,4.05,2.09,0.313000,0.271000,1.974000,0.882000,0.932000,0.996000,6.3181
missense_variant,TRPM5,MISSENSE,NM_014555.3:p.Val254Ala/c.761T>C,gTa/gCa,MODERATE,COSM428853(3),0.843251,0.9008,rs3986599,0.46(T),"0.0,0.0,0.0(B,B,B)",-2.165(N),-1.0117(T),,chr11,2439542,2439542,A,G,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val254Ala/c.761T>C|1165|TRPM5|protein_coding|CODING|NM_014555.3|6|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.8037,0.8444,0.6561,0.75,0.92,0.66,,0.000005(N),1.000(P),"2.75,2.75,2.75,2.75,2.75(T,T,T,T,T)",0.0000(T),0.077,-1.393197,3.42,2.47,-0.320000,0.260000,3.561000,0.209000,0.460000,1.000000,6.9723
synonymous_variant,KCNQ1,SILENT,NM_000218.2:p.Ser546Ser/c.1638G>A,tcG/tcA,LOW,COSM1604458(1),0.180911,0.2927,rs1057128,,,,,,chr11,2797237,2797237,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser546Ser/c.1638G>A|676|KCNQ1|protein_coding|CODING|NM_000218.2|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser419Ser/c.1257G>A|549|KCNQ1|protein_coding|CODING|NM_181798.1|13|1)","H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000035344.1|RCV000126438.1,,0.1728,0.33,0.1978,0.14,0.05,0.19,,,,,,,,,,,,,,,,
synonymous_variant,KCNQ1,SILENT,NM_000218.2:p.Tyr662Tyr/c.1986C>T,taC/taT,LOW,COSM3765562(1),0.0832668,0,rs11601907,,,,,,chr11,2869188,2869188,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr662Tyr/c.1986C>T|676|KCNQ1|protein_coding|CODING|NM_000218.2|16|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr535Tyr/c.1605C>T|549|KCNQ1|protein_coding|CODING|NM_181798.1|16|1)","H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000035345.1|RCV000126443.1,,0.0716,0.1081,0.2386,0.17,0.06,0.23,,,,,,,,,,,,,,,,
missense_variant,SLC22A18AS,MISSENSE,NM_007105.2:p.Gly89Asp/c.266G>A,gGt/gAt,MODERATE,COSM4145646(1),0.613019,0.3958,rs365605,0(D),0.0(B),,-1.0022(T),,chr11,2920666,2920666,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly89Asp/c.266G>A|253|SLC22A18AS|protein_coding|CODING|NM_007105.2|3|1),upstream_gene_variant(MODIFIER||285||424|SLC22A18|protein_coding|CODING|NM_183233.2||1)","NHEK:H3K27ac,IMR90:H2BK120ac,CD4:H3K18ac,NHEK:H3K4me1,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4ac,HeLa-S3:H3K27ac,CD4:H3K4me1,IMR90:H4K91ac,HMEC:H3K4me1,NHEK:H3K4me2,HUVEC:H3K4me1,HUVEC:H3K27ac,NHEK:DNase1",,,,0.591,0.6599,0.663,0.68,0.72,0.66,,,1.000(P),0.89(T),0.0000(T),0.03,-0.481197,1.82,0.512,-1.140000,-0.224000,-0.377000,0.012000,0.000000,0.000000,4.8799
missense_variant,SLC22A18,MISSENSE,NM_002555.5:p.Ala6Thr/c.16G>A,Gct/Act,MODERATE,COSM3752318(2),0.16254,0.005,rs1048046,0.11(T),"0.01,0.01(B,B)",1.39(L),-1.0512(T),,chr11,2924591,2924591,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala6Thr/c.16G>A|424|SLC22A18|protein_coding|CODING|NM_002555.5|2|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala6Thr/c.16G>A|424|SLC22A18|protein_coding|CODING|NM_183233.2|2|1),intron_variant(MODIFIER|||c.-216+98C>T|253|SLC22A18AS|protein_coding|CODING|NM_007105.2|1|1)","HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K27me3,NHEK:H3K4me1,H1ESC:H3K27me3,HepG2:H3K27ac,HepG2:PolII,HMEC:H3K4me2,IMR90:H3K36me3,HepG2:HNF4A,HepG2:H3K4me3,HepG2:FOSL2,NHEK:H3K4me2,HepG2:DNase1,HepG2:H3K27me3,HepG2:Jund,HMEC:H3K4me3",,,,0.1994,0.0951,0.1928,0.21,0.26,0.18,,0.003644(N),1.000(P),"0.52,0.52,2.09,0.52,1.41(T,T,T,T,T)",0.0000(T),0.188,1.699602,2.85,0.666,0.462000,0.533000,0.426000,0.066000,0.001000,0.001000,2.8279
missense_variant,SLC22A18,MISSENSE,NM_002555.5:p.Arg12Gln/c.35G>A,cGg/cAg,MODERATE,COSM3765563(2),0.607628,0.7579,rs1048047,1(T),"0.0,0.0(B,B)",-1.5(N),-0.9592(T),,chr11,2924610,2924610,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg12Gln/c.35G>A|424|SLC22A18|protein_coding|CODING|NM_002555.5|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg12Gln/c.35G>A|424|SLC22A18|protein_coding|CODING|NM_183233.2|2|1),intron_variant(MODIFIER|||c.-216+79C>T|253|SLC22A18AS|protein_coding|CODING|NM_007105.2|1|1)","HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K27me3,NHEK:H3K4me1,H1ESC:H3K27me3,HepG2:H3K27ac,HepG2:PolII,HMEC:H3K4me2,IMR90:H3K36me3,HepG2:HNF4A,HepG2:H3K4me3,HepG2:FOSL2,NHEK:H3K4me2,HepG2:DNase1,HepG2:H3K27me3,HepG2:Jund,HMEC:H3K4me3",,,,0.682,0.5908,0.6014,0.54,0.48,0.58,,0.069164(N),1.000(P),"0.56,0.56,2.32,0.56,1.56(T,T,T,T,T)",0.0000(T),0.147,-0.543878,2.98,-1.5,-0.521000,-0.929000,0.041000,0.079000,0.009000,0.007000,3.9699
synonymous_variant,SLC22A18,SILENT,NM_002555.5:p.Val78Val/c.234A>G,gtA/gtG,LOW,,0.750599,0.8006,rs429886,,,,,,chr11,2929552,2929552,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val78Val/c.234A>G|424|SLC22A18|protein_coding|CODING|NM_002555.5|3|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val78Val/c.234A>G|424|SLC22A18|protein_coding|CODING|NM_183233.2|3|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3",,,,0.7955,0.6902,0.7416,0.73,0.75,0.73,,,,,,,,,,,,,,,,
missense_variant,SLC22A18,MISSENSE,NM_002555.5:p.Trp324Cys/c.972G>C,tgG/tgC,MODERATE,COSM1746198(1),0.129193,0.123,rs1129782,0.03(D),"0.004,0.0(B,B)",-0.345(N),-1.0922(T),,chr11,2943671,2943671,G,C,het,"missense_variant(MODERATE|MISSENSE|tgG/tgC|p.Trp324Cys/c.972G>C|424|SLC22A18|protein_coding|CODING|NM_002555.5|10|1),missense_variant(MODERATE|MISSENSE|tgG/tgC|p.Trp324Cys/c.972G>C|424|SLC22A18|protein_coding|CODING|NM_183233.2|10|1)",,,,,0.2219,0.134,0.2018,0.15,0.04,0.21,,0.778444(N),0.129(P),"0.28,0.28,-1.44,0.28(T,T,T,T)",0.0002(T),0.114,0.170328,4.56,2.49,0.549000,0.867000,0.687000,0.286000,0.749000,0.533000,11.9756
synonymous_variant,PHLDA2,SILENT,NM_003311.3:p.Leu13Leu/c.37T>C,Ttg/Ctg,LOW,COSM428888(1),0.0708866,0.002,rs13390,,,,,,chr11,2950558,2950558,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu13Leu/c.37T>C|152|PHLDA2|protein_coding|CODING|NM_003311.3|1|1),"H1ESC:PolII,CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ap2gamma,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,HeLa-S3:E2F6",,,,0.046,0.0879,0.173,0.14,0.07,0.18,,,,,,,,,,,,,,,,
synonymous_variant,OSBPL5,SILENT,NM_020896.3:p.Thr280Thr/c.840C>T,acC/acT,LOW,COSM3752324(1),0.454073,0.0496,rs3741350,,,,,,chr11,3129027,3129027,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr212Thr/c.636C>T|811|OSBPL5|protein_coding|CODING|NM_001144063.1|7|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr280Thr/c.840C>T|879|OSBPL5|protein_coding|CODING|NM_020896.3|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr212Thr/c.636C>T|811|OSBPL5|protein_coding|CODING|NM_145638.2|7|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5031,0.3617,0.4414,0.53,0.72,0.43,,,,,,,,,,,,,,,,
synonymous_variant,OSBPL5,SILENT,NM_020896.3:p.Cys174Cys/c.522C>T,tgC/tgT,LOW,,0.00439297,0,rs141294610,,,,,,chr11,3141735,3141735,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys174Cys/c.522C>T|879|OSBPL5|protein_coding|CODING|NM_020896.3|6|1),intron_variant(MODIFIER|||c.403-874C>T|811|OSBPL5|protein_coding|CODING|NM_001144063.1|5|1),intron_variant(MODIFIER|||c.403-874C>T|811|OSBPL5|protein_coding|CODING|NM_145638.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.0082,0.0014,0.0109,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,MRGPRE,SILENT,NM_001039165.2:p.Cys67Cys/c.201C>T,tgC/tgT,LOW,,0.225839,0.13,rs11026040,,,,,,chr11,3249829,3249829,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys67Cys/c.201C>T|312|MRGPRE|protein_coding|CODING|NM_001039165.2|2|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.272,0.3213,0.1431,0.17,0.26,0.12,,,,,,,,,,,,,,,,
missense_variant,ZNF195,MISSENSE,NM_001130520.2:p.Pro290Arg/c.869C>G,cCt/cGt,MODERATE,COSM3752340(1),0.223842,0.4067,rs62619253,0(D),"0.023,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",0.135(N),-0.9248(T),,chr11,3381369,3381369,G,C,het,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro267Arg/c.800C>G|606|ZNF195|protein_coding|CODING|NM_001130519.2|5|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro290Arg/c.869C>G|629|ZNF195|protein_coding|CODING|NM_001130520.2|6|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro271Arg/c.812C>G|610|ZNF195|protein_coding|CODING|NM_001242841.1|6|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro245Arg/c.734C>G|584|ZNF195|protein_coding|CODING|NM_001242842.1|6|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro222Arg/c.665C>G|561|ZNF195|protein_coding|CODING|NM_001242843.1|5|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro253Arg/c.758C>G|592|ZNF195|protein_coding|CODING|NM_001256824.1|6|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro222Arg/c.665C>G|561|ZNF195|protein_coding|CODING|NM_001256825.1|5|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro218Arg/c.653C>G|557|ZNF195|protein_coding|CODING|NM_007152.4|4|1),3_prime_UTR_variant(MODIFIER||2429|c.*449C>G|90|ZNF195|protein_coding|CODING|NM_001256823.1|6|1),non_coding_exon_variant(MODIFIER|||n.1199C>G||ZNF195||CODING|NR_040083.1|6|1),non_coding_exon_variant(MODIFIER|||n.1119C>G||ZNF195||CODING|NR_046381.1|7|1),non_coding_exon_variant(MODIFIER|||n.1021C>G||ZNF195||CODING|NR_046382.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2873,0.1167,0.1093,0.13,0.16,0.11,,,0.000(P),"3.39,3.41,3.37,3.37,3.41,3.41,2.49(T,T,T,T,T,T,T)",0.0000(T),0.148,-0.963046,1.11,1.11,-0.824000,-0.436000,2.870000,0.021000,0.001000,0.996000,5.0372
missense_variant,ART5,MISSENSE,NM_001079536.1:p.Thr284Lys/c.851C>A,aCg/aAg,MODERATE,,0.299521,0.2252,rs2271586,0.94(T),0.0(B),-0.895(N),-0.9389(T),,chr11,3659993,3659993,G,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr284Lys/c.851C>A|291|ART5|protein_coding|CODING|NM_001079536.1|5|1),missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr284Lys/c.851C>A|291|ART5|protein_coding|CODING|NM_053017.4|4|1),3_prime_UTR_variant(MODIFIER||53|c.*53C>A|239|ART5|protein_coding|CODING|NM_001297668.1|4|1),downstream_gene_variant(MODIFIER||1204|||TRPC2||NON_CODING|NR_002720.2||1),non_coding_exon_variant(MODIFIER|||n.357C>A||ART5||CODING|NR_123732.1|4|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1667,0.1988,0.1948,0.31,0.53,0.20,,0.168166(N),1.000(P),"3.1,3.1(T,T)",0.0000(T),0.089,-1.747008,5.17,2.8,-0.256000,0.154000,0.781000,0.019000,0.027000,0.352000,2.0378
synonymous_variant,ART5,SILENT,NM_001079536.1:p.Gly173Gly/c.519A>G,ggA/ggG,LOW,,0.990615,1,rs4910876,,,,-1.0082(T),,chr11,3661140,3661140,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly173Gly/c.519A>G|291|ART5|protein_coding|CODING|NM_001079536.1|3|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly173Gly/c.519A>G|291|ART5|protein_coding|CODING|NM_053017.4|2|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly173Gly/c.519A>G|239|ART5|protein_coding|CODING|NM_001297668.1|2|1),intron_variant(MODIFIER|||n.140-115A>G||ART5||CODING|NR_123732.1|1|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.999,1,1,0.99,0.98,1.00,,,0.000(P),,0.0000(T),.,-0.760627,6.04,-1.01,-0.916000,-0.272000,-0.598000,0.208000,0.953000,0.015000,7.0846
missense_variant,ART1,MISSENSE,NM_004314.2:p.Leu257Pro/c.770T>C,cTg/cCg,MODERATE,COSM4145681(1),0.551717,0.2877,rs2280134,,0.0(B),-1.935(N),-1.0219(T),,chr11,3681519,3681519,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu257Pro/c.770T>C|327|ART1|protein_coding|CODING|NM_004314.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6278,0.8141,0.6998,0.61,0.48,0.68,,0.580834(N),1.000(P),3.19(T),0.0000(T),0.074,1.139928,4.99,4.01,-0.213000,1.108000,0.913000,0.976000,0.841000,0.001000,4.8122
synonymous_variant,STIM1,SILENT,NM_001277961.1:p.Gln360Gln/c.1080A>G,caA/caG,LOW,COSM428967(2),0.388978,0.4425,rs2304891,,,,-0.9024(T),,chr11,4103524,4103524,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln360Gln/c.1080A>G|791|STIM1|protein_coding|CODING|NM_001277961.1|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln360Gln/c.1080A>G|540|STIM1|protein_coding|CODING|NM_001277962.1|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln360Gln/c.1080A>G|685|STIM1|protein_coding|CODING|NM_003156.3|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4765,0.4841,0.5676,0.44,0.17,0.57,,,0.000(P),,0.0000(T),.,1.246080,5.49,1.5,-0.375000,0.016000,1.794000,0.985000,0.998000,1.000000,9.4534
synonymous_variant,RRM1,SILENT,NM_001033.3:p.Arg284Arg/c.850C>A,Cga/Aga,LOW,,0.323083,0.378,rs183484,,,,,,chr11,4141132,4141132,C,A,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg284Arg/c.850C>A|792|RRM1|protein_coding|CODING|NM_001033.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3865,0.4366,0.5229,0.39,0.11,0.53,,,,,,,,,,,,,,,,
synonymous_variant,RRM1,SILENT,NM_001033.3:p.Thr741Thr/c.2223A>G,acA/acG,LOW,COSM3998402(3),0.344649,0.3819,rs9937,,,,,,chr11,4159457,4159457,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr741Thr/c.2223A>G|792|RRM1|protein_coding|CODING|NM_001033.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.4424,0.5239,0.41,0.17,0.54,,,,,,,,,,,,,,,,
synonymous_variant,RRM1,SILENT,NM_001033.3:p.Ala744Ala/c.2232G>A,gcG/gcA,LOW,COSM3998403(2),0.845647,0.7619,rs1042858,,,,,,chr11,4159466,4159466,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala744Ala/c.2232G>A|792|RRM1|protein_coding|CODING|NM_001033.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9264,0.8256,0.9294,0.89,0.82,0.93,,,,,,,,,,,,,,,,
synonymous_variant,TRIM21,SILENT,NM_003141.3:p.Gln133Gln/c.399G>A,caG/caA,LOW,COSM3752364(2),0.210463,0.2837,rs926101,,,,,,chr11,4411241,4411241,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln133Gln/c.399G>A|475|TRIM21|protein_coding|CODING|NM_003141.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3098,0.1254,0.1233,0.14,0.16,0.12,,,,,,,,,,,,,,,,
missense_variant,OR52K1,MISSENSE,NM_001005171.2:p.Gln52Arg/c.155A>G,cAg/cGg,MODERATE,COSM147107(2),0.383986,0.3194,rs386624016,0.9(T),0.0(B),-0.95(N),-0.9697(T),,chr11,4510285,4510285,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln52Arg/c.155A>G|314|OR52K1|protein_coding|CODING|NM_001005171.2|1|1),HUVEC:H3K27me3,,,,0.4397,0.2161,0.2952,0.37,0.50,0.30,,0.666991(N),1.000(P),4.1(T),0.0000(T),0.013,-3.197733,3.59,-1.92,-1.221000,-0.754000,-6.840000,0.079000,0.000000,0.000000,7.2622
missense_variant,OR52K1,MISSENSE,NM_001005171.2:p.Arg153Trp/c.457C>T,Cgg/Tgg,MODERATE,,0.220647,0.2282,rs331510,0.01(D),0.034(B),2.57(M),-0.9902(T),,chr11,4510587,4510587,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg153Trp/c.457C>T|314|OR52K1|protein_coding|CODING|NM_001005171.2|1|1),HUVEC:H3K27me3,,,,0.3885,0.1441,0.2416,0.20,0.13,0.23,,0.000957(D),1.000(P),8.9(T),0.0000(T),0.177,0.284441,4.07,2.18,-0.426000,0.661000,-2.560000,0.132000,0.052000,0.000000,7.9006
synonymous_variant,OR52M1,SILENT,NM_001004137.1:p.Asp97Asp/c.291C>T,gaC/gaT,LOW,,0.4373,0.2639,rs2709182,,,,,,chr11,4566711,4566711,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp97Asp/c.291C>T|317|OR52M1|protein_coding|CODING|NM_001004137.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5174,0.3444,0.492,0.51,0.50,0.52,,,,,,,,,,,,,,,,
missense_variant,OR52M1,MISSENSE,NM_001004137.1:p.Ser305Arg/c.915C>G,agC/agG,MODERATE,COSM147108(2),0.425519,0.3046,rs2657167,1(T),0.0(B),-1.39(N),-1.0211(T),,chr11,4567335,4567335,C,G,het,missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser305Arg/c.915C>G|317|OR52M1|protein_coding|CODING|NM_001004137.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4918,0.268,0.3827,0.44,0.54,0.40,,0.000090(N),1.000(P),1.25(T),0.0000(T),0.116,-2.710022,4.91,-2.88,-0.729000,-1.036000,-0.773000,0.202000,0.007000,0.000000,2.3754
missense_variant,OR52I2,MISSENSE,NM_001005170.2:p.Ile74Leu/c.220A>C,Atc/Ctc,MODERATE,,0.225639,0.127,rs12793957,0.38(T),0.001(B),-1.585(N),-1.0712(T),,chr11,4608262,4608262,A,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile74Leu/c.220A>C|350|OR52I2|protein_coding|CODING|NM_001005170.2|1|1),HepG2:H3K27me3,,,,0.2955,0.2839,0.2992,0.20,0.09,0.26,,0.127868(N),1.000(P),6.51(T),0.0000(T),0.052,-1.704217,4.1,-0.464,-0.244000,0.046000,-1.650000,0.088000,0.559000,0.000000,13.6107
missense_variant,OR52I1,MISSENSE,NM_001005169.1:p.Thr41Ile/c.122C>T,aCa/aTa,MODERATE,,0.873602,0.999,rs2010722,0.9(T),0.0(B),-0.955(N),-0.9810(T),,chr11,4615390,4615390,C,T,hom,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr41Ile/c.122C>T|324|OR52I1|protein_coding|CODING|NM_001005169.1|1|1),"CD4:H3K36me3,NHEK:H3K36me3",,,,0.9949,0.9424,0.9891,0.84,0.56,0.98,,0.367052(N),1.000(P),"5.46,5.46(T,T)",0.0000(T),0.045,-0.400466,4.92,-3.18,-0.391000,-1.067000,-1.080000,0.772000,0.001000,0.000000,12.823
synonymous_variant,OR52I1,SILENT,NM_001005169.1:p.Ser80Ser/c.240C>G,tcC/tcG,LOW,COSM3998413(3),0.612021,0.5595,rs2010719,,,,,,chr11,4615508,4615508,C,G,hom,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser80Ser/c.240C>G|324|OR52I1|protein_coding|CODING|NM_001005169.1|1|1),"CD4:H3K36me3,NHEK:H3K36me3",,,,0.6626,0.7046,0.659,0.56,0.46,0.61,,,,,,,,,,,,,,,,
missense_variant,OR51D1,MISSENSE,NM_001004751.2:p.Ile89Val/c.265A>G,Atc/Gtc,MODERATE,COSM3752373(1),0.119209,0.003,rs905871,0.04(D),0.0(B),-0.925(N),-1.0827(T),,chr11,4661285,4661285,A,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile89Val/c.265A>G|324|OR51D1|protein_coding|CODING|NM_001004751.2|1|1),HepG2:H3K27me3,,,,0.1299,0.2046,0.2992,0.25,0.08,0.34,,0.880470(N),1.000(P),7.71(T),0.0000(T),0.011,-1.126930,4.62,-4.42,-2.403000,-1.020000,-1.347000,0.000000,0.000000,0.000000,5.3083
synonymous_variant,OR51E1,SILENT,NM_152430.3:p.Pro273Pro/c.819G>A,ccG/ccA,LOW,COSM3752376(1),0.29353,0.0556,rs3817098,0.22(T),,,-0.9296(T),,chr11,4674575,4674575,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro273Pro/c.819G>A|318|OR51E1|protein_coding|CODING|NM_152430.3|2|1),,,,,0.364,0.4179,0.499,0.44,0.24,0.54,,,1.000(P),1.22(T),0.0000(T),.,1.992606,4.77,-0.309,-0.120000,-0.131000,-1.771000,0.220000,0.952000,0.000000,2.4516
missense_variant,OR51E1,MISSENSE,NM_152430.3:p.Lys299Arg/c.896A>G,aAg/aGg,MODERATE,,0.00379393,0,rs149616162,0.05(D),0.178(B),2.395(M),-0.9287(T),,chr11,4674652,4674652,A,G,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys299Arg/c.896A>G|318|OR51E1|protein_coding|CODING|NM_152430.3|2|1),,,,,0,0.0086,0.0129,0.00,0.00,0.01,,0.000556(D),1.000(D),1.01(T),0.0913(T),0.129,3.025713,4.77,4.77,0.533000,2.141000,3.504000,0.955000,1.000000,0.824000,8.8459
synonymous_variant,OR51E2,SILENT,NM_030774.3:p.Val259Val/c.777G>T,gtG/gtT,LOW,,0.751997,0.8214,rs1123991,,,,,,chr11,4703165,4703165,C,A,hom,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val259Val/c.777G>T|320|OR51E2|protein_coding|CODING|NM_030774.3|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8906,0.768,0.83,0.75,0.57,0.84,,,,,,,,,,,,,,,,
missense_variant,OR51F1,MISSENSE,NM_001004752.1:p.Asp294Tyr/c.880G>T,Gac/Tac,MODERATE,,0.215655,0,rs1030726,1(T),0.0(B),-3.91(N),-0.9080(T),,chr11,4790268,4790268,C,A,het,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp294Tyr/c.880G>T|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2017,0.2704,0.32,0.45,0.25,,0.000106(N),0.000(P),"2.4,2.4(T,T)",0.0000(T),0.12,-0.498507,5.43,5.43,-0.256000,1.085000,6.611000,0.617000,0.992000,1.000000,11.8333
synonymous_variant,OR51F1,SILENT,NM_001004752.1:p.Asn280Asn/c.840T>C,aaT/aaC,LOW,,0.215655,0,rs1030725,,,,,,chr11,4790308,4790308,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn280Asn/c.840T>C|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2017,0.2704,0.32,0.45,0.25,,,,,,,,,,,,,,,,
missense_variant,OR51F1,MISSENSE,NM_001004752.1:p.Ala251Val/c.752C>T,gCt/gTt,MODERATE,,0.0459265,0,rs17324609,0.01(D),0.886(P),1.075(L),-1.1017(T),,chr11,4790396,4790396,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala251Val/c.752C>T|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0143,0.0951,0.1412,0.10,0.03,0.13,,0.559083(N),0.000(P),"1.52,1.52(T,T)",0.0011(T),0.187,3.963905,5.24,5.24,0.655000,2.728000,2.740000,0.923000,0.874000,0.602000,11.8249
synonymous_variant,OR51F1,SILENT,NM_001004752.1:p.His246His/c.738T>C,caT/caC,LOW,,0.215455,0,rs1030724,,,,,,chr11,4790410,4790410,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His246His/c.738T>C|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2017,0.2704,0.32,0.45,0.25,,,,,,,,,,,,,,,,
synonymous_variant,OR51F1,SILENT,NM_001004752.1:p.Leu222Leu/c.666A>G,ttA/ttG,LOW,,0.0459265,0,rs12792898,,,,,,chr11,4790482,4790482,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu222Leu/c.666A>G|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0143,0.0951,0.1412,0.10,0.03,0.13,,,,,,,,,,,,,,,,
synonymous_variant,OR51F1,SILENT,NM_001004752.1:p.Cys191Cys/c.573T>C,tgT/tgC,LOW,,0.0485224,0,rs12788102,,,,,,chr11,4790575,4790575,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys191Cys/c.573T>C|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,Malaria,,,0.0143,0.0965,0.1412,0.11,0.05,0.13,,,,,,,,,,,,,,,,
synonymous_variant,OR51F1,SILENT,NM_001004752.1:p.Leu159Leu/c.477G>A,ttG/ttA,LOW,,0.215655,0,rs11033795,,,,,,chr11,4790671,4790671,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu159Leu/c.477G>A|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2017,0.2704,0.32,0.45,0.25,,,,,,,,,,,,,,,,
synonymous_variant,OR51F1,SILENT,NM_001004752.1:p.Asp130Asp/c.390C>T,gaC/gaT,LOW,,0.233027,0,rs11033796,,,,,,chr11,4790758,4790758,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp130Asp/c.390C>T|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2104,0.2714,0.33,0.49,0.25,,,,,,,,,,,,,,,,
synonymous_variant,OR51F1,SILENT,NM_001004752.1:p.Tyr97Tyr/c.291T>C,taT/taC,LOW,,0.215655,0,rs11033797,,,,,,chr11,4790857,4790857,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr97Tyr/c.291T>C|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2017,0.2704,0.32,0.45,0.25,,,,,,,,,,,,,,,,
missense_variant,OR51F1,MISSENSE,NM_001004752.1:p.Arg67Met/c.200G>T,aGg/aTg,MODERATE,,0.215655,0,rs11033800,1(T),0.0(B),-3.89(N),-0.9516(T),,chr11,4790948,4790948,C,A,het,missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg67Met/c.200G>T|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2017,0.2704,0.32,0.45,0.25,,0.002497(N),1.000(P),"4.07,4.07(T,T)",0.0000(T),0.067,-1.904301,4.81,3.66,-0.346000,0.324000,2.960000,0.608000,0.679000,0.947000,6.5145
missense_variant,OR51F1,MISSENSE,NM_001004752.1:p.Phe66Ser/c.197T>C,tTc/tCc,MODERATE,,0.215655,0,rs11033801,1(T),0.0(B),-1.895(N),-1.0815(T),,chr11,4790951,4790951,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe66Ser/c.197T>C|312|OR51F1|protein_coding|CODING|NM_001004752.1|1|1),,,,,0.0654,0.2017,0.2704,0.32,0.45,0.25,,0.003857(N),1.000(P),"7.37,7.37(T,T)",0.0000(T),0.058,-1.367725,4.81,4.81,-0.197000,1.271000,0.483000,0.712000,0.965000,0.352000,7.3933
missense_variant,OR52R1,MISSENSE,NM_001005177.3:p.Ser245Ala/c.733T>G,Tcc/Gcc,MODERATE,,0.310104,0.0129,rs2053116,0.13(T),0.0(B),0.43(N),-0.9434(T),,chr11,4824878,4824878,A,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser245Ala/c.733T>G|315|OR52R1|protein_coding|CODING|NM_001005177.3|1|1),,,,,0.2178,0.2795,0.3907,0.41,0.52,0.35,,0.004921(N),0.000(P),"1.35,1.35(T,T)",0.0000(T),0.036,1.753870,5.57,4.65,-0.127000,1.609000,0.023000,0.902000,0.984000,0.000000,10.1867
missense_variant,OR52R1,MISSENSE,NM_001005177.3:p.Asn201Tyr/c.601A>T,Aat/Tat,MODERATE,,0.309704,0.0129,rs6578533,1(T),0.0(B),-3.515(N),-0.9106(T),,chr11,4825010,4825010,T,A,het,missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn201Tyr/c.601A>T|315|OR52R1|protein_coding|CODING|NM_001005177.3|1|1),,,,,0.2168,0.2795,0.3907,0.41,0.51,0.35,,0.000407(N),1.000(P),"1.62,1.62(T,T)",0.0000(T),0.065,-1.845698,5.57,4.4,-0.265000,1.130000,1.733000,0.302000,0.753000,0.002000,10.3189
missense_variant,OR52R1,MISSENSE,NM_001005177.3:p.Ile129Thr/c.386T>C,aTc/aCc,MODERATE,COSM3739082(2),0.309305,0.0129,rs7941731,0.01(D),0.662(P),3.915(H),-0.9058(T),,chr11,4825225,4825225,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile129Thr/c.386T>C|315|OR52R1|protein_coding|CODING|NM_001005177.3|1|1),,,,,0.2168,0.2795,0.3897,0.41,0.51,0.35,,0.000122(D),0.000(P),"0.28,0.28(T,T)",0.0000(T),0.465,3.320491,5.42,5.42,0.528000,2.280000,8.942000,0.428000,1.000000,1.000000,14.4289
missense_variant,OR52R1,MISSENSE,NM_001005177.3:p.Phe88Leu/c.262T>C,Ttc/Ctc,MODERATE,,0.0313498,0,rs17327254,0.11(T),0.002(B),0.965(L),-0.9648(T),,chr11,4825349,4825349,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe88Leu/c.262T>C|315|OR52R1|protein_coding|CODING|NM_001005177.3|1|1),,,,,0.0153,0.0548,0.0964,0.07,0.02,0.10,,0.122063(N),0.000(P),"5.55,5.55(T,T)",0.0001(T),0.016,1.922678,5.57,-2.66,0.528000,-0.316000,0.193000,0.944000,0.458000,0.013000,13.3316
missense_variant,OR52R1,MISSENSE,NM_001005177.3:p.Gln27His/c.81G>C,caG/caC,MODERATE,,0.000599042,0,rs61746977,1(T),0.01(B),-0.46(N),-0.7895(T),,chr11,4825530,4825530,C,G,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln27His/c.81G>C|315|OR52R1|protein_coding|CODING|NM_001005177.3|1|1),,,,,0,0,0.003,0.00,0.00,0.00,,0.000437(D),1.000(N),"8.09,8.09(T,T)",0.0001(T),0.182,-3.379513,5.57,-11.1,-0.355000,-4.768000,-6.483000,0.043000,0.000000,0.000000,6.4132
missense_variant,OR51F2,MISSENSE,NM_001004753.1:p.Asp84Gly/c.251A>G,gAc/gGc,MODERATE,,0.0605032,0,rs35003053,0(D),0.991(D),3.54(H),-0.8123(T),,chr11,4842866,4842866,A,G,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp84Gly/c.251A>G|342|OR51F2|protein_coding|CODING|NM_001004753.1|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0194,0.1023,0.163,0.12,0.06,0.15,,0.000666(U),0.000(P),-0.27(T),0.0055(T),0.291,3.656456,4.43,4.43,0.459000,1.991000,5.659000,0.992000,1.000000,1.000000,12.924
missense_variant,OR51S1,MISSENSE,NM_001004758.1:p.Leu264Phe/c.790C>T,Ctc/Ttc,MODERATE,COSM3752406(1),0.299321,0.0675,rs12361955,0(D),0.007(B),-0.17(N),-0.9935(T),,chr11,4869649,4869649,G,A,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu264Phe/c.790C>T|323|OR51S1|protein_coding|CODING|NM_001004758.1|1|1),,,,,0.4008,0.2608,0.4046,0.40,0.35,0.43,,0.019222(N),1.000(P),-0.74(T),0.0000(T),0.091,0.801715,5.25,3.29,0.655000,1.445000,0.704000,0.400000,1.000000,0.000000,8.9594
missense_variant,OR51S1,MISSENSE,NM_001004758.1:p.Pro261Thr/c.781C>A,Cct/Act,MODERATE,,0.00239617,0,rs113028061,0.03(D),0.979(D),1.625(L),0.4966(D),,chr11,4869658,4869658,G,T,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro261Thr/c.781C>A|323|OR51S1|protein_coding|CODING|NM_001004758.1|1|1),,,,,0.002,0.0029,0.008,0.01,0.00,0.01,,0.000342(D),1.000(D),-2.21(D),0.6596(D),0.239,2.218158,5.25,5.25,0.655000,2.729000,1.682000,0.169000,0.917000,0.881000,17.5702
missense_variant,OR51S1,MISSENSE,NM_001004758.1:p.Leu178Arg/c.533T>G,cTc/cGc,MODERATE,,0.501797,0.0942,rs7117260,1(T),0.0(B),-1.855(N),-0.9557(T),,chr11,4869906,4869906,A,C,hom,missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu178Arg/c.533T>G|323|OR51S1|protein_coding|CODING|NM_001004758.1|1|1),,,,,0.7137,0.4135,0.6054,0.62,0.60,0.63,,0.794977(N),0.999(P),1.23(T),0.0000(T),0.021,-1.965406,5.25,-8.88,-2.069000,-2.327000,-5.132000,0.413000,0.000000,0.000000,11.6806
synonymous_variant,OR51S1,SILENT,NM_001004758.1:p.Val100Val/c.300C>T,gtC/gtT,LOW,COSM3752407(1),0.238618,0.0675,rs11602455,,,,,,chr11,4870139,4870139,G,A,hom,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val100Val/c.300C>T|323|OR51S1|protein_coding|CODING|NM_001004758.1|1|1),,,,,0.4018,0.2421,0.4046,0.34,0.17,0.43,,,,,,,,,,,,,,,,
missense_variant,OR51S1,MISSENSE,NM_001004758.1:p.Gln60Glu/c.178C>G,Cag/Gag,MODERATE,COSM3752408(2),0.274161,0.0675,rs11602499,1(T),0.0(B),-1.96(N),-0.9451(T),,chr11,4870261,4870261,G,C,hom,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln60Glu/c.178C>G|323|OR51S1|protein_coding|CODING|NM_001004758.1|1|1),H1ESC:CTCF,,,,0.4151,0.2579,0.4066,0.38,0.28,0.43,,0.019276(N),1.000(P),4.19(T),0.0000(T),0.017,-2.537173,4.85,4.85,-0.215000,1.277000,0.343000,0.102000,0.205000,0.000000,14.1463
missense_variant,OR51S1,MISSENSE,NM_001004758.1:p.Thr52Ser/c.155C>G,aCc/aGc,MODERATE,,0.0497204,0,rs35918613,0.18(T),0.272(B),1.495(L),-1.0243(T),,chr11,4870284,4870284,G,C,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr52Ser/c.155C>G|323|OR51S1|protein_coding|CODING|NM_001004758.1|1|1),H1ESC:CTCF,,,,0.0174,0.0937,0.1481,0.10,0.04,0.14,,0.008005(N),1.000(P),-0.63(T),0.0018(T),0.074,0.363637,5.12,3.21,0.563000,1.390000,0.091000,0.038000,0.006000,0.000000,8.4532
synonymous_variant,OR51S1,SILENT,NM_001004758.1:p.Ala47Ala/c.141A>C,gcA/gcC,LOW,COSM3752409(1),0.16853,0.0675,rs11601065,,,,,,chr11,4870298,4870298,T,G,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala47Ala/c.141A>C|323|OR51S1|protein_coding|CODING|NM_001004758.1|1|1),H1ESC:CTCF,,,,0.3978,0.1441,0.2555,0.21,0.05,0.29,,,,,,,,,,,,,,,,
synonymous_variant,OR51A7,SILENT,NM_001004749.1:p.Ala89Ala/c.267C>T,gcC/gcT,LOW,COSM1561380(3),0.398363,0.0804,rs7941509,,,,,,chr11,4928866,4928866,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala89Ala/c.267C>T|312|OR51A7|protein_coding|CODING|NM_001004749.1|1|1),,,,,0.6922,0.3919,0.6143,0.51,0.30,0.62,,,,,,,,,,,,,,,,
synonymous_variant,OR51G1,SILENT,NM_001005237.1:p.Thr226Thr/c.678C>G,acC/acG,LOW,,0.048722,0,rs34583466,,,,,,chr11,4944892,4944892,G,C,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr226Thr/c.678C>G|321|OR51G1|protein_coding|CODING|NM_001005237.1|1|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.0164,0.0937,0.1441,0.10,0.04,0.13,,,,,,,,,,,,,,,,
missense_variant,OR51G1,MISSENSE,NM_001005237.1:p.Ile195Thr/c.584T>C,aTt/aCt,MODERATE,,0.048722,0,rs12796015,0.35(T),0.002(B),-1.545(N),-1.0527(T),,chr11,4944986,4944986,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile195Thr/c.584T>C|321|OR51G1|protein_coding|CODING|NM_001005237.1|1|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.0164,0.0937,0.1441,0.10,0.04,0.13,,0.171805(U),1.000(P),8.76(T),0.0000(T),0.017,-3.142373,4.41,-3.28,-2.128000,-0.348000,-3.126000,0.016000,0.051000,0.000000,2.7891
missense_variant,OR51G1,MISSENSE,NM_001005237.1:p.Tyr125Ser/c.374A>C,tAc/tCc,MODERATE,,0.657348,0.7222,rs1378739,0(D),0.247(B),2.85(M),-0.9656(T),,chr11,4945196,4945196,T,G,het,missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr125Ser/c.374A>C|321|OR51G1|protein_coding|CODING|NM_001005237.1|1|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.5992,0.6484,0.5686,0.62,0.70,0.58,,0.058922(U),0.000(P),0.4(T),0.0000(T),0.338,1.062863,4.2,2.99,0.455000,1.760000,0.375000,0.061000,0.996000,0.085000,9.0162
missense_variant,OR51G1,MISSENSE,NM_001005237.1:p.Arg124His/c.371G>A,cGc/cAc,MODERATE,,0.0489217,0,rs34742470,0.01(D),0.996(D),3.33(M),-0.6869(T),,chr11,4945199,4945199,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg124His/c.371G>A|321|OR51G1|protein_coding|CODING|NM_001005237.1|1|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0.0164,0.0937,0.1441,0.10,0.04,0.13,,0.001205(U),0.000(P),-1.1(T),0.0163(T),0.106,2.662190,4.2,3.3,-0.232000,0.988000,2.992000,0.119000,1.000000,0.992000,11.0449
stop_gained,OR51G1,NONSENSE,NM_001005237.1:p.Gln102*/c.304C>T,Cag/Tag,HIGH,COSM927721(1),0.000599042,0,rs147552359,0(D),,,,,chr11,4945266,4945266,G,A,het,stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln102*/c.304C>T|321|OR51G1|protein_coding|CODING|NM_001005237.1|1|1),"K562:H3K27me3,HepG2:H3K27me3",,,,0,0,0.003,0.00,0.00,0.00,,0.002162(U),1.000(D),,,.,5.286641,4.2,4.2,0.557000,2.169000,7.393000,0.942000,1.000000,1.000000,15.2651
missense_variant,OR51A4,MISSENSE,NM_001005329.1:p.Thr288Met/c.863C>T,aCg/aTg,MODERATE,,0.848842,0.9107,rs28698374,0.71(T),0.003(B),-2.915(N),-0.9957(T),,chr11,4967468,4967468,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr288Met/c.863C>T|313|OR51A4|protein_coding|CODING|NM_001005329.1|1|1),,,,,0.8221,0.9092,0.836,0.83,0.80,0.85,,,0.000(P),1.23(T),0.0000(T),0.032,-1.494586,3.26,3.26,-0.539000,0.453000,5.389000,0.579000,0.206000,0.712000,7.6849
missense_variant,OR51A4,MISSENSE,NM_001005329.1:p.Arg267Gly/c.799C>G,Cgg/Ggg,MODERATE,COSM147115(2),0.119409,0.0903,rs2595988,0.01(D),0.115(B),0.64(N),-1.0033(T),,chr11,4967532,4967532,G,C,het,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg267Gly/c.799C>G|313|OR51A4|protein_coding|CODING|NM_001005329.1|1|1),,,,,0.1779,0.0793,0.162,0.08,0.05,0.09,,,1.000(P),1.22(T),0.0004(T),0.067,-1.002268,3.44,-6.89,-2.186000,-2.972000,-2.261000,0.012000,0.000000,0.000000,11.4541
missense_variant,OR51A4,MISSENSE,NM_001005329.1:p.Leu227Pro/c.680T>C,cTg/cCg,MODERATE,COSM3998433(2),,,rs28673258,0.01(D),0.981(D),4.28(H),-0.9860(T),,chr11,4967651,4967651,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu227Pro/c.680T>C|313|OR51A4|protein_coding|CODING|NM_001005329.1|1|1),,,,,,,,,,,,,0.007(P),0.99(T),0.0002(T),0.774,2.480485,3.44,3.44,0.392000,1.571000,3.521000,0.966000,0.036000,0.044000,11.2274
missense_variant,OR51A4,MISSENSE,NM_001005329.1:p.Ser218Phe/c.653C>T,tCt/tTt,MODERATE,COSM4145797(1),,,rs12271991,0(D),1.0(D),3.86(H),-1.0993(T),,chr11,4967678,4967678,G,A,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser218Phe/c.653C>T|313|OR51A4|protein_coding|CODING|NM_001005329.1|1|1),,,,,,,,,,,,,1.000(N),0.97(T),0.0071(T),0.29,2.476964,3.44,3.44,0.479000,1.929000,1.603000,0.574000,0.048000,0.058000,14.0448
missense_variant,OR51A4,MISSENSE,NM_001005329.1:p.Gly45Cys/c.133G>T,Ggc/Tgc,MODERATE,,0.859026,0.9107,rs3845246,1(T),0.0(B),-1.17(N),-1.0382(T),,chr11,4968198,4968198,C,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly45Cys/c.133G>T|313|OR51A4|protein_coding|CODING|NM_001005329.1|1|1),,,,,0.8221,0.9107,0.836,0.84,0.83,0.85,,,0.000(P),7.41(T),0.0000(T),0.073,-2.415496,3.53,3.53,-0.411000,0.543000,-0.117000,0.181000,1.000000,0.000000,8.6878
missense_variant,OR51A2,MISSENSE,NM_001004748.1:p.Arg166Thr/c.497G>C,aGa/aCa,MODERATE,,0.086861,0.0069,rs199755920,0.02(D),0.055(B),1.395(L),-1.0676(T),,chr11,4976447,4976447,C,G,het,missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg166Thr/c.497G>C|313|OR51A2|protein_coding|CODING|NM_001004748.1|1|1),,,,,0.0971,0.0865,0.1243,0.20,0.15,0.23,,,1.000(P),-0.6(T),0.0001(T),0.098,0.635312,3.13,-0.611,-0.512000,0.017000,-2.709000,0.007000,0.007000,0.000000,7.4986
missense_variant,OR51A2,MISSENSE,NM_001004748.1:p.Gly59Glu/c.176G>A,gGg/gAg,MODERATE,COSM1628025(2),,,rs112749434,1(T),0.0(B),-3.455(N),-0.9760(T),,chr11,4976768,4976768,C,T,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly59Glu/c.176G>A|313|OR51A2|protein_coding|CODING|NM_001004748.1|1|1),,,,,,,,0.36,0.26,0.41,,,0.000(P),7.01(T),0.0000(T),0.064,-2.538872,2.94,1.75,-1.224000,-0.051000,0.179000,0.027000,0.488000,0.000000,4.0946
missense_variant,OR51A2,MISSENSE,NM_001004748.1:p.Gly45Cys/c.133G>T,Ggc/Tgc,MODERATE,,0.838458,0.8948,rs28482315,1(T),0.0(B),-0.875(N),-0.9898(T),,chr11,4976811,4976811,C,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly45Cys/c.133G>T|313|OR51A2|protein_coding|CODING|NM_001004748.1|1|1),,,,,0.82,0.902,0.8191,,,,,,1.000(P),7.41(T),0.0000(T),0.183,-3.379160,2.94,-1.91,-0.889000,-1.041000,-0.562000,0.026000,0.013000,0.000000,8.1219
synonymous_variant,OR51L1,SILENT,NM_001004755.1:p.Leu68Leu/c.204A>G,ttA/ttG,LOW,,0.826278,0.6696,rs2445290,,,,,,chr11,5020416,5020416,A,G,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu68Leu/c.204A>G|315|OR51L1|protein_coding|CODING|NM_001004755.1|1|1),HepG2:H3K27me3,,,,0.8742,0.8271,0.8718,0.85,0.85,0.85,,,,,,,,,,,,,,,,
synonymous_variant,OR51L1,SILENT,NM_001004755.1:p.Cys99Cys/c.297C>T,tgC/tgT,LOW,COSM3998440(2),0.230631,0.0694,rs11035066,,,,,,chr11,5020509,5020509,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys99Cys/c.297C>T|315|OR51L1|protein_coding|CODING|NM_001004755.1|1|1),HepG2:H3K27me3,,,,0.2669,0.1599,0.3131,0.30,0.31,0.30,,,,,,,,,,,,,,,,
missense_variant,OR51L1,MISSENSE,NM_001004755.1:p.Thr196Ile/c.587C>T,aCc/aTc,MODERATE,COSM3998441(1),0.244209,0.0694,rs10768448,1(T),0.0(B),-2.255(N),-1.0066(T),,chr11,5020799,5020799,C,T,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr196Ile/c.587C>T|315|OR51L1|protein_coding|CODING|NM_001004755.1|1|1),HepG2:H3K27me3,,,,0.2669,0.1643,0.3131,0.31,0.35,0.30,,0.267206(N),1.000(P),8.9(T),0.0000(T),0.03,-3.309023,5.18,4.02,-0.381000,0.411000,0.673000,0.015000,0.002000,0.000000,5.3792
missense_variant,OR51L1,MISSENSE,NM_001004755.1:p.Ala207Val/c.620C>T,gCc/gTc,MODERATE,COSM3998442(1),0.230631,0.0694,rs10768450,1(T),0.002(B),1.055(L),-0.9424(T),,chr11,5020832,5020832,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala207Val/c.620C>T|315|OR51L1|protein_coding|CODING|NM_001004755.1|1|1),HepG2:H3K27me3,,,,0.2669,0.1599,0.3131,0.30,0.31,0.30,,0.374160(N),1.000(P),1.34(T),0.0000(T),0.021,-2.140741,5.18,-4.71,-0.259000,-0.798000,-3.800000,0.379000,0.012000,0.000000,13.7055
missense_variant,OR52J3,MISSENSE,NM_001001916.2:p.Thr77Ala/c.229A>G,Aca/Gca,MODERATE,COSM3752415(2),0.48762,0.2619,rs2500016,0(D),0.606(P),2.28(M),-1.0153(T),,chr11,5067984,5067984,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr77Ala/c.229A>G|311|OR52J3|protein_coding|CODING|NM_001001916.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.5521,0.4971,0.508,0.52,0.55,0.50,,0.042331(N),1.000(P),3.59(T),0.0000(T),0.279,2.736934,4.19,4.19,0.533000,1.742000,0.843000,0.937000,0.986000,0.001000,12.2358
missense_variant,OR52J3,MISSENSE,NM_001001916.2:p.Val128Ile/c.382G>A,Gtc/Atc,MODERATE,COSM3752416(3),0.48762,0.2619,rs2500017,1(T),0.001(B),-2.52(N),-0.9196(T),,chr11,5068137,5068137,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val128Ile/c.382G>A|311|OR52J3|protein_coding|CODING|NM_001001916.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.5521,0.4971,0.508,0.52,0.56,0.50,,0.000211(N),1.000(P),1.73(T),0.0000(T),0.031,-1.494256,4.19,4.19,-0.254000,0.651000,2.872000,0.100000,0.891000,0.985000,8.6796
missense_variant,OR52J3,MISSENSE,NM_001001916.2:p.Gln141Leu/c.422A>T,cAa/cTa,MODERATE,COSM3752417(3),0.48762,0.2619,rs2500018,0.11(T),0.002(B),1(L),-0.9380(T),,chr11,5068177,5068177,A,T,hom,missense_variant(MODERATE|MISSENSE|cAa/cTa|p.Gln141Leu/c.422A>T|311|OR52J3|protein_coding|CODING|NM_001001916.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.5521,0.4971,0.508,0.52,0.56,0.50,,0.907470(N),1.000(P),2.79(T),0.0000(T),0.122,-0.461166,4.19,-5.19,-2.338000,-0.989000,-1.528000,0.001000,0.000000,0.000000,7.2722
missense_variant,OR52J3,MISSENSE,NM_001001916.2:p.Cys181Tyr/c.542G>A,tGt/tAt,MODERATE,COSM3752418(1),0.100639,0.0863,rs58664826,0(D),1.0(D),3.495(M),-1.0666(T),,chr11,5068297,5068297,G,A,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys181Tyr/c.542G>A|311|OR52J3|protein_coding|CODING|NM_001001916.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.0562,0.2767,0.1372,0.09,0.04,0.12,,0.000088(D),0.000(P),0.06(T),0.0006(T),0.414,3.912644,4.19,4.19,0.655000,2.143000,7.316000,0.975000,1.000000,1.000000,15.2669
missense_variant,OR52J3,MISSENSE,NM_001001916.2:p.Val226Ile/c.676G>A,Gtc/Atc,MODERATE,COSM3752419(1),0.222444,0.1081,rs17350764,0.02(D),0.883(P),2.115(M),-0.8589(T),,chr11,5068431,5068431,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val226Ile/c.676G>A|311|OR52J3|protein_coding|CODING|NM_001001916.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.2597,0.3372,0.1829,0.21,0.25,0.19,,0.015504(N),1.000(P),8.51(T),0.0000(T),0.053,1.915057,4.19,3.28,-0.126000,0.970000,0.668000,0.042000,0.924000,0.109000,7.7255
synonymous_variant,OR52J3,SILENT,NM_001001916.2:p.Glu302Glu/c.906A>G,gaA/gaG,LOW,COSM3998443(1),0.488019,0.2619,rs2500019,,,,,,chr11,5068661,5068661,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu302Glu/c.906A>G|311|OR52J3|protein_coding|CODING|NM_001001916.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.5532,0.4971,0.508,0.51,0.55,0.49,,,,,,,,,,,,,,,,
stop_gained,OR52J3,NONSENSE,NM_001001916.2:p.Arg303*/c.907C>T,Cga/Tga,HIGH,,0.113219,0.0863,rs57026471,1(T),,,,,chr11,5068662,5068662,C,T,het,stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg303*/c.907C>T|311|OR52J3|protein_coding|CODING|NM_001001916.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.0562,0.2853,0.1372,0.08,0.06,0.09,,0.909200(N),0.984(P),,,.,1.172462,4.19,-5.75,-1.808000,-0.806000,-3.028000,0.000000,0.000000,0.000000,5.0031
synonymous_variant,OR52E2,SILENT,NM_001005164.2:p.Val304Val/c.912G>A,gtG/gtA,LOW,,0.901158,0.7708,rs2445332,,,,,,chr11,5079946,5079946,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val304Val/c.912G>A|325|OR52E2|protein_coding|CODING|NM_001005164.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.9652,0.9524,0.9414,0.94,0.89,0.96,,,,,,,,,,,,,,,,
missense_variant,OR52E2,MISSENSE,NM_001005164.2:p.Arg264Cys/c.790C>T,Cgc/Tgc,MODERATE,COSM1354284(2),0.510583,0.2619,rs2500052,0(D),0.668(P),3.025(M),-0.9078(T),,chr11,5080068,5080068,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg264Cys/c.790C>T|325|OR52E2|protein_coding|CODING|NM_001005164.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.5521,0.5086,0.5089,0.54,0.62,0.50,,0.004162(N),0.133(P),1.2(T),0.0000(T),0.286,2.636499,3.76,3.76,0.644000,2.425000,0.184000,0.695000,0.937000,0.000000,10.7329
synonymous_variant,OR52E2,SILENT,NM_001005164.2:p.Leu208Leu/c.624A>G,ctA/ctG,LOW,COSM3998444(1),0.304513,0.1746,rs2445333,,,,,,chr11,5080234,5080234,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu208Leu/c.624A>G|325|OR52E2|protein_coding|CODING|NM_001005164.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.4243,0.1599,0.2853,0.32,0.36,0.30,,,,,,,,,,,,,,,,
missense_variant,OR52E2,MISSENSE,NM_001005164.2:p.His174Arg/c.521A>G,cAt/cGt,MODERATE,COSM3752420(1),0.209265,0.0873,rs61746343,0.7(T),0.013(B),0.99(L),-1.1812(T),,chr11,5080337,5080337,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His174Arg/c.521A>G|325|OR52E2|protein_coding|CODING|NM_001005164.2|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.1278,0.3559,0.2237,0.23,0.26,0.21,,0.873832(N),1.000(P),8.78(T),0.0000(T),0.069,-1.156324,3.76,-1.16,-0.262000,-0.211000,-0.595000,0.832000,0.149000,0.000000,8.6192
missense_variant,OR52A1,MISSENSE,NM_012375.2:p.Ser272Pro/c.814T>C,Tcc/Ccc,MODERATE,,0.967652,1,rs10768611,1(T),0.0(B),-1.395(N),-0.9508(T),,chr11,5172786,5172786,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser272Pro/c.814T>C|312|OR52A1|protein_coding|CODING|NM_012375.2|1|1),"K562:H3K27ac,K562:H3K4me1,K562:H3K4me2",,,,1,0.9813,0.999,0.97,0.91,1.00,,0.000138(N),1.000(P),"8.41,8.41(T,T)",0.0000(T),0.032,-1.114835,5.26,4.33,-0.119000,1.470000,0.233000,0.608000,0.161000,0.005000,7.0104
missense_variant,OR51V1,MISSENSE,NM_001004760.2:p.Gly96Trp/c.286G>T,Ggg/Tgg,MODERATE,COSM4145805(1),0.320887,0.1677,rs11512276,0(D),0.999(D),2.805(M),-1.0552(T),,chr11,5221645,5221645,C,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly96Trp/c.286G>T|321|OR51V1|protein_coding|CODING|NM_001004760.2|1|1),,,,,0.317,0.4352,0.4702,0.60,0.39,0.71,,0.059499(N),0.998(P),5.33(T),0.0000(T),0.305,2.205583,5.48,3.64,-0.127000,0.897000,0.474000,0.402000,0.921000,0.000000,5.0748
missense_variant,OR51V1,MISSENSE,NM_001004760.2:p.Leu36Phe/c.106C>T,Ctt/Ttt,MODERATE,,0.596645,0.4921,rs11036212,0.05(D),0.005(B),1.115(L),-0.9676(T),,chr11,5221825,5221825,G,A,hom,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu36Phe/c.106C>T|321|OR51V1|protein_coding|CODING|NM_001004760.2|1|1),,,,,0.5491,0.6628,0.8151,0.73,0.54,0.83,,0.899521(N),1.000(P),6.64(T),0.0000(T),0.033,1.665392,4.88,-9.76,-2.222000,-3.689000,-3.166000,0.007000,0.000000,0.000000,5.5565
synonymous_variant,HBB,SILENT,NM_000518.4:p.His3His/c.9T>C,caT/caC,LOW,,0.714257,0.504,rs713040,,,,,,chr11,5248243,5248243,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His3His/c.9T>C|147|HBB|protein_coding|CODING|NM_000518.4|1|1),,,RCV000016529.1,,0.5746,0.7262,0.83,0.85,0.86,0.84,,,,,,,,,,,,,,,,
missense_variant,OR51B4,MISSENSE,NM_033179.2:p.Met147Thr/c.440T>C,aTg/aCg,MODERATE,,0.442292,0.747,rs10837771,0.4(T),0.015(B),0.835(L),-0.9538(T),,chr11,5322737,5322737,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met147Thr/c.440T>C|310|OR51B4|protein_coding|CODING|NM_033179.2|1|1),K562:H3K36me3,,,,0.5481,0.4582,0.4473,0.34,0.17,0.44,,0.517263(N),1.000(P),1.28(T),0.0000(T),0.022,-0.854514,4.93,2.63,0.533000,0.386000,0.397000,0.055000,0.001000,0.000000,8.3225
missense_variant,OR51B4,MISSENSE,NM_033179.2:p.Val36Ile/c.106G>A,Gtc/Atc,MODERATE,COSM4145808(1),0.680511,0.878,rs7118113,0.23(T),0.004(B),-0.57(N),-0.8981(T),,chr11,5323071,5323071,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val36Ile/c.106G>A|310|OR51B4|protein_coding|CODING|NM_033179.2|1|1),K562:H3K36me3,,,,0.7771,0.7392,0.6918,0.62,0.46,0.71,,0.121369(N),1.000(P),8.62(T),0.0000(T),0.042,0.159254,4.39,0.647,-1.062000,-0.040000,-1.096000,0.000000,0.000000,0.000000,4.0178
synonymous_variant,OR51B2,SILENT,NM_033180.4:p.Thr252Thr/c.756A>G,acA/acG,LOW,COSM3998447(1),0.754992,0.5407,rs10742622,,,,,,chr11,5344772,5344772,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr252Thr/c.756A>G|312|OR51B2|protein_coding|CODING|NM_033180.4|1|1),K562:H3K36me3,,,,0.7751,0.7651,0.9066,0.88,0.81,0.91,,,,,,,,,,,,,,,,
synonymous_variant,OR51B2,SILENT,NM_033180.4:p.Ala227Ala/c.681T>C,gcT/gcC,LOW,COSM3998448(1),0.755192,0.5407,rs10768793,,,,,,chr11,5344847,5344847,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala227Ala/c.681T>C|312|OR51B2|protein_coding|CODING|NM_033180.4|1|1),K562:H3K36me3,,,,0.7751,0.7651,0.9076,0.88,0.81,0.91,,,,,,,,,,,,,,,,
missense_variant,OR51B2,MISSENSE,NM_033180.4:p.Cys209Ser/c.626G>C,tGt/tCt,MODERATE,COSM3998449(1),0.755192,0.5407,rs7937237,1(T),0.0(B),-1.61(N),-1.0032(T),,chr11,5344902,5344902,C,G,hom,missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys209Ser/c.626G>C|312|OR51B2|protein_coding|CODING|NM_033180.4|1|1),K562:H3K36me3,,,,0.7751,0.7651,0.9076,0.88,0.81,0.91,,0.038574(N),1.000(P),1.23(T),0.0000(T),0.011,-2.887518,4.28,-0.95,-0.768000,-0.330000,-0.985000,0.232000,0.001000,0.000000,6.553
missense_variant,OR51B2,MISSENSE,NM_033180.4:p.Leu134Phe/c.400C>T,Ctc/Ttc,MODERATE,COSM3998450(1),0.44349,0.3224,rs10837814,0.01(D),0.918(D),2.965(M),-0.9367(T),,chr11,5345128,5345128,G,A,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu134Phe/c.400C>T|312|OR51B2|protein_coding|CODING|NM_033180.4|1|1),K562:H3K36me3,,,,0.5256,0.4582,0.6074,0.53,0.37,0.61,,0.328903(U),0.000(P),1.92(T),0.0000(T),0.261,1.760017,4.28,3.35,0.644000,1.009000,0.525000,0.065000,0.435000,0.169000,12.2225
missense_variant,OR51B2,MISSENSE,NM_033180.4:p.Cys120Arg/c.358T>C,Tgt/Cgt,MODERATE,COSM3998451(1),0.75599,0.5407,rs7952293,1(T),0.0(B),-2.425(N),-1.0376(T),,chr11,5345170,5345170,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys120Arg/c.358T>C|312|OR51B2|protein_coding|CODING|NM_033180.4|1|1),K562:H3K36me3,,,,0.7761,0.7651,0.9076,0.88,0.81,0.91,,0.001730(N),0.002(P),3.55(T),0.0000(T),0.029,-2.040272,4.28,2.36,-0.765000,0.127000,1.815000,0.553000,0.119000,0.066000,6.6045
synonymous_variant,OR51B2,SILENT,NM_033180.4:p.Gly14Gly/c.42C>T,ggC/ggT,LOW,,0.755591,0.5397,rs4910750,,,,,,chr11,5345486,5345486,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly14Gly/c.42C>T|312|OR51B2|protein_coding|CODING|NM_033180.4|1|1),K562:H3K36me3,,,,0.7751,0.7651,0.9085,0.88,0.81,0.91,,,,,,,,,,,,,,,,
missense_variant,OR51B5,MISSENSE,NM_001005567.2:p.Pro160Leu/c.479C>T,cCc/cTc,MODERATE,,0.32488,0.1786,rs4910551,1(T),0.507(P),-1.87(N),-1.0336(T),,chr11,5364276,5364276,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro160Leu/c.479C>T|312|OR51B5|protein_coding|CODING|NM_001005567.2|5|1),intron_variant(MODIFIER|||n.339-1684C>T||OR51B5||CODING|NR_038321.1|4|1)","IMR90:H2BK120ac,GM06990:H3K27me3,IMR90:H3K56ac,K562:H3K36me3,IMR90:H4K5ac,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4ac,IMR90:H3K27ac,IMR90:H4K91ac,IMR90:H3K18ac,HepG2:H3K27me3,IMR90:H2BK20ac,IMR90:H4K8ac",,,,0.3906,0.402,0.4404,0.39,0.28,0.45,,0.030627(N),1.000(P),5.75(T),0.0000(T),0.103,-0.450089,4.76,1.66,0.650000,0.609000,-0.781000,0.101000,0.003000,0.000000,1.2242
missense_variant,OR51B5,MISSENSE,NM_001005567.2:p.Ile102Thr/c.305T>C,aTa/aCa,MODERATE,COSM4145809(1),0.325679,0.1796,rs11036912,0(D),0.881(P),2.78(M),-0.9097(T),,chr11,5364450,5364450,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile102Thr/c.305T>C|312|OR51B5|protein_coding|CODING|NM_001005567.2|5|1),intron_variant(MODIFIER|||n.339-1858T>C||OR51B5||CODING|NR_038321.1|4|1)","IMR90:H2BK120ac,GM06990:H3K27me3,IMR90:H3K14ac,IMR90:H3K56ac,K562:H3K36me3,IMR90:H4K5ac,IMR90:H3K23ac,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4me1,IMR90:H3K4ac,IMR90:H3K27ac,IMR90:H4K91ac,IMR90:H3K18ac,HepG2:H3K27me3,IMR90:H2BK20ac,IMR90:H4K8ac",,,,0.3926,0.4035,0.4404,0.39,0.28,0.45,,0.000403(D),0.000(P),3.99(T),0.0000(T),0.256,3.513868,4.76,4.76,0.529000,2.017000,2.296000,0.945000,0.849000,0.006000,13.295
synonymous_variant,OR51B6,SILENT,NM_001004750.1:p.Arg48Arg/c.144G>A,agG/agA,LOW,,0.105631,0.0754,rs77135024,,,,,,chr11,5372881,5372881,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg48Arg/c.144G>A|312|OR51B6|protein_coding|CODING|NM_001004750.1|1|1),intron_variant(MODIFIER|||c.-359-4741C>T|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-4741C>T||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.1493,0.1614,0.1541,0.12,0.05,0.15,,,,,,,,,,,,,,,,
missense_variant,OR51B6,MISSENSE,NM_001004750.1:p.Ser126Asn/c.377G>A,aGc/aAc,MODERATE,,0.60643,0.5446,rs5006888,1(T),0.001(B),-1.83(N),-1.0489(T),,chr11,5373114,5373114,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser126Asn/c.377G>A|312|OR51B6|protein_coding|CODING|NM_001004750.1|1|1),intron_variant(MODIFIER|||c.-359-4974C>T|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-4974C>T||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.7239,0.5692,0.6054,0.59,0.58,0.59,,0.000623(N),0.842(P),6.75(T),0.0000(T),0.041,-2.607379,5.01,2.67,-0.556000,0.070000,2.394000,0.030000,0.040000,0.008000,4.9735
missense_variant,OR51B6,MISSENSE,NM_001004750.1:p.Val254Leu/c.760G>C,Gtt/Ctt,MODERATE,COSM4145810(1),0.105431,0.0754,rs7106330,0.04(D),0.098(B),-0.44(N),-1.0654(T),,chr11,5373497,5373497,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val254Leu/c.760G>C|312|OR51B6|protein_coding|CODING|NM_001004750.1|1|1),intron_variant(MODIFIER|||c.-359-5357C>G|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-5357C>G||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.1493,0.1599,0.1541,0.12,0.05,0.15,,0.030580(N),0.999(P),1.47(T),0.0001(T),0.187,1.757108,4.89,3.98,0.557000,1.272000,-0.090000,0.887000,0.793000,0.000000,5.1329
synonymous_variant,OR51B6,SILENT,NM_001004750.1:p.Arg303Arg/c.909T>C,cgT/cgC,LOW,,0.603634,0.5466,rs5024041,,,,,,chr11,5373646,5373646,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg303Arg/c.909T>C|312|OR51B6|protein_coding|CODING|NM_001004750.1|1|1),intron_variant(MODIFIER|||c.-359-5506A>G|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-5506A>G||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.7219,0.5692,0.6054,0.59,0.58,0.60,,,,,,,,,,,,,,,,
missense_variant,OR51M1,MISSENSE,NM_001004756.2:p.His102Gln/c.306T>G,caT/caG,MODERATE,,0.698083,0.5476,rs1498467,0.16(T),,,-1.0255(T),,chr11,5410934,5410934,T,G,het,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His102Gln/c.306T>G|326|OR51M1|protein_coding|CODING|NM_001004756.2|1|1),intron_variant(MODIFIER|||c.-359-42794A>C|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-42794A>C||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.7249,0.7277,0.8241,0.80,0.74,0.83,,0.604434(U),1.000(P),1.25(T),0.0000(T),0.031,-0.135838,5.15,-4.44,-1.234000,-0.728000,-3.276000,0.000000,0.000000,0.000000,2.9741
missense_variant,OR51M1,MISSENSE,NM_001004756.2:p.Leu135Phe/c.403C>T,Ctt/Ttt,MODERATE,,0.698682,0.5486,rs1498468,1(T),,,-0.9629(T),,chr11,5411031,5411031,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu135Phe/c.403C>T|326|OR51M1|protein_coding|CODING|NM_001004756.2|1|1),intron_variant(MODIFIER|||c.-359-42891G>A|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-42891G>A||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.728,0.7277,0.8231,0.80,0.74,0.83,,0.064226(N),0.000(P),1.32(T),0.0000(T),0.043,-0.974717,5.05,5.05,-0.264000,0.947000,4.491000,0.279000,0.990000,0.604000,7.469
missense_variant,OR51M1,MISSENSE,NM_001004756.2:p.Ile204Thr/c.611T>C,aTc/aCc,MODERATE,,0.714457,0.5476,rs1498469,1(T),,,-1.0270(T),,chr11,5411239,5411239,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile204Thr/c.611T>C|326|OR51M1|protein_coding|CODING|NM_001004756.2|1|1),intron_variant(MODIFIER|||c.-359-43099A>G|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-43099A>G||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.728,0.7349,0.8231,0.81,0.78,0.83,,0.003470(N),0.789(P),9.05(T),0.0000(T),0.022,-1.760733,5.26,4.34,-0.119000,0.782000,-0.611000,0.158000,0.146000,0.000000,9.3428
missense_variant,OR51M1,MISSENSE,NM_001004756.2:p.Pro256His/c.767C>A,cCt/cAt,MODERATE,,0.71226,0.5387,rs9783355,1(T),,,-1.0768(T),,chr11,5411395,5411395,C,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro256His/c.767C>A|326|OR51M1|protein_coding|CODING|NM_001004756.2|1|1),intron_variant(MODIFIER|||c.-359-43255G>T|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-43255G>T||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.728,0.7349,0.8231,0.81,0.78,0.83,,0.003190(N),0.000(P),9.37(T),0.0000(T),0.058,-0.410268,5.24,5.24,-0.256000,1.021000,6.718000,0.528000,0.984000,1.000000,11.525
synonymous_variant,OR51M1,SILENT,NM_001004756.2:p.Lys317Lys/c.951G>A,aaG/aaA,LOW,,0.714457,0.5476,rs10768906,,,,,,chr11,5411579,5411579,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys317Lys/c.951G>A|326|OR51M1|protein_coding|CODING|NM_001004756.2|1|1),intron_variant(MODIFIER|||c.-359-43439C>T|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-43439C>T||OR51B5||CODING|NR_038321.1|1|1)","K562:H3K36me3,GM06990:CTCF",,,,0.728,0.7349,0.8231,0.81,0.78,0.83,,,,,,,,,,,,,,,,
missense_variant,OR51M1,MISSENSE,NM_001004756.2:p.Phe318Leu/c.952T>C,Ttc/Ctc,MODERATE,,0.714457,0.5476,rs10768907,1(T),,,-0.9780(T),,chr11,5411580,5411580,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe318Leu/c.952T>C|326|OR51M1|protein_coding|CODING|NM_001004756.2|1|1),intron_variant(MODIFIER|||c.-359-43440A>G|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.85-43440A>G||OR51B5||CODING|NR_038321.1|1|1)","K562:H3K36me3,GM06990:CTCF",,,,0.728,0.7349,0.8231,0.81,0.78,0.83,,0.537447(N),1.000(P),1.54(T),0.0000(T),0.022,-1.910607,4.85,-7.92,-0.242000,-1.475000,-1.075000,0.144000,0.000000,0.000000,6.02
missense_variant,OR51I1,MISSENSE,NM_001005288.2:p.Ala252Ser/c.754G>T,Gcc/Tcc,MODERATE,,0.303315,0.1319,rs1498486,0.02(D),0.5(P),1.68(L),-1.2890(T),,chr11,5461991,5461991,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala252Ser/c.754G>T|314|OR51I1|protein_coding|CODING|NM_001005288.2|1|1),intron_variant(MODIFIER|||c.-360+64808G>T|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+64808G>T||OR51B5||CODING|NR_038321.1|1|1)",K562:H3K36me3,,,,0.3415,0.464,0.5368,0.43,0.20,0.55,,0.000035(D),1.000(P),8.65(T),0.0000(T),0.149,3.039566,5.47,1.46,0.551000,0.682000,-0.682000,0.973000,0.258000,0.000000,7.2519
synonymous_variant,OR51I2,SILENT,NM_001004754.2:p.Gly40Gly/c.120G>T,ggG/ggT,LOW,COSM1354368(2),0.402157,0.2589,rs2030094,,,,,,chr11,5474838,5474838,G,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly40Gly/c.120G>T|312|OR51I2|protein_coding|CODING|NM_001004754.2|1|1),intron_variant(MODIFIER|||c.-360+51961C>A|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+51961C>A||OR51B5||CODING|NR_038321.1|1|1)","K562:PolII,K562:H3K36me3,HepG2:H3K27me3",,,,0.3456,0.4539,0.5,0.49,0.47,0.51,,,,,,,,,,,,,,,,
synonymous_variant,OR51I2,SILENT,NM_001004754.2:p.Ser293Ser/c.879C>T,agC/agT,LOW,COSM3752446(1),0.171925,0.0417,rs11037503,,,,,,chr11,5475597,5475597,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser293Ser/c.879C>T|312|OR51I2|protein_coding|CODING|NM_001004754.2|1|1),intron_variant(MODIFIER|||c.-360+51202G>A|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+51202G>A||OR51B5||CODING|NR_038321.1|1|1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.18,0.3012,0.3718,0.28,0.10,0.38,,,,,,,,,,,,,,,,
synonymous_variant,OR52D1,SILENT,NM_001005163.2:p.Ser116Ser/c.348A>G,tcA/tcG,LOW,,0.950479,0.9246,rs417425,,,,,,chr11,5510284,5510284,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser116Ser/c.348A>G|318|OR52D1|protein_coding|CODING|NM_001005163.2|1|1),intron_variant(MODIFIER|||c.-360+16515T>C|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+16515T>C||OR51B5||CODING|NR_038321.1|1|1)","K562:PolII,K562:H3K36me3,K562:H3K79me2,HepG2:H3K27me3",,,,0.9816,0.9726,0.9742,0.96,0.94,0.97,,,,,,,,,,,,,,,,
synonymous_variant,OR52D1,SILENT,NM_001005163.2:p.Tyr135Tyr/c.405C>T,taC/taT,LOW,,0.525359,0.6071,rs404280,,,,,,chr11,5510341,5510341,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr135Tyr/c.405C>T|318|OR52D1|protein_coding|CODING|NM_001005163.2|1|1),intron_variant(MODIFIER|||c.-360+16458G>A|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+16458G>A||OR51B5||CODING|NR_038321.1|1|1)","K562:PolII,K562:H3K36me3,K562:H3K79me2,HepG2:H3K27me3",,,,0.6022,0.5836,0.5944,0.54,0.38,0.62,,,,,,,,,,,,,,,,
synonymous_variant,OR52D1,SILENT,NM_001005163.2:p.Ile187Ile/c.561T>C,atT/atC,LOW,,0.948283,0.9246,rs2467219,,,,,,chr11,5510497,5510497,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile187Ile/c.561T>C|318|OR52D1|protein_coding|CODING|NM_001005163.2|1|1),intron_variant(MODIFIER|||c.-360+16302A>G|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+16302A>G||OR51B5||CODING|NR_038321.1|1|1)","K562:PolII,K562:H3K36me3,K562:H3K79me2,HepG2:H3K27me3",,,,0.9806,0.9712,0.9742,0.96,0.94,0.97,,,,,,,,,,,,,,,,
synonymous_variant,OR52D1,SILENT,NM_001005163.2:p.His230His/c.690T>C,caT/caC,LOW,,0.948482,0.9246,rs444878,,,,,,chr11,5510626,5510626,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His230His/c.690T>C|318|OR52D1|protein_coding|CODING|NM_001005163.2|1|1),intron_variant(MODIFIER|||c.-360+16173A>G|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+16173A>G||OR51B5||CODING|NR_038321.1|1|1)","K562:PolII,K562:H3K36me3,K562:H3K79me2",,,,0.9816,0.9712,0.9742,0.96,0.94,0.97,,,,,,,,,,,,,,,,
missense_variant,OR52D1,MISSENSE,NM_001005163.2:p.Ile251Thr/c.752T>C,aTc/aCc,MODERATE,COSM3752448(1),0.154353,0.0397,rs7101919,0(D),0.99(D),3.255(M),-0.7829(T),,chr11,5510688,5510688,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile251Thr/c.752T>C|318|OR52D1|protein_coding|CODING|NM_001005163.2|1|1),intron_variant(MODIFIER|||c.-360+16111A>G|312|OR51B5|protein_coding|CODING|NM_001005567.2|1|1),intron_variant(MODIFIER|||n.84+16111A>G||OR51B5||CODING|NR_038321.1|1|1)","K562:PolII,K562:H3K36me3,K562:H3K79me2",,,,0.1564,0.2767,0.3111,0.25,0.10,0.32,,0.000003(D),0.000(P),8.52(T),0.0000(T),0.231,3.454892,5.58,5.58,0.533000,2.343000,2.095000,0.480000,0.964000,0.268000,14.7227
missense_variant,UBQLN3,MISSENSE,NM_017481.2:p.Arg624Gln/c.1871G>A,cGg/cAg,MODERATE,COSM429159(4),0.183906,0.0516,rs2227271,0.04(D),0.025(B),0.98(L),-0.9328(T),,chr11,5528918,5528918,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg624Gln/c.1871G>A|655|UBQLN3|protein_coding|CODING|NM_017481.2|2|1),HepG2:H3K27me3,,,,0.1973,0.3329,0.3698,0.29,0.10,0.38,,0.014599(N),1.000(P),1.82(T),0.0000(T),0.036,1.052279,5.14,1.23,0.655000,0.429000,0.537000,0.979000,0.213000,0.001000,6.8446
synonymous_variant,UBQLN3,SILENT,NM_017481.2:p.Ala550Ala/c.1650A>G,gcA/gcG,LOW,COSM3752450(1),0.188898,0.0526,rs2234456,,,,,,chr11,5529139,5529139,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala550Ala/c.1650A>G|655|UBQLN3|protein_coding|CODING|NM_017481.2|2|1),"K562:H3K4me1,HepG2:H3K27me3",,,,0.2055,0.3314,0.3837,0.30,0.10,0.40,,,,,,,,,,,,,,,,
synonymous_variant,UBQLN3,SILENT,NM_017481.2:p.Ser308Ser/c.924C>T,tcC/tcT,LOW,,0.986222,1,rs186434,,,,,,chr11,5529865,5529865,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser308Ser/c.924C>T|655|UBQLN3|protein_coding|CODING|NM_017481.2|2|1),"K562:CTCF,HepG2:H3K27me3",,,,1,1,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,UBQLNL,SILENT,NM_145053.4:p.Glu419Glu/c.1257G>A,gaG/gaA,LOW,COSM3998461(1),0.288538,0.371,rs10769023,,,,,,chr11,5536415,5536415,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu419Glu/c.1257G>A|475|UBQLNL|protein_coding|CODING|NM_145053.4|1|1),,,,,0.2679,0.3184,0.2614,0.27,0.25,0.27,,,,,,,,,,,,,,,,
missense_variant,UBQLNL,MISSENSE,NM_145053.4:p.Trp379Gly/c.1135T>G,Tgg/Ggg,MODERATE,,0.969848,1,rs393044,0.49(T),0.0(B),-1.61(N),-1.0059(T),,chr11,5536537,5536537,A,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp379Gly/c.1135T>G|475|UBQLNL|protein_coding|CODING|NM_145053.4|1|1),,,,,0.999,0.9942,1,0.98,0.93,1.00,,0.599927(N),1.000(P),0.93(T),0.0000(T),0.03,-1.671193,5.0,-0.375,-0.729000,-0.089000,0.086000,0.050000,0.000000,0.000000,1.044
missense_variant,UBQLNL,MISSENSE,NM_145053.4:p.Ala275Val/c.824C>T,gCt/gTt,MODERATE,COSM147120(3),0.532149,0.3988,rs2017433,0.26(T),0.011(B),0.425(N),-0.9860(T),,chr11,5536848,5536848,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala275Val/c.824C>T|475|UBQLNL|protein_coding|CODING|NM_145053.4|1|1),,,,,0.6299,0.6138,0.7266,0.62,0.44,0.71,,0.474605(N),1.000(P),0.74(T),0.0000(T),0.035,-0.232954,5.09,2.19,0.655000,0.298000,0.594000,0.007000,0.000000,0.000000,4.4088
missense_variant,UBQLNL,MISSENSE,NM_145053.4:p.Tyr274His/c.820T>C,Tat/Cat,MODERATE,COSM3927699(3),0.320887,0.375,rs2017434,0.01(D),0.425(B),2.75(M),-1.0083(T),,chr11,5536852,5536852,A,G,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr274His/c.820T>C|475|UBQLNL|protein_coding|CODING|NM_145053.4|1|1),,,,,0.2679,0.3487,0.2644,0.30,0.34,0.28,,0.145300(N),1.000(P),0.23(T),0.0000(T),0.139,0.651206,5.09,3.94,-0.313000,0.925000,1.024000,0.002000,0.003000,0.002000,8.8448
synonymous_variant,UBQLNL,SILENT,NM_145053.4:p.Pro209Pro/c.627A>C,ccA/ccC,LOW,COSM3998462(1),0.321086,0.375,rs872751,,,,,,chr11,5537045,5537045,T,G,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro209Pro/c.627A>C|475|UBQLNL|protein_coding|CODING|NM_145053.4|1|1),,,,,0.2689,0.3487,0.2644,0.30,0.34,0.28,,,,,,,,,,,,,,,,
missense_variant,UBQLNL,MISSENSE,NM_145053.4:p.Cys171Arg/c.511T>C,Tgc/Cgc,MODERATE,COSM3998463(1),0.315695,0.376,rs2047456,0.22(T),0.0(B),-0.345(N),-0.9590(T),,chr11,5537161,5537161,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys171Arg/c.511T>C|475|UBQLNL|protein_coding|CODING|NM_145053.4|1|1),,,,,0.2689,0.3487,0.2555,0.29,0.32,0.27,,0.130137(N),1.000(P),0.9(T),0.0000(T),0.024,-2.103227,4.87,-3.1,-0.140000,-0.345000,-0.203000,0.007000,0.000000,0.001000,3.4562
missense_variant,OR52H1,MISSENSE,NM_001005289.1:p.Cys242Arg/c.724T>C,Tgc/Cgc,MODERATE,,0.890974,0.9196,rs1995158,1(T),0.0(B),-2.5(N),-0.9562(T),,chr11,5566030,5566030,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys242Arg/c.724T>C|320|OR52H1|protein_coding|CODING|NM_001005289.1|1|1),HepG2:H3K27me3,,,,0.9223,0.8415,0.8002,0.85,0.93,0.81,,0.013441(N),1.000(P),9.45(T),0.0000(T),0.019,-3.501119,5.22,1.2,-1.670000,-0.255000,-0.391000,0.001000,0.038000,0.000000,7.0829
missense_variant,OR52H1,MISSENSE,NM_001005289.1:p.Gly235Cys/c.703G>T,Ggc/Tgc,MODERATE,COSM3998467(1),0.38139,0.0853,rs1995157,0.1(T),0.062(B),0.935(L),-1.1342(T),,chr11,5566051,5566051,C,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly235Cys/c.703G>T|320|OR52H1|protein_coding|CODING|NM_001005289.1|1|1),HepG2:H3K27me3,,,,0.2996,0.513,0.5775,0.56,0.46,0.61,,0.694575(N),1.000(P),8.7(T),0.0000(T),0.057,-1.333725,5.37,5.37,-0.127000,1.277000,0.044000,0.291000,0.975000,0.000000,8.9214
synonymous_variant,OR52H1,SILENT,NM_001005289.1:p.Thr214Thr/c.642G>A,acG/acA,LOW,COSM3998468(2),0.384185,0.0853,rs1995156,,,,,,chr11,5566112,5566112,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr214Thr/c.642G>A|320|OR52H1|protein_coding|CODING|NM_001005289.1|1|1),HepG2:H3K27me3,,,,0.2986,0.5115,0.5775,0.55,0.46,0.61,,,,,,,,,,,,,,,,
missense_variant,OR52H1,MISSENSE,NM_001005289.1:p.His130Arg/c.389A>G,cAc/cGc,MODERATE,,0.889377,0.9196,rs1566275,1(T),0.0(B),-3.445(N),-0.9241(T),,chr11,5566365,5566365,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His130Arg/c.389A>G|320|OR52H1|protein_coding|CODING|NM_001005289.1|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.9223,0.8415,0.8002,0.85,0.92,0.81,,0.000004(N),0.000(P),3.55(T),0.0000(T),0.044,-1.396385,5.55,4.63,-1.820000,0.326000,2.569000,0.417000,0.984000,0.034000,16.5875
missense_variant,OR52H1,MISSENSE,NM_001005289.1:p.Ala89Thr/c.265G>A,Gca/Aca,MODERATE,COSM3998469(1),0.38738,0.0853,rs10769054,0.19(T),0.0(B),-0.455(N),-0.9787(T),,chr11,5566489,5566489,C,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala89Thr/c.265G>A|320|OR52H1|protein_coding|CODING|NM_001005289.1|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2996,0.5144,0.5775,0.56,0.46,0.61,,0.376211(N),0.194(P),4.08(T),0.0000(T),0.014,1.119258,5.56,2.04,-0.269000,0.088000,-0.302000,0.854000,0.985000,0.000000,5.3019
missense_variant,OR52B6,MISSENSE,NM_001005162.2:p.Leu111His/c.332T>A,cTc/cAc,MODERATE,,0.715056,0.9802,rs2341432,0.15(T),0.0(B),0.03(N),-0.9669(T),,chr11,5602438,5602438,T,A,het,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu111His/c.332T>A|335|OR52B6|protein_coding|CODING|NM_001005162.2|1|1),"K562:SP1,K562:DNase1",,,,0.6922,0.67,0.4761,0.55,0.70,0.47,,0.536805(N),1.000(P),6.64(T),0.0000(T),0.072,-0.045281,5.15,2.71,-0.265000,0.400000,0.473000,0.293000,0.000000,0.000000,5.9086
missense_variant,OR52B6,MISSENSE,NM_001005162.2:p.His170Arg/c.509A>G,cAc/cGc,MODERATE,,0.716653,0.9802,rs2341434,1(T),0.0(B),-3.525(N),-0.9571(T),,chr11,5602615,5602615,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His170Arg/c.509A>G|335|OR52B6|protein_coding|CODING|NM_001005162.2|1|1),"K562:SP1,K562:DNase1",,,,0.6922,0.67,0.4761,0.55,0.70,0.47,,0.024042(N),0.354(P),1.26(T),0.0000(T),0.055,-2.090174,5.15,5.15,-0.128000,1.413000,1.843000,0.023000,0.154000,0.745000,9.9359
synonymous_variant,OR52B6,SILENT,NM_001005162.2:p.Asn191Asn/c.573T>C,aaT/aaC,LOW,,0.716454,0.9792,rs892336,,,,,,chr11,5602679,5602679,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn191Asn/c.573T>C|335|OR52B6|protein_coding|CODING|NM_001005162.2|1|1),,,,,0.6922,0.67,0.4761,0.55,0.70,0.47,,,,,,,,,,,,,,,,
synonymous_variant,OR52B6,SILENT,NM_001005162.2:p.Leu228Leu/c.684A>G,ctA/ctG,LOW,,0.716853,0.9802,rs2163946,,,,,,chr11,5602790,5602790,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu228Leu/c.684A>G|335|OR52B6|protein_coding|CODING|NM_001005162.2|1|1),,,,,0.6933,0.67,0.4761,0.55,0.71,0.47,,,,,,,,,,,,,,,,
synonymous_variant,OR52B6,SILENT,NM_001005162.2:p.Ala274Ala/c.822G>C,gcG/gcC,LOW,,0.715855,0.9792,rs10838375,,,,,,chr11,5602928,5602928,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala274Ala/c.822G>C|335|OR52B6|protein_coding|CODING|NM_001005162.2|1|1),,,,,0.6933,0.67,0.4761,0.55,0.71,0.47,,,,,,,,,,,,,,,,
missense_variant,OR52B6,MISSENSE,NM_001005162.2:p.Val288Ile/c.862G>A,Gtc/Atc,MODERATE,,0.894569,0.9931,rs10769086,1(T),0.009(B),-0.15(N),-0.9028(T),,chr11,5602968,5602968,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val288Ile/c.862G>A|335|OR52B6|protein_coding|CODING|NM_001005162.2|1|1),,,,,0.8384,0.8833,0.7604,0.82,0.95,0.75,,0.001241(N),1.000(P),8.74(T),0.0000(T),0.021,-2.537708,4.82,0.634,-0.332000,-0.330000,-1.782000,0.076000,0.000000,0.000000,0.8788
synonymous_variant,TRIM6-TRIM34,SILENT,NM_001003819.3:p.Lys197Lys/c.591A>G,aaA/aaG,LOW,,0.69988,0.7212,rs3751006,,,,,,chr11,5625847,5625847,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys197Lys/c.591A>G|516|TRIM6|protein_coding|CODING|NM_001003818.2|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys197Lys/c.591A>G|842|TRIM6-TRIM34|protein_coding|CODING|NM_001003819.3|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys169Lys/c.507A>G|488|TRIM6|protein_coding|CODING|NM_058166.4|3|1),5_prime_UTR_variant(MODIFIER||726|c.-19A>G|313|TRIM6|protein_coding|CODING|NM_001198644.1|2|1),intron_variant(MODIFIER|||c.-6-720A>G|313|TRIM6|protein_coding|CODING|NM_001198645.1|1|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8027,0.6556,0.5865,0.66,0.72,0.62,,,,,,,,,,,,,,,,
synonymous_variant,TRIM6,SILENT,NM_001003818.2:p.Leu397Leu/c.1191G>A,ctG/ctA,LOW,,0.789137,0.998,rs10769124,,,,,,chr11,5632212,5632212,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu397Leu/c.1191G>A|516|TRIM6|protein_coding|CODING|NM_001003818.2|8|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu194Leu/c.582G>A|313|TRIM6|protein_coding|CODING|NM_001198644.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu194Leu/c.582G>A|313|TRIM6|protein_coding|CODING|NM_001198645.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu369Leu/c.1107G>A|488|TRIM6|protein_coding|CODING|NM_058166.4|8|1),intron_variant(MODIFIER|||c.985+421G>A|842|TRIM6-TRIM34|protein_coding|CODING|NM_001003819.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9734,0.7622,0.662,0.69,0.63,0.71,,,,,,,,,,,,,,,,
synonymous_variant,TRIM5,SILENT,NM_033034.2:p.Leu159Leu/c.477A>G,ttA/ttG,LOW,,0.811901,0.8304,rs3740995,,,,,,chr11,5700340,5700340,T,C,hom,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu159Leu/c.477A>G|493|TRIM5|protein_coding|CODING|NM_033034.2|3|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu159Leu/c.477A>G|347|TRIM5|protein_coding|CODING|NM_033092.2|3|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu159Leu/c.477A>G|326|TRIM5|protein_coding|CODING|NM_033093.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.862,0.8012,0.8559,0.81,0.71,0.85,,,1.000(P),,,.,-0.052157,3.75,0.605,-0.733000,-0.076000,-0.650000,0.001000,0.000000,0.000000,3.0823
missense_variant,TRIM5,MISSENSE,NM_033034.2:p.Arg136Gln/c.407G>A,cGg/cAg,MODERATE,COSM3752493(1),0.184904,0.0784,rs10838525,,,-1.77(N),-0.9731(T),,chr11,5701001,5701001,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg136Gln/c.407G>A|493|TRIM5|protein_coding|CODING|NM_033034.2|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg136Gln/c.407G>A|347|TRIM5|protein_coding|CODING|NM_033092.2|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg136Gln/c.407G>A|326|TRIM5|protein_coding|CODING|NM_033093.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1646,0.2349,0.3847,0.28,0.14,0.35,,,1.000(P),,0.0000(T),.,-2.061954,4.07,0.203,-0.295000,0.015000,0.761000,0.001000,0.000000,0.000000,4.1195
synonymous_variant,TRIM22,SILENT,NM_006074.4:p.His100His/c.300T>C,caT/caC,LOW,COSM3998480(1),0.394369,0.1766,rs10838543,,,,,,chr11,5717762,5717762,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His100His/c.300T>C|494|TRIM22|protein_coding|CODING|NM_001199573.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His100His/c.300T>C|498|TRIM22|protein_coding|CODING|NM_006074.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5051,0.415,0.5209,0.46,0.38,0.50,,,,,,,,,,,,,,,,
missense_variant,TRIM22,MISSENSE,NM_006074.4:p.Arg242Thr/c.725G>C,aGg/aCg,MODERATE,COSM147127(3),0.426917,0.2054,rs1063303,0.06(T),"0.016,0.0,0.009,0.003(B,B,B,B)",1.04(L),-0.9769(T),,chr11,5719750,5719750,G,C,hom,"missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg242Thr/c.725G>C|498|TRIM22|protein_coding|CODING|NM_006074.4|4|1),missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg238Thr/c.713G>C|494|TRIM22|protein_coding|CODING|NM_001199573.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.593,0.4553,0.5398,0.51,0.40,0.57,,,1.000(P),"3.51,3.51(T,T)",0.0000(T),0.236,1.345247,3.53,-2.15,-0.384000,-0.378000,-0.177000,0.001000,0.000000,0.000000,8.0653
missense_variant,OR56B1,MISSENSE,NM_001005180.2:p.Cys106Arg/c.316T>C,Tgc/Cgc,MODERATE,,0.739617,0.748,rs7397032,0.01(D),0.999(D),4(H),-1.0159(T),,chr11,5758062,5758062,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys106Arg/c.316T>C|324|OR56B1|protein_coding|CODING|NM_001005180.2|1|1),,,,,0.7996,0.6571,0.833,0.80,0.68,0.86,,0.000172(U),0.000(P),6.67(T),0.0000(T),0.492,3.591444,5.91,4.78,0.533000,1.060000,5.965000,0.918000,0.995000,1.000000,10.2392
synonymous_variant,OR56B1,SILENT,NM_001005180.2:p.Leu124Leu/c.372A>C,ctA/ctC,LOW,,0.851837,0.8909,rs7396766,,,,,,chr11,5758118,5758118,A,C,hom,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu124Leu/c.372A>C|324|OR56B1|protein_coding|CODING|NM_001005180.2|1|1),,,,,0.9059,0.7839,0.9433,0.89,0.76,0.96,,,,,,,,,,,,,,,,
missense_variant,OR52N4,MISSENSE,NM_001005175.3:p.Thr106Ile/c.317C>T,aCc/aTc,MODERATE,,0.922125,0.9067,rs7936512,1(T),0.0(B),-2.24(N),-1.0224(T),,chr11,5776287,5776287,C,T,hom,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr106Ile/c.317C>T|321|OR52N4|protein_coding|CODING|NM_001005175.3|1|1),,,,,0.9724,0.8746,0.9712,0.95,0.90,0.97,,0.044447(N),1.000(P),4.19(T),0.0000(T),0.16,-1.873770,5.97,2.21,-0.381000,-0.107000,0.453000,0.480000,0.000000,0.000000,9.9955
missense_variant,OR52N4,MISSENSE,NM_001005175.3:p.Leu167Arg/c.500T>G,cTc/cGc,MODERATE,,0.891773,0.9067,rs7394584,1(T),0.001(B),-2.1(N),-1.0032(T),,chr11,5776470,5776470,T,G,hom,missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu167Arg/c.500T>G|321|OR52N4|protein_coding|CODING|NM_001005175.3|1|1),,,,,0.9724,0.8703,0.9682,0.92,0.81,0.97,,0.079081(N),1.000(P),8.87(T),0.0000(T),0.221,-3.025323,5.85,1.9,-0.933000,-0.080000,-0.346000,0.003000,0.010000,0.000000,6.4935
missense_variant,OR52N4,MISSENSE,NM_001005175.3:p.Trp209Gly/c.625T>G,Tgg/Ggg,MODERATE,,0.182508,0.2341,rs12363178,0.08(T),0.0(B),-2.1(N),-1.0212(T),,chr11,5776595,5776595,T,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp209Gly/c.625T>G|321|OR52N4|protein_coding|CODING|NM_001005175.3|1|1),,,,,0.2219,0.1542,0.1581,0.17,0.15,0.18,,0.000231(N),0.000(P),1.27(T),0.0000(T),0.09,-0.688422,6.1,6.1,-0.127000,1.609000,0.358000,0.093000,0.984000,0.000000,15.7994
missense_variant,OR52N4,MISSENSE,NM_001005175.3:p.Asn218Ile/c.653A>T,aAc/aTc,MODERATE,,0.895767,0.9067,rs7396938,0.57(T),0.0(B),-2.39(N),-0.9600(T),,chr11,5776623,5776623,A,T,hom,missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn218Ile/c.653A>T|321|OR52N4|protein_coding|CODING|NM_001005175.3|1|1),,,,,0.9724,0.8703,0.9702,0.92,0.82,0.97,,0.914515(N),1.000(P),1.46(T),0.0000(T),0.128,-1.902232,6.1,3.8,-1.074000,0.188000,2.624000,0.002000,0.069000,0.063000,1.4919
missense_variant,OR52N1,MISSENSE,NM_001001913.1:p.Phe247Ile/c.739T>A,Ttc/Atc,MODERATE,,0.923922,0.9067,rs7934670,0.95(T),0.0(B),-2.3(N),-0.9741(T),,chr11,5809308,5809308,A,T,hom,missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe247Ile/c.739T>A|320|OR52N1|protein_coding|CODING|NM_001001913.1|1|1),,,,,0.9765,0.8804,0.9712,0.94,0.89,0.97,,0.000609(N),0.000(P),1.44(T),0.0000(T),0.053,-0.424724,4.71,3.5,-0.311000,0.927000,-0.195000,0.861000,0.998000,0.004000,2.59
synonymous_variant,OR52N1,SILENT,NM_001001913.1:p.Ser190Ser/c.570T>C,tcT/tcC,LOW,COSM3998484(2),0.321685,0.2004,rs10838637,,,,,,chr11,5809477,5809477,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser190Ser/c.570T>C|320|OR52N1|protein_coding|CODING|NM_001001913.1|1|1),,,,,0.2863,0.2738,0.332,0.35,0.43,0.31,,,,,,,,,,,,,,,,
missense_variant,OR52N1,MISSENSE,NM_001001913.1:p.Arg167Cys/c.499C>T,Cgc/Tgc,MODERATE,,0.551717,0.7054,rs7948009,0.01(D),0.082(B),2.285(M),-0.9367(T),,chr11,5809548,5809548,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg167Cys/c.499C>T|320|OR52N1|protein_coding|CODING|NM_001001913.1|1|1),,,,,0.6902,0.5908,0.6382,0.55,0.33,0.66,,0.008107(N),0.000(P),8.59(T),0.0000(T),0.173,0.745558,4.59,1.38,0.609000,0.618000,-2.131000,0.182000,0.979000,0.000000,3.8534
missense_variant,OR52N1,MISSENSE,NM_001001913.1:p.Cys125Tyr/c.374G>A,tGt/tAt,MODERATE,COSM3998485(2),0.321685,0.2004,rs10769224,1(T),0.0(B),-2.9(N),-0.9391(T),,chr11,5809673,5809673,C,T,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys125Tyr/c.374G>A|320|OR52N1|protein_coding|CODING|NM_001001913.1|1|1),,,,,0.2863,0.2738,0.332,0.35,0.43,0.31,,0.009313(N),0.000(P),2.0(T),0.0000(T),0.108,-2.437657,4.58,2.13,-0.326000,0.018000,0.193000,0.091000,0.875000,0.030000,5.1575
missense_variant,OR52N1,MISSENSE,NM_001001913.1:p.Ala101Thr/c.301G>A,Gcc/Acc,MODERATE,COSM3998486(2),0.321885,0.2004,rs10742787,1(T),0.003(B),0.075(N),-0.9360(T),,chr11,5809746,5809746,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala101Thr/c.301G>A|320|OR52N1|protein_coding|CODING|NM_001001913.1|1|1),,,,,0.2863,0.2738,0.332,0.35,0.43,0.31,,0.108285(N),0.192(P),4.08(T),0.0000(T),0.039,-1.671662,4.59,1.53,-0.921000,-0.010000,-2.069000,0.146000,0.731000,0.000000,3.9046
missense_variant,OR52N2,MISSENSE,NM_001005174.1:p.Gly46Arg/c.136G>A,Ggg/Agg,MODERATE,,0.0407348,0.001,rs73394370,0.09(T),0.992(D),2.66(M),-1.0426(T),,chr11,5841701,5841701,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly46Arg/c.136G>A|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.0399,0.0259,0.0467,0.07,0.08,0.07,,0.000012(D),1.000(N),2.15(T),0.0100(T),0.285,2.083840,5.91,5.91,0.655000,2.801000,-0.155000,0.489000,0.953000,0.000000,8.7296
synonymous_variant,OR52N2,SILENT,NM_001005174.1:p.Thr71Thr/c.213T>A,acT/acA,LOW,,0.0407348,0.001,rs73394374,,,,,,chr11,5841778,5841778,T,A,het,synonymous_variant(LOW|SILENT|acT/acA|p.Thr71Thr/c.213T>A|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.0399,0.0259,0.0467,0.07,0.08,0.07,,,,,,,,,,,,,,,,
synonymous_variant,OR52N2,SILENT,NM_001005174.1:p.Asn97Asn/c.291C>T,aaC/aaT,LOW,,0.738618,0.6687,rs4758435,,,,,,chr11,5841856,5841856,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn97Asn/c.291C>T|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.7669,0.7133,0.8191,0.79,0.75,0.81,,,,,,,,,,,,,,,,
missense_variant,OR52N2,MISSENSE,NM_001005174.1:p.Ala121Thr/c.361G>A,Gcc/Acc,MODERATE,,0.0407348,0.001,rs73394377,0(D),0.899(P),4.04(H),-0.3890(T),,chr11,5841926,5841926,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala121Thr/c.361G>A|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.0399,0.0259,0.0467,0.07,0.08,0.07,,0.000015(D),1.000(D),0.59(T),0.0587(T),0.358,5.228929,5.91,5.91,0.655000,2.801000,6.504000,0.946000,1.000000,1.000000,18.8574
synonymous_variant,OR52N2,SILENT,NM_001005174.1:p.Arg172Arg/c.516G>A,cgG/cgA,LOW,,0.0407348,0.001,rs73394378,,,,,,chr11,5842081,5842081,G,A,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg172Arg/c.516G>A|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.0399,0.0259,0.0467,0.07,0.08,0.07,,,,,,,,,,,,,,,,
missense_variant,OR52N2,MISSENSE,NM_001005174.1:p.Ser249Ala/c.745T>G,Tcc/Gcc,MODERATE,COSM3998489(1),0.502995,0.4702,rs8181529,0.32(T),0.0(B),-2.315(N),-1.0657(T),,chr11,5842310,5842310,T,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser249Ala/c.745T>G|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.5245,0.5086,0.5845,0.57,0.47,0.62,,0.000057(N),0.000(P),8.86(T),0.0000(T),0.031,-0.153283,6.09,6.09,-0.132000,1.605000,1.663000,0.012000,0.986000,0.097000,15.7694
missense_variant,OR52N2,MISSENSE,NM_001005174.1:p.Val255Gly/c.764T>G,gTt/gGt,MODERATE,,0.0407348,0.002,rs74377989,0.03(D),0.139(B),1.925(M),-1.0745(T),,chr11,5842329,5842329,T,G,het,missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val255Gly/c.764T>G|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.0399,0.0259,0.0467,0.07,0.08,0.07,,0.000183(D),0.984(N),1.16(T),0.0082(T),0.23,0.644505,6.09,4.96,0.523000,1.109000,0.723000,0.012000,0.036000,0.000000,12.5707
missense_variant,OR52N2,MISSENSE,NM_001005174.1:p.His264Arg/c.791A>G,cAt/cGt,MODERATE,COSM3998490(1),0.454273,0.4692,rs8181512,0(D),0.984(D),3.16(M),-0.9972(T),,chr11,5842356,5842356,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His264Arg/c.791A>G|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.4877,0.4813,0.5368,0.49,0.37,0.55,,0.000032(D),0.000(P),8.75(T),0.0000(T),0.319,2.552601,6.09,6.09,0.523000,2.336000,4.960000,0.014000,0.428000,0.457000,15.4925
missense_variant,OR52N2,MISSENSE,NM_001005174.1:p.Asn273Lys/c.819C>G,aaC/aaG,MODERATE,,0.0405351,0.001,rs62621415,0.73(T),0.027(B),-0.205(N),-1.0610(T),,chr11,5842384,5842384,C,G,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn273Lys/c.819C>G|321|OR52N2|protein_coding|CODING|NM_001005174.1|1|1),,,,,0.0399,0.0259,0.0467,0.07,0.08,0.07,,0.000857(D),1.000(N),8.79(T),0.0000(T),0.037,-2.582695,6.09,2.64,0.643000,0.604000,-3.145000,0.037000,0.052000,0.000000,3.572
stop_lost,OR52E8,MISSENSE,NM_001005168.1:p.Ter318Tyrext*?/c.954A>T,taA/taT,HIGH,COSM3998493(1),0.3748,0.373,rs12419602,,,,,,chr11,5877979,5877979,T,A,het,stop_lost(HIGH|MISSENSE|taA/taT|p.Ter318Tyrext*?/c.954A>T|317|OR52E8|protein_coding|CODING|NM_001005168.1|1|1),,,,,0.316,0.4135,0.4085,0.41,0.39,0.42,,,1.000(P),,,.,-0.399348,3.16,-1.13,-0.398000,-0.300000,-0.134000,0.030000,0.000000,0.000000,3.9181
missense_variant,OR52E8,MISSENSE,NM_001005168.1:p.Ile33Phe/c.97A>T,Att/Ttt,MODERATE,,0.0213658,0,rs111407817,0(D),0.111(B),0.925(L),-0.9194(T),,chr11,5878836,5878836,T,A,het,missense_variant(MODERATE|MISSENSE|Att/Ttt|p.Ile33Phe/c.97A>T|317|OR52E8|protein_coding|CODING|NM_001005168.1|1|1),,,,,0.0399,0.0231,0.0497,0.05,0.01,0.07,,0.002802(N),1.000(D),4.05(T),0.0010(T),0.241,0.870245,4.35,3.18,0.448000,0.776000,0.525000,0.062000,1.000000,0.986000,10.0638
missense_variant,OR52E4,MISSENSE,NM_001005165.1:p.Val176Ile/c.526G>A,Gta/Ata,MODERATE,,0.779553,0.8254,rs4758168,1(T),0.001(B),-2.225(N),-1.0082(T),,chr11,5906048,5906048,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val176Ile/c.526G>A|312|OR52E4|protein_coding|CODING|NM_001005165.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.6892,0.7536,0.7992,0.80,0.81,0.79,,0.017345(N),0.002(P),8.76(T),0.0000(T),0.024,-0.596124,5.15,4.02,-0.268000,0.428000,0.141000,0.933000,0.882000,0.018000,7.9467
missense_variant,OR52E4,MISSENSE,NM_001005165.1:p.Arg184Met/c.551G>T,aGg/aTg,MODERATE,,0.780152,0.8254,rs4757986,1(T),0.0(B),-3.005(N),-0.9843(T),,chr11,5906073,5906073,G,T,het,missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg184Met/c.551G>T|312|OR52E4|protein_coding|CODING|NM_001005165.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.6933,0.7536,0.7992,0.80,0.81,0.79,,0.000349(N),0.001(P),8.71(T),0.0000(T),0.064,-1.279207,5.15,2.83,-0.269000,0.099000,-0.287000,0.867000,0.952000,0.000000,5.9438
synonymous_variant,OR52E4,SILENT,NM_001005165.1:p.Tyr207Tyr/c.621T>C,taT/taC,LOW,COSM3998496(2),0.357827,0.3641,rs11823809,,,,,,chr11,5906143,5906143,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr207Tyr/c.621T>C|312|OR52E4|protein_coding|CODING|NM_001005165.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.316,0.402,0.4085,0.39,0.34,0.42,,,,,,,,,,,,,,,,
synonymous_variant,OR52E4,SILENT,NM_001005165.1:p.Arg224Arg/c.670A>C,Aga/Cga,LOW,COSM3998497(1),0.800319,0.8254,rs1453435,,,,,,chr11,5906192,5906192,A,C,het,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg224Arg/c.670A>C|312|OR52E4|protein_coding|CODING|NM_001005165.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.6933,0.7579,0.7992,0.82,0.87,0.79,,,,,,,,,,,,,,,,
missense_variant,OR52E4,MISSENSE,NM_001005165.1:p.Phe227Leu/c.681T>G,ttT/ttG,MODERATE,COSM3998498(3),0.357827,0.3641,rs11823828,0.18(T),0.107(B),0.825(L),-1.0499(T),,chr11,5906203,5906203,T,G,het,missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe227Leu/c.681T>G|312|OR52E4|protein_coding|CODING|NM_001005165.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.318,0.402,0.4085,0.39,0.34,0.42,,0.000087(D),1.000(P),9.26(T),0.0000(T),0.076,1.582573,5.15,0.395,0.523000,0.202000,-0.301000,0.768000,0.241000,0.000000,5.2374
missense_variant,OR52E4,MISSENSE,NM_001005165.1:p.Phe257Leu/c.769T>C,Ttt/Ctt,MODERATE,COSM3998499(2),0.357428,0.3641,rs11823842,0.54(T),0.008(B),-0.24(N),-1.2322(T),,chr11,5906291,5906291,T,C,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe257Leu/c.769T>C|312|OR52E4|protein_coding|CODING|NM_001005165.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.316,0.402,0.4085,0.39,0.34,0.42,,0.003198(N),0.000(P),8.95(T),0.0000(T),0.076,0.513407,5.1,3.94,0.523000,0.923000,-0.489000,0.990000,0.980000,0.000000,6.8055
missense_variant,OR56A3,MISSENSE,NM_001003443.2:p.Met51Thr/c.152T>C,aTg/aCg,MODERATE,,0.560903,0.6548,rs1840178,0.03(D),0.001(B),-1.09(N),-1.0608(T),,chr11,5968728,5968728,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met51Thr/c.152T>C|315|OR56A3|protein_coding|CODING|NM_001003443.2|1|1),"GM06990:H3K27me3,GM12878:H3K36me3",,,,0.5276,0.6412,0.5408,0.54,0.51,0.56,,0.330710(N),1.000(P),4.06(T),0.0000(T),0.047,0.041428,5.12,3.99,0.524000,0.980000,1.113000,0.014000,0.951000,0.001000,8.9442
missense_variant,OR56A5,MISSENSE,NM_001146033.1:p.Val104Met/c.310G>A,Gtg/Atg,MODERATE,,0.471845,0.3194,rs7114672,,,,,,chr11,5989415,5989415,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val104Met/c.310G>A|313|OR56A5|protein_coding|CODING|NM_001146033.1|1|1),,,,,0.4509,0.3444,0.3897,0.54,0.72,0.46,,,,,,,,,,,,,,,,
missense_variant,OR52L1,MISSENSE,NM_001005173.3:p.Trp297Arg/c.889T>C,Tgg/Cgg,MODERATE,,0.829073,0.8681,rs4237768,0.02(D),0.0(B),3.495(M),-0.9014(T),,chr11,6007272,6007272,A,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp297Arg/c.889T>C|329|OR52L1|protein_coding|CODING|NM_001005173.3|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8027,0.8703,0.8489,0.81,0.79,0.82,,0.001486(N),1.000(P),8.75(T),0.0000(T),0.119,-0.447696,3.54,2.62,-1.803000,0.318000,-2.451000,0.008000,0.947000,0.000000,5.0625
synonymous_variant,OR52L1,SILENT,NM_001005173.3:p.Ala255Ala/c.765G>A,gcG/gcA,LOW,COSM3998502(1),0.0824681,0.1171,rs61732631,,,,,,chr11,6007396,6007396,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala255Ala/c.765G>A|329|OR52L1|protein_coding|CODING|NM_001005173.3|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1626,0.0764,0.0706,0.07,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,OR52L1,MISSENSE,NM_001005173.3:p.Lys183Thr/c.548A>C,aAa/aCa,MODERATE,,0.71226,0.8671,rs4354673,0.02(D),0.138(B),0.75(N),-1.0060(T),,chr11,6007613,6007613,T,G,het,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys183Thr/c.548A>C|329|OR52L1|protein_coding|CODING|NM_001005173.3|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7607,0.8228,0.8171,0.70,0.52,0.79,,0.285183(N),1.000(P),8.7(T),0.0000(T),0.114,0.096072,3.73,-0.167,0.260000,0.004000,-0.099000,0.206000,0.001000,0.000000,7.7071
missense_variant,OR52L1,MISSENSE,NM_001005173.3:p.Cys161Arg/c.481T>C,Tgc/Cgc,MODERATE,COSM429357(1),0.750599,0.8631,rs4436524,0.53(T),0.0(B),-0.945(N),-1.0459(T),,chr11,6007680,6007680,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys161Arg/c.481T>C|329|OR52L1|protein_coding|CODING|NM_001005173.3|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7607,0.8357,0.8171,0.74,0.63,0.79,,0.172195(N),1.000(P),1.28(T),0.0000(T),0.046,-2.730502,3.85,0.241,-3.149000,-0.371000,-4.145000,0.002000,0.012000,0.000000,2.2228
missense_variant,OR52L1,MISSENSE,NM_001005173.3:p.Cys140Arg/c.418T>C,Tgc/Cgc,MODERATE,,0.800919,0.8681,rs4436525,1(T),0.0(B),,-0.9932(T),,chr11,6007743,6007743,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys140Arg/c.418T>C|329|OR52L1|protein_coding|CODING|NM_001005173.3|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7883,0.853,0.7863,0.76,0.74,0.76,,0.000875(N),0.355(P),3.55(T),0.0000(T),0.034,-1.724626,3.5,2.46,-0.642000,0.588000,1.845000,0.516000,0.996000,0.998000,6.3452
missense_variant,OR52L1,MISSENSE,NM_001005173.3:p.Ser130Leu/c.389C>T,tCa/tTa,MODERATE,COSM3998505(1),0.122804,0.1171,rs61750896,0(D),0.977(D),2.36(M),-0.6660(T),,chr11,6007772,6007772,G,A,het,missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser130Leu/c.389C>T|329|OR52L1|protein_coding|CODING|NM_001005173.3|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1626,0.085,0.0746,0.11,0.14,0.09,,0.004855(N),0.177(P),7.54(T),0.0000(T),0.294,3.337405,3.5,3.5,0.313000,1.662000,0.547000,0.906000,0.996000,0.043000,13.9062
synonymous_variant,OR56A4,SILENT,NM_001005179.2:p.Leu266Leu/c.798T>C,ctT/ctC,LOW,,0.16234,0.0794,rs11040248,,,,,,chr11,6023581,6023581,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu266Leu/c.798T>C|365|OR56A4|protein_coding|CODING|NM_001005179.2|1|1),HepG2:H3K27me3,,,,0.2556,0.1945,0.2694,0.23,0.11,0.30,,,,,,,,,,,,,,,,
missense_variant,OR56A4,MISSENSE,NM_001005179.2:p.Ile247Val/c.739A>G,Atc/Gtc,MODERATE,,0.164537,0.0794,rs11040249,0.12(T),0.019(B),1.62(L),-1.0229(T),,chr11,6023640,6023640,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile247Val/c.739A>G|365|OR56A4|protein_coding|CODING|NM_001005179.2|1|1),HepG2:H3K27me3,,,,0.2679,0.1945,0.2684,0.23,0.11,0.30,,0.002434(U),1.000(P),8.72(T),0.0000(T),0.064,0.806233,3.72,3.72,0.533000,1.669000,0.189000,0.988000,0.040000,0.000000,11.6678
synonymous_variant,OR56A4,SILENT,NM_001005179.2:p.Tyr187Tyr/c.561C>T,taC/taT,LOW,COSM3998509(1),0.162141,0.0794,rs10839221,,,,,,chr11,6023818,6023818,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr187Tyr/c.561C>T|365|OR56A4|protein_coding|CODING|NM_001005179.2|1|1),HepG2:H3K27me3,,,,0.2556,0.1945,0.2684,0.23,0.11,0.30,,,,,,,,,,,,,,,,
synonymous_variant,OR56A1,SILENT,NM_001001917.2:p.Ala293Ala/c.879A>G,gcA/gcG,LOW,,0.269968,0.0516,rs11040335,,,,,,chr11,6048056,6048056,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala293Ala/c.879A>G|318|OR56A1|protein_coding|CODING|NM_001001917.2|1|1),HUVEC:H3K27me3,,,,0.3119,0.3689,0.3966,0.34,0.27,0.37,,,,,,,,,,,,,,,,
synonymous_variant,OR56B4,SILENT,NM_001005181.1:p.Asn48Asn/c.144T>C,aaT/aaC,LOW,COSM1355220(2),0.170927,0.0506,rs4758387,,,,,,chr11,6129152,6129152,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn48Asn/c.144T>C|319|OR56B4|protein_coding|CODING|NM_001005181.1|1|1),HUVEC:H3K27me3,,,,0.1196,0.098,0.0517,0.16,0.36,0.06,,,,,,,,,,,,,,,,
missense_variant,OR56B4,MISSENSE,NM_001005181.1:p.Pro277Ser/c.829C>T,Cct/Tct,MODERATE,,0.503994,0.8839,rs1462983,0.01(D),0.987(D),1.155(L),-1.0932(T),,chr11,6129837,6129837,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro277Ser/c.829C>T|319|OR56B4|protein_coding|CODING|NM_001005181.1|1|1),HUVEC:H3K27me3,,,,0.6442,0.6023,0.4463,0.36,0.17,0.45,,0.002457(U),1.000(P),8.82(T),0.0000(T),0.085,1.025691,4.01,4.01,0.549000,2.220000,1.001000,0.133000,0.201000,0.000000,13.6372
synonymous_variant,OR52B2,SILENT,NM_001004052.1:p.Lys313Lys/c.939G>A,aaG/aaA,LOW,,,,,,,,,,chr11,6190618,6190618,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys313Lys/c.939G>A|323|OR52B2|protein_coding|CODING|NM_001004052.1|1|1),HUVEC:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR52W1,MISSENSE,NM_001005178.1:p.His239Arg/c.716A>G,cAt/cGt,MODERATE,,0.678315,0.9593,rs10839531,1(T),0.0(B),-2.84(N),-0.9830(T),,chr11,6221169,6221169,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His239Arg/c.716A>G|320|OR52W1|protein_coding|CODING|NM_001005178.1|1|1),GM06990:H3K36me3,,,,0.7996,0.7522,0.7932,0.62,0.33,0.77,,0.036297(N),1.000(P),9.43(T),0.0000(T),0.028,-2.950738,4.59,2.72,-1.977000,0.280000,2.889000,0.047000,0.391000,0.245000,8.3265
missense_variant,OR52W1,MISSENSE,NM_001005178.1:p.Leu254Gln/c.761T>A,cTg/cAg,MODERATE,COSM3752570(1),0.569888,0.7976,rs11040799,0(D),0.972(D),3.315(M),-0.9654(T),,chr11,6221214,6221214,T,A,het,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu254Gln/c.761T>A|320|OR52W1|protein_coding|CODING|NM_001005178.1|1|1),GM06990:H3K36me3,,,,0.6145,0.598,0.7475,0.59,0.30,0.74,,0.008963(N),0.112(P),1.02(T),0.0000(T),0.293,3.357877,5.11,5.11,0.460000,2.036000,3.012000,0.946000,1.000000,0.129000,14.3679
missense_variant,C11orf42,MISSENSE,NM_173525.2:p.Pro242Ser/c.724C>T,Cct/Tct,MODERATE,COSM3752571(1),0.617212,0.8135,rs10769671,0.3(T),0.006(B),0.55(N),-1.0204(T),,chr11,6231731,6231731,C,T,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro242Ser/c.724C>T|333|C11orf42|protein_coding|CODING|NM_173525.2|2|1),downstream_gene_variant(MODIFIER||833||972|FAM160A2|protein_coding|CODING|NM_001098794.1||1),downstream_gene_variant(MODIFIER||833||986|FAM160A2|protein_coding|CODING|NM_032127.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.719,0.7535,0.64,0.44,0.74,,0.280542(N),1.000(P),0.96(T),0.0000(T),0.018,-0.067571,5.13,3.24,0.585000,0.734000,0.284000,0.910000,0.935000,0.039000,8.1339
missense_variant,FAM160A2,MISSENSE,NM_032127.3:p.Arg633Leu/c.1898G>T,cGg/cTg,MODERATE,COSM3752577(1),0.130591,0.2431,rs3750943,0.74(T),"0.0,0.0,0.001(B,B,B)",-0.345(N),-1.0151(T),,chr11,6238960,6238960,C,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg619Leu/c.1856G>T|972|FAM160A2|protein_coding|CODING|NM_001098794.1|9|1),missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg633Leu/c.1898G>T|986|FAM160A2|protein_coding|CODING|NM_032127.3|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0778,0.1461,0.13,0.07,0.16,,0.293783(N),1.000(P),"0.86,0.86,0.86(T,T,T)",0.0000(T),0.122,-0.480378,5.16,3.97,-0.363000,0.994000,1.447000,0.135000,0.881000,0.534000,5.0671
missense_variant,FAM160A2,MISSENSE,NM_032127.3:p.Thr505Met/c.1514C>T,aCg/aTg,MODERATE,COSM3721706(1),0.528954,0.5,rs3750944,0.24(T),"0.006,0.001,0.013(B,B,B)",0.69(N),-0.9830(T),,chr11,6239344,6239344,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr491Met/c.1472C>T|972|FAM160A2|protein_coding|CODING|NM_001098794.1|9|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr505Met/c.1514C>T|986|FAM160A2|protein_coding|CODING|NM_032127.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.498,0.4294,0.5417,0.56,0.58,0.56,,0.030104(N),1.000(P),"3.1,3.0,2.48(T,T,T)",0.0000(T),0.055,0.782895,5.5,5.5,-0.361000,0.929000,1.772000,0.945000,1.000000,0.970000,6.9589
synonymous_variant,FAM160A2,SILENT,NM_032127.3:p.Tyr353Tyr/c.1059T>C,taT/taC,LOW,,0.728035,0.9593,rs3750945,,,,,,chr11,6243804,6243804,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr353Tyr/c.1059T>C|972|FAM160A2|protein_coding|CODING|NM_001098794.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr353Tyr/c.1059T>C|986|FAM160A2|protein_coding|CODING|NM_032127.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8476,0.8055,0.8161,0.68,0.42,0.81,,,,,,,,,,,,,,,,
synonymous_variant,CNGA4,SILENT,NM_001037329.3:p.Gln324Gln/c.972G>A,caG/caA,LOW,COSM3752588(2),0.212061,0.0407,rs7129498,,,,,,chr11,6262715,6262715,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln324Gln/c.972G>A|575|CNGA4|protein_coding|CODING|NM_001037329.3|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1483,0.1599,0.163,0.25,0.39,0.18,,,,,,,,,,,,,,,,
synonymous_variant,PRKCDBP,SILENT,NM_145040.2:p.Ala218Ala/c.654T>A,gcT/gcA,LOW,COSM1162642(4),0.654752,0.7341,rs12570,,,,,,chr11,6340525,6340525,A,T,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala218Ala/c.654T>A|261|PRKCDBP|protein_coding|CODING|NM_145040.2|2|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,HSMM:H3K36me3,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6963,0.5937,0.7097,0.64,0.56,0.69,,,,,,,,,,,,,,,,
missense_variant,PRKCDBP,MISSENSE,NM_145040.2:p.Leu158Pro/c.473T>C,cTg/cCg,MODERATE,COSM429498(4),0.527955,0.623,rs1051992,0.22(T),0.001(B),-0.805(N),-0.9329(T),,chr11,6340706,6340706,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu158Pro/c.473T>C|261|PRKCDBP|protein_coding|CODING|NM_145040.2|2|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:DNase1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,IMR90:H3K14ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,HeLa-S3:TAF1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,NHEK:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.6053,0.4726,0.5805,0.49,0.40,0.54,,0.414621(N),1.000(P),"0.21,0.21(T,T)",0.0000(T),0.044,0.421878,5.08,-3.56,-1.559000,-0.455000,-1.174000,0.432000,0.004000,0.000000,3.9686
missense_variant,PRKCDBP,MISSENSE,NM_145040.2:p.Arg8Pro/c.23G>C,cGg/cCg,MODERATE,,0.946486,1,rs2682123,0.35(T),0.0(B),-0.69(N),-1.0171(T),,chr11,6341684,6341684,C,G,hom,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg8Pro/c.23G>C|261|PRKCDBP|protein_coding|CODING|NM_145040.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,HeLa-S3:DNase1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,HeLa-S3:Max,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:Cmyc,HUVEC:H3K4me2,K562:H3K27me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,IMR90:H4K91ac,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,HeLa-S3:E2F6",,,,0.9734,0.9683,0.9682,0.94,0.89,0.97,,0.875453(N),1.000(P),"0.81,1.77(T,T)",0.0000(T),0.051,-0.677969,5.03,2.01,-0.120000,0.020000,0.309000,0.898000,0.004000,0.000000,3.901
missense_variant,SMPD1,MISSENSE,NM_000543.4:p.Val36Ala/c.107T>C,gTg/gCg,MODERATE,,0.561302,0.8075,rs1050228,0.45(T),"0.0,0.0(B,B)",-1.59(N),-1.0555(T),,chr11,6411935,6411935,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val36Ala/c.107T>C|631|SMPD1|protein_coding|CODING|NM_000543.4|1|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val36Ala/c.107T>C|630|SMPD1|protein_coding|CODING|NM_001007593.2|1|1)","K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000079189.1,,0.684,0.6729,0.5905,0.45,0.24,0.56,,0.915970(N),1.000(P),"2.99,2.99,3.0,3.0(T,T,T,T)",0.0000(T),0.08,1.174552,4.16,0.672,-0.445000,0.243000,0.500000,0.010000,0.010000,0.001000,7.0836
synonymous_variant,TRIM3,SILENT,NM_001248006.1:p.Pro375Pro/c.1125G>A,ccG/ccA,LOW,COSM330242(1),0.1877,0.0188,rs10606,,,,,,chr11,6477831,6477831,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro375Pro/c.1125G>A|744|TRIM3|protein_coding|CODING|NM_001248006.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro256Pro/c.768G>A|625|TRIM3|protein_coding|CODING|NM_001248007.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro375Pro/c.1125G>A|744|TRIM3|protein_coding|CODING|NM_006458.3|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro375Pro/c.1125G>A|744|TRIM3|protein_coding|CODING|NM_033278.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2239,0.1772,0.1849,0.23,0.29,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TRIM3,SILENT,NM_001248006.1:p.Ile201Ile/c.603C>T,atC/atT,LOW,COSM4146086(1),0.1873,0.0188,rs16913748,,,,,,chr11,6478619,6478619,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile201Ile/c.603C>T|744|TRIM3|protein_coding|CODING|NM_001248006.1|5|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile82Ile/c.246C>T|625|TRIM3|protein_coding|CODING|NM_001248007.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile201Ile/c.603C>T|744|TRIM3|protein_coding|CODING|NM_006458.3|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile201Ile/c.603C>T|744|TRIM3|protein_coding|CODING|NM_033278.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2219,0.1772,0.1849,0.23,0.29,0.21,,,,,,,,,,,,,,,,
synonymous_variant,TRIM3,SILENT,NM_001248006.1:p.Leu57Leu/c.171A>G,ctA/ctG,LOW,,0.00838658,0,rs41275192,,,,,,chr11,6479487,6479487,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu57Leu/c.171A>G|744|TRIM3|protein_coding|CODING|NM_001248006.1|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu57Leu/c.171A>G|744|TRIM3|protein_coding|CODING|NM_006458.3|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu57Leu/c.171A>G|744|TRIM3|protein_coding|CODING|NM_033278.3|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||625|TRIM3|protein_coding|CODING|NM_001248007.1|2|1),5_prime_UTR_variant(MODIFIER||182|c.-182A>G|625|TRIM3|protein_coding|CODING|NM_001248007.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0086,0.0288,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,TIMM10B,SILENT,NM_012192.3:p.Arg12Arg/c.34C>A,Cga/Aga,LOW,,0.167133,0.0327,rs11555935,,,,,,chr11,6502780,6502780,C,A,het,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg12Arg/c.34C>A|103|TIMM10B|protein_coding|CODING|NM_012192.3|1|1),upstream_gene_variant(MODIFIER||71||374|ARFIP2|protein_coding|CODING|NM_001242854.1||1),upstream_gene_variant(MODIFIER||71||303|ARFIP2|protein_coding|CODING|NM_001242855.1||1),upstream_gene_variant(MODIFIER||71||256|ARFIP2|protein_coding|CODING|NM_001242856.1||1),upstream_gene_variant(MODIFIER||71||341|ARFIP2|protein_coding|CODING|NM_012402.3||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,CD4:CBP,HeLa-S3:Cmyc,K562:Max,HepG2:Gabp,K562:H3K4me3,GM12878:ZBTB33,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:ETS1,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:SIX5,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:THAP1,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HUVEC:FAIRE,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:PU1,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,HeLa-S3:E2F6,K562:Jund",,,,0.227,0.1686,0.1839,0.20,0.21,0.19,,,,,,,,,,,,,,,,
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Arg66Gln/c.197G>A,cGa/cAa,MODERATE,,0.380591,0.1587,rs11604149,1(T),"0.001,0.002(B,B)",-0.805(N),-0.9474(T),,chr11,6519642,6519642,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg66Gln/c.197G>A|597|DNHD1|protein_coding|CODING|NM_173589.3|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg66Gln/c.197G>A|4753|DNHD1|protein_coding|CODING|NM_144666.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4346,0.4942,0.5378,0.46,0.35,0.52,,0.306202(N),1.000(P),"1.84,2.85,1.84(T,T,T)",0.0000(T),0.048,-0.120216,5.47,0.161,0.552000,-0.215000,-0.754000,0.989000,0.009000,0.000000,4.9095
synonymous_variant,DNHD1,SILENT,NM_144666.2:p.Leu190Leu/c.570G>T,ctG/ctT,LOW,,0.377396,0.1587,rs11040899,,,,,,chr11,6520015,6520015,G,T,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu190Leu/c.570G>T|597|DNHD1|protein_coding|CODING|NM_173589.3|2|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu190Leu/c.570G>T|4753|DNHD1|protein_coding|CODING|NM_144666.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4284,0.4928,0.5378,0.46,0.35,0.52,,,,,,,,,,,,,,,,
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Val240Glu/c.719T>A,gTg/gAg,MODERATE,COSM3752623(1),0.488419,0.1627,rs2555158,0.68(T),"0.0,0.0(B,B)",-1.79(N),-0.9623(T),,chr11,6520164,6520164,T,A,het,"missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val240Glu/c.719T>A|597|DNHD1|protein_coding|CODING|NM_173589.3|2|1),missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val240Glu/c.719T>A|4753|DNHD1|protein_coding|CODING|NM_144666.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4417,0.5231,0.5606,0.58,0.65,0.55,,0.757434(N),1.000(P),"1.9,2.91,1.9(T,T,T)",0.0000(T),0.114,-0.637875,5.58,-1.25,-1.299000,-0.418000,0.377000,0.006000,0.000000,0.001000,0.7696
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Gln279Pro/c.836A>C,cAg/cCg,MODERATE,,0.0996406,0.0169,rs11605196,0.3(T),"0.367,0.004(B,B)",1.245(L),-1.0345(T),,chr11,6524072,6524072,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln279Pro/c.836A>C|4753|DNHD1|protein_coding|CODING|NM_144666.2|4|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln279Pro/c.836A>C|597|DNHD1|protein_coding|CODING|NM_173589.3|3|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1493,0.147,0.1789,0.15,0.06,0.19,,0.149607(N),1.000(P),"1.64,2.65,1.64(T,T,T)",0.0001(T),0.425,1.627054,5.64,4.52,0.460000,0.971000,0.115000,0.032000,0.019000,0.000000,8.2343
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Gln560Glu/c.1678C>G,Cag/Gag,MODERATE,COSM4146116(1),0.142572,0.0327,rs11603869,1(T),"0.002,0.083(B,B)",0.975(L),-1.0525(T),,chr11,6541225,6541225,C,G,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln560Glu/c.1678C>G|4753|DNHD1|protein_coding|CODING|NM_144666.2|9|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln560Glu/c.1678C>G|597|DNHD1|protein_coding|CODING|NM_173589.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2178,0.1628,0.1909,0.18,0.12,0.21,,0.614855(N),1.000(P),"1.79,2.79,1.79(T,T,T)",0.0000(T),0.104,1.420306,5.7,3.63,0.561000,1.401000,1.531000,0.556000,0.198000,0.348000,9.8502
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Asp622Ala/c.1865A>C,gAc/gCc,MODERATE,,0.730032,0.874,rs4633449,0.84(T),0.0(B),-0.55(N),-1.0137(T),,chr11,6549779,6549779,A,C,hom,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp622Ala/c.1865A>C|4753|DNHD1|protein_coding|CODING|NM_144666.2|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7832,0.6585,0.6302,0.68,0.69,0.67,,,1.000(P),"1.87,1.87(T,T)",0.0000(T),0.065,0.066121,4.47,-2.8,-0.217000,-1.046000,-1.220000,0.015000,0.000000,0.000000,3.7229
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Asn694Ser/c.2081A>G,aAt/aGt,MODERATE,COSM1355950(1),0.725439,0.87,rs7480644,0.73(T),0.005(B),0(N),-1.0065(T),,chr11,6549995,6549995,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn694Ser/c.2081A>G|4753|DNHD1|protein_coding|CODING|NM_144666.2|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7802,0.6571,0.6302,0.67,0.68,0.67,,,1.000(P),"1.75,1.75(T,T)",0.0000(T),0.022,-0.321286,5.6,-0.949,-1.017000,-0.478000,-0.181000,0.022000,0.006000,0.001000,1.8355
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Gln697Arg/c.2090A>G,cAg/cGg,MODERATE,COSM1355951(1),0.730032,0.874,rs2344828,0.36(T),0.037(B),0.895(L),-1.0537(T),,chr11,6550004,6550004,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln697Arg/c.2090A>G|4753|DNHD1|protein_coding|CODING|NM_144666.2|11|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7832,0.6585,0.6302,0.68,0.69,0.67,,,1.000(P),"1.69,1.69(T,T)",0.0000(T),0.094,0.295334,5.6,4.48,-0.280000,0.951000,1.937000,0.001000,0.007000,0.741000,8.4785
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Gly769Arg/c.2305G>A,Ggg/Agg,MODERATE,,0.715256,0.874,rs2344829,0.32(T),0.0(B),-0.895(N),-1.0405(T),,chr11,6550309,6550309,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly769Arg/c.2305G>A|4753|DNHD1|protein_coding|CODING|NM_144666.2|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7832,0.6527,0.6292,0.66,0.65,0.67,,,1.000(P),"1.79,1.79(T,T)",0.0000(T),0.092,0.310322,5.54,3.02,-0.269000,0.928000,1.170000,0.938000,0.992000,0.799000,6.0678
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Asp987Gly/c.2960A>G,gAc/gGc,MODERATE,,0.867013,0.9167,rs7103810,0.35(T),0.0(B),0(N),-1.0537(T),,chr11,6555365,6555365,A,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp987Gly/c.2960A>G|4753|DNHD1|protein_coding|CODING|NM_144666.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8804,0.9107,0.8877,0.84,0.77,0.87,,,1.000(P),"1.75,1.75(T,T)",0.0000(T),0.062,-0.275732,6.17,2.63,0.533000,0.588000,0.277000,0.131000,0.037000,0.002000,5.853
synonymous_variant,DNHD1,SILENT,NM_144666.2:p.Leu1931Leu/c.5793G>A,ctG/ctA,LOW,,0.000599042,0,rs200466112,,,,,,chr11,6567962,6567962,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1931Leu/c.5793G>A|4753|DNHD1|protein_coding|CODING|NM_144666.2|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0.002,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Val2374Met/c.7120G>A,Gtg/Atg,MODERATE,COSM4146144(2),0.126997,0.0228,rs11606889,0.39(T),0.832(P),0.345(N),-1.0851(T),,chr11,6569896,6569896,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val2374Met/c.7120G>A|4753|DNHD1|protein_coding|CODING|NM_144666.2|24|1),"NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2035,0.1729,0.1829,0.17,0.10,0.19,,,0.000(P),"1.57,1.57(T,T)",0.0001(T),0.254,2.988476,5.96,4.95,0.655000,2.813000,1.820000,0.951000,1.000000,1.000000,9.6269
missense_variant,DNHD1,MISSENSE,NM_144666.2:p.Asp3313Asn/c.9937G>A,Gat/Aat,MODERATE,,0.435703,0.7212,rs11040923,0.16(T),0.023(B),0(N),-0.9439(T),,chr11,6585007,6585007,G,A,hom,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp3313Asn/c.9937G>A|4753|DNHD1|protein_coding|CODING|NM_144666.2|31|1),"K562:H3K4me1,GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.4654,0.4742,0.38,0.14,0.49,,,1.000(P),"-0.81,-0.81(T,T)",0.0000(T),0.022,0.471037,4.87,1.89,0.313000,0.108000,1.110000,0.071000,0.001000,0.088000,4.8015
synonymous_variant,RRP8,SILENT,NM_015324.3:p.Asn194Asn/c.582C>T,aaC/aaT,LOW,,0.739018,0.9137,rs2288283,,,,,,chr11,6622714,6622714,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn194Asn/c.582C>T|456|RRP8|protein_coding|CODING|NM_015324.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8671,0.7925,0.8598,0.73,0.48,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ILK,SILENT,NM_001014794.2:p.His99His/c.297C>T,caC/caT,LOW,COSM3752661(1),0.314696,0.3512,rs1043388,,,,,,chr11,6629665,6629665,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His99His/c.297C>T|452|ILK|protein_coding|CODING|NM_001014794.2|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His99His/c.297C>T|452|ILK|protein_coding|CODING|NM_001014795.2|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His99His/c.297C>T|391|ILK|protein_coding|CODING|NM_001278441.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His99His/c.297C>T|452|ILK|protein_coding|CODING|NM_004517.3|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||318|ILK|protein_coding|CODING|NM_001278442.1|3|1),5_prime_UTR_variant(MODIFIER||310|c.-106C>T|318|ILK|protein_coding|CODING|NM_001278442.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,0.2423,0.2608,0.2535,0.29,0.38,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ILK,SILENT,NM_001014794.2:p.Pro273Pro/c.819G>A,ccG/ccA,LOW,COSM3752664(1),0.347444,0.3492,rs1043390,,,,,,chr11,6630833,6630833,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro273Pro/c.819G>A|452|ILK|protein_coding|CODING|NM_001014794.2|9|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro273Pro/c.819G>A|452|ILK|protein_coding|CODING|NM_001014795.2|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro212Pro/c.636G>A|391|ILK|protein_coding|CODING|NM_001278441.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro139Pro/c.417G>A|318|ILK|protein_coding|CODING|NM_001278442.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro273Pro/c.819G>A|452|ILK|protein_coding|CODING|NM_004517.3|9|1),downstream_gene_variant(MODIFIER||1215||218|TAF10|protein_coding|CODING|NM_006284.3||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2515,0.2651,0.2555,0.33,0.47,0.25,,,,,,,,,,,,,,,,
synonymous_variant,TPP1,SILENT,NM_000391.3:p.Gly514Gly/c.1542A>T,ggA/ggT,LOW,COSM3752668(1),0.23123,0.3512,rs1128396,,,,,,chr11,6636106,6636106,T,A,het,synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly514Gly/c.1542A>T|563|TPP1|protein_coding|CODING|NM_000391.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118652.2,,0.1984,0.2075,0.161,0.19,0.22,0.17,,,,,,,,,,,,,,,,
missense_variant,DCHS1,MISSENSE,NM_003737.3:p.Arg2827Pro/c.8480G>C,cGg/cCg,MODERATE,,0.0267572,0,rs35599968,1(T),0.032(B),-0.8(N),-1.0375(T),,chr11,6644427,6644427,C,G,het,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg2827Pro/c.8480G>C|3298|DCHS1|protein_coding|CODING|NM_003737.3|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0184,0.0418,0.0825,0.05,0.02,0.07,,0.002680(N),0.979(N),0.31(T),0.0031(T),0.156,0.560984,4.97,2.96,-0.140000,0.555000,0.557000,0.953000,1.000000,0.925000,2.9295
missense_variant,DCHS1,MISSENSE,NM_003737.3:p.Thr1949Met/c.5846C>T,aCg/aTg,MODERATE,COSM1356235(2),0.297524,0.4236,rs4758443,0.15(T),0.01(B),2.3(M),-0.9484(T),,chr11,6648424,6648424,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1949Met/c.5846C>T|3298|DCHS1|protein_coding|CODING|NM_003737.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2975,0.3372,0.3728,0.30,0.17,0.37,,0.000181(D),1.000(P),4.61(T),0.0000(T),0.068,-0.854540,5.18,2.32,-1.450000,0.359000,0.935000,0.063000,0.399000,0.423000,5.9633
synonymous_variant,DCHS1,SILENT,NM_003737.3:p.Leu1405Leu/c.4215T>C,ctT/ctC,LOW,COSM3749183(2),0.529752,0.4365,rs2659872,,,,,,chr11,6651810,6651810,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1405Leu/c.4215T>C|3298|DCHS1|protein_coding|CODING|NM_003737.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4468,0.4481,0.4016,0.40,0.57,0.32,,,,,,,,,,,,,,,,
synonymous_variant,DCHS1,SILENT,NM_003737.3:p.Pro1232Pro/c.3696G>A,ccG/ccA,LOW,COSM1356255(1),0.451478,0.4325,rs2659871,,,,,,chr11,6652618,6652618,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1232Pro/c.3696G>A|3298|DCHS1|protein_coding|CODING|NM_003737.3|8|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3773,0.415,0.3797,0.45,0.56,0.39,,,,,,,,,,,,,,,,
synonymous_variant,DCHS1,SILENT,NM_003737.3:p.His634His/c.1902C>T,caC/caT,LOW,,0.346446,0.4296,rs997263,,,,,,chr11,6655433,6655433,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His634His/c.1902C>T|3298|DCHS1|protein_coding|CODING|NM_003737.3|3|1),"HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3374,0.3631,0.3777,0.35,0.29,0.38,,,,,,,,,,,,,,,,
missense_variant,OR2AG2,MISSENSE,NM_001004490.1:p.Arg87Leu/c.260G>T,cGc/cTc,MODERATE,COSM147130(5),0.206869,0.1538,rs11828782,0.73(T),0.001(B),-0.59(N),-0.9028(T),,chr11,6789929,6789929,C,A,het,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg87Leu/c.260G>T|316|OR2AG2|protein_coding|CODING|NM_001004490.1|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1922,0.2104,0.3509,0.29,0.18,0.35,,0.426471(N),1.000(P),5.0(T),0.0000(T),0.044,-1.454107,4.47,-8.66,-0.136000,-2.027000,-1.751000,0.079000,0.000000,0.000000,1.2451
missense_variant,OR2AG2,MISSENSE,NM_001004490.1:p.Arg54Pro/c.161G>C,cGg/cCg,MODERATE,COSM3998551(1),0.288538,0.2143,rs10839616,0.01(D),0.738(P),2.395(M),-0.8980(T),,chr11,6790028,6790028,C,G,het,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg54Pro/c.161G>C|316|OR2AG2|protein_coding|CODING|NM_001004490.1|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.4223,0.1671,0.2157,0.26,0.34,0.22,,0.188819(N),1.000(P),7.37(T),0.0000(T),0.269,0.692473,4.28,0.401,-1.594000,0.087000,-0.918000,0.004000,0.006000,0.000000,8.3017
missense_variant,OR2AG2,MISSENSE,NM_001004490.1:p.Tyr28Cys/c.83A>G,tAt/tGt,MODERATE,,0.877196,0.9286,rs386607438,0.32(T),0.0(B),0.55(N),-1.0359(T),,chr11,6790106,6790106,T,C,hom,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr28Cys/c.83A>G|316|OR2AG2|protein_coding|CODING|NM_001004490.1|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.8834,0.8415,0.8141,0.86,0.90,0.83,,0.001242(N),1.000(P),4.01(T),0.0000(T),0.064,-0.648419,4.28,3.36,-0.119000,0.749000,0.488000,0.327000,0.833000,0.066000,5.4004
synonymous_variant,OR2AG1,SILENT,NM_001004489.2:p.Val76Val/c.228T>C,gtT/gtC,LOW,COSM3752688(3),0.193091,0.1825,rs11041022,,,,,,chr11,6806496,6806496,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val76Val/c.228T>C|316|OR2AG1|protein_coding|CODING|NM_001004489.2|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1759,0.2032,0.328,0.27,0.13,0.34,,,,,,,,,,,,,,,,
missense_variant,OR2AG1,MISSENSE,NM_001004489.2:p.Val187Leu/c.559G>T,Gtg/Ttg,MODERATE,COSM3752689(1),0.192891,0.1815,rs2659880,1(T),0.0(B),-2.12(N),-0.9356(T),,chr11,6806827,6806827,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val187Leu/c.559G>T|316|OR2AG1|protein_coding|CODING|NM_001004489.2|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1759,0.2032,0.328,0.27,0.13,0.34,,0.024742(N),1.000(P),9.87(T),0.0000(T),0.085,-2.493496,4.23,-3.24,-1.182000,-0.893000,-0.260000,0.014000,0.788000,0.000000,8.5763
missense_variant,OR2AG1,MISSENSE,NM_001004489.2:p.Arg299Gly/c.895C>G,Cgg/Ggg,MODERATE,,0.197484,0.1815,rs2659879,1(T),0.0(B),0.03(N),-0.9607(T),,chr11,6807163,6807163,C,G,het,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg299Gly/c.895C>G|316|OR2AG1|protein_coding|CODING|NM_001004489.2|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.181,0.2075,0.339,0.27,0.13,0.34,,0.003466(N),1.000(P),1.1(T),0.0000(T),0.045,-1.530312,4.39,3.47,-0.729000,0.626000,0.294000,0.738000,1.000000,0.000000,6.8024
synonymous_variant,OR6A2,SILENT,NM_003696.2:p.Ser54Ser/c.162T>C,tcT/tcC,LOW,COSM1179746(1),0.694289,0.8224,rs866347,,,,,,chr11,6816778,6816778,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser54Ser/c.162T>C|327|OR6A2|protein_coding|CODING|NM_003696.2|1|1),HUVEC:H3K27me3,,,,0.8149,0.5922,0.8032,0.69,0.52,0.77,,,,,,,,,,,,,,,,
missense_variant,OR6A2,MISSENSE,NM_003696.2:p.Ile50Val/c.148A>G,Att/Gtt,MODERATE,COSM3752690(1),0.0165735,0,rs61741824,1(T),0.002(B),0.25(N),-0.9612(T),,chr11,6816792,6816792,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile50Val/c.148A>G|327|OR6A2|protein_coding|CODING|NM_003696.2|1|1),HUVEC:H3K27me3,,,,0.047,0.0101,0.0288,0.03,0.01,0.03,,0.092272(N),1.000(N),3.27(T),0.0032(T),0.075,-1.337374,4.95,-6.02,-3.168000,-0.806000,-1.270000,0.000000,0.000000,0.000000,12.8703
missense_variant,OR10A2,MISSENSE,NM_001004460.1:p.His43Arg/c.128A>G,cAc/cGc,MODERATE,,0.324281,0.3135,rs3930075,0.02(D),0.002(B),2.265(M),-0.9711(T),,chr11,6891113,6891113,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His43Arg/c.128A>G|303|OR10A2|protein_coding|CODING|NM_001004460.1|1|1),HepG2:H3K27me3,,,,0.4254,0.3732,0.3569,0.32,0.20,0.37,,0.001530(N),0.936(P),2.38(T),0.0000(T),0.188,0.508631,4.3,4.3,0.491000,1.942000,5.036000,0.165000,1.000000,0.681000,6.6225
synonymous_variant,OR10A2,SILENT,NM_001004460.1:p.Leu181Leu/c.543C>G,ctC/ctG,LOW,,0.328075,0.3135,rs7117739,,,,,,chr11,6891528,6891528,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu181Leu/c.543C>G|303|OR10A2|protein_coding|CODING|NM_001004460.1|1|1),HepG2:H3K27me3,,,,0.4294,0.379,0.3678,0.33,0.20,0.39,,,,,,,,,,,,,,,,
missense_variant,OR10A2,MISSENSE,NM_001004460.1:p.His207Arg/c.620A>G,cAc/cGc,MODERATE,,0.324481,0.3135,rs10839631,1(T),0.002(B),-0.145(N),-0.9745(T),,chr11,6891605,6891605,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His207Arg/c.620A>G|303|OR10A2|protein_coding|CODING|NM_001004460.1|1|1),HepG2:H3K27me3,,,,0.4264,0.3732,0.3569,0.31,0.20,0.37,,0.023888(N),1.000(P),8.78(T),0.0000(T),0.015,-3.294832,4.18,-2.84,-3.683000,-1.081000,-2.861000,0.110000,0.004000,0.000000,4.3458
missense_variant,OR10A2,MISSENSE,NM_001004460.1:p.Ile240Thr/c.719T>C,aTa/aCa,MODERATE,COSM3998557(1),0.310903,0.4067,rs10839632,0(D),0.002(B),-0.215(N),-0.9458(T),,chr11,6891704,6891704,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile240Thr/c.719T>C|303|OR10A2|protein_coding|CODING|NM_001004460.1|1|1),HepG2:H3K27me3,,,,0.3569,0.2882,0.325,0.27,0.24,0.28,,0.014748(N),1.000(P),1.17(T),0.0000(T),0.049,-0.054205,4.18,1.6,-0.323000,0.754000,0.050000,0.121000,0.986000,0.000000,9.3933
missense_variant,OR10A2,MISSENSE,NM_001004460.1:p.Lys258Thr/c.773A>C,aAg/aCg,MODERATE,,0.324481,0.3135,rs7926083,0.01(D),0.993(D),0.805(L),-0.6063(T),,chr11,6891758,6891758,A,C,het,missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys258Thr/c.773A>C|303|OR10A2|protein_coding|CODING|NM_001004460.1|1|1),HepG2:H3K27me3,,,,0.4264,0.3732,0.3569,0.31,0.20,0.37,,0.000850(D),0.791(P),8.71(T),0.0000(T),0.232,1.657657,4.18,4.18,0.529000,1.908000,2.229000,0.039000,0.887000,0.004000,11.568
missense_variant,OR10A4,MISSENSE,NM_207186.2:p.Arg262Gln/c.785G>A,cGa/cAa,MODERATE,COSM3998558(2),0.309105,0.3988,rs10839635,0.53(T),0.627(P),0.565(N),-0.9779(T),,chr11,6898663,6898663,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg262Gln/c.785G>A|315|OR10A4|protein_coding|CODING|NM_207186.2|1|1),,,,,0.3569,0.2882,0.325,0.27,0.24,0.28,,0.002055(N),0.973(P),1.21(T),0.0000(T),0.238,1.152108,4.04,4.04,0.651000,2.554000,0.803000,0.131000,0.916000,0.001000,7.8776
synonymous_variant,OR10A4,SILENT,NM_207186.2:p.Arg294Arg/c.880A>C,Agg/Cgg,LOW,,0.147165,0.1419,rs7102808,,,,,,chr11,6898758,6898758,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg294Arg/c.880A>C|315|OR10A4|protein_coding|CODING|NM_207186.2|1|1),,,,,0.1789,0.2666,0.1889,0.17,0.06,0.23,,,,,,,,,,,,,,,,
missense_variant,OR2D2,MISSENSE,NM_003700.1:p.Met202Thr/c.605T>C,aTg/aCg,MODERATE,,0.377796,0.4306,rs2741804,0.3(T),0.009(B),0.55(N),-1.0971(T),,chr11,6913127,6913127,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met202Thr/c.605T>C|308|OR2D2|protein_coding|CODING|NM_003700.1|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.408,0.5706,0.502,0.43,0.18,0.56,,0.006122(N),0.904(P),8.78(T),0.0000(T),0.085,-0.398977,5.08,3.96,-0.294000,1.079000,0.682000,0.067000,0.859000,0.000000,5.6143
missense_variant,OR2D2,MISSENSE,NM_003700.1:p.Ile163Thr/c.488T>C,aTa/aCa,MODERATE,,0.944489,1,rs1965208,1(T),0.001(B),-0.15(N),-0.9027(T),,chr11,6913244,6913244,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile163Thr/c.488T>C|308|OR2D2|protein_coding|CODING|NM_003700.1|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,1,0.9841,0.998,0.95,0.85,1.00,,0.002839(N),0.999(P),9.08(T),0.0000(T),0.035,-0.908746,5.12,4.21,-0.142000,0.878000,-0.274000,0.813000,0.616000,0.000000,10.1942
missense_variant,OR2D2,MISSENSE,NM_003700.1:p.Ser148Pro/c.442T>C,Tca/Cca,MODERATE,,0.148762,0.1399,rs1965209,0(D),0.876(P),2.225(M),-1.1127(T),,chr11,6913290,6913290,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser148Pro/c.442T>C|308|OR2D2|protein_coding|CODING|NM_003700.1|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1881,0.2637,0.1918,0.17,0.06,0.22,,0.027422(N),0.810(P),1.11(T),0.0001(T),0.326,2.798883,5.12,5.12,0.524000,2.291000,3.944000,0.979000,0.997000,0.996000,13.2293
missense_variant,OR2D3,MISSENSE,NM_001004684.1:p.Leu82Ile/c.244C>A,Ctc/Atc,MODERATE,COSM3998559(1),0.403754,0.3383,rs10839658,0(D),0.974(D),3.915(H),-0.9720(T),,chr11,6942476,6942476,C,A,het,missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu82Ile/c.244C>A|330|OR2D3|protein_coding|CODING|NM_001004684.1|1|1),,,,,0.3354,0.4942,0.6471,0.52,0.31,0.62,,0.015359(N),0.514(P),6.38(T),0.0000(T),0.287,2.055315,5.07,1.15,0.655000,0.415000,-0.012000,0.068000,0.319000,0.001000,8.516
missense_variant,OR2D3,MISSENSE,NM_001004684.1:p.Arg155Trp/c.463C>T,Cgg/Tgg,MODERATE,COSM147132(1),0.170927,0.2143,rs12806437,0.2(T),0.052(B),1.765(L),-0.9318(T),,chr11,6942695,6942695,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg155Trp/c.463C>T|330|OR2D3|protein_coding|CODING|NM_001004684.1|1|1),,,,,0.316,0.17,0.1581,0.14,0.07,0.18,,0.047015(N),1.000(P),5.51(T),0.0000(T),0.044,-0.041195,5.17,-2.95,0.655000,-0.292000,-0.952000,0.061000,0.000000,0.000000,4.0012
synonymous_variant,ZNF215,SILENT,NM_013250.2:p.Gly260Gly/c.780A>T,ggA/ggT,LOW,,0.676118,0.7133,rs2239731,,,,,,chr11,6976988,6976988,A,T,hom,synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly260Gly/c.780A>T|517|ZNF215|protein_coding|CODING|NM_013250.2|7|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8252,0.7911,0.7227,0.66,0.49,0.74,,,,,,,,,,,,,,,,
missense_variant,ZNF214,MISSENSE,NM_013249.2:p.Cys252Arg/c.754T>C,Tgt/Cgt,MODERATE,,0.909545,1,rs2857919,0.01(D),0.001(B),4.39(H),-0.9624(T),,chr11,7022160,7022160,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys252Arg/c.754T>C|606|ZNF214|protein_coding|CODING|NM_013249.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9611,0.964,0.9712,0.89,0.75,0.97,,0.142394(N),0.987(P),"1.05,1.05(T,T)",0.0000(T),0.046,0.133122,3.75,1.37,-1.120000,-0.000000,2.140000,0.002000,0.034000,0.122000,0.8599
missense_variant,ZNF214,MISSENSE,NM_013249.2:p.Leu128His/c.383T>A,cTc/cAc,MODERATE,,0.575679,0.7073,rs1156525,0.6(T),0.0(B),0(N),-1.0326(T),,chr11,7022531,7022531,A,T,hom,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu128His/c.383T>A|606|ZNF214|protein_coding|CODING|NM_013249.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6513,0.6268,0.6223,0.55,0.40,0.63,,0.489396(N),1.000(P),"3.28,3.28(T,T)",0.0000(T),0.084,-3.896005,4.03,-3.27,-1.856000,-1.265000,-1.814000,0.020000,0.000000,0.000000,2.2653
missense_variant,ZNF214,MISSENSE,NM_013249.2:p.Tyr66Cys/c.197A>G,tAc/tGc,MODERATE,COSM3998564(1),0.592652,0.7073,rs1156526,0.37(T),0.0(B),0(N),-1.0522(T),,chr11,7022717,7022717,T,C,hom,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr66Cys/c.197A>G|606|ZNF214|protein_coding|CODING|NM_013249.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6524,0.6354,0.6223,0.55,0.41,0.62,,0.218548(N),1.000(P),"3.49,3.49(T,T)",0.0000(T),0.149,-2.540209,4.14,-0.00722,-0.119000,-0.081000,-0.816000,0.161000,0.082000,0.000000,0.8929
missense_variant,NLRP14,MISSENSE,NM_176822.3:p.Asn48Thr/c.143A>C,aAt/aCt,MODERATE,,0.966054,1,rs12801277,0.97(T),0.0(B),-1.585(N),-0.9892(T),,chr11,7059960,7059960,A,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aCt|p.Asn48Thr/c.143A>C|1093|NLRP14|protein_coding|CODING|NM_176822.3|2|1),,,,,1,0.9928,1,0.96,0.89,1.00,,0.913417(N),1.000(P),0.87(T),0.0000(T),0.01,-0.301808,4.22,2.36,-2.433000,0.073000,-0.133000,0.376000,0.118000,0.000000,7.2251
synonymous_variant,NLRP14,SILENT,NM_176822.3:p.Phe166Phe/c.498C>T,ttC/ttT,LOW,,0.959265,1,rs7123944,,,,,,chr11,7063755,7063755,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe166Phe/c.498C>T|1093|NLRP14|protein_coding|CODING|NM_176822.3|4|1),,,,,1,0.9885,0.998,0.96,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NLRP14,SILENT,NM_176822.3:p.Glu751Glu/c.2253G>A,gaG/gaA,LOW,,0.935104,1,rs1552726,,,,,,chr11,7071031,7071031,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu751Glu/c.2253G>A|1093|NLRP14|protein_coding|CODING|NM_176822.3|6|1),,,,,1,0.9827,0.999,0.93,0.79,1.00,,,,,,,,,,,,,,,,
missense_variant,NLRP14,MISSENSE,NM_176822.3:p.Glu808Lys/c.2422G>A,Gag/Aag,MODERATE,,0.565895,0.7063,rs10839708,0.3(T),0.721(P),1.58(L),-0.9657(T),,chr11,7079038,7079038,G,A,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu808Lys/c.2422G>A|1093|NLRP14|protein_coding|CODING|NM_176822.3|7|1),"HUVEC:DNase1,HUVEC:H3K4me2,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.6421,0.6124,0.6024,0.51,0.36,0.59,,0.000452(D),0.226(P),1.0(T),0.0000(T),0.174,4.278511,4.89,3.98,0.585000,1.205000,3.157000,0.959000,0.977000,1.000000,9.4719
synonymous_variant,RBMXL2,SILENT,NM_014469.4:p.Ala4Ala/c.12G>A,gcG/gcA,LOW,COSM3752708(4),0.317292,0.4385,rs4758158,,,,,,chr11,7110363,7110363,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala4Ala/c.12G>A|392|RBMXL2|protein_coding|CODING|NM_014469.4|1|1),HUVEC:H3K27me3,,,,0.3937,0.2954,0.3648,0.27,0.15,0.34,,,,,,,,,,,,,,,,
missense_variant,RBMXL2,MISSENSE,NM_014469.4:p.Thr134Ala/c.400A>G,Acg/Gcg,MODERATE,COSM4146257(1),0.965855,1,rs11041171,0.57(T),0.0(B),0.145(N),-0.9922(T),,chr11,7110751,7110751,A,G,hom,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr134Ala/c.400A>G|392|RBMXL2|protein_coding|CODING|NM_014469.4|1|1),,,,,1,0.9928,1,,,,,0.993048(N),1.000(P),-0.9(T),0.0000(T),0.02,-1.264680,2.1,-2.91,-2.179000,-1.383000,-1.159000,0.013000,0.000000,0.014000,1.3858
synonymous_variant,SYT9,SILENT,NM_175733.3:p.Asp117Asp/c.351T>C,gaT/gaC,LOW,,0.977835,1,rs4412741,,,,,,chr11,7324475,7324475,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp117Asp/c.351T>C|491|SYT9|protein_coding|CODING|NM_175733.3|2|1),HepG2:H3K27me3,,,,1,0.9986,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SYT9,SILENT,NM_175733.3:p.Thr414Thr/c.1242C>T,acC/acT,LOW,COSM147136(1),0.171526,0.2897,rs34058874,,,,,,chr11,7439264,7439264,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr414Thr/c.1242C>T|491|SYT9|protein_coding|CODING|NM_175733.3|5|1),,,,,0.1207,0.1254,0.1491,0.14,0.14,0.14,,,,,,,,,,,,,,,,
missense_variant,OLFML1,MISSENSE,NM_198474.3:p.Glu113Val/c.338A>T,gAa/gTa,MODERATE,,0.166334,0.1558,rs12805648,0.02(D),0.029(B),2.045(M),-0.9181(T),,chr11,7509566,7509566,A,T,het,missense_variant(MODERATE|MISSENSE|gAa/gTa|p.Glu113Val/c.338A>T|402|OLFML1|protein_coding|CODING|NM_198474.3|2|1),GM06990:H3K36me3,,,,0.1677,0.2219,0.1889,0.16,0.13,0.17,,0.001796(N),0.000(P),"-2.53,-2.53(D,D)",0.0017(T),0.478,2.606394,5.68,5.68,0.482000,2.167000,5.476000,0.705000,0.281000,1.000000,12.3098
synonymous_variant,PPFIBP2,SILENT,NM_003621.3:p.Asp466Asp/c.1398C>T,gaC/gaT,LOW,,0.666534,0.5813,rs4643071,,,,,,chr11,7662732,7662732,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp354Asp/c.1062C>T|764|PPFIBP2|protein_coding|CODING|NM_001256568.1|13|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp323Asp/c.969C>T|733|PPFIBP2|protein_coding|CODING|NM_001256569.1|12|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp466Asp/c.1398C>T|876|PPFIBP2|protein_coding|CODING|NM_003621.3|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6452,0.6182,0.6431,0.71,0.79,0.67,,,0.054(P),,,.,-1.059576,5.93,-1.04,-0.972000,-0.495000,-0.815000,0.138000,0.812000,0.093000,6.3408
missense_variant,PPFIBP2,MISSENSE,NM_003621.3:p.Arg658Gly/c.1972A>G,Aga/Gga,MODERATE,,0.999401,1,rs4758209,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-3.155(N),-0.9528(T),,chr11,7670440,7670440,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg546Gly/c.1636A>G|764|PPFIBP2|protein_coding|CODING|NM_001256568.1|17|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg515Gly/c.1543A>G|733|PPFIBP2|protein_coding|CODING|NM_001256569.1|16|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg658Gly/c.1972A>G|876|PPFIBP2|protein_coding|CODING|NM_003621.3|20|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000001(N),0.979(P),"1.3,1.3,1.3,1.3(T,T,T,T)",0.0000(T),0.445,0.974868,5.3,5.3,-0.213000,1.379000,7.981000,0.957000,1.000000,1.000000,12.304
synonymous_variant,PPFIBP2,SILENT,NM_003621.3:p.Glu792Glu/c.2376G>A,gaG/gaA,LOW,COSM4146340(1),0.660543,0.6012,rs5864,0.19(T),,,-0.9879(T),,chr11,7673015,7673015,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu680Glu/c.2040G>A|764|PPFIBP2|protein_coding|CODING|NM_001256568.1|20|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu649Glu/c.1947G>A|733|PPFIBP2|protein_coding|CODING|NM_001256569.1|19|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu792Glu/c.2376G>A|876|PPFIBP2|protein_coding|CODING|NM_003621.3|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6605,0.6138,0.6392,0.69,0.73,0.67,,0.000001(D),0.000(P),,0.0000(T),.,0.834661,5.77,2.16,-0.254000,-0.044000,2.058000,0.876000,0.998000,1.000000,8.9551
synonymous_variant,CYB5R2,SILENT,NM_016229.3:p.Leu254Leu/c.762A>G,ctA/ctG,LOW,COSM4146344(1),0.773562,0.7728,rs13854,,,,,,chr11,7686674,7686674,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu254Leu/c.762A>G|276|CYB5R2|protein_coding|CODING|NM_016229.3|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7526,0.67,0.7604,0.80,0.85,0.77,,,,,,,,,,,,,,,,
missense_variant,CYB5R2,MISSENSE,NM_016229.3:p.Asn209Asp/c.625A>G,Aac/Gac,MODERATE,,0.786342,0.8165,rs12801394,0.07(T),0.001(B),0.625(N),-0.9282(T),,chr11,7687715,7687715,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn209Asp/c.625A>G|276|CYB5R2|protein_coding|CODING|NM_016229.3|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7658,0.6787,0.7634,0.80,0.85,0.77,,0.967262(N),1.000(P),"-2.13,-2.13,-2.13,-2.13(D,D,D,D)",0.0000(T),0.022,0.789250,5.79,-0.576,-3.273000,-0.687000,1.336000,0.116000,0.006000,0.414000,8.1297
missense_variant,CYB5R2,MISSENSE,NM_016229.3:p.Pro19Ser/c.55C>T,Ccg/Tcg,MODERATE,COSM3752750(1),0.0257588,0.002,rs61729556,0.16(T),"0.007,0.007(B,B)",1.34(L),-0.6035(T),,chr11,7694002,7694002,G,A,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro19Ser/c.55C>T|276|CYB5R2|protein_coding|CODING|NM_016229.3|2|1),"H1ESC:H3K36me3,GM12878:H3K27ac,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,IMR90:H3K27me3,GM12878:H3K4me1,HepG2:H3K27me3,GM12878:H3K4me2",,,,0.0521,0.0187,0.0378,0.03,0.01,0.04,,0.000069(D),1.000(D),"-1.9,-1.9,-1.9,-1.9,-1.9,-1.9,-1.9,-1.9(D,D,D,D,D,D,D,D)",0.1610(T),0.241,1.967013,5.21,3.31,-0.244000,1.341000,0.797000,0.786000,0.991000,0.993000,10.6269
synonymous_variant,OVCH2,SILENT,NM_198185.4:p.Glu559Glu/c.1677A>G,gaA/gaG,LOW,,0.172724,0.1587,rs35699890,,,,,,chr11,7711207,7711207,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu559Glu/c.1677A>G|565|OVCH2|protein_coding|CODING|NM_198185.4|16|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.1033,0.1383,0.1392,,,,,,,,,,,,,,,,,,,
missense_variant,OVCH2,MISSENSE,NM_198185.4:p.Thr539Ile/c.1616C>T,aCa/aTa,MODERATE,,0.168331,0.1577,rs4633461,0.23(T),0.116(B),2.28(M),-1.0312(T),,chr11,7712523,7712523,G,A,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr539Ile/c.1616C>T|565|OVCH2|protein_coding|CODING|NM_198185.4|15|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0828,0.1369,0.1382,0.18,0.25,0.15,,0.210649(N),1.000(P),2.14(T),0.0000(T),0.182,1.654456,5.62,3.65,0.557000,0.654000,1.163000,0.692000,0.136000,0.021000,10.1232
missense_variant,OVCH2,MISSENSE,NM_198185.4:p.Gln526His/c.1578A>T,caA/caT,MODERATE,,0.171925,0.1627,rs4519083,0.63(T),,,-0.9388(T),,chr11,7712561,7712561,T,A,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln526His/c.1578A>T|565|OVCH2|protein_coding|CODING|NM_198185.4|15|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0971,0.1383,0.1382,0.18,0.25,0.15,,0.018040(N),1.000(P),1.68(T),0.0000(T),0.062,0.214109,5.62,-1.65,-0.385000,-0.655000,-0.316000,0.015000,0.412000,0.777000,6.3134
synonymous_variant,OVCH2,SILENT,NM_198185.4:p.Asp488Asp/c.1464C>T,gaC/gaT,LOW,COSM3752751(1),0.105032,0.0129,rs74054133,,,,,,chr11,7713176,7713176,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp488Asp/c.1464C>T|565|OVCH2|protein_coding|CODING|NM_198185.4|14|1),"HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0624,0.0922,0.0596,0.12,0.21,0.08,,,,,,,,,,,,,,,,
missense_variant,OVCH2,MISSENSE,NM_198185.4:p.Asn410Tyr/c.1228A>T,Aat/Tat,MODERATE,,0.95627,1,rs4528317,1(T),0.0(B),0.22(N),-0.9252(T),,chr11,7716855,7716855,T,A,hom,missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn410Tyr/c.1228A>T|565|OVCH2|protein_coding|CODING|NM_198185.4|12|1),,,,,1,0.9697,0.998,0.96,0.87,1.00,,0.021619(N),0.999(P),2.21(T),0.0000(T),0.153,-0.646521,5.51,4.38,-0.336000,0.382000,-0.041000,0.106000,1.000000,0.125000,4.932
missense_variant,OVCH2,MISSENSE,NM_198185.4:p.Pro292Ser/c.874C>T,Ccc/Tcc,MODERATE,,0.844449,0.999,rs10839849,0.7(T),0.018(B),0(N),-0.9581(T),,chr11,7721870,7721870,G,A,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro292Ser/c.874C>T|565|OVCH2|protein_coding|CODING|NM_198185.4|7|1),"GM06990:H3K27me3,HUVEC:H3K27me3",,,,0.907,0.9063,0.9513,0.85,0.65,0.95,,0.000353(D),0.998(P),-3.08(D),0.0000(T),0.182,0.182103,5.57,3.71,0.655000,1.372000,1.670000,0.540000,1.000000,1.000000,5.347
missense_variant,OVCH2,MISSENSE,NM_198185.4:p.Arg19Gln/c.56G>A,cGa/cAa,MODERATE,COSM429902(3),0.403155,0.4157,rs7927138,0.71(T),0.0(B),-0.805(N),-1.0011(T),,chr11,7727886,7727886,C,T,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg19Gln/c.56G>A|565|OVCH2|protein_coding|CODING|NM_198185.4|1|1),HUVEC:H3K27me3,,,,0.6104,0.5144,0.3728,0.33,0.24,0.37,,0.675164(N),1.000(P),-3.1(D),0.0000(T),0.127,-2.187034,5.03,0.0262,-1.225000,0.413000,0.179000,0.001000,0.179000,0.020000,1.9492
synonymous_variant,OR5P3,SILENT,NM_153445.1:p.Val104Val/c.312A>G,gtA/gtG,LOW,,0.44349,0.4762,rs1482791,,,,,,chr11,7847208,7847208,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val104Val/c.312A>G|311|OR5P3|protein_coding|CODING|NM_153445.1|1|1),,,,,0.6155,0.5937,0.6292,0.47,0.17,0.63,,,,,,,,,,,,,,,,
synonymous_variant,OR5P3,SILENT,NM_153445.1:p.Ser18Ser/c.54T>C,tcT/tcC,LOW,,0.80651,0.6091,rs1482792,,,,,,chr11,7847466,7847466,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser18Ser/c.54T>C|311|OR5P3|protein_coding|CODING|NM_153445.1|1|1),,,,,0.8681,0.938,0.9553,0.90,0.79,0.96,,,,,,,,,,,,,,,,
synonymous_variant,OR5P3,SILENT,NM_153445.1:p.Gly16Gly/c.48G>A,ggG/ggA,LOW,,0.44389,0.4762,rs1482793,,,,,,chr11,7847472,7847472,C,T,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly16Gly/c.48G>A|311|OR5P3|protein_coding|CODING|NM_153445.1|1|1),,,,,0.6155,0.5937,0.6292,0.47,0.17,0.62,,,,,,,,,,,,,,,,
missense_variant,OR10A6,MISSENSE,NM_001004461.1:p.Leu287Pro/c.860T>C,cTg/cCg,MODERATE,,0.78774,0.7619,rs4758258,1(T),0.0(B),-2.72(N),-0.9823(T),,chr11,7949350,7949350,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu287Pro/c.860T>C|314|OR10A6|protein_coding|CODING|NM_001004461.1|1|1),"HUVEC:H3K27me3,HMEC:DNase1,NHEK:DNase1",,,,0.8067,0.8545,0.7982,0.77,0.74,0.78,,0.000588(N),0.001(P),2.5(T),0.0000(T),0.099,-1.579196,4.43,4.43,-0.119000,1.229000,7.045000,0.007000,0.947000,1.000000,10.6765
synonymous_variant,OR10A6,SILENT,NM_001004461.1:p.Phe62Phe/c.186T>C,ttT/ttC,LOW,,0.333267,0.2698,rs12272735,,,,,,chr11,7950024,7950024,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe62Phe/c.186T>C|314|OR10A6|protein_coding|CODING|NM_001004461.1|1|1),HUVEC:H3K27me3,,,,0.3681,0.4568,0.3718,0.35,0.29,0.38,,,,,,,,,,,,,,,,
synonymous_variant,LMO1,SILENT,NM_002315.2:p.Ala52Ala/c.156C>G,gcC/gcG,LOW,,0.333866,0.2857,rs3750952,,,,,,chr11,8251921,8251921,G,C,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala51Ala/c.153C>G|155|LMO1|protein_coding|CODING|NM_001270428.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala52Ala/c.156C>G|156|LMO1|protein_coding|CODING|NM_002315.2|2|1),non_coding_exon_variant(MODIFIER|||n.672C>G||LMO1||CODING|NR_073006.1|2|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.5399,0.4481,0.501,0.36,0.11,0.49,,,,,,,,,,,,,,,,
missense_variant,STK33,MISSENSE,NM_001289061.1:p.Ala437Thr/c.1309G>A,Gcc/Acc,MODERATE,COSM3752785(2),0.249601,0.2877,rs3751095,0.61(T),0.001(B),0(N),-1.0913(T),,chr11,8435077,8435077,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala396Thr/c.1186G>A|473|STK33|protein_coding|CODING|NM_001289058.1|13|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala250Thr/c.748G>A|327|STK33|protein_coding|CODING|NM_001289059.1|10|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala437Thr/c.1309G>A|514|STK33|protein_coding|CODING|NM_001289061.1|12|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala437Thr/c.1309G>A|514|STK33|protein_coding|CODING|NM_030906.3|13|1)",,,,,0.3834,0.2565,0.2545,0.03,0.01,0.03,,0.000621(N),1.000(P),"-0.48,-0.48,-0.48,-0.54,-0.47(T,T,T,T,T)",0.0000(T),0.039,1.407242,4.67,-1.09,0.563000,-0.280000,-0.871000,0.005000,0.000000,0.000000,3.0517
missense_variant,STK33,MISSENSE,NM_001289061.1:p.Asp436Glu/c.1308T>G,gaT/gaG,MODERATE,COSM3752788(2),0.249601,0.2877,rs3751096,0.36(T),0.009(B),0.805(L),-1.0997(T),,chr11,8435078,8435078,A,C,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp395Glu/c.1185T>G|473|STK33|protein_coding|CODING|NM_001289058.1|13|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp249Glu/c.747T>G|327|STK33|protein_coding|CODING|NM_001289059.1|10|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp436Glu/c.1308T>G|514|STK33|protein_coding|CODING|NM_001289061.1|12|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp436Glu/c.1308T>G|514|STK33|protein_coding|CODING|NM_030906.3|13|1)",,,,,0.3834,0.2565,0.2545,0.03,0.02,0.04,,0.553072(N),1.000(P),"-0.42,-0.42,-0.42,-0.48,-0.41(T,T,T,T,T)",0.0000(T),0.066,0.900084,4.67,1.14,-0.376000,0.379000,0.097000,0.002000,0.000000,0.000000,6.1573
synonymous_variant,STK33,SILENT,NM_001289061.1:p.Ala133Ala/c.399G>T,gcG/gcT,LOW,COSM3752789(2),0.445088,0.4871,rs1446464,,,,,,chr11,8486310,8486310,C,A,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala92Ala/c.276G>T|473|STK33|protein_coding|CODING|NM_001289058.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala133Ala/c.399G>T|514|STK33|protein_coding|CODING|NM_001289061.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala133Ala/c.399G>T|514|STK33|protein_coding|CODING|NM_030906.3|5|1),5_prime_UTR_variant(MODIFIER||7287|c.-163G>T|327|STK33|protein_coding|CODING|NM_001289059.1|2|1)",HMEC:H3K27me3,,,,0.6166,0.3703,0.4245,0.38,0.33,0.41,,,,,,,,,,,,,,,,
missense_variant,TRIM66,MISSENSE,NM_014818.1:p.Asn661His/c.1981A>C,Aac/Cac,MODERATE,,0.27496,0.3621,rs7947230,0.2(T),0.087(B),0(N),-0.9940(T),,chr11,8646670,8646670,T,G,het,missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn661His/c.1981A>C|1216|TRIM66|protein_coding|CODING|NM_014818.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3405,0.2061,0.1928,0.20,0.24,0.18,,0.003820(N),0.999(P),"-0.1,-0.09(T,T)",0.0000(T),0.029,2.216543,5.84,4.71,0.533000,1.025000,0.430000,0.789000,0.999000,0.991000,6.8564
missense_variant,TRIM66,MISSENSE,NM_014818.1:p.Leu630Val/c.1888C>G,Ctg/Gtg,MODERATE,COSM3727849(1),0.309904,0.3621,rs7935453,0.67(T),0.001(B),-1.245(N),-0.9885(T),,chr11,8646763,8646763,G,C,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu630Val/c.1888C>G|1216|TRIM66|protein_coding|CODING|NM_014818.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3998,0.2608,0.2505,,,,,0.002849(N),1.000(P),"-0.04,-0.02(T,T)",0.0000(T),0.058,-1.692612,5.72,2.82,-0.120000,0.356000,0.427000,0.519000,0.384000,0.198000,3.4232
missense_variant,TRIM66,MISSENSE,NM_014818.1:p.His466Arg/c.1397A>G,cAt/cGt,MODERATE,COSM3752792(4),0.766174,0.7202,rs11042022,0.37(T),,0(N),-1.0912(T),,chr11,8662090,8662090,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His466Arg/c.1397A>G|1216|TRIM66|protein_coding|CODING|NM_014818.1|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7178,0.8256,0.8529,,,,,,1.000(P),"2.5,2.5(T,T)",0.0000(T),0.158,-0.468525,.,.,0.000000,0.000000,0.106000,0.119000,0.283000,0.002000,.
missense_variant,TRIM66,MISSENSE,NM_014818.1:p.His324Arg/c.971A>G,cAc/cGc,MODERATE,COSM1561936(2),0.52516,0.4028,rs11042023,0.28(T),0.994(D),2.125(M),-0.9789(T),,chr11,8662516,8662516,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His324Arg/c.971A>G|1216|TRIM66|protein_coding|CODING|NM_014818.1|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Obesity,,,0.5133,0.5836,0.6302,0.62,0.53,0.66,,0.000104(D),0.497(P),"2.23,2.23(T,T)",0.0000(T),0.216,3.779607,5.1,5.1,0.397000,1.922000,5.486000,0.930000,1.000000,1.000000,14.8856
synonymous_variant,RPL27A,SILENT,NM_000990.4:p.Tyr109Tyr/c.327C>T,taC/taT,LOW,,0.185304,0.2798,rs6735,,,,,,chr11,8707233,8707233,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr109Tyr/c.327C>T|148|RPL27A|protein_coding|CODING|NM_000990.4|5|1),downstream_gene_variant(MODIFIER||1330|||SNORA45A||NON_CODING|NR_002580.1||1),downstream_gene_variant(MODIFIER||117|||SNORA45B||NON_CODING|NR_002977.1||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,K562:H3K27ac,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.229,0.17,0.1779,0.15,0.10,0.17,,,,,,,,,,,,,,,,
missense_variant,ST5,MISSENSE,NM_005418.3:p.Asp399Glu/c.1197C>G,gaC/gaG,MODERATE,COSM3736051(3),0.265375,0.253,rs3812762,1(T),0.019(B),1.7(L),-0.9210(T),,chr11,8751640,8751640,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp399Glu/c.1197C>G|1137|ST5|protein_coding|CODING|NM_005418.3|6|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp399Glu/c.1197C>G|1137|ST5|protein_coding|CODING|NM_213618.1|3|1),intron_variant(MODIFIER|||c.81-3884C>G|717|ST5|protein_coding|CODING|NM_139157.2|2|1)","K562:CTCF,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3405,0.3429,0.341,0.26,0.15,0.31,,0.000132(D),0.000(P),"3.61,3.61,3.61(T,T,T)",0.0000(T),0.312,0.468066,6.17,5.25,0.655000,2.941000,1.481000,0.999000,1.000000,1.000000,15.9972
missense_variant,C11orf16,MISSENSE,NM_020643.2:p.Arg467His/c.1400G>A,cGt/cAt,MODERATE,,0.00199681,0,rs146809873,0.06(T),0.003(B),0(N),-1.0405(T),,chr11,8942867,8942867,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg467His/c.1400G>A|467|C11orf16|protein_coding|CODING|NM_020643.2|6|1),downstream_gene_variant(MODIFIER||1241||183|AKIP1|protein_coding|CODING|NM_001206646.1||1),downstream_gene_variant(MODIFIER||1241||183|AKIP1|protein_coding|CODING|NM_001206647.1||1),downstream_gene_variant(MODIFIER||1241||156|AKIP1|protein_coding|CODING|NM_001206648.1||1),downstream_gene_variant(MODIFIER||1241||210|AKIP1|protein_coding|CODING|NM_020642.3||1),downstream_gene_variant(MODIFIER||1241|||AKIP1||CODING|NR_045417.1||1),downstream_gene_variant(MODIFIER||1241|||AKIP1||CODING|NR_045418.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0043,0.006,0.00,0.00,0.00,,,1.000(N),1.3(T),0.0266(T),0.207,1.502859,3.93,0.647,-0.139000,0.125000,0.449000,0.016000,0.000000,0.004000,2.8298
missense_variant,C11orf16,MISSENSE,NM_020643.2:p.Ala423Val/c.1268C>T,gCa/gTa,MODERATE,,0.921725,1,rs2568023,1(T),0.0(B),0.345(N),-0.9330(T),,chr11,8942999,8942999,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala423Val/c.1268C>T|467|C11orf16|protein_coding|CODING|NM_020643.2|6|1),downstream_gene_variant(MODIFIER||1373||183|AKIP1|protein_coding|CODING|NM_001206646.1||1),downstream_gene_variant(MODIFIER||1373||183|AKIP1|protein_coding|CODING|NM_001206647.1||1),downstream_gene_variant(MODIFIER||1373||156|AKIP1|protein_coding|CODING|NM_001206648.1||1),downstream_gene_variant(MODIFIER||1373||210|AKIP1|protein_coding|CODING|NM_020642.3||1),downstream_gene_variant(MODIFIER||1373|||AKIP1||CODING|NR_045417.1||1),downstream_gene_variant(MODIFIER||1373|||AKIP1||CODING|NR_045418.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9741,0.998,0.92,0.76,1.00,,0.019252(N),1.000(P),1.39(T),0.0000(T),0.009,-0.922121,3.93,-4.19,-0.269000,-1.393000,-1.283000,0.001000,0.000000,0.000000,13.1902
missense_variant,C11orf16,MISSENSE,NM_020643.2:p.Leu398Pro/c.1193T>C,cTt/cCt,MODERATE,,0.889776,1,rs2653588,1(T),"0.0,0.0(B,B)",-1.78(N),-0.9864(T),,chr11,8947021,8947021,A,G,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu398Pro/c.1193T>C|467|C11orf16|protein_coding|CODING|NM_020643.2|5|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.964,0.998,0.88,0.64,1.00,,0.015711(N),1.000(P),"1.55,1.56(T,T)",0.0000(T),0.037,-2.709160,5.67,2.59,-0.119000,0.429000,1.550000,0.011000,0.001000,0.531000,3.4439
missense_variant,C11orf16,MISSENSE,NM_020643.2:p.Pro311Ala/c.931C>G,Ccc/Gcc,MODERATE,,0.530751,0.7093,rs3751066,1(T),"0.116,0.368(B,B)",1.78(L),-0.8714(T),,chr11,8947283,8947283,G,C,hom,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro311Ala/c.931C>G|467|C11orf16|protein_coding|CODING|NM_020643.2|5|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4867,0.6787,0.6044,0.52,0.35,0.61,,0.082396(N),1.000(P),"1.39,1.34(T,T)",0.0000(T),0.074,1.283644,5.67,0.0228,0.655000,0.350000,0.204000,0.120000,0.141000,0.006000,2.4899
missense_variant,C11orf16,MISSENSE,NM_020643.2:p.Val210Leu/c.628G>C,Gtc/Ctc,MODERATE,COSM3752802(4),0.248602,0.377,rs11042127,0.16(T),"0.039,0.067(B,B)",1.845(L),-0.9600(T),,chr11,8947586,8947586,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val210Leu/c.628G>C|467|C11orf16|protein_coding|CODING|NM_020643.2|5|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.2003,0.1918,0.19,0.22,0.18,,0.155467(N),1.000(P),"1.77,1.77(T,T)",0.0000(T),0.106,1.567084,6.07,5.14,0.655000,1.536000,3.759000,0.196000,0.025000,0.607000,15.681
synonymous_variant,C11orf16,SILENT,NM_020643.2:p.Pro122Pro/c.366T>A,ccT/ccA,LOW,COSM4146410(1),0.527556,0.7093,rs3751065,,,,,,chr11,8948680,8948680,A,T,hom,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro122Pro/c.366T>A|467|C11orf16|protein_coding|CODING|NM_020643.2|4|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4867,0.6772,0.6044,0.51,0.33,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ASCL3,SILENT,NM_020646.1:p.Gly66Gly/c.198A>C,ggA/ggC,LOW,,0.660743,0.9306,rs4910179,,,,,,chr11,8959511,8959511,T,G,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly66Gly/c.198A>C|181|ASCL3|protein_coding|CODING|NM_020646.1|2|1),,,,,0.7791,0.7176,0.6819,0.60,0.38,0.71,,,,,,,,,,,,,,,,
missense_variant,ASCL3,MISSENSE,NM_020646.1:p.Arg55Leu/c.164G>T,cGg/cTg,MODERATE,,0.545727,0.7113,rs4909951,0.89(T),0.0(B),-0.975(N),-0.9395(T),,chr11,8959545,8959545,C,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg55Leu/c.164G>T|181|ASCL3|protein_coding|CODING|NM_020646.1|2|1),,,,,0.5072,0.6916,0.6392,0.55,0.36,0.64,,0.470549(N),1.000(P),"-4.21,-4.21(D,D)",0.0000(T),0.055,-0.211794,5.72,4.57,-0.264000,0.424000,2.572000,0.896000,0.637000,0.686000,11.7315
synonymous_variant,TMEM9B,SILENT,NM_020644.2:p.Val71Val/c.213T>C,gtT/gtC,LOW,,0.334864,0.4494,rs2568068,,,,,,chr11,8977830,8977830,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val71Val/c.213T>C|198|TMEM9B|protein_coding|CODING|NM_020644.2|3|1),5_prime_UTR_variant(MODIFIER||10|c.-10T>C|124|TMEM9B|protein_coding|CODING|NM_001286094.1|2|1),5_prime_UTR_variant(MODIFIER||10|c.-10T>C|124|TMEM9B|protein_coding|CODING|NM_001286095.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.274,0.2363,0.2097,0.27,0.38,0.21,,,,,,,,,,,,,,,,
missense_variant,SCUBE2,MISSENSE,NM_020974.2:p.Thr763Ser/c.2288C>G,aCt/aGt,MODERATE,COSM3998625(1),0.0948482,0.121,rs3751057,0.03(D),"0.994,0.999,0.999(D,D,D)",2.705(M),-0.8189(T),,chr11,9051475,9051475,G,C,het,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr665Ser/c.1994C>G|807|SCUBE2|protein_coding|CODING|NM_001170690.1|15|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr763Ser/c.2288C>G|971|SCUBE2|protein_coding|CODING|NM_020974.2|18|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1063,0.0519,0.0676,0.09,0.11,0.08,,0.000000(D),0.000(P),"-0.02,-0.02,-0.02,-0.02(T,T,T,T)",0.0157(T),0.619,4.705731,5.19,5.19,0.491000,2.415000,7.879000,0.981000,0.964000,1.000000,18.7036
missense_variant,SCUBE2,MISSENSE,NM_020974.2:p.His684Gln/c.2052T>G,caT/caG,MODERATE,,0.997005,1,rs7395988,1(T),"0.0,0.0,0.0(B,B,B)",,-0.9327(T),,chr11,9052423,9052423,A,C,hom,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His586Gln/c.1758T>G|807|SCUBE2|protein_coding|CODING|NM_001170690.1|14|1),missense_variant(MODERATE|MISSENSE|caT/caG|p.His684Gln/c.2052T>G|971|SCUBE2|protein_coding|CODING|NM_020974.2|17|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.003167(N),1.000(P),"2.47,2.47,2.47,2.47(T,T,T,T)",0.0000(T),0.063,0.096252,5.39,4.47,-0.217000,1.300000,0.308000,0.993000,1.000000,0.987000,5.1004
missense_variant,SCUBE2,MISSENSE,NM_020974.2:p.Thr620Met/c.1859C>T,aCg/aTg,MODERATE,COSM147143(3),0.154353,0.256,rs3751055,0.24(T),"0.407,0.633,0.534(B,P,P)",1.415(L),-1.1342(T),,chr11,9069046,9069046,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr465Met/c.1394C>T|807|SCUBE2|protein_coding|CODING|NM_001170690.1|12|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr620Met/c.1859C>T|971|SCUBE2|protein_coding|CODING|NM_020974.2|16|1)",HepG2:H3K27me3,,,,0.2832,0.062,0.1272,0.12,0.07,0.14,,0.000419(D),0.000(P),"-1.3,-1.41,-1.84,-1.48(T,T,D,T)",0.0003(T),0.456,2.851660,5.07,2.03,0.655000,0.594000,4.686000,0.935000,0.556000,1.000000,7.8988
synonymous_variant,SCUBE2,SILENT,NM_020974.2:p.Asn95Asn/c.285T>C,aaT/aaC,LOW,,0.00279553,0,rs141220103,,,,,,chr11,9101028,9101028,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn95Asn/c.285T>C|807|SCUBE2|protein_coding|CODING|NM_001170690.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn95Asn/c.285T>C|971|SCUBE2|protein_coding|CODING|NM_020974.2|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0058,0.0089,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,SCUBE2,MISSENSE,NM_020974.2:p.Leu25Pro/c.74T>C,cTg/cCg,MODERATE,COSM1605344(1),0.327276,0.4534,rs60494098,0.25(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-1.0247(T),,chr11,9113002,9113002,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu25Pro/c.74T>C|807|SCUBE2|protein_coding|CODING|NM_001170690.1|1|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu25Pro/c.74T>C|971|SCUBE2|protein_coding|CODING|NM_020974.2|1|1),upstream_gene_variant(MODIFIER||1076|||MIR5691||NON_CODING|NR_049874.1||1)","HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.408,0.4035,0.159,,,,,,0.768(P),"-1.28,-1.38,-1.86,-1.45(T,T,D,T)",0.0000(T),0.211,1.001643,2.52,-4.38,-0.665000,-1.087000,0.347000,0.010000,0.054000,0.005000,3.6865
missense_variant,DENND5A,MISSENSE,NM_015213.3:p.Glu224Gln/c.670G>C,Gag/Cag,MODERATE,COSM3752807(1),0.3752,0.4573,rs952374,0.55(T),"0.024,0.014(B,B)",0.06(N),-0.9251(T),,chr11,9225486,9225486,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu224Gln/c.670G>C|1241|DENND5A|protein_coding|CODING|NM_001243254.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu224Gln/c.670G>C|1287|DENND5A|protein_coding|CODING|NM_015213.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5511,0.464,0.2773,0.26,0.22,0.28,,0.000030(N),0.000(P),"2.75,2.75(T,T)",0.0000(T),0.075,0.971813,5.42,4.49,0.650000,1.233000,2.220000,0.997000,1.000000,1.000000,15.7483
synonymous_variant,IPO7,SILENT,NM_006391.2:p.Thr13Thr/c.39T>C,acT/acC,LOW,,0.982228,1,rs4606477,,,,,,chr11,9406349,9406349,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr13Thr/c.39T>C|1038|IPO7|protein_coding|CODING|NM_006391.2|1|1),"GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:SIX5,GM12878:H3K79me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,1,0.9957,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,ZNF143,MISSENSE,NM_003442.5:p.Glu561Gln/c.1681G>C,Gaa/Caa,MODERATE,,0.901158,0.7788,rs10743108,0.52(T),"0.0,0.0,0.0(B,B,B)",-1.04(N),-0.9791(T),,chr11,9537904,9537904,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu560Gln/c.1678G>C|637|ZNF143|protein_coding|CODING|NM_001282656.1|14|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu530Gln/c.1588G>C|607|ZNF143|protein_coding|CODING|NM_001282657.1|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu561Gln/c.1681G>C|638|ZNF143|protein_coding|CODING|NM_003442.5|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8661,0.8617,0.9732,0.98,0.98,0.98,,0.000022(N),1.000(P),"3.08,3.1,3.08,3.1,3.15(T,T,T,T,T)",0.0000(T),0.253,0.581136,5.82,5.82,-0.120000,1.481000,3.791000,0.884000,1.000000,1.000000,15.5151
synonymous_variant,WEE1,SILENT,NM_003390.3:p.Gly84Gly/c.252C>G,ggC/ggG,LOW,COSM4146457(1),0.49401,0.3472,rs11042428,,,,,,chr11,9595732,9595732,C,G,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly84Gly/c.252C>G|646|WEE1|protein_coding|CODING|NM_003390.3|1|1),upstream_gene_variant(MODIFIER||502||432|WEE1|protein_coding|CODING|NM_001143976.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,HMEC:H3K27ac,K562:Znf263,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.5941,0.4035,0.6272,,,,,,,,,,,,,,,,,,,
missense_variant,SWAP70,MISSENSE,NM_015055.3:p.Gln505Glu/c.1513C>G,Cag/Gag,MODERATE,,0.520367,0.3899,rs415895,1(T),"0.016,0.0(B,B)",0.895(L),-0.9711(T),,chr11,9769562,9769562,C,G,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln447Glu/c.1339C>G|527|SWAP70|protein_coding|CODING|NM_001297714.1|9|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln505Glu/c.1513C>G|585|SWAP70|protein_coding|CODING|NM_015055.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5286,0.5576,0.661,0.62,0.53,0.67,,0.000428(D),0.022(P),"2.45,2.45(T,T)",0.0000(T),0.107,1.007821,5.72,5.72,0.650000,2.703000,5.743000,0.965000,0.806000,1.000000,19.8796
missense_variant,SBF2,MISSENSE,NM_030962.3:p.Leu1098Val/c.3292C>G,Ctg/Gtg,MODERATE,,0.00858626,0,rs117957652,0.27(T),0.411(B),1.63(L),-1.0133(T),,chr11,9861208,9861208,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu1098Val/c.3292C>G|1849|SBF2|protein_coding|CODING|NM_030962.3|26|1),intron_variant(MODIFIER|||n.135+385G>C||LOC101928008||NON_CODING|NR_120539.1|1|1)","NHEK:H3K27ac,NHEK:H3K4me1,CD4:H2BK20ac,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0174,0.0072,0.0209,0.02,0.00,0.03,,0.000203(U),0.946(D),2.92(T),0.0133(T),0.206,2.462068,5.26,2.29,0.638000,0.699000,0.359000,0.994000,0.979000,0.044000,8.4036
synonymous_variant,AMPD3,SILENT,NM_000480.2:p.Tyr572Tyr/c.1716T>C,taT/taC,LOW,COSM3752105(1),0.367412,0.6944,rs3741041,,,,,,chr11,10521764,10521764,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr572Tyr/c.1716T>C|776|AMPD3|protein_coding|CODING|NM_000480.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr563Tyr/c.1689T>C|767|AMPD3|protein_coding|CODING|NM_001025389.1|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr570Tyr/c.1710T>C|774|AMPD3|protein_coding|CODING|NM_001025390.1|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr563Tyr/c.1689T>C|767|AMPD3|protein_coding|CODING|NM_001172430.1|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr404Tyr/c.1212T>C|608|AMPD3|protein_coding|CODING|NM_001172431.1|10|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3824,0.3991,0.4145,0.31,0.12,0.41,,,,,,,,,,,,,,,,
synonymous_variant,RNF141,SILENT,NM_016422.3:p.Leu39Leu/c.117T>C,ctT/ctC,LOW,COSM3752106(1),0.356629,0.6954,rs1065052,,,,,,chr11,10555589,10555589,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu39Leu/c.117T>C|230|RNF141|protein_coding|CODING|NM_016422.3|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3599,0.4006,0.4135,0.31,0.09,0.42,,,,,,,,,,,,,,,,
synonymous_variant,MRVI1,SILENT,NM_130385.3:p.Leu393Leu/c.1179C>T,ctC/ctT,LOW,COSM1561151(3),0.445288,0.6915,rs2241489,,,,,,chr11,10647702,10647702,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu385Leu/c.1155C>T|904|MRVI1|protein_coding|CODING|NM_001098579.2|8|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu302Leu/c.906C>T|821|MRVI1|protein_coding|CODING|NM_001100163.2|9|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu78Leu/c.234C>T|597|MRVI1|protein_coding|CODING|NM_001100167.2|9|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu78Leu/c.234C>T|597|MRVI1|protein_coding|CODING|NM_001206881.1|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu393Leu/c.1179C>T|912|MRVI1|protein_coding|CODING|NM_130385.3|9|1),intron_variant(MODIFIER|||c.750+1561C>T|706|MRVI1|protein_coding|CODING|NM_001206880.1|8|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4305,0.4452,0.4622,0.43,0.28,0.49,,,,,,,,,,,,,,,,
synonymous_variant,MRVI1,SILENT,NM_130385.3:p.Arg207Arg/c.621G>A,cgG/cgA,LOW,COSM3752110(1),0.580871,0.7153,rs2278125,,,,,,chr11,10650329,10650329,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg198Arg/c.594G>A|904|MRVI1|protein_coding|CODING|NM_001098579.2|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg116Arg/c.348G>A|821|MRVI1|protein_coding|CODING|NM_001100163.2|6|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg207Arg/c.621G>A|706|MRVI1|protein_coding|CODING|NM_001206880.1|6|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg207Arg/c.621G>A|912|MRVI1|protein_coding|CODING|NM_130385.3|6|1),5_prime_UTR_variant(MODIFIER||2394|c.-328G>A|597|MRVI1|protein_coding|CODING|NM_001100167.2|6|1),5_prime_UTR_variant(MODIFIER||2394|c.-272G>A|597|MRVI1|protein_coding|CODING|NM_001206881.1|5|1)","GM12878:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.5143,0.6412,0.5427,0.55,0.53,0.56,,,,,,,,,,,,,,,,
missense_variant,MRVI1,MISSENSE,NM_130385.3:p.Ala79Thr/c.235G>A,Gcc/Acc,MODERATE,,0.96905,1,rs2162044,0.97(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.805(N),-0.9969(T),,chr11,10655609,10655609,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala70Thr/c.208G>A|904|MRVI1|protein_coding|CODING|NM_001098579.2|2|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala79Thr/c.235G>A|706|MRVI1|protein_coding|CODING|NM_001206880.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala79Thr/c.235G>A|912|MRVI1|protein_coding|CODING|NM_130385.3|3|1),5_prime_UTR_variant(MODIFIER||7674|c.-658G>A|597|MRVI1|protein_coding|CODING|NM_001206881.1|2|1),5_prime_UTR_variant(MODIFIER||39|c.-39G>A|821|MRVI1|protein_coding|CODING|NM_001100163.2|3|1),intron_variant(MODIFIER|||c.-619-2001G>A|597|MRVI1|protein_coding|CODING|NM_001100167.2|3|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9939,0.9928,0.994,0.96,0.91,0.99,,0.710509(N),1.000(P),"3.15,3.15,2.97,2.56,3.15,0.97(T,T,T,T,T,T)",0.0000(T),0.059,-0.206386,4.86,-6.49,-0.360000,-1.666000,-1.014000,0.119000,0.000000,0.000000,4.4484
missense_variant,MRVI1,MISSENSE,NM_001098579.2:p.Ile11Val/c.31A>G,Atc/Gtc,MODERATE,COSM1350636(3),0.873802,0.9692,rs4909945,,"0.0,0.001(B,B)",-0.205(N),-1.0176(T),,chr11,10673739,10673739,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile11Val/c.31A>G|904|MRVI1|protein_coding|CODING|NM_001098579.2|1|1),intron_variant(MODIFIER|||c.-48-18121A>G|821|MRVI1|protein_coding|CODING|NM_001100163.2|2|1),intron_variant(MODIFIER|||c.-667-18121A>G|597|MRVI1|protein_coding|CODING|NM_001206881.1|1|1),intron_variant(MODIFIER|||c.-777-10A>G|597|MRVI1|protein_coding|CODING|NM_001100167.2|2|1),intron_variant(MODIFIER|||c.68-10A>G|706|MRVI1|protein_coding|CODING|NM_001206880.1|1|1),intron_variant(MODIFIER|||c.68-10A>G|912|MRVI1|protein_coding|CODING|NM_130385.3|1|1)","IMR90:H3K36me3,HepG2:H3K27me3",Migraine,,,0.8569,0.8156,0.6968,0.77,0.94,0.69,,0.813137(N),0.000(P),"2.87,2.86,2.87(T,T,T)",0.0000(T),0.048,-0.160191,5.26,-2.56,-0.119000,-0.668000,-1.191000,0.992000,0.948000,0.407000,11.7184
missense_variant,MRVI1,MISSENSE,NM_130385.3:p.Glu9Gly/c.26A>G,gAg/gGg,MODERATE,,0.760783,0.8562,rs10770136,0.42(T),0.001(B),,-1.0607(T),,chr11,10715124,10715124,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu9Gly/c.26A>G|706|MRVI1|protein_coding|CODING|NM_001206880.1|1|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu9Gly/c.26A>G|912|MRVI1|protein_coding|CODING|NM_130385.3|1|1),5_prime_UTR_variant(MODIFIER||59554|c.-195A>G|821|MRVI1|protein_coding|CODING|NM_001100163.2|1|1),5_prime_UTR_variant(MODIFIER||67189|c.-709A>G|597|MRVI1|protein_coding|CODING|NM_001206881.1|1|1),upstream_gene_variant(MODIFIER||3||597|MRVI1|protein_coding|CODING|NM_001100167.2||1)","IMR90:H2BK120ac,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,IMR90:H3K56ac,IMR90:H4K5ac,IMR90:H3K4me2,IMR90:DNase1,IMR90:H3K23ac,NH-A:DNase1,IMR90:H3K4ac,HMEC:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,IMR90:H4K91ac,HepG2:H3K27me3,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.6902,0.8098,0.7167,,,,,,0.000(P),"2.86,2.44(T,T)",0.0000(T),0.08,1.577495,5.88,3.53,-1.163000,0.127000,1.605000,0.940000,1.000000,1.000000,7.0713
synonymous_variant,CTR9,SILENT,NM_014633.3:p.His487His/c.1461C>T,caC/caT,LOW,COSM4145205(1),0.611621,0.7847,rs3736326,,,,,,chr11,10786142,10786142,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His487His/c.1461C>T|1173|CTR9|protein_coding|CODING|NM_014633.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.7608,0.6014,0.51,0.36,0.59,,,,,,,,,,,,,,,,
synonymous_variant,EIF4G2,SILENT,NM_001172705.1:p.Pro524Pro/c.1572G>A,ccG/ccA,LOW,,0.988818,1,rs7951708,,,,,,chr11,10822350,10822350,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro486Pro/c.1458G>A|869|EIF4G2|protein_coding|CODING|NM_001042559.2|15|1|WARNING_TRANSCRIPT_NO_START_CODON),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro524Pro/c.1572G>A|907|EIF4G2|protein_coding|CODING|NM_001172705.1|16|1|WARNING_TRANSCRIPT_NO_START_CODON),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro524Pro/c.1572G>A|907|EIF4G2|protein_coding|CODING|NM_001418.3|16|1|WARNING_TRANSCRIPT_NO_START_CODON),downstream_gene_variant(MODIFIER||664|||SNORD97||NON_CODING|NR_004403.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GALNT18,SILENT,NM_198516.2:p.Leu605Leu/c.1815C>G,ctC/ctG,LOW,COSM147145(1),0.400359,0.38,rs10831567,,,,,,chr11,11292700,11292700,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu605Leu/c.1815C>G|607|GALNT18|protein_coding|CODING|NM_198516.2|11|1),"GM12878:H3K36me3,NHEK:H3K36me3",,,,0.4254,0.5058,0.4294,0.40,0.35,0.43,,,,,,,,,,,,,,,,
synonymous_variant,GALNT18,SILENT,NM_198516.2:p.Ala437Ala/c.1311A>G,gcA/gcG,LOW,COSM428439(1),0.434704,0.5764,rs386620164,,,,,,chr11,11354346,11354346,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala437Ala/c.1311A>G|607|GALNT18|protein_coding|CODING|NM_198516.2|8|1),"GM12878:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.4928,0.4452,0.3559,0.37,0.34,0.38,,,,,,,,,,,,,,,,
missense_variant,CSNK2A3,MISSENSE,NM_001256686.1:p.Thr387Ala/c.1159A>G,Act/Gct,MODERATE,,0.951677,1,rs7948121,,,,,,chr11,11373508,11373508,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr387Ala/c.1159A>G|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-10957A>G|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9856,0.998,,,,,,,,,,,,,,,,,,,
synonymous_variant,CSNK2A3,SILENT,NM_001256686.1:p.Thr360Thr/c.1080T>C,acT/acC,LOW,,0.951278,1,rs7945066,,,,,,chr11,11373587,11373587,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr360Thr/c.1080T>C|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11036T>C|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9856,0.998,,,,,,,,,,,,,,,,,,,
synonymous_variant,CSNK2A3,SILENT,NM_001256686.1:p.Thr344Thr/c.1032G>A,acG/acA,LOW,,0.949681,1,rs1056963,,,,,,chr11,11373635,11373635,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr344Thr/c.1032G>A|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11084G>A|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9856,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,CSNK2A3,MISSENSE,NM_001256686.1:p.Ser287Arg/c.859A>C,Agt/Cgt,MODERATE,,0.948083,1,rs1056951,,,,,,chr11,11373808,11373808,T,G,hom,"missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser287Arg/c.859A>C|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11257A>C|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9856,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,CSNK2A3,MISSENSE,NM_001256686.1:p.Phe248Val/c.742T>G,Ttt/Gtt,MODERATE,,0.945887,1,rs4243927,,,,,,chr11,11373925,11373925,A,C,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe248Val/c.742T>G|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11374T>G|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9856,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,CSNK2A3,MISSENSE,NM_001256686.1:p.Arg236His/c.707G>A,cGt/cAt,MODERATE,,0.625,0.6607,rs2071461,,,,,,chr11,11373960,11373960,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg236His/c.707G>A|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11409G>A|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7669,0.6326,0.7256,,,,,,,,,,,,,,,,,,,
missense_variant,CSNK2A3,MISSENSE,NM_001256686.1:p.Arg217Ser/c.651A>T,agA/agT,MODERATE,,0.944289,1,rs2896586,,,,,,chr11,11374016,11374016,T,A,hom,"missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg217Ser/c.651A>T|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11465A>T|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9949,0.9856,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,CSNK2A3,MISSENSE,NM_001256686.1:p.Ile133Thr/c.398T>C,aTt/aCt,MODERATE,COSN405261,0.420527,0.5248,rs2071460,,,,,,chr11,11374269,11374269,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile133Thr/c.398T>C|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11718T>C|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5389,0.4553,0.4791,,,,,,,,,,,,,,,,,,,
missense_variant,CSNK2A3,MISSENSE,NM_001256686.1:p.Leu128Phe/c.384A>C,ttA/ttC,MODERATE,,0.946086,1,rs2896585,,,,,,chr11,11374283,11374283,T,G,hom,"missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu128Phe/c.384A>C|391|CSNK2A3|protein_coding|CODING|NM_001256686.1|1|1),intron_variant(MODIFIER|||c.1093-11732A>C|607|GALNT18|protein_coding|CODING|NM_198516.2|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9856,0.998,,,,,,,,,,,,,,,,,,,
missense_variant,USP47,MISSENSE,NM_001282659.1:p.Gly143Val/c.428G>T,gGg/gTg,MODERATE,COSM3752173(1),0.823682,0.8562,rs11022079,0.51(T),"0.0,0.0(B,B)",-0.895(N),-1.0140(T),,chr11,11913585,11913585,G,T,hom,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly143Val/c.428G>T|1355|USP47|protein_coding|CODING|NM_001282659.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly75Val/c.224G>T|1287|USP47|protein_coding|CODING|NM_017944.3|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.771,0.7608,0.7018,0.78,0.92,0.71,,0.000518(N),0.000(P),"3.7,3.66,3.66(T,T,T)",0.0000(T),0.194,0.776358,5.08,5.08,-0.374000,0.867000,2.365000,0.990000,1.000000,1.000000,12.1561
synonymous_variant,USP47,SILENT,NM_001282659.1:p.Gln1270Gln/c.3810G>A,caG/caA,LOW,COSM3998261(2),0.714257,0.4861,rs7933089,,,,,,chr11,11976628,11976628,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1270Gln/c.3810G>A|1355|USP47|protein_coding|CODING|NM_001282659.1|27|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1202Gln/c.3606G>A|1287|USP47|protein_coding|CODING|NM_017944.3|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.681,0.8429,0.6879,0.73,0.86,0.67,,,,,,,,,,,,,,,,
missense_variant,DKK3,MISSENSE,NM_001018057.1:p.Arg335Gly/c.1003A>G,Agg/Ggg,MODERATE,COSM3998264(2),0.812101,0.7907,rs3206824,0.42(T),"0.0,0.0,0.0(B,B,B)",-0.69(N),-1.0006(T),,chr11,11986061,11986061,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg335Gly/c.1003A>G|350|DKK3|protein_coding|CODING|NM_001018057.1|7|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg335Gly/c.1003A>G|350|DKK3|protein_coding|CODING|NM_013253.4|8|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg335Gly/c.1003A>G|350|DKK3|protein_coding|CODING|NM_015881.5|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8405,0.8761,0.7575,0.77,0.81,0.75,,0.085951(N),1.000(P),"2.29,2.29,2.29,1.55(T,T,T,T)",0.0000(T),0.029,-1.099641,5.53,-2.65,-0.119000,-0.776000,-0.292000,0.016000,0.000000,0.000000,7.0301
synonymous_variant,MICAL2,SILENT,NM_001282663.1:p.Asn48Asn/c.144C>T,aaC/aaT,LOW,COSM3998270(1),0.176717,0.1528,rs28625145,,,,,,chr11,12183846,12183846,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn48Asn/c.144C>T|1124|MICAL2|protein_coding|CODING|NM_001282663.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn48Asn/c.144C>T|1103|MICAL2|protein_coding|CODING|NM_001282664.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn48Asn/c.144C>T|934|MICAL2|protein_coding|CODING|NM_001282665.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn48Asn/c.144C>T|976|MICAL2|protein_coding|CODING|NM_001282666.1|1|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn48Asn/c.144C>T|955|MICAL2|protein_coding|CODING|NM_001282667.1|1|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn48Asn/c.144C>T|199|MICAL2|protein_coding|CODING|NM_001282668.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn48Asn/c.144C>T|1124|MICAL2|protein_coding|CODING|NM_014632.3|3|1),upstream_gene_variant(MODIFIER||1384|||MIR6124||NON_CODING|NR_106739.1||1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1503,0.2118,0.2107,0.19,0.17,0.20,,,,,,,,,,,,,,,,
missense_variant,MICAL2,MISSENSE,NM_001282663.1:p.Val113Ile/c.337G>A,Gtc/Atc,MODERATE,,0.00778754,0,rs140406273,,"0.028,0.095,0.488,0.174,0.215,0.236(B,B,P,B,B,B)",0.68(N),0.3849(D),,chr11,12225869,12225869,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val113Ile/c.337G>A|1124|MICAL2|protein_coding|CODING|NM_001282663.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val113Ile/c.337G>A|1103|MICAL2|protein_coding|CODING|NM_001282664.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val113Ile/c.337G>A|934|MICAL2|protein_coding|CODING|NM_001282665.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val113Ile/c.337G>A|976|MICAL2|protein_coding|CODING|NM_001282666.1|2|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val113Ile/c.337G>A|955|MICAL2|protein_coding|CODING|NM_001282667.1|2|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val113Ile/c.337G>A|199|MICAL2|protein_coding|CODING|NM_001282668.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val113Ile/c.337G>A|1124|MICAL2|protein_coding|CODING|NM_014632.3|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0327,0.0072,0.002,0.00,0.00,0.00,,0.000001(D),1.000(D),"-3.73,-3.73,-3.73,-3.73,0.65,-0.08,-3.73(D,D,D,D,T,T,D)",0.7694(D),0.605,5.393371,5.7,5.7,0.563000,2.700000,7.989000,0.992000,1.000000,1.000000,19.4289
synonymous_variant,MICAL2,SILENT,NM_001282663.1:p.Arg138Arg/c.414T>G,cgT/cgG,LOW,COSM1352045(1),0.701078,0.6508,rs3763823,,,,,,chr11,12225946,12225946,T,G,het,"synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg138Arg/c.414T>G|1124|MICAL2|protein_coding|CODING|NM_001282663.1|4|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg138Arg/c.414T>G|1103|MICAL2|protein_coding|CODING|NM_001282664.1|3|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg138Arg/c.414T>G|934|MICAL2|protein_coding|CODING|NM_001282665.1|3|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg138Arg/c.414T>G|976|MICAL2|protein_coding|CODING|NM_001282666.1|2|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg138Arg/c.414T>G|955|MICAL2|protein_coding|CODING|NM_001282667.1|2|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg138Arg/c.414T>G|199|MICAL2|protein_coding|CODING|NM_001282668.1|4|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg138Arg/c.414T>G|1124|MICAL2|protein_coding|CODING|NM_014632.3|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6043,0.7089,0.5905,0.65,0.84,0.56,,,,,,,,,,,,,,,,
synonymous_variant,MICAL2,SILENT,NM_001282663.1:p.Arg518Arg/c.1554G>C,cgG/cgC,LOW,,0.274561,0.5387,rs3816921,,,,,,chr11,12246233,12246233,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg518Arg/c.1554G>C|1124|MICAL2|protein_coding|CODING|NM_001282663.1|13|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg518Arg/c.1554G>C|1103|MICAL2|protein_coding|CODING|NM_001282664.1|12|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg518Arg/c.1554G>C|934|MICAL2|protein_coding|CODING|NM_001282665.1|12|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg518Arg/c.1554G>C|976|MICAL2|protein_coding|CODING|NM_001282666.1|11|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg518Arg/c.1554G>C|955|MICAL2|protein_coding|CODING|NM_001282667.1|11|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg518Arg/c.1554G>C|1124|MICAL2|protein_coding|CODING|NM_014632.3|13|1)","CD4:CBP,CD4:H3K18ac,CD4:H2BK5ac,CD4:DNase1,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HMEC:H3K27ac,CD4:H3K27ac,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,GM12878:EBF,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,CD4:H3K4ac,HMEC:H3K4me1,CD4:PolII,HMEC:DNase1,CD4:H2BK120ac,GM12878:DNase1,GM06990:DNase1",,,,0.4008,0.4035,0.1382,0.10,0.05,0.13,,,,,,,,,,,,,,,,
synonymous_variant,MICAL2,SILENT,NM_001282663.1:p.Leu889Leu/c.2667A>G,ctA/ctG,LOW,COSM3752184(1),0.209065,0.2103,rs2270511,,,,,,chr11,12265542,12265542,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu889Leu/c.2667A>G|1124|MICAL2|protein_coding|CODING|NM_001282663.1|21|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu889Leu/c.2667A>G|1103|MICAL2|protein_coding|CODING|NM_001282664.1|20|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu889Leu/c.2667A>G|1124|MICAL2|protein_coding|CODING|NM_014632.3|21|1),intron_variant(MODIFIER|||c.2214+4410A>G|934|MICAL2|protein_coding|CODING|NM_001282665.1|16|1),intron_variant(MODIFIER|||c.2214+4410A>G|976|MICAL2|protein_coding|CODING|NM_001282666.1|15|1),intron_variant(MODIFIER|||c.2214+4410A>G|955|MICAL2|protein_coding|CODING|NM_001282667.1|15|1)","GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2832,0.2651,0.168,0.16,0.18,0.15,,,,,,,,,,,,,,,,
synonymous_variant,MICALCL,SILENT,NM_032867.2:p.Gly143Gly/c.429G>C,ggG/ggC,LOW,COSM4145422(1),0.921725,0.9415,rs10741579,,,,,,chr11,12315407,12315407,G,C,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly143Gly/c.429G>C|695|MICALCL|protein_coding|CODING|NM_032867.2|3|1),"GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8589,0.951,0.9463,0.93,0.93,0.93,,,,,,,,,,,,,,,,
synonymous_variant,MICALCL,SILENT,NM_032867.2:p.Ala246Ala/c.738C>T,gcC/gcT,LOW,,0.922724,0.9415,rs1493951,,,,,,chr11,12315716,12315716,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala246Ala/c.738C>T|695|MICALCL|protein_coding|CODING|NM_032867.2|3|1),"GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8793,0.9496,0.9463,0.93,0.92,0.93,,,,,,,,,,,,,,,,
missense_variant,MICALCL,MISSENSE,NM_032867.2:p.Ala305Thr/c.913G>A,Gca/Aca,MODERATE,,0.922524,0.9415,rs1493953,0.69(T),0.0(B),-0.69(N),-1.0000(T),,chr11,12315891,12315891,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala305Thr/c.913G>A|695|MICALCL|protein_coding|CODING|NM_032867.2|3|1),"GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8793,0.9496,0.9463,0.93,0.92,0.93,,0.689592(N),1.000(P),0.72(T),0.0000(T),0.034,-1.736643,4.62,2.13,-0.893000,0.302000,-0.089000,0.215000,0.162000,0.000000,2.8108
missense_variant,MICALCL,MISSENSE,NM_032867.2:p.Thr471Pro/c.1411A>C,Aca/Cca,MODERATE,COSM4145425(3),0.294529,0.1815,rs3812754,0.38(T),0.063(B),0(N),-0.9679(T),,chr11,12316389,12316389,A,C,het,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr471Pro/c.1411A>C|695|MICALCL|protein_coding|CODING|NM_032867.2|3|1),"NH-A:H3K36me3,K562:Znf263,NHEK:H3K36me3",,,,0.3313,0.3386,0.5537,0.42,0.23,0.50,,,1.000(P),2.6(T),0.0000(T),0.062,-1.425527,0.418,-0.835,-0.661000,-0.631000,-0.872000,0.023000,0.028000,0.001000,.
synonymous_variant,RASSF10,SILENT,NM_001080521.2:p.Gln241Gln/c.723G>A,caG/caA,LOW,,0.0507188,0.001,rs12793946,,,,,,chr11,13031846,13031846,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln241Gln/c.723G>A|507|RASSF10|protein_coding|CODING|NM_001080521.2|1|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HMEC:DNase1,HMEC:H3K4me3,H1ESC:CTCF",,,,0.0552,0.0692,0.1312,0.08,0.03,0.11,,,,,,,,,,,,,,,,
missense_variant,SPON1,MISSENSE,NM_006108.3:p.Asn288Ser/c.863A>G,aAt/aGt,MODERATE,COSM3998352(1),0.438299,0.2401,rs2303973,,,,,,chr11,14264916,14264916,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn288Ser/c.863A>G|806|SPON1|protein_coding|CODING|NM_006108.3|7|1|WARNING_TRANSCRIPT_INCOMPLETE),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4141,0.5591,0.4125,0.48,0.52,0.46,,,,,,,,,,,,,,,,
synonymous_variant,PDE3B,SILENT,NM_000922.3:p.Arg463Arg/c.1389A>G,agA/agG,LOW,COSM147149(1),0.671326,0.6806,rs4757268,,,,,,chr11,14810762,14810762,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg463Arg/c.1389A>G|1112|PDE3B|protein_coding|CODING|NM_000922.3|4|1),"K562:H3K36me3,HepG2:H3K36me3",,,,0.6462,0.7017,0.6173,0.63,0.68,0.61,,,,,,,,,,,,,,,,
synonymous_variant,CYP2R1,SILENT,NM_024514.4:p.Asp353Asp/c.1059C>T,gaC/gaT,LOW,,0.0115815,0,rs117913124,,,,,,chr11,14900931,14900931,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp353Asp/c.1059C>T|501|CYP2R1|protein_coding|CODING|NM_024514.4|4|1),"HUVEC:H3K36me3,K562:H3K36me3",,,,0.0245,0.0086,0.0239,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,CYP2R1,SILENT,NM_024514.4:p.Ser59Ser/c.177C>T,tcC/tcT,LOW,COSM4145565(1),0.349241,0.3681,rs12794714,,,,,,chr11,14913575,14913575,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser59Ser/c.177C>T|501|CYP2R1|protein_coding|CODING|NM_024514.4|1|1),"CD4:H2AZ,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:E2F6,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6",,,,0.4448,0.5144,0.4473,0.34,0.15,0.44,,,,,,,,,,,,,,,,
missense_variant,CALCA,MISSENSE,NM_001033952.2:p.Asn57Asp/c.169A>G,Aac/Gac,MODERATE,,0.986821,1,rs5239,1(T),"0.0,0.0(B,B)",-2.035(N),-0.9809(T),,chr11,14991539,14991539,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn57Asp/c.169A>G|141|CALCA|protein_coding|CODING|NM_001033952.2|3|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn57Asp/c.169A>G|128|CALCA|protein_coding|CODING|NM_001033953.2|3|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn57Asp/c.169A>G|141|CALCA|protein_coding|CODING|NM_001741.2|3|1)","NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,NH-A:H3K27me3,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,NHEK:H3K27me3,K562:Rad21,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,1,0.9986,1,0.98,0.95,1.00,,0.031882(N),0.000(P),"2.05,2.05,2.05,2.05,2.05(T,T,T,T,T)",0.0000(T),0.069,-0.048513,4.72,1.78,-0.119000,0.052000,1.998000,0.731000,0.168000,1.000000,9.803
synonymous_variant,INSC,SILENT,NM_001031853.4:p.Gly228Gly/c.684T>C,ggT/ggC,LOW,,0.893171,0.9762,rs1714376,,,,,,chr11,15199957,15199957,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly228Gly/c.684T>C|579|INSC|protein_coding|CODING|NM_001031853.4|5|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly181Gly/c.543T>C|532|INSC|protein_coding|CODING|NM_001042536.2|5|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly181Gly/c.543T>C|532|INSC|protein_coding|CODING|NM_001278313.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly181Gly/c.543T>C|567|INSC|protein_coding|CODING|NM_001278314.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly181Gly/c.543T>C|520|INSC|protein_coding|CODING|NM_001278315.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly181Gly/c.543T>C|490|INSC|protein_coding|CODING|NM_001278316.1|4|1)",NHEK:H3K27me3,,,,0.9121,0.8991,0.8588,0.84,0.84,0.84,,,,,,,,,,,,,,,,
missense_variant,INSC,MISSENSE,NM_001031853.4:p.Asp329Asn/c.985G>A,Gac/Aac,MODERATE,COSM1604362(1),0.0159744,0,rs61745838,0.03(D),"0.055,0.811,0.042,0.016(B,P,B,B)",1.905(M),-0.9479(T),,chr11,15243047,15243047,G,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp329Asn/c.985G>A|579|INSC|protein_coding|CODING|NM_001031853.4|8|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp282Asn/c.844G>A|532|INSC|protein_coding|CODING|NM_001042536.2|8|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp282Asn/c.844G>A|532|INSC|protein_coding|CODING|NM_001278313.1|7|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp317Asn/c.949G>A|567|INSC|protein_coding|CODING|NM_001278314.1|8|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp282Asn/c.844G>A|520|INSC|protein_coding|CODING|NM_001278315.1|7|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp240Asn/c.718G>A|490|INSC|protein_coding|CODING|NM_001278316.1|6|1)",NHEK:H3K27me3,,,,0.0307,0.0202,0.0338,0.03,0.01,0.04,,0.000000(N),1.000(D),"0.81,0.81,0.82,0.81,0.81,0.82(T,T,T,T,T,T)",0.0618(T),0.046,2.956639,5.24,3.38,-0.137000,0.596000,6.239000,0.796000,0.888000,1.000000,11.3416
synonymous_variant,PLEKHA7,SILENT,NM_175058.4:p.Pro1000Pro/c.3000C>T,ccC/ccT,LOW,COSM3752260(1),0.0642971,0.0714,rs35142528,0.04(D),,,-1.0551(T),,chr11,16812397,16812397,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1000Pro/c.3000C>T|1121|PLEKHA7|protein_coding|CODING|NM_175058.4|21|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0532,0.0821,0.1074,0.07,0.03,0.10,,0.005108(N),0.000(P),1.88(T),0.0023(T),.,1.243791,5.63,4.66,0.561000,1.384000,1.569000,0.905000,1.000000,1.000000,8.9423
synonymous_variant,PLEKHA7,SILENT,NM_175058.4:p.His311His/c.933C>T,caC/caT,LOW,,0.194289,0.1617,rs390974,,,,,,chr11,16848077,16848077,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His311His/c.933C>T|1121|PLEKHA7|protein_coding|CODING|NM_175058.4|10|1),"H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1288,0.2032,0.1352,0.17,0.27,0.12,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHA7,SILENT,NM_175058.4:p.His39His/c.117T>C,caT/caC,LOW,COSM3749144(13),0.707867,0.9653,rs61881311,0(D),,,-1.0614(T),,chr11,17035718,17035718,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His39His/c.117T>C|1121|PLEKHA7|protein_coding|CODING|NM_175058.4|2|1),"H1ESC:USF1,H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HepG2:DNase1,HepG2:H3K27me3",,,,0.7464,0.7334,0.6143,0.63,0.57,0.66,,,0.000(P),,0.0000(T),.,0.885600,3.15,3.15,-1.196000,0.316000,1.878000,0.127000,0.816000,1.000000,8.2593
synonymous_variant,PIK3C2A,SILENT,NM_002645.2:p.Ala413Ala/c.1239A>G,gcA/gcG,LOW,,0.848642,0.5923,rs2302511,,,,,,chr11,17172133,17172133,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala413Ala/c.1239A>G|1686|PIK3C2A|protein_coding|CODING|NM_002645.2|3|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8609,0.9438,0.998,0.96,0.89,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PIK3C2A,SILENT,NM_002645.2:p.Ile90Ile/c.270T>C,atT/atC,LOW,,0.364018,0.1845,rs214936,,,,,,chr11,17191019,17191019,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile90Ile/c.270T>C|1686|PIK3C2A|protein_coding|CODING|NM_002645.2|1|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3834,0.3847,0.497,0.44,0.38,0.46,,,,,,,,,,,,,,,,
splice_donor_variant,NUCB2,protein_coding,NM_005013.2:c.908G>A,,HIGH,,1,1,rs2521998,0.58(T),"0.0,0.0(B,B)",-0.67(N),-0.9713(T),NUCB2:1.00(1);,chr11,17333663,17333663,G,A,hom,"splice_donor_variant(HIGH|||c.908G>A|420|NUCB2|protein_coding|CODING|NM_005013.2|10|1),intron_variant(MODIFIER|||c.907+1G>A|420|NUCB2|protein_coding|CODING|NM_005013.2|10|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000061(N),1.000(P),"-0.41,-0.41,-1.74(T,T,D)",0.0000(T),0.067,0.911882,5.44,3.03,-1.079000,0.043000,4.506000,0.952000,0.998000,1.000000,5.8537
missense_variant,KCNJ11,MISSENSE,NM_000525.3:p.Leu270Val/c.808C>G,Ctg/Gtg,MODERATE,,0.0151757,0,rs1800467,0.09(T),0.007(B),1.16(L),-0.3131(T),,chr11,17408831,17408831,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu183Val/c.547C>G|303|KCNJ11|protein_coding|CODING|NM_001166290.1|2|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu270Val/c.808C>G|390|KCNJ11|protein_coding|CODING|NM_000525.3|1|1)","H1ESC:H3K36me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.0041,0.0245,0.0507,0.03,0.01,0.05,,0.000688(D),0.992(D),"-3.5,-3.5(D,D)",0.2657(T),0.318,0.733876,5.43,5.43,0.561000,2.548000,1.095000,0.357000,1.000000,1.000000,5.5084
synonymous_variant,ABCC8,SILENT,NM_001287174.1:p.Leu830Leu/c.2488C>T,Ctg/Ttg,LOW,,0.120208,0.0208,rs1805036,,,,,,chr11,17434284,17434284,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu829Leu/c.2485C>T|1581|ABCC8|protein_coding|CODING|NM_000352.4|21|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu830Leu/c.2488C>T|1582|ABCC8|protein_coding|CODING|NM_001287174.1|21|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0634,0.0591,0.0954,0.15,0.25,0.10,,,,,,,,,,,,,,,,
synonymous_variant,ABCC8,SILENT,NM_001287174.1:p.His562His/c.1686C>T,caC/caT,LOW,COSM4145596(1),0.429912,0.3125,rs1799857,,,,,,chr11,17452492,17452492,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His562His/c.1686C>T|1581|ABCC8|protein_coding|CODING|NM_000352.4|12|1),synonymous_variant(LOW|SILENT|caC/caT|p.His562His/c.1686C>T|1582|ABCC8|protein_coding|CODING|NM_001287174.1|12|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5225,0.3516,0.4404,0.46,0.47,0.45,,,,,,,,,,,,,,,,
synonymous_variant,ABCC8,SILENT,NM_001287174.1:p.Pro69Pro/c.207T>C,ccT/ccC,LOW,COSM3752266(1),0.439297,0.3611,rs1048099,,,,,,chr11,17496516,17496516,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro69Pro/c.207T>C|1581|ABCC8|protein_coding|CODING|NM_000352.4|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro69Pro/c.207T>C|1582|ABCC8|protein_coding|CODING|NM_001287174.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4765,0.5432,0.497,0.48,0.41,0.51,,,,,,,,,,,,,,,,
missense_variant,USH1C,MISSENSE,NM_153676.3:p.Glu819Asp/c.2457G>C,gaG/gaC,MODERATE,COSM3736036(2),0.420927,0.3026,rs1064074,0.28(T),"0.016,0.03,0.061(B,B,B)",0(N),-0.9592(T),,chr11,17519742,17519742,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu500Asp/c.1500G>C|533|USH1C|protein_coding|CODING|NM_001297764.1|18|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu519Asp/c.1557G>C|552|USH1C|protein_coding|CODING|NM_005709.3|19|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu819Asp/c.2457G>C|899|USH1C|protein_coding|CODING|NM_153676.3|24|1),non_coding_exon_variant(MODIFIER|||n.1592G>C||USH1C||CODING|NR_123738.1|18|1)","H1ESC:USF1,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000041279.1,,0.4366,0.3718,0.5636,0.52,0.43,0.56,,0.000011(D),0.875(P),"1.69,1.69,1.69,1.69(T,T,T,T)",0.0000(T),0.167,2.834873,5.27,3.37,0.561000,1.218000,0.600000,0.994000,0.999000,1.000000,11.099
synonymous_variant,USH1C,SILENT,NM_153676.3:p.Val780Val/c.2340C>T,gtC/gtT,LOW,,0.190495,0.2837,rs10832796,,,,,,chr11,17522638,17522638,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val461Val/c.1383C>T|533|USH1C|protein_coding|CODING|NM_001297764.1|17|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val480Val/c.1440C>T|552|USH1C|protein_coding|CODING|NM_005709.3|18|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val780Val/c.2340C>T|899|USH1C|protein_coding|CODING|NM_153676.3|23|1),non_coding_exon_variant(MODIFIER|||n.1475C>T||USH1C||CODING|NR_123738.1|17|1)","GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000041273.1,,0.1902,0.1902,0.3171,0.21,0.06,0.29,,,,,,,,,,,,,,,,
synonymous_variant,USH1C,SILENT,NM_153676.3:p.Pro396Pro/c.1188A>G,ccA/ccG,LOW,COSM4145600(1),0.516374,0.6716,rs2240487,,,,,,chr11,17542439,17542439,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro377Pro/c.1131A>G|533|USH1C|protein_coding|CODING|NM_001297764.1|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro396Pro/c.1188A>G|552|USH1C|protein_coding|CODING|NM_005709.3|14|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro396Pro/c.1188A>G|899|USH1C|protein_coding|CODING|NM_153676.3|14|1),non_coding_exon_variant(MODIFIER|||n.1297A>G||USH1C||CODING|NR_123738.1|14|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000041251.1,,0.5317,0.6527,0.5338,0.50,0.36,0.58,,,,,,,,,,,,,,,,
missense_variant,OTOG,MISSENSE,NM_001292063.1:p.Gln50Glu/c.148C>G,Caa/Gaa,MODERATE,,0.145567,0.0397,rs76186800,,,,,,chr11,17569527,17569527,C,G,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln50Glu/c.148C>G|2913|OTOG|protein_coding|CODING|NM_001292063.1|2|1),intron_variant(MODIFIER|||c.175-155C>G|2925|OTOG|protein_coding|CODING|NM_001277269.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3088,0.1037,0.1252,,,,,,,,,,,,,,,,,,,
missense_variant,OTOG,MISSENSE,NM_001277269.1:p.Ala1375Pro/c.4123G>C,Gcg/Ccg,MODERATE,,0.826078,0.8294,rs7934079,0.24(T),0.0(B),-1.355(N),-1.0184(T),,chr11,17627613,17627613,G,C,het,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala1375Pro/c.4123G>C|2925|OTOG|protein_coding|CODING|NM_001277269.1|32|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala1363Pro/c.4087G>C|2913|OTOG|protein_coding|CODING|NM_001292063.1|33|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7832,0.7305,0.7157,,,,,0.117749(N),1.000(P),"2.39,2.5,2.87(T,T,T)",0.0000(T),0.101,0.502260,3.96,3.05,-0.216000,0.362000,0.484000,0.004000,0.002000,0.000000,3.9787
missense_variant,OTOG,MISSENSE,NM_001277269.1:p.Arg2838Cys/c.8512C>T,Cgc/Tgc,MODERATE,COSM428770(2),0.000599042,0,rs191662816,0.07(T),,1.195(L),-1.1392(T),,chr11,17667125,17667125,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg2838Cys/c.8512C>T|2925|OTOG|protein_coding|CODING|NM_001277269.1|54|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg2826Cys/c.8476C>T|2913|OTOG|protein_coding|CODING|NM_001292063.1|55|1)",,,,,0.001,0.0029,0,,,,,0.007406(U),1.000(D),"2.29,2.39(T,T)",0.0383(T),0.6,4.271091,5.09,3.0,0.561000,2.363000,4.909000,0.996000,0.995000,1.000000,11.4576
synonymous_variant,MRGPRX3,SILENT,NM_054031.3:p.Ser140Ser/c.420A>G,tcA/tcG,LOW,COSM4145608(1),0.954473,1,rs2468839,,,,,,chr11,18159169,18159169,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser140Ser/c.420A>G|322|MRGPRX3|protein_coding|CODING|NM_054031.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,0.9899,0.997,0.95,0.86,1.00,,,,,,,,,,,,,,,,
missense_variant,MRGPRX3,MISSENSE,NM_054031.3:p.Asn169Asp/c.505A>G,Aat/Gat,MODERATE,COSM3752267(2),0.743011,0.874,rs4274188,1(T),0.001(B),-0.905(N),-0.9746(T),,chr11,18159254,18159254,A,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn169Asp/c.505A>G|322|MRGPRX3|protein_coding|CODING|NM_054031.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.7853,0.8357,0.7773,0.70,0.58,0.77,,0.009926(N),1.000(P),"1.4,1.4(T,T)",0.0000(T),0.01,-1.880533,1.46,-1.77,-0.471000,-1.182000,-2.235000,0.000000,0.000000,0.000000,7.8269
synonymous_variant,MRGPRX4,SILENT,NM_054032.3:p.Val47Val/c.141T>A,gtT/gtA,LOW,COSM3998361(1),0.274361,0.504,rs11024531,,,,,,chr11,18194944,18194944,T,A,hom,synonymous_variant(LOW|SILENT|gtT/gtA|p.Val47Val/c.141T>A|322|MRGPRX4|protein_coding|CODING|NM_054032.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2311,0.3617,0.2734,0.21,0.12,0.26,,,,,,,,,,,,,,,,
missense_variant,MRGPRX4,MISSENSE,NM_054032.3:p.Leu83Ser/c.248T>C,tTg/tCg,MODERATE,,0.965655,1,rs2445179,0.45(T),0.001(B),-1.58(N),-1.0359(T),,chr11,18195051,18195051,T,C,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu83Ser/c.248T>C|322|MRGPRX4|protein_coding|CODING|NM_054032.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9914,1,0.97,0.90,1.00,,0.735666(N),1.000(P),3.48(T),0.0000(T),0.093,-1.995056,2.95,-1.84,-1.293000,-1.116000,-2.958000,0.000000,0.000000,0.000000,4.0892
missense_variant,SAA2-SAA4,MISSENSE,NM_001199744.1:p.Cys167Tyr/c.500G>A,tGc/tAc,MODERATE,,0.880591,0.8948,rs2460827,1(T),0.0(B),-1.1(N),-1.0184(T),,chr11,18253176,18253176,C,T,hom,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys167Tyr/c.500G>A|208|SAA2-SAA4|protein_coding|CODING|NM_001199744.1|6|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys89Tyr/c.266G>A|130|SAA4|protein_coding|CODING|NM_006512.3|4|1)",HepG2:H3K36me3,,,,0.9622,0.9553,0.9732,0.90,0.75,0.97,,,1.000(P),2.05(T),0.0000(T),0.021,-0.218880,2.82,-5.63,-0.516000,-2.648000,0.898000,0.000000,0.000000,0.078000,7.1632
missense_variant,SAA2,MISSENSE,NM_030754.4:p.Arg89His/c.266G>A,cGt/cAt,MODERATE,,0.770966,0.9276,rs2468844,0.63(T),,,-1.0616(T),,chr11,18267027,18267027,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg89His/c.266G>A|122|SAA2|protein_coding|CODING|NM_030754.4|4|1),intron_variant(MODIFIER|||c.230+430G>A|208|SAA2-SAA4|protein_coding|CODING|NM_001199744.1|3|1),intron_variant(MODIFIER|||c.230+430G>A|83|SAA2|protein_coding|CODING|NM_001127380.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.7014,0.7839,0.8857,0.80,0.68,0.86,,0.601911(N),1.000(P),"2.88,2.88,2.88(T,T,T)",0.0000(T),0.013,0.232102,5.01,-10.0,-2.276000,-4.224000,-1.207000,0.004000,0.000000,0.000000,10.2357
missense_variant,SAA2-SAA4,MISSENSE,NM_001199744.1:p.Val75Ala/c.224T>C,gTg/gCg,MODERATE,COSM4145612(1),,,rs74872559,0.05(D),"0.138,0.019(B,B)",,-1.0771(T),,chr11,18267463,18267463,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val75Ala/c.224T>C|83|SAA2|protein_coding|CODING|NM_001127380.2|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val75Ala/c.224T>C|208|SAA2-SAA4|protein_coding|CODING|NM_001199744.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val75Ala/c.224T>C|122|SAA2|protein_coding|CODING|NM_030754.4|3|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K27ac,GM12878:H3K36me3,CD4:H4K8ac,K562:H3K27me3,CD4:H4K5ac,IMR90:H3K27me3,GM12878:H3K4me1,GM12878:H3K4me2",,,,,,,,,,,0.000651(D),0.594(N),"2.71,2.71,2.71,2.71,2.71,2.71(T,T,T,T,T,T)",0.0296(T),0.739,1.215065,5.09,2.67,-0.336000,0.326000,4.142000,0.244000,0.067000,0.992000,9.0372
synonymous_variant,SAA2-SAA4,SILENT,NM_001199744.1:p.Ala72Ala/c.216T>C,gcT/gcC,LOW,,,,rs1136766,,,,,,chr11,18267471,18267471,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala72Ala/c.216T>C|83|SAA2|protein_coding|CODING|NM_001127380.2|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala72Ala/c.216T>C|208|SAA2-SAA4|protein_coding|CODING|NM_001199744.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala72Ala/c.216T>C|122|SAA2|protein_coding|CODING|NM_030754.4|3|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K27ac,GM12878:H3K36me3,CD4:H4K8ac,K562:H3K27me3,CD4:H4K5ac,IMR90:H3K27me3,GM12878:H3K4me1,GM12878:H3K4me2",,,,,,,0.46,0.44,0.47,,,,,,,,,,,,,,,,
missense_variant,SAA2-SAA4,MISSENSE,NM_001199744.1:p.Ala70Val/c.209C>T,gCc/gTc,MODERATE,COSM304951(5),,,rs79620496,0.66(T),"0.086,0.007(B,B)",,-1.0091(T),,chr11,18267478,18267478,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala70Val/c.209C>T|83|SAA2|protein_coding|CODING|NM_001127380.2|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala70Val/c.209C>T|208|SAA2-SAA4|protein_coding|CODING|NM_001199744.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala70Val/c.209C>T|122|SAA2|protein_coding|CODING|NM_030754.4|3|1)","HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K27ac,GM12878:H3K36me3,CD4:H4K8ac,K562:H3K27me3,CD4:H4K5ac,IMR90:H3K27me3,GM12878:H3K4me1,GM12878:H3K4me2",,,,,,,,,,,0.085450(N),1.000(N),"3.02,3.02,3.02,3.02,3.02,3.02(T,T,T,T,T,T)",0.0087(T),0.166,-1.431239,5.08,-9.57,-1.980000,-2.559000,-0.534000,0.116000,0.000000,0.000000,8.2163
missense_variant,SAA1,MISSENSE,NM_000331.4:p.Val75Ala/c.224T>C,gTg/gCg,MODERATE,COSM4145613(1),,,rs1136747,0.05(D),0.994(D),,-0.8905(T),,chr11,18290874,18290874,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val75Ala/c.224T>C|122|SAA1|protein_coding|CODING|NM_000331.4|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val75Ala/c.224T>C|122|SAA1|protein_coding|CODING|NM_001178006.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val75Ala/c.224T>C|122|SAA1|protein_coding|CODING|NM_199161.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,0.003978(N),1.000(P),"2.71,2.71,2.71(T,T,T)",0.0000(T),0.149,1.488842,3.22,-3.1,-0.565000,-0.592000,1.543000,0.025000,0.003000,1.000000,1.0398
splice_donor_variant,SAA1,protein_coding,NM_000331.4:c.229C>G,,HIGH,,0.992812,1,rs1671926,1(T),,,-0.9648(T),SAA1:1.00(3);,chr11,18290880,18290880,C,G,hom,"splice_donor_variant(HIGH|||c.229C>G|122|SAA1|protein_coding|CODING|NM_000331.4|3|1),splice_donor_variant(HIGH|||c.229C>G|122|SAA1|protein_coding|CODING|NM_001178006.1|4|1),splice_donor_variant(HIGH|||c.229C>G|122|SAA1|protein_coding|CODING|NM_199161.3|3|1),intron_variant(MODIFIER|||c.228+2C>G|122|SAA1|protein_coding|CODING|NM_000331.4|3|1),intron_variant(MODIFIER|||c.228+2C>G|122|SAA1|protein_coding|CODING|NM_001178006.1|4|1),intron_variant(MODIFIER|||c.228+2C>G|122|SAA1|protein_coding|CODING|NM_199161.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,1,0.9957,1,,,,,0.000000(N),1.000(P),"3.75,3.75,3.75(T,T,T)",0.0000(T),0.174,-0.790186,3.23,2.31,-0.368000,0.392000,4.508000,0.057000,0.321000,1.000000,6.0724
synonymous_variant,LDHA,SILENT,NM_001165414.1:p.Ile145Ile/c.435C>A,atC/atA,LOW,COSM3752269(1),0.0974441,0.0645,rs61736803,,,,,,chr11,18422487,18422487,C,A,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile145Ile/c.435C>A|361|LDHA|protein_coding|CODING|NM_001165414.1|4|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile116Ile/c.348C>A|274|LDHA|protein_coding|CODING|NM_001165415.1|4|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile116Ile/c.348C>A|241|LDHA|protein_coding|CODING|NM_001165416.1|4|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile116Ile/c.348C>A|332|LDHA|protein_coding|CODING|NM_005566.3|4|1),intron_variant(MODIFIER|||c.244+1392C>A|274|LDHA|protein_coding|CODING|NM_001135239.1|3|1),non_coding_exon_variant(MODIFIER|||n.502C>A||LDHA||CODING|NR_028500.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1043,0.1527,0.1521,0.14,0.08,0.17,,,,,,,,,,,,,,,,
synonymous_variant,LDHA,SILENT,NM_001165414.1:p.Ser190Ser/c.570C>T,agC/agT,LOW,COSM3773595(1),0.634585,0.6478,rs5030621,,,,,,chr11,18424451,18424451,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser103Ser/c.309C>T|274|LDHA|protein_coding|CODING|NM_001135239.1|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser190Ser/c.570C>T|361|LDHA|protein_coding|CODING|NM_001165414.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser161Ser/c.483C>T|274|LDHA|protein_coding|CODING|NM_001165415.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser161Ser/c.483C>T|241|LDHA|protein_coding|CODING|NM_001165416.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser161Ser/c.483C>T|332|LDHA|protein_coding|CODING|NM_005566.3|5|1),non_coding_exon_variant(MODIFIER|||n.637C>T||LDHA||CODING|NR_028500.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7413,0.7334,0.7336,0.63,0.48,0.71,,,,,,,,,,,,,,,,
synonymous_variant,LDHA,SILENT,NM_001165414.1:p.Leu202Leu/c.606A>G,ctA/ctG,LOW,,0.634585,0.6478,rs4820,,,,,,chr11,18424487,18424487,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu115Leu/c.345A>G|274|LDHA|protein_coding|CODING|NM_001135239.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu202Leu/c.606A>G|361|LDHA|protein_coding|CODING|NM_001165414.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu173Leu/c.519A>G|274|LDHA|protein_coding|CODING|NM_001165415.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu173Leu/c.519A>G|241|LDHA|protein_coding|CODING|NM_001165416.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu173Leu/c.519A>G|332|LDHA|protein_coding|CODING|NM_005566.3|5|1),non_coding_exon_variant(MODIFIER|||n.673A>G||LDHA||CODING|NR_028500.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7413,0.7334,0.7336,0.63,0.48,0.71,,,,,,,,,,,,,,,,
synonymous_variant,LDHC,SILENT,NM_002301.4:p.Leu259Leu/c.775T>C,Ttg/Ctg,LOW,,0.998802,1,rs2658565,,,,,,chr11,18467821,18467821,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu259Leu/c.775T>C|332|LDHC|protein_coding|CODING|NM_002301.4|7|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu259Leu/c.775T>C|332|LDHC|protein_coding|CODING|NM_017448.3|7|1)",,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,UEVLD,SILENT,NM_001040697.2:p.Val408Val/c.1224G>C,gtG/gtC,LOW,,0.251997,0.4415,rs56151250,,,,,,chr11,18555901,18555901,C,G,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val408Val/c.1224G>C|471|UEVLD|protein_coding|CODING|NM_001040697.2|11|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val386Val/c.1158G>C|449|UEVLD|protein_coding|CODING|NM_001261382.1|10|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val278Val/c.834G>C|341|UEVLD|protein_coding|CODING|NM_001261384.1|9|1),intron_variant(MODIFIER|||c.1059-1867G>C|357|UEVLD|protein_coding|CODING|NM_001261383.1|9|1),intron_variant(MODIFIER|||c.1011-1867G>C|341|UEVLD|protein_coding|CODING|NM_001261385.1|10|1),intron_variant(MODIFIER|||c.1125-1867G>C|379|UEVLD|protein_coding|CODING|NM_018314.4|10|1),intron_variant(MODIFIER|||c.590-1867G>C|199|UEVLD|protein_coding|CODING|NM_001261386.1|6|1)","HeLa-S3:DNase1,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4029,0.2363,0.1958,0.13,0.07,0.15,,,,,,,,,,,,,,,,
synonymous_variant,UEVLD,SILENT,NM_001040697.2:p.Leu392Leu/c.1176A>G,ctA/ctG,LOW,,0.251997,0.4415,rs55999230,,,,,,chr11,18555949,18555949,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu392Leu/c.1176A>G|471|UEVLD|protein_coding|CODING|NM_001040697.2|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu370Leu/c.1110A>G|449|UEVLD|protein_coding|CODING|NM_001261382.1|10|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu262Leu/c.786A>G|341|UEVLD|protein_coding|CODING|NM_001261384.1|9|1),intron_variant(MODIFIER|||c.1059-1915A>G|357|UEVLD|protein_coding|CODING|NM_001261383.1|9|1),intron_variant(MODIFIER|||c.1011-1915A>G|341|UEVLD|protein_coding|CODING|NM_001261385.1|10|1),intron_variant(MODIFIER|||c.1125-1915A>G|379|UEVLD|protein_coding|CODING|NM_018314.4|10|1),intron_variant(MODIFIER|||c.590-1915A>G|199|UEVLD|protein_coding|CODING|NM_001261386.1|6|1)","HeLa-S3:DNase1,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4029,0.2363,0.1958,0.13,0.07,0.16,,,,,,,,,,,,,,,,
synonymous_variant,UEVLD,SILENT,NM_001040697.2:p.Arg26Arg/c.76A>C,Agg/Cgg,LOW,,0.164137,0.2579,rs10500835,,,,,,chr11,18600322,18600322,T,G,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg26Arg/c.76A>C|471|UEVLD|protein_coding|CODING|NM_001040697.2|2|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg26Arg/c.76A>C|449|UEVLD|protein_coding|CODING|NM_001261382.1|2|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg26Arg/c.76A>C|357|UEVLD|protein_coding|CODING|NM_001261383.1|2|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg26Arg/c.76A>C|199|UEVLD|protein_coding|CODING|NM_001261386.1|2|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg26Arg/c.76A>C|215|UEVLD|protein_coding|CODING|NM_001297771.1|2|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg26Arg/c.76A>C|379|UEVLD|protein_coding|CODING|NM_018314.4|2|1),5_prime_UTR_variant(MODIFIER||39|c.-39A>C|341|UEVLD|protein_coding|CODING|NM_001261385.1|2|1),intron_variant(MODIFIER|||c.-99-3363A>C|341|UEVLD|protein_coding|CODING|NM_001261384.1|1|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2873,0.1787,0.1402,0.09,0.04,0.12,,,,,,,,,,,,,,,,
synonymous_variant,SPTY2D1,SILENT,NM_194285.2:p.Ala439Ala/c.1317A>G,gcA/gcG,LOW,,0.0219649,0.001,rs61884737,,,,,,chr11,18636504,18636504,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala439Ala/c.1317A>G|685|SPTY2D1|protein_coding|CODING|NM_194285.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0429,0.0187,0.0527,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,IGSF22,MISSENSE,NM_173588.3:p.Ile1131Val/c.3391A>G,Atc/Gtc,MODERATE,COSM3752277(1),0.189097,0.1339,rs2289965,0.78(T),0.0(B),0.14(N),-0.9434(T),,chr11,18728650,18728650,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1131Val/c.3391A>G|1326|IGSF22|protein_coding|CODING|NM_173588.3|21|1),"CD4:H2AZ,CD4:H3K18ac,HUVEC:H3K27me3,CD4:H2BK5ac,GM12878:H3K27me3,CD4:DNase1,CD4:H2BK20ac,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K27ac,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1554,0.3429,0.3976,0.30,0.08,0.40,,,1.000(P),0.46(T),0.0000(T),0.007,0.848099,3.57,2.53,-0.213000,0.218000,-0.206000,0.490000,0.252000,0.000000,4.9575
synonymous_variant,IGSF22,SILENT,NM_173588.3:p.Thr649Thr/c.1947G>A,acG/acA,LOW,,0.00638978,0,rs142826555,,,,,,chr11,18735547,18735547,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr649Thr/c.1947G>A|1326|IGSF22|protein_coding|CODING|NM_173588.3|14|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0072,0.0202,0.0099,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,IGSF22,MISSENSE,NM_173588.3:p.Met559Val/c.1675A>G,Atg/Gtg,MODERATE,,0.75619,0.8125,rs7125943,0.61(T),0.0(B),-1.195(N),-1.0122(T),,chr11,18735947,18735947,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met559Val/c.1675A>G|1326|IGSF22|protein_coding|CODING|NM_173588.3|13|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5818,0.7075,0.7783,0.77,0.82,0.75,,0.445853(N),1.000(P),1.17(T),0.0000(T),0.014,-2.461414,4.42,-2.12,-0.954000,-0.897000,-0.173000,0.392000,0.001000,0.001000,11.1401
missense_variant,IGSF22,MISSENSE,NM_173588.3:p.Arg472Gln/c.1415G>A,cGa/cAa,MODERATE,,0.749401,0.8125,rs4424652,0.26(T),0.035(B),1(L),-0.9858(T),,chr11,18737095,18737095,C,T,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg472Gln/c.1415G>A|1326|IGSF22|protein_coding|CODING|NM_173588.3|11|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5849,0.7032,0.7734,0.76,0.79,0.74,,0.005652(N),1.000(P),-0.27(T),0.0000(T),0.085,0.899532,4.79,2.53,0.455000,0.249000,1.983000,0.595000,0.814000,0.967000,5.0144
missense_variant,IGSF22,MISSENSE,NM_173588.3:p.Val414Ile/c.1240G>A,Gtt/Att,MODERATE,,0.749002,0.8125,rs10766494,0.19(T),0.001(B),2.485(M),-1.0070(T),,chr11,18738281,18738281,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val414Ile/c.1240G>A|1326|IGSF22|protein_coding|CODING|NM_173588.3|10|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5828,0.7032,0.7724,0.76,0.80,0.74,,0.047319(N),1.000(P),0.0(T),0.0000(T),0.05,0.637650,4.88,3.75,-0.254000,0.237000,1.514000,0.719000,0.895000,0.975000,7.7518
synonymous_variant,PTPN5,SILENT,NM_006906.1:p.Val521Val/c.1563G>A,gtG/gtA,LOW,,0.317492,0.2619,rs1550870,,,,,,chr11,18751041,18751041,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val489Val/c.1467G>A|533|PTPN5|protein_coding|CODING|NM_001039970.1|14|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val489Val/c.1467G>A|533|PTPN5|protein_coding|CODING|NM_001278236.1|14|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val497Val/c.1491G>A|541|PTPN5|protein_coding|CODING|NM_001278238.1|13|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val465Val/c.1395G>A|509|PTPN5|protein_coding|CODING|NM_001278239.1|13|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val521Val/c.1563G>A|565|PTPN5|protein_coding|CODING|NM_006906.1|14|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val521Val/c.1563G>A|565|PTPN5|protein_coding|CODING|NM_032781.3|14|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2536,0.3055,0.4423,0.41,0.32,0.46,,,,,,,,,,,,,,,,
synonymous_variant,MRGPRX1,SILENT,NM_147199.3:p.Leu196Leu/c.588G>A,ctG/ctA,LOW,COSM147160(3),0.295327,0.3879,rs11599929,,,,,,chr11,18955744,18955744,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu196Leu/c.588G>A|322|MRGPRX1|protein_coding|CODING|NM_147199.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.317,0.2695,0.2237,0.24,0.28,0.22,,,,,,,,,,,,,,,,
synonymous_variant,MRGPRX1,SILENT,NM_147199.3:p.Ala46Ala/c.138A>G,gcA/gcG,LOW,COSM1353107(2),0.363219,0.3075,rs2014931,,,,,,chr11,18956194,18956194,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala46Ala/c.138A>G|322|MRGPRX1|protein_coding|CODING|NM_147199.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.409,0.3588,0.4026,0.37,0.34,0.39,,,,,,,,,,,,,,,,
missense_variant,MRGPRX1,MISSENSE,NM_147199.3:p.Ala46Thr/c.136G>A,Gca/Aca,MODERATE,COSM147161(5),,,rs78179510,0.26(T),0.746(P),1.73(L),-0.9842(T),,chr11,18956196,18956196,C,T,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala46Thr/c.136G>A|322|MRGPRX1|protein_coding|CODING|NM_147199.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,0.15,0.16,0.15,,0.915990(N),1.000(P),2.99(T),0.0000(T),0.052,2.554820,2.43,-0.872,0.491000,-0.190000,-0.160000,0.047000,0.004000,0.000000,7.0239
missense_variant,MRGPRX2,MISSENSE,NM_054030.2:p.Asn62Ser/c.185A>G,aAc/aGc,MODERATE,COSM147163(3),0.31849,0.2659,rs10833049,0.02(D),0.817(P),1.81(L),-0.9024(T),,chr11,19077765,19077765,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn62Ser/c.185A>G|330|MRGPRX2|protein_coding|CODING|NM_054030.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1789,0.2781,0.2614,0.34,0.47,0.27,,0.000064(D),1.000(P),3.02(T),0.0000(T),0.012,2.515471,5.14,1.41,0.533000,0.130000,0.390000,0.447000,0.001000,0.172000,2.9449
missense_variant,ZDHHC13,MISSENSE,NM_019028.2:p.Lys99Arg/c.296A>G,aAg/aGg,MODERATE,,0.607628,0.7262,rs2271001,0.46(T),0.066(B),0.485(N),-0.9667(T),,chr11,19167850,19167850,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys99Arg/c.296A>G|622|ZDHHC13|protein_coding|CODING|NM_019028.2|3|1),splice_region_variant(LOW||||492|ZDHHC13|protein_coding|CODING|NM_001001483.2|2|1),splice_region_variant(LOW|||c.296A>G|622|ZDHHC13|protein_coding|CODING|NM_019028.2|3|1),5_prime_UTR_variant(MODIFIER||2900|c.-95A>G|492|ZDHHC13|protein_coding|CODING|NM_001001483.2|2|1)","HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6544,0.7752,0.6978,0.62,0.41,0.72,,0.000000(N),0.000(P),-0.25(T),0.0000(T),0.078,2.286958,5.37,4.23,0.383000,0.970000,4.421000,0.981000,1.000000,1.000000,9.9435
synonymous_variant,CSRP3,SILENT,NM_003476.4:p.Ala112Ala/c.336G>A,gcG/gcA,LOW,COSM3749151(1),0.0427316,0.0069,rs13451,,,,,,chr11,19207841,19207841,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala112Ala/c.336G>A|194|CSRP3|protein_coding|CODING|NM_003476.4|5|1),HepG2:H3K27me3,,RCV000037782.1|RCV000124617.1,,0.0562,0.0519,0.1103,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,NAV2,MISSENSE,NM_001244963.1:p.Arg109Lys/c.326G>A,aGg/aAg,MODERATE,COSM3752288(3),0.405751,0.3542,rs6483617,,"0.0,0.0(B,B)",-1.24(N),-0.9555(T),,chr11,19854088,19854088,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg45Lys/c.134G>A|2365|NAV2|protein_coding|CODING|NM_001111018.1|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg109Lys/c.326G>A|2488|NAV2|protein_coding|CODING|NM_001244963.1|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg109Lys/c.326G>A|2429|NAV2|protein_coding|CODING|NM_145117.4|2|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg109Lys/c.326G>A|2432|NAV2|protein_coding|CODING|NM_182964.5|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1943,0.3804,0.337,0.43,0.66,0.32,,0.000004(N),0.000(P),"0.43,0.43,0.43,0.43,0.43,0.43(T,T,T,T,T,T)",0.0000(T),0.193,0.963756,5.83,5.83,-0.361000,1.042000,6.383000,0.991000,1.000000,1.000000,11.7222
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Lys593Lys/c.1779A>G,aaA/aaG,LOW,,0.733427,0.6438,rs1372989,,,,,,chr11,19955500,19955500,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys506Lys/c.1518A>G|2365|NAV2|protein_coding|CODING|NM_001111018.1|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys593Lys/c.1779A>G|2488|NAV2|protein_coding|CODING|NM_001244963.1|8|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys570Lys/c.1710A>G|2429|NAV2|protein_coding|CODING|NM_145117.4|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys570Lys/c.1710A>G|2432|NAV2|protein_coding|CODING|NM_182964.5|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.726,0.7911,0.9066,0.84,0.68,0.92,,,,,,,,,,,,,,,,
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Asp882Asp/c.2646T>C,gaT/gaC,LOW,,0.963059,1,rs2585773,,,,,,chr11,19970558,19970558,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp795Asp/c.2385T>C|2365|NAV2|protein_coding|CODING|NM_001111018.1|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp882Asp/c.2646T>C|2488|NAV2|protein_coding|CODING|NM_001244963.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp859Asp/c.2577T>C|2429|NAV2|protein_coding|CODING|NM_145117.4|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp859Asp/c.2577T>C|2432|NAV2|protein_coding|CODING|NM_182964.5|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM06990:H3K36me3",,,,1,0.9885,1,0.97,0.90,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Asp889Asp/c.2667C>T,gaC/gaT,LOW,,0.943091,1,rs2707084,,,,,,chr11,19970579,19970579,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp802Asp/c.2406C>T|2365|NAV2|protein_coding|CODING|NM_001111018.1|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp889Asp/c.2667C>T|2488|NAV2|protein_coding|CODING|NM_001244963.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp866Asp/c.2598C>T|2429|NAV2|protein_coding|CODING|NM_145117.4|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp866Asp/c.2598C>T|2432|NAV2|protein_coding|CODING|NM_182964.5|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM06990:H3K36me3",,,,0.999,0.9813,0.999,0.95,0.84,1.00,,,,,,,,,,,,,,,,
missense_variant,NAV2,MISSENSE,NM_001244963.1:p.Glu1041Asp/c.3123G>T,gaG/gaT,MODERATE,COSM3752289(2),0.270367,0.4504,rs3802799,,"0.99,0.987,0.99,0.185,0.993(D,D,D,B,D)",0.695(N),-0.9206(T),,chr11,20065673,20065673,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu954Asp/c.2862G>T|2365|NAV2|protein_coding|CODING|NM_001111018.1|13|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu104Asp/c.312G>T|1493|NAV2|protein_coding|CODING|NM_001111019.2|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1041Asp/c.3123G>T|2488|NAV2|protein_coding|CODING|NM_001244963.1|14|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1018Asp/c.3054G>T|2429|NAV2|protein_coding|CODING|NM_145117.4|13|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1018Asp/c.3054G>T|2432|NAV2|protein_coding|CODING|NM_182964.5|13|1),non_coding_exon_variant(MODIFIER|||n.501C>A||NAV2-AS2||NON_CODING|NR_046672.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4663,0.2709,0.2227,0.15,0.05,0.20,,0.000015(D),0.000(P),"1.68,1.68,1.68,1.68,1.68,1.68,1.68,1.68,1.68,1.68(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.626,2.420641,5.51,4.5,0.655000,1.169000,2.664000,0.672000,0.994000,1.000000,10.7967
missense_variant,NAV2,MISSENSE,NM_001244963.1:p.Pro1077Ala/c.3229C>G,Cct/Gct,MODERATE,,0.88139,0.9484,rs3802800,,"0.001,0.006,0.005,0.004,0.003(B,B,B,B,B)",0.805(L),-0.9902(T),,chr11,20065779,20065779,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro990Ala/c.2968C>G|2365|NAV2|protein_coding|CODING|NM_001111018.1|13|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro140Ala/c.418C>G|1493|NAV2|protein_coding|CODING|NM_001111019.2|4|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1077Ala/c.3229C>G|2488|NAV2|protein_coding|CODING|NM_001244963.1|14|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1054Ala/c.3160C>G|2429|NAV2|protein_coding|CODING|NM_145117.4|13|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1054Ala/c.3160C>G|2432|NAV2|protein_coding|CODING|NM_182964.5|13|1),non_coding_exon_variant(MODIFIER|||n.395G>C||NAV2-AS2||NON_CODING|NR_046672.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9908,0.8876,0.9861,0.89,0.71,0.98,,0.088065(N),0.362(P),"1.68,1.68,1.68,1.68,1.68,1.68,1.68,1.68,1.68,1.68(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.189,2.369730,5.51,2.17,0.655000,0.631000,0.943000,0.789000,0.911000,0.992000,11.5744
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Ala1722Ala/c.5166A>T,gcA/gcT,LOW,,0.908546,0.9514,rs4757028,,,,,,chr11,20099112,20099112,A,T,het,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala1602Ala/c.4806A>T|2365|NAV2|protein_coding|CODING|NM_001111018.1|23|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala730Ala/c.2190A>T|1493|NAV2|protein_coding|CODING|NM_001111019.2|13|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala1722Ala/c.5166A>T|2488|NAV2|protein_coding|CODING|NM_001244963.1|25|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala1666Ala/c.4998A>T|2429|NAV2|protein_coding|CODING|NM_145117.4|23|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala1666Ala/c.4998A>T|2432|NAV2|protein_coding|CODING|NM_182964.5|23|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9305,0.8977,0.8917,0.87,0.87,0.88,,,,,,,,,,,,,,,,
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Ser1814Ser/c.5442C>T,agC/agT,LOW,,0.90635,0.9563,rs1867114,,,,,,chr11,20101704,20101704,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser1694Ser/c.5082C>T|2365|NAV2|protein_coding|CODING|NM_001111018.1|25|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser822Ser/c.2466C>T|1493|NAV2|protein_coding|CODING|NM_001111019.2|15|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser1758Ser/c.5274C>T|2429|NAV2|protein_coding|CODING|NM_145117.4|25|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser1814Ser/c.5442C>T|2488|NAV2|protein_coding|CODING|NM_001244963.1|27|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser1758Ser/c.5274C>T|2432|NAV2|protein_coding|CODING|NM_182964.5|25|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:Gata2,GM12878:EBF,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K4me2,K562:DNase1",,,,0.9274,0.8847,0.8787,0.86,0.87,0.86,,,,,,,,,,,,,,,,
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Arg1828Arg/c.5482C>A,Cgg/Agg,LOW,,0.931709,0.9583,rs1867115,,,,,,chr11,20101744,20101744,C,A,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1708Arg/c.5122C>A|2365|NAV2|protein_coding|CODING|NM_001111018.1|25|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg836Arg/c.2506C>A|1493|NAV2|protein_coding|CODING|NM_001111019.2|15|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1772Arg/c.5314C>A|2429|NAV2|protein_coding|CODING|NM_145117.4|25|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1828Arg/c.5482C>A|2488|NAV2|protein_coding|CODING|NM_001244963.1|27|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1772Arg/c.5314C>A|2432|NAV2|protein_coding|CODING|NM_182964.5|25|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:Gata2,GM12878:EBF,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K4me2,K562:DNase1",,,,0.9489,0.889,0.8797,0.89,0.94,0.86,,,,,,,,,,,,,,,,
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Pro1873Pro/c.5619G>A,ccG/ccA,LOW,,0.437899,0.3065,rs2028570,,,,,,chr11,20104669,20104669,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1873Pro/c.5619G>A|2488|NAV2|protein_coding|CODING|NM_001244963.1|28|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1817Pro/c.5451G>A|2432|NAV2|protein_coding|CODING|NM_182964.5|26|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1750Pro/c.5250G>A|2365|NAV2|protein_coding|CODING|NM_001111018.1|26|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro878Pro/c.2634G>A|1493|NAV2|protein_coding|CODING|NM_001111019.2|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1814Pro/c.5442G>A|2429|NAV2|protein_coding|CODING|NM_145117.4|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7249,0.4265,0.5765,0.46,0.28,0.56,,,,,,,,,,,,,,,,
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Thr1919Thr/c.5757G>A,acG/acA,LOW,COSM3998368(1),0.499002,0.3254,rs1837971,,,,,,chr11,20112492,20112492,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr1796Thr/c.5388G>A|2365|NAV2|protein_coding|CODING|NM_001111018.1|27|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr924Thr/c.2772G>A|1493|NAV2|protein_coding|CODING|NM_001111019.2|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1919Thr/c.5757G>A|2488|NAV2|protein_coding|CODING|NM_001244963.1|29|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1860Thr/c.5580G>A|2429|NAV2|protein_coding|CODING|NM_145117.4|27|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1863Thr/c.5589G>A|2432|NAV2|protein_coding|CODING|NM_182964.5|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7444,0.4207,0.5139,0.50,0.50,0.49,,,,,,,,,,,,,,,,
synonymous_variant,NAV2,SILENT,NM_001244963.1:p.Gly2236Gly/c.6708A>C,ggA/ggC,LOW,,0.917332,0.9573,rs2243411,,,,,,chr11,20124914,20124914,A,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly2113Gly/c.6339A>C|2365|NAV2|protein_coding|CODING|NM_001111018.1|33|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1241Gly/c.3723A>C|1493|NAV2|protein_coding|CODING|NM_001111019.2|23|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly2236Gly/c.6708A>C|2488|NAV2|protein_coding|CODING|NM_001244963.1|35|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly2177Gly/c.6531A>C|2429|NAV2|protein_coding|CODING|NM_145117.4|33|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly2180Gly/c.6540A>C|2432|NAV2|protein_coding|CODING|NM_182964.5|33|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9519,0.9669,0.9881,0.93,0.82,0.99,,,,,,,,,,,,,,,,
missense_variant,HTATIP2,MISSENSE,NM_001098520.1:p.Ser231Arg/c.693T>G,agT/agG,MODERATE,,0.712061,0.4673,rs3824886,0.17(T),"0.001,0.003(B,B)",-0.365(N),-1.0056(T),,chr11,20404613,20404613,T,G,hom,"missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser231Arg/c.693T>G|276|HTATIP2|protein_coding|CODING|NM_001098520.1|6|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser197Arg/c.591T>G|242|HTATIP2|protein_coding|CODING|NM_001098521.1|6|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser197Arg/c.591T>G|242|HTATIP2|protein_coding|CODING|NM_001098522.1|5|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser197Arg/c.591T>G|242|HTATIP2|protein_coding|CODING|NM_006410.4|6|1)","HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.8896,0.7205,0.9433,0.85,0.64,0.95,,0.006141(N),0.999(P),"1.59,1.59,1.59,1.59,1.67(T,T,T,T,T)",0.0000(T),0.111,1.696674,5.93,-5.58,0.533000,-0.672000,-0.589000,0.140000,0.011000,0.006000,3.8006
missense_variant,PRMT3,MISSENSE,NM_005788.3:p.Ser508Asn/c.1523G>A,aGt/aAt,MODERATE,,0.991414,0.9573,rs6483700,,,-2.115(N),,,chr11,20529886,20529886,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser446Asn/c.1337G>A|469|PRMT3|protein_coding|CODING|NM_001145166.1|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser431Asn/c.1292G>A|454|PRMT3|protein_coding|CODING|NM_001145167.1|15|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser508Asn/c.1523G>A|531|PRMT3|protein_coding|CODING|NM_005788.3|16|1)","HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,1.000(P),,,.,0.283906,5.67,5.67,-0.254000,0.978000,3.897000,0.934000,1.000000,1.000000,8.6221
missense_variant,SLC6A5,MISSENSE,NM_004211.3:p.Gly102Ser/c.304G>A,Ggc/Agc,MODERATE,COSM3752291(7),0.405751,0.3651,rs1443547,0.84(T),0.001(B),-0.345(N),-1.0519(T),,chr11,20622975,20622975,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly102Ser/c.304G>A|797|SLC6A5|protein_coding|CODING|NM_004211.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4315,0.3804,0.3847,0.37,0.44,0.34,,0.142135(N),1.000(P),-0.5(T),0.0000(T),0.028,-0.542827,5.37,-3.96,0.462000,-0.904000,-0.675000,0.164000,0.000000,0.000000,6.8887
missense_variant,SLC6A5,MISSENSE,NM_004211.3:p.Phe124Ser/c.371T>C,tTt/tCt,MODERATE,COSM428827(1),0.793131,0.75,rs1443548,0.26(T),0.0(B),0(N),-0.9829(T),,chr11,20623042,20623042,T,C,hom,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe124Ser/c.371T>C|797|SLC6A5|protein_coding|CODING|NM_004211.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.774,0.745,0.7863,0.80,0.87,0.75,,0.615381(N),1.000(P),-0.48(T),0.0000(T),0.066,0.411159,5.7,2.8,-0.355000,0.078000,3.062000,0.057000,0.299000,0.994000,7.1124
missense_variant,SLC6A5,MISSENSE,NM_004211.3:p.Ala162Gly/c.485C>G,gCc/gGc,MODERATE,,0.99361,1,rs1443549,1(T),0.0(B),-0.975(N),-0.9291(T),,chr11,20623156,20623156,C,G,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala162Gly/c.485C>G|797|SLC6A5|protein_coding|CODING|NM_004211.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,1,1,0.99,0.98,1.00,,0.069721(N),0.998(P),-0.5(T),0.0000(T),0.093,0.909379,5.59,5.59,-0.371000,1.380000,7.389000,0.976000,1.000000,1.000000,15.4474
synonymous_variant,SLC6A5,SILENT,NM_004211.3:p.Thr317Thr/c.951G>A,acG/acA,LOW,COSM3998370(1),0.120607,0.3502,rs1443551,,,,,,chr11,20629164,20629164,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr317Thr/c.951G>A|797|SLC6A5|protein_coding|CODING|NM_004211.3|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0501,0.1686,0.0755,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A5,SILENT,NM_004211.3:p.Ser410Ser/c.1230A>G,tcA/tcG,LOW,,0.997404,1,rs7925597,,,,,,chr11,20639400,20639400,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser410Ser/c.1230A>G|797|SLC6A5|protein_coding|CODING|NM_004211.3|7|1),"HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A5,SILENT,NM_004211.3:p.Glu701Glu/c.2103G>A,gaG/gaA,LOW,COSM3752292(1),0.478235,0.8234,rs2276433,,,,,,chr11,20673867,20673867,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu701Glu/c.2103G>A|797|SLC6A5|protein_coding|CODING|NM_004211.3|15|1),HepG2:H3K27me3,,,,0.5429,0.5562,0.4414,0.32,0.19,0.39,,,,,,,,,,,,,,,,
missense_variant,NELL1,MISSENSE,NM_001288713.1:p.Arg110Gln/c.329G>A,cGg/cAg,MODERATE,,0.637181,0.8393,rs8176785,0.04(D),"0.004,0.065,0.002(B,B,B)",2.015(M),-1.0963(T),,chr11,20805286,20805286,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg110Gln/c.329G>A|838|NELL1|protein_coding|CODING|NM_001288713.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg82Gln/c.245G>A|753|NELL1|protein_coding|CODING|NM_001288714.1|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg82Gln/c.245G>A|810|NELL1|protein_coding|CODING|NM_006157.4|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg82Gln/c.245G>A|763|NELL1|protein_coding|CODING|NM_201551.2|3|1)",,,,,0.7444,0.8256,0.7396,0.60,0.30,0.76,,0.002855(N),0.579(P),"4.41,4.41,4.41,4.41(T,T,T,T)",0.0000(T),0.074,2.746657,5.9,3.07,-0.119000,0.423000,3.332000,0.954000,1.000000,1.000000,11.2438
missense_variant,NELL1,MISSENSE,NM_001288713.1:p.Arg382Trp/c.1144C>T,Cgg/Tgg,MODERATE,COSM3998371(1),0.038139,0.0903,rs8176786,0.2(T),"0.59,0.0,0.022,0.0(P,B,B,B)",1.87(L),-1.1171(T),,chr11,20959394,20959394,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg382Trp/c.1144C>T|838|NELL1|protein_coding|CODING|NM_001288713.1|11|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg297Trp/c.889C>T|753|NELL1|protein_coding|CODING|NM_001288714.1|9|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg354Trp/c.1060C>T|810|NELL1|protein_coding|CODING|NM_006157.4|10|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg354Trp/c.1060C>T|763|NELL1|protein_coding|CODING|NM_201551.2|10|1)",,,,,0.0307,0.0173,0.0547,0.04,0.01,0.05,,0.000011(D),0.998(D),"-0.18,-0.18,-0.18,-0.18(T,T,T,T)",0.0109(T),0.523,2.065168,5.18,4.26,0.561000,1.166000,1.631000,0.994000,0.998000,1.000000,13.1551
synonymous_variant,NELL1,SILENT,NM_001288713.1:p.Pro566Pro/c.1698A>G,ccA/ccG,LOW,,,,rs8176792,,,,,,chr11,21392463,21392463,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro566Pro/c.1698A>G|838|NELL1|protein_coding|CODING|NM_001288713.1|16|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro481Pro/c.1443A>G|753|NELL1|protein_coding|CODING|NM_001288714.1|14|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro538Pro/c.1614A>G|810|NELL1|protein_coding|CODING|NM_006157.4|15|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro538Pro/c.1614A>G|763|NELL1|protein_coding|CODING|NM_201551.2|15|1)",,,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,NELL1,SILENT,NM_001288713.1:p.Gly647Gly/c.1941C>T,ggC/ggT,LOW,COSM4145631(1),0.543131,0.5774,rs8176789,,,,,,chr11,21581805,21581805,C,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly647Gly/c.1941C>T|838|NELL1|protein_coding|CODING|NM_001288713.1|18|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly562Gly/c.1686C>T|753|NELL1|protein_coding|CODING|NM_001288714.1|16|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly619Gly/c.1857C>T|810|NELL1|protein_coding|CODING|NM_006157.4|17|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly572Gly/c.1716C>T|763|NELL1|protein_coding|CODING|NM_201551.2|16|1)",,,,,0.5675,0.634,0.8101,0.67,0.37,0.82,,,,,,,,,,,,,,,,
synonymous_variant,ANO5,SILENT,NM_213599.2:p.Asp89Asp/c.267T>C,gaT/gaC,LOW,COSM3998372(1),0.789936,0.5853,rs4312063,,,,,,chr11,22242729,22242729,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp88Asp/c.264T>C|912|ANO5|protein_coding|CODING|NM_001142649.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp89Asp/c.267T>C|913|ANO5|protein_coding|CODING|NM_213599.2|5|1)",,,RCV000082848.2|RCV000128783.1,,0.8241,0.732,0.7942,0.84,0.93,0.80,,,,,,,,,,,,,,,,
missense_variant,ANO5,MISSENSE,NM_213599.2:p.Leu322Phe/c.966A>T,ttA/ttT,MODERATE,COSM3998373(1),,,rs7481951,0.22(T),0.022(B),1.3(L),-0.9341(T),,chr11,22271870,22271870,A,T,hom,"missense_variant(MODERATE|MISSENSE|ttA/ttT|p.Leu321Phe/c.963A>T|912|ANO5|protein_coding|CODING|NM_001142649.1|10|1),missense_variant(MODERATE|MISSENSE|ttA/ttT|p.Leu322Phe/c.966A>T|913|ANO5|protein_coding|CODING|NM_213599.2|10|1)",,,RCV000082855.2|RCV000128791.1,,,,,0.45,0.18,0.59,,0.288911(N),1.000(P),-0.19(T),0.0000(T),0.071,1.844660,5.42,3.01,0.455000,0.317000,-0.001000,0.984000,0.999000,0.001000,5.3272
missense_variant,CCDC179,MISSENSE,NM_001195637.1:p.Arg29Gln/c.86G>A,cGg/cAg,MODERATE,,0.458866,0.6349,rs3213706,,,,,,chr11,22881002,22881002,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg29Gln/c.86G>A|68|CCDC179|protein_coding|CODING|NM_001195637.1|2|1),,,,,0.5961,0.4222,0.3598,,,,,,,,,,,,,,,,,,,
missense_variant,ANO3,MISSENSE,NM_031418.2:p.Ser55Phe/c.164C>T,tCc/tTc,MODERATE,,0.00139776,0,rs61746297,0.02(D),0.991(D),1.445(L),-0.4506(T),,chr11,26463582,26463582,C,T,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser55Phe/c.164C>T|981|ANO3|protein_coding|CODING|NM_031418.2|2|1),,,,,0.002,0,0.005,0.01,0.00,0.01,,0.000002(D),1.000(D),"-0.14,-0.14,-0.14,-0.14(T,T,T,T)",0.2811(T),0.741,3.911002,5.24,5.24,0.650000,2.831000,4.172000,0.957000,0.359000,0.995000,15.0504
synonymous_variant,ANO3,SILENT,NM_031418.2:p.Leu386Leu/c.1158A>G,ctA/ctG,LOW,,0.67512,0.8135,rs2663168,,,,,,chr11,26568966,26568966,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu386Leu/c.1158A>G|981|ANO3|protein_coding|CODING|NM_031418.2|12|1),,,,,0.6861,0.7061,0.666,0.65,0.59,0.68,,,,,,,,,,,,,,,,
missense_variant,MUC15,MISSENSE,NM_001135091.1:p.Thr229Ile/c.686C>T,aCc/aTc,MODERATE,COSM1353293(1),0.5623,0.4425,rs15783,0.03(D),"0.432,0.121,0.292(B,B,B)",1.445(L),-1.0090(T),,chr11,26586801,26586801,G,A,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr229Ile/c.686C>T|361|MUC15|protein_coding|CODING|NM_001135091.1|3|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr229Ile/c.686C>T|311|MUC15|protein_coding|CODING|NM_001135092.1|3|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr202Ile/c.605C>T|334|MUC15|protein_coding|CODING|NM_145650.3|2|1),intron_variant(MODIFIER|||c.1447+5475G>A|981|ANO3|protein_coding|CODING|NM_031418.2|14|1)",,,,,0.5593,0.7421,0.6581,0.60,0.51,0.65,,0.020570(N),1.000(P),"1.55,1.53,1.56,1.53,1.56(T,T,T,T,T)",0.0000(T),0.252,2.319766,4.2,2.12,0.650000,1.060000,1.067000,0.027000,0.020000,0.478000,4.1989
synonymous_variant,MUC15,SILENT,NM_001135091.1:p.Ser118Ser/c.354A>G,tcA/tcG,LOW,,0.667732,0.4772,rs293980,,,,,,chr11,26587133,26587133,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser118Ser/c.354A>G|361|MUC15|protein_coding|CODING|NM_001135091.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser118Ser/c.354A>G|311|MUC15|protein_coding|CODING|NM_001135092.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser91Ser/c.273A>G|334|MUC15|protein_coding|CODING|NM_145650.3|2|1),intron_variant(MODIFIER|||c.1447+5807T>C|981|ANO3|protein_coding|CODING|NM_031418.2|14|1)",,,,,0.6605,0.7954,0.7256,0.74,0.73,0.74,,,,,,,,,,,,,,,,
synonymous_variant,ANO3,SILENT,NM_031418.2:p.Phe663Phe/c.1989C>T,ttC/ttT,LOW,COSM3752307(2),0.341254,0.3552,rs7946841,,,,,,chr11,26656563,26656563,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe663Phe/c.1989C>T|981|ANO3|protein_coding|CODING|NM_031418.2|20|1),,,,,0.4673,0.2507,0.4165,0.36,0.23,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ANO3,SILENT,NM_031418.2:p.Pro894Pro/c.2682C>T,ccC/ccT,LOW,COSM3752308(1),0.558506,0.5655,rs10835051,,,,,,chr11,26677947,26677947,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro894Pro/c.2682C>T|981|ANO3|protein_coding|CODING|NM_031418.2|26|1),,,,,0.7587,0.5519,0.666,0.56,0.36,0.66,,,,,,,,,,,,,,,,
synonymous_variant,SLC5A12,SILENT,NM_178498.3:p.Arg591Arg/c.1773A>G,agA/agG,LOW,COSM3752309(2),0.318091,0.4732,rs7114378,,,,,,chr11,26692733,26692733,T,C,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg591Arg/c.1773A>G|618|SLC5A12|protein_coding|CODING|NM_178498.3|15|1),,,,,0.2761,0.2219,0.3141,0.27,0.26,0.27,,,,,,,,,,,,,,,,
synonymous_variant,SLC5A12,SILENT,NM_178498.3:p.Asn588Asn/c.1764C>T,aaC/aaT,LOW,COSM3752310(2),0.316294,0.4722,rs7128823,,,,,,chr11,26692742,26692742,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn588Asn/c.1764C>T|618|SLC5A12|protein_coding|CODING|NM_178498.3|15|1),,,,,0.2761,0.2219,0.3151,0.27,0.26,0.27,,,,,,,,,,,,,,,,
synonymous_variant,SLC5A12,SILENT,NM_178498.3:p.Cys559Cys/c.1677T>C,tgT/tgC,LOW,COSM3998379(1),0.422923,0.3502,rs4369354,,,,,,chr11,26694979,26694979,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys559Cys/c.1677T>C|618|SLC5A12|protein_coding|CODING|NM_178498.3|14|1),,,,,0.4796,0.3127,0.4881,0.48,0.44,0.50,,,,,,,,,,,,,,,,
synonymous_variant,SLC5A12,SILENT,NM_178498.3:p.Leu471Leu/c.1413G>A,ctG/ctA,LOW,,0.991214,1,rs10734383,,,,,,chr11,26702664,26702664,C,T,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu471Leu/c.1413G>A|618|SLC5A12|protein_coding|CODING|NM_178498.3|12|1),,,,,1,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC5A12,SILENT,NM_178498.3:p.Asn434Asn/c.1302T>C,aaT/aaC,LOW,,0.435104,0.3472,rs3924551,,,,,,chr11,26705310,26705310,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn434Asn/c.1302T>C|618|SLC5A12|protein_coding|CODING|NM_178498.3|11|1),,,,,0.5256,0.3689,0.6342,0.54,0.38,0.62,,,,,,,,,,,,,,,,
synonymous_variant,SLC5A12,SILENT,NM_178498.3:p.Thr128Thr/c.384G>A,acG/acA,LOW,,0.770367,0.8631,rs10742156,,,,,,chr11,26734209,26734209,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr128Thr/c.384G>A|618|SLC5A12|protein_coding|CODING|NM_178498.3|2|1),,,,,0.8978,0.8963,0.9592,0.80,0.48,0.96,,,,,,,,,,,,,,,,
synonymous_variant,BBOX1,SILENT,NM_003986.2:p.Ser47Ser/c.141C>T,tcC/tcT,LOW,,1,1,rs10767598,,,,,,chr11,27077118,27077118,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser47Ser/c.141C>T|387|BBOX1|protein_coding|CODING|NM_003986.2|3|1),,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CCDC34,MISSENSE,NM_030771.1:p.Glu264Ala/c.791A>C,gAa/gCa,MODERATE,COSM3752312(1),0.161342,0.0734,rs17244028,0.1(T),0.86(P),1.56(L),-0.9311(T),,chr11,27362359,27362359,T,G,hom,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu264Ala/c.791A>C|373|CCDC34|protein_coding|CODING|NM_030771.1|5|1),HepG2:H3K36me3,,,,0.138,0.2637,0.34,0.27,0.11,0.35,,0.000022(D),0.000(P),1.81(T),0.0000(T),0.216,2.367807,5.92,5.92,0.533000,2.266000,3.873000,0.996000,1.000000,1.000000,11.2236
synonymous_variant,LGR4,SILENT,NM_018490.2:p.Lys727Lys/c.2181A>G,aaA/aaG,LOW,,1,1,rs2447997,,,,,,chr11,27390089,27390089,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys727Lys/c.2181A>G|951|LGR4|protein_coding|CODING|NM_018490.2|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,BDNF,SILENT,NM_001143810.1:p.Ala232Ala/c.696A>G,gcA/gcG,LOW,,0.995208,1,rs2353512,,,,,,chr11,27679662,27679662,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143805.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143806.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143807.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143808.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala179Ala/c.537A>G|276|BDNF|protein_coding|CODING|NM_001143809.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala232Ala/c.696A>G|329|BDNF|protein_coding|CODING|NM_001143810.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143811.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143812.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143813.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143814.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001143816.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_001709.4|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala158Ala/c.474A>G|255|BDNF|protein_coding|CODING|NM_170731.4|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_170732.4|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_170733.3|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala165Ala/c.495A>G|262|BDNF|protein_coding|CODING|NM_170734.3|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|247|BDNF|protein_coding|CODING|NM_170735.5|1|1),intron_variant(MODIFIER|||n.375-126T>C||BDNF-AS||NON_CODING|NR_002832.2|4|1),intron_variant(MODIFIER|||n.306-126T>C||BDNF-AS||NON_CODING|NR_033312.1|3|1),intron_variant(MODIFIER|||n.306-126T>C||BDNF-AS||NON_CODING|NR_033313.1|3|1),intron_variant(MODIFIER|||n.375-126T>C||BDNF-AS||NON_CODING|NR_033314.1|4|1),intron_variant(MODIFIER|||n.306-126T>C||BDNF-AS||NON_CODING|NR_033315.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FSHB,SILENT,NM_000510.2:p.Tyr76Tyr/c.228C>T,taC/taT,LOW,COSM3998384(1),0.614816,0.6696,rs386601843,,,,,,chr11,30255185,30255185,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr76Tyr/c.228C>T|129|FSHB|protein_coding|CODING|NM_000510.2|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr76Tyr/c.228C>T|129|FSHB|protein_coding|CODING|NM_001018080.1|3|1)",,,,,0.5941,0.5317,0.4503,0.53,0.71,0.44,,,,,,,,,,,,,,,,
synonymous_variant,DCDC1,SILENT,NM_181807.3:p.Glu200Glu/c.600G>A,gaG/gaA,LOW,,0.679712,0.3839,rs2616815,,,,,,chr11,31327316,31327316,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu200Glu/c.600G>A|354|DCDC1|protein_coding|CODING|NM_181807.3|6|1),,,,,0.6278,0.7032,0.674,0.74,0.90,0.65,,,,,,,,,,,,,,,,
synonymous_variant,RCN1,SILENT,NM_002901.2:p.His280His/c.840T>C,caT/caC,LOW,,0.479034,0.6776,rs4876,,,,,,chr11,32124978,32124978,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His280His/c.840T>C|331|RCN1|protein_coding|CODING|NM_002901.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:Cmyc,CD4:H3K36me3,HepG2:FOXA2,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:FOXA1,HUVEC:H3K27ac,HepG2:DNase1,GM06990:H3K36me3",,,,0.5992,0.464,0.501,0.43,0.26,0.52,,,,,,,,,,,,,,,,
synonymous_variant,RCN1,SILENT,NM_002901.2:p.Val313Val/c.939C>T,gtC/gtT,LOW,,0.504593,0.6776,rs11529889,,,,,,chr11,32125961,32125961,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val313Val/c.939C>T|331|RCN1|protein_coding|CODING|NM_002901.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6002,0.4683,0.505,0.44,0.32,0.51,,,,,,,,,,,,,,,,
synonymous_variant,WT1,SILENT,NM_024426.4:p.Pro110Pro/c.330C>T,ccC/ccT,LOW,,0.303914,0.6855,rs1799925,,,,,,chr11,32456562,32456562,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro110Pro/c.330C>T|497|WT1|protein_coding|CODING|NM_000378.4|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro110Pro/c.330C>T|514|WT1|protein_coding|CODING|NM_024424.3|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro110Pro/c.330C>T|517|WT1|protein_coding|CODING|NM_024426.4|1|1),upstream_gene_variant(MODIFIER||502|||WT1-AS||NON_CODING|NR_023920.2||1),upstream_gene_variant(MODIFIER||502|||WT1-AS||NON_CODING|NR_120547.1||1),upstream_gene_variant(MODIFIER||502|||WT1-AS||NON_CODING|NR_120548.1||1),upstream_gene_variant(MODIFIER||502|||WT1-AS||NON_CODING|NR_120549.1||1),upstream_gene_variant(MODIFIER||1023|||WT1-AS||NON_CODING|NR_120546.1||1)","K562:H3K4me3,K562:PolII,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.3763,0.3199,0.169,,,,,,,,,,,,,,,,,,,
synonymous_variant,CCDC73,SILENT,NM_001008391.3:p.Thr387Thr/c.1161A>G,acA/acG,LOW,COSM147172(2),0.633786,0.2302,rs201854,,,,-1.0130(T),,chr11,32657266,32657266,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr387Thr/c.1161A>G|1079|CCDC73|protein_coding|CODING|NM_001008391.3|14|1),HUVEC:H3K27me3,,,,0.7106,0.6282,0.7594,0.74,0.76,0.74,,,1.000(P),,0.0000(T),.,-1.551487,5.31,-0.241,-3.529000,-0.407000,-0.325000,0.039000,0.116000,0.010000,4.653
synonymous_variant,PRRG4,SILENT,NM_024081.5:p.Pro178Pro/c.534G>A,ccG/ccA,LOW,COSM1353552(1),0.405351,0.4127,rs11032025,,,,,,chr11,32874926,32874926,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro178Pro/c.534G>A|226|PRRG4|protein_coding|CODING|NM_024081.5|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.4284,0.4841,0.3986,0.38,0.37,0.38,,,,,,,,,,,,,,,,
missense_variant,QSER1,MISSENSE,NM_001076786.2:p.Val385Ile/c.1153G>A,Gta/Ata,MODERATE,,0.971246,1,rs1022586,1(T),0.0(B),-0.345(N),-0.9601(T),,chr11,32954344,32954344,G,A,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val385Ile/c.1153G>A|1735|QSER1|protein_coding|CODING|NM_001076786.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.91,1.00,,0.024120(N),1.000(P),1.06(T),0.0000(T),0.032,-0.640328,4.57,-5.6,-0.332000,-1.598000,-0.032000,0.972000,0.535000,0.516000,10.0082
missense_variant,QSER1,MISSENSE,NM_001076786.2:p.Gln644Arg/c.1931A>G,cAa/cGa,MODERATE,COSM147173(2),0.0788738,0.0595,rs2297781,0.01(D),"0.986,0.623,0.419(D,P,B)",1.04(L),-1.0306(T),,chr11,32955122,32955122,A,G,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln644Arg/c.1931A>G|1735|QSER1|protein_coding|CODING|NM_001076786.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1237,0.0778,0.0577,0.07,0.07,0.06,,0.000411(D),0.008(P),"2.2,1.88(T,T)",0.0101(T),0.347,2.317458,5.01,3.83,0.482000,0.815000,5.632000,0.710000,0.981000,1.000000,11.8284
missense_variant,QSER1,MISSENSE,NM_001076786.2:p.Pro965Arg/c.2894C>G,cCa/cGa,MODERATE,,,,,0.48(T),"0.483,0.206,0.102(P,B,B)",1.59(L),-1.0830(T),,chr11,32956085,32956085,C,G,het,missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro965Arg/c.2894C>G|1735|QSER1|protein_coding|CODING|NM_001076786.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.398805(N),0.999(N),"2.32,2.0(T,T)",0.0542(T),0.229,1.525729,4.97,4.04,0.561000,1.380000,1.756000,0.943000,0.935000,0.825000,10.5855
missense_variant,QSER1,MISSENSE,NM_001076786.2:p.Asn1018Ser/c.3053A>G,aAt/aGt,MODERATE,,0.971845,1,rs7940077,,,-0.835(N),-0.9541(T),,chr11,32956244,32956244,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn1018Ser/c.3053A>G|1735|QSER1|protein_coding|CODING|NM_001076786.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.91,1.00,,,1.000(P),,0.0000(T),.,-1.975152,5.83,4.92,-0.119000,0.826000,2.816000,0.440000,0.998000,1.000000,6.5843
synonymous_variant,QSER1,SILENT,NM_001076786.2:p.Pro1143Pro/c.3429A>G,ccA/ccG,LOW,,0.797923,0.995,rs7481878,,,,-1.0073(T),,chr11,32956620,32956620,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1143Pro/c.3429A>G|1735|QSER1|protein_coding|CODING|NM_001076786.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8824,0.8458,0.8082,0.75,0.59,0.82,,,0.000(P),,0.0000(T),.,0.127842,5.58,3.08,0.460000,0.919000,2.018000,0.913000,1.000000,1.000000,6.6491
synonymous_variant,TCP11L1,SILENT,NM_001145541.1:p.Gly72Gly/c.216T>C,ggT/ggC,LOW,,0.717053,0.881,rs2273544,,,,,,chr11,33076191,33076191,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly72Gly/c.216T>C|509|TCP11L1|protein_coding|CODING|NM_001145541.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly72Gly/c.216T>C|509|TCP11L1|protein_coding|CODING|NM_018393.3|3|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.67,0.7356,0.71,0.67,0.73,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1549L,SILENT,NM_012194.2:p.Gly41Gly/c.123T>C,ggT/ggC,LOW,COSM3998392(2),0.696885,0.6617,rs2076623,,,,,,chr11,33564123,33564123,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly41Gly/c.123T>C|1849|KIAA1549L|protein_coding|CODING|NM_012194.2|1|1),"NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6155,0.6095,0.6153,0.71,0.86,0.64,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1549L,SILENT,NM_012194.2:p.Thr992Thr/c.2976G>A,acG/acA,LOW,COSM3931301(1),0.388978,0.3264,rs2281380,,,,-0.9311(T),,chr11,33581306,33581306,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr992Thr/c.2976G>A|1849|KIAA1549L|protein_coding|CODING|NM_012194.2|6|1),"NH-A:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3937,0.3213,0.3887,0.41,0.46,0.39,,,0.000(P),,0.0000(T),.,0.663994,5.42,-5.21,0.573000,-0.823000,-0.872000,0.712000,0.951000,0.018000,5.8334
synonymous_variant,KIAA1549L,SILENT,NM_012194.2:p.Lys1433Lys/c.4299G>A,aaG/aaA,LOW,COSM3752338(1),0.451677,0.3839,rs2076622,,,,-1.0527(T),,chr11,33631423,33631423,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1433Lys/c.4299G>A|1849|KIAA1549L|protein_coding|CODING|NM_012194.2|14|1),"NH-A:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.4918,0.3818,0.3857,0.43,0.53,0.39,,,0.002(P),,0.0000(T),.,-1.234862,5.54,-6.56,-0.972000,-1.233000,-0.097000,0.003000,0.126000,0.507000,13.6844
synonymous_variant,KIAA1549L,SILENT,NM_012194.2:p.Arg1472Arg/c.4414A>C,Aga/Cga,LOW,COSM3998394(1),0.745607,0.747,rs768474,,,,,,chr11,33640104,33640104,A,C,het,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg1472Arg/c.4414A>C|1849|KIAA1549L|protein_coding|CODING|NM_012194.2|15|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6288,0.6441,0.6292,0.73,0.92,0.65,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1549L,SILENT,NM_012194.2:p.Thr1540Thr/c.4620A>G,acA/acG,LOW,COSM3721006(2),0.707668,0.7232,rs1033543,,,,,,chr11,33667333,33667333,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1540Thr/c.4620A>G|1849|KIAA1549L|protein_coding|CODING|NM_012194.2|16|1),"GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5624,0.6066,0.6004,0.71,0.88,0.63,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1549L,SILENT,NM_012194.2:p.Ser1681Ser/c.5043C>T,agC/agT,LOW,COSM3752339(1),0.296326,0.3343,rs12280103,,,,,,chr11,33680371,33680371,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser1681Ser/c.5043C>T|1849|KIAA1549L|protein_coding|CODING|NM_012194.2|18|1),"K562:CTCF,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.3701,0.2824,0.2654,0.25,0.23,0.26,,,,,,,,,,,,,,,,
missense_variant,C11orf91,MISSENSE,NM_001166692.1:p.Ala68Glu/c.203C>A,gCg/gAg,MODERATE,COSM4145664(3),0.244609,0.0952,rs149234067,0.33(T),,0.345(N),-0.9879(T),,chr11,33722084,33722084,G,T,het,missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala68Glu/c.203C>A|193|C11orf91|protein_coding|CODING|NM_001166692.1|1|1),"K562:H3K4me3,HeLa-S3:DNase1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.2035,0.2046,0.331,,,,,0.320870(U),1.000(P),,0.0000(T),0.163,0.267984,3.11,1.06,0.373000,0.310000,0.097000,0.161000,0.102000,0.006000,8.9477
synonymous_variant,LMO2,SILENT,NM_005574.3:p.Lys190Lys/c.570A>G,aaA/aaG,LOW,COSM147176(1),0.5625,0.4921,rs3740617,,,,,,chr11,33881016,33881016,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys121Lys/c.363A>G|158|LMO2|protein_coding|CODING|NM_001142315.1|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys121Lys/c.363A>G|158|LMO2|protein_coding|CODING|NM_001142316.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys190Lys/c.570A>G|227|LMO2|protein_coding|CODING|NM_005574.3|6|1)","HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6104,0.7291,0.5954,0.57,0.51,0.61,,,,,,,,,,,,,,,,
synonymous_variant,LMO2,SILENT,NM_005574.3:p.Ile106Ile/c.318T>C,atT/atC,LOW,COSM3752342(3),0.434305,0.4067,rs2038602,,,,,,chr11,33886294,33886294,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile37Ile/c.111T>C|158|LMO2|protein_coding|CODING|NM_001142315.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile37Ile/c.111T>C|158|LMO2|protein_coding|CODING|NM_001142316.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile106Ile/c.318T>C|227|LMO2|protein_coding|CODING|NM_005574.3|5|1)","HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3824,0.2839,0.4185,0.46,0.56,0.41,,,,,,,,,,,,,,,,
missense_variant,NAT10,MISSENSE,NM_024662.2:p.Tyr461His/c.1381T>C,Tat/Cat,MODERATE,,0.997804,1,rs2957516,0.49(T),0.0(B),-1.715(N),-0.9448(T),,chr11,34152939,34152939,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr389His/c.1165T>C|953|NAT10|protein_coding|CODING|NM_001144030.1|12|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr461His/c.1381T>C|1025|NAT10|protein_coding|CODING|NM_024662.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.000000(N),0.000(P),"1.03,1.03(T,T)",0.0000(T),0.262,1.523834,5.76,5.76,-0.119000,1.593000,6.058000,0.165000,0.888000,1.000000,15.3803
synonymous_variant,NAT10,SILENT,NM_024662.2:p.Pro562Pro/c.1686C>T,ccC/ccT,LOW,,0.860423,1,rs2957518,,,,,,chr11,34154641,34154641,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro490Pro/c.1470C>T|953|NAT10|protein_coding|CODING|NM_001144030.1|14|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro562Pro/c.1686C>T|1025|NAT10|protein_coding|CODING|NM_024662.2|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9407,0.9553,0.9592,0.85,0.64,0.96,,,,,,,,,,,,,,,,
synonymous_variant,ABTB2,SILENT,NM_145804.2:p.Ala934Ala/c.2802C>T,gcC/gcT,LOW,,,,,,,,,,chr11,34175890,34175890,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala934Ala/c.2802C>T|1025|ABTB2|protein_coding|CODING|NM_145804.2|16|1),"H1ESC:H3K36me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:EBF,GM12878:PolII,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,GM12878:Tcf12",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CAT,SILENT,NM_001752.3:p.Asp389Asp/c.1167C>T,gaC/gaT,LOW,,0.26278,0.5,rs769217,,,,,,chr11,34482908,34482908,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp389Asp/c.1167C>T|527|CAT|protein_coding|CODING|NM_001752.3|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2117,0.2896,0.2147,0.21,0.17,0.23,,,,,,,,,,,,,,,,
synonymous_variant,ELF5,SILENT,NM_198381.1:p.Thr225Thr/c.675A>G,acA/acG,LOW,,0.191893,0.0288,rs2231828,,,,,,chr11,34502345,34502345,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr120Thr/c.360A>G|160|ELF5|protein_coding|CODING|NM_001243080.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr147Thr/c.441A>G|187|ELF5|protein_coding|CODING|NM_001243081.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr215Thr/c.645A>G|255|ELF5|protein_coding|CODING|NM_001422.3|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr225Thr/c.675A>G|265|ELF5|protein_coding|CODING|NM_198381.1|6|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.3231,0.2334,0.4076,0.30,0.09,0.41,,,,,,,,,,,,,,,,
synonymous_variant,EHF,SILENT,NM_001206616.1:p.Leu107Leu/c.321C>T,ctC/ctT,LOW,,0.23123,0.38,rs2281910,,,,,,chr11,34668143,34668143,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu85Leu/c.255C>T|277|EHF|protein_coding|CODING|NM_001206615.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu107Leu/c.321C>T|322|EHF|protein_coding|CODING|NM_001206616.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu85Leu/c.255C>T|300|EHF|protein_coding|CODING|NM_012153.5|3|1)","GM12878:H3K27me3,NHEK:H3K36me3",,,,0.1534,0.3213,0.1948,0.19,0.16,0.20,,,,,,,,,,,,,,,,
synonymous_variant,APIP,SILENT,NM_015957.3:p.Thr125Thr/c.375A>C,acA/acC,LOW,COSM4145670(2),0.579473,0.7371,rs1571133,,,,,,chr11,34909926,34909926,T,G,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr125Thr/c.375A>C|242|APIP|protein_coding|CODING|NM_015957.3|5|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.6227,0.5692,0.6839,0.60,0.41,0.69,,,,,,,,,,,,,,,,
missense_variant,APIP,MISSENSE,NM_015957.3:p.Cys76Tyr/c.227G>A,tGt/tAt,MODERATE,COSM3931304(1),0.457468,0.7371,rs1977420,0.31(T),"0.036,0.021(B,B)",1.085(L),-0.9654(T),,chr11,34910397,34910397,C,T,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys76Tyr/c.227G>A|242|APIP|protein_coding|CODING|NM_015957.3|4|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.5174,0.4035,0.3559,0.34,0.31,0.36,,0.000000(D),0.000(P),"2.03,2.03(T,T)",0.0000(T),0.595,2.895387,5.85,5.85,0.561000,2.771000,4.655000,0.997000,1.000000,1.000000,20.1775
missense_variant,APIP,MISSENSE,NM_015957.3:p.Arg7Trp/c.19C>T,Cgg/Tgg,MODERATE,COSM4145673(2),0.434704,0.7371,rs2956114,0.05(D),0.075(B),0(N),-0.9444(T),,chr11,34937813,34937813,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg7Trp/c.19C>T|242|APIP|protein_coding|CODING|NM_015957.3|1|1),5_prime_UTR_variant(MODIFIER||106|c.-106G>A|486|PDHX|protein_coding|CODING|NM_001135024.1|1|1),5_prime_UTR_variant(MODIFIER||390|c.-390G>A|274|PDHX|protein_coding|CODING|NM_001166158.1|1|1),5_prime_UTR_variant(MODIFIER||390|c.-390G>A|501|PDHX|protein_coding|CODING|NM_003477.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.5174,0.3977,0.3539,0.32,0.24,0.35,,0.384034(N),0.989(P),2.19(T),0.0000(T),0.048,2.476444,4.48,2.5,0.491000,0.561000,0.295000,0.005000,0.032000,0.138000,10.8523
missense_variant,PDHX,MISSENSE,NM_001135024.1:p.Gly5Ser/c.13G>A,Ggc/Agc,MODERATE,COSM3749157(7),0.457268,0.7371,rs2956111,0.44(T),0.002(B),0(N),-1.0004(T),,chr11,34937931,34937931,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly5Ser/c.13G>A|486|PDHX|protein_coding|CODING|NM_001135024.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||242|APIP|protein_coding|CODING|NM_015957.3|1|1),5_prime_UTR_variant(MODIFIER||272|c.-272G>A|274|PDHX|protein_coding|CODING|NM_001166158.1|1|1),5_prime_UTR_variant(MODIFIER||272|c.-272G>A|501|PDHX|protein_coding|CODING|NM_003477.2|1|1),5_prime_UTR_variant(MODIFIER||100|c.-100C>T|242|APIP|protein_coding|CODING|NM_015957.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.5164,0.4035,0.3559,,,,,,0.002(P),2.61(T),0.0000(T),0.193,3.089477,4.12,-2.42,-1.080000,-0.465000,0.048000,0.116000,0.011000,0.057000,1.0517
synonymous_variant,PDHX,SILENT,NM_003477.2:p.Pro21Pro/c.63C>T,ccC/ccT,LOW,,0.764577,0.8244,rs2956109,,,,,,chr11,34938265,34938265,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|274|PDHX|protein_coding|CODING|NM_001166158.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro21Pro/c.63C>T|501|PDHX|protein_coding|CODING|NM_003477.2|1|1),upstream_gene_variant(MODIFIER||307||242|APIP|protein_coding|CODING|NM_015957.3||1),intron_variant(MODIFIER|||c.115+232C>T|486|PDHX|protein_coding|CODING|NM_001135024.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.7301,0.6715,0.8012,0.80,0.79,0.80,,,,,,,,,,,,,,,,
synonymous_variant,PDHX,SILENT,NM_003477.2:p.Val286Val/c.858T>C,gtT/gtC,LOW,COSM4145675(2),0.570487,0.7421,rs386596900,,,,,,chr11,34991727,34991727,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val271Val/c.813T>C|486|PDHX|protein_coding|CODING|NM_001135024.1|7|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val286Val/c.858T>C|501|PDHX|protein_coding|CODING|NM_003477.2|7|1),intron_variant(MODIFIER|||c.343-14390T>C|274|PDHX|protein_coding|CODING|NM_001166158.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6074,0.5562,0.7058,0.60,0.39,0.70,,,,,,,,,,,,,,,,
synonymous_variant,CD44,SILENT,NM_000610.3:p.Thr325Thr/c.975C>T,acC/acT,LOW,,0.0273562,0,rs35356320,,,,-1.0224(T),,chr11,35222681,35222681,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr325Thr/c.975C>T|742|CD44|protein_coding|CODING|NM_000610.3|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr282Thr/c.846C>T|699|CD44|protein_coding|CODING|NM_001001389.1|7|1),intron_variant(MODIFIER|||c.234-20571C>T|139|CD44|protein_coding|CODING|NM_001001392.1|2|1),intron_variant(MODIFIER|||c.668-6971C>T|493|CD44|protein_coding|CODING|NM_001001390.1|5|1),intron_variant(MODIFIER|||c.668-10112C>T|429|CD44|protein_coding|CODING|NM_001202555.1|5|1),intron_variant(MODIFIER|||c.667+11069C>T|361|CD44|protein_coding|CODING|NM_001001391.1|5|1),intron_variant(MODIFIER|||c.667+11069C>T|294|CD44|protein_coding|CODING|NM_001202557.1|5|1),intron_variant(MODIFIER|||c.667+11069C>T|340|CD44|protein_coding|CODING|NM_001202556.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0123,0.049,0.0686,0.05,0.02,0.06,,,1.000(N),,0.0031(T),.,-0.043357,5.49,-5.96,0.655000,-0.939000,-2.207000,0.569000,0.000000,0.000000,4.4764
missense_variant,CD44,MISSENSE,NM_000610.3:p.Lys417Arg/c.1250A>G,aAa/aGa,MODERATE,,0.830272,0.9306,rs9666607,0.57(T),"0.002,0.001(B,B)",1.1(L),-1.0101(T),,chr11,35226155,35226155,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys417Arg/c.1250A>G|742|CD44|protein_coding|CODING|NM_000610.3|10|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys374Arg/c.1121A>G|699|CD44|protein_coding|CODING|NM_001001389.1|9|1),intron_variant(MODIFIER|||c.234-17097A>G|139|CD44|protein_coding|CODING|NM_001001392.1|2|1),intron_variant(MODIFIER|||c.668-3497A>G|493|CD44|protein_coding|CODING|NM_001001390.1|5|1),intron_variant(MODIFIER|||c.668-6638A>G|429|CD44|protein_coding|CODING|NM_001202555.1|5|1),intron_variant(MODIFIER|||c.668-10244A>G|361|CD44|protein_coding|CODING|NM_001001391.1|5|1),intron_variant(MODIFIER|||c.668-10244A>G|294|CD44|protein_coding|CODING|NM_001202557.1|5|1),intron_variant(MODIFIER|||c.667+14543A>G|340|CD44|protein_coding|CODING|NM_001202556.1|5|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8558,0.6859,0.6839,0.75,0.87,0.69,,0.624063(N),0.000(P),"2.3,2.3,2.3,2.3,2.3,2.3(T,T,T,T,T,T)",0.0000(T),0.203,-0.571126,5.15,1.86,-0.733000,0.019000,0.453000,0.005000,0.701000,0.125000,7.2875
missense_variant,CD44,MISSENSE,NM_000610.3:p.Ile479Thr/c.1436T>C,aTa/aCa,MODERATE,,0.939097,0.999,rs1467558,0.65(T),"0.0,0.0,0.0(B,B,B)",-2.125(N),-0.9476(T),,chr11,35229673,35229673,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile479Thr/c.1436T>C|742|CD44|protein_coding|CODING|NM_000610.3|12|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile436Thr/c.1307T>C|699|CD44|protein_coding|CODING|NM_001001389.1|11|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile230Thr/c.689T>C|493|CD44|protein_coding|CODING|NM_001001390.1|6|1),intron_variant(MODIFIER|||c.234-13579T>C|139|CD44|protein_coding|CODING|NM_001001392.1|2|1),intron_variant(MODIFIER|||c.668-3120T>C|429|CD44|protein_coding|CODING|NM_001202555.1|5|1),intron_variant(MODIFIER|||c.668-6726T>C|361|CD44|protein_coding|CODING|NM_001001391.1|5|1),intron_variant(MODIFIER|||c.668-6726T>C|294|CD44|protein_coding|CODING|NM_001202557.1|5|1),intron_variant(MODIFIER|||c.668-11190T>C|340|CD44|protein_coding|CODING|NM_001202556.1|5|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.9652,0.8919,0.8141,0.86,0.96,0.81,,0.004150(N),0.000(P),"1.6,1.6,1.6,1.6,3.03,1.6,2.5,1.6,2.5,1.6,1.6(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.312,-1.175163,6.16,6.16,-0.128000,1.638000,2.089000,0.012000,0.601000,0.889000,11.8073
synonymous_variant,SLC1A2,SILENT,NM_004171.3:p.Val407Val/c.1221A>G,gtA/gtG,LOW,COSM3752347(3),0.230431,0.1885,rs1042113,,,,,,chr11,35308369,35308369,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val398Val/c.1194A>G|565|SLC1A2|protein_coding|CODING|NM_001195728.2|9|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val398Val/c.1194A>G|565|SLC1A2|protein_coding|CODING|NM_001252652.1|9|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val407Val/c.1221A>G|574|SLC1A2|protein_coding|CODING|NM_004171.3|8|1)",HepG2:H3K36me3,,,,0.0961,0.2536,0.2624,0.25,0.28,0.24,,,0.000(P),,,.,0.720014,5.62,2.66,-0.215000,0.106000,0.411000,0.618000,0.988000,0.993000,9.6278
splice_donor_variant,SLC1A2,protein_coding,NM_001195728.2:c.1G>A,,HIGH,,0.0299521,0,rs56205617,,,,,SLC1A2:0.33(3);,chr11,35344107,35344107,C,T,het,"splice_donor_variant(HIGH|||c.1G>A|565|SLC1A2|protein_coding|CODING|NM_001195728.2|2|1),intron_variant(MODIFIER|||c.-11+1G>A|565|SLC1A2|protein_coding|CODING|NM_001195728.2|2|1),intron_variant(MODIFIER|||c.-10-5044G>A|565|SLC1A2|protein_coding|CODING|NM_001252652.1|2|1),intron_variant(MODIFIER|||c.18-5044G>A|574|SLC1A2|protein_coding|CODING|NM_004171.3|1|1)","CD4:H3K18ac,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.0164,0.0231,0.0338,,,,,,,,,,,,,,,,,,,
missense_variant,TRIM44,MISSENSE,NM_017583.4:p.Lys314Arg/c.941A>G,aAg/aGg,MODERATE,,0.00259585,0,rs61758104,0.19(T),0.019(B),0(N),-1.0739(T),,chr11,35747665,35747665,A,G,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys314Arg/c.941A>G|344|TRIM44|protein_coding|CODING|NM_017583.4|3|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Jund,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,K562:Cjun,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.002,0.0014,0.0099,0.01,0.00,0.01,,0.001277(N),0.999(N),1.42(T),0.0235(T),0.045,2.304927,5.24,3.9,0.533000,1.985000,1.024000,0.993000,1.000000,1.000000,5.3921
synonymous_variant,LDLRAD3,SILENT,NM_174902.2:p.Pro73Pro/c.219A>G,ccA/ccG,LOW,COSM3752351(1),0.341054,0.3522,rs1138807,,,,,,chr11,36103228,36103228,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro73Pro/c.219A>G|345|LDLRAD3|protein_coding|CODING|NM_174902.2|3|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2198,0.402,0.3151,0.35,0.39,0.34,,,,,,,,,,,,,,,,
missense_variant,PRR5L,MISSENSE,NM_001160167.1:p.Ala41Thr/c.121G>A,Gct/Act,MODERATE,,0.833666,0.9673,rs330261,0.23(T),"0.001,0.002(B,B)",0.695(N),-0.9552(T),,chr11,36422792,36422792,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala41Thr/c.121G>A|368|PRR5L|protein_coding|CODING|NM_001160167.1|2|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala41Thr/c.121G>A|205|PRR5L|protein_coding|CODING|NM_001160169.1|1|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala41Thr/c.121G>A|368|PRR5L|protein_coding|CODING|NM_024841.4|3|1),intron_variant(MODIFIER|||c.3-18013G>A|240|PRR5L|protein_coding|CODING|NM_001160168.1|1|1)","NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8896,0.9308,0.9125,0.82,0.64,0.91,,0.057467(N),1.000(P),"1.45,1.45,1.45,1.45,1.58,1.45,1.45,1.45,1.45,1.45,1.45,1.45(T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.195,-0.001590,5.24,-3.34,-0.972000,-1.622000,-0.218000,0.104000,0.001000,0.000000,16.5274
synonymous_variant,PRR5L,SILENT,NM_001160167.1:p.Thr343Thr/c.1029T>C,acT/acC,LOW,COSM4145679(1),0.994808,1,rs514352,,,,,,chr11,36484208,36484208,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr343Thr/c.1029T>C|368|PRR5L|protein_coding|CODING|NM_001160167.1|9|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr215Thr/c.645T>C|240|PRR5L|protein_coding|CODING|NM_001160168.1|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr343Thr/c.1029T>C|368|PRR5L|protein_coding|CODING|NM_024841.4|10|1),3_prime_UTR_variant(MODIFIER||284|c.*284T>C|205|PRR5L|protein_coding|CODING|NM_001160169.1|7|1)","H1ESC:H3K36me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,RAG1,MISSENSE,NM_000448.2:p.His249Arg/c.746A>G,cAc/cGc,MODERATE,,0.613419,0.756,rs3740955,0.08(T),0.0(B),0.11(N),-0.9228(T),,chr11,36595600,36595600,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His249Arg/c.746A>G|1043|RAG1|protein_coding|CODING|NM_000448.2|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5153,0.6052,0.3648,0.47,0.73,0.34,,0.234553(N),1.000(P),"1.23,1.23(T,T)",0.0000(T),0.068,-1.055818,5.6,-1.98,-0.738000,-0.541000,0.169000,0.057000,0.000000,0.004000,10.2304
synonymous_variant,LRRC4C,SILENT,NM_001258419.1:p.Arg100Arg/c.300A>G,agA/agG,LOW,COSM147178(2),0.499401,0.6052,rs2953310,,,,,,chr11,40137543,40137543,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg100Arg/c.300A>G|640|LRRC4C|protein_coding|CODING|NM_001258419.1|7|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg100Arg/c.300A>G|640|LRRC4C|protein_coding|CODING|NM_020929.2|5|1),non_coding_exon_variant(MODIFIER|||n.1333A>G||LRRC4C||CODING|NR_047673.1|3|1),non_coding_exon_variant(MODIFIER|||n.1280A>G||LRRC4C||CODING|NR_047674.1|2|1)",H1ESC:H3K36me3,,,,0.2413,0.5058,0.3728,0.50,0.66,0.41,,,,,,,,,,,,,,,,
missense_variant,HSD17B12,MISSENSE,NM_016142.2:p.Ser280Leu/c.839C>T,tCg/tTg,MODERATE,COSM3752362(3),0.359026,0.256,rs11555762,0.72(T),0.001(B),0.63(N),-0.9656(T),,chr11,43876698,43876698,C,T,het,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser280Leu/c.839C>T|312|HSD17B12|protein_coding|CODING|NM_016142.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.464,0.3211,0.35,0.42,0.31,,0.087729(N),1.000(P),0.89(T),0.0000(T),0.136,-0.292759,5.63,0.382,-2.389000,-0.122000,0.692000,0.000000,0.000000,0.000000,7.7993
synonymous_variant,ALKBH3,SILENT,NM_139178.3:p.Thr119Thr/c.357T>C,acT/acC,LOW,,0.997604,1,rs2434478,,,,,,chr11,43911365,43911365,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr119Thr/c.357T>C|286|ALKBH3|protein_coding|CODING|NM_139178.3|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ALKBH3,SILENT,NM_139178.3:p.Gly242Gly/c.726G>T,ggG/ggT,LOW,,0.616214,0.8373,rs1048928,,,,-1.0491(T),,chr11,43940644,43940644,G,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly242Gly/c.726G>T|286|ALKBH3|protein_coding|CODING|NM_139178.3|9|1),intron_variant(MODIFIER|||n.227+492C>A||ALKBH3-AS1||NON_CODING|NR_038907.1|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7863,0.6542,0.6243,0.54,0.36,0.62,,,0.000(P),,0.0000(T),.,1.218599,5.91,2.83,0.655000,0.837000,0.148000,0.995000,1.000000,0.997000,7.4352
missense_variant,ACCSL,MISSENSE,NM_001031854.2:p.Cys529Arg/c.1585T>C,Tgc/Cgc,MODERATE,,0.794329,0.8433,rs2074051,1(T),0.0(B),-3.295(N),-0.9733(T),,chr11,44080210,44080210,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys529Arg/c.1585T>C|568|ACCSL|protein_coding|CODING|NM_001031854.2|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7658,0.5893,0.7803,0.79,0.86,0.76,,0.000002(N),0.141(P),3.87(T),0.0000(T),0.129,-2.430994,5.5,1.53,-2.084000,0.086000,0.123000,0.052000,0.317000,0.981000,13.578
synonymous_variant,ALX4,SILENT,NM_021926.3:p.His358His/c.1074C>T,caC/caT,LOW,COSM1178421(2),0.358427,0.5258,rs3802805,,,,,,chr11,44286566,44286566,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His358His/c.1074C>T|411|ALX4|protein_coding|CODING|NM_021926.3|4|1),"K562:USF1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4121,0.5202,0.334,0.27,0.17,0.33,,,,,,,,,,,,,,,,
synonymous_variant,ALX4,SILENT,NM_021926.3:p.Ser207Ser/c.621A>G,tcA/tcG,LOW,COSM4145711(1),0.991613,0.999,rs10769028,,,,,,chr11,44297054,44297054,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser207Ser/c.621A>G|411|ALX4|protein_coding|CODING|NM_021926.3|2|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,CD82,MISSENSE,NM_002231.3:p.Ile241Val/c.721A>G,Atc/Gtc,MODERATE,COSM3752367(3),0.587061,0.502,rs1139971,0.49(T),"0.057,0.024(B,B)",1.145(L),-0.9198(T),,chr11,44640268,44640268,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile216Val/c.646A>G|242|CD82|protein_coding|CODING|NM_001024844.1|8|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile241Val/c.721A>G|267|CD82|protein_coding|CODING|NM_002231.3|9|1)","GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8405,0.6311,0.6571,0.59,0.42,0.67,,0.094998(N),0.000(P),"-1.35,-1.35(T,T)",0.0000(T),0.055,0.366980,4.32,0.664,0.260000,-0.153000,0.750000,0.044000,0.691000,0.958000,6.1582
missense_variant,TSPAN18,MISSENSE,NM_130783.4:p.Val133Ile/c.397G>A,Gtc/Atc,MODERATE,COSM3764303(1),0.347045,0.5575,rs2291334,,,1.175(L),-0.9314(T),,chr11,44940828,44940828,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val133Ile/c.397G>A|248|TSPAN18|protein_coding|CODING|NM_130783.4|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5235,0.415,0.329,0.26,0.10,0.34,,,0.000(P),,0.0000(T),.,1.671289,5.29,2.4,0.462000,0.622000,5.142000,0.227000,0.546000,1.000000,9.2617
synonymous_variant,TP53I11,SILENT,NM_001258320.1:p.Val182Val/c.546C>T,gtC/gtT,LOW,,0.0151757,0,rs386493921,,,,,,chr11,44956459,44956459,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val182Val/c.546C>T|189|TP53I11|protein_coding|CODING|NM_001258320.1|10|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val182Val/c.546C>T|189|TP53I11|protein_coding|CODING|NM_001258321.1|8|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val182Val/c.546C>T|189|TP53I11|protein_coding|CODING|NM_001258322.1|8|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val182Val/c.546C>T|189|TP53I11|protein_coding|CODING|NM_001258323.1|8|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val182Val/c.546C>T|189|TP53I11|protein_coding|CODING|NM_001258324.1|7|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val182Val/c.546C>T|189|TP53I11|protein_coding|CODING|NM_006034.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0133,0.013,0.0527,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,SLC35C1,MISSENSE,NM_018389.4:p.Ile240Val/c.718A>G,Atc/Gtc,MODERATE,COSM428995(2),0.102835,0.001,rs7130656,0.84(T),0.003(B),-0.55(N),-1.0510(T),,chr11,45832509,45832509,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile227Val/c.679A>G|351|SLC35C1|protein_coding|CODING|NM_001145265.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile227Val/c.679A>G|351|SLC35C1|protein_coding|CODING|NM_001145266.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile240Val/c.718A>G|364|SLC35C1|protein_coding|CODING|NM_018389.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081953.1,,0.0194,0.0677,0.1382,0.14,0.21,0.11,,0.080121(N),1.000(P),"-0.18,-0.18,-0.18(T,T,T)",0.0000(T),0.146,-0.319429,6.17,1.14,-1.617000,0.186000,0.551000,0.663000,0.969000,0.391000,5.0846
synonymous_variant,PEX16,SILENT,NM_057174.2:p.Tyr291Tyr/c.873T>C,taT/taC,LOW,COSM4145722(1),0.689097,0.4653,rs1132349,,,,,,chr11,45935384,45935384,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr291Tyr/c.873T>C|336|PEX16|protein_coding|CODING|NM_004813.2|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr291Tyr/c.873T>C|346|PEX16|protein_coding|CODING|NM_057174.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8742,0.6643,0.9215,0.81,0.60,0.92,,,,,,,,,,,,,,,,
missense_variant,PEX16,MISSENSE,NM_057174.2:p.Val116Ile/c.346G>A,Gtc/Atc,MODERATE,,1,1,rs10742772,1(T),"0.004,0.001(B,B)",-1.71(N),-0.9596(T),,chr11,45937267,45937267,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val116Ile/c.346G>A|336|PEX16|protein_coding|CODING|NM_004813.2|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val116Ile/c.346G>A|346|PEX16|protein_coding|CODING|NM_057174.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000001(N),0.998(P),"2.31,2.31,2.31,2.31(T,T,T,T)",0.0000(T),0.246,0.470098,5.29,5.29,-0.361000,0.861000,3.785000,0.930000,1.000000,1.000000,10.9007
synonymous_variant,GYLTL1B,SILENT,NM_001300721.1:p.Phe556Phe/c.1668C>T,ttC/ttT,LOW,COSM3998411(1),0.584265,0.4038,rs939105,,,,,,chr11,45949534,45949534,C,T,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe556Phe/c.1668C>T|721|GYLTL1B|protein_coding|CODING|NM_001300721.1|12|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe525Phe/c.1575C>T|690|GYLTL1B|protein_coding|CODING|NM_001300722.1|13|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe556Phe/c.1668C>T|721|GYLTL1B|protein_coding|CODING|NM_152312.4|12|1),downstream_gene_variant(MODIFIER||1336||680|PHF21A|protein_coding|CODING|NM_001101802.1||1),downstream_gene_variant(MODIFIER||1336||634|PHF21A|protein_coding|CODING|NM_016621.3||1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7393,0.6326,0.8996,0.73,0.40,0.89,,,,,,,,,,,,,,,,
missense_variant,DGKZ,MISSENSE,NM_001199266.1:p.Ala10Asp/c.29C>A,gCc/gAc,MODERATE,COSM228548(4),,,rs76656670,0.17(T),"0.981,0.981,0.991,0.991(D,D,D,D)",0(N),-0.9430(T),,chr11,46369238,46369238,C,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala10Asp/c.29C>A|934|DGKZ|protein_coding|CODING|NM_001199266.1|1|1),missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala10Asp/c.29C>A|928|DGKZ|protein_coding|CODING|NM_001199267.1|1|1),missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala10Asp/c.29C>A|906|DGKZ|protein_coding|CODING|NM_001199268.1|1|1),missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala10Asp/c.29C>A|929|DGKZ|protein_coding|CODING|NM_003646.3|1|1),intron_variant(MODIFIER|||c.212+14201C>A|945|DGKZ|protein_coding|CODING|NM_201532.2|1|1),intron_variant(MODIFIER|||c.176+2103C>A|933|DGKZ|protein_coding|CODING|NM_201533.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,,,,,,,,,0.000(P),"2.56,3.6,2.42,2.48,2.57(T,T,T,T,T)",0.0000(T),0.556,4.099956,4.3,3.37,0.449000,0.899000,1.560000,0.930000,0.999000,1.000000,11.9093
missense_variant,DGKZ,MISSENSE,NM_001199266.1:p.Ala20Thr/c.58G>A,Gcc/Acc,MODERATE,COSM4145731(2),,,rs114974750,0.53(T),"0.959,0.959,0.982,0.982(D,D,D,D)",0.69(N),-0.8927(T),,chr11,46369267,46369267,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala20Thr/c.58G>A|934|DGKZ|protein_coding|CODING|NM_001199266.1|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala20Thr/c.58G>A|928|DGKZ|protein_coding|CODING|NM_001199267.1|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala20Thr/c.58G>A|906|DGKZ|protein_coding|CODING|NM_001199268.1|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala20Thr/c.58G>A|929|DGKZ|protein_coding|CODING|NM_003646.3|1|1),intron_variant(MODIFIER|||c.212+14230G>A|945|DGKZ|protein_coding|CODING|NM_201532.2|1|1),intron_variant(MODIFIER|||c.176+2132G>A|933|DGKZ|protein_coding|CODING|NM_201533.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,,,,,,,,,0.000(P),"2.21,3.59,2.41,2.47,2.51(T,T,T,T,T)",0.0000(T),0.401,5.157726,4.36,4.36,0.449000,2.145000,2.683000,0.984000,1.000000,1.000000,14.2373
synonymous_variant,ARHGAP1,SILENT,NM_004308.3:p.Lys153Lys/c.459A>G,aaA/aaG,LOW,,0.999201,1,rs4268467,0(D),,,-1.0587(T),,chr11,46702920,46702920,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys153Lys/c.459A>G|439|ARHGAP1|protein_coding|CODING|NM_004308.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,1.00,1.00,,0.000000(D),0.000(P),-0.48(T),0.0000(T),.,0.561345,5.09,3.21,-0.930000,0.571000,1.662000,0.649000,1.000000,1.000000,9.2105
missense_variant,LRP4,MISSENSE,NM_002334.3:p.Arg1646Gln/c.4937G>A,cGg/cAg,MODERATE,,0.579673,0.3889,rs3816614,0.27(T),0.007(B),2.135(M),-0.9025(T),,chr11,46890165,46890165,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1646Gln/c.4937G>A|1905|LRP4|protein_coding|CODING|NM_002334.3|33|1),intron_variant(MODIFIER|||n.198-4460C>T||LRP4-AS1||NON_CODING|NR_038909.1|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7597,0.6484,0.7863,0.66,0.44,0.77,,0.023981(N),0.362(P),-3.82(D),0.0000(T),0.069,1.952445,6.04,2.15,0.563000,0.151000,0.494000,0.274000,0.997000,0.003000,8.9921
missense_variant,LRP4,MISSENSE,NM_002334.3:p.Ser1554Gly/c.4660A>G,Agc/Ggc,MODERATE,COSM4145740(1),0.367612,0.2569,rs2306029,0.04(D),0.3(B),2.015(M),-1.1171(T),,chr11,46893108,46893108,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1554Gly/c.4660A>G|1905|LRP4|protein_coding|CODING|NM_002334.3|31|1),intron_variant(MODIFIER|||n.198-1517T>C||LRP4-AS1||NON_CODING|NR_038909.1|2|1)","H1ESC:H3K36me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",D_dimer_levels,,,0.5624,0.4841,0.5417,0.43,0.19,0.54,,0.000020(D),0.000(P),-3.81(D),0.0000(T),0.353,3.633739,5.81,5.81,0.533000,2.210000,7.437000,0.998000,1.000000,1.000000,12.391
missense_variant,LRP4,MISSENSE,NM_002334.3:p.Ile1086Val/c.3256A>G,Att/Gtt,MODERATE,COSM147182(3),0.445887,0.2927,rs6485702,0.46(T),0.002(B),0(N),-0.9101(T),,chr11,46898771,46898771,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1086Val/c.3256A>G|1905|LRP4|protein_coding|CODING|NM_002334.3|23|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7096,0.572,0.6769,0.52,0.22,0.67,,0.000309(N),0.002(P),-2.76(D),0.0000(T),0.085,0.174078,6.17,3.91,0.533000,1.165000,2.139000,0.998000,1.000000,1.000000,8.3038
synonymous_variant,LRP4,SILENT,NM_002334.3:p.Lys546Lys/c.1638A>G,aaA/aaG,LOW,,0.980831,1,rs10838631,,,,,,chr11,46914583,46914583,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys546Lys/c.1638A>G|1905|LRP4|protein_coding|CODING|NM_002334.3|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.998,0.9928,0.993,0.98,0.96,0.99,,,,,,,,,,,,,,,,
synonymous_variant,LRP4,SILENT,NM_002334.3:p.Asp541Asp/c.1623T>C,gaT/gaC,LOW,,0.994609,1,rs10769215,,,,,,chr11,46914598,46914598,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp541Asp/c.1623T>C|1905|LRP4|protein_coding|CODING|NM_002334.3|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ARFGAP2,SILENT,NM_032389.4:p.Ala443Ala/c.1329A>G,gcA/gcG,LOW,,0.998802,1,rs4752820,,,,-1.0173(T),,chr11,47188314,47188314,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala415Ala/c.1245A>G|493|ARFGAP2|protein_coding|CODING|NM_001242832.1|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala443Ala/c.1329A>G|521|ARFGAP2|protein_coding|CODING|NM_032389.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,0.000(P),,0.0000(T),.,1.891497,5.91,-9.14,-2.208000,-2.249000,-1.137000,0.677000,0.001000,0.002000,0.2586
synonymous_variant,DDB2,SILENT,NM_000107.2:p.Thr126Thr/c.378T>C,acT/acC,LOW,,0.994209,1,rs326212,,,,,,chr11,47238522,47238522,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr126Thr/c.378T>C|427|DDB2|protein_coding|CODING|NM_000107.2|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr126Thr/c.378T>C|238|DDB2|protein_coding|CODING|NM_001300734.1|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HMEC:H3K36me3,IMR90:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MADD,SILENT,NM_003682.3:p.Glu347Glu/c.1041G>A,gaG/gaA,LOW,,0.470048,0.2738,rs326214,,,,,,chr11,47298360,47298360,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1544|MADD|protein_coding|CODING|NM_001135943.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1541|MADD|protein_coding|CODING|NM_001135944.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1647|MADD|protein_coding|CODING|NM_003682.3|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1588|MADD|protein_coding|CODING|NM_130470.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1565|MADD|protein_coding|CODING|NM_130471.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1545|MADD|protein_coding|CODING|NM_130472.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1608|MADD|protein_coding|CODING|NM_130473.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1479|MADD|protein_coding|CODING|NM_130474.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1581|MADD|protein_coding|CODING|NM_130475.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu347Glu/c.1041G>A|1587|MADD|protein_coding|CODING|NM_130476.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5429,0.6369,0.6899,0.58,0.36,0.69,,,,,,,,,,,,,,,,
synonymous_variant,MADD,SILENT,NM_003682.3:p.Asn480Asn/c.1440T>C,aaT/aaC,LOW,COSM4145743(1),0.296126,0.252,rs326217,,,,,,chr11,47303275,47303275,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1544|MADD|protein_coding|CODING|NM_001135943.1|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1541|MADD|protein_coding|CODING|NM_001135944.1|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1647|MADD|protein_coding|CODING|NM_003682.3|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1588|MADD|protein_coding|CODING|NM_130470.2|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1565|MADD|protein_coding|CODING|NM_130471.2|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1545|MADD|protein_coding|CODING|NM_130472.2|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1608|MADD|protein_coding|CODING|NM_130473.2|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1479|MADD|protein_coding|CODING|NM_130474.2|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1581|MADD|protein_coding|CODING|NM_130475.2|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn480Asn/c.1440T>C|1587|MADD|protein_coding|CODING|NM_130476.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2996,0.4352,0.3042,0.28,0.24,0.31,,,,,,,,,,,,,,,,
synonymous_variant,MADD,SILENT,NM_003682.3:p.Leu1371Leu/c.4111T>C,Ttg/Ctg,LOW,,0.99381,1,rs1017594,,,,,,chr11,47331116,47331116,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1268Leu/c.3802T>C|1544|MADD|protein_coding|CODING|NM_001135943.1|25|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1265Leu/c.3793T>C|1541|MADD|protein_coding|CODING|NM_001135944.1|25|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1371Leu/c.4111T>C|1647|MADD|protein_coding|CODING|NM_003682.3|28|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1312Leu/c.3934T>C|1588|MADD|protein_coding|CODING|NM_130470.2|25|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1289Leu/c.3865T>C|1565|MADD|protein_coding|CODING|NM_130471.2|26|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1269Leu/c.3805T>C|1545|MADD|protein_coding|CODING|NM_130472.2|25|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1332Leu/c.3994T>C|1608|MADD|protein_coding|CODING|NM_130473.2|26|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1269Leu/c.3805T>C|1479|MADD|protein_coding|CODING|NM_130474.2|25|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1371Leu/c.4111T>C|1581|MADD|protein_coding|CODING|NM_130475.2|28|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1311Leu/c.3931T>C|1587|MADD|protein_coding|CODING|NM_130476.2|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,SLC39A13,MISSENSE,NM_001128225.2:p.Glu28Gly/c.83A>G,gAa/gGa,MODERATE,,0.940495,1,rs2010519,1(T),"0.0,0.0,0.0(B,B,B)",-0.55(N),-0.9179(T),,chr11,47431728,47431728,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu28Gly/c.83A>G|364|SLC39A13|protein_coding|CODING|NM_152264.4|2|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu28Gly/c.83A>G|371|SLC39A13|protein_coding|CODING|NM_001128225.2|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,HSMM:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,1,0.9928,0.999,0.94,0.84,1.00,,0.008498(N),1.000(P),"-0.56,0.93,0.93,-0.54,-0.4,-0.21,-0.06,0.93,0.86(T,T,T,T,T,T,T,T,T)",0.0000(T),0.257,-1.411281,5.14,4.21,-0.215000,0.549000,0.643000,0.175000,0.992000,0.894000,2.1589
synonymous_variant,RAPSN,SILENT,NM_005055.4:p.Pro381Pro/c.1143T>C,ccT/ccC,LOW,COSM3931321(1),0.6248,0.6567,rs386607679,,,,,,chr11,47460306,47460306,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro381Pro/c.1143T>C|412|RAPSN|protein_coding|CODING|NM_005055.4|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro322Pro/c.966T>C|353|RAPSN|protein_coding|CODING|NM_032645.4|5|1)","HepG2:H3K4me2,HSMM:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3",,RCV000118117.2,,0.8364,0.6902,0.7058,0.61,0.42,0.71,,,,,,,,,,,,,,,,
synonymous_variant,RAPSN,SILENT,NM_005055.4:p.Tyr152Tyr/c.456T>C,taT/taC,LOW,,0.625599,0.6587,rs7111873,,,,,,chr11,47469439,47469439,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr152Tyr/c.456T>C|412|RAPSN|protein_coding|CODING|NM_005055.4|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr152Tyr/c.456T>C|353|RAPSN|protein_coding|CODING|NM_032645.4|2|1)","HSMM:H3K27ac,HSMM:H3K4me2,HSMM:H3K36me3,HSMM:H3K9ac,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K4me3,HSMM:H3K79me2",,RCV000118119.2,,0.8384,0.6902,0.7068,0.62,0.43,0.72,,,,,,,,,,,,,,,,
missense_variant,FAM180B,MISSENSE,NM_001164379.1:p.Ala145Thr/c.433G>A,Gcc/Acc,MODERATE,,0.984824,1,rs4486587,0(D),0.004(B),0.895(L),-1.0560(T),,chr11,47609867,47609867,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala145Thr/c.433G>A|183|FAM180B|protein_coding|CODING|NM_001164379.1|3|1),downstream_gene_variant(MODIFIER||1349||329|C1QTNF4|protein_coding|CODING|NM_031909.2||1)","HepG2:H3K4me2,K562:H3K36me3,HepG2:PolII,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,1,0.9914,0.996,0.98,0.95,1.00,,0.046250(N),1.000(P),"1.38,1.38(T,T)",0.0000(T),0.056,2.342779,5.28,1.36,-0.261000,0.253000,1.322000,0.083000,0.992000,0.956000,6.6354
missense_variant,MTCH2,MISSENSE,NM_014342.3:p.Pro290Ala/c.868C>G,Ccc/Gcc,MODERATE,COSM147185(1),0.257388,0.2768,rs1064608,0.02(D),0.881(P),1.98(M),-1.2590(T),,chr11,47640429,47640429,G,C,hom,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro290Ala/c.868C>G|303|MTCH2|protein_coding|CODING|NM_014342.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3211,0.4035,0.3539,0.27,0.10,0.35,,0.000000(D),0.000(P),"-1.55,-0.55(D,T)",0.0000(T),0.388,4.119413,5.13,5.13,0.555000,2.387000,6.708000,0.998000,1.000000,1.000000,15.5263
missense_variant,AGBL2,MISSENSE,NM_024783.3:p.Met671Ile/c.2013G>T,atG/atT,MODERATE,COSM3752392(1),0.580671,0.5694,rs12286721,0.14(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0257(T),,chr11,47701528,47701528,C,A,hom,missense_variant(MODERATE|MISSENSE|atG/atT|p.Met671Ile/c.2013G>T|902|AGBL2|protein_coding|CODING|NM_024783.3|13|1),,,,,0.4693,0.6657,0.5666,0.57,0.62,0.55,,0.004484(N),0.999(P),"3.01,3.01,3.01,3.01(T,T,T,T)",0.0000(T),0.067,1.417560,5.26,0.549,-1.211000,0.212000,0.469000,0.734000,1.000000,0.988000,6.0447
synonymous_variant,NUP160,SILENT,NM_015231.1:p.Asp598Asp/c.1794C>T,gaC/gaT,LOW,,0.99361,1,rs7110289,,,,,,chr11,47834592,47834592,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp598Asp/c.1794C>T|1436|NUP160|protein_coding|CODING|NM_015231.1|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,NUP160,MISSENSE,NM_015231.1:p.Thr351Ala/c.1051A>G,Acc/Gcc,MODERATE,COSM3752394(1),0.345847,0.4355,rs3816605,0.74(T),0.004(B),1.5(L),-0.9093(T),,chr11,47857253,47857253,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr351Ala/c.1051A>G|1436|NUP160|protein_coding|CODING|NM_015231.1|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5307,0.3242,0.4344,0.36,0.16,0.46,,0.005715(N),0.000(P),"0.94,0.94,0.94(T,T,T)",0.0000(T),0.033,1.708973,5.38,0.284,-1.705000,-0.207000,0.663000,0.702000,0.996000,0.997000,6.9307
synonymous_variant,PTPRJ,SILENT,NM_002843.3:p.Thr233Thr/c.699T>C,acT/acC,LOW,,0.452276,0.4812,rs2270992,,,,,,chr11,48145247,48145247,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr233Thr/c.699T>C|539|PTPRJ|protein_coding|CODING|NM_001098503.1|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr233Thr/c.699T>C|1337|PTPRJ|protein_coding|CODING|NM_002843.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3",,,,0.5695,0.6614,0.6074,0.47,0.21,0.60,,,,,,,,,,,,,,,,
missense_variant,PTPRJ,MISSENSE,NM_002843.3:p.Glu872Asp/c.2616G>C,gaG/gaC,MODERATE,,0.367212,0.3839,rs4752904,1(T),0.006(B),0.46(N),-0.9110(T),,chr11,48166267,48166267,G,C,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu872Asp/c.2616G>C|1337|PTPRJ|protein_coding|CODING|NM_002843.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.5908,0.5835,0.43,0.15,0.58,,,0.000(P),2.57(T),0.0000(T),0.045,0.120524,5.45,-10.9,-0.911000,-2.555000,-4.356000,0.071000,0.000000,0.000000,1.7439
synonymous_variant,OR4B1,SILENT,NM_001005470.1:p.Ala20Ala/c.60T>G,gcT/gcG,LOW,,0.977835,1,rs10769329,,,,,,chr11,48238421,48238421,T,G,hom,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala20Ala/c.60T>G|309|OR4B1|protein_coding|CODING|NM_001005470.1|1|1),,,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,OR4B1,MISSENSE,NM_001005470.1:p.Thr274Met/c.821C>T,aCg/aTg,MODERATE,,0.0203674,0.001,rs7130086,0(D),0.989(D),3.245(M),-1.0709(T),,chr11,48239182,48239182,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr274Met/c.821C>T|309|OR4B1|protein_coding|CODING|NM_001005470.1|1|1),,,,,0.0286,0.0274,0.0497,,,,,0.000035(D),0.596(N),8.4(T),0.0024(T),0.544,1.929750,5.54,4.63,-0.302000,1.347000,1.092000,0.088000,0.953000,0.195000,12.4818
missense_variant,OR4X1,MISSENSE,NM_001004726.1:p.Arg144Gly/c.430A>G,Agg/Ggg,MODERATE,,0.988618,1,rs1503193,0.53(T),0.0(B),-1.425(N),-0.9751(T),,chr11,48285842,48285842,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg144Gly/c.430A>G|305|OR4X1|protein_coding|CODING|NM_001004726.1|1|1),,,,,1,0.9971,1,0.99,0.97,1.00,,,1.000(P),1.33(T),0.0000(T),0.043,-2.347803,4.28,4.28,-0.247000,1.188000,0.786000,0.001000,0.777000,0.002000,5.7884
synonymous_variant,OR4X1,SILENT,NM_001004726.1:p.Gly148Gly/c.444C>T,ggC/ggT,LOW,,0.603834,0.5476,rs10838850,,,,,,chr11,48285856,48285856,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly148Gly/c.444C>T|305|OR4X1|protein_coding|CODING|NM_001004726.1|1|1),,,,,0.5,0.7406,0.7445,0.69,0.57,0.75,,,,,,,,,,,,,,,,
stop_gained,OR4X1,NONSENSE,NM_001004726.1:p.Tyr273*/c.819T>A,taT/taA,HIGH,,0.604233,0.5476,rs10838851,1(T),,,,,chr11,48286231,48286231,T,A,hom,stop_gained(HIGH|NONSENSE|taT/taA|p.Tyr273*/c.819T>A|305|OR4X1|protein_coding|CODING|NM_001004726.1|1|1),,,,,0.5,0.7406,0.7445,0.69,0.57,0.75,,,0.000(P),,,.,0.524683,4.29,2.38,-0.230000,0.536000,-0.199000,0.050000,0.963000,0.003000,5.8484
missense_variant,OR4X1,MISSENSE,NM_001004726.1:p.Pro282Ser/c.844C>T,Cct/Tct,MODERATE,,0.384185,0.3829,rs10838852,0(D),0.999(D),4.2(H),-0.8991(T),,chr11,48286256,48286256,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro282Ser/c.844C>T|305|OR4X1|protein_coding|CODING|NM_001004726.1|1|1),,,,,0.3528,0.5807,0.5696,0.45,0.22,0.57,,,0.727(P),-0.04(T),0.0000(T),0.323,2.283838,4.29,4.29,0.563000,2.368000,4.351000,0.098000,0.985000,0.999000,14.6159
synonymous_variant,OR4S1,SILENT,NM_001004725.1:p.Asn290Asn/c.870C>T,aaC/aaT,LOW,COSM3752402(1),0.43131,0.4544,rs753095,,,,,,chr11,48328644,48328644,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn290Asn/c.870C>T|309|OR4S1|protein_coding|CODING|NM_001004725.1|1|1),,,,,0.5297,0.2911,0.3042,0.36,0.49,0.30,,,,,,,,,,,,,,,,
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Leu7Leu/c.21T>C,ctT/ctC,LOW,,,,rs78206553,,,,,,chr11,48346513,48346513,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu7Leu/c.21T>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Leu11Phe/c.31C>T,Ctt/Ttt,MODERATE,,,,rs72911451,0.01(D),,,-1.0018(T),,chr11,48346523,48346523,C,T,het,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu11Phe/c.31C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.478076(N),1.000(N),3.09(T),0.0240(T),0.071,2.092188,3.83,0.254,-0.278000,0.188000,0.338000,0.452000,0.001000,0.000000,5.7071
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Gly15Arg/c.43G>C,Ggc/Cgc,MODERATE,,,,rs76964780,0.07(T),,,-0.9836(T),,chr11,48346535,48346535,G,C,het,missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly15Arg/c.43G>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.941067(N),1.000(N),3.18(T),0.0360(T),0.245,3.271500,5.56,4.64,0.549000,1.363000,0.455000,0.524000,0.311000,0.000000,12.6524
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Thr17Ser/c.49A>T,Act/Tct,MODERATE,COSM147192(1),,,rs75498992,0.46(T),,,-0.9651(T),,chr11,48346541,48346541,A,T,het,missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr17Ser/c.49A>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.366353(N),1.000(N),3.21(T),0.0098(T),0.041,2.603821,5.46,-4.44,0.449000,-0.518000,-0.314000,0.556000,0.001000,0.000000,1.3009
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Pro19Ser/c.55C>T,Cct/Tct,MODERATE,,,,rs79042268,1(T),,,-0.9546(T),,chr11,48346547,48346547,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro19Ser/c.55C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.066300(N),1.000(P),3.25(T),0.0069(T),0.049,2.075533,5.56,-5.18,0.549000,-0.536000,-1.054000,0.469000,0.000000,0.000000,4.5993
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Ala20Glu/c.59C>A,gCa/gAa,MODERATE,,,,rs77470587,0.07(T),,,-0.9494(T),,chr11,48346551,48346551,C,A,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala20Glu/c.59C>A|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.834657(N),1.000(N),3.16(T),0.0195(T),0.142,2.651024,5.56,1.53,0.549000,0.718000,-0.046000,0.445000,0.010000,0.000000,1.7855
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Asp29Glu/c.87C>A,gaC/gaA,MODERATE,,,,rs72911452,1(T),0.001(B),-0.77(N),-0.9415(T),,chr11,48346579,48346579,C,A,het,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp29Glu/c.87C>A|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.405417(N),1.000(N),5.52(T),0.0009(T),0.077,0.666443,5.67,-5.3,-0.391000,-0.820000,-1.024000,0.722000,0.001000,0.000000,0.278
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Gln32His/c.96A>C,caA/caC,MODERATE,COSM4145770(1),,,rs75900655,0.19(T),0.0(B),-0.895(N),-0.9462(T),,chr11,48346588,48346588,A,C,het,missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln32His/c.96A>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.048160(N),1.000(N),7.32(T),0.0004(T),0.073,2.598682,5.67,-4.03,-1.611000,-0.789000,-1.465000,0.802000,0.000000,0.000000,5.7555
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Phe38Val/c.112T>G,Ttc/Gtc,MODERATE,,,,rs75647397,0.5(T),0.0(B),-0.98(N),-0.9703(T),,chr11,48346604,48346604,T,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe38Val/c.112T>G|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.002842(N),1.000(N),6.67(T),0.0006(T),0.454,0.447686,5.88,2.02,0.449000,0.466000,-0.009000,0.994000,0.987000,0.000000,5.3874
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Gly41Gly/c.123G>A,ggG/ggA,LOW,,,,rs73463988,,,,,,chr11,48346615,48346615,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly41Gly/c.123G>A|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Thr63Thr/c.189G>A,acG/acA,LOW,,,,rs78490540,,,,,,chr11,48346681,48346681,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr63Thr/c.189G>A|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Thr79Thr/c.237G>C,acG/acC,LOW,,,,rs73463990,,,,,,chr11,48346729,48346729,G,C,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr79Thr/c.237G>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Ser100Phe/c.299C>T,tCt/tTt,MODERATE,,,,rs73463994,0(D),0.044(B),2.325(M),-0.9998(T),,chr11,48346791,48346791,C,T,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser100Phe/c.299C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.000183(D),0.994(N),4.02(T),0.0000(T),0.762,1.820639,5.88,5.88,0.549000,2.829000,2.146000,0.296000,0.219000,0.005000,17.8871
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Ser110Ser/c.330A>C,tcA/tcC,LOW,,,,rs73463997,,,,,,chr11,48346822,48346822,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser110Ser/c.330A>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Ile117Ile/c.351C>T,atC/atT,LOW,,,,rs73463998,,,,,,chr11,48346843,48346843,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile117Ile/c.351C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Val142Leu/c.424G>C,Gtg/Ctg,MODERATE,COSM1180649(2),,,rs77069283,0.18(T),0.012(B),1.525(L),-1.0330(T),,chr11,48346916,48346916,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val142Leu/c.424G>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.006223(N),1.000(N),3.49(T),0.0196(T),0.663,1.912807,5.78,4.87,0.478000,1.493000,1.564000,0.690000,0.788000,0.021000,12.5315
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Ala144Ala/c.432T>C,gcT/gcC,LOW,COSM4145771(1),,,rs72911454,,,,,,chr11,48346924,48346924,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala144Ala/c.432T>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Arg147His/c.440G>A,cGc/cAc,MODERATE,COSM4145772(1),0.00279553,0,rs80285195,0.03(D),0.013(B),3.42(M),-0.0293(T),,chr11,48346932,48346932,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg147His/c.440G>A|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,0.0041,0.0014,0,,,,,0.001833(N),0.999(D),-1.1(T),0.5466(D),0.359,3.598179,5.78,5.78,0.478000,2.782000,6.507000,0.684000,1.000000,1.000000,17.6798
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Asn157Tyr/c.469A>T,Aat/Tat,MODERATE,COSM4145773(1),,,rs75493089,1(T),0.0(B),-4.415(N),-0.9866(T),,chr11,48346961,48346961,A,T,het,missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn157Tyr/c.469A>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.006097(N),0.771(N),2.87(T),0.0026(T),0.192,-1.328244,5.78,4.66,-0.562000,1.048000,6.104000,0.156000,0.914000,1.000000,10.809
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Asn157Ser/c.470A>G,aAt/aGt,MODERATE,COSM4145774(1),,,rs74589050,0(D),0.0(B),0.345(N),-1.0671(T),,chr11,48346962,48346962,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn157Ser/c.470A>G|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.006097(N),0.849(N),2.15(T),0.0357(T),0.194,2.055245,5.78,5.78,0.391000,2.245000,9.088000,0.155000,0.871000,1.000000,14.2031
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Leu169Leu/c.507T>G,ctT/ctG,LOW,,,,rs72473367,,,,,,chr11,48346999,48346999,T,G,het,synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu169Leu/c.507T>G|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,,,,,,,,,,,,,,
stop_gained,OR4C3,NONSENSE,NM_001004702.1:p.Trp174*/c.522G>A,tgG/tgA,HIGH,,,,rs72473368,1(T),,,,,chr11,48347014,48347014,G,A,het,stop_gained(HIGH|NONSENSE|tgG/tgA|p.Trp174*/c.522G>A|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.000170(D),1.000(D),,,.,4.667316,5.78,5.78,0.478000,2.782000,1.461000,0.985000,0.967000,0.947000,17.6798
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Gly177Gly/c.531C>T,ggC/ggT,LOW,,,,rs67077733,,,,,,chr11,48347023,48347023,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly177Gly/c.531C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Pro192Leu/c.575C>T,cCc/cTc,MODERATE,,,,rs73464001,0(D),0.998(D),2.51(M),-0.5328(T),,chr11,48347067,48347067,C,T,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro192Leu/c.575C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.000085(D),0.997(D),8.65(T),0.0000(T),0.764,3.679921,5.78,5.78,0.478000,2.782000,2.481000,0.740000,1.000000,0.009000,17.6798
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Asn197Ser/c.590A>G,aAt/aGt,MODERATE,,,,rs148047717,0.02(D),0.913(D),3.195(M),-0.9733(T),,chr11,48347082,48347082,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn197Ser/c.590A>G|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,0.00,0.00,0.00,,0.000032(D),1.000(N),8.46(T),0.0018(T),0.198,3.070640,5.78,3.42,0.391000,0.455000,1.023000,0.979000,0.512000,0.000000,6.2611
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Ala203Val/c.608C>T,gCc/gTc,MODERATE,COSM3998421(2),,,rs73465905,0.27(T),0.001(B),-0.04(N),-1.0210(T),,chr11,48347100,48347100,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala203Val/c.608C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.006326(N),1.000(N),8.83(T),0.0000(T),0.096,1.373492,5.78,4.63,-0.616000,1.045000,0.788000,0.966000,0.994000,0.014000,10.0661
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Glu211Gly/c.632A>G,gAa/gGa,MODERATE,COSM4145775(1),,,rs79019124,0.07(T),0.001(B),1.6(L),-1.0050(T),,chr11,48347124,48347124,A,G,het,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu211Gly/c.632A>G|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.001837(N),0.954(N),8.62(T),0.0006(T),0.4,2.266344,5.78,4.65,0.391000,1.046000,1.362000,0.935000,0.954000,0.003000,10.0161
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Ala213Gly/c.638C>G,gCc/gGc,MODERATE,COSM3998422(2),,,rs77395846,0.01(D),0.013(B),3.75(H),-1.0496(T),,chr11,48347130,48347130,C,G,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala213Gly/c.638C>G|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.002294(N),0.895(N),8.49(T),0.0014(T),0.567,2.415614,5.78,4.88,0.478000,1.494000,1.443000,0.812000,0.793000,0.003000,12.5701
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Asn216Asn/c.648T>C,aaT/aaC,LOW,,0.397165,0.4583,rs10838874,,,,,,chr11,48347140,48347140,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn216Asn/c.648T>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,0.501,0.2594,0.2555,0.31,0.44,0.25,,,,,,,,,,,,,,,,
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Thr217Met/c.650C>T,aCg/aTg,MODERATE,COSM147193(2),,,rs79891698,0(D),0.512(P),3.345(M),-0.7178(T),,chr11,48347142,48347142,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr217Met/c.650C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,RCV000069396.2,,,,,,,,,0.000053(D),0.980(D),8.39(T),0.0020(T),0.653,2.604338,5.88,5.88,0.549000,2.829000,1.152000,0.031000,0.790000,0.021000,17.8871
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Tyr218His/c.652T>C,Tat/Cat,MODERATE,COSM147194(2),,,rs79124801,0.65(T),0.002(B),0.035(N),-1.0926(T),,chr11,48347144,48347144,T,C,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr218His/c.652T>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,RCV000069397.2,,,,,,,,,0.038959(N),1.000(N),8.59(T),0.0002(T),0.185,-2.428461,5.88,1.15,0.449000,0.516000,-2.069000,0.034000,0.000000,0.000000,8.657
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Cys259Arg/c.775T>C,Tgc/Cgc,MODERATE,,,,rs73465910,1(T),0.001(B),-1.76(N),-0.8887(T),,chr11,48347267,48347267,T,C,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys259Arg/c.775T>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.014380(N),1.000(N),8.86(T),0.0000(T),0.076,-1.814756,5.88,0.562,-0.404000,0.113000,-2.010000,0.633000,0.164000,0.000000,3.8859
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Val272Phe/c.814G>T,Gtt/Ttt,MODERATE,,,,rs73465911,0(D),0.41(B),3.42(M),-1.0050(T),,chr11,48347306,48347306,G,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val272Phe/c.814G>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,0.000253(D),0.803(D),7.93(T),0.0031(T),0.84,2.191663,5.97,5.97,0.561000,2.838000,1.881000,0.351000,0.997000,0.980000,17.9278
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Val284Met/c.850G>A,Gtg/Atg,MODERATE,COSM4145776(1),,,rs76958755,1(T),0.004(B),0.86(L),-1.0125(T),,chr11,48347342,48347342,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val284Met/c.850G>A|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.055751(N),1.000(P),1.13(T),0.0460(T),0.141,-2.508556,5.97,0.926,-0.340000,0.156000,-2.482000,0.221000,0.006000,0.000000,1.5114
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.His285Leu/c.854A>T,cAt/cTt,MODERATE,COSM4145777(1),,,rs74590631,0(D),0.001(B),-0.495(N),-1.0739(T),,chr11,48347346,48347346,A,T,het,missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His285Leu/c.854A>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.030613(N),1.000(P),1.29(T),0.0398(T),0.402,0.917444,5.97,4.04,0.459000,0.778000,0.147000,0.268000,0.001000,0.000000,9.2017
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Thr289Ile/c.866C>T,aCt/aTt,MODERATE,COSM1742580(1),,,rs76274696,0.04(D),0.061(B),1.385(L),-1.0137(T),,chr11,48347358,48347358,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr289Ile/c.866C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.001617(N),1.000(N),1.27(T),0.0754(T),0.609,0.792633,5.97,4.08,0.561000,1.512000,-0.841000,0.429000,0.383000,0.000000,7.4751
missense_variant,OR4C3,MISSENSE,NM_001004702.1:p.Pro291Ser/c.871C>T,Cct/Tct,MODERATE,COSM1742581(2),,,rs77814753,0.43(T),0.019(B),0.395(N),-0.9763(T),,chr11,48347363,48347363,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro291Ser/c.871C>T|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,0.070518(N),1.000(P),8.91(T),0.0002(T),0.139,-1.234256,5.96,-7.42,-0.417000,-1.392000,-4.844000,0.031000,0.000000,0.000000,14.2515
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Tyr300Tyr/c.900T>C,taT/taC,LOW,,,,rs79127479,,,,,,chr11,48347392,48347392,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr300Tyr/c.900T>C|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C3,SILENT,NM_001004702.1:p.Pro309Pro/c.927A>G,ccA/ccG,LOW,,,,rs73465913,,,,,,chr11,48347419,48347419,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro309Pro/c.927A>G|329|OR4C3|protein_coding|CODING|NM_001004702.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Arg287Ser/c.861A>C,agA/agC,MODERATE,,,,rs76319939,,,,,,chr11,48366958,48366958,T,G,het,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg287Ser/c.861A>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),H1ESC:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Pro283Arg/c.848C>G,cCt/cGt,MODERATE,COSN229010,,,rs75689989,,,,,,chr11,48366971,48366971,G,C,het,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro283Arg/c.848C>G|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),H1ESC:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Pro283Ser/c.847C>T,Cct/Tct,MODERATE,,,,rs75621879,,,,,,chr11,48366972,48366972,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro283Ser/c.847C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),H1ESC:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Phe249Cys/c.746T>G,tTt/tGt,MODERATE,,0.795527,0.8353,rs7941588,,,,,,chr11,48367073,48367073,A,C,het,missense_variant(MODERATE|MISSENSE|tTt/tGt|p.Phe249Cys/c.746T>G|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H4K20me3,CD4:H2BK120ac",,,,0.8487,0.8473,0.8241,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Ile241Thr/c.722T>C,aTt/aCt,MODERATE,COSN229008,,,rs73453179,,,,,,chr11,48367097,48367097,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile241Thr/c.722T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Arg229Leu/c.686G>T,cGc/cTc,MODERATE,,,,rs79453749,,,,,,chr11,48367133,48367133,C,A,het,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg229Leu/c.686G>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Arg228His/c.683G>A,cGt/cAt,MODERATE,,0.0235623,0,rs78927905,,,,,,chr11,48367136,48367136,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg228His/c.683G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,CD4:H4K20me3,CD4:H2BK120ac",,,,0,0.0086,0,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Thr222Ser/c.664A>T,Act/Tct,MODERATE,,,,rs75315666,,,,,,chr11,48367155,48367155,T,A,het,missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr222Ser/c.664A>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Leu220Leu/c.660G>A,ctG/ctA,LOW,,,,rs75667244,,,,,,chr11,48367159,48367159,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu220Leu/c.660G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Phe219Ser/c.656T>C,tTc/tCc,MODERATE,,,,rs74650698,,,,,,chr11,48367163,48367163,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe219Ser/c.656T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Leu217Leu/c.649C>T,Ctg/Ttg,LOW,,,,rs77876442,,,,,,chr11,48367170,48367170,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu217Leu/c.649C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Val210Asp/c.629T>A,gTt/gAt,MODERATE,,,,rs78661795,,,,,,chr11,48367190,48367190,A,T,het,missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val210Asp/c.629T>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Met208Ile/c.624G>A,atG/atA,MODERATE,,,,rs79063955,,,,,,chr11,48367195,48367195,C,T,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met208Ile/c.624G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Leu190Leu/c.570G>A,ttG/ttA,LOW,,,,rs74815769,,,,,,chr11,48367249,48367249,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu190Leu/c.570G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Thr189Thr/c.567C>T,acC/acT,LOW,,,,rs76287086,,,,,,chr11,48367252,48367252,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr189Thr/c.567C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Asn170Asp/c.508A>G,Aac/Gac,MODERATE,,,,rs73453180,,,,,,chr11,48367311,48367311,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn170Asp/c.508A>G|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Gly152Gly/c.456G>A,ggG/ggA,LOW,,,,rs73453183,,,,,,chr11,48367363,48367363,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly152Gly/c.456G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Gly144Gly/c.432G>A,ggG/ggA,LOW,,,,rs78788561,,,,,,chr11,48367387,48367387,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly144Gly/c.432G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Pro134Ser/c.400C>T,Cct/Tct,MODERATE,,,,rs77576379,,,,,,chr11,48367419,48367419,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro134Ser/c.400C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Ser132Thr/c.395G>C,aGc/aCc,MODERATE,,,,rs77976451,,,,,,chr11,48367424,48367424,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser132Thr/c.395G>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Arg122Cys/c.364C>T,Cgt/Tgt,MODERATE,,0.000199681,0.001,rs79175163,,,,,,chr11,48367455,48367455,G,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg122Cys/c.364C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3,CD4:H2BK120ac",,,,0,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.His117Arg/c.350A>G,cAc/cGc,MODERATE,,0.0253594,0,rs79686513,,,,,,chr11,48367469,48367469,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His117Arg/c.350A>G|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3",,,,0,0.0072,0.001,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.His117Tyr/c.349C>T,Cac/Tac,MODERATE,,,,rs80201516,,,,,,chr11,48367470,48367470,G,A,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His117Tyr/c.349C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Tyr115Tyr/c.345T>C,taT/taC,LOW,,,,rs75116918,,,,,,chr11,48367474,48367474,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr115Tyr/c.345T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,CD4:H3K79me3,H1ESC:H3K9me3,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Ile107Thr/c.320T>C,aTc/aCc,MODERATE,,,,rs72896822,,,,,,chr11,48367499,48367499,A,G,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile107Thr/c.320T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,H1ESC:H3K9me3,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Glu103Ala/c.308A>C,gAg/gCg,MODERATE,,,,rs72896823,,,,,,chr11,48367511,48367511,T,G,het,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu103Ala/c.308A>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,H1ESC:H3K9me3,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Lys84Asn/c.252G>C,aaG/aaC,MODERATE,COSN229011,,,rs73453188,,,,,,chr11,48373748,48373748,C,G,het,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys84Asn/c.252G>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Asn77Ile/c.230A>T,aAc/aTc,MODERATE,COSN229012,,,rs73453191,,,,,,chr11,48373770,48373770,T,A,het,missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn77Ile/c.230A>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Cys68Tyr/c.203G>A,tGc/tAc,MODERATE,,,,rs72896825,,,,,,chr11,48373797,48373797,C,T,het,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys68Tyr/c.203G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Asp65Asp/c.195C>T,gaC/gaT,LOW,,,,rs75618010,,,,,,chr11,48373805,48373805,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp65Asp/c.195C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Phe62Ser/c.185T>C,tTc/tCc,MODERATE,,,,rs74350365,,,,,,chr11,48373815,48373815,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe62Ser/c.185T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Leu61Leu/c.183G>A,ttG/ttA,LOW,,,,rs75951679,,,,,,chr11,48373817,48373817,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu61Leu/c.183G>A|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
stop_gained,OR4C45,NONSENSE,NM_001005513.1:p.Tyr60*/c.180T>G,taT/taG,HIGH,,,,rs3898634,,,,,OR4C45:1.00(1);OR4C45:1.00(1);,chr11,48373820,48373820,A,C,het,stop_gained(HIGH|NONSENSE|taT/taG|p.Tyr60*/c.180T>G|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Pro58Leu/c.173C>T,cCg/cTg,MODERATE,,0.0233626,0,rs80081241,,,,,,chr11,48373827,48373827,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro58Leu/c.173C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0,0.0072,0,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Ser56Phe/c.167C>T,tCt/tTt,MODERATE,,,,rs75965588,,,,,,chr11,48373833,48373833,G,A,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser56Phe/c.167C>T|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Ser56Pro/c.166T>C,Tct/Cct,MODERATE,,,,rs75261463,,,,,,chr11,48373834,48373834,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser56Pro/c.166T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Phe39Leu/c.115T>C,Ttc/Ctc,MODERATE,COSN229009,,,rs76292854,,,,,,chr11,48373885,48373885,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe39Leu/c.115T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Leu34Leu/c.100T>C,Ttg/Ctg,LOW,,,,rs77877396,,,,,,chr11,48373900,48373900,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu34Leu/c.100T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Leu22Leu/c.64T>C,Ttg/Ctg,LOW,,,,rs76304554,,,,,,chr11,48373936,48373936,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu22Leu/c.64T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4C45,SILENT,NM_001005513.1:p.Ile8Ile/c.24A>C,atA/atC,LOW,,,,rs80225178,,,,,,chr11,48373976,48373976,T,G,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile8Ile/c.24A>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4C45,MISSENSE,NM_001005513.1:p.Ile5Thr/c.14T>C,aTa/aCa,MODERATE,,,,rs12420054,,,,,,chr11,48373986,48373986,A,G,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile5Thr/c.14T>C|305|OR4C45|protein_coding|CODING|NM_001005513.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A47,MISSENSE,NM_001005512.2:p.Ile104Leu/c.310A>C,Att/Ctt,MODERATE,,0.480431,0.4474,rs7103557,0.5(T),0.0(B),,-1.1056(T),,chr11,48510654,48510654,A,C,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile104Leu/c.310A>C|309|OR4A47|protein_coding|CODING|NM_001005512.2|1|1),,,,,0.4059,0.5922,0.6451,0.56,0.44,0.62,,0.064984(N),1.000(P),5.83(T),0.0000(T),0.059,-2.152709,4.82,1.05,-1.375000,-0.063000,-2.133000,0.013000,0.174000,0.000000,4.3157
missense_variant,OR4A47,MISSENSE,NM_001005512.2:p.Val145Met/c.433G>A,Gtg/Atg,MODERATE,,0.480431,0.4474,rs7103992,0.17(T),0.447(P),1.555(L),-0.9492(T),,chr11,48510777,48510777,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val145Met/c.433G>A|309|OR4A47|protein_coding|CODING|NM_001005512.2|1|1),,,,,0.4059,0.5922,0.6451,0.56,0.44,0.62,,0.154387(N),1.000(P),1.07(T),0.0000(T),0.081,0.404118,4.84,2.74,0.511000,0.948000,-0.261000,0.007000,0.004000,0.000000,4.9609
missense_variant,TRIM49B,MISSENSE,NM_001206626.1:p.Leu398Met/c.1192C>A,Ctg/Atg,MODERATE,,0.723043,0.6022,rs2696914,0.16(T),,0.595(N),-0.9028(T),,chr11,49059362,49059362,C,A,hom,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu398Met/c.1192C>A|452|TRIM49B|protein_coding|CODING|NM_001206626.1|6|1),,,,,0.5061,0.7579,0.8221,,,,,,1.000(P),-0.38(T),0.0000(T),0.117,-2.116740,0.689,-1.38,-3.173000,-3.904000,-2.242000,0.003000,0.000000,0.000000,.
synonymous_variant,TRIM64C,SILENT,NM_001206631.1:p.Ser338Ser/c.1014C>T,tcC/tcT,LOW,COSM3931334(1),0.714657,0.6032,rs2851535,,,,,,chr11,49075605,49075605,G,A,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser338Ser/c.1014C>T|450|TRIM64C|protein_coding|CODING|NM_001206631.1|6|1),,,,,0.5061,0.7565,0.8231,,,,,,,,,,,,,,,,,,,
missense_variant,TRIM64C,MISSENSE,NM_001206631.1:p.Ala333Val/c.998C>T,gCg/gTg,MODERATE,,0.0213658,0.001,rs61886906,0.06(T),,1.935(M),-0.9945(T),,chr11,49075621,49075621,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala333Val/c.998C>T|450|TRIM64C|protein_coding|CODING|NM_001206631.1|6|1),,,,,0.0307,0.0274,0.0527,,,,,,1.000(N),3.3(T),0.0040(T),0.09,0.856296,1.55,-0.69,0.184000,-0.168000,-0.244000,0.028000,0.000000,0.000000,2.0163
missense_variant,TRIM64C,MISSENSE,NM_001206631.1:p.Ile17Val/c.49A>G,Att/Gtt,MODERATE,COSM4145796(1),0.329872,0.3651,rs60452246,0.14(T),,1.22(L),-0.9277(T),,chr11,49080616,49080616,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile17Val/c.49A>G|450|TRIM64C|protein_coding|CODING|NM_001206631.1|1|1),,,,,0.32,0.5115,0.498,,,,,,1.000(P),1.8(T),0.0000(T),0.115,0.441899,1.55,0.361,0.155000,0.100000,0.855000,0.054000,0.003000,0.827000,3.4227
missense_variant,FOLH1,MISSENSE,NM_004476.1:p.His475Tyr/c.1423C>T,Cac/Tac,MODERATE,COSM1579769(2),0.0289537,0.001,rs61886492,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.94(N),-0.9794(T),,chr11,49186274,49186274,G,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His475Tyr/c.1423C>T|719|FOLH1|protein_coding|CODING|NM_001014986.1|13|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His460Tyr/c.1378C>T|735|FOLH1|protein_coding|CODING|NM_001193471.1|14|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His460Tyr/c.1378C>T|704|FOLH1|protein_coding|CODING|NM_001193472.1|14|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His167Tyr/c.499C>T|442|FOLH1|protein_coding|CODING|NM_001193473.1|11|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His475Tyr/c.1423C>T|750|FOLH1|protein_coding|CODING|NM_004476.1|13|1)",,,,,0.0307,0.0274,0.0507,0.04,0.03,0.05,,0.000155(N),1.000(N),"1.18,1.18,1.18,1.18,1.18(T,T,T,T,T)",0.0031(T),0.197,-1.170406,3.55,3.55,-0.720000,0.460000,5.437000,0.712000,1.000000,1.000000,7.0296
synonymous_variant,FOLH1,SILENT,NM_004476.1:p.Thr353Thr/c.1059A>G,acA/acG,LOW,,0.418331,0.3175,rs202716,,,,,,chr11,49196490,49196490,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr353Thr/c.1059A>G|719|FOLH1|protein_coding|CODING|NM_001014986.1|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr338Thr/c.1014A>G|735|FOLH1|protein_coding|CODING|NM_001193471.1|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr338Thr/c.1014A>G|704|FOLH1|protein_coding|CODING|NM_001193472.1|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr45Thr/c.135A>G|442|FOLH1|protein_coding|CODING|NM_001193473.1|7|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr353Thr/c.1059A>G|750|FOLH1|protein_coding|CODING|NM_004476.1|9|1)",,,,,0.4325,0.3156,0.2744,,,,,,,,,,,,,,,,,,,
synonymous_variant,FOLH1,SILENT,NM_004476.1:p.Asp244Asp/c.732T>C,gaT/gaC,LOW,COSM3998430(2),0.406749,0.3175,rs182169,,,,,,chr11,49207315,49207315,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp244Asp/c.732T>C|719|FOLH1|protein_coding|CODING|NM_001014986.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp229Asp/c.687T>C|735|FOLH1|protein_coding|CODING|NM_001193471.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp229Asp/c.687T>C|704|FOLH1|protein_coding|CODING|NM_001193472.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp244Asp/c.732T>C|750|FOLH1|protein_coding|CODING|NM_004476.1|6|1),intron_variant(MODIFIER|||c.-99+881T>C|442|FOLH1|protein_coding|CODING|NM_001193473.1|4|1)",,,,,0.4325,0.3141,0.2753,0.31,0.46,0.24,,,,,,,,,,,,,,,,
synonymous_variant,FOLH1,SILENT,NM_004476.1:p.Ala111Ala/c.333A>T,gcA/gcT,LOW,COSM3998431(1),0.414936,0.3165,rs202680,,,,,,chr11,49221885,49221885,T,A,het,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala111Ala/c.333A>T|719|FOLH1|protein_coding|CODING|NM_001014986.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala96Ala/c.288A>T|735|FOLH1|protein_coding|CODING|NM_001193471.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala96Ala/c.288A>T|704|FOLH1|protein_coding|CODING|NM_001193472.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala111Ala/c.333A>T|750|FOLH1|protein_coding|CODING|NM_004476.1|3|1),intron_variant(MODIFIER|||c.-327+5734A>T|442|FOLH1|protein_coding|CODING|NM_001193473.1|2|1)",,,,,0.4325,0.3156,0.2753,0.36,0.54,0.27,,,,,,,,,,,,,,,,
missense_variant,OR4C13,MISSENSE,NM_001001955.2:p.Val133Ile/c.397G>A,Gtc/Atc,MODERATE,,0.997404,1,rs28662375,,0.0(B),-1.72(N),-1.0107(T),,chr11,49974371,49974371,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val133Ile/c.397G>A|309|OR4C13|protein_coding|CODING|NM_001001955.2|1|1),,,,,1,1,1,1.00,0.99,1.00,,0.000214(N),1.000(P),5.33(T),0.0000(T),0.027,-2.791176,2.95,2.95,-1.298000,0.347000,0.207000,0.018000,0.337000,0.006000,3.4208
missense_variant,OR4C12,MISSENSE,NM_001005270.4:p.Val283Leu/c.847G>T,Gtg/Ttg,MODERATE,,0.492212,0.5565,rs4598671,1(T),0.0(B),-0.535(N),-0.9248(T),,chr11,50003191,50003191,C,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val283Leu/c.847G>T|309|OR4C12|protein_coding|CODING|NM_001005270.4|1|1),,,,,0.4939,0.634,0.5924,0.52,0.35,0.60,,0.005557(N),1.000(P),1.39(T),0.0000(T),0.067,-1.678493,2.98,2.98,-2.258000,0.361000,-0.344000,0.578000,0.806000,0.000000,3.4896
missense_variant,OR4A5,MISSENSE,NM_001005272.3:p.Tyr161Cys/c.482A>G,tAc/tGc,MODERATE,,0.0429313,0.001,rs61890334,0.07(T),0.114(B),0.985(L),-1.0338(T),,chr11,51411914,51411914,T,C,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr161Cys/c.482A>G|315|OR4A5|protein_coding|CODING|NM_001005272.3|1|1),,,,,0.0327,0.0331,0.0606,0.06,0.05,0.06,,0.650442(N),1.000(N),8.74(T),0.0001(T),0.189,-0.256645,1.93,1.93,0.136000,1.143000,0.035000,0.221000,0.042000,0.000000,7.8263
missense_variant,OR4A5,MISSENSE,NM_001005272.3:p.Phe15Ile/c.43T>A,Ttt/Att,MODERATE,,0.0233626,0.001,rs61890335,0.04(D),0.064(B),1.045(L),-0.9649(T),,chr11,51412353,51412353,A,T,het,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe15Ile/c.43T>A|315|OR4A5|protein_coding|CODING|NM_001005272.3|1|1),,,,,0.0327,0.0274,0.0606,0.04,0.01,0.06,,0.083330(N),1.000(N),3.28(T),0.0017(T),0.067,-0.074063,2.01,1.07,0.136000,0.405000,-0.410000,0.056000,0.140000,0.000000,4.1548
missense_variant,OR4C46,MISSENSE,NM_001004703.1:p.Ser60Phe/c.179C>T,tCc/tTc,MODERATE,,0.238419,0.2272,rs11246606,1(T),0.0(B),-4.73(N),-0.9538(T),,chr11,51515460,51515460,C,T,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser60Phe/c.179C>T|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),H1ESC:H3K9me3,,,,0.363,0.2003,0.1561,0.18,0.21,0.17,,0.000419(N),0.984(P),5.69(T),0.0000(T),0.106,-1.951416,2.63,2.63,-1.611000,0.272000,4.214000,0.014000,0.862000,0.935000,6.1158
missense_variant,OR4C46,MISSENSE,NM_001004703.1:p.Ala89Thr/c.265G>A,Gcc/Acc,MODERATE,,0.043131,0.001,rs61890419,1(T),0.0(B),-1.725(N),-0.9624(T),,chr11,51515546,51515546,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala89Thr/c.265G>A|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),H1ESC:H3K9me3,,,,0.0327,0.0331,0.0606,0.06,0.05,0.06,,0.043050(N),1.000(N),6.82(T),0.0000(T),0.02,-2.842352,2.63,2.63,-1.616000,0.272000,0.241000,0.003000,0.004000,0.000000,6.1158
synonymous_variant,OR4C46,SILENT,NM_001004703.1:p.Phe105Phe/c.315C>T,ttC/ttT,LOW,,0.0233626,0.001,rs61890420,,,,,,chr11,51515596,51515596,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe105Phe/c.315C>T|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),H1ESC:H3K9me3,,,,0.0327,0.0274,0.0606,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,OR4C46,SILENT,NM_001004703.1:p.Leu183Leu/c.549C>G,ctC/ctG,LOW,,0.0419329,0.001,rs61890421,,,,,,chr11,51515830,51515830,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu183Leu/c.549C>G|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),H1ESC:H3K9me3,,,,0.0327,0.0331,0.0606,0.06,0.05,0.06,,,,,,,,,,,,,,,,
missense_variant,OR4C46,MISSENSE,NM_001004703.1:p.Leu185Ile/c.553C>A,Ctc/Atc,MODERATE,,0.0233626,0.001,rs61890422,0(D),0.913(D),2.21(M),-0.8931(T),,chr11,51515834,51515834,C,A,het,missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu185Ile/c.553C>A|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),H1ESC:H3K9me3,,,,0.0327,0.0274,0.0606,0.04,0.01,0.06,,0.000998(D),1.000(N),7.65(T),0.0003(T),0.127,1.233356,2.47,1.52,0.121000,1.433000,1.367000,0.010000,0.025000,0.408000,6.9482
missense_variant,OR4C46,MISSENSE,NM_001004703.1:p.Ser240Phe/c.719C>T,tCc/tTc,MODERATE,,0.433307,0.5427,rs11246607,0.01(D),0.68(P),3.045(M),-0.9026(T),,chr11,51516000,51516000,C,T,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser240Phe/c.719C>T|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),,,,,0.4059,0.5893,0.5467,0.45,0.26,0.55,,0.000373(D),0.917(P),1.1(T),0.0000(T),0.264,1.460606,2.33,2.33,0.121000,1.345000,5.273000,0.110000,0.439000,0.379000,10.4622
missense_variant,OR4C46,MISSENSE,NM_001004703.1:p.Cys252Tyr/c.755G>A,tGc/tAc,MODERATE,,0.4375,0.5427,rs11246608,0(D),0.991(D),2.63(M),-1.1132(T),,chr11,51516036,51516036,G,A,het,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys252Tyr/c.755G>A|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),,,,,0.4059,0.5908,0.5467,0.45,0.28,0.55,,0.000128(D),1.000(P),8.77(T),0.0000(T),0.191,-0.036573,2.47,2.47,0.121000,1.433000,0.197000,0.015000,0.070000,0.000000,5.3536
missense_variant,OR4C46,MISSENSE,NM_001004703.1:p.Lys288Arg/c.863A>G,aAg/aGg,MODERATE,,0.698083,0.7698,rs11246609,1(T),0.0(B),-1.26(N),-0.9525(T),,chr11,51516144,51516144,A,G,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys288Arg/c.863A>G|309|OR4C46|protein_coding|CODING|NM_001004703.1|1|1),,,,,0.7689,0.8012,0.7028,,,,,0.000850(N),1.000(P),1.4(T),0.0000(T),0.112,-2.625954,2.47,2.47,-1.730000,0.413000,5.005000,0.008000,0.250000,1.000000,7.4639
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Pro3Pro/c.9A>G,ccA/ccG,LOW,,,,rs76977601,,,,,,chr11,55110685,55110685,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3Pro/c.9A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ser5Asn/c.14G>A,aGc/aAc,MODERATE,,,,rs79323751,1(T),0.0(B),0.585(N),-1.0075(T),,chr11,55110690,55110690,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser5Asn/c.14G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),0.59(T),0.0678(T),0.169,-3.610870,2.41,0.00461,-1.774000,0.141000,.,0.005000,0.111000,.,5.7879
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Leu13Leu/c.39G>A,ctG/ctA,LOW,COSM330237(1),,,rs77981146,,,,,,chr11,55110715,55110715,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu13Leu/c.39G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Gln17Gln/c.51A>G,caA/caG,LOW,,,,rs75059670,,,,,,chr11,55110727,55110727,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln17Gln/c.51A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Val21Val/c.63G>A,gtG/gtA,LOW,COSM3869356(2),,,rs78513473,,,,,,chr11,55110739,55110739,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val21Val/c.63G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Lys22Gln/c.64A>C,Aaa/Caa,MODERATE,,,,rs77509752,1(T),0.001(B),-1.995(N),-0.9926(T),,chr11,55110740,55110740,A,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys22Gln/c.64A>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),8.52(T),0.0001(T),0.188,-3.695030,2.4,-1.41,-1.435000,-0.046000,-0.494000,0.002000,0.004000,0.000000,5.4257
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Thr24Ala/c.70A>G,Aca/Gca,MODERATE,,,,rs78377864,0.56(T),0.0(B),-0.02(N),-1.0435(T),,chr11,55110746,55110746,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr24Ala/c.70A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),7.44(T),0.0005(T),0.094,-1.555640,2.41,1.46,-1.091000,0.358000,-0.131000,0.010000,0.034000,0.000000,4.4532
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Phe29Val/c.85T>G,Ttt/Gtt,MODERATE,,,,rs76944329,0.03(D),0.077(B),2.305(M),-0.9613(T),,chr11,55110761,55110761,T,G,het,missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe29Val/c.85T>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),3.6(T),0.0180(T),0.484,-0.591426,2.4,1.17,0.147000,0.152000,-0.380000,0.011000,0.211000,0.000000,1.9795
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ile43Thr/c.128T>C,aTt/aCt,MODERATE,,0.00978435,0,rs202202418,0.04(D),0.259(B),2.305(M),-0.9534(T),,chr11,55110804,55110804,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile43Thr/c.128T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0072,0.0101,0.0149,,,,,,1.000(N),6.76(T),0.0021(T),0.575,-0.849540,2.41,1.22,0.155000,0.180000,2.908000,0.028000,0.272000,0.089000,5.5955
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Trp44Gly/c.130T>G,Tgg/Ggg,MODERATE,,,,rs200076303,0.04(D),0.0(B),-0.345(N),-0.9542(T),,chr11,55110806,55110806,T,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp44Gly/c.130T>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),6.94(T),0.0008(T),0.408,-1.608590,2.57,0.518,-2.432000,-0.005000,-0.632000,0.001000,0.010000,0.000000,8.336
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Thr47Thr/c.141T>C,acT/acC,LOW,,,,rs201128700,,,,,,chr11,55110817,55110817,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr47Thr/c.141T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Leu56Pro/c.167T>C,cTa/cCa,MODERATE,,,,rs199644874,1(T),0.0(B),-3.46(N),-1.1133(T),,chr11,55110843,55110843,T,C,het,missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu56Pro/c.167T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,0.996(D),10.38(T),0.0000(T),0.32,-2.607576,2.57,1.64,-0.968000,0.389000,2.909000,0.046000,0.896000,0.711000,7.7843
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Met57Val/c.169A>G,Atg/Gtg,MODERATE,COSM1127765(1),,,rs200889979,0.01(D),0.034(B),3.305(M),-1.0454(T),,chr11,55110845,55110845,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met57Val/c.169A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,0.570(N),2.99(T),0.0501(T),0.493,0.324873,2.57,2.57,0.346000,1.186000,5.813000,0.044000,0.942000,1.000000,8.6087
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ala62Asp/c.185C>A,gCc/gAc,MODERATE,,,,rs200705953,0.01(D),0.077(B),2.675(M),-1.0249(T),,chr11,55110861,55110861,C,A,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala62Asp/c.185C>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),5.34(T),0.0077(T),0.781,0.763658,2.57,2.57,0.423000,1.445000,0.053000,0.006000,0.839000,0.000000,7.4096
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Tyr63Tyr/c.189C>T,taC/taT,LOW,,,,rs187469362,,,,,,chr11,55110865,55110865,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr63Tyr/c.189C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Met67Ile/c.201G>A,atG/atA,MODERATE,,0.00499201,0,rs200261293,1(T),0.002(B),-0.6(N),-0.9126(T),,chr11,55110877,55110877,G,A,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met67Ile/c.201G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.002,0.0101,0.0089,0.00,0.00,0.00,,,1.000(N),4.14(T),0.0034(T),0.297,-3.061658,2.56,0.184,-1.534000,0.020000,-2.573000,0.002000,0.951000,0.000000,4.8012
stop_gained,OR4A16,NONSENSE,NM_001005274.1:p.Ser76*/c.227C>A,tCa/tAa,HIGH,,0.00698882,0,rs116924453,0.41(T),,,,,chr11,55110903,55110903,C,A,het,stop_gained(HIGH|NONSENSE|tCa/tAa|p.Ser76*/c.227C>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0082,0.0101,0.0099,,,,,,1.000(D),,,.,-0.127547,2.57,0.54,0.423000,0.000000,-0.318000,0.003000,0.001000,0.000000,4.9794
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ile81Thr/c.242T>C,aTa/aCa,MODERATE,,0.00878594,0,rs147641414,0.31(T),0.003(B),0.515(N),-0.9155(T),,chr11,55110918,55110918,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile81Thr/c.242T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0112,0.0144,0.0119,,,,,,1.000(N),5.57(T),0.0020(T),0.241,-1.395179,2.56,-2.32,0.341000,-0.635000,-7.289000,0.001000,0.003000,0.000000,0.7774
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Leu84Leu/c.252C>A,ctC/ctA,LOW,,0.00858626,0,rs150328499,,,,,,chr11,55110928,55110928,C,A,het,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu84Leu/c.252C>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0112,0.0101,0.0119,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Cys85Phe/c.254G>T,tGt/tTt,MODERATE,,0.00858626,0,rs142852989,0.69(T),0.009(B),-0.31(N),-0.9037(T),,chr11,55110930,55110930,G,T,het,missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys85Phe/c.254G>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0112,0.0101,0.0119,,,,,,1.000(N),4.14(T),0.0034(T),0.347,-2.335775,2.57,-3.11,0.423000,-0.380000,-0.580000,0.029000,0.093000,0.000000,1.4211
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Asp86Glu/c.258T>A,gaT/gaA,MODERATE,,,,rs142253044,1(T),0.003(B),-1.075(N),-0.9456(T),,chr11,55110934,55110934,T,A,het,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp86Glu/c.258T>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),4.75(T),0.0018(T),0.282,-3.070242,2.57,-5.15,-0.507000,-1.458000,-2.419000,0.025000,0.079000,0.000000,6.09
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ala89Thr/c.265G>A,Gct/Act,MODERATE,,,,rs147336887,1(T),0.0(B),-1.745(N),-0.9806(T),,chr11,55110941,55110941,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala89Thr/c.265G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),6.82(T),0.0004(T),0.268,-2.484515,2.57,2.57,-0.769000,0.236000,-0.197000,0.019000,0.183000,0.000000,5.9414
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Leu113Leu/c.337T>C,Ttg/Ctg,LOW,,0.034345,0.001,rs74777917,,,,,,chr11,55111013,55111013,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu113Leu/c.337T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0358,0.0259,0.0398,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Ala123Ala/c.369T>C,gcT/gcC,LOW,,,,rs79540892,,,,,,chr11,55111045,55111045,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala123Ala/c.369T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Pro127Pro/c.381G>A,ccG/ccA,LOW,,,,rs76791457,,,,,,chr11,55111057,55111057,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro127Pro/c.381G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Asn132Thr/c.395A>C,aAc/aCc,MODERATE,,,,rs76072904,1(T),0.0(B),-2.455(N),-0.9500(T),,chr11,55111071,55111071,A,C,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn132Thr/c.395A>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),2.17(T),0.0082(T),0.193,-2.698782,2.69,0.66,-0.840000,0.027000,-4.809000,0.301000,0.196000,0.000000,6.6439
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Asn132Asn/c.396C>T,aaC/aaT,LOW,,,,rs76425968,,,,,,chr11,55111072,55111072,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn132Asn/c.396C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Leu137Gln/c.410T>A,cTg/cAg,MODERATE,,,,rs78354885,0.83(T),0.003(B),0(N),-1.0003(T),,chr11,55111086,55111086,T,A,het,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu137Gln/c.410T>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),1.22(T),0.0309(T),0.19,-2.541719,2.69,-1.28,-2.168000,-0.456000,-2.859000,0.005000,0.000000,0.000000,2.94
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Met147Val/c.439A>G,Atg/Gtg,MODERATE,,0.0189696,0,rs78540024,0.06(T),0.002(B),-0.69(N),-1.0289(T),,chr11,55111115,55111115,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met147Val/c.439A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0123,0.013,0.0129,,,,,,1.000(N),1.28(T),0.0306(T),0.28,-1.093462,2.69,0.123,-2.526000,-0.127000,0.779000,0.000000,0.000000,0.001000,3.3463
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ile148Val/c.442A>G,Att/Gtt,MODERATE,,0.0189696,0,rs77255270,1(T),0.004(B),-0.17(N),-0.9901(T),,chr11,55111118,55111118,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile148Val/c.442A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0123,0.013,0.0129,,,,,,1.000(N),1.22(T),0.0334(T),0.096,-3.668777,2.69,-0.492,-1.630000,-0.238000,-3.331000,0.001000,0.005000,0.000000,8.8228
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Leu161Val/c.481C>G,Ctg/Gtg,MODERATE,,,,rs75280282,1(T),0.002(B),-0.315(N),-1.0448(T),,chr11,55111157,55111157,C,G,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu161Val/c.481C>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),8.75(T),0.0000(T),0.108,-3.698747,2.69,0.73,-0.567000,0.463000,-0.198000,0.005000,0.004000,0.000000,5.3192
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ile166Phe/c.496A>T,Atc/Ttc,MODERATE,,,,rs80108485,1(T),0.0(B),-3.575(N),-0.9135(T),,chr11,55111172,55111172,A,T,het,missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile166Phe/c.496A>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),8.89(T),0.0001(T),0.305,-2.650857,2.69,2.69,-0.769000,0.272000,0.868000,0.004000,0.005000,0.049000,6.3543
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Val171Val/c.513T>C,gtT/gtC,LOW,,,,rs77880899,,,,,,chr11,55111189,55111189,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val171Val/c.513T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ser175Phe/c.524C>T,tCt/tTt,MODERATE,,,,rs75654702,1(T),0.0(B),-3.98(N),-0.8488(T),,chr11,55111200,55111200,C,T,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser175Phe/c.524C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),9.54(T),0.0000(T),0.358,-3.402311,2.54,2.54,-0.769000,0.223000,-0.134000,0.019000,0.417000,0.000000,5.9019
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Leu182Leu/c.546G>A,ttG/ttA,LOW,,0.04373,0.001,rs7121804,,,,,,chr11,55111222,55111222,G,A,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu182Leu/c.546G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0389,0.0317,0.0596,0.06,0.06,0.06,,,,,,,,,,,,,,,,
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Leu183Leu/c.549G>A,ttG/ttA,LOW,,,,rs78991953,,,,,,chr11,55111225,55111225,G,A,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu183Leu/c.549G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Leu188Ile/c.562C>A,Ctt/Att,MODERATE,,0.414537,0.5387,rs11229158,0.08(T),0.0(B),-0.635(N),-0.9947(T),,chr11,55111238,55111238,C,A,het,missense_variant(MODERATE|MISSENSE|Ctt/Att|p.Leu188Ile/c.562C>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.4151,0.5548,0.494,0.40,0.23,0.49,,,1.000(P),8.7(T),0.0000(T),0.1,-0.407234,2.54,-0.125,-1.224000,-0.174000,-1.795000,0.006000,0.895000,0.000000,3.4202
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Leu188Pro/c.563T>C,cTt/cCt,MODERATE,,,,rs76416749,0(D),0.032(B),0.55(N),-1.0989(T),,chr11,55111239,55111239,T,C,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu188Pro/c.563T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,0.837(N),8.68(T),0.0003(T),0.409,-0.270295,2.54,1.61,-0.968000,0.372000,-1.262000,0.010000,0.911000,0.000000,7.7317
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Gly194Gly/c.582A>C,ggA/ggC,LOW,,,,rs75433926,,,,,,chr11,55111258,55111258,A,C,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly194Gly/c.582A>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ile203Thr/c.608T>C,aTa/aCa,MODERATE,,,,rs149774017,0.39(T),0.004(B),0.565(N),-1.0239(T),,chr11,55111284,55111284,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile203Thr/c.608T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),1.12(T),0.0540(T),0.155,-1.749518,2.54,-0.547,-0.968000,-0.010000,-1.082000,0.012000,0.224000,0.000000,5.1968
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Met206Thr/c.617T>C,aTg/aCg,MODERATE,,,,rs78534550,0.58(T),0.004(B),0.095(N),-0.9946(T),,chr11,55111293,55111293,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met206Thr/c.617T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),1.24(T),0.0377(T),0.366,-2.965100,2.54,0.156,-0.800000,0.220000,-0.009000,0.001000,0.059000,0.000000,5.6409
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ile208Val/c.622A>G,Atc/Gtc,MODERATE,,,,rs79376849,0.68(T),0.02(B),0.95(L),-0.9867(T),,chr11,55111298,55111298,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile208Val/c.622A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),1.26(T),0.0466(T),0.158,-3.106212,2.54,-1.49,-1.630000,-0.492000,-0.717000,0.001000,0.001000,0.000000,4.1873
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Leu213Leu/c.637C>T,Cta/Tta,LOW,,,,rs200720954,,,,,,chr11,55111313,55111313,C,T,het,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu213Leu/c.637C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Val218Ile/c.652G>A,Gtc/Atc,MODERATE,,,,,0.38(T),0.075(B),1.485(L),-1.1060(T),,chr11,55111328,55111328,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val218Ile/c.652G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),8.74(T),0.0004(T),0.18,-1.516342,2.54,-1.8,-2.077000,-0.692000,-0.014000,0.028000,0.332000,0.000000,7.5618
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Phe222Ser/c.665T>C,tTc/tCc,MODERATE,COSM3935495(1),,,,1(T),0.001(B),-0.205(N),-1.0614(T),,chr11,55111341,55111341,T,C,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe222Ser/c.665T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),8.76(T),0.0002(T),0.223,-3.284644,2.33,1.39,-0.968000,0.286000,0.257000,0.016000,0.017000,0.000000,7.3824
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Tyr226Tyr/c.678C>T,taC/taT,LOW,,,,rs75076309,,,,,,chr11,55111354,55111354,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr226Tyr/c.678C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Glu230Gly/c.689A>G,gAg/gGg,MODERATE,,,,rs75741638,1(T),0.0(B),-2.65(N),-0.8973(T),,chr11,55111365,55111365,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu230Gly/c.689A>G|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),9.2(T),0.0000(T),0.219,-3.066482,2.54,-1.2,-1.979000,-0.337000,0.110000,0.043000,0.789000,0.000000,1.2922
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Pro236Ser/c.706C>T,Cct/Tct,MODERATE,,,,rs78913302,1(T),0.0(B),-3.815(N),-0.8708(T),,chr11,55111382,55111382,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro236Ser/c.706C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),9.34(T),0.0000(T),0.28,-2.773324,2.54,2.54,-0.769000,0.223000,0.179000,0.269000,0.983000,0.000000,5.9019
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Ile243Ile/c.729T>C,atT/atC,LOW,,,,rs78131590,,,,,,chr11,55111405,55111405,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile243Ile/c.729T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Val244Met/c.730G>A,Gtg/Atg,MODERATE,,,,rs76998459,0.02(D),0.702(P),3.695(H),-1.0990(T),,chr11,55111406,55111406,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val244Met/c.730G>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),8.34(T),0.0027(T),0.499,-0.597394,2.86,1.94,-0.493000,0.543000,0.505000,0.088000,0.218000,0.000000,7.9517
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ala246Val/c.737C>T,gCc/gTc,MODERATE,,,,rs74668728,1(T),0.002(B),-1.265(N),-0.9691(T),,chr11,55111413,55111413,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala246Val/c.737C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),1.52(T),0.0169(T),0.269,-2.889533,2.86,1.69,-1.290000,0.278000,-0.921000,0.155000,0.727000,0.000000,3.5154
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Val248Phe/c.742G>T,Gtt/Ttt,MODERATE,,,,rs141537673,1(T),0.0(B),-3.775(N),-0.8887(T),,chr11,55111418,55111418,G,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val248Phe/c.742G>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,1.000(N),9.21(T),0.0000(T),0.295,-2.336355,2.86,2.86,-1.126000,0.315000,1.240000,0.284000,0.530000,0.004000,7.4106
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Phe254Phe/c.762T>C,ttT/ttC,LOW,,,,rs189929394,,,,,,chr11,55111438,55111438,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe254Phe/c.762T>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4A16,SILENT,NM_001005274.1:p.Pro259Pro/c.777C>T,ccC/ccT,LOW,,0.00259585,0.001,rs79231280,,,,,,chr11,55111453,55111453,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro259Pro/c.777C>T|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.0031,0.0014,0.006,,,,,,,,,,,,,,,,,,,
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Leu268Phe/c.804A>C,ttA/ttC,MODERATE,,,,rs78322774,0.61(T),0.002(B),0.285(N),-1.1258(T),,chr11,55111480,55111480,A,C,het,missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu268Phe/c.804A>C|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,,,,0.00,0.00,0.00,,,1.000(N),8.66(T),0.0002(T),0.153,-2.699709,2.65,-3.75,-0.485000,-0.998000,-6.709000,0.076000,0.001000,0.000000,4.0228
missense_variant,OR4A16,MISSENSE,NM_001005274.1:p.Ser274Thr/c.820T>A,Tca/Aca,MODERATE,,0.00978435,0,rs75584132,1(T),0.002(B),-2.055(N),-1.0058(T),,chr11,55111496,55111496,T,A,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser274Thr/c.820T>A|328|OR4A16|protein_coding|CODING|NM_001005274.1|1|1),,,,,0.002,0.0014,0.006,0.00,0.00,0.00,,,1.000(N),8.96(T),0.0001(T),0.23,-2.700311,2.86,2.86,-0.759000,0.322000,1.531000,0.098000,0.051000,0.004000,6.5796
synonymous_variant,OR4A15,SILENT,NM_001005275.1:p.Ile110Ile/c.330T>A,atT/atA,LOW,,0.0239617,0.001,rs61916184,,,,,,chr11,55135689,55135689,T,A,het,synonymous_variant(LOW|SILENT|atT/atA|p.Ile110Ile/c.330T>A|344|OR4A15|protein_coding|CODING|NM_001005275.1|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,OR4A15,MISSENSE,NM_001005275.1:p.Ala287Val/c.860C>T,gCa/gTa,MODERATE,,0.0239617,0.001,rs7927370,0.97(T),0.015(B),-0.77(N),-1.0136(T),,chr11,55136219,55136219,C,T,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala287Val/c.860C>T|344|OR4A15|protein_coding|CODING|NM_001005275.1|1|1),,Systemic_lupus_erythematosus,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,0.382724(N),1.000(N),1.29(T),0.0031(T),0.052,-1.000519,3.65,-1.99,0.492000,-0.361000,-0.205000,0.090000,0.001000,0.000000,7.5528
missense_variant,OR4C15,MISSENSE,NM_001001920.1:p.Leu14His/c.41T>A,cTt/cAt,MODERATE,,0.0239617,0.001,rs17581532,0(D),,,-1.0972(T),,chr11,55321823,55321823,T,A,het,missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu14His/c.41T>A|370|OR4C15|protein_coding|CODING|NM_001001920.1|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,,1.000(N),9.58(T),0.0000(T),0.018,0.053410,3.15,-0.771,-1.273000,-0.492000,-3.808000,0.027000,0.000000,0.000000,0.3459
missense_variant,OR4C15,MISSENSE,NM_001001920.1:p.Ala106Asp/c.317C>A,gCt/gAt,MODERATE,,0.0239617,0.001,rs17496724,0(D),0.467(P),1.975(M),-0.9746(T),,chr11,55322099,55322099,C,A,het,missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala106Asp/c.317C>A|370|OR4C15|protein_coding|CODING|NM_001001920.1|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,,1.000(N),5.36(T),0.0011(T),0.202,2.186700,4.79,4.79,0.385000,2.665000,-0.885000,0.191000,0.765000,0.000000,15.7279
missense_variant,OR4C15,MISSENSE,NM_001001920.1:p.Leu214Ile/c.640C>A,Ctt/Att,MODERATE,,0.0239617,0.001,rs74331841,0.25(T),0.006(B),0.655(N),-1.0595(T),,chr11,55322422,55322422,C,A,het,missense_variant(MODERATE|MISSENSE|Ctt/Att|p.Leu214Ile/c.640C>A|370|OR4C15|protein_coding|CODING|NM_001001920.1|1|1),H1ESC:H3K9me3,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,,1.000(N),1.12(T),0.0076(T),0.05,-0.034315,5.02,0.761,0.385000,0.659000,-3.293000,0.157000,0.758000,0.000000,2.7427
missense_variant,OR4C15,MISSENSE,NM_001001920.1:p.Asn228His/c.682A>C,Aat/Cat,MODERATE,,0.0239617,0.001,rs61919569,0(D),0.866(P),1.305(L),-0.7903(T),,chr11,55322464,55322464,A,C,het,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn228His/c.682A>C|370|OR4C15|protein_coding|CODING|NM_001001920.1|1|1),H1ESC:H3K9me3,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,,1.000(N),8.79(T),0.0001(T),0.058,1.353201,5.02,4.11,-0.565000,1.355000,-1.106000,0.044000,0.378000,0.000000,11.3055
synonymous_variant,OR4C15,SILENT,NM_001001920.1:p.Pro236Pro/c.708G>A,ccG/ccA,LOW,,0.0241613,0.001,rs61919570,,,,,,chr11,55322490,55322490,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro236Pro/c.708G>A|370|OR4C15|protein_coding|CODING|NM_001001920.1|1|1),H1ESC:H3K9me3,,,,0.0389,0.0274,0.0596,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,OR4C15,MISSENSE,NM_001001920.1:p.Leu275Ser/c.824T>C,tTg/tCg,MODERATE,,0.0239617,0.001,rs17581700,0(D),0.993(D),3.255(M),-0.9807(T),,chr11,55322606,55322606,T,C,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu275Ser/c.824T>C|370|OR4C15|protein_coding|CODING|NM_001001920.1|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,,1.000(N),8.47(T),0.0003(T),0.439,2.324266,5.02,5.02,0.317000,2.107000,-0.119000,0.535000,0.921000,0.000000,12.7227
missense_variant,OR4C16,MISSENSE,NM_001004701.2:p.Leu34Trp/c.101T>G,tTg/tGg,MODERATE,,0.0239617,0.001,rs78612916,0(D),0.91(D),3.455(M),-1.1194(T),,chr11,55339704,55339704,T,G,het,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu34Trp/c.101T>G|310|OR4C16|protein_coding|CODING|NM_001004701.2|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,0.545902(N),1.000(N),2.26(T),0.0202(T),0.207,2.834998,4.98,2.58,0.448000,0.918000,1.171000,0.003000,0.002000,0.001000,8.1893
synonymous_variant,OR4C16,SILENT,NM_001004701.2:p.Leu37Leu/c.109C>T,Ctg/Ttg,LOW,,0.0239617,0.001,rs75881957,,,,,,chr11,55339712,55339712,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu37Leu/c.109C>T|310|OR4C16|protein_coding|CODING|NM_001004701.2|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,OR4C16,MISSENSE,NM_001004701.2:p.Ser46Thr/c.137G>C,aGt/aCt,MODERATE,,0.0239617,0.001,rs80210585,1(T),0.0(B),-1.76(N),-0.9384(T),,chr11,55339740,55339740,G,C,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser46Thr/c.137G>C|310|OR4C16|protein_coding|CODING|NM_001004701.2|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,0.000003(N),1.000(N),4.07(T),0.0003(T),0.028,-1.339731,4.98,3.11,-1.045000,0.300000,-0.054000,0.001000,0.003000,0.000000,2.1446
missense_variant,OR4C16,MISSENSE,NM_001004701.2:p.Thr76Ala/c.226A>G,Acc/Gcc,MODERATE,,0.891374,1,rs557590,1(T),0.0(B),-0.39(N),-0.9683(T),,chr11,55339829,55339829,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr76Ala/c.226A>G|310|OR4C16|protein_coding|CODING|NM_001004701.2|1|1),,,,,0.9877,0.9294,0.8917,0.84,0.74,0.89,,0.000208(N),1.000(P),4.1(T),0.0000(T),0.055,-1.684535,4.98,3.07,-0.231000,0.715000,-3.439000,0.577000,0.227000,0.000000,7.2179
missense_variant,OR4C16,MISSENSE,NM_001004701.2:p.Glu189Asp/c.567A>C,gaA/gaC,MODERATE,,0.0239617,0.001,rs61916568,1(T),0.0(B),-2.63(N),-0.9069(T),,chr11,55340170,55340170,A,C,het,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu189Asp/c.567A>C|310|OR4C16|protein_coding|CODING|NM_001004701.2|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,0.000002(N),1.000(N),9.0(T),0.0000(T),0.045,-1.829150,4.98,-0.214,-0.232000,-0.454000,-1.689000,0.256000,0.003000,0.000000,5.2477
missense_variant,OR4C16,MISSENSE,NM_001004701.2:p.Leu259Pro/c.776T>C,cTt/cCt,MODERATE,,0.478834,0.5446,rs559449,1(T),0.0(B),-3.15(N),-1.0116(T),,chr11,55340379,55340379,T,C,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu259Pro/c.776T>C|310|OR4C16|protein_coding|CODING|NM_001004701.2|1|1),,,,,0.455,0.5951,0.5547,0.48,0.35,0.55,,0.000009(N),0.812(P),9.17(T),0.0000(T),0.118,-1.951729,4.68,4.68,-0.231000,1.222000,0.668000,0.077000,0.339000,0.002000,10.8556
missense_variant,OR4C16,MISSENSE,NM_001004701.2:p.Lys288Arg/c.863A>G,aAg/aGg,MODERATE,,0.0239617,0.001,rs56111016,1(T),0.0(B),-0.865(N),-0.9927(T),,chr11,55340466,55340466,A,G,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys288Arg/c.863A>G|310|OR4C16|protein_coding|CODING|NM_001004701.2|1|1),,,,,0.0389,0.0259,0.0596,0.04,0.01,0.06,,0.000003(N),1.000(N),1.4(T),0.0032(T),0.066,-2.496328,4.68,2.79,-0.231000,0.222000,3.097000,0.051000,0.024000,0.997000,6.5047
missense_variant,OR4C11,MISSENSE,NM_001004700.2:p.Ser240Thr/c.718T>A,Tct/Act,MODERATE,,0.0295527,0.001,rs7114415,0.01(D),0.036(B),3.345(M),-0.9117(T),,chr11,55371132,55371132,A,T,het,missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser240Thr/c.718T>A|310|OR4C11|protein_coding|CODING|NM_001004700.2|1|1),,,,,0.046,0.0317,0.0765,0.06,0.01,0.08,,0.000184(U),1.000(P),1.1(T),0.0128(T),0.092,0.150298,4.34,3.16,0.391000,0.770000,1.408000,0.008000,0.001000,0.754000,9.3109
missense_variant,OR4C11,MISSENSE,NM_001004700.2:p.Pro8Thr/c.22C>A,Cct/Act,MODERATE,,0.0599042,0.001,rs491160,1(T),0.0(B),-2.61(N),-1.0518(T),,chr11,55371828,55371828,G,T,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro8Thr/c.22C>A|310|OR4C11|protein_coding|CODING|NM_001004700.2|1|1),,,,,0.046,0.0403,0.0765,0.09,0.09,0.08,,0.036388(N),1.000(P),6.34(T),0.0000(T),0.033,-2.348459,4.43,4.43,-0.382000,0.852000,0.923000,0.080000,0.007000,0.017000,9.7112
missense_variant,OR4P4,MISSENSE,NM_001004124.1:p.Arg231Cys/c.691C>T,Cgc/Tgc,MODERATE,,0.0297524,0.002,rs61896975,0(D),0.219(B),3.355(M),-0.9801(T),,chr11,55406524,55406524,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg231Cys/c.691C>T|312|OR4P4|protein_coding|CODING|NM_001004124.1|1|1),,,,,0.046,0.0317,0.0765,0.06,0.01,0.08,,0.021468(N),1.000(P),8.05(T),0.0001(T),0.1,0.460070,5.51,-1.54,-0.154000,0.032000,-3.601000,0.004000,0.000000,0.000000,4.5292
missense_variant,OR4S2,MISSENSE,NM_001004059.2:p.Val195Gly/c.584T>G,gTt/gGt,MODERATE,,0.0295527,0.001,rs7949664,0(D),0.009(B),2.38(M),-1.0252(T),,chr11,55418963,55418963,T,G,het,missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val195Gly/c.584T>G|311|OR4S2|protein_coding|CODING|NM_001004059.2|1|1),,,,,0.046,0.0317,0.0765,0.06,0.01,0.08,,0.360116(N),1.000(P),8.56(T),0.0000(T),0.243,0.291760,5.24,2.9,-0.474000,0.310000,-0.164000,0.213000,0.793000,0.000000,6.87
missense_variant,OR5D13,MISSENSE,NM_001001967.1:p.Cys62Tyr/c.185G>A,tGc/tAc,MODERATE,,0.971246,1,rs297118,1(T),0.0(B),-3.86(N),-1.0137(T),,chr11,55541098,55541098,G,A,hom,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys62Tyr/c.185G>A|314|OR5D13|protein_coding|CODING|NM_001001967.1|1|1),,,,,1,0.9899,0.999,0.97,0.92,1.00,,0.007999(N),1.000(P),6.31(T),0.0000(T),0.064,-1.705967,3.34,3.34,-0.586000,0.480000,2.949000,0.117000,0.994000,0.990000,7.8948
missense_variant,OR5D13,MISSENSE,NM_001001967.1:p.Arg236Leu/c.707G>T,cGc/cTc,MODERATE,,0.0245607,0.001,rs7124871,0.03(D),0.017(B),2.23(M),-0.9285(T),,chr11,55541620,55541620,G,T,het,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg236Leu/c.707G>T|314|OR5D13|protein_coding|CODING|NM_001001967.1|1|1),,,,,0.0389,0.0259,0.0616,0.04,0.01,0.06,,0.614455(U),1.000(N),8.08(T),0.0001(T),0.065,1.382164,3.82,2.85,0.486000,0.679000,-0.634000,0.008000,0.000000,0.000000,6.2567
missense_variant,OR5D14,MISSENSE,NM_001004735.1:p.Ala244Thr/c.730G>A,Gcc/Acc,MODERATE,,0.0245607,0.001,rs61896309,0.08(T),0.344(B),1.91(M),-1.0411(T),,chr11,55563761,55563761,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala244Thr/c.730G>A|314|OR5D14|protein_coding|CODING|NM_001004735.1|1|1),,,,,0.0389,0.0259,0.0616,0.04,0.01,0.06,,0.013045(N),0.962(N),1.23(T),0.0168(T),0.057,1.517402,5.08,4.17,0.643000,1.142000,0.254000,0.207000,0.997000,0.000000,8.5647
missense_variant,OR5D14,MISSENSE,NM_001004735.1:p.Ser249Ala/c.745T>G,Tct/Gct,MODERATE,,0.970647,1,rs297054,1(T),0.0(B),-2.045(N),-0.9993(T),,chr11,55563776,55563776,T,G,hom,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser249Ala/c.745T>G|314|OR5D14|protein_coding|CODING|NM_001004735.1|1|1),,,,,0.999,0.9885,1,0.97,0.92,1.00,,0.000586(N),1.000(P),8.86(T),0.0000(T),0.033,-2.569484,5.08,1.17,-1.605000,-0.254000,0.372000,0.013000,0.085000,0.000000,5.4349
missense_variant,OR5D14,MISSENSE,NM_001004735.1:p.Thr272Lys/c.815C>A,aCa/aAa,MODERATE,,0.0245607,0.001,rs61896310,0.05(D),0.152(B),0.075(N),-1.0154(T),,chr11,55563846,55563846,C,A,het,missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr272Lys/c.815C>A|314|OR5D14|protein_coding|CODING|NM_001004735.1|1|1),,,,,0.0389,0.0259,0.0616,0.04,0.01,0.06,,0.010472(N),1.000(N),8.73(T),0.0000(T),0.164,1.419629,5.08,0.721,0.643000,0.156000,-3.087000,0.847000,0.009000,0.000000,1.9601
missense_variant,OR5D14,MISSENSE,NM_001004735.1:p.Leu290Pro/c.869T>C,cTg/cCg,MODERATE,COSM147204(2),0.216853,0.1458,rs297055,0(D),0.491(P),3.11(M),-1.0223(T),,chr11,55563900,55563900,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu290Pro/c.869T>C|314|OR5D14|protein_coding|CODING|NM_001004735.1|1|1),,,,,0.1288,0.1844,0.2525,0.28,0.32,0.26,,0.003382(N),0.998(P),0.87(T),0.0000(T),0.499,2.420915,5.08,5.08,0.523000,1.916000,3.008000,0.991000,1.000000,0.122000,13.7086
synonymous_variant,OR5D18,SILENT,NM_001001952.1:p.Thr4Thr/c.12T>A,acT/acA,LOW,,0.996605,1,rs297082,,,,,,chr11,55587117,55587117,T,A,hom,synonymous_variant(LOW|SILENT|acT/acA|p.Thr4Thr/c.12T>A|313|OR5D18|protein_coding|CODING|NM_001001952.1|1|1),,,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,OR5D18,MISSENSE,NM_001001952.1:p.Tyr36Cys/c.107A>G,tAc/tGc,MODERATE,,0.0245607,0.001,rs7948629,0(D),0.999(D),3.33(M),-1.1186(T),,chr11,55587212,55587212,A,G,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr36Cys/c.107A>G|313|OR5D18|protein_coding|CODING|NM_001001952.1|1|1),,,,,0.0389,0.0259,0.0616,0.04,0.01,0.06,,0.003044(N),1.000(N),3.57(T),0.0086(T),0.204,2.437675,4.79,3.64,0.514000,0.801000,2.534000,0.859000,0.157000,0.971000,10.1492
missense_variant,OR5D18,MISSENSE,NM_001001952.1:p.Asn136Asp/c.406A>G,Aac/Gac,MODERATE,,0.996605,1,rs297081,0.06(T),0.002(B),0.46(N),-1.0594(T),,chr11,55587511,55587511,A,G,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn136Asp/c.406A>G|313|OR5D18|protein_coding|CODING|NM_001001952.1|1|1),,,,,1,1,1,1.00,0.99,1.00,,0.141265(N),1.000(P),2.14(T),0.0000(T),0.007,0.103976,4.84,1.9,-1.428000,0.229000,-1.171000,0.099000,0.000000,0.000000,5.278
synonymous_variant,OR5L2,SILENT,NM_001004739.1:p.Pro129Pro/c.387C>T,ccC/ccT,LOW,,0.110423,0.001,rs7102394,,,,,,chr11,55595081,55595081,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro129Pro/c.387C>T|311|OR5L2|protein_coding|CODING|NM_001004739.1|1|1),,,,,0.0143,0.0865,0.1302,0.18,0.25,0.14,,,,,,,,,,,,,,,,
synonymous_variant,OR5L2,SILENT,NM_001004739.1:p.Thr210Thr/c.630C>T,acC/acT,LOW,COSM4145817(1),0.110024,0,rs7102663,,,,,,chr11,55595324,55595324,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr210Thr/c.630C>T|311|OR5L2|protein_coding|CODING|NM_001004739.1|1|1),,,,,0.0143,0.0865,0.1302,0.18,0.26,0.14,,,,,,,,,,,,,,,,
synonymous_variant,OR5D16,SILENT,NM_001005496.1:p.Leu25Leu/c.75G>T,ctG/ctT,LOW,COSM3752462(1),0.673123,0.7718,rs6591699,,,,,,chr11,55606302,55606302,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu25Leu/c.75G>T|328|OR5D16|protein_coding|CODING|NM_001005496.1|1|1),,,,,0.7065,0.683,0.6163,0.63,0.63,0.63,,,,,,,,,,,,,,,,
missense_variant,OR5D16,MISSENSE,NM_001005496.1:p.Ala156Thr/c.466G>A,Gca/Aca,MODERATE,,0.114018,0,rs6591700,0.19(T),0.035(B),0.555(N),-0.9606(T),,chr11,55606693,55606693,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala156Thr/c.466G>A|328|OR5D16|protein_coding|CODING|NM_001005496.1|1|1),,,,,0.0143,0.0879,0.1302,0.18,0.26,0.14,,,1.000(P),1.14(T),0.0000(T),0.017,1.282917,4.47,-2.16,-0.352000,-0.358000,-2.639000,0.007000,0.000000,0.000000,6.6069
missense_variant,OR5D16,MISSENSE,NM_001005496.1:p.Ser277Phe/c.830C>T,tCt/tTt,MODERATE,,0.0319489,0.001,rs61896326,0(D),0.972(D),3.415(M),-0.9301(T),,chr11,55607057,55607057,C,T,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser277Phe/c.830C>T|328|OR5D16|protein_coding|CODING|NM_001005496.1|1|1),,,,,0.0419,0.0331,0.0905,0.06,0.01,0.08,,,1.000(N),8.35(T),0.0001(T),0.275,1.446491,4.43,0.459,0.537000,-0.011000,0.674000,0.105000,0.000000,0.000000,5.5736
missense_variant,OR5W2,MISSENSE,NM_001001960.1:p.Leu304Val/c.910C>G,Ctg/Gtg,MODERATE,,0.0321486,0.001,rs62639688,0.94(T),0.008(B),0.255(N),-1.0576(T),,chr11,55681149,55681149,G,C,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu304Val/c.910C>G|310|OR5W2|protein_coding|CODING|NM_001001960.1|1|1),,,,,0.0419,0.0331,0.0905,0.06,0.01,0.08,,0.824721(N),1.000(N),1.0(T),0.0019(T),0.085,-1.493482,5.01,-2.85,-1.146000,-0.601000,-2.704000,0.522000,0.001000,0.000000,2.2493
synonymous_variant,OR5W2,SILENT,NM_001001960.1:p.Cys241Cys/c.723C>T,tgC/tgT,LOW,COSM3752467(1),0.263578,0.1438,rs11231529,,,,,,chr11,55681336,55681336,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys241Cys/c.723C>T|310|OR5W2|protein_coding|CODING|NM_001001960.1|1|1),,,,,0.1779,0.3112,0.329,0.36,0.37,0.35,,,,,,,,,,,,,,,,
synonymous_variant,OR5W2,SILENT,NM_001001960.1:p.Ile228Ile/c.684A>C,atA/atC,LOW,,0.0321486,0.001,rs17511601,,,,,,chr11,55681375,55681375,T,G,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile228Ile/c.684A>C|310|OR5W2|protein_coding|CODING|NM_001001960.1|1|1),,,,,0.0419,0.0331,0.0905,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5W2,MISSENSE,NM_001001960.1:p.Phe215Leu/c.643T>C,Ttc/Ctc,MODERATE,,0.0329473,0.003,rs17596422,1(T),0.001(B),-2.04(N),-0.9686(T),,chr11,55681416,55681416,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe215Leu/c.643T>C|310|OR5W2|protein_coding|CODING|NM_001001960.1|1|1),,,,,0.0419,0.0331,0.0905,0.06,0.02,0.08,,0.205437(N),1.000(N),9.09(T),0.0000(T),0.037,-0.750051,5.0,4.08,-0.263000,0.514000,-0.530000,0.718000,0.004000,0.000000,5.0777
missense_variant,OR5W2,MISSENSE,NM_001001960.1:p.Arg189Cys/c.565C>T,Cgc/Tgc,MODERATE,,0.999002,1,rs2457239,1(T),0.0(B),-3.48(N),-0.9250(T),,chr11,55681494,55681494,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg189Cys/c.565C>T|310|OR5W2|protein_coding|CODING|NM_001001960.1|1|1),,,,,1,1,1,1.00,1.00,1.00,,0.000503(N),1.000(P),10.22(T),0.0000(T),0.149,-1.197044,5.0,5.0,-0.442000,0.736000,5.202000,0.225000,0.069000,0.972000,9.1416
missense_variant,OR5W2,MISSENSE,NM_001001960.1:p.Met160Thr/c.479T>C,aTg/aCg,MODERATE,,0.0321486,0.001,rs17596519,1(T),0.0(B),-2.855(N),-0.9126(T),,chr11,55681580,55681580,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met160Thr/c.479T>C|310|OR5W2|protein_coding|CODING|NM_001001960.1|1|1),,,,,0.0419,0.0331,0.0905,0.06,0.02,0.08,,0.000841(N),1.000(N),9.11(T),0.0000(T),0.116,-2.996641,5.01,4.09,-0.231000,0.527000,0.339000,0.008000,0.008000,0.000000,4.9705
missense_variant,OR5W2,MISSENSE,NM_001001960.1:p.Phe39Leu/c.117C>A,ttC/ttA,MODERATE,,0.0321486,0.001,rs17511797,1(T),0.0(B),-2.345(N),-0.9128(T),,chr11,55681942,55681942,G,T,het,missense_variant(MODERATE|MISSENSE|ttC/ttA|p.Phe39Leu/c.117C>A|310|OR5W2|protein_coding|CODING|NM_001001960.1|1|1),,,,,0.0419,0.0331,0.0905,0.06,0.02,0.08,,0.519912(N),1.000(N),8.26(T),0.0000(T),0.046,-1.448949,5.01,-10.0,-2.839000,-3.259000,-1.651000,0.001000,0.000000,0.000000,3.8009
missense_variant,OR5I1,MISSENSE,NM_006637.1:p.Val306Ile/c.916G>A,Gtt/Att,MODERATE,,0.0341454,0.001,rs9665861,0.62(T),0.001(B),0.35(N),-1.0154(T),,chr11,55702961,55702961,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val306Ile/c.916G>A|314|OR5I1|protein_coding|CODING|NM_006637.1|1|1),,,,,0.0419,0.0346,0.0905,0.06,0.02,0.08,,0.968070(N),1.000(N),1.25(T),0.0022(T),0.025,-1.372901,4.96,3.09,0.643000,0.602000,.,0.031000,0.001000,.,5.0026
synonymous_variant,OR5I1,SILENT,NM_006637.1:p.Pro289Pro/c.867G>T,ccG/ccT,LOW,,0.0319489,0.001,rs9665863,,,,,,chr11,55703010,55703010,C,A,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro289Pro/c.867G>T|314|OR5I1|protein_coding|CODING|NM_006637.1|1|1),,,,,0.0419,0.0331,0.0905,0.06,0.01,0.08,,,,,,,,,,,,,,,,
synonymous_variant,OR5I1,SILENT,NM_006637.1:p.Ile210Ile/c.630C>T,atC/atT,LOW,,0.168331,0.0913,rs4465383,,,,,,chr11,55703247,55703247,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile210Ile/c.630C>T|314|OR5I1|protein_coding|CODING|NM_006637.1|1|1),,,,,0.1145,0.0893,0.1849,0.19,0.25,0.16,,,,,,,,,,,,,,,,
missense_variant,OR5I1,MISSENSE,NM_006637.1:p.Phe76Ser/c.227T>C,tTc/tCc,MODERATE,,0.0349441,0.001,rs9666086,1(T),0.0(B),-3.625(N),-0.9174(T),,chr11,55703650,55703650,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe76Ser/c.227T>C|314|OR5I1|protein_coding|CODING|NM_006637.1|1|1),,,,,0.0419,0.0346,0.0905,0.06,0.02,0.08,,0.000289(N),1.000(N),9.24(T),0.0000(T),0.101,-1.292521,5.05,5.05,-0.154000,1.255000,0.192000,0.514000,0.193000,0.000000,11.9859
synonymous_variant,OR5I1,SILENT,NM_006637.1:p.Tyr37Tyr/c.111T>C,taT/taC,LOW,,0.0349441,0.001,rs17597589,,,,,,chr11,55703766,55703766,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr37Tyr/c.111T>C|314|OR5I1|protein_coding|CODING|NM_006637.1|1|1),,,,,0.0419,0.0346,0.0905,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5I1,MISSENSE,NM_006637.1:p.Arg6Gly/c.16A>G,Aga/Gga,MODERATE,,0.0355431,0.001,rs17597625,0.5(T),0.0(B),-0.57(N),-0.8777(T),,chr11,55703861,55703861,T,C,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg6Gly/c.16A>G|314|OR5I1|protein_coding|CODING|NM_006637.1|1|1),,,,,0.045,0.0346,0.0905,0.06,0.02,0.08,,0.009603(N),1.000(N),4.42(T),0.0002(T),0.012,-0.790212,4.97,4.06,-0.154000,0.610000,0.224000,0.113000,0.238000,0.000000,10.0478
synonymous_variant,OR10AG1,SILENT,NM_001005491.1:p.Pro278Pro/c.834T>C,ccT/ccC,LOW,,0.038139,0.001,rs61896163,,,,,,chr11,55735106,55735106,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro278Pro/c.834T>C|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,OR10AG1,SILENT,NM_001005491.1:p.Ser220Ser/c.660A>T,tcA/tcT,LOW,,0.038139,0.001,rs61896164,,,,,,chr11,55735280,55735280,T,A,het,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser220Ser/c.660A>T|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR10AG1,MISSENSE,NM_001005491.1:p.Thr141Ile/c.422C>T,aCc/aTc,MODERATE,,0.038139,0.001,rs61896165,1(T),0.002(B),-0.145(N),-1.0459(T),,chr11,55735518,55735518,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr141Ile/c.422C>T|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,0.769573(N),1.000(N),1.39(T),0.0020(T),0.047,-1.653074,5.47,5.47,-1.264000,0.904000,-0.042000,0.035000,0.070000,0.000000,10.1447
synonymous_variant,OR10AG1,SILENT,NM_001005491.1:p.Leu121Leu/c.361T>C,Ttg/Ctg,LOW,,0.038738,0.001,rs61896166,,,,,,chr11,55735579,55735579,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu121Leu/c.361T>C|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0562,0.0389,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR10AG1,MISSENSE,NM_001005491.1:p.Met97Ile/c.291G>T,atG/atT,MODERATE,,0.038139,0.001,rs61896167,0.95(T),0.001(B),-0.285(N),-1.0216(T),,chr11,55735649,55735649,C,A,het,missense_variant(MODERATE|MISSENSE|atG/atT|p.Met97Ile/c.291G>T|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,0.837631(N),1.000(N),8.03(T),0.0000(T),0.068,-2.025676,5.47,-1.54,0.477000,0.034000,-0.957000,0.108000,0.000000,0.000000,1.5404
synonymous_variant,OR10AG1,SILENT,NM_001005491.1:p.Pro44Pro/c.132C>T,ccC/ccT,LOW,,0.0383387,0.002,rs78226543,,,,,,chr11,55735808,55735808,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro44Pro/c.132C>T|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR10AG1,MISSENSE,NM_001005491.1:p.His43Asp/c.127C>G,Cac/Gac,MODERATE,,0.038139,0.001,rs80245253,1(T),0.0(B),-2.645(N),-0.9434(T),,chr11,55735813,55735813,G,C,het,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His43Asp/c.127C>G|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,0.035761(N),1.000(N),8.09(T),0.0000(T),0.087,-2.681134,5.27,2.37,-2.090000,0.251000,-2.021000,0.121000,0.000000,0.000000,4.2571
missense_variant,OR10AG1,MISSENSE,NM_001005491.1:p.Met31Thr/c.92T>C,aTg/aCg,MODERATE,,0.0383387,0.001,rs75026138,0.1(T),0.004(B),0.33(N),-0.8555(T),,chr11,55735848,55735848,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met31Thr/c.92T>C|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0944,0.06,0.02,0.08,,0.848931(N),1.000(N),7.29(T),0.0000(T),0.097,-0.395688,5.27,5.27,0.325000,2.026000,2.073000,0.489000,0.003000,0.003000,9.5052
missense_variant,OR10AG1,MISSENSE,NM_001005491.1:p.Met28Thr/c.83T>C,aTg/aCg,MODERATE,,0.038139,0.001,rs76700680,0.3(T),0.002(B),-0.56(N),-1.0607(T),,chr11,55735857,55735857,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met28Thr/c.83T>C|301|OR10AG1|protein_coding|CODING|NM_001005491.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,0.371153(N),1.000(N),7.45(T),0.0000(T),0.049,-0.462999,5.27,-1.85,-1.753000,-0.367000,0.401000,0.303000,0.000000,0.000000,6.955
missense_variant,OR5F1,MISSENSE,NM_003697.1:p.Ser294Asn/c.881G>A,aGt/aAt,MODERATE,,0.972843,1,rs2449134,1(T),0.0(B),-1.99(N),-0.9950(T),,chr11,55761221,55761221,C,T,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser294Asn/c.881G>A|314|OR5F1|protein_coding|CODING|NM_003697.1|1|1),,,,,1,0.9899,1,0.97,0.92,1.00,,,1.000(P),1.41(T),0.0000(T),0.022,-2.661600,2.99,2.99,-0.943000,0.218000,0.990000,0.148000,0.677000,0.971000,7.2093
synonymous_variant,OR5F1,SILENT,NM_003697.1:p.Ile282Ile/c.846T>C,atT/atC,LOW,COSM3773599(1),0.038139,0.001,rs77110658,,,,,,chr11,55761256,55761256,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile282Ile/c.846T>C|314|OR5F1|protein_coding|CODING|NM_003697.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5F1,MISSENSE,NM_003697.1:p.Ala274Val/c.821C>T,gCt/gTt,MODERATE,,0.038139,0.001,rs80272096,0.6(T),0.023(B),0.11(N),-1.0138(T),,chr11,55761281,55761281,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala274Val/c.821C>T|314|OR5F1|protein_coding|CODING|NM_003697.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.02,0.08,,,1.000(N),1.37(T),0.0018(T),0.053,-1.971460,2.99,0.943,0.289000,0.391000,-0.461000,0.065000,0.836000,0.000000,5.911
synonymous_variant,OR5F1,SILENT,NM_003697.1:p.Arg122Arg/c.364A>C,Agg/Cgg,LOW,,0.998403,1,rs2128152,,,,,,chr11,55761738,55761738,T,G,hom,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg122Arg/c.364A>C|314|OR5F1|protein_coding|CODING|NM_003697.1|1|1),,,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,OR5F1,MISSENSE,NM_003697.1:p.Ser106Ala/c.316T>G,Tcc/Gcc,MODERATE,,0.0407348,0.002,rs61888467,1(T),0.0(B),-0.28(N),-0.9488(T),,chr11,55761786,55761786,A,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser106Ala/c.316T>G|314|OR5F1|protein_coding|CODING|NM_003697.1|1|1),,,,,0.0532,0.0389,0.0934,0.06,0.03,0.08,,,1.000(N),5.54(T),0.0001(T),0.028,-2.926568,3.03,-3.49,-1.872000,-0.761000,-4.178000,0.071000,0.000000,0.000000,0.8715
synonymous_variant,OR5AS1,SILENT,NM_001001921.1:p.Leu86Leu/c.258G>A,ttG/ttA,LOW,,0.971446,1,rs1482011,,,,,,chr11,55798152,55798152,G,A,hom,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu86Leu/c.258G>A|324|OR5AS1|protein_coding|CODING|NM_001001921.1|1|1),,,,,1,0.9885,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,OR5AS1,SILENT,NM_001001921.1:p.Leu115Leu/c.343C>T,Ctg/Ttg,LOW,,0.0383387,0.001,rs17528782,,,,,,chr11,55798237,55798237,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu115Leu/c.343C>T|324|OR5AS1|protein_coding|CODING|NM_001001921.1|1|1),,,,,0.0532,0.0403,0.0934,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,OR5AS1,SILENT,NM_001001921.1:p.Val213Val/c.639A>C,gtA/gtC,LOW,,0.0383387,0.001,rs17528803,,,,,,chr11,55798533,55798533,A,C,het,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val213Val/c.639A>C|324|OR5AS1|protein_coding|CODING|NM_001001921.1|1|1),,,,,0.0532,0.0403,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,OR5AS1,SILENT,NM_001001921.1:p.Ile289Ile/c.867T>C,atT/atC,LOW,,0.0383387,0.001,rs61889974,,,,,,chr11,55798761,55798761,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile289Ile/c.867T>C|324|OR5AS1|protein_coding|CODING|NM_001001921.1|1|1),,,,,0.0532,0.0403,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,OR5AS1,SILENT,NM_001001921.1:p.Tyr290Tyr/c.870T>C,taT/taC,LOW,,0.0383387,0.001,rs386502386,,,,,,chr11,55798764,55798764,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr290Tyr/c.870T>C|324|OR5AS1|protein_coding|CODING|NM_001001921.1|1|1),,,,,0.0532,0.0403,0.0934,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5AS1,MISSENSE,NM_001001921.1:p.Tyr310Cys/c.929A>G,tAt/tGt,MODERATE,COSM1162955(1),0.0383387,0.001,rs17600939,0.16(T),0.053(B),0(N),-1.0408(T),,chr11,55798823,55798823,A,G,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr310Cys/c.929A>G|324|OR5AS1|protein_coding|CODING|NM_001001921.1|1|1),,,,,0.0532,0.0403,0.0934,0.06,0.03,0.08,,,1.000(N),7.87(T),0.0000(T),0.07,0.669661,4.55,-6.67,-1.296000,-0.785000,-0.358000,0.001000,0.000000,0.000000,1.5267
missense_variant,OR8I2,MISSENSE,NM_001003750.1:p.Ile124Val/c.370A>G,Ata/Gta,MODERATE,,0.0389377,0.001,rs17603011,1(T),0.0(B),-1.54(N),-0.9153(T),,chr11,55861153,55861153,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile124Val/c.370A>G|310|OR8I2|protein_coding|CODING|NM_001003750.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.002580(N),1.000(N),4.42(T),0.0001(T),0.127,-2.307026,4.5,4.5,-0.440000,1.027000,0.147000,0.007000,0.745000,0.001000,6.5633
missense_variant,OR8I2,MISSENSE,NM_001003750.1:p.Ser172Gly/c.514A>G,Agc/Ggc,MODERATE,,0.0363419,0.001,rs117967749,0(D),0.026(B),-0.05(N),-0.9967(T),,chr11,55861297,55861297,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser172Gly/c.514A>G|310|OR8I2|protein_coding|CODING|NM_001003750.1|1|1),,,,,0.0532,0.0432,0.0944,0.06,0.01,0.08,,0.115390(U),1.000(N),8.8(T),0.0000(T),0.247,0.524184,4.33,0.175,0.362000,-0.177000,0.450000,0.184000,0.000000,0.000000,1.491
missense_variant,OR8I2,MISSENSE,NM_001003750.1:p.Gln234Pro/c.701A>C,cAg/cCg,MODERATE,,0.0389377,0.001,rs61887096,0.19(T),0.154(B),2.645(M),-0.9687(T),,chr11,55861484,55861484,A,C,het,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln234Pro/c.701A>C|310|OR8I2|protein_coding|CODING|NM_001003750.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.572443(U),1.000(N),8.69(T),0.0000(T),0.126,2.232629,4.33,0.564,0.362000,0.170000,-0.420000,0.863000,0.795000,0.000000,8.255
stop_gained,OR8I2,NONSENSE,NM_001003750.1:p.Tyr289*/c.867C>G,taC/taG,HIGH,,0.0389377,0.001,rs61887097,1(T),,,,,chr11,55861650,55861650,C,G,het,stop_gained(HIGH|NONSENSE|taC/taG|p.Tyr289*/c.867C>G|310|OR8I2|protein_coding|CODING|NM_001003750.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.002431(U),1.000(D),,,.,-0.194841,4.33,-6.01,-0.760000,-0.644000,-1.608000,0.016000,0.787000,0.000000,15.6893
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.Ala105Val/c.314C>T,gCc/gTc,MODERATE,,0.0389377,0.001,rs61750923,1(T),0.0(B),0.27(N),-0.9077(T),,chr11,55872832,55872832,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala105Val/c.314C>T|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.107885(N),1.000(N),4.99(T),0.0001(T),0.041,-2.473233,3.58,2.43,-0.573000,0.534000,-1.446000,0.103000,0.007000,0.000000,0.4897
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.His120Tyr/c.358C>T,Cat/Tat,MODERATE,,0.959465,0.999,rs2512961,1(T),0.0(B),-3.035(N),-1.0291(T),,chr11,55872876,55872876,C,T,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His120Tyr/c.358C>T|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,0.9468,0.9553,0.9056,0.94,0.97,0.92,,0.000204(N),1.000(P),5.01(T),0.0000(T),0.085,-2.255890,3.58,3.58,-0.692000,0.518000,1.754000,0.016000,0.995000,0.008000,9.4364
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.Ile154Met/c.462A>G,atA/atG,MODERATE,,0.0391374,0.001,rs61734406,0.08(T),0.005(B),0.77(N),-1.0754(T),,chr11,55872980,55872980,A,G,het,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile154Met/c.462A>G|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.197205(N),1.000(N),1.09(T),0.0044(T),0.065,0.305911,3.35,-4.92,-2.522000,-1.369000,-5.901000,0.005000,0.000000,0.000000,2.5285
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.Val158Leu/c.472G>C,Gtc/Ctc,MODERATE,,0.0389377,0.001,rs61734403,0.06(T),0.363(B),0.665(N),-1.0273(T),,chr11,55872990,55872990,G,C,het,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val158Leu/c.472G>C|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.785094(N),1.000(N),1.31(T),0.0031(T),0.061,1.860895,3.35,-3.56,-0.423000,-0.947000,-0.852000,0.023000,0.000000,0.000000,4.9242
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.Tyr169Cys/c.506A>G,tAc/tGc,MODERATE,,0.998403,1,rs2449148,1(T),0.0(B),-3.24(N),-0.9763(T),,chr11,55873024,55873024,A,G,hom,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr169Cys/c.506A>G|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,1,1,1,1.00,0.99,1.00,,0.000021(N),1.000(P),9.05(T),0.0000(T),0.051,-1.316626,3.58,3.58,-0.440000,0.809000,4.245000,0.010000,0.102000,1.000000,8.5942
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.Asp170Tyr/c.508G>T,Gac/Tac,MODERATE,,0.0389377,0.001,rs61734396,0.01(D),0.037(B),1.3(L),-0.9979(T),,chr11,55873026,55873026,G,T,het,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp170Tyr/c.508G>T|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.992280(N),1.000(N),1.39(T),0.0027(T),0.081,1.147702,3.58,-7.16,-0.760000,-1.824000,-0.721000,0.004000,0.000000,0.000000,4.277
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.Tyr259His/c.775T>C,Tat/Cat,MODERATE,,0.0389377,0.001,rs61731255,0.01(D),0.327(B),2.31(M),-1.0081(T),,chr11,55873293,55873293,T,C,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr259His/c.775T>C|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.005489(N),0.999(N),8.27(T),0.0000(T),0.199,1.450190,3.58,3.58,0.362000,1.590000,2.179000,0.288000,0.867000,0.634000,8.5487
missense_variant,OR8H2,MISSENSE,NM_001005200.1:p.Val284Met/c.850G>A,Gtg/Atg,MODERATE,,0.998403,1,rs1842696,1(T),0.0(B),-2.08(N),-0.9762(T),,chr11,55873368,55873368,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val284Met/c.850G>A|312|OR8H2|protein_coding|CODING|NM_001005200.1|1|1),,,,,1,1,1,1.00,0.99,1.00,,0.000003(N),1.000(P),1.23(T),0.0000(T),0.044,-2.672616,3.58,3.58,-0.692000,0.518000,-0.150000,0.044000,0.977000,0.000000,4.3001
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Cys103Phe/c.308G>T,tGt/tTt,MODERATE,,0.0391374,0.001,rs61746202,1(T),0.0(B),-2.9(N),-0.9382(T),,chr11,55890156,55890156,G,T,het,missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys103Phe/c.308G>T|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0461,0.0944,0.06,0.02,0.08,,0.011291(N),1.000(N),8.21(T),0.0000(T),0.092,-2.793922,3.44,0.774,-1.543000,-0.480000,0.901000,0.380000,0.009000,0.000000,7.4403
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Pro137Ser/c.409C>T,Ccc/Tcc,MODERATE,,0.998403,1,rs1842691,1(T),0.0(B),-2.69(N),-1.0129(T),,chr11,55890257,55890257,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro137Ser/c.409C>T|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,1,1,1,1.00,0.99,1.00,,0.000071(N),1.000(P),4.83(T),0.0000(T),0.048,-3.073259,3.44,2.28,-1.464000,-0.038000,0.240000,0.125000,0.015000,0.088000,0.9322
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Leu142Pro/c.425T>C,cTc/cCc,MODERATE,,0.0389377,0.001,rs61743852,0.2(T),0.319(B),2.665(M),-0.9462(T),,chr11,55890273,55890273,T,C,het,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu142Pro/c.425T>C|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.319642(N),1.000(N),1.06(T),0.0067(T),0.142,-0.727898,3.44,-5.82,-1.603000,-0.591000,-2.829000,0.086000,0.000000,0.000000,0.2506
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Val158Leu/c.472G>C,Gtc/Ctc,MODERATE,,0.0389377,0.001,rs61743838,0.09(T),0.363(B),0.91(L),-1.0127(T),,chr11,55890320,55890320,G,C,het,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val158Leu/c.472G>C|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.785094(N),1.000(N),1.31(T),0.0034(T),0.051,0.672168,3.62,-3.17,0.173000,-0.461000,-1.869000,0.240000,0.000000,0.000000,5.4437
synonymous_variant,OR8H3,SILENT,NM_001005201.1:p.Cys169Cys/c.507T>C,tgT/tgC,LOW,,0.0363419,0.001,rs78856925,,,,,,chr11,55890355,55890355,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys169Cys/c.507T>C|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0432,0.0944,,,,,,,,,,,,,,,,,,,
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Asp170Tyr/c.508G>T,Gac/Tac,MODERATE,,0.0363419,0.001,rs61746318,0.01(D),0.02(B),1.87(L),-0.9792(T),,chr11,55890356,55890356,G,T,het,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp170Tyr/c.508G>T|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0432,0.0944,,,,,0.989275(N),1.000(N),1.39(T),0.0078(T),0.127,0.096841,3.62,-3.43,0.173000,-0.679000,-0.663000,0.246000,0.002000,0.000000,7.274
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Ile201Val/c.601A>G,Att/Gtt,MODERATE,,0.0389377,0.001,rs17531522,0.52(T),0.12(B),0.29(N),-1.0976(T),,chr11,55890449,55890449,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile201Val/c.601A>G|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.001980(N),1.000(N),8.88(T),0.0000(T),0.058,-0.501789,3.62,2.34,0.145000,1.415000,-2.468000,0.342000,0.019000,0.000000,9.6218
synonymous_variant,OR8H3,SILENT,NM_001005201.1:p.Cys241Cys/c.723C>T,tgC/tgT,LOW,,0.038139,0.001,rs61743017,,,,,,chr11,55890571,55890571,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys241Cys/c.723C>T|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Thr254Ile/c.761C>T,aCt/aTt,MODERATE,,0.038139,0.001,rs61743026,0(D),0.934(D),2.36(M),-0.9192(T),,chr11,55890609,55890609,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr254Ile/c.761C>T|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.000041(D),1.000(N),8.28(T),0.0001(T),0.051,1.138095,3.62,2.68,0.173000,0.612000,3.281000,0.103000,0.335000,0.035000,7.3412
missense_variant,OR8H3,MISSENSE,NM_001005201.1:p.Arg293Ile/c.878G>T,aGa/aTa,MODERATE,,0.038139,0.001,rs61747871,0(D),0.98(D),4.165(H),-0.4798(T),,chr11,55890726,55890726,G,T,het,missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg293Ile/c.878G>T|312|OR8H3|protein_coding|CODING|NM_001005201.1|1|1),,,,,0.0532,0.0447,0.0944,0.06,0.02,0.08,,0.000019(D),0.997(D),1.1(T),0.0295(T),0.283,3.096665,3.62,3.62,0.173000,1.734000,2.810000,0.649000,0.948000,0.463000,15.6872
synonymous_variant,OR8J3,SILENT,NM_001004064.1:p.Thr148Thr/c.444A>G,acA/acG,LOW,,0.061901,0.001,rs1947923,,,,,,chr11,55904751,55904751,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr148Thr/c.444A>G|315|OR8J3|protein_coding|CODING|NM_001004064.1|1|1),,,,,0.0532,0.0548,0.0944,0.08,0.09,0.08,,,,,,,,,,,,,,,,
missense_variant,OR8J3,MISSENSE,NM_001004064.1:p.Asn57Thr/c.170A>C,aAc/aCc,MODERATE,,0.0603035,0.001,rs1947924,1(T),0.0(B),-2.67(N),-0.9919(T),,chr11,55905025,55905025,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn57Thr/c.170A>C|315|OR8J3|protein_coding|CODING|NM_001004064.1|1|1),,,,,0.0532,0.0562,0.0944,0.08,0.08,0.08,,0.000174(N),1.000(P),5.37(T),0.0000(T),0.047,-2.323265,3.26,2.31,-0.763000,0.499000,0.480000,0.233000,0.244000,0.001000,5.8695
missense_variant,OR8K5,MISSENSE,NM_001004058.2:p.Met118Val/c.352A>G,Atg/Gtg,MODERATE,,0.0395367,0.001,rs61746523,0(D),0.977(D),3.43(M),-1.1492(T),,chr11,55927442,55927442,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met118Val/c.352A>G|307|OR8K5|protein_coding|CODING|NM_001004058.2|1|1),,,,,0.0562,0.0447,0.0944,0.06,0.02,0.08,,0.000001(D),0.657(N),5.46(T),0.0008(T),0.251,2.412614,3.88,2.74,0.462000,0.659000,5.264000,0.372000,0.974000,1.000000,8.6825
missense_variant,OR5J2,MISSENSE,NM_001005492.1:p.Met45Val/c.133A>G,Atg/Gtg,MODERATE,,0.000199681,0,rs201858818,0(D),0.104(B),1.36(L),-0.8854(T),,chr11,55944226,55944226,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met45Val/c.133A>G|312|OR5J2|protein_coding|CODING|NM_001005492.1|1|1),,,,,0,0,0.001,0.00,0.00,0.00,,0.000002(D),1.000(N),7.46(T),0.0008(T),0.245,0.653603,4.57,0.237,0.475000,0.194000,0.708000,0.183000,0.921000,0.180000,8.1884
missense_variant,OR5J2,MISSENSE,NM_001005492.1:p.Ser53Thr/c.157T>A,Tcc/Acc,MODERATE,,0.000199681,0,rs199897275,0.13(T),0.145(B),1.85(L),-0.9302(T),,chr11,55944250,55944250,T,A,het,missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser53Thr/c.157T>A|312|OR5J2|protein_coding|CODING|NM_001005492.1|1|1),,,,,0,0,0.001,0.00,0.00,0.00,,0.048790(N),1.000(N),5.36(T),0.0043(T),0.059,0.259231,4.39,2.02,-0.239000,0.995000,-0.955000,0.203000,0.362000,0.000000,2.2395
missense_variant,OR5T2,MISSENSE,NM_001004746.1:p.His309Asp/c.925C>G,Cat/Gat,MODERATE,,0.0585064,0.001,rs7121880,0.18(T),0.297(B),0.975(L),-0.9940(T),,chr11,55999737,55999737,G,C,het,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His309Asp/c.925C>G|359|OR5T2|protein_coding|CODING|NM_001004746.1|1|1),,,,,0.0562,0.0548,0.0944,0.08,0.08,0.08,,0.000572(U),0.968(P),8.75(T),0.0000(T),0.194,1.835695,5.07,4.08,0.471000,2.520000,-0.334000,0.086000,0.950000,0.000000,7.1718
synonymous_variant,OR5T2,SILENT,NM_001004746.1:p.Ile255Ile/c.765C>T,atC/atT,LOW,,0.0369409,0.001,rs7122000,,,,,,chr11,55999897,55999897,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile255Ile/c.765C>T|359|OR5T2|protein_coding|CODING|NM_001004746.1|1|1),,,,,0.0562,0.0432,0.0944,0.06,0.01,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5T2,MISSENSE,NM_001004746.1:p.Thr125Met/c.374C>T,aCg/aTg,MODERATE,,0.0369409,0.001,rs7122514,0.09(T),0.003(B),-0.585(N),-0.9025(T),,chr11,56000288,56000288,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr125Met/c.374C>T|359|OR5T2|protein_coding|CODING|NM_001004746.1|1|1),,,,,0.0562,0.0432,0.0944,0.06,0.01,0.08,,0.812812(N),1.000(N),5.0(T),0.0001(T),0.017,0.429739,4.87,3.74,-0.511000,0.818000,4.695000,0.000000,0.001000,0.280000,5.3798
missense_variant,OR5T2,MISSENSE,NM_001004746.1:p.Val87Leu/c.259G>C,Gtg/Ctg,MODERATE,,0.90655,1,rs10791893,1(T),0.0(B),-1.385(N),-1.0317(T),,chr11,56000403,56000403,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val87Leu/c.259G>C|359|OR5T2|protein_coding|CODING|NM_001004746.1|1|1),,,,,0.9836,0.915,0.8787,0.85,0.79,0.88,,0.013608(N),1.000(P),4.08(T),0.0000(T),0.031,-2.698775,4.3,0.512,-1.294000,-0.262000,-3.237000,0.001000,0.004000,0.000000,5.3307
missense_variant,OR5T2,MISSENSE,NM_001004746.1:p.Thr64Ile/c.191C>T,aCt/aTt,MODERATE,COSM147229(3),0.172724,0.124,rs11227599,0.93(T),0.001(B),-1.075(N),-1.1754(T),,chr11,56000471,56000471,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr64Ile/c.191C>T|359|OR5T2|protein_coding|CODING|NM_001004746.1|1|1),,,,,0.1738,0.1585,0.2117,0.19,0.18,0.20,,0.246309(N),1.000(P),8.49(T),0.0000(T),0.013,-0.281757,4.77,3.64,-1.324000,0.284000,0.030000,0.002000,0.000000,0.000000,8.8572
synonymous_variant,OR5T2,SILENT,NM_001004746.1:p.Asn27Asn/c.81C>T,aaC/aaT,LOW,,0.038738,0.001,rs76457874,,,,,,chr11,56000581,56000581,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn27Asn/c.81C>T|359|OR5T2|protein_coding|CODING|NM_001004746.1|1|1),,,,,0.0562,0.0447,0.0944,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5T3,MISSENSE,NM_001004747.1:p.Ile190Thr/c.569T>C,aTa/aCa,MODERATE,,0.0585064,0.001,rs61746551,1(T),0.0(B),-2.2(N),-1.1327(T),,chr11,56020244,56020244,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile190Thr/c.569T>C|340|OR5T3|protein_coding|CODING|NM_001004747.1|1|1),,,,,0.0562,0.0548,0.0944,0.08,0.08,0.08,,0.000168(N),1.000(P),9.05(T),0.0000(T),0.112,-2.650512,4.65,3.73,-0.131000,0.694000,-0.010000,0.009000,0.002000,0.000000,9.8594
synonymous_variant,OR5T1,SILENT,NM_001004745.1:p.Leu196Leu/c.588G>C,ctG/ctC,LOW,,0.765775,0.8343,rs7125697,,,,,,chr11,56043702,56043702,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu196Leu/c.588G>C|326|OR5T1|protein_coding|CODING|NM_001004745.1|1|1),,,,,0.8252,0.7233,0.6779,0.68,0.72,0.66,,,,,,,,,,,,,,,,
missense_variant,OR8H1,MISSENSE,NM_001005199.1:p.Ser214Phe/c.641C>T,tCt/tTt,MODERATE,,0.0389377,0.001,rs61888286,0.47(T),0.022(B),0.285(N),-1.1379(T),,chr11,56057898,56057898,G,A,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser214Phe/c.641C>T|311|OR8H1|protein_coding|CODING|NM_001005199.1|1|1),,,,,0.0552,0.0447,0.0924,0.06,0.02,0.08,,0.419599(N),1.000(N),8.8(T),0.0000(T),0.058,0.063115,3.81,-1.71,-0.242000,-0.227000,1.742000,0.004000,0.000000,0.002000,4.6672
missense_variant,OR8H1,MISSENSE,NM_001005199.1:p.Glu22Val/c.65A>T,gAg/gTg,MODERATE,,0.0389377,0.001,rs17540861,0.01(D),0.461(P),2.4(M),-0.9244(T),,chr11,56058474,56058474,T,A,het,missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu22Val/c.65A>T|311|OR8H1|protein_coding|CODING|NM_001005199.1|1|1),,,,,0.0552,0.0447,0.0924,0.06,0.02,0.08,,0.002634(N),1.000(N),7.39(T),0.0001(T),0.134,2.415981,3.77,-0.0985,0.472000,-0.126000,-0.002000,0.004000,0.001000,0.000000,8.1275
missense_variant,OR8K3,MISSENSE,NM_001005202.1:p.Leu122Arg/c.365T>G,cTc/cGc,MODERATE,,0.785543,0.8651,rs386623697,1(T),0.0(B),-3.65(N),-1.0126(T),,chr11,56086147,56086147,T,G,het,missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu122Arg/c.365T>G|312|OR8K3|protein_coding|CODING|NM_001005202.1|1|1),,,,,0.8272,0.8156,0.675,0.68,0.73,0.66,,0.000007(N),1.000(P),3.55(T),0.0000(T),0.046,-1.852062,4.56,1.65,-1.015000,0.020000,4.738000,0.013000,0.934000,0.997000,5.75
start_lost,OR8K1,MISSENSE,NM_001002907.1:p.Met1?/c.2T>C,aTg/aCg,HIGH,,0.779952,0.8631,rs1905055,0(D),0.006(B),,-0.9314(T),OR8K1:1.00(1);,chr11,56113516,56113516,T,C,het,start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|319|OR8K1|protein_coding|CODING|NM_001002907.1|1|1),,,,,0.8272,0.8127,0.673,0.68,0.72,0.66,,,0.000(P),8.29(T),0.0000(T),0.102,0.707650,4.4,2.01,-0.638000,0.285000,-0.018000,0.003000,0.001000,0.000000,5.1285
missense_variant,OR8K1,MISSENSE,NM_001002907.1:p.Ala84Thr/c.250G>A,Gcc/Acc,MODERATE,,0.0391374,0.001,rs17614327,1(T),0.002(B),0.295(N),-0.9192(T),,chr11,56113764,56113764,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala84Thr/c.250G>A|319|OR8K1|protein_coding|CODING|NM_001002907.1|1|1),,,,,0.0573,0.0447,0.0915,0.06,0.02,0.08,,0.064954(N),1.000(N),4.08(T),0.0003(T),0.059,-0.293825,5.0,4.02,0.549000,2.297000,-1.019000,0.114000,0.035000,0.000000,14.8807
synonymous_variant,OR8J1,SILENT,NM_001005205.2:p.Arg8Arg/c.24A>G,agA/agG,LOW,,0.898363,0.875,rs7942390,,,,,,chr11,56127746,56127746,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg8Arg/c.24A>G|316|OR8J1|protein_coding|CODING|NM_001005205.2|1|1),,,,,0.8855,0.8991,0.8837,0.90,0.94,0.88,,,,,,,,,,,,,,,,
missense_variant,OR8J1,MISSENSE,NM_001005205.2:p.Gly36Val/c.107G>T,gGg/gTg,MODERATE,,0.0389377,0.001,rs7927015,0.43(T),0.012(B),-0.82(N),-0.8963(T),,chr11,56127829,56127829,G,T,het,missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly36Val/c.107G>T|316|OR8J1|protein_coding|CODING|NM_001005205.2|1|1),,,,,0.0573,0.0447,0.0905,0.06,0.02,0.08,,0.648359(N),1.000(N),4.15(T),0.0002(T),0.072,-1.431938,4.57,-0.24,-2.856000,-0.157000,0.064000,0.001000,0.072000,0.000000,9.4518
missense_variant,OR8J1,MISSENSE,NM_001005205.2:p.Met114Leu/c.340A>T,Atg/Ttg,MODERATE,,0.0363419,0.001,rs7942730,1(T),0.005(B),-1.515(N),-0.9888(T),,chr11,56128062,56128062,A,T,het,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met114Leu/c.340A>T|316|OR8J1|protein_coding|CODING|NM_001005205.2|1|1),,,,,0.0573,0.0432,0.0905,0.06,0.01,0.08,,0.017302(N),1.000(N),8.8(T),0.0000(T),0.099,-1.534363,4.76,2.28,0.523000,0.233000,-0.329000,0.037000,0.057000,0.000000,9.6079
missense_variant,OR8J1,MISSENSE,NM_001005205.2:p.Tyr120Cys/c.359A>G,tAt/tGt,MODERATE,COSM1180651(2),0.220248,0.1369,rs10896290,0.01(D),0.109(B),3.185(M),-0.9634(T),,chr11,56128081,56128081,A,G,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr120Cys/c.359A>G|316|OR8J1|protein_coding|CODING|NM_001005205.2|1|1),,,,,0.1728,0.1873,0.328,0.32,0.28,0.34,,0.000031(D),0.590(P),7.03(T),0.0000(T),0.388,1.863321,4.76,4.76,0.523000,1.910000,3.624000,0.747000,1.000000,1.000000,13.3744
missense_variant,OR8J1,MISSENSE,NM_001005205.2:p.Ile228Met/c.684A>G,atA/atG,MODERATE,,0.0371406,0.001,rs62001032,0.86(T),0.513(P),0.47(N),-0.9499(T),,chr11,56128406,56128406,A,G,het,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile228Met/c.684A>G|316|OR8J1|protein_coding|CODING|NM_001005205.2|1|1),,,,,0.0573,0.0432,0.0905,0.06,0.01,0.08,,0.036203(N),1.000(N),8.46(T),0.0000(T),0.057,-2.313963,3.9,-7.07,-1.303000,-1.284000,-4.819000,0.020000,0.003000,0.000000,10.4867
synonymous_variant,OR8J1,SILENT,NM_001005205.2:p.Leu268Leu/c.802C>T,Ctg/Ttg,LOW,,0.898363,0.875,rs7928704,,,,,,chr11,56128524,56128524,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu268Leu/c.802C>T|316|OR8J1|protein_coding|CODING|NM_001005205.2|1|1),,,,,0.8855,0.8991,0.8837,0.90,0.94,0.88,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Asp19Asp/c.57C>T,gaC/gaT,LOW,COSM4145829(1),0.455671,0.6438,rs11228165,,,,,,chr11,56143156,56143156,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp19Asp/c.57C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp19Asp/c.57C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.5757,0.598,0.3708,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.His20Arg/c.59A>G,cAt/cGt,MODERATE,COSM4145830(1),0.455671,0.6438,rs11228166,1(T),0.0(B),,-0.9027(T),,chr11,56143158,56143158,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His20Arg/c.59A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His20Arg/c.59A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.5757,0.598,0.3708,,,,,0.331107(N),1.000(P),5.38(T),0.0000(T),0.312,-2.777030,5.87,-11.4,-4.059000,-2.074000,-5.311000,0.000000,0.000000,0.000000,5.9338
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ser33Ser/c.99C>T,tcC/tcT,LOW,,,,rs80034856,,,,,,chr11,56143198,56143198,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser33Ser/c.99C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser33Ser/c.99C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Tyr35Tyr/c.105C>T,taC/taT,LOW,,,,rs79445223,,,,,,chr11,56143204,56143204,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr35Tyr/c.105C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr35Tyr/c.105C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu36Leu/c.108C>T,ctC/ctT,LOW,,,,rs75547926,,,,,,chr11,56143207,56143207,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu36Leu/c.108C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu36Leu/c.108C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Val39Val/c.117G>A,gtG/gtA,LOW,,,,rs76044076,,,,,,chr11,56143216,56143216,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val39Val/c.117G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val39Val/c.117G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Asn42Asn/c.126C>T,aaC/aaT,LOW,,,,,,,,,,chr11,56143225,56143225,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn42Asn/c.126C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn42Asn/c.126C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu43Leu/c.127T>C,Ttg/Ctg,LOW,,,,rs78590139,,,,,,chr11,56143226,56143226,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu43Leu/c.127T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu43Leu/c.127T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Ala51Thr/c.151G>A,Gcg/Acg,MODERATE,,,,rs76390346,0.3(T),0.0(B),,-0.9075(T),,chr11,56143250,56143250,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala51Thr/c.151G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala51Thr/c.151G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.279826(N),1.000(N),5.12(T),0.0037(T),0.173,-0.586165,5.78,-4.53,-2.760000,-1.239000,-0.738000,0.000000,0.000000,0.000000,6.3153
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ala51Ala/c.153G>A,gcG/gcA,LOW,,,,,,,,,,chr11,56143252,56143252,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala51Ala/c.153G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala51Ala/c.153G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Thr53Lys/c.158C>A,aCa/aAa,MODERATE,COSM4145831(1),,,rs77515824,0(D),0.017(B),-0.255(N),-0.8861(T),,chr11,56143257,56143257,C,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr53Lys/c.158C>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr53Lys/c.158C>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.792369(N),1.000(N),5.36(T),0.0031(T),0.38,0.181479,5.78,2.78,-0.734000,0.827000,-1.653000,0.000000,0.127000,0.000000,10.8794
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu86Leu/c.258G>A,ttG/ttA,LOW,COSM4145834(1),,,rs76949582,,,,,,chr11,56143357,56143357,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu86Leu/c.258G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu86Leu/c.258G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Tyr87Tyr/c.261C>T,taC/taT,LOW,COSM1561350(2),,,rs79469149,,,,,,chr11,56143360,56143360,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr87Tyr/c.261C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr87Tyr/c.261C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Val91Ile/c.271G>A,Gtt/Att,MODERATE,COSM4145835(2),,,,0.42(T),0.0(B),1.09(L),-0.9251(T),,chr11,56143370,56143370,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val91Ile/c.271G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val91Ile/c.271G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.811892(N),1.000(N),6.65(T),0.0010(T),0.137,-0.972856,5.78,-11.6,-4.461000,-2.721000,-1.929000,0.000000,0.000000,0.000000,2.0814
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Val91Gly/c.272T>G,gTt/gGt,MODERATE,COSM4145836(1),,,,0.03(D),0.017(B),2.005(M),-0.9472(T),,chr11,56143371,56143371,T,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val91Gly/c.272T>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val91Gly/c.272T>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.811892(N),1.000(N),7.13(T),0.0013(T),0.5,-0.161290,5.78,-3.63,-2.378000,-0.669000,-2.978000,0.000000,0.000000,0.000000,1.8891
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ile92Ile/c.276A>T,atA/atT,LOW,COSM4145837(1),,,,,,,,,chr11,56143375,56143375,A,T,het,"synonymous_variant(LOW|SILENT|atA/atT|p.Ile92Ile/c.276A>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atA/atT|p.Ile92Ile/c.276A>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ser93Ser/c.279C>G,tcC/tcG,LOW,,,,,,,,,,chr11,56143378,56143378,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser93Ser/c.279C>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser93Ser/c.279C>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Phe94Phe/c.282T>C,ttT/ttC,LOW,COSM4145839(1),,,,,,,,,chr11,56143381,56143381,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe94Phe/c.282T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe94Phe/c.282T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Asp95Asn/c.283G>A,Gat/Aat,MODERATE,,,,,1(T),0.0(B),,-0.9385(T),,chr11,56143382,56143382,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp95Asn/c.283G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp95Asn/c.283G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.194162(N),1.000(N),8.11(T),0.0002(T),0.149,-0.646159,5.78,-3.03,-1.515000,-0.144000,-3.973000,0.008000,0.959000,0.000000,1.3132
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Thr99Ala/c.295A>G,Act/Gct,MODERATE,COSM4145840(4),,,rs74667177,0.78(T),0.001(B),,-0.8987(T),,chr11,56143394,56143394,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr99Ala/c.295A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr99Ala/c.295A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.005461(N),1.000(N),4.1(T),0.0050(T),0.251,-0.894359,5.78,0.174,-1.890000,0.099000,-2.640000,0.004000,0.065000,0.000000,11.7991
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Gln100Gln/c.300A>G,caA/caG,LOW,COSM4145841(3),0.000399361,0,,,,,,,chr11,56143399,56143399,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln100Gln/c.300A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|caA/caG|p.Gln100Gln/c.300A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.001,0,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu101Leu/c.301C>T,Ctg/Ttg,LOW,COSM4145842(2),,,,,,,,,chr11,56143400,56143400,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu101Leu/c.301C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu101Leu/c.301C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu101Leu/c.303G>A,ctG/ctA,LOW,COSM4145843(2),,,,,,,,,chr11,56143402,56143402,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu101Leu/c.303G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu101Leu/c.303G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Cys103Cys/c.309C>T,tgC/tgT,LOW,COSM4145844(4),0.000998403,0,,,,,,,chr11,56143408,56143408,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys103Cys/c.309C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys103Cys/c.309C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.0041,0,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Phe104Phe/c.312T>C,ttT/ttC,LOW,COSM4145845(4),0.000998403,0,,,,,,,chr11,56143411,56143411,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe104Phe/c.312T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe104Phe/c.312T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.0041,0,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu105Leu/c.315C>G,ctC/ctG,LOW,COSM4145846(4),0.000998403,0,,,,,,,chr11,56143414,56143414,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu105Leu/c.315C>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu105Leu/c.315C>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.0041,0,0.001,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Thr106Ala/c.316A>G,Acc/Gcc,MODERATE,COSM4145847(4),0.000998403,0,,1(T),0.003(B),,-0.9685(T),,chr11,56143415,56143415,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr106Ala/c.316A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr106Ala/c.316A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.0041,0,0.001,,,,,0.946402(N),1.000(N),7.34(T),0.0004(T),0.104,-2.388033,5.78,-7.1,-1.950000,-1.280000,-10.652000,0.000000,0.000000,0.000000,9.4951
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Glu111Glu/c.333A>G,gaA/gaG,LOW,COSM4145852(4),,,,,,,,,chr11,56143432,56143432,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu111Glu/c.333A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu111Glu/c.333A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Ser112Cys/c.335C>G,tCc/tGc,MODERATE,COSM4145853(2),0.339257,0.1379,rs10791961,1(T),0.0(B),,-1.0521(T),,chr11,56143434,56143434,C,G,hom,"missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser112Cys/c.335C>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser112Cys/c.335C>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.2311,0.2651,0.4195,0.46,0.53,0.42,,0.000070(N),1.000(P),7.84(T),0.0000(T),0.157,-2.770421,5.78,3.83,-0.857000,0.800000,-0.503000,0.001000,0.984000,0.000000,5.6854
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu130Leu/c.390A>G,ctA/ctG,LOW,COSM4145854(2),,,rs74711788,,,,,,chr11,56143489,56143489,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu130Leu/c.390A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu130Leu/c.390A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Leu131Met/c.391T>A,Ttg/Atg,MODERATE,COSM1676015(6),,,rs79803210,0.05(D),0.02(B),,-0.9760(T),,chr11,56143490,56143490,T,A,het,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu131Met/c.391T>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu131Met/c.391T>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.001184(N),1.000(N),4.06(T),0.0089(T),0.329,-0.194057,5.78,-1.12,-3.220000,-0.520000,0.034000,0.000000,0.000000,0.000000,7.1957
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Val134Val/c.402T>G,gtT/gtG,LOW,COSM4145855(2),,,rs12272237,,,,,,chr11,56143501,56143501,T,G,het,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val134Val/c.402T>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val134Val/c.402T>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Thr137Ser/c.409A>T,Act/Tct,MODERATE,COSM4145856(1),,,rs10791962,1(T),0.0(B),,-0.9874(T),,chr11,56143508,56143508,A,T,het,"missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr137Ser/c.409A>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr137Ser/c.409A>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.000203(N),1.000(N),7.58(T),0.0003(T),0.318,-1.357377,5.78,4.59,-0.270000,1.027000,0.410000,0.007000,0.986000,0.046000,5.6754
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Thr137Thr/c.411T>C,acT/acC,LOW,COSM4145857(1),,,rs10791963,,,,,,chr11,56143510,56143510,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr137Thr/c.411T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|acT/acC|p.Thr137Thr/c.411T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Gln143Gln/c.429A>G,caA/caG,LOW,COSM4145858(1),,,rs10791964,,,,,,chr11,56143528,56143528,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln143Gln/c.429A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|caA/caG|p.Gln143Gln/c.429A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Val145Val/c.435A>G,gtA/gtG,LOW,COSM4145859(1),,,rs78854227,,,,,,chr11,56143534,56143534,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val145Val/c.435A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val145Val/c.435A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ala146Ala/c.438A>T,gcA/gcT,LOW,COSM4145860(1),,,rs74691432,,,,,,chr11,56143537,56143537,A,T,het,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala146Ala/c.438A>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala146Ala/c.438A>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Val147Ala/c.440T>C,gTt/gCt,MODERATE,COSM4145861(1),,,,0.37(T),0.003(B),,-1.0575(T),,chr11,56143539,56143539,T,C,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val147Ala/c.440T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val147Ala/c.440T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.427054(N),1.000(N),1.23(T),0.0389(T),0.275,0.082886,5.78,-11.6,-3.469000,-1.992000,-3.120000,0.000000,0.000000,0.000000,11.2394
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Pro148Pro/c.444T>C,ccT/ccC,LOW,COSM4145862(1),,,,,,,,,chr11,56143543,56143543,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro148Pro/c.444T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro148Pro/c.444T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Tyr149His/c.445T>C,Tat/Cat,MODERATE,COSM4145863(1),,,rs78532946,0.01(D),0.163(B),,-0.8695(T),,chr11,56143544,56143544,T,C,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr149His/c.445T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr149His/c.445T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.000514(D),0.595(N),1.14(T),0.1058(T),0.7,1.461049,5.78,5.78,0.523000,2.214000,4.496000,0.002000,0.815000,0.681000,13.8633
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Phe153Ile/c.457T>A,Ttc/Atc,MODERATE,COSM4145864(1),0.441893,0.3988,,0.11(T),0.107(B),,-0.8783(T),,chr11,56143556,56143556,T,A,het,"missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe153Ile/c.457T>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe153Ile/c.457T>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.4816,0.4265,0.4125,,,,,0.003492(N),1.000(N),8.63(T),0.0003(T),0.294,0.783088,5.78,-8.94,-2.129000,-0.918000,-0.026000,0.001000,0.000000,0.000000,3.5531
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu154Leu/c.460C>T,Cta/Tta,LOW,COSM4145865(2),0.441893,0.3988,rs74603674,,,,,,chr11,56143559,56143559,C,T,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu154Leu/c.460C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu154Leu/c.460C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.4816,0.4265,0.4125,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu154Leu/c.462A>G,ctA/ctG,LOW,COSM4145866(2),0.441893,0.3988,,,,,,,chr11,56143561,56143561,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu154Leu/c.462A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu154Leu/c.462A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.4816,0.4265,0.4125,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Met155Val/c.463A>G,Atg/Gtg,MODERATE,COSM4145867(2),0.441893,0.3988,rs80111030,0.54(T),0.001(B),,-0.9951(T),,chr11,56143562,56143562,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met155Val/c.463A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met155Val/c.463A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.4816,0.4265,0.4125,,,,,0.877107(N),1.000(N),1.3(T),0.0482(T),0.163,-1.597547,5.78,-2.12,-0.914000,-0.800000,-3.074000,0.000000,0.000000,0.000000,9.2153
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Met155Ile/c.465G>T,atG/atT,MODERATE,COSM4145868(2),0.441893,0.3988,rs77640279,0.17(T),0.002(B),0.39(N),-1.0311(T),,chr11,56143564,56143564,G,T,het,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met155Ile/c.465G>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met155Ile/c.465G>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.4816,0.4265,0.4125,,,,,0.877107(N),1.000(N),1.35(T),0.0374(T),0.28,-0.300822,5.78,-11.6,-1.692000,-2.261000,-10.373000,0.000000,0.000000,0.000000,6.4207
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu157Leu/c.471A>G,ctA/ctG,LOW,COSM4145869(1),,,rs11228169,,,,,,chr11,56143570,56143570,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu157Leu/c.471A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu157Leu/c.471A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu197Leu/c.591C>A,ctC/ctA,LOW,COSM4145870(1),,,rs4990123,,,,,,chr11,56143690,56143690,C,A,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu197Leu/c.591C>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu197Leu/c.591C>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ile199Ile/c.597C>T,atC/atT,LOW,COSM4145871(2),0.00259585,0.001,rs4990122,,,,,,chr11,56143696,56143696,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile199Ile/c.597C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atC/atT|p.Ile199Ile/c.597C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.0123,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Phe200Leu/c.600T>G,ttT/ttG,MODERATE,COSM3931346(7),0.138978,0.1617,rs4990121,0.4(T),0.029(B),0.345(N),-0.9442(T),,chr11,56143699,56143699,T,G,het,"missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe200Leu/c.600T>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe200Leu/c.600T>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.1217,0.1614,0.1312,,,,,0.264323(N),1.000(N),8.84(T),0.0002(T),0.283,0.115613,5.78,-10.9,-2.056000,-1.148000,-5.414000,0.000000,0.003000,0.000000,6.835
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Met206Thr/c.617T>C,aTg/aCg,MODERATE,COSM4145872(3),,,rs10896309,0.1(T),0.001(B),0.26(N),-0.9026(T),,chr11,56143716,56143716,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met206Thr/c.617T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met206Thr/c.617T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.229286(N),1.000(N),8.79(T),0.0002(T),0.301,-0.604246,5.78,-11.6,-4.179000,-3.064000,-4.912000,0.000000,0.000000,0.000000,11.6285
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Met206Ile/c.618G>A,atG/atA,MODERATE,COSM4145873(3),,,rs10896310,0.09(T),0.063(B),-0.8(N),-0.9405(T),,chr11,56143717,56143717,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met206Ile/c.618G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met206Ile/c.618G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.229286(N),1.000(N),8.82(T),0.0001(T),0.228,-0.124883,5.78,-8.74,-1.926000,-1.582000,-5.475000,0.000000,0.000000,0.000000,2.9203
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ile208Ile/c.624T>C,atT/atC,LOW,COSM4145874(3),,,rs12272349,,,,,,chr11,56143723,56143723,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile208Ile/c.624T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atT/atC|p.Ile208Ile/c.624T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Ser209Cys/c.626C>G,tCc/tGc,MODERATE,COSM4145875(3),,,rs77042014,0.34(T),0.011(B),1.35(L),-1.0286(T),,chr11,56143725,56143725,C,G,het,"missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser209Cys/c.626C>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser209Cys/c.626C>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.032579(N),1.000(N),1.18(T),0.0728(T),0.415,-1.318617,5.78,1.62,-2.179000,0.378000,-0.140000,0.000000,0.002000,0.000000,13.4276
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ser210Ser/c.630C>T,tcC/tcT,LOW,COSM4145876(3),,,rs55888197,,,,,,chr11,56143729,56143729,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser210Ser/c.630C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser210Ser/c.630C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Leu211Val/c.631C>G,Ctt/Gtt,MODERATE,,,,rs55860603,0.19(T),0.011(B),1.28(L),-1.0024(T),,chr11,56143730,56143730,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu211Val/c.631C>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu211Val/c.631C>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.927436(N),1.000(N),0.92(T),0.0742(T),0.199,-0.731078,5.64,-8.46,-1.780000,-1.220000,-9.422000,0.000000,0.000000,0.000000,13.3174
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ile221Ile/c.663C>T,atC/atT,LOW,COSM4145878(5),,,rs79307272,,,,,,chr11,56143762,56143762,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile221Ile/c.663C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atC/atT|p.Ile221Ile/c.663C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Ser223Phe/c.668C>T,tCt/tTt,MODERATE,COSM3746247(6),,,rs79705206,0.29(T),0.008(B),0.9(L),-1.0420(T),,chr11,56143767,56143767,C,T,het,"missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser223Phe/c.668C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser223Phe/c.668C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.034380(N),1.000(N),1.24(T),0.0601(T),0.485,-1.216450,5.78,2.87,-0.149000,0.787000,0.151000,0.033000,0.640000,0.000000,10.3022
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Glu232Glu/c.696G>A,gaG/gaA,LOW,COSM4145882(3),,,rs78729591,,,,,,chr11,56143795,56143795,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu232Glu/c.696G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu232Glu/c.696G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Gln235Arg/c.704A>G,cAg/cGg,MODERATE,COSM3736511(3),,,rs202193035,0.88(T),0.001(B),-0.54(N),-1.1127(T),,chr11,56143803,56143803,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln235Arg/c.704A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln235Arg/c.704A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.412923(N),1.000(N),8.8(T),0.0002(T),0.314,-2.479161,5.78,0.708,-0.255000,0.364000,-0.057000,0.001000,0.019000,0.000000,10.5622
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Gln235His/c.705G>C,caG/caC,MODERATE,COSM3735100(4),,,rs200433243,0.78(T),0.001(B),-0.425(N),-1.0991(T),,chr11,56143804,56143804,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln235His/c.705G>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln235His/c.705G>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.412923(N),1.000(N),8.92(T),0.0001(T),0.355,-2.596926,5.78,-2.3,-1.189000,-0.392000,-1.515000,0.000000,0.015000,0.000000,11.9672
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Lys236Lys/c.708G>A,aaG/aaA,LOW,COSM4145883(3),,,rs201727202,,,,,,chr11,56143807,56143807,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys236Lys/c.708G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys236Lys/c.708G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ala237Ala/c.711T>C,gcT/gcC,LOW,COSM1354639(7),,,rs201982103,,,,,,chr11,56143810,56143810,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ser239Ser/c.717G>C,tcG/tcC,LOW,COSM4145884(3),,,rs111512467,,,,,,chr11,56143816,56143816,G,C,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser239Ser/c.717G>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser239Ser/c.717G>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Thr240Thr/c.720G>C,acG/acC,LOW,COSM4145885(3),,,rs113312059,,,,,,chr11,56143819,56143819,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr240Thr/c.720G>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|acG/acC|p.Thr240Thr/c.720G>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Gly242Ser/c.724G>A,Ggc/Agc,MODERATE,COSM1180652(4),,,rs77614949,0.45(T),0.099(B),0.085(N),-1.0080(T),,chr11,56143823,56143823,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly242Ser/c.724G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly242Ser/c.724G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,0.225880(N),1.000(N),1.28(T),0.0358(T),0.296,0.513355,5.69,-5.6,-0.233000,-1.040000,-3.106000,0.004000,0.033000,0.000000,6.7794
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Gly253Gly/c.759G>C,ggG/ggC,LOW,COSM3953382(6),,,rs78068762,,,,,,chr11,56143858,56143858,G,C,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly253Gly/c.759G>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly253Gly/c.759G>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu255Leu/c.765C>G,ctC/ctG,LOW,COSM4145886(6),,,rs111260371,,,,,,chr11,56143864,56143864,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu255Leu/c.765C>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu255Leu/c.765C>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ile256Ile/c.768T>C,atT/atC,LOW,,,,rs111341120,,,,,,chr11,56143867,56143867,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile256Ile/c.768T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atT/atC|p.Ile256Ile/c.768T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Gln261Gln/c.783G>A,caG/caA,LOW,COSM3869479(3),,,rs113061820,,,,,,chr11,56143882,56143882,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln261Gln/c.783G>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|caG/caA|p.Gln261Gln/c.783G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Pro262Pro/c.786T>A,ccT/ccA,LOW,COSM4145888(4),,,rs111871244,,,,,,chr11,56143885,56143885,T,A,het,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro262Pro/c.786T>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro262Pro/c.786T>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ser264Ser/c.792T>A,tcT/tcA,LOW,COSM4145889(2),,,rs112265664,,,,,,chr11,56143891,56143891,T,A,het,"synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser264Ser/c.792T>A|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser264Ser/c.792T>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
splice_donor_variant,OR8U8,protein_coding,NM_001013356.2:c.799G>T,,HIGH,,,,rs373392784,1(T),0.001(B),-2.105(N),-0.9698(T),OR8U8:1.00(1);,chr11,56143898,56143898,G,T,het,"splice_donor_variant(HIGH|||c.799G>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala267Ser/c.799G>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),intron_variant(MODIFIER|||c.798+1G>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,0.009193(N),0.996(N),9.02(T),0.0001(T),0.287,-1.824597,5.69,3.35,-0.391000,0.432000,0.341000,0.014000,0.618000,0.001000,6.5404
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ala267Ala/c.801C>T,gcC/gcT,LOW,,,,rs202086525,,,,,,chr11,56143900,56143900,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala267Ala/c.801C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),intron_variant(MODIFIER|||c.798+3C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu268Leu/c.804G>T,ctG/ctT,LOW,,,,rs113434967,,,,,,chr11,56143903,56143903,G,T,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu268Leu/c.804G>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),intron_variant(MODIFIER|||c.799-5G>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
splice_acceptor_variant,OR8U8,protein_coding,NM_001013356.2:c.799C>T,,HIGH,,,,rs201664860,,,,,OR8U8:1.00(1);,chr11,56143906,56143906,C,T,het,"splice_acceptor_variant(HIGH|||c.799C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp269Asp/c.807C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),intron_variant(MODIFIER|||c.799-2C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
splice_acceptor_variant,OR8U8,protein_coding,NM_001013356.2:c.799A>G,,HIGH,,,,rs374830614,0.08(T),0.219(B),1.5(L),-1.0367(T),OR8U8:1.00(1);,chr11,56143907,56143907,A,G,het,"splice_acceptor_variant(HIGH|||c.799A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr270Ala/c.808A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),intron_variant(MODIFIER|||c.799-1A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,0.006534(N),0.999(N),8.74(T),0.0005(T),0.73,1.564941,5.69,3.35,0.472000,0.955000,0.196000,0.126000,1.000000,0.000000,6.5933
missense_variant,OR8U8,MISSENSE,NM_001013356.2:p.Gln276Arg/c.827A>G,cAg/cGg,MODERATE,,,,rs72925527,,,,,,chr11,56143936,56143936,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln276Arg/c.827A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|acA/acG|p.Thr279Thr/c.837A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U8,MISSENSE,NM_001013356.2:p.Ser278Leu/c.833C>T,tCa/tTa,MODERATE,,,,rs72925528,,,,,,chr11,56143942,56143942,C,T,het,"missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser278Leu/c.833C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atC/atT|p.Ile281Ile/c.843C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Leu288Leu/c.864A>G,ttA/ttG,LOW,,,,rs199998773,,,,,,chr11,56143963,56143963,A,G,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu288Leu/c.864A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),stop_retained_variant(LOW|SILENT|tAa/tGa|p.Ter285Ter/c.854A>G|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U8,MISSENSE,NM_001013356.2:p.Ser286Phe/c.857C>T,tCt/tTt,MODERATE,COSM4145890(1),0.200879,0.1369,rs12291978,,,,,,chr11,56143966,56143966,C,T,het,"missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser286Phe/c.857C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atC/atT|p.Ile289Ile/c.867C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,0.1677,0.1571,0.2654,0.27,0.25,0.27,,,,,,,,,,,,,,,,
missense_variant,OR8U8,MISSENSE,NM_001013356.2:p.Ile287Thr/c.860T>C,aTa/aCa,MODERATE,,,,,,,,,,chr11,56143969,56143969,T,C,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile287Thr/c.860T>C|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr290Tyr/c.870T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U8,MISSENSE,NM_001013356.2:p.Ala288Val/c.863C>T,gCc/gTc,MODERATE,,,,,,,,,,chr11,56143972,56143972,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala288Val/c.863C>T|287|OR8U8|protein_coding|CODING|NM_001013356.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|agC/agT|p.Ser291Ser/c.873C>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Gln293Lys/c.877C>A,Cag/Aag,MODERATE,,,,,0.04(D),0.002(B),-1.355(N),-0.8028(T),,chr11,56143976,56143976,C,A,het,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln293Lys/c.877C>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||1||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,0.000242(D),1.000(N),8.03(T),0.0003(T),0.395,0.067968,5.69,-3.32,-1.429000,-0.411000,0.361000,0.000000,0.030000,0.018000,20.3672
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Gln293Arg/c.878A>G,cAg/cGg,MODERATE,COSM3752475(1),0.321086,0.1379,rs12272403,1(T),0.0(B),-3.68(N),-1.0034(T),,chr11,56143977,56143977,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln293Arg/c.878A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||2||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.2249,0.2363,0.3579,0.41,0.51,0.36,,0.000242(N),1.000(P),8.03(T),0.0000(T),0.175,-1.832186,5.69,4.78,-0.200000,0.792000,3.683000,0.001000,0.596000,0.799000,9.794
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Asn294Asn/c.882T>C,aaT/aaC,LOW,,,,,,,,,,chr11,56143981,56143981,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn294Asn/c.882T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||6||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Lys295Lys/c.885G>A,aaG/aaA,LOW,,,,,,,,,,chr11,56143984,56143984,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys295Lys/c.885G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||9||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Glu296Asp/c.888G>T,gaG/gaT,MODERATE,,,,rs199932239,0.92(T),0.007(B),0.03(N),-0.9574(T),,chr11,56143987,56143987,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu296Asp/c.888G>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||12||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,0.164043(N),1.000(N),8.01(T),0.0002(T),0.428,-0.988938,5.69,-7.92,-0.247000,-1.278000,-4.943000,0.007000,0.770000,0.000000,7.6067
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Val297Val/c.891G>A,gtG/gtA,LOW,,,,,,,,,,chr11,56143990,56143990,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val297Val/c.891G>A|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||15||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Glu299Asp/c.897A>T,gaA/gaT,MODERATE,,,,rs201080515,0.68(T),0.001(B),0.425(N),-0.8890(T),,chr11,56143996,56143996,A,T,het,"missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu299Asp/c.897A>T|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||21||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,0.983151(N),1.000(N),7.74(T),0.0004(T),0.233,-2.438643,5.77,-11.5,-0.426000,-4.542000,-5.902000,0.064000,0.002000,0.000000,4.4841
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ala300Ala/c.900T>C,gcT/gcC,LOW,,,,,,,,,,chr11,56143999,56143999,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala300Ala/c.900T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||24||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8U1,MISSENSE,NM_001005204.1:p.Ile304Val/c.910A>G,Atc/Gtc,MODERATE,,0.000199681,0,rs202220399,1(T),0.0(B),-0.025(N),-0.9948(T),,chr11,56144009,56144009,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile304Val/c.910A>G|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||34||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0,0,0.001,,,,,0.816049(N),1.000(N),8.45(T),0.0002(T),0.265,-0.898906,5.77,-4.54,-0.210000,-0.175000,-0.468000,0.152000,0.006000,0.000000,1.3348
synonymous_variant,OR8U1,SILENT,NM_001005204.1:p.Ile305Ile/c.915T>C,atT/atC,LOW,,,,,,,,,,chr11,56144014,56144014,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile305Ile/c.915T>C|309|OR8U1|protein_coding|CODING|NM_001005204.1|1|1),downstream_gene_variant(MODIFIER||39||287|OR8U8|protein_coding|CODING|NM_001013356.2||1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR5R1,MISSENSE,NM_001004744.1:p.Phe184Leu/c.550T>C,Ttc/Ctc,MODERATE,COSM3752476(1),0.282348,0.1369,rs7930678,1(T),0.001(B),-2.93(N),-0.8988(T),,chr11,56185159,56185159,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe184Leu/c.550T>C|324|OR5R1|protein_coding|CODING|NM_001004744.1|1|1),,,,,0.1677,0.1916,0.2664,0.35,0.50,0.28,,,1.000(P),9.01(T),0.0000(T),0.056,-0.775389,5.72,2.66,-0.200000,0.360000,-0.573000,0.746000,0.062000,0.000000,3.8239
missense_variant,OR5R1,MISSENSE,NM_001004744.1:p.Ser128Gly/c.382A>G,Agt/Ggt,MODERATE,COSM3752477(1),0.277756,0.123,rs7933772,0.01(D),0.071(B),1.995(M),-1.0384(T),,chr11,56185327,56185327,T,C,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser128Gly/c.382A>G|324|OR5R1|protein_coding|CODING|NM_001004744.1|1|1),,,,,0.1656,0.1816,0.2664,0.35,0.50,0.28,,0.038084(U),1.000(P),7.13(T),0.0000(T),0.061,2.686423,5.78,4.66,0.391000,2.211000,0.565000,0.907000,0.329000,0.000000,10.9674
missense_variant,OR5R1,MISSENSE,NM_001004744.1:p.Cys122Arg/c.364T>C,Tgc/Cgc,MODERATE,,0.769768,0.7798,rs6591324,1(T),0.0(B),-2.53(N),-1.0264(T),,chr11,56185345,56185345,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys122Arg/c.364T>C|324|OR5R1|protein_coding|CODING|NM_001004744.1|1|1),,,,,0.7986,0.8285,0.7247,0.75,0.76,0.74,,0.004951(N),0.028(P),3.55(T),0.0000(T),0.05,-0.670930,5.78,2.72,-1.194000,0.377000,2.048000,0.796000,0.834000,0.974000,6.0809
missense_variant,OR5R1,MISSENSE,NM_001004744.1:p.Asp121Gly/c.362A>G,gAt/gGt,MODERATE,,0.0371406,0.001,rs7111634,0(D),0.94(D),4.27(H),-1.0975(T),,chr11,56185347,56185347,T,C,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp121Gly/c.362A>G|324|OR5R1|protein_coding|CODING|NM_001004744.1|1|1),,,,,0.0573,0.0432,0.0944,0.06,0.01,0.08,,0.004674(U),0.995(D),4.41(T),0.0028(T),0.471,4.480206,5.78,5.78,0.391000,2.211000,7.811000,0.844000,0.984000,1.000000,15.7602
missense_variant,OR5R1,MISSENSE,NM_001004744.1:p.Cys103Tyr/c.308G>A,tGt/tAt,MODERATE,,0.0371406,0.001,rs7123108,0(D),0.689(P),0.935(L),-0.7262(T),,chr11,56185401,56185401,C,T,het,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys103Tyr/c.308G>A|324|OR5R1|protein_coding|CODING|NM_001004744.1|1|1),,,,,0.0573,0.0432,0.0944,0.06,0.01,0.08,,0.003163(U),1.000(N),8.47(T),0.0000(T),0.292,2.163974,5.78,2.59,0.478000,1.436000,0.269000,0.673000,0.959000,0.000000,14.8151
missense_variant,OR5R1,MISSENSE,NM_001004744.1:p.Ile7Thr/c.20T>C,aTt/aCt,MODERATE,COSM1127748(1),0.282548,0.1369,rs7931261,1(T),0.0(B),-2.905(N),-0.9786(T),,chr11,56185689,56185689,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile7Thr/c.20T>C|324|OR5R1|protein_coding|CODING|NM_001004744.1|1|1),,,,,0.1677,0.1916,0.2664,0.35,0.50,0.28,,0.099479(N),1.000(P),4.13(T),0.0000(T),0.034,-0.623366,5.7,5.7,-0.695000,1.434000,0.400000,0.307000,0.004000,0.000000,9.7118
missense_variant,OR5M9,MISSENSE,NM_001004743.1:p.Lys270Arg/c.809A>G,aAa/aGa,MODERATE,,0.0363419,0.001,rs1945237,0.01(D),1.0(D),1.825(L),-0.8672(T),,chr11,56230069,56230069,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys270Arg/c.809A>G|310|OR5M9|protein_coding|CODING|NM_001004743.1|1|1),,,,,0.0542,0.0432,0.0934,0.06,0.01,0.08,,0.000362(D),1.000(N),8.59(T),0.0001(T),0.06,2.231716,4.29,4.29,0.443000,1.707000,1.180000,0.275000,0.466000,0.028000,11.6683
missense_variant,OR5M9,MISSENSE,NM_001004743.1:p.Pro253Leu/c.758C>T,cCc/cTc,MODERATE,,0.0650958,0.001,rs61902868,1(T),0.0(B),-3.075(N),-1.0052(T),,chr11,56230120,56230120,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro253Leu/c.758C>T|310|OR5M9|protein_coding|CODING|NM_001004743.1|1|1),,,,,0.0542,0.0432,0.0934,0.09,0.10,0.08,,0.001472(N),1.000(P),8.89(T),0.0000(T),0.048,-2.280342,4.39,3.16,-0.442000,0.644000,-0.177000,0.014000,0.101000,0.000000,5.6082
missense_variant,OR5M9,MISSENSE,NM_001004743.1:p.Gln184Lys/c.550C>A,Cag/Aag,MODERATE,,0.0650958,0.001,rs61902869,0.65(T),0.0(B),-1.69(N),-1.1343(T),,chr11,56230328,56230328,G,T,het,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln184Lys/c.550C>A|310|OR5M9|protein_coding|CODING|NM_001004743.1|1|1),,,,,0.0542,0.0432,0.0934,0.09,0.10,0.08,,0.000288(N),1.000(P),9.12(T),0.0000(T),0.024,-0.673770,4.39,3.25,-0.407000,0.653000,-0.367000,0.830000,1.000000,0.000000,3.397
synonymous_variant,OR5M9,SILENT,NM_001004743.1:p.Ser135Ser/c.405T>C,tcT/tcC,LOW,,0.066893,0.001,rs61902870,,,,,,chr11,56230473,56230473,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser135Ser/c.405T>C|310|OR5M9|protein_coding|CODING|NM_001004743.1|1|1),,,,,0.0542,0.0447,0.0934,0.09,0.11,0.08,,,,,,,,,,,,,,,,
synonymous_variant,OR5M9,SILENT,NM_001004743.1:p.Thr89Thr/c.267C>A,acC/acA,LOW,,0.0363419,0.001,rs79837116,,,,,,chr11,56230611,56230611,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr89Thr/c.267C>A|310|OR5M9|protein_coding|CODING|NM_001004743.1|1|1),,,,,0.0542,0.0432,0.0934,0.06,0.01,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5M9,MISSENSE,NM_001004743.1:p.Ala67Val/c.200C>T,gCg/gTg,MODERATE,,0.103634,0.001,rs61902871,1(T),0.0(B),-1.34(N),-0.9340(T),,chr11,56230678,56230678,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala67Val/c.200C>T|310|OR5M9|protein_coding|CODING|NM_001004743.1|1|1),,,,,0.0542,0.062,0.0934,0.13,0.21,0.08,,0.000938(N),1.000(P),4.14(T),0.0000(T),0.045,-1.372847,4.85,3.72,-1.839000,0.296000,0.408000,0.666000,0.971000,0.000000,6.9898
synonymous_variant,OR5M3,SILENT,NM_001004742.2:p.Asn82Asn/c.246C>T,aaC/aaT,LOW,,0.0363419,0.001,rs79240946,,,,,,chr11,56237728,56237728,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn82Asn/c.246C>T|307|OR5M3|protein_coding|CODING|NM_001004742.2|1|1),,,,,0.0542,0.0432,0.0934,0.06,0.01,0.08,,,,,,,,,,,,,,,,
missense_variant,OR5M3,MISSENSE,NM_001004742.2:p.Asn3Ser/c.8A>G,aAt/aGt,MODERATE,,0.0363419,0.001,rs77400854,0(D),0.998(D),2.65(M),-1.1683(T),,chr11,56237966,56237966,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn3Ser/c.8A>G|307|OR5M3|protein_coding|CODING|NM_001004742.2|1|1),,,,,0.0542,0.0432,0.0934,0.06,0.01,0.08,,0.000453(D),0.963(N),4.42(T),0.0015(T),0.163,3.468726,4.91,4.91,0.391000,1.837000,4.870000,0.885000,1.000000,1.000000,12.4879
missense_variant,OR5M11,MISSENSE,NM_001005245.1:p.Val280Leu/c.838G>C,Gtg/Ctg,MODERATE,,0.0427316,0.001,rs17547207,0.04(D),0.075(B),1.5(L),-0.9796(T),,chr11,56309896,56309896,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val280Leu/c.838G>C|305|OR5M11|protein_coding|CODING|NM_001005245.1|1|1),,,,,0.0624,0.0504,0.0974,0.07,0.03,0.08,,,0.987(N),8.5(T),0.0000(T),0.054,0.661369,4.85,1.96,-0.162000,0.282000,-0.875000,0.315000,0.864000,0.000000,6.4432
missense_variant,OR5M11,MISSENSE,NM_001005245.1:p.Ser171Asn/c.512G>A,aGt/aAt,MODERATE,,0.69389,0.875,rs386602187,1(T),0.001(B),-2.71(N),-1.0000(T),,chr11,56310222,56310222,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser171Asn/c.512G>A|305|OR5M11|protein_coding|CODING|NM_001005245.1|1|1),,,,,0.8538,0.7651,0.7455,0.65,0.44,0.75,,,1.000(P),9.04(T),0.0000(T),0.012,-0.688012,5.1,3.98,-0.285000,0.447000,-0.108000,0.900000,1.000000,0.001000,8.6362
stop_gained,OR5M11,NONSENSE,NM_001005245.1:p.Tyr126*/c.378T>A,taT/taA,HIGH,,0.0427316,0.001,rs17547284,0.01(D),,,,,chr11,56310356,56310356,A,T,het,stop_gained(HIGH|NONSENSE|taT/taA|p.Tyr126*/c.378T>A|305|OR5M11|protein_coding|CODING|NM_001005245.1|1|1),,,,,0.0624,0.0504,0.0974,0.06,0.03,0.08,,,1.000(D),,,.,1.360980,5.1,-0.628,-0.463000,-0.268000,-0.620000,0.247000,0.294000,0.000000,9.2036
missense_variant,OR5AP2,MISSENSE,NM_001002925.1:p.Ala105Thr/c.313G>A,Gcc/Acc,MODERATE,COSM3752483(1),0.117812,0,rs11606499,0.74(T),0.003(B),0.375(N),-0.9575(T),,chr11,56409603,56409603,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala105Thr/c.313G>A|316|OR5AP2|protein_coding|CODING|NM_001002925.1|1|1),,,,,0.0368,0.1037,0.1392,0.18,0.27,0.14,,0.028839(N),1.000(P),"4.99,4.99(T,T)",0.0000(T),0.074,-0.324119,5.06,3.18,0.637000,0.700000,-0.013000,0.935000,0.966000,0.000000,9.4638
stop_gained,OR5AR1,NONSENSE,NM_001004730.1:p.Gln19*/c.55C>T,Cag/Tag,HIGH,COSM4145892(1),0.623003,0.7857,rs11228710,0.02(D),,,,,chr11,56431216,56431216,C,T,het,stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln19*/c.55C>T|310|OR5AR1|protein_coding|CODING|NM_001004730.1|1|1),,,,,0.7802,0.7406,0.6879,0.57,0.34,0.69,,0.000387(D),0.000(P),,,.,3.834831,5.33,5.33,0.637000,2.780000,0.906000,0.952000,0.997000,0.005000,14.4814
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.His6His/c.18T>C,caT/caC,LOW,COSM4145893(1),0.000199681,0,rs73474900,,,,,,chr11,56467881,56467881,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His6His/c.18T>C|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|caT/caC|p.His6His/c.18T>C|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)","HMEC:DNase1,NHEK:DNase1",,,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Gly21Gly/c.63A>G,ggA/ggG,LOW,COSM4145894(1),0.00179712,0,rs1704284,,,,,,chr11,56467926,56467926,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly21Gly/c.63A>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly21Gly/c.63A>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)","HMEC:DNase1,NHEK:DNase1",,,,0.0092,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Val28Leu/c.82G>T,Gtg/Ttg,MODERATE,,0.000798722,0.001,rs36184181,0.82(T),0.024(B),0.175(N),-0.9926(T),,chr11,56467945,56467945,G,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val28Leu/c.82G>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val28Leu/c.82G>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)","HMEC:DNase1,NHEK:DNase1",,,,0.0031,0,0,0.23,0.11,0.29,,0.036723(N),1.000(N),7.38(T),0.0000(T),0.11,-1.408655,4.52,2.63,0.573000,0.621000,-0.943000,0.011000,0.006000,0.000000,9.4573
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Cys53Arg/c.157T>C,Tgc/Cgc,MODERATE,,0.412141,0.2312,rs532637,1(T),0.0(B),-1.9(N),-1.0751(T),,chr11,56468020,56468020,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys53Arg/c.157T>C|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys53Arg/c.157T>C|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.2618,0.3098,0.4105,,,,,0.148883(N),1.000(P),5.48(T),0.0000(T),0.086,-2.581090,4.52,-1.44,-0.230000,-0.699000,-1.895000,0.281000,0.035000,0.000000,7.521
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Cys53Tyr/c.158G>A,tGc/tAc,MODERATE,,0.000599042,0,rs532635,0.02(D),0.0(B),0.55(N),-1.0039(T),,chr11,56468021,56468021,G,A,het,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys53Tyr/c.158G>A|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys53Tyr/c.158G>A|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0,0,0.003,,,,,0.148883(N),1.000(P),5.38(T),0.0032(T),0.205,-0.324600,4.52,-1.04,-1.023000,-0.277000,-0.103000,0.218000,0.030000,0.000000,10.448
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Phe61Val/c.181T>G,Ttc/Gtc,MODERATE,COSM4145895(1),0.58147,0.7688,rs3975155,0(D),0.109(B),3.88(H),-1.0260(T),,chr11,56468044,56468044,T,G,het,"missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe61Val/c.181T>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe61Val/c.181T>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.7393,0.6888,0.5885,,,,,0.000033(D),0.382(P),2.51(T),0.0000(T),0.64,1.089062,4.54,3.37,0.477000,0.821000,3.106000,0.254000,0.998000,0.997000,3.8413
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Thr62Ala/c.184A>G,Act/Gct,MODERATE,,0.580272,0.7688,rs2865519,0(D),0.017(B),-0.345(N),-1.0627(T),,chr11,56468047,56468047,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr62Ala/c.184A>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr62Ala/c.184A>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.7393,0.6873,0.5885,,,,,0.012553(N),1.000(P),4.1(T),0.0000(T),0.211,0.893498,4.54,4.54,0.477000,2.013000,0.179000,0.138000,0.961000,0.538000,10.2627
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Thr62Ile/c.185C>T,aCt/aTt,MODERATE,,0.998203,1,rs2865520,0.07(T),0.0(B),-2.635(N),-0.9155(T),,chr11,56468048,56468048,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr62Ile/c.185C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr62Ile/c.185C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,1,1,0.999,1.00,0.99,1.00,,0.012553(N),0.999(P),4.17(T),0.0000(T),0.099,-0.228469,4.54,2.17,-0.324000,0.342000,2.725000,0.061000,0.615000,0.569000,8.7601
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Thr83Ile/c.248C>T,aCc/aTc,MODERATE,,,,rs602224,0.02(D),0.049(B),0.69(N),-0.9176(T),,chr11,56468111,56468111,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr83Ile/c.248C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr83Ile/c.248C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,0.001092(N),1.000(N),7.55(T),0.0007(T),0.074,-0.589112,4.54,1.58,-0.225000,0.225000,-0.107000,0.072000,0.219000,0.000000,4.0592
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Cys98Gly/c.292T>G,Tgt/Ggt,MODERATE,COSM4145896(1),0.361821,0.2292,rs11228732,0.04(D),0.019(B),0.145(N),-0.9823(T),,chr11,56468155,56468155,T,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys98Gly/c.292T>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys98Gly/c.292T>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.2045,0.2507,0.3091,,,,,0.575322(N),1.000(N),5.0(T),0.0000(T),0.435,0.244291,4.54,-1.49,-0.356000,-0.374000,-2.671000,0.400000,0.000000,0.000000,5.7266
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Tyr112Cys/c.335A>G,tAc/tGc,MODERATE,,0.00559105,0,rs4990194,0.01(D),0.999(D),1.04(L),-0.9090(T),,chr11,56468198,56468198,A,G,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr112Cys/c.335A>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr112Cys/c.335A>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.001,0.0072,0.0219,,,,,0.004339(N),0.570(D),5.56(T),0.0076(T),0.754,1.431556,4.54,3.39,0.477000,0.837000,0.229000,0.138000,0.996000,0.000000,9.8642
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Leu113Leu/c.337C>T,Ctg/Ttg,LOW,,0.00559105,0,rs4990195,,,,,,chr11,56468200,56468200,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu113Leu/c.337C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu113Leu/c.337C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.001,0.0072,0.0219,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Leu113Leu/c.339G>A,ctG/ctA,LOW,,0.00559105,0,rs4990196,,,,,,chr11,56468202,56468202,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu113Leu/c.339G>A|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu113Leu/c.339G>A|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.001,0.0072,0.0219,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Val117Met/c.349G>A,Gtg/Atg,MODERATE,,0.0119808,0.001,rs591369,1(T),0.0(B),-3.75(N),-0.9421(T),,chr11,56468212,56468212,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val117Met/c.349G>A|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val117Met/c.349G>A|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.0092,0.0216,0.0328,,,,,0.000002(N),1.000(N),5.7(T),0.0004(T),0.248,-1.105975,4.54,4.54,-0.352000,0.860000,5.268000,0.169000,1.000000,1.000000,10.1934
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Ala132Ala/c.396C>T,gcC/gcT,LOW,,,,rs503776,,,,,,chr11,56468259,56468259,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala132Ala/c.396C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala132Ala/c.396C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Arg169Cys/c.505C>T,Cgt/Tgt,MODERATE,,0.000798722,0,rs11228733,0.02(D),0.67(P),2.235(M),-0.9779(T),,chr11,56468368,56468368,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg169Cys/c.505C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg169Cys/c.505C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0,0.0043,0,,,,,0.086381(N),1.000(N),1.17(T),0.0000(T),0.159,1.622619,4.52,-6.62,-0.526000,-1.435000,-0.527000,0.103000,0.000000,0.000000,9.0834
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Leu180Leu/c.540G>A,ttG/ttA,LOW,,,,rs11228734,,,,,,chr11,56468403,56468403,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu180Leu/c.540G>A|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu180Leu/c.540G>A|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Glu185Lys/c.553G>A,Gag/Aag,MODERATE,COSM4145898(1),,,rs11228735,0.64(T),0.001(B),-1.7(N),-0.8893(T),,chr11,56468416,56468416,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu185Lys/c.553G>A|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu185Lys/c.553G>A|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,0.033639(N),1.000(N),9.06(T),0.0000(T),0.107,-1.238785,4.52,2.14,-0.345000,0.329000,0.503000,0.558000,0.982000,0.000000,1.207
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Lys195Lys/c.585A>G,aaA/aaG,LOW,,,,rs80194264,,,,,,chr11,56468448,56468448,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys195Lys/c.585A>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys195Lys/c.585A>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,RCV000069498.2,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Ile196Phe/c.586A>T,Att/Ttt,MODERATE,,,,rs78119083,0.01(D),0.003(B),1.855(L),-0.9200(T),,chr11,56468449,56468449,A,T,het,"missense_variant(MODERATE|MISSENSE|Att/Ttt|p.Ile196Phe/c.586A>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Att/Ttt|p.Ile196Phe/c.586A>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,0.036456(N),1.000(N),8.63(T),0.0005(T),0.145,-0.484486,3.97,-3.79,-1.933000,-0.730000,-2.471000,0.000000,0.000000,0.000000,0.8701
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Met197Leu/c.589A>C,Atg/Ctg,MODERATE,,,,rs79970235,0.43(T),0.001(B),-1.53(N),-1.0668(T),,chr11,56468452,56468452,A,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met197Leu/c.589A>C|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met197Leu/c.589A>C|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,0.319918(N),1.000(N),1.35(T),0.0210(T),0.125,-1.894747,3.97,-4.4,-2.820000,-1.818000,-4.979000,0.003000,0.000000,0.000000,1.4188
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Ala210Ala/c.630A>G,gcA/gcG,LOW,,0.158147,0.122,rs10792053,,,,,,chr11,56468493,56468493,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala210Ala/c.630A>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala210Ala/c.630A>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.1145,0.121,0.1163,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Lys231Gln/c.691A>C,Aag/Cag,MODERATE,,0.0650958,0.0437,rs12420076,0.15(T),0.0(B),-0.05(N),-0.9630(T),,chr11,56468554,56468554,A,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys231Gln/c.691A>C|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys231Gln/c.691A>C|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.0368,0.0562,0.0467,0.38,0.44,0.35,,0.017608(N),1.000(P),8.89(T),0.0000(T),0.082,-0.893558,5.14,0.767,-0.161000,0.604000,-1.415000,0.021000,1.000000,0.000000,3.8431
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Tyr233His/c.697T>C,Tac/Cac,MODERATE,,0.0784744,0.0605,rs10896516,0.06(T),0.0(B),-0.345(N),-0.9026(T),,chr11,56468560,56468560,T,C,het,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr233His/c.697T>C|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr233His/c.697T>C|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.044,0.0692,0.0606,,,,,0.010071(N),1.000(N),8.76(T),0.0000(T),0.106,0.364083,5.14,1.72,-0.154000,0.270000,-0.204000,0.064000,0.476000,0.000000,4.2182
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Tyr233Cys/c.698A>G,tAc/tGc,MODERATE,,0.0790735,0.0605,rs10896517,0.01(D),0.0(B),-0.55(N),-0.9172(T),,chr11,56468561,56468561,A,G,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr233Cys/c.698A>G|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr233Cys/c.698A>G|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.044,0.0692,0.0606,,,,,0.010071(N),1.000(N),8.74(T),0.0000(T),0.194,-0.295183,4.62,-0.493,-0.780000,-0.176000,0.523000,0.077000,0.472000,0.000000,9.9681
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Tyr258Tyr/c.774C>T,taC/taT,LOW,COSM147233(1),,,rs76884192,,,,,,chr11,56468637,56468637,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr258Tyr/c.774C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr258Tyr/c.774C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Ala259Ser/c.775G>T,Gct/Tct,MODERATE,,0.109425,0.0129,rs7121276,0.09(T),0.019(B),0.33(N),-1.0141(T),,chr11,56468638,56468638,G,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala259Ser/c.775G>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala259Ser/c.775G>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,0.0348,0.098,0.1402,0.15,0.20,0.13,,0.976244(N),1.000(N),1.2(T),0.0000(T),0.064,-0.988898,4.62,-9.23,-1.120000,-2.019000,-3.055000,0.056000,0.000000,0.000000,2.053
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Pro261Pro/c.783C>T,ccC/ccT,LOW,COSM147234(1),,,rs78493274,,,,,,chr11,56468646,56468646,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro261Pro/c.783C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro261Pro/c.783C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR9G1,SILENT,NM_001005213.1:p.Tyr277Tyr/c.831C>T,taC/taT,LOW,,,,rs79060400,,,,,,chr11,56468694,56468694,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr277Tyr/c.831C>T|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr277Tyr/c.831C>T|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Val279Glu/c.836T>A,gTg/gAg,MODERATE,,,,rs79251113,0(D),0.988(D),4.015(H),-1.0325(T),,chr11,56468699,56468699,T,A,het,"missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val279Glu/c.836T>A|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val279Glu/c.836T>A|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,0.000169(D),0.208(P),8.13(T),0.0040(T),0.897,1.922203,4.62,4.62,0.519000,2.044000,5.198000,0.035000,0.287000,0.717000,14.1253
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Phe281Leu/c.841T>C,Ttc/Ctc,MODERATE,COSM4145899(1),,,rs79288825,0(D),0.06(B),0.09(N),-1.0249(T),,chr11,56468704,56468704,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe281Leu/c.841T>C|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe281Leu/c.841T>C|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,0.000026(D),1.000(P),1.24(T),0.0497(T),0.158,1.895091,4.62,3.4,0.519000,2.044000,-0.360000,0.792000,0.972000,0.000000,9.31
missense_variant,OR9G1,MISSENSE,NM_001005213.1:p.Leu286Pro/c.857T>C,cTc/cCc,MODERATE,COSM4145900(1),,,rs66943455,1(T),0.0(B),-4.28(N),-0.8861(T),,chr11,56468720,56468720,T,C,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu286Pro/c.857T>C|305|OR9G1|protein_coding|CODING|NM_001005213.1|1|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu286Pro/c.857T>C|305|OR9G9|protein_coding|CODING|NM_001013358.2|1|1)",,,,,,,,,,,,0.000054(N),0.954(D),2.5(T),0.0035(T),0.3,-0.318120,4.62,4.62,-0.154000,1.281000,3.981000,0.964000,0.998000,0.828000,13.1551
missense_variant,OR9G4,MISSENSE,NM_001005284.1:p.Val222Ala/c.665T>C,gTa/gCa,MODERATE,COSM3752485(2),0.188698,0.0853,rs513873,0.45(T),0.994(D),1.07(L),-0.9916(T),,chr11,56510623,56510623,A,G,het,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val222Ala/c.665T>C|327|OR9G4|protein_coding|CODING|NM_001005284.1|1|1),upstream_gene_variant(MODIFIER||726|||MIR6128||NON_CODING|NR_106743.1||1)",,,,,0.1646,0.1599,0.2992,0.29,0.24,0.32,,0.002985(N),0.554(P),1.16(T),0.0000(T),0.191,2.452759,5.07,5.07,0.523000,2.131000,3.072000,0.912000,0.991000,0.047000,13.8217
missense_variant,OR9G4,MISSENSE,NM_001005284.1:p.Asn206Asp/c.616A>G,Aac/Gac,MODERATE,,0.987819,1,rs577576,1(T),0.001(B),-1.945(N),-0.9604(T),,chr11,56510672,56510672,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn206Asp/c.616A>G|327|OR9G4|protein_coding|CODING|NM_001005284.1|1|1),upstream_gene_variant(MODIFIER||677|||MIR6128||NON_CODING|NR_106743.1||1)",,,,,1,1,1,0.99,0.97,1.00,,0.020708(N),1.000(P),9.0(T),0.0000(T),0.007,-0.946079,5.07,5.07,-0.131000,1.384000,0.693000,0.499000,1.000000,0.028000,9.1796
synonymous_variant,OR9G4,SILENT,NM_001005284.1:p.Pro198Pro/c.594A>G,ccA/ccG,LOW,COSM3752486(1),0.130192,0.0119,rs1397053,,,,,,chr11,56510694,56510694,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro198Pro/c.594A>G|327|OR9G4|protein_coding|CODING|NM_001005284.1|1|1),upstream_gene_variant(MODIFIER||655|||MIR6128||NON_CODING|NR_106743.1||1)",,,,,0.0685,0.1268,0.2147,0.22,0.21,0.22,,,,,,,,,,,,,,,,
missense_variant,OR5AK2,MISSENSE,NM_001005323.1:p.Met92Ile/c.276G>A,atG/atA,MODERATE,COSM3752491(1),0.709465,0.7093,rs2853083,1(T),0.0(B),-2.75(N),-0.9025(T),,chr11,56756664,56756664,G,A,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met92Ile/c.276G>A|309|OR5AK2|protein_coding|CODING|NM_001005323.1|1|1),,,,,0.5818,0.562,0.6183,0.70,0.89,0.60,,0.000424(N),1.000(P),7.58(T),0.0000(T),0.053,-2.995251,3.99,-4.2,-1.220000,-0.841000,-2.541000,0.002000,0.001000,0.000000,0.9723
synonymous_variant,OR5AK2,SILENT,NM_001005323.1:p.Gly211Gly/c.633G>A,ggG/ggA,LOW,,0.163139,0.1458,rs61886711,,,,,,chr11,56757021,56757021,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly211Gly/c.633G>A|309|OR5AK2|protein_coding|CODING|NM_001005323.1|1|1),,,,,0.2137,0.1081,0.2177,0.16,0.12,0.18,,,,,,,,,,,,,,,,
synonymous_variant,LRRC55,SILENT,NM_001005210.2:p.Phe306Phe/c.918C>T,ttC/ttT,LOW,COSM3752492(1),0.241813,0.1925,rs386608044,,,,,,chr11,56954846,56954846,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe306Phe/c.918C>T|341|LRRC55|protein_coding|CODING|NM_001005210.2|2|1),,,,,0.274,0.255,0.3817,0.31,0.18,0.38,,,,,,,,,,,,,,,,
synonymous_variant,APLNR,SILENT,NM_005161.4:p.Gly45Gly/c.135C>A,ggC/ggA,LOW,COSM292362(3),0.584665,0.7113,rs948847,,,,,,chr11,57004344,57004344,G,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly45Gly/c.135C>A|380|APLNR|protein_coding|CODING|NM_005161.4|1|1),non_coding_exon_variant(MODIFIER|||n.584C>A||APLNR||CODING|NR_027991.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:H3K4me2",,,,0.7137,0.6412,0.5577,0.52,0.44,0.55,,,,,,,,,,,,,,,,
synonymous_variant,TNKS1BP1,SILENT,NM_033396.2:p.Gln907Gln/c.2721A>G,caA/caG,LOW,COSM3752502(2),0.331669,0.2827,rs10896602,,,,,,chr11,57077464,57077464,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln907Gln/c.2721A>G|1729|TNKS1BP1|protein_coding|CODING|NM_033396.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3",,,,0.2761,0.2522,0.33,0.36,0.43,0.32,,,,,,,,,,,,,,,,
missense_variant,TNKS1BP1,MISSENSE,NM_033396.2:p.Thr322Ser/c.965C>G,aCt/aGt,MODERATE,COSM3752503(3),0.486821,0.7063,rs4939134,1(T),0.0(B),-0.895(N),-0.9502(T),,chr11,57081197,57081197,G,C,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr322Ser/c.965C>G|1729|TNKS1BP1|protein_coding|CODING|NM_033396.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6626,0.6268,0.5457,0.40,0.15,0.53,,,1.000(P),"1.71,1.71(T,T)",0.0000(T),0.022,-0.360917,4.11,2.23,-0.364000,0.348000,0.130000,0.504000,0.786000,0.001000,3.5604
missense_variant,TNKS1BP1,MISSENSE,NM_033396.2:p.Ala100Pro/c.298G>C,Gca/Cca,MODERATE,,0.0175719,0.001,rs34448143,0.08(T),0.074(B),0.55(N),-1.0687(T),,chr11,57087983,57087983,C,G,het,missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala100Pro/c.298G>C|1729|TNKS1BP1|protein_coding|CODING|NM_033396.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.046,0.0317,0.0199,0.01,0.00,0.02,,0.054997(N),0.982(N),"1.4,1.4(T,T)",0.0156(T),0.281,2.211251,4.68,1.43,0.563000,0.541000,0.670000,0.749000,1.000000,0.274000,1.2122
missense_variant,PRG3,MISSENSE,NM_006093.3:p.Ile109Thr/c.326T>C,aTc/aCc,MODERATE,,0.958466,0.996,rs540687,1(T),0.0(B),-0.49(N),-0.9741(T),,chr11,57147016,57147016,A,G,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile109Thr/c.326T>C|225|PRG3|protein_coding|CODING|NM_006093.3|3|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:Nrsf,H1ESC:Nrsf,K562:Nrsf",,,,0.9928,0.9841,1,0.95,0.87,1.00,,0.865404(N),1.000(P),1.04(T),0.0000(T),0.021,-1.140385,5.1,-0.445,-0.186000,-0.543000,-0.623000,0.005000,0.000000,0.000000,3.2035
missense_variant,PRG3,MISSENSE,NM_006093.3:p.Cys3Arg/c.7T>C,Tgc/Cgc,MODERATE,,0.957867,0.996,rs669661,0.8(T),0.0(B),1.39(L),-0.9736(T),,chr11,57148175,57148175,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys3Arg/c.7T>C|225|PRG3|protein_coding|CODING|NM_006093.3|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9898,0.9841,1,0.95,0.87,1.00,,0.000212(N),1.000(P),3.72(T),0.0000(T),0.042,2.287376,5.76,-5.95,-1.617000,-2.247000,-1.016000,0.001000,0.000000,0.000000,3.2173
missense_variant,PRG2,MISSENSE,NM_002728.4:p.His206Tyr/c.616C>T,Cac/Tac,MODERATE,,0.884984,0.996,rs386598475,0.33(T),"0.078,0.479(B,P)",1.035(L),-0.9727(T),,chr11,57155001,57155001,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His195Tyr/c.583C>T|211|PRG2|protein_coding|CODING|NM_001243245.1|6|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His206Tyr/c.616C>T|222|PRG2|protein_coding|CODING|NM_002728.4|6|1)","NHEK:CTCF,K562:CTCF,HUVEC:CTCF,IMR90:H3K27me3,HepG2:H3K27me3,HepG2:Rad21,K562:DNase1",,,,0.9928,0.9697,0.997,0.88,0.65,1.00,,0.257502(N),1.000(P),"2.21,2.21,2.21(T,T,T)",0.0000(T),0.114,1.587838,4.92,3.03,0.650000,0.463000,0.974000,0.064000,0.504000,0.003000,6.8289
synonymous_variant,PRG2,SILENT,NM_002728.4:p.Ala183Ala/c.549A>G,gcA/gcG,LOW,,0.941094,0.996,rs630396,,,,,,chr11,57155288,57155288,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala172Ala/c.516A>G|211|PRG2|protein_coding|CODING|NM_001243245.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala183Ala/c.549A>G|222|PRG2|protein_coding|CODING|NM_002728.4|5|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9928,0.9784,0.999,0.94,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PRG2,SILENT,NM_002728.4:p.Leu5Leu/c.13T>C,Tta/Cta,LOW,,0.752196,0.7718,rs386596304,,,,,,chr11,57157405,57157405,A,G,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu5Leu/c.13T>C|211|PRG2|protein_coding|CODING|NM_001243245.1|2|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu5Leu/c.13T>C|222|PRG2|protein_coding|CODING|NM_002728.4|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8589,0.8343,0.7406,0.70,0.63,0.73,,,,,,,,,,,,,,,,
missense_variant,SERPING1,MISSENSE,NM_000062.2:p.Val480Met/c.1438G>A,Gtg/Atg,MODERATE,COSM3764318(1),0.149561,0.0942,rs4926,0.07(T),"0.034,0.034,0.034(B,B,B)",1.425(L),-0.9698(T),,chr11,57381989,57381989,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val480Met/c.1438G>A|500|SERPING1|protein_coding|CODING|NM_000062.2|8|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val480Met/c.1438G>A|500|SERPING1|protein_coding|CODING|NM_001032295.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HSMM:H3K27me3",,,,0.1616,0.1657,0.2664,0.22,0.11,0.28,,0.026252(N),1.000(P),"-1.94,-1.94,-1.94,-1.94,-1.94(D,D,D,D,D)",0.0001(T),0.221,1.570632,4.68,-0.867,-1.104000,-0.365000,-1.524000,0.328000,0.964000,0.003000,20.9307
synonymous_variant,ZDHHC5,SILENT,NM_015457.2:p.Leu332Leu/c.994T>C,Ttg/Ctg,LOW,COSM3752510(2),0.660144,0.8968,rs1783978,,,,,,chr11,57463500,57463500,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu332Leu/c.994T>C|715|ZDHHC5|protein_coding|CODING|NM_015457.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6268,0.6556,0.5596,0.57,0.56,0.57,,,,,,,,,,,,,,,,
synonymous_variant,CTNND1,SILENT,NM_001085458.1:p.His520His/c.1560C>T,caC/caT,LOW,,0.996206,1,rs11229137,,,,,,chr11,57571232,57571232,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His520His/c.1560C>T|968|CTNND1|protein_coding|CODING|NM_001085458.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His520His/c.1560C>T|962|CTNND1|protein_coding|CODING|NM_001085459.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His520His/c.1560C>T|933|CTNND1|protein_coding|CODING|NM_001085460.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His520His/c.1560C>T|933|CTNND1|protein_coding|CODING|NM_001085461.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His520His/c.1560C>T|933|CTNND1|protein_coding|CODING|NM_001085462.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|867|CTNND1|protein_coding|CODING|NM_001085463.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|861|CTNND1|protein_coding|CODING|NM_001085464.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|840|CTNND1|protein_coding|CODING|NM_001085465.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|838|CTNND1|protein_coding|CODING|NM_001085466.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|832|CTNND1|protein_coding|CODING|NM_001085467.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|832|CTNND1|protein_coding|CODING|NM_001085468.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|832|CTNND1|protein_coding|CODING|NM_001085469.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His466His/c.1398C>T|914|CTNND1|protein_coding|CODING|NM_001206883.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His466His/c.1398C>T|885|CTNND1|protein_coding|CODING|NM_001206884.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His520His/c.1560C>T|939|CTNND1|protein_coding|CODING|NM_001206885.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His466His/c.1398C>T|908|CTNND1|protein_coding|CODING|NM_001206886.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His466His/c.1398C>T|887|CTNND1|protein_coding|CODING|NM_001206887.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His466His/c.1398C>T|879|CTNND1|protein_coding|CODING|NM_001206888.1|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His466His/c.1398C>T|879|CTNND1|protein_coding|CODING|NM_001206889.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His419His/c.1257C>T|832|CTNND1|protein_coding|CODING|NM_001206890.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His466His/c.1398C>T|879|CTNND1|protein_coding|CODING|NM_001206891.1|8|1),synonymous_variant(LOW|SILENT|caC/caT|p.His520His/c.1560C>T|941|CTNND1|protein_coding|CODING|NM_001331.2|8|1),non_coding_exon_variant(MODIFIER|||n.2119C>T||TMX2-CTNND1||NON_CODING|NR_037646.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,OR6Q1,MISSENSE,NM_001005186.2:p.Asp100Gly/c.299A>G,gAt/gGt,MODERATE,COSM3998483(1),0.408147,0.6825,rs921135,1(T),0.0(B),-2.225(N),-1.0396(T),,chr11,57798723,57798723,A,G,het,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp100Gly/c.299A>G|317|OR6Q1|protein_coding|CODING|NM_001005186.2|1|1),intron_variant(MODIFIER|||c.-93+7147A>G|310|OR9Q1|protein_coding|CODING|NM_001005212.3|1|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.4611,0.2651,0.2913,0.31,0.34,0.30,,0.001437(N),0.941(P),5.23(T),0.0000(T),0.038,-0.832308,4.76,3.78,-0.136000,1.036000,0.808000,0.888000,0.992000,0.027000,7.9273
missense_variant,OR6Q1,MISSENSE,NM_001005186.2:p.Tyr173Cys/c.518A>G,tAt/tGt,MODERATE,COSM3752512(2),0.408147,0.6825,rs2513726,1(T),0.0(B),-3.245(N),-0.9929(T),,chr11,57798942,57798942,A,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr173Cys/c.518A>G|317|OR6Q1|protein_coding|CODING|NM_001005186.2|1|1),intron_variant(MODIFIER|||c.-93+7366A>G|310|OR9Q1|protein_coding|CODING|NM_001005212.3|1|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.4611,0.2651,0.2913,0.31,0.34,0.30,,0.000822(N),0.000(P),9.05(T),0.0000(T),0.076,-0.527015,5.04,5.04,-0.131000,1.136000,5.148000,0.960000,1.000000,1.000000,9.7534
synonymous_variant,OR6Q1,SILENT,NM_001005186.2:p.Ser253Ser/c.759C>T,agC/agT,LOW,,0.150559,0.1022,rs7123727,,,,,,chr11,57799183,57799183,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser253Ser/c.759C>T|317|OR6Q1|protein_coding|CODING|NM_001005186.2|1|1),intron_variant(MODIFIER|||c.-93+7607C>T|310|OR9Q1|protein_coding|CODING|NM_001005212.3|1|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1339,0.1614,0.2823,0.23,0.11,0.29,,,,,,,,,,,,,,,,
missense_variant,OR6Q1,MISSENSE,NM_001005186.2:p.Gly316Ala/c.947G>C,gGa/gCa,MODERATE,COSM3752513(1),0.418131,0.244,rs1374570,0.05(D),0.036(B),0.695(N),-1.0677(T),,chr11,57799371,57799371,G,C,het,"missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly316Ala/c.947G>C|317|OR6Q1|protein_coding|CODING|NM_001005186.2|1|1),intron_variant(MODIFIER|||c.-93+7795G>C|310|OR9Q1|protein_coding|CODING|NM_001005212.3|1|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.2894,0.5418,0.5417,0.53,0.51,0.55,,0.432114(N),1.000(P),4.45(T),0.0000(T),0.111,1.234500,4.29,2.38,-0.122000,0.443000,0.146000,0.164000,0.001000,0.000000,11.799
synonymous_variant,OR9Q1,SILENT,NM_001005212.3:p.Ala116Ala/c.348C>G,gcC/gcG,LOW,COSM3752515(1),0.335264,0.5754,rs11229273,,,,,,chr11,57947264,57947264,C,G,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala116Ala/c.348C>G|310|OR9Q1|protein_coding|CODING|NM_001005212.3|3|1),HMEC:H3K27me3,,,,0.5511,0.2406,0.2684,0.22,0.11,0.28,,,,,,,,,,,,,,,,
synonymous_variant,OR9Q2,SILENT,NM_001005283.2:p.Asp271Asp/c.813C>T,gaC/gaT,LOW,COSM147237(2),0.423922,0.752,rs7120468,,,,,,chr11,57958775,57958775,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp271Asp/c.813C>T|314|OR9Q2|protein_coding|CODING|NM_001005283.2|1|1),,,,,0.5072,0.3847,0.3082,0.29,0.24,0.32,,,,,,,,,,,,,,,,
synonymous_variant,OR1S2,SILENT,NM_001004459.1:p.Phe153Phe/c.459C>T,ttC/ttT,LOW,COSM147238(1),0.426717,0.752,rs11229279,,,,,,chr11,57971195,57971195,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe153Phe/c.459C>T|325|OR1S2|protein_coding|CODING|NM_001004459.1|1|1),H1ESC:H3K36me3,,,,0.5072,0.3876,0.3161,0.30,0.25,0.33,,,,,,,,,,,,,,,,
synonymous_variant,OR1S2,SILENT,NM_001004459.1:p.Ala151Ala/c.453C>T,gcC/gcT,LOW,COSM147239(1),0.514177,0.7927,rs11229280,,,,,,chr11,57971201,57971201,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala151Ala/c.453C>T|325|OR1S2|protein_coding|CODING|NM_001004459.1|1|1),H1ESC:H3K36me3,,,,0.6472,0.4971,0.4245,0.38,0.30,0.42,,,,,,,,,,,,,,,,
synonymous_variant,OR1S2,SILENT,NM_001004459.1:p.Asn55Asn/c.165C>T,aaC/aaT,LOW,,0.00219649,0,rs149262384,,,,,,chr11,57971489,57971489,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn55Asn/c.165C>T|325|OR1S2|protein_coding|CODING|NM_001004459.1|1|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0,0.0014,0.001,0.00,0.01,0.00,,,,,,,,,,,,,,,,
missense_variant,OR1S1,MISSENSE,NM_001004458.1:p.Ser5Gly/c.13A>G,Agt/Ggt,MODERATE,COSM4145920(1),0.664936,0.8681,rs1966836,0.33(T),0.008(B),0(N),-0.9931(T),,chr11,57982229,57982229,A,G,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser5Gly/c.13A>G|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,0.7802,0.7622,0.662,0.59,0.42,0.68,,0.902836(N),1.000(P),0.69(T),0.0000(T),0.03,-0.109212,3.1,-0.787,-2.467000,-0.695000,-1.762000,0.045000,0.000000,0.000000,0.5763
missense_variant,OR1S1,MISSENSE,NM_001004458.1:p.Ile123Thr/c.368T>C,aTt/aCt,MODERATE,,0.523163,0.8036,rs1966835,0.03(D),0.002(B),-0.825(N),-1.0404(T),,chr11,57982584,57982584,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile123Thr/c.368T>C|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,0.6472,0.5418,0.4225,0.38,0.30,0.42,,0.226633(N),1.000(P),4.69(T),0.0000(T),0.027,-0.939776,3.27,-2.56,-1.267000,-0.406000,-1.070000,0.142000,0.354000,0.000000,1.4226
missense_variant,OR1S1,MISSENSE,NM_001004458.1:p.His135Arg/c.404A>G,cAc/cGc,MODERATE,,0.51877,0.8036,rs1966834,1(T),0.0(B),-3.19(N),-0.9919(T),,chr11,57982620,57982620,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His135Arg/c.404A>G|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,0.6268,0.5418,0.4205,0.38,0.30,0.42,,0.000173(N),0.999(P),3.55(T),0.0000(T),0.037,-0.752849,3.45,3.45,-0.348000,0.671000,6.004000,0.381000,1.000000,1.000000,10.0632
synonymous_variant,OR1S1,SILENT,NM_001004458.1:p.Leu170Leu/c.510G>T,ctG/ctT,LOW,COSM147240(1),0.523163,0.8036,rs1993089,,,,,,chr11,57982726,57982726,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu170Leu/c.510G>T|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,0.6472,0.5418,0.4225,0.35,0.26,0.39,,,,,,,,,,,,,,,,
missense_variant,OR1S1,MISSENSE,NM_001004458.1:p.Asn183Asp/c.547A>G,Aac/Gac,MODERATE,COSM147241(3),,,rs1993088,0.19(T),0.0(B),-0.49(N),-0.9668(T),,chr11,57982763,57982763,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn183Asp/c.547A>G|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,,,,0.26,0.19,0.30,,0.226699(N),1.000(P),8.46(T),0.0000(T),0.001,-1.849961,3.45,-1.1,-1.305000,-0.506000,0.105000,0.033000,0.017000,0.000000,5.0446
missense_variant,OR1S1,MISSENSE,NM_001004458.1:p.Leu206Met/c.616T>A,Ttg/Atg,MODERATE,COSM147242(3),0.52496,0.8046,rs2867400,0.09(T),0.0(B),1.765(L),-1.0184(T),,chr11,57982832,57982832,T,A,het,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu206Met/c.616T>A|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,0.6585,0.5403,0.4225,,,,,0.133431(N),1.000(P),8.71(T),0.0000(T),0.116,-1.126825,3.23,0.689,-0.562000,0.339000,-1.315000,0.171000,0.005000,0.000000,1.1022
missense_variant,OR1S1,MISSENSE,NM_001004458.1:p.Ser227Ile/c.680G>T,aGc/aTc,MODERATE,,0.522364,0.8036,rs2903566,1(T),0.0(B),-3.13(N),-0.9182(T),,chr11,57982896,57982896,G,T,het,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser227Ile/c.680G>T|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,0.6472,0.5418,0.4225,0.38,0.30,0.42,,0.003657(N),1.000(P),9.43(T),0.0000(T),0.065,-2.561584,3.23,2.08,-0.527000,-0.026000,1.851000,0.442000,0.078000,0.027000,4.0934
stop_lost,OR1S1,MISSENSE,NM_001004458.1:p.Ter326Trpext*?/c.978A>G,tgA/tgG,HIGH,,0.433506,0.7619,rs7103033,,,,,,chr11,57983194,57983194,A,G,het,stop_lost(HIGH|MISSENSE|tgA/tgG|p.Ter326Trpext*?/c.978A>G|325|OR1S1|protein_coding|CODING|NM_001004458.1|1|1),,,,,0.5072,0.428,0.3141,0.30,0.24,0.33,,,1.000(P),,,.,1.019495,2.61,2.61,0.392000,1.200000,0.032000,0.012000,0.014000,0.001000,7.0192
synonymous_variant,OR10Q1,SILENT,NM_001004471.2:p.Asn88Asn/c.264C>T,aaC/aaT,LOW,COSM3773605(2),0.254792,0.1438,rs61902844,,,,,,chr11,57996084,57996084,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn88Asn/c.264C>T|319|OR10Q1|protein_coding|CODING|NM_001004471.2|1|1),,,,,0.3139,0.2882,0.4404,0.34,0.17,0.44,,,,,,,,,,,,,,,,
missense_variant,OR10Q1,MISSENSE,NM_001004471.2:p.Glu12Asp/c.36G>C,gaG/gaC,MODERATE,,0.941294,0.9593,rs4245219,0.61(T),0.0(B),0.36(N),-0.8962(T),,chr11,57996312,57996312,C,G,hom,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu12Asp/c.36G>C|319|OR10Q1|protein_coding|CODING|NM_001004471.2|1|1),,,,,0.9939,0.9784,0.9851,0.94,0.86,0.98,,0.067413(N),1.000(P),8.11(T),0.0000(T),0.017,-1.526864,4.71,0.647,-0.127000,-0.270000,-0.202000,0.021000,0.004000,0.000000,4.5283
missense_variant,OR10W1,MISSENSE,NM_207374.3:p.Arg263Gln/c.788G>A,cGg/cAg,MODERATE,,0.513578,0.6954,rs10792156,0.07(T),0.001(B),0.89(L),-0.8990(T),,chr11,58034543,58034543,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg263Gln/c.788G>A|305|OR10W1|protein_coding|CODING|NM_207374.3|1|1),,,,,0.5184,0.4942,0.3787,0.44,0.50,0.41,,0.121349(N),1.000(P),8.75(T),0.0000(T),0.045,0.364124,5.7,-2.59,-1.062000,-0.762000,-0.521000,0.397000,0.013000,0.000000,4.216
missense_variant,OR5B17,MISSENSE,NM_001005489.1:p.Tyr308Cys/c.923A>G,tAt/tGt,MODERATE,COSM1179749(1),0.730831,0.8562,rs4127353,0.22(T),0.001(B),-0.205(N),-0.9746(T),,chr11,58125620,58125620,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr308Cys/c.923A>G|314|OR5B17|protein_coding|CODING|NM_001005489.1|1|1),HUVEC:H3K27me3,,,,0.7025,0.7334,0.6312,0.67,0.74,0.63,,,1.000(P),7.83(T),0.0000(T),0.032,0.212877,2.58,-5.15,-0.741000,-2.914000,-2.791000,0.278000,0.000000,0.000000,0.2523
missense_variant,OR5B17,MISSENSE,NM_001005489.1:p.Leu80Ile/c.238T>A,Tta/Ata,MODERATE,,0.716653,0.8552,rs4939208,0.12(T),0.008(B),2.11(M),-0.9898(T),,chr11,58126305,58126305,A,T,het,missense_variant(MODERATE|MISSENSE|Tta/Ata|p.Leu80Ile/c.238T>A|314|OR5B17|protein_coding|CODING|NM_001005489.1|1|1),HUVEC:H3K27me3,,,,0.7025,0.7305,0.6312,0.66,0.70,0.63,,0.967588(N),1.000(P),7.81(T),0.0000(T),0.061,-0.003650,3.6,-7.19,-1.094000,-1.830000,-3.480000,0.001000,0.000000,0.000000,2.7067
missense_variant,OR5B2,MISSENSE,NM_001005566.2:p.Leu46Gln/c.137T>A,cTg/cAg,MODERATE,,0.000399361,0,rs143455032,0(D),0.966(D),4.185(H),-0.9856(T),,chr11,58190598,58190598,A,T,het,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu46Gln/c.137T>A|309|OR5B2|protein_coding|CODING|NM_001005566.2|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0,0.0014,0.001,0.00,0.00,0.00,,,1.000(N),4.07(T),0.0714(T),0.51,2.431481,3.8,3.8,0.524000,1.728000,5.910000,0.001000,0.033000,0.678000,10.8111
missense_variant,OR5B12,MISSENSE,NM_001004733.2:p.Cys141Arg/c.421T>C,Tgc/Cgc,MODERATE,,1,1,rs4938895,0.38(T),0.002(B),-0.7(N),-0.9026(T),,chr11,58207204,58207204,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys141Arg/c.421T>C|314|OR5B12|protein_coding|CODING|NM_001004733.2|1|1),NHEK:H3K27me3,,,,1,1,1,,,,,0.513292(N),1.000(P),8.79(T),0.0000(T),0.063,-1.392599,4.44,-8.89,-1.838000,-3.663000,-2.434000,0.069000,0.000000,0.000000,8.1701
synonymous_variant,LPXN,SILENT,NM_001143995.1:p.Leu140Leu/c.420G>C,ctG/ctC,LOW,,0.508187,0.6905,rs1047979,,,,,,chr11,58318619,58318619,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu140Leu/c.420G>C|391|LPXN|protein_coding|CODING|NM_001143995.1|5|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu135Leu/c.405G>C|386|LPXN|protein_coding|CODING|NM_004811.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.545,0.5576,0.5616,0.50,0.35,0.58,,,,,,,,,,,,,,,,
missense_variant,ZFP91,MISSENSE,NM_053023.4:p.Ala67Thr/c.199G>A,Gct/Act,MODERATE,,0.00638978,0,rs143372783,0.01(D),"0.908,0.811(P,P)",0.345(N),-0.9200(T),,chr11,58346953,58346953,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala67Thr/c.199G>A|569|ZFP91|protein_coding|CODING|NM_001197051.1|1|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala67Thr/c.199G>A|570|ZFP91|protein_coding|CODING|NM_053023.4|1|1),upstream_gene_variant(MODIFIER||1314||391|LPXN|protein_coding|CODING|NM_001143995.1||1),non_coding_exon_variant(MODIFIER|||n.367G>A||ZFP91-CNTF||NON_CODING|NR_024091.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.0225,0.0014,0.008,0.01,0.00,0.01,,0.000078(N),1.000(N),2.39(T),0.0492(T),0.221,2.752856,3.67,3.67,0.289000,1.767000,4.012000,0.447000,0.974000,1.000000,11.2452
missense_variant,GLYAT,MISSENSE,NM_201648.2:p.Asn156Ser/c.467A>G,aAt/aGt,MODERATE,,0.926518,0.8046,rs675815,1(T),"0.0,0.001(B,B)",-0.315(N),-0.9910(T),,chr11,58478084,58478084,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn156Ser/c.467A>G|163|GLYAT|protein_coding|CODING|NM_005838.3|5|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn156Ser/c.467A>G|296|GLYAT|protein_coding|CODING|NM_201648.2|5|1)",,,,,0.8824,0.9568,0.9761,0.99,0.99,0.98,,0.201053(N),1.000(P),"2.34,2.34,2.6(T,T,T)",0.0000(T),0.009,-0.897961,5.29,-8.33,-1.595000,-2.311000,-3.403000,0.000000,0.000000,0.000000,4.5822
missense_variant,GLYATL2,MISSENSE,NM_145016.3:p.Glu160Lys/c.478G>A,Gaa/Aaa,MODERATE,COSM147251(2),0.333466,0.4841,rs11229651,1(T),0.0(B),-0.755(N),-0.9299(T),,chr11,58602309,58602309,C,T,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu160Lys/c.478G>A|294|GLYATL2|protein_coding|CODING|NM_145016.3|6|1),splice_region_variant(LOW|||c.478G>A|294|GLYATL2|protein_coding|CODING|NM_145016.3|6|1)",,,,,0.3855,0.3242,0.2018,0.21,0.26,0.19,,0.532409(N),0.000(P),"2.54,2.54(T,T)",0.0000(T),0.02,-1.225198,2.79,-1.35,-0.405000,0.057000,0.205000,0.012000,0.007000,0.007000,5.6535
missense_variant,OR5AN1,MISSENSE,NM_001004729.1:p.Leu289Phe/c.867G>C,ttG/ttC,MODERATE,,0.673323,0.744,rs7941190,0.03(D),0.999(D),2.055(M),-0.9330(T),,chr11,59132798,59132798,G,C,hom,missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu289Phe/c.867G>C|311|OR5AN1|protein_coding|CODING|NM_001004729.1|1|1),,,,,0.7311,0.7363,0.7227,0.64,0.53,0.70,,0.001735(N),0.993(P),1.11(T),0.0000(T),0.11,2.568337,4.51,1.4,-0.140000,0.184000,0.022000,0.984000,0.751000,0.923000,4.6162
missense_variant,OR5A1,MISSENSE,NM_001004728.1:p.Asp183Asn/c.547G>A,Gac/Aac,MODERATE,,0.635383,0.7609,rs6591536,0.02(D),1.0(D),2.755(M),-1.0975(T),,chr11,59211188,59211188,G,A,hom,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp183Asn/c.547G>A|315|OR5A1|protein_coding|CODING|NM_001004728.1|1|1),,,,,0.7423,0.5836,0.6938,0.61,0.48,0.67,,0.000907(N),0.001(P),8.59(T),0.0000(T),0.132,3.920313,5.98,5.98,0.650000,2.835000,7.834000,0.457000,1.000000,1.000000,14.7356
synonymous_variant,OR5A1,SILENT,NM_001004728.1:p.Thr208Thr/c.624T>C,acT/acC,LOW,,0.635383,0.7609,rs7941591,,,,,,chr11,59211265,59211265,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr208Thr/c.624T>C|315|OR5A1|protein_coding|CODING|NM_001004728.1|1|1),,,,,0.7423,0.5836,0.6938,0.61,0.48,0.67,,,,,,,,,,,,,,,,
missense_variant,OR4D6,MISSENSE,NM_001004708.1:p.Asp96Gly/c.287A>G,gAc/gGc,MODERATE,,0.895767,0.9435,rs1453543,1(T),0.0(B),-1.98(N),-0.9679(T),,chr11,59224720,59224720,A,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp96Gly/c.287A>G|314|OR4D6|protein_coding|CODING|NM_001004708.1|1|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.9755,0.853,0.9901,0.92,0.79,0.99,,0.000046(N),1.000(P),5.23(T),0.0000(T),0.062,-0.434175,6.0,6.0,-0.128000,1.560000,0.635000,0.954000,0.999000,0.020000,14.3056
missense_variant,OR10V1,MISSENSE,NM_001005324.1:p.Gln123Arg/c.368A>G,cAg/cGg,MODERATE,,0.973842,1,rs499033,1(T),0.0(B),-2.995(N),-1.0121(T),,chr11,59480951,59480951,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln123Arg/c.368A>G|309|OR10V1|protein_coding|CODING|NM_001005324.1|1|1),"HUVEC:H3K27me3,NHEK:H3K36me3",,,,0.9847,0.9582,0.9165,0.94,0.98,0.91,,0.005569(N),0.000(P),3.52(T),0.0000(T),0.055,-0.488522,4.36,3.43,-0.245000,0.588000,3.049000,0.659000,0.998000,0.991000,7.3543
missense_variant,OR10V1,MISSENSE,NM_001005324.1:p.Val117Ala/c.350T>C,gTa/gCa,MODERATE,,0.186901,0.0685,rs472177,1(T),0.0(B),-1.795(N),-0.9966(T),,chr11,59480969,59480969,A,G,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val117Ala/c.350T>C|309|OR10V1|protein_coding|CODING|NM_001005324.1|1|1),"HUVEC:H3K27me3,NHEK:H3K36me3",,,,0.046,0.1787,0.0636,0.18,0.40,0.06,,0.000073(N),0.038(P),5.04(T),0.0000(T),0.044,-1.171484,4.36,4.36,-0.245000,1.227000,2.361000,0.525000,0.860000,0.261000,10.7611
missense_variant,OR10V1,MISSENSE,NM_001005324.1:p.Ala67Glu/c.200C>A,gCa/gAa,MODERATE,,0.0285543,0.0317,rs74398490,0(D),0.999(D),3.06(M),-1.1833(T),,chr11,59481119,59481119,G,T,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala67Glu/c.200C>A|309|OR10V1|protein_coding|CODING|NM_001005324.1|1|1),"HUVEC:H3K27me3,NHEK:H3K36me3",,,,0.0174,0.0144,0.0457,0.04,0.03,0.04,,0.000073(D),1.000(D),4.03(T),0.0104(T),0.316,2.981346,4.36,4.36,0.543000,2.453000,4.903000,0.584000,0.999000,0.892000,14.9702
missense_variant,GIF,MISSENSE,NM_005142.2:p.Gln23Arg/c.68A>G,cAg/cGg,MODERATE,,0.102636,0.0417,rs35211634,0.64(T),"0.001,0.001(B,B)",-0.92(N),-0.9322(T),,chr11,59612859,59612859,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln23Arg/c.68A>G|417|GIF|protein_coding|CODING|NM_005142.2|1|1),GM12878:H3K27me3,,RCV000001812.1,,0.0337,0.0331,0.0567,0.10,0.20,0.05,,0.841440(N),1.000(P),1.35(T),0.0000(T),0.083,-0.348630,5.46,-4.43,-0.215000,-1.452000,-2.402000,0.047000,0.000000,0.000000,14.5605
synonymous_variant,MS4A3,SILENT,NM_006138.4:p.Thr188Thr/c.564C>T,acC/acT,LOW,COSM3998501(1),0.300719,0.2272,rs386598209,,,,,,chr11,59837097,59837097,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr65Thr/c.195C>T|91|MS4A3|protein_coding|CODING|NM_001031666.1|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr142Thr/c.426C>T|168|MS4A3|protein_coding|CODING|NM_001031809.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr188Thr/c.564C>T|214|MS4A3|protein_coding|CODING|NM_006138.4|6|1)",HMEC:DNase1,,,,0.5082,0.1844,0.2724,0.27,0.25,0.28,,,,,,,,,,,,,,,,
synonymous_variant,MS4A6A,SILENT,NM_001247999.1:p.Leu137Leu/c.411A>G,ttA/ttG,LOW,COSM4145935(1),0.307308,0.2252,rs12453,,,,,,chr11,59945745,59945745,T,C,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu137Leu/c.411A>G|253|MS4A6A|protein_coding|CODING|NM_001247999.1|5|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu109Leu/c.327A>G|225|MS4A6A|protein_coding|CODING|NM_022349.3|4|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu109Leu/c.327A>G|178|MS4A6A|protein_coding|CODING|NM_152851.2|4|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu109Leu/c.327A>G|248|MS4A6A|protein_coding|CODING|NM_152852.2|5|1)",HepG2:H3K27me3,,,,0.5184,0.2723,0.4046,0.33,0.20,0.40,,,,,,,,,,,,,,,,
synonymous_variant,MS4A4A,SILENT,NM_148975.2:p.Leu191Leu/c.571C>T,Cta/Tta,LOW,,0.926318,0.8403,rs4644658,,,,,,chr11,60073597,60073597,C,T,hom,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu138Leu/c.412C>T|186|MS4A4A|protein_coding|CODING|NM_001243266.1|5|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu172Leu/c.514C>T|220|MS4A4A|protein_coding|CODING|NM_024021.3|7|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu191Leu/c.571C>T|239|MS4A4A|protein_coding|CODING|NM_148975.2|6|1),upstream_gene_variant(MODIFIER||425|||MIR6503||NON_CODING|NR_106758.1||1)","HUVEC:DNase1,HSMM:DNase1,HMEC:DNase1",,,,0.9499,0.9899,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,MS4A6E,MISSENSE,NM_139249.2:p.Ile6Val/c.16A>G,Att/Gtt,MODERATE,COSM3752528(1),0.258187,0.254,rs2304935,1(T),0.0(B),-0.955(N),-0.9315(T),,chr11,60102384,60102384,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile6Val/c.16A>G|147|MS4A6E|protein_coding|CODING|NM_139249.2|1|1),HUVEC:H3K27me3,,,,0.1319,0.4236,0.3121,0.31,0.26,0.34,,0.261176(N),1.000(P),3.15(T),0.0000(T),0.008,-2.247485,2.4,-3.92,-1.840000,-1.240000,-0.662000,0.014000,0.000000,0.000000,8.785
missense_variant,MS4A6E,MISSENSE,NM_139249.2:p.Thr10Ala/c.28A>G,Acc/Gcc,MODERATE,COSM3752529(1),0.258187,0.255,rs2304934,0.49(T),0.009(B),1.975(M),-0.9107(T),,chr11,60102396,60102396,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr10Ala/c.28A>G|147|MS4A6E|protein_coding|CODING|NM_139249.2|1|1),HUVEC:H3K27me3,,,,0.1319,0.4236,0.3111,0.31,0.26,0.34,,0.808117(N),1.000(P),2.86(T),0.0000(T),0.018,1.927607,2.4,-2.81,0.254000,-0.804000,-0.268000,0.027000,0.002000,0.000000,2.2381
missense_variant,MS4A6E,MISSENSE,NM_139249.2:p.Val47Phe/c.139G>T,Gtt/Ttt,MODERATE,COSM3752530(1),0.257788,0.255,rs2304933,0.07(T),0.849(P),1.39(L),-0.9197(T),,chr11,60102507,60102507,G,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val47Phe/c.139G>T|147|MS4A6E|protein_coding|CODING|NM_139249.2|1|1),HUVEC:H3K27me3,,,,0.1319,0.4222,0.3111,0.31,0.26,0.34,,0.415235(N),1.000(P),2.46(T),0.0000(T),0.354,1.218706,2.23,2.23,0.305000,1.226000,0.209000,0.295000,0.234000,0.021000,7.8596
missense_variant,MS4A14,MISSENSE,NM_001261828.1:p.Asn210Tyr/c.628A>T,Aat/Tat,MODERATE,COSM3752533(2),0.577875,0.4097,rs7131283,0.03(D),"0.947,0.957(D,D)",1.995(M),-0.9522(T),,chr11,60182970,60182970,A,T,het,"missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn160Tyr/c.478A>T|662|MS4A14|protein_coding|CODING|NM_001079692.2|4|1),missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn193Tyr/c.577A>T|695|MS4A14|protein_coding|CODING|NM_001261827.1|5|1),missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn210Tyr/c.628A>T|712|MS4A14|protein_coding|CODING|NM_001261828.1|6|1),missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn177Tyr/c.529A>T|679|MS4A14|protein_coding|CODING|NM_032597.4|5|1),non_coding_exon_variant(MODIFIER|||n.1263A>T||MS4A14||CODING|NR_049731.1|6|1),non_coding_exon_variant(MODIFIER|||n.1215A>T||MS4A14||CODING|NR_049732.1|6|1),non_coding_exon_variant(MODIFIER|||n.1164A>T||MS4A14||CODING|NR_049733.1|5|1),non_coding_exon_variant(MODIFIER|||n.1314A>T||MS4A14||CODING|NR_049734.1|7|1)",HepG2:H3K27me3,,,,0.5828,0.6902,0.7018,0.64,0.53,0.69,,,1.000(P),"4.33,4.33,4.33,2.64(T,T,T,T)",0.0000(T),0.259,2.125193,3.73,0.0768,-0.263000,-0.006000,0.397000,0.009000,0.022000,0.700000,3.2744
synonymous_variant,MS4A1,SILENT,NM_021950.3:p.Ile72Ile/c.216C>T,atC/atT,LOW,,0.0810703,0.13,rs2070770,,,,,,chr11,60230531,60230531,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile72Ile/c.216C>T|297|MS4A1|protein_coding|CODING|NM_021950.3|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile72Ile/c.216C>T|297|MS4A1|protein_coding|CODING|NM_152866.2|4|1)","GM12878:H3K4me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.1759,0.0245,0.0726,0.06,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,MS4A12,SILENT,NM_017716.2:p.Tyr52Tyr/c.156C>T,taC/taT,LOW,COSM3752537(1),0.615415,0.6607,rs2298552,,,,,,chr11,60264947,60264947,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr52Tyr/c.156C>T|221|MS4A12|protein_coding|CODING|NM_001164470.1|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr52Tyr/c.156C>T|267|MS4A12|protein_coding|CODING|NM_017716.2|2|1)",,,,,0.5818,0.6599,0.5099,0.55,0.60,0.53,,,,,,,,,,,,,,,,
missense_variant,MS4A13,MISSENSE,NM_001012417.2:p.Ile7Val/c.19A>G,Att/Gtt,MODERATE,,0.947284,0.999,rs10736706,1(T),"0.0,0.0,0.0(B,B,B)",-1.115(N),-0.9663(T),,chr11,60285575,60285575,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile7Val/c.19A>G|152|MS4A13|protein_coding|CODING|NM_001012417.2|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile7Val/c.19A>G|112|MS4A13|protein_coding|CODING|NM_001100909.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile7Val/c.19A>G|93|MS4A13|protein_coding|CODING|NM_001278320.1|3|1)",,,,,1,0.9885,1,0.95,0.85,1.00,,0.533590(N),1.000(P),"4.42,2.23,1.83,1.81(T,T,T,T)",0.0000(T),0.013,-2.583428,5.65,-2.11,-1.918000,-0.233000,0.024000,0.004000,0.000000,0.000000,0.9084
missense_variant,MS4A13,MISSENSE,NM_001012417.2:p.Pro58Leu/c.173C>T,cCg/cTg,MODERATE,,0.728834,0.7242,rs6591595,0.02(D),"0.343,0.579(B,P)",1.79(L),-0.9755(T),,chr11,60291413,60291413,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro58Leu/c.173C>T|152|MS4A13|protein_coding|CODING|NM_001012417.2|4|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro58Leu/c.173C>T|112|MS4A13|protein_coding|CODING|NM_001100909.1|4|1),intron_variant(MODIFIER|||c.130-5425C>T|93|MS4A13|protein_coding|CODING|NM_001278320.1|3|1)",,,,,0.7761,0.6859,0.8787,0.79,0.64,0.87,,0.712834(N),1.000(P),"4.19,1.9(T,T)",0.0000(T),0.116,2.027638,4.29,1.32,-0.188000,0.316000,-0.211000,0.001000,0.000000,0.000000,6.8654
missense_variant,MS4A15,MISSENSE,NM_001098835.1:p.Ser20Gly/c.58A>G,Agt/Ggt,MODERATE,COSM4145941(1),0.263778,0.2123,rs12363342,0.08(T),"0.842,0.952(P,D)",0.895(L),-0.9218(T),,chr11,60531264,60531264,A,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser20Gly/c.58A>G|240|MS4A15|protein_coding|CODING|NM_001098835.1|2|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser20Gly/c.58A>G|199|MS4A15|protein_coding|CODING|NM_001278242.1|2|1),intron_variant(MODIFIER|||c.-20-3776A>G|147|MS4A15|protein_coding|CODING|NM_152717.2|1|1),non_coding_exon_variant(MODIFIER|||n.278A>G||MS4A15||CODING|NR_103481.1|2|1)","HUVEC:H3K27me3,GM12878:H3K27ac,GM12878:H3K36me3,GM12878:CTCF,GM12878:EBF,K562:H3K27me3,IMR90:H3K27me3,GM12878:H3K4me1,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,,,0.2362,0.2853,0.3588,0.35,0.27,0.39,,,0.000(P),"2.29,2.87(T,T)",0.0000(T),0.114,2.242511,5.21,4.07,0.379000,0.797000,0.111000,0.097000,0.968000,0.267000,7.8754
synonymous_variant,CCDC86,SILENT,NM_024098.3:p.Pro156Pro/c.468G>A,ccG/ccA,LOW,COSM429370(3),0.340855,0.6806,rs2074420,,,,,,chr11,60610065,60610065,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro156Pro/c.468G>A|360|CCDC86|protein_coding|CODING|NM_024098.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4284,0.2752,0.1899,,,,,,,,,,,,,,,,,,,
missense_variant,PTGDR2,MISSENSE,NM_004778.2:p.Val204Ala/c.611T>C,gTg/gCg,MODERATE,COSM3752539(7),0.984625,1,rs2467642,0.79(T),0.0(B),-0.365(N),-1.0203(T),,chr11,60620585,60620585,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val204Ala/c.611T>C|395|PTGDR2|protein_coding|CODING|NM_004778.2|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.96,1.00,,0.371385(N),1.000(P),1.22(T),0.0000(T),0.009,-0.837181,4.74,-5.5,-0.282000,-1.018000,.,0.796000,0.001000,.,3.7132
synonymous_variant,PTGDR2,SILENT,NM_004778.2:p.Arg202Arg/c.606G>C,cgG/cgC,LOW,COSM3752540(9),0.984625,1,rs2428461,,,,,,chr11,60620590,60620590,C,G,hom,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg202Arg/c.606G>C|395|PTGDR2|protein_coding|CODING|NM_004778.2|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ZP1,SILENT,NM_207341.3:p.Val19Val/c.57T>C,gtT/gtC,LOW,COSM4145944(1),0.963259,1,rs550479,,,,,,chr11,60635091,60635091,T,C,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val19Val/c.57T>C|638|ZP1|protein_coding|CODING|NM_207341.3|1|1),HepG2:H3K27me3,,,,1,0.9899,0.999,0.97,0.91,1.00,,,,,,,,,,,,,,,,
missense_variant,ZP1,MISSENSE,NM_207341.3:p.Thr158Ile/c.473C>T,aCc/aTc,MODERATE,,0.693291,0.4038,rs386430946,0.53(T),0.006(B),0.69(N),-0.9949(T),,chr11,60637164,60637164,C,T,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr158Ile/c.473C>T|638|ZP1|protein_coding|CODING|NM_207341.3|3|1),HepG2:H3K27me3,,,,0.5818,0.8213,0.8161,0.83,0.84,0.82,,0.205604(N),1.000(P),1.9(T),0.0000(T),0.046,0.958155,4.44,1.19,0.460000,0.406000,-0.258000,0.001000,0.000000,0.000000,4.4002
synonymous_variant,ZP1,SILENT,NM_207341.3:p.Phe286Phe/c.858C>T,ttC/ttT,LOW,,0.309704,0.626,rs10897122,,,,,,chr11,60638461,60638461,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe286Phe/c.858C>T|638|ZP1|protein_coding|CODING|NM_207341.3|5|1),HepG2:H3K27me3,,,,0.4479,0.3098,0.2207,0.17,0.07,0.23,,,,,,,,,,,,,,,,
synonymous_variant,ZP1,SILENT,NM_207341.3:p.Val289Val/c.867A>G,gtA/gtG,LOW,,1,1,rs566411,,,,,,chr11,60638470,60638470,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val289Val/c.867A>G|638|ZP1|protein_coding|CODING|NM_207341.3|5|1),HepG2:H3K27me3,,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRPF19,SILENT,NM_014502.4:p.Ser349Ser/c.1047C>T,tcC/tcT,LOW,,0.308506,0.3194,rs3763840,,,,,,chr11,60666341,60666341,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser349Ser/c.1047C>T|504|PRPF19|protein_coding|CODING|NM_014502.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3814,0.3905,0.3887,0.33,0.18,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TMEM109,SILENT,NM_024092.2:p.Pro180Pro/c.540T>C,ccT/ccC,LOW,COSM3723883(2),0.740815,0.9534,rs555835,,,,,,chr11,60689445,60689445,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro180Pro/c.540T>C|243|TMEM109|protein_coding|CODING|NM_024092.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8824,0.7363,0.6103,0.61,0.56,0.63,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132A,SILENT,NM_017870.3:p.Ala130Ala/c.390G>C,gcG/gcC,LOW,,,,rs145457758,,,,,,chr11,60695187,60695187,G,C,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala130Ala/c.390G>C|1024|TMEM132A|protein_coding|CODING|NM_017870.3|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala130Ala/c.390G>C|1023|TMEM132A|protein_coding|CODING|NM_178031.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132A,SILENT,NM_017870.3:p.Ala168Ala/c.504C>A,gcC/gcA,LOW,COSM1475612(1),0.739217,0.9514,rs575123,,,,,,chr11,60695301,60695301,C,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala168Ala/c.504C>A|1024|TMEM132A|protein_coding|CODING|NM_017870.3|3|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala168Ala/c.504C>A|1023|TMEM132A|protein_coding|CODING|NM_178031.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8885,0.7608,0.6451,0.62,0.55,0.66,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132A,SILENT,NM_017870.3:p.Leu313Leu/c.939G>A,ctG/ctA,LOW,,0.296126,0.3204,rs2074416,,,,,,chr11,60698054,60698054,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu313Leu/c.939G>A|1024|TMEM132A|protein_coding|CODING|NM_017870.3|5|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu313Leu/c.939G>A|1023|TMEM132A|protein_coding|CODING|NM_178031.2|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3814,0.3862,0.3897,0.32,0.15,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132A,SILENT,NM_017870.3:p.Pro494Pro/c.1482C>G,ccC/ccG,LOW,COSM3752542(2),0.421126,0.3165,rs9513,0(D),,,-0.9661(T),,chr11,60701136,60701136,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro494Pro/c.1482C>G|1024|TMEM132A|protein_coding|CODING|NM_017870.3|8|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro493Pro/c.1479C>G|1023|TMEM132A|protein_coding|CODING|NM_178031.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4427,0.4452,0.4225,0.43,0.46,0.42,,0.000006(D),0.000(P),1.6(T),0.0000(T),.,-0.628838,4.74,-3.54,-2.035000,-1.522000,-2.894000,0.129000,0.438000,0.000000,7.8294
synonymous_variant,TMEM132A,SILENT,NM_017870.3:p.Ser530Ser/c.1590G>A,tcG/tcA,LOW,COSM3749165(2),0.421526,0.3165,rs7715,,,,-0.9733(T),,chr11,60701987,60701987,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser530Ser/c.1590G>A|1024|TMEM132A|protein_coding|CODING|NM_017870.3|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser529Ser/c.1587G>A|1023|TMEM132A|protein_coding|CODING|NM_178031.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4438,0.4467,0.4225,0.38,0.38,0.37,,,0.000(P),,0.0000(T),.,0.173621,3.58,-7.16,-1.376000,-2.810000,.,0.000000,0.000000,.,2.6854
missense_variant,TMEM132A,MISSENSE,NM_017870.3:p.Glu825Lys/c.2473G>A,Gaa/Aaa,MODERATE,,0.311102,0.6349,rs55920775,0(D),"0.003,0.003(B,B)",1.1(L),-1.0032(T),,chr11,60703777,60703777,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu825Lys/c.2473G>A|1024|TMEM132A|protein_coding|CODING|NM_017870.3|11|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu824Lys/c.2470G>A|1023|TMEM132A|protein_coding|CODING|NM_178031.2|11|1),downstream_gene_variant(MODIFIER||778||581|SLC15A3|protein_coding|CODING|NM_016582.2||1),downstream_gene_variant(MODIFIER||778|||SLC15A3||CODING|NR_027391.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4519,0.3084,0.2137,0.17,0.07,0.22,,0.092620(N),1.000(P),"2.57,2.57(T,T)",0.0000(T),0.088,-1.242138,4.98,2.07,-1.134000,0.003000,0.954000,0.006000,0.000000,0.006000,10.687
missense_variant,TMEM132A,MISSENSE,NM_017870.3:p.Ala970Val/c.2909C>T,gCg/gTg,MODERATE,,0.421925,0.3165,rs2469887,0(D),"0.008,0.008(B,B)",1.845(L),-0.9238(T),,chr11,60704213,60704213,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala970Val/c.2909C>T|1024|TMEM132A|protein_coding|CODING|NM_017870.3|11|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala969Val/c.2906C>T|1023|TMEM132A|protein_coding|CODING|NM_178031.2|11|1),downstream_gene_variant(MODIFIER||342||581|SLC15A3|protein_coding|CODING|NM_016582.2||1),downstream_gene_variant(MODIFIER||342|||SLC15A3||CODING|NR_027391.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4427,0.4467,0.4225,0.44,0.47,0.43,,0.026050(N),0.890(P),"3.28,3.28(T,T)",0.0000(T),0.099,2.127516,4.61,3.7,0.655000,1.312000,4.120000,0.691000,0.222000,0.939000,5.1482
synonymous_variant,SLC15A3,SILENT,NM_016582.2:p.Gly493Gly/c.1479T>C,ggT/ggC,LOW,COSM4145954(1),0.994209,1,rs2905692,,0.002(B),,-1.0484(T),,chr11,60705454,60705454,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly493Gly/c.1479T>C|581|SLC15A3|protein_coding|CODING|NM_016582.2|7|1),downstream_gene_variant(MODIFIER||823||1024|TMEM132A|protein_coding|CODING|NM_017870.3||1),downstream_gene_variant(MODIFIER||823||1023|TMEM132A|protein_coding|CODING|NM_178031.2||1),non_coding_exon_variant(MODIFIER|||n.1544T>C||SLC15A3||CODING|NR_027391.1|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.97,1.00,,,0.000(P),,0.0000(T),.,1.169248,4.77,-8.17,-1.653000,-1.894000,-2.531000,0.716000,0.403000,0.000000,3.9993
missense_variant,CD6,MISSENSE,NM_006725.4:p.Arg225Trp/c.673C>T,Cgg/Tgg,MODERATE,COSM3752548(3),0.35024,0.1706,rs11230563,0.04(D),"0.087,0.109,0.055,0.133,0.147(B,B,B,B,B)",0.41(N),-0.9509(T),,chr11,60776209,60776209,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg225Trp/c.673C>T|601|CD6|protein_coding|CODING|NM_001254750.1|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg225Trp/c.673C>T|592|CD6|protein_coding|CODING|NM_001254751.1|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg225Trp/c.673C>T|668|CD6|protein_coding|CODING|NM_006725.4|4|1),non_coding_exon_variant(MODIFIER|||n.898C>T||CD6||CODING|NR_045638.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3,HepG2:H3K27me3",Inflammatory_bowel_disease,,,0.2117,0.2968,0.3579,0.40,0.54,0.33,,0.087870(N),0.927(P),"1.34,1.34,1.34,1.34,1.34,1.34,1.34(T,T,T,T,T,T,T)",0.0000(T),0.469,1.572893,4.21,1.17,0.655000,0.412000,1.031000,0.098000,0.353000,0.439000,4.6963
missense_variant,CD6,MISSENSE,NM_006725.4:p.Ala257Val/c.770C>T,gCg/gTg,MODERATE,,0.536342,0.4067,rs2074225,1(T),"0.002,0.001,0.001,0.0,0.001(B,B,B,B,B)",-2.495(N),-0.9498(T),,chr11,60776306,60776306,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala257Val/c.770C>T|601|CD6|protein_coding|CODING|NM_001254750.1|4|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala257Val/c.770C>T|592|CD6|protein_coding|CODING|NM_001254751.1|4|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala257Val/c.770C>T|668|CD6|protein_coding|CODING|NM_006725.4|4|1),non_coding_exon_variant(MODIFIER|||n.995C>T||CD6||CODING|NR_045638.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4642,0.4438,0.6243,0.55,0.55,0.55,,0.011057(N),1.000(P),"2.22,2.22,2.22,2.22,2.22,2.22,2.22(T,T,T,T,T,T,T)",0.0000(T),0.37,-0.892056,4.42,3.3,-0.254000,0.258000,4.111000,0.028000,0.008000,1.000000,8.4555
missense_variant,CD5,MISSENSE,NM_014207.3:p.His461Arg/c.1382A>G,cAc/cGc,MODERATE,,0.967851,0.997,rs637186,1(T),0.0(B),-0.345(N),-0.9780(T),,chr11,60892606,60892606,A,G,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His461Arg/c.1382A>G|495|CD5|protein_coding|CODING|NM_014207.3|9|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:USF1,NH-A:H3K27me3,K562:USF1,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,CD4:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9611,0.9524,0.9205,0.94,0.98,0.91,,0.229970(N),1.000(P),1.64(T),0.0000(T),0.009,-2.091582,4.75,-2.65,-1.212000,-0.647000,-0.231000,0.347000,0.010000,0.000000,11.2334
missense_variant,CD5,MISSENSE,NM_014207.3:p.Ala471Val/c.1412C>T,gCt/gTt,MODERATE,COSM1355182(1),0.691094,0.9881,rs2229177,0.01(D),0.952(D),1.04(L),-1.0499(T),,chr11,60893235,60893235,C,T,hom,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala471Val/c.1412C>T|495|CD5|protein_coding|CODING|NM_014207.3|10|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7955,0.6628,0.5517,0.51,0.53,0.50,,0.000080(D),0.010(P),1.49(T),0.0000(T),0.227,4.129368,5.01,5.01,0.462000,2.313000,4.534000,0.642000,1.000000,1.000000,16.4824
missense_variant,VPS37C,MISSENSE,NM_017966.4:p.Leu198Ser/c.593T>C,tTa/tCa,MODERATE,COSM4145959(1),0.853235,0.9891,rs754382,1(T),0.0(B),-0.975(N),-0.9656(T),,chr11,60899767,60899767,A,G,hom,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu198Ser/c.593T>C|355|VPS37C|protein_coding|CODING|NM_017966.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8487,0.7767,0.6889,0.73,0.87,0.66,,0.333871(N),1.000(P),0.95(T),0.0000(T),0.021,-1.227387,4.71,2.84,-0.355000,0.102000,4.483000,0.355000,0.000000,0.866000,8.1911
synonymous_variant,DDB1,SILENT,NM_001923.4:p.Pro51Pro/c.153C>T,ccC/ccT,LOW,,0.0473243,0,rs2230356,,,,,,chr11,61099072,61099072,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro51Pro/c.153C>T|1140|DDB1|protein_coding|CODING|NM_001923.4|2|1),upstream_gene_variant(MODIFIER||1582||575|DAK|protein_coding|CODING|NM_015533.3||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:H3K79me2,GM12878:H3K4me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K4me2,GM12878:H3K79me2,HMEC:H3K4me2,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.0112,0.0807,0.1143,0.08,0.04,0.11,,,,,,,,,,,,,,,,
synonymous_variant,DAK,SILENT,NM_015533.3:p.Thr157Thr/c.471G>C,acG/acC,LOW,COSM4145965(1),0.767572,0.9702,rs2513329,,,,,,chr11,61106892,61106892,G,C,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr157Thr/c.471G>C|575|DAK|protein_coding|CODING|NM_015533.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8344,0.9308,0.9841,0.80,0.44,0.99,,,,,,,,,,,,,,,,
missense_variant,DAK,MISSENSE,NM_015533.3:p.Ala185Thr/c.553G>A,Gcc/Acc,MODERATE,COSM4145966(1),0.790735,0.9712,rs2260655,0.7(T),0.086(B),1.005(L),-0.9251(T),,chr11,61108974,61108974,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala185Thr/c.553G>A|575|DAK|protein_coding|CODING|NM_015533.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8344,0.9366,0.9861,0.83,0.51,0.99,,0.033963(N),1.000(P),"1.54,1.54(T,T)",0.0000(T),0.059,0.877032,5.84,2.88,0.561000,0.348000,0.767000,0.407000,0.362000,0.090000,5.842
synonymous_variant,DAK,SILENT,NM_015533.3:p.Val437Val/c.1311C>T,gtC/gtT,LOW,,0.790735,0.9712,rs2305465,,,,,,chr11,61112802,61112802,C,T,hom,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val437Val/c.1311C>T|575|DAK|protein_coding|CODING|NM_015533.3|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8333,0.938,0.9861,0.82,0.49,0.99,,,,,,,,,,,,,,,,
synonymous_variant,TMEM216,SILENT,NM_001173991.2:p.Pro88Pro/c.264G>A,ccG/ccA,LOW,,0.855831,0.9762,rs3741265,,,,,,chr11,61165280,61165280,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro88Pro/c.264G>A|145|TMEM216|protein_coding|CODING|NM_001173990.2|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro88Pro/c.264G>A|148|TMEM216|protein_coding|CODING|NM_001173991.2|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro27Pro/c.81G>A|87|TMEM216|protein_coding|CODING|NM_016499.5|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000114238.2,,0.8538,0.879,0.8678,0.83,0.77,0.86,,,,,,,,,,,,,,,,
splice_acceptor_variant,TMEM216,protein_coding,NM_001173990.2:c.432G>C,,HIGH,COSM1582850(1),0.719649,0.9712,rs10897158,,,,,TMEM216:0.33(3);,chr11,61165741,61165741,G,C,hom,"splice_acceptor_variant(HIGH|||c.432G>C|145|TMEM216|protein_coding|CODING|NM_001173990.2|5|1),missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg147Thr/c.440G>C|148|TMEM216|protein_coding|CODING|NM_001173991.2|5|1),missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg86Thr/c.257G>C|87|TMEM216|protein_coding|CODING|NM_016499.5|5|1),intron_variant(MODIFIER|||c.432-1G>C|145|TMEM216|protein_coding|CODING|NM_001173990.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000114239.1,,0.8108,0.8386,0.8549,0.70,0.39,0.85,,,0.000(P),,,.,2.730605,6.07,4.1,0.655000,1.582000,0.793000,0.794000,1.000000,1.000000,9.2841
synonymous_variant,CPSF7,SILENT,NM_024811.3:p.Ile446Ile/c.1338C>T,atC/atT,LOW,,0.719649,0.9712,rs3019198,,,,,,chr11,61179285,61179285,G,A,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile403Ile/c.1209C>T|471|CPSF7|protein_coding|CODING|NM_001136040.2|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile394Ile/c.1182C>T|462|CPSF7|protein_coding|CODING|NM_001142565.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile446Ile/c.1338C>T|514|CPSF7|protein_coding|CODING|NM_024811.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8108,0.8386,0.8549,0.69,0.37,0.85,,,,,,,,,,,,,,,,
synonymous_variant,PPP1R32,SILENT,NM_145017.2:p.Thr34Thr/c.102C>A,acC/acA,LOW,COSM4145969(1),0.775559,0.9732,rs3019200,,,,,,chr11,61249383,61249383,C,A,hom,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr34Thr/c.102C>A|405|PPP1R32|protein_coding|CODING|NM_001170753.1|2|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr34Thr/c.102C>A|425|PPP1R32|protein_coding|CODING|NM_145017.2|2|1)","HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8415,0.8458,0.826,0.72,0.53,0.82,,,,,,,,,,,,,,,,
synonymous_variant,DAGLA,SILENT,NM_006133.2:p.Ala508Ala/c.1524G>A,gcG/gcA,LOW,COSM3998516(1),0.491414,0.7986,rs198444,,,,,,chr11,61505168,61505168,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala508Ala/c.1524G>A|1042|DAGLA|protein_coding|CODING|NM_006133.2|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.408,0.4986,0.4284,0.41,0.36,0.44,,,,,,,,,,,,,,,,
missense_variant,DAGLA,MISSENSE,NM_006133.2:p.Pro889Leu/c.2666C>T,cCg/cTg,MODERATE,COSM3998517(1),0.178914,0.2569,rs3741252,0.65(T),0.0(B),-0.55(N),-0.9671(T),,chr11,61511498,61511498,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro889Leu/c.2666C>T|1042|DAGLA|protein_coding|CODING|NM_006133.2|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,H1ESC:CTCF",,,,0.1002,0.0504,0.0954,0.13,0.24,0.07,,0.004721(N),1.000(P),2.07(T),0.0000(T),0.05,-2.791726,3.1,-5.51,-3.260000,-1.994000,-2.895000,0.000000,0.000000,0.000000,9.9369
synonymous_variant,MYRF,SILENT,NM_001127392.1:p.Ser1051Ser/c.3153T>C,agT/agC,LOW,COSM1355261(3),0.340056,0.5694,rs174535,,,,,,chr11,61551356,61551356,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser1051Ser/c.3153T>C|1151|MYRF|protein_coding|CODING|NM_001127392.1|24|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser1011Ser/c.3033T>C|1111|MYRF|protein_coding|CODING|NM_013279.2|23|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3","Phospholipid_levels_plasma,Phospholipid_levels_plasma",,,0.1626,0.6037,0.3549,0.29,0.20,0.33,,,,,,,,,,,,,,,,
synonymous_variant,FADS3,SILENT,NM_021727.4:p.Ala18Ala/c.54G>A,gcG/gcA,LOW,COSM3749169(14),0.471645,0.6875,rs174465,,,,,,chr11,61658800,61658800,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala18Ala/c.54G>A|445|FADS3|protein_coding|CODING|NM_021727.4|1|1),"K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.6022,0.3631,0.6829,0.65,0.41,0.76,,,,,,,,,,,,,,,,
synonymous_variant,RAB3IL1,SILENT,NM_013401.3:p.Thr159Thr/c.477G>A,acG/acA,LOW,COSM4145978(2),0.160543,0.0308,rs174476,,,,,,chr11,61674118,61674118,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr159Thr/c.477G>A|382|RAB3IL1|protein_coding|CODING|NM_013401.3|5|1),intron_variant(MODIFIER|||c.579+747G>A|356|RAB3IL1|protein_coding|CODING|NM_001271686.1|4|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.181,0.2291,0.4016,0.30,0.09,0.41,,,,,,,,,,,,,,,,
synonymous_variant,BEST1,SILENT,NM_001139443.1:p.Ser459Ser/c.1377C>T,agC/agT,LOW,COSM3752562(1),0.101438,0.003,rs1800008,,,,,,chr11,61730183,61730183,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser432Ser/c.1296C>T|498|BEST1|protein_coding|CODING|NM_001300786.1|8|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser459Ser/c.1377C>T|525|BEST1|protein_coding|CODING|NM_001300787.1|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser519Ser/c.1557C>T|585|BEST1|protein_coding|CODING|NM_004183.3|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser459Ser/c.1377C>T|604|BEST1|protein_coding|CODING|NM_001139443.1|9|1),downstream_gene_variant(MODIFIER||1574||183|FTH1|protein_coding|CODING|NM_002032.2||1)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,NHEK:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,CD4:PolII,HeLa-S3:Brg1,HMEC:DNase1,GM06990:H3K36me3",,RCV000086088.1,,0.183,0.1239,0.2167,0.17,0.05,0.23,,,,,,,,,,,,,,,,
synonymous_variant,BEST1,SILENT,NM_001139443.1:p.Thr476Thr/c.1428T>C,acT/acC,LOW,,0.591454,0.8552,rs1800009,,,,,,chr11,61730234,61730234,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr449Thr/c.1347T>C|498|BEST1|protein_coding|CODING|NM_001300786.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr476Thr/c.1428T>C|525|BEST1|protein_coding|CODING|NM_001300787.1|9|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr536Thr/c.1608T>C|585|BEST1|protein_coding|CODING|NM_004183.3|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr476Thr/c.1428T>C|604|BEST1|protein_coding|CODING|NM_001139443.1|9|1),downstream_gene_variant(MODIFIER||1523||183|FTH1|protein_coding|CODING|NM_002032.2||1)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,NHEK:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:DNase1,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,CD4:PolII,HeLa-S3:Brg1,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,RCV000086090.1,,0.7127,0.4899,0.3539,0.40,0.49,0.35,,,,,,,,,,,,,,,,
missense_variant,BEST1,MISSENSE,NM_001139443.1:p.Ser583Pro/c.1747T>C,Tcg/Ccg,MODERATE,COSM429421(1),0.104433,0.002,rs17185413,,0.0(B),0(N),-0.8827(T),,chr11,61730553,61730553,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser583Pro/c.1747T>C|604|BEST1|protein_coding|CODING|NM_001139443.1|9|1),downstream_gene_variant(MODIFIER||1204||183|FTH1|protein_coding|CODING|NM_002032.2||1),intron_variant(MODIFIER|||c.1478+188T>C|498|BEST1|protein_coding|CODING|NM_001300786.1|8|1),intron_variant(MODIFIER|||c.1559+188T>C|525|BEST1|protein_coding|CODING|NM_001300787.1|9|1),intron_variant(MODIFIER|||c.1739+188T>C|585|BEST1|protein_coding|CODING|NM_004183.3|10|1)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,NHEK:PolII,HeLa-S3:Max,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HepG2:PolII,HepG2:HEY1,HSMM:DNase1,K562:Cmyc,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,CD4:PolII,HeLa-S3:Brg1,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.1912,0.1268,0.2247,0.19,0.05,0.25,,,1.000(P),"-0.36,-4.29(T,D)",0.0003(T),0.017,3.427298,4.35,-2.91,0.459000,-0.344000,-0.347000,0.259000,0.000000,0.000000,2.0384
synonymous_variant,INCENP,SILENT,NM_001040694.1:p.Glu36Glu/c.108A>G,gaA/gaG,LOW,COSM4145987(1),0.351438,0.131,rs1675131,,,,,,chr11,61895741,61895741,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu36Glu/c.108A>G|918|INCENP|protein_coding|CODING|NM_001040694.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu36Glu/c.108A>G|914|INCENP|protein_coding|CODING|NM_020238.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.3818,0.6859,0.58,0.37,0.69,,,,,,,,,,,,,,,,
synonymous_variant,INCENP,SILENT,NM_001040694.1:p.Val120Val/c.360C>T,gtC/gtT,LOW,COSM429423(6),0.345647,0.1181,rs1675133,,,,,,chr11,61897359,61897359,C,T,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val120Val/c.360C>T|918|INCENP|protein_coding|CODING|NM_001040694.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val120Val/c.360C>T|914|INCENP|protein_coding|CODING|NM_020238.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2413,0.379,0.6859,0.57,0.36,0.68,,,,,,,,,,,,,,,,
synonymous_variant,INCENP,SILENT,NM_001040694.1:p.Asn396Asn/c.1188T>C,aaT/aaC,LOW,COSM147259(3),0.785942,0.4871,rs1675126,,,,,,chr11,61906374,61906374,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn396Asn/c.1188T>C|918|INCENP|protein_coding|CODING|NM_001040694.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn396Asn/c.1188T>C|914|INCENP|protein_coding|CODING|NM_020238.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7157,0.9035,0.9135,0.92,0.91,0.92,,,,,,,,,,,,,,,,
missense_variant,INCENP,MISSENSE,NM_001040694.1:p.Glu644Asp/c.1932G>T,gaG/gaT,MODERATE,COSM3752565(2),0.29393,0.12,rs7129085,0.09(T),"0.996,0.991(D,D)",1.625(L),-0.9346(T),,chr11,61913196,61913196,G,T,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu644Asp/c.1932G>T|918|INCENP|protein_coding|CODING|NM_001040694.1|14|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu640Asp/c.1920G>T|914|INCENP|protein_coding|CODING|NM_020238.2|13|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.227,0.3444,0.6252,0.50,0.26,0.62,,0.000035(D),0.175(P),"2.15,2.17(T,T)",0.0000(T),0.098,2.390187,5.43,0.398,0.561000,0.281000,1.144000,0.739000,0.965000,1.000000,8.8745
missense_variant,AHNAK,MISSENSE,NM_001620.2:p.Gln3003Lys/c.9007C>A,Caa/Aaa,MODERATE,,1,1,rs566144,1(T),0.0(B),-2.785(N),-1.0128(T),,chr11,62292882,62292882,G,T,hom,"missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln3003Lys/c.9007C>A|5890|AHNAK|protein_coding|CODING|NM_001620.2|5|1),intron_variant(MODIFIER|||c.342+9593C>A|149|AHNAK|protein_coding|CODING|NM_024060.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,0.000(P),2.88(T),0.0000(T),0.054,-2.211641,3.97,3.97,-1.316000,0.509000,0.198000,0.011000,0.954000,0.814000,5.6393
synonymous_variant,AHNAK,SILENT,NM_001620.2:p.Ser2647Ser/c.7941C>T,agC/agT,LOW,COSM147262(2),0.473043,0.3046,rs486903,,,,,,chr11,62293948,62293948,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser2647Ser/c.7941C>T|5890|AHNAK|protein_coding|CODING|NM_001620.2|5|1),intron_variant(MODIFIER|||c.342+8527C>T|149|AHNAK|protein_coding|CODING|NM_024060.3|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7689,0.6715,0.7366,0.56,0.19,0.74,,,,,,,,,,,,,,,,
missense_variant,AHNAK,MISSENSE,NM_001620.2:p.Gly2527Asp/c.7580G>A,gGc/gAc,MODERATE,,0.0123802,0,rs141117375,0.01(D),0.998(D),4.025(H),-1.0734(T),,chr11,62294309,62294309,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly2527Asp/c.7580G>A|5890|AHNAK|protein_coding|CODING|NM_001620.2|5|1),intron_variant(MODIFIER|||c.342+8166G>A|149|AHNAK|protein_coding|CODING|NM_024060.3|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0288,0.0308,0.03,0.01,0.04,,,1.000(N),4.77(T),0.0113(T),0.092,1.366260,4.32,3.39,0.298000,0.799000,0.672000,0.005000,0.068000,0.901000,12.5399
missense_variant,AHNAK,MISSENSE,NM_001620.2:p.Val1274Ala/c.3821T>C,gTg/gCg,MODERATE,,0.0061901,0,rs115627503,0.69(T),0.244(B),2.7(M),-0.8892(T),,chr11,62298068,62298068,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1274Ala/c.3821T>C|5890|AHNAK|protein_coding|CODING|NM_001620.2|5|1),intron_variant(MODIFIER|||c.342+4407T>C|149|AHNAK|protein_coding|CODING|NM_024060.3|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0072,0.0086,0.0149,0.01,0.00,0.02,,0.017150(U),1.000(D),4.88(T),0.0055(T),0.094,3.005046,4.89,4.89,0.528000,1.964000,3.631000,0.487000,0.969000,0.071000,14.485
missense_variant,ROM1,MISSENSE,NM_000327.3:p.Gly118Ala/c.353G>C,gGc/gCc,MODERATE,COSM3752576(1),0.935304,1,rs1799959,1(T),0.001(B),-1.31(N),-0.9319(T),,chr11,62381106,62381106,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly118Ala/c.353G>C|351|ROM1|protein_coding|CODING|NM_000327.3|1|1),upstream_gene_variant(MODIFIER||869||918|EML3|protein_coding|CODING|NM_001300793.1||1),upstream_gene_variant(MODIFIER||869||917|EML3|protein_coding|CODING|NM_001300794.1||1),upstream_gene_variant(MODIFIER||869||896|EML3|protein_coding|CODING|NM_153265.2||1),downstream_gene_variant(MODIFIER||1662||328|B3GAT3|protein_coding|CODING|NM_001288721.1||1),downstream_gene_variant(MODIFIER||1662||319|B3GAT3|protein_coding|CODING|NM_001288722.1||1),downstream_gene_variant(MODIFIER||1662||315|B3GAT3|protein_coding|CODING|NM_001288723.1||1),downstream_gene_variant(MODIFIER||1662||335|B3GAT3|protein_coding|CODING|NM_012200.3||1),downstream_gene_variant(MODIFIER||1662|||B3GAT3||CODING|NR_109991.1||1)","CD4:H4K91ac,HUVEC:DNase1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9755,0.995,0.94,0.82,1.00,,0.004414(N),1.000(P),-1.04(T),0.0000(T),0.132,-2.342039,4.64,3.72,-0.647000,0.564000,0.103000,0.015000,0.569000,0.000000,11.3329
missense_variant,UQCC3,MISSENSE,NM_001085372.2:p.Gly84Arg/c.250G>C,Ggc/Cgc,MODERATE,,0.00419329,0,rs55638384,0(D),0.306(B),,-1.0694(T),,chr11,62439554,62439554,G,C,het,"missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly84Arg/c.250G>C|93|UQCC3|protein_coding|CODING|NM_001085372.2|2|1),upstream_gene_variant(MODIFIER||313||263|C11orf48|protein_coding|CODING|NM_024099.3||1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.001,0.0014,0.0179,0.02,0.00,0.02,,,1.000(N),,0.0305(T),0.119,2.028835,3.2,-1.69,-0.797000,-0.691000,.,0.003000,0.000000,.,5.3461
missense_variant,UQCC3,MISSENSE,NM_001085372.2:p.Gly89Ser/c.265G>A,Ggc/Agc,MODERATE,COSM429461(5),0.749401,0.9385,rs13941,0.22(T),0.013(B),,-1.0264(T),,chr11,62439569,62439569,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly89Ser/c.265G>A|93|UQCC3|protein_coding|CODING|NM_001085372.2|2|1),upstream_gene_variant(MODIFIER||328||263|C11orf48|protein_coding|CODING|NM_024099.3||1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.7965,0.7522,0.7296,0.68,0.63,0.71,,,1.000(P),,0.0000(T),0.029,1.220343,3.14,-3.42,-0.367000,-0.828000,0.297000,0.001000,0.001000,0.002000,8.551
synonymous_variant,HNRNPUL2,SILENT,NM_001079559.2:p.Glu637Glu/c.1911G>A,gaG/gaA,LOW,,0.00459265,0,rs142868058,,,,,,chr11,62484531,62484531,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu637Glu/c.1911G>A|747|HNRNPUL2|protein_coding|CODING|NM_001079559.2|11|1),non_coding_exon_variant(MODIFIER|||n.2139G>A||HNRNPUL2-BSCL2||NON_CODING|NR_037946.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0072,0.0129,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,NXF1,SILENT,NM_006362.4:p.Arg403Arg/c.1209A>G,cgA/cgG,LOW,,0.508187,0.5496,rs386594698,,,,,,chr11,62564009,62564009,T,C,hom,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg403Arg/c.1209A>G|619|NXF1|protein_coding|CODING|NM_006362.4|14|1),3_prime_UTR_variant(MODIFIER||3785|c.*1939A>G|356|NXF1|protein_coding|CODING|NM_001081491.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3753,0.4179,0.6233,0.61,0.55,0.64,,,,,,,,,,,,,,,,
synonymous_variant,SLC3A2,SILENT,NM_001012662.2:p.Leu419Leu/c.1255C>T,Cta/Tta,LOW,COSM3752589(1),0.126198,0.2014,rs4726,,,,-1.0254(T),,chr11,62652779,62652779,C,T,hom,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu419Leu/c.1255C>T|631|SLC3A2|protein_coding|CODING|NM_001012662.2|9|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu356Leu/c.1066C>T|568|SLC3A2|protein_coding|CODING|NM_001012664.2|7|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu317Leu/c.949C>T|529|SLC3A2|protein_coding|CODING|NM_001013251.2|6|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu418Leu/c.1252C>T|630|SLC3A2|protein_coding|CODING|NM_002394.5|9|1),non_coding_exon_variant(MODIFIER|||n.843C>T||SLC3A2||CODING|NR_037193.1|6|1)","H1ESC:PolII,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:H3K4me2,NHEK:DNase1",,,,0.0685,0.134,0.2475,0.17,0.05,0.23,,,1.000(P),,0.0000(T),.,1.654527,4.31,2.25,0.313000,1.026000,-0.513000,0.883000,0.062000,0.000000,5.4395
synonymous_variant,SLC22A8,SILENT,NM_001184732.1:p.Thr241Thr/c.723T>A,acT/acA,LOW,COSM3752590(1),0.186102,0.2718,rs2276299,,,,,,chr11,62766431,62766431,A,T,het,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr241Thr/c.723T>A|542|SLC22A8|protein_coding|CODING|NM_001184732.1|5|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr150Thr/c.450T>A|451|SLC22A8|protein_coding|CODING|NM_001184733.1|5|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr118Thr/c.354T>A|419|SLC22A8|protein_coding|CODING|NM_001184736.1|4|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr241Thr/c.723T>A|542|SLC22A8|protein_coding|CODING|NM_004254.3|5|1)","GM06990:H3K27me3,GM12878:H3K36me3",,,,0.1871,0.3516,0.1809,0.13,0.06,0.17,,,,,,,,,,,,,,,,
missense_variant,SLC22A24,MISSENSE,NM_001136506.2:p.Ile540Val/c.1618A>G,Ata/Gta,MODERATE,,0.754193,0.8234,rs7945121,0.3(T),0.002(B),-1.15(N),-1.0079(T),,chr11,62847453,62847453,T,C,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile540Val/c.1618A>G|552|SLC22A24|protein_coding|CODING|NM_001136506.2|10|1),,,,,0.8221,0.8357,0.7922,0.75,0.62,0.80,,,1.000(P),-0.07(T),0.0000(T),0.012,-0.249703,3.41,1.18,-0.270000,-0.121000,-1.321000,0.011000,0.047000,0.001000,5.7315
stop_gained,SLC22A24,NONSENSE,NM_001136506.2:p.Tyr501*/c.1503T>G,taT/taG,HIGH,,0.753994,0.8234,rs11231341,1(T),,,,SLC22A24:0.50(2);SLC22A24:0.50(2);,chr11,62848487,62848487,A,C,het,stop_gained(HIGH|NONSENSE|taT/taG|p.Tyr501*/c.1503T>G|552|SLC22A24|protein_coding|CODING|NM_001136506.2|9|1),HUVEC:H3K27me3,,,,0.8221,0.8343,0.7922,0.75,0.62,0.80,,,0.000(P),,,.,8.221698,3.49,2.33,0.481000,0.519000,0.017000,0.646000,0.994000,0.452000,7.5623
missense_variant,SLC22A24,MISSENSE,NM_173586.2:p.Leu299Val/c.895C>G,Ctg/Gtg,MODERATE,,0.779353,0.8919,rs948060,0.65(T),,,-0.9931(T),,chr11,62886319,62886319,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu299Val/c.895C>G|322|SLC22A24|protein_coding|CODING|NM_173586.2|4|1),intron_variant(MODIFIER|||c.830+65C>G|552|SLC22A24|protein_coding|CODING|NM_001136506.2|4|1)",,,,,0.8436,0.8761,0.8459,,,,,0.257758(U),1.000(P),-0.19(T),0.0000(T),0.049,-0.659879,2.85,-0.547,0.596000,-0.081000,-0.172000,0.010000,0.000000,0.000000,8.5835
synonymous_variant,SLC22A24,SILENT,NM_001136506.2:p.Phe192Phe/c.576C>T,ttC/ttT,LOW,,0.00838658,0.002,rs117269586,,,,,,chr11,62886738,62886738,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe192Phe/c.576C>T|552|SLC22A24|protein_coding|CODING|NM_001136506.2|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe192Phe/c.576C>T|322|SLC22A24|protein_coding|CODING|NM_173586.2|3|1)",,,,,0,0.0101,0.0189,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A24,SILENT,NM_001136506.2:p.Leu157Leu/c.471T>G,ctT/ctG,LOW,,0.991813,1,rs1939782,,,,,,chr11,62902172,62902172,A,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu157Leu/c.471T>G|552|SLC22A24|protein_coding|CODING|NM_001136506.2|2|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu157Leu/c.471T>G|322|SLC22A24|protein_coding|CODING|NM_173586.2|2|1)",HUVEC:H3K27me3,,,,1,0.9957,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
splice_donor_variant,SLC22A24,protein_coding,NM_001136506.2:c.403A>G,,HIGH,,0.753994,0.8899,rs1939749,,,,,SLC22A24:1.00(2);,chr11,62910849,62910849,T,C,het,"splice_donor_variant(HIGH|||c.403A>G|552|SLC22A24|protein_coding|CODING|NM_001136506.2|1|1),splice_donor_variant(HIGH|||c.403A>G|322|SLC22A24|protein_coding|CODING|NM_173586.2|1|1),intron_variant(MODIFIER|||c.402+1A>G|552|SLC22A24|protein_coding|CODING|NM_001136506.2|1|1),intron_variant(MODIFIER|||c.402+1A>G|322|SLC22A24|protein_coding|CODING|NM_173586.2|1|1)",HeLa-S3:H3K27me3,,,,0.8436,0.8559,0.825,0.73,0.52,0.83,,,0.000(P),,,.,1.700103,2.29,2.29,-1.103000,0.327000,2.507000,0.070000,0.380000,1.000000,7.1632
missense_variant,SLC22A24,MISSENSE,NM_001136506.2:p.Ser125Asn/c.374G>A,aGc/aAc,MODERATE,,0.00758786,0,rs138722111,0(D),0.987(D),2.84(M),-0.1930(T),,chr11,62910878,62910878,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser125Asn/c.374G>A|552|SLC22A24|protein_coding|CODING|NM_001136506.2|1|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser125Asn/c.374G>A|322|SLC22A24|protein_coding|CODING|NM_173586.2|1|1)",HeLa-S3:H3K27me3,,,,0,0.0101,0.0189,0.02,0.01,0.03,,0.000490(U),0.723(N),"-1.27,-1.27(T,T)",0.3514(T),0.111,2.032209,2.29,1.35,-1.322000,0.319000,0.441000,0.030000,0.003000,0.029000,8.872
missense_variant,SLC22A24,MISSENSE,NM_001136506.2:p.Thr58Ser/c.173C>G,aCt/aGt,MODERATE,COSM3986316(1),0.753994,0.8899,rs1939748,0.21(T),0.999(D),,-1.0785(T),,chr11,62911079,62911079,G,C,het,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr58Ser/c.173C>G|552|SLC22A24|protein_coding|CODING|NM_001136506.2|1|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr58Ser/c.173C>G|322|SLC22A24|protein_coding|CODING|NM_173586.2|1|1)",HeLa-S3:H3K27me3,,,,0.8436,0.8559,0.825,0.73,0.52,0.83,,0.015455(U),0.999(P),"1.26,1.26(T,T)",0.0000(T),0.038,1.634062,2.29,2.29,0.383000,1.314000,0.469000,0.778000,0.709000,0.246000,10.3962
missense_variant,SLC22A25,MISSENSE,NM_199352.3:p.Met486Val/c.1456A>G,Atg/Gtg,MODERATE,COSM3752591(1),0.543131,0.5337,rs6591771,0.77(T),0.002(B),-1.445(N),-1.0295(T),,chr11,62931484,62931484,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met486Val/c.1456A>G|547|SLC22A25|protein_coding|CODING|NM_199352.3|9|1),"GM12878:H3K27me3,NHEK:H3K27me3",,,,0.5542,0.5,0.4473,0.50,0.62,0.44,,0.465234(N),1.000(P),0.53(T),0.0000(T),0.028,-1.521232,4.56,-9.12,-3.042000,-4.095000,-2.285000,0.000000,0.000000,0.000000,3.3572
missense_variant,SLC22A25,MISSENSE,NM_199352.3:p.Arg300Thr/c.899G>C,aGa/aCa,MODERATE,,0.420327,0.5317,rs11231397,0.03(D),"0.925,0.944(D,D)",2.955(M),-0.9309(T),,chr11,62951221,62951221,C,G,het,missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg300Thr/c.899G>C|547|SLC22A25|protein_coding|CODING|NM_199352.3|5|1),HUVEC:H3K27me3,,,,0.5297,0.4438,0.3946,0.35,0.30,0.38,,0.059854(N),0.007(P),"0.27,-0.85(T,T)",0.0000(T),0.396,-0.531111,2.56,-3.87,0.121000,-1.156000,-0.657000,0.539000,0.366000,0.000000,3.2969
missense_variant,SLC22A25,MISSENSE,NM_199352.3:p.Ser250Gly/c.748A>G,Agc/Ggc,MODERATE,COSM3998528(1),0.428315,0.5288,rs11231409,1(T),"0.002,0.002(B,B)",-2.785(N),-0.9268(T),,chr11,62984868,62984868,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser250Gly/c.748A>G|547|SLC22A25|protein_coding|CODING|NM_199352.3|4|1),HUVEC:H3K27me3,,,,0.5337,0.451,0.3966,0.36,0.32,0.38,,0.662245(N),1.000(P),"0.44,0.36(T,T)",0.0000(T),0.308,-1.546617,3.49,0.346,-0.270000,-0.224000,0.206000,0.003000,0.002000,0.000000,6.9208
synonymous_variant,SLC22A25,SILENT,NM_199352.3:p.Thr108Thr/c.324G>A,acG/acA,LOW,COSM4146033(1),0.00938498,0,rs35740247,,,,,,chr11,62996801,62996801,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr108Thr/c.324G>A|547|SLC22A25|protein_coding|CODING|NM_199352.3|1|1),HUVEC:H3K27me3,,,,0,0.0101,0.0229,0.03,0.02,0.03,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A10,SILENT,NM_001039752.3:p.Ile185Ile/c.555T>C,atT/atC,LOW,,0.559305,0.4692,rs576641,,,,,,chr11,63064823,63064823,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile185Ile/c.555T>C|541|SLC22A10|protein_coding|CODING|NM_001039752.3|3|1),intron_variant(MODIFIER|||n.30-49598A>G||MIR3680-1||NON_CODING|NR_037451.1|2|1),intron_variant(MODIFIER|||n.30-49598A>G||MIR3680-2||NON_CODING|NR_049833.1|2|1)",,,,,0.4683,0.5677,0.6064,0.64,0.65,0.63,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A10,SILENT,NM_001039752.3:p.Val392Val/c.1176T>A,gtT/gtA,LOW,,0.0061901,0,rs56260618,,,,,,chr11,63069906,63069906,T,A,het,"synonymous_variant(LOW|SILENT|gtT/gtA|p.Val392Val/c.1176T>A|541|SLC22A10|protein_coding|CODING|NM_001039752.3|7|1),intron_variant(MODIFIER|||n.30-54681A>T||MIR3680-1||NON_CODING|NR_037451.1|2|1),intron_variant(MODIFIER|||n.30-54681A>T||MIR3680-2||NON_CODING|NR_049833.1|2|1)",GM12878:H3K36me3,,,,0,0.0101,0.0229,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,HRASLS5,MISSENSE,NM_054108.3:p.Ser31Gly/c.91A>G,Agt/Ggt,MODERATE,,0.984225,1,rs10897424,,"0.0,0.0,0.0(B,B,B)",0.805(L),-1.0547(T),,chr11,63258416,63258416,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser31Gly/c.91A>G|253|HRASLS5|protein_coding|CODING|NM_001146728.1|1|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser31Gly/c.91A>G|269|HRASLS5|protein_coding|CODING|NM_001146729.1|1|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser31Gly/c.91A>G|279|HRASLS5|protein_coding|CODING|NM_054108.3|1|1),intron_variant(MODIFIER|||n.29+16421A>G||MIR3680-1||NON_CODING|NR_037451.1|2|1),intron_variant(MODIFIER|||n.29+16421A>G||MIR3680-2||NON_CODING|NR_049833.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9914,1,0.98,0.95,1.00,,,1.000(P),"1.33,1.82,1.34(T,T,T)",0.0000(T),0.083,-0.384570,2.57,-5.14,-2.629000,-1.830000,-1.440000,0.000000,0.000000,0.000000,5.7722
synonymous_variant,RARRES3,SILENT,NM_004585.4:p.Val137Val/c.411T>C,gtT/gtC,LOW,,1,1,rs584905,,,,,,chr11,63313644,63313644,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val137Val/c.411T>C|164|RARRES3|protein_coding|CODING|NM_004585.4|4|1),intron_variant(MODIFIER|||n.19+7462A>G||MIR3680-1||NON_CODING|NR_037451.1|1|1),intron_variant(MODIFIER|||n.19+7462A>G||MIR3680-2||NON_CODING|NR_049833.1|1|1)","H1ESC:H3K27me3,CD4:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,RTN3,MISSENSE,NM_001265589.1:p.Ala6Glu/c.17C>A,gCg/gAg,MODERATE,COSM429501(1),0.0758786,0.003,rs11551944,0(D),"0.434,0.906,0.807,0.298,0.962,0.906,0.962(B,P,P,B,D,P,D)",0.805(L),-1.0189(T),,chr11,63449125,63449125,C,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala6Glu/c.17C>A|1032|RTN3|protein_coding|CODING|NM_001265589.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala6Glu/c.17C>A|920|RTN3|protein_coding|CODING|NM_001265590.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala6Glu/c.17C>A|214|RTN3|protein_coding|CODING|NM_001265591.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala6Glu/c.17C>A|236|RTN3|protein_coding|CODING|NM_006054.3|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala6Glu/c.17C>A|1013|RTN3|protein_coding|CODING|NM_201428.2|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala6Glu/c.17C>A|255|RTN3|protein_coding|CODING|NM_201429.2|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala6Glu/c.17C>A|241|RTN3|protein_coding|CODING|NM_201430.2|1|1),non_coding_exon_variant(MODIFIER|||n.204C>A||RTN3||CODING|NR_049750.1|1|1),non_coding_exon_variant(MODIFIER|||n.204C>A||RTN3||CODING|NR_049751.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:FOSL2,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6",,,,0.1626,0.0648,0.1332,0.12,0.05,0.15,,0.361511(N),0.728(P),"0.55,0.58,0.65,1.1,1.01,0.97,0.22,0.26,0.76,0.18(T,T,T,T,T,T,T,T,T,T)",0.0017(T),0.438,3.403311,4.33,3.42,0.462000,0.819000,0.821000,0.798000,1.000000,1.000000,8.4535
missense_variant,RTN3,MISSENSE,NM_001265589.1:p.Val471Ala/c.1412T>C,gTt/gCt,MODERATE,,0.737021,0.9921,rs542998,0.26(T),"0.006,0.003,0.006(B,B,B)",0.205(N),-1.0117(T),,chr11,63487386,63487386,T,C,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val471Ala/c.1412T>C|1032|RTN3|protein_coding|CODING|NM_001265589.1|3|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val452Ala/c.1355T>C|1013|RTN3|protein_coding|CODING|NM_201428.2|2|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val359Ala/c.1076T>C|920|RTN3|protein_coding|CODING|NM_001265590.1|2|1),intron_variant(MODIFIER|||c.143-30077T>C|214|RTN3|protein_coding|CODING|NM_001265591.1|1|1),intron_variant(MODIFIER|||c.143-30077T>C|236|RTN3|protein_coding|CODING|NM_006054.3|1|1),intron_variant(MODIFIER|||c.143-30077T>C|241|RTN3|protein_coding|CODING|NM_201430.2|1|1),intron_variant(MODIFIER|||n.330-30077T>C||RTN3||CODING|NR_049750.1|1|1),intron_variant(MODIFIER|||n.330-30077T>C||RTN3||CODING|NR_049751.1|1|1),intron_variant(MODIFIER|||c.199+15007T>C|255|RTN3|protein_coding|CODING|NM_201429.2|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.726,0.879,0.8082,0.69,0.48,0.80,,0.145651(N),0.931(P),"2.36,2.36,2.36(T,T,T)",0.0000(T),0.019,-0.761748,6.06,-2.94,-0.451000,-0.490000,-0.075000,0.050000,0.004000,0.025000,2.6536
synonymous_variant,C11orf95,SILENT,NM_001144936.1:p.Arg584Arg/c.1752G>C,cgG/cgC,LOW,,0.188898,0.003,rs2959886,,,,,,chr11,63531175,63531175,C,G,het,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg584Arg/c.1752G>C|678|C11orf95|protein_coding|CODING|NM_001144936.1|5|1),"H1ESC:PolII,H1ESC:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1656,0.0937,0.1372,,,,,,,,,,,,,,,,,,,
synonymous_variant,C11orf84,SILENT,NM_138471.1:p.Arg192Arg/c.574C>A,Cgg/Agg,LOW,COSM3752593(3),0.392572,0.6944,rs386602740,,,,,,chr11,63585804,63585804,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg192Arg/c.574C>A|381|C11orf84|protein_coding|CODING|NM_138471.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3098,0.6354,0.4225,0.36,0.14,0.47,,,,,,,,,,,,,,,,
missense_variant,RCOR2,MISSENSE,NM_173587.3:p.Thr514Ala/c.1540A>G,Acc/Gcc,MODERATE,COSM4146041(2),0.946286,1,rs320108,1(T),0.0(B),-0.69(N),-0.9456(T),,chr11,63679369,63679369,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr514Ala/c.1540A>G|523|RCOR2|protein_coding|CODING|NM_173587.3|12|1),downstream_gene_variant(MODIFIER||877||788|MARK2|protein_coding|CODING|NM_001039469.2||1),downstream_gene_variant(MODIFIER||877||719|MARK2|protein_coding|CODING|NM_001163296.1||1),downstream_gene_variant(MODIFIER||877||709|MARK2|protein_coding|CODING|NM_001163297.1||1),downstream_gene_variant(MODIFIER||877||724|MARK2|protein_coding|CODING|NM_004954.4||1),downstream_gene_variant(MODIFIER||877||745|MARK2|protein_coding|CODING|NM_017490.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9813,1,,,,,0.008943(N),1.000(P),1.61(T),0.0000(T),0.051,0.262822,4.42,4.42,-0.222000,1.258000,0.269000,0.993000,1.000000,0.021000,7.9221
synonymous_variant,RCOR2,SILENT,NM_173587.3:p.Glu268Glu/c.804A>G,gaA/gaG,LOW,COSM4146042(1),0.976438,1,rs10897461,,,,,,chr11,63681513,63681513,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu268Glu/c.804A>G|523|RCOR2|protein_coding|CODING|NM_173587.3|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9885,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FLRT1,SILENT,NM_013280.4:p.Asp82Asp/c.246T>C,gaT/gaC,LOW,,0.525759,0.4167,rs614397,,,,,,chr11,63883985,63883985,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp82Asp/c.246T>C|674|FLRT1|protein_coding|CODING|NM_013280.4|2|1),intron_variant(MODIFIER|||c.517+34726A>G|325|MACROD1|protein_coding|CODING|NM_014067.3|3|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.637,0.6686,0.8519,0.68,0.32,0.86,,,,,,,,,,,,,,,,
synonymous_variant,FLRT1,SILENT,NM_013280.4:p.Ala96Ala/c.288C>T,gcC/gcT,LOW,COSM3765576(1),0.40615,0.3254,rs614035,,,,,,chr11,63884027,63884027,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala96Ala/c.288C>T|674|FLRT1|protein_coding|CODING|NM_013280.4|2|1),intron_variant(MODIFIER|||c.517+34684G>A|325|MACROD1|protein_coding|CODING|NM_014067.3|3|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4366,0.5519,0.6968,0.53,0.23,0.68,,,,,,,,,,,,,,,,
synonymous_variant,FLRT1,SILENT,NM_013280.4:p.Arg238Arg/c.714C>T,cgC/cgT,LOW,COSM3752595(2),0.353035,0.5377,rs3751120,,,,,,chr11,63884453,63884453,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg238Arg/c.714C>T|674|FLRT1|protein_coding|CODING|NM_013280.4|2|1),intron_variant(MODIFIER|||c.517+34258G>A|325|MACROD1|protein_coding|CODING|NM_014067.3|3|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.2188,0.1873,0.0865,0.22,0.50,0.07,,,,,,,,,,,,,,,,
synonymous_variant,FLRT1,SILENT,NM_013280.4:p.Glu631Glu/c.1893A>G,gaA/gaG,LOW,COSM4146045(2),0.954273,1,rs4379854,,,,,,chr11,63885632,63885632,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu631Glu/c.1893A>G|674|FLRT1|protein_coding|CODING|NM_013280.4|2|1),intron_variant(MODIFIER|||c.517+33079T>C|325|MACROD1|protein_coding|CODING|NM_014067.3|3|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,1,0.9856,1,0.95,0.86,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FLRT1,SILENT,NM_013280.4:p.Tyr655Tyr/c.1965C>T,taC/taT,LOW,COSM3765577(1),0.398562,0.3254,rs386605003,,,,,,chr11,63885704,63885704,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr655Tyr/c.1965C>T|674|FLRT1|protein_coding|CODING|NM_013280.4|2|1),intron_variant(MODIFIER|||c.517+33007G>A|325|MACROD1|protein_coding|CODING|NM_014067.3|3|1)","H1ESC:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4335,0.5346,0.6958,0.53,0.22,0.68,,,,,,,,,,,,,,,,
synonymous_variant,FERMT3,SILENT,NM_178443.2:p.Pro487Pro/c.1461G>A,ccG/ccA,LOW,COSM429520(1),0.165335,0.4762,rs3802932,0.18(T),,,-1.0574(T),,chr11,63988045,63988045,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro483Pro/c.1449G>A|663|FERMT3|protein_coding|CODING|NM_031471.5|12|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro487Pro/c.1461G>A|667|FERMT3|protein_coding|CODING|NM_178443.2|12|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0184,0.147,0.0726,0.07,0.10,0.06,,,0.011(P),0.45(T),0.0000(T),.,-2.020701,4.31,-8.61,-2.961000,-3.948000,-1.539000,0.006000,0.024000,0.000000,0.571
splice_donor_variant,TRPT1,protein_coding,NM_001160390.1:c.1C>G,,HIGH,,0.955671,1,rs2429457,,,,,TRPT1:0.17(6);,chr11,63993534,63993534,G,C,hom,"splice_donor_variant(HIGH|||c.1C>G|253|TRPT1|protein_coding|CODING|NM_001160390.1|1|1),5_prime_UTR_variant(MODIFIER||202|c.-22C>G|253|TRPT1|protein_coding|CODING|NM_001033678.3|1|1),5_prime_UTR_variant(MODIFIER||202|c.-22C>G|255|TRPT1|protein_coding|CODING|NM_001160389.1|1|1),5_prime_UTR_variant(MODIFIER||202|c.-22C>G|216|TRPT1|protein_coding|CODING|NM_001160392.1|1|1),5_prime_UTR_variant(MODIFIER||554|c.-85C>G|204|TRPT1|protein_coding|CODING|NM_031472.3|1|1),upstream_gene_variant(MODIFIER||196||303|NUDT22|protein_coding|CODING|NM_001128612.2||1),upstream_gene_variant(MODIFIER||196||270|NUDT22|protein_coding|CODING|NM_001271831.1||1),upstream_gene_variant(MODIFIER||212||270|NUDT22|protein_coding|CODING|NM_001128613.2||1),upstream_gene_variant(MODIFIER||212||303|NUDT22|protein_coding|CODING|NM_032344.3||1),upstream_gene_variant(MODIFIER||193||254|TRPT1|protein_coding|CODING|NM_001160393.1||1),intron_variant(MODIFIER|||c.-11+1C>G|253|TRPT1|protein_coding|CODING|NM_001160390.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27ac,HUVEC:CTCF,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:THAP1,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,1,0.9841,1,,,,,,,,,,,,,,,,,,,
missense_variant,NUDT22,MISSENSE,NM_001128612.2:p.Gln260Arg/c.779A>G,cAg/cGg,MODERATE,,0.94389,0.9861,rs386602342,0.88(T),"0.001,0.001(B,B)",1.04(L),-0.9867(T),,chr11,63997329,63997329,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln260Arg/c.779A>G|303|NUDT22|protein_coding|CODING|NM_001128612.2|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln227Arg/c.680A>G|270|NUDT22|protein_coding|CODING|NM_001128613.2|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln227Arg/c.680A>G|270|NUDT22|protein_coding|CODING|NM_001271831.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln260Arg/c.779A>G|303|NUDT22|protein_coding|CODING|NM_032344.3|6|1),upstream_gene_variant(MODIFIER||424||241|DNAJC4|protein_coding|CODING|NM_005528.3||1)","K562:PolII,K562:H3K27ac,GM12878:H3K27ac,GM12878:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,CD4:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9918,0.9827,0.998,0.94,0.84,1.00,,0.830746(N),1.000(P),"2.35,2.34(T,T)",0.0000(T),0.075,1.205162,4.74,-8.76,-1.163000,-2.544000,-0.873000,0.261000,0.000000,0.000000,4.8797
missense_variant,NUDT22,MISSENSE,NM_001128612.2:p.Leu263Pro/c.788T>C,cTc/cCc,MODERATE,,0.953474,1,rs633557,0.26(T),"0.001,0.001(B,B)",0(N),-1.0645(T),,chr11,63997338,63997338,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu263Pro/c.788T>C|303|NUDT22|protein_coding|CODING|NM_001128612.2|6|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu230Pro/c.689T>C|270|NUDT22|protein_coding|CODING|NM_001128613.2|5|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu230Pro/c.689T>C|270|NUDT22|protein_coding|CODING|NM_001271831.1|5|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu263Pro/c.788T>C|303|NUDT22|protein_coding|CODING|NM_032344.3|6|1),upstream_gene_variant(MODIFIER||415||241|DNAJC4|protein_coding|CODING|NM_005528.3||1)","K562:PolII,K562:H3K27ac,GM12878:H3K27ac,GM12878:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,CD4:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9841,1,0.95,0.86,1.00,,0.087670(N),0.551(P),"2.28,2.28(T,T)",0.0000(T),0.225,1.855620,4.84,1.24,-1.272000,-0.106000,1.209000,0.423000,0.965000,1.000000,2.2504
synonymous_variant,PLCB3,SILENT,NM_000932.2:p.Pro112Pro/c.336A>G,ccA/ccG,LOW,,0.953874,1,rs632439,,,,,,chr11,64022459,64022459,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro112Pro/c.336A>G|1234|PLCB3|protein_coding|CODING|NM_000932.2|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro45Pro/c.135A>G|1167|PLCB3|protein_coding|CODING|NM_001184883.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.95,0.86,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PLCB3,SILENT,NM_000932.2:p.Ser404Ser/c.1212G>A,tcG/tcA,LOW,COSM4146054(1),0.408946,0.2688,rs2244625,,,,,,chr11,64026144,64026144,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser404Ser/c.1212G>A|1234|PLCB3|protein_coding|CODING|NM_000932.2|11|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser337Ser/c.1011G>A|1167|PLCB3|protein_coding|CODING|NM_001184883.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.544,0.5202,0.667,0.53,0.24,0.68,,,,,,,,,,,,,,,,
missense_variant,PLCB3,MISSENSE,NM_000932.2:p.Ser845Leu/c.2534C>T,tCg/tTg,MODERATE,,0.0227636,0,rs35169799,0.01(D),"0.377,0.177(B,B)",0.755(N),-1.0907(T),,chr11,64031241,64031241,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser845Leu/c.2534C>T|1234|PLCB3|protein_coding|CODING|NM_000932.2|21|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser778Leu/c.2333C>T|1167|PLCB3|protein_coding|CODING|NM_001184883.1|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.0235,0.0303,0.0666,0.05,0.02,0.07,,0.000167(D),0.934(D),"2.11,2.11,1.98(T,T,T)",0.0038(T),0.371,2.918361,5.25,5.25,0.561000,2.462000,2.527000,0.334000,0.952000,0.637000,13.2818
synonymous_variant,KCNK4,SILENT,NM_033310.2:p.Thr281Thr/c.843G>A,acG/acA,LOW,COSM1746430(2),0.791733,0.9177,rs2232417,0(D),0.005(B),,-0.9856(T),,chr11,64066859,64066859,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr281Thr/c.843G>A|393|KCNK4|protein_coding|CODING|NM_033310.2|7|1),upstream_gene_variant(MODIFIER||1004||200|TEX40|protein_coding|CODING|NM_001039496.1||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.774,0.9481,0.994,0.88,0.65,1.00,,,0.393(P),,0.0000(T),.,1.811223,4.52,-9.03,-0.367000,-3.285000,-2.551000,0.939000,0.036000,0.007000,2.9406
missense_variant,KCNK4,MISSENSE,NM_033310.2:p.Pro328Leu/c.983C>T,cCg/cTg,MODERATE,COSM3752601(1),0.280751,0.5437,rs953778,0.03(D),"0.01,0.003(B,B)",0.345(N),-0.9279(T),,chr11,64066999,64066999,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro328Leu/c.983C>T|393|KCNK4|protein_coding|CODING|NM_033310.2|7|1),upstream_gene_variant(MODIFIER||864||200|TEX40|protein_coding|CODING|NM_001039496.1||1)","H1ESC:H3K36me3,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1861,0.2939,0.1561,0.16,0.20,0.14,,0.194476(N),0.201(P),"2.47,2.47,2.47(T,T,T)",0.0000(T),0.062,1.330851,4.28,3.34,0.561000,2.233000,1.855000,0.206000,0.156000,0.220000,8.1533
missense_variant,ESRRA,MISSENSE,NM_001282450.1:p.Arg375Gln/c.1124G>A,cGg/cAg,MODERATE,COSM1746432(2),,,rs150848359,,,-0.255(N),-0.2814(T),,chr11,64083290,64083290,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg375Gln/c.1124G>A|423|ESRRA|protein_coding|CODING|NM_001282450.1|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg374Gln/c.1121G>A|422|ESRRA|protein_coding|CODING|NM_001282451.1|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg375Gln/c.1124G>A|423|ESRRA|protein_coding|CODING|NM_004451.4|7|1),downstream_gene_variant(MODIFIER||674||120|TRMT112|protein_coding|CODING|NM_001286082.1||1),downstream_gene_variant(MODIFIER||674||106|TRMT112|protein_coding|CODING|NM_001286084.1||1),downstream_gene_variant(MODIFIER||674||125|TRMT112|protein_coding|CODING|NM_016404.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,,,,,,0.967(D),,0.1160(T),.,2.992955,4.36,4.36,0.561000,2.436000,5.393000,0.940000,1.000000,1.000000,10.6001
synonymous_variant,ESRRA,SILENT,NM_001282450.1:p.Ala378Ala/c.1134G>A,gcG/gcA,LOW,COSM1746434(4),,,rs199950340,,,,-0.9978(T),,chr11,64083300,64083300,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala378Ala/c.1134G>A|423|ESRRA|protein_coding|CODING|NM_001282450.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala377Ala/c.1131G>A|422|ESRRA|protein_coding|CODING|NM_001282451.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala378Ala/c.1134G>A|423|ESRRA|protein_coding|CODING|NM_004451.4|7|1),downstream_gene_variant(MODIFIER||664||120|TRMT112|protein_coding|CODING|NM_001286082.1||1),downstream_gene_variant(MODIFIER||664||106|TRMT112|protein_coding|CODING|NM_001286084.1||1),downstream_gene_variant(MODIFIER||664||125|TRMT112|protein_coding|CODING|NM_016404.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,,,,,,1.000(D),,0.1099(T),.,-0.399835,4.36,-1.69,-1.384000,-0.007000,-3.095000,0.488000,0.999000,0.000000,1.838
synonymous_variant,ESRRA,SILENT,NM_001282450.1:p.Thr384Thr/c.1152G>A,acG/acA,LOW,COSM3931390(1),,,,,,,-0.9453(T),,chr11,64083318,64083318,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr384Thr/c.1152G>A|423|ESRRA|protein_coding|CODING|NM_001282450.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr383Thr/c.1149G>A|422|ESRRA|protein_coding|CODING|NM_001282451.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr384Thr/c.1152G>A|423|ESRRA|protein_coding|CODING|NM_004451.4|7|1),downstream_gene_variant(MODIFIER||646||120|TRMT112|protein_coding|CODING|NM_001286082.1||1),downstream_gene_variant(MODIFIER||646||106|TRMT112|protein_coding|CODING|NM_001286084.1||1),downstream_gene_variant(MODIFIER||646||125|TRMT112|protein_coding|CODING|NM_016404.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,,,,,,1.000(D),,0.0943(T),.,0.210599,4.36,-8.71,-0.367000,-1.525000,-2.791000,0.927000,0.159000,0.000000,3.5924
missense_variant,ESRRA,MISSENSE,NM_001282450.1:p.Leu385Pro/c.1154T>C,cTa/cCa,MODERATE,COSM3931391(1),,,rs201072913,0(D),"0.999,1.0(D,D)",3.84(H),0.3905(D),,chr11,64083320,64083320,T,C,het,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu385Pro/c.1154T>C|423|ESRRA|protein_coding|CODING|NM_001282450.1|7|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu384Pro/c.1151T>C|422|ESRRA|protein_coding|CODING|NM_001282451.1|7|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu385Pro/c.1154T>C|423|ESRRA|protein_coding|CODING|NM_004451.4|7|1),downstream_gene_variant(MODIFIER||644||120|TRMT112|protein_coding|CODING|NM_001286082.1||1),downstream_gene_variant(MODIFIER||644||106|TRMT112|protein_coding|CODING|NM_001286084.1||1),downstream_gene_variant(MODIFIER||644||125|TRMT112|protein_coding|CODING|NM_016404.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,,,,,0.000004(D),1.000(D),"0.3,0.3,0.3(T,T,T)",0.5876(D),0.976,3.314987,4.36,4.36,0.459000,1.972000,7.822000,0.930000,0.192000,1.000000,11.8235
missense_variant,ESRRA,MISSENSE,NM_001282450.1:p.Leu388Phe/c.1162C>T,Ctc/Ttc,MODERATE,COSM1746435(2),,,rs79204587,0.03(D),"0.997,1.0(D,D)",3.305(M),0.2025(D),,chr11,64083328,64083328,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu388Phe/c.1162C>T|423|ESRRA|protein_coding|CODING|NM_001282450.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu387Phe/c.1159C>T|422|ESRRA|protein_coding|CODING|NM_001282451.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu388Phe/c.1162C>T|423|ESRRA|protein_coding|CODING|NM_004451.4|7|1),downstream_gene_variant(MODIFIER||636||120|TRMT112|protein_coding|CODING|NM_001286082.1||1),downstream_gene_variant(MODIFIER||636||106|TRMT112|protein_coding|CODING|NM_001286084.1||1),downstream_gene_variant(MODIFIER||636||125|TRMT112|protein_coding|CODING|NM_016404.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,,,,,0.000000(D),1.000(D),"-0.05,-0.05,-0.05(T,T,T)",0.5148(D),0.813,4.071838,4.36,4.36,0.561000,2.436000,7.599000,0.953000,1.000000,1.000000,14.7699
missense_variant,ESRRA,MISSENSE,NM_001282450.1:p.Arg389Cys/c.1165C>T,Cgc/Tgc,MODERATE,COSM1746436(4),,,rs80310817,0(D),"0.995,0.984(D,D)",3.79(H),0.1945(D),,chr11,64083331,64083331,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg389Cys/c.1165C>T|423|ESRRA|protein_coding|CODING|NM_001282450.1|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg388Cys/c.1162C>T|422|ESRRA|protein_coding|CODING|NM_001282451.1|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg389Cys/c.1165C>T|423|ESRRA|protein_coding|CODING|NM_004451.4|7|1),downstream_gene_variant(MODIFIER||633||120|TRMT112|protein_coding|CODING|NM_001286082.1||1),downstream_gene_variant(MODIFIER||633||106|TRMT112|protein_coding|CODING|NM_001286084.1||1),downstream_gene_variant(MODIFIER||633||125|TRMT112|protein_coding|CODING|NM_016404.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,,,,,0.000000(D),1.000(D),"0.35,0.35,0.35(T,T,T)",0.4617(T),0.798,3.261136,4.36,4.36,0.561000,2.436000,2.935000,0.957000,1.000000,0.992000,14.7699
missense_variant,PRDX5,MISSENSE,NM_012094.4:p.Tyr33Cys/c.98A>G,tAc/tGc,MODERATE,COSM429533(5),0.938898,1,rs7938623,0.18(T),"0.017,0.0,0.0(B,B,B)",0(N),-0.9542(T),,chr11,64085785,64085785,A,G,hom,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr33Cys/c.98A>G|214|PRDX5|protein_coding|CODING|NM_012094.4|1|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr33Cys/c.98A>G|170|PRDX5|protein_coding|CODING|NM_181651.2|1|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr33Cys/c.98A>G|125|PRDX5|protein_coding|CODING|NM_181652.2|1|1),upstream_gene_variant(MODIFIER||229||120|TRMT112|protein_coding|CODING|NM_001286082.1||1),upstream_gene_variant(MODIFIER||229||106|TRMT112|protein_coding|CODING|NM_001286084.1||1),upstream_gene_variant(MODIFIER||229||125|TRMT112|protein_coding|CODING|NM_016404.2||1),downstream_gene_variant(MODIFIER||1573||423|ESRRA|protein_coding|CODING|NM_001282450.1||1),downstream_gene_variant(MODIFIER||1573||422|ESRRA|protein_coding|CODING|NM_001282451.1||1),downstream_gene_variant(MODIFIER||1573||423|ESRRA|protein_coding|CODING|NM_004451.4||1)","NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,HMEC:CTCF,HUVEC:Cmyc,HUVEC:H3K4me2,GM12878:EBF,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HeLa-S3:Ini1,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,1,0.9813,1,0.94,0.81,1.00,,0.000047(N),1.000(P),"0.95,0.93,0.79(T,T,T)",0.0000(T),0.106,1.066643,3.18,-3.83,-0.665000,-1.213000,-0.272000,0.010000,0.000000,0.000000,1.4503
missense_variant,CCDC88B,MISSENSE,NM_032251.5:p.Asp193Glu/c.579T>G,gaT/gaG,MODERATE,COSM429535(3),0.353035,0.2401,rs647152,1(T),"0.0,0.0(B,B)",-1.29(N),-0.9287(T),,chr11,64109118,64109118,T,G,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp193Glu/c.579T>G|1476|CCDC88B|protein_coding|CODING|NM_032251.5|7|1),downstream_gene_variant(MODIFIER||203|||MIR7155||NON_CODING|NR_106977.1||1)","GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4223,0.3991,0.3708,0.36,0.35,0.36,,,0.000(P),1.75(T),0.0000(T),0.056,-0.687781,4.09,2.11,-0.383000,0.129000,0.044000,0.408000,0.937000,0.285000,2.3045
synonymous_variant,CCDC88B,SILENT,NM_032251.5:p.Ser360Ser/c.1080G>A,tcG/tcA,LOW,COSM3752603(5),0.22484,0.1657,rs574835,,,,,,chr11,64110668,64110668,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser360Ser/c.1080G>A|1476|CCDC88B|protein_coding|CODING|NM_032251.5|11|1),upstream_gene_variant(MODIFIER||1292|||MIR7155||NON_CODING|NR_106977.1||1)","HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.226,0.3703,0.3658,0.24,0.11,0.31,,,,,,,,,,,,,,,,
synonymous_variant,CCDC88B,SILENT,NM_032251.5:p.Ala365Ala/c.1095G>C,gcG/gcC,LOW,COSM429536(4),0.351637,0.248,rs479552,,,,,,chr11,64110683,64110683,G,C,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala365Ala/c.1095G>C|1476|CCDC88B|protein_coding|CODING|NM_032251.5|11|1),upstream_gene_variant(MODIFIER||1307|||MIR7155||NON_CODING|NR_106977.1||1)","HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,CD4:H2BK5me1,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.4243,0.3991,0.3718,0.32,0.31,0.33,,,,,,,,,,,,,,,,
missense_variant,CCDC88B,MISSENSE,NM_032251.5:p.Trp639Arg/c.1915T>C,Tgg/Cgg,MODERATE,COSM429538(2),0.533746,0.3492,rs685870,0.58(T),"0.0,0.0(B,B)",0(N),-0.9948(T),,chr11,64111928,64111928,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp639Arg/c.1915T>C|1476|CCDC88B|protein_coding|CODING|NM_032251.5|14|1),"GM12878:H3K36me3,CD4:H4K20me1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7587,0.562,0.6769,0.61,0.43,0.69,,,1.000(P),2.05(T),0.0000(T),0.012,-0.453005,3.45,-1.31,-2.129000,-0.307000,-0.975000,0.056000,0.000000,0.000000,5.1536
synonymous_variant,CCDC88B,SILENT,NM_032251.5:p.Ala679Ala/c.2037C>T,gcC/gcT,LOW,,0.0113818,0,rs35864060,,,,,,chr11,64112050,64112050,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala679Ala/c.2037C>T|1476|CCDC88B|protein_coding|CODING|NM_032251.5|14|1),"GM12878:H3K36me3,CD4:H4K20me1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0072,0.0058,0.0427,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,CCDC88B,MISSENSE,NM_032251.5:p.Asp886Ala/c.2657A>C,gAc/gCc,MODERATE,COSM4146062(1),0.961861,1,rs1318165,0.98(T),"0.002,0.0,0.0(B,B,B)",-0.665(N),-0.9601(T),,chr11,64116843,64116843,A,C,hom,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp886Ala/c.2657A>C|1476|CCDC88B|protein_coding|CODING|NM_032251.5|15|1),"GM12878:H3K36me3,HeLa-S3:H3K27ac,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9856,1,0.96,0.88,1.00,,,0.629(P),"1.99,0.96(T,T)",0.0000(T),0.05,-0.462029,3.68,0.0977,-1.437000,-0.011000,-0.843000,0.188000,0.955000,0.000000,10.3022
synonymous_variant,CCDC88B,SILENT,NM_032251.5:p.Pro1460Pro/c.4380T>C,ccT/ccC,LOW,COSM4146065(1),0.260184,0.1845,rs612448,,0.0(B),,-0.9176(T),,chr11,64124515,64124515,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1460Pro/c.4380T>C|1476|CCDC88B|protein_coding|CODING|NM_032251.5|27|1),"K562:H3K4me1,GM12878:H3K36me3,HeLa-S3:H3K27ac,GM06990:H3K36me3",,,,0.364,0.4107,0.4334,0.32,0.10,0.43,,,1.000(P),0.37(T),0.0000(T),.,1.545644,3.89,0.573,-0.511000,0.007000,-0.393000,0.161000,0.010000,0.000000,3.3622
synonymous_variant,RPS6KA4,SILENT,NM_003942.2:p.Gln79Gln/c.237A>G,caA/caG,LOW,COSM3752606(4),0.269569,0.2083,rs521950,,,,,,chr11,64127744,64127744,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln79Gln/c.237A>G|766|RPS6KA4|protein_coding|CODING|NM_001006944.1|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln79Gln/c.237A>G|765|RPS6KA4|protein_coding|CODING|NM_001300802.1|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln79Gln/c.237A>G|772|RPS6KA4|protein_coding|CODING|NM_003942.2|3|1)","NHEK:CTCF,H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,GM12878:CTCF,GM12878:ZEB1,IMR90:H3K36me3,CD4:H2BK5me1,HMEC:CTCF,CD4:H3K4me1,NHEK:H3K36me3,CD4:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3",,,,0.364,0.4078,0.4324,0.29,0.11,0.38,,,,,,,,,,,,,,,,
synonymous_variant,RPS6KA4,SILENT,NM_003942.2:p.Asn724Asn/c.2172T>C,aaT/aaC,LOW,,0.252995,0.2113,rs11542299,,,,,,chr11,64138805,64138805,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn718Asn/c.2154T>C|766|RPS6KA4|protein_coding|CODING|NM_001006944.1|17|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn717Asn/c.2151T>C|765|RPS6KA4|protein_coding|CODING|NM_001300802.1|17|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn724Asn/c.2172T>C|772|RPS6KA4|protein_coding|CODING|NM_003942.2|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3548,0.3833,0.3708,0.26,0.10,0.35,,,,,,,,,,,,,,,,
missense_variant,RPS6KA4,MISSENSE,NM_003942.2:p.Ser758Ala/c.2272T>G,Tcc/Gcc,MODERATE,,0.252995,0.2123,rs17857342,0(D),"0.0,0.0,0.0,0.0(B,B,B,B)",0.69(N),-0.9931(T),,chr11,64138905,64138905,T,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser752Ala/c.2254T>G|766|RPS6KA4|protein_coding|CODING|NM_001006944.1|17|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser751Ala/c.2251T>G|765|RPS6KA4|protein_coding|CODING|NM_001300802.1|17|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser758Ala/c.2272T>G|772|RPS6KA4|protein_coding|CODING|NM_003942.2|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.3833,0.3708,0.20,0.06,0.26,,0.061478(N),1.000(P),"-0.28,-0.24,-0.2(T,T,T)",0.0000(T),0.034,-2.471938,4.42,0.286,-2.538000,-0.570000,-0.066000,0.004000,0.001000,0.048000,1.4991
synonymous_variant,SLC22A12,SILENT,NM_144585.3:p.His86His/c.258C>T,caC/caT,LOW,COSM3752610(4),0.387181,0.2192,rs3825016,,,,,,chr11,64359286,64359286,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His86His/c.258C>T|519|SLC22A12|protein_coding|CODING|NM_001276326.1|1|1),synonymous_variant(LOW|SILENT|caC/caT|p.His86His/c.258C>T|445|SLC22A12|protein_coding|CODING|NM_001276327.1|1|1),synonymous_variant(LOW|SILENT|caC/caT|p.His86His/c.258C>T|553|SLC22A12|protein_coding|CODING|NM_144585.3|1|1),5_prime_UTR_variant(MODIFIER||1823|c.-251C>T|332|SLC22A12|protein_coding|CODING|NM_153378.2|2|1)","K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5869,0.4323,0.7058,0.54,0.21,0.71,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A12,SILENT,NM_144585.3:p.His142His/c.426T>C,caT/caC,LOW,,0.385982,0.2212,rs11231825,,,,,,chr11,64360274,64360274,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His142His/c.426T>C|519|SLC22A12|protein_coding|CODING|NM_001276326.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His142His/c.426T>C|445|SLC22A12|protein_coding|CODING|NM_001276327.1|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His142His/c.426T>C|553|SLC22A12|protein_coding|CODING|NM_144585.3|2|1),5_prime_UTR_variant(MODIFIER||835|c.-83T>C|332|SLC22A12|protein_coding|CODING|NM_153378.2|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5869,0.4323,0.7058,0.54,0.20,0.71,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A12,SILENT,NM_144585.3:p.Ala416Ala/c.1248A>G,gcA/gcG,LOW,,0.976837,1,rs1630320,,,,,,chr11,64367325,64367325,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala382Ala/c.1146A>G|519|SLC22A12|protein_coding|CODING|NM_001276326.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala308Ala/c.924A>G|445|SLC22A12|protein_coding|CODING|NM_001276327.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala416Ala/c.1248A>G|553|SLC22A12|protein_coding|CODING|NM_144585.3|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala195Ala/c.585A>G|332|SLC22A12|protein_coding|CODING|NM_153378.2|7|1)","K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9877,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NRXN2,SILENT,NM_015080.3:p.Ile915Ile/c.2745C>T,atC/atT,LOW,COSM4146072(1),0.381789,0.2212,rs526338,,,,,,chr11,64418900,64418900,G,A,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile915Ile/c.2745C>T|1712|NRXN2|protein_coding|CODING|NM_015080.3|14|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile875Ile/c.2625C>T|1642|NRXN2|protein_coding|CODING|NM_138732.2|12|1)","NHEK:CTCF,K562:CTCF,H1ESC:H3K27me3,HMEC:CTCF,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000117850.2,,0.6125,0.415,0.7137,0.52,0.17,0.71,,,,,,,,,,,,,,,,
synonymous_variant,NRXN2,SILENT,NM_015080.3:p.Gly177Gly/c.531C>T,ggC/ggT,LOW,COSM3749174(9),0.533546,0.5407,rs2518907,,,,,,chr11,64480641,64480641,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly177Gly/c.531C>T|1712|NRXN2|protein_coding|CODING|NM_015080.3|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly177Gly/c.531C>T|1642|NRXN2|protein_coding|CODING|NM_138732.2|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000117854.2,,0.7096,0.5403,0.7604,0.68,0.44,0.80,,,,,,,,,,,,,,,,
missense_variant,PYGM,MISSENSE,NM_005609.2:p.Ala365Val/c.1094C>T,gCg/gTg,MODERATE,,0.000998403,0.001,rs116135678,0(D),"1.0,1.0(D,D)",3.98(H),1.0915(D),,chr11,64521496,64521496,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala277Val/c.830C>T|754|PYGM|protein_coding|CODING|NM_001164716.1|8|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala365Val/c.1094C>T|842|PYGM|protein_coding|CODING|NM_005609.2|10|1),splice_region_variant(LOW|||c.830C>T|754|PYGM|protein_coding|CODING|NM_001164716.1|8|1),splice_region_variant(LOW|||c.1094C>T|842|PYGM|protein_coding|CODING|NM_005609.2|10|1)",CD4:H2BK5me1,,,,0,0,0.004,0.00,0.00,0.00,,0.000422(D),1.000(D),"-3.63,-3.63(D,D)",0.9425(D),0.954,4.435506,4.8,4.8,0.561000,2.483000,9.657000,0.336000,0.990000,1.000000,15.3894
missense_variant,MEN1,MISSENSE,NM_000244.3:p.Thr546Ala/c.1636A>G,Aca/Gca,MODERATE,COSM255213(1),0.834465,0.6964,rs2959656,0.93(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-0.9362(T),,chr11,64572018,64572018,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|615|MEN1|protein_coding|CODING|NM_000244.3|10|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr541Ala/c.1621A>G|610|MEN1|protein_coding|CODING|NM_130799.2|10|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|615|MEN1|protein_coding|CODING|NM_130800.2|10|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|615|MEN1|protein_coding|CODING|NM_130801.2|10|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|615|MEN1|protein_coding|CODING|NM_130802.2|10|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|615|MEN1|protein_coding|CODING|NM_130803.2|10|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|615|MEN1|protein_coding|CODING|NM_130804.2|11|1),upstream_gene_variant(MODIFIER||1305||820|MAP4K2|protein_coding|CODING|NM_004579.3||1)","H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,RCV000034785.2|RCV000082334.1,,0.9949,0.902,0.9911,0.91,0.74,1.00,,0.230928(N),1.000(P),"-5.71,-5.71,-5.71,-5.71,-5.71,-5.71,-5.71,-5.71,-5.71,-5.71(D,D,D,D,D,D,D,D,D,D)",0.0000(T),0.05,-1.705252,4.35,3.35,-0.366000,0.982000,0.131000,0.022000,0.124000,0.006000,5.4999
synonymous_variant,MEN1,SILENT,NM_000244.3:p.His438His/c.1314T>C,caT/caC,LOW,,0.976038,1,rs540012,,,,,,chr11,64572557,64572557,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His438His/c.1314T>C|615|MEN1|protein_coding|CODING|NM_000244.3|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His433His/c.1299T>C|610|MEN1|protein_coding|CODING|NM_130799.2|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His438His/c.1314T>C|615|MEN1|protein_coding|CODING|NM_130800.2|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His438His/c.1314T>C|615|MEN1|protein_coding|CODING|NM_130801.2|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His438His/c.1314T>C|615|MEN1|protein_coding|CODING|NM_130802.2|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His438His/c.1314T>C|615|MEN1|protein_coding|CODING|NM_130803.2|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His438His/c.1314T>C|615|MEN1|protein_coding|CODING|NM_130804.2|10|1),upstream_gene_variant(MODIFIER||1844||820|MAP4K2|protein_coding|CODING|NM_004579.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MEN1,SILENT,NM_000244.3:p.Asp423Asp/c.1269C>T,gaC/gaT,LOW,COSM3752612(3),0.307907,0.372,rs2071313,,,,,,chr11,64572602,64572602,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp423Asp/c.1269C>T|615|MEN1|protein_coding|CODING|NM_000244.3|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp418Asp/c.1254C>T|610|MEN1|protein_coding|CODING|NM_130799.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp423Asp/c.1269C>T|615|MEN1|protein_coding|CODING|NM_130800.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp423Asp/c.1269C>T|615|MEN1|protein_coding|CODING|NM_130801.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp423Asp/c.1269C>T|615|MEN1|protein_coding|CODING|NM_130802.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp423Asp/c.1269C>T|615|MEN1|protein_coding|CODING|NM_130803.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp423Asp/c.1269C>T|615|MEN1|protein_coding|CODING|NM_130804.2|10|1),upstream_gene_variant(MODIFIER||1889||820|MAP4K2|protein_coding|CODING|NM_004579.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000082332.1,,0.5164,0.2997,0.4056,0.30,0.09,0.41,,,,,,,,,,,,,,,,
synonymous_variant,CDC42BPG,SILENT,NM_017525.2:p.Leu1543Leu/c.4629A>G,ctA/ctG,LOW,COSM1355815(2),0.411542,0.0526,rs10792447,,,,,,chr11,64591972,64591972,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1543Leu/c.4629A>G|1551|CDC42BPG|protein_coding|CODING|NM_017525.2|37|1),"HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.4438,0.4092,0.6213,0.61,0.52,0.66,,,,,,,,,,,,,,,,
synonymous_variant,CDC42BPG,SILENT,NM_017525.2:p.Gly1235Gly/c.3705C>A,ggC/ggA,LOW,COSM3749175(5),0.273762,0.4931,rs7936466,,,,,,chr11,64597205,64597205,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly1235Gly/c.3705C>A|1551|CDC42BPG|protein_coding|CODING|NM_017525.2|30|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.4192,0.2147,0.2555,0.18,0.08,0.23,,,,,,,,,,,,,,,,
missense_variant,CDC42BPG,MISSENSE,NM_017525.2:p.Gln1135Arg/c.3404A>G,cAg/cGg,MODERATE,COSM3721192(4),0.316494,0.0486,rs3741395,0.17(T),0.001(B),-0.21(N),-1.0263(T),,chr11,64597506,64597506,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1135Arg/c.3404A>G|1551|CDC42BPG|protein_coding|CODING|NM_017525.2|30|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.3978,0.3602,0.5765,0.51,0.31,0.61,,0.601684(N),0.911(P),3.03(T),0.0000(T),0.112,1.085668,4.78,-0.416,-0.242000,-0.280000,0.170000,0.454000,0.983000,0.988000,8.586
synonymous_variant,CDC42BPG,SILENT,NM_017525.2:p.Thr764Thr/c.2292A>G,acA/acG,LOW,COSM3749176(4),0.27476,0.4921,rs7933683,,,,,,chr11,64601933,64601933,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr764Thr/c.2292A>G|1551|CDC42BPG|protein_coding|CODING|NM_017525.2|19|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4254,0.2147,0.2575,0.16,0.07,0.20,,,,,,,,,,,,,,,,
synonymous_variant,EHD1,SILENT,NM_001282445.1:p.Pro532Pro/c.1596T>C,ccT/ccC,LOW,,1,1,rs3897618,,,,,,chr11,64621856,64621856,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro518Pro/c.1554T>C|534|EHD1|protein_coding|CODING|NM_001282444.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro532Pro/c.1596T>C|548|EHD1|protein_coding|CODING|NM_001282445.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro518Pro/c.1554T>C|534|EHD1|protein_coding|CODING|NM_006795.3|5|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H2AK5ac,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,EHD1,SILENT,NM_001282445.1:p.Leu349Leu/c.1047C>G,ctC/ctG,LOW,COSM3752613(1),0.696086,0.5625,rs10897533,,,,,,chr11,64622869,64622869,G,C,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu335Leu/c.1005C>G|534|EHD1|protein_coding|CODING|NM_001282444.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu349Leu/c.1047C>G|548|EHD1|protein_coding|CODING|NM_001282445.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu335Leu/c.1005C>G|534|EHD1|protein_coding|CODING|NM_006795.3|4|1)","NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,IMR90:H2BK120ac,K562:H3K27ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,NHEK:H3K4me1,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,CD4:H4K20me1,HUVEC:DNase1,IMR90:H2AK5ac,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H2BK5me1,K562:E2F6,HSMM:H3K4me1,IMR90:H3K27ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,IMR90:H4K91ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HMEC:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,CD4:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1,HeLa-S3:E2F6",,,,0.8078,0.8256,0.8797,0.78,0.59,0.88,,,,,,,,,,,,,,,,
synonymous_variant,EHD1,SILENT,NM_001282445.1:p.Ala36Ala/c.108T>C,gcT/gcC,LOW,COSM3752614(1),0.64976,0.5615,rs1211284,,,,,,chr11,64645871,64645871,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala22Ala/c.66T>C|534|EHD1|protein_coding|CODING|NM_001282444.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala36Ala/c.108T>C|548|EHD1|protein_coding|CODING|NM_001282445.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala22Ala/c.66T>C|534|EHD1|protein_coding|CODING|NM_006795.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,K562:Znf263,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,K562:NELFe,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20",,,,0.8067,0.817,0.8777,0.73,0.45,0.88,,,,,,,,,,,,,,,,
missense_variant,ATG2A,MISSENSE,NM_015104.2:p.Pro656Arg/c.1967C>G,cCg/cGg,MODERATE,COSM4146083(1),0.998602,1,rs656195,1(T),0.0(B),-1.795(N),-0.9723(T),,chr11,64677293,64677293,G,C,hom,missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro656Arg/c.1967C>G|1938|ATG2A|protein_coding|CODING|NM_015104.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,1.00,1.00,,0.000001(N),1.000(P),"3.52,3.52(T,T)",0.0000(T),0.227,-0.637930,4.67,4.67,-0.216000,1.342000,0.966000,0.879000,0.974000,0.554000,11.1516
synonymous_variant,ATG2A,SILENT,NM_015104.2:p.Asp215Asp/c.645C>T,gaC/gaT,LOW,COSM3752619(3),0.551717,0.5427,rs618006,,,,-1.0232(T),,chr11,64680819,64680819,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp215Asp/c.645C>T|1938|ATG2A|protein_coding|CODING|NM_015104.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6421,0.4697,0.7217,0.64,0.47,0.73,,,0.000(P),,0.0000(T),.,1.008019,3.97,-4.51,0.450000,-0.852000,-0.239000,0.809000,0.949000,0.713000,12.4469
missense_variant,SAC3D1,MISSENSE,NM_013299.3:p.Arg94Cys/c.280C>T,Cgc/Tgc,MODERATE,,0.395966,0.7639,rs3741390,0.23(T),0.002(B),0.41(N),-0.9966(T),,chr11,64809044,64809044,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg94Cys/c.280C>T|358|SAC3D1|protein_coding|CODING|NM_013299.3|1|1),downstream_gene_variant(MODIFIER||1000||342|SNX15|protein_coding|CODING|NM_013306.4||1),downstream_gene_variant(MODIFIER||1000||256|SNX15|protein_coding|CODING|NM_147777.3||1),downstream_gene_variant(MODIFIER||1000|||ARL2-SNX15||NON_CODING|NR_037650.1||1)","HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,K562:Znf263,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.3538,0.2406,0.2952,0.22,0.23,0.22,,0.973424(N),1.000(P),"1.57,1.57,1.57(T,T,T)",0.0000(T),0.12,1.536492,3.79,0.512,0.561000,0.372000,0.178000,0.497000,0.713000,0.001000,5.0725
missense_variant,SAC3D1,MISSENSE,NM_013299.3:p.Leu109Arg/c.326T>G,cTc/cGc,MODERATE,COSM4146087(1),0.997404,1,rs12271134,1(T),0.0(B),-2.125(N),-0.9690(T),,chr11,64809090,64809090,T,G,hom,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu109Arg/c.326T>G|358|SAC3D1|protein_coding|CODING|NM_013299.3|1|1),downstream_gene_variant(MODIFIER||1046||342|SNX15|protein_coding|CODING|NM_013306.4||1),downstream_gene_variant(MODIFIER||1046||256|SNX15|protein_coding|CODING|NM_147777.3||1),downstream_gene_variant(MODIFIER||1046|||ARL2-SNX15||NON_CODING|NR_037650.1||1)","HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,K562:Znf263,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9986,1,1.00,1.00,1.00,,0.001754(N),1.000(P),"2.06,2.06,2.06(T,T,T)",0.0000(T),0.137,0.193816,3.9,3.9,-0.217000,1.003000,3.759000,0.504000,0.924000,1.000000,10.9504
synonymous_variant,SAC3D1,SILENT,NM_013299.3:p.Ala123Ala/c.369T>G,gcT/gcG,LOW,,0.840256,0.9435,rs10792455,,,,,,chr11,64809133,64809133,T,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala123Ala/c.369T>G|358|SAC3D1|protein_coding|CODING|NM_013299.3|1|1),downstream_gene_variant(MODIFIER||1089||342|SNX15|protein_coding|CODING|NM_013306.4||1),downstream_gene_variant(MODIFIER||1089||256|SNX15|protein_coding|CODING|NM_147777.3||1),downstream_gene_variant(MODIFIER||1089|||ARL2-SNX15||NON_CODING|NR_037650.1||1)","HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,K562:Znf263,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.7239,0.8847,0.9165,0.92,0.88,0.95,,,,,,,,,,,,,,,,
missense_variant,SAC3D1,MISSENSE,NM_013299.3:p.Thr135Ala/c.403A>G,Acc/Gcc,MODERATE,,0.942692,0.9752,rs10792456,0.57(T),0.0(B),-1.1(N),-0.9756(T),,chr11,64809167,64809167,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr135Ala/c.403A>G|358|SAC3D1|protein_coding|CODING|NM_013299.3|1|1),downstream_gene_variant(MODIFIER||1123||342|SNX15|protein_coding|CODING|NM_013306.4||1),downstream_gene_variant(MODIFIER||1123||256|SNX15|protein_coding|CODING|NM_147777.3||1),downstream_gene_variant(MODIFIER||1123|||ARL2-SNX15||NON_CODING|NR_037650.1||1)","HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.9816,0.9669,0.9722,,,,,0.272688(N),1.000(P),"1.57,1.57,1.57(T,T,T)",0.0000(T),0.093,0.983554,4.05,3.04,-0.215000,1.071000,1.257000,0.453000,0.997000,1.000000,2.56
missense_variant,TMEM262,MISSENSE,NM_001282448.1:p.Trp2Arg/c.4T>C,Tgg/Cgg,MODERATE,,0.997005,1,rs525781,1(T),,,-0.9114(T),,chr11,64856500,64856500,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp2Arg/c.4T>C|114|TMEM262|protein_coding|CODING|NM_001242631.2|1|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp2Arg/c.4T>C|116|TMEM262|protein_coding|CODING|NM_001282448.1|1|1),downstream_gene_variant(MODIFIER||626||310|ZFPL1|protein_coding|CODING|NM_006782.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,,,,,,0.996(P),,0.0000(T),0.099,-1.587615,5.29,5.29,-0.215000,1.239000,0.182000,0.007000,1.000000,0.946000,10.1484
synonymous_variant,TM7SF2,SILENT,NM_003273.3:p.Pro52Pro/c.156G>C,ccG/ccC,LOW,COSM3749178(4),0.996406,1,rs4930284,,,,,,chr11,64880090,64880090,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro52Pro/c.156G>C|391|TM7SF2|protein_coding|CODING|NM_001277233.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro52Pro/c.156G>C|418|TM7SF2|protein_coding|CODING|NM_003273.3|2|1),downstream_gene_variant(MODIFIER||758||782|VPS51|protein_coding|CODING|NM_013265.3||1),downstream_gene_variant(MODIFIER||758|||VPS51||CODING|NR_073519.1||1),non_coding_exon_variant(MODIFIER|||n.318G>C||TM7SF2||CODING|NR_102367.1|2|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,K562:CTCF,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:Cmyc,K562:CTCFL,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,1,0.9986,0.999,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ZNHIT2,SILENT,NM_014205.2:p.Ala358Ala/c.1074C>T,gcC/gcT,LOW,,0.886781,0.9325,rs1546532,,,,,,chr11,64884052,64884052,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala358Ala/c.1074C>T|403|ZNHIT2|protein_coding|CODING|NM_014205.2|1|1),downstream_gene_variant(MODIFIER||345||391|TM7SF2|protein_coding|CODING|NM_001277233.1||1),downstream_gene_variant(MODIFIER||345||418|TM7SF2|protein_coding|CODING|NM_003273.3||1),downstream_gene_variant(MODIFIER||345|||TM7SF2||CODING|NR_102367.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HeLa-S3:H3K9ac,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.7434,0.9164,0.9423,0.93,0.91,0.94,,,,,,,,,,,,,,,,
synonymous_variant,CAPN1,SILENT,NM_001198868.1:p.Ile121Ile/c.363C>T,atC/atT,LOW,,0.244609,0.2966,rs17583,,,,,,chr11,64950970,64950970,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile121Ile/c.363C>T|714|CAPN1|protein_coding|CODING|NM_001198868.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile121Ile/c.363C>T|714|CAPN1|protein_coding|CODING|NM_001198869.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile121Ile/c.363C>T|714|CAPN1|protein_coding|CODING|NM_005186.3|4|1),non_coding_exon_variant(MODIFIER|||n.475C>T||CAPN1||CODING|NR_040008.1|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K36me3,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.2791,0.4035,0.3012,0.22,0.09,0.29,,,,,,,,,,,,,,,,
missense_variant,CAPN1,MISSENSE,NM_001198868.1:p.Arg433Pro/c.1298G>C,cGc/cCc,MODERATE,COSM3998536(1),0.072484,0.2044,rs10895991,0.14(T),0.979(D),1.92(M),-1.1576(T),,chr11,64972286,64972286,G,C,het,"missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg433Pro/c.1298G>C|714|CAPN1|protein_coding|CODING|NM_001198868.1|11|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg433Pro/c.1298G>C|714|CAPN1|protein_coding|CODING|NM_001198869.1|11|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg433Pro/c.1298G>C|714|CAPN1|protein_coding|CODING|NM_005186.3|11|1),non_coding_exon_variant(MODIFIER|||n.1410G>C||CAPN1||CODING|NR_040008.1|10|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27ac,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,NH-A:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.0317,0.0476,0.0835,0.06,0.02,0.08,,0.000002(D),0.000(P),"-2.35,-2.35,-2.35,-2.35,-2.35(D,D,D,D,D)",0.0035(T),0.755,4.543720,4.51,4.51,0.563000,2.232000,3.252000,0.769000,0.974000,1.000000,15.0833
synonymous_variant,SLC22A20,SILENT,NM_001004326.4:p.Thr43Thr/c.129G>C,acG/acC,LOW,COSM429595(3),0.346645,0.3929,rs239258,,,,,,chr11,64981472,64981472,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr43Thr/c.129G>C|349|SLC22A20|protein_coding|CODING|NM_001004326.4|1|1),downstream_gene_variant(MODIFIER||1995||714|CAPN1|protein_coding|CODING|NM_001198868.1||1),downstream_gene_variant(MODIFIER||1995||714|CAPN1|protein_coding|CODING|NM_001198869.1||1),downstream_gene_variant(MODIFIER||1995||714|CAPN1|protein_coding|CODING|NM_005186.3||1),downstream_gene_variant(MODIFIER||1995|||CAPN1||CODING|NR_040008.1||1),non_coding_exon_variant(MODIFIER|||n.162G>C||SLC22A20||CODING|NR_033396.1|1|1)","H1ESC:PolII,H1ESC:H3K27ac,H1ESC:H3K4me3,H1ESC:H4K5ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.2939,0.4553,0.38,0.22,0.45,,,,,,,,,,,,,,,,
missense_variant,SLC22A20,MISSENSE,NM_001004326.4:p.Ala60Asp/c.179C>A,gCc/gAc,MODERATE,COSM429597(1),0.287141,0.2629,rs11605576,,,,,,chr11,64981522,64981522,C,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala60Asp/c.179C>A|349|SLC22A20|protein_coding|CODING|NM_001004326.4|1|1),non_coding_exon_variant(MODIFIER|||n.212C>A||SLC22A20||CODING|NR_033396.1|1|1)","H1ESC:PolII,H1ESC:H3K27ac,H1ESC:H3K4me3,H1ESC:H4K5ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3221,0.4611,0.3608,0.29,0.17,0.34,,,,,,,,,,,,,,,,
missense_variant,SLC22A20,MISSENSE,NM_001004326.4:p.Glu82Lys/c.244G>A,Gag/Aag,MODERATE,COSM429599(3),0.374401,0.2629,rs11605632,,,,,,chr11,64981587,64981587,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu82Lys/c.244G>A|349|SLC22A20|protein_coding|CODING|NM_001004326.4|1|1),non_coding_exon_variant(MODIFIER|||n.277G>A||SLC22A20||CODING|NR_033396.1|1|1)","H1ESC:H3K27ac,H1ESC:H3K4me3,H1ESC:H4K5ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.5101,0.4165,0.38,0.36,0.39,,,,,,,,,,,,,,,,
missense_variant,SLC22A20,MISSENSE,NM_001004326.4:p.Ala141Val/c.422C>T,gCg/gTg,MODERATE,COSM429601(1),0.287141,0.2599,rs12420456,,,,,,chr11,64981837,64981837,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala141Val/c.422C>T|349|SLC22A20|protein_coding|CODING|NM_001004326.4|2|1),non_coding_exon_variant(MODIFIER|||n.455C>T||SLC22A20||CODING|NR_033396.1|2|1)","H1ESC:H3K27ac,H1ESC:H4K5ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.316,0.4611,0.3628,0.29,0.18,0.34,,,,,,,,,,,,,,,,
missense_variant,SLC22A20,MISSENSE,NM_001004326.4:p.Met146Ile/c.438G>T,atG/atT,MODERATE,COSM429602(4),0.297324,0.3889,rs239259,,,,,,chr11,64981853,64981853,G,T,het,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met146Ile/c.438G>T|349|SLC22A20|protein_coding|CODING|NM_001004326.4|2|1),non_coding_exon_variant(MODIFIER|||n.471G>T||SLC22A20||CODING|NR_033396.1|2|1)","H1ESC:H3K27ac,H1ESC:H4K5ac,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3",,,,0.362,0.268,0.4115,0.34,0.15,0.43,,,,,,,,,,,,,,,,
missense_variant,SLC22A20,MISSENSE,NM_001004326.4:p.Gly246Ala/c.737G>C,gGa/gCa,MODERATE,,0.572085,0.6776,rs514076,,,,,,chr11,64990041,64990041,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly246Ala/c.737G>C|349|SLC22A20|protein_coding|CODING|NM_001004326.4|4|1),non_coding_exon_variant(MODIFIER|||n.939G>C||SLC22A20||CODING|NR_033396.1|5|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6667,0.719,0.7783,0.63,0.31,0.78,,,,,,,,,,,,,,,,
missense_variant,SLC25A45,MISSENSE,NM_182556.3:p.Met224Val/c.670A>G,Atg/Gtg,MODERATE,COSM4146100(1),0.971446,1,rs624307,1(T),"0.0,0.0,0.0(B,B,B)",-2.665(N),-0.9583(T),,chr11,65144075,65144075,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met182Val/c.544A>G|246|SLC25A45|protein_coding|CODING|NM_001077241.2|6|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met200Val/c.598A>G|264|SLC25A45|protein_coding|CODING|NM_001278250.2|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met182Val/c.544A>G|246|SLC25A45|protein_coding|CODING|NM_001278251.2|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met162Val/c.484A>G|226|SLC25A45|protein_coding|CODING|NM_001300820.1|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met224Val/c.670A>G|288|SLC25A45|protein_coding|CODING|NM_182556.3|7|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,1,0.9856,1,0.97,0.92,1.00,,,0.970(P),"-0.58,-0.58,-0.58,-0.58,-0.58,-0.58,-0.58,-0.58(T,T,T,T,T,T,T,T)",0.0000(T),0.169,0.494015,4.74,4.74,-0.215000,1.380000,4.205000,0.771000,1.000000,0.999000,11.2742
synonymous_variant,FRMD8,SILENT,NM_031904.3:p.Asp113Asp/c.339C>T,gaC/gaT,LOW,,0.287939,0.2698,rs2073800,,,,,,chr11,65161129,65161129,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp57Asp/c.171C>T|408|FRMD8|protein_coding|CODING|NM_001300832.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp113Asp/c.339C>T|464|FRMD8|protein_coding|CODING|NM_031904.3|4|1),intron_variant(MODIFIER|||c.254-383C>T|430|FRMD8|protein_coding|CODING|NM_001300833.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.2911,0.5467,0.41,0.12,0.56,,,,,,,,,,,,,,,,
missense_variant,EHBP1L1,MISSENSE,NM_001099409.1:p.Val133Leu/c.397G>C,Gtg/Ctg,MODERATE,,0.9998,1,rs1194100,1(T),0.006(B),-0.695(N),-0.9418(T),,chr11,65347636,65347636,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val133Leu/c.397G>C|1523|EHBP1L1|protein_coding|CODING|NM_001099409.1|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.002558(N),0.000(P),"0.93,0.93(T,T)",0.0000(T),0.073,-0.749226,5.32,4.39,-0.225000,0.600000,0.367000,0.115000,0.588000,0.110000,6.8578
missense_variant,EHBP1L1,MISSENSE,NM_001099409.1:p.Arg307Gln/c.920G>A,cGg/cAg,MODERATE,,0.459864,0.4504,rs3741380,0.08(T),0.007(B),0.695(N),-1.0198(T),,chr11,65349063,65349063,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg307Gln/c.920G>A|1523|EHBP1L1|protein_coding|CODING|NM_001099409.1|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5051,0.3876,0.4881,0.46,0.45,0.46,,0.575772(N),0.322(P),"-0.15,-1.49(T,T)",0.0000(T),0.039,1.537701,4.66,-3.82,-2.163000,-0.401000,0.141000,0.039000,0.783000,0.961000,5.5934
missense_variant,EHBP1L1,MISSENSE,NM_001099409.1:p.Val538Gly/c.1613T>G,gTg/gGg,MODERATE,,0.425919,0.4514,rs6591182,0(D),0.63(P),1.1(L),-0.9162(T),,chr11,65349756,65349756,T,G,het,missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val538Gly/c.1613T>G|1523|EHBP1L1|protein_coding|CODING|NM_001099409.1|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Non_alcoholic_fatty_liver_disease_histology_lobular,,,0.5082,0.3775,0.506,0.42,0.32,0.47,,0.000510(D),0.000(P),-0.73(T),0.0000(T),0.219,3.184620,5.03,3.82,0.459000,1.890000,0.116000,0.709000,1.000000,0.995000,8.8901
missense_variant,EHBP1L1,MISSENSE,NM_001099409.1:p.Asp569Val/c.1706A>T,gAc/gTc,MODERATE,,0.94369,0.9921,rs1194099,1(T),0.0(B),-0.625(N),-0.9601(T),,chr11,65349849,65349849,A,T,hom,missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp569Val/c.1706A>T|1523|EHBP1L1|protein_coding|CODING|NM_001099409.1|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9798,0.998,0.95,0.85,1.00,,0.344472(N),1.000(P),0.55(T),0.0000(T),0.04,-1.137344,5.16,-0.383,-0.257000,0.010000,-1.072000,0.003000,0.002000,0.000000,1.3833
synonymous_variant,EHBP1L1,SILENT,NM_001099409.1:p.Ala977Ala/c.2931G>A,gcG/gcA,LOW,COSM3752626(2),0.277756,0.4504,rs10896018,,,,-0.9084(T),,chr11,65351074,65351074,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala977Ala/c.2931G>A|1523|EHBP1L1|protein_coding|CODING|NM_001099409.1|9|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2751,0.4524,0.2654,0.23,0.10,0.29,,,1.000(P),,0.0000(T),.,0.124677,5.41,1.59,-0.436000,0.017000,0.223000,0.571000,0.994000,0.002000,6.7906
synonymous_variant,MAP3K11,SILENT,NM_002419.3:p.Gly104Gly/c.312C>T,ggC/ggT,LOW,COSM3998538(2),0.354433,0.3244,rs2004649,,,,,,chr11,65380916,65380916,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly104Gly/c.312C>T|847|MAP3K11|protein_coding|CODING|NM_002419.3|1|1),"H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,GM12878:H3K79me2,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6585,0.2925,0.4404,0.35,0.19,0.43,,,,,,,,,,,,,,,,
synonymous_variant,PCNXL3,SILENT,NM_032223.3:p.Val38Val/c.114G>C,gtG/gtC,LOW,,1,1,rs7947140,,,,,,chr11,65383896,65383896,G,C,hom,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val38Val/c.114G>C|2034|PCNXL3|protein_coding|CODING|NM_032223.3|1|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,CD4:H4K20me1,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K4me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,PCNXL3,MISSENSE,NM_032223.3:p.Gln258Arg/c.773A>G,cAg/cGg,MODERATE,,0.996206,1,rs1151489,0.7(T),0.0(B),0(N),-1.0065(T),,chr11,65385606,65385606,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln258Arg/c.773A>G|2034|PCNXL3|protein_coding|CODING|NM_032223.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.666421(N),1.000(P),3.34(T),0.0000(T),0.01,-0.813945,5.11,3.04,-0.810000,0.553000,2.698000,0.890000,0.943000,0.960000,5.4094
synonymous_variant,PCNXL3,SILENT,NM_032223.3:p.Ala661Ala/c.1983T>A,gcT/gcA,LOW,COSM4146108(1),0.411741,0.4355,rs61744384,,,,,,chr11,65387378,65387378,T,A,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala661Ala/c.1983T>A|2034|PCNXL3|protein_coding|CODING|NM_032223.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6708,0.3228,0.4672,0.37,0.24,0.44,,,,,,,,,,,,,,,,
synonymous_variant,SIPA1,SILENT,NM_006747.3:p.Ala342Ala/c.1026G>A,gcG/gcA,LOW,,0.353435,0.251,rs2306364,,,,,,chr11,65412467,65412467,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala342Ala/c.1026G>A|1042|SIPA1|protein_coding|CODING|NM_006747.3|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala342Ala/c.1026G>A|1042|SIPA1|protein_coding|CODING|NM_153253.29|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4703,0.2579,0.4364,0.39,0.34,0.42,,,,,,,,,,,,,,,,
synonymous_variant,SIPA1,SILENT,NM_006747.3:p.Thr735Thr/c.2205T>G,acT/acG,LOW,COSM4146121(3),0.996406,1,rs4930157,,,,,,chr11,65415028,65415028,T,G,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr735Thr/c.2205T>G|1042|SIPA1|protein_coding|CODING|NM_006747.3|9|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr735Thr/c.2205T>G|1042|SIPA1|protein_coding|CODING|NM_153253.29|9|1),upstream_gene_variant(MODIFIER||1635|||MIR4489||NON_CODING|NR_039709.1||1)","HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SIPA1,SILENT,NM_006747.3:p.Ala920Ala/c.2760G>A,gcG/gcA,LOW,COSM4146123(1),0.236422,0.2123,rs746429,,,,,,chr11,65417434,65417434,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala920Ala/c.2760G>A|1042|SIPA1|protein_coding|CODING|NM_006747.3|13|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala920Ala/c.2760G>A|1042|SIPA1|protein_coding|CODING|NM_153253.29|13|1),downstream_gene_variant(MODIFIER||710|||MIR4489||NON_CODING|NR_039709.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.1974,0.3569,0.30,0.19,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CFL1,SILENT,NM_005507.2:p.Asp66Asp/c.198C>T,gaC/gaT,LOW,COSM3752634(1),0.427915,0.3313,rs4621,,,,,,chr11,65623519,65623519,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp66Asp/c.198C>T|166|CFL1|protein_coding|CODING|NM_005507.2|2|1),"H1ESC:H3K36me3,K562:PolII,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,K562:H3K79me2,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,NHEK:DNase1,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.6022,0.4063,0.668,0.53,0.26,0.67,,,,,,,,,,,,,,,,
missense_variant,MUS81,MISSENSE,NM_025128.4:p.Arg37His/c.110G>A,cGc/cAc,MODERATE,COSM3752635(3),0.427915,0.3323,rs13817,0.12(T),0.813(P),1.905(M),-0.9482(T),,chr11,65628334,65628334,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg37His/c.110G>A|551|MUS81|protein_coding|CODING|NM_025128.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,K562:Gabp,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.6022,0.4063,0.667,0.55,0.30,0.68,,0.000913(D),0.000(P),"0.84,0.84(T,T)",0.0000(T),0.216,3.349232,5.39,3.44,0.491000,1.277000,0.876000,0.211000,1.000000,0.981000,6.7869
synonymous_variant,MUS81,SILENT,NM_025128.4:p.Ala179Ala/c.537T>C,gcT/gcC,LOW,COSM3931404(2),0.428115,0.3323,rs659857,,,,-0.9656(T),,chr11,65629932,65629932,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala179Ala/c.537T>C|551|MUS81|protein_coding|CODING|NM_025128.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.4063,0.668,0.52,0.25,0.66,,,1.000(P),,0.0000(T),.,1.967880,5.29,-0.966,0.459000,0.033000,-0.653000,0.804000,0.000000,0.000000,0.8643
missense_variant,MUS81,MISSENSE,NM_025128.4:p.Arg180Pro/c.539G>C,cGa/cCa,MODERATE,COSM3752638(3),0.428115,0.3323,rs545500,0.25(T),0.098(B),1.39(L),-0.9734(T),,chr11,65629934,65629934,G,C,het,missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg180Pro/c.539G>C|551|MUS81|protein_coding|CODING|NM_025128.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.4063,0.668,0.53,0.26,0.66,,0.272492(N),1.000(P),"2.47,2.7,1.92(T,T,T)",0.0000(T),0.434,2.746351,5.29,-1.98,-0.291000,-0.236000,-0.071000,0.810000,0.000000,0.000000,10.1301
synonymous_variant,MUS81,SILENT,NM_025128.4:p.Ala312Ala/c.936C>T,gcC/gcT,LOW,COSM3752640(2),0.428115,0.3323,rs648732,,,,-0.9700(T),,chr11,65631167,65631167,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala312Ala/c.936C>T|551|MUS81|protein_coding|CODING|NM_025128.4|9|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.4063,0.668,0.53,0.26,0.67,,,0.000(P),,0.0000(T),.,-0.595788,5.53,-11.1,-1.095000,-2.125000,-1.084000,0.053000,0.502000,0.042000,1.7302
missense_variant,MUS81,MISSENSE,NM_025128.4:p.Arg350Trp/c.1048C>T,Cgg/Tgg,MODERATE,COSM3752641(1),0.0123802,0,rs34891773,,,1.405(L),-1.1392(T),,chr11,65631361,65631361,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg350Trp/c.1048C>T|551|MUS81|protein_coding|CODING|NM_025128.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0159,0.0239,0.02,0.01,0.03,,,1.000(D),,0.0410(T),.,4.513249,5.8,4.89,0.655000,1.453000,2.194000,0.971000,0.990000,1.000000,12.8651
synonymous_variant,MUS81,SILENT,NM_025128.4:p.Arg355Arg/c.1065G>A,cgG/cgA,LOW,COSM1179750(2),0.429912,0.3323,rs630303,,,,-0.9427(T),,chr11,65631973,65631973,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg355Arg/c.1065G>A|551|MUS81|protein_coding|CODING|NM_025128.4|11|1),downstream_gene_variant(MODIFIER||1939||443|EFEMP2|protein_coding|CODING|NM_016938.4||1),downstream_gene_variant(MODIFIER||1939|||EFEMP2||CODING|NR_037718.1||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.4063,0.668,0.53,0.26,0.67,,,0.000(P),,0.0000(T),.,-0.321494,5.91,-0.587,-2.590000,-0.290000,-0.241000,0.375000,0.720000,0.706000,9.8829
synonymous_variant,MUS81,SILENT,NM_025128.4:p.Thr416Thr/c.1248G>T,acG/acT,LOW,,0.428315,0.3323,rs558114,,,,-1.0509(T),,chr11,65632262,65632262,G,T,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr416Thr/c.1248G>T|551|MUS81|protein_coding|CODING|NM_025128.4|12|1),downstream_gene_variant(MODIFIER||1650||443|EFEMP2|protein_coding|CODING|NM_016938.4||1),downstream_gene_variant(MODIFIER||1650|||EFEMP2||CODING|NR_037718.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.4063,0.668,0.53,0.26,0.67,,,0.000(P),,0.0000(T),.,0.221105,5.92,-11.8,-1.433000,-4.580000,-7.397000,0.776000,0.000000,0.000000,4.1591
missense_variant,EFEMP2,MISSENSE,NM_016938.4:p.Ile259Val/c.775A>G,Atc/Gtc,MODERATE,,0.894569,1,rs601314,1(T),"0.001,0.001(B,B)",-0.515(N),-0.9454(T),,chr11,65636053,65636053,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile259Val/c.775A>G|443|EFEMP2|protein_coding|CODING|NM_016938.4|8|1),non_coding_exon_variant(MODIFIER|||n.1034A>G||EFEMP2||CODING|NR_037718.1|8|1)","K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000032273.1,,0.999,0.9597,0.997,0.89,0.69,1.00,,0.018067(N),1.000(P),"-1.1,-2.19(T,D)",0.0000(T),0.045,-0.105741,5.2,1.9,-1.319000,0.610000,0.543000,0.837000,0.998000,0.073000,3.6029
synonymous_variant,EFEMP2,SILENT,NM_016938.4:p.His92His/c.276C>T,caC/caT,LOW,COSM3752644(1),0.321086,0.2262,rs633800,,,,,,chr11,65638719,65638719,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His92His/c.276C>T|443|EFEMP2|protein_coding|CODING|NM_016938.4|4|1),non_coding_exon_variant(MODIFIER|||n.535C>T||EFEMP2||CODING|NR_037718.1|4|1)","K562:PolII,HUVEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K27me3,GM06990:DNase1",,,,0.5429,0.3127,0.503,0.40,0.16,0.52,,,,,,,,,,,,,,,,
missense_variant,CTSW,MISSENSE,NM_001335.3:p.Ser139Gly/c.415A>G,Agc/Ggc,MODERATE,,0.927316,1,rs604630,1(T),"0.0,0.0(B,B)",-2.355(N),-0.9302(T),,chr11,65649774,65649774,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser139Gly/c.415A>G|376|CTSW|protein_coding|CODING|NM_001335.3|4|1),downstream_gene_variant(MODIFIER||1437||357|FIBP|protein_coding|CODING|NM_004214.4||1),downstream_gene_variant(MODIFIER||1437||364|FIBP|protein_coding|CODING|NM_198897.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.964,0.998,0.93,0.81,1.00,,0.530403(N),1.000(P),"1.93,1.93,1.93(T,T,T)",0.0000(T),0.209,-1.431803,3.98,-1.7,-0.766000,-0.592000,-0.760000,0.000000,0.000000,0.000000,1.0707
synonymous_variant,CTSW,SILENT,NM_001335.3:p.Asp175Asp/c.525T>C,gaT/gaC,LOW,COSM3752645(2),0.696685,0.5903,rs687672,,,,,,chr11,65649984,65649984,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp175Asp/c.525T>C|376|CTSW|protein_coding|CODING|NM_001335.3|5|1),downstream_gene_variant(MODIFIER||1227||357|FIBP|protein_coding|CODING|NM_004214.4||1),downstream_gene_variant(MODIFIER||1227||364|FIBP|protein_coding|CODING|NM_198897.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8998,0.7839,0.8111,0.72,0.57,0.81,,,,,,,,,,,,,,,,
synonymous_variant,CTSW,SILENT,NM_001335.3:p.Gln336Gln/c.1008A>G,caA/caG,LOW,COSM3752647(1),0.0177716,0,rs35841983,,,,,,chr11,65650883,65650883,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln336Gln/c.1008A>G|376|CTSW|protein_coding|CODING|NM_001335.3|9|1),downstream_gene_variant(MODIFIER||328||357|FIBP|protein_coding|CODING|NM_004214.4||1),downstream_gene_variant(MODIFIER||328||364|FIBP|protein_coding|CODING|NM_198897.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0159,0.0229,0.03,0.03,0.03,,,,,,,,,,,,,,,,
missense_variant,C11orf68,MISSENSE,NM_001135635.1:p.Gln196Arg/c.587A>G,cAg/cGg,MODERATE,,0.897764,1,rs7947504,0.95(T),"0.001,0.001(B,B)",0.46(N),-0.8893(T),,chr11,65685225,65685225,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln195Arg/c.584A>G|292|C11orf68|protein_coding|CODING|NM_031450.3|2|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln196Arg/c.587A>G|293|C11orf68|protein_coding|CODING|NM_001135635.1|2|1),upstream_gene_variant(MODIFIER||1503||205|DRAP1|protein_coding|CODING|NM_006442.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K4me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.9908,0.951,0.9821,0.89,0.69,0.98,,0.025864(N),1.000(P),"1.02,1.02,1.02(T,T,T)",0.0000(T),0.003,-0.815977,4.72,-6.16,-2.825000,-1.672000,-0.625000,0.541000,0.315000,0.005000,15.7112
stop_lost,TSGA10IP,MISSENSE,NM_152762.2:p.Ter21Argext*?/c.61T>C,Tga/Cga,HIGH,,0.999401,1,rs9795469,,,,,,chr11,65713207,65713207,T,C,hom,stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter21Argext*?/c.61T>C|556|TSGA10IP|protein_coding|CODING|NM_152762.2|1|1),"H1ESC:PolII,H1ESC:H3K4me2,H1ESC:SP1,H1ESC:DNase1,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SART1,SILENT,NM_005146.4:p.Thr258Thr/c.774C>T,acC/acT,LOW,COSM429623(1),0.376398,0.2183,rs688862,,,,,,chr11,65733393,65733393,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr258Thr/c.774C>T|800|SART1|protein_coding|CODING|NM_005146.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5634,0.3228,0.5278,0.45,0.31,0.52,,,,,,,,,,,,,,,,
missense_variant,CATSPER1,MISSENSE,NM_053054.3:p.Val652Ile/c.1954G>A,Gta/Ata,MODERATE,,0.936502,0.8859,rs3814747,0.76(T),0.02(B),0.435(N),-0.9405(T),,chr11,65788072,65788072,C,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val652Ile/c.1954G>A|780|CATSPER1|protein_coding|CODING|NM_053054.3|7|1),"H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9969,0.9755,1,0.96,0.89,1.00,,0.159988(N),1.000(P),-5.0(D),0.0000(T),0.08,1.402778,4.7,3.54,-0.361000,0.288000,1.350000,0.788000,0.996000,1.000000,6.5338
synonymous_variant,CATSPER1,SILENT,NM_053054.3:p.Arg408Arg/c.1222C>A,Cgg/Agg,LOW,COSM3752652(1),0.431909,0.377,rs2845570,,,,,,chr11,65790527,65790527,G,T,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg408Arg/c.1222C>A|780|CATSPER1|protein_coding|CODING|NM_053054.3|2|1),"NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K27me3,K562:H2AZ,K562:DNase1",,,,0.7147,0.3847,0.5616,0.45,0.24,0.56,,,,,,,,,,,,,,,,
synonymous_variant,GAL3ST3,SILENT,NM_033036.2:p.Pro355Pro/c.1065G>A,ccG/ccA,LOW,COSM3749181(13),0.751398,0.7649,rs61895584,,,,,,chr11,65810209,65810209,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro355Pro/c.1065G>A|431|GAL3ST3|protein_coding|CODING|NM_033036.2|3|1),"H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8282,0.8746,0.8549,0.86,0.72,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GAL3ST3,SILENT,NM_033036.2:p.Val175Val/c.525A>G,gtA/gtG,LOW,COSM3749182(4),0.935903,0.881,rs7937692,,,,,,chr11,65810749,65810749,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val175Val/c.525A>G|431|GAL3ST3|protein_coding|CODING|NM_033036.2|3|1),"H1ESC:H3K36me3,IMR90:H3K27me3",,,,0.9969,0.9769,1,0.96,0.89,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KLC2,SILENT,NM_001134775.1:p.Asp362Asp/c.1086C>T,gaC/gaT,LOW,COSM3765586(2),0.332268,0.252,rs1151539,,,,,,chr11,66031660,66031660,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp285Asp/c.855C>T|545|KLC2|protein_coding|CODING|NM_001134774.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp362Asp/c.1086C>T|622|KLC2|protein_coding|CODING|NM_001134775.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp362Asp/c.1086C>T|622|KLC2|protein_coding|CODING|NM_001134776.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp362Asp/c.1086C>T|622|KLC2|protein_coding|CODING|NM_022822.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.5086,0.4841,0.39,0.25,0.46,,,,,,,,,,,,,,,,
missense_variant,YIF1A,MISSENSE,NM_020470.2:p.Pro37Leu/c.110C>T,cCc/cTc,MODERATE,,0.0139776,0,rs11544832,0.6(T),"0.004,0.0(B,B)",-0.345(N),-1.0711(T),,chr11,66055685,66055685,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro37Leu/c.110C>T|241|YIF1A|protein_coding|CODING|NM_001300861.1|2|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro37Leu/c.110C>T|293|YIF1A|protein_coding|CODING|NM_020470.2|2|1)","K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:H3K36me3,HSMM:H3K4me2,IMR90:H3K4me2,HeLa-S3:H3K4me2,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.0082,0.0159,0.0487,0.03,0.01,0.04,,0.000451(N),1.000(N),"0.84,0.86,0.86,0.85(T,T,T,T)",0.0074(T),0.351,2.308485,5.96,2.39,0.655000,0.602000,2.505000,0.959000,0.603000,0.272000,1.5073
synonymous_variant,TMEM151A,SILENT,NM_153266.3:p.Pro102Pro/c.306G>A,ccG/ccA,LOW,,0.0235623,0,rs34837704,,,,,,chr11,66062023,66062023,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro102Pro/c.306G>A|468|TMEM151A|protein_coding|CODING|NM_153266.3|2|1),"HUVEC:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0276,0.0274,0.0696,0.05,0.02,0.07,,,,,,,,,,,,,,,,
missense_variant,CD248,MISSENSE,NM_020404.2:p.His457Arg/c.1370A>G,cAt/cGt,MODERATE,COSM3752657(2),0.292133,0.2093,rs3741367,1(T),0.0(B),-0.46(N),-0.9927(T),,chr11,66083129,66083129,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His457Arg/c.1370A>G|757|CD248|protein_coding|CODING|NM_020404.2|1|1),"HUVEC:H3K27me3,IMR90:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K27me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.2014,0.5476,0.4433,0.38,0.23,0.45,,0.146424(N),1.000(P),-1.93(D),0.0000(T),0.044,-2.985667,4.45,1.57,-0.996000,0.252000,-0.028000,0.032000,0.035000,0.014000,6.6263
synonymous_variant,CD248,SILENT,NM_020404.2:p.Asn239Asn/c.717C>T,aaC/aaT,LOW,COSM429643(3),0.255391,0.2272,rs3741368,,,,,,chr11,66083782,66083782,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn239Asn/c.717C>T|757|CD248|protein_coding|CODING|NM_020404.2|1|1),"HUVEC:H3K27me3,IMR90:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,K562:USF1,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K27me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.1871,0.5303,0.4463,0.33,0.10,0.45,,,,,,,,,,,,,,,,
synonymous_variant,RIN1,SILENT,NM_004292.2:p.Ala704Ala/c.2112G>A,gcG/gcA,LOW,COSM3752658(1),0.560703,0.5595,rs1784029,,,,,,chr11,66099987,66099987,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala704Ala/c.2112G>A|783|RIN1|protein_coding|CODING|NM_004292.2|10|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7945,0.7334,0.662,0.56,0.29,0.69,,,,,,,,,,,,,,,,
synonymous_variant,RIN1,SILENT,NM_004292.2:p.Glu649Glu/c.1947A>G,gaA/gaG,LOW,COSM4146153(1),0.967452,1,rs1784030,,,,,,chr11,66100152,66100152,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu649Glu/c.1947A>G|783|RIN1|protein_coding|CODING|NM_004292.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,0.9856,0.998,0.97,0.91,1.00,,,,,,,,,,,,,,,,
missense_variant,RIN1,MISSENSE,NM_004292.2:p.Arg238Gln/c.713G>A,cGg/cAg,MODERATE,,0.0141773,0,rs117873455,0.37(T),"0.559,0.012(P,B)",1.735(L),-1.0649(T),,chr11,66102557,66102557,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg238Gln/c.713G>A|783|RIN1|protein_coding|CODING|NM_004292.2|6|1),"NHEK:H3K9ac,H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HMEC:H3K4me3",,,,0.0102,0.0173,0.0467,0.03,0.01,0.04,,0.001249(N),0.554(D),"3.01,2.89,2.45(T,T,T)",0.0096(T),0.269,3.739642,4.43,4.43,0.462000,2.183000,5.977000,0.978000,0.994000,0.958000,12.9046
missense_variant,RIN1,MISSENSE,NM_004292.2:p.Ala79Thr/c.235G>A,Gca/Aca,MODERATE,,0.0183706,0,rs140145986,,0.981(D),3.045(M),-0.8289(T),,chr11,66103481,66103481,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala79Thr/c.235G>A|783|RIN1|protein_coding|CODING|NM_004292.2|2|1),downstream_gene_variant(MODIFIER||1323||290|BRMS1|protein_coding|CODING|NM_001024957.1||1),downstream_gene_variant(MODIFIER||1323||246|BRMS1|protein_coding|CODING|NM_015399.3||1)","NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0133,0.0231,0.0606,0.03,0.01,0.05,,0.000313(D),1.000(D),0.91(T),0.0344(T),0.219,2.442397,3.45,3.45,0.462000,1.952000,3.662000,0.024000,0.022000,0.986000,10.5964
missense_variant,BRMS1,MISSENSE,NM_001024957.1:p.Ala273Val/c.818C>T,gCc/gTc,MODERATE,COSM3720988(2),0.266773,0.3284,rs1052566,0.29(T),0.0(B),-1.1(N),-0.9304(T),,chr11,66105194,66105194,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala273Val/c.818C>T|290|BRMS1|protein_coding|CODING|NM_001024957.1|10|1),3_prime_UTR_variant(MODIFIER||159|c.*159C>T|246|BRMS1|protein_coding|CODING|NM_015399.3|10|1),upstream_gene_variant(MODIFIER||1194||783|RIN1|protein_coding|CODING|NM_004292.2||1)","NHEK:H3K27ac,H1ESC:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.2161,0.2714,0.22,0.08,0.30,,,1.000(P),,0.0000(T),0.151,-0.491122,2.79,-4.24,0.400000,-0.973000,-0.952000,0.317000,0.000000,0.001000,4.6989
synonymous_variant,BRMS1,SILENT,NM_001024957.1:p.Asp182Asp/c.546T>C,gaT/gaC,LOW,,0.966853,1,rs1784035,,,,,,chr11,66107674,66107674,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp182Asp/c.546T>C|290|BRMS1|protein_coding|CODING|NM_001024957.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp182Asp/c.546T>C|246|BRMS1|protein_coding|CODING|NM_015399.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9827,0.998,0.97,0.91,1.00,,,0.000(P),,,.,-0.070122,5.02,1.47,-1.212000,-0.241000,0.064000,0.433000,0.996000,0.989000,8.797
synonymous_variant,BRMS1,SILENT,NM_001024957.1:p.Leu67Leu/c.201A>G,ctA/ctG,LOW,COSM3752660(1),0.140775,0.0327,rs11537993,,,,-0.9779(T),,chr11,66109033,66109033,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu67Leu/c.201A>G|290|BRMS1|protein_coding|CODING|NM_001024957.1|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu67Leu/c.201A>G|246|BRMS1|protein_coding|CODING|NM_015399.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1963,0.17,0.329,0.24,0.07,0.33,,,0.000(P),,0.0000(T),.,0.916870,4.44,2.55,-0.242000,0.608000,1.938000,0.753000,1.000000,1.000000,8.2431
synonymous_variant,NPAS4,SILENT,NM_178864.3:p.Leu37Leu/c.111G>T,ctG/ctT,LOW,,0.169728,0.1696,rs77600363,,,,,,chr11,66188761,66188761,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu37Leu/c.111G>T|802|NPAS4|protein_coding|CODING|NM_178864.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:Nrsf,IMR90:H3K27me3,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.1636,0.3963,0.2157,0.16,0.05,0.22,,,,,,,,,,,,,,,,
synonymous_variant,PELI3,SILENT,NM_145065.2:p.Asp209Asp/c.627T>C,gaT/gaC,LOW,,0.264976,0.2877,rs2277302,,,,,,chr11,66240882,66240882,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp185Asp/c.555T>C|445|PELI3|protein_coding|CODING|NM_001098510.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp146Asp/c.438T>C|406|PELI3|protein_coding|CODING|NM_001243135.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp102Asp/c.306T>C|362|PELI3|protein_coding|CODING|NM_001243136.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp209Asp/c.627T>C|469|PELI3|protein_coding|CODING|NM_145065.2|6|1),downstream_gene_variant(MODIFIER||79|||LOC101928069||NON_CODING|NR_120586.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.1801,0.2425,0.27,0.33,0.23,,,,,,,,,,,,,,,,
missense_variant,DPP3,MISSENSE,NM_005700.4:p.Gln145His/c.435G>T,caG/caT,MODERATE,COSM147273(4),0.216254,0.2887,rs11550299,0.14(T),"0.011,0.006(B,B)",0.625(N),-0.9997(T),,chr11,66254085,66254085,G,T,het,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln115His/c.345G>T|707|DPP3|protein_coding|CODING|NM_001256670.1|3|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln145His/c.435G>T|737|DPP3|protein_coding|CODING|NM_005700.4|4|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln145His/c.435G>T|737|DPP3|protein_coding|CODING|NM_130443.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.1599,0.2416,0.21,0.17,0.23,,0.022209(N),0.840(P),"1.93,1.93,1.93,1.93,1.93,1.93,1.93,1.93,1.93,1.93(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.493,1.346721,5.02,4.04,0.561000,2.323000,0.497000,0.358000,1.000000,0.923000,6.2999
synonymous_variant,DPP3,SILENT,NM_005700.4:p.Thr646Thr/c.1938A>G,acA/acG,LOW,,0.615016,0.5486,rs1671063,,,,,,chr11,66272142,66272142,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr616Thr/c.1848A>G|707|DPP3|protein_coding|CODING|NM_001256670.1|16|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr646Thr/c.1938A>G|737|DPP3|protein_coding|CODING|NM_005700.4|17|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr646Thr/c.1938A>G|737|DPP3|protein_coding|CODING|NM_130443.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3978,0.4496,0.6113,0.68,0.85,0.59,,,,,,,,,,,,,,,,
missense_variant,DPP3,MISSENSE,NM_005700.4:p.Arg678His/c.2033G>A,cGc/cAc,MODERATE,COSM3998543(1),0.211661,0.3036,rs2305535,1(T),"0.003,0.003(B,B)",1.01(L),-1.0063(T),,chr11,66272237,66272237,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg648His/c.1943G>A|707|DPP3|protein_coding|CODING|NM_001256670.1|16|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg678His/c.2033G>A|737|DPP3|protein_coding|CODING|NM_005700.4|17|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg678His/c.2033G>A|737|DPP3|protein_coding|CODING|NM_130443.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2106,0.1614,0.2396,0.20,0.13,0.23,,0.018250(N),1.000(P),"1.93,1.93,1.93,1.93,1.93,1.93(T,T,T,T,T,T)",0.0000(T),0.489,0.990693,5.43,4.52,0.549000,1.350000,2.248000,0.979000,0.996000,0.996000,12.1029
synonymous_variant,BBS1,SILENT,NM_024649.4:p.Leu126Leu/c.378G>A,ctG/ctA,LOW,COSM147274(2),0.211661,0.3036,rs2298806,1(T),,,-1.0887(T),,chr11,66282095,66282095,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu126Leu/c.378G>A|593|BBS1|protein_coding|CODING|NM_024649.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2106,0.1614,0.2396,0.20,0.13,0.23,,,0.000(P),-2.04(D),0.0000(T),.,0.825914,5.09,2.16,-0.261000,0.261000,1.113000,0.938000,0.966000,1.000000,4.6187
synonymous_variant,BBS1,SILENT,NM_024649.4:p.Leu471Leu/c.1413C>T,ctC/ctT,LOW,COSM3752663(2),0.143371,0.1548,rs3816492,,,,,,chr11,66297363,66297363,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu471Leu/c.1413C>T|593|BBS1|protein_coding|CODING|NM_024649.4|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.1441,0.2396,0.17,0.05,0.23,,,,,,,,,,,,,,,,
missense_variant,ZDHHC24,MISSENSE,NM_207340.1:p.Gln91Arg/c.272A>G,cAg/cGg,MODERATE,COSM3752666(1),0.227835,0.3165,rs2305534,0.66(T),"0.103,0.425(B,B)",0.41(N),-1.0228(T),,chr11,66313203,66313203,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln91Arg/c.272A>G|284|ZDHHC24|protein_coding|CODING|NM_207340.1|1|1),upstream_gene_variant(MODIFIER||663||944|ACTN3|protein_coding|CODING|NM_001258371.2||1),upstream_gene_variant(MODIFIER||1109||901|ACTN3|protein_coding|CODING|NM_001104.3||1),upstream_gene_variant(MODIFIER||1109|||ACTN3||CODING|NR_047663.2||1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.2157,0.17,0.2416,0.17,0.13,0.18,,0.000085(N),0.003(P),"0.27,0.92(T,T)",0.0000(T),0.066,2.941012,4.94,2.62,0.379000,0.850000,1.694000,0.991000,1.000000,1.000000,5.8623
missense_variant,ACTN3,MISSENSE,NM_001258371.2:p.Arg566Gln/c.1697G>A,cGg/cAg,MODERATE,,0.586462,0.5565,rs1671064,,,,,,chr11,66327673,66327673,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg523Gln/c.1568G>A|901|ACTN3|protein_coding|CODING|NM_001104.3|14|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg566Gln/c.1697G>A|944|ACTN3|protein_coding|CODING|NM_001258371.2|14|1),non_coding_exon_variant(MODIFIER|||n.1665G>A||ACTN3||CODING|NR_047663.2|14|1)","H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4131,0.4193,0.5606,0.63,0.79,0.55,,,,,,,,,,,,,,,,
synonymous_variant,ACTN3,SILENT,NM_001258371.2:p.Thr606Thr/c.1818A>G,acA/acG,LOW,,0.16274,0.1815,rs2229455,,,,,,chr11,66328055,66328055,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr563Thr/c.1689A>G|901|ACTN3|protein_coding|CODING|NM_001104.3|15|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr606Thr/c.1818A>G|944|ACTN3|protein_coding|CODING|NM_001258371.2|15|1),non_coding_exon_variant(MODIFIER|||n.1786A>G||ACTN3||CODING|NR_047663.2|15|1)","H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1667,0.1023,0.168,0.16,0.14,0.17,,,,,,,,,,,,,,,,
stop_lost,ACTN3,MISSENSE,NM_001258371.2:p.Ter620Argext*?/c.1858T>C,Tga/Cga,HIGH,,0.599241,0.5565,rs1815739,,,,,,chr11,66328095,66328095,T,C,het,"stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter577Argext*?/c.1729T>C|901|ACTN3|protein_coding|CODING|NM_001104.3|15|1),stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter620Argext*?/c.1858T>C|944|ACTN3|protein_coding|CODING|NM_001258371.2|15|1),non_coding_exon_variant(MODIFIER|||n.1826T>C||ACTN3||CODING|NR_047663.2|15|1)","H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000019974.1|RCV000019975.26|RCV000019976.27,,0.4131,0.428,0.5656,0.64,0.82,0.55,,,,,,,,,,,,,,,,
missense_variant,ACTN3,MISSENSE,NM_001258371.2:p.Cys671Arg/c.2011T>C,Tgt/Cgt,MODERATE,,0.60024,0.5546,rs618838,,,,,,chr11,66328719,66328719,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys628Arg/c.1882T>C|901|ACTN3|protein_coding|CODING|NM_001104.3|16|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys671Arg/c.2011T>C|944|ACTN3|protein_coding|CODING|NM_001258371.2|16|1),non_coding_exon_variant(MODIFIER|||n.1979T>C||ACTN3||CODING|NR_047663.2|16|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4131,0.4222,0.5626,0.64,0.82,0.55,,,,,,,,,,,,,,,,
missense_variant,ACTN3,MISSENSE,NM_001258371.2:p.Glu678Ala/c.2033A>C,gAg/gCg,MODERATE,,0.16274,0.1815,rs2229456,,,,,,chr11,66328741,66328741,A,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu635Ala/c.1904A>C|901|ACTN3|protein_coding|CODING|NM_001104.3|16|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu678Ala/c.2033A>C|944|ACTN3|protein_coding|CODING|NM_001258371.2|16|1),non_coding_exon_variant(MODIFIER|||n.2001A>C||ACTN3||CODING|NR_047663.2|16|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1677,0.1052,0.169,0.16,0.13,0.17,,,,,,,,,,,,,,,,
missense_variant,ACTN3,MISSENSE,NM_001258371.2:p.Gln819Arg/c.2456A>G,cAg/cGg,MODERATE,,0.583067,0.5565,rs540874,,,,,,chr11,66329732,66329732,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln776Arg/c.2327A>G|901|ACTN3|protein_coding|CODING|NM_001104.3|19|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln819Arg/c.2456A>G|944|ACTN3|protein_coding|CODING|NM_001258371.2|19|1),downstream_gene_variant(MODIFIER||1203||484|CTSF|protein_coding|CODING|NM_003793.3||1),non_coding_exon_variant(MODIFIER|||n.2424A>G||ACTN3||CODING|NR_047663.2|19|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4131,0.4179,0.5636,0.63,0.79,0.55,,,,,,,,,,,,,,,,
synonymous_variant,CTSF,SILENT,NM_003793.3:p.Arg467Arg/c.1401T>C,cgT/cgC,LOW,,0.589058,0.5536,rs572846,,,,,,chr11,66331458,66331458,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg467Arg/c.1401T>C|484|CTSF|protein_coding|CODING|NM_003793.3|13|1),downstream_gene_variant(MODIFIER||658||901|ACTN3|protein_coding|CODING|NM_001104.3||1),downstream_gene_variant(MODIFIER||658||944|ACTN3|protein_coding|CODING|NM_001258371.2||1),downstream_gene_variant(MODIFIER||658|||ACTN3||CODING|NR_047663.2||1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3937,0.4207,0.5497,0.63,0.81,0.53,,,,,,,,,,,,,,,,
synonymous_variant,CTSF,SILENT,NM_003793.3:p.Arg254Arg/c.762G>A,agG/agA,LOW,COSM4146162(1),0.588858,0.5536,rs545009,,,,-1.0534(T),,chr11,66333598,66333598,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg254Arg/c.762G>A|484|CTSF|protein_coding|CODING|NM_003793.3|6|1),"GM06990:H3K27me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3947,0.4207,0.5497,0.63,0.81,0.53,,,1.000(P),,0.0000(T),.,0.367152,5.84,-5.05,-0.332000,-1.130000,0.260000,0.006000,0.000000,0.007000,10.2624
synonymous_variant,CTSF,SILENT,NM_003793.3:p.Gly73Gly/c.219T>C,ggT/ggC,LOW,COSM429664(11),0.582668,0.5407,rs1127894,,,,,,chr11,66335548,66335548,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly73Gly/c.219T>C|484|CTSF|protein_coding|CODING|NM_003793.3|2|1),"K562:H3K4me3,GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K4me2,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3937,0.415,0.5378,,,,,,,,,,,,,,,,,,,
synonymous_variant,CCDC87,SILENT,NM_018219.2:p.Leu787Leu/c.2361G>A,ctG/ctA,LOW,,0.425519,0.4484,rs386595999,,,,,,chr11,66358126,66358126,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu787Leu/c.2361G>A|849|CCDC87|protein_coding|CODING|NM_018219.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27ac",,,,0.5971,0.6268,0.5129,0.41,0.19,0.53,,,,,,,,,,,,,,,,
missense_variant,CCDC87,MISSENSE,NM_018219.2:p.Leu738Arg/c.2213T>G,cTa/cGa,MODERATE,,0.014976,0,rs62000969,0(D),0.999(D),2.425(M),-0.9541(T),,chr11,66358274,66358274,A,C,het,missense_variant(MODERATE|MISSENSE|cTa/cGa|p.Leu738Arg/c.2213T>G|849|CCDC87|protein_coding|CODING|NM_018219.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HepG2:H3K27ac",,,,0.0153,0.0259,0.0378,0.04,0.01,0.05,,0.004020(N),0.986(D),1.6(T),0.0398(T),0.585,2.846324,5.07,5.07,0.459000,2.132000,5.171000,0.443000,0.876000,1.000000,11.1384
synonymous_variant,CCS,SILENT,NM_005125.1:p.Ala268Ala/c.804G>A,gcG/gcA,LOW,COSM429668(3),0.0786741,0.0208,rs1127145,,,,,,chr11,66373305,66373305,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala268Ala/c.804G>A|274|CCS|protein_coding|CODING|NM_005125.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1544,0.0793,0.1531,0.12,0.03,0.16,,,,,,,,,,,,,,,,
synonymous_variant,RBM14,SILENT,NM_006328.3:p.Thr511Thr/c.1533C>T,acC/acT,LOW,COSM3773608(1),0.0796725,0.0208,rs11550057,,,,,,chr11,66392880,66392880,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr511Thr/c.1533C>T|669|RBM14|protein_coding|CODING|NM_006328.3|2|1),intron_variant(MODIFIER|||c.338-1052C>T|119|RBM14|protein_coding|CODING|NM_001198837.1|1|1),intron_variant(MODIFIER|||c.337+8352C>T|339|RBM14-RBM4|protein_coding|CODING|NM_001198845.1|1|1),intron_variant(MODIFIER|||c.337+8352C>T|118|RBM14-RBM4|protein_coding|CODING|NM_001198846.1|1|1),intron_variant(MODIFIER|||c.449-1052C>T|156|RBM14|protein_coding|CODING|NM_001198836.1|2|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1544,0.0793,0.1531,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,SPTBN2,MISSENSE,NM_006946.2:p.Ser825Gly/c.2473A>G,Agc/Ggc,MODERATE,COSM3752675(5),0.987819,1,rs4930388,0.46(T),0.0(B),-0.9(N),-0.9611(T),,chr11,66472274,66472274,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser825Gly/c.2473A>G|2390|SPTBN2|protein_coding|CODING|NM_006946.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,1,0.9899,0.998,0.99,0.97,1.00,,0.000000(N),0.999(P),"0.67,0.67,0.67(T,T,T)",0.0000(T),0.065,0.631947,4.97,4.97,-0.186000,1.327000,2.017000,0.086000,1.000000,0.899000,12.6042
synonymous_variant,C11orf80,SILENT,NM_024650.3:p.Ser122Ser/c.366G>A,tcG/tcA,LOW,,,,,,,,,,chr11,66523873,66523873,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser122Ser/c.366G>A|677|C11orf80|protein_coding|CODING|NM_024650.3|3|1),intron_variant(MODIFIER|||n.185-2641G>A||C11orf80||CODING|NR_048553.1|1|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,RHOD,MISSENSE,NM_014578.3:p.Cys134Arg/c.400T>C,Tgc/Cgc,MODERATE,,0.999401,1,rs4930409,1(T),0.0(B),-3.78(N),-0.9295(T),,chr11,66837965,66837965,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys68Arg/c.202T>C|144|RHOD|protein_coding|CODING|NM_001300886.1|2|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys134Arg/c.400T>C|210|RHOD|protein_coding|CODING|NM_014578.3|4|1)","HMEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.000166(N),0.000(P),"-0.89,-0.89(T,T)",0.0000(T),0.382,-0.319311,4.75,4.75,-0.119000,1.245000,1.429000,0.806000,1.000000,1.000000,8.9934
synonymous_variant,KDM2A,SILENT,NM_012308.2:p.Thr351Thr/c.1053T>C,acT/acC,LOW,,0.944888,0.9425,rs3741189,,,,,,chr11,66995603,66995603,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr351Thr/c.1053T>C|1162|KDM2A|protein_coding|CODING|NM_012308.2|11|1),non_coding_exon_variant(MODIFIER|||n.1917T>C||KDM2A||CODING|NR_027473.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9816,0.9553,0.9811,0.96,0.90,0.99,,,,,,,,,,,,,,,,
synonymous_variant,ADRBK1,SILENT,NM_001619.3:p.Ile32Ile/c.96C>A,atC/atA,LOW,COSM3752678(7),0.648762,0.746,rs2228418,,,,,,chr11,67034266,67034266,C,A,hom,synonymous_variant(LOW|SILENT|atC/atA|p.Ile32Ile/c.96C>A|689|ADRBK1|protein_coding|CODING|NM_001619.3|1|1),"K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K36me3,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9458,0.5994,0.9195,0.74,0.37,0.93,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD13D,SILENT,NM_207354.2:p.Val446Val/c.1338T>C,gtT/gtC,LOW,,0.894768,0.8859,rs2298815,,,,,,chr11,67068859,67068859,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val446Val/c.1338T>C|605|ANKRD13D|protein_coding|CODING|NM_207354.2|12|1),non_coding_exon_variant(MODIFIER|||n.1591T>C||ANKRD13D||CODING|NR_030767.1|13|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9765,0.9467,0.9642,0.91,0.79,0.97,,,,,,,,,,,,,,,,
synonymous_variant,RPS6KB2,SILENT,NM_003952.2:p.Phe269Phe/c.807C>T,ttC/ttT,LOW,COSM147279(2),0.35603,0.3264,rs4930427,,,,,,chr11,67200819,67200819,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe269Phe/c.807C>T|482|RPS6KB2|protein_coding|CODING|NM_003952.2|10|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.226,0.5389,0.4225,0.38,0.31,0.42,,,,,,,,,,,,,,,,
missense_variant,RPS6KB2,MISSENSE,NM_003952.2:p.Ala420Val/c.1259C>T,gCc/gTc,MODERATE,COSM429715(3),0.486821,0.3264,rs13859,0.08(T),0.009(B),0(N),-0.9625(T),,chr11,67202156,67202156,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala420Val/c.1259C>T|482|RPS6KB2|protein_coding|CODING|NM_003952.2|14|1),downstream_gene_variant(MODIFIER||825||206|PTPRCAP|protein_coding|CODING|NM_005608.2||1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,GM12878:POU2F2,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.226,0.5692,0.4225,0.53,0.73,0.43,,0.000031(D),0.000(P),-0.32(T),0.0000(T),0.067,2.596768,4.45,4.45,0.462000,2.300000,6.850000,0.220000,0.998000,1.000000,15.058
missense_variant,AIP,MISSENSE,NM_003977.2:p.Gln228Lys/c.682C>A,Cag/Aag,MODERATE,COSM4146206(1),0.845447,1,rs641081,1(T),0.0(B),-0.445(N),-0.9524(T),,chr11,67257823,67257823,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln228Lys/c.682C>A|330|AIP|protein_coding|CODING|NM_003977.2|5|1),downstream_gene_variant(MODIFIER||1416||1243|PITPNM1|protein_coding|CODING|NM_001130848.1||1),downstream_gene_variant(MODIFIER||1416||1244|PITPNM1|protein_coding|CODING|NM_004910.2||1),downstream_gene_variant(MODIFIER||37|||MIR6752||NON_CODING|NR_106810.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9611,0.998,0.83,0.52,1.00,,0.027481(N),1.000(P),"-0.72,-0.72(T,T)",0.0000(T),0.158,-1.890280,5.39,1.08,-0.310000,0.231000,1.259000,0.001000,0.957000,0.008000,3.9205
missense_variant,AIP,MISSENSE,NM_003977.2:p.Gln307Arg/c.920A>G,cAg/cGg,MODERATE,COSM4146207(1),0.999401,1,rs4930199,1(T),0.0(B),-0.895(N),-0.9386(T),,chr11,67258391,67258391,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln307Arg/c.920A>G|330|AIP|protein_coding|CODING|NM_003977.2|6|1),downstream_gene_variant(MODIFIER||848||1243|PITPNM1|protein_coding|CODING|NM_001130848.1||1),downstream_gene_variant(MODIFIER||848||1244|PITPNM1|protein_coding|CODING|NM_004910.2||1),downstream_gene_variant(MODIFIER||605|||MIR6752||NON_CODING|NR_106810.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,1,1,1.00,1.00,1.00,,0.000023(N),1.000(P),-0.76(T),0.0000(T),0.012,-0.488428,5.39,4.49,-0.994000,0.792000,0.596000,0.697000,0.990000,0.612000,8.9463
synonymous_variant,PITPNM1,SILENT,NM_004910.2:p.Ala733Ala/c.2199T>C,gcT/gcC,LOW,COSM4146208(1),0.932308,0.9891,rs618633,,,,,,chr11,67263767,67263767,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala732Ala/c.2196T>C|1243|PITPNM1|protein_coding|CODING|NM_001130848.1|15|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala733Ala/c.2199T>C|1244|PITPNM1|protein_coding|CODING|NM_004910.2|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9841,0.999,0.93,0.79,1.00,,,,,,,,,,,,,,,,
missense_variant,GSTP1,MISSENSE,NM_000852.3:p.Ile105Val/c.313A>G,Atc/Gtc,MODERATE,COSM3752683(1),0.352636,0.1786,rs1695,1(T),0.0(B),-0.67(N),-0.9384(T),,chr11,67352689,67352689,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile105Val/c.313A>G|210|GSTP1|protein_coding|CODING|NM_000852.3|5|1),"NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HMEC:H3K4me2,IMR90:H3K36me3,HUVEC:H3K4me2,H1ESC:H3K4me1,GM12878:PolII,NHEK:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3",,,,0.2945,0.4755,0.331,0.36,0.42,0.33,,0.319940(N),0.999(P),"3.96,3.96(T,T)",0.0000(T),0.018,-2.264068,5.31,-1.16,-2.931000,-0.473000,-1.510000,0.001000,0.000000,0.000000,6.9834
missense_variant,GSTP1,MISSENSE,NM_000852.3:p.Ala114Val/c.341C>T,gCg/gTg,MODERATE,,0.0335463,0.001,rs1138272,0.15(T),0.065(B),2.115(M),-0.9912(T),,chr11,67353579,67353579,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala114Val/c.341C>T|210|GSTP1|protein_coding|CODING|NM_000852.3|6|1),"H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,NHEK:DNase1",,,,0.0706,0.0288,0.0706,0.06,0.02,0.08,,0.949193(N),0.691(N),3.7(T),0.0010(T),0.063,0.834825,5.3,0.531,0.563000,0.169000,0.198000,0.111000,0.114000,0.091000,6.256
synonymous_variant,GSTP1,SILENT,NM_000852.3:p.Ser185Ser/c.555T>C,agT/agC,LOW,COSM3752684(2),0.35603,0.1736,rs4891,,,,,,chr11,67353970,67353970,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser185Ser/c.555T>C|210|GSTP1|protein_coding|CODING|NM_000852.3|7|1),"H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2505,0.4885,0.337,0.38,0.45,0.34,,,,,,,,,,,,,,,,
synonymous_variant,NUDT8,SILENT,NM_001243750.1:p.Glu138Glu/c.414G>A,gaG/gaA,LOW,COSM3998550(3),0.232827,0.127,rs7124513,,,,,,chr11,67395714,67395714,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu138Glu/c.414G>A|236|NUDT8|protein_coding|CODING|NM_001243750.1|4|1),3_prime_UTR_variant(MODIFIER||62|c.*62G>A|140|NUDT8|protein_coding|CODING|NM_181843.2|3|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,H1ESC:DNase1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1554,0.4496,0.332,0.28,0.19,0.31,,,,,,,,,,,,,,,,
missense_variant,TBX10,MISSENSE,NM_005995.4:p.Lys101Thr/c.302A>C,aAg/aCg,MODERATE,COSM1746519(4),0.217252,0.131,rs3758938,0(D),0.986(D),1.605(L),-1.0970(T),,chr11,67402362,67402362,T,G,het,missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys101Thr/c.302A>C|385|TBX10|protein_coding|CODING|NM_005995.4|3|1),"H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.1442,0.4236,0.3042,0.25,0.17,0.29,,0.000111(D),0.074(P),-2.3(D),0.0000(T),0.293,2.237093,5.3,1.7,-0.371000,0.039000,7.595000,0.007000,0.889000,1.000000,8.5722
missense_variant,ACY3,MISSENSE,NM_080658.1:p.Arg8Gln/c.23G>A,cGg/cAg,MODERATE,COSM4146213(1),0.719848,0.746,rs948445,0.5(T),0.002(B),0(N),-0.9396(T),,chr11,67414492,67414492,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg8Gln/c.23G>A|319|ACY3|protein_coding|CODING|NM_080658.1|3|1),"GM12878:EBF,CD4:H3K4me1,IMR90:H3K27me3,GM06990:DNase1",,,,0.9387,0.8473,0.8121,0.71,0.49,0.83,,0.073978(N),1.000(P),-3.98(D),0.0000(T),0.016,1.267576,4.03,1.04,0.462000,0.003000,0.195000,0.788000,0.458000,0.000000,7.6933
missense_variant,ALDH3B2,MISSENSE,NM_000695.3:p.His361Arg/c.1082A>G,cAc/cGc,MODERATE,,0.868011,0.9097,rs1551886,1(T),0.0(B),-0.895(N),-1.0353(T),,chr11,67430762,67430762,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His361Arg/c.1082A>G|385|ALDH3B2|protein_coding|CODING|NM_000695.3|10|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His361Arg/c.1082A>G|385|ALDH3B2|protein_coding|CODING|NM_001031615.1|10|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9714,0.9193,0.8877,0.85,0.75,0.90,,0.000004(N),1.000(P),"-1.11,-1.11(T,T)",0.0000(T),0.14,-0.545187,3.75,-6.26,-0.320000,-2.051000,0.410000,0.010000,0.000000,0.641000,2.2306
missense_variant,ALDH3B2,MISSENSE,NM_000695.3:p.Ser220Gly/c.658A>G,Agc/Ggc,MODERATE,,0.999002,0.997,rs2447571,1(T),0.0(B),-1.165(N),-0.9422(T),,chr11,67432804,67432804,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser220Gly/c.658A>G|385|ALDH3B2|protein_coding|CODING|NM_000695.3|7|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser220Gly/c.658A>G|385|ALDH3B2|protein_coding|CODING|NM_001031615.1|7|1)","GM06990:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),1.000(P),"-0.93,-0.93(T,T)",0.0000(T),0.149,-1.016043,4.16,3.21,-0.355000,0.469000,0.940000,0.129000,0.051000,0.839000,9.1295
missense_variant,ALDH3B2,MISSENSE,NM_000695.3:p.His203Arg/c.608A>G,cAc/cGc,MODERATE,,0.936102,1,rs41499149,1(T),0.0(B),-2.32(N),-0.9443(T),,chr11,67432854,67432854,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His203Arg/c.608A>G|385|ALDH3B2|protein_coding|CODING|NM_000695.3|7|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His203Arg/c.608A>G|385|ALDH3B2|protein_coding|CODING|NM_001031615.1|7|1)","GM06990:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9769,1,0.94,0.81,1.00,,0.000003(N),1.000(P),"-0.96,-0.96(T,T)",0.0000(T),0.205,0.322815,4.16,3.24,-0.355000,0.507000,4.560000,0.981000,0.997000,1.000000,10.4338
missense_variant,ALDH3B2,MISSENSE,NM_000695.3:p.Ser52Asn/c.155G>A,aGt/aAt,MODERATE,COSM3720774(2),0.86861,0.9097,rs1551888,1(T),0.0(B),-3.465(N),-0.9499(T),,chr11,67433869,67433869,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser52Asn/c.155G>A|385|ALDH3B2|protein_coding|CODING|NM_000695.3|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser52Asn/c.155G>A|385|ALDH3B2|protein_coding|CODING|NM_001031615.1|5|1)","K562:H3K27me3,IMR90:H3K27me3",,,,0.9714,0.9193,0.8877,0.85,0.75,0.90,,0.000000(N),1.000(P),"0.22,0.22,0.22,0.22(T,T,T,T)",0.0000(T),0.289,-0.415668,4.2,4.2,-0.254000,0.761000,4.871000,0.528000,0.934000,1.000000,9.6594
missense_variant,ALDH3B1,MISSENSE,NM_000694.3:p.Thr249Met/c.746C>T,aCg/aTg,MODERATE,COSN163987,0.228435,0.2272,rs2286168,,,,,,chr11,67789138,67789138,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr249Met/c.746C>T|467|ALDH3B1|protein_coding|CODING|NM_000694.3|7|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr249Met/c.746C>T|467|ALDH3B1|protein_coding|CODING|NM_001161473.2|7|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr212Tyr/c.636C>T|430|ALDH3B1|protein_coding|CODING|NM_001030010.2|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr53Tyr/c.159C>T|271|ALDH3B1|protein_coding|CODING|NM_001290059.1|6|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.480-85C>T|350|ALDH3B1|protein_coding|CODING|NM_001290058.1|5|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS)","NHEK:CTCF,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,HepG2:CTCF",,,,0.2106,0.1614,0.2147,0.24,0.27,0.23,,,,,,,,,,,,,,,,
missense_variant,ALDH3B1,MISSENSE,NM_000694.3:p.Arg383Trp/c.1147C>T,Cgg/Tgg,MODERATE,,0.221246,0.2282,rs2286163,,,,,,chr11,67793509,67793509,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg383Trp/c.1147C>T|467|ALDH3B1|protein_coding|CODING|NM_000694.3|9|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala346Val/c.1037C>T|430|ALDH3B1|protein_coding|CODING|NM_001030010.2|8|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg383Trp/c.1147C>T|467|ALDH3B1|protein_coding|CODING|NM_001161473.2|9|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg266Trp/c.796C>T|350|ALDH3B1|protein_coding|CODING|NM_001290058.1|8|1|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala187Val/c.560C>T|271|ALDH3B1|protein_coding|CODING|NM_001290059.1|8|1|WARNING_TRANSCRIPT_INCOMPLETE)","HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2106,0.1571,0.2157,0.23,0.25,0.23,,,,,,,,,,,,,,,,
synonymous_variant,TCIRG1,SILENT,NM_006019.3:p.Leu415Leu/c.1245G>C,ctG/ctC,LOW,,0.969848,1,rs2471829,,,,-1.0102(T),,chr11,67814979,67814979,G,C,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu415Leu/c.1245G>C|830|TCIRG1|protein_coding|CODING|NM_006019.3|11|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu199Leu/c.597G>C|614|TCIRG1|protein_coding|CODING|NM_006053.3|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,0.998,0.97,0.93,1.00,,,0.000(P),,0.0000(T),.,1.430711,4.07,3.15,-0.357000,0.386000,0.466000,0.949000,1.000000,0.976000,3.7367
missense_variant,SUV420H1,MISSENSE,NM_017635.4:p.Ile9Asn/c.26T>A,aTc/aAc,MODERATE,,1,1,rs2512606,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.245(N),-0.9345(T),,chr11,67957518,67957518,A,T,hom,"missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile9Asn/c.26T>A|370|SUV420H1|protein_coding|CODING|NM_001300909.1|2|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile9Asn/c.26T>A|393|SUV420H1|protein_coding|CODING|NM_016028.4|2|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile9Asn/c.26T>A|885|SUV420H1|protein_coding|CODING|NM_017635.4|2|1),5_prime_UTR_variant(MODIFIER||15007|c.-559T>A|713|SUV420H1|protein_coding|CODING|NM_001300907.1|2|1),5_prime_UTR_variant(MODIFIER||18409|c.-642T>A|645|SUV420H1|protein_coding|CODING|NM_001300908.1|2|1)","HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.000000(N),0.998(P),"0.86,0.86,0.86,0.86,1.32,0.86(T,T,T,T,T,T)",0.0000(T),0.332,0.864897,5.77,5.77,-0.346000,1.121000,5.813000,0.994000,1.000000,1.000000,12.6974
missense_variant,C11orf24,MISSENSE,NM_022338.3:p.Ala150Thr/c.448G>A,Gca/Aca,MODERATE,COSM3752687(1),0.350439,0.4127,rs901827,1(T),0.006(B),0(N),-0.9472(T),,chr11,68030015,68030015,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala150Thr/c.448G>A|449|C11orf24|protein_coding|CODING|NM_022338.3|4|1),intron_variant(MODIFIER|||c.264+184G>A|114|C11orf24|protein_coding|CODING|NM_001300913.1|4|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2485,0.2911,0.4473,0.40,0.35,0.43,,,1.000(P),1.39(T),0.0000(T),0.048,-0.163472,3.24,-1.71,-0.515000,-0.761000,-0.128000,0.001000,0.000000,0.000000,9.1596
missense_variant,C11orf24,MISSENSE,NM_022338.3:p.Gly97Val/c.290G>T,gGt/gTt,MODERATE,,0.383387,0.4752,rs3802746,0.33(T),0.919(D),1.65(L),-0.9234(T),,chr11,68030173,68030173,C,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly97Val/c.290G>T|449|C11orf24|protein_coding|CODING|NM_022338.3|4|1),intron_variant(MODIFIER|||c.264+26G>T|114|C11orf24|protein_coding|CODING|NM_001300913.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.513,0.3062,0.26,0.16,0.31,,,1.000(P),0.54(T),0.0000(T),0.08,1.806515,3.37,1.45,0.305000,0.746000,0.759000,0.443000,0.005000,0.001000,6.6072
synonymous_variant,LRP5,SILENT,NM_002335.3:p.Phe549Phe/c.1647T>C,ttT/ttC,LOW,COSM4146219(1),0.841454,0.9851,rs545382,,,,,,chr11,68171013,68171013,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe549Phe/c.1647T>C|1615|LRP5|protein_coding|CODING|NM_002335.3|8|1),5_prime_UTR_variant(MODIFIER||814|c.-291T>C|1034|LRP5|protein_coding|CODING|NM_001291902.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9366,0.9063,0.9215,0.82,0.64,0.91,,,,,,,,,,,,,,,,
synonymous_variant,LRP5,SILENT,NM_002335.3:p.Glu644Glu/c.1932G>A,gaG/gaA,LOW,,0.0559105,0.0575,rs2277268,,,,,,chr11,68174122,68174122,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu63Glu/c.189G>A|1034|LRP5|protein_coding|CODING|NM_001291902.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu644Glu/c.1932G>A|1615|LRP5|protein_coding|CODING|NM_002335.3|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0297,0.0504,0.0716,0.07,0.07,0.07,,,,,,,,,,,,,,,,
missense_variant,GAL,MISSENSE,NM_015973.3:p.Ala16Val/c.47C>T,gCg/gTg,MODERATE,,0.00319489,0,rs34725707,0.11(T),0.003(B),0.63(N),-1.0705(T),,chr11,68452438,68452438,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala16Val/c.47C>T|123|GAL|protein_coding|CODING|NM_015973.3|2|1),"H1ESC:H3K36me3,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,K562:TFIIIC-110,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,K562:H3K4me2",,,,0,0.0072,0.0099,0.01,0.00,0.01,,0.004420(N),1.000(N),0.75(T),0.0484(T),0.16,0.134720,2.89,-0.281,-0.440000,-0.327000,0.007000,0.105000,0.001000,0.000000,5.7419
missense_variant,MTL5,MISSENSE,NM_004923.3:p.Cys223Arg/c.667T>C,Tgt/Cgt,MODERATE,COSM3752693(1),0.0471246,0.0188,rs12365708,0.2(T),"0.999,0.997(D,D)",1.04(L),-0.9227(T),,chr11,68512543,68512543,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys223Arg/c.667T>C|306|MTL5|protein_coding|CODING|NM_001039656.1|4|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys223Arg/c.667T>C|508|MTL5|protein_coding|CODING|NM_004923.3|4|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.0215,0.0706,0.1193,0.08,0.03,0.11,,0.000026(D),0.000(P),"0.75,-0.28,0.31(T,T,T)",0.0086(T),0.558,2.413044,5.35,5.35,0.533000,2.006000,1.869000,0.978000,1.000000,0.990000,13.5671
synonymous_variant,CPT1A,SILENT,NM_001876.3:p.Phe417Phe/c.1251T>C,ttT/ttC,LOW,,0.892572,0.9058,rs2228502,,,,,,chr11,68549340,68549340,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe417Phe/c.1251T>C|756|CPT1A|protein_coding|CODING|NM_001031847.2|11|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe417Phe/c.1251T>C|773|CPT1A|protein_coding|CODING|NM_001876.3|11|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9131,0.9265,0.9513,0.91,0.85,0.95,,,,,,,,,,,,,,,,
synonymous_variant,CPT1A,SILENT,NM_001876.3:p.Glu321Glu/c.963G>A,gaG/gaA,LOW,COSM3752694(1),0.0509185,0.0198,rs2229737,,,,,,chr11,68560787,68560787,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu321Glu/c.963G>A|756|CPT1A|protein_coding|CODING|NM_001031847.2|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu321Glu/c.963G>A|773|CPT1A|protein_coding|CODING|NM_001876.3|9|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079919.1|RCV000124598.1,,0.0235,0.0663,0.1233,0.08,0.04,0.11,,,,,,,,,,,,,,,,
missense_variant,CPT1A,MISSENSE,NM_001876.3:p.Arg288Gln/c.863G>A,cGg/cAg,MODERATE,,0.000798722,0,rs140958507,0.05(D),"0.074,0.263(B,B)",2.75(M),0.0488(D),,chr11,68562288,68562288,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg288Gln/c.863G>A|756|CPT1A|protein_coding|CODING|NM_001031847.2|8|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg288Gln/c.863G>A|773|CPT1A|protein_coding|CODING|NM_001876.3|8|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.001,0,0.003,0.01,0.00,0.01,,0.000001(N),1.000(D),"-2.61,-2.61,-2.61,-2.61(D,D,D,D)",0.5531(D),0.433,3.251625,5.15,3.22,0.655000,0.527000,4.425000,0.783000,0.972000,1.000000,10.1501
synonymous_variant,IGHMBP2,SILENT,NM_002180.2:p.Leu19Leu/c.57T>C,ctT/ctC,LOW,,0.67512,0.4653,rs1249463,,,,,,chr11,68671477,68671477,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu19Leu/c.57T>C|993|IGHMBP2|protein_coding|CODING|NM_002180.2|1|1),upstream_gene_variant(MODIFIER||174||205|MRPL21|protein_coding|CODING|NM_181514.1||1),upstream_gene_variant(MODIFIER||174||120|MRPL21|protein_coding|CODING|NM_181515.1||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,K562:USF1,GM12878:ZZZ3,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ini1,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Nrsf,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,GM12878:Nrsf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.7362,0.8156,0.8509,0.79,0.66,0.85,,,,,,,,,,,,,,,,
missense_variant,IGHMBP2,MISSENSE,NM_002180.2:p.Leu201Ser/c.602T>C,tTa/tCa,MODERATE,COSM4146225(1),0.680511,0.4633,rs560096,0.89(T),0.001(B),-0.53(N),-0.9876(T),,chr11,68678962,68678962,T,C,hom,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu201Ser/c.602T>C|993|IGHMBP2|protein_coding|CODING|NM_002180.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7372,0.817,0.8509,0.78,0.65,0.84,,0.977827(N),1.000(P),-1.57(D),0.0000(T),0.037,-0.621672,4.93,-1.58,-0.343000,-0.414000,-0.070000,0.309000,0.000000,0.000000,5.028
missense_variant,IGHMBP2,MISSENSE,NM_002180.2:p.Ile275Val/c.823A>G,Att/Gtt,MODERATE,COSM1178425(1),0.119808,0.0149,rs10896380,1(T),0.014(B),-0.475(N),-1.0918(T),,chr11,68682402,68682402,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile275Val/c.823A>G|993|IGHMBP2|protein_coding|CODING|NM_002180.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.044,0.1888,0.2674,0.21,0.12,0.25,,0.002293(N),0.000(P),-1.45(T),0.0000(T),0.063,0.343588,3.71,0.0501,0.454000,-0.090000,1.576000,0.699000,0.423000,0.869000,3.4248
synonymous_variant,IGHMBP2,SILENT,NM_002180.2:p.Val518Val/c.1554C>T,gtC/gtT,LOW,COSM429749(2),0.132788,0.0208,rs11228413,,,,,,chr11,68701948,68701948,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val518Val/c.1554C>T|993|IGHMBP2|protein_coding|CODING|NM_002180.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.0511,0.1902,0.2644,0.22,0.17,0.25,,,,,,,,,,,,,,,,
missense_variant,IGHMBP2,MISSENSE,NM_002180.2:p.Arg694Trp/c.2080C>T,Cgg/Tgg,MODERATE,COSM3722147(2),0.132987,0.0208,rs2236654,0.02(D),0.003(B),1.59(L),-0.9635(T),,chr11,68704028,68704028,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg694Trp/c.2080C>T|993|IGHMBP2|protein_coding|CODING|NM_002180.2|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0511,0.1902,0.2644,0.22,0.17,0.25,,0.000184(N),0.393(P),-2.72(D),0.0003(T),0.109,2.845377,3.53,3.53,0.561000,1.982000,0.198000,0.016000,0.003000,0.000000,11.0997
missense_variant,IGHMBP2,MISSENSE,NM_002180.2:p.Thr879Lys/c.2636C>A,aCg/aAg,MODERATE,COSM3752696(1),0.197085,0.2212,rs17612126,0.93(T),0.03(B),1.04(L),-0.9314(T),,chr11,68705674,68705674,C,A,het,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr879Lys/c.2636C>A|993|IGHMBP2|protein_coding|CODING|NM_002180.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1748,0.438,0.2654,0.21,0.08,0.28,,0.000004(N),1.000(P),-2.51(D),0.0000(T),0.05,-0.835530,3.9,-3.62,0.462000,-0.893000,0.878000,0.020000,0.000000,0.523000,0.3694
synonymous_variant,MRGPRD,SILENT,NM_198923.2:p.Thr151Thr/c.453A>G,acA/acG,LOW,COSM3752697(1),0.629193,0.4871,rs34847539,,,,,,chr11,68748003,68748003,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr151Thr/c.453A>G|321|MRGPRD|protein_coding|CODING|NM_198923.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3916,0.7983,0.6412,0.69,0.81,0.62,,,,,,,,,,,,,,,,
synonymous_variant,MRGPRF,SILENT,NM_001098515.1:p.Cys125Cys/c.375C>T,tgC/tgT,LOW,COSM3765596(2),0.232428,0.2272,rs11544722,,,,,,chr11,68773403,68773403,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys125Cys/c.375C>T|343|MRGPRF|protein_coding|CODING|NM_001098515.1|3|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys125Cys/c.375C>T|343|MRGPRF|protein_coding|CODING|NM_145015.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3037,0.1354,0.2694,0.24,0.20,0.26,,,,,,,,,,,,,,,,
synonymous_variant,TPCN2,SILENT,NM_139075.3:p.Ala116Ala/c.348T>C,gcT/gcC,LOW,,0.998802,1,rs1470892,,,,,,chr11,68822739,68822739,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala116Ala/c.348T>C|752|TPCN2|protein_coding|CODING|NM_139075.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,TPCN2,MISSENSE,NM_139075.3:p.Val219Ile/c.655G>A,Gtc/Atc,MODERATE,COSM3752698(2),0.0397364,0.005,rs72928978,0.48(T),"0.769,0.46,0.458(P,P,P)",1.885(L),-0.7962(T),,chr11,68831364,68831364,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val219Ile/c.655G>A|752|TPCN2|protein_coding|CODING|NM_139075.3|7|1),splice_region_variant(LOW|||c.655G>A|752|TPCN2|protein_coding|CODING|NM_139075.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0184,0.0418,0.1402,0.09,0.02,0.12,,0.000000(D),0.000(P),"-5.18,-5.18(D,D)",0.0608(T),0.223,3.994884,4.6,4.6,0.484000,2.123000,7.798000,0.485000,0.450000,1.000000,17.0178
synonymous_variant,TPCN2,SILENT,NM_139075.3:p.Tyr386Tyr/c.1158T>C,taT/taC,LOW,COSM1162432(2),0.338059,0.2867,rs1466221,,,,,,chr11,68840397,68840397,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr386Tyr/c.1158T>C|752|TPCN2|protein_coding|CODING|NM_139075.3|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2004,0.3329,0.4851,0.46,0.40,0.50,,,,,,,,,,,,,,,,
missense_variant,TPCN2,MISSENSE,NM_139075.3:p.Gly387Asp/c.1160G>A,gGc/gAc,MODERATE,COSM3752699(1),0.0882588,0.0744,rs61746574,0.6(T),"0.05,0.035,0.108(B,B,B)",0.69(N),-0.3149(T),,chr11,68840399,68840399,G,A,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly387Asp/c.1160G>A|752|TPCN2|protein_coding|CODING|NM_139075.3|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.098,0.1173,0.11,0.08,0.12,,0.129735(N),1.000(P),"-4.38,-4.42(D,D)",0.0434(T),0.188,0.271017,5.24,-1.1,-0.258000,-0.147000,0.436000,0.000000,0.000000,0.000000,6.1816
synonymous_variant,TPCN2,SILENT,NM_139075.3:p.Leu391Leu/c.1173C>G,ctC/ctG,LOW,COSM3752700(1),0.334465,0.2867,rs1466220,,,,,,chr11,68840412,68840412,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu391Leu/c.1173C>G|752|TPCN2|protein_coding|CODING|NM_139075.3|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2004,0.3271,0.4841,0.46,0.39,0.50,,,,,,,,,,,,,,,,
missense_variant,TPCN2,MISSENSE,NM_139075.3:p.Met484Leu/c.1450A>T,Atg/Ttg,MODERATE,COSM4146228(1),0.0996406,0.0109,rs35264875,0.83(T),"0.007,0.005,0.004(B,B,B)",1.405(L),-0.9964(T),,chr11,68846399,68846399,A,T,het,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met484Leu/c.1450A>T|752|TPCN2|protein_coding|CODING|NM_139075.3|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Blond_vs_brown_hair_color,RCV000000763.1,,0.2055,0.085,0.1988,0.13,0.04,0.18,,0.221759(N),0.434(P),"-4.35,-4.35(D,D)",0.0001(T),0.335,-0.641124,4.35,-3.89,-0.689000,-0.538000,0.673000,0.406000,0.985000,0.977000,10.1342
missense_variant,TPCN2,MISSENSE,NM_139075.3:p.Leu564Pro/c.1691T>C,cTg/cCg,MODERATE,,0.752995,0.504,rs2376558,0.21(T),0.001(B),0.44(N),-0.9521(T),,chr11,68851414,68851414,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu564Pro/c.1691T>C|752|TPCN2|protein_coding|CODING|NM_139075.3|19|1),splice_region_variant(LOW|||c.1691T>C|752|TPCN2|protein_coding|CODING|NM_139075.3|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9182,0.6124,0.9871,0.91,0.76,0.99,,0.143462(N),0.000(P),-4.93(D),0.0000(T),0.041,0.203105,3.76,2.65,-0.355000,0.180000,3.571000,0.046000,0.807000,1.000000,5.787
synonymous_variant,TPCN2,SILENT,NM_139075.3:p.Ala581Ala/c.1743G>T,gcG/gcT,LOW,COSM3752701(1),0.333466,0.2867,rs896973,,,,,,chr11,68851466,68851466,G,T,het,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala581Ala/c.1743G>T|752|TPCN2|protein_coding|CODING|NM_139075.3|19|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.3285,0.4831,0.46,0.38,0.50,,,,,,,,,,,,,,,,
synonymous_variant,TPCN2,SILENT,NM_139075.3:p.Val675Val/c.2025A>G,gtA/gtG,LOW,COSM4146229(1),0.103235,0.0109,rs35337391,,,,,,chr11,68854012,68854012,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val675Val/c.2025A>G|752|TPCN2|protein_coding|CODING|NM_139075.3|23|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.085,0.2038,0.13,0.05,0.18,,,,,,,,,,,,,,,,
synonymous_variant,ANO1,SILENT,NM_018043.5:p.Ser112Ser/c.336G>A,tcG/tcA,LOW,,0.199481,0.0268,rs10898112,,,,,,chr11,69934085,69934085,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser112Ser/c.336G>A|986|ANO1|protein_coding|CODING|NM_018043.5|2|1),non_coding_exon_variant(MODIFIER|||n.489G>A||ANO1||CODING|NR_030691.1|2|1)","GM06990:H3K27me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.1166,0.2911,0.2654,0.25,0.24,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ANO1,SILENT,NM_018043.5:p.Arg541Arg/c.1623A>G,agA/agG,LOW,COSM4146241(1),0.603235,0.7798,rs2276066,,,,,,chr11,70007311,70007311,A,G,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg541Arg/c.1623A>G|986|ANO1|protein_coding|CODING|NM_018043.5|17|1),non_coding_exon_variant(MODIFIER|||n.1686A>G||ANO1||CODING|NR_030691.1|15|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6656,0.5807,0.6501,0.59,0.44,0.66,,,,,,,,,,,,,,,,
synonymous_variant,ANO1,SILENT,NM_018043.5:p.Ala568Ala/c.1704A>G,gcA/gcG,LOW,,0.658147,0.7798,rs2276067,,,,,,chr11,70007392,70007392,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala568Ala/c.1704A>G|986|ANO1|protein_coding|CODING|NM_018043.5|17|1),non_coding_exon_variant(MODIFIER|||n.1767A>G||ANO1||CODING|NR_030691.1|15|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6636,0.6081,0.6561,0.64,0.59,0.66,,,,,,,,,,,,,,,,
missense_variant,ANO1,MISSENSE,NM_018043.5:p.Phe608Ser/c.1823T>C,tTc/tCc,MODERATE,COSM4146243(1),0.0201677,0,rs2186797,,"0.217,0.1,0.58(B,B,P)",2.265(M),-0.7238(T),,chr11,70007770,70007770,T,C,het,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe608Ser/c.1823T>C|986|ANO1|protein_coding|CODING|NM_018043.5|18|1),non_coding_exon_variant(MODIFIER|||n.1886T>C||ANO1||CODING|NR_030691.1|16|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0041,0.0418,0.0636,0.05,0.02,0.07,,0.000000(D),0.000(P),"-0.02,-0.02,-0.02,-0.02,-0.02,-0.02(T,T,T,T,T,T)",0.0417(T),0.74,3.709394,5.01,5.01,0.459000,1.888000,7.586000,0.993000,1.000000,1.000000,14.7301
synonymous_variant,CTTN,SILENT,NM_001184740.1:p.Arg591Arg/c.1773G>A,agG/agA,LOW,COSM4146253(1),0.0169728,0,rs386429329,,,,,,chr11,70281845,70281845,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg591Arg/c.1773G>A|634|CTTN|protein_coding|CODING|NM_001184740.1|18|1),3_prime_UTR_variant(MODIFIER||577|c.*577G>A|550|CTTN|protein_coding|CODING|NM_005231.3|18|1),3_prime_UTR_variant(MODIFIER||577|c.*577G>A|513|CTTN|protein_coding|CODING|NM_138565.2|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0303,0.0557,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,DHCR7,SILENT,NM_001163817.1:p.Asp447Asp/c.1341C>T,gaC/gaT,LOW,,0.00279553,0,rs139721775,,,,,,chr11,71146508,71146508,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp447Asp/c.1341C>T|475|DHCR7|protein_coding|CODING|NM_001163817.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp447Asp/c.1341C>T|475|DHCR7|protein_coding|CODING|NM_001360.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079642.1,,0.0041,0.0086,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,DHCR7,SILENT,NM_001163817.1:p.Gly424Gly/c.1272C>T,ggC/ggT,LOW,COSM329305(1),0.381989,0.3839,rs909217,,,,,,chr11,71146577,71146577,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly424Gly/c.1272C>T|475|DHCR7|protein_coding|CODING|NM_001163817.1|9|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly424Gly/c.1272C>T|475|DHCR7|protein_coding|CODING|NM_001360.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079641.1,,0.1524,0.513,0.6978,0.60,0.34,0.74,,,,,,,,,,,,,,,,
synonymous_variant,DHCR7,SILENT,NM_001163817.1:p.Asp386Asp/c.1158T>C,gaT/gaC,LOW,COSM429787(2),0.75639,0.7688,rs760241,0.05(D),,,-0.8818(T),,chr11,71146691,71146691,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp386Asp/c.1158T>C|475|DHCR7|protein_coding|CODING|NM_001163817.1|9|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp386Asp/c.1158T>C|475|DHCR7|protein_coding|CODING|NM_001360.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079639.1,,0.6268,0.7666,0.9553,0.87,0.73,0.95,,,0.000(P),-5.64(D),0.0000(T),.,-0.953340,5.12,-10.2,-1.981000,-2.600000,-0.798000,0.009000,0.001000,0.047000,11.9429
synonymous_variant,DHCR7,SILENT,NM_001163817.1:p.Asn146Asn/c.438T>C,aaT/aaC,LOW,,0.807308,0.8274,rs949177,,,,,,chr11,71152461,71152461,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn146Asn/c.438T>C|475|DHCR7|protein_coding|CODING|NM_001163817.1|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn146Asn/c.438T>C|475|DHCR7|protein_coding|CODING|NM_001360.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000079654.1,,0.6299,0.8055,0.9493,0.91,0.84,0.95,,,,,,,,,,,,,,,,
synonymous_variant,DHCR7,SILENT,NM_001163817.1:p.Thr69Thr/c.207T>C,acT/acC,LOW,COSM4146259(1),0.810104,0.8274,rs1790334,,,,,,chr11,71155153,71155153,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr69Thr/c.207T>C|475|DHCR7|protein_coding|CODING|NM_001163817.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr69Thr/c.207T>C|475|DHCR7|protein_coding|CODING|NM_001360.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079649.1,,0.6299,0.8069,0.9553,0.91,0.85,0.95,,,,,,,,,,,,,,,,
synonymous_variant,DHCR7,SILENT,NM_001163817.1:p.Gln63Gln/c.189G>A,caG/caA,LOW,COSM3931425(1),0.400958,0.3591,rs1044482,,,,,,chr11,71155171,71155171,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln63Gln/c.189G>A|475|DHCR7|protein_coding|CODING|NM_001163817.1|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln63Gln/c.189G>A|475|DHCR7|protein_coding|CODING|NM_001360.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079647.1,,0.1452,0.5403,0.6978,0.63,0.41,0.74,,,,,,,,,,,,,,,,
missense_variant,NADSYN1,MISSENSE,NM_018161.4:p.Val74Leu/c.220G>C,Gtg/Ctg,MODERATE,COSM3998565(1),0.403954,0.381,rs2276360,1(T),0.001(B),-1.875(N),-0.9915(T),,chr11,71169547,71169547,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val74Leu/c.220G>C|706|NADSYN1|protein_coding|CODING|NM_018161.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1513,0.4697,0.7018,0.64,0.43,0.74,,0.000005(N),0.000(P),-2.22(D),0.0000(T),0.62,-0.590150,4.35,-2.34,-0.216000,-0.823000,0.274000,0.749000,0.037000,0.043000,6.6657
missense_variant,NADSYN1,MISSENSE,NM_018161.4:p.Gln204His/c.612A>C,caA/caC,MODERATE,COSM4146261(1),1,1,rs7950441,1(T),0.0(B),-2.96(N),-0.9436(T),,chr11,71184678,71184678,A,C,hom,"missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln204His/c.612A>C|706|NADSYN1|protein_coding|CODING|NM_018161.4|8|1),downstream_gene_variant(MODIFIER||64|||MIR6754||NON_CODING|NR_106812.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000000(N),0.000(P),-1.94(D),0.0000(T),0.387,-1.688417,4.99,1.05,-0.999000,-0.053000,-0.014000,0.044000,0.996000,0.972000,3.9235
synonymous_variant,NADSYN1,SILENT,NM_018161.4:p.Cys235Cys/c.705T>C,tgT/tgC,LOW,,0.801917,0.8274,rs2276354,,,,,,chr11,71185479,71185479,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys235Cys/c.705T>C|706|NADSYN1|protein_coding|CODING|NM_018161.4|9|1),downstream_gene_variant(MODIFIER||865|||MIR6754||NON_CODING|NR_106812.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.745,0.9563,0.91,0.84,0.95,,,,,,,,,,,,,,,,
synonymous_variant,NADSYN1,SILENT,NM_018161.4:p.Ile248Ile/c.744T>C,atT/atC,LOW,COSM4146262(1),0.749601,0.8284,rs2186778,,,,,,chr11,71185518,71185518,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile248Ile/c.744T>C|706|NADSYN1|protein_coding|CODING|NM_018161.4|9|1),downstream_gene_variant(MODIFIER||904|||MIR6754||NON_CODING|NR_106812.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6237,0.7248,0.9553,0.86,0.68,0.95,,,,,,,,,,,,,,,,
synonymous_variant,FAM86C1,SILENT,NM_018172.2:p.Pro3Pro/c.9C>G,ccC/ccG,LOW,COSM1316986(6),0.447284,0.3403,rs12270466,,,,,,chr11,71498591,71498591,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro3Pro/c.9C>G|158|FAM86C1|protein_coding|CODING|NM_001099653.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro3Pro/c.9C>G|165|FAM86C1|protein_coding|CODING|NM_018172.2|1|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro3Pro/c.9C>G|131|FAM86C1|protein_coding|CODING|NM_152563.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6636,0.3458,0.5646,,,,,,,,,,,,,,,,,,,
missense_variant,FAM86C1,MISSENSE,NM_018172.2:p.Ala7Ser/c.19G>T,Gcg/Tcg,MODERATE,COSM1561601(9),0.447883,0.3423,rs12283300,0.01(D),"0.537,0.984,0.053(P,D,B)",1.355(L),-0.9104(T),,chr11,71498601,71498601,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala7Ser/c.19G>T|158|FAM86C1|protein_coding|CODING|NM_001099653.1|1|1),missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala7Ser/c.19G>T|165|FAM86C1|protein_coding|CODING|NM_018172.2|1|1),missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala7Ser/c.19G>T|131|FAM86C1|protein_coding|CODING|NM_152563.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6646,0.3458,0.5646,,,,,,1.000(P),"2.15,2.15,2.15,2.15(T,T,T,T)",0.0000(T),0.376,1.635370,1.78,0.792,0.184000,0.968000,0.154000,0.022000,0.001000,0.000000,3.6282
synonymous_variant,FAM86C1,SILENT,NM_018172.2:p.Ala22Ala/c.66A>G,gcA/gcG,LOW,COSM3721744(4),0.450479,0.3452,rs12277291,,,,,,chr11,71498648,71498648,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala22Ala/c.66A>G|158|FAM86C1|protein_coding|CODING|NM_001099653.1|1|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala22Ala/c.66A>G|165|FAM86C1|protein_coding|CODING|NM_018172.2|1|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala22Ala/c.66A>G|131|FAM86C1|protein_coding|CODING|NM_152563.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6697,0.3487,0.5666,,,,,,,,,,,,,,,,,,,
missense_variant,FAM86C1,MISSENSE,NM_018172.2:p.Arg30Pro/c.89G>C,cGc/cCc,MODERATE,COSM3749187(5),0.451478,0.3452,rs12283346,1(T),"0.0,0.0,0.0(B,B,B)",,-0.9325(T),,chr11,71498671,71498671,G,C,het,"missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg30Pro/c.89G>C|158|FAM86C1|protein_coding|CODING|NM_001099653.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg30Pro/c.89G>C|165|FAM86C1|protein_coding|CODING|NM_018172.2|1|1),missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg30Pro/c.89G>C|131|FAM86C1|protein_coding|CODING|NM_152563.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6708,0.3516,0.5666,,,,,,1.000(P),"3.07,3.07,3.07,3.07(T,T,T,T)",0.0000(T),0.438,-0.550640,2.47,2.47,-1.123000,0.155000,0.888000,0.041000,0.784000,0.633000,7.3824
synonymous_variant,INPPL1,SILENT,NM_001567.3:p.Ser329Ser/c.987A>G,tcA/tcG,LOW,COSM4146291(1),0.36222,0.3403,rs2276048,,,,,,chr11,71941212,71941212,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser329Ser/c.987A>G|1258|INPPL1|protein_coding|CODING|NM_001567.3|9|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.411,0.2622,0.2087,0.28,0.49,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PDE2A,SILENT,NM_002599.4:p.Ala867Ala/c.2601A>G,gcA/gcG,LOW,COSM3998577(1),0.298323,0.245,rs1135029,,,,,,chr11,72289291,72289291,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala860Ala/c.2580A>G|934|PDE2A|protein_coding|CODING|NM_001143839.3|29|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala858Ala/c.2574A>G|932|PDE2A|protein_coding|CODING|NM_001146209.2|31|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala846Ala/c.2538A>G|920|PDE2A|protein_coding|CODING|NM_001243784.1|30|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala867Ala/c.2601A>G|941|PDE2A|protein_coding|CODING|NM_002599.4|30|1)","HeLa-S3:DNase1,HUVEC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3824,0.3213,0.5298,0.41,0.18,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PDE2A,SILENT,NM_002599.4:p.Asp579Asp/c.1737T>C,gaT/gaC,LOW,,0.954872,1,rs4944557,,,,,,chr11,72293602,72293602,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp572Asp/c.1716T>C|934|PDE2A|protein_coding|CODING|NM_001143839.3|20|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp570Asp/c.1710T>C|932|PDE2A|protein_coding|CODING|NM_001146209.2|22|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp558Asp/c.1674T>C|920|PDE2A|protein_coding|CODING|NM_001243784.1|21|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp579Asp/c.1737T>C|941|PDE2A|protein_coding|CODING|NM_002599.4|21|1)","GM06990:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9885,1,0.95,0.86,1.00,,,,,,,,,,,,,,,,
missense_variant,ARAP1,MISSENSE,NM_001040118.2:p.Gln1047Glu/c.3139C>G,Cag/Gag,MODERATE,COSM429808(6),0.249201,0.2431,rs56200889,0.02(D),"0.017,0.009,0.026,0.115,0.01(B,B,B,B,B)",1.23(L),-1.0151(T),,chr11,72408055,72408055,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln1047Glu/c.3139C>G|1450|ARAP1|protein_coding|CODING|NM_001040118.2|22|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln741Glu/c.2221C>G|1133|ARAP1|protein_coding|CODING|NM_001135190.1|19|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln802Glu/c.2404C>G|1205|ARAP1|protein_coding|CODING|NM_015242.4|20|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.3067,0.2147,0.2624,0.24,0.21,0.25,,0.005208(N),1.000(P),"2.19,2.19,2.19,2.19,2.19,2.19,2.19(T,T,T,T,T,T,T)",0.0000(T),0.264,2.158091,5.35,4.43,0.455000,2.501000,0.552000,0.872000,1.000000,0.016000,9.4767
missense_variant,P2RY2,MISSENSE,NM_176072.2:p.Pro46Leu/c.137C>T,cCt/cTt,MODERATE,COSM4146312(1),0.907348,0.8839,rs2511241,1(T),0.0(B),-0.805(N),-0.9545(T),,chr11,72945341,72945341,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro46Leu/c.137C>T|377|P2RY2|protein_coding|CODING|NM_176072.2|3|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro46Leu/c.137C>T|377|P2RY2|protein_coding|CODING|NM_002564.3|3|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro46Leu/c.137C>T|377|P2RY2|protein_coding|CODING|NM_176071.2|3|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.8957,0.9553,0.9165,0.92,0.91,0.93,,0.015735(N),0.959(P),"1.56,1.56,1.56(T,T,T)",0.0000(T),0.163,0.015240,5.28,5.28,-0.332000,0.853000,6.217000,0.500000,0.886000,1.000000,10.4505
synonymous_variant,P2RY2,SILENT,NM_176072.2:p.Arg272Arg/c.816C>T,cgC/cgT,LOW,COSM3739269(4),0.576677,0.619,rs1783596,,,,,,chr11,72946020,72946020,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg272Arg/c.816C>T|377|P2RY2|protein_coding|CODING|NM_176072.2|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg272Arg/c.816C>T|377|P2RY2|protein_coding|CODING|NM_002564.3|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg272Arg/c.816C>T|377|P2RY2|protein_coding|CODING|NM_176071.2|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.4796,0.6628,0.5636,0.56,0.57,0.56,,,,,,,,,,,,,,,,
missense_variant,P2RY2,MISSENSE,NM_176072.2:p.Arg312Ser/c.936G>C,agG/agC,MODERATE,COSM3752719(1),0.272364,0.5397,rs3741156,0.55(T),0.008(B),0.665(N),-0.9202(T),,chr11,72946140,72946140,G,C,het,"missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg312Ser/c.936G>C|377|P2RY2|protein_coding|CODING|NM_176072.2|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg312Ser/c.936G>C|377|P2RY2|protein_coding|CODING|NM_002564.3|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg312Ser/c.936G>C|377|P2RY2|protein_coding|CODING|NM_176071.2|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.2975,0.4107,0.2266,0.18,0.06,0.24,,0.044477(N),0.657(P),"1.65,1.65,1.65(T,T,T)",0.0000(T),0.469,0.205055,4.09,2.16,-0.254000,0.305000,1.609000,0.022000,0.983000,1.000000,6.0799
missense_variant,ARHGEF17,MISSENSE,NM_014786.3:p.Arg388Leu/c.1163G>T,cGc/cTc,MODERATE,,0.0489217,0.0099,rs3741151,0(D),0.001(B),0.895(L),-0.8800(T),,chr11,73020846,73020846,G,T,het,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg388Leu/c.1163G>T|2063|ARHGEF17|protein_coding|CODING|NM_014786.3|1|1),"HepG2:H3K4me2,HeLa-S3:DNase1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HeLa-S3:H3K4me2,HMEC:H3K4me2,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K36me3,HepG2:H3K9ac,HUVEC:H3K4me1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.0767,0.0403,0.0924,0.08,0.04,0.10,,0.106306(N),1.000(P),-0.55(T),0.0085(T),0.113,2.802497,4.12,3.1,0.462000,2.244000,2.467000,0.546000,0.769000,0.917000,12.0047
synonymous_variant,ARHGEF17,SILENT,NM_014786.3:p.Ile467Ile/c.1401C>T,atC/atT,LOW,,0.156949,0.0437,rs3741149,,,,,,chr11,73021084,73021084,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile467Ile/c.1401C>T|2063|ARHGEF17|protein_coding|CODING|NM_014786.3|1|1),"HepG2:H3K4me2,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,HMEC:H3K4me2,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.0787,0.0764,0.0934,0.18,0.33,0.10,,,,,,,,,,,,,,,,
synonymous_variant,ARHGEF17,SILENT,NM_014786.3:p.Leu1599Leu/c.4797C>T,ctC/ctT,LOW,COSM3752722(2),0.0477236,0.0099,rs76764824,,,,,,chr11,73073580,73073580,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1599Leu/c.4797C>T|2063|ARHGEF17|protein_coding|CODING|NM_014786.3|14|1),"HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0767,0.0403,0.0895,0.07,0.04,0.09,,,,,,,,,,,,,,,,
synonymous_variant,ARHGEF17,SILENT,NM_014786.3:p.Ser1644Ser/c.4932G>T,tcG/tcT,LOW,,0.00139776,0,rs138108633,,,,,,chr11,73073715,73073715,G,T,het,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser1644Ser/c.4932G>T|2063|ARHGEF17|protein_coding|CODING|NM_014786.3|14|1),"HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0,0.0029,0.004,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,RELT,SILENT,NM_032871.3:p.Pro384Pro/c.1152A>C,ccA/ccC,LOW,COSM429822(1),0.0469249,0.0129,rs11544311,,,,,,chr11,73106237,73106237,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro384Pro/c.1152A>C|430|RELT|protein_coding|CODING|NM_032871.3|10|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro384Pro/c.1152A>C|430|RELT|protein_coding|CODING|NM_152222.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.047,0.0476,0.0954,0.08,0.04,0.10,,,,,,,,,,,,,,,,
synonymous_variant,RELT,SILENT,NM_032871.3:p.Thr403Thr/c.1209A>C,acA/acC,LOW,,0.130591,0.0129,rs17851510,,,,,,chr11,73106294,73106294,A,C,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr403Thr/c.1209A>C|430|RELT|protein_coding|CODING|NM_032871.3|10|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr403Thr/c.1209A>C|430|RELT|protein_coding|CODING|NM_152222.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0767,0.0778,0.1083,0.15,0.24,0.10,,,,,,,,,,,,,,,,
synonymous_variant,FAM168A,SILENT,NM_001286050.1:p.His167His/c.501T>C,caT/caC,LOW,COSM3752723(2),0.287939,0.0665,rs10793060,,,,,,chr11,73120653,73120653,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His167His/c.501T>C|244|FAM168A|protein_coding|CODING|NM_001286050.1|7|1),synonymous_variant(LOW|SILENT|caT/caC|p.His158His/c.474T>C|235|FAM168A|protein_coding|CODING|NM_015159.2|6|1),intron_variant(MODIFIER|||c.278-1965T>C|129|FAM168A|protein_coding|CODING|NM_001286051.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.2421,0.2038,0.32,0.56,0.21,,,,,,,,,,,,,,,,
synonymous_variant,DNAJB13,SILENT,NM_153614.2:p.His93His/c.279T>C,caT/caC,LOW,COSM3752724(2),0.601038,0.4534,rs653263,,,,,,chr11,73670645,73670645,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His93His/c.279T>C|316|DNAJB13|protein_coding|CODING|NM_153614.2|3|1),H1ESC:H3K36me3,,,,0.5072,0.5663,0.4751,0.58,0.80,0.46,,,,,,,,,,,,,,,,
synonymous_variant,DNAJB13,SILENT,NM_153614.2:p.Phe294Phe/c.882C>T,ttC/ttT,LOW,COSM4146320(1),0.252196,0.1637,rs2306819,,,,,,chr11,73681090,73681090,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe294Phe/c.882C>T|316|DNAJB13|protein_coding|CODING|NM_153614.2|8|1),"K562:PolII,CD4:H2BK5ac,CD4:H4K91ac,CD4:H3K27ac,CD4:H3K23ac,HeLa-S3:PolII,NHEK:H3K27me3,CD4:H3K4me1,GM12878:PolII,CD4:H4K5ac,CD4:PolII,CD4:H2BK120ac",,,,0.2413,0.3847,0.3161,0.28,0.22,0.31,,,0.000(P),,,.,1.979869,5.54,-6.43,-0.365000,-1.213000,-0.949000,0.988000,0.862000,0.032000,10.2747
missense_variant,DNAJB13,MISSENSE,NM_153614.2:p.Met309Ile/c.927G>A,atG/atA,MODERATE,COSM4146323(1),0.223442,0.1637,rs72982975,,,-0.52(N),-0.9964(T),,chr11,73681135,73681135,G,A,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met309Ile/c.927G>A|316|DNAJB13|protein_coding|CODING|NM_153614.2|8|1),"K562:PolII,CD4:H2BK5ac,CD4:H4K91ac,CD4:H3K27ac,HeLa-S3:PolII,NHEK:H3K27me3,CD4:H3K4me1,GM12878:PolII,CD4:H4K5ac,CD4:PolII",,,,0.2035,0.3473,0.2575,0.24,0.20,0.26,,,0.305(P),,0.0000(T),.,3.036820,5.54,4.59,0.644000,2.619000,2.898000,0.982000,1.000000,1.000000,13.1925
missense_variant,UCP2,MISSENSE,NM_003355.2:p.Ala55Val/c.164C>T,gCc/gTc,MODERATE,,0.416134,0.4177,rs660339,0.17(T),"0.002,0.003(B,B)",0.29(N),-1.0013(T),,chr11,73689104,73689104,G,A,hom,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala55Val/c.164C>T|309|UCP2|protein_coding|CODING|NM_003355.2|4|1),"H1ESC:H3K36me3,CD4:H2BK5ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118811.2,,0.3671,0.4409,0.4046,0.42,0.44,0.41,,0.000126(D),0.992(P),"-1.37,-1.37,-1.37(T,T,T)",0.0000(T),0.173,0.997031,6.07,5.14,0.655000,1.533000,1.934000,0.013000,0.974000,0.146000,9.5193
synonymous_variant,UCP3,SILENT,NM_003356.3:p.Tyr210Tyr/c.630C>T,taC/taT,LOW,,0.590655,0.4246,rs2075577,,,,,,chr11,73715542,73715542,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr210Tyr/c.630C>T|312|UCP3|protein_coding|CODING|NM_003356.3|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr210Tyr/c.630C>T|275|UCP3|protein_coding|CODING|NM_022803.2|5|1)","CD4:H4K91ac,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,GM06990:H3K36me3",,,,0.4928,0.5418,0.5378,0.63,0.80,0.55,,,,,,,,,,,,,,,,
synonymous_variant,C2CD3,SILENT,NM_001286577.1:p.Val1641Val/c.4923A>G,gtA/gtG,LOW,,0.451078,0.4425,rs4453265,,,,,,chr11,73785326,73785326,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1641Val/c.4923A>G|2353|C2CD3|protein_coding|CODING|NM_001286577.1|24|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1641Val/c.4923A>G|1963|C2CD3|protein_coding|CODING|NM_015531.5|24|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4479,0.4798,0.4692,0.45,0.42,0.47,,,,,,,,,,,,,,,,
missense_variant,C2CD3,MISSENSE,NM_001286577.1:p.Arg1219Gln/c.3656G>A,cGg/cAg,MODERATE,COSM1178427(2),0.35024,0.1577,rs386616563,,0.0(B),-1.67(N),-0.9805(T),,chr11,73796917,73796917,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1219Gln/c.3656G>A|2353|C2CD3|protein_coding|CODING|NM_001286577.1|21|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1219Gln/c.3656G>A|1963|C2CD3|protein_coding|CODING|NM_015531.5|21|1)","H1ESC:H3K36me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,K562:Cjun,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.2434,0.4135,0.3091,0.37,0.51,0.31,,0.000770(N),0.000(P),"3.16,3.15,2.71(T,T,T)",0.0000(T),0.056,-0.344862,5.8,4.66,-0.254000,0.447000,2.328000,0.253000,1.000000,1.000000,7.8745
synonymous_variant,C2CD3,SILENT,NM_001286577.1:p.Leu919Leu/c.2755C>T,Ctg/Ttg,LOW,,0.0329473,0.0546,rs17132707,,,,,,chr11,73809278,73809278,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu919Leu/c.2755C>T|2353|C2CD3|protein_coding|CODING|NM_001286577.1|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu919Leu/c.2755C>T|1963|C2CD3|protein_coding|CODING|NM_015531.5|16|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0793,0.0437,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,PGM2L1,SILENT,NM_173582.3:p.Ser570Ser/c.1710T>C,agT/agC,LOW,,0.554712,0.7887,rs386588387,,,,,,chr11,74049569,74049569,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser570Ser/c.1710T>C|622|PGM2L1|protein_coding|CODING|NM_173582.3|13|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.6524,0.6268,0.6243,0.51,0.29,0.63,,,,,,,,,,,,,,,,
missense_variant,PGM2L1,MISSENSE,NM_173582.3:p.Val531Ile/c.1591G>A,Gtt/Att,MODERATE,,0.740415,0.7956,rs592644,0.09(T),0.005(B),1.42(L),-0.9737(T),,chr11,74053547,74053547,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val531Ile/c.1591G>A|622|PGM2L1|protein_coding|CODING|NM_173582.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.729,0.7133,0.6849,0.71,0.76,0.69,,0.150212(N),1.000(P),1.56(T),0.0000(T),0.015,1.914689,5.8,-5.47,-0.360000,-1.312000,-2.754000,0.970000,0.024000,0.000000,15.9114
missense_variant,LIPT2,MISSENSE,NM_001144869.1:p.Thr190Ser/c.568A>T,Aca/Tca,MODERATE,COSM147288(2),0.508786,0.6329,rs586088,,,0.37(N),-0.9230(T),,chr11,74203308,74203308,T,A,hom,missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr190Ser/c.568A>T|231|LIPT2|protein_coding|CODING|NM_001144869.1|2|1),"CD4:H4K20me1,CD4:H2BK5me1,NHEK:H3K36me3",,,,0.4693,0.5014,0.6153,,,,,,0.981(P),,0.0000(T),.,2.611992,5.25,4.05,0.459000,1.975000,3.778000,0.609000,0.988000,0.901000,8.5129
synonymous_variant,LIPT2,SILENT,NM_001144869.1:p.Leu8Leu/c.22T>C,Ttg/Ctg,LOW,COSM4146325(1),0.932708,1,rs4944895,,,,,,chr11,74204727,74204727,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu8Leu/c.22T>C|231|LIPT2|protein_coding|CODING|NM_001144869.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,1,0.9769,0.999,,,,,,,,,,,,,,,,,,,
synonymous_variant,CHRDL2,SILENT,NM_015424.4:p.Gln172Gln/c.516G>A,caG/caA,LOW,COSM1163585(1),0.763978,0.8006,rs1944937,,,,,,chr11,74419357,74419357,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln172Gln/c.516G>A|429|CHRDL2|protein_coding|CODING|NM_001278473.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln172Gln/c.516G>A|451|CHRDL2|protein_coding|CODING|NM_015424.4|5|1)",HepG2:H3K27me3,,,,0.7434,0.8429,0.7475,0.74,0.73,0.75,,,,,,,,,,,,,,,,
synonymous_variant,CHRDL2,SILENT,NM_015424.4:p.Pro165Pro/c.495G>A,ccG/ccA,LOW,COSM3752734(1),0.333866,0.5357,rs7948433,,,,,,chr11,74419378,74419378,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro165Pro/c.495G>A|429|CHRDL2|protein_coding|CODING|NM_001278473.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro165Pro/c.495G>A|451|CHRDL2|protein_coding|CODING|NM_015424.4|5|1)",HepG2:H3K27me3,,,,0.181,0.5677,0.3807,0.31,0.18,0.38,,,,,,,,,,,,,,,,
missense_variant,XRRA1,MISSENSE,NM_182969.2:p.Thr473Arg/c.1418C>G,aCg/aGg,MODERATE,COSM3752735(1),0.282947,0.5089,rs4944960,0.63(T),"0.171,0.789,0.417,0.424,0.424(B,P,B,B,B)",1.61(L),-0.9321(T),,chr11,74559446,74559446,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr386Arg/c.1157C>G|598|XRRA1|protein_coding|CODING|NM_001270380.1|12|1),missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr198Arg/c.593C>G|517|XRRA1|protein_coding|CODING|NM_001270381.1|12|1),missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr473Arg/c.1418C>G|792|XRRA1|protein_coding|CODING|NM_182969.2|15|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.089,0.4885,0.2843,0.23,0.16,0.26,,0.421977(N),1.000(P),"0.76,1.48,0.73(T,T,T)",0.0000(T),0.134,2.302324,3.91,-4.08,0.591000,-0.876000,-0.008000,0.003000,0.000000,0.000000,0.2488
synonymous_variant,XRRA1,SILENT,NM_182969.2:p.Pro461Pro/c.1383G>A,ccG/ccA,LOW,COSM4146327(1),0.279553,0.5089,rs4944961,,,,,,chr11,74559481,74559481,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro374Pro/c.1122G>A|598|XRRA1|protein_coding|CODING|NM_001270380.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro186Pro/c.558G>A|517|XRRA1|protein_coding|CODING|NM_001270381.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro461Pro/c.1383G>A|792|XRRA1|protein_coding|CODING|NM_182969.2|15|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1002,0.4957,0.3181,0.25,0.13,0.30,,,,,,,,,,,,,,,,
synonymous_variant,XRRA1,SILENT,NM_182969.2:p.Cys399Cys/c.1197C>T,tgC/tgT,LOW,COSM3752736(1),0.267572,0.506,rs2304683,,,,,,chr11,74563077,74563077,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys124Cys/c.372C>T|517|XRRA1|protein_coding|CODING|NM_001270381.1|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys399Cys/c.1197C>T|792|XRRA1|protein_coding|CODING|NM_182969.2|13|1),intron_variant(MODIFIER|||c.980-829C>T|598|XRRA1|protein_coding|CODING|NM_001270380.1|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.089,0.4827,0.2833,0.22,0.12,0.26,,,,,,,,,,,,,,,,
missense_variant,XRRA1,MISSENSE,NM_182969.2:p.Ala229Val/c.686C>T,gCg/gTg,MODERATE,,0.0253594,0.001,rs61736355,0.25(T),"0.92,0.067(D,B)",2.005(M),-1.0989(T),,chr11,74618265,74618265,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala229Val/c.686C>T|598|XRRA1|protein_coding|CODING|NM_001270380.1|9|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala229Val/c.686C>T|792|XRRA1|protein_coding|CODING|NM_182969.2|9|1),5_prime_UTR_variant(MODIFIER||14|c.-14C>T|517|XRRA1|protein_coding|CODING|NM_001270381.1|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0432,0.0845,0.05,0.02,0.07,,0.058645(N),1.000(N),"1.81,0.6,0.63(T,T,T)",0.0187(T),0.202,3.078317,5.51,2.46,0.591000,0.701000,1.671000,0.955000,0.845000,0.611000,5.3954
synonymous_variant,NEU3,SILENT,NM_006656.5:p.Ser79Ser/c.237T>C,tcT/tcC,LOW,,0.704073,0.7748,rs544115,,,,,,chr11,74705696,74705696,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser79Ser/c.237T>C|461|NEU3|protein_coding|CODING|NM_006656.5|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5818,0.8026,0.8012,0.76,0.67,0.81,,,,,,,,,,,,,,,,
missense_variant,SLCO2B1,MISSENSE,NM_007256.4:p.Ile392Thr/c.1175T>C,aTc/aCc,MODERATE,,1,1,rs1621378,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.975(N),-0.9790(T),,chr11,74904362,74904362,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile370Thr/c.1109T>C|687|SLCO2B1|protein_coding|CODING|NM_001145211.2|9|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile248Thr/c.743T>C|565|SLCO2B1|protein_coding|CODING|NM_001145212.2|6|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile392Thr/c.1175T>C|709|SLCO2B1|protein_coding|CODING|NM_007256.4|9|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,1,1,1,,,,,0.000984(N),1.000(P),"1.28,1.28,1.28,1.28,1.28,1.28,1.28(T,T,T,T,T,T,T)",0.0000(T),0.257,-1.606836,5.28,3.3,-1.164000,0.649000,2.678000,0.041000,0.998000,1.000000,6.6923
synonymous_variant,KLHL35,SILENT,NM_001039548.2:p.Gly537Gly/c.1611C>T,ggC/ggT,LOW,COSM147290(1),0.108626,0.1885,rs11539810,,,,,,chr11,75133765,75133765,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly537Gly/c.1611C>T|583|KLHL35|protein_coding|CODING|NM_001039548.2|6|1),downstream_gene_variant(MODIFIER||420||243|RPS3|protein_coding|CODING|NM_001256802.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,0.2178,0.0432,0.0656,0.06,0.04,0.07,,,,,,,,,,,,,,,,
synonymous_variant,KLHL35,SILENT,NM_001039548.2:p.Glu15Glu/c.45A>G,gaA/gaG,LOW,,0.666134,0.6637,rs11236430,,,,,,chr11,75141630,75141630,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu15Glu/c.45A>G|583|KLHL35|protein_coding|CODING|NM_001039548.2|1|1),"H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K27me3,HeLa-S3:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K27ac,IMR90:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,GM12878:Nrsf,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.6411,0.4654,0.5765,,,,,,,,,,,,,,,,,,,
missense_variant,GDPD5,MISSENSE,NM_030792.6:p.Ala480Thr/c.1438G>A,Gcc/Acc,MODERATE,COSM330244(3),0.667133,0.9236,rs571353,0.52(T),"0.001,0.0(B,B)",-1.04(N),-1.0002(T),,chr11,75152243,75152243,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala480Thr/c.1438G>A|605|GDPD5|protein_coding|CODING|NM_030792.6|14|1),"HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6012,0.719,0.7147,0.66,0.51,0.73,,0.914893(N),1.000(P),"0.87,0.87,0.87,0.87,0.87,0.87,0.87(T,T,T,T,T,T,T)",0.0000(T),0.317,0.507351,4.84,-0.0935,-0.288000,-0.362000,-0.306000,0.731000,0.014000,0.000000,10.374
synonymous_variant,GDPD5,SILENT,NM_030792.6:p.Arg185Arg/c.555C>T,cgC/cgT,LOW,,0.534944,0.8095,rs518611,,,,,,chr11,75160575,75160575,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg185Arg/c.555C>T|605|GDPD5|protein_coding|CODING|NM_030792.6|8|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.5409,0.6282,0.6203,0.52,0.28,0.64,,,,,,,,,,,,,,,,
synonymous_variant,SERPINH1,SILENT,NM_001207014.1:p.Leu78Leu/c.234A>G,ctA/ctG,LOW,COSM3752738(7),0.889976,0.7282,rs584961,,,,,,chr11,75277628,75277628,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu78Leu/c.234A>G|418|SERPINH1|protein_coding|CODING|NM_001207014.1|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu78Leu/c.234A>G|418|SERPINH1|protein_coding|CODING|NM_001235.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,0.9438,0.9294,0.8877,0.91,0.95,0.90,,,,,,,,,,,,,,,,
synonymous_variant,SERPINH1,SILENT,NM_001207014.1:p.Leu200Leu/c.598C>T,Cta/Tta,LOW,COSM3752739(6),0.299321,0.2976,rs651581,,,,,,chr11,75277992,75277992,C,T,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu200Leu/c.598C>T|418|SERPINH1|protein_coding|CODING|NM_001207014.1|3|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu200Leu/c.598C>T|418|SERPINH1|protein_coding|CODING|NM_001235.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.3262,0.3213,0.5417,0.43,0.17,0.56,,,,,,,,,,,,,,,,
synonymous_variant,MAP6,SILENT,NM_033063.1:p.Asp583Asp/c.1749T>C,gaT/gaC,LOW,COSM4146331(1),0.376198,0.2579,rs1231128,,,,,,chr11,75298797,75298797,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp583Asp/c.1749T>C|813|MAP6|protein_coding|CODING|NM_033063.1|4|1),HepG2:H3K27me3,,,,0.5235,0.5648,0.3161,0.30,0.29,0.31,,,,,,,,,,,,,,,,
missense_variant,MAP6,MISSENSE,NM_033063.1:p.Ile247Met/c.741T>G,atT/atG,MODERATE,COSM1132965(3),0.548922,0.5655,rs12225010,0.7(T),0.0(B),-1.995(N),-0.9347(T),,chr11,75378674,75378674,A,C,hom,"missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile247Met/c.741T>G|813|MAP6|protein_coding|CODING|NM_033063.1|1|1),missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile247Met/c.741T>G|439|MAP6|protein_coding|CODING|NM_207577.1|1|1)","NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.545,0.5389,0.5338,,,,,0.001977(N),0.000(P),"1.08,1.07(T,T)",0.0000(T),0.185,-0.798147,4.5,3.59,-0.975000,0.553000,1.540000,0.091000,0.929000,0.002000,11.4797
missense_variant,DGAT2,MISSENSE,NM_032564.4:p.Arg297Gln/c.890G>A,cGa/cAa,MODERATE,,0.00119808,0,rs140793537,0.04(D),"0.166,0.221(B,B)",2.825(M),-0.9764(T),,chr11,75509352,75509352,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg254Gln/c.761G>A|345|DGAT2|protein_coding|CODING|NM_001253891.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg297Gln/c.890G>A|388|DGAT2|protein_coding|CODING|NM_032564.4|7|1)","GM12878:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0014,0,0.00,0.00,0.00,,0.000388(D),1.000(D),"1.84,1.84(T,T)",0.0728(T),0.826,3.917588,5.59,3.65,0.655000,1.453000,6.248000,0.998000,0.967000,1.000000,9.2512
synonymous_variant,WNT11,SILENT,NM_004626.2:p.Pro136Pro/c.408C>T,ccC/ccT,LOW,COSM3752740(2),0.223442,0.2212,rs1533767,,,,,,chr11,75905800,75905800,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro136Pro/c.408C>T|354|WNT11|protein_coding|CODING|NM_004626.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2495,0.3487,0.2604,0.21,0.13,0.25,,,,,,,,,,,,,,,,
synonymous_variant,LOC100506127,SILENT,NM_001282456.1:p.Asp188Asp/c.564T>C,gaT/gaC,LOW,,0.0209665,0,rs80006998,,,,,,chr11,76114885,76114885,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp188Asp/c.564T>C|254|LOC100506127|protein_coding|CODING|NM_001282456.1|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0235,0.0317,0.0557,,,,,,,,,,,,,,,,,,,
synonymous_variant,LRRC32,SILENT,NM_001128922.1:p.Pro615Pro/c.1845T>C,ccT/ccC,LOW,COSM4146334(1),1,1,rs4304809,,,,,,chr11,76370792,76370792,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro615Pro/c.1845T>C|662|LRRC32|protein_coding|CODING|NM_001128922.1|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro615Pro/c.1845T>C|662|LRRC32|protein_coding|CODING|NM_005512.2|3|1)","GM06990:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,LRRC32,SILENT,NM_001128922.1:p.Gly195Gly/c.585T>C,ggT/ggC,LOW,COSM4146336(1),0.625399,0.6349,rs3740779,,,,,,chr11,76372052,76372052,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly195Gly/c.585T>C|662|LRRC32|protein_coding|CODING|NM_001128922.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly195Gly/c.585T>C|662|LRRC32|protein_coding|CODING|NM_005512.2|3|1)","HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.6667,0.5692,0.6064,0.62,0.63,0.62,,,,,,,,,,,,,,,,
synonymous_variant,LRRC32,SILENT,NM_001128922.1:p.Thr73Thr/c.219A>G,acA/acG,LOW,COSM1357053(1),0.880192,0.7976,rs3740778,,,,,,chr11,76372418,76372418,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr73Thr/c.219A>G|662|LRRC32|protein_coding|CODING|NM_001128922.1|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr73Thr/c.219A>G|662|LRRC32|protein_coding|CODING|NM_005512.2|3|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9008,0.7882,0.8588,0.90,0.97,0.87,,,,,,,,,,,,,,,,
missense_variant,TSKU,MISSENSE,NM_001258210.1:p.Asp344Glu/c.1032T>A,gaT/gaA,MODERATE,,0.82508,0.8492,rs1149621,1(T),0.0(B),-0.695(N),-0.9872(T),,chr11,76507692,76507692,T,A,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp344Glu/c.1032T>A|353|TSKU|protein_coding|CODING|NM_001258210.1|2|1),missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp344Glu/c.1032T>A|353|TSKU|protein_coding|CODING|NM_015516.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7454,0.7147,0.7535,0.84,0.95,0.78,,0.028696(N),1.000(P),"1.53,1.53(T,T)",0.0000(T),0.007,0.223111,4.64,-4.78,-1.330000,-1.096000,-0.746000,0.494000,0.001000,0.000000,3.333
missense_variant,ACER3,MISSENSE,NM_018367.6:p.Val52Ile/c.154G>A,Gtt/Att,MODERATE,COSM1579474(1),0.629593,0.5903,rs4379869,0.48(T),0.0(B),-1.095(N),-0.9970(T),,chr11,76637651,76637651,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val52Ile/c.154G>A|267|ACER3|protein_coding|CODING|NM_018367.6|2|1),5_prime_UTR_variant(MODIFIER||49700|c.-203G>A|172|ACER3|protein_coding|CODING|NM_001300954.1|2|1),5_prime_UTR_variant(MODIFIER||49700|c.-79G>A|172|ACER3|protein_coding|CODING|NM_001300955.1|2|1),intron_variant(MODIFIER|||c.104-32372G>A|230|ACER3|protein_coding|CODING|NM_001300953.1|1|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.6493,0.5058,0.7167,0.70,0.64,0.74,,0.003539(N),0.000(P),"1.01,1.01,1.01(T,T,T)",0.0000(T),0.161,0.073629,5.76,2.15,-0.254000,0.103000,1.020000,0.951000,0.998000,1.000000,5.1628
synonymous_variant,ACER3,SILENT,NM_018367.6:p.Lys61Lys/c.183G>A,aaG/aaA,LOW,,0.503794,0.5903,rs4479014,,,,,,chr11,76637680,76637680,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys61Lys/c.183G>A|267|ACER3|protein_coding|CODING|NM_018367.6|2|1),5_prime_UTR_variant(MODIFIER||49671|c.-174G>A|172|ACER3|protein_coding|CODING|NM_001300954.1|2|1),5_prime_UTR_variant(MODIFIER||49671|c.-50G>A|172|ACER3|protein_coding|CODING|NM_001300955.1|2|1),intron_variant(MODIFIER|||c.104-32343G>A|230|ACER3|protein_coding|CODING|NM_001300953.1|1|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.6493,0.4726,0.7127,0.58,0.29,0.73,,,,,,,,,,,,,,,,
synonymous_variant,ACER3,SILENT,NM_018367.6:p.Pro142Pro/c.426G>A,ccG/ccA,LOW,,0.532947,0.6349,rs3740767,,,,,,chr11,76701606,76701606,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro105Pro/c.315G>A|230|ACER3|protein_coding|CODING|NM_001300953.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro47Pro/c.141G>A|172|ACER3|protein_coding|CODING|NM_001300954.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro47Pro/c.141G>A|172|ACER3|protein_coding|CODING|NM_001300955.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro142Pro/c.426G>A|267|ACER3|protein_coding|CODING|NM_018367.6|6|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.6994,0.5072,0.7366,0.60,0.29,0.76,,,,,,,,,,,,,,,,
missense_variant,B3GNT6,MISSENSE,NM_138706.4:p.Ala191Thr/c.571G>A,Gcg/Acg,MODERATE,COSM3752741(2),0.190495,0.1825,rs73493606,0.54(T),0.012(B),0.08(N),-0.9616(T),,chr11,76751166,76751166,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala191Thr/c.571G>A|384|B3GNT6|protein_coding|CODING|NM_138706.4|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1227,0.111,0.0954,0.18,0.32,0.10,,0.555878(N),1.000(P),"1.01,1.01,1.01(T,T,T)",0.0000(T),0.031,0.579304,3.55,1.11,0.462000,0.260000,-1.882000,0.780000,0.210000,0.000000,3.1991
missense_variant,MYO7A,MISSENSE,NM_000260.3:p.Leu16Ser/c.47T>C,tTg/tCg,MODERATE,COSM4146342(1),0.513578,0.4812,rs1052030,0.59(T),"0.0,0.0,0.0(B,B,B)",-1.43(N),-0.9270(T),,chr11,76853783,76853783,T,C,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu16Ser/c.47T>C|2215|MYO7A|protein_coding|CODING|NM_000260.3|3|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu16Ser/c.47T>C|1178|MYO7A|protein_coding|CODING|NM_001127179.2|3|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu16Ser/c.47T>C|2175|MYO7A|protein_coding|CODING|NM_001127180.1|3|1)","CD4:H3K18ac,CD4:H4K91ac,CD4:H2BK20ac,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000036163.1,,0.4192,0.3775,0.341,0.47,0.72,0.34,,0.000387(N),1.000(P),"-2.17,-2.25,-2.17,-2.18(D,D,D,D)",0.0000(T),0.029,-0.065832,4.84,3.91,-0.355000,0.636000,4.469000,0.961000,0.847000,1.000000,10.384
synonymous_variant,MYO7A,SILENT,NM_000260.3:p.Ser1358Ser/c.4074C>T,tcC/tcT,LOW,,0.00399361,0,rs78996818,,,,,,chr11,76903245,76903245,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1358Ser/c.4074C>T|2215|MYO7A|protein_coding|CODING|NM_000260.3|31|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1358Ser/c.4074C>T|2175|MYO7A|protein_coding|CODING|NM_001127180.1|31|1)","K562:ZBTB7A,NHEK:CTCF,K562:Max,K562:H3K4me3,K562:PolII,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,HeLa-S3:CTCF,GM12878:CTCF,K562:Cmyc,K562:CTCFL,HMEC:CTCF,K562:E2F6,H1ESC:Yy1,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HepG2:DNase1,HMEC:DNase1,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,RCV000036137.1|RCV000127055.1,,0.002,0.0058,0.001,0.01,0.01,0.01,,,,,,,,,,,,,,,,
missense_variant,MYO7A,MISSENSE,NM_000260.3:p.Leu1954Ile/c.5860C>A,Ctc/Atc,MODERATE,COSM3739295(2),0.499002,0.3343,rs948962,1(T),0.001(B),,-0.9449(T),,chr11,76919478,76919478,C,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu1954Ile/c.5860C>A|2215|MYO7A|protein_coding|CODING|NM_000260.3|43|1),missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu1916Ile/c.5746C>A|2175|MYO7A|protein_coding|CODING|NM_001127180.1|43|1)","HSMM:DNase1,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000036209.1,,0.2832,0.549,0.5,0.55,0.69,0.48,,0.001753(N),0.000(P),"-1.04,-1.04,-1.04,-1.04(T,T,T,T)",0.0000(T),0.097,-0.743420,4.29,4.29,-0.512000,0.699000,5.790000,0.269000,1.000000,1.000000,11.0982
synonymous_variant,MYO7A,SILENT,NM_000260.3:p.Asn2173Asn/c.6519C>T,aaC/aaT,LOW,,0.00838658,0,rs111033230,,,,,,chr11,76924985,76924985,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2173Asn/c.6519C>T|2215|MYO7A|protein_coding|CODING|NM_000260.3|48|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2133Asn/c.6399C>T|2175|MYO7A|protein_coding|CODING|NM_001127180.1|48|1)","IMR90:H3K27me3,HepG2:H3K36me3",,RCV000036237.1|RCV000127064.1,,0.0112,0.0029,0.0109,0.01,0.01,0.02,,,,,,,,,,,,,,,,
missense_variant,GDPD4,MISSENSE,NM_182833.1:p.Ile390Val/c.1168A>G,Att/Gtt,MODERATE,,0.254393,0.256,rs11237145,0.92(T),0.001(B),-0.065(N),-0.9887(T),,chr11,76954812,76954812,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile390Val/c.1168A>G|520|GDPD4|protein_coding|CODING|NM_182833.1|12|1),HUVEC:DNase1,,,,0.4489,0.1916,0.3738,0.27,0.10,0.36,,0.353264(N),1.000(P),"2.84,2.84(T,T)",0.0000(T),0.041,-1.522396,4.27,-8.54,-1.874000,-2.006000,-3.063000,0.000000,0.000000,0.000000,3.1474
synonymous_variant,GDPD4,SILENT,NM_182833.1:p.Ala315Ala/c.945T>A,gcT/gcA,LOW,,0.0091853,0,rs143740353,,,,,,chr11,76956467,76956467,A,T,het,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala315Ala/c.945T>A|520|GDPD4|protein_coding|CODING|NM_182833.1|11|1),,,,,0.0112,0.0029,0.0109,0.02,0.01,0.02,,,,,,,,,,,,,,,,
missense_variant,AQP11,MISSENSE,NM_173039.2:p.Gly102Ser/c.304G>A,Ggc/Agc,MODERATE,COSM3998591(1),0.145966,0.1825,rs2276415,0.32(T),0.334(B),1.955(M),-1.0770(T),,chr11,77301341,77301341,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly102Ser/c.304G>A|271|AQP11|protein_coding|CODING|NM_173039.2|1|1),"CD4:H3K9me1,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1391,0.1902,0.0964,0.11,0.14,0.09,,0.000215(N),0.000(P),-1.92(D),0.0009(T),0.103,3.402396,5.54,3.68,0.491000,0.715000,2.719000,0.983000,1.000000,1.000000,9.8641
synonymous_variant,RSF1,SILENT,NM_016578.3:p.Leu1300Leu/c.3900A>G,ctA/ctG,LOW,COSM147293(1),0.196286,0.1736,rs4945197,,,,,,chr11,77378388,77378388,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1300Leu/c.3900A>G|1441|RSF1|protein_coding|CODING|NM_016578.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.2147,0.0984,0.17,0.30,0.10,,,,,,,,,,,,,,,,
synonymous_variant,RSF1,SILENT,NM_016578.3:p.Asp1261Asp/c.3783T>C,gaT/gaC,LOW,,0.196286,0.1736,rs28930682,,,,,,chr11,77378505,77378505,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1261Asp/c.3783T>C|1441|RSF1|protein_coding|CODING|NM_016578.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.2147,0.0984,0.17,0.30,0.10,,,,,,,,,,,,,,,,
synonymous_variant,RSF1,SILENT,NM_016578.3:p.Pro893Pro/c.2679A>G,ccA/ccG,LOW,,0.196885,0.1736,rs4945203,,,,-0.9868(T),,chr11,77409568,77409568,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro893Pro/c.2679A>G|1441|RSF1|protein_coding|CODING|NM_016578.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.2161,0.0984,0.17,0.31,0.10,,,0.000(P),,0.0000(T),.,0.916226,4.68,-8.3,-0.930000,-2.263000,-1.814000,0.979000,0.444000,0.001000,2.551
synonymous_variant,AAMDC,SILENT,NM_024684.2:p.Gly32Gly/c.96T>C,ggT/ggC,LOW,COSM147294(1),0.390775,0.2688,rs585721,,,,,,chr11,77553638,77553638,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly32Gly/c.96T>C|122|AAMDC|protein_coding|CODING|NM_024684.2|2|1),"HUVEC:H3K36me3,IMR90:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:SP1",,,,0.3528,0.3948,0.3688,0.42,0.52,0.37,,,,,,,,,,,,,,,,
missense_variant,AAMDC,MISSENSE,NM_024684.2:p.Val92Met/c.274G>A,Gtg/Atg,MODERATE,COSM147295(1),0.140974,0.1766,rs2186564,0.06(T),0.953(D),2.28(M),-1.0995(T),,chr11,77583266,77583266,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val92Met/c.274G>A|122|AAMDC|protein_coding|CODING|NM_024684.2|4|1),"HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.1888,0.1004,0.10,0.12,0.10,,0.000001(D),0.000(P),"-1.51,-1.51,-1.51,-1.51,-1.51(D,D,D,D,D)",0.0018(T),0.524,4.244571,5.28,5.28,0.655000,2.746000,6.493000,0.986000,0.998000,1.000000,14.3405
synonymous_variant,KCTD14,SILENT,NM_023930.3:p.Pro29Pro/c.87A>G,ccA/ccG,LOW,COSM429906(4),0.689696,0.5694,rs11237362,,,,,,chr11,77734209,77734209,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro29Pro/c.87A>G|255|KCTD14|protein_coding|CODING|NM_023930.3|1|1),intron_variant(MODIFIER|||c.*1-5893A>G|134|NDUFC2-KCTD14|protein_coding|CODING|NM_001203260.1|3|1),intron_variant(MODIFIER|||c.*1-5893A>G|86|NDUFC2-KCTD14|protein_coding|CODING|NM_001203262.1|2|1),intron_variant(MODIFIER|||c.1-5893A>G|225|KCTD14|protein_coding|CODING|NM_001282406.1|2|1),intron_variant(MODIFIER|||c.311-5893A>G|114|NDUFC2-KCTD14|protein_coding|CODING|NM_001203261.1|2|1)","H1ESC:PolII,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.816,0.8127,0.8002,0.75,0.60,0.82,,,,,,,,,,,,,,,,
synonymous_variant,NDUFC2-KCTD14,SILENT,NM_001203260.1:p.Leu46Leu/c.138A>G,ctA/ctG,LOW,COSM4146354(2),0.842053,0.7192,rs534418,,,,,,chr11,77790653,77790653,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu46Leu/c.138A>G|134|NDUFC2-KCTD14|protein_coding|CODING|NM_001203260.1|1|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu46Leu/c.138A>G|114|NDUFC2-KCTD14|protein_coding|CODING|NM_001203261.1|1|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu46Leu/c.138A>G|86|NDUFC2-KCTD14|protein_coding|CODING|NM_001203262.1|1|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu46Leu/c.138A>G|88|NDUFC2|protein_coding|CODING|NM_001204054.1|1|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu46Leu/c.138A>G|96|NDUFC2|protein_coding|CODING|NM_001204055.1|1|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu46Leu/c.138A>G|119|NDUFC2|protein_coding|CODING|NM_004549.5|1|1),intron_variant(MODIFIER|||n.22-25794A>G||RNU6-83P||NON_CODING|NR_046948.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.817,0.9164,0.833,0.88,0.91,0.85,,,,,,,,,,,,,,,,
missense_variant,NDUFC2-KCTD14,MISSENSE,NM_001203260.1:p.Leu46Val/c.136C>G,Cta/Gta,MODERATE,COSM3752754(2),0.141174,0.0833,rs8875,0.51(T),0.008(B),0.895(L),-1.0160(T),,chr11,77790655,77790655,G,C,het,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu46Val/c.136C>G|134|NDUFC2-KCTD14|protein_coding|CODING|NM_001203260.1|1|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu46Val/c.136C>G|114|NDUFC2-KCTD14|protein_coding|CODING|NM_001203261.1|1|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu46Val/c.136C>G|86|NDUFC2-KCTD14|protein_coding|CODING|NM_001203262.1|1|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu46Val/c.136C>G|88|NDUFC2|protein_coding|CODING|NM_001204054.1|1|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu46Val/c.136C>G|96|NDUFC2|protein_coding|CODING|NM_001204055.1|1|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu46Val/c.136C>G|119|NDUFC2|protein_coding|CODING|NM_004549.5|1|1),intron_variant(MODIFIER|||n.22-25796C>G||RNU6-83P||NON_CODING|NR_046948.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.1943,0.2061,0.2306,0.17,0.07,0.22,,0.621680(N),1.000(P),"0.91,0.91,0.91,0.91,0.91,0.91,0.91(T,T,T,T,T,T,T)",0.0000(T),0.077,1.058794,4.79,-0.889,-1.547000,0.052000,0.066000,0.000000,0.002000,0.103000,1.3547
missense_variant,ALG8,MISSENSE,NM_024079.4:p.Ile439Thr/c.1316T>C,aTa/aCa,MODERATE,,0.00958466,0,rs17825668,0.23(T),"0.043,0.219,0.243(B,B,B)",1.48(L),-1.0843(T),,chr11,77815059,77815059,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile439Thr/c.1316T>C|467|ALG8|protein_coding|CODING|NM_001007027.2|12|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile439Thr/c.1316T>C|526|ALG8|protein_coding|CODING|NM_024079.4|12|1),intron_variant(MODIFIER|||n.21+15742T>C||RNU6-83P||NON_CODING|NR_046948.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0144,0.0348,0.03,0.00,0.04,,0.011838(N),0.998(N),"-2.03,-2.03,-2.03(D,D,D)",0.0318(T),0.401,2.975229,5.66,3.3,0.533000,0.399000,2.569000,0.836000,0.995000,0.444000,9.5721
missense_variant,ALG8,MISSENSE,NM_024079.4:p.Asn222Ser/c.665A>G,aAt/aGt,MODERATE,COSM3752755(2),0.146366,0.0942,rs386604142,,,1.01(L),-1.1004(T),,chr11,77825320,77825320,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn222Ser/c.665A>G|467|ALG8|protein_coding|CODING|NM_001007027.2|6|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn222Ser/c.665A>G|526|ALG8|protein_coding|CODING|NM_024079.4|6|1),intron_variant(MODIFIER|||n.21+5481A>G||RNU6-83P||NON_CODING|NR_046948.1|1|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082158.1,,0.2157,0.2003,0.2286,0.18,0.07,0.23,,,0.774(P),,0.0001(T),.,-0.269072,5.43,1.56,0.383000,0.064000,0.541000,0.989000,0.996000,1.000000,5.0202
missense_variant,USP35,MISSENSE,NM_020798.2:p.Val236Met/c.706G>A,Gtg/Atg,MODERATE,,0.204073,0.3591,rs2510044,0.01(D),0.862(P),1.525(L),-1.0092(T),,chr11,77909014,77909014,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val236Met/c.706G>A|1018|USP35|protein_coding|CODING|NM_020798.2|3|1),"CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2597,0.2968,0.1561,0.10,0.04,0.14,,0.060547(N),0.000(P),0.87(T),0.0000(T),0.385,1.745434,4.82,4.82,0.561000,2.506000,5.378000,0.090000,0.992000,1.000000,18.1059
synonymous_variant,USP35,SILENT,NM_020798.2:p.Pro554Pro/c.1662G>T,ccG/ccT,LOW,,0.26278,0.3968,rs2510045,,,,,,chr11,77920563,77920563,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro554Pro/c.1662G>T|1018|USP35|protein_coding|CODING|NM_020798.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2658,0.3156,0.1779,0.16,0.17,0.16,,,,,,,,,,,,,,,,
synonymous_variant,USP35,SILENT,NM_020798.2:p.Pro654Pro/c.1962C>A,ccC/ccA,LOW,,0.217652,0.4028,rs2512527,,,,,,chr11,77920863,77920863,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro654Pro/c.1962C>A|1018|USP35|protein_coding|CODING|NM_020798.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2454,0.2997,0.1551,0.11,0.06,0.13,,,,,,,,,,,,,,,,
missense_variant,USP35,MISSENSE,NM_020798.2:p.Ile677Val/c.2029A>G,Ata/Gta,MODERATE,COSM3752756(2),0.35004,0.4087,rs2511188,0.59(T),"0.0,0.0(B,B)",-0.065(N),-0.9167(T),,chr11,77920930,77920930,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile677Val/c.2029A>G|1018|USP35|protein_coding|CODING|NM_020798.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2822,0.3501,0.2356,0.26,0.40,0.20,,0.142834(N),1.000(P),"3.33,3.47,3.47,3.31(T,T,T,T)",0.0000(T),0.04,-0.532275,5.18,4.24,-0.119000,0.737000,0.431000,0.004000,0.003000,0.000000,7.0124
missense_variant,USP35,MISSENSE,NM_020798.2:p.Ala876Pro/c.2626G>C,Gct/Cct,MODERATE,,0.849042,0.6558,rs2512526,1(T),"0.0,0.012(B,B)",-0.48(N),-0.9811(T),,chr11,77921527,77921527,G,C,hom,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala876Pro/c.2626G>C|1018|USP35|protein_coding|CODING|NM_020798.2|10|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.681,0.9207,0.9602,0.97,0.99,0.96,,0.073473(N),1.000(P),"3.13,3.38,2.6,3.26(T,T,T,T)",0.0000(T),0.048,-0.250353,4.69,1.51,-0.322000,0.193000,-0.362000,0.680000,0.077000,0.000000,4.4736
synonymous_variant,GAB2,SILENT,NM_080491.2:p.Ser668Ser/c.2004A>G,tcA/tcG,LOW,COSM3752760(1),0.264577,0.3978,rs2450122,,,,,,chr11,77930345,77930345,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser630Ser/c.1890A>G|638|GAB2|protein_coding|CODING|NM_012296.3|10|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser668Ser/c.2004A>G|676|GAB2|protein_coding|CODING|NM_080491.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2689,0.3156,0.1779,0.17,0.18,0.16,,,,,,,,,,,,,,,,
synonymous_variant,GAB2,SILENT,NM_080491.2:p.Val430Val/c.1290T>C,gtT/gtC,LOW,,0.346246,0.4008,rs1385600,,,,,,chr11,77936166,77936166,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val392Val/c.1176T>C|638|GAB2|protein_coding|CODING|NM_012296.3|5|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val430Val/c.1290T>C|676|GAB2|protein_coding|CODING|NM_080491.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2679,0.3357,0.1829,0.25,0.43,0.16,,,,,,,,,,,,,,,,
synonymous_variant,GAB2,SILENT,NM_080491.2:p.Phe306Phe/c.918C>T,ttC/ttT,LOW,COSM3749191(3),0.315895,0.3978,rs2248407,,,,,,chr11,77937800,77937800,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe268Phe/c.804C>T|638|GAB2|protein_coding|CODING|NM_012296.3|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe306Phe/c.918C>T|676|GAB2|protein_coding|CODING|NM_080491.2|4|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.2648,0.3285,0.1789,0.22,0.34,0.16,,,,,,,,,,,,,,,,
synonymous_variant,NARS2,SILENT,NM_024678.5:p.Tyr138Tyr/c.414T>C,taT/taC,LOW,,0.650559,0.5794,rs10751296,,,,,,chr11,78277277,78277277,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr138Tyr/c.414T>C|477|NARS2|protein_coding|CODING|NM_024678.5|4|1),5_prime_UTR_variant(MODIFIER||37382|c.-268T>C|250|NARS2|protein_coding|CODING|NM_001243251.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7086,0.6023,0.7664,0.73,0.62,0.79,,,,,,,,,,,,,,,,
missense_variant,NARS2,MISSENSE,NM_024678.5:p.Asn87Thr/c.260A>C,aAt/aCt,MODERATE,COSM3931450(1),0.710064,0.6012,rs10501429,1(T),0.0(B),-1.52(N),-0.9554(T),,chr11,78279790,78279790,T,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aCt|p.Asn87Thr/c.260A>C|477|NARS2|protein_coding|CODING|NM_024678.5|3|1),5_prime_UTR_variant(MODIFIER||39895|c.-422A>C|250|NARS2|protein_coding|CODING|NM_001243251.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.6182,0.7694,0.79,0.78,0.80,,0.038550(N),0.000(P),"2.07,2.07(T,T)",0.0000(T),0.114,-0.712658,5.37,4.45,-0.127000,0.638000,1.732000,0.381000,0.825000,0.994000,13.6717
synonymous_variant,TENM4,SILENT,NM_001098816.2:p.Leu2503Leu/c.7509C>T,ctC/ctT,LOW,COSM4146355(2),0.38119,0.1895,rs2277277,,,,,,chr11,78372536,78372536,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu2503Leu/c.7509C>T|2769|TENM4|protein_coding|CODING|NM_001098816.2|33|1),"GM06990:H3K27me3,GM12878:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3988,0.428,0.672,0.55,0.31,0.67,,,,,,,,,,,,,,,,
synonymous_variant,TENM4,SILENT,NM_001098816.2:p.Ile971Ile/c.2913C>T,atC/atT,LOW,,0.121006,0.0833,rs17826919,,,,,,chr11,78443586,78443586,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile971Ile/c.2913C>T|2769|TENM4|protein_coding|CODING|NM_001098816.2|21|1),"IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1196,0.1758,0.2535,0.19,0.06,0.25,,,,,,,,,,,,,,,,
synonymous_variant,TENM4,SILENT,NM_001098816.2:p.Cys821Cys/c.2463C>T,tgC/tgT,LOW,,0.028155,0.001,rs34863597,,,,-1.1352(T),,chr11,78482113,78482113,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys821Cys/c.2463C>T|2769|TENM4|protein_coding|CODING|NM_001098816.2|18|1),"GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0194,0.0432,0.0845,0.07,0.01,0.09,,,1.000(D),,0.0120(T),.,1.504658,5.51,2.34,0.561000,0.826000,2.271000,0.998000,1.000000,1.000000,9.1994
missense_variant,FAM181B,MISSENSE,NM_175885.3:p.Arg367Pro/c.1100G>C,cGg/cCg,MODERATE,COSM3752770(2),0.639976,0.6319,rs6592081,,0.0(B),-0.695(N),-1.0165(T),,chr11,82443672,82443672,C,G,het,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg367Pro/c.1100G>C|426|FAM181B|protein_coding|CODING|NM_175885.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.636,0.5764,0.3608,0.42,0.64,0.32,,0.045345(N),1.000(P),1.58(T),0.0000(T),0.049,-0.941794,5.27,3.26,-0.216000,0.610000,1.620000,0.827000,0.002000,0.136000,14.2854
synonymous_variant,FAM181B,SILENT,NM_175885.3:p.Leu319Leu/c.955C>T,Ctg/Ttg,LOW,COSM3752771(3),0.228834,0.497,rs2291793,,,,,,chr11,82443817,82443817,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu319Leu/c.955C>T|426|FAM181B|protein_coding|CODING|NM_175885.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2331,0.2262,0.172,0.08,0.04,0.10,,,,,,,,,,,,,,,,
missense_variant,FAM181B,MISSENSE,NM_175885.3:p.Ser251Arg/c.751A>C,Agc/Cgc,MODERATE,COSM3749192(3),0.229034,0.497,rs66918959,,0.316(B),0.805(L),-0.9433(T),,chr11,82444021,82444021,T,G,het,missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser251Arg/c.751A>C|426|FAM181B|protein_coding|CODING|NM_175885.3|1|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.2342,0.2262,0.172,0.12,0.07,0.14,,0.015963(U),0.944(P),1.34(T),0.0000(T),0.047,2.733964,4.36,1.98,-0.695000,0.515000,1.662000,0.944000,0.994000,0.951000,2.3624
missense_variant,FAM181B,MISSENSE,NM_175885.3:p.Val186Leu/c.556G>C,Gtg/Ctg,MODERATE,COSM4146373(1),0.445288,0.627,rs986097,,0.001(B),0.55(N),-0.9768(T),,chr11,82444216,82444216,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val186Leu/c.556G>C|426|FAM181B|protein_coding|CODING|NM_175885.3|1|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.5828,0.5086,0.3151,,,,,0.277421(U),1.000(P),1.53(T),0.0000(T),0.095,-0.143168,3.66,1.52,0.462000,0.465000,0.000000,0.072000,0.040000,0.977000,6.5127
synonymous_variant,FAM181B,SILENT,NM_175885.3:p.Ala182Ala/c.546G>T,gcG/gcT,LOW,COSM4146374(1),0.311102,0.5486,rs986096,,,,,,chr11,82444226,82444226,C,A,het,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala182Ala/c.546G>T|426|FAM181B|protein_coding|CODING|NM_175885.3|1|1),"K562:H3K4me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.3241,0.2666,0.2038,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRCP,SILENT,NM_199418.2:p.Ala513Ala/c.1539G>A,gcG/gcA,LOW,COSM3752774(1),0.196486,0.5496,rs4759,,,,,,chr11,82535963,82535963,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala492Ala/c.1476G>A|496|PRCP|protein_coding|CODING|NM_005040.2|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala513Ala/c.1539G>A|517|PRCP|protein_coding|CODING|NM_199418.2|10|1)","HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.2485,0.1124,0.0726,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,CCDC90B,SILENT,NM_021825.4:p.Ser238Ser/c.714G>A,tcG/tcA,LOW,COSM3752782(2),0.46865,0.3502,rs8789,,,,-0.9719(T),,chr11,82973004,82973004,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser229Ser/c.687G>A|245|CCDC90B|protein_coding|CODING|NM_001286116.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser137Ser/c.411G>A|153|CCDC90B|protein_coding|CODING|NM_001286117.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser140Ser/c.420G>A|156|CCDC90B|protein_coding|CODING|NM_001286118.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser140Ser/c.420G>A|156|CCDC90B|protein_coding|CODING|NM_001286119.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser123Ser/c.369G>A|139|CCDC90B|protein_coding|CODING|NM_001286120.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser238Ser/c.714G>A|254|CCDC90B|protein_coding|CODING|NM_021825.4|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.3285,0.4056,0.47,0.59,0.41,,,0.000(P),0.93(T),0.0000(T),.,2.507009,5.19,-10.4,-1.090000,-1.470000,-2.556000,0.717000,0.871000,0.009000,5.2364
missense_variant,CCDC90B,MISSENSE,NM_021825.4:p.Phe10Leu/c.30T>G,ttT/ttG,MODERATE,COSM4146380(1),0.677716,0.5794,rs494791,,0.0(B),-1.725(N),-1.0193(T),,chr11,82996986,82996986,A,C,het,"missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe10Leu/c.30T>G|254|CCDC90B|protein_coding|CODING|NM_021825.4|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||153|CCDC90B|protein_coding|CODING|NM_001286117.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||156|CCDC90B|protein_coding|CODING|NM_001286118.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||156|CCDC90B|protein_coding|CODING|NM_001286119.1|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||139|CCDC90B|protein_coding|CODING|NM_001286120.1|1|1),5_prime_UTR_variant(MODIFIER||7197|c.-594T>G|153|CCDC90B|protein_coding|CODING|NM_001286117.1|1|1),5_prime_UTR_variant(MODIFIER||5773|c.-161T>G|156|CCDC90B|protein_coding|CODING|NM_001286118.1|1|1),5_prime_UTR_variant(MODIFIER||5773|c.-246T>G|156|CCDC90B|protein_coding|CODING|NM_001286119.1|1|1),5_prime_UTR_variant(MODIFIER||11224|c.-92T>G|139|CCDC90B|protein_coding|CODING|NM_001286120.1|1|1),intron_variant(MODIFIER|||c.73+157T>G|245|CCDC90B|protein_coding|CODING|NM_001286116.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,IMR90:H4K5ac,HUVEC:H3K9ac,GM12878:SIX5,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HepG2:HNF4A,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.6503,0.4813,0.673,0.74,0.84,0.68,,0.000735(N),0.874(P),"1.88,1.9(T,T)",0.0000(T),0.318,0.023882,5.28,-1.9,-1.155000,-0.199000,-1.228000,0.001000,0.000000,0.000000,9.1298
synonymous_variant,SYTL2,SILENT,NM_001162953.2:p.Ser173Ser/c.519A>G,tcA/tcG,LOW,,0.653954,0.6171,rs680498,,,,,,chr11,85447611,85447611,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser172Ser/c.516A>G|934|SYTL2|protein_coding|CODING|NM_001162951.2|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser124Ser/c.372A>G|902|SYTL2|protein_coding|CODING|NM_001289608.1|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser172Ser/c.516A>G|910|SYTL2|protein_coding|CODING|NM_032943.4|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser173Ser/c.519A>G|935|SYTL2|protein_coding|CODING|NM_001162953.2|5|1)","HUVEC:DNase1,HUVEC:H3K4me2",,,,0.5235,0.5677,0.6551,0.70,0.79,0.66,,,,,,,,,,,,,,,,
synonymous_variant,SYTL2,SILENT,NM_001162953.2:p.Glu122Glu/c.366A>G,gaA/gaG,LOW,,0.546725,0.6141,rs647912,,,,,,chr11,85456703,85456703,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu122Glu/c.366A>G|934|SYTL2|protein_coding|CODING|NM_001162951.2|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu122Glu/c.366A>G|935|SYTL2|protein_coding|CODING|NM_001162953.2|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu74Glu/c.222A>G|902|SYTL2|protein_coding|CODING|NM_001289608.1|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu122Glu/c.366A>G|910|SYTL2|protein_coding|CODING|NM_032943.4|4|1)","CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,CD4:H4K5ac",,,,0.5102,0.5029,0.6342,0.59,0.51,0.63,,,,,,,,,,,,,,,,
synonymous_variant,CCDC83,SILENT,NM_173556.4:p.Ser335Ser/c.1005T>C,agT/agC,LOW,,0.125998,0,rs7927222,,,,-1.0422(T),,chr11,85627108,85627108,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser304Ser/c.912T>C|413|CCDC83|protein_coding|CODING|NM_001286159.1|10|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser335Ser/c.1005T>C|444|CCDC83|protein_coding|CODING|NM_173556.4|11|1)",HUVEC:H3K27me3,,,,0.0757,0.1585,0.2604,0.21,0.15,0.24,,,1.000(P),,0.0000(T),.,0.165049,5.17,-10.3,-0.468000,-1.808000,-1.837000,0.000000,0.000000,0.000000,4.5566
missense_variant,CCDC83,MISSENSE,NM_173556.4:p.Pro398Leu/c.1193C>T,cCc/cTc,MODERATE,,0.0764776,0.0655,rs12805520,,"0.99,0.982,0.982(D,D,D)",2.535(M),-1.1188(T),,chr11,85630411,85630411,C,T,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro367Leu/c.1100C>T|413|CCDC83|protein_coding|CODING|NM_001286159.1|11|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro398Leu/c.1193C>T|444|CCDC83|protein_coding|CODING|NM_173556.4|12|1)","HUVEC:H3K27me3,HepG2:H3K27ac,NHEK:H3K27me3",,,,0.1022,0.1196,0.1272,0.09,0.03,0.13,,0.000066(D),0.000(P),"0.85,0.85,0.85(T,T,T)",0.0026(T),0.851,4.392939,5.62,5.62,0.650000,2.822000,3.691000,0.882000,1.000000,0.438000,15.5281
synonymous_variant,PICALM,SILENT,NM_007166.3:p.Ala590Ala/c.1770T>G,gcT/gcG,LOW,,0.622804,0.6577,rs76719109,,,,-0.9341(T),,chr11,85692181,85692181,A,C,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala540Ala/c.1620T>G|610|PICALM|protein_coding|CODING|NM_001008660.2|16|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala583Ala/c.1749T>G|645|PICALM|protein_coding|CODING|NM_001206946.1|17|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala489Ala/c.1467T>G|551|PICALM|protein_coding|CODING|NM_001206947.1|16|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala590Ala/c.1770T>G|652|PICALM|protein_coding|CODING|NM_007166.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6677,0.585,0.5875,0.60,0.62,0.60,,,0.000(P),,0.0000(T),.,1.440820,5.51,3.17,0.477000,1.010000,2.399000,0.997000,1.000000,1.000000,5.7025
synonymous_variant,PICALM,SILENT,NM_007166.3:p.Gln174Gln/c.522G>A,caG/caA,LOW,,0.788738,0.6815,rs592297,,,,,,chr11,85725937,85725937,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln174Gln/c.522G>A|610|PICALM|protein_coding|CODING|NM_001008660.2|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln174Gln/c.522G>A|645|PICALM|protein_coding|CODING|NM_001206946.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln123Gln/c.369G>A|551|PICALM|protein_coding|CODING|NM_001206947.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln174Gln/c.522G>A|652|PICALM|protein_coding|CODING|NM_007166.3|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7372,0.7334,0.8171,0.83,0.89,0.80,,,,,,,,,,,,,,,,
synonymous_variant,ME3,SILENT,NM_001014811.1:p.Leu143Leu/c.429G>A,ctG/ctA,LOW,,0.275559,0.5317,rs17211115,,,,,,chr11,86267633,86267633,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu143Leu/c.429G>A|604|ME3|protein_coding|CODING|NM_001014811.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu143Leu/c.429G>A|604|ME3|protein_coding|CODING|NM_001161586.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu143Leu/c.429G>A|604|ME3|protein_coding|CODING|NM_006680.2|4|1)",GM12878:H3K36me3,,,,0.1708,0.3487,0.1799,0.17,0.19,0.17,,,,,,,,,,,,,,,,
synonymous_variant,ME3,SILENT,NM_001014811.1:p.Arg116Arg/c.348G>T,cgG/cgT,LOW,COSM3998615(1),0.276158,0.5327,rs12287767,,,,,,chr11,86267714,86267714,C,A,het,"synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg116Arg/c.348G>T|604|ME3|protein_coding|CODING|NM_001014811.1|3|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg116Arg/c.348G>T|604|ME3|protein_coding|CODING|NM_001161586.1|4|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg116Arg/c.348G>T|604|ME3|protein_coding|CODING|NM_006680.2|4|1)",GM12878:H3K36me3,,,,0.1728,0.3487,0.1799,0.17,0.19,0.17,,,,,,,,,,,,,,,,
missense_variant,TMEM135,MISSENSE,NM_022918.3:p.Gly218Arg/c.652G>A,Gga/Aga,MODERATE,,0.582867,0.4425,rs2276102,,"0.0,0.001(B,B)",0.55(N),-0.9648(T),,chr11,87013438,87013438,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly196Arg/c.586G>A|436|TMEM135|protein_coding|CODING|NM_001168724.1|7|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly218Arg/c.652G>A|458|TMEM135|protein_coding|CODING|NM_022918.3|8|1),non_coding_exon_variant(MODIFIER|||n.820G>A||TMEM135||CODING|NR_033149.1|7|1)",HepG2:H3K36me3,,,,0.7025,0.5086,0.6511,0.66,0.60,0.69,,0.000000(N),0.000(P),"1.06,1.07,1.06,1.07(T,T,T,T)",0.0000(T),0.14,-1.968483,5.45,4.31,-0.254000,0.443000,2.495000,0.057000,0.664000,0.982000,5.7486
synonymous_variant,RAB38,SILENT,NM_022337.2:p.Ser35Ser/c.105T>C,tcT/tcC,LOW,COSM3752797(3),0.745607,0.6012,rs302646,,,,-1.0049(T),,chr11,87908448,87908448,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser35Ser/c.105T>C|211|RAB38|protein_coding|CODING|NM_022337.2|1|1),"H1ESC:PolII,CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,NHEK:H3K4me2,HMEC:DNase1,GM12878:DNase1,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6748,0.7752,0.8718,0.84,0.80,0.86,,,0.000(P),,0.0000(T),.,1.773367,5.1,2.16,-0.735000,0.048000,1.058000,0.952000,0.998000,1.000000,7.172
missense_variant,CTSC,MISSENSE,NM_001814.4:p.Ile153Thr/c.458T>C,aTa/aCa,MODERATE,COSM3752799(1),0.930911,0.999,rs217086,,0.0(B),-1.87(N),-0.9405(T),,chr11,88045583,88045583,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile153Thr/c.458T>C|463|CTSC|protein_coding|CODING|NM_001814.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9581,0.9251,0.8479,0.86,0.91,0.84,,0.019517(N),1.000(P),-0.42(T),0.0000(T),0.333,0.322871,5.97,-9.46,-0.726000,-2.143000,-0.617000,0.001000,0.000000,0.000000,12.5115
synonymous_variant,GRM5,SILENT,NM_001143831.2:p.Gly1125Gly/c.3375A>C,ggA/ggC,LOW,COSM4146402(2),0.969449,0.999,rs2941563,,,,,,chr11,88242024,88242024,T,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1093Gly/c.3279A>C|1180|GRM5|protein_coding|CODING|NM_000842.4|9|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1125Gly/c.3375A>C|1212|GRM5|protein_coding|CODING|NM_001143831.2|9|1),non_coding_exon_variant(MODIFIER|||n.4281T>G||GRM5-AS1||NON_CODING|NR_049724.1|1|1)","H1ESC:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2",,,,0.9847,0.964,0.9314,0.94,0.96,0.93,,,,,,,,,,,,,,,,
missense_variant,TYR,MISSENSE,NM_000372.4:p.Ser192Tyr/c.575C>A,tCt/tAt,MODERATE,COSM430000(1),0.123403,0.001,rs1042602,,0.974(D),2.135(M),-1.7843(T),,chr11,88911696,88911696,C,A,het,missense_variant(MODERATE|MISSENSE|tCt/tAt|p.Ser192Tyr/c.575C>A|529|TYR|protein_coding|CODING|NM_000372.4|1|1),,"Freckles,Skin_pigmentation",RCV000003977.3|RCV000055807.1|RCV000085955.1,,0.0634,0.2378,0.3718,0.27,0.08,0.38,,0.000008(D),1.000(P),-5.1(D),0.0001(T),0.455,3.275960,6.07,6.07,0.655000,2.885000,4.436000,0.775000,0.028000,0.660000,15.3849
missense_variant,NOX4,MISSENSE,NM_001291927.1:p.Met336Ile/c.1008G>A,atG/atA,MODERATE,,0.997404,1,rs317139,,"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.975(N),-0.9578(T),,chr11,89133449,89133449,C,T,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met315Ile/c.945G>A|538|NOX4|protein_coding|CODING|NM_001143836.2|10|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met291Ile/c.873G>A|554|NOX4|protein_coding|CODING|NM_001143837.1|13|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met241Ile/c.723G>A|504|NOX4|protein_coding|CODING|NM_001291926.1|10|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met336Ile/c.1008G>A|599|NOX4|protein_coding|CODING|NM_001291927.1|10|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met290Ile/c.870G>A|553|NOX4|protein_coding|CODING|NM_001291929.1|9|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met291Ile/c.873G>A|514|NOX4|protein_coding|CODING|NM_001300995.1|10|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met315Ile/c.945G>A|578|NOX4|protein_coding|CODING|NM_016931.4|10|1)",,,,,0.9969,0.9928,0.995,0.99,1.00,0.99,,0.000018(N),0.000(P),"-2.93,-2.93,-2.93,-2.93,-2.93,-2.93,-2.93,-2.93,-2.93,-2.93,-2.93(D,D,D,D,D,D,D,D,D,D,D)",0.0000(T),0.162,0.370810,5.39,-2.82,-0.361000,-0.593000,-0.021000,0.961000,0.096000,0.964000,4.3581
missense_variant,NOX4,MISSENSE,NM_001291927.1:p.Arg14Ser/c.40C>A,Cgt/Agt,MODERATE,,0.420327,0.3423,rs3816123,,,,-0.9559(T),,chr11,89224101,89224101,G,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg14Ser/c.40C>A|599|NOX4|protein_coding|CODING|NM_001291927.1|1|1),upstream_gene_variant(MODIFIER||192||553|NOX4|protein_coding|CODING|NM_001291929.1||1),intron_variant(MODIFIER|||c.57+257C>A|538|NOX4|protein_coding|CODING|NM_001143836.2|1|1),intron_variant(MODIFIER|||c.-162+257C>A|504|NOX4|protein_coding|CODING|NM_001291926.1|1|1),intron_variant(MODIFIER|||c.57+257C>A|578|NOX4|protein_coding|CODING|NM_016931.4|1|1),intron_variant(MODIFIER|||n.376+257C>A||NOX4||CODING|NR_120406.1|1|1),intron_variant(MODIFIER|||c.-15-380C>A|554|NOX4|protein_coding|CODING|NM_001143837.1|4|1),intron_variant(MODIFIER|||c.-15-380C>A|514|NOX4|protein_coding|CODING|NM_001300995.1|1|1)","IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HMEC:H3K27me3,HUVEC:H3K4me2,NHEK:H3K27me3,HUVEC:H3K27ac,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.5112,0.5663,0.6799,,,,,,1.000(P),-3.62(D),0.0000(T),0.04,-1.214278,3.77,1.27,-0.525000,0.024000,-0.252000,0.183000,0.000000,0.000000,4.3506
missense_variant,FOLH1B,MISSENSE,NM_153696.2:p.Asn151Lys/c.453C>G,aaC/aaG,MODERATE,COSM3752801(1),0.225639,0.1319,rs10830339,,,,,,chr11,89413781,89413781,C,G,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn151Lys/c.453C>G|442|FOLH1B|protein_coding|CODING|NM_153696.2|8|1),,,,,0.2423,0.2478,0.3718,0.32,0.21,0.37,,,,,,,,,,,,,,,,
synonymous_variant,TRIM77,SILENT,NM_001146162.1:p.Leu114Leu/c.342A>C,ctA/ctC,LOW,COSN164018,0.259585,0.3264,rs11018745,,,,,,chr11,89443808,89443808,A,C,het,"synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu114Leu/c.342A>C|450|TRIM77|protein_coding|CODING|NM_001146162.1|1|1),synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu114Leu/c.342A>C|373|TRIM77|protein_coding|CODING|NM_001271942.1|1|1)",,,,,0.2485,0.281,0.3738,,,,,,,,,,,,,,,,,,,
missense_variant,TRIM49,MISSENSE,NM_020358.2:p.Gly373Arg/c.1117G>A,Gga/Aga,MODERATE,COSM147302(3),0.273962,0.3958,rs111874476,,0.703(P),0.465(N),-1.0450(T),,chr11,89531540,89531540,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly373Arg/c.1117G>A|452|TRIM49|protein_coding|CODING|NM_020358.2|8|1),,,,,0.2495,0.33,0.3827,0.31,0.16,0.38,,,1.000(P),-0.29(T),0.0000(T),0.058,0.933832,1.04,-1.8,0.194000,-0.534000,-0.015000,0.014000,0.000000,0.000000,1.806
missense_variant,TRIM49C,MISSENSE,NM_001195234.1:p.His293Asp/c.877C>G,Cat/Gat,MODERATE,COSM3810617(2),,,rs74584169,,0.009(B),1.245(L),-0.9391(T),,chr11,89774236,89774236,C,G,het,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His293Asp/c.877C>G|452|TRIM49C|protein_coding|CODING|NM_001195234.1|8|1),,,,,,,,,,,,,1.000(P),0.17(T),0.0000(T),0.299,-0.591968,0.823,0.823,0.305000,0.742000,-1.205000,0.015000,0.001000,0.000000,4.9575
synonymous_variant,TRIM49C,SILENT,NM_001195234.1:p.His346His/c.1038T>C,caT/caC,LOW,COSM3810619(3),,,rs150273819,,,,,,chr11,89774397,89774397,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His346His/c.1038T>C|452|TRIM49C|protein_coding|CODING|NM_001195234.1|8|1),,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRIM49C,SILENT,NM_001195234.1:p.Lys363Lys/c.1089G>A,aaG/aaA,LOW,COSM3747903(3),0.46246,0.4603,rs77759231,,,,,,chr11,89774448,89774448,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys363Lys/c.1089G>A|452|TRIM49C|protein_coding|CODING|NM_001195234.1|8|1),,,,,0.4611,0.5058,0.3519,,,,,,,,,,,,,,,,,,,
synonymous_variant,NAALAD2,SILENT,NM_005467.3:p.Thr37Thr/c.111G>A,acG/acA,LOW,COSM147303(1),0.510783,0.4177,rs10734123,,,,,,chr11,89868755,89868755,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr37Thr/c.111G>A|707|NAALAD2|protein_coding|CODING|NM_001300930.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr37Thr/c.111G>A|740|NAALAD2|protein_coding|CODING|NM_005467.3|2|1)","GM12878:H3K27me3,HMEC:H3K27me3,HUVEC:H3K4me2,NHEK:H3K27me3",,,,0.5061,0.5389,0.3648,0.44,0.60,0.35,,,,,,,,,,,,,,,,
missense_variant,CHORDC1,MISSENSE,NM_012124.2:p.Ala329Asp/c.986C>A,gCc/gAc,MODERATE,,0.610423,0.6756,rs1045861,,"0.002,0.0(B,B)",-0.69(N),-0.9297(T),,chr11,89935586,89935586,G,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala310Asp/c.929C>A|313|CHORDC1|protein_coding|CODING|NM_001144073.1|10|1),missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala329Asp/c.986C>A|332|CHORDC1|protein_coding|CODING|NM_012124.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7474,0.6542,0.6958,0.60,0.41,0.70,,0.806057(N),0.000(P),"0.96,0.95,0.95,0.95(T,T,T,T)",0.0000(T),0.024,-1.133751,5.24,4.08,-0.262000,0.292000,1.500000,0.172000,0.718000,0.036000,11.064
missense_variant,FAT3,MISSENSE,NM_001008781.2:p.Ser412Phe/c.1235C>T,tCt/tTt,MODERATE,,0.0547125,0.001,rs10830902,0.08(T),0.277(B),1.39(L),-1.0386(T),,chr11,92086513,92086513,C,T,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser412Phe/c.1235C>T|4557|FAT3|protein_coding|CODING|NM_001008781.2|1|1),,,,,0.0041,0.0389,0.0437,0.08,0.14,0.06,,,0.009(P),"0.12,0.12,0.12,0.12(T,T,T,T)",0.0015(T),0.215,2.461566,5.62,4.7,0.655000,1.342000,2.069000,0.932000,0.454000,0.073000,8.6092
synonymous_variant,FAT3,SILENT,NM_001008781.2:p.Gln457Gln/c.1371G>A,caG/caA,LOW,,0.0503195,0.001,rs10830903,,,,,,chr11,92086649,92086649,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln457Gln/c.1371G>A|4557|FAT3|protein_coding|CODING|NM_001008781.2|1|1),,,,,0.0041,0.036,0.0437,0.08,0.12,0.06,,,,,,,,,,,,,,,,
synonymous_variant,FAT3,SILENT,NM_001008781.2:p.Leu967Leu/c.2899C>T,Ctg/Ttg,LOW,COSM1357726(2),0.351038,0.1746,rs7479732,,,,,,chr11,92088177,92088177,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu967Leu/c.2899C>T|4557|FAT3|protein_coding|CODING|NM_001008781.2|1|1),NHEK:H3K27me3,,,,0.1881,0.1801,0.2038,0.36,0.67,0.22,,,,,,,,,,,,,,,,
missense_variant,FAT3,MISSENSE,NM_001008781.2:p.Gln1726Arg/c.5177A>G,cAg/cGg,MODERATE,,0.769768,0.755,rs7949157,0.53(T),0.001(B),0.475(N),-1.0043(T),,chr11,92531356,92531356,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1726Arg/c.5177A>G|4557|FAT3|protein_coding|CODING|NM_001008781.2|9|1),"H1ESC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.7975,0.8516,0.8598,0.80,0.69,0.85,,,1.000(P),"0.75,0.75,0.75(T,T,T)",0.0000(T),0.051,0.361503,5.93,0.257,-0.186000,-0.055000,2.275000,0.648000,0.000000,0.708000,10.0706
synonymous_variant,FAT3,SILENT,NM_001008781.2:p.Pro2166Pro/c.6498T>C,ccT/ccC,LOW,COSM3721776(1),0.799321,0.755,rs12362722,,,,,,chr11,92532677,92532677,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2166Pro/c.6498T>C|4557|FAT3|protein_coding|CODING|NM_001008781.2|9|1),H1ESC:H3K36me3,,,,0.7863,0.8559,0.8509,0.83,0.80,0.84,,,,,,,,,,,,,,,,
missense_variant,FAT3,MISSENSE,NM_001008781.2:p.Ile2755Val/c.8263A>G,Ata/Gta,MODERATE,,0.85643,0.9544,rs3847531,0.9(T),0.0(B),-0.02(N),-0.9567(T),,chr11,92534442,92534442,A,G,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile2755Val/c.8263A>G|4557|FAT3|protein_coding|CODING|NM_001008781.2|9|1),"H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.9049,0.866,0.8708,0.82,0.75,0.85,,,0.000(P),"0.18,0.18,0.18(T,T,T)",0.0000(T),0.031,-1.481865,5.74,4.8,-0.186000,0.757000,2.014000,0.644000,0.561000,0.989000,9.1757
missense_variant,FAT3,MISSENSE,NM_001008781.2:p.Ser3812Gly/c.11434A>G,Agt/Ggt,MODERATE,,0.828474,0.6706,rs4753069,0.57(T),"0.0,0.0(B,B)",-0.6(N),-1.0078(T),,chr11,92590448,92590448,A,G,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser3812Gly/c.11434A>G|4557|FAT3|protein_coding|CODING|NM_001008781.2|19|1),NHEK:H3K27me3,,,,0.908,0.7968,0.8121,0.84,0.91,0.81,,,0.000(P),"1.64,1.64,1.64,1.64(T,T,T,T)",0.0000(T),0.046,0.008696,5.95,4.1,-1.551000,0.446000,2.301000,0.944000,0.419000,0.995000,11.5604
synonymous_variant,FAT3,SILENT,NM_001008781.2:p.Pro4424Pro/c.13272G>A,ccG/ccA,LOW,,0.226238,0.2381,rs12277422,,,,,,chr11,92623877,92623877,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro4424Pro/c.13272G>A|4557|FAT3|protein_coding|CODING|NM_001008781.2|25|1),,,,,0.1605,0.2954,0.2455,0.24,0.22,0.25,,,,,,,,,,,,,,,,
missense_variant,MTNR1B,MISSENSE,NM_005959.3:p.Gly24Glu/c.71G>A,gGg/gAg,MODERATE,COSM3749195(3),0.0648962,0.004,rs8192552,0.27(T),0.003(B),0.69(N),-1.0250(T),,chr11,92702962,92702962,G,A,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly24Glu/c.71G>A|362|MTNR1B|protein_coding|CODING|NM_005959.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.0859,0.0461,0.0666,0.07,0.08,0.07,,0.742000(N),1.000(P),-0.69(T),0.0026(T),0.14,1.462149,4.36,0.122,-0.384000,0.266000,0.676000,0.002000,0.003000,0.069000,4.9023
missense_variant,CCDC67,MISSENSE,NM_181645.3:p.Gln504Lys/c.1510C>A,Caa/Aaa,MODERATE,COSM3931463(1),0.829473,0.9018,rs2259633,1(T),0.0(B),-1.1(N),-1.0013(T),,chr11,93141580,93141580,C,A,hom,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln504Lys/c.1510C>A|604|CCDC67|protein_coding|CODING|NM_181645.3|12|1),,,,,0.7914,0.8602,0.7753,0.79,0.82,0.78,,0.569635(N),0.000(P),"2.43,2.43,2.43(T,T,T)",0.0000(T),0.036,-0.192105,5.83,2.44,-0.362000,0.142000,1.159000,0.928000,0.260000,0.993000,3.9936
missense_variant,KIAA1731,MISSENSE,NM_033395.1:p.Arg208Gln/c.623G>A,cGg/cAg,MODERATE,,0.908746,0.995,rs10831088,1(T),0.0(B),-1.24(N),-0.9660(T),,chr11,93408831,93408831,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg208Gln/c.623G>A|2601|KIAA1731|protein_coding|CODING|NM_033395.1|6|1),splice_region_variant(LOW|||c.623G>A|2601|KIAA1731|protein_coding|CODING|NM_033395.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9898,0.9553,0.9901,0.92,0.77,0.99,,0.000915(N),0.000(P),"3.23,3.23(T,T)",0.0000(T),0.052,0.786276,5.54,5.54,-0.269000,0.936000,4.834000,0.785000,0.997000,1.000000,10.0329
missense_variant,KIAA1731,MISSENSE,NM_033395.1:p.Ala499Glu/c.1496C>A,gCa/gAa,MODERATE,,0.908347,0.9931,rs4753495,1(T),0.0(B),-1.245(N),-0.9248(T),,chr11,93425159,93425159,C,A,hom,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala499Glu/c.1496C>A|2601|KIAA1731|protein_coding|CODING|NM_033395.1|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9553,0.9901,0.92,0.77,0.99,,0.448824(N),0.000(P),"3.22,3.22(T,T)",0.0000(T),0.133,-0.294334,5.26,-0.2,-1.649000,-0.694000,0.773000,0.969000,0.776000,1.000000,16.6704
missense_variant,KIAA1731,MISSENSE,NM_033395.1:p.Asp2103Glu/c.6309C>G,gaC/gaG,MODERATE,,0.0199681,0,rs78544176,0.07(T),"0.543,0.543,0.543(P,P,P)",1.175(L),-1.0348(T),,chr11,93457532,93457532,C,G,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp2103Glu/c.6309C>G|2601|KIAA1731|protein_coding|CODING|NM_033395.1|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0331,0.0676,0.05,0.02,0.07,,,0.964(N),"2.95,2.95(T,T)",0.0026(T),0.232,3.396631,5.57,3.45,0.655000,1.496000,0.094000,0.985000,1.000000,0.996000,5.7661
missense_variant,KIAA1731,MISSENSE,NM_033395.1:p.Glu2437Val/c.7310A>T,gAg/gTg,MODERATE,COSM1135271(2),0.652157,0.6677,rs7131178,0.67(T),"0.018,0.049,0.049(B,B,B)",1.1(L),-0.9860(T),,chr11,93462607,93462607,A,T,hom,"missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu2437Val/c.7310A>T|2601|KIAA1731|protein_coding|CODING|NM_033395.1|26|1),downstream_gene_variant(MODIFIER||1074|||SNORA25||NON_CODING|NR_003028.1||1),downstream_gene_variant(MODIFIER||1538|||SNORA32||NON_CODING|NR_003032.1||1)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,HeLa-S3:PolII,K562:BCL3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8517,0.8156,0.829,0.68,0.35,0.82,,,1.000(P),"2.65,2.64(T,T)",0.0000(T),0.386,1.553689,4.07,-0.841,0.533000,-0.160000,0.340000,0.055000,0.001000,0.475000,0.4221
synonymous_variant,MED17,SILENT,NM_004268.4:p.Gly65Gly/c.195C>G,ggC/ggG,LOW,COSM3752815(2),0.565695,0.7411,rs7116967,,,,,,chr11,93517874,93517874,C,G,het,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly65Gly/c.195C>G|651|MED17|protein_coding|CODING|NM_004268.4|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,RCV000117608.1,,0.5654,0.7464,0.6382,0.55,0.36,0.64,,,,,,,,,,,,,,,,
missense_variant,MED17,MISSENSE,NM_004268.4:p.Glu69Asp/c.207G>C,gaG/gaC,MODERATE,COSM3752816(3),0.565695,0.7411,rs2848477,0.63(T),"0.0,0.0(B,B)",1.59(L),-0.9519(T),,chr11,93517886,93517886,G,C,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu69Asp/c.207G>C|651|MED17|protein_coding|CODING|NM_004268.4|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:CTCFL,HMEC:CTCF,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,RCV000117609.1,,0.5654,0.7464,0.6382,0.55,0.37,0.64,,0.000006(N),1.000(P),"0.51,0.51,0.51(T,T,T)",0.0000(T),0.113,-0.094237,5.76,1.67,-0.216000,0.391000,0.190000,0.330000,1.000000,0.996000,6.367
missense_variant,VSTM5,MISSENSE,NM_001144871.1:p.Arg27Cys/c.79C>T,Cgc/Tgc,MODERATE,,0.0357428,0.0109,rs11020541,0.15(T),0.255(B),1.39(L),-1.1161(T),,chr11,93583590,93583590,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg27Cys/c.79C>T|200|VSTM5|protein_coding|CODING|NM_001144871.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:DNase1,HepG2:H3K27me3",,,,0.0245,0.036,0.0318,0.04,0.05,0.03,,0.336766(U),0.825(N),,0.0061(T),0.219,0.590192,4.02,3.08,0.555000,0.875000,-0.295000,0.062000,0.348000,0.941000,8.746
missense_variant,HEPHL1,MISSENSE,NM_001098672.1:p.Asn251Asp/c.751A>G,Aac/Gac,MODERATE,,0.910144,1,rs1945783,1(T),0.001(B),-0.245(N),-0.9197(T),,chr11,93797619,93797619,A,G,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn251Asp/c.751A>G|1159|HEPHL1|protein_coding|CODING|NM_001098672.1|4|1),"HMEC:H3K36me3,NHEK:H3K36me3",,,,1,0.9784,0.998,0.92,0.75,1.00,,0.012619(N),1.000(P),-5.0(D),0.0000(T),0.005,-1.980371,4.98,2.07,-0.735000,-0.067000,0.878000,0.211000,0.060000,0.094000,9.427
missense_variant,PANX1,MISSENSE,NM_015368.3:p.Gln5His/c.15A>C,caA/caC,MODERATE,,0.698283,0.6171,rs1138800,1(T),"0.0,0.0(B,B)",-1.845(N),-0.9845(T),,chr11,93862493,93862493,A,C,het,missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln5His/c.15A>C|426|PANX1|protein_coding|CODING|NM_015368.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.59,0.7723,0.6203,0.70,0.82,0.64,,0.000546(N),1.000(P),"1.67,1.67(T,T)",0.0000(T),0.021,0.265015,4.21,3.3,-0.323000,0.442000,0.217000,0.977000,1.000000,0.830000,4.9587
missense_variant,GPR83,MISSENSE,NM_016540.3:p.Pro374Gln/c.1121C>A,cCa/cAa,MODERATE,COSM3998630(1),0.0946486,0.1032,rs3740868,0.6(T),0.001(B),0.345(N),-1.0971(T),,chr11,94113466,94113466,G,T,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro374Gln/c.1121C>A|423|GPR83|protein_coding|CODING|NM_016540.3|4|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1973,0.0793,0.0895,0.08,0.04,0.10,,0.022788(N),1.000(N),"0.45,0.45(T,T)",0.0021(T),0.061,-1.453202,5.75,0.397,0.655000,0.164000,0.564000,0.090000,0.020000,0.189000,3.5401
synonymous_variant,ANKRD49,SILENT,NM_017704.2:p.Leu93Leu/c.279C>G,ctC/ctG,LOW,,0.547524,0.5208,rs2509943,,,,,,chr11,94231257,94231257,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu93Leu/c.279C>G|239|ANKRD49|protein_coding|CODING|NM_017704.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4356,0.5202,0.5537,0.59,0.63,0.57,,,,,,,,,,,,,,,,
missense_variant,C11orf97,MISSENSE,NM_001190462.1:p.Lys16Glu/c.46A>G,Aag/Gag,MODERATE,,0.53095,0.5565,rs2509324,,,,,,chr11,94245740,94245740,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys16Glu/c.46A>G|126|C11orf97|protein_coding|CODING|NM_001190462.1|1|1),"K562:H3K4me3,HepG2:H3K4me2,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,H1ESC:Sin3Ak20,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.3732,0.5317,0.5875,,,,,,,,,,,,,,,,,,,
missense_variant,C11orf97,MISSENSE,NM_001190462.1:p.Leu86Val/c.256C>G,Ctg/Gtg,MODERATE,,0.675919,0.6617,rs647484,,,,,,chr11,94261255,94261255,C,G,hom,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu86Val/c.256C>G|126|C11orf97|protein_coding|CODING|NM_001190462.1|3|1),HUVEC:H3K27me3,,,,0.5603,0.611,0.6392,,,,,,,,,,,,,,,,,,,
synonymous_variant,PIWIL4,SILENT,NM_152431.2:p.Phe246Phe/c.738T>C,ttT/ttC,LOW,COSM3752817(1),0.553514,0.5,rs7110167,,,,,,chr11,94320237,94320237,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe246Phe/c.738T>C|852|PIWIL4|protein_coding|CODING|NM_152431.2|7|1),,,,,0.4867,0.4524,0.4016,0.52,0.75,0.40,,,,,,,,,,,,,,,,
missense_variant,PIWIL4,MISSENSE,NM_152431.2:p.Lys256Gln/c.766A>C,Aag/Cag,MODERATE,,0.00179712,0,rs142289424,0.05(D),0.011(B),1.21(L),-1.0051(T),,chr11,94320265,94320265,A,C,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys256Gln/c.766A>C|852|PIWIL4|protein_coding|CODING|NM_152431.2|7|1),HepG2:H3K27me3,,,,0,0.0043,0.005,0.01,0.00,0.01,,0.977723(N),1.000(N),2.98(T),0.0204(T),0.116,-0.241935,4.79,3.65,0.459000,0.849000,0.965000,0.220000,0.003000,0.000000,9.9795
missense_variant,PIWIL4,MISSENSE,NM_152431.2:p.Gln327Leu/c.980A>T,cAg/cTg,MODERATE,COSM3752818(2),0.188099,0.2817,rs11020845,0.13(T),0.158(B),1.84(L),-0.9508(T),,chr11,94322352,94322352,A,T,het,missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln327Leu/c.980A>T|852|PIWIL4|protein_coding|CODING|NM_152431.2|8|1),"IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1697,0.1873,0.2813,0.03,0.01,0.04,,0.593796(N),0.000(P),2.53(T),0.0000(T),0.082,2.546340,4.96,-3.53,-0.388000,-0.492000,-0.490000,0.988000,0.714000,0.291000,2.9704
synonymous_variant,PIWIL4,SILENT,NM_152431.2:p.Gln327Gln/c.981G>A,caG/caA,LOW,COSM3752819(2),0.188099,0.2817,rs11020846,,,,,,chr11,94322353,94322353,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln327Gln/c.981G>A|852|PIWIL4|protein_coding|CODING|NM_152431.2|8|1),"IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1697,0.1873,0.2813,0.03,0.00,0.04,,,,,,,,,,,,,,,,
missense_variant,PIWIL4,MISSENSE,NM_152431.2:p.Ala370Pro/c.1108G>C,Gct/Cct,MODERATE,COSM3752820(1),0.229832,0.2649,rs386473399,0.28(T),0.004(B),0.29(N),-0.9163(T),,chr11,94326765,94326765,G,C,het,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala370Pro/c.1108G>C|852|PIWIL4|protein_coding|CODING|NM_152431.2|9|1),GM12878:H3K36me3,,,,0.1339,0.1686,0.2286,0.24,0.28,0.22,,0.235824(N),1.000(P),3.02(T),0.0000(T),0.118,-1.692544,4.77,-1.1,-0.379000,-0.073000,0.106000,0.009000,0.005000,0.488000,13.5706
synonymous_variant,PIWIL4,SILENT,NM_152431.2:p.Ala499Ala/c.1497C>T,gcC/gcT,LOW,,0.124601,0.0714,rs624184,,,,,,chr11,94335077,94335077,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala499Ala/c.1497C>T|852|PIWIL4|protein_coding|CODING|NM_152431.2|12|1),NHEK:H3K27me3,,,,0.1636,0.1686,0.0885,0.11,0.13,0.10,,,,,,,,,,,,,,,,
missense_variant,PIWIL4,MISSENSE,NM_152431.2:p.Lys524Asn/c.1572A>C,aaA/aaC,MODERATE,,,,,0.42(T),0.25(B),2.08(M),-0.9445(T),,chr11,94337156,94337156,A,C,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys524Asn/c.1572A>C|852|PIWIL4|protein_coding|CODING|NM_152431.2|13|1),,,,,,,,,,,,0.008131(N),1.000(D),3.65(T),0.0156(T),0.108,2.039876,5.11,3.99,-0.250000,0.977000,2.008000,0.856000,0.993000,1.000000,7.4451
missense_variant,KDM4E,MISSENSE,NM_001161630.1:p.Gln113Arg/c.338A>G,cAg/cGg,MODERATE,,0.876398,0.9762,rs10752685,0.52(T),0.0(B),-0.145(N),-0.9905(T),,chr11,94759059,94759059,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln113Arg/c.338A>G|506|KDM4E|protein_coding|CODING|NM_001161630.1|1|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.862,0.8847,0.837,,,,,,1.000(P),1.04(T),0.0000(T),0.038,-2.483150,2.72,-5.43,-1.632000,-1.040000,-6.763000,0.004000,0.000000,0.000000,0.4909
missense_variant,ENDOD1,MISSENSE,NM_015036.2:p.Val350Met/c.1048G>A,Gtg/Atg,MODERATE,COSM4146444(1),0.0672923,0.0337,rs3740862,0.11(T),0.022(B),1.01(L),-1.0429(T),,chr11,94862288,94862288,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val350Met/c.1048G>A|500|ENDOD1|protein_coding|CODING|NM_015036.2|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1902,0.049,0.0775,0.06,0.01,0.07,,0.851682(N),1.000(N),1.11(T),0.0047(T),0.037,0.347490,5.93,0.712,0.557000,0.106000,0.180000,0.305000,0.000000,0.000000,2.4064
missense_variant,ENDOD1,MISSENSE,NM_015036.2:p.Gly446Val/c.1337G>T,gGc/gTc,MODERATE,COSM3752822(1),0.20008,0.122,rs3740861,0.11(T),0.834(P),2.015(M),-1.1969(T),,chr11,94862577,94862577,G,T,het,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly446Val/c.1337G>T|500|ENDOD1|protein_coding|CODING|NM_015036.2|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.196,0.2684,0.23,0.12,0.28,,0.067907(N),0.889(P),1.24(T),0.0000(T),0.27,2.261585,5.97,5.97,0.557000,2.834000,6.268000,0.018000,0.067000,0.981000,20.4301
synonymous_variant,FAM76B,SILENT,NM_144664.4:p.Leu252Leu/c.754T>C,Ttg/Ctg,LOW,COSM3752823(2),0.577276,0.3433,rs1150360,,,,,,chr11,95512060,95512060,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu252Leu/c.754T>C|339|FAM76B|protein_coding|CODING|NM_144664.4|8|1),"H1ESC:H3K36me3,GM12878:BATF,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:DNase1",,,,0.4714,0.4942,0.5119,0.62,0.84,0.51,,,,,,,,,,,,,,,,
synonymous_variant,MTMR2,SILENT,NM_016156.5:p.Arg586Arg/c.1756C>A,Cgg/Agg,LOW,,0.0421326,0.002,rs61735577,,,,,,chr11,95569326,95569326,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg514Arg/c.1540C>A|571|MTMR2|protein_coding|CODING|NM_001243571.1|17|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg586Arg/c.1756C>A|643|MTMR2|protein_coding|CODING|NM_016156.5|14|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg514Arg/c.1540C>A|571|MTMR2|protein_coding|CODING|NM_201278.2|16|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg514Arg/c.1540C>A|571|MTMR2|protein_coding|CODING|NM_201281.2|15|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,HMEC:CTCF,NH-A:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HUVEC:FAIRE,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,HMEC:DNase1,GM06990:H3K36me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.0941,0.0202,0.0288,0.03,0.06,0.02,,,,,,,,,,,,,,,,
missense_variant,MTMR2,MISSENSE,NM_016156.5:p.Glu502Gln/c.1504G>C,Gag/Cag,MODERATE,,0.0423323,0.002,rs61735578,0.07(T),0.293(B),2.735(M),-0.0410(T),,chr11,95571347,95571347,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu430Gln/c.1288G>C|571|MTMR2|protein_coding|CODING|NM_001243571.1|16|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu502Gln/c.1504G>C|643|MTMR2|protein_coding|CODING|NM_016156.5|13|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu430Gln/c.1288G>C|571|MTMR2|protein_coding|CODING|NM_201278.2|15|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu430Gln/c.1288G>C|571|MTMR2|protein_coding|CODING|NM_201281.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0941,0.0202,0.0298,0.03,0.06,0.02,,0.000000(D),1.000(D),"-2.91,-2.91,-2.91,-2.91,-2.91(D,D,D,D,D)",0.3003(T),0.624,3.572266,5.52,4.58,0.563000,2.599000,6.012000,0.565000,0.998000,1.000000,16.4341
synonymous_variant,MAML2,SILENT,NM_032427.2:p.Ser466Ser/c.1398T>C,tcT/tcC,LOW,COSM3773616(2),0.505391,0.2014,rs7931870,,,,,,chr11,95825797,95825797,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser466Ser/c.1398T>C|1156|MAML2|protein_coding|CODING|NM_032427.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4847,0.464,0.5736,0.62,0.71,0.58,,,,,,,,,,,,,,,,
missense_variant,CNTN5,MISSENSE,NM_001243270.1:p.Leu70Arg/c.209T>G,cTa/cGa,MODERATE,COSM3931470(2),,,rs7125822,0.46(T),"0.0,0.0(B,B)",-0.55(N),-1.0353(T),,chr11,99690428,99690428,T,G,het,"missense_variant(MODERATE|MISSENSE|cTa/cGa|p.Leu70Arg/c.209T>G|1100|CNTN5|protein_coding|CODING|NM_001243270.1|3|1),missense_variant(MODERATE|MISSENSE|cTa/cGa|p.Leu70Arg/c.209T>G|911|CNTN5|protein_coding|CODING|NM_001243271.1|4|1),missense_variant(MODERATE|MISSENSE|cTa/cGa|p.Leu70Arg/c.209T>G|1100|CNTN5|protein_coding|CODING|NM_014361.3|4|1),intron_variant(MODIFIER|||c.56-25156T>G|1026|CNTN5|protein_coding|CODING|NM_175566.2|1|1)",,,,,,,,,,,,0.154341(N),0.000(P),"0.47,0.54,0.54,0.54(T,T,T,T)",0.0540(T),0.404,-1.377401,5.06,3.13,-0.127000,0.778000,0.881000,0.262000,0.997000,1.000000,6.3449
synonymous_variant,ARHGAP42,SILENT,NM_152432.2:p.Arg338Arg/c.1014A>G,cgA/cgG,LOW,,0.410942,0.7312,rs543146,,,,,,chr11,100814570,100814570,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg338Arg/c.1014A>G|874|ARHGAP42|protein_coding|CODING|NM_152432.2|10|1),HSMM:H3K36me3,,,,0.5971,0.4308,0.2565,0.26,0.20,0.29,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP42,SILENT,NM_152432.2:p.Pro668Pro/c.2004A>G,ccA/ccG,LOW,COSM3752078(2),0.573882,0.997,rs654593,,,,,,chr11,100846936,100846936,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro668Pro/c.2004A>G|874|ARHGAP42|protein_coding|CODING|NM_152432.2|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6933,0.6081,0.4344,0.41,0.34,0.44,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP42,SILENT,NM_152432.2:p.Ser706Ser/c.2118A>G,tcA/tcG,LOW,COSM3752079(1),0.560104,0.997,rs569270,,,,,,chr11,100847050,100847050,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser706Ser/c.2118A>G|874|ARHGAP42|protein_coding|CODING|NM_152432.2|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6933,0.6009,0.4344,0.40,0.31,0.44,,,,,,,,,,,,,,,,
missense_variant,ARHGAP42,MISSENSE,NM_152432.2:p.Val713Ile/c.2137G>A,Gtt/Att,MODERATE,,0.496206,0.997,rs569336,0.24(T),0.0(B),1.04(L),-0.9692(T),,chr11,100847069,100847069,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val713Ile/c.2137G>A|874|ARHGAP42|protein_coding|CODING|NM_152432.2|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6391,0.5274,0.2883,0.28,0.22,0.31,,,1.000(P),"3.25,3.34(T,T)",0.0000(T),0.082,-0.129186,5.7,2.36,0.655000,0.760000,1.390000,0.397000,0.008000,0.011000,12.4883
synonymous_variant,TMEM133,SILENT,NM_032021.2:p.Glu19Glu/c.57A>G,gaA/gaG,LOW,,0.388179,0.7579,rs386506064,,,,,,chr11,100863096,100863096,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu19Glu/c.57A>G|129|TMEM133|protein_coding|CODING|NM_032021.2|1|1),downstream_gene_variant(MODIFIER||1440||874|ARHGAP42|protein_coding|CODING|NM_152432.2||1)",,,,,0.547,0.3977,0.2028,0.18,0.13,0.21,,,,,,,,,,,,,,,,
missense_variant,TMEM133,MISSENSE,NM_032021.2:p.Asn94His/c.280A>C,Aat/Cat,MODERATE,,0.0700879,0.1855,rs61995873,0(D),0.104(B),0(N),-1.0040(T),,chr11,100863319,100863319,A,C,het,"missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn94His/c.280A>C|129|TMEM133|protein_coding|CODING|NM_032021.2|1|1),downstream_gene_variant(MODIFIER||1663||874|ARHGAP42|protein_coding|CODING|NM_152432.2||1)",HSMM:H3K36me3,,,,0.0429,0.1081,0.0467,0.03,0.01,0.05,,,1.000(P),,0.0000(T),0.027,0.610544,4.59,-0.537,0.533000,0.017000,0.962000,0.024000,0.005000,0.001000,4.1765
synonymous_variant,TMEM133,SILENT,NM_032021.2:p.Val105Val/c.315C>A,gtC/gtA,LOW,,0.384984,0.756,rs386594878,,,,,,chr11,100863354,100863354,C,A,het,"synonymous_variant(LOW|SILENT|gtC/gtA|p.Val105Val/c.315C>A|129|TMEM133|protein_coding|CODING|NM_032021.2|1|1),downstream_gene_variant(MODIFIER||1698||874|ARHGAP42|protein_coding|CODING|NM_152432.2||1)",HSMM:H3K36me3,,,,0.5429,0.3934,0.1988,0.18,0.13,0.21,,,,,,,,,,,,,,,,
synonymous_variant,PGR,SILENT,NM_000926.4:p.Gly393Gly/c.1179C>T,ggC/ggT,LOW,,0.14377,0.006,rs1379130,,,,,,chr11,100998623,100998623,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly229Gly/c.687C>T|769|PGR|protein_coding|CODING|NM_001202474.3|1|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly229Gly/c.687C>T|667|PGR|protein_coding|CODING|NM_001271161.2|1|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly393Gly/c.1179C>T|933|PGR|protein_coding|CODING|NM_000926.4|1|1),upstream_gene_variant(MODIFIER||1185|||LOC101054525||NON_CODING|NR_073144.1||1),intron_variant(MODIFIER|||c.-146+1536C>T|339|PGR|protein_coding|CODING|NM_001271162.1|1|1),non_coding_exon_variant(MODIFIER|||n.1172C>T||PGR||CODING|NR_073141.2|1|1),non_coding_exon_variant(MODIFIER|||n.1172C>T||PGR||CODING|NR_073142.2|1|1),non_coding_exon_variant(MODIFIER|||n.1172C>T||PGR||CODING|NR_073143.2|1|1)","H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.183,0.2406,0.3211,0.24,0.09,0.32,,,,,,,,,,,,,,,,
synonymous_variant,TRPC6,SILENT,NM_004621.5:p.Phe843Phe/c.2529C>T,ttC/ttT,LOW,COSM4145010(1),0.153355,0.001,rs72984209,,,,,,chr11,101325788,101325788,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe843Phe/c.2529C>T|931|TRPC6|protein_coding|CODING|NM_004621.5|11|1),,,,,0.0869,0.0994,0.0775,0.16,0.33,0.07,,,,,,,,,,,,,,,,
synonymous_variant,TRPC6,SILENT,NM_004621.5:p.Asn561Asn/c.1683T>C,aaT/aaC,LOW,,0.298922,0.0724,rs12366144,,,,,,chr11,101347093,101347093,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn561Asn/c.1683T>C|931|TRPC6|protein_coding|CODING|NM_004621.5|6|1),,,,,0.2658,0.2046,0.2495,0.33,0.52,0.24,,,,,,,,,,,,,,,,
missense_variant,ANGPTL5,MISSENSE,NM_178127.4:p.Arg192Trp/c.574C>T,Cgg/Tgg,MODERATE,,0.996805,1,rs3858418,1(T),0.0(B),-4.345(N),-0.8741(T),,chr11,101771248,101771248,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg192Trp/c.574C>T|388|ANGPTL5|protein_coding|CODING|NM_178127.4|7|1),,,,,0.999,0.9986,0.9871,1.00,1.00,0.99,,0.000000(N),0.998(P),"0.01,-2.92(T,D)",0.0000(T),0.152,0.566358,4.88,4.88,-0.269000,0.807000,5.970000,0.992000,1.000000,1.000000,10.8552
missense_variant,KIAA1377,MISSENSE,NM_020802.3:p.Gly238Cys/c.712G>T,Ggt/Tgt,MODERATE,,1,1,rs7926728,0.38(T),0.0(B),-1.95(N),-1.0139(T),,chr11,101832478,101832478,G,T,hom,missense_variant(MODERATE|MISSENSE|Ggt/Tgt|p.Gly238Cys/c.712G>T|1117|KIAA1377|protein_coding|CODING|NM_020802.3|6|1),HSMM:DNase1,,,,1,1,1,,,,,0.045821(N),0.999(P),"3.41,3.41(T,T)",0.0000(T),0.148,0.721569,5.51,1.79,-0.363000,0.070000,0.240000,0.596000,0.999000,0.998000,4.6479
synonymous_variant,KIAA1377,SILENT,NM_020802.3:p.Thr626Thr/c.1878C>T,acC/acT,LOW,,0.98722,1,rs7109233,,,,,,chr11,101833644,101833644,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr626Thr/c.1878C>T|1117|KIAA1377|protein_coding|CODING|NM_020802.3|6|1),HUVEC:H3K36me3,,,,0.9949,0.9755,0.9622,0.98,0.99,0.97,,,,,,,,,,,,,,,,
missense_variant,KIAA1377,MISSENSE,NM_020802.3:p.Ser1077Asn/c.3230G>A,aGt/aAt,MODERATE,,0.98742,1,rs6590942,1(T),0.0(B),-1.265(N),-0.9861(T),,chr11,101857758,101857758,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser1077Asn/c.3230G>A|1117|KIAA1377|protein_coding|CODING|NM_020802.3|9|1),,,,,0.9949,0.9755,0.9622,0.98,1.00,0.97,,0.002310(N),1.000(P),"4.04,4.04(T,T)",0.0000(T),0.025,-0.524346,5.38,4.24,-0.254000,0.431000,3.110000,0.823000,0.972000,1.000000,9.4063
missense_variant,BIRC3,MISSENSE,NM_001165.4:p.Arg401Lys/c.1202G>A,aGa/aAa,MODERATE,,0.00379393,0,rs17881197,0.92(T),0.001(B),0.49(N),-1.0247(T),,chr11,102201850,102201850,G,A,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg401Lys/c.1202G>A|604|BIRC3|protein_coding|CODING|NM_001165.4|6|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg401Lys/c.1202G>A|604|BIRC3|protein_coding|CODING|NM_182962.2|7|1)","GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0086,0.0099,0.01,0.00,0.01,,0.000000(D),0.962(N),"2.07,2.07(T,T)",0.0202(T),0.116,1.852072,5.19,4.28,0.491000,1.414000,6.326000,0.582000,0.841000,1.000000,13.6863
missense_variant,MMP7,MISSENSE,NM_002423.3:p.Arg77His/c.230G>A,cGc/cAc,MODERATE,COSM3752093(1),0.133586,0.248,rs10502001,0.17(T),"0.004,0.007(B,B)",1.195(L),-1.0706(T),,chr11,102398593,102398593,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg77His/c.230G>A|267|MMP7|protein_coding|CODING|NM_002423.3|2|1),"HeLa-S3:DNase1,NH-A:DNase1",,,,0.0828,0.1484,0.2237,0.16,0.05,0.22,,0.062020(N),1.000(P),1.26(T),0.0000(T),0.041,1.018645,5.39,-7.85,0.563000,-1.561000,-0.363000,0.064000,0.000000,0.000000,18.316
missense_variant,MMP20,MISSENSE,NM_004771.3:p.Thr281Asn/c.842C>A,aCt/aAt,MODERATE,,0.419928,0.4325,rs1784424,0.52(T),0.001(B),1.04(L),-0.9200(T),,chr11,102477377,102477377,G,T,het,missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr281Asn/c.842C>A|483|MMP20|protein_coding|CODING|NM_004771.3|6|1),K562:H3K27me3,,,,0.5869,0.4424,0.4364,0.41,0.31,0.46,,0.063204(N),1.000(P),2.5(T),0.0000(T),0.026,-1.362562,5.45,2.3,-0.813000,0.417000,0.646000,0.001000,0.164000,0.576000,8.1778
missense_variant,MMP20,MISSENSE,NM_004771.3:p.Val275Ala/c.824T>C,gTa/gCa,MODERATE,,0.419928,0.4325,rs1784423,0.84(T),0.0(B),-0.695(N),-0.9298(T),,chr11,102477395,102477395,A,G,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val275Ala/c.824T>C|483|MMP20|protein_coding|CODING|NM_004771.3|6|1),K562:H3K27me3,,,,0.5869,0.4424,0.4364,0.41,0.31,0.46,,0.622272(N),1.000(P),2.69(T),0.0000(T),0.02,-1.683853,5.45,4.53,-0.128000,0.855000,0.727000,0.020000,0.017000,0.005000,7.9149
missense_variant,MMP20,MISSENSE,NM_004771.3:p.Lys18Thr/c.53A>C,aAg/aCg,MODERATE,,0.676518,0.8016,rs2245803,0.61(T),0.0(B),0(N),-1.0116(T),,chr11,102495998,102495998,T,G,het,missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys18Thr/c.53A>C|483|MMP20|protein_coding|CODING|NM_004771.3|1|1),"GM12878:H3K27me3,HepG2:HNF4A",,,,0.6943,0.6816,0.6262,0.64,0.62,0.64,,0.842373(N),0.859(P),2.65(T),0.0000(T),0.226,0.361845,5.26,4.12,0.460000,0.999000,2.004000,0.562000,0.727000,0.997000,11.56
synonymous_variant,MMP27,SILENT,NM_022122.2:p.Val178Val/c.534G>T,gtG/gtT,LOW,,0.108227,0.1081,rs3809018,,,,,,chr11,102573569,102573569,C,A,het,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val178Val/c.534G>T|513|MMP27|protein_coding|CODING|NM_022122.2|4|1),HUVEC:H3K27me3,,,,0.1166,0.1859,0.1789,0.14,0.04,0.20,,,,,,,,,,,,,,,,
missense_variant,MMP27,MISSENSE,NM_022122.2:p.Met30Val/c.88A>G,Atg/Gtg,MODERATE,,0.815895,0.8839,rs2846707,0.91(T),0.012(B),0.47(N),-0.9878(T),,chr11,102576358,102576358,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met30Val/c.88A>G|513|MMP27|protein_coding|CODING|NM_022122.2|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.8088,0.7233,0.6799,0.73,0.87,0.66,,0.022433(N),1.000(P),2.2(T),0.0000(T),0.026,-1.767913,5.22,0.184,-1.881000,-0.282000,-0.323000,0.005000,0.000000,0.000000,7.2012
missense_variant,MMP27,MISSENSE,NM_022122.2:p.Thr24Met/c.71C>T,aCg/aTg,MODERATE,COSM1579495(1),0.778155,0.8135,rs1939015,0.29(T),0.003(B),0.26(N),-1.0372(T),,chr11,102576375,102576375,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr24Met/c.71C>T|513|MMP27|protein_coding|CODING|NM_022122.2|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.7566,0.8184,0.834,0.80,0.74,0.83,,0.036213(N),1.000(P),1.28(T),0.0000(T),0.033,-1.536266,4.98,-1.96,-0.238000,-0.404000,-0.956000,0.023000,0.000000,0.000000,0.9127
splice_acceptor_variant,MMP8,protein_coding,NM_002424.2:c.785G>T,,HIGH,,,,,,,,,MMP8:1.00(1);,chr11,102587151,102587151,C,A,het,"splice_acceptor_variant(HIGH|||c.785G>T|467|MMP8|protein_coding|CODING|NM_002424.2|6|1),intron_variant(MODIFIER|||c.785-1G>T|467|MMP8|protein_coding|CODING|NM_002424.2|5|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,,1.000(D),,,.,2.192801,5.15,5.15,0.563000,2.382000,5.948000,0.286000,0.913000,1.000000,17.3845
missense_variant,MMP8,MISSENSE,NM_002424.2:p.Lys87Glu/c.259A>G,Aaa/Gaa,MODERATE,,0.60004,0.5685,rs1940475,,,1.375(L),-0.9551(T),,chr11,102593248,102593248,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys87Glu/c.259A>G|467|MMP8|protein_coding|CODING|NM_002424.2|2|1),,,,,0.5982,0.5173,0.5467,0.55,0.65,0.51,,,1.000(P),,0.0000(T),.,2.615422,5.73,-6.06,-0.242000,-1.123000,-0.023000,0.763000,0.001000,0.003000,12.0951
missense_variant,MMP8,MISSENSE,NM_002424.2:p.Thr32Ile/c.95C>T,aCt/aTt,MODERATE,,0.654353,0.5774,rs3765620,0.26(T),0.001(B),-0.43(N),-0.9436(T),,chr11,102595492,102595492,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr32Ile/c.95C>T|467|MMP8|protein_coding|CODING|NM_002424.2|1|1),,,,,0.6513,0.5605,0.5885,0.62,0.75,0.56,,0.174354(N),1.000(P),1.29(T),0.0000(T),0.245,1.428057,5.09,0.964,-0.269000,-0.276000,0.819000,0.006000,0.001000,0.010000,8.3601
missense_variant,MMP10,MISSENSE,NM_002425.2:p.Ala390Ser/c.1168G>T,Gct/Tct,MODERATE,,0.000998403,0,rs139168339,0.01(D),0.999(D),3.225(M),-0.1512(T),,chr11,102643636,102643636,C,A,het,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala390Ser/c.1168G>T|476|MMP10|protein_coding|CODING|NM_002425.2|8|1),HSMM:H3K27me3,,,,0,0.0014,0.003,0.00,0.00,0.00,,0.000193(D),1.000(D),1.12(T),0.3427(T),0.596,3.337688,4.46,4.46,0.650000,2.459000,7.203000,0.045000,0.979000,1.000000,17.6796
synonymous_variant,MMP10,SILENT,NM_002425.2:p.Ile362Ile/c.1086C>A,atC/atA,LOW,,0.0111821,0,rs17359286,,,,,,chr11,102643718,102643718,G,T,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile362Ile/c.1086C>A|476|MMP10|protein_coding|CODING|NM_002425.2|8|1),HSMM:H3K27me3,,,,0.002,0.0159,0.0408,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,MMP10,MISSENSE,NM_002425.2:p.Arg53Lys/c.158G>A,aGa/aAa,MODERATE,,0.0453275,0.001,rs486055,1(T),0.038(B),0.305(N),-0.9846(T),,chr11,102650424,102650424,C,T,het,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg53Lys/c.158G>A|476|MMP10|protein_coding|CODING|NM_002425.2|2|1),,,,,0.0358,0.0663,0.1382,0.11,0.03,0.16,,0.002214(N),1.000(N),"1.44,1.44(T,T)",0.0001(T),0.177,0.048987,4.25,4.25,0.591000,2.365000,0.542000,0.046000,0.977000,0.000000,8.6471
synonymous_variant,MMP1,SILENT,NM_002421.3:p.Ala216Ala/c.648A>G,gcA/gcG,LOW,,0.93131,0.8899,rs386594782,,,,,,chr11,102666316,102666316,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala150Ala/c.450A>G|403|MMP1|protein_coding|CODING|NM_001145938.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala216Ala/c.648A>G|469|MMP1|protein_coding|CODING|NM_002421.3|5|1),intron_variant(MODIFIER|||n.583+361T>C||WTAPP1||NON_CODING|NR_038390.1|3|1)",,,,,0.9018,0.8876,0.9483,0.96,0.99,0.94,,,,,,,,,,,,,,,,
synonymous_variant,MMP3,SILENT,NM_002422.3:p.Ala362Ala/c.1086T>C,gcT/gcC,LOW,COSM3752100(1),0.622404,0.6706,rs520540,,,,-0.9661(T),,chr11,102709425,102709425,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala362Ala/c.1086T>C|477|MMP3|protein_coding|CODING|NM_002422.3|8|1),downstream_gene_variant(MODIFIER||1928|||WTAPP1||NON_CODING|NR_038390.1||1)",HUVEC:H3K27me3,,,,0.7229,0.6643,0.5298,0.51,0.54,0.50,,,0.000(P),,0.0000(T),.,0.806639,5.07,2.15,-0.186000,0.394000,1.162000,0.655000,1.000000,0.374000,6.7088
synonymous_variant,MMP3,SILENT,NM_002422.3:p.Asp96Asp/c.288T>C,gaT/gaC,LOW,COSM428295(2),0.61861,0.6667,rs602128,,,,,,chr11,102713465,102713465,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp96Asp/c.288T>C|477|MMP3|protein_coding|CODING|NM_002422.3|2|1),HUVEC:H3K27me3,,,,0.7229,0.6643,0.5278,0.51,0.54,0.50,,,,,,,,,,,,,,,,
missense_variant,MMP3,MISSENSE,NM_002422.3:p.Lys45Glu/c.133A>G,Aaa/Gaa,MODERATE,COSM428296(2),0.652157,0.6657,rs386605145,1(T),0.001(B),0.035(N),-0.9611(T),,chr11,102713620,102713620,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys45Glu/c.133A>G|477|MMP3|protein_coding|CODING|NM_002422.3|2|1),HUVEC:H3K27me3,,,,0.7219,0.6787,0.5278,0.55,0.64,0.50,,0.064238(N),1.000(P),1.34(T),0.0000(T),0.028,-0.477598,6.16,-0.221,-2.364000,-0.250000,-1.578000,0.002000,0.000000,0.000000,6.9869
synonymous_variant,MMP12,SILENT,NM_002426.4:p.Thr210Thr/c.630C>A,acC/acA,LOW,,,,rs68192524,,,,,,chr11,102738795,102738795,G,T,hom,synonymous_variant(LOW|SILENT|acC/acA|p.Thr210Thr/c.630C>A|469|MMP12|protein_coding|CODING|NM_002426.4|5|1|WARNING_TRANSCRIPT_INCOMPLETE),HUVEC:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MMP13,MISSENSE,NM_002427.3:p.Arg458Cys/c.1372C>T,Cgt/Tgt,MODERATE,,0.00119808,0,rs142064825,0(D),0.908(P),2.855(M),-1.2410(T),,chr11,102815039,102815039,G,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg458Cys/c.1372C>T|471|MMP13|protein_coding|CODING|NM_002427.3|10|1),,,,,0,0.0043,0.003,0.00,0.00,0.00,,,1.000(D),4.19(T),0.0385(T),0.684,2.905412,5.99,5.99,0.655000,2.847000,3.185000,0.210000,0.893000,1.000000,13.3635
missense_variant,DYNC2H1,MISSENSE,NM_001080463.1:p.Gln304Leu/c.911A>T,cAg/cTg,MODERATE,,0.0329473,0.0069,rs12146610,0.49(T),"0.99,0.048,0.062(D,B,B)",1.835(L),-0.9602(T),,chr11,102988504,102988504,A,T,het,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln304Leu/c.911A>T|4314|DYNC2H1|protein_coding|CODING|NM_001080463.1|6|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln304Leu/c.911A>T|4307|DYNC2H1|protein_coding|CODING|NM_001377.2|6|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.0409,0.0648,0.0666,0.05,0.01,0.07,,0.020986(U),1.000(D),"0.66,0.66,0.66(T,T,T)",0.0380(T),0.788,2.791557,5.02,5.02,0.528000,1.884000,8.900000,0.978000,1.000000,1.000000,14.7734
missense_variant,DYNC2H1,MISSENSE,NM_001080463.1:p.Lys1413Arg/c.4238A>G,aAa/aGa,MODERATE,,0.668331,0.7827,rs688906,0.1(T),"0.232,0.309(B,B)",1.68(L),-0.9350(T),,chr11,103029516,103029516,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1413Arg/c.4238A>G|4314|DYNC2H1|protein_coding|CODING|NM_001080463.1|27|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1413Arg/c.4238A>G|4307|DYNC2H1|protein_coding|CODING|NM_001377.2|27|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.7393,0.7464,0.7346,0.67,0.51,0.74,,0.001811(U),0.000(P),"-0.43,-0.43(T,T)",0.0000(T),0.292,2.269678,5.79,5.79,0.533000,2.212000,4.130000,0.997000,1.000000,1.000000,12.0109
synonymous_variant,DYNC2H1,SILENT,NM_001080463.1:p.Thr1906Thr/c.5718C>A,acC/acA,LOW,,0.93131,0.8859,rs585692,,,,,,chr11,103047007,103047007,C,A,hom,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr1906Thr/c.5718C>A|4314|DYNC2H1|protein_coding|CODING|NM_001080463.1|37|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr1906Thr/c.5718C>A|4307|DYNC2H1|protein_coding|CODING|NM_001377.2|37|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.8773,0.9553,0.9334,0.94,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,DYNC2H1,SILENT,NM_001080463.1:p.Asn2140Asn/c.6420T>C,aaT/aaC,LOW,,0.134185,0.2312,rs11225584,,,,,,chr11,103052558,103052558,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2140Asn/c.6420T>C|4314|DYNC2H1|protein_coding|CODING|NM_001080463.1|40|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2140Asn/c.6420T>C|4307|DYNC2H1|protein_coding|CODING|NM_001377.2|40|1)",,,,,0.1697,0.0922,0.1123,0.10,0.08,0.11,,,,,,,,,,,,,,,,
missense_variant,DYNC2H1,MISSENSE,NM_001080463.1:p.Arg2871Gln/c.8612G>A,cGa/cAa,MODERATE,COSM147316(1),0.738419,0.7937,rs589623,0.12(T),"0.393,0.091(B,B)",1.41(L),-1.1022(T),,chr11,103082590,103082590,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2871Gln/c.8612G>A|4314|DYNC2H1|protein_coding|CODING|NM_001080463.1|54|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg2871Gln/c.8612G>A|4307|DYNC2H1|protein_coding|CODING|NM_001377.2|54|1)",HMEC:H3K36me3,,,,0.771,0.8242,0.8072,0.75,0.63,0.81,,0.000815(U),0.000(P),"1.69,1.69(T,T)",0.0000(T),0.164,3.194842,5.76,5.76,0.650000,2.719000,4.336000,0.945000,1.000000,1.000000,19.9594
missense_variant,DYNC2H1,MISSENSE,NM_001080463.1:p.Ala3687Val/c.11060C>T,gCg/gTg,MODERATE,,0.286342,0.3016,rs10895391,0.12(T),"0.201,0.278(B,B)",1.95(M),-0.8480(T),,chr11,103158278,103158278,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3687Val/c.11060C>T|4314|DYNC2H1|protein_coding|CODING|NM_001080463.1|76|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3680Val/c.11039C>T|4307|DYNC2H1|protein_coding|CODING|NM_001377.2|75|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3998,0.2464,0.338,0.31,0.20,0.35,,0.000001(D),0.000(P),"2.93,2.93(T,T)",0.0000(T),0.722,4.207195,5.79,5.79,0.655000,2.746000,6.123000,0.951000,0.999000,1.000000,19.6264
synonymous_variant,DYNC2H1,SILENT,NM_001080463.1:p.Asp4039Asp/c.12117T>C,gaT/gaC,LOW,,0.495008,0.4871,rs2566913,,,,,,chr11,103229027,103229027,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp4039Asp/c.12117T>C|4314|DYNC2H1|protein_coding|CODING|NM_001080463.1|84|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp4032Asp/c.12096T>C|4307|DYNC2H1|protein_coding|CODING|NM_001377.2|83|1)","IMR90:DNase1,NH-A:DNase1",,,,0.5337,0.6816,0.661,0.56,0.32,0.67,,,,,,,,,,,,,,,,
splice_donor_variant,CASP12,,NR_034063.2:n.1074A>G,,HIGH,,0.997604,1,rs513131,,,,,,chr11,104761100,104761100,T,C,hom,"splice_donor_variant(HIGH|||n.1074A>G||CASP12||CODING|NR_034063.2|5|1),splice_donor_variant(HIGH|||n.1046A>G||CASP12||CODING|NR_034064.2|5|1),splice_donor_variant(HIGH|||n.839A>G||CASP12||CODING|NR_034067.2|4|1),splice_donor_variant(HIGH|||n.587A>G||CASP12||CODING|NR_034068.2|3|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His273Arg/c.818A>G|341|CASP12|protein_coding|CODING|NM_001191016.2|5|1),intron_variant(MODIFIER|||n.1073+1A>G||CASP12||CODING|NR_034063.2|5|1),intron_variant(MODIFIER|||n.1045+1A>G||CASP12||CODING|NR_034064.2|5|1),intron_variant(MODIFIER|||n.838+1A>G||CASP12||CODING|NR_034067.2|4|1),intron_variant(MODIFIER|||n.586+1A>G||CASP12||CODING|NR_034068.2|3|1),non_coding_exon_variant(MODIFIER|||n.1074A>G||CASP12||CODING|NR_034061.2|5|1),non_coding_exon_variant(MODIFIER|||n.839A>G||CASP12||CODING|NR_034065.2|4|1),non_coding_exon_variant(MODIFIER|||n.587A>G||CASP12||CODING|NR_034066.2|3|1),non_coding_exon_variant(MODIFIER|||n.1169A>G||CASP12||CODING|NR_034070.2|6|1),non_coding_exon_variant(MODIFIER|||n.934A>G||CASP12||CODING|NR_034071.2|5|1)",,,,,0.999,0.9971,1,,,,,,0.000(P),,,.,1.611951,3.94,3.02,-0.282000,0.440000,1.080000,0.442000,0.998000,0.991000,8.3097
missense_variant,CASP12,MISSENSE,NM_001191016.2:p.Gly238Ser/c.712G>A,Ggt/Agt,MODERATE,,0.998602,1,rs647039,0.79(T),0.0(B),,-1.0175(T),,chr11,104761206,104761206,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly238Ser/c.712G>A|341|CASP12|protein_coding|CODING|NM_001191016.2|5|1),non_coding_exon_variant(MODIFIER|||n.968G>A||CASP12||CODING|NR_034061.2|5|1),non_coding_exon_variant(MODIFIER|||n.733G>A||CASP12||CODING|NR_034065.2|4|1),non_coding_exon_variant(MODIFIER|||n.481G>A||CASP12||CODING|NR_034066.2|3|1),non_coding_exon_variant(MODIFIER|||n.1063G>A||CASP12||CODING|NR_034070.2|6|1),non_coding_exon_variant(MODIFIER|||n.828G>A||CASP12||CODING|NR_034071.2|5|1),non_coding_exon_variant(MODIFIER|||n.968G>A||CASP12||CODING|NR_034063.2|5|1),non_coding_exon_variant(MODIFIER|||n.940G>A||CASP12||CODING|NR_034064.2|5|1),non_coding_exon_variant(MODIFIER|||n.733G>A||CASP12||CODING|NR_034067.2|4|1),non_coding_exon_variant(MODIFIER|||n.481G>A||CASP12||CODING|NR_034068.2|3|1)",,,,,1,0.9986,1,,,,,0.337229(N),1.000(P),"2.08,2.08,2.08,2.08(T,T,T,T)",0.0000(T),0.077,-0.867680,3.81,-7.62,-1.408000,-2.337000,-0.183000,0.003000,0.000000,0.000000,0.7863
stop_gained,CASP12,NONSENSE,NM_001191016.2:p.Arg125*/c.373C>T,Cga/Tga,HIGH,,0.948482,0.998,rs497116,0.63(T),,,,CASP12:0.10(10);CASP12:0.10(10);,chr11,104763117,104763117,G,A,hom,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg125*/c.373C>T|341|CASP12|protein_coding|CODING|NM_001191016.2|3|1),non_coding_exon_variant(MODIFIER|||n.629C>T||CASP12||CODING|NR_034061.2|3|1),non_coding_exon_variant(MODIFIER|||n.629C>T||CASP12||CODING|NR_034063.2|3|1),non_coding_exon_variant(MODIFIER|||n.629C>T||CASP12||CODING|NR_034064.2|3|1),non_coding_exon_variant(MODIFIER|||n.629C>T||CASP12||CODING|NR_034065.2|3|1),non_coding_exon_variant(MODIFIER|||n.377C>T||CASP12||CODING|NR_034066.2|2|1),non_coding_exon_variant(MODIFIER|||n.629C>T||CASP12||CODING|NR_034067.2|3|1),non_coding_exon_variant(MODIFIER|||n.377C>T||CASP12||CODING|NR_034068.2|2|1),non_coding_exon_variant(MODIFIER|||n.724C>T||CASP12||CODING|NR_034070.2|4|1),non_coding_exon_variant(MODIFIER|||n.724C>T||CASP12||CODING|NR_034071.2|4|1)",,,RCV000002255.1,,0.9765,0.9798,0.999,,,,,0.600669(N),0.000(P),,,.,3.498905,4.5,-5.99,-0.413000,-0.764000,-1.545000,0.313000,0.000000,0.000000,9.1469
missense_variant,CASP12,MISSENSE,NM_001191016.2:p.Thr68Ile/c.203C>T,aCt/aTt,MODERATE,,0.955272,0.998,rs693001,0.22(T),"0.0,0.0,0.0(B,B,B)",,-0.9585(T),,chr11,104768000,104768000,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr68Ile/c.203C>T|341|CASP12|protein_coding|CODING|NM_001191016.2|2|1),intron_variant(MODIFIER|||n.263+1135C>T||CASP12||CODING|NR_034066.2|1|1),intron_variant(MODIFIER|||n.263+1135C>T||CASP12||CODING|NR_034068.2|1|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CASP12||CODING|NR_034061.2|2|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CASP12||CODING|NR_034063.2|2|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CASP12||CODING|NR_034064.2|2|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CASP12||CODING|NR_034065.2|2|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CASP12||CODING|NR_034067.2|2|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CASP12||CODING|NR_034070.2|2|1),non_coding_exon_variant(MODIFIER|||n.459C>T||CASP12||CODING|NR_034071.2|2|1)",,,,,0.9765,0.9827,0.999,,,,,0.016650(N),1.000(P),"2.05,2.05,2.05,2.05,2.05,2.05(T,T,T,T,T,T)",0.0000(T),0.044,0.463374,4.38,-1.34,-1.434000,-0.683000,-0.704000,0.000000,0.000000,0.000000,6.5735
synonymous_variant,CASP12,SILENT,NM_001191016.2:p.Val35Val/c.105A>G,gtA/gtG,LOW,,0.989816,1,rs555367,,,,,,chr11,104768098,104768098,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val35Val/c.105A>G|341|CASP12|protein_coding|CODING|NM_001191016.2|2|1),intron_variant(MODIFIER|||n.263+1037A>G||CASP12||CODING|NR_034066.2|1|1),intron_variant(MODIFIER|||n.263+1037A>G||CASP12||CODING|NR_034068.2|1|1),non_coding_exon_variant(MODIFIER|||n.361A>G||CASP12||CODING|NR_034061.2|2|1),non_coding_exon_variant(MODIFIER|||n.361A>G||CASP12||CODING|NR_034063.2|2|1),non_coding_exon_variant(MODIFIER|||n.361A>G||CASP12||CODING|NR_034064.2|2|1),non_coding_exon_variant(MODIFIER|||n.361A>G||CASP12||CODING|NR_034065.2|2|1),non_coding_exon_variant(MODIFIER|||n.361A>G||CASP12||CODING|NR_034067.2|2|1),non_coding_exon_variant(MODIFIER|||n.361A>G||CASP12||CODING|NR_034070.2|2|1),non_coding_exon_variant(MODIFIER|||n.361A>G||CASP12||CODING|NR_034071.2|2|1)",,,,,1,0.9971,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,CASP4,SILENT,NM_001225.3:p.Leu286Leu/c.858A>G,ctA/ctG,LOW,,0.949281,1,rs9507,,,,,,chr11,104819327,104819327,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu286Leu/c.858A>G|377|CASP4|protein_coding|CODING|NM_001225.3|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu230Leu/c.690A>G|321|CASP4|protein_coding|CODING|NM_033306.2|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9827,1,0.95,0.85,1.00,,,,,,,,,,,,,,,,
missense_variant,CASP5,MISSENSE,NM_001136112.1:p.Leu347Val/c.1039C>G,Ctc/Gtc,MODERATE,COSM428310(2),0.529153,0.7728,rs523104,0.52(T),"0.0,0.0,0.001,0.0(B,B,B,B)",-1.43(N),-1.0012(T),,chr11,104869708,104869708,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu276Val/c.826C>G|376|CASP5|protein_coding|CODING|NM_001136109.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu192Val/c.574C>G|292|CASP5|protein_coding|CODING|NM_001136110.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu347Val/c.1039C>G|447|CASP5|protein_coding|CODING|NM_001136112.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu334Val/c.1000C>G|434|CASP5|protein_coding|CODING|NM_004347.3|7|1),non_coding_exon_variant(MODIFIER|||n.748C>G||CASP5||CODING|NR_024239.1|5|1),non_coding_exon_variant(MODIFIER|||n.496C>G||CASP5||CODING|NR_036562.1|4|1)",,,,,0.5123,0.4035,0.4732,0.45,0.44,0.46,,0.201138(N),1.000(P),"4.02,4.02,4.02,4.02,4.02,4.02(T,T,T,T,T,T)",0.0000(T),0.201,-0.499303,4.19,-4.68,-0.968000,-1.532000,-0.448000,0.001000,0.000000,0.000000,1.7822
missense_variant,CASP5,MISSENSE,NM_001136112.1:p.Thr119Ala/c.355A>G,Acc/Gcc,MODERATE,COSM3998188(1),0.445288,0.2341,rs507879,1(T),"0.0,0.0,0.0(B,B,B)",-1.495(N),-0.9405(T),,chr11,104877927,104877927,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr48Ala/c.142A>G|376|CASP5|protein_coding|CODING|NM_001136109.1|2|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr119Ala/c.355A>G|447|CASP5|protein_coding|CODING|NM_001136112.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr106Ala/c.316A>G|434|CASP5|protein_coding|CODING|NM_004347.3|3|1),intron_variant(MODIFIER|||n.40-4999A>G||CASP5||CODING|NR_036562.1|1|1),intron_variant(MODIFIER|||c.8-3817A>G|292|CASP5|protein_coding|CODING|NM_001136110.1|1|1),non_coding_exon_variant(MODIFIER|||n.174A>G||CASP5||CODING|NR_024239.1|2|1)",,,,,0.3763,0.4683,0.4443,0.50,0.61,0.44,,0.289191(N),1.000(P),"2.05,2.05,2.05,2.05,2.05,2.05(T,T,T,T,T,T)",0.0000(T),0.048,-1.433602,4.42,2.54,-0.898000,0.617000,0.167000,0.007000,0.051000,0.000000,5.9798
synonymous_variant,MSANTD4,SILENT,NM_032424.1:p.Leu214Leu/c.640T>C,Ttg/Ctg,LOW,,0.0071885,0,rs77581633,,,,,,chr11,105880660,105880660,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu214Leu/c.640T>C|345|MSANTD4|protein_coding|CODING|NM_032424.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0072,0.0249,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,CWF19L2,MISSENSE,NM_152434.2:p.His443Tyr/c.1327C>T,Cac/Tac,MODERATE,COSM4165632(1),0.114617,0.002,rs659040,0.08(T),0.0(B),0.41(N),-0.9861(T),,chr11,107299631,107299631,G,A,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His443Tyr/c.1327C>T|894|CWF19L2|protein_coding|CODING|NM_152434.2|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0419,0.1369,0.2227,0.20,0.18,0.22,,0.001196(N),1.000(P),"2.01,2.01(T,T)",0.0000(T),0.067,-1.248631,5.02,-3.67,-1.120000,-0.716000,-1.808000,0.003000,0.000000,0.000000,2.3012
synonymous_variant,ALKBH8,SILENT,NM_001301010.1:p.Asp243Asp/c.729T>C,gaT/gaC,LOW,COSM3985881(1),0.711462,0.6627,rs645056,,,,,,chr11,107420530,107420530,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp243Asp/c.729T>C|667|ALKBH8|protein_coding|CODING|NM_001301010.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp240Asp/c.720T>C|664|ALKBH8|protein_coding|CODING|NM_138775.2|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8701,0.6657,0.8499,0.78,0.60,0.85,,,,,,,,,,,,,,,,
missense_variant,SLC35F2,MISSENSE,NM_017515.4:p.Ser254Asn/c.761G>A,aGc/aAc,MODERATE,,0.000199681,0,rs184602466,0.48(T),0.002(B),-0.23(N),-1.0486(T),,chr11,107675467,107675467,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser254Asn/c.761G>A|374|SLC35F2|protein_coding|CODING|NM_017515.4|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0,0.00,0.00,0.00,,0.102770(N),1.000(N),"-0.52,-0.52,-0.52,-0.52(T,T,T,T)",0.1086(T),0.031,1.530892,5.38,2.0,0.655000,0.616000,-0.287000,0.920000,0.999000,0.042000,3.6431
synonymous_variant,CUL5,SILENT,NM_003478.3:p.Gln75Gln/c.225A>G,caA/caG,LOW,,0.662141,0.9038,rs7117111,,,,-1.0275(T),,chr11,107917087,107917087,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln75Gln/c.225A>G|780|CUL5|protein_coding|CODING|NM_003478.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7566,0.745,0.6561,0.57,0.40,0.66,,,0.000(P),,0.0000(T),.,1.042218,5.81,5.81,0.533000,2.210000,4.341000,0.998000,1.000000,1.000000,11.9971
missense_variant,NPAT,MISSENSE,NM_002519.2:p.Asn1216Asp/c.3646A>G,Aac/Gac,MODERATE,,0.00139776,0,rs189775078,0.05(D),0.169(B),2.015(M),-1.0625(T),,chr11,108032167,108032167,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1216Asp/c.3646A>G|1427|NPAT|protein_coding|CODING|NM_002519.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0014,0.004,0.00,0.00,0.00,,0.004737(N),0.878(N),3.56(T),0.0130(T),0.045,1.129618,5.54,5.54,0.528000,2.330000,4.032000,0.015000,0.715000,1.000000,10.202
missense_variant,NPAT,MISSENSE,NM_002519.2:p.Val575Ile/c.1723G>A,Gtt/Att,MODERATE,COSM3752119(3),0.615615,0.4554,rs2070661,0.93(T),0.0(B),-0.805(N),-0.9444(T),,chr11,108043988,108043988,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val575Ile/c.1723G>A|1427|NPAT|protein_coding|CODING|NM_002519.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6759,0.6729,0.6302,0.59,0.63,0.58,,0.010179(N),1.000(P),2.12(T),0.0000(T),0.037,-1.529948,6.08,4.93,-0.254000,0.518000,1.311000,0.395000,0.934000,0.979000,4.4367
missense_variant,NPAT,MISSENSE,NM_002519.2:p.Leu540Phe/c.1620A>T,ttA/ttT,MODERATE,,0.103035,0.2183,rs4144901,0.13(T),"0.847,0.788(P,P)",2.015(M),-1.0762(T),,chr11,108044091,108044091,T,A,het,missense_variant(MODERATE|MISSENSE|ttA/ttT|p.Leu540Phe/c.1620A>T|1427|NPAT|protein_coding|CODING|NM_002519.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0706,0.0879,0.1213,0.12,0.05,0.14,,0.066295(N),1.000(P),0.84(T),0.0002(T),0.105,2.822826,6.08,3.74,0.533000,1.089000,0.998000,0.994000,0.993000,0.987000,6.2753
missense_variant,ATM,MISSENSE,NM_000051.3:p.Asp1853Asn/c.5557G>A,Gat/Aat,MODERATE,COSM41596(12),0.066893,0.0159,rs1801516,0.23(T),0.015(B),1.89(L),-1.0617(T),,chr11,108175462,108175462,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp1853Asn/c.5557G>A|3056|ATM|protein_coding|CODING|NM_000051.3|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Melanoma,RCV000116427.3|RCV000131720.1,,0.0798,0.0965,0.162,0.10,0.03,0.14,,0.000000(D),0.000(P),"-0.72,-0.72(T,T)",0.0019(T),0.114,3.324076,5.52,5.52,0.591000,2.748000,6.342000,0.963000,1.000000,1.000000,19.8041
missense_variant,ATM,MISSENSE,NM_000051.3:p.Asn1983Ser/c.5948A>G,aAt/aGt,MODERATE,,1,1,rs659243,1(T),"0.0,0.0(B,B)",0.69(N),-0.9322(T),,chr11,108183167,108183167,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn1983Ser/c.5948A>G|3056|ATM|protein_coding|CODING|NM_000051.3|40|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.187974(N),1.000(P),"4.99,4.99(T,T)",0.0000(T),0.063,-0.745854,5.33,-0.136,-0.119000,-0.191000,-1.058000,0.830000,0.057000,0.001000,6.5307
missense_variant,EXPH5,MISSENSE,NM_015065.2:p.Asn1967Asp/c.5899A>G,Aat/Gat,MODERATE,,1,1,rs1943382,1(T),0.0(B),-2.125(N),-0.9347(T),,chr11,108380335,108380335,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn1967Asp/c.5899A>G|1989|EXPH5|protein_coding|CODING|NM_015065.2|6|1),"HUVEC:H3K27me3,NHEK:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000591(N),1.000(P),"1.4,1.4,1.4,1.4(T,T,T,T)",0.0000(T),0.148,0.585699,5.8,5.8,-0.213000,1.469000,3.806000,0.681000,0.995000,1.000000,15.1338
missense_variant,EXPH5,MISSENSE,NM_015065.2:p.Gly1663Arg/c.4987G>A,Gga/Aga,MODERATE,COSM147321(4),0.286342,0.6419,rs2640779,0.5(T),0.017(B),1.61(L),-1.1101(T),,chr11,108381247,108381247,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1663Arg/c.4987G>A|1989|EXPH5|protein_coding|CODING|NM_015065.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K36me3",,,,0.2515,0.3689,0.2465,0.18,0.06,0.24,,0.193156(N),1.000(P),"4.38,4.31,4.16,4.38,4.23(T,T,T,T,T)",0.0000(T),0.333,1.622865,4.36,3.44,0.650000,1.178000,1.616000,0.012000,0.004000,0.005000,11.0934
synonymous_variant,EXPH5,SILENT,NM_015065.2:p.Leu1530Leu/c.4590A>G,ttA/ttG,LOW,COSM3752122(1),0.0191693,0.001,rs79942405,,,,,,chr11,108381644,108381644,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1530Leu/c.4590A>G|1989|EXPH5|protein_coding|CODING|NM_015065.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K36me3",,,,0.0532,0.0101,0.0338,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,EXPH5,MISSENSE,NM_015065.2:p.Ser676Asn/c.2027G>A,aGc/aAc,MODERATE,COSM3752123(2),0.641174,0.8542,rs2846412,1(T),0.0(B),-1.155(N),-1.0210(T),,chr11,108384207,108384207,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser676Asn/c.2027G>A|1989|EXPH5|protein_coding|CODING|NM_015065.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.6155,0.5533,0.4384,0.50,0.66,0.42,,0.212613(N),1.000(P),"4.38,4.3,4.15,4.38,4.23,3.79(T,T,T,T,T,T)",0.0000(T),0.033,-2.111572,6.03,1.14,-1.396000,-0.041000,0.673000,0.004000,0.000000,0.006000,9.5688
missense_variant,EXPH5,MISSENSE,NM_015065.2:p.Glu137Val/c.410A>T,gAg/gTg,MODERATE,COSM3752124(1),0.252396,0.5804,rs2640785,0(D),0.836(P),2.125(M),-0.8877(T),,chr11,108409784,108409784,T,A,het,missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu137Val/c.410A>T|1989|EXPH5|protein_coding|CODING|NM_015065.2|3|1),"HUVEC:H3K27me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2178,0.3501,0.17,0.13,0.06,0.17,,0.035872(N),0.000(P),"3.92,3.84,3.92,3.74,1.02(T,T,T,T,T)",0.0000(T),0.553,4.322784,4.99,4.99,0.528000,2.012000,4.094000,0.948000,0.799000,0.997000,11.3852
missense_variant,EXPH5,MISSENSE,NM_015065.2:p.Arg19Gly/c.55A>G,Agg/Ggg,MODERATE,COSM147323(3),0.388179,0.3839,rs2640738,0.02(D),0.948(D),1.5(L),-0.9293(T),,chr11,108464209,108464209,T,C,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg19Gly/c.55A>G|1989|EXPH5|protein_coding|CODING|NM_015065.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,IMR90:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.4121,0.562,0.495,0.40,0.25,0.48,,0.004291(N),0.000(P),"4.26,4.26(T,T)",0.0000(T),0.411,3.737521,5.22,2.85,0.379000,0.298000,0.817000,0.989000,1.000000,1.000000,5.9861
synonymous_variant,ZC3H12C,SILENT,NM_033390.1:p.Arg484Arg/c.1452A>G,cgA/cgG,LOW,COSM3752137(2),0.220248,0.2004,rs1026608,,,,,,chr11,110035262,110035262,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg484Arg/c.1452A>G|883|ZC3H12C|protein_coding|CODING|NM_033390.1|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1922,0.2161,0.2724,0.24,0.21,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ZC3H12C,SILENT,NM_033390.1:p.Thr497Thr/c.1491A>G,acA/acG,LOW,COSM3998212(1),0.24401,0.2004,rs1026607,,,,,,chr11,110035301,110035301,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr497Thr/c.1491A>G|883|ZC3H12C|protein_coding|CODING|NM_033390.1|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1922,0.2248,0.2724,0.26,0.29,0.25,,,,,,,,,,,,,,,,
synonymous_variant,COLCA2,SILENT,NM_001271458.1:p.Ala216Ala/c.648A>G,gcA/gcG,LOW,COSM3752139(3),0.360623,0.4345,rs3087587,,,,,,chr11,111179054,111179054,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala119Ala/c.357A>G|154|COLCA2|protein_coding|CODING|NM_001136105.2|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala119Ala/c.357A>G|154|COLCA2|protein_coding|CODING|NM_001271457.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala216Ala/c.648A>G|251|COLCA2|protein_coding|CODING|NM_001271458.1|5|1)","IMR90:DNase1,NH-A:H3K27me3,HepG2:HNF4G,HSMM:DNase1,HMEC:H3K27me3,HepG2:HNF4A,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:DNase1",,,,0.409,0.4841,0.5567,0.43,0.14,0.56,,,,,,,,,,,,,,,,
synonymous_variant,BTG4,SILENT,NM_017589.3:p.Ala133Ala/c.399C>A,gcC/gcA,LOW,,0.978634,1,rs489078,,,,,,chr11,111368047,111368047,G,T,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala133Ala/c.399C>A|223|BTG4|protein_coding|CODING|NM_017589.3|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3",,,,1,0.9899,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LAYN,SILENT,NM_001258390.1:p.Pro143Pro/c.429A>G,ccA/ccG,LOW,,0.963858,0.999,rs634679,,,,,,chr11,111420364,111420364,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro143Pro/c.429A>G|382|LAYN|protein_coding|CODING|NM_001258390.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro135Pro/c.405A>G|374|LAYN|protein_coding|CODING|NM_178834.4|3|1),intron_variant(MODIFIER|||c.107-4922A>G|229|LAYN|protein_coding|CODING|NM_001258391.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,0.9841,1,0.96,0.89,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FDXACB1,SILENT,NM_138378.2:p.Phe200Phe/c.600T>C,ttT/ttC,LOW,COSM3998228(1),0.245208,0.1944,rs7124696,,,,,,chr11,111747297,111747297,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe200Phe/c.600T>C|624|FDXACB1|protein_coding|CODING|NM_138378.2|4|1),non_coding_exon_variant(MODIFIER|||n.768T>C||FDXACB1||CODING|NR_038364.1|3|1)","K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2188,0.3228,0.33,0.28,0.22,0.31,,,,,,,,,,,,,,,,
missense_variant,FDXACB1,MISSENSE,NM_138378.2:p.Ile87Asn/c.260T>A,aTc/aAc,MODERATE,,0.92472,0.9712,rs611010,1(T),0.0(B),-3.63(N),-0.9416(T),,chr11,111749349,111749349,A,T,het,"missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile87Asn/c.260T>A|624|FDXACB1|protein_coding|CODING|NM_138378.2|2|1),upstream_gene_variant(MODIFIER||599||150|C11orf1|protein_coding|CODING|NM_022761.2||1),intron_variant(MODIFIER|||n.497+336T>A||FDXACB1||CODING|NR_038364.1|1|1)","NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.9622,0.9049,0.832,0.86,0.92,0.83,,0.000000(N),0.000(P),2.03(T),0.0000(T),0.15,1.397531,6.17,6.17,-0.257000,1.157000,5.877000,0.919000,0.999000,1.000000,13.065
synonymous_variant,C11orf1,SILENT,NM_022761.2:p.Ser141Ser/c.423A>C,tcA/tcC,LOW,COSM3998231(1),0.239617,0.1905,rs1045282,0.03(D),,,-0.9406(T),,chr11,111754574,111754574,A,C,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser141Ser/c.423A>C|150|C11orf1|protein_coding|CODING|NM_022761.2|4|1),"NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2168,0.3069,0.3231,0.27,0.22,0.30,,,0.000(P),1.82(T),0.0000(T),.,1.389114,5.37,4.22,0.528000,1.017000,1.708000,0.994000,0.982000,0.960000,5.7886
missense_variant,SDHD,MISSENSE,NM_001276506.1:p.Gln124Arg/c.371A>G,cAg/cGg,MODERATE,,0.945487,0.999,rs592626,0.17(T),,,-0.8671(T),,chr11,111963860,111963860,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln124Arg/c.371A>G|143|SDHD|protein_coding|CODING|NM_001276506.1|4|1),intron_variant(MODIFIER|||c.170-1669A>G|85|SDHD|protein_coding|CODING|NM_001276503.1|2|1),intron_variant(MODIFIER|||c.198-1669A>G|120|SDHD|protein_coding|CODING|NM_001276504.1|2|1),intron_variant(MODIFIER|||c.315-1669A>G|159|SDHD|protein_coding|CODING|NM_003002.3|3|1),intron_variant(MODIFIER|||n.453-1669A>G||SDHD||CODING|NR_077060.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9755,0.999,,,,,,1.000(P),-2.93(D),0.0000(T),0.117,-0.668100,0.149,-0.298,-2.594000,-2.594000,-2.272000,0.000000,0.000000,0.001000,.
synonymous_variant,IL18,SILENT,NM_001562.3:p.Ser35Ser/c.105A>C,tcA/tcC,LOW,COSM3752140(2),0.219848,0.1181,rs549908,,,,,,chr11,112020916,112020916,T,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser31Ser/c.93A>C|189|IL18|protein_coding|CODING|NM_001243211.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser35Ser/c.105A>C|193|IL18|protein_coding|CODING|NM_001562.3|4|1)",NHEK:H3K36me3,,,,0.1994,0.3357,0.3082,0.27,0.20,0.30,,,,,,,,,,,,,,,,
synonymous_variant,TEX12,SILENT,NM_031275.4:p.Arg12Arg/c.36A>G,agA/agG,LOW,,0.16274,0.1171,rs360712,,,,,,chr11,112040027,112040027,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg12Arg/c.36A>G|123|TEX12|protein_coding|CODING|NM_031275.4|2|1),K562:H3K27me3,,,,0.183,0.2637,0.2664,0.20,0.09,0.25,,,,,,,,,,,,,,,,
missense_variant,BCO2,MISSENSE,NM_031938.5:p.Arg49Gly/c.145C>G,Cgg/Ggg,MODERATE,,0.0183706,0,rs35361223,0.42(T),"0.039,0.018,0.039(B,B,B)",0(N),-0.4216(T),,chr11,112050057,112050057,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg15Gly/c.43C>G|545|BCO2|protein_coding|CODING|NM_001037290.2|2|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg15Gly/c.43C>G|539|BCO2|protein_coding|CODING|NM_001256397.1|2|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg49Gly/c.145C>G|506|BCO2|protein_coding|CODING|NM_001256398.1|2|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg49Gly/c.145C>G|579|BCO2|protein_coding|CODING|NM_031938.5|2|1),intron_variant(MODIFIER|||c.-23+2876C>G|474|BCO2|protein_coding|CODING|NM_001256400.1|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HSMM:H3K27me3",,,,0.0184,0.0317,0.0487,0.04,0.01,0.05,,0.000000(N),1.000(N),"-3.62,-3.6,-3.6,-3.6,-3.6,-3.6(D,D,D,D,D,D)",0.2001(T),0.166,1.597220,5.27,0.32,-0.444000,0.109000,-0.126000,0.027000,0.000000,0.000000,2.5264
missense_variant,BCO2,MISSENSE,NM_031938.5:p.Leu231Pro/c.692T>C,cTg/cCg,MODERATE,,0.970447,1,rs10891338,1(T),"0.0,0.0(B,B)",-2.85(N),-0.9228(T),,chr11,112065434,112065434,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu197Pro/c.590T>C|545|BCO2|protein_coding|CODING|NM_001037290.2|5|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu197Pro/c.590T>C|539|BCO2|protein_coding|CODING|NM_001256397.1|5|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu126Pro/c.377T>C|474|BCO2|protein_coding|CODING|NM_001256400.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu231Pro/c.692T>C|579|BCO2|protein_coding|CODING|NM_031938.5|5|1),intron_variant(MODIFIER|||c.517+1014T>C|506|BCO2|protein_coding|CODING|NM_001256398.1|3|1)",,,,,0.9479,0.9899,0.9801,0.97,0.95,0.98,,0.000001(N),0.000(P),"-3.49,-3.49,-3.49,-3.49,-3.49,-3.49(D,D,D,D,D,D)",0.0000(T),0.197,-0.198608,5.11,4.2,-0.226000,0.765000,2.596000,0.727000,0.983000,0.025000,10.4058
missense_variant,BCO2,MISSENSE,NM_031938.5:p.Ile548Leu/c.1642A>C,Atc/Ctc,MODERATE,,0.986621,1,rs2217401,1(T),"0.0,0.0,0.0(B,B,B)",-2.76(N),-0.9308(T),,chr11,112088499,112088499,A,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile514Leu/c.1540A>C|545|BCO2|protein_coding|CODING|NM_001037290.2|12|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile508Leu/c.1522A>C|539|BCO2|protein_coding|CODING|NM_001256397.1|12|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile475Leu/c.1423A>C|506|BCO2|protein_coding|CODING|NM_001256398.1|10|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile443Leu/c.1327A>C|474|BCO2|protein_coding|CODING|NM_001256400.1|11|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile548Leu/c.1642A>C|579|BCO2|protein_coding|CODING|NM_031938.5|12|1)",GM12878:H3K36me3,,,,1,0.9942,0.998,0.98,0.95,1.00,,0.000000(N),1.000(P),"-2.58,-2.58,-2.58,-2.58,-2.58,-2.58,-2.58(D,D,D,D,D,D,D)",0.0000(T),0.32,-0.681876,5.95,5.04,-0.121000,0.872000,4.563000,0.145000,0.867000,1.000000,7.527
missense_variant,NCAM1,MISSENSE,NM_001242607.1:p.Phe7Leu/c.19T>C,Ttc/Ctc,MODERATE,,1,1,rs7105734,,,,,,chr11,112832353,112832353,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe7Leu/c.19T>C|848|NCAM1|protein_coding|CODING|NM_000615.6|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe7Leu/c.19T>C|761|NCAM1|protein_coding|CODING|NM_001076682.3|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe7Leu/c.19T>C|884|NCAM1|protein_coding|CODING|NM_001242607.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe7Leu/c.19T>C|726|NCAM1|protein_coding|CODING|NM_001242608.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe7Leu/c.19T>C|858|NCAM1|protein_coding|CODING|NM_181351.4|2|1),intron_variant(MODIFIER|||n.252-155A>G||LOC101928847||NON_CODING|NR_120563.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,NH-A:H3K4me3,HSMM:H3K9ac,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,NCAM1,SILENT,NM_001242607.1:p.Ile8Ile/c.24T>C,atT/atC,LOW,,1,1,rs6589347,,,,,,chr11,112832358,112832358,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile8Ile/c.24T>C|848|NCAM1|protein_coding|CODING|NM_000615.6|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile8Ile/c.24T>C|761|NCAM1|protein_coding|CODING|NM_001076682.3|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile8Ile/c.24T>C|884|NCAM1|protein_coding|CODING|NM_001242607.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile8Ile/c.24T>C|726|NCAM1|protein_coding|CODING|NM_001242608.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile8Ile/c.24T>C|858|NCAM1|protein_coding|CODING|NM_181351.4|2|1),intron_variant(MODIFIER|||n.252-160A>G||LOC101928847||NON_CODING|NR_120563.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,NH-A:H3K4me3,HSMM:H3K9ac,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,NCAM1,SILENT,NM_001242607.1:p.Val576Val/c.1728T>G,gtT/gtG,LOW,COSM3752143(1),0.667931,0.7312,rs386600109,,,,,,chr11,113103996,113103996,T,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val540Val/c.1620T>G|848|NCAM1|protein_coding|CODING|NM_000615.6|13|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val540Val/c.1620T>G|761|NCAM1|protein_coding|CODING|NM_001076682.3|13|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val576Val/c.1728T>G|884|NCAM1|protein_coding|CODING|NM_001242607.1|15|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val540Val/c.1620T>G|726|NCAM1|protein_coding|CODING|NM_001242608.1|13|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val550Val/c.1650T>G|858|NCAM1|protein_coding|CODING|NM_181351.4|14|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5634,0.5014,0.506,0.64,0.85,0.53,,,,,,,,,,,,,,,,
missense_variant,TMPRSS5,MISSENSE,NM_030770.3:p.Phe369Leu/c.1105T>C,Ttc/Ctc,MODERATE,COSM4145315(2),0.770168,0.748,rs7110736,0.31(T),"0.0,0.0,0.0,0.001(B,B,B,B)",-1.26(N),-0.9638(T),,chr11,113561054,113561054,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe256Leu/c.766T>C|344|TMPRSS5|protein_coding|CODING|NM_001288749.1|8|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe325Leu/c.973T>C|413|TMPRSS5|protein_coding|CODING|NM_001288750.1|10|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe360Leu/c.1078T>C|448|TMPRSS5|protein_coding|CODING|NM_001288751.1|11|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe300Leu/c.898T>C|388|TMPRSS5|protein_coding|CODING|NM_001288752.1|9|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe369Leu/c.1105T>C|457|TMPRSS5|protein_coding|CODING|NM_030770.3|11|1),non_coding_exon_variant(MODIFIER|||n.1052T>C||TMPRSS5||CODING|NR_110046.1|9|1),non_coding_exon_variant(MODIFIER|||n.1052T>C||TMPRSS5||CODING|NR_110047.1|9|1)","K562:H3K27ac,HSMM:H3K27ac,K562:H3K4me1,HMEC:H3K27ac,HSMM:H3K9ac,HSMM:H3K4me1,HeLa-S3:H3K27ac",,,,0.6769,0.7594,0.6362,0.74,0.91,0.65,,0.002004(N),0.998(P),"-2.21,-2.21,-2.21,-2.21,-2.21,-2.21,-2.21(D,D,D,D,D,D,D)",0.0000(T),0.063,0.807900,4.21,3.21,-0.684000,1.010000,2.355000,0.312000,1.000000,1.000000,6.8897
synonymous_variant,TMPRSS5,SILENT,NM_030770.3:p.Leu368Leu/c.1102T>C,Ttg/Ctg,LOW,COSM4145318(1),0.770168,0.748,rs7110738,,,,,,chr11,113561057,113561057,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu255Leu/c.763T>C|344|TMPRSS5|protein_coding|CODING|NM_001288749.1|8|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu324Leu/c.970T>C|413|TMPRSS5|protein_coding|CODING|NM_001288750.1|10|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu359Leu/c.1075T>C|448|TMPRSS5|protein_coding|CODING|NM_001288751.1|11|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu299Leu/c.895T>C|388|TMPRSS5|protein_coding|CODING|NM_001288752.1|9|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu368Leu/c.1102T>C|457|TMPRSS5|protein_coding|CODING|NM_030770.3|11|1),non_coding_exon_variant(MODIFIER|||n.1049T>C||TMPRSS5||CODING|NR_110046.1|9|1),non_coding_exon_variant(MODIFIER|||n.1049T>C||TMPRSS5||CODING|NR_110047.1|9|1)","K562:H3K27ac,HSMM:H3K27ac,K562:H3K4me1,HMEC:H3K27ac,HSMM:H3K9ac,HSMM:H3K4me1,HeLa-S3:H3K27ac",,,,0.6769,0.7594,0.6362,0.73,0.91,0.65,,,,,,,,,,,,,,,,
synonymous_variant,TMPRSS5,SILENT,NM_030770.3:p.Ala39Ala/c.117A>G,gcA/gcG,LOW,,0.770767,0.749,rs4936280,,,,,,chr11,113570405,113570405,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala30Ala/c.90A>G|448|TMPRSS5|protein_coding|CODING|NM_001288751.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala39Ala/c.117A>G|388|TMPRSS5|protein_coding|CODING|NM_001288752.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala39Ala/c.117A>G|457|TMPRSS5|protein_coding|CODING|NM_030770.3|3|1),5_prime_UTR_variant(MODIFIER||16|c.-16A>G|344|TMPRSS5|protein_coding|CODING|NM_001288749.1|2|1),5_prime_UTR_variant(MODIFIER||16|c.-16A>G|413|TMPRSS5|protein_coding|CODING|NM_001288750.1|2|1),intron_variant(MODIFIER|||n.153-656A>G||TMPRSS5||CODING|NR_110046.1|1|1),intron_variant(MODIFIER|||n.153-656A>G||TMPRSS5||CODING|NR_110047.1|1|1)",HMEC:H3K27me3,,,,0.6769,0.7565,0.6352,0.74,0.92,0.65,,,,,,,,,,,,,,,,
synonymous_variant,USP28,SILENT,NM_020886.3:p.Thr1048Thr/c.3144A>T,acA/acT,LOW,,0.970248,1,rs2459971,,,,,,chr11,113670052,113670052,T,A,hom,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr891Thr/c.2673A>T|920|USP28|protein_coding|CODING|NM_001301029.1|22|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr1048Thr/c.3144A>T|1077|USP28|protein_coding|CODING|NM_020886.3|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,1,0.97,0.90,1.00,,,,,,,,,,,,,,,,
synonymous_variant,USP28,SILENT,NM_020886.3:p.Ser735Ser/c.2205G>A,tcG/tcA,LOW,,0.790535,0.874,rs2465647,,,,-1.0658(T),,chr11,113679119,113679119,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser610Ser/c.1830G>A|920|USP28|protein_coding|CODING|NM_001301029.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser735Ser/c.2205G>A|1077|USP28|protein_coding|CODING|NM_020886.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8241,0.853,0.837,0.76,0.66,0.82,,,0.000(P),,0.0000(T),.,0.768964,5.36,-10.7,-1.213000,-5.020000,-4.768000,0.930000,0.007000,0.000000,3.7253
missense_variant,HTR3B,MISSENSE,NM_006028.4:p.Tyr129Ser/c.386A>C,tAc/tCc,MODERATE,COSM3752147(1),0.354433,0.1796,rs1176744,,,-2.585(N),-0.9416(T),,chr11,113803028,113803028,A,C,het,missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr129Ser/c.386A>C|441|HTR3B|protein_coding|CODING|NM_006028.4|5|1),HUVEC:H3K27me3,,,,0.4049,0.4078,0.3082,0.36,0.43,0.32,,,0.999(P),,0.0000(T),.,-1.382329,5.61,4.64,-0.215000,0.644000,4.628000,0.238000,0.029000,1.000000,8.9028
missense_variant,NXPE1,MISSENSE,NM_152315.3:p.Gly211Arg/c.631G>A,Gga/Aga,MODERATE,COSM1179754(1),0.372204,0.6687,rs10891692,0(D),1.0(D),3.435(M),-0.8567(T),,chr11,114393652,114393652,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly211Arg/c.631G>A|405|NXPE1|protein_coding|CODING|NM_152315.3|5|1),,,,,0.3098,0.3069,0.337,0.32,0.27,0.34,,0.000005(D),0.000(P),"-0.73,-0.73,-0.73(T,T,T)",0.0000(T),0.559,4.332185,4.46,4.46,0.650000,2.408000,5.585000,0.970000,1.000000,1.000000,15.4186
missense_variant,NXPE4,MISSENSE,NM_001077639.1:p.Ala451Val/c.1352C>T,gCc/gTc,MODERATE,COSM3998238(1),0.360024,0.6746,rs10891705,0.56(T),0.246(B),1.41(L),-0.9964(T),,chr11,114441943,114441943,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala451Val/c.1352C>T|544|NXPE4|protein_coding|CODING|NM_001077639.1|6|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala167Val/c.500C>T|260|NXPE4|protein_coding|CODING|NM_017678.2|6|1)",GM12878:H3K27me3,,,,0.3098,0.2968,0.332,0.31,0.24,0.34,,0.230369(N),0.977(P),"2.06,2.06(T,T)",0.0000(T),0.024,1.599017,5.51,-0.856,-1.074000,-0.347000,0.241000,0.984000,0.967000,0.038000,6.3911
missense_variant,NXPE4,MISSENSE,NM_001077639.1:p.Tyr398His/c.1192T>C,Tat/Cat,MODERATE,COSM3998239(1),0.653954,0.6746,rs550897,1(T),0.0(B),-3.415(N),-0.9774(T),,chr11,114442103,114442103,A,G,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr398His/c.1192T>C|544|NXPE4|protein_coding|CODING|NM_001077639.1|6|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr114His/c.340T>C|260|NXPE4|protein_coding|CODING|NM_017678.2|6|1)",GM12878:H3K27me3,,,,0.5501,0.5605,0.4682,0.60,0.84,0.49,,0.000005(N),1.000(P),"2.82,2.82(T,T)",0.0000(T),0.093,-0.668989,5.44,4.54,-0.166000,0.804000,4.178000,0.807000,0.201000,0.999000,11.2986
synonymous_variant,NXPE2,SILENT,NM_182495.5:p.Gly140Gly/c.420A>G,ggA/ggG,LOW,COSM4145329(1),0.76258,0.8224,rs1712838,,,,,,chr11,114569054,114569054,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly140Gly/c.420A>G|559|NXPE2|protein_coding|CODING|NM_182495.5|3|1),HepG2:H3K27me3,,,,0.7556,0.8329,0.7773,0.76,0.72,0.78,,,,,,,,,,,,,,,,
missense_variant,NXPE2,MISSENSE,NM_182495.5:p.Asn351Ile/c.1052A>T,aAt/aTt,MODERATE,COSM3752149(1),0.304912,0.378,rs1356428,0.13(T),0.003(B),0.695(N),-0.9034(T),,chr11,114576626,114576626,A,T,hom,missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn351Ile/c.1052A>T|559|NXPE2|protein_coding|CODING|NM_182495.5|5|1),,,,,0.3834,0.3343,0.3956,0.29,0.14,0.36,,0.118463(N),1.000(P),2.7(T),0.0000(T),0.051,0.639102,5.24,-4.15,0.460000,-0.279000,-0.551000,0.481000,0.000000,0.000000,0.8123
synonymous_variant,BUD13,SILENT,NM_032725.3:p.Pro160Pro/c.480G>A,ccG/ccA,LOW,COSM3752152(2),0.545128,0.381,rs918144,,,,,,chr11,116633825,116633825,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro160Pro/c.480G>A|619|BUD13|protein_coding|CODING|NM_032725.3|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro160Pro/c.480G>A|485|BUD13|protein_coding|CODING|NM_001159736.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5583,0.6023,0.4821,0.53,0.62,0.48,,,,,,,,,,,,,,,,
missense_variant,APOA4,MISSENSE,NM_000482.3:p.Ser147Asn/c.440G>A,aGc/aAc,MODERATE,,0.759185,0.6379,rs5104,0.87(T),,,-1.0205(T),,chr11,116692334,116692334,C,T,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser147Asn/c.440G>A|396|APOA4|protein_coding|CODING|NM_000482.3|3|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.635,0.7565,0.826,0.87,0.88,0.87,,0.992434(N),1.000(P),-0.63(T),0.0000(T),0.004,-1.776224,5.02,-7.01,-1.390000,-1.663000,-0.297000,0.029000,0.001000,0.000000,9.1375
synonymous_variant,APOA4,SILENT,NM_000482.3:p.Thr29Thr/c.87G>A,acG/acA,LOW,,0.719848,0.5823,rs5092,,,,,,chr11,116693464,116693464,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr29Thr/c.87G>A|396|APOA4|protein_coding|CODING|NM_000482.3|2|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.592,0.7233,0.7982,0.84,0.85,0.83,,,,,,,,,,,,,,,,
synonymous_variant,APOC3,SILENT,NM_000040.1:p.Gly34Gly/c.102T>C,ggT/ggC,LOW,COSM4145339(1),0.597045,0.3958,rs4520,,,,,,chr11,116701535,116701535,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly34Gly/c.102T>C|99|APOC3|protein_coding|CODING|NM_000040.1|3|1),"HepG2:H3K4me2,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HepG2:H3K27me3",,,,0.546,0.5706,0.7048,0.74,0.74,0.74,,,,,,,,,,,,,,,,
missense_variant,PAFAH1B2,MISSENSE,NM_001184746.1:p.Val151Met/c.451G>A,Gtg/Atg,MODERATE,,0.750599,0.495,rs4936367,0.09(T),0.002(B),-0.205(N),-1.0021(T),,chr11,117042377,117042377,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val151Met/c.451G>A|202|PAFAH1B2|protein_coding|CODING|NM_001184746.1|6|1),downstream_gene_variant(MODIFIER||616||229|PAFAH1B2|protein_coding|CODING|NM_002572.3||1),downstream_gene_variant(MODIFIER||616|||PAFAH1B2||CODING|NR_110282.1||1),intron_variant(MODIFIER|||c.394-3232G>A|132|PAFAH1B2|protein_coding|CODING|NM_001184748.1|5|1),intron_variant(MODIFIER|||c.412-4245G>A|155|PAFAH1B2|protein_coding|CODING|NM_001184747.1|5|1),intron_variant(MODIFIER|||n.554-4245G>A||PAFAH1B2||CODING|NR_110268.1|5|1),non_coding_exon_variant(MODIFIER|||n.593G>A||PAFAH1B2||CODING|NR_110269.1|6|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.6513,0.7968,0.8618,,,,,,1.000(P),,0.0000(T),0.024,1.275440,3.43,-6.87,-3.061000,-4.019000,-3.848000,0.002000,0.000000,0.000000,1.1364
synonymous_variant,TAGLN,SILENT,NM_001001522.1:p.Lys89Lys/c.267G>A,aaG/aaA,LOW,COSM3998245(1),0.0742812,0.0823,rs12970,,,,-1.0063(T),,chr11,117074109,117074109,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys89Lys/c.267G>A|201|TAGLN|protein_coding|CODING|NM_001001522.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys89Lys/c.267G>A|201|TAGLN|protein_coding|CODING|NM_003186.3|3|1),upstream_gene_variant(MODIFIER||1479|||LOC100652768||NON_CODING|NR_045215.1||1),downstream_gene_variant(MODIFIER||1678||785|PCSK7|protein_coding|CODING|NM_004716.3||1)","H1ESC:PolII,H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.0605,0.0706,0.05,0.04,0.06,,,1.000(D),,0.0178(T),.,1.230759,4.84,4.84,0.561000,2.666000,2.647000,0.998000,1.000000,1.000000,17.4726
synonymous_variant,PCSK7,SILENT,NM_004716.3:p.Asp732Asp/c.2196C>T,gaC/gaT,LOW,COSM3773577(1),,,rs139944026,,,,,,chr11,117076875,117076875,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp732Asp/c.2196C>T|785|PCSK7|protein_coding|CODING|NM_004716.3|17|1),downstream_gene_variant(MODIFIER||1367||201|TAGLN|protein_coding|CODING|NM_001001522.1||1),downstream_gene_variant(MODIFIER||1367||201|TAGLN|protein_coding|CODING|NM_003186.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.04,0.03,0.05,,,,,,,,,,,,,,,,
synonymous_variant,PCSK7,SILENT,NM_004716.3:p.Thr679Thr/c.2037T>C,acT/acC,LOW,COSM3998246(1),0.5623,0.6538,rs28590104,,,,,,chr11,117077034,117077034,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr679Thr/c.2037T>C|785|PCSK7|protein_coding|CODING|NM_004716.3|17|1),downstream_gene_variant(MODIFIER||1526||201|TAGLN|protein_coding|CODING|NM_001001522.1||1),downstream_gene_variant(MODIFIER||1526||201|TAGLN|protein_coding|CODING|NM_003186.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.637,0.4308,0.3091,,,,,,,,,,,,,,,,,,,
synonymous_variant,PCSK7,SILENT,NM_004716.3:p.Ser285Ser/c.855C>T,agC/agT,LOW,COSM3998247(1),0.249401,0.1508,rs2277287,,,,,,chr11,117096652,117096652,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser285Ser/c.855C>T|785|PCSK7|protein_coding|CODING|NM_004716.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.2666,0.1928,0.24,0.30,0.21,,,,,,,,,,,,,,,,
missense_variant,BACE1,MISSENSE,NM_012104.4:p.Cys481Arg/c.1441T>C,Tgc/Cgc,MODERATE,,1,1,rs539765,0.4(T),"0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",-0.805(N),-0.9587(T),,chr11,117160347,117160347,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys381Arg/c.1141T>C|401|BACE1|protein_coding|CODING|NM_001207048.1|8|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys356Arg/c.1066T>C|376|BACE1|protein_coding|CODING|NM_001207049.1|8|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys481Arg/c.1441T>C|501|BACE1|protein_coding|CODING|NM_012104.4|9|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys437Arg/c.1309T>C|457|BACE1|protein_coding|CODING|NM_138971.3|9|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys456Arg/c.1366T>C|476|BACE1|protein_coding|CODING|NM_138972.3|9|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys412Arg/c.1234T>C|432|BACE1|protein_coding|CODING|NM_138973.3|9|1),upstream_gene_variant(MODIFIER||1715|||BACE1-AS||NON_CODING|NR_037803.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),0.004(P),"0.61,0.35,2.08,0.67,0.35,0.41(T,T,T,T,T,T)",0.0000(T),0.31,1.690691,5.65,5.65,-0.119000,1.400000,7.626000,0.997000,1.000000,1.000000,13.9479
synonymous_variant,BACE1,SILENT,NM_012104.4:p.Val262Val/c.786G>C,gtG/gtC,LOW,COSM3752154(1),0.553514,0.6498,rs638405,,,,-0.9557(T),,chr11,117163824,117163824,C,G,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val162Val/c.486G>C|401|BACE1|protein_coding|CODING|NM_001207048.1|4|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val137Val/c.411G>C|376|BACE1|protein_coding|CODING|NM_001207049.1|4|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val262Val/c.786G>C|501|BACE1|protein_coding|CODING|NM_012104.4|5|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val218Val/c.654G>C|457|BACE1|protein_coding|CODING|NM_138971.3|5|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val237Val/c.711G>C|476|BACE1|protein_coding|CODING|NM_138972.3|5|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val193Val/c.579G>C|432|BACE1|protein_coding|CODING|NM_138973.3|5|1),downstream_gene_variant(MODIFIER||967|||BACE1-AS||NON_CODING|NR_037803.1||1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6309,0.549,0.4076,0.44,0.52,0.40,,,0.000(P),,0.0000(T),.,1.322171,6.07,0.58,-0.768000,0.414000,0.011000,0.977000,1.000000,0.957000,1.3856
missense_variant,CEP164,MISSENSE,NM_014956.4:p.Ser407Phe/c.1220C>T,tCc/tTc,MODERATE,,,,rs150314805,0(D),"0.656,0.584,0.912(P,P,D)",1.995(M),-0.3082(T),,chr11,117244534,117244534,C,T,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser407Phe/c.1220C>T|1455|CEP164|protein_coding|CODING|NM_001271933.1|9|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser407Phe/c.1220C>T|1460|CEP164|protein_coding|CODING|NM_014956.4|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.094488(N),0.614(N),0.17(T),0.3276(T),0.329,3.632805,5.18,5.18,0.655000,2.679000,1.958000,0.867000,0.998000,0.745000,14.0566
missense_variant,CEP164,MISSENSE,NM_014956.4:p.His477Arg/c.1430A>G,cAc/cGc,MODERATE,COSM3752156(1),0.013778,0,rs117083334,0.88(T),"0.0,0.001,0.001(B,B,B)",0.41(N),-1.0344(T),,chr11,117252437,117252437,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His480Arg/c.1439A>G|1455|CEP164|protein_coding|CODING|NM_001271933.1|12|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His477Arg/c.1430A>G|1460|CEP164|protein_coding|CODING|NM_014956.4|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0259,0.0398,0.02,0.01,0.03,,0.092962(N),1.000(N),0.46(T),0.0169(T),0.196,-0.461349,5.04,-7.58,-0.441000,-1.341000,-2.333000,0.006000,0.000000,0.000000,3.6757
synonymous_variant,CEP164,SILENT,NM_014956.4:p.Pro494Pro/c.1482T>C,ccT/ccC,LOW,,0.901358,0.8452,rs897836,,,,,,chr11,117252489,117252489,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro497Pro/c.1491T>C|1455|CEP164|protein_coding|CODING|NM_001271933.1|12|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro494Pro/c.1482T>C|1460|CEP164|protein_coding|CODING|NM_014956.4|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8436,0.9092,0.9314,0.94,0.95,0.93,,,,,,,,,,,,,,,,
synonymous_variant,CEP164,SILENT,NM_014956.4:p.Ser1433Ser/c.4299G>T,tcG/tcT,LOW,,0.908347,0.8284,rs522885,,,,,,chr11,117282800,117282800,G,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser1428Ser/c.4284G>T|1455|CEP164|protein_coding|CODING|NM_001271933.1|32|1),synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser1433Ser/c.4299G>T|1460|CEP164|protein_coding|CODING|NM_014956.4|33|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8456,0.9251,0.9702,0.96,0.96,0.97,,,,,,,,,,,,,,,,
synonymous_variant,DSCAML1,SILENT,NM_020693.2:p.Thr1773Thr/c.5319A>G,acA/acG,LOW,,0.0652955,0.0635,rs76347292,,,,,,chr11,117303108,117303108,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1773Thr/c.5319A>G|2113|DSCAML1|protein_coding|CODING|NM_020693.2|30|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1728,0.049,0.0557,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,DSCAML1,MISSENSE,NM_020693.2:p.Arg1400Gln/c.4199G>A,cGg/cAg,MODERATE,COSM3985955(1),0.000998403,0,rs61730454,0.2(T),0.997(D),1.77(L),-0.3687(T),,chr11,117310107,117310107,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1400Gln/c.4199G>A|2113|DSCAML1|protein_coding|CODING|NM_020693.2|23|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0.0029,0.002,0.00,0.00,0.01,,,1.000(D),"-0.24,-0.24(T,T)",0.3493(T),0.549,4.675090,4.89,4.89,0.561000,2.549000,5.917000,0.705000,1.000000,1.000000,18.2491
synonymous_variant,DSCAML1,SILENT,NM_020693.2:p.Gln1127Gln/c.3381A>G,caA/caG,LOW,COSM4145359(1),0.735823,0.8958,rs538847,,,,,,chr11,117335722,117335722,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln1127Gln/c.3381A>G|2113|DSCAML1|protein_coding|CODING|NM_020693.2|17|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6871,0.6787,0.501,0.62,0.79,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TMPRSS13,SILENT,NM_001077263.2:p.Ser311Ser/c.933T>C,tcT/tcC,LOW,,0.916733,0.875,rs2155194,,,,,,chr11,117781435,117781435,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser311Ser/c.933T>C|567|TMPRSS13|protein_coding|CODING|NM_001077263.2|7|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser276Ser/c.828T>C|532|TMPRSS13|protein_coding|CODING|NM_001206789.1|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser311Ser/c.933T>C|491|TMPRSS13|protein_coding|CODING|NM_001206790.1|7|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser311Ser/c.933T>C|563|TMPRSS13|protein_coding|CODING|NM_001244995.1|7|1)","HUVEC:H3K27me3,K562:CTCF,K562:TFIIIC-110,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.8691,0.9524,0.9682,0.96,0.94,0.97,,,,,,,,,,,,,,,,
synonymous_variant,IL10RA,SILENT,NM_001558.3:p.Ala153Ala/c.459A>G,gcA/gcG,LOW,COSM3752159(1),0.516773,0.5536,rs2256111,,,,,,chr11,117864047,117864047,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala153Ala/c.459A>G|578|IL10RA|protein_coding|CODING|NM_001558.3|4|1),non_coding_exon_variant(MODIFIER|||n.666A>G||IL10RA||CODING|NR_026691.1|5|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5358,0.5663,0.506,0.50,0.47,0.52,,,,,,,,,,,,,,,,
missense_variant,IL10RA,MISSENSE,NM_001558.3:p.Arg351Gly/c.1051A>G,Agg/Ggg,MODERATE,COSM3752160(1),0.811102,0.9931,rs2229113,0.71(T),"0.0,0.0(B,B)",-1.32(N),-1.0023(T),,chr11,117869670,117869670,A,G,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg351Gly/c.1051A>G|578|IL10RA|protein_coding|CODING|NM_001558.3|7|1),non_coding_exon_variant(MODIFIER|||n.1258A>G||IL10RA||CODING|NR_026691.1|8|1)","GM12878:H3K27ac,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,GM12878:H3K4me1,CD4:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7444,0.8141,0.6829,0.73,0.81,0.69,,0.077009(N),1.000(P),"1.77,1.77,1.77(T,T,T)",0.0000(T),0.162,0.616388,5.66,1.13,-0.213000,0.073000,0.038000,0.000000,0.000000,0.000000,5.621
missense_variant,TMPRSS4,MISSENSE,NM_019894.3:p.Val208Gly/c.623T>G,gTg/gGg,MODERATE,,0.979233,0.995,rs1941635,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-3.72(N),-0.9682(T),,chr11,117982495,117982495,T,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val203Gly/c.608T>G|432|TMPRSS4|protein_coding|CODING|NM_001083947.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val206Gly/c.617T>G|435|TMPRSS4|protein_coding|CODING|NM_001173551.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val168Gly/c.503T>G|397|TMPRSS4|protein_coding|CODING|NM_001173552.1|7|1),missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val183Gly/c.548T>G|412|TMPRSS4|protein_coding|CODING|NM_001290094.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val61Gly/c.182T>G|290|TMPRSS4|protein_coding|CODING|NM_001290096.1|8|1),missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val208Gly/c.623T>G|437|TMPRSS4|protein_coding|CODING|NM_019894.3|8|1),non_coding_exon_variant(MODIFIER|||n.908T>G||TMPRSS4||CODING|NR_110734.1|8|1)","GM06990:H3K27me3,HepG2:H3K27me3",,,,0.9652,0.9669,0.9672,0.97,0.99,0.96,,0.000012(N),0.411(P),"1.73,1.73,1.73,1.73,1.73,1.73(T,T,T,T,T,T)",0.0000(T),0.424,-1.518623,4.85,3.94,-0.167000,0.477000,5.822000,0.023000,0.025000,1.000000,7.2012
synonymous_variant,TMPRSS4,SILENT,NM_019894.3:p.Ser405Ser/c.1215T>C,agT/agC,LOW,COSM3998252(1),0.783347,0.5734,rs642215,,,,,,chr11,117988082,117988082,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser400Ser/c.1200T>C|432|TMPRSS4|protein_coding|CODING|NM_001083947.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser403Ser/c.1209T>C|435|TMPRSS4|protein_coding|CODING|NM_001173551.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser365Ser/c.1095T>C|397|TMPRSS4|protein_coding|CODING|NM_001173552.1|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser380Ser/c.1140T>C|412|TMPRSS4|protein_coding|CODING|NM_001290094.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser258Ser/c.774T>C|290|TMPRSS4|protein_coding|CODING|NM_001290096.1|12|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser405Ser/c.1215T>C|437|TMPRSS4|protein_coding|CODING|NM_019894.3|12|1),non_coding_exon_variant(MODIFIER|||n.1357T>C||TMPRSS4||CODING|NR_110734.1|11|1)","HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6155,0.9207,0.9095,0.91,0.90,0.91,,,,,,,,,,,,,,,,
missense_variant,AMICA1,MISSENSE,NM_001098526.1:p.Val193Ala/c.578T>C,gTg/gCg,MODERATE,COSM3927693(3),0.802516,0.6736,rs1793174,0.99(T),"0.003,0.015,0.025,0.009(B,B,B,B)",2.015(M),-0.9024(T),,chr11,118074337,118074337,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val193Ala/c.578T>C|394|AMICA1|protein_coding|CODING|NM_001098526.1|6|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val154Ala/c.461T>C|355|AMICA1|protein_coding|CODING|NM_001286570.1|5|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val154Ala/c.461T>C|355|AMICA1|protein_coding|CODING|NM_001286571.1|5|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val183Ala/c.548T>C|384|AMICA1|protein_coding|CODING|NM_153206.2|5|1),non_coding_exon_variant(MODIFIER|||n.980T>C||AMICA1||CODING|NR_104479.1|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27ac,CD4:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8436,0.7954,0.7356,0.81,0.90,0.76,,0.107954(N),1.000(P),"-0.07,-0.07,-0.07,-0.07(T,T,T,T)",0.0000(T),0.029,-1.604930,4.16,-8.32,-3.383000,-5.640000,-1.995000,0.001000,0.000000,0.000000,1.4872
missense_variant,AMICA1,MISSENSE,NM_001098526.1:p.Ile94Asn/c.281T>A,aTc/aAc,MODERATE,COSM3927694(3),0.467452,0.5387,rs17121881,0.24(T),"0.1,0.695,0.695,0.746(B,P,P,P)",1.955(M),-0.8936(T),,chr11,118081345,118081345,A,T,het,"missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile94Asn/c.281T>A|394|AMICA1|protein_coding|CODING|NM_001098526.1|4|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile55Asn/c.164T>A|355|AMICA1|protein_coding|CODING|NM_001286570.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile55Asn/c.164T>A|355|AMICA1|protein_coding|CODING|NM_001286571.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile84Asn/c.251T>A|384|AMICA1|protein_coding|CODING|NM_153206.2|3|1),non_coding_exon_variant(MODIFIER|||n.683T>A||AMICA1||CODING|NR_104479.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7658,0.487,0.5298,0.45,0.20,0.57,,0.404776(N),1.000(P),"-0.11,-0.11,-0.11,-0.11,-0.11,-0.11(T,T,T,T,T,T)",0.0000(T),0.262,1.127979,5.14,3.98,0.533000,0.925000,1.514000,0.011000,0.073000,0.008000,7.8888
synonymous_variant,MPZL3,SILENT,NM_198275.2:p.His137His/c.411T>C,caT/caC,LOW,COSM147333(2),0.804912,0.6944,rs1793140,,,,,,chr11,118107805,118107805,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His125His/c.375T>C|223|MPZL3|protein_coding|CODING|NM_001286152.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His137His/c.411T>C|235|MPZL3|protein_coding|CODING|NM_198275.2|3|1),intron_variant(MODIFIER|||n.148-3567T>C||MPZL3||CODING|NR_104404.1|1|1),intron_variant(MODIFIER|||n.315-1501T>C||MPZL3||CODING|NR_104405.1|2|1)","NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.8425,0.7781,0.7256,0.79,0.90,0.74,,,,,,,,,,,,,,,,
synonymous_variant,MPZL3,SILENT,NM_198275.2:p.Lys63Lys/c.189A>G,aaA/aaG,LOW,COSM147334(1),0.792133,0.6806,rs2853006,,,,,,chr11,118110977,118110977,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys51Lys/c.153A>G|223|MPZL3|protein_coding|CODING|NM_001286152.1|2|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys63Lys/c.189A>G|235|MPZL3|protein_coding|CODING|NM_198275.2|2|1),intron_variant(MODIFIER|||n.148-6739A>G||MPZL3||CODING|NR_104404.1|1|1),non_coding_exon_variant(MODIFIER|||n.263A>G||MPZL3||CODING|NR_104405.1|2|1)","NHEK:H3K36me3,HUVEC:H3K4me1",,,,0.8303,0.7666,0.7117,0.79,0.89,0.73,,,,,,,,,,,,,,,,
synonymous_variant,TMEM25,SILENT,NM_032780.3:p.Pro299Pro/c.897G>A,ccG/ccA,LOW,COSM147336(2),0.240016,0.2302,rs6589664,,,,-0.9201(T),,chr11,118404804,118404804,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro255Pro/c.765G>A|322|TMEM25|protein_coding|CODING|NM_001144034.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro255Pro/c.765G>A|322|TMEM25|protein_coding|CODING|NM_001144035.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro151Pro/c.453G>A|218|TMEM25|protein_coding|CODING|NM_001144036.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro299Pro/c.897G>A|351|TMEM25|protein_coding|CODING|NM_001144037.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro255Pro/c.765G>A|306|TMEM25|protein_coding|CODING|NM_001144038.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro299Pro/c.897G>A|366|TMEM25|protein_coding|CODING|NM_032780.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:DNase1",,,,0.1227,0.4337,0.2932,0.26,0.20,0.30,,,0.000(P),,0.0000(T),.,1.220799,5.92,-4.17,-1.101000,-0.317000,-2.732000,0.963000,0.987000,0.000000,1.2064
synonymous_variant,PHLDB1,SILENT,NM_001144758.2:p.Glu865Glu/c.2595A>G,gaA/gaG,LOW,COSM4145369(1),0.572684,0.6558,rs483598,,,,,,chr11,118509668,118509668,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu865Glu/c.2595A>G|1377|PHLDB1|protein_coding|CODING|NM_001144758.2|11|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu865Glu/c.2595A>G|1319|PHLDB1|protein_coding|CODING|NM_001144759.2|11|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu865Glu/c.2595A>G|1377|PHLDB1|protein_coding|CODING|NM_015157.3|12|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5562,0.7089,0.5368,0.53,0.47,0.55,,,,,,,,,,,,,,,,
stop_lost,TREH,MISSENSE,NM_007180.2:p.Ter578Serext*?/c.1733A>C,tAa/tCa,HIGH,,1,1,rs6589669,,,,,,chr11,118529017,118529017,T,G,hom,"stop_lost(HIGH|MISSENSE|tAa/tCa|p.Ter547Serext*?/c.1640A>C|551|TREH|protein_coding|CODING|NM_001301065.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),stop_lost(HIGH|MISSENSE|tAa/tCa|p.Ter578Serext*?/c.1733A>C|582|TREH|protein_coding|CODING|NM_007180.2|15|1|WARNING_TRANSCRIPT_INCOMPLETE),downstream_gene_variant(MODIFIER||269||1377|PHLDB1|protein_coding|CODING|NM_001144758.2||1),downstream_gene_variant(MODIFIER||269||1319|PHLDB1|protein_coding|CODING|NM_001144759.2||1),downstream_gene_variant(MODIFIER||269||1377|PHLDB1|protein_coding|CODING|NM_015157.3||1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,,1.000(P),,,.,2.565452,3.21,2.25,-0.121000,0.082000,0.619000,0.407000,0.008000,0.001000,6.6207
missense_variant,TREH,MISSENSE,NM_007180.2:p.Pro561Ala/c.1681C>G,Cct/Gct,MODERATE,,1,1,rs6589670,0.56(T),"0.0,0.0(B,B)",,-1.0234(T),,chr11,118529069,118529069,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro530Ala/c.1588C>G|551|TREH|protein_coding|CODING|NM_001301065.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro561Ala/c.1681C>G|582|TREH|protein_coding|CODING|NM_007180.2|15|1|WARNING_TRANSCRIPT_INCOMPLETE),downstream_gene_variant(MODIFIER||321||1377|PHLDB1|protein_coding|CODING|NM_001144758.2||1),downstream_gene_variant(MODIFIER||321||1319|PHLDB1|protein_coding|CODING|NM_001144759.2||1),downstream_gene_variant(MODIFIER||321||1377|PHLDB1|protein_coding|CODING|NM_015157.3||1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.956909(N),1.000(P),"2.58,2.57,2.61,2.56,2.59(T,T,T,T,T)",0.0000(T),0.14,0.339356,5.41,1.33,-0.120000,0.113000,-0.719000,0.844000,0.000000,0.000000,1.5364
missense_variant,TREH,MISSENSE,NM_007180.2:p.Pro558Ala/c.1672C>G,Ccc/Gcc,MODERATE,,1,1,rs6589671,0.27(T),"0.0,0.002(B,B)",,-1.0198(T),,chr11,118529078,118529078,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro527Ala/c.1579C>G|551|TREH|protein_coding|CODING|NM_001301065.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro558Ala/c.1672C>G|582|TREH|protein_coding|CODING|NM_007180.2|15|1|WARNING_TRANSCRIPT_INCOMPLETE),downstream_gene_variant(MODIFIER||330||1377|PHLDB1|protein_coding|CODING|NM_001144758.2||1),downstream_gene_variant(MODIFIER||330||1319|PHLDB1|protein_coding|CODING|NM_001144759.2||1),downstream_gene_variant(MODIFIER||330||1377|PHLDB1|protein_coding|CODING|NM_015157.3||1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.900614(N),1.000(P),"2.53,2.51,2.54,2.51,2.51(T,T,T,T,T)",0.0000(T),0.068,-0.704717,5.26,-9.7,-2.533000,-1.997000,-0.744000,0.088000,0.000000,0.000000,2.2962
missense_variant,TREH,MISSENSE,NM_007180.2:p.Thr389Ala/c.1165A>G,Aca/Gca,MODERATE,,0.216853,0.2272,rs2276065,0.88(T),"0.001,0.0,0.0(B,B,B)",,-1.0283(T),,chr11,118530611,118530611,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr358Ala/c.1072A>G|551|TREH|protein_coding|CODING|NM_001301065.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr389Ala/c.1165A>G|582|TREH|protein_coding|CODING|NM_007180.2|11|1|WARNING_TRANSCRIPT_INCOMPLETE),downstream_gene_variant(MODIFIER||1863||1377|PHLDB1|protein_coding|CODING|NM_001144758.2||1),downstream_gene_variant(MODIFIER||1863||1319|PHLDB1|protein_coding|CODING|NM_001144759.2||1),downstream_gene_variant(MODIFIER||1863||1377|PHLDB1|protein_coding|CODING|NM_015157.3||1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,GM06990:H3K27me3,CD4:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K27me3,HepG2:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,GM06990:CTCF",,,,0.3753,0.2118,0.2167,0.16,0.10,0.19,,0.000115(N),1.000(P),"1.03,1.03,1.03,1.03,1.03(T,T,T,T,T)",0.0000(T),0.035,-0.182903,5.66,3.81,-1.615000,0.364000,0.784000,0.003000,0.001000,0.061000,11.7968
synonymous_variant,DDX6,SILENT,NM_001257191.2:p.Leu108Leu/c.322C>T,Ctg/Ttg,LOW,,0.000998403,0,rs61756275,,,,,,chr11,118650388,118650388,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu108Leu/c.322C>T|483|DDX6|protein_coding|CODING|NM_001257191.2|4|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu108Leu/c.322C>T|483|DDX6|protein_coding|CODING|NM_004397.5|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.002,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,CXCR5,SILENT,NM_001716.4:p.Thr338Thr/c.1014G>C,acG/acC,LOW,COSM3752166(2),0.321685,0.2212,rs598207,,,,,,chr11,118765267,118765267,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr293Thr/c.879G>C|327|CXCR5|protein_coding|CODING|NM_032966.2|1|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr338Thr/c.1014G>C|372|CXCR5|protein_coding|CODING|NM_001716.4|2|1),downstream_gene_variant(MODIFIER||1584||1499|BCL9L|protein_coding|CODING|NM_182557.2||1)","H1ESC:H3K36me3,CD4:H3K18ac,HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,CD4:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1554,0.4366,0.2714,0.33,0.45,0.27,,,,,,,,,,,,,,,,
synonymous_variant,BCL9L,SILENT,NM_182557.2:p.Pro1394Pro/c.4182T>C,ccT/ccC,LOW,COSM4145372(1),0.444089,0.2927,rs7104819,,,,,,chr11,118769442,118769442,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1394Pro/c.4182T>C|1499|BCL9L|protein_coding|CODING|NM_182557.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.2249,0.5476,0.4135,0.49,0.63,0.41,,,,,,,,,,,,,,,,
synonymous_variant,HYOU1,SILENT,NM_001130991.2:p.Ala745Ala/c.2235A>G,gcA/gcG,LOW,,0.803914,0.9454,rs568922,,,,,,chr11,118919206,118919206,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala745Ala/c.2235A>G|999|HYOU1|protein_coding|CODING|NM_001130991.2|19|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala745Ala/c.2235A>G|999|HYOU1|protein_coding|CODING|NM_006389.4|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9325,0.6196,0.841,0.79,0.68,0.85,,,,,,,,,,,,,,,,
missense_variant,VPS11,MISSENSE,NM_001290185.1:p.Leu35Phe/c.103C>T,Ctc/Ttc,MODERATE,,0.871006,0.9454,rs670526,,,,,,chr11,118938882,118938882,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu35Phe/c.103C>T|930|VPS11|protein_coding|CODING|NM_001290185.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.187+161C>T|940|VPS11|protein_coding|CODING|NM_021729.5|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,K562:Yy1,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:SP1,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.911,0.67,0.8459,,,,,,,,,,,,,,,,,,,
missense_variant,VPS11,MISSENSE,NM_021729.5:p.Ala162Gly/c.485C>G,gCa/gGa,MODERATE,,0.383187,0.2143,rs1784302,,,,,,chr11,118940957,118940957,C,G,het,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala152Gly/c.455C>G|930|VPS11|protein_coding|CODING|NM_001290185.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala162Gly/c.485C>G|940|VPS11|protein_coding|CODING|NM_021729.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3926,0.3487,0.3598,0.44,0.49,0.41,,,,,,,,,,,,,,,,
missense_variant,VPS11,MISSENSE,NM_021729.5:p.Ala660Val/c.1979C>T,gCg/gTg,MODERATE,COSM4145384(1),0.338858,0.2153,rs1177562,,,,,,chr11,118949331,118949331,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala650Val/c.1949C>T|930|VPS11|protein_coding|CODING|NM_001290185.1|12|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala660Val/c.1979C>T|940|VPS11|protein_coding|CODING|NM_021729.5|12|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3978,0.3242,0.3618,0.40,0.36,0.41,,,,,,,,,,,,,,,,
missense_variant,VPS11,MISSENSE,NM_021729.5:p.Ser889Gly/c.2665A>G,Agt/Ggt,MODERATE,,0.354633,0.2044,rs15818,,,,,,chr11,118952173,118952173,A,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser879Gly/c.2635A>G|930|VPS11|protein_coding|CODING|NM_001290185.1|16|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser889Gly/c.2665A>G|940|VPS11|protein_coding|CODING|NM_021729.5|16|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3415,0.3343,0.3618,0.43,0.47,0.41,,,,,,,,,,,,,,,,
missense_variant,DPAGT1,MISSENSE,NM_001382.3:p.Ile393Val/c.1177A>G,Atc/Gtc,MODERATE,,0.433307,0.631,rs643788,0.61(T),"0.002,0.0(B,B)",0.41(N),-0.9765(T),,chr11,118967758,118967758,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile393Val/c.1177A>G|408|DPAGT1|protein_coding|CODING|NM_001382.3|9|1),upstream_gene_variant(MODIFIER||1581||143|H2AFX|protein_coding|CODING|NM_002105.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079665.2,,0.5031,0.2983,0.4563,0.39,0.30,0.43,,0.880464(N),1.000(P),"-2.78,-2.78,-2.63(D,D,D)",0.0000(T),0.038,-1.647350,5.38,-4.23,-3.207000,-0.993000,-0.320000,0.231000,0.037000,0.000000,2.1096
synonymous_variant,HINFP,SILENT,NM_015517.4:p.Ile478Ile/c.1434C>T,atC/atT,LOW,,0.98722,1,rs512703,,,,,,chr11,119005088,119005088,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile478Ile/c.1434C>T|517|HINFP|protein_coding|CODING|NM_015517.4|11|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile478Ile/c.1434C>T|517|HINFP|protein_coding|CODING|NM_198971.2|10|1),3_prime_UTR_variant(MODIFIER||236|c.*236C>T|419|HINFP|protein_coding|CODING|NM_001243259.1|10|1)","NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:CTCF",,,,0.9867,0.9856,0.9622,0.97,0.99,0.96,,,,,,,,,,,,,,,,
missense_variant,HINFP,MISSENSE,NM_015517.4:p.Ala493Val/c.1478C>T,gCc/gTc,MODERATE,,0.401757,0.7183,rs100803,0.2(T),0.001(B),0.205(N),-1.0177(T),,chr11,119005132,119005132,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala493Val/c.1478C>T|517|HINFP|protein_coding|CODING|NM_015517.4|11|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala493Val/c.1478C>T|517|HINFP|protein_coding|CODING|NM_198971.2|10|1),3_prime_UTR_variant(MODIFIER||280|c.*280C>T|419|HINFP|protein_coding|CODING|NM_001243259.1|10|1)","NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,NH-A:CTCF,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF,GM06990:CTCF",,,,0.4315,0.2839,0.4433,0.34,0.19,0.42,,0.547761(N),1.000(P),2.91(T),0.0000(T),0.101,0.298738,4.9,-0.697,-0.136000,-0.001000,-0.098000,0.091000,0.000000,0.002000,2.4679
missense_variant,NLRX1,MISSENSE,NM_001282143.1:p.Pro63Ser/c.187C>T,Ccc/Tcc,MODERATE,,0.682308,0.8829,rs643423,0.92(T),"0.002,0.0(B,B)",-0.145(N),-0.9917(T),,chr11,119043656,119043656,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro63Ser/c.187C>T|975|NLRX1|protein_coding|CODING|NM_001282143.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro63Ser/c.187C>T|975|NLRX1|protein_coding|CODING|NM_001282144.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro63Ser/c.187C>T|975|NLRX1|protein_coding|CODING|NM_001282358.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro63Ser/c.187C>T|975|NLRX1|protein_coding|CODING|NM_024618.3|4|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7955,0.402,0.5497,0.57,0.65,0.52,,0.776696(N),1.000(P),"1.67,1.67,1.67,-0.3,-0.3,-0.43,-0.3,-0.43(T,T,T,T,T,T,T,T)",0.0000(T),0.269,-1.287510,5.4,-4.75,-1.177000,-1.172000,-2.208000,0.000000,0.000000,0.000000,11.9448
missense_variant,NLRX1,MISSENSE,NM_001282143.1:p.Ala793Glu/c.2378C>A,gCg/gAg,MODERATE,COSM4145389(1),0.688299,0.8839,rs4245191,1(T),"0.02,0.006(B,B)",-0.41(N),-0.9555(T),,chr11,119052826,119052826,C,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala793Glu/c.2378C>A|975|NLRX1|protein_coding|CODING|NM_001282143.1|9|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala793Glu/c.2378C>A|975|NLRX1|protein_coding|CODING|NM_001282144.1|9|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala793Glu/c.2378C>A|975|NLRX1|protein_coding|CODING|NM_001282358.1|9|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala793Glu/c.2378C>A|975|NLRX1|protein_coding|CODING|NM_024618.3|9|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7965,0.4179,0.5477,0.57,0.68,0.52,,0.001049(N),1.000(P),"0.7,0.7,0.7,0.7,0.7(T,T,T,T,T)",0.0000(T),0.154,-2.091840,4.78,2.91,0.609000,0.628000,2.559000,0.003000,0.018000,0.979000,6.5557
missense_variant,PDZD3,MISSENSE,NM_001168468.1:p.Ser357Pro/c.1069T>C,Tcc/Ccc,MODERATE,,0.000798722,0,rs148219105,0.14(T),"0.999,0.999,0.999,0.998(D,D,D,D)",1.04(L),-0.3332(T),,chr11,119059358,119059358,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser357Pro/c.1069T>C|505|PDZD3|protein_coding|CODING|NM_001168468.1|9|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser343Pro/c.1027T>C|491|PDZD3|protein_coding|CODING|NM_024791.3|9|1),downstream_gene_variant(MODIFIER||1605||210|CCDC153|protein_coding|CODING|NM_001145018.1||1),non_coding_exon_variant(MODIFIER|||n.1183T>C||PDZD3||CODING|NR_033122.1|9|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0,0.004,0.00,0.00,0.00,,0.000014(D),1.000(D),"1.41,1.4,1.4,-0.93,1.4(T,T,T,T,T)",0.3382(T),0.671,3.853607,5.73,5.73,0.533000,2.198000,2.572000,0.772000,1.000000,1.000000,9.8284
missense_variant,PDZD3,MISSENSE,NM_001168468.1:p.Arg372Gln/c.1115G>A,cGg/cAg,MODERATE,COSM4145390(1),0.664936,0.879,rs1815811,0.73(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.895(N),-1.0064(T),,chr11,119059404,119059404,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg372Gln/c.1115G>A|505|PDZD3|protein_coding|CODING|NM_001168468.1|9|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg358Gln/c.1073G>A|491|PDZD3|protein_coding|CODING|NM_024791.3|9|1),downstream_gene_variant(MODIFIER||1559||210|CCDC153|protein_coding|CODING|NM_001145018.1||1),non_coding_exon_variant(MODIFIER|||n.1229G>A||PDZD3||CODING|NR_033122.1|9|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7965,0.4251,0.5716,0.56,0.59,0.54,,0.536080(N),1.000(P),"1.61,1.58,1.62,-0.71,1.58(T,T,T,T,T)",0.0000(T),0.039,-0.170042,5.21,-1.83,-0.254000,-0.564000,0.042000,0.008000,0.000000,0.000000,6.3572
synonymous_variant,MCAM,SILENT,NM_006500.2:p.Leu600Leu/c.1800A>G,ctA/ctG,LOW,COSM1162429(3),0.748203,0.6577,rs2249466,,,,,,chr11,119181170,119181170,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu600Leu/c.1800A>G|646|MCAM|protein_coding|CODING|NM_006500.2|15|1),"H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8395,0.7695,0.7107,0.73,0.75,0.71,,,,,,,,,,,,,,,,
missense_variant,MCAM,MISSENSE,NM_006500.2:p.Ser285Asn/c.854G>A,aGc/aAc,MODERATE,,0.000998403,0,rs138873873,0.33(T),0.004(B),1.33(L),-0.9746(T),,chr11,119183244,119183244,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser285Asn/c.854G>A|646|MCAM|protein_coding|CODING|NM_006500.2|7|1),downstream_gene_variant(MODIFIER||416|||MIR6756||NON_CODING|NR_106814.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.005,0.00,0.00,0.00,,,1.000(N),"2.62,2.62(T,T)",0.0175(T),0.032,0.733207,4.7,0.144,0.561000,-0.058000,-0.022000,0.757000,0.956000,0.737000,4.5727
synonymous_variant,RNF26,SILENT,NM_032015.4:p.Thr181Thr/c.543G>A,acG/acA,LOW,COSM3752177(1),0.725639,0.6607,rs2511841,,,,,,chr11,119206375,119206375,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr181Thr/c.543G>A|433|RNF26|protein_coding|CODING|NM_032015.4|1|1),"H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,CD4:H4K91ac,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K4me2,H1ESC:H3K4me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2",,,,0.8323,0.7349,0.659,0.69,0.71,0.68,,,,,,,,,,,,,,,,
synonymous_variant,MFRP,SILENT,NM_031433.3:p.His180His/c.540T>C,caT/caC,LOW,COSM4145393(1),0.901957,0.875,rs2510143,,,,,,chr11,119216231,119216231,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His180His/c.540T>C|579|MFRP|protein_coding|CODING|NM_031433.3|5|1),5_prime_UTR_variant(MODIFIER||5124|c.-2097T>C|243|C1QTNF5|protein_coding|CODING|NM_015645.4|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9785,0.8732,0.9493,0.93,0.87,0.96,,,,,,,,,,,,,,,,
missense_variant,MFRP,MISSENSE,NM_031433.3:p.Val136Met/c.406G>A,Gtg/Atg,MODERATE,,0.182109,0.2004,rs3814762,0.22(T),"0.009,0.001(B,B)",-0.625(N),-0.9944(T),,chr11,119216504,119216504,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val136Met/c.406G>A|579|MFRP|protein_coding|CODING|NM_031433.3|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||243|C1QTNF5|protein_coding|CODING|NM_015645.4|4|1),5_prime_UTR_variant(MODIFIER||5397|c.-2231G>A|243|C1QTNF5|protein_coding|CODING|NM_015645.4|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2086,0.1657,0.337,0.25,0.10,0.32,,0.131620(N),1.000(P),"-0.34,-0.34,1.83(T,T,T)",0.0000(T),0.062,0.623059,3.62,-3.06,-1.191000,-0.646000,-1.868000,0.185000,0.140000,0.000000,6.3566
missense_variant,USP2,MISSENSE,NM_004205.4:p.Asn383Ser/c.1148A>G,aAc/aGc,MODERATE,,0.00579073,0.001,rs45533837,0.87(T),"0.0,0.0,0.0(B,B,B)",-0.11(N),-0.9026(T),,chr11,119229758,119229758,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn140Ser/c.419A>G|362|USP2|protein_coding|CODING|NM_001243759.1|5|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn383Ser/c.1148A>G|605|USP2|protein_coding|CODING|NM_004205.4|6|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn174Ser/c.521A>G|396|USP2|protein_coding|CODING|NM_171997.2|5|1)","H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0041,0.0101,0.0149,0.02,0.01,0.02,,0.949532(N),1.000(N),"4.21,4.21,4.21(T,T,T)",0.0021(T),0.003,-0.127717,5.92,-8.31,0.533000,-2.046000,-1.590000,0.970000,0.029000,0.000000,11.5372
synonymous_variant,USP2,SILENT,NM_004205.4:p.Tyr346Tyr/c.1038C>T,taC/taT,LOW,,0.707668,0.8611,rs2241646,,,,,,chr11,119229964,119229964,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr103Tyr/c.309C>T|362|USP2|protein_coding|CODING|NM_001243759.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr346Tyr/c.1038C>T|605|USP2|protein_coding|CODING|NM_004205.4|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr137Tyr/c.411C>T|396|USP2|protein_coding|CODING|NM_171997.2|4|1)","H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7812,0.6383,0.7247,0.66,0.57,0.71,,,,,,,,,,,,,,,,
missense_variant,USP2,MISSENSE,NM_004205.4:p.Arg174Gln/c.521G>A,cGg/cAg,MODERATE,,0.019369,0.001,rs33929148,0.21(T),0.637(P),0.345(N),-1.0693(T),,chr11,119243670,119243670,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg174Gln/c.521G>A|605|USP2|protein_coding|CODING|NM_004205.4|2|1),intron_variant(MODIFIER|||c.45+8513G>A|362|USP2|protein_coding|CODING|NM_001243759.1|1|1)","K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.0143,0.0259,0.0596,0.05,0.01,0.07,,0.000022(N),1.000(D),2.23(T),0.0048(T),0.179,2.925239,5.52,5.52,0.655000,2.578000,0.733000,0.840000,1.000000,0.431000,12.9227
synonymous_variant,USP2,SILENT,NM_004205.4:p.Pro32Pro/c.96G>A,ccG/ccA,LOW,COSM3752178(2),0.650958,0.8353,rs587985,,,,,,chr11,119244095,119244095,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro32Pro/c.96G>A|605|USP2|protein_coding|CODING|NM_004205.4|2|1),intron_variant(MODIFIER|||c.45+8088G>A|362|USP2|protein_coding|CODING|NM_001243759.1|1|1)","K562:H3K36me3,H1ESC:H3K27me3,HepG2:HNF4A,HepG2:H3K36me3,HepG2:DNase1",,,,0.6973,0.6095,0.6252,0.58,0.54,0.61,,,,,,,,,,,,,,,,
missense_variant,USP2,MISSENSE,NM_001243759.1:p.Tyr10Ser/c.29A>C,tAc/tCc,MODERATE,,0.93151,0.9603,rs386506847,0(D),,,-0.9906(T),,chr11,119252199,119252199,T,G,hom,"missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr10Ser/c.29A>C|362|USP2|protein_coding|CODING|NM_001243759.1|1|1),5_prime_UTR_variant(MODIFIER||8009|c.-58A>C|605|USP2|protein_coding|CODING|NM_004205.4|1|1),upstream_gene_variant(MODIFIER||289|||USP2-AS1||NON_CODING|NR_034160.1||1)","K562:ZBTB7A,NHEK:CTCF,CD4:H3K9me1,CD4:H2AZ,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,K562:H3K27ac,HepG2:Sin3Ak20,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,K562:CTCF,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,NH-A:CTCF,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,CD4:H2BK12ac,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.8998,0.9294,0.8728,,,,,,0.000(P),,0.0000(T),.,3.626266,5.51,5.51,-0.121000,1.335000,2.291000,0.867000,1.000000,1.000000,11.9129
missense_variant,PVRL1,MISSENSE,NM_203285.1:p.Val361Gly/c.1082T>G,gTt/gGt,MODERATE,,0.872804,0.9306,rs7940667,0.13(T),0.001(B),-1.935(N),-0.9734(T),,chr11,119510644,119510644,A,C,hom,missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val361Gly/c.1082T>G|458|PVRL1|protein_coding|CODING|NM_203285.1|6|1),"GM06990:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9877,0.9366,0.9314,0.86,0.73,0.93,,,1.000(P),-0.93(T),0.0000(T),0.03,-0.391644,3.82,1.69,-1.482000,0.388000,0.068000,0.001000,0.000000,0.000000,6.7242
synonymous_variant,TRIM29,SILENT,NM_012101.3:p.Leu273Leu/c.817T>C,Ttg/Ctg,LOW,COSM4145401(1),0.925719,0.9583,rs569044,,,,,,chr11,119999191,119999191,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu273Leu/c.817T>C|588|TRIM29|protein_coding|CODING|NM_012101.3|2|1),"NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K4me1,HMEC:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27ac,NH-A:H3K27me3,HeLa-S3:H3K27ac,NHEK:H3K36me3,HMEC:H3K4me1,IMR90:H3K27me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HMEC:DNase1,HepG2:H3K27me3",,,,0.909,0.8761,0.8569,0.92,0.98,0.89,,,,,,,,,,,,,,,,
missense_variant,OAF,MISSENSE,NM_178507.2:p.His210Arg/c.629A>G,cAc/cGc,MODERATE,COSM3931241(2),0.557508,0.1478,rs2508489,0.4(T),0.0(B),-1.78(N),-1.0486(T),,chr11,120099658,120099658,A,G,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His210Arg/c.629A>G|273|OAF|protein_coding|CODING|NM_178507.2|4|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1",,,,0.5532,0.7622,0.8907,0.78,0.57,0.88,,0.427865(N),1.000(P),"1.66,1.66(T,T)",0.0000(T),0.028,-0.873110,4.72,0.675,-0.147000,-0.152000,1.205000,0.000000,0.000000,0.019000,4.6872
missense_variant,OAF,MISSENSE,NM_178507.2:p.Arg217His/c.650G>A,cGc/cAc,MODERATE,COSM4145403(1),0.489217,0.1359,rs2508490,0.35(T),0.001(B),-0.695(N),-1.0365(T),,chr11,120099679,120099679,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg217His/c.650G>A|273|OAF|protein_coding|CODING|NM_178507.2|4|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,H1ESC:CTCF",,,,0.4683,0.5951,0.7922,0.71,0.54,0.79,,0.100165(N),0.999(P),"1.51,1.51(T,T)",0.0000(T),0.058,0.445110,4.72,-2.51,-0.145000,-0.376000,0.775000,0.211000,0.786000,1.000000,7.3895
missense_variant,POU2F3,MISSENSE,NM_001244682.1:p.Gly10Glu/c.29G>A,gGa/gAa,MODERATE,,0.331869,0.0069,rs882856,1(T),,,-0.9605(T),,chr11,120107411,120107411,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly10Glu/c.29G>A|438|POU2F3|protein_coding|CODING|NM_001244682.1|1|1),"H1ESC:PolII,K562:TAF7,HeLa-S3:DNase1,K562:PolII,K562:ETS1,HUVEC:H3K27me3,NHEK:PolII,HUVEC:PolII,H1ESC:SP1,H1ESC:DNase1,K562:GTF2B,HeLa-S3:PolII,K562:BCL3,IMR90:H3K27me3,HMEC:DNase1,H1ESC:TAF7,HepG2:H3K27me3,K562:HEY1,NHEK:DNase1,K562:BCLAF1,K562:DNase1",,,,0.2791,0.4352,0.7147,,,,,,1.000(P),-1.57(D),0.0000(T),0.049,-1.457743,2.96,-0.515,0.563000,-0.077000,-1.065000,0.004000,0.000000,0.000000,3.9825
synonymous_variant,GRIK4,SILENT,NM_001282470.1:p.Pro545Pro/c.1635G>A,ccG/ccA,LOW,,0.257788,0.3264,rs2298725,,,,,,chr11,120823608,120823608,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro545Pro/c.1635G>A|956|GRIK4|protein_coding|CODING|NM_001282470.1|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro545Pro/c.1635G>A|765|GRIK4|protein_coding|CODING|NM_001282473.1|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro545Pro/c.1635G>A|956|GRIK4|protein_coding|CODING|NM_014619.3|15|1)","NHEK:CTCF,CD4:H2AZ,GM06990:H3K27me3,CD4:DNase1,K562:CTCF,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,HMEC:CTCF,H1ESC:H3K4me1,K562:Rad21,CD4:CTCF,CD4:H4K5ac,HepG2:CTCF,GM12878:Rad21,HSMM:H3K27me3,CD4:H3K4me2,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.2751,0.3674,0.334,0.25,0.12,0.31,,,,,,,,,,,,,,,,
synonymous_variant,GRIK4,SILENT,NM_001282470.1:p.Gln607Gln/c.1821A>G,caA/caG,LOW,,0.714657,0.9911,rs644057,,,,,,chr11,120827609,120827609,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln607Gln/c.1821A>G|956|GRIK4|protein_coding|CODING|NM_001282470.1|15|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln607Gln/c.1821A>G|765|GRIK4|protein_coding|CODING|NM_001282473.1|16|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln607Gln/c.1821A>G|956|GRIK4|protein_coding|CODING|NM_014619.3|16|1)","CD4:H2AZ,CD4:H4K8ac,K562:H3K27me3,CD4:H4K5ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8313,0.7709,0.6779,0.61,0.44,0.69,,,,,,,,,,,,,,,,
missense_variant,TECTA,MISSENSE,NM_005422.2:p.Arg371Gly/c.1111A>G,Aga/Gga,MODERATE,COSM3752181(2),0.443291,0.246,rs612969,1(T),0.0(B),-1.815(N),-0.9089(T),,chr11,120989335,120989335,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg371Gly/c.1111A>G|2155|TECTA|protein_coding|CODING|NM_005422.2|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000038479.1,,0.2975,0.3818,0.4314,0.50,0.66,0.41,,0.000018(N),1.000(P),"0.36,0.36(T,T)",0.0000(T),0.037,-0.023615,5.72,3.86,-0.213000,0.364000,4.856000,0.877000,0.003000,1.000000,11.7181
synonymous_variant,TECTA,SILENT,NM_005422.2:p.Ala495Ala/c.1485A>G,gcA/gcG,LOW,COSM4145408(1),0.772165,0.6815,rs536069,,,,,,chr11,120996292,120996292,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala495Ala/c.1485A>G|2155|TECTA|protein_coding|CODING|NM_005422.2|7|1),"GM06990:H3K27me3,HMEC:H3K27me3",,RCV000038480.1,,0.7372,0.6441,0.7266,0.77,0.92,0.69,,,,,,,,,,,,,,,,
synonymous_variant,TECTA,SILENT,NM_005422.2:p.Ile752Ile/c.2256C>T,atC/atT,LOW,COSM3998267(1),0.310304,0.4355,rs10502247,,,,,,chr11,120998942,120998942,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile752Ile/c.2256C>T|2155|TECTA|protein_coding|CODING|NM_005422.2|8|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,RCV000038484.1,,0.4438,0.2622,0.3022,0.26,0.20,0.29,,,,,,,,,,,,,,,,
missense_variant,TECTA,MISSENSE,NM_005422.2:p.Val932Ala/c.2795T>C,gTc/gCc,MODERATE,COSM3998268(1),0.215655,0.2381,rs520805,0.53(T),0.003(B),1.135(L),-1.0752(T),,chr11,121000774,121000774,T,C,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val932Ala/c.2795T>C|2155|TECTA|protein_coding|CODING|NM_005422.2|9|1),"GM12878:H3K36me3,K562:H3K27me3",,RCV000038487.1,,0.1922,0.2205,0.2286,0.20,0.17,0.21,,0.000361(N),0.223(P),"-0.99,-0.99(T,T)",0.0000(T),0.148,0.013330,5.78,4.65,0.528000,1.026000,2.885000,0.997000,1.000000,1.000000,11.707
synonymous_variant,TECTA,SILENT,NM_005422.2:p.Tyr935Tyr/c.2805T>C,taT/taC,LOW,COSM4145410(1),0.751398,0.6835,rs586473,,,,,,chr11,121000784,121000784,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr935Tyr/c.2805T>C|2155|TECTA|protein_coding|CODING|NM_005422.2|9|1),"GM12878:H3K36me3,K562:H3K27me3",,RCV000038488.1,,0.7382,0.6441,0.7266,0.75,0.86,0.69,,,,,,,,,,,,,,,,
missense_variant,TECTA,MISSENSE,NM_005422.2:p.Ser1724Asn/c.5171G>A,aGc/aAc,MODERATE,,0.996805,1,rs526433,0.75(T),0.0(B),-0.55(N),-0.9475(T),,chr11,121032978,121032978,G,A,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser1724Asn/c.5171G>A|2155|TECTA|protein_coding|CODING|NM_005422.2|15|1),IMR90:H3K27me3,,RCV000038501.1,,0.999,0.9986,0.9881,0.99,1.00,0.99,,0.000008(N),0.999(P),"-1.06,-1.06(T,T)",0.0000(T),0.048,0.491750,5.54,5.54,-0.269000,0.932000,5.901000,0.962000,1.000000,1.000000,11.5838
synonymous_variant,TECTA,SILENT,NM_005422.2:p.Ser1878Ser/c.5634C>T,agC/agT,LOW,COSM3752183(1),0.185304,0.3105,rs2155369,,,,,,chr11,121038810,121038810,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser1878Ser/c.5634C>T|2155|TECTA|protein_coding|CODING|NM_005422.2|18|1),HepG2:H3K27me3,,RCV000038503.1,,0.3548,0.1571,0.1402,0.10,0.03,0.13,,,,,,,,,,,,,,,,
synonymous_variant,SORL1,SILENT,NM_003105.5:p.His269His/c.807T>C,caT/caC,LOW,COSM147338(1),0.44369,0.3115,rs12364988,,,,,,chr11,121367626,121367626,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His269His/c.807T>C|2214|SORL1|protein_coding|CODING|NM_003105.5|6|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4172,0.5101,0.495,0.51,0.50,0.52,,,,,,,,,,,,,,,,
synonymous_variant,SORL1,SILENT,NM_003105.5:p.Ala551Ala/c.1653T>C,gcT/gcC,LOW,,0.985224,1,rs636588,,,,,,chr11,121403229,121403229,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala551Ala/c.1653T>C|2214|SORL1|protein_coding|CODING|NM_003105.5|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,SORL1,MISSENSE,NM_003105.5:p.Gln1074Glu/c.3220C>G,Caa/Gaa,MODERATE,,0.984824,1,rs1699107,1(T),0.0(B),-0.755(N),-0.9388(T),,chr11,121437819,121437819,C,G,hom,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1074Glu/c.3220C>G|2214|SORL1|protein_coding|CODING|NM_003105.5|22|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,1,0.9957,1,0.98,0.94,1.00,,0.145185(N),0.000(P),"-2.72,-2.49(D,D)",0.0000(T),0.08,-1.820941,4.38,4.38,-0.352000,0.969000,3.175000,0.158000,1.000000,1.000000,13.3392
synonymous_variant,SORL1,SILENT,NM_003105.5:p.Ser1187Ser/c.3561T>G,tcT/tcG,LOW,COSM147339(2),0.340855,0.5685,rs2070045,,,,,,chr11,121448090,121448090,T,G,het,synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser1187Ser/c.3561T>G|2214|SORL1|protein_coding|CODING|NM_003105.5|25|1),"H1ESC:H3K36me3,GM12878:H3K27ac,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4949,0.438,0.2406,0.19,0.10,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SORL1,SILENT,NM_003105.5:p.Asn1246Asn/c.3738C>T,aaC/aaT,LOW,COSM4145412(1),0.407348,0.1379,rs1699102,,,,,,chr11,121456962,121456962,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1246Asn/c.3738C>T|2214|SORL1|protein_coding|CODING|NM_003105.5|27|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.415,0.668,0.61,0.49,0.67,,,,,,,,,,,,,,,,
synonymous_variant,SORL1,SILENT,NM_003105.5:p.Ala1584Ala/c.4752T>A,gcT/gcA,LOW,COSM3998269(1),0.396166,0.5883,rs3824968,,,,,,chr11,121475922,121475922,T,A,het,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala1584Ala/c.4752T>A|2214|SORL1|protein_coding|CODING|NM_003105.5|34|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5838,0.4899,0.3032,0.25,0.15,0.31,,,,,,,,,,,,,,,,
missense_variant,SORL1,MISSENSE,NM_003105.5:p.Val1967Ile/c.5899G>A,Gtt/Att,MODERATE,,0.979433,1,rs1792120,1(T),"0.003,0.003(B,B)",0.425(N),-0.9029(T),,chr11,121491782,121491782,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1967Ile/c.5899G>A|2214|SORL1|protein_coding|CODING|NM_003105.5|44|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.98,0.95,1.00,,0.001829(N),1.000(P),"0.17,0.17,0.17,0.17,0.17(T,T,T,T,T)",0.0000(T),0.103,0.484550,5.49,0.391,-0.254000,-0.150000,1.658000,0.714000,0.018000,0.932000,11.2154
missense_variant,UBASH3B,MISSENSE,NM_032873.4:p.Ala68Thr/c.202G>A,Gca/Aca,MODERATE,COSM147340(2),0.195687,0.1726,rs12790613,0.44(T),0.665(P),1.855(L),-0.9286(T),,chr11,122646967,122646967,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala68Thr/c.202G>A|649|UBASH3B|protein_coding|CODING|NM_032873.4|2|1),"GM12878:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.2423,0.3069,0.3111,0.24,0.09,0.32,,0.000002(D),0.000(P),1.94(T),0.0000(T),0.209,3.480055,5.14,4.23,-0.140000,1.176000,6.092000,0.991000,1.000000,1.000000,13.6404
missense_variant,CRTAM,MISSENSE,NM_019604.2:p.Lys321Arg/c.962A>G,aAa/aGa,MODERATE,,0.550319,0.4325,rs2272094,0.54(T),"0.018,0.012(B,B)",0.65(N),-0.9634(T),,chr11,122738261,122738261,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys321Arg/c.962A>G|393|CRTAM|protein_coding|CODING|NM_019604.2|8|1),splice_region_variant(LOW|||c.962A>G|393|CRTAM|protein_coding|CODING|NM_019604.2|8|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.5961,0.7478,0.7316,0.62,0.42,0.72,,0.001213(N),0.011(P),"0.17,1.08(T,T)",0.0000(T),0.044,0.217959,5.62,-2.53,-0.256000,-0.410000,0.527000,0.133000,0.473000,0.997000,11.3936
missense_variant,GRAMD1B,MISSENSE,NM_001286563.1:p.Thr545Met/c.1634C>T,aCg/aTg,MODERATE,,,,rs369825461,0.25(T),"0.011,0.021,0.004,0.007(B,B,B,B)",-0.205(N),-1.0763(T),,chr11,123484181,123484181,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr545Met/c.1634C>T|745|GRAMD1B|protein_coding|CODING|NM_001286563.1|16|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr498Met/c.1493C>T|698|GRAMD1B|protein_coding|CODING|NM_001286564.1|15|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr538Met/c.1613C>T|738|GRAMD1B|protein_coding|CODING|NM_020716.2|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.009228(N),0.713(N),"1.75,1.75,1.75,1.75,1.75(T,T,T,T,T)",0.0251(T),0.116,1.745392,5.46,3.6,-0.258000,0.695000,2.227000,0.869000,0.965000,0.972000,11.9303
synonymous_variant,ZNF202,SILENT,NM_003455.2:p.Val244Val/c.732A>G,gtA/gtG,LOW,,0.229233,0.3552,rs2282644,,,,,,chr11,123598941,123598941,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val244Val/c.732A>G|648|ZNF202|protein_coding|CODING|NM_003455.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.2968,0.2694,0.21,0.06,0.28,,,,,,,,,,,,,,,,
missense_variant,ZNF202,MISSENSE,NM_003455.2:p.Val154Ala/c.461T>C,gTg/gCg,MODERATE,COSM4145428(1),0.665335,0.4812,rs1144507,0.82(T),0.0(B),-0.695(N),-1.0339(T),,chr11,123600475,123600475,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val154Ala/c.461T>C|648|ZNF202|protein_coding|CODING|NM_003455.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6718,0.6744,0.7038,0.72,0.76,0.69,,0.802821(N),1.000(P),"3.48,3.48,3.48(T,T,T)",0.0000(T),0.024,-0.705563,5.32,2.24,-0.226000,0.242000,0.449000,0.608000,0.097000,0.015000,3.4437
missense_variant,OR6M1,MISSENSE,NM_001005325.1:p.Thr276Lys/c.827C>A,aCa/aAa,MODERATE,COSM1352200(1),0.243411,0.2946,rs4936845,0(D),0.735(P),3.365(M),-1.0973(T),,chr11,123676231,123676231,G,T,het,missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr276Lys/c.827C>A|313|OR6M1|protein_coding|CODING|NM_001005325.1|1|1),,,,,0.2853,0.317,0.2853,0.24,0.12,0.30,,0.004164(U),1.000(P),8.39(T),0.0000(T),0.233,2.251267,3.48,3.48,0.655000,1.754000,1.794000,0.731000,0.295000,0.010000,6.5789
missense_variant,TMEM225,MISSENSE,NM_001013743.2:p.Cys196Arg/c.586T>C,Tgc/Cgc,MODERATE,,0.915335,0.8353,rs1939927,0.52(T),0.0(B),-0.805(N),-0.9862(T),,chr11,123753937,123753937,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys196Arg/c.586T>C|225|TMEM225|protein_coding|CODING|NM_001013743.2|4|1),,,,,0.9172,0.9193,0.8847,0.91,0.98,0.88,,0.012545(N),1.000(P),"1.73,1.71(T,T)",0.0000(T),0.335,-0.844094,3.89,-5.05,-1.557000,-1.531000,-2.351000,0.000000,0.000000,0.000000,0.249
missense_variant,TMEM225,MISSENSE,NM_001013743.2:p.Asn134Ser/c.401A>G,aAt/aGt,MODERATE,,1,1,rs10893099,1(T),0.0(B),-0.46(N),-0.9767(T),,chr11,123754844,123754844,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn134Ser/c.401A>G|225|TMEM225|protein_coding|CODING|NM_001013743.2|3|1),,,,,1,1,1,1.00,1.00,1.00,,0.320475(N),1.000(P),"-0.31,-0.31(T,T)",0.0000(T),0.146,-1.347596,4.84,-2.09,-0.755000,-0.538000,-1.107000,0.003000,0.000000,0.000000,6.356
missense_variant,OR8D4,MISSENSE,NM_001005197.1:p.Leu55Arg/c.164T>G,cTt/cGt,MODERATE,COSM147343(1),0.186502,0.0933,rs17127947,0(D),0.992(D),4.335(H),-1.0186(T),,chr11,123777302,123777302,T,G,het,missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu55Arg/c.164T>G|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.183,0.1455,0.1829,0.21,0.25,0.19,,0.000647(D),0.000(P),2.48(T),0.0000(T),0.394,2.926498,5.67,5.67,0.533000,2.143000,7.872000,0.121000,0.780000,1.000000,14.8892
missense_variant,OR8D4,MISSENSE,NM_001005197.1:p.Ile92Val/c.274A>G,Atc/Gtc,MODERATE,,0.186502,0.0933,rs17127950,0.01(D),0.033(B),2.42(M),-1.0138(T),,chr11,123777412,123777412,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile92Val/c.274A>G|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.183,0.1455,0.1829,0.21,0.25,0.19,,0.005516(N),0.921(P),3.42(T),0.0000(T),0.037,0.687645,5.81,3.53,-0.250000,0.480000,3.218000,0.270000,0.072000,0.963000,7.8258
missense_variant,OR8D4,MISSENSE,NM_001005197.1:p.Cys120Tyr/c.359G>A,tGc/tAc,MODERATE,,0.807708,0.7688,rs10750250,1(T),0.0(B),-3.11(N),-1.0131(T),,chr11,123777497,123777497,G,A,hom,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys120Tyr/c.359G>A|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.684,0.8718,0.8032,0.82,0.88,0.79,,0.014175(N),1.000(P),8.13(T),0.0000(T),0.045,-2.064960,5.81,4.66,-0.254000,0.441000,1.148000,0.066000,0.977000,0.715000,9.8415
synonymous_variant,OR8D4,SILENT,NM_001005197.1:p.Cys120Cys/c.360C>T,tgC/tgT,LOW,COSM3998283(1),0.266573,0.378,rs10893102,,,,,,chr11,123777498,123777498,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys120Cys/c.360C>T|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.3119,0.3271,0.3151,0.26,0.13,0.33,,,,,,,,,,,,,,,,
missense_variant,OR8D4,MISSENSE,NM_001005197.1:p.Arg133Lys/c.398G>A,aGg/aAg,MODERATE,,0.6873,0.7262,rs7926767,0.23(T),0.0(B),-0.18(N),-1.0216(T),,chr11,123777536,123777536,G,A,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg133Lys/c.398G>A|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.6339,0.7911,0.6809,0.68,0.65,0.69,,0.798345(N),1.000(P),2.17(T),0.0000(T),0.021,0.439618,5.81,-0.916,-0.972000,-0.353000,-0.716000,0.012000,0.000000,0.000000,1.7651
missense_variant,OR8D4,MISSENSE,NM_001005197.1:p.Phe200Leu/c.598T>C,Ttt/Ctt,MODERATE,COSM3998284(1),0.267772,0.378,rs10790610,0.56(T),0.05(B),0.58(N),-1.2481(T),,chr11,123777736,123777736,T,C,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe200Leu/c.598T>C|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.319,0.3271,0.3141,0.26,0.13,0.33,,0.000172(D),0.982(P),8.84(T),0.0000(T),0.087,1.442552,5.81,3.39,0.533000,1.035000,0.367000,0.993000,0.941000,0.029000,7.585
synonymous_variant,OR8D4,SILENT,NM_001005197.1:p.Cys241Cys/c.723T>C,tgT/tgC,LOW,COSM147344(1),0.163339,0.0933,rs61748875,,,,,,chr11,123777861,123777861,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys241Cys/c.723T>C|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.183,0.1398,0.1819,0.19,0.19,0.19,,,,,,,,,,,,,,,,
missense_variant,OR8D4,MISSENSE,NM_001005197.1:p.Leu283Pro/c.848T>C,cTc/cCc,MODERATE,,0.807907,0.7688,rs7942047,1(T),0.0(B),0(N),-0.9673(T),,chr11,123777986,123777986,T,C,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu283Pro/c.848T>C|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.684,0.8718,0.8042,0.82,0.87,0.79,,0.000238(N),0.031(P),1.52(T),0.0000(T),0.036,0.007641,5.67,5.67,-0.119000,1.406000,4.735000,0.880000,1.000000,0.995000,13.8182
missense_variant,OR8D4,MISSENSE,NM_001005197.1:p.Arg298Lys/c.893G>A,aGa/aAa,MODERATE,,0.6877,0.7262,rs7927385,1(T),0.0(B),-2.025(N),-0.9395(T),,chr11,123778031,123778031,G,A,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg298Lys/c.893G>A|314|OR8D4|protein_coding|CODING|NM_001005197.1|1|1),,,,,0.637,0.7911,0.6809,0.68,0.65,0.69,,0.004188(N),1.000(P),0.56(T),0.0000(T),0.035,-1.470582,5.27,5.27,-0.361000,0.837000,2.941000,0.191000,0.499000,0.402000,7.8069
synonymous_variant,OR6T1,SILENT,NM_001005187.1:p.Cys241Cys/c.723C>T,tgC/tgT,LOW,,0.26278,0.3839,rs7129884,,,,,,chr11,123813823,123813823,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys241Cys/c.723C>T|323|OR6T1|protein_coding|CODING|NM_001005187.1|1|1),,,,,0.319,0.3228,0.3181,0.26,0.11,0.33,,,,,,,,,,,,,,,,
synonymous_variant,OR6T1,SILENT,NM_001005187.1:p.Leu202Leu/c.606C>G,ctC/ctG,LOW,,0.263179,0.3839,rs7130003,,,,,,chr11,123813940,123813940,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu202Leu/c.606C>G|323|OR6T1|protein_coding|CODING|NM_001005187.1|1|1),,,,,0.319,0.3199,0.3181,0.26,0.11,0.33,,,,,,,,,,,,,,,,
synonymous_variant,OR6T1,SILENT,NM_001005187.1:p.Ser19Ser/c.57T>C,agT/agC,LOW,COSM3998285(1),0.262979,0.3839,rs4936859,,,,,,chr11,123814489,123814489,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser19Ser/c.57T>C|323|OR6T1|protein_coding|CODING|NM_001005187.1|1|1),,,,,0.319,0.3228,0.3181,0.26,0.11,0.33,,,,,,,,,,,,,,,,
missense_variant,OR10G4,MISSENSE,NM_001004462.1:p.Ala9Val/c.26C>T,gCa/gTa,MODERATE,COSM147348(5),0.309505,0.2093,rs79057843,0.02(D),0.001(B),-0.48(N),-0.9427(T),,chr11,123886307,123886307,C,T,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala9Val/c.26C>T|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,0.3354,0.3357,0.4334,0.38,0.30,0.43,,0.326156(N),1.000(P),5.34(T),0.0000(T),0.019,1.149889,3.49,-5.4,-4.499000,-2.100000,-2.071000,0.000000,0.000000,0.000000,2.0899
synonymous_variant,OR10G4,SILENT,NM_001004462.1:p.Ala9Ala/c.27A>G,gcA/gcG,LOW,,0.662939,0.7173,rs11219407,,,,,,chr11,123886308,123886308,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala9Ala/c.27A>G|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,0.6309,0.804,0.7276,0.68,0.56,0.75,,,,,,,,,,,,,,,,
synonymous_variant,OR10G4,SILENT,NM_001004462.1:p.Thr13Thr/c.39A>G,acA/acG,LOW,,,,rs12224056,,,,,,chr11,123886320,123886320,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr13Thr/c.39A>G|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR10G4,MISSENSE,NM_001004462.1:p.Leu24Pro/c.71T>C,cTc/cCc,MODERATE,,,,rs547068,0.35(T),0.0(B),0.51(N),-0.9026(T),,chr11,123886352,123886352,T,C,het,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu24Pro/c.71T>C|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,,,,,,,,0.107976(N),1.000(P),6.01(T),0.0023(T),0.268,-0.213094,3.49,-2.71,-0.898000,-1.205000,-0.326000,0.002000,0.000000,0.000000,12.2552
missense_variant,OR10G4,MISSENSE,NM_001004462.1:p.Gly146Ser/c.436G>A,Ggc/Agc,MODERATE,,0.132388,0.1597,rs503223,0.33(T),0.016(B),1.755(L),-1.0229(T),,chr11,123886717,123886717,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly146Ser/c.436G>A|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,0.0583,0.1671,0.0318,,,,,0.797597(N),1.000(P),1.13(T),0.0924(T),0.093,-0.689565,3.33,-6.67,-2.572000,-1.878000,-1.612000,0.009000,0.002000,0.000000,12.6425
missense_variant,OR10G4,MISSENSE,NM_001004462.1:p.Val195Glu/c.584T>A,gTg/gAg,MODERATE,COSM4145435(1),0.660543,0.7232,rs4084209,1(T),0.0(B),-2.29(N),-0.9343(T),,chr11,123886865,123886865,T,A,hom,missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val195Glu/c.584T>A|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,0.6339,0.7997,0.7276,0.70,0.56,0.76,,0.000244(N),1.000(P),9.09(T),0.0000(T),0.109,-3.072604,3.33,3.33,-0.354000,0.483000,0.614000,0.004000,0.851000,0.000000,2.8812
missense_variant,OR10G4,MISSENSE,NM_001004462.1:p.Arg235Gly/c.703A>G,Aga/Gga,MODERATE,,0.427316,0.3591,rs4936880,0(D),0.843(P),2.88(M),-1.1616(T),,chr11,123886984,123886984,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg235Gly/c.703A>G|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,0.3763,0.5014,0.4404,0.46,0.48,0.46,,0.006484(N),0.908(P),8.63(T),0.0000(T),0.181,2.819021,3.33,3.33,0.473000,1.529000,2.582000,0.770000,0.977000,0.370000,11.8736
missense_variant,OR10G4,MISSENSE,NM_001004462.1:p.Lys295Gln/c.883A>C,Aag/Cag,MODERATE,COSM147352(4),0.427716,0.3591,rs4936881,0.01(D),0.128(B),1.34(L),-0.9046(T),,chr11,123887164,123887164,A,C,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys295Gln/c.883A>C|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,0.3763,0.5029,0.4404,0.46,0.48,0.46,,0.014191(N),0.989(P),1.08(T),0.0000(T),0.085,2.121331,3.38,3.38,0.473000,1.547000,3.532000,0.941000,0.943000,0.772000,11.9412
synonymous_variant,OR10G4,SILENT,NM_001004462.1:p.Leu301Leu/c.903T>G,ctT/ctG,LOW,COSM147353(1),0.661741,0.7173,rs4936882,,,,,,chr11,123887184,123887184,T,G,hom,synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu301Leu/c.903T>G|311|OR10G4|protein_coding|CODING|NM_001004462.1|1|1),,,,,0.6329,0.804,0.7266,0.70,0.57,0.76,,,,,,,,,,,,,,,,
synonymous_variant,OR10G9,SILENT,NM_001001953.1:p.Arg139Arg/c.417A>G,agA/agG,LOW,,0.823283,0.7837,rs28499345,,,,,,chr11,123894136,123894136,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg139Arg/c.417A>G|311|OR10G9|protein_coding|CODING|NM_001001953.1|1|1),,,,,0.68,0.8876,0.8469,,,,,,,,,,,,,,,,,,,
missense_variant,OR10G9,MISSENSE,NM_001001953.1:p.Gln172Arg/c.515A>G,cAg/cGg,MODERATE,COSM147358(4),0.312899,0.503,rs11219413,0.48(T),0.007(B),0.38(N),-1.1364(T),,chr11,123894234,123894234,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln172Arg/c.515A>G|311|OR10G9|protein_coding|CODING|NM_001001953.1|1|1),,,,,0.2699,0.4553,0.2922,0.26,0.16,0.31,,0.603525(N),1.000(P),8.73(T),0.0000(T),0.079,-1.106189,3.48,-0.337,-2.135000,-0.180000,-1.239000,0.003000,0.965000,0.000000,3.8616
missense_variant,OR10G9,MISSENSE,NM_001001953.1:p.His228Arg/c.683A>G,cAc/cGc,MODERATE,COSM147361(3),0.325479,0.505,rs12221656,1(T),0.0(B),-0.855(N),-0.9240(T),,chr11,123894402,123894402,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His228Arg/c.683A>G|311|OR10G9|protein_coding|CODING|NM_001001953.1|1|1),,,,,0.2965,0.4568,0.2922,0.27,0.19,0.31,,0.231209(N),1.000(P),1.36(T),0.0000(T),0.102,-2.264974,3.44,2.52,-0.728000,0.297000,-1.055000,0.325000,0.991000,0.000000,3.8813
synonymous_variant,OR10G8,SILENT,NM_001004464.1:p.Leu282Leu/c.846C>A,ctC/ctA,LOW,COSM147364(1),0.0732827,0.0734,rs11825515,,,,,,chr11,123901175,123901175,C,A,het,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu282Leu/c.846C>A|311|OR10G8|protein_coding|CODING|NM_001004464.1|1|1),,,,,0.0798,0.0202,0.0308,0.06,0.12,0.03,,,,,,,,,,,,,,,,
synonymous_variant,OR10G7,SILENT,NM_001004463.1:p.Leu212Leu/c.636G>C,ctG/ctC,LOW,COSM3998289(1),0.239816,0.3363,rs11219419,,,,,,chr11,123909073,123909073,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu212Leu/c.636G>C|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),,,,,0.3231,0.3026,0.2873,0.23,0.09,0.31,,,,,,,,,,,,,,,,
synonymous_variant,OR10G7,SILENT,NM_001004463.1:p.Asp179Asp/c.537C>T,gaC/gaT,LOW,COSM3773582(2),0.225439,0.3135,rs28414940,,,,,,chr11,123909172,123909172,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp179Asp/c.537C>T|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),K562:H3K27me3,,,,0.2894,0.2867,0.2823,0.23,0.09,0.30,,,,,,,,,,,,,,,,
synonymous_variant,OR10G7,SILENT,NM_001004463.1:p.Leu123Leu/c.367C>T,Ctg/Ttg,LOW,COSM1743967(2),0.23722,0.3264,rs470242,,,,,,chr11,123909342,123909342,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu123Leu/c.367C>T|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),K562:H3K27me3,,,,0.3241,0.2983,0.2853,0.22,0.08,0.29,,,,,,,,,,,,,,,,
synonymous_variant,OR10G7,SILENT,NM_001004463.1:p.Pro24Pro/c.72C>A,ccC/ccA,LOW,COSM147367(2),,,rs4936889,,,,,,chr11,123909637,123909637,G,T,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro24Pro/c.72C>A|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR10G7,MISSENSE,NM_001004463.1:p.Gly20Ala/c.59G>C,gGg/gCg,MODERATE,COSM3998290(1),0.25639,0.3016,rs3894199,0.33(T),0.0(B),1.195(L),-1.0884(T),,chr11,123909650,123909650,C,G,het,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly20Ala/c.59G>C|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.2853,0.268,0.2495,,,,,0.915696(N),1.000(P),7.45(T),0.0000(T),0.064,-0.045682,3.38,-4.66,-2.377000,-1.244000,-0.342000,0.002000,0.000000,0.000000,1.36
missense_variant,OR10G7,MISSENSE,NM_001004463.1:p.Pro19Gln/c.56C>A,cCa/cAa,MODERATE,COSM3998291(1),0.25639,0.3016,rs4998340,0.19(T),0.019(B),1.995(M),-0.9362(T),,chr11,123909653,123909653,G,T,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro19Gln/c.56C>A|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.2853,0.268,0.2495,,,,,0.028491(N),1.000(P),7.44(T),0.0000(T),0.233,0.359951,3.38,0.354,-0.224000,-0.026000,-0.536000,0.004000,0.002000,0.000000,3.4492
missense_variant,OR10G7,MISSENSE,NM_001004463.1:p.Ala18Val/c.53C>T,gCc/gTc,MODERATE,COSM3998292(1),0.25639,0.3016,rs3894198,0.2(T),0.014(B),-0.18(N),-0.9581(T),,chr11,123909656,123909656,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala18Val/c.53C>T|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.2853,0.268,0.2495,,,,,0.768960(N),1.000(P),5.34(T),0.0000(T),0.132,1.319124,3.38,1.44,-0.224000,0.249000,-0.665000,0.005000,0.001000,0.000000,6.0996
missense_variant,OR10G7,MISSENSE,NM_001004463.1:p.Thr13Met/c.38C>T,aCg/aTg,MODERATE,,0.0784744,0.0744,rs11827843,0.2(T),0.003(B),0.27(N),-1.0663(T),,chr11,123909671,123909671,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr13Met/c.38C>T|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.0798,0.0288,0.0139,0.06,0.14,0.02,,0.791289(N),1.000(P),7.46(T),0.0000(T),0.035,0.233252,3.27,-2.34,-1.158000,-0.569000,-1.233000,0.028000,0.247000,0.000000,3.5223
missense_variant,OR10G7,MISSENSE,NM_001004463.1:p.Thr5Ser/c.14C>G,aCc/aGc,MODERATE,,0.618211,0.6964,rs3894197,0.58(T),0.0(B),0.755(N),-1.0081(T),,chr11,123909695,123909695,G,C,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr5Ser/c.14C>G|311|OR10G7|protein_coding|CODING|NM_001004463.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.6319,0.781,0.7237,0.66,0.47,0.76,,0.009247(N),1.000(P),1.23(T),0.0000(T),0.036,-0.684443,3.38,2.45,-0.224000,0.253000,-0.196000,0.002000,0.007000,0.000000,12.3056
synonymous_variant,VWA5A,SILENT,NM_001130142.1:p.Pro598Pro/c.1794G>A,ccG/ccA,LOW,,0.052516,0.0079,rs34188444,,,,,,chr11,124007890,124007890,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro598Pro/c.1794G>A|786|VWA5A|protein_coding|CODING|NM_001130142.1|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro598Pro/c.1794G>A|786|VWA5A|protein_coding|CODING|NM_014622.4|14|1)",NHEK:H3K36me3,,,,0.0276,0.036,0.0318,0.06,0.10,0.03,,,,,,,,,,,,,,,,
synonymous_variant,VWA5A,SILENT,NM_001130142.1:p.His735His/c.2205C>T,caC/caT,LOW,COSM3752193(1),0.604633,0.7093,rs1056615,,,,,,chr11,124015994,124015994,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His735His/c.2205C>T|786|VWA5A|protein_coding|CODING|NM_001130142.1|18|1),synonymous_variant(LOW|SILENT|caC/caT|p.His735His/c.2205C>T|786|VWA5A|protein_coding|CODING|NM_014622.4|17|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.3865,0.5403,0.5229,0.59,0.71,0.52,,,,,,,,,,,,,,,,
missense_variant,VWA5A,MISSENSE,NM_001130142.1:p.Arg757Cys/c.2269C>T,Cgt/Tgt,MODERATE,,0.0107827,0.002,rs117689747,0.01(D),0.772(P),1.04(L),-1.0569(T),,chr11,124016058,124016058,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg757Cys/c.2269C>T|786|VWA5A|protein_coding|CODING|NM_001130142.1|18|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg757Cys/c.2269C>T|786|VWA5A|protein_coding|CODING|NM_014622.4|17|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.0174,0.0173,0.0219,0.02,0.00,0.03,,0.594975(N),1.000(N),"1.43,1.43(T,T)",0.0336(T),0.117,1.644509,5.17,0.844,0.655000,0.304000,0.367000,0.016000,0.009000,0.003000,9.4412
missense_variant,OR8G2,MISSENSE,NM_001291438.1:p.Ile84Leu/c.250A>C,Atc/Ctc,MODERATE,,0.627995,0.4831,rs2466615,,,,,,chr11,124095647,124095647,A,C,het,missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile84Leu/c.250A>C|304|OR8G2|protein_coding|CODING|NM_001291438.1|1|1),"K562:Max,K562:PolII,K562:H3K27ac,K562:Nfe2,K562:H3K4me1,K562:USF1,K562:Cmyc,K562:E2F6,K562:Cjun,K562:H3K9ac,K562:H3K4me2,K562:H2AZ,K562:DNase1,K562:Jund",,,,0.684,0.5648,0.4831,0.59,0.79,0.49,,,,,,,,,,,,,,,,
missense_variant,OR8G2,MISSENSE,NM_001291438.1:p.Ile163Val/c.487A>G,Att/Gtt,MODERATE,,0.100639,0.131,rs2466614,,,,,,chr11,124095884,124095884,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile163Val/c.487A>G|304|OR8G2|protein_coding|CODING|NM_001291438.1|1|1),"K562:Max,K562:PolII,K562:H3K27ac,K562:Nfe2,K562:H3K4me1,K562:Cfos,K562:USF1,K562:Cmyc,K562:E2F6,K562:Cjun,K562:H3K4me2,K562:H2AZ,K562:DNase1,K562:Jund",,,,0.0961,0.1585,0.1441,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,OR8G2,MISSENSE,NM_001291438.1:p.Gly284Arg/c.850G>A,Ggg/Agg,MODERATE,,,,rs2466613,,,,,,chr11,124096247,124096247,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly284Arg/c.850G>A|304|OR8G2|protein_coding|CODING|NM_001291438.1|1|1),K562:H3K27ac,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,OR8G2,MISSENSE,NM_001291438.1:p.Ile293Thr/c.878T>C,aTt/aCt,MODERATE,,0.100639,0.131,rs2512268,,,,,,chr11,124096275,124096275,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile293Thr/c.878T>C|304|OR8G2|protein_coding|CODING|NM_001291438.1|1|1),K562:H3K27ac,,,,0.0961,0.1585,0.1441,0.10,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,OR8G2,MISSENSE,NM_001291438.1:p.Val294Ile/c.880G>A,Gtt/Att,MODERATE,,0.0986422,0.13,rs2466612,,,,,,chr11,124096277,124096277,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val294Ile/c.880G>A|304|OR8G2|protein_coding|CODING|NM_001291438.1|1|1),K562:H3K27ac,,,,0.0941,0.1527,0.1412,,,,,,,,,,,,,,,,,,,
stop_lost,OR8G1,MISSENSE,NM_001002905.1:p.Ter259Tyrext*?/c.777G>C,taG/taC,HIGH,,0.444688,0.5833,rs4268525,,,,,,chr11,124121199,124121199,G,C,het,"stop_lost(HIGH|MISSENSE|taG/taC|p.Ter259Tyrext*?/c.777G>C|308|OR8G1|protein_coding|CODING|NM_001002905.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.777G>C||OR8G1||CODING|NR_045681.1|1|1)",HMEC:H3K27me3,,,,0.2843,0.5591,0.5527,0.48,0.35,0.55,,,,,,,,,,,,,,,,
synonymous_variant,OR8G5,SILENT,NM_001005198.1:p.Gly7Gly/c.21G>A,ggG/ggA,LOW,,0.438299,0.5823,rs2466637,,,,,,chr11,124134743,124134743,G,A,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly7Gly/c.21G>A|346|OR8G5|protein_coding|CODING|NM_001005198.1|1|1),intron_variant(MODIFIER|||c.862-946G>A|308|OR8G1|protein_coding|CODING|NM_001002905.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3",,,,0.2843,0.5591,0.5527,0.48,0.34,0.55,,,,,,,,,,,,,,,,
missense_variant,OR8G5,MISSENSE,NM_001005198.1:p.Cys96Tyr/c.287G>A,tGt/tAt,MODERATE,,0.438498,0.5833,rs2512168,,,,,,chr11,124135009,124135009,G,A,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys96Tyr/c.287G>A|346|OR8G5|protein_coding|CODING|NM_001005198.1|1|1),intron_variant(MODIFIER|||c.862-680G>A|308|OR8G1|protein_coding|CODING|NM_001002905.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3",,,,0.2843,0.5591,0.5527,0.47,0.32,0.54,,,,,,,,,,,,,,,,
missense_variant,OR8G5,MISSENSE,NM_001005198.1:p.Gly239Glu/c.716G>A,gGa/gAa,MODERATE,,0.438498,0.5833,rs2512167,,,,,,chr11,124135438,124135438,G,A,het,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly239Glu/c.716G>A|346|OR8G5|protein_coding|CODING|NM_001005198.1|1|1),intron_variant(MODIFIER|||c.862-251G>A|308|OR8G1|protein_coding|CODING|NM_001002905.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3",,,,0.2843,0.5591,0.5527,0.48,0.33,0.55,,,,,,,,,,,,,,,,
synonymous_variant,OR8G5,SILENT,NM_001005198.1:p.Tyr253Tyr/c.759C>T,taC/taT,LOW,,0.438498,0.5833,rs2466701,,,,,,chr11,124135481,124135481,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr253Tyr/c.759C>T|346|OR8G5|protein_coding|CODING|NM_001005198.1|1|1),intron_variant(MODIFIER|||c.862-208C>T|308|OR8G1|protein_coding|CODING|NM_001002905.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3",,,,0.2843,0.5591,0.5527,0.48,0.34,0.55,,,,,,,,,,,,,,,,
missense_variant,OR8G5,MISSENSE,NM_001005198.1:p.Thr314Ala/c.940A>G,Act/Gct,MODERATE,,0.100439,0.13,rs2512166,,,,,,chr11,124135662,124135662,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr314Ala/c.940A>G|346|OR8G5|protein_coding|CODING|NM_001005198.1|1|1),intron_variant(MODIFIER|||c.862-27A>G|308|OR8G1|protein_coding|CODING|NM_001002905.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,K562:H3K36me3,HMEC:H3K27me3",,,,0.0961,0.1585,0.1441,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,OR8D2,MISSENSE,NM_001002918.1:p.Pro263Leu/c.788C>T,cCt/cTt,MODERATE,COSM3998300(1),0.277556,0.1895,rs2466620,0.02(D),0.419(B),0.8(N),-1.2671(T),,chr11,124189306,124189306,G,A,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro263Leu/c.788C>T|311|OR8D2|protein_coding|CODING|NM_001002918.1|1|1),HUVEC:H3K27me3,,,,0.3384,0.2003,0.1292,0.24,0.42,0.15,,0.037940(N),1.000(P),8.64(T),0.0000(T),0.088,2.407143,3.34,1.41,0.530000,0.435000,1.552000,0.975000,0.003000,0.008000,8.25
missense_variant,OR8D2,MISSENSE,NM_001002918.1:p.Arg122His/c.365G>A,cGt/cAt,MODERATE,COSM3998301(1),0.277556,0.1895,rs2512219,0(D),0.001(B),2.53(M),-1.0060(T),,chr11,124189729,124189729,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg122His/c.365G>A|311|OR8D2|protein_coding|CODING|NM_001002918.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.3384,0.2003,0.1292,0.24,0.42,0.15,,0.028104(N),0.305(P),-1.1(T),0.0000(T),0.038,0.938032,3.59,1.61,-0.271000,0.473000,5.273000,0.021000,0.318000,0.978000,9.5229
synonymous_variant,OR8B3,SILENT,NM_001005467.1:p.Cys112Cys/c.336T>C,tgT/tgC,LOW,COSM4145442(1),0.873403,0.8641,rs28398895,,,,,,chr11,124266912,124266912,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys112Cys/c.336T>C|313|OR8B3|protein_coding|CODING|NM_001005467.1|1|1),"HUVEC:H3K27me3,K562:Nfe2",,,,0.9121,0.8256,0.8419,,,,,,,,,,,,,,,,,,,
missense_variant,OR8B3,MISSENSE,NM_001005467.1:p.Gln24Arg/c.71A>G,cAg/cGg,MODERATE,COSM4145444(1),0.856829,0.8581,rs507360,0.06(T),0.167(B),1.74(L),-1.1248(T),,chr11,124267177,124267177,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln24Arg/c.71A>G|313|OR8B3|protein_coding|CODING|NM_001005467.1|1|1),HUVEC:H3K27me3,,,,0.8937,0.7983,0.83,0.76,0.78,0.75,,0.009087(N),0.999(P),6.33(T),0.0000(T),0.08,0.286093,3.64,2.52,-0.303000,0.745000,2.013000,0.002000,0.336000,0.082000,9.4715
missense_variant,OR8B3,MISSENSE,NM_001005467.1:p.His20Arg/c.59A>G,cAt/cGt,MODERATE,COSM4145445(1),0.858826,0.8571,rs507335,0.51(T),0.0(B),0.52(N),-1.0543(T),,chr11,124267189,124267189,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His20Arg/c.59A>G|313|OR8B3|protein_coding|CODING|NM_001005467.1|1|1),HUVEC:H3K27me3,,,,0.8978,0.8012,0.832,,,,,0.684592(N),1.000(P),5.0(T),0.0000(T),0.045,-1.403205,3.58,-5.33,-0.964000,-1.778000,-9.050000,0.008000,0.001000,0.000000,1.6496
missense_variant,OR8B4,MISSENSE,NM_001005196.1:p.Cys178Arg/c.532T>C,Tgt/Cgt,MODERATE,COSM4145446(1),0.28155,0.2163,rs4057749,0.01(D),0.995(D),3.76(H),-0.9658(T),,chr11,124294236,124294236,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys178Arg/c.532T>C|309|OR8B4|protein_coding|CODING|NM_001005196.1|1|1),"GM12878:H3K27me3,HepG2:H3K27me3",,,,0.2485,0.196,0.1988,0.28,0.39,0.23,,0.000019(D),0.000(P),0.02(T),0.0000(T),0.299,3.011484,4.02,4.02,0.529000,2.070000,7.016000,0.486000,1.000000,1.000000,13.7135
missense_variant,OR8B4,MISSENSE,NM_001005196.1:p.Cys140Phe/c.419G>T,tGc/tTc,MODERATE,,0.160743,0.1984,rs7116575,0.01(D),0.443(B),3.5(M),-0.9027(T),,chr11,124294349,124294349,C,A,het,missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys140Phe/c.419G>T|309|OR8B4|protein_coding|CODING|NM_001005196.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.092,0.111,0.0875,0.15,0.22,0.11,,0.000020(D),0.000(P),8.52(T),0.0000(T),0.325,1.641959,4.62,4.62,0.655000,2.564000,2.958000,0.018000,0.107000,0.919000,17.6029
missense_variant,OR8B4,MISSENSE,NM_001005196.1:p.Tyr131His/c.391T>C,Tac/Cac,MODERATE,,0.259984,0.2163,rs4057750,0.01(D),0.999(D),3.38(M),-0.9312(T),,chr11,124294377,124294377,A,G,hom,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr131His/c.391T>C|309|OR8B4|protein_coding|CODING|NM_001005196.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.2485,0.1931,0.1978,0.27,0.34,0.23,,0.000198(D),0.001(P),7.58(T),0.0000(T),0.334,3.530106,4.62,4.62,0.533000,2.073000,8.756000,0.531000,0.928000,1.000000,14.1353
missense_variant,OR8A1,MISSENSE,NM_001005194.1:p.Thr133Arg/c.398C>G,aCa/aGa,MODERATE,COSM3752196(1),0.272165,0.2659,rs55861866,0(D),0.836(P),3.635(H),-0.9883(T),,chr11,124440362,124440362,C,G,hom,missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr133Arg/c.398C>G|326|OR8A1|protein_coding|CODING|NM_001005194.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.3783,0.3847,0.3598,0.27,0.13,0.35,,0.000211(D),0.046(P),4.98(T),0.0000(T),0.312,3.552723,5.03,3.17,0.650000,0.707000,3.401000,0.982000,0.646000,0.734000,7.485
missense_variant,OR8A1,MISSENSE,NM_001005194.1:p.Ser218Leu/c.653C>T,tCg/tTg,MODERATE,COSM3752197(1),0.772564,0.8929,rs12792184,0.46(T),0.0(B),-0.29(N),-0.9027(T),,chr11,124440617,124440617,C,T,hom,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser218Leu/c.653C>T|326|OR8A1|protein_coding|CODING|NM_001005194.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.7434,0.7651,0.7316,0.75,0.76,0.75,,0.776891(N),1.000(P),8.89(T),0.0000(T),0.036,-0.924621,5.03,5.03,-0.269000,0.930000,1.166000,0.658000,0.277000,0.001000,7.3807
missense_variant,PANX3,MISSENSE,NM_052959.2:p.Thr208Ala/c.622A>G,Acc/Gcc,MODERATE,,0.0123802,0,rs35569094,0.49(T),0.003(B),1.39(L),-1.0264(T),,chr11,124489274,124489274,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr208Ala/c.622A>G|392|PANX3|protein_coding|CODING|NM_052959.2|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0368,0.013,0.0159,0.02,0.00,0.02,,0.000002(D),0.961(N),1.6(T),0.0237(T),0.048,1.703526,5.13,-0.103,0.459000,-0.273000,3.288000,0.996000,0.622000,1.000000,5.96
missense_variant,ESAM,MISSENSE,NM_138961.2:p.Arg273Cys/c.817C>T,Cgc/Tgc,MODERATE,,0.0565096,0.001,rs12792040,0.17(T),"0.95,0.912,0.719(D,D,P)",1.885(L),-0.7658(T),,chr11,124624150,124624150,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg273Cys/c.817C>T|390|ESAM|protein_coding|CODING|NM_138961.2|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.047,0.049,0.0855,0.08,0.08,0.08,,0.288860(N),0.025(P),"1.06,1.06,1.22,-1.1(T,T,T,T)",0.0294(T),0.338,2.899718,5.45,5.45,0.655000,2.558000,4.038000,0.170000,0.463000,0.469000,16.2074
missense_variant,ROBO3,MISSENSE,NM_022370.3:p.Val423Met/c.1267G>A,Gtg/Atg,MODERATE,,0.019369,0.002,rs4935898,0.19(T),0.835(P),1.725(L),-0.6641(T),,chr11,124742385,124742385,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val423Met/c.1267G>A|1386|ROBO3|protein_coding|CODING|NM_022370.3|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.045,0.0187,0.0348,0.04,0.01,0.05,,0.002164(N),1.000(D),"-0.88,-0.88(T,T)",0.1054(T),0.156,2.995298,5.7,4.79,0.655000,1.405000,4.315000,0.793000,0.881000,1.000000,5.3162
missense_variant,ROBO3,MISSENSE,NM_022370.3:p.Pro868Leu/c.2603C>T,cCg/cTg,MODERATE,COSM4145447(1),0.110823,0.0357,rs55706177,0.15(T),0.09(B),1.155(L),-1.0892(T),,chr11,124746180,124746180,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro868Leu/c.2603C>T|1386|ROBO3|protein_coding|CODING|NM_022370.3|17|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:Cmyc,K562:CTCFL,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,IMR90:H3K27ac,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.0583,0.0432,0.0487,0.09,0.18,0.05,,0.000982(D),0.999(P),"-0.16,-0.14(T,T)",0.0001(T),0.242,1.522503,4.88,-8.48E-4,-0.302000,0.423000,-0.243000,0.031000,0.632000,0.000000,5.3089
synonymous_variant,ROBO3,SILENT,NM_022370.3:p.Ala997Ala/c.2991G>A,gcG/gcA,LOW,,0.631989,0.4276,rs7933204,,,,,,chr11,124747837,124747837,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala997Ala/c.2991G>A|1386|ROBO3|protein_coding|CODING|NM_022370.3|21|1),"GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K4me2,HUVEC:DNase1,HUVEC:H3K4me2,HeLa-S3:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.5665,0.4957,0.6918,0.73,0.83,0.68,,,,,,,,,,,,,,,,
synonymous_variant,ROBO4,SILENT,NM_019055.5:p.His215His/c.645T>C,caT/caC,LOW,,0.495807,0.4534,rs4078313,,,,,,chr11,124766128,124766128,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His70His/c.210T>C|862|ROBO4|protein_coding|CODING|NM_001301088.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His215His/c.645T>C|1007|ROBO4|protein_coding|CODING|NM_019055.5|4|1)","GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K36me3,HUVEC:H3K9ac,HUVEC:H3K4me2,K562:H3K27me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.4223,0.2853,0.334,0.45,0.72,0.31,,,,,,,,,,,,,,,,
missense_variant,ROBO4,MISSENSE,NM_019055.5:p.Gln54Arg/c.161A>G,cAa/cGa,MODERATE,COSM3752203(1),0.384585,0.378,rs59648931,0.79(T),0.0(B),0.54(N),-0.9328(T),,chr11,124767067,124767067,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln54Arg/c.161A>G|1007|ROBO4|protein_coding|CODING|NM_019055.5|2|1),intron_variant(MODIFIER|||c.-159-116A>G|862|ROBO4|protein_coding|CODING|NM_001301088.1|1|1)","GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HUVEC:H3K9ac,HMEC:H3K4me2,HSMM:DNase1,HUVEC:H3K4me2,K562:H3K27me3,HMEC:H3K4me1,HUVEC:H3K27ac,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.2894,0.2176,0.2555,0.34,0.56,0.23,,0.292246(N),0.997(P),-0.25(T),0.0000(T),0.025,-0.144625,5.29,0.134,-0.215000,-0.125000,-0.519000,0.934000,0.436000,0.000000,10.1259
synonymous_variant,ROBO4,SILENT,NM_019055.5:p.Leu35Leu/c.103C>T,Cta/Tta,LOW,COSM3752204(1),0.0994409,0.2054,rs73016370,,,,,,chr11,124767125,124767125,G,A,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu35Leu/c.103C>T|1007|ROBO4|protein_coding|CODING|NM_019055.5|2|1),intron_variant(MODIFIER|||c.-159-174C>T|862|ROBO4|protein_coding|CODING|NM_001301088.1|1|1)","GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HUVEC:H3K9ac,HMEC:H3K4me2,HSMM:DNase1,HUVEC:H3K4me2,K562:H3K27me3,HMEC:H3K4me1,HUVEC:H3K27ac,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.1411,0.0735,0.0974,0.07,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,CCDC15,MISSENSE,NM_025004.2:p.Gly529Asp/c.1586G>A,gGc/gAc,MODERATE,COSM1352340(4),0.286941,0.1935,rs4936966,0.9(T),0.0(B),-1.445(N),-0.9503(T),,chr11,124857708,124857708,G,A,hom,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly529Asp/c.1586G>A|951|CCDC15|protein_coding|CODING|NM_025004.2|8|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3047,0.1801,0.1958,0.27,0.43,0.20,,0.022219(N),1.000(P),"1.61,1.66(T,T)",0.0000(T),0.069,0.269138,4.23,-2.98,-0.451000,-0.801000,0.082000,0.157000,0.000000,0.002000,0.3885
synonymous_variant,CCDC15,SILENT,NM_025004.2:p.Glu690Glu/c.2070A>G,gaA/gaG,LOW,COSM3752208(1),0.286941,0.1935,rs6590113,,,,,,chr11,124862514,124862514,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu690Glu/c.2070A>G|951|CCDC15|protein_coding|CODING|NM_025004.2|10|1),"HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3047,0.1801,0.1958,0.27,0.43,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CCDC15,SILENT,NM_025004.2:p.Pro737Pro/c.2211C>A,ccC/ccA,LOW,COSM3752211(1),0.286941,0.1935,rs7951202,,,,,,chr11,124863136,124863136,C,A,hom,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro737Pro/c.2211C>A|951|CCDC15|protein_coding|CODING|NM_025004.2|11|1),"HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3047,0.1801,0.1958,0.27,0.43,0.20,,,,,,,,,,,,,,,,
missense_variant,CCDC15,MISSENSE,NM_025004.2:p.Cys813Arg/c.2437T>C,Tgt/Cgt,MODERATE,,0.229433,0.1825,rs7107487,1(T),0.0(B),-1.975(N),-0.9211(T),,chr11,124908352,124908352,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys813Arg/c.2437T>C|951|CCDC15|protein_coding|CODING|NM_025004.2|14|1),"HUVEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.2464,0.1398,0.1481,0.21,0.33,0.16,,,0.162(P),"2.16,2.08(T,T)",0.0000(T),0.092,-0.818673,5.0,3.11,-0.349000,0.244000,1.147000,0.926000,0.973000,0.991000,5.8186
synonymous_variant,SLC37A2,SILENT,NM_198277.2:p.Ser55Ser/c.165G>A,tcG/tcA,LOW,COSM1127864(3),0.336861,0.1419,rs12276567,,,,,,chr11,124947149,124947149,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser55Ser/c.165G>A|501|SLC37A2|protein_coding|CODING|NM_001145290.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser55Ser/c.165G>A|505|SLC37A2|protein_coding|CODING|NM_198277.2|3|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3916,0.2925,0.2634,0.33,0.47,0.26,,,,,,,,,,,,,,,,
missense_variant,SLC37A2,MISSENSE,NM_198277.2:p.Ile96Val/c.286A>G,Atc/Gtc,MODERATE,COSM3752212(1),0.377196,0.1468,rs55752830,0.83(T),"0.0,0.001(B,B)",-1.445(N),-0.9438(T),,chr11,124947396,124947396,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile96Val/c.286A>G|501|SLC37A2|protein_coding|CODING|NM_001145290.1|4|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile96Val/c.286A>G|505|SLC37A2|protein_coding|CODING|NM_198277.2|4|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.409,0.3689,0.3757,0.40,0.49,0.35,,0.000000(N),1.000(P),"0.41,0.41,0.41,0.41,0.41(T,T,T,T,T)",0.0000(T),0.032,-1.091165,4.5,3.56,-0.227000,1.128000,2.952000,0.004000,0.818000,1.000000,10.8993
synonymous_variant,SLC37A2,SILENT,NM_198277.2:p.Tyr117Tyr/c.351C>T,taC/taT,LOW,COSM147371(2),0.132588,0.0605,rs33932952,,,,,,chr11,124949044,124949044,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr117Tyr/c.351C>T|501|SLC37A2|protein_coding|CODING|NM_001145290.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr117Tyr/c.351C>T|505|SLC37A2|protein_coding|CODING|NM_198277.2|5|1)","HMEC:H3K36me3,NH-A:DNase1,NHEK:H3K36me3",,,,0.1033,0.1023,0.1918,0.20,0.20,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SLC37A2,SILENT,NM_198277.2:p.Asp415Asp/c.1245T>C,gaT/gaC,LOW,COSM4145457(1),0.665136,0.4643,rs386622897,,,,,,chr11,124955032,124955032,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp415Asp/c.1245T>C|501|SLC37A2|protein_coding|CODING|NM_001145290.1|14|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp415Asp/c.1245T>C|505|SLC37A2|protein_coding|CODING|NM_198277.2|14|1)","GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.6431,0.513,0.6213,0.71,0.89,0.62,,,,,,,,,,,,,,,,
synonymous_variant,TMEM218,SILENT,NM_001258239.1:p.Arg34Arg/c.102C>T,cgC/cgT,LOW,,0.000798722,0,rs201160103,,,,,,chr11,124972141,124972141,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg34Arg/c.102C>T|150|TMEM218|protein_coding|CODING|NM_001258239.1|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg34Arg/c.102C>T|150|TMEM218|protein_coding|CODING|NM_001258242.1|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg34Arg/c.102C>T|150|TMEM218|protein_coding|CODING|NM_001258243.1|4|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg34Arg/c.102C>T|150|TMEM218|protein_coding|CODING|NM_001258246.1|3|1),5_prime_UTR_variant(MODIFIER||4|c.-4C>T|115|TMEM218|protein_coding|CODING|NM_001258247.1|3|1),5_prime_UTR_variant(MODIFIER||4|c.-4C>T|115|TMEM218|protein_coding|CODING|NM_001258238.1|3|1),5_prime_UTR_variant(MODIFIER||4|c.-4C>T|115|TMEM218|protein_coding|CODING|NM_001258240.1|5|1),5_prime_UTR_variant(MODIFIER||4|c.-4C>T|115|TMEM218|protein_coding|CODING|NM_001258241.1|4|1),5_prime_UTR_variant(MODIFIER||4|c.-4C>T|115|TMEM218|protein_coding|CODING|NM_001258244.1|3|1),5_prime_UTR_variant(MODIFIER||4|c.-4C>T|115|TMEM218|protein_coding|CODING|NM_001258245.1|5|1),5_prime_UTR_variant(MODIFIER||4|c.-4C>T|115|TMEM218|protein_coding|CODING|NM_001080546.2|3|1),intron_variant(MODIFIER|||n.246+489C>T||TMEM218||CODING|NR_047589.1|2|1),intron_variant(MODIFIER|||n.305+489C>T||TMEM218||CODING|NR_047591.1|3|1),intron_variant(MODIFIER|||n.178-942C>T||TMEM218||CODING|NR_047587.1|1|1),non_coding_exon_variant(MODIFIER|||n.328C>T||TMEM218||CODING|NR_047586.1|3|1),non_coding_exon_variant(MODIFIER|||n.416C>T||TMEM218||CODING|NR_047588.1|3|1),non_coding_exon_variant(MODIFIER|||n.319C>T||TMEM218||CODING|NR_047592.1|3|1),non_coding_exon_variant(MODIFIER|||n.353C>T||TMEM218||CODING|NR_047590.1|3|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0,0.0014,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,TMEM218,MISSENSE,NM_001258239.1:p.Leu12Ser/c.35T>C,tTg/tCg,MODERATE,,0.791933,0.7817,rs14065,,,,,,chr11,124972208,124972208,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu12Ser/c.35T>C|150|TMEM218|protein_coding|CODING|NM_001258239.1|3|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu12Ser/c.35T>C|150|TMEM218|protein_coding|CODING|NM_001258242.1|3|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu12Ser/c.35T>C|150|TMEM218|protein_coding|CODING|NM_001258243.1|4|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu12Ser/c.35T>C|150|TMEM218|protein_coding|CODING|NM_001258246.1|3|1),5_prime_UTR_variant(MODIFIER||71|c.-71T>C|115|TMEM218|protein_coding|CODING|NM_001258238.1|3|1),5_prime_UTR_variant(MODIFIER||71|c.-71T>C|115|TMEM218|protein_coding|CODING|NM_001258240.1|5|1),5_prime_UTR_variant(MODIFIER||71|c.-71T>C|115|TMEM218|protein_coding|CODING|NM_001258241.1|4|1),5_prime_UTR_variant(MODIFIER||71|c.-71T>C|115|TMEM218|protein_coding|CODING|NM_001258244.1|3|1),5_prime_UTR_variant(MODIFIER||71|c.-71T>C|115|TMEM218|protein_coding|CODING|NM_001258245.1|5|1),5_prime_UTR_variant(MODIFIER||71|c.-71T>C|115|TMEM218|protein_coding|CODING|NM_001080546.2|3|1),intron_variant(MODIFIER|||n.246+422T>C||TMEM218||CODING|NR_047589.1|2|1),intron_variant(MODIFIER|||n.305+422T>C||TMEM218||CODING|NR_047591.1|3|1),intron_variant(MODIFIER|||n.178-1009T>C||TMEM218||CODING|NR_047587.1|1|1),intron_variant(MODIFIER|||c.-61-10T>C|115|TMEM218|protein_coding|CODING|NM_001258247.1|2|1),non_coding_exon_variant(MODIFIER|||n.261T>C||TMEM218||CODING|NR_047586.1|3|1),non_coding_exon_variant(MODIFIER|||n.349T>C||TMEM218||CODING|NR_047588.1|3|1),non_coding_exon_variant(MODIFIER|||n.252T>C||TMEM218||CODING|NR_047592.1|3|1),non_coding_exon_variant(MODIFIER|||n.286T>C||TMEM218||CODING|NR_047590.1|3|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8282,0.6513,0.7247,,,,,,,,,,,,,,,,,,,
missense_variant,FEZ1,MISSENSE,NM_005103.4:p.Asp123Glu/c.369T>A,gaT/gaA,MODERATE,COSM3752217(1),0.140974,0.0635,rs597570,0.54(T),"0.192,0.067(B,B)",1.61(L),-1.0065(T),,chr11,125351472,125351472,A,T,het,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp123Glu/c.369T>A|392|FEZ1|protein_coding|CODING|NM_005103.4|3|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0716,0.1153,0.1918,0.20,0.22,0.19,,0.040449(N),0.000(P),1.56(T),0.0000(T),0.11,1.892948,5.89,3.0,-0.242000,0.801000,2.214000,0.992000,1.000000,1.000000,9.1883
missense_variant,EI24,MISSENSE,NM_004879.4:p.His286Arg/c.857A>G,cAt/cGt,MODERATE,,0.340455,0.2976,rs4627097,0.11(T),0.0(B),,-0.9486(T),,chr11,125452313,125452313,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His272Arg/c.815A>G|325|EI24|protein_coding|CODING|NM_001290135.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His286Arg/c.857A>G|339|EI24|protein_coding|CODING|NM_004879.4|10|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.815A>G|325|EI24|protein_coding|CODING|NM_001290135.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.857A>G|339|EI24|protein_coding|CODING|NM_004879.4|10|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||n.968A>G||EI24||CODING|NR_110769.1|9|1),splice_region_variant(LOW|||n.1239A>G||EI24||CODING|NR_110770.1|11|1),non_coding_exon_variant(MODIFIER|||n.968A>G||EI24||CODING|NR_110769.1|9|1),non_coding_exon_variant(MODIFIER|||n.1239A>G||EI24||CODING|NR_110770.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3579,0.2594,0.3658,0.36,0.37,0.35,,,0.000(P),,0.0000(T),0.406,1.078074,4.73,-7.71,-1.951000,-1.390000,-1.460000,0.882000,0.795000,0.001000,6.6214
synonymous_variant,STT3A,SILENT,NM_001278503.1:p.Ser332Ser/c.996G>A,tcG/tcA,LOW,,0.419329,0.4335,rs2241502,,,,-0.9114(T),,chr11,125479363,125479363,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser332Ser/c.996G>A|705|STT3A|protein_coding|CODING|NM_001278503.1|11|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser240Ser/c.720G>A|613|STT3A|protein_coding|CODING|NM_001278504.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser332Ser/c.996G>A|705|STT3A|protein_coding|CODING|NM_152713.4|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.409,0.2752,0.3787,0.41,0.50,0.37,,,0.000(P),,0.0000(T),.,3.961505,5.4,-4.43,-1.905000,-0.923000,-0.694000,0.919000,0.950000,0.016000,0.9414
missense_variant,CHEK1,MISSENSE,NM_001114121.2:p.Ile471Val/c.1411A>G,Att/Gtt,MODERATE,,0.985823,1,rs506504,1(T),"0.001,0.001,0.0(B,B,B)",-0.895(N),-0.9511(T),,chr11,125525195,125525195,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile471Val/c.1411A>G|476|CHEK1|protein_coding|CODING|NM_001114121.2|13|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile471Val/c.1411A>G|476|CHEK1|protein_coding|CODING|NM_001114122.2|13|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile437Val/c.1309A>G|442|CHEK1|protein_coding|CODING|NM_001244846.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile471Val/c.1411A>G|476|CHEK1|protein_coding|CODING|NM_001274.5|13|1),non_coding_exon_variant(MODIFIER|||n.2084A>G||CHEK1||CODING|NR_045204.1|12|1),non_coding_exon_variant(MODIFIER|||n.1845A>G||CHEK1||CODING|NR_045205.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9847,0.9726,0.9672,0.97,0.99,0.96,,0.000671(N),1.000(P),"-0.5,-0.16,-0.5,-0.51,-0.5,-0.5,-0.52(T,T,T,T,T,T,T)",0.0000(T),0.056,-0.212733,6.03,1.8,-0.227000,0.448000,1.178000,0.811000,1.000000,1.000000,2.296
missense_variant,PATE1,MISSENSE,NM_138294.2:p.Gln47Arg/c.140A>G,cAg/cGg,MODERATE,,0.33746,0.4375,rs2114084,0.25(T),"0.876,0.929(P,D)",1.245(L),-0.9345(T),,chr11,125617610,125617610,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln47Arg/c.140A>G|126|PATE1|protein_coding|CODING|NM_138294.2|4|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.3088,0.2219,0.2893,0.32,0.38,0.29,,0.059503(N),0.957(P),"1.37,1.37(T,T)",0.0000(T),0.294,1.148572,4.19,4.19,0.533000,2.115000,1.778000,0.188000,0.664000,0.341000,9.9222
splice_acceptor_variant,PATE4,protein_coding,NM_001144874.1:c.59A>C,,HIGH,COSM3986018(1),0.492812,0.5308,rs11220236,,,,,PATE4:1.00(1);,chr11,125707761,125707761,A,C,het,"splice_acceptor_variant(HIGH|||c.59A>C|98|PATE4|protein_coding|CODING|NM_001144874.1|2|1),intron_variant(MODIFIER|||c.59-2A>C|98|PATE4|protein_coding|CODING|NM_001144874.1|1|1)",HepG2:H3K27me3,,,,0.5164,0.4553,0.5775,,,,,,0.997(P),,,.,2.195114,1.33,1.33,0.378000,0.862000,1.272000,0.784000,0.006000,0.033000,4.8024
missense_variant,PUS3,MISSENSE,NM_031307.3:p.Glu460Asp/c.1380G>C,gaG/gaC,MODERATE,COSM3998313(1),0.458666,0.5327,rs3088241,0.44(T),0.003(B),1.61(L),-0.9218(T),,chr11,125763746,125763746,C,G,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu252Asp/c.756G>C|273|PUS3|protein_coding|CODING|NM_001271985.1|3|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu460Asp/c.1380G>C|481|PUS3|protein_coding|CODING|NM_031307.3|4|1),intron_variant(MODIFIER|||c.-81+2379C>G|299|HYLS1|protein_coding|CODING|NM_145014.2|2|1),intron_variant(MODIFIER|||c.-26+2379C>G|299|HYLS1|protein_coding|CODING|NM_001134793.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4519,0.4236,0.501,0.47,0.40,0.50,,0.286428(N),0.896(P),"1.5,1.5(T,T)",0.0000(T),0.128,0.931769,4.92,-2.14,0.591000,-0.433000,-0.041000,0.363000,0.138000,0.340000,6.2703
missense_variant,PUS3,MISSENSE,NM_031307.3:p.Ala46Ser/c.136G>T,Gca/Tca,MODERATE,COSM1127862(1),0.63738,0.6964,rs549990,0.84(T),0.0(B),-1.04(N),-0.9385(T),,chr11,125766044,125766044,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala46Ser/c.136G>T|481|PUS3|protein_coding|CODING|NM_031307.3|2|1),intron_variant(MODIFIER|||c.-80-2955C>A|299|HYLS1|protein_coding|CODING|NM_145014.2|2|1),intron_variant(MODIFIER|||c.-25-3195C>A|299|HYLS1|protein_coding|CODING|NM_001134793.1|2|1),intron_variant(MODIFIER|||c.-246-360G>T|273|PUS3|protein_coding|CODING|NM_001271985.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.6023,0.673,0.66,0.63,0.68,,0.257382(N),1.000(P),"1.49,1.49,0.53,1.55(T,T,T,T)",0.0000(T),0.075,-2.066169,5.11,3.91,-0.310000,1.082000,0.706000,0.303000,0.629000,0.000000,2.1408
missense_variant,PUS3,MISSENSE,NM_031307.3:p.Tyr3Asp/c.7T>G,Tat/Gat,MODERATE,,0.802716,0.8542,rs622756,0.52(T),0.0(B),0(N),-0.9848(T),,chr11,125766173,125766173,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr3Asp/c.7T>G|481|PUS3|protein_coding|CODING|NM_031307.3|2|1),intron_variant(MODIFIER|||c.-80-2826A>C|299|HYLS1|protein_coding|CODING|NM_145014.2|2|1),intron_variant(MODIFIER|||c.-25-3066A>C|299|HYLS1|protein_coding|CODING|NM_001134793.1|2|1),intron_variant(MODIFIER|||c.-246-489T>G|273|PUS3|protein_coding|CODING|NM_001271985.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8609,0.889,0.8569,0.80,0.68,0.87,,0.025741(N),0.000(P),"1.58,1.58,0.58,1.57(T,T,T,T)",0.0000(T),0.118,-1.062392,5.93,5.02,-0.121000,0.862000,0.899000,0.306000,1.000000,0.963000,4.1188
synonymous_variant,DDX25,SILENT,NM_013264.4:p.Cys398Cys/c.1194T>C,tgT/tgC,LOW,COSM3752220(1),0.689896,0.6627,rs683155,,,,,,chr11,125788678,125788678,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys398Cys/c.1194T>C|483|DDX25|protein_coding|CODING|NM_013264.4|10|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:CTCF",,,,0.6626,0.7507,0.675,0.69,0.71,0.68,,,,,,,,,,,,,,,,
missense_variant,CDON,MISSENSE,NM_001243597.1:p.Ile1244Asn/c.3731T>A,aTc/aAc,MODERATE,,,,rs684535,1(T),"0.0,0.0,0.0(B,B,B)",-1.7(N),-0.9502(T),,chr11,125830970,125830970,A,T,hom,"missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile1244Asn/c.3731T>A|1287|CDON|protein_coding|CODING|NM_001243597.1|20|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile1221Asn/c.3662T>A|1264|CDON|protein_coding|CODING|NM_016952.4|20|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3,HepG2:H3K36me3",,,,,,,0.73,0.83,0.68,,0.175374(N),1.000(P),"-0.03,0.56,-0.19(T,T,T)",0.0000(T),0.131,-1.989020,5.46,4.34,-0.257000,0.515000,0.438000,0.003000,0.581000,0.664000,3.1381
synonymous_variant,CDON,SILENT,NM_001243597.1:p.Val1183Val/c.3549C>T,gtC/gtT,LOW,,0.242212,0.2837,rs2276061,,,,,,chr11,125831701,125831701,G,A,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1183Val/c.3549C>T|1287|CDON|protein_coding|CODING|NM_001243597.1|19|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1183Val/c.3549C>T|1264|CDON|protein_coding|CODING|NM_016952.4|19|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,HMEC:H3K27me3,HepG2:H3K36me3",,,,0.3108,0.2565,0.3091,0.25,0.13,0.31,,,,,,,,,,,,,,,,
synonymous_variant,CDON,SILENT,NM_001243597.1:p.Thr1098Thr/c.3294G>A,acG/acA,LOW,COSM147373(2),0.399561,0.4127,rs3740904,,,,,,chr11,125848261,125848261,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr1098Thr/c.3294G>A|1287|CDON|protein_coding|CODING|NM_001243597.1|18|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1098Thr/c.3294G>A|1264|CDON|protein_coding|CODING|NM_016952.4|18|1)","GM12878:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.4059,0.4337,0.3797,0.36,0.35,0.36,,,,,,,,,,,,,,,,
missense_variant,CDON,MISSENSE,NM_001243597.1:p.Val75Ile/c.223G>A,Gtt/Att,MODERATE,COSM147377(1),0.572284,0.3452,rs3740912,,,0.38(N),-0.9603(T),,chr11,125891269,125891269,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val75Ile/c.223G>A|1287|CDON|protein_coding|CODING|NM_001243597.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val75Ile/c.223G>A|1264|CDON|protein_coding|CODING|NM_016952.4|3|1)","GM12878:H3K27me3,HSMM:H3K36me3,HepG2:H3K36me3",,RCV000081795.1,,0.5041,0.5173,0.5308,0.65,0.80,0.56,,,1.000(P),,0.0000(T),.,-1.905451,5.4,1.84,-1.755000,0.052000,1.485000,0.019000,0.006000,0.977000,4.7519
synonymous_variant,TIRAP,SILENT,NM_148910.2:p.Ala186Ala/c.558C>T,gcC/gcT,LOW,COSM3752225(1),0.133986,0.0397,rs7932766,,,,,,chr11,126162862,126162862,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala186Ala/c.558C>T|221|TIRAP|protein_coding|CODING|NM_001039661.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala186Ala/c.558C>T|235|TIRAP|protein_coding|CODING|NM_148910.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.1513,0.1398,0.2227,0.20,0.13,0.24,,,,,,,,,,,,,,,,
synonymous_variant,DCPS,SILENT,NM_014026.3:p.Phe63Phe/c.189C>T,ttC/ttT,LOW,COSM4145484(1),0.305711,0.624,rs695029,,,,,,chr11,126174164,126174164,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe63Phe/c.189C>T|337|DCPS|protein_coding|CODING|NM_014026.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,IMR90:H2BK120ac,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,CD4:H4K12ac,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,HeLa-S3:E2F6",,,,0.3374,0.3905,0.2008,0.17,0.11,0.20,,,,,,,,,,,,,,,,
synonymous_variant,DCPS,SILENT,NM_014026.3:p.Gln105Gln/c.315G>A,caG/caA,LOW,COSM4145485(1),0.932907,1,rs637462,,,,,,chr11,126176578,126176578,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln105Gln/c.315G>A|337|DCPS|protein_coding|CODING|NM_014026.3|2|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9448,0.9035,0.7972,0.86,0.97,0.81,,,,,,,,,,,,,,,,
synonymous_variant,DCPS,SILENT,NM_014026.3:p.Asn160Asn/c.480T>C,aaT/aaC,LOW,COSM3998318(1),0.23103,0.2054,rs616360,,,,,,chr11,126201403,126201403,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn160Asn/c.480T>C|337|DCPS|protein_coding|CODING|NM_014026.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.2695,0.2465,0.24,0.22,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ST3GAL4,SILENT,NM_001254757.1:p.Tyr84Tyr/c.252C>T,taC/taT,LOW,COSM3752227(2),0.346246,0.5099,rs2230278,,,,,,chr11,126277216,126277216,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr84Tyr/c.252C>T|333|ST3GAL4|protein_coding|CODING|NM_001254757.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr84Tyr/c.252C>T|333|ST3GAL4|protein_coding|CODING|NM_001254758.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr83Tyr/c.249C>T|332|ST3GAL4|protein_coding|CODING|NM_001254759.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr80Tyr/c.240C>T|329|ST3GAL4|protein_coding|CODING|NM_006278.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1973,0.3242,0.3181,0.32,0.35,0.30,,,,,,,,,,,,,,,,
synonymous_variant,ST3GAL4,SILENT,NM_001254757.1:p.Tyr141Tyr/c.423C>T,taC/taT,LOW,COSM3752228(1),0.344848,0.5079,rs2230279,,,,,,chr11,126278075,126278075,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr141Tyr/c.423C>T|333|ST3GAL4|protein_coding|CODING|NM_001254757.1|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr141Tyr/c.423C>T|333|ST3GAL4|protein_coding|CODING|NM_001254758.1|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr140Tyr/c.420C>T|332|ST3GAL4|protein_coding|CODING|NM_001254759.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr137Tyr/c.411C>T|329|ST3GAL4|protein_coding|CODING|NM_006278.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2025,0.3256,0.3101,0.32,0.35,0.30,,,,,,,,,,,,,,,,
synonymous_variant,KIRREL3,SILENT,NM_032531.3:p.Gly665Gly/c.1995C>T,ggC/ggT,LOW,,0.703674,0.9067,rs948052,,,,,,chr11,126294817,126294817,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly653Gly/c.1959C>T|766|KIRREL3|protein_coding|CODING|NM_001301097.1|16|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly665Gly/c.1995C>T|778|KIRREL3|protein_coding|CODING|NM_032531.3|17|1)","GM06990:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000117432.2,,0.6247,0.5677,0.6491,0.66,0.73,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ETS1,SILENT,NM_001143820.1:p.Leu381Leu/c.1143A>G,ctA/ctG,LOW,,0.479633,0.5962,rs2230004,,,,,,chr11,128333503,128333503,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu381Leu/c.1143A>G|485|ETS1|protein_coding|CODING|NM_001143820.1|9|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu121Leu/c.363A>G|225|ETS1|protein_coding|CODING|NM_001162422.1|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu337Leu/c.1011A>G|441|ETS1|protein_coding|CODING|NM_005238.3|7|1)","CD4:H2BK5ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4591,0.3646,0.493,0.47,0.47,0.47,,,,,,,,,,,,,,,,
missense_variant,KCNJ5,MISSENSE,NM_000890.3:p.Gln282Glu/c.844C>G,Cag/Gag,MODERATE,COSM3812417(1),0.995008,1,rs7102584,1(T),0.0(B),-1.825(N),-0.9067(T),,chr11,128782012,128782012,C,G,hom,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln282Glu/c.844C>G|419|KCNJ5|protein_coding|CODING|NM_000890.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.998,0.9942,0.9841,0.99,1.00,0.98,,0.000000(N),0.997(P),"-2.58,-2.58,-2.58(D,D,D)",0.0000(T),0.022,0.301900,5.46,5.46,-0.216000,1.316000,6.844000,0.895000,0.892000,1.000000,16.4522
synonymous_variant,ARHGAP32,SILENT,NM_001142685.1:p.Arg1398Arg/c.4194C>T,cgC/cgT,LOW,,0.00399361,0,rs61748829,,,,,,chr11,128840872,128840872,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1398Arg/c.4194C>T|2087|ARHGAP32|protein_coding|CODING|NM_001142685.1|22|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1049Arg/c.3147C>T|1738|ARHGAP32|protein_coding|CODING|NM_014715.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.002,0,0.0179,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP32,SILENT,NM_001142685.1:p.Glu376Glu/c.1128A>G,gaA/gaG,LOW,COSM147379(1),0.571086,0.5813,rs386604511,,,,,,chr11,128868239,128868239,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu376Glu/c.1128A>G|2087|ARHGAP32|protein_coding|CODING|NM_001142685.1|11|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu27Glu/c.81A>G|1738|ARHGAP32|protein_coding|CODING|NM_014715.3|2|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.4151,0.5951,0.6769,0.66,0.59,0.69,,,,,,,,,,,,,,,,
synonymous_variant,TMEM45B,SILENT,NM_138788.3:p.Gln206Gln/c.618G>A,caG/caA,LOW,,0.0517173,0.0079,rs78733006,,,,,,chr11,129727255,129727255,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln206Gln/c.618G>A|275|TMEM45B|protein_coding|CODING|NM_138788.3|5|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1738,0.0288,0.0586,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,NFRKB,SILENT,NM_006165.3:p.Gly577Gly/c.1731C>A,ggC/ggA,LOW,,0.273762,0.3869,rs2229650,,,,,,chr11,129746707,129746707,G,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly552Gly/c.1656C>A|1299|NFRKB|protein_coding|CODING|NM_001143835.1|17|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly577Gly/c.1731C>A|1324|NFRKB|protein_coding|CODING|NM_006165.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3374,0.2349,0.2018,0.18,0.20,0.16,,,,,,,,,,,,,,,,
synonymous_variant,NFRKB,SILENT,NM_006165.3:p.Thr271Thr/c.813T>C,acT/acC,LOW,,0.764377,0.6647,rs1131972,,,,,,chr11,129754644,129754644,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr246Thr/c.738T>C|1299|NFRKB|protein_coding|CODING|NM_001143835.1|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr271Thr/c.813T>C|1324|NFRKB|protein_coding|CODING|NM_006165.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6861,0.6902,0.7097,0.79,0.93,0.71,,,,,,,,,,,,,,,,
synonymous_variant,NFRKB,SILENT,NM_006165.3:p.Thr263Thr/c.789A>G,acA/acG,LOW,,0.16853,0.0565,rs2303662,,,,,,chr11,129754668,129754668,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr238Thr/c.714A>G|1299|NFRKB|protein_coding|CODING|NM_001143835.1|7|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr263Thr/c.789A>G|1324|NFRKB|protein_coding|CODING|NM_006165.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2996,0.111,0.1859,0.16,0.17,0.16,,,,,,,,,,,,,,,,
synonymous_variant,PRDM10,SILENT,NM_020228.2:p.Pro833Pro/c.2499C>T,ccC/ccT,LOW,COSM1352564(3),0.229433,0.1567,rs3734073,,,,,,chr11,129785594,129785594,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro833Pro/c.2499C>T|1160|PRDM10|protein_coding|CODING|NM_020228.2|17|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro829Pro/c.2487C>T|1156|PRDM10|protein_coding|CODING|NM_199437.1|16|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro747Pro/c.2241C>T|1061|PRDM10|protein_coding|CODING|NM_199438.1|13|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro743Pro/c.2229C>T|1023|PRDM10|protein_coding|CODING|NM_199439.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3108,0.2896,0.3231,0.27,0.16,0.32,,,,,,,,,,,,,,,,
missense_variant,PRDM10,MISSENSE,NM_020228.2:p.Thr573Ala/c.1717A>G,Aca/Gca,MODERATE,,0.423522,0.3988,rs2241571,0.41(T),"0.001,0.007,0.0,0.003,0.0(B,B,B,B,B)",0.19(N),-0.9304(T),,chr11,129794950,129794950,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr573Ala/c.1717A>G|1160|PRDM10|protein_coding|CODING|NM_020228.2|13|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr569Ala/c.1705A>G|1156|PRDM10|protein_coding|CODING|NM_199437.1|12|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr487Ala/c.1459A>G|1061|PRDM10|protein_coding|CODING|NM_199438.1|9|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr483Ala/c.1447A>G|1023|PRDM10|protein_coding|CODING|NM_199439.1|8|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4284,0.3977,0.3907,0.41,0.45,0.39,,0.028802(N),1.000(P),"3.22,3.22,3.22,3.22,3.22,3.22,3.22(T,T,T,T,T,T,T)",0.0000(T),0.03,0.539222,5.71,0.816,-0.726000,-0.030000,-0.590000,0.849000,0.068000,0.003000,6.2641
synonymous_variant,PRDM10,SILENT,NM_020228.2:p.Gln466Gln/c.1398G>A,caG/caA,LOW,,0.641973,0.7758,rs2277033,,,,,,chr11,129801043,129801043,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln466Gln/c.1398G>A|1160|PRDM10|protein_coding|CODING|NM_020228.2|11|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln466Gln/c.1398G>A|1156|PRDM10|protein_coding|CODING|NM_199437.1|11|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln380Gln/c.1140G>A|1061|PRDM10|protein_coding|CODING|NM_199438.1|7|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln380Gln/c.1140G>A|1023|PRDM10|protein_coding|CODING|NM_199439.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.513,0.4294,0.56,0.81,0.43,,,,,,,,,,,,,,,,
missense_variant,ST14,MISSENSE,NM_021978.3:p.Arg381Ser/c.1141C>A,Cgc/Agc,MODERATE,,0.0319489,0,rs17667603,0.33(T),0.053(B),1.08(L),-0.9690(T),,chr11,130066261,130066261,C,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg381Ser/c.1141C>A|855|ST14|protein_coding|CODING|NM_021978.3|10|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.0133,0.0389,0.0845,0.06,0.04,0.08,,0.976043(N),0.163(P),2.3(T),0.0020(T),0.293,1.233600,4.62,1.44,0.655000,-0.001000,0.237000,0.349000,0.821000,0.021000,3.5592
synonymous_variant,ST14,SILENT,NM_021978.3:p.Asn405Asn/c.1215C>T,aaC/aaT,LOW,COSM3752239(2),0.638978,0.7103,rs476106,,,,,,chr11,130066335,130066335,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn405Asn/c.1215C>T|855|ST14|protein_coding|CODING|NM_021978.3|10|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.7853,0.7752,0.6869,0.57,0.42,0.64,,,,,,,,,,,,,,,,
missense_variant,ADAMTS8,MISSENSE,NM_007037.4:p.Ala525Val/c.1574C>T,gCa/gTa,MODERATE,COSM3752245(1),0.74401,0.8304,rs2131535,1(T),0.0(B),0(N),-0.9444(T),,chr11,130281488,130281488,G,A,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala525Val/c.1574C>T|889|ADAMTS8|protein_coding|CODING|NM_007037.4|6|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6411,0.8012,0.7694,0.74,0.71,0.75,,0.000001(N),1.000(P),0.33(T),0.0000(T),0.044,0.347222,5.87,5.87,-0.352000,1.051000,4.831000,0.705000,0.945000,0.995000,8.2543
missense_variant,ADAMTS8,MISSENSE,NM_007037.4:p.Glu78Asp/c.234G>C,gaG/gaC,MODERATE,COSM4145536(1),0.469249,0.6319,rs7927048,0.12(T),0.006(B),0.495(N),-0.9479(T),,chr11,130297948,130297948,C,G,hom,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu78Asp/c.234G>C|889|ADAMTS8|protein_coding|CODING|NM_007037.4|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.4274,0.6916,0.5825,0.39,0.19,0.48,,0.013354(N),1.000(P),3.44(T),0.0000(T),0.058,2.035530,4.16,-1.93,0.455000,-0.600000,-0.981000,0.983000,0.001000,0.000000,6.5487
synonymous_variant,ADAMTS8,SILENT,NM_007037.4:p.Leu75Leu/c.225A>G,ctA/ctG,LOW,COSM3749143(3),0.913738,0.9692,rs7942034,,,,,,chr11,130297957,130297957,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu75Leu/c.225A>G|889|ADAMTS8|protein_coding|CODING|NM_007037.4|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0.819,0.9424,0.839,0.89,0.96,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS15,SILENT,NM_139055.2:p.Asn566Asn/c.1698T>C,aaT/aaC,LOW,,0.565495,0.3552,rs731446,,,,,,chr11,130339312,130339312,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn566Asn/c.1698T>C|950|ADAMTS15|protein_coding|CODING|NM_139055.2|5|1),"HUVEC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5041,0.4207,0.6262,0.67,0.77,0.62,,,,,,,,,,,,,,,,
missense_variant,SNX19,MISSENSE,NM_014758.2:p.Leu878Arg/c.2633T>G,cTg/cGg,MODERATE,COSM4145541(1),0.8127,0.6974,rs2298566,1(T),"0.0,0.0(B,B)",-1.845(N),-0.9994(T),,chr11,130750642,130750642,A,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu258Arg/c.773T>G|372|SNX19|protein_coding|CODING|NM_001301089.1|9|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu878Arg/c.2633T>G|992|SNX19|protein_coding|CODING|NM_014758.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8589,0.7767,0.7356,0.81,0.92,0.75,,0.021289(N),1.000(P),"1.63,1.63,1.63,1.63,1.63,1.63,1.63(T,T,T,T,T,T,T)",0.0000(T),0.137,-0.588967,6.08,0.0746,-0.121000,-0.476000,-0.225000,0.941000,0.000000,0.001000,7.4378
missense_variant,SNX19,MISSENSE,NM_014758.2:p.Asn753Ser/c.2258A>G,aAt/aGt,MODERATE,COSM3998337(1),0.663139,0.6468,rs4414223,0.84(T),"0.002,0.001,0.001(B,B,B)",0.37(N),-0.9323(T),,chr11,130776524,130776524,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn133Ser/c.398A>G|372|SNX19|protein_coding|CODING|NM_001301089.1|6|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn753Ser/c.2258A>G|992|SNX19|protein_coding|CODING|NM_014758.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.8344,0.6916,0.6372,0.63,0.57,0.66,,0.965024(N),1.000(P),"0.88,0.88,0.88,0.88,0.88(T,T,T,T,T)",0.0000(T),0.015,-0.981589,5.6,0.523,0.533000,-0.154000,-0.119000,0.625000,0.001000,0.001000,6.2822
synonymous_variant,SNX19,SILENT,NM_014758.2:p.Gln742Gln/c.2226A>G,caA/caG,LOW,COSM3752246(1),0.0273562,0.001,rs61909161,,,,,,chr11,130776556,130776556,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln122Gln/c.366A>G|372|SNX19|protein_coding|CODING|NM_001301089.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln742Gln/c.2226A>G|992|SNX19|protein_coding|CODING|NM_014758.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0481,0.0375,0.0567,0.06,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,SNX19,SILENT,NM_014758.2:p.Ser723Ser/c.2169T>C,tcT/tcC,LOW,,0.663139,0.6468,rs4373936,,,,,,chr11,130776613,130776613,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser103Ser/c.309T>C|372|SNX19|protein_coding|CODING|NM_001301089.1|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser723Ser/c.2169T>C|992|SNX19|protein_coding|CODING|NM_014758.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.8344,0.6916,0.6372,0.63,0.57,0.66,,,,,,,,,,,,,,,,
synonymous_variant,SNX19,SILENT,NM_014758.2:p.Pro644Pro/c.1932G>A,ccG/ccA,LOW,COSM3998338(1),0.576877,0.6448,rs1781,,,,,,chr11,130780015,130780015,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro24Pro/c.72G>A|372|SNX19|protein_coding|CODING|NM_001301089.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro644Pro/c.1932G>A|992|SNX19|protein_coding|CODING|NM_014758.2|4|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.8333,0.6686,0.6342,0.55,0.32,0.66,,,,,,,,,,,,,,,,
missense_variant,SNX19,MISSENSE,NM_014758.2:p.Leu618Phe/c.1854G>T,ttG/ttT,MODERATE,,,,rs681982,1(T),"0.0,0.0,0.0(B,B,B)",-1.12(N),-0.9703(T),,chr11,130780225,130780225,C,A,hom,"missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu618Phe/c.1854G>T|992|SNX19|protein_coding|CODING|NM_014758.2|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||372|SNX19|protein_coding|CODING|NM_001301089.1|3|1),5_prime_UTR_variant(MODIFIER||7|c.-7G>T|372|SNX19|protein_coding|CODING|NM_001301089.1|3|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HUVEC:H3K4me1,GM06990:H3K36me3",,,,,,,,,,,0.000001(N),0.000(P),"1.6,1.6,1.6(T,T,T)",0.0000(T),0.257,0.102506,5.9,3.63,-0.256000,0.508000,1.931000,0.984000,1.000000,1.000000,6.8285
missense_variant,SNX19,MISSENSE,NM_014758.2:p.Val361Leu/c.1081G>C,Gtt/Ctt,MODERATE,COSM3998341(1),0.730431,0.6796,rs3751037,0.46(T),"0.0,0.0(B,B)",0(N),-0.9957(T),,chr11,130784754,130784754,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val361Leu/c.1081G>C|992|SNX19|protein_coding|CODING|NM_014758.2|1|1),intron_variant(MODIFIER|||c.-187+1421G>C|372|SNX19|protein_coding|CODING|NM_001301089.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8528,0.7421,0.7167,0.71,0.68,0.73,,0.691969(N),1.000(P),"2.4,2.4(T,T)",0.0000(T),0.03,-1.068771,5.23,-0.511,-1.176000,-0.275000,-0.092000,0.172000,0.004000,0.000000,1.1351
synonymous_variant,SNX19,SILENT,NM_014758.2:p.Pro288Pro/c.864G>C,ccG/ccC,LOW,COSM3998342(1),0.796925,0.6806,rs3751036,,,,,,chr11,130784971,130784971,C,G,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro288Pro/c.864G>C|992|SNX19|protein_coding|CODING|NM_014758.2|1|1),intron_variant(MODIFIER|||c.-187+1204G>C|372|SNX19|protein_coding|CODING|NM_001301089.1|1|1)","H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8538,0.7723,0.7207,0.78,0.88,0.73,,,,,,,,,,,,,,,,
synonymous_variant,NTM,SILENT,NM_001144058.1:p.Arg193Arg/c.577A>C,Agg/Cgg,LOW,,0.880591,0.9266,rs2305271,,,,,,chr11,132177633,132177633,A,C,hom,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg193Arg/c.577A>C|344|NTM|protein_coding|CODING|NM_001048209.1|5|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg193Arg/c.577A>C|355|NTM|protein_coding|CODING|NM_001144058.1|4|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg193Arg/c.577A>C|316|NTM|protein_coding|CODING|NM_001144059.1|4|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg193Arg/c.577A>C|344|NTM|protein_coding|CODING|NM_016522.2|4|1)",,,,,0.8384,0.8991,0.8211,0.85,0.91,0.83,,,,,,,,,,,,,,,,
missense_variant,NTM,MISSENSE,NM_001144058.1:p.Leu346Phe/c.1036C>T,Ctt/Ttt,MODERATE,,0.0061901,0,rs138401779,0.03(D),"0.003,0.003,0.002,0.006,0.003,0.013(B,B,B,B,B,B)",1.245(L),-0.9637(T),,chr11,132205008,132205008,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu335Phe/c.1003C>T|344|NTM|protein_coding|CODING|NM_001048209.1|8|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu346Phe/c.1036C>T|355|NTM|protein_coding|CODING|NM_001144058.1|8|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu335Phe/c.1003C>T|344|NTM|protein_coding|CODING|NM_016522.2|7|1)",H1ESC:H3K27me3,,,,0.0031,0.0086,0.0219,0.01,0.00,0.02,,0.032971(N),1.000(D),"0.18,0.21,0.17,0.21,0.2(T,T,T,T,T)",0.0757(T),0.241,1.952644,5.13,4.2,0.650000,1.134000,1.083000,0.754000,0.899000,0.981000,8.4345
missense_variant,SPATA19,MISSENSE,NM_001291992.1:p.Ala50Val/c.149C>T,gCt/gTt,MODERATE,,0.339457,0.6022,rs2282602,0.07(T),0.994(D),1.04(L),-0.8793(T),,chr11,133714522,133714522,G,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala50Val/c.149C>T|167|SPATA19|protein_coding|CODING|NM_001291992.1|3|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala50Val/c.149C>T|167|SPATA19|protein_coding|CODING|NM_174927.2|3|1)","H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3476,0.317,0.3926,0.30,0.17,0.37,,0.000029(D),0.025(P),"0.45,0.45(T,T)",0.0000(T),0.363,3.990884,5.02,5.02,0.655000,2.493000,3.306000,0.774000,1.000000,1.000000,14.1925
synonymous_variant,IGSF9B,SILENT,NM_001277285.1:p.Ser298Ser/c.894G>A,tcG/tcA,LOW,COSM428723(2),0.299121,0.3284,rs329637,,,,,,chr11,133805585,133805585,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser298Ser/c.894G>A|1437|IGSF9B|protein_coding|CODING|NM_001277285.1|7|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.32,0.33,0.4334,0.34,0.20,0.41,,,,,,,,,,,,,,,,
synonymous_variant,IGSF9B,SILENT,NM_001277285.1:p.Ile149Ile/c.447C>T,atC/atT,LOW,COSM4145546(1),0.0780751,0.001,rs329635,,,,,,chr11,133807819,133807819,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|1437|IGSF9B|protein_coding|CODING|NM_001277285.1|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1053,0.0836,0.1332,0.11,0.09,0.12,,,,,,,,,,,,,,,,
synonymous_variant,IGSF9B,SILENT,NM_001277285.1:p.Tyr111Tyr/c.333T>C,taT/taC,LOW,COSM4145547(1),0.488019,0.4028,rs595986,,,,,,chr11,133814191,133814191,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr111Tyr/c.333T>C|1437|IGSF9B|protein_coding|CODING|NM_001277285.1|3|1),"H1ESC:H3K36me3,CD4:H3K18ac,HUVEC:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,GM12878:H3K36me3,CD4:H4K20me1,K562:H3K27me3,CD4:H3K4me1,HepG2:H3K27me3",,,,0.6176,0.5389,0.7117,0.60,0.36,0.72,,,,,,,,,,,,,,,,
synonymous_variant,NCAPD3,SILENT,NM_015261.2:p.Val964Val/c.2892A>G,gtA/gtG,LOW,,0.473043,0.4137,rs2276265,,,,,,chr11,134047243,134047243,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val964Val/c.2892A>G|1498|NCAPD3|protein_coding|CODING|NM_015261.2|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.33,0.329,0.46,0.73,0.32,,,,,,,,,,,,,,,,
missense_variant,GLB1L3,MISSENSE,NM_001080407.2:p.Arg163Pro/c.488G>C,cGc/cCc,MODERATE,COSM3931273(1),0.907748,0.8135,rs472287,1(T),"0.0,0.0(B,B)",-4.625(N),-0.8449(T),,chr11,134151975,134151975,G,C,hom,missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg163Pro/c.488G>C|653|GLB1L3|protein_coding|CODING|NM_001080407.2|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8671,0.8559,0.9871,,,,,,0.998(P),"-4.07,-4.07(D,D)",0.0000(T),0.255,0.999372,4.3,4.3,-0.187000,1.179000,4.974000,0.995000,0.996000,1.000000,11.8929
missense_variant,GLB1L3,MISSENSE,NM_001080407.2:p.Val474Met/c.1420G>A,Gtg/Atg,MODERATE,COSM4145556(1),0.998403,0.996,rs2509062,0.08(T),0.001(B),0.205(N),-0.9434(T),,chr11,134182375,134182375,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val474Met/c.1420G>A|653|GLB1L3|protein_coding|CODING|NM_001080407.2|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,0.997,1.00,1.00,1.00,,0.438692(N),1.000(P),-3.12(D),0.0000(T),0.398,1.390254,4.81,-8.0,-1.126000,-1.719000,-2.064000,0.000000,0.000000,0.000000,4.7469
missense_variant,GLB1L3,MISSENSE,NM_001080407.2:p.Val532Ala/c.1595T>C,gTc/gCc,MODERATE,,0.00159744,0,rs11606923,0.03(D),0.624(P),2.635(M),0.3153(D),,chr11,134183850,134183850,T,C,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val532Ala/c.1595T>C|653|GLB1L3|protein_coding|CODING|NM_001080407.2|17|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.002,0,0.006,0.01,0.00,0.01,,0.000547(D),1.000(N),-3.24(D),0.7759(D),0.292,2.854584,4.78,4.78,0.460000,2.126000,3.145000,0.003000,0.003000,0.056000,12.2076
synonymous_variant,GLB1L3,SILENT,NM_001080407.2:p.Phe599Phe/c.1797T>C,ttT/ttC,LOW,,0.392772,0.2877,rs481252,,,,,,chr11,134188542,134188542,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe599Phe/c.1797T>C|653|GLB1L3|protein_coding|CODING|NM_001080407.2|19|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.318,0.3718,0.5328,0.53,0.46,0.56,,,,,,,,,,,,,,,,
synonymous_variant,GLB1L2,SILENT,NM_138342.3:p.Thr560Thr/c.1680C>G,acC/acG,LOW,,0.266174,0.5089,rs3741097,,,,-0.9118(T),,chr11,134244123,134244123,C,G,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr560Thr/c.1680C>G|636|GLB1L2|protein_coding|CODING|NM_138342.3|17|1),"H1ESC:H3K36me3,GM12878:H3K27me3,K562:H3K36me3,HepG2:H3K27me3",,,,0.3957,0.1527,0.2097,0.17,0.11,0.20,,,0.995(P),,0.0000(T),.,-0.096667,5.56,-2.06,-0.885000,-0.202000,0.246000,0.035000,0.013000,0.054000,0.8726
missense_variant,IQSEC3,MISSENSE,NM_001170738.1:p.Pro283Ser/c.847C>T,Ccc/Tcc,MODERATE,,0.958267,1,rs12822449,0.66(T),,-1.995(N),-0.9683(T),,chr12,235022,235022,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro283Ser/c.847C>T|1182|IQSEC3|protein_coding|CODING|NM_001170738.1|3|1),intron_variant(MODIFIER|||c.-6-12411C>T|759|IQSEC3|protein_coding|CODING|NM_015232.1|2|1)","GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9741,0.995,0.97,0.90,1.00,,0.802053(N),0.000(P),"-0.98,-0.98(T,T)",0.0000(T),0.035,-0.557742,5.17,1.45,-0.381000,-0.014000,2.039000,0.701000,0.999000,1.000000,1.7463
synonymous_variant,IQSEC3,SILENT,NM_001170738.1:p.Gly1136Gly/c.3408T>C,ggT/ggC,LOW,COSM4146982(1),0.923722,0.8502,rs216230,,,,,,chr12,284058,284058,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1136Gly/c.3408T>C|1182|IQSEC3|protein_coding|CODING|NM_001170738.1|14|1),"HMEC:H3K27me3,NHEK:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.9213,0.9481,0.9543,0.96,0.96,0.95,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A12,SILENT,NM_001122847.2:p.Thr149Thr/c.447T>C,acT/acC,LOW,COSM4146989(1),0.616014,0.6339,rs216250,,,,,,chr12,311949,311949,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr149Thr/c.447T>C|614|SLC6A12|protein_coding|CODING|NM_001122847.2|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr149Thr/c.447T>C|614|SLC6A12|protein_coding|CODING|NM_001122848.2|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr149Thr/c.447T>C|614|SLC6A12|protein_coding|CODING|NM_001206931.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr149Thr/c.447T>C|614|SLC6A12|protein_coding|CODING|NM_003044.4|6|1),upstream_gene_variant(MODIFIER||862|||LOC101929384||NON_CODING|NR_120475.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.5685,0.5908,0.4632,0.53,0.70,0.44,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A12,SILENT,NM_001122847.2:p.Ala14Ala/c.42A>G,gcA/gcG,LOW,,0.529153,0.3075,rs526690,,,,,,chr12,319111,319111,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala14Ala/c.42A>G|614|SLC6A12|protein_coding|CODING|NM_001122847.2|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala14Ala/c.42A>G|614|SLC6A12|protein_coding|CODING|NM_001122848.2|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala14Ala/c.42A>G|614|SLC6A12|protein_coding|CODING|NM_001206931.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala14Ala/c.42A>G|614|SLC6A12|protein_coding|CODING|NM_003044.4|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.5562,0.4366,0.5268,0.59,0.71,0.53,,,,,,,,,,,,,,,,
missense_variant,SLC6A12,MISSENSE,NM_001122847.2:p.Cys10Arg/c.28T>C,Tgt/Cgt,MODERATE,COSM3998764(1),0.52496,0.3145,rs557881,0.41(T),0.0(B),0(N),-0.9543(T),,chr12,319125,319125,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys10Arg/c.28T>C|614|SLC6A12|protein_coding|CODING|NM_001122847.2|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys10Arg/c.28T>C|614|SLC6A12|protein_coding|CODING|NM_001122848.2|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys10Arg/c.28T>C|614|SLC6A12|protein_coding|CODING|NM_001206931.1|2|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys10Arg/c.28T>C|614|SLC6A12|protein_coding|CODING|NM_003044.4|4|1)","GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.5573,0.4308,0.5229,0.59,0.70,0.53,,0.243826(N),1.000(P),"-0.62,-0.62,-0.62,-0.62,-0.62,-0.35,0.79(T,T,T,T,T,T,T)",0.0000(T),0.127,0.139228,5.63,2.81,-0.213000,0.339000,1.456000,0.001000,0.003000,0.079000,3.4038
synonymous_variant,KDM5A,SILENT,NM_001042603.2:p.Ser1383Ser/c.4149C>T,tcC/tcT,LOW,,0.352636,0.5109,rs2229351,,,,,,chr12,406292,406292,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1383Ser/c.4149C>T|1690|KDM5A|protein_coding|CODING|NM_001042603.2|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.3199,0.2326,0.27,0.32,0.25,,,,,,,,,,,,,,,,
missense_variant,KDM5A,MISSENSE,NM_001042603.2:p.Met865Thr/c.2594T>C,aTg/aCg,MODERATE,,0.353035,0.5109,rs11062385,0.42(T),"0.001,0.001,0.004(B,B,B)",-0.695(N),-0.9153(T),,chr12,427575,427575,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met865Thr/c.2594T>C|1690|KDM5A|protein_coding|CODING|NM_001042603.2|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.3199,0.2326,0.27,0.32,0.25,,0.001762(N),0.520(P),"1.05,1.05,1.05(T,T,T)",0.0000(T),0.237,0.477457,5.18,3.99,0.482000,0.760000,3.908000,0.997000,1.000000,1.000000,6.1802
missense_variant,B4GALNT3,MISSENSE,NM_173593.3:p.Gly59Ser/c.175G>A,Ggc/Agc,MODERATE,,0.114417,0.1389,rs2075033,0.42(T),0.003(B),0.755(N),-0.9219(T),,chr12,644337,644337,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly59Ser/c.175G>A|998|B4GALNT3|protein_coding|CODING|NM_173593.3|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.0726,0.085,0.0795,0.10,0.15,0.08,,0.487621(N),0.941(P),3.58(T),0.0000(T),0.026,-0.084803,5.47,1.01,-0.253000,0.266000,1.065000,0.100000,0.966000,0.923000,9.7844
synonymous_variant,B4GALNT3,SILENT,NM_173593.3:p.Leu453Leu/c.1359T>C,ctT/ctC,LOW,COSM3753450(2),0.847244,0.8958,rs758790,,,,,,chr12,662448,662448,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu453Leu/c.1359T>C|998|B4GALNT3|protein_coding|CODING|NM_173593.3|14|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,CD4:H4K91ac,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8957,0.7968,0.659,0.73,0.91,0.65,,,,,,,,,,,,,,,,
missense_variant,B4GALNT3,MISSENSE,NM_173593.3:p.Ala967Val/c.2900C>T,gCg/gTg,MODERATE,,0.00539137,0,rs149363012,0.03(D),0.983(D),2.33(M),-0.6131(T),,chr12,670520,670520,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala967Val/c.2900C>T|998|B4GALNT3|protein_coding|CODING|NM_173593.3|20|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,NH-A:H3K27me3,HSMM:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0,0.0101,0.0199,0.02,0.00,0.02,,0.000090(D),0.993(D),1.12(T),0.1572(T),0.274,3.225981,4.89,4.89,0.491000,2.251000,2.359000,0.112000,0.968000,0.968000,18.0398
synonymous_variant,WNK1,SILENT,NM_001184985.1:p.Cys86Cys/c.258T>C,tgT/tgC,LOW,,0.975639,1,rs3168640,,,,,,chr12,862989,862989,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys86Cys/c.258T>C|2642|WNK1|protein_coding|CODING|NM_001184985.1|1|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys86Cys/c.258T>C|2134|WNK1|protein_coding|CODING|NM_014823.2|1|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys86Cys/c.258T>C|2382|WNK1|protein_coding|CODING|NM_018979.3|1|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys86Cys/c.258T>C|2634|WNK1|protein_coding|CODING|NM_213655.4|1|1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,0.9914,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,WNK1,MISSENSE,NM_001184985.1:p.Ala141Thr/c.421G>A,Gcc/Acc,MODERATE,COSM3753517(1),0.0744808,0.0665,rs11554421,0.09(T),"0.011,0.005,0.011(B,B,B)",1.5(L),-0.9904(T),,chr12,863152,863152,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala141Thr/c.421G>A|2642|WNK1|protein_coding|CODING|NM_001184985.1|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala141Thr/c.421G>A|2134|WNK1|protein_coding|CODING|NM_014823.2|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala141Thr/c.421G>A|2382|WNK1|protein_coding|CODING|NM_018979.3|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala141Thr/c.421G>A|2634|WNK1|protein_coding|CODING|NM_213655.4|1|1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,GM12878:EBF,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1166,0.0533,0.1322,0.08,0.03,0.11,,0.000516(D),0.994(P),"-0.48,-0.45,-0.45,-0.59,-0.46(T,T,T,T,T)",0.0032(T),0.333,1.639840,4.35,4.35,0.561000,2.264000,2.054000,0.448000,0.079000,0.770000,6.9599
synonymous_variant,WNK1,SILENT,NM_001184985.1:p.Ala429Ala/c.1287A>G,gcA/gcG,LOW,COSM3753538(1),0.69349,0.871,rs10774466,,,,,,chr12,939302,939302,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala429Ala/c.1287A>G|2642|WNK1|protein_coding|CODING|NM_001184985.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala429Ala/c.1287A>G|2134|WNK1|protein_coding|CODING|NM_014823.2|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala429Ala/c.1287A>G|2382|WNK1|protein_coding|CODING|NM_018979.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala429Ala/c.1287A>G|2634|WNK1|protein_coding|CODING|NM_213655.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.7594,0.7406,0.69,0.56,0.75,,,,,,,,,,,,,,,,
synonymous_variant,WNK1,SILENT,NM_001184985.1:p.Asp493Asp/c.1479T>C,gaT/gaC,LOW,COSM3753547(2),0.0934505,0.0675,rs2286006,,,,,,chr12,968489,968489,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp493Asp/c.1479T>C|2642|WNK1|protein_coding|CODING|NM_001184985.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp493Asp/c.1479T>C|2134|WNK1|protein_coding|CODING|NM_014823.2|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp493Asp/c.1479T>C|2382|WNK1|protein_coding|CODING|NM_018979.3|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp493Asp/c.1479T>C|2634|WNK1|protein_coding|CODING|NM_213655.4|6|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0692,0.171,0.12,0.05,0.15,,,,,,,,,,,,,,,,
synonymous_variant,WNK1,SILENT,NM_213655.4:p.Pro756Pro/c.2268T>C,ccT/ccC,LOW,,0.653954,0.629,rs7300829,,,,,,chr12,974404,974404,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro756Pro/c.2268T>C|2634|WNK1|protein_coding|CODING|NM_213655.4|9|1),intron_variant(MODIFIER|||c.2140-2628T>C|2642|WNK1|protein_coding|CODING|NM_001184985.1|8|1),intron_variant(MODIFIER|||c.2139+2968T>C|2134|WNK1|protein_coding|CODING|NM_014823.2|8|1),intron_variant(MODIFIER|||c.2139+2968T>C|2382|WNK1|protein_coding|CODING|NM_018979.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.635,0.6282,0.5865,,,,,,,,,,,,,,,,,,,
synonymous_variant,WNK1,SILENT,NM_001184985.1:p.Gln1189Gln/c.3567G>A,caG/caA,LOW,COSM3753549(1),0.679513,0.8284,rs1012729,,,,-1.0370(T),,chr12,987482,987482,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1189Gln/c.3567G>A|2642|WNK1|protein_coding|CODING|NM_001184985.1|11|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln776Gln/c.2328G>A|2382|WNK1|protein_coding|CODING|NM_018979.3|10|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1274Gln/c.3822G>A|2634|WNK1|protein_coding|CODING|NM_213655.4|12|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln775Gln/c.2325G>A|2134|WNK1|protein_coding|CODING|NM_014823.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.7493,0.7336,0.68,0.56,0.74,,,0.038(P),,0.0000(T),.,-0.283891,5.99,-3.21,-1.632000,-0.958000,-0.868000,0.439000,0.070000,0.293000,14.975
synonymous_variant,WNK1,SILENT,NM_018979.3:p.Gln843Gln/c.2529G>A,caG/caA,LOW,COSM147388(3),0.145767,0.1091,rs9804992,,,,,,chr12,988894,988894,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln843Gln/c.2529G>A|2382|WNK1|protein_coding|CODING|NM_018979.3|11|1),intron_variant(MODIFIER|||c.3613-993G>A|2642|WNK1|protein_coding|CODING|NM_001184985.1|11|1),intron_variant(MODIFIER|||c.2370+1367G>A|2134|WNK1|protein_coding|CODING|NM_014823.2|10|1),intron_variant(MODIFIER|||c.3867+1367G>A|2634|WNK1|protein_coding|CODING|NM_213655.4|12|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1871,0.2003,0.1382,0.15,0.13,0.16,,,,,,,,,,,,,,,,
missense_variant,WNK1,MISSENSE,NM_001184985.1:p.Thr1316Pro/c.3946A>C,Acc/Ccc,MODERATE,,0.852835,0.8175,rs956868,,,-0.805(N),-1.0045(T),,chr12,990912,990912,A,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr1316Pro/c.3946A>C|2642|WNK1|protein_coding|CODING|NM_001184985.1|13|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr809Pro/c.2425A>C|2134|WNK1|protein_coding|CODING|NM_014823.2|11|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr1056Pro/c.3166A>C|2382|WNK1|protein_coding|CODING|NM_018979.3|13|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr1308Pro/c.3922A>C|2634|WNK1|protein_coding|CODING|NM_213655.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8753,0.8732,0.839,0.85,0.86,0.85,,,0.000(P),,0.0000(T),.,-0.690381,5.86,0.635,-0.127000,-0.088000,0.010000,0.162000,0.980000,0.990000,1.8534
synonymous_variant,WNK1,SILENT,NM_001184985.1:p.Thr1608Thr/c.4824C>T,acC/acT,LOW,COSM3998995(1),0.115815,0.1825,rs10849577,,,,,,chr12,994014,994014,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr1608Thr/c.4824C>T|2642|WNK1|protein_coding|CODING|NM_001184985.1|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1101Thr/c.3303C>T|2134|WNK1|protein_coding|CODING|NM_014823.2|17|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1348Thr/c.4044C>T|2382|WNK1|protein_coding|CODING|NM_018979.3|19|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr1600Thr/c.4800C>T|2634|WNK1|protein_coding|CODING|NM_213655.4|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1237,0.1052,0.1531,0.11,0.05,0.14,,,,,,,,,,,,,,,,
missense_variant,WNK1,MISSENSE,NM_001184985.1:p.Cys1766Ser/c.5297G>C,tGc/tCc,MODERATE,,0.986821,1,rs7955371,0.89(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-0.9535(T),,chr12,994487,994487,G,C,hom,"missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys1766Ser/c.5297G>C|2642|WNK1|protein_coding|CODING|NM_001184985.1|19|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys1259Ser/c.3776G>C|2134|WNK1|protein_coding|CODING|NM_014823.2|17|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys1506Ser/c.4517G>C|2382|WNK1|protein_coding|CODING|NM_018979.3|19|1),missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys1758Ser/c.5273G>C|2634|WNK1|protein_coding|CODING|NM_213655.4|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.96,1.00,,0.008001(N),1.000(P),"-0.2,-0.16,-0.17,-0.18,0.99(T,T,T,T,T)",0.0000(T),0.042,-1.946072,5.3,5.3,-0.120000,1.377000,0.153000,0.186000,0.426000,0.000000,9.3827
missense_variant,WNK1,MISSENSE,NM_001184985.1:p.Met2068Ile/c.6204G>T,atG/atT,MODERATE,COSM3753555(2),0.417532,0.2808,rs12828016,0.44(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9248(T),,chr12,998365,998365,G,T,het,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met2068Ile/c.6204G>T|2642|WNK1|protein_coding|CODING|NM_001184985.1|21|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met1561Ile/c.4683G>T|2134|WNK1|protein_coding|CODING|NM_014823.2|19|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met1808Ile/c.5424G>T|2382|WNK1|protein_coding|CODING|NM_018979.3|21|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met2060Ile/c.6180G>T|2634|WNK1|protein_coding|CODING|NM_213655.4|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4755,0.3213,0.3877,0.43,0.51,0.39,,0.005003(N),0.000(P),"1.71,1.71,1.71,1.71,1.71(T,T,T,T,T)",0.0000(T),0.035,1.272499,5.77,2.16,-0.256000,0.183000,-0.071000,0.446000,0.163000,0.822000,2.5504
synonymous_variant,WNK1,SILENT,NM_001184985.1:p.Tyr2536Tyr/c.7608C>T,taC/taT,LOW,COSM4146468(1),0.987021,1,rs386595250,,,,,,chr12,1017197,1017197,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2536Tyr/c.7608C>T|2642|WNK1|protein_coding|CODING|NM_001184985.1|27|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2028Tyr/c.6084C>T|2134|WNK1|protein_coding|CODING|NM_014823.2|25|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2276Tyr/c.6828C>T|2382|WNK1|protein_coding|CODING|NM_018979.3|27|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2528Tyr/c.7584C>T|2634|WNK1|protein_coding|CODING|NM_213655.4|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,RAD52,MISSENSE,NM_001297420.1:p.Gly180Arg/c.538G>A,Gga/Aga,MODERATE,,0.0121805,0.001,rs7487683,0.31(T),0.136(B),,-1.0546(T),,chr12,1036042,1036042,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly180Arg/c.538G>A|226|RAD52|protein_coding|CODING|NM_001297420.1|6|1),intron_variant(MODIFIER|||c.467+269G>A|418|RAD52|protein_coding|CODING|NM_001297419.1|6|1),intron_variant(MODIFIER|||c.236+269G>A|341|RAD52|protein_coding|CODING|NM_001297421.1|4|1),intron_variant(MODIFIER|||c.467+269G>A|301|RAD52|protein_coding|CODING|NM_001297422.1|6|1),intron_variant(MODIFIER|||c.467+269G>A|418|RAD52|protein_coding|CODING|NM_134424.3|6|1),non_coding_exon_variant(MODIFIER|||n.808G>A||RAD52||CODING|NR_123713.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0303,0.0378,0.02,0.01,0.03,,,1.000(N),0.85(T),0.0143(T),0.117,0.008023,1.4,-2.62,0.462000,-0.835000,0.313000,0.001000,0.000000,0.000000,6.8386
missense_variant,ERC1,MISSENSE,NM_001301248.1:p.Pro1073Leu/c.3218C>T,cCg/cTg,MODERATE,,0.289736,0.1895,rs11613546,0(D),,,-0.9413(T),,chr12,1590013,1590013,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1073Leu/c.3218C>T|1086|ERC1|protein_coding|CODING|NM_001301248.1|18|1),intron_variant(MODIFIER|||c.3130-9246C>T|1088|ERC1|protein_coding|CODING|NM_178039.3|17|1),intron_variant(MODIFIER|||c.3214-9246C>T|1116|ERC1|protein_coding|CODING|NM_178040.3|18|1),intron_variant(MODIFIER|||n.3511-9246C>T||ERC1||CODING|NR_027946.2|18|1),intron_variant(MODIFIER|||n.3643-9246C>T||ERC1||CODING|NR_027948.2|19|1),intron_variant(MODIFIER|||n.2662-9246C>T||ERC1||CODING|NR_027949.2|15|1)","HUVEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2935,0.2219,0.33,,,,,,1.000(P),1.98(T),0.0000(T),0.019,0.005124,2.85,-1.92,0.655000,-0.455000,-1.028000,0.011000,0.000000,0.000000,7.737
synonymous_variant,CACNA2D4,SILENT,NM_172364.4:p.Ala839Ala/c.2517G>A,gcG/gcA,LOW,,0.127196,0.0238,rs33972365,,,,,,chr12,1949939,1949939,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala839Ala/c.2517G>A|1137|CACNA2D4|protein_coding|CODING|NM_172364.4|26|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,RCV000087003.1,,0.1053,0.0706,0.1163,0.14,0.23,0.10,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D4,SILENT,NM_172364.4:p.Pro622Pro/c.1866G>A,ccG/ccA,LOW,COSM147391(1),0.0950479,0.0357,rs386611640,,,,,,chr12,1983782,1983782,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro622Pro/c.1866G>A|1137|CACNA2D4|protein_coding|CODING|NM_172364.4|18|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1247,0.0461,0.1034,0.11,0.13,0.09,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D4,SILENT,NM_172364.4:p.Ser533Ser/c.1599A>G,tcA/tcG,LOW,COSM147392(1),0.152356,0.0357,rs7966806,,,,,,chr12,1988167,1988167,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser533Ser/c.1599A>G|1137|CACNA2D4|protein_coding|CODING|NM_172364.4|15|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.0663,0.1083,0.16,0.29,0.10,,,,,,,,,,,,,,,,
synonymous_variant,CACNA2D4,SILENT,NM_172364.4:p.Thr505Thr/c.1515A>G,acA/acG,LOW,COSM1128623(2),0.23123,0.0427,rs60945277,,,,,,chr12,1989018,1989018,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr505Thr/c.1515A>G|1137|CACNA2D4|protein_coding|CODING|NM_172364.4|14|1),"GM12878:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.184,0.0922,0.1183,0.22,0.46,0.11,,,,,,,,,,,,,,,,
missense_variant,CACNA2D4,MISSENSE,NM_172364.4:p.Ile327Val/c.979A>G,Att/Gtt,MODERATE,COSM4146941(1),0.937101,0.999,rs10735005,1(T),0.0(B),-1.895(N),-0.9568(T),,chr12,1995403,1995403,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile327Val/c.979A>G|1137|CACNA2D4|protein_coding|CODING|NM_172364.4|8|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9213,0.8847,0.8509,0.92,0.98,0.89,,0.000000(N),0.000(P),3.23(T),0.0000(T),0.067,0.690116,5.17,5.17,-0.119000,1.201000,3.136000,0.949000,0.889000,1.000000,13.9332
synonymous_variant,CACNA2D4,SILENT,NM_172364.4:p.Leu79Leu/c.237A>G,ctA/ctG,LOW,,0.0439297,0.002,rs73038195,,,,,,chr12,2024092,2024092,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu79Leu/c.237A>G|1137|CACNA2D4|protein_coding|CODING|NM_172364.4|2|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0787,0.036,0.1054,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1C,SILENT,NM_199460.3:p.Thr1835Thr/c.5505G>A,acG/acA,LOW,COSM3753150(2),0.526358,0.6062,rs1051375,,,,,,chr12,2788879,2788879,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2138|CACNA1C|protein_coding|CODING|NM_000719.6|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1835Thr/c.5505G>A|2186|CACNA1C|protein_coding|CODING|NM_001129827.1|44|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1828Thr/c.5484G>A|2179|CACNA1C|protein_coding|CODING|NM_001129829.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2173|CACNA1C|protein_coding|CODING|NM_001129830.2|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1815Thr/c.5445G>A|2166|CACNA1C|protein_coding|CODING|NM_001129831.1|43|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1807Thr/c.5421G>A|2158|CACNA1C|protein_coding|CODING|NM_001129832.1|43|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1806Thr/c.5418G>A|2157|CACNA1C|protein_coding|CODING|NM_001129833.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1806Thr/c.5418G>A|2157|CACNA1C|protein_coding|CODING|NM_001129834.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1806Thr/c.5418G>A|2157|CACNA1C|protein_coding|CODING|NM_001129835.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1804Thr/c.5412G>A|2155|CACNA1C|protein_coding|CODING|NM_001129836.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1795Thr/c.5385G>A|2146|CACNA1C|protein_coding|CODING|NM_001129837.1|41|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1795Thr/c.5385G>A|2146|CACNA1C|protein_coding|CODING|NM_001129838.1|41|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1793Thr/c.5379G>A|2144|CACNA1C|protein_coding|CODING|NM_001129839.1|41|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2138|CACNA1C|protein_coding|CODING|NM_001129840.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2138|CACNA1C|protein_coding|CODING|NM_001129841.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2138|CACNA1C|protein_coding|CODING|NM_001129842.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2138|CACNA1C|protein_coding|CODING|NM_001129843.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1784Thr/c.5352G>A|2135|CACNA1C|protein_coding|CODING|NM_001129844.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1776Thr/c.5328G>A|2127|CACNA1C|protein_coding|CODING|NM_001129846.1|41|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2138|CACNA1C|protein_coding|CODING|NM_001167623.1|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1787Thr/c.5361G>A|2173|CACNA1C|protein_coding|CODING|NM_001167624.2|42|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1776Thr/c.5328G>A|2198|CACNA1C|protein_coding|CODING|NM_001167625.1|41|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1835Thr/c.5505G>A|2221|CACNA1C|protein_coding|CODING|NM_199460.3|44|1),intron_variant(MODIFIER|||n.334-1816C>T||CACNA1C-AS1||NON_CODING|NR_045725.1|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000079298.1|RCV000124096.1,,0.6503,0.6542,0.7038,0.58,0.28,0.73,,,,,,,,,,,,,,,,
missense_variant,CACNA1C,MISSENSE,NM_199460.3:p.Pro1868Leu/c.5603C>T,cCg/cTg,MODERATE,COSM1582947(2),0.669129,0.5744,rs10848683,0.22(T),"0.0,0.0,0.0(B,B,B)",1.87(L),-0.9453(T),,chr12,2791130,2791130,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1820Leu/c.5459C>T|2173|CACNA1C|protein_coding|CODING|NM_001129830.2|43|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1820Leu/c.5459C>T|2173|CACNA1C|protein_coding|CODING|NM_001167624.2|43|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1868Leu/c.5603C>T|2221|CACNA1C|protein_coding|CODING|NM_199460.3|45|1),intron_variant(MODIFIER|||n.334-4067G>A||CACNA1C-AS1||NON_CODING|NR_045725.1|3|1),intron_variant(MODIFIER|||c.5445-586C>T|2138|CACNA1C|protein_coding|CODING|NM_000719.6|42|1),intron_variant(MODIFIER|||c.5589-586C>T|2186|CACNA1C|protein_coding|CODING|NM_001129827.1|44|1),intron_variant(MODIFIER|||c.5568-586C>T|2179|CACNA1C|protein_coding|CODING|NM_001129829.1|42|1),intron_variant(MODIFIER|||c.5529-586C>T|2166|CACNA1C|protein_coding|CODING|NM_001129831.1|43|1),intron_variant(MODIFIER|||c.5505-586C>T|2158|CACNA1C|protein_coding|CODING|NM_001129832.1|43|1),intron_variant(MODIFIER|||c.5502-586C>T|2157|CACNA1C|protein_coding|CODING|NM_001129833.1|42|1),intron_variant(MODIFIER|||c.5502-586C>T|2157|CACNA1C|protein_coding|CODING|NM_001129834.1|42|1),intron_variant(MODIFIER|||c.5502-586C>T|2157|CACNA1C|protein_coding|CODING|NM_001129835.1|42|1),intron_variant(MODIFIER|||c.5496-586C>T|2155|CACNA1C|protein_coding|CODING|NM_001129836.1|42|1),intron_variant(MODIFIER|||c.5469-586C>T|2146|CACNA1C|protein_coding|CODING|NM_001129837.1|41|1),intron_variant(MODIFIER|||c.5469-586C>T|2146|CACNA1C|protein_coding|CODING|NM_001129838.1|41|1),intron_variant(MODIFIER|||c.5463-586C>T|2144|CACNA1C|protein_coding|CODING|NM_001129839.1|41|1),intron_variant(MODIFIER|||c.5445-586C>T|2138|CACNA1C|protein_coding|CODING|NM_001129840.1|42|1),intron_variant(MODIFIER|||c.5445-586C>T|2138|CACNA1C|protein_coding|CODING|NM_001129841.1|42|1),intron_variant(MODIFIER|||c.5445-586C>T|2138|CACNA1C|protein_coding|CODING|NM_001129842.1|42|1),intron_variant(MODIFIER|||c.5445-586C>T|2138|CACNA1C|protein_coding|CODING|NM_001129843.1|42|1),intron_variant(MODIFIER|||c.5436-586C>T|2135|CACNA1C|protein_coding|CODING|NM_001129844.1|42|1),intron_variant(MODIFIER|||c.5412-586C>T|2127|CACNA1C|protein_coding|CODING|NM_001129846.1|41|1),intron_variant(MODIFIER|||c.5445-586C>T|2138|CACNA1C|protein_coding|CODING|NM_001167623.1|42|1),intron_variant(MODIFIER|||c.5625-586C>T|2198|CACNA1C|protein_coding|CODING|NM_001167625.1|42|1)","GM06990:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.8528,0.7248,0.8191,0.72,0.50,0.82,,,1.000(P),"-3.54,-3.64(D,D)",0.0000(T),0.042,0.376619,2.85,1.64,-0.352000,0.051000,-1.323000,0.004000,0.007000,0.000000,2.4217
missense_variant,CACNA1C,MISSENSE,NM_199460.3:p.Met1869Val/c.5605A>G,Atg/Gtg,MODERATE,COSM3998754(1),0.770567,0.6081,rs10774053,1(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-0.9706(T),,chr12,2791132,2791132,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1821Val/c.5461A>G|2173|CACNA1C|protein_coding|CODING|NM_001129830.2|43|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1821Val/c.5461A>G|2173|CACNA1C|protein_coding|CODING|NM_001167624.2|43|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1869Val/c.5605A>G|2221|CACNA1C|protein_coding|CODING|NM_199460.3|45|1),intron_variant(MODIFIER|||n.334-4069T>C||CACNA1C-AS1||NON_CODING|NR_045725.1|3|1),intron_variant(MODIFIER|||c.5445-584A>G|2138|CACNA1C|protein_coding|CODING|NM_000719.6|42|1),intron_variant(MODIFIER|||c.5589-584A>G|2186|CACNA1C|protein_coding|CODING|NM_001129827.1|44|1),intron_variant(MODIFIER|||c.5568-584A>G|2179|CACNA1C|protein_coding|CODING|NM_001129829.1|42|1),intron_variant(MODIFIER|||c.5529-584A>G|2166|CACNA1C|protein_coding|CODING|NM_001129831.1|43|1),intron_variant(MODIFIER|||c.5505-584A>G|2158|CACNA1C|protein_coding|CODING|NM_001129832.1|43|1),intron_variant(MODIFIER|||c.5502-584A>G|2157|CACNA1C|protein_coding|CODING|NM_001129833.1|42|1),intron_variant(MODIFIER|||c.5502-584A>G|2157|CACNA1C|protein_coding|CODING|NM_001129834.1|42|1),intron_variant(MODIFIER|||c.5502-584A>G|2157|CACNA1C|protein_coding|CODING|NM_001129835.1|42|1),intron_variant(MODIFIER|||c.5496-584A>G|2155|CACNA1C|protein_coding|CODING|NM_001129836.1|42|1),intron_variant(MODIFIER|||c.5469-584A>G|2146|CACNA1C|protein_coding|CODING|NM_001129837.1|41|1),intron_variant(MODIFIER|||c.5469-584A>G|2146|CACNA1C|protein_coding|CODING|NM_001129838.1|41|1),intron_variant(MODIFIER|||c.5463-584A>G|2144|CACNA1C|protein_coding|CODING|NM_001129839.1|41|1),intron_variant(MODIFIER|||c.5445-584A>G|2138|CACNA1C|protein_coding|CODING|NM_001129840.1|42|1),intron_variant(MODIFIER|||c.5445-584A>G|2138|CACNA1C|protein_coding|CODING|NM_001129841.1|42|1),intron_variant(MODIFIER|||c.5445-584A>G|2138|CACNA1C|protein_coding|CODING|NM_001129842.1|42|1),intron_variant(MODIFIER|||c.5445-584A>G|2138|CACNA1C|protein_coding|CODING|NM_001129843.1|42|1),intron_variant(MODIFIER|||c.5436-584A>G|2135|CACNA1C|protein_coding|CODING|NM_001129844.1|42|1),intron_variant(MODIFIER|||c.5412-584A>G|2127|CACNA1C|protein_coding|CODING|NM_001129846.1|41|1),intron_variant(MODIFIER|||c.5445-584A>G|2138|CACNA1C|protein_coding|CODING|NM_001167623.1|42|1),intron_variant(MODIFIER|||c.5625-584A>G|2198|CACNA1C|protein_coding|CODING|NM_001167625.1|42|1)","GM06990:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.862,0.7651,0.83,0.82,0.79,0.83,,,1.000(P),"-3.57,-3.67(D,D)",0.0000(T),0.01,-0.828983,2.99,0.908,-0.962000,-0.044000,-0.383000,0.000000,0.000000,0.000000,5.4803
missense_variant,CACNA1C,MISSENSE,NM_199460.3:p.Lys1893Arg/c.5678A>G,aAa/aGa,MODERATE,,1,1,rs10774054,0.88(T),"0.0,0.0,0.0(B,B,B)",1.445(L),-0.8799(T),,chr12,2791205,2791205,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1845Arg/c.5534A>G|2173|CACNA1C|protein_coding|CODING|NM_001129830.2|43|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1845Arg/c.5534A>G|2173|CACNA1C|protein_coding|CODING|NM_001167624.2|43|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1893Arg/c.5678A>G|2221|CACNA1C|protein_coding|CODING|NM_199460.3|45|1),intron_variant(MODIFIER|||n.334-4142T>C||CACNA1C-AS1||NON_CODING|NR_045725.1|3|1),intron_variant(MODIFIER|||c.5445-511A>G|2138|CACNA1C|protein_coding|CODING|NM_000719.6|42|1),intron_variant(MODIFIER|||c.5589-511A>G|2186|CACNA1C|protein_coding|CODING|NM_001129827.1|44|1),intron_variant(MODIFIER|||c.5568-511A>G|2179|CACNA1C|protein_coding|CODING|NM_001129829.1|42|1),intron_variant(MODIFIER|||c.5529-511A>G|2166|CACNA1C|protein_coding|CODING|NM_001129831.1|43|1),intron_variant(MODIFIER|||c.5505-511A>G|2158|CACNA1C|protein_coding|CODING|NM_001129832.1|43|1),intron_variant(MODIFIER|||c.5502-511A>G|2157|CACNA1C|protein_coding|CODING|NM_001129833.1|42|1),intron_variant(MODIFIER|||c.5502-511A>G|2157|CACNA1C|protein_coding|CODING|NM_001129834.1|42|1),intron_variant(MODIFIER|||c.5502-511A>G|2157|CACNA1C|protein_coding|CODING|NM_001129835.1|42|1),intron_variant(MODIFIER|||c.5496-511A>G|2155|CACNA1C|protein_coding|CODING|NM_001129836.1|42|1),intron_variant(MODIFIER|||c.5469-511A>G|2146|CACNA1C|protein_coding|CODING|NM_001129837.1|41|1),intron_variant(MODIFIER|||c.5469-511A>G|2146|CACNA1C|protein_coding|CODING|NM_001129838.1|41|1),intron_variant(MODIFIER|||c.5463-511A>G|2144|CACNA1C|protein_coding|CODING|NM_001129839.1|41|1),intron_variant(MODIFIER|||c.5445-511A>G|2138|CACNA1C|protein_coding|CODING|NM_001129840.1|42|1),intron_variant(MODIFIER|||c.5445-511A>G|2138|CACNA1C|protein_coding|CODING|NM_001129841.1|42|1),intron_variant(MODIFIER|||c.5445-511A>G|2138|CACNA1C|protein_coding|CODING|NM_001129842.1|42|1),intron_variant(MODIFIER|||c.5445-511A>G|2138|CACNA1C|protein_coding|CODING|NM_001129843.1|42|1),intron_variant(MODIFIER|||c.5436-511A>G|2135|CACNA1C|protein_coding|CODING|NM_001129844.1|42|1),intron_variant(MODIFIER|||c.5412-511A>G|2127|CACNA1C|protein_coding|CODING|NM_001129846.1|41|1),intron_variant(MODIFIER|||c.5445-511A>G|2138|CACNA1C|protein_coding|CODING|NM_001167623.1|42|1),intron_variant(MODIFIER|||c.5625-511A>G|2198|CACNA1C|protein_coding|CODING|NM_001167625.1|42|1)","GM06990:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,,1.000(P),"-3.76,-3.86(D,D)",0.0000(T),0.009,-1.686620,2.69,-1.63,-1.110000,-0.785000,0.066000,0.000000,0.000000,0.000000,0.989
synonymous_variant,FOXM1,SILENT,NM_202002.2:p.Arg584Arg/c.1752A>G,agA/agG,LOW,,0.997204,1,rs2215292,,,,,,chr12,2968458,2968458,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg531Arg/c.1593A>G|748|FOXM1|protein_coding|CODING|NM_001243088.1|8|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg530Arg/c.1590A>G|747|FOXM1|protein_coding|CODING|NM_001243089.1|8|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg546Arg/c.1638A>G|763|FOXM1|protein_coding|CODING|NM_021953.3|9|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg584Arg/c.1752A>G|801|FOXM1|protein_coding|CODING|NM_202002.2|10|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg531Arg/c.1593A>G|748|FOXM1|protein_coding|CODING|NM_202003.2|8|1),intron_variant(MODIFIER|||n.616-242T>C||LOC100507424||NON_CODING|NR_038933.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9928,0.992,0.99,1.00,0.98,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN9,SILENT,NM_001168320.1:p.Ile58Ile/c.174T>C,atT/atC,LOW,COSM3753197(1),0.172724,0.1022,rs16930370,,,,,,chr12,3387697,3387697,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile58Ile/c.174T>C|239|TSPAN9|protein_coding|CODING|NM_001168320.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile58Ile/c.174T>C|239|TSPAN9|protein_coding|CODING|NM_006675.4|4|1)","GM06990:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1053,0.1571,0.1839,0.21,0.28,0.18,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN9,SILENT,NM_001168320.1:p.Thr128Thr/c.384C>T,acC/acT,LOW,,0.0423323,0,rs66501720,,,,,,chr12,3389601,3389601,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr128Thr/c.384C>T|239|TSPAN9|protein_coding|CODING|NM_001168320.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr128Thr/c.384C>T|239|TSPAN9|protein_coding|CODING|NM_006675.4|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0583,0.0562,0.1093,0.07,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,CRACR2A,MISSENSE,NM_001144958.1:p.His212Gln/c.636T>A,caT/caA,MODERATE,COSM3753199(1),0.170727,0.127,rs36030417,0.59(T),"0.085,0.578,0.601(B,P,P)",1.895(L),-1.0974(T),,chr12,3782647,3782647,A,T,het,"missense_variant(MODERATE|MISSENSE|caT/caA|p.His212Gln/c.636T>A|731|CRACR2A|protein_coding|CODING|NM_001144958.1|7|1),missense_variant(MODERATE|MISSENSE|caT/caA|p.His212Gln/c.636T>A|395|CRACR2A|protein_coding|CODING|NM_032680.3|7|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2689,0.2363,0.1471,0.14,0.12,0.14,,0.000976(D),0.995(P),"2.05,2.7,2.68(T,T,T)",0.0000(T),0.153,1.511825,4.55,-8.51,-1.844000,-2.641000,-3.808000,0.545000,0.217000,0.000000,9.6521
synonymous_variant,CRACR2A,SILENT,NM_001144958.1:p.Leu194Leu/c.582G>A,ctG/ctA,LOW,COSM3753203(1),0.171326,0.127,rs17697920,,,,,,chr12,3782701,3782701,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu194Leu/c.582G>A|731|CRACR2A|protein_coding|CODING|NM_001144958.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu194Leu/c.582G>A|395|CRACR2A|protein_coding|CODING|NM_032680.3|7|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2689,0.2363,0.1471,0.14,0.13,0.14,,,,,,,,,,,,,,,,
missense_variant,CRACR2A,MISSENSE,NM_001144958.1:p.Glu154Lys/c.460G>A,Gaa/Aaa,MODERATE,COSM3753207(2),0.222444,0.1319,rs242018,0.25(T),"0.003,0.003,0.001(B,B,B)",2.215(M),-1.0462(T),,chr12,3788145,3788145,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu154Lys/c.460G>A|731|CRACR2A|protein_coding|CODING|NM_001144958.1|6|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu154Lys/c.460G>A|395|CRACR2A|protein_coding|CODING|NM_032680.3|6|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.2689,0.33,0.2565,0.25,0.19,0.28,,0.172133(N),1.000(P),"-0.01,2.41,2.39(T,T,T)",0.0000(T),0.074,0.383782,4.9,1.51,0.561000,-0.025000,1.008000,0.006000,0.000000,0.005000,4.976
synonymous_variant,CRACR2A,SILENT,NM_001144958.1:p.Lys139Lys/c.417G>A,aaG/aaA,LOW,COSM4147014(1),0.154952,0.128,rs3803135,,,,,,chr12,3788188,3788188,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys139Lys/c.417G>A|731|CRACR2A|protein_coding|CODING|NM_001144958.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys139Lys/c.417G>A|395|CRACR2A|protein_coding|CODING|NM_032680.3|6|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.2076,0.2262,0.1113,0.12,0.13,0.11,,,,,,,,,,,,,,,,
missense_variant,CRACR2A,MISSENSE,NM_001144958.1:p.Ala128Val/c.383C>T,gCa/gTa,MODERATE,COSM3753210(1),0.226637,0.1319,rs242017,0.52(T),"0.036,0.167,0.081(B,B,B)",2.175(M),-1.0291(T),,chr12,3788222,3788222,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala128Val/c.383C>T|731|CRACR2A|protein_coding|CODING|NM_001144958.1|6|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala128Val/c.383C>T|395|CRACR2A|protein_coding|CODING|NM_032680.3|6|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.272,0.3372,0.2644,0.25,0.19,0.28,,0.605064(N),1.000(P),"-0.01,2.43,2.46(T,T,T)",0.0000(T),0.088,1.130430,4.18,0.878,0.561000,0.291000,0.131000,0.682000,0.002000,0.000000,6.8838
synonymous_variant,CRACR2A,SILENT,NM_001144958.1:p.His115His/c.345C>T,caC/caT,LOW,COSM3753213(1),0.0716853,0.004,rs242016,,,,,,chr12,3788260,3788260,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His115His/c.345C>T|731|CRACR2A|protein_coding|CODING|NM_001144958.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His115His/c.345C>T|395|CRACR2A|protein_coding|CODING|NM_032680.3|6|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.0644,0.111,0.1531,0.13,0.06,0.17,,,,,,,,,,,,,,,,
missense_variant,CRACR2A,MISSENSE,NM_001144958.1:p.Ala98Thr/c.292G>A,Gct/Act,MODERATE,,0.155351,0.128,rs17836273,0.6(T),"0.078,0.027,0.077(B,B,B)",0.88(L),-1.0916(T),,chr12,3789452,3789452,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala98Thr/c.292G>A|731|CRACR2A|protein_coding|CODING|NM_001144958.1|5|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala98Thr/c.292G>A|395|CRACR2A|protein_coding|CODING|NM_032680.3|5|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.2076,0.2262,0.1123,0.12,0.13,0.11,,0.000946(N),0.006(P),"-0.96,-0.36,-0.96(T,T,T)",0.0001(T),0.074,1.776639,4.69,3.79,0.561000,1.194000,0.198000,0.995000,1.000000,0.982000,10.8966
missense_variant,CRACR2A,MISSENSE,NM_001144958.1:p.Arg7Gly/c.19A>G,Agg/Ggg,MODERATE,COSM1178335(2),0.162939,0.1835,rs386624878,0.05(D),"0.018,0.04,0.018(B,B,B)",1.995(M),-1.0835(T),,chr12,3806147,3806147,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg7Gly/c.19A>G|731|CRACR2A|protein_coding|CODING|NM_001144958.1|4|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg7Gly/c.19A>G|395|CRACR2A|protein_coding|CODING|NM_032680.3|4|1)","GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.2086,0.2277,0.1143,0.10,0.11,0.09,,0.116388(N),1.000(P),"-0.0,2.36,2.39(T,T,T)",0.0001(T),0.175,1.989014,5.56,1.85,0.519000,0.363000,1.314000,0.012000,0.000000,0.003000,4.089
synonymous_variant,C12orf5,SILENT,NM_020375.2:p.Ala147Ala/c.441G>A,gcG/gcA,LOW,COSM3753224(1),0.183307,0.1577,rs7133330,,,,,,chr12,4461485,4461485,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala147Ala/c.441G>A|270|C12orf5|protein_coding|CODING|NM_020375.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.183,0.2839,0.2714,0.21,0.11,0.27,,,,,,,,,,,,,,,,
synonymous_variant,FGF6,SILENT,NM_020996.1:p.Val139Val/c.417T>C,gtT/gtC,LOW,,0.472244,0.4177,rs2241280,,,,,,chr12,4553332,4553332,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val139Val/c.417T>C|208|FGF6|protein_coding|CODING|NM_020996.1|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5665,0.3487,0.3857,0.45,0.56,0.40,,,,,,,,,,,,,,,,
synonymous_variant,FGF6,SILENT,NM_020996.1:p.Thr122Thr/c.366T>C,acT/acC,LOW,COSM3753229(1),0.479633,0.4206,rs2241279,,,,,,chr12,4553383,4553383,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr122Thr/c.366T>C|208|FGF6|protein_coding|CODING|NM_020996.1|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5654,0.3473,0.3857,0.46,0.58,0.40,,,,,,,,,,,,,,,,
synonymous_variant,FGF6,SILENT,NM_020996.1:p.Ala63Ala/c.189C>G,gcC/gcG,LOW,COSM4147046(1),0.903155,1,rs7358740,,,,,,chr12,4554548,4554548,G,C,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala63Ala/c.189C>G|208|FGF6|protein_coding|CODING|NM_020996.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9669,0.998,0.91,0.73,1.00,,,,,,,,,,,,,,,,
synonymous_variant,DYRK4,SILENT,NM_003845.2:p.Leu42Leu/c.124C>T,Cta/Tta,LOW,COSM3998808(1),0.139377,0.2639,rs2240763,,,,,,chr12,4702173,4702173,C,T,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu42Leu/c.124C>T|520|DYRK4|protein_coding|CODING|NM_003845.2|4|1),non_coding_exon_variant(MODIFIER|||n.506C>T||DYRK4||CODING|NR_104115.1|4|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1718,0.0303,0.0239,0.07,0.15,0.03,,,,,,,,,,,,,,,,
synonymous_variant,DYRK4,SILENT,NM_003845.2:p.Ala325Ala/c.975C>T,gcC/gcT,LOW,,0.15615,0.2649,rs2255588,,,,,,chr12,4716513,4716513,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala39Ala/c.117C>T|234|DYRK4|protein_coding|CODING|NM_001282285.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala39Ala/c.117C>T|233|DYRK4|protein_coding|CODING|NM_001282286.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala325Ala/c.975C>T|520|DYRK4|protein_coding|CODING|NM_003845.2|10|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1585,0.0461,0.0209,0.09,0.22,0.03,,,,,,,,,,,,,,,,
synonymous_variant,AKAP3,SILENT,NM_001278309.1:p.Gln778Gln/c.2334A>G,caA/caG,LOW,,0.148163,0.2679,rs2072359,,,,,,chr12,4735734,4735734,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln778Gln/c.2334A>G|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln778Gln/c.2334A>G|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1605,0.0432,0.0219,0.08,0.18,0.03,,,,,,,,,,,,,,,,
missense_variant,AKAP3,MISSENSE,NM_001278309.1:p.Ser725Leu/c.2174C>T,tCa/tTa,MODERATE,COSM4147053(1),0.154752,0.2688,rs2072357,0.04(D),0.042(B),0.805(L),-0.9002(T),,chr12,4735894,4735894,G,A,het,"missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser725Leu/c.2174C>T|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser725Leu/c.2174C>T|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1503,0.0519,0.0239,0.09,0.19,0.03,,0.000978(D),0.000(P),"3.11,3.11(T,T)",0.0000(T),0.077,1.400781,4.91,4.91,0.655000,2.544000,2.663000,0.490000,0.984000,0.894000,13.4565
missense_variant,AKAP3,MISSENSE,NM_001278309.1:p.Ile661Thr/c.1982T>C,aTa/aCa,MODERATE,COSM3998809(1),0.178714,0.378,rs1990313,0.32(T),0.059(B),0(N),-0.9241(T),,chr12,4736086,4736086,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile661Thr/c.1982T>C|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile661Thr/c.1982T>C|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1708,0.0879,0.0219,0.08,0.18,0.03,,0.189672(N),0.998(P),"3.08,3.08(T,T)",0.0000(T),0.054,-0.385438,5.54,4.4,-0.250000,0.933000,1.761000,0.014000,0.002000,0.049000,9.1742
missense_variant,AKAP3,MISSENSE,NM_001278309.1:p.Glu525Lys/c.1573G>A,Gag/Aag,MODERATE,,0.982827,1,rs1990312,1(T),0.0(B),-2.425(N),-0.9850(T),,chr12,4736495,4736495,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu525Lys/c.1573G>A|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu525Lys/c.1573G>A|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,1,0.98,0.93,1.00,,0.000002(N),0.000(P),"3.59,3.59(T,T)",0.0000(T),0.151,-0.070678,5.65,5.65,-0.254000,1.081000,2.681000,0.751000,1.000000,1.000000,9.8208
missense_variant,AKAP3,MISSENSE,NM_001278309.1:p.Ile500Thr/c.1499T>C,aTt/aCt,MODERATE,COSM3753241(1),0.0882588,0.0774,rs12366671,1(T),0.001(B),-1.7(N),-0.9358(T),,chr12,4736569,4736569,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile500Thr/c.1499T>C|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile500Thr/c.1499T>C|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.138,0.1037,0.1431,0.11,0.03,0.16,,0.715909(N),1.000(P),"3.23,3.23(T,T)",0.0000(T),0.021,-1.442911,5.65,0.433,-0.177000,-0.080000,0.545000,0.001000,0.000000,0.000000,4.2907
synonymous_variant,AKAP3,SILENT,NM_001278309.1:p.Phe479Phe/c.1437T>C,ttT/ttC,LOW,,0.982827,1,rs11063265,,,,,,chr12,4736631,4736631,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe479Phe/c.1437T>C|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe479Phe/c.1437T>C|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,AKAP3,MISSENSE,NM_001278309.1:p.Thr464Ser/c.1391C>G,aCt/aGt,MODERATE,,0.911542,0.9147,rs11063266,0.59(T),0.002(B),-1.39(N),-0.9709(T),,chr12,4736677,4736677,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr464Ser/c.1391C>G|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr464Ser/c.1391C>G|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.862,0.9769,0.996,0.95,0.86,1.00,,0.768099(N),1.000(P),"3.4,3.4(T,T)",0.0000(T),0.029,-1.029425,5.77,-11.0,-1.658000,-3.044000,-4.329000,0.124000,0.000000,0.000000,11.0261
synonymous_variant,AKAP3,SILENT,NM_001278309.1:p.Leu460Leu/c.1378T>C,Ttg/Ctg,LOW,,0.972644,1,rs10774251,,,,,,chr12,4736690,4736690,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu460Leu/c.1378T>C|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu460Leu/c.1378T>C|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,0.9856,0.998,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,AKAP3,SILENT,NM_001278309.1:p.Asn250Asn/c.750T>C,aaT/aaC,LOW,,0.817492,0.7391,rs7960207,,,,,,chr12,4737318,4737318,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn250Asn/c.750T>C|853|AKAP3|protein_coding|CODING|NM_001278309.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn250Asn/c.750T>C|853|AKAP3|protein_coding|CODING|NM_006422.3|5|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8405,0.9366,0.9761,0.88,0.71,0.97,,,,,,,,,,,,,,,,
missense_variant,GALNT8,MISSENSE,NM_017417.1:p.Tyr53Asp/c.157T>G,Tac/Gac,MODERATE,COSM1128586(3),0.381989,0.3611,rs10849133,0.64(T),0.0(B),-0.69(N),-0.9382(T),,chr12,4830000,4830000,T,G,het,"missense_variant(MODERATE|MISSENSE|Tac/Gac|p.Tyr53Asp/c.157T>G|637|GALNT8|protein_coding|CODING|NM_017417.1|1|1),upstream_gene_variant(MODIFIER||732|||LOC101929549||NON_CODING|NR_110112.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.228,0.415,0.3777,0.41,0.47,0.38,,0.000000(N),1.000(P),0.69(T),0.0000(T),0.019,-0.702517,3.74,0.482,-1.720000,-0.294000,0.341000,0.002000,0.000000,0.000000,0.2754
synonymous_variant,GALNT8,SILENT,NM_017417.1:p.Leu132Leu/c.396T>G,ctT/ctG,LOW,COSM3753249(2),0.313099,0.3601,rs2286578,,,,,,chr12,4835882,4835882,T,G,het,synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu132Leu/c.396T>G|637|GALNT8|protein_coding|CODING|NM_017417.1|2|1),,,,,0.2474,0.4179,0.4274,0.36,0.24,0.42,,,,,,,,,,,,,,,,
missense_variant,GALNT8,MISSENSE,NM_017417.1:p.Val515Phe/c.1543G>T,Gtt/Ttt,MODERATE,COSM1179986(2),0.329673,0.3611,rs1468556,0.05(D),0.106(B),0.97(L),-1.0321(T),,chr12,4873163,4873163,G,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val515Phe/c.1543G>T|637|GALNT8|protein_coding|CODING|NM_017417.1|9|1),"H1ESC:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2464,0.4251,0.4225,0.38,0.30,0.42,,0.142084(N),1.000(P),1.7(T),0.0000(T),0.275,0.828853,4.43,-7.55,-0.751000,-1.811000,-0.158000,0.001000,0.000000,0.000000,8.9706
synonymous_variant,KCNA6,SILENT,NM_002235.3:p.Gly20Gly/c.60A>G,ggA/ggG,LOW,,0.447085,0.4395,rs758534,,,,,,chr12,4919267,4919267,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly20Gly/c.60A>G|529|KCNA6|protein_coding|CODING|NM_002235.3|1|1),"HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4693,0.4121,0.4433,0.41,0.42,0.41,,,,,,,,,,,,,,,,
synonymous_variant,KCNA1,SILENT,NM_000217.2:p.Cys228Cys/c.684T>C,tgT/tgC,LOW,COSM1362235(1),0.489018,0.631,rs1048500,,,,,,chr12,5021228,5021228,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys228Cys/c.684T>C|495|KCNA1|protein_coding|CODING|NM_000217.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000020220.1|RCV000117315.2,,0.4162,0.5072,0.498,0.47,0.41,0.50,,,,,,,,,,,,,,,,
synonymous_variant,KCNA1,SILENT,NM_000217.2:p.Thr268Thr/c.804G>C,acG/acC,LOW,,0.533347,0.6627,rs2227910,,,,,,chr12,5021348,5021348,G,C,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr268Thr/c.804G>C|495|KCNA1|protein_coding|CODING|NM_000217.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000020222.1|RCV000117316.2,,0.4601,0.5764,0.5159,0.50,0.47,0.52,,,,,,,,,,,,,,,,
synonymous_variant,KCNA1,SILENT,NM_000217.2:p.Thr480Thr/c.1440T>A,acT/acA,LOW,,0.820487,0.9623,rs4766309,,,,,,chr12,5021984,5021984,T,A,hom,synonymous_variant(LOW|SILENT|acT/acA|p.Thr480Thr/c.1440T>A|495|KCNA1|protein_coding|CODING|NM_000217.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000117314.2,,0.7618,0.7493,0.6928,0.74,0.86,0.68,,,,,,,,,,,,,,,,
synonymous_variant,KCNA5,SILENT,NM_002234.3:p.Gly383Gly/c.1149T>C,ggT/ggC,LOW,,0.98103,0.996,rs2359641,,,,,,chr12,5154462,5154462,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly383Gly/c.1149T>C|613|KCNA5|protein_coding|CODING|NM_002234.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9885,1,0.98,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NTF3,SILENT,NM_001102654.1:p.Pro97Pro/c.291G>A,ccG/ccA,LOW,COSM3753389(2),0.488219,0.4583,rs6332,,,,,,chr12,5603632,5603632,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro84Pro/c.252G>A|257|NTF3|protein_coding|CODING|NM_002527.4|1|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro97Pro/c.291G>A|270|NTF3|protein_coding|CODING|NM_001102654.1|2|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.4796,0.438,0.503,0.52,0.53,0.51,,,,,,,,,,,,,,,,
synonymous_variant,NTF3,SILENT,NM_001102654.1:p.Pro198Pro/c.594C>T,ccC/ccT,LOW,,0.106629,0.0228,rs10849277,,,,,,chr12,5603935,5603935,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro185Pro/c.555C>T|257|NTF3|protein_coding|CODING|NM_002527.4|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro198Pro/c.594C>T|270|NTF3|protein_coding|CODING|NM_001102654.1|2|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.2106,0.0937,0.2048,0.14,0.06,0.19,,,,,,,,,,,,,,,,
synonymous_variant,ANO2,SILENT,NM_001278596.1:p.Ser904Ser/c.2712C>T,tcC/tcT,LOW,,0.342252,0.3284,rs2277398,,,,,,chr12,5674754,5674754,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser904Ser/c.2712C>T|1003|ANO2|protein_coding|CODING|NM_001278596.1|25|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser900Ser/c.2700C>T|999|ANO2|protein_coding|CODING|NM_001278597.1|25|1)","HUVEC:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4018,0.3646,0.4553,0.40,0.24,0.47,,,,,,,,,,,,,,,,
synonymous_variant,ANO2,SILENT,NM_001278596.1:p.Gly146Gly/c.438A>G,ggA/ggG,LOW,,0.147364,0.1855,rs3741902,,,,,,chr12,6030302,6030302,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly146Gly/c.438A>G|1003|ANO2|protein_coding|CODING|NM_001278596.1|3|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly142Gly/c.426A>G|999|ANO2|protein_coding|CODING|NM_001278597.1|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1922,0.1427,0.2147,0.16,0.07,0.20,,,,,,,,,,,,,,,,
missense_variant,ANO2,MISSENSE,NM_001278596.1:p.Val112Ala/c.335T>C,gTg/gCg,MODERATE,,0.15655,0.1915,rs3741903,1(T),0.0(B),-0.6(N),-1.0625(T),,chr12,6030405,6030405,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val112Ala/c.335T>C|1003|ANO2|protein_coding|CODING|NM_001278596.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val108Ala/c.323T>C|999|ANO2|protein_coding|CODING|NM_001278597.1|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.227,0.1441,0.2167,0.16,0.07,0.20,,0.312671(N),1.000(P),"-0.22,-0.22,-0.22(T,T,T)",0.0000(T),0.035,-2.586289,4.52,1.37,-2.318000,-0.076000,0.524000,0.030000,0.002000,0.000000,7.1216
synonymous_variant,VWF,SILENT,NM_000552.3:p.Thr2413Thr/c.7239T>C,acT/acC,LOW,,0.82508,0.9028,rs216867,,,,,,chr12,6091000,6091000,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr2413Thr/c.7239T>C|2813|VWF|protein_coding|CODING|NM_000552.3|42|1),"HUVEC:H3K36me3,IMR90:H3K27me3",,,,0.7924,0.8991,0.8817,0.84,0.75,0.89,,,,,,,,,,,,,,,,
synonymous_variant,VWF,SILENT,NM_000552.3:p.Thr2282Thr/c.6846A>G,acA/acG,LOW,COSM3753429(1),0.107029,0.001,rs1053523,,,,,,chr12,6094784,6094784,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr2282Thr/c.6846A>G|2813|VWF|protein_coding|CODING|NM_000552.3|39|1),"HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0644,0.1124,0.1421,0.16,0.19,0.15,,,,,,,,,,,,,,,,
synonymous_variant,VWF,SILENT,NM_000552.3:p.Arg960Arg/c.2880G>A,cgG/cgA,LOW,COSM3753432(1),0.179113,0.004,rs1800380,,,,,,chr12,6138595,6138595,C,T,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg960Arg/c.2880G>A|2813|VWF|protein_coding|CODING|NM_000552.3|22|1),"HUVEC:PolII,HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.0992,0.1902,0.2555,0.27,0.31,0.25,,,,,,,,,,,,,,,,
missense_variant,VWF,MISSENSE,NM_000552.3:p.Gln852Arg/c.2555A>G,cAg/cGg,MODERATE,COSM4147372(1),0.896965,0.7907,rs216321,1(T),0.0(B),-0.04(N),-0.9387(T),,chr12,6143984,6143984,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln852Arg/c.2555A>G|2813|VWF|protein_coding|CODING|NM_000552.3|20|1),"GM06990:H3K27me3,HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8855,0.9265,0.9135,0.92,0.95,0.91,,0.182460(N),0.000(P),-0.09(T),0.0000(T),0.043,0.021663,5.41,0.423,-0.186000,-0.099000,-0.541000,0.980000,0.994000,0.009000,10.0409
synonymous_variant,VWF,SILENT,NM_000552.3:p.Tyr795Tyr/c.2385T>C,taT/taC,LOW,,0.336462,0.0913,rs1063857,,,,,,chr12,6153514,6153514,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr795Tyr/c.2385T>C|2813|VWF|protein_coding|CODING|NM_000552.3|18|1),"HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,HeLa-S3:Cfos,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.2178,0.2406,0.3678,0.43,0.57,0.36,,,,,,,,,,,,,,,,
missense_variant,VWF,MISSENSE,NM_000552.3:p.Thr789Ala/c.2365A>G,Acc/Gcc,MODERATE,COSM3753433(1),0.336262,0.0913,rs1063856,1(T),0.0(B),-0.895(N),-0.9562(T),,chr12,6153534,6153534,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr789Ala/c.2365A>G|2813|VWF|protein_coding|CODING|NM_000552.3|18|1),"HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,HeLa-S3:Cfos,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",Coagulation_factor_levels,RCV000086605.1,,0.2178,0.2406,0.3668,0.43,0.57,0.36,,0.040287(N),0.000(P),-2.64(D),0.0000(T),0.091,-0.204232,4.19,2.17,-0.213000,0.446000,0.890000,0.907000,0.995000,0.995000,9.2439
synonymous_variant,VWF,SILENT,NM_000552.3:p.Tyr516Tyr/c.1548T>C,taT/taC,LOW,COSM1162475(3),0.376997,0.2103,rs1800379,,,,,,chr12,6167196,6167196,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr516Tyr/c.1548T>C|2813|VWF|protein_coding|CODING|NM_000552.3|14|1),"HUVEC:H3K36me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,H1ESC:CTCF",,,,0.2802,0.2709,0.3628,0.43,0.59,0.35,,,,,,,,,,,,,,,,
missense_variant,VWF,MISSENSE,NM_000552.3:p.His484Arg/c.1451A>G,cAt/cGt,MODERATE,COSM431631(1),0.51877,0.6667,rs1800378,1(T),0.025(B),-0.79(N),-0.9388(T),,chr12,6172202,6172202,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His484Arg/c.1451A>G|2813|VWF|protein_coding|CODING|NM_000552.3|13|1),"NHEK:CTCF,HepG2:H3K4me2,HUVEC:H3K36me3",,,,0.7403,0.5101,0.6541,0.51,0.22,0.66,,0.221055(N),0.000(P),0.4(T),0.0000(T),0.063,-2.078172,4.88,1.25,-0.333000,0.120000,0.272000,0.004000,0.905000,0.129000,1.2808
synonymous_variant,VWF,SILENT,NM_000552.3:p.Thr445Thr/c.1335C>T,acC/acT,LOW,,,,rs368896272,,,,,,chr12,6173509,6173509,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr445Thr/c.1335C>T|2813|VWF|protein_coding|CODING|NM_000552.3|12|1),"GM06990:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PLEKHG6,MISSENSE,NM_001144856.1:p.Ala35Thr/c.103G>A,Gct/Act,MODERATE,,0.459265,0.2688,rs386609895,0.19(T),"0.009,0.04(B,B)",1.78(L),-0.9260(T),,chr12,6421495,6421495,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala35Thr/c.103G>A|790|PLEKHG6|protein_coding|CODING|NM_001144856.1|2|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala35Thr/c.103G>A|790|PLEKHG6|protein_coding|CODING|NM_018173.3|2|1),upstream_gene_variant(MODIFIER||322||758|PLEKHG6|protein_coding|CODING|NM_001144857.1||1)","H1ESC:H3K36me3,HeLa-S3:DNase1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3875,0.3948,0.5805,0.58,0.60,0.57,,0.633662(N),1.000(P),"0.79,0.79,0.79(T,T,T)",0.0000(T),0.027,2.028752,4.16,-4.25,-0.253000,-0.922000,-0.155000,0.030000,0.000000,0.000000,7.443
synonymous_variant,PLEKHG6,SILENT,NM_001144856.1:p.His349His/c.1047C>T,caC/caT,LOW,COSM4147384(1),0.373802,0.2817,rs1468603,,,,,,chr12,6427052,6427052,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His349His/c.1047C>T|790|PLEKHG6|protein_coding|CODING|NM_001144856.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His317His/c.951C>T|758|PLEKHG6|protein_coding|CODING|NM_001144857.1|9|1),synonymous_variant(LOW|SILENT|caC/caT|p.His349His/c.1047C>T|790|PLEKHG6|protein_coding|CODING|NM_018173.3|10|1)","H1ESC:H3K36me3,HeLa-S3:PolII,HepG2:H3K36me3",,,,0.4141,0.353,0.6203,0.49,0.28,0.60,,,,,,,,,,,,,,,,
synonymous_variant,TNFRSF1A,SILENT,NM_001065.3:p.Pro12Pro/c.36A>G,ccA/ccG,LOW,COSM431654(2),0.301518,0.122,rs767455,,,,,,chr12,6450945,6450945,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro12Pro/c.36A>G|455|TNFRSF1A|protein_coding|CODING|NM_001065.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K14ac,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,IMR90:H2AK5ac,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,IMR90:H3K18ac,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:H2AZ,IMR90:H4K8ac",,,,0.272,0.3012,0.4294,0.40,0.36,0.43,,,,,,,,,,,,,,,,
missense_variant,SCNN1A,MISSENSE,NM_001159576.1:p.Thr722Ala/c.2164A>G,Acc/Gcc,MODERATE,COSM1747194(3),0.740615,0.496,rs2228576,1(T),"0.0,0.0,0.0(B,B,B)",-2.08(N),-0.9392(T),,chr12,6457062,6457062,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr663Ala/c.1987A>G|669|SCNN1A|protein_coding|CODING|NM_001038.5|13|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr686Ala/c.2056A>G|692|SCNN1A|protein_coding|CODING|NM_001159575.1|13|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr722Ala/c.2164A>G|728|SCNN1A|protein_coding|CODING|NM_001159576.1|12|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K36me3,HepG2:H3K36me3",,,,0.7607,0.7392,0.6938,0.76,0.90,0.69,,0.520473(N),1.000(P),"-0.29,-0.27,-0.08,-0.22,-0.25(T,T,T,T,T)",0.0000(T),0.023,-1.240246,3.95,1.89,-0.227000,0.425000,-0.586000,0.002000,0.001000,0.000000,3.4713
synonymous_variant,LTBR,SILENT,NM_002342.2:p.Ala172Ala/c.516C>A,gcC/gcA,LOW,COSM3765664(4),0.848243,0.873,rs2364480,,,,,,chr12,6495275,6495275,C,A,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala153Ala/c.459C>A|416|LTBR|protein_coding|CODING|NM_001270987.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala172Ala/c.516C>A|435|LTBR|protein_coding|CODING|NM_002342.2|5|1)","GM12878:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8108,0.7954,0.7346,0.80,0.93,0.74,,,,,,,,,,,,,,,,
missense_variant,CD27,MISSENSE,NM_001242.4:p.His233Arg/c.698A>G,cAt/cGt,MODERATE,COSM4147392(1),0.997404,1,rs2532502,0.48(T),0.0(B),0(N),-0.9636(T),,chr12,6560473,6560473,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His233Arg/c.698A>G|260|CD27|protein_coding|CODING|NM_001242.4|6|1),upstream_gene_variant(MODIFIER||704||468|TAPBPL|protein_coding|CODING|NM_018009.4||1),non_coding_exon_variant(MODIFIER|||n.211T>C||CD27-AS1||NON_CODING|NR_015382.1|1|1)","HepG2:H3K4me2,HSMM:H2AZ,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,HepG2:HEY1,H1ESC:H4K5ac,IMR90:H3K4ac,HUVEC:H3K4me2,H1ESC:H3K4me1,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,NHEK:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HepG2:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.998,0.9986,0.9901,0.99,1.00,0.99,,0.693019(N),1.000(P),-3.33(D),0.0000(T),0.046,0.330925,3.74,1.88,-2.499000,0.074000,0.357000,0.507000,0.221000,0.000000,6.4738
missense_variant,NCAPD2,MISSENSE,NM_014865.3:p.Gln83Glu/c.247C>G,Caa/Gaa,MODERATE,COSM3753449(1),0.795527,0.6706,rs714774,1(T),0.001(B),-1.735(N),-0.9420(T),,chr12,6619284,6619284,C,G,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln83Glu/c.247C>G|1401|NCAPD2|protein_coding|CODING|NM_014865.3|4|1),upstream_gene_variant(MODIFIER||104|||SCARNA10||NON_CODING|NR_004387.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7198,0.8285,0.7256,0.79,0.94,0.72,,0.000000(N),0.000(P),"1.15,1.17(T,T)",0.0000(T),0.062,-0.066079,5.32,5.32,-0.225000,1.260000,3.727000,0.981000,1.000000,1.000000,14.5486
synonymous_variant,NCAPD2,SILENT,NM_014865.3:p.Ile640Ile/c.1920C>A,atC/atA,LOW,COSM3753451(1),0.53155,0.5704,rs917634,,,,,,chr12,6631169,6631169,C,A,hom,synonymous_variant(LOW|SILENT|atC/atA|p.Ile640Ile/c.1920C>A|1401|NCAPD2|protein_coding|CODING|NM_014865.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3988,0.6225,0.4742,0.50,0.58,0.46,,,,,,,,,,,,,,,,
synonymous_variant,NCAPD2,SILENT,NM_014865.3:p.Asn1161Asn/c.3483C>T,aaC/aaT,LOW,COSM3753452(1),0.344249,0.2054,rs740850,,,,,,chr12,6638116,6638116,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1161Asn/c.3483C>T|1401|NCAPD2|protein_coding|CODING|NM_014865.3|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.2505,0.4207,0.2823,0.35,0.50,0.27,,,,,,,,,,,,,,,,
synonymous_variant,NCAPD2,SILENT,NM_014865.3:p.Val1267Val/c.3801A>G,gtA/gtG,LOW,,0.78155,0.7063,rs1043262,,,,,,chr12,6639088,6639088,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val1267Val/c.3801A>G|1401|NCAPD2|protein_coding|CODING|NM_014865.3|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7239,0.8228,0.7137,0.77,0.89,0.71,,,,,,,,,,,,,,,,
synonymous_variant,CHD4,SILENT,NM_001273.3:p.Ala1739Ala/c.5217C>T,gcC/gcT,LOW,COSM1639215(1),0.000599042,0,rs34509399,,,,,,chr12,6687206,6687206,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1739Ala/c.5217C>T|1912|CHD4|protein_coding|CODING|NM_001273.3|36|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1732Ala/c.5196C>T|1905|CHD4|protein_coding|CODING|NM_001297553.1|35|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.003,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,LAG3,MISSENSE,NM_002286.5:p.Ile455Thr/c.1364T>C,aTc/aCc,MODERATE,,0.669329,0.8224,rs870849,0.01(D),0.003(B),2.19(M),-1.0584(T),,chr12,6887020,6887020,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile455Thr/c.1364T>C|525|LAG3|protein_coding|CODING|NM_002286.5|7|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.6871,0.6816,0.6093,0.60,0.56,0.62,,0.169023(N),0.000(P),2.54(T),0.0000(T),0.064,0.752530,5.32,-1.58,-0.550000,-0.208000,0.034000,0.016000,0.460000,0.732000,6.0127
synonymous_variant,CD4,SILENT,NM_000616.4:p.Ser341Ser/c.1023T>C,agT/agC,LOW,,0.746805,0.9137,rs1055141,,,,,,chr12,6926363,6926363,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser341Ser/c.1023T>C|458|CD4|protein_coding|CODING|NM_000616.4|7|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser162Ser/c.486T>C|279|CD4|protein_coding|CODING|NM_001195014.2|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser68Ser/c.204T>C|185|CD4|protein_coding|CODING|NM_001195015.2|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser68Ser/c.204T>C|185|CD4|protein_coding|CODING|NM_001195016.2|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser68Ser/c.204T>C|185|CD4|protein_coding|CODING|NM_001195017.2|5|1)","H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3",,,,0.7515,0.6686,0.5696,0.61,0.74,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CD4,SILENT,NM_000616.4:p.Cys447Cys/c.1341T>C,tgT/tgC,LOW,COSM3765665(1),0.75619,0.9117,rs12821756,,,,,,chr12,6928075,6928075,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys447Cys/c.1341T>C|458|CD4|protein_coding|CODING|NM_000616.4|9|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys268Cys/c.804T>C|279|CD4|protein_coding|CODING|NM_001195014.2|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys174Cys/c.522T>C|185|CD4|protein_coding|CODING|NM_001195015.2|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys174Cys/c.522T>C|185|CD4|protein_coding|CODING|NM_001195016.2|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys174Cys/c.522T>C|185|CD4|protein_coding|CODING|NM_001195017.2|7|1)","H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7536,0.6758,0.5686,0.62,0.77,0.54,,,,,,,,,,,,,,,,
missense_variant,GPR162,MISSENSE,NM_019858.1:p.Arg459Gly/c.1375A>G,Aga/Gga,MODERATE,COSM3753460(1),0.105232,0.002,rs11612427,0.01(D),"0.001,0.0(B,B)",1.385(L),-1.0290(T),,chr12,6935977,6935977,A,G,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg175Gly/c.523A>G|304|GPR162|protein_coding|CODING|NM_014449.1|5|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg459Gly/c.1375A>G|588|GPR162|protein_coding|CODING|NM_019858.1|5|1),upstream_gene_variant(MODIFIER||1561||735|LEPREL2|protein_coding|CODING|NM_014262.4||1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.0573,0.2104,0.3012,0.23,0.06,0.31,,,1.000(P),"3.07,0.91,0.92(T,T,T)",0.0000(T),0.282,1.529094,4.24,3.13,0.459000,1.006000,1.813000,0.758000,0.100000,0.074000,10.9424
synonymous_variant,LEPREL2,SILENT,NM_014262.4:p.Lys300Lys/c.900A>G,aaA/aaG,LOW,,0.641573,0.7073,rs10744716,0.04(D),0.024(B),,-1.0406(T),,chr12,6939850,6939850,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys300Lys/c.900A>G|735|LEPREL2|protein_coding|CODING|NM_014262.4|4|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4939,0.6628,0.4761,0.56,0.75,0.47,,0.293295(N),1.000(P),"1.23,1.23(T,T)",0.0000(T),0.255,0.658171,4.76,2.35,0.402000,0.783000,0.347000,0.048000,0.087000,0.000000,4.5852
missense_variant,LEPREL2,MISSENSE,NM_014262.4:p.Gly385Glu/c.1154G>A,gGg/gAg,MODERATE,,0.304912,0.3472,rs1047771,,,,,,chr12,6941021,6941021,G,A,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly385Glu/c.1154G>A|735|LEPREL2|protein_coding|CODING|NM_014262.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3057,0.2896,0.2793,0.26,0.25,0.26,,,,,,,,,,,,,,,,
stop_lost,LRRC23,MISSENSE,NM_006992.3:p.Ter313Tyrext*?/c.939G>C,taG/taC,HIGH,,,,rs371209973,,,,,,chr12,7023235,7023235,G,C,het,"stop_lost(HIGH|MISSENSE|taG/taC|p.Ter313Tyrext*?/c.939G>C|312|LRRC23|protein_coding|CODING|NM_006992.3|7|1),3_prime_UTR_variant(MODIFIER||1068|c.*205G>C|343|LRRC23|protein_coding|CODING|NM_001135217.1|8|1),3_prime_UTR_variant(MODIFIER||1068|c.*205G>C|343|LRRC23|protein_coding|CODING|NM_201650.2|8|1),upstream_gene_variant(MODIFIER||379||434|ENO2|protein_coding|CODING|NM_001975.2||1)","CD4:H2AZ,HepG2:H3K4me2,CD4:H3K18ac,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM06990:H3K4me3,HepG2:HEY1,IMR90:H3K4me1,IMR90:H3K27ac,NHEK:H3K27me3,CD4:H3K4me1,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,HepG2:DNase1,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,IMR90:H4K8ac",,,,,,,0.00,0.00,0.00,,,0.983(N),,,.,1.419353,2.84,1.95,0.313000,0.769000,-0.380000,0.033000,0.004000,0.000000,5.7763
synonymous_variant,PTPN6,SILENT,NM_080549.3:p.Gly326Gly/c.978T>C,ggT/ggC,LOW,,0.948682,0.998,rs2110072,,,,,,chr12,7065635,7065635,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly326Gly/c.978T>C|595|PTPN6|protein_coding|CODING|NM_002831.5|9|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly328Gly/c.984T>C|597|PTPN6|protein_coding|CODING|NM_080548.4|9|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly326Gly/c.978T>C|624|PTPN6|protein_coding|CODING|NM_080549.3|9|1)","H1ESC:H3K36me3,GM12878:Pax5,GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K36me3,GM12878:H3K79me2,CD4:H4K20me1,GM12878:EBF,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.9969,0.951,0.9433,0.92,0.88,0.94,,,,,,,,,,,,,,,,
splice_acceptor_variant,EMG1,protein_coding,NM_006331.7:c.126T>C,,HIGH,,1,1,rs17857448,,,,,EMG1:1.00(1);,chr12,7080212,7080212,T,C,hom,"splice_acceptor_variant(HIGH|||c.126T>C|243|EMG1|protein_coding|CODING|NM_006331.7|2|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_donor_variant(HIGH|||c.126T>C|243|EMG1|protein_coding|CODING|NM_006331.7|1|1|WARNING_TRANSCRIPT_INCOMPLETE),upstream_gene_variant(MODIFIER||296||299|PHB2|protein_coding|CODING|NM_001144831.1||1),upstream_gene_variant(MODIFIER||296||261|PHB2|protein_coding|CODING|NM_001267700.1||1),intron_variant(MODIFIER|||c.125+1T>C|243|EMG1|protein_coding|CODING|NM_006331.7|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K56ac,GM12878:ETS1,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:MOF,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,C1R,MISSENSE,NM_001733.4:p.Glu184Lys/c.550G>A,Gaa/Aaa,MODERATE,,0.17492,0.3512,rs1126605,0.96(T),"0.001,0.001,0.002(B,B,B)",,-0.7993(T),,chr12,7242204,7242204,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu184Lys/c.550G>A|627|C1R|protein_coding|CODING|NM_001733.4|4|1|WARNING_TRANSCRIPT_INCOMPLETE),"HUVEC:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.181,0.062,0.1014,0.10,0.14,0.08,,0.205770(N),0.999(P),"-4.06,-4.06(D,D)",0.0000(T),0.149,-1.079027,5.31,-5.24,-3.719000,-1.367000,-0.444000,0.078000,0.001000,0.000000,10.563
missense_variant,C1RL,MISSENSE,NM_016546.3:p.Ile285Val/c.853A>G,Atc/Gtc,MODERATE,COSM3998940(1),0.432708,0.3264,rs3742089,,,-0.33(N),-1.0036(T),,chr12,7249598,7249598,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile243Val/c.727A>G|445|C1RL|protein_coding|CODING|NM_001297640.1|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile285Val/c.853A>G|487|C1RL|protein_coding|CODING|NM_016546.3|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro300Pro/c.900A>G|314|C1RL|protein_coding|CODING|NM_001297642.1|6|1)","H1ESC:H3K36me3,K562:PolII,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.545,0.4914,0.3171,0.40,0.48,0.36,,,0.000(P),,0.0000(T),.,0.966637,4.94,0.886,0.414000,0.290000,-0.914000,0.806000,0.983000,0.029000,5.1861
missense_variant,RBP5,MISSENSE,NM_031491.2:p.Met115Leu/c.343A>T,Atg/Ttg,MODERATE,COSM4147449(1),0.294529,0.1736,rs2290237,0.12(T),0.0(B),-0.46(N),-0.9213(T),,chr12,7277236,7277236,T,A,het,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met115Leu/c.343A>T|135|RBP5|protein_coding|CODING|NM_031491.2|3|1),"HepG2:H3K4me2,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3722,0.4827,0.3738,0.32,0.20,0.39,,0.012450(N),0.946(P),3.18(T),0.0000(T),0.037,1.090168,3.19,2.04,0.379000,0.618000,0.473000,0.539000,0.008000,0.006000,5.1611
synonymous_variant,ACSM4,SILENT,NM_001080454.1:p.Pro173Pro/c.519A>T,ccA/ccT,LOW,,0.323083,0.3502,rs7968241,,,,,,chr12,7463241,7463241,A,T,het,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro173Pro/c.519A>T|580|ACSM4|protein_coding|CODING|NM_001080454.1|3|1),,,,,0.2352,0.3156,0.5487,0.43,0.25,0.52,,,,,,,,,,,,,,,,
synonymous_variant,CD163L1,SILENT,NM_001297650.1:p.Asn847Asn/c.2541C>T,aaC/aaT,LOW,COSM1364236(3),0.463858,0.4752,rs7306824,,,,,,chr12,7528471,7528471,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn847Asn/c.2541C>T|1463|CD163L1|protein_coding|CODING|NM_001297650.1|10|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn837Asn/c.2511C>T|1453|CD163L1|protein_coding|CODING|NM_174941.5|10|1)",,,,,0.407,0.4841,0.2714,0.36,0.56,0.25,,,,,,,,,,,,,,,,
missense_variant,CD163L1,MISSENSE,NM_001297650.1:p.Leu533Met/c.1597T>A,Ttg/Atg,MODERATE,,0.99381,1,rs6488268,0.13(T),"0.484,0.589(P,P)",1.745(L),-0.9023(T),,chr12,7551022,7551022,A,T,hom,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu533Met/c.1597T>A|1463|CD163L1|protein_coding|CODING|NM_001297650.1|7|1),missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu523Met/c.1567T>A|1453|CD163L1|protein_coding|CODING|NM_174941.5|7|1)",,,,,1,0.9986,1,0.99,0.97,1.00,,0.136007(N),1.000(P),"1.45,1.45,1.45(T,T,T)",0.0000(T),0.164,1.284141,2.11,-0.69,-0.540000,-0.583000,-5.323000,0.018000,0.000000,0.000000,3.1364
synonymous_variant,CD163L1,SILENT,NM_001297650.1:p.Val523Val/c.1569T>G,gtT/gtG,LOW,,0.99381,1,rs6488269,,,,,,chr12,7551050,7551050,A,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val523Val/c.1569T>G|1463|CD163L1|protein_coding|CODING|NM_001297650.1|7|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val513Val/c.1539T>G|1453|CD163L1|protein_coding|CODING|NM_174941.5|7|1)",,,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CD163L1,SILENT,NM_001297650.1:p.Gly187Gly/c.561A>G,ggA/ggG,LOW,COSM3998943(1),0.605831,0.6409,rs58195891,,,,,,chr12,7585247,7585247,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly187Gly/c.561A>G|1463|CD163L1|protein_coding|CODING|NM_001297650.1|4|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly177Gly/c.531A>G|1453|CD163L1|protein_coding|CODING|NM_174941.5|4|1)",,,,,0.5102,0.5706,0.3221,0.46,0.78,0.30,,,,,,,,,,,,,,,,
missense_variant,CD163,MISSENSE,NM_004244.5:p.Ile342Val/c.1024A>G,Atc/Gtc,MODERATE,,0.76258,0.6905,rs4883263,0.09(T),"0.002,0.001,0.007(B,B,B)",0.96(L),-1.0201(T),,chr12,7649484,7649484,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile342Val/c.1024A>G|1156|CD163|protein_coding|CODING|NM_004244.5|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile342Val/c.1024A>G|1121|CD163|protein_coding|CODING|NM_203416.3|5|1)","HUVEC:H3K27me3,NHEK:H3K4me1,HepG2:H3K27me3",,,,0.8364,0.8487,0.9662,0.85,0.63,0.97,,0.033085(N),1.000(P),"1.31,1.31,1.31,1.31(T,T,T,T)",0.0000(T),0.035,0.252828,5.03,-1.5,-0.994000,-0.925000,-0.207000,0.289000,0.003000,0.001000,11.1117
synonymous_variant,CD163,SILENT,NM_004244.5:p.Gly285Gly/c.855A>G,ggA/ggG,LOW,,0.48123,0.3839,rs4883264,,,,,,chr12,7649653,7649653,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly285Gly/c.855A>G|1156|CD163|protein_coding|CODING|NM_004244.5|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly285Gly/c.855A>G|1121|CD163|protein_coding|CODING|NM_203416.3|5|1)","HUVEC:H3K27me3,NHEK:H3K4me1,HepG2:H3K27me3",,,,0.5961,0.7233,0.7694,0.58,0.22,0.76,,,,,,,,,,,,,,,,
synonymous_variant,CD163,SILENT,NM_004244.5:p.Leu24Leu/c.70T>C,Ttg/Ctg,LOW,,0.462061,0.3829,rs3210140,,,,,,chr12,7655137,7655137,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu24Leu/c.70T>C|1156|CD163|protein_coding|CODING|NM_004244.5|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu24Leu/c.70T>C|1121|CD163|protein_coding|CODING|NM_203416.3|2|1)",HUVEC:H3K27me3,,,,0.5276,0.6931,0.7346,0.55,0.23,0.72,,,,,,,,,,,,,,,,
synonymous_variant,APOBEC1,SILENT,NM_001644.3:p.Tyr178Tyr/c.534C>T,taC/taT,LOW,COSM147408(2),0.242013,0.2312,rs10431309,,,,,,chr12,7803646,7803646,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr178Tyr/c.534C>T|236|APOBEC1|protein_coding|CODING|NM_001644.3|4|1),,,,,0.3978,0.1916,0.2594,0.21,0.14,0.24,,,,,,,,,,,,,,,,
missense_variant,APOBEC1,MISSENSE,NM_001644.3:p.Met80Ile/c.240G>C,atG/atC,MODERATE,COSM3736078(1),0.659145,0.5565,rs2302515,0.24(T),0.0(B),-1.39(N),-0.9716(T),,chr12,7805236,7805236,C,G,hom,missense_variant(MODERATE|MISSENSE|atG/atC|p.Met80Ile/c.240G>C|236|APOBEC1|protein_coding|CODING|NM_001644.3|3|1),HUVEC:H3K27me3,,,,0.7689,0.6225,0.8946,0.78,0.56,0.89,,0.804464(N),1.000(P),-0.03(T),0.0000(T),0.051,-0.728398,4.48,2.61,-0.357000,0.468000,-0.218000,0.290000,0.068000,0.000000,4.4167
missense_variant,DPPA3,MISSENSE,NM_199286.2:p.Glu51Gln/c.151G>C,Gaa/Caa,MODERATE,COSM3753501(1),0.217851,0.1845,rs2024320,0.1(T),0.001(B),0.55(N),-1.0048(T),,chr12,7867847,7867847,G,C,het,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu51Gln/c.151G>C|159|DPPA3|protein_coding|CODING|NM_199286.2|2|1),,,,,0.183,0.2349,0.3121,0.28,0.21,0.31,,,1.000(P),0.88(T),0.0000(T),0.041,-0.368323,2.48,-4.95,-1.250000,-2.785000,-2.670000,0.000000,0.000000,0.000000,8.0509
missense_variant,CLEC4C,MISSENSE,NM_130441.2:p.Pro66Ser/c.196C>T,Cca/Tca,MODERATE,COSM147410(2),0.186901,0.1994,rs73056605,0.96(T),"0.004,0.01(B,B)",-1.95(N),-0.9748(T),,chr12,7894056,7894056,G,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro66Ser/c.196C>T|213|CLEC4C|protein_coding|CODING|NM_130441.2|4|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro35Ser/c.103C>T|182|CLEC4C|protein_coding|CODING|NM_203503.1|3|1)",,,,,0.1534,0.3285,0.2962,0.22,0.09,0.29,,,1.000(P),"4.49,4.44,4.44,4.49(T,T,T,T)",0.0000(T),0.038,-2.238978,1.79,-1.29,-0.351000,-0.356000,-0.053000,0.079000,0.000000,0.000000,4.8437
synonymous_variant,NANOG,SILENT,NM_024865.3:p.Pro55Pro/c.165T>C,ccT/ccC,LOW,,0.379593,0.0536,rs4294629,,,,,,chr12,7945559,7945559,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro55Pro/c.165T>C|289|NANOG|protein_coding|CODING|NM_001297698.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro55Pro/c.165T>C|305|NANOG|protein_coding|CODING|NM_024865.3|2|1)","H1ESC:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.4591,0.5259,0.5915,0.51,0.36,0.58,,,,,,,,,,,,,,,,
missense_variant,NANOG,MISSENSE,NM_024865.3:p.Lys82Asn/c.246G>T,aaG/aaT,MODERATE,,,,rs2889551,0.48(T),0.001(B),-0.345(N),-1.0535(T),,chr12,7945640,7945640,G,T,het,"missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys82Asn/c.246G>T|289|NANOG|protein_coding|CODING|NM_001297698.1|2|1),missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys82Asn/c.246G>T|305|NANOG|protein_coding|CODING|NM_024865.3|2|1)","H1ESC:H3K36me3,HeLa-S3:H3K27me3",,,,,,,,,,,0.030995(N),1.000(P),"-2.92,-2.93,-2.89(D,D,D)",0.0000(T),0.07,0.425557,4.23,-8.46,-4.630000,-2.317000,-2.719000,0.000000,0.000000,0.000000,8.2346
synonymous_variant,NANOG,SILENT,NM_024865.3:p.Pro92Pro/c.276G>A,ccG/ccA,LOW,,0.379593,0.0536,rs4354764,,,,,,chr12,7945670,7945670,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro92Pro/c.276G>A|289|NANOG|protein_coding|CODING|NM_001297698.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro92Pro/c.276G>A|305|NANOG|protein_coding|CODING|NM_024865.3|2|1)","H1ESC:H3K36me3,HeLa-S3:H3K27me3",,,,0.4591,0.5259,0.5915,,,,,,,,,,,,,,,,,,,
synonymous_variant,NANOG,SILENT,NM_024865.3:p.Ser121Ser/c.363C>T,agC/agT,LOW,,0.160543,0.006,rs4438116,,,,,,chr12,7945757,7945757,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser121Ser/c.363C>T|289|NANOG|protein_coding|CODING|NM_001297698.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser121Ser/c.363C>T|305|NANOG|protein_coding|CODING|NM_024865.3|2|1)",H1ESC:H3K36me3,,,,0.1779,0.1787,0.3151,0.23,0.16,0.27,,,,,,,,,,,,,,,,
synonymous_variant,NANOG,SILENT,NM_024865.3:p.Leu177Leu/c.531T>C,ctT/ctC,LOW,COSM4147473(1),,,rs4012939,,,,,,chr12,7947304,7947304,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu177Leu/c.531T>C|305|NANOG|protein_coding|CODING|NM_024865.3|4|1),intron_variant(MODIFIER|||c.502-19T>C|289|NANOG|protein_coding|CODING|NM_001297698.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3",,,,,,,0.45,0.33,0.51,,,,,,,,,,,,,,,,
missense_variant,SLC2A14,MISSENSE,NM_001286237.1:p.Gly521Glu/c.1562G>A,gGg/gAg,MODERATE,COSM431882(2),0.255391,0.4216,rs10845981,1(T),"0.0,0.0,0.001,0.0(B,B,B,B)",0(N),-1.0502(T),,chr12,7966958,7966958,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly506Glu/c.1517G>A|520|SLC2A14|protein_coding|CODING|NM_001286233.1|16|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly483Glu/c.1448G>A|497|SLC2A14|protein_coding|CODING|NM_001286234.1|11|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly483Glu/c.1448G>A|497|SLC2A14|protein_coding|CODING|NM_001286235.1|13|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly397Glu/c.1190G>A|411|SLC2A14|protein_coding|CODING|NM_001286236.1|10|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly521Glu/c.1562G>A|535|SLC2A14|protein_coding|CODING|NM_001286237.1|10|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly506Glu/c.1517G>A|520|SLC2A14|protein_coding|CODING|NM_153449.3|12|1)","HUVEC:H3K27me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.2965,0.2421,0.2674,0.22,0.11,0.27,,0.242123(N),0.000(P),"-1.46,-1.5,-1.46,-1.22,-1.5,-1.69,-1.69,-1.49(T,D,T,T,D,D,D,T)",0.0000(T),0.059,-1.344877,3.71,2.54,-1.777000,0.019000,2.648000,0.004000,0.537000,1.000000,6.9472
synonymous_variant,SLC2A14,SILENT,NM_001286237.1:p.Leu12Leu/c.36C>G,ctC/ctG,LOW,,0.820088,0.8313,rs7297809,,,,,,chr12,8043688,8043688,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu12Leu/c.36C>G|535|SLC2A14|protein_coding|CODING|NM_001286237.1|1|1),"HepG2:H3K4me2,HeLa-S3:DNase1,HUVEC:H3K27me3,HeLa-S3:Jund,H1ESC:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HepG2:HNF4G,HepG2:HEY1,H1ESC:H4K5ac,NH-A:DNase1,HSMM:DNase1,HepG2:HNF4A,HepG2:H3K4me3,HepG2:FOSL2,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,HepG2:Jund,NHEK:DNase1,K562:DNase1",,,,0.7669,0.7651,0.7763,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC2A3,SILENT,NM_006931.2:p.Thr436Thr/c.1308C>T,acC/acT,LOW,COSM3753504(1),0.327676,0.1825,rs25684,,,,,,chr12,8074192,8074192,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr436Thr/c.1308C>T|496|SLC2A3|protein_coding|CODING|NM_006931.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.317,0.3804,0.5,0.42,0.31,0.48,,,,,,,,,,,,,,,,
missense_variant,SLC2A3,MISSENSE,NM_006931.2:p.Ser55Thr/c.163T>A,Tct/Act,MODERATE,,0.000599042,0,rs141717200,0.34(T),0.012(B),0.74(N),-0.8454(T),,chr12,8085689,8085689,A,T,het,missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser55Thr/c.163T>A|496|SLC2A3|protein_coding|CODING|NM_006931.2|3|1),"NHEK:CTCF,H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0,0.0029,0.001,0.00,0.00,0.00,,0.225348(N),1.000(N),"-0.83,-2.13(T,D)",0.2607(T),0.086,1.413123,4.17,-8.34,-0.695000,-1.422000,-0.063000,0.001000,0.000000,0.001000,8.7378
missense_variant,CLEC4A,MISSENSE,NM_016184.3:p.His36Leu/c.107A>T,cAc/cTc,MODERATE,,0.509585,0.5208,rs2024301,0.49(T),"0.714,0.602(P,P)",1.65(L),-0.9322(T),,chr12,8278181,8278181,A,T,hom,"missense_variant(MODERATE|MISSENSE|cAc/cTc|p.His36Leu/c.107A>T|237|CLEC4A|protein_coding|CODING|NM_016184.3|2|1),missense_variant(MODERATE|MISSENSE|cAc/cTc|p.His36Leu/c.107A>T|204|CLEC4A|protein_coding|CODING|NM_194450.2|2|1),intron_variant(MODIFIER|||c.82+1625A>T|198|CLEC4A|protein_coding|CODING|NM_194447.2|1|1),intron_variant(MODIFIER|||c.82+1625A>T|165|CLEC4A|protein_coding|CODING|NM_194448.2|1|1)",,,,,0.5297,0.5216,0.6789,0.58,0.40,0.67,,,1.000(P),"5.47,5.26,0.78(T,T,T)",0.0000(T),0.365,0.647192,3.89,-1.34,0.533000,-0.227000,0.306000,0.093000,0.000000,0.005000,3.8679
missense_variant,FAM90A1,MISSENSE,NM_018088.3:p.Thr348Ile/c.1043C>T,aCa/aTa,MODERATE,,0.986821,1,rs9668474,0.37(T),0.0(B),0(N),-1.0614(T),,chr12,8374770,8374770,G,A,hom,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr348Ile/c.1043C>T|464|FAM90A1|protein_coding|CODING|NM_018088.3|7|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.999,0.99,0.96,1.00,,,1.000(P),"2.78,2.78(T,T)",0.0000(T),0.038,-0.250430,1.02,1.02,-1.220000,-0.093000,-0.679000,0.002000,0.001000,0.000000,3.1441
missense_variant,CLEC4D,MISSENSE,NM_080387.4:p.Ser32Gly/c.94A>G,Agt/Ggt,MODERATE,COSM4147501(1),0.300319,0.122,rs4304840,0.2(T),0.001(B),1.355(L),-1.0009(T),,chr12,8667897,8667897,A,G,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser32Gly/c.94A>G|215|CLEC4D|protein_coding|CODING|NM_080387.4|2|1),HUVEC:H3K27me3,,,,0.226,0.1844,0.2475,0.34,0.55,0.23,,,1.000(P),"3.43,3.7(T,T)",0.0000(T),0.08,-1.119811,3.36,-0.299,-1.335000,-0.089000,-0.178000,0.003000,0.321000,0.031000,7.1227
synonymous_variant,AICDA,SILENT,NM_020661.2:p.His155His/c.465C>T,caC/caT,LOW,,0.484225,0.4812,rs2028373,,,,-0.9659(T),,chr12,8757481,8757481,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His155His/c.465C>T|198|AICDA|protein_coding|CODING|NM_020661.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5102,0.6484,0.6203,0.55,0.34,0.64,,,0.508(P),,0.0000(T),.,-1.128682,5.44,-0.239,-0.972000,-0.198000,-0.168000,0.234000,0.124000,0.002000,0.4794
synonymous_variant,RIMKLB,SILENT,NM_001297776.1:p.Asp264Asp/c.792T>C,gaT/gaC,LOW,,0.998403,1,rs2969089,,,,,,chr12,8926011,8926011,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp264Asp/c.792T>C|386|RIMKLB|protein_coding|CODING|NM_001297776.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp264Asp/c.792T>C|386|RIMKLB|protein_coding|CODING|NM_020734.3|6|1),non_coding_exon_variant(MODIFIER|||n.990T>C||RIMKLB||CODING|NR_123740.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,A2ML1,SILENT,NM_144670.4:p.Val425Val/c.1275A>G,gtA/gtG,LOW,COSM3753526(1),0.0373403,0.001,rs7308106,,,,,,chr12,8995756,8995756,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val425Val/c.1275A>G|1454|A2ML1|protein_coding|CODING|NM_144670.4|12|1),upstream_gene_variant(MODIFIER||1844||963|A2ML1|protein_coding|CODING|NM_001282424.1||1)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0204,0.0706,0.1103,0.08,0.02,0.10,,,,,,,,,,,,,,,,
synonymous_variant,A2ML1,SILENT,NM_144670.4:p.Pro789Pro/c.2367G>A,ccG/ccA,LOW,COSM1364786(1),0.868211,1,rs1860927,,,,,,chr12,9004512,9004512,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro298Pro/c.894G>A|963|A2ML1|protein_coding|CODING|NM_001282424.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro789Pro/c.2367G>A|1454|A2ML1|protein_coding|CODING|NM_144670.4|19|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9744,0.9006,0.838,0.81,0.74,0.84,,,,,,,,,,,,,,,,
missense_variant,A2ML1,MISSENSE,NM_144670.4:p.Asp850Glu/c.2550C>A,gaC/gaA,MODERATE,,0.966054,1,rs1860926,1(T),0.0(B),-1.545(N),-0.9889(T),,chr12,9004892,9004892,C,A,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp359Glu/c.1077C>A|963|A2ML1|protein_coding|CODING|NM_001282424.1|9|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp850Glu/c.2550C>A|1454|A2ML1|protein_coding|CODING|NM_144670.4|20|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9856,1,0.96,0.89,1.00,,0.000283(N),1.000(P),"1.84,1.84,1.84(T,T,T)",0.0000(T),0.051,-1.902615,3.22,2.02,-0.525000,0.125000,0.231000,0.009000,0.998000,0.875000,6.0875
missense_variant,A2ML1,MISSENSE,NM_144670.4:p.Cys970Tyr/c.2909G>A,tGt/tAt,MODERATE,COSM3753527(1),0.111222,0,rs1558526,0(D),0.999(D),3.74(H),-1.1102(T),,chr12,9009820,9009820,G,A,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys479Tyr/c.1436G>A|963|A2ML1|protein_coding|CODING|NM_001282424.1|13|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys970Tyr/c.2909G>A|1454|A2ML1|protein_coding|CODING|NM_144670.4|24|1)","H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.138,0.1888,0.2684,0.19,0.05,0.26,,0.000017(D),0.006(P),"-1.53,-1.53,-1.53(D,D,D)",0.0002(T),0.815,3.286741,3.73,1.81,0.462000,0.333000,5.380000,0.971000,1.000000,1.000000,7.8364
synonymous_variant,A2ML1,SILENT,NM_144670.4:p.Val1079Val/c.3237G>A,gtG/gtA,LOW,COSM147419(3),0.254393,0.1696,rs11612600,,,,,,chr12,9010671,9010671,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val588Val/c.1764G>A|963|A2ML1|protein_coding|CODING|NM_001282424.1|15|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1079Val/c.3237G>A|1454|A2ML1|protein_coding|CODING|NM_144670.4|26|1)","H1ESC:H3K36me3,NHEK:H3K36me3",,,,0.3262,0.2305,0.3648,0.31,0.21,0.35,,,,,,,,,,,,,,,,
missense_variant,A2ML1,MISSENSE,NM_144670.4:p.Ala1190Val/c.3569C>T,gCg/gTg,MODERATE,,0.0225639,0,rs73040625,0.13(T),0.066(B),0.32(N),-1.0383(T),,chr12,9016456,9016456,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala699Val/c.2096C>T|963|A2ML1|protein_coding|CODING|NM_001282424.1|18|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1190Val/c.3569C>T|1454|A2ML1|protein_coding|CODING|NM_144670.4|29|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0112,0.0375,0.0736,0.06,0.01,0.08,,0.050561(N),1.000(N),"1.2,1.2,1.2(T,T,T)",0.0040(T),0.03,1.286592,4.39,-1.35,-2.756000,-0.242000,-0.559000,0.457000,0.001000,0.000000,8.9867
missense_variant,A2ML1,MISSENSE,NM_144670.4:p.His1229Arg/c.3686A>G,cAc/cGc,MODERATE,,0.967851,1,rs10219561,0.13(T),0.0(B),-2.695(N),-0.9386(T),,chr12,9016573,9016573,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His738Arg/c.2213A>G|963|A2ML1|protein_coding|CODING|NM_001282424.1|18|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1229Arg/c.3686A>G|1454|A2ML1|protein_coding|CODING|NM_144670.4|29|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9885,1,0.97,0.90,1.00,,0.276558(N),1.000(P),"1.47,1.47,1.47(T,T,T)",0.0000(T),0.085,0.788166,4.31,-1.05,-0.186000,-0.341000,1.303000,0.951000,0.191000,0.930000,10.5194
missense_variant,A2ML1,MISSENSE,NM_144670.4:p.Met1257Val/c.3769A>G,Atg/Gtg,MODERATE,,0.852636,1,rs7308811,0.17(T),0.0(B),-1.1(N),-0.9314(T),,chr12,9020489,9020489,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met766Val/c.2296A>G|963|A2ML1|protein_coding|CODING|NM_001282424.1|19|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1257Val/c.3769A>G|1454|A2ML1|protein_coding|CODING|NM_144670.4|30|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9734,0.9035,0.8429,0.78,0.65,0.84,,0.057503(N),1.000(P),"1.63,1.74,2.29(T,T,T)",0.0000(T),0.033,-1.509373,3.63,-0.406,-0.366000,-0.090000,-0.082000,0.067000,0.000000,0.000000,7.3387
synonymous_variant,A2ML1,SILENT,NM_144670.4:p.Gln1340Gln/c.4020A>G,caA/caG,LOW,COSM1364799(3),0.677716,0.5427,rs1476910,,,,,,chr12,9020912,9020912,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln849Gln/c.2547A>G|963|A2ML1|protein_coding|CODING|NM_001282424.1|20|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln1340Gln/c.4020A>G|1454|A2ML1|protein_coding|CODING|NM_144670.4|31|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7843,0.6758,0.7734,0.75,0.64,0.79,,,,,,,,,,,,,,,,
synonymous_variant,PHC1,SILENT,NM_004426.2:p.Leu31Leu/c.93T>A,ctT/ctA,LOW,,0.6877,0.749,rs4883198,,,,,,chr12,9070366,9070366,T,A,hom,synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu31Leu/c.93T>A|1004|PHC1|protein_coding|CODING|NM_004426.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8538,0.5908,0.7167,0.68,0.60,0.73,,,,,,,,,,,,,,,,
synonymous_variant,PHC1,SILENT,NM_004426.2:p.Pro123Pro/c.369C>T,ccC/ccT,LOW,,0.633387,0.7202,rs1805741,,,,,,chr12,9074259,9074259,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro123Pro/c.369C>T|1004|PHC1|protein_coding|CODING|NM_004426.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8528,0.5764,0.7078,,,,,,,,,,,,,,,,,,,
synonymous_variant,PHC1,SILENT,NM_004426.2:p.Lys662Lys/c.1986G>A,aaG/aaA,LOW,,0.140974,0.0129,rs1805773,,,,-1.0900(T),,chr12,9086553,9086553,G,A,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys662Lys/c.1986G>A|1004|PHC1|protein_coding|CODING|NM_004426.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.1442,0.1311,0.167,0.18,0.21,0.17,,,0.000(P),,0.0001(T),.,0.664728,5.7,5.7,0.655000,2.703000,4.402000,0.951000,1.000000,1.000000,12.0036
missense_variant,PHC1,MISSENSE,NM_004426.2:p.Arg911His/c.2732G>A,cGt/cAt,MODERATE,,0.0625,0.005,rs1049948,0.01(D),0.906(P),1.175(L),-1.0256(T),,chr12,9090528,9090528,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg911His/c.2732G>A|1004|PHC1|protein_coding|CODING|NM_004426.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:Nrsf,HepG2:H3K36me3,H1ESC:Nrsf,GM06990:H3K36me3",,,,0.089,0.0663,0.0944,0.08,0.06,0.09,,0.000002(D),0.001(P),"1.63,1.63,1.61,1.63,0.71(T,T,T,T,T)",0.0124(T),0.465,3.284150,5.29,5.29,0.655000,2.463000,3.566000,0.829000,0.999000,0.999000,18.5404
missense_variant,A2M,MISSENSE,NM_000014.4:p.Asn639Asp/c.1915A>G,Aat/Gat,MODERATE,,0.997804,1,rs226405,0.65(T),0.0(B),-0.405(N),-1.0180(T),,chr12,9248233,9248233,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn639Asp/c.1915A>G|1474|A2M|protein_coding|CODING|NM_000014.4|16|1),"IMR90:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,1,1,1,1.00,0.99,1.00,,0.084324(N),1.000(P),1.67(T),0.0000(T),0.042,-0.576908,5.43,-6.26,-1.804000,-1.529000,-1.810000,0.001000,0.000000,0.000000,2.4353
synonymous_variant,A2M,SILENT,NM_000014.4:p.Tyr432Tyr/c.1296C>T,taC/taT,LOW,,0.0349441,0.001,rs2228222,,,,,,chr12,9254241,9254241,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr432Tyr/c.1296C>T|1474|A2M|protein_coding|CODING|NM_000014.4|12|1),"HUVEC:H3K27me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0849,0.0317,0.0676,0.05,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,PZP,SILENT,NM_002864.2:p.Gln1356Gln/c.4068A>G,caA/caG,LOW,COSM4147515(2),0.655152,0.8899,rs10771357,,,,,,chr12,9305473,9305473,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln1356Gln/c.4068A>G|1482|PZP|protein_coding|CODING|NM_002864.2|31|1),"HUVEC:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K36me3",,,,0.6472,0.5937,0.6322,0.60,0.55,0.63,,,,,,,,,,,,,,,,
missense_variant,PZP,MISSENSE,NM_002864.2:p.Thr1205Pro/c.3613A>C,Acc/Ccc,MODERATE,,0.983427,1,rs2377741,1(T),"0.0,0.0(B,B)",-2.865(N),-0.9046(T),,chr12,9307373,9307373,T,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr1205Pro/c.3613A>C|1482|PZP|protein_coding|CODING|NM_002864.2|29|1),NHEK:H3K27me3,,,,1,0.9957,1,0.98,0.93,1.00,,0.576540(N),1.000(P),"1.28,1.28(T,T)",0.0000(T),0.038,-1.803272,4.03,0.627,-0.215000,0.065000,0.176000,0.523000,0.039000,0.203000,1.6171
missense_variant,PZP,MISSENSE,NM_002864.2:p.Thr1003Met/c.3008C>T,aCg/aTg,MODERATE,,0.270767,0.4762,rs57006764,0(D),"0.951,0.996(D,D)",3.11(M),-0.9677(T),,chr12,9312951,9312951,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1003Met/c.3008C>T|1482|PZP|protein_coding|CODING|NM_002864.2|24|1),,,,,0.2894,0.2695,0.1909,0.17,0.16,0.17,,0.000182(U),0.983(P),"1.04,1.04(T,T)",0.0000(T),0.13,1.514300,4.56,3.67,0.563000,1.044000,2.458000,0.009000,0.031000,0.993000,8.6441
missense_variant,PZP,MISSENSE,NM_002864.2:p.Val813Ala/c.2438T>C,gTc/gCc,MODERATE,,0.386182,0.5357,rs200958196,1(T),"0.002,0.013,0.002(B,B,B)",-0.555(N),-0.9396(T),,chr12,9317784,9317784,A,G,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val813Ala/c.2438T>C|1482|PZP|protein_coding|CODING|NM_002864.2|19|1),GM06990:H3K27me3,,,,0.4407,0.2421,0.3419,0.31,0.33,0.29,,0.388670(N),1.000(P),"1.83,1.83(T,T)",0.0000(T),0.025,-2.442208,3.7,-0.929,-1.483000,0.004000,-1.395000,0.212000,0.990000,0.000000,3.0317
missense_variant,PZP,MISSENSE,NM_002864.2:p.Val691Met/c.2071G>A,Gtg/Atg,MODERATE,,0.0942492,0.0476,rs3213832,0.24(T),"0.0,0.003,0.0(B,B,B)",0.345(N),-1.0535(T),,chr12,9321501,9321501,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val691Met/c.2071G>A|1482|PZP|protein_coding|CODING|NM_002864.2|17|1),,,,,0.1012,0.036,0.0636,0.09,0.15,0.06,,0.000025(U),1.000(P),"1.53,1.33(T,T)",0.0002(T),0.047,-0.682213,1.69,-2.88,-1.458000,-0.588000,-1.232000,0.000000,0.000000,0.000000,6.16
synonymous_variant,PZP,SILENT,NM_002864.2:p.Gly439Gly/c.1317T>C,ggT/ggC,LOW,,0.874401,0.9762,rs10771407,,,,,,chr12,9345273,9345273,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly439Gly/c.1317T>C|1482|PZP|protein_coding|CODING|NM_002864.2|12|1),,,,,0.9223,0.9395,0.9274,0.85,0.72,0.92,,,,,,,,,,,,,,,,
missense_variant,PZP,MISSENSE,NM_002864.2:p.Leu379Val/c.1135C>G,Ctc/Gtc,MODERATE,COSM4147518(1),0.277756,0.3819,rs12230214,0.47(T),"0.032,0.001(B,B)",0.235(N),-0.9325(T),,chr12,9346792,9346792,G,C,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu379Val/c.1135C>G|1482|PZP|protein_coding|CODING|NM_002864.2|11|1),,,,,0.2945,0.232,0.3072,0.25,0.18,0.28,,0.659789(U),1.000(P),"1.56,1.36(T,T)",0.0000(T),0.015,-0.808602,3.53,0.366,-0.319000,-0.038000,-0.997000,0.469000,0.009000,0.000000,2.4418
missense_variant,KLRB1,MISSENSE,NM_002258.2:p.Ile168Thr/c.503T>C,aTa/aCa,MODERATE,,0.403954,0.5317,rs1135816,0.03(D),0.802(P),1.31(L),-0.9211(T),,chr12,9750669,9750669,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile168Thr/c.503T>C|225|KLRB1|protein_coding|CODING|NM_002258.2|5|1),,,,,0.5317,0.5029,0.4205,0.34,0.17,0.43,,0.004749(N),0.948(P),1.76(T),0.0000(T),0.093,1.802709,3.06,1.91,0.533000,0.577000,2.636000,0.562000,0.984000,1.000000,4.8209
missense_variant,CLEC2A,MISSENSE,NM_001130711.1:p.Gly136Asp/c.407G>A,gGt/gAt,MODERATE,COSM467639(2),0.525759,0.3085,rs526680,0.32(T),"0.003,0.005(B,B)",0.735(N),-0.9870(T),,chr12,10069302,10069302,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly136Asp/c.407G>A|174|CLEC2A|protein_coding|CODING|NM_001130711.1|4|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly136Asp/c.407G>A|160|CLEC2A|protein_coding|CODING|NM_207375.2|4|1)",HUVEC:H3K27me3,,,,0.6063,0.5403,0.675,0.63,0.57,0.66,,0.508105(N),1.000(P),"2.32,2.32(T,T)",0.0000(T),0.046,-0.333368,3.14,-4.9,-0.550000,-1.547000,-2.317000,0.005000,0.000000,0.000000,6.3027
synonymous_variant,CLEC12A,SILENT,NM_001207010.1:p.His75His/c.225C>T,caC/caT,LOW,COSM3721270(2),0.193291,0.2222,rs536947,,,,,,chr12,10131939,10131939,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His75His/c.225C>T|275|CLEC12A|protein_coding|CODING|NM_001207010.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His65His/c.195C>T|213|CLEC12A|protein_coding|CODING|NM_001300730.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His65His/c.195C>T|265|CLEC12A|protein_coding|CODING|NM_138337.5|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His32His/c.96C>T|232|CLEC12A|protein_coding|CODING|NM_201623.3|2|1)",,,,,0.3548,0.1167,0.1829,0.14,0.09,0.16,,,,,,,,,,,,,,,,
missense_variant,CLEC12A,MISSENSE,NM_001207010.1:p.Lys254Gln/c.760A>C,Aaa/Caa,MODERATE,,0.73742,0.8998,rs111169197,0.29(T),"0.032,0.021,0.012(B,B,B)",1.01(L),-1.0717(T),,chr12,10137557,10137557,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys254Gln/c.760A>C|275|CLEC12A|protein_coding|CODING|NM_001207010.1|7|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys244Gln/c.730A>C|265|CLEC12A|protein_coding|CODING|NM_138337.5|6|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys211Gln/c.631A>C|232|CLEC12A|protein_coding|CODING|NM_201623.3|5|1),downstream_gene_variant(MODIFIER||716||213|CLEC12A|protein_coding|CODING|NM_001300730.1||1)",,,,,0.8538,0.6686,0.5994,0.64,0.64,0.63,,,1.000(P),"2.24,2.24,2.24(T,T,T)",0.0000(T),0.042,0.191087,4.04,-8.09,-2.835000,-2.272000,-0.293000,0.000000,0.000000,0.000000,8.0574
missense_variant,CLEC1B,MISSENSE,NM_016509.3:p.Gly64Asp/c.191G>A,gGt/gAt,MODERATE,,0.984824,1,rs583903,,"0.0,0.001(B,B)",0(N),-1.0639(T),,chr12,10149851,10149851,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly31Asp/c.92G>A|196|CLEC1B|protein_coding|CODING|NM_001099431.1|2|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly64Asp/c.191G>A|229|CLEC1B|protein_coding|CODING|NM_016509.3|3|1)","GM12878:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3",,,,1,0.9957,1,0.99,0.95,1.00,,0.366894(N),1.000(P),"4.94,5.06,4.94(T,T,T)",0.0000(T),0.019,-2.120702,3.78,-2.33,-1.726000,-0.808000,-0.745000,0.011000,0.000000,0.000000,0.2491
missense_variant,CLEC1B,MISSENSE,NM_016509.3:p.Ile20Val/c.58A>G,Atc/Gtc,MODERATE,,0.98742,1,rs612593,0.41(T),"0.002,0.0(B,B)",0.805(L),-1.0375(T),,chr12,10151642,10151642,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile20Val/c.58A>G|196|CLEC1B|protein_coding|CODING|NM_001099431.1|1|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile20Val/c.58A>G|229|CLEC1B|protein_coding|CODING|NM_016509.3|1|1)","GM12878:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3",,,,1,0.9986,1,0.99,0.96,1.00,,0.685046(N),1.000(P),"4.89,5.05,4.89(T,T,T)",0.0000(T),0.008,-0.657421,5.67,-5.22,-1.050000,-1.318000,-0.354000,0.025000,0.001000,0.001000,0.4547
synonymous_variant,CLEC12B,SILENT,NM_001129998.1:p.Thr59Thr/c.177A>G,acA/acG,LOW,,0.939497,0.9792,rs476474,,,,,,chr12,10165469,10165469,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr59Thr/c.177A>G|276|CLEC12B|protein_coding|CODING|NM_001129998.1|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr59Thr/c.177A>G|232|CLEC12B|protein_coding|CODING|NM_205852.2|2|1)",GM12878:H3K27me3,,,,0.9305,0.9582,0.9225,0.91,0.89,0.92,,,,,,,,,,,,,,,,
missense_variant,CLEC12B,MISSENSE,NM_001129998.1:p.Val116Leu/c.346G>C,Gta/Cta,MODERATE,,0.939097,0.9782,rs637790,1(T),"0.0,0.0(B,B)",-2.255(N),-0.9733(T),,chr12,10167277,10167277,G,C,het,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val116Leu/c.346G>C|276|CLEC12B|protein_coding|CODING|NM_001129998.1|3|1),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val116Leu/c.346G>C|232|CLEC12B|protein_coding|CODING|NM_205852.2|3|1),downstream_gene_variant(MODIFIER||674|||LOC102724020||NON_CODING|NR_120484.1||1)",,,,,0.9294,0.9582,0.9225,0.91,0.89,0.91,,0.017181(N),1.000(P),"1.5,1.5(T,T)",0.0000(T),0.033,-1.247740,4.13,3.14,-0.357000,1.065000,1.109000,0.686000,0.011000,0.071000,9.9161
synonymous_variant,CLEC9A,SILENT,NM_207345.2:p.Thr49Thr/c.147A>G,acA/acG,LOW,COSM3752843(2),0.373802,0.2123,rs7315231,,,,,,chr12,10206925,10206925,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr49Thr/c.147A>G|241|CLEC9A|protein_coding|CODING|NM_207345.2|5|1),,,,,0.3292,0.5231,0.6759,0.55,0.29,0.69,,,,,,,,,,,,,,,,
missense_variant,CLEC1A,MISSENSE,NM_016511.3:p.Gly26Ala/c.77G>C,gGc/gCc,MODERATE,COSM147434(2),0.670527,0.3502,rs2306894,0.83(T),"0.0,0.0,0.0(B,B,B)",-1.23(N),-0.9809(T),,chr12,10251445,10251445,C,G,hom,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly26Ala/c.77G>C|247|CLEC1A|protein_coding|CODING|NM_001297748.1|1|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly26Ala/c.77G>C|188|CLEC1A|protein_coding|CODING|NM_001297749.1|1|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly26Ala/c.77G>C|280|CLEC1A|protein_coding|CODING|NM_016511.3|1|1),5_prime_UTR_variant(MODIFIER||17483|c.-286G>C|192|CLEC1A|protein_coding|CODING|NM_001297750.1|1|1),5_prime_UTR_variant(MODIFIER||17483|c.-230G>C|192|CLEC1A|protein_coding|CODING|NM_001297751.1|1|1)","HUVEC:H3K4me3,HUVEC:PolII,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:DNase1,HUVEC:DNase1,HUVEC:H3K4me2,K562:H3K27me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.5429,0.6009,0.8728,0.89,0.90,0.88,,0.034957(N),1.000(P),"5.12,5.49,5.02,1.11(T,T,T,T)",0.0000(T),0.159,-0.539636,5.55,4.66,-0.127000,0.715000,0.958000,0.144000,0.001000,0.265000,7.8886
missense_variant,KLRD1,MISSENSE,NM_001114396.1:p.Ser25Ala/c.73T>G,Tct/Gct,MODERATE,,0.935503,1,rs10772256,1(T),"0.0,0.0,0.0(B,B,B)",-1.435(N),-0.9944(T),,chr12,10462052,10462052,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser25Ala/c.73T>G|179|KLRD1|protein_coding|CODING|NM_001114396.1|3|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser25Ala/c.73T>G|179|KLRD1|protein_coding|CODING|NM_002262.3|2|1),intron_variant(MODIFIER|||c.8-173T>G|148|KLRD1|protein_coding|CODING|NM_007334.2|1|1)","NH-A:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,0.9813,1,0.92,0.77,1.00,,0.997810(N),1.000(P),"1.03,1.03,1.03,1.03,2.33(T,T,T,T,T)",0.0000(T),0.028,-1.126025,4.82,-3.77,-0.935000,-1.367000,-0.122000,0.001000,0.000000,0.000000,5.1735
synonymous_variant,KLRC4-KLRK1,SILENT,NM_001199805.1:p.Thr208Thr/c.624G>A,acG/acA,LOW,COSM3752857(1),0.714457,0.872,rs1049172,,,,,,chr12,10525740,10525740,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr208Thr/c.624G>A|216|KLRC4-KLRK1|protein_coding|CODING|NM_001199805.1|13|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr208Thr/c.624G>A|216|KLRK1|protein_coding|CODING|NM_007360.3|8|1),intron_variant(MODIFIER|||n.266-894C>T||LOC101928100||NON_CODING|NR_120430.1|1|1)",NHEK:H3K36me3,,,,0.8579,0.7723,0.7048,0.63,0.50,0.70,,,,,,,,,,,,,,,,
missense_variant,KLRC4-KLRK1,MISSENSE,NM_001199805.1:p.Thr72Ala/c.214A>G,Aca/Gca,MODERATE,COSM430206(1),0.76238,0.7857,rs2255336,0.53(T),0.003(B),,-1.0974(T),,chr12,10532326,10532326,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr72Ala/c.214A>G|216|KLRC4-KLRK1|protein_coding|CODING|NM_001199805.1|9|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr72Ala/c.214A>G|216|KLRK1|protein_coding|CODING|NM_007360.3|4|1),non_coding_exon_variant(MODIFIER|||n.393T>C||LOC101928100||NON_CODING|NR_120430.1|3|1)","K562:H3K36me3,NHEK:H3K36me3",,,,0.91,0.8401,0.8171,0.72,0.58,0.80,,0.226130(N),1.000(P),"4.91,4.91(T,T)",0.0000(T),0.018,2.441146,5.12,-1.42,-0.344000,-0.060000,-0.809000,0.100000,0.000000,0.000000,2.7602
missense_variant,KLRC4,MISSENSE,NM_013431.2:p.Asn104Ser/c.311A>G,aAt/aGt,MODERATE,COSM1358386(4),0.556709,0.5496,rs2617170,0.45(T),0.063(B),1.935(M),-1.0255(T),,chr12,10560957,10560957,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn104Ser/c.311A>G|158|KLRC4|protein_coding|CODING|NM_013431.2|3|1),5_prime_UTR_variant(MODIFIER||19548|c.-364A>G|216|KLRC4-KLRK1|protein_coding|CODING|NM_001199805.1|3|1)",,Behcet_s_disease,,,0.544,0.6671,0.663,0.61,0.48,0.68,,0.159163(N),1.000(P),2.92(T),0.0000(T),0.018,1.135782,2.89,2.89,0.477000,1.567000,1.074000,0.009000,0.004000,0.001000,7.5748
synonymous_variant,KLRC4,SILENT,NM_013431.2:p.Ser50Ser/c.150G>A,tcG/tcA,LOW,COSM3752861(1),0.49401,0.5605,rs1841957,,,,,,chr12,10562025,10562025,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser50Ser/c.150G>A|158|KLRC4|protein_coding|CODING|NM_013431.2|1|1),intron_variant(MODIFIER|||c.-487-416G>A|216|KLRC4-KLRK1|protein_coding|CODING|NM_001199805.1|1|1)",K562:DNase1,,,,0.5409,0.6311,0.663,0.55,0.29,0.68,,,,,,,,,,,,,,,,
missense_variant,KLRC4,MISSENSE,NM_013431.2:p.Ile29Ser/c.86T>G,aTc/aGc,MODERATE,COSM3752862(1),0.737021,0.7431,rs1841958,1(T),0.0(B),-2.71(N),-0.9644(T),,chr12,10562089,10562089,A,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile29Ser/c.86T>G|158|KLRC4|protein_coding|CODING|NM_013431.2|1|1),intron_variant(MODIFIER|||c.-487-480T>G|216|KLRC4-KLRK1|protein_coding|CODING|NM_001199805.1|1|1)","HeLa-S3:DNase1,HeLa-S3:Max,K562:DNase1",,,,0.8548,0.8012,0.6789,0.67,0.65,0.68,,0.598017(N),1.000(P),3.62(T),0.0000(T),0.26,-1.951907,3.78,-1.6,-2.648000,-0.540000,-0.559000,0.001000,0.000000,0.000000,0.1569
missense_variant,KLRC3,MISSENSE,NM_007333.2:p.Cys155Ser/c.464G>C,tGt/tCt,MODERATE,,0.986821,1,rs2682495,0.46(T),"0.002,0.0,0.0(B,B,B)",-2.045(N),-1.0133(T),,chr12,10570965,10570965,C,G,hom,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys155Ser/c.464G>C|240|KLRC3|protein_coding|CODING|NM_002261.2|4|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys155Ser/c.464G>C|257|KLRC3|protein_coding|CODING|NM_007333.2|4|1)",HUVEC:H3K27me3,,,,1,0.9928,1,0.99,0.96,1.00,,0.906816(N),1.000(P),"2.7,2.7,2.7,2.7(T,T,T,T)",0.0000(T),0.037,-2.145051,2.34,-0.134,-1.612000,-0.361000,-0.466000,0.008000,0.005000,0.000000,3.1567
synonymous_variant,KLRC3,SILENT,NM_007333.2:p.Tyr129Tyr/c.387T>C,taT/taC,LOW,,0.986621,1,rs2741882,,,,,,chr12,10571042,10571042,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr129Tyr/c.387T>C|240|KLRC3|protein_coding|CODING|NM_002261.2|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr129Tyr/c.387T>C|257|KLRC3|protein_coding|CODING|NM_007333.2|4|1)",HUVEC:H3K27me3,,,,1,0.9928,0.999,,,,,,,,,,,,,,,,,,,
missense_variant,KLRC3,MISSENSE,NM_007333.2:p.His113Pro/c.338A>C,cAt/cCt,MODERATE,,0.986222,1,rs2682494,0.25(T),"0.029,0.007,0.357(B,B,B)",1.81(L),-0.9836(T),,chr12,10571091,10571091,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His113Pro/c.338A>C|240|KLRC3|protein_coding|CODING|NM_002261.2|4|1),missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His113Pro/c.338A>C|257|KLRC3|protein_coding|CODING|NM_007333.2|4|1)",HUVEC:H3K27me3,,,,1,0.9914,0.998,,,,,0.794797(N),1.000(P),"3.53,3.53,3.53,3.53(T,T,T,T)",0.0000(T),0.282,0.500279,2.38,-0.244,-0.538000,-0.045000,-0.816000,0.002000,0.000000,0.000000,6.679
synonymous_variant,KLRC3,SILENT,NM_007333.2:p.Glu69Glu/c.207A>G,gaA/gaG,LOW,,,,rs143188402,,,,,,chr12,10572544,10572544,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu69Glu/c.207A>G|240|KLRC3|protein_coding|CODING|NM_002261.2|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu69Glu/c.207A>G|257|KLRC3|protein_coding|CODING|NM_007333.2|2|1)",HeLa-S3:H3K4me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KLRC3,SILENT,NM_007333.2:p.Asp56Asp/c.168T>C,gaT/gaC,LOW,,0.986821,1,rs2741881,,,,,,chr12,10572982,10572982,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp56Asp/c.168T>C|240|KLRC3|protein_coding|CODING|NM_002261.2|1|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp56Asp/c.168T>C|257|KLRC3|protein_coding|CODING|NM_007333.2|1|1)","HeLa-S3:DNase1,HUVEC:DNase1,HeLa-S3:H3K4me3",,,,1,0.9928,1,0.98,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,KLRC3,MISSENSE,NM_007333.2:p.Trp19Ser/c.56G>C,tGg/tCg,MODERATE,COSM3752863(1),0.44349,0.5159,rs2682491,0.04(D),"0.0,0.0(B,B)",-0.695(N),-0.9841(T),,chr12,10573094,10573094,C,G,hom,"missense_variant(MODERATE|MISSENSE|tGg/tCg|p.Trp19Ser/c.56G>C|240|KLRC3|protein_coding|CODING|NM_002261.2|1|1),missense_variant(MODERATE|MISSENSE|tGg/tCg|p.Trp19Ser/c.56G>C|257|KLRC3|protein_coding|CODING|NM_007333.2|1|1)","HeLa-S3:DNase1,HeLa-S3:Max,HUVEC:DNase1,HSMM:DNase1,HeLa-S3:H3K4me3",,,,0.4765,0.5576,0.5785,,,,,0.108869(N),1.000(P),"3.66,3.66,3.66(T,T,T)",0.0000(T),0.131,0.139191,2.55,-0.201,0.585000,-0.060000,1.111000,0.002000,0.000000,0.001000,4.5619
missense_variant,KLRC3,MISSENSE,NM_007333.2:p.Trp19Arg/c.55T>C,Tgg/Cgg,MODERATE,,0.985623,0.999,rs2682490,1(T),"0.0,0.0(B,B)",-2.865(N),-1.0077(T),,chr12,10573095,10573095,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp19Arg/c.55T>C|240|KLRC3|protein_coding|CODING|NM_002261.2|1|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp19Arg/c.55T>C|257|KLRC3|protein_coding|CODING|NM_007333.2|1|1)","HeLa-S3:DNase1,HeLa-S3:Max,HUVEC:DNase1,HSMM:DNase1,HeLa-S3:H3K4me3",,,,1,0.9928,0.999,,,,,0.108869(N),1.000(P),"3.83,3.83,3.83(T,T,T)",0.0000(T),0.025,-2.526335,2.55,0.0938,-1.775000,-0.293000,-0.463000,0.001000,0.000000,0.000000,0.4864
missense_variant,KLRC2,MISSENSE,NM_002260.3:p.Phe102Ser/c.305T>C,tTt/tCt,MODERATE,,,,rs1141715,1(T),0.001(B),,-0.9845(T),,chr12,10587111,10587111,A,G,hom,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe102Ser/c.305T>C|231|KLRC2|protein_coding|CODING|NM_002260.3|3|1),HeLa-S3:H3K4me3,,,,,,,,,,,0.952118(N),1.000(P),"3.66,3.66,3.41(T,T,T)",0.0000(T),0.044,-2.576305,2.51,-3.67,-2.757000,-1.738000,-0.328000,0.005000,0.000000,0.000000,3.4046
missense_variant,KLRC2,MISSENSE,NM_002260.3:p.Arg19Pro/c.56G>C,cGg/cCg,MODERATE,COSM3752865(2),,,rs75545535,0.01(D),"0.796,0.88,0.971(P,P,D)",1.9(L),-0.9042(T),,chr12,10588530,10588530,C,G,het,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg19Pro/c.56G>C|231|KLRC2|protein_coding|CODING|NM_002260.3|1|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,HUVEC:DNase1,HSMM:DNase1,HeLa-S3:PolII,HeLa-S3:Cfos,HeLa-S3:H3K4me3,K562:DNase1",,,,,,,,,,,0.108869(N),1.000(N),"3.36,3.36,3.36(T,T,T)",0.0000(T),0.275,1.674672,2.57,-0.0579,0.184000,-0.169000,-0.155000,0.010000,0.000000,0.000000,4.9087
missense_variant,KLRC2,MISSENSE,NM_002260.3:p.Asn2Ser/c.5A>G,aAt/aGt,MODERATE,COSM3752866(2),,,rs28403159,0.2(T),0.012(B),,-0.8719(T),,chr12,10588581,10588581,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn2Ser/c.5A>G|231|KLRC2|protein_coding|CODING|NM_002260.3|1|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,HUVEC:DNase1,HSMM:DNase1,HeLa-S3:PolII,HeLa-S3:Cfos,HeLa-S3:H3K4me3,HMEC:DNase1,K562:DNase1",,,,,,,,,,,0.280349(N),0.752(N),"3.44,3.44,3.44(T,T,T)",0.0000(T),0.029,0.669331,2.38,-0.455,0.155000,0.056000,0.056000,0.236000,0.235000,0.009000,4.977
missense_variant,KLRC1,MISSENSE,NM_002259.4:p.Asn29Ser/c.86A>G,aAc/aGc,MODERATE,,0.987021,1,rs2253849,1(T),"0.0,0.0(B,B)",-1.315(N),-1.0206(T),,chr12,10603670,10603670,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn29Ser/c.86A>G|233|KLRC1|protein_coding|CODING|NM_002259.4|2|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn29Ser/c.86A>G|215|KLRC1|protein_coding|CODING|NM_007328.3|2|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn29Ser/c.86A>G|215|KLRC1|protein_coding|CODING|NM_213657.2|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn29Ser/c.86A>G|233|KLRC1|protein_coding|CODING|NM_213658.2|3|1)",,,,,1,0.9928,1,0.99,0.96,1.00,,0.355640(N),1.000(P),"3.66,3.66,3.66,3.66,3.66(T,T,T,T,T)",0.0000(T),0.042,-1.435018,3.96,3.06,-0.119000,0.412000,-0.019000,0.001000,0.000000,0.000000,7.1257
synonymous_variant,MAGOHB,SILENT,NM_018048.3:p.Val46Val/c.138C>G,gtC/gtG,LOW,,0.740815,0.9901,rs10845182,,,,,,chr12,10763236,10763236,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val46Val/c.138C>G|148|MAGOHB|protein_coding|CODING|NM_018048.3|2|1),5_prime_UTR_variant(MODIFIER||1|c.-1C>G|102|MAGOHB|protein_coding|CODING|NM_001300739.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8395,0.8184,0.7724,0.70,0.50,0.80,,,,,,,,,,,,,,,,
missense_variant,STYK1,MISSENSE,NM_018423.2:p.Ser204Gly/c.610A>G,Agc/Ggc,MODERATE,,0.598642,0.7917,rs3759259,0.03(D),0.01(B),0.34(N),-0.9549(T),,chr12,10782115,10782115,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser204Gly/c.610A>G|422|STYK1|protein_coding|CODING|NM_018423.2|6|1),"HUVEC:H3K36me3,HMEC:H3K36me3",,,,0.6217,0.7032,0.6431,0.52,0.38,0.59,,0.024770(N),0.999(P),-0.43(T),0.0000(T),0.175,1.490929,5.58,5.58,0.533000,2.244000,3.496000,0.988000,1.000000,1.000000,10.0973
missense_variant,TAS2R7,MISSENSE,NM_023919.2:p.Val196Glu/c.587T>A,gTg/gAg,MODERATE,,0.00459265,0,rs139604652,0(D),0.948(D),3.34(M),-1.0773(T),,chr12,10954583,10954583,A,T,het,missense_variant(MODERATE|MISSENSE|gTg/gAg|p.Val196Glu/c.587T>A|318|TAS2R7|protein_coding|CODING|NM_023919.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.0041,0.0115,0.0109,0.01,0.00,0.01,,0.020792(N),1.000(N),5.29(T),0.0143(T),0.578,1.671980,5.49,4.34,0.528000,1.083000,2.115000,0.001000,0.063000,0.042000,8.4574
missense_variant,TAS2R8,MISSENSE,NM_023918.1:p.Met308Val/c.922A>G,Atg/Gtg,MODERATE,,0.873403,1,rs2537817,1(T),0.0(B),0.69(N),-0.9221(T),,chr12,10958658,10958658,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met308Val/c.922A>G|309|TAS2R8|protein_coding|CODING|NM_023918.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.9796,0.951,0.997,0.87,0.64,0.99,,0.367240(N),1.000(P),5.85(T),0.0000(T),0.026,-1.791849,4.88,-9.75,-2.030000,-2.329000,-1.137000,0.000000,0.000000,0.000000,3.4554
synonymous_variant,TAS2R8,SILENT,NM_023918.1:p.Leu183Leu/c.549G>A,ttG/ttA,LOW,,0.503994,0.6448,rs1548803,,,,,,chr12,10959031,10959031,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu183Leu/c.549G>A|309|TAS2R8|protein_coding|CODING|NM_023918.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.592,0.5692,0.6789,0.48,0.23,0.60,,,,,,,,,,,,,,,,
missense_variant,TAS2R9,MISSENSE,NM_023917.2:p.Val187Ala/c.560T>C,gTg/gCg,MODERATE,,0.53095,0.7183,rs3741845,0.85(T),0.0(B),-1.07(N),-0.9683(T),,chr12,10962115,10962115,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val187Ala/c.560T>C|312|TAS2R9|protein_coding|CODING|NM_023917.2|1|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.5992,0.5749,0.6839,0.49,0.26,0.61,,0.950106(N),1.000(P),1.16(T),0.0000(T),0.047,-0.740210,3.94,-3.44,-2.499000,-0.834000,-3.109000,0.000000,0.000000,0.000000,7.5536
missense_variant,TAS2R10,MISSENSE,NM_023921.1:p.Thr156Met/c.467C>T,aCg/aTg,MODERATE,,0.942891,1,rs597468,0.25(T),0.001(B),-1.245(N),-0.9288(T),,chr12,10978402,10978402,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr156Met/c.467C>T|307|TAS2R10|protein_coding|CODING|NM_023921.1|1|1),,,,,0.9785,0.9841,0.997,0.94,0.83,1.00,,0.000024(N),1.000(P),1.18(T),0.0000(T),0.023,0.444652,4.82,-8.28,-1.475000,-1.587000,-3.532000,0.001000,0.000000,0.000000,3.9043
missense_variant,PRR4,MISSENSE,NM_007244.2:p.Gln120Arg/c.359A>G,cAg/cGg,MODERATE,COSM3752889(1),0.73742,0.9196,rs1047699,0.52(T),0.065(B),,-1.0432(T),,chr12,10999708,10999708,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg43Gly/c.127A>G|65|PRR4|protein_coding|CODING|NM_001098538.2|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln120Arg/c.359A>G|134|PRR4|protein_coding|CODING|NM_007244.2|3|1),non_coding_exon_variant(MODIFIER|||n.1479A>G||PRH1-PRR4||NON_CODING|NR_037918.2|9|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8599,0.8501,0.8429,0.71,0.47,0.83,,0.195524(N),1.000(P),2.37(T),0.0000(T),0.054,-1.116382,0.746,-1.49,-0.753000,-1.350000,-1.949000,0.007000,0.000000,0.000000,.
missense_variant,PRR4,MISSENSE,NM_007244.2:p.Arg96Gln/c.287G>A,cGa/cAa,MODERATE,COSM3752890(1),0.521765,0.7093,rs1063193,0(D),,0(N),-0.9854(T),,chr12,10999780,10999780,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg96Gln/c.287G>A|134|PRR4|protein_coding|CODING|NM_007244.2|3|1),intron_variant(MODIFIER|||c.101-46G>A|65|PRR4|protein_coding|CODING|NM_001098538.2|2|1),non_coding_exon_variant(MODIFIER|||n.1407G>A||PRH1-PRR4||NON_CODING|NR_037918.2|9|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6738,0.621,0.6252,0.46,0.21,0.58,,,1.000(P),,0.0000(T),.,0.040567,1.75,-3.51,-1.465000,-3.059000,-2.213000,0.001000,0.000000,0.000000,5.6305
missense_variant,PRH1,MISSENSE,NM_001291315.1:p.Leu55Ile/c.163C>A,Cta/Ata,MODERATE,COSM4146537(3),0.470447,0.6806,rs28607516,0.26(T),,,-0.9929(T),,chr12,11035274,11035274,G,T,het,"missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu42Ile/c.124C>A|187|PRH1|protein_coding|CODING|NM_001291314.1|6|1),missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu55Ile/c.163C>A|200|PRH1|protein_coding|CODING|NM_001291315.1|5|1),non_coding_exon_variant(MODIFIER|||n.726C>A||PRH1-PRR4||NON_CODING|NR_037918.2|7|1)","HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.5644,0.5432,0.5716,,,,,,1.000(P),2.29(T),0.0281(T),0.063,-1.997486,1.5,-1.73,-2.600000,-1.216000,-0.579000,0.000000,0.000000,0.000000,3.4453
missense_variant,TAS2R13,MISSENSE,NM_023920.2:p.Asn259Ser/c.776A>G,aAc/aGc,MODERATE,,0.520367,0.7242,rs1015443,0.34(T),0.129(B),0.285(N),-1.1544(T),,chr12,11061122,11061122,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn259Ser/c.776A>G|303|TAS2R13|protein_coding|CODING|NM_023920.2|1|1),intron_variant(MODIFIER|||c.104-25427A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|3|1),intron_variant(MODIFIER|||c.-58-24248A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|3|1),intron_variant(MODIFIER|||n.545-24248A>G||PRH1-PRR4||NON_CODING|NR_037918.2|4|1)",,,,,0.6503,0.5908,0.6243,0.46,0.22,0.58,,0.788221(N),1.000(P),5.73(T),0.0000(T),0.055,0.067332,2.71,0.219,0.377000,-0.077000,-1.097000,0.054000,0.000000,0.000000,4.853
missense_variant,PRH2,MISSENSE,NM_001110213.1:p.Asn66Asp/c.196A>G,Aat/Gat,MODERATE,COSM4146545(2),,,rs116998526,1(T),,,-0.9940(T),,chr12,11083356,11083356,A,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn66Asp/c.196A>G|166|PRH2|protein_coding|CODING|NM_001110213.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn66Asp/c.196A>G|166|PRH2|protein_coding|CODING|NM_005042.4|3|1),intron_variant(MODIFIER|||c.103+42898T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|3|1),intron_variant(MODIFIER|||c.-59+42898T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|3|1),intron_variant(MODIFIER|||n.544+42898T>C||PRH1-PRR4||NON_CODING|NR_037918.2|4|1)",,,,,,,,,,,,0.588505(N),1.000(P),"2.33,2.33(T,T)",0.0000(T),0.032,-3.000061,0.736,-1.47,-0.614000,-1.974000,-1.671000,0.003000,0.000000,0.000000,2.7991
synonymous_variant,TAS2R14,SILENT,NM_023922.1:p.Arg125Arg/c.375G>A,agG/agA,LOW,,0.775759,0.9226,rs3741843,,,,,,chr12,11091432,11091432,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg125Arg/c.375G>A|317|TAS2R14|protein_coding|CODING|NM_023922.1|1|1),intron_variant(MODIFIER|||c.103+34822G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|3|1),intron_variant(MODIFIER|||c.-59+34822G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|3|1),intron_variant(MODIFIER|||n.544+34822G>A||PRH1-PRR4||NON_CODING|NR_037918.2|4|1)",HepG2:H3K36me3,,,,0.8558,0.8444,0.8638,0.74,0.55,0.84,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R14,SILENT,NM_023922.1:p.Gly38Gly/c.114A>T,ggA/ggT,LOW,COSM3998659(1),0.223043,0.2073,rs7138535,,,,,,chr12,11091693,11091693,T,A,het,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly38Gly/c.114A>T|317|TAS2R14|protein_coding|CODING|NM_023922.1|1|1),intron_variant(MODIFIER|||c.103+34561A>T|200|PRH1|protein_coding|CODING|NM_001291315.1|3|1),intron_variant(MODIFIER|||c.-59+34561A>T|187|PRH1|protein_coding|CODING|NM_001291314.1|3|1),intron_variant(MODIFIER|||n.544+34561A>T||PRH1-PRR4||NON_CODING|NR_037918.2|4|1)",HepG2:H3K36me3,,,,0.1851,0.2911,0.2147,0.23,0.22,0.24,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R50,SILENT,NM_176890.2:p.Pro259Pro/c.777G>A,ccG/ccA,LOW,,0.547125,0.755,rs10772397,,,,,,chr12,11138683,11138683,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro259Pro/c.777G>A|299|TAS2R50|protein_coding|CODING|NM_176890.2|1|1),intron_variant(MODIFIER|||n.478-12363G>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-12363G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-12363G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,0.684,0.6009,0.6571,0.49,0.24,0.61,,,,,,,,,,,,,,,,
missense_variant,TAS2R50,MISSENSE,NM_176890.2:p.Cys203Tyr/c.608G>A,tGt/tAt,MODERATE,COSM3752904(1),0.410343,0.755,rs1376251,0.31(T),0.081(B),2.79(M),-1.0087(T),,chr12,11138852,11138852,C,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys203Tyr/c.608G>A|299|TAS2R50|protein_coding|CODING|NM_176890.2|1|1),intron_variant(MODIFIER|||n.478-12532G>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-12532G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-12532G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,0.6115,0.3775,0.3579,0.25,0.10,0.33,,0.216373(U),1.000(P),1.25(T),0.0000(T),0.201,0.745525,2.19,1.22,0.313000,0.217000,1.588000,0.492000,0.078000,0.336000,7.5054
missense_variant,TAS2R20,MISSENSE,NM_176889.2:p.Arg255Leu/c.764G>T,cGa/cTa,MODERATE,,0.423123,0.755,rs10845279,1(T),0.001(B),-2.83(N),-0.9177(T),,chr12,11149711,11149711,C,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cTa|p.Arg255Leu/c.764G>T|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23391G>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23391G>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23391G>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.6339,0.3847,0.3827,0.27,0.10,0.35,,0.479233(N),1.000(P),5.74(T),0.0000(T),0.063,-1.921931,2.66,-5.32,-0.383000,-1.408000,-1.312000,0.000000,0.000000,0.000000,4.8332
missense_variant,TAS2R20,MISSENSE,NM_176889.2:p.Phe252Ser/c.755T>C,tTt/tCt,MODERATE,COSM3752907(1),0.422923,0.755,rs10845280,0.41(T),0.002(B),-0.255(N),-0.9741(T),,chr12,11149720,11149720,A,G,het,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe252Ser/c.755T>C|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23400T>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23400T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23400T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.6339,0.3847,0.3817,0.27,0.10,0.35,,0.804836(N),1.000(P),1.31(T),0.0000(T),0.03,-0.875796,2.49,-2.3,-3.103000,-1.545000,-1.736000,0.000000,0.000000,0.000000,5.6602
missense_variant,TAS2R20,MISSENSE,NM_176889.2:p.Ile236Val/c.706A>G,Ata/Gta,MODERATE,COSM3752908(1),0.422923,0.755,rs10845281,0.03(D),0.004(B),0.935(L),-1.0735(T),,chr12,11149769,11149769,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile236Val/c.706A>G|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23449A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23449A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23449A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.6339,0.3847,0.3817,0.27,0.10,0.35,,0.424564(U),1.000(P),5.6(T),0.0000(T),0.054,0.144169,2.66,-1.57,-2.198000,-0.493000,0.139000,0.001000,0.000000,0.002000,0.4216
missense_variant,TAS2R20,MISSENSE,NM_176889.2:p.His148Asn/c.442C>A,Cac/Aac,MODERATE,,0.428315,0.755,rs12226919,1(T),0.0(B),-2.275(N),-0.8917(T),,chr12,11150033,11150033,G,T,het,"missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His148Asn/c.442C>A|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23713C>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23713C>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23713C>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.6339,0.3847,0.3827,0.27,0.12,0.35,,0.156042(N),1.000(P),1.29(T),0.0000(T),0.012,-2.105599,2.93,0.515,-0.335000,-0.033000,0.313000,0.001000,0.000000,0.001000,0.4501
missense_variant,TAS2R20,MISSENSE,NM_176889.2:p.His143Gln/c.429C>A,caC/caA,MODERATE,COSM3752909(1),0.423123,0.755,rs12226920,0.32(T),0.042(B),0.49(N),-0.9666(T),,chr12,11150046,11150046,G,T,het,"missense_variant(MODERATE|MISSENSE|caC/caA|p.His143Gln/c.429C>A|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23726C>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23726C>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23726C>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.6339,0.3847,0.3827,0.27,0.10,0.35,,0.604393(N),1.000(P),1.25(T),0.0000(T),0.023,0.042417,2.93,-4.77,-0.312000,-0.884000,-1.459000,0.000000,0.000000,0.000000,0.8786
synonymous_variant,TAS2R20,SILENT,NM_176889.2:p.Ala87Ala/c.261C>T,gcC/gcT,LOW,COSM3752910(1),0.422923,0.755,rs11054142,,,,,,chr12,11150214,11150214,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala87Ala/c.261C>T|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23894C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23894C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23894C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.6339,0.3847,0.3817,0.26,0.10,0.35,,,,,,,,,,,,,,,,
missense_variant,TAS2R20,MISSENSE,NM_176889.2:p.Lys79Glu/c.235A>G,Aaa/Gaa,MODERATE,COSM3998662(1),0.207468,0.1964,rs7135018,1(T),0.009(B),-0.755(N),-0.9488(T),,chr12,11150240,11150240,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys79Glu/c.235A>G|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23920A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23920A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23920A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.184,0.2392,0.2068,0.22,0.21,0.23,,0.086115(N),1.000(P),5.76(T),0.0000(T),0.046,-2.002581,2.65,-4.21,-1.251000,-0.881000,-2.986000,0.000000,0.000000,0.000000,1.285
synonymous_variant,TAS2R20,SILENT,NM_176889.2:p.Ala52Ala/c.156A>G,gcA/gcG,LOW,COSM3752911(1),0.422923,0.755,rs11054143,,,,,,chr12,11150319,11150319,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala52Ala/c.156A>G|309|TAS2R20|protein_coding|CODING|NM_176889.2|1|1),intron_variant(MODIFIER|||n.478-23999A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-125-23999A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.37-23999A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0.6339,0.3847,0.3817,0.26,0.10,0.35,,,,,,,,,,,,,,,,
stop_lost,TAS2R19,MISSENSE,NM_176888.1:p.Ter300Trpext*?/c.900A>G,tgA/tgG,HIGH,,,,,,,,,,chr12,11174271,11174271,T,C,het,"stop_lost(HIGH|MISSENSE|tgA/tgG|p.Ter300Trpext*?/c.900A>G|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13110A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25348A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25348A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,,1.000(N),,,.,-0.499472,2.83,-1.29,0.416000,-0.001000,-2.268000,0.001000,0.000000,0.000000,2.2468
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Arg299Cys/c.895C>T,Cgc/Tgc,MODERATE,,0.34984,0.1944,rs10772420,0.01(D),0.0(B),-0.345(N),-1.0590(T),,chr12,11174276,11174276,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg299Cys/c.895C>T|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13105C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25343C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25343C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,0.2566,0.464,0.505,0.46,0.38,0.50,,1.000000(U),1.000(P),5.62(T),0.0000(T),0.067,1.974316,2.97,-1.99,-0.451000,-0.434000,-0.548000,0.001000,0.000000,0.000000,5.7099
synonymous_variant,TAS2R19,SILENT,NM_176888.1:p.Thr298Thr/c.894A>G,acA/acG,LOW,,,,,,,,,,chr12,11174277,11174277,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr298Thr/c.894A>G|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13104A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25342A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25342A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Met297Val/c.889A>G,Atg/Gtg,MODERATE,,,,rs74386164,1(T),0.002(B),-1.415(N),-0.9280(T),,chr12,11174282,11174282,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met297Val/c.889A>G|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13099A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25337A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25337A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.214334(N),1.000(N),5.89(T),0.0008(T),0.039,-2.427101,2.97,-3.26,-1.395000,-0.593000,-1.712000,0.001000,0.000000,0.000000,0.1703
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Trp295Cys/c.885G>T,tgG/tgT,MODERATE,,,,rs77837442,0.16(T),0.049(B),0.5(N),-1.0324(T),,chr12,11174286,11174286,C,A,het,"missense_variant(MODERATE|MISSENSE|tgG/tgT|p.Trp295Cys/c.885G>T|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13095G>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25333G>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25333G>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.077615(U),1.000(N),1.37(T),0.0568(T),0.18,-0.176965,2.86,-2.42,-0.302000,-0.735000,-0.606000,0.007000,0.000000,0.000000,5.3934
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Phe290Ser/c.869T>C,tTt/tCt,MODERATE,COSM4146555(1),,,rs72475480,0.35(T),0.718(P),1.435(L),-1.0015(T),,chr12,11174302,11174302,A,G,het,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe290Ser/c.869T>C|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13079T>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25317T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25317T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.164832(U),1.000(N),0.98(T),0.1098(T),0.392,1.289028,2.95,-0.758,0.333000,-0.011000,-0.267000,0.009000,0.003000,0.000000,6.5702
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Gly282Arg/c.844G>A,Gga/Aga,MODERATE,COSM1180661(4),,,rs72475481,0.07(T),0.521(P),1.99(M),-0.8695(T),,chr12,11174327,11174327,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly282Arg/c.844G>A|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13054G>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25292G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25292G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.032478(U),1.000(N),1.43(T),0.0000(T),0.381,1.692440,2.95,2.95,0.405000,1.662000,-0.166000,0.003000,0.005000,0.000000,7.4146
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Val267Leu/c.799G>C,Gtt/Ctt,MODERATE,COSM4146556(2),0.000199681,0,rs74772077,0.14(T),0.001(B),0.16(N),-1.0571(T),,chr12,11174372,11174372,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val267Leu/c.799G>C|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13009G>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25247G>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25247G>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,0,0,0,,,,,0.412064(N),1.000(N),1.69(T),0.0281(T),0.138,-1.119029,2.95,-5.91,-2.214000,-4.404000,-8.492000,0.003000,0.000000,0.000000,1.2111
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Cys264Tyr/c.791G>A,tGc/tAc,MODERATE,COSM4146557(1),,,rs76970958,0.02(D),0.845(P),2.82(M),-1.0353(T),,chr12,11174380,11174380,C,T,het,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys264Tyr/c.791G>A|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+13001G>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25239G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25239G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.544694(U),1.000(N),5.68(T),0.0105(T),0.343,1.096780,2.4,-1.22,0.405000,-0.268000,-0.370000,0.004000,0.000000,0.000000,5.5956
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Leu261Phe/c.781C>T,Ctc/Ttc,MODERATE,COSM4146558(1),,,rs74992161,1(T),0.009(B),0.03(N),-0.9806(T),,chr12,11174390,11174390,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu261Phe/c.781C>T|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+12991C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25229C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25229C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.028093(N),1.000(N),1.24(T),0.0330(T),0.101,-3.392584,2.69,-5.38,-0.938000,-4.456000,-8.802000,0.001000,0.000000,0.000000,1.0331
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Lys258Asn/c.774A>T,aaA/aaT,MODERATE,COSM4146559(2),,,rs76455106,0.3(T),0.034(B),1.68(L),-0.9162(T),,chr12,11174397,11174397,T,A,het,"missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys258Asn/c.774A>T|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+12984A>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25222A>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25222A>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.295897(U),1.000(N),5.67(T),0.0033(T),0.072,-0.314772,2.52,0.123,0.333000,0.225000,-0.710000,0.004000,0.000000,0.000000,2.0704
missense_variant,TAS2R19,MISSENSE,NM_176888.1:p.Leu252Pro/c.755T>C,cTt/cCt,MODERATE,COSM4146560(4),,,rs112900131,0.21(T),0.003(B),0.19(N),-1.0747(T),,chr12,11174416,11174416,A,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu252Pro/c.755T>C|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+12965T>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+25203T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+25203T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,,,,,,,,0.076104(N),1.000(N),1.5(T),0.0334(T),0.153,-0.480577,2.68,-5.36,-0.633000,-1.493000,-1.993000,0.002000,0.000000,0.000000,0.5094
synonymous_variant,TAS2R19,SILENT,NM_176888.1:p.Leu140Leu/c.418C>T,Ctg/Ttg,LOW,,0.700879,0.8611,rs1868769,,,,,,chr12,11174753,11174753,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu140Leu/c.418C>T|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+12628C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+24866C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+24866C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,0.7454,0.8026,0.8141,0.68,0.46,0.80,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R19,SILENT,NM_176888.1:p.Ala28Ala/c.84C>T,gcC/gcT,LOW,COSM3998663(1),0.351837,0.1944,rs12313469,,,,,,chr12,11175087,11175087,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala28Ala/c.84C>T|299|TAS2R19|protein_coding|CODING|NM_176888.1|1|1),intron_variant(MODIFIER|||n.477+12294C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+24532C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+24532C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",,,,,0.2577,0.4669,0.5109,0.46,0.38,0.51,,,,,,,,,,,,,,,,
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Arg298Thr/c.893G>C,aGg/aCg,MODERATE,COSM3752914(3),,,rs3759246,0.13(T),0.6(P),1.035(L),-1.0188(T),,chr12,11183042,11183042,C,G,het,"missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg298Thr/c.893G>C|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+4339G>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16577G>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16577G>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,,,,,,,,,1.000(N),1.16(T),0.0824(T),0.287,1.323373,2.61,-0.464,0.184000,-0.264000,-2.166000,0.043000,0.001000,0.000000,5.1028
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Val297Met/c.889G>A,Gtg/Atg,MODERATE,COSM1180609(3),,,rs201730548,0.19(T),0.292(B),0.875(L),-0.9232(T),,chr12,11183046,11183046,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val297Met/c.889G>A|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+4335G>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16573G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16573G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,,,,,,,,,1.000(N),1.19(T),0.0715(T),0.13,0.193915,2.61,-0.939,0.184000,-0.407000,-1.795000,0.027000,0.001000,0.000000,5.4843
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Arg295Trp/c.883C>T,Cgg/Tgg,MODERATE,COSM3931508(1),0.000199681,0.001,rs199894662,1(T),0.004(B),-0.55(N),-1.0052(T),,chr12,11183052,11183052,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg295Trp/c.883C>T|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+4329C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16567C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16567C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,0,0,0,,,,,,1.000(N),1.1(T),0.0279(T),0.144,-2.033331,2.61,-4.48,-1.109000,-0.952000,-0.384000,0.030000,0.000000,0.000000,4.2218
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Phe290Tyr/c.869T>A,tTt/tAt,MODERATE,COSM3931509(1),,,rs138895028,0.14(T),0.25(B),2.55(M),-0.9730(T),,chr12,11183066,11183066,A,T,het,"missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe290Tyr/c.869T>A|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+4315T>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16553T>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16553T>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)",HepG2:H3K36me3,,,,,,,,,,,,1.000(N),0.98(T),0.1263(T),0.31,1.657910,2.41,2.41,0.155000,1.128000,0.972000,0.127000,0.003000,0.000000,6.6503
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Val240Ile/c.718G>A,Gtt/Att,MODERATE,COSM4146573(1),0.335264,0.1944,rs10772423,1(T),0.002(B),-0.76(N),-0.9831(T),,chr12,11183217,11183217,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val240Ile/c.718G>A|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+4164G>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16402G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16402G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2352,0.4568,0.4801,0.44,0.36,0.48,,,1.000(P),1.25(T),0.0000(T),0.021,-1.651065,2.62,-4.77,-1.220000,-1.565000,-4.168000,0.047000,0.000000,0.000000,3.2158
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Ala227Val/c.680C>T,gCt/gTt,MODERATE,COSM3998664(1),0.34984,0.1944,rs10845293,0.11(T),0.434(B),2.18(M),-1.0389(T),,chr12,11183255,11183255,G,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala227Val/c.680C>T|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+4126C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16364C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16364C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2566,0.464,0.505,0.46,0.37,0.50,,,1.000(P),4.91(T),0.0000(T),0.083,1.151811,2.42,1.42,-2.741000,-0.014000,0.847000,0.040000,0.001000,0.001000,8.0348
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Leu162Met/c.484T>A,Ttg/Atg,MODERATE,COSM4146590(1),0.694289,0.8611,rs10743938,0.89(T),0.026(B),-0.49(N),-0.9753(T),,chr12,11183451,11183451,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu162Met/c.484T>A|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3930T>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16168T>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16168T>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7362,0.7954,0.7982,0.69,0.47,0.80,,,1.000(P),1.19(T),0.0000(T),0.039,-1.773597,2.62,-0.114,-1.236000,-0.532000,-1.645000,0.149000,0.001000,0.000000,0.3971
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Glu151Gln/c.451G>C,Gag/Cag,MODERATE,COSM4146592(3),,,,0.52(T),0.082(B),1.485(L),-0.9174(T),,chr12,11183484,11183484,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu151Gln/c.451G>C|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3897G>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16135G>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16135G>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(N),5.72(T),0.0028(T),0.218,-0.229423,2.45,0.495,0.194000,0.366000,-2.167000,0.019000,0.002000,0.000000,4.2593
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Ile147Val/c.439A>G,Ata/Gta,MODERATE,,,,rs199736450,0.49(T),0.006(B),0.18(N),-0.9411(T),,chr12,11183496,11183496,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile147Val/c.439A>G|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3885A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16123A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16123A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(N),5.69(T),0.0015(T),0.048,-1.225300,2.45,-4.89,-1.140000,-1.115000,-1.931000,0.012000,0.000000,0.000000,4.2721
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Gln143His/c.429A>T,caA/caT,MODERATE,,,,rs115707514,1(T),0.004(B),-0.755(N),-1.0259(T),,chr12,11183506,11183506,T,A,het,"missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln143His/c.429A>T|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3875A>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16113A>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16113A>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(N),1.21(T),0.0225(T),0.044,-2.376103,2.45,-4.89,-1.394000,-1.780000,-0.426000,0.015000,0.000000,0.000000,4.5457
synonymous_variant,TAS2R31,SILENT,NM_176885.2:p.Ala141Ala/c.423T>C,gcT/gcC,LOW,,0.21266,0.1944,rs12370363,,,,,,chr12,11183512,11183512,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala141Ala/c.423T>C|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3869T>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16107T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16107T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.184,0.2406,0.2068,0.22,0.21,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R31,SILENT,NM_176885.2:p.Leu137Leu/c.411A>G,ttA/ttG,LOW,COSM4146594(4),,,rs75159539,,,,,,chr12,11183524,11183524,T,C,het,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu137Leu/c.411A>G|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3857A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16095A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16095A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.His120Arg/c.359A>G,cAc/cGc,MODERATE,COSM4146595(1),,,rs72475488,0.27(T),0.05(B),1.465(L),-0.9938(T),,chr12,11183576,11183576,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His120Arg/c.359A>G|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3805A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+16043A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+16043A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(P),5.77(T),0.0029(T),0.148,0.207071,2.45,0.689,0.163000,0.009000,-1.559000,0.359000,0.010000,0.000000,4.3173
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Leu98Pro/c.293T>C,cTt/cCt,MODERATE,,,,rs73049067,0.01(D),0.451(P),3.63(H),-1.1857(T),,chr12,11183642,11183642,A,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu98Pro/c.293T>C|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3739T>C||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15977T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15977T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,0.999(P),5.12(T),0.0163(T),0.725,1.895470,2.45,2.45,0.163000,1.132000,2.362000,0.223000,0.025000,0.038000,6.7183
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Val87Ile/c.259G>A,Gtc/Atc,MODERATE,COSM1180662(1),,,rs73049072,1(T),0.004(B),-0.54(N),-1.0183(T),,chr12,11183676,11183676,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val87Ile/c.259G>A|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3705G>A||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15943G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15943G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(P),1.24(T),0.0214(T),0.13,-2.204942,2.28,-4.56,-1.188000,-1.339000,-2.192000,0.006000,0.000000,0.000000,0.6728
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Val80Leu/c.238G>T,Gta/Tta,MODERATE,COSM4146596(2),,,rs73049074,0.32(T),0.03(B),0.75(N),-1.0080(T),,chr12,11183697,11183697,C,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val80Leu/c.238G>T|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3684G>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15922G>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15922G>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(P),1.4(T),0.0487(T),0.095,-0.394069,2.45,-1.55,0.194000,-0.095000,-1.535000,0.062000,0.000000,0.000000,4.2171
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Tyr76Cys/c.227A>G,tAt/tGt,MODERATE,COSM3752916(1),,,rs80125932,0.06(T),0.078(B),2.31(M),-1.0399(T),,chr12,11183708,11183708,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr76Cys/c.227A>G|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3673A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15911A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15911A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,0.08,0.02,0.10,,,1.000(N),1.15(T),0.0035(T),0.165,0.356563,2.45,1.15,0.163000,0.151000,0.134000,0.116000,0.005000,0.001000,5.2988
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Phe71Leu/c.213T>G,ttT/ttG,MODERATE,COSM4146597(2),,,rs78562467,1(T),0.042(B),-0.22(N),-0.9462(T),,chr12,11183722,11183722,A,C,het,"missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe71Leu/c.213T>G|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3659T>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15897T>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15897T>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(P),5.82(T),0.0012(T),0.093,-1.782459,2.45,-4.89,-3.409000,-3.657000,-2.080000,0.031000,0.000000,0.000000,5.2831
synonymous_variant,TAS2R31,SILENT,NM_176885.2:p.Val61Val/c.183A>G,gtA/gtG,LOW,COSM1744519(3),,,rs72475489,,,,,,chr12,11183752,11183752,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val61Val/c.183A>G|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3629A>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15867A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15867A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Leu48Val/c.142C>G,Ctc/Gtc,MODERATE,COSM3746271(5),,,,0.05(D),0.558(P),3.5(M),-1.0868(T),,chr12,11183793,11183793,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu48Val/c.142C>G|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3588C>G||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15826C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15826C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(N),4.84(T),0.0196(T),0.279,1.416943,2.45,1.45,0.194000,0.299000,0.787000,0.092000,0.006000,0.077000,6.1115
missense_variant,TAS2R31,MISSENSE,NM_176885.2:p.Arg35Trp/c.103C>T,Cgg/Tgg,MODERATE,COSM4146599(3),0.335463,0.1944,rs10845295,1(T),0.0(B),-3.445(N),-0.9829(T),,chr12,11183832,11183832,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg35Trp/c.103C>T|309|TAS2R31|protein_coding|CODING|NM_176885.2|1|1),intron_variant(MODIFIER|||n.477+3549C>T||PRH1-PRR4||NON_CODING|NR_037918.2|3|1),intron_variant(MODIFIER|||c.-126+15787C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|2|1),intron_variant(MODIFIER|||c.36+15787C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2352,0.4568,0.4801,0.44,0.35,0.48,,,1.000(P),6.26(T),0.0000(T),0.088,-1.952494,2.45,1.23,-1.220000,-0.166000,1.722000,0.048000,0.004000,0.004000,4.6954
stop_gained,TAS2R46,NONSENSE,NM_176887.2:p.Trp250*/c.749G>A,tGg/tAg,HIGH,,0.211861,0.1925,rs2708381,1(T),,,,,chr12,11214145,11214145,C,T,het,"stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp250*/c.749G>A|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14358G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14358G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14358G>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0.184,0.2378,0.2068,0.23,0.23,0.23,,,0.000(P),,,.,1.249107,2.37,-0.0226,0.194000,0.309000,-0.395000,0.008000,0.026000,0.000000,7.8362
missense_variant,TAS2R46,MISSENSE,NM_176887.2:p.Ile245Val/c.733A>G,Ata/Gta,MODERATE,,,,,0.52(T),0.002(B),0.745(N),-0.9277(T),,chr12,11214161,11214161,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile245Val/c.733A>G|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14374A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14374A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14374A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.77(T),0.0017(T),0.014,-0.979807,2.54,-5.08,-1.224000,-1.599000,-4.936000,0.007000,0.000000,0.000000,2.4647
synonymous_variant,TAS2R46,SILENT,NM_176887.2:p.Ser244Ser/c.732C>T,tcC/tcT,LOW,,,,,,,,,,chr12,11214162,11214162,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser244Ser/c.732C>T|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14375C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14375C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14375C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R46,MISSENSE,NM_176887.2:p.Leu243Val/c.727C>G,Ctg/Gtg,MODERATE,,,,,0.09(T),0.074(B),1.845(L),-0.9420(T),,chr12,11214167,11214167,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu243Val/c.727C>G|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14380C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14380C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14380C>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.6(T),0.0040(T),0.177,0.209788,2.54,-2.8,0.194000,-0.350000,-0.612000,0.010000,0.000000,0.000000,4.0377
missense_variant,TAS2R46,MISSENSE,NM_176887.2:p.Leu228Met/c.682T>A,Ttg/Atg,MODERATE,COSM3998667(1),0.335863,0.1925,rs2708380,0.23(T),0.521(P),1.53(L),-1.0049(T),,chr12,11214212,11214212,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu228Met/c.682T>A|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14425T>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14425T>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14425T>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0.2352,0.4625,0.4841,0.45,0.37,0.49,,,1.000(P),5.29(T),0.0000(T),0.073,1.252660,2.54,-3.08,0.163000,-0.745000,-0.066000,0.100000,0.000000,0.022000,4.1272
missense_variant,TAS2R46,MISSENSE,NM_176887.2:p.Ile199Val/c.595A>G,Atc/Gtc,MODERATE,,,,rs376020270,0.05(D),0.107(B),2.4(M),-0.9789(T),,chr12,11214299,11214299,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile199Val/c.595A>G|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14512A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14512A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14512A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.29(T),0.0069(T),0.167,0.429816,2.54,0.135,0.163000,0.229000,0.156000,0.013000,0.001000,0.003000,5.5572
synonymous_variant,TAS2R46,SILENT,NM_176887.2:p.Leu190Leu/c.570G>A,ctG/ctA,LOW,,,,,,,,,,chr12,11214324,11214324,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu190Leu/c.570G>A|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14537G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14537G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14537G>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R46,MISSENSE,NM_176887.2:p.Ile147Val/c.439A>G,Ata/Gta,MODERATE,,,,rs72477411,0.52(T),0.004(B),0.275(N),-0.9331(T),,chr12,11214455,11214455,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile147Val/c.439A>G|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14668A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14668A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14668A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.69(T),0.0015(T),0.039,-1.954032,2.37,-4.74,-1.285000,-2.929000,-3.996000,0.013000,0.000000,0.000000,2.3814
missense_variant,TAS2R46,MISSENSE,NM_176887.2:p.Val141Ala/c.422T>C,gTt/gCt,MODERATE,COSM3931512(1),,,rs200936852,0.36(T),0.012(B),1.425(L),-1.0082(T),,chr12,11214472,11214472,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val141Ala/c.422T>C|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14685T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14685T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14685T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),1.18(T),0.0610(T),0.038,-0.369128,2.54,-0.306,-1.140000,-0.283000,-0.223000,0.055000,0.000000,0.000000,3.4839
synonymous_variant,TAS2R46,SILENT,NM_176887.2:p.Leu133Leu/c.399A>G,ctA/ctG,LOW,,,,,,,,,,chr12,11214495,11214495,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu133Leu/c.399A>G|309|TAS2R46|protein_coding|CODING|NM_176887.2|1|1),intron_variant(MODIFIER|||c.-294-14708A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-14708A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-14708A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Pro272Ser/c.814C>T,Cct/Tct,MODERATE,,,,rs200533679,0.04(D),0.571(P),2.965(M),-0.9137(T),,chr12,11244015,11244015,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro272Ser/c.814C>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44228C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44228C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44228C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),1.37(T),0.1658(T),0.377,1.375414,2.54,1.45,0.195000,1.097000,0.376000,0.023000,0.258000,0.008000,5.7767
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Tyr271Cys/c.812A>G,tAt/tGt,MODERATE,,,,rs201618803,0.04(D),0.247(B),2.41(M),-0.9705(T),,chr12,11244017,11244017,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr271Cys/c.812A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44230A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44230A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44230A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.28(T),0.0066(T),0.415,0.516381,2.54,1.33,0.164000,0.906000,1.150000,0.026000,0.221000,0.004000,3.8188
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Arg268Gly/c.802A>G,Aga/Gga,MODERATE,,,,rs202101405,1(T),0.001(B),-1.415(N),-1.0262(T),,chr12,11244027,11244027,T,C,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg268Gly/c.802A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44240A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44240A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44240A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),1.33(T),0.0176(T),0.118,-2.486747,2.54,-5.08,-1.381000,-1.549000,-0.939000,0.001000,0.000000,0.000000,4.7672
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Lys265Gln/c.793A>C,Aaa/Caa,MODERATE,,,,rs200291442,1(T),0.002(B),-1.335(N),-0.9460(T),,chr12,11244036,11244036,T,G,het,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys265Gln/c.793A>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44249A>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44249A>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44249A>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.79(T),0.0008(T),0.071,-2.546534,2.54,-5.08,-2.809000,-0.860000,-1.834000,0.000000,0.000000,0.000000,5.8866
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Met246Ile/c.738G>A,atG/atA,MODERATE,,,,rs199768488,1(T),0.0(B),-1.985(N),-1.0103(T),,chr12,11244091,11244091,C,T,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met246Ile/c.738G>A|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44304G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44304G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44304G>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),1.43(T),0.0117(T),0.13,-2.371977,2.54,-5.08,-1.084000,-1.327000,-3.975000,0.001000,0.000000,0.000000,4.439
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Ile245Val/c.733A>G,Ata/Gta,MODERATE,,,,,0.44(T),0.004(B),0.475(N),-0.9244(T),,chr12,11244096,11244096,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile245Val/c.733A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44309A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44309A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44309A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),5.77(T),0.0015(T),0.04,-0.646404,2.54,-5.08,-1.322000,-0.770000,-4.053000,0.001000,0.000000,0.000000,1.0821
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Ser244Ser/c.732C>T,tcC/tcT,LOW,,,,,,,,,,chr12,11244097,11244097,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser244Ser/c.732C>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44310C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44310C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44310C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Leu243Val/c.727C>G,Ctg/Gtg,MODERATE,COSM4146618(1),,,rs199943442,0.08(T),0.118(B),1.945(M),-0.9582(T),,chr12,11244102,11244102,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu243Val/c.727C>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44315C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44315C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44315C>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),5.6(T),0.0042(T),0.155,-0.288543,2.01,-2.91,-1.080000,-0.679000,-2.561000,0.001000,0.000000,0.000000,3.3978
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Ala227Val/c.680C>T,gCt/gTt,MODERATE,,0.00758786,0,rs73064964,0.1(T),0.434(B),2.345(M),-1.1443(T),,chr12,11244149,11244149,G,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala227Val/c.680C>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44362C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44362C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44362C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0.0358,0.0014,0.001,,,,,,1.000(P),4.91(T),0.0113(T),0.521,1.152962,2.01,2.01,0.195000,1.097000,1.072000,0.029000,0.482000,0.007000,7.4028
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Thr221Thr/c.663C>G,acC/acG,LOW,COSM1127568(9),0.638778,0.9405,rs35720106,,,,,,chr12,11244166,11244166,G,C,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr221Thr/c.663C>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44379C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44379C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44379C>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0.8241,0.7205,0.7793,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Ser220Ser/c.660C>T,agC/agT,LOW,,,,rs201144595,,,,,,chr12,11244169,11244169,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser220Ser/c.660C>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44382C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44382C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44382C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Gly213Gly/c.639T>C,ggT/ggC,LOW,,,,rs202034865,,,,,,chr12,11244190,11244190,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly213Gly/c.639T>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44403T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44403T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44403T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.His212Arg/c.635A>G,cAt/cGt,MODERATE,COSM430341(4),0.621805,0.9425,rs71443637,0.07(T),,2.8(M),-1.0794(T),,chr12,11244194,11244194,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His212Arg/c.635A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44407A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44407A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44407A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0.7996,0.7104,0.7525,,,,,,1.000(P),5.76(T),0.0000(T),0.03,-0.399500,1.45,-1.32,-1.273000,-0.374000,-0.381000,0.002000,0.000000,0.000000,4.3248
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Phe158Tyr/c.473T>A,tTt/tAt,MODERATE,COSM3931518(3),,,rs200257456,1(T),0.001(B),-1.87(N),-0.9906(T),,chr12,11244356,11244356,A,T,het,"missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe158Tyr/c.473T>A|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44569T>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44569T>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44569T>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),1.21(T),0.0159(T),0.098,-2.200694,1.83,-1.65,-1.495000,-0.596000,-2.253000,0.038000,0.004000,0.000000,4.5237
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Arg154Trp/c.460C>T,Cgg/Tgg,MODERATE,COSM4146624(1),0.000399361,0,,1(T),0.002(B),-1.055(N),-0.9786(T),,chr12,11244369,11244369,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg154Trp/c.460C>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44582C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44582C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44582C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0,0,0,,,,,,1.000(N),1.19(T),0.0224(T),0.102,-2.315340,2.01,1.05,0.195000,0.165000,-0.836000,0.013000,0.001000,0.000000,4.5717
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Val153Val/c.459G>A,gtG/gtA,LOW,COSM4146625(1),,,rs374071892,,,,,,chr12,11244370,11244370,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val153Val/c.459G>A|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44583G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44583G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44583G>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Glu151Gln/c.451G>C,Gag/Cag,MODERATE,COSM3931519(1),,,rs201455884,0.62(T),0.052(B),1.47(L),-0.9820(T),,chr12,11244378,11244378,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu151Gln/c.451G>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44591G>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44591G>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44591G>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),5.72(T),0.0028(T),0.094,-0.814469,2.01,-2.44,-1.098000,-0.247000,-0.689000,0.003000,0.000000,0.000000,9.2348
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Ile147Val/c.439A>G,Ata/Gta,MODERATE,COSM3931520(2),,,rs73064966,0.48(T),0.004(B),0.025(N),-0.9406(T),,chr12,11244390,11244390,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile147Val/c.439A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44603A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44603A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44603A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),5.69(T),0.0015(T),0.05,-2.402826,2.01,-4.03,-1.273000,-3.259000,-4.042000,0.006000,0.000000,0.000000,5.9332
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Leu133Leu/c.397T>C,Ttg/Ctg,LOW,COSM3931522(3),,,rs111982292,,,,,,chr12,11244432,11244432,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu133Leu/c.397T>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44645T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44645T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44645T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.His120Arg/c.359A>G,cAc/cGc,MODERATE,COSM215508(4),,,rs201460452,0.26(T),0.031(B),1.305(L),-0.9783(T),,chr12,11244470,11244470,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His120Arg/c.359A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44683A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44683A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44683A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),5.77(T),0.0026(T),0.089,-0.388042,1.97,-0.537,0.155000,0.047000,-0.379000,0.117000,0.005000,0.000000,4.1477
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Phe116Leu/c.346T>C,Ttt/Ctt,MODERATE,COSM4146626(1),,,rs201210705,1(T),0.001(B),-1.095(N),-0.9667(T),,chr12,11244483,11244483,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe116Leu/c.346T>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44696T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44696T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44696T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),1.27(T),0.0215(T),0.055,-2.023930,1.97,-1.62,-1.392000,-0.709000,-1.269000,0.045000,0.000000,0.000000,5.3068
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Asn76Tyr/c.226A>T,Aat/Tat,MODERATE,,,,rs200999522,1(T),0.001(B),-3.165(N),-0.9807(T),,chr12,11244603,11244603,T,A,het,"missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn76Tyr/c.226A>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44816A>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44816A>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44816A>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),1.29(T),0.0092(T),0.081,-2.676482,1.97,-3.32,-1.812000,-0.948000,-0.204000,0.011000,0.000000,0.000000,2.2701
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Asn65Asn/c.195C>T,aaC/aaT,LOW,COSM3811034(6),,,rs200893955,,,,,,chr12,11244634,11244634,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn65Asn/c.195C>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44847C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44847C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44847C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Val61Val/c.183A>G,gtA/gtG,LOW,COSM3811037(6),,,rs201583586,,,,,,chr12,11244646,11244646,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val61Val/c.183A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44859A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44859A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44859A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Leu48Val/c.142C>G,Ctc/Gtc,MODERATE,COSM3811039(6),,,rs113197337,0.05(D),0.434(B),3.09(M),-1.1469(T),,chr12,11244687,11244687,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu48Val/c.142C>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44900C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44900C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44900C>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(P),4.84(T),0.0159(T),0.242,0.483814,1.97,0.973,0.184000,0.130000,1.075000,0.027000,0.010000,0.601000,6.121
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Phe36Leu/c.108C>G,ttC/ttG,MODERATE,COSM3931525(3),,,rs201281372,0.03(D),0.002(B),0.07(N),-0.9154(T),,chr12,11244721,11244721,G,C,het,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe36Leu/c.108C>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44934C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44934C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44934C>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.97(T),0.0016(T),0.092,0.226571,1.97,1.97,0.184000,1.092000,1.069000,0.075000,0.404000,0.265000,7.3831
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Phe36Val/c.106T>G,Ttc/Gtc,MODERATE,COSM3931526(3),,,rs191086711,1(T),0.0(B),-2.42(N),-0.9796(T),,chr12,11244723,11244723,A,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe36Val/c.106T>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44936T>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44936T>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44936T>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),6.04(T),0.0000(T),0.086,-3.175861,1.97,-0.475,-1.429000,-0.282000,-1.491000,0.074000,0.283000,0.011000,3.94
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Trp35Ser/c.104G>C,tGg/tCg,MODERATE,COSM430344(4),0.621605,0.9425,rs68157013,0.01(D),,3.93(H),-1.0099(T),,chr12,11244725,11244725,C,G,het,"missense_variant(MODERATE|MISSENSE|tGg/tCg|p.Trp35Ser/c.104G>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44938G>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44938G>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44938G>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0.8006,0.7118,0.7525,,,,,,0.000(P),5.32(T),0.0000(T),0.427,-0.607724,1.97,0.939,0.184000,0.107000,1.065000,0.092000,0.246000,0.155000,5.2922
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Ile33Ile/c.99T>C,atT/atC,LOW,,,,rs199862459,,,,,,chr12,11244730,11244730,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile33Ile/c.99T>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44943T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44943T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44943T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Ile33Thr/c.98T>C,aTt/aCt,MODERATE,,0.000399361,0,rs201645619,0.15(T),0.026(B),1.735(L),-0.9426(T),,chr12,11244731,11244731,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile33Thr/c.98T>C|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44944T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44944T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44944T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0,0,0.002,0.02,0.01,0.03,,,1.000(N),5.61(T),0.0015(T),0.257,-0.783664,1.97,1.97,0.155000,0.902000,-0.405000,0.122000,0.367000,0.000000,5.8653
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Leu29Leu/c.85C>T,Ctg/Ttg,LOW,COSM4146629(2),,,rs201819808,,,,,,chr12,11244744,11244744,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu29Leu/c.85C>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44957C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44957C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44957C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Ala28Ala/c.84A>G,gcA/gcG,LOW,COSM4146630(2),,,rs200369046,,,,,,chr12,11244745,11244745,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala28Ala/c.84A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-44958A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-44958A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-44958A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Leu12Leu/c.36G>A,ctG/ctA,LOW,COSM4146633(1),,,rs368569282,,,,,,chr12,11244793,11244793,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu12Leu/c.36G>A|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-45006G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-45006G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-45006G>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R43,MISSENSE,NM_176884.2:p.Ser11Ile/c.32G>T,aGt/aTt,MODERATE,COSM4146634(1),,,rs199777806,1(T),0.001(B),-2.215(N),-0.9366(T),,chr12,11244797,11244797,C,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser11Ile/c.32G>T|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-45010G>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-45010G>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-45010G>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),5.95(T),0.0006(T),0.107,-2.760552,1.97,-1.01,-1.621000,-0.380000,0.154000,0.005000,0.028000,0.000000,2.6649
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Ile8Ile/c.24T>A,atT/atA,LOW,COSM4146636(1),,,,,,,,,chr12,11244805,11244805,A,T,het,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile8Ile/c.24T>A|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-45018T>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-45018T>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-45018T>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R43,SILENT,NM_176884.2:p.Leu5Leu/c.15A>G,ctA/ctG,LOW,COSM4146637(1),,,rs377076131,,,,,,chr12,11244814,11244814,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu5Leu/c.15A>G|309|TAS2R43|protein_coding|CODING|NM_176884.2|1|1),intron_variant(MODIFIER|||c.-294-45027A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-133-45027A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.205-45027A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Phe252Leu/c.756T>G,ttT/ttG,MODERATE,,0.351238,0.1944,rs2599404,0.7(T),,,-0.9041(T),,chr12,11286088,11286088,A,C,het,"missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe252Leu/c.756T>G|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37933T>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37933T>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37933T>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",HepG2:H3K36me3,,,,0.2566,0.4697,0.5109,0.46,0.38,0.50,,,1.000(P),1.28(T),0.0000(T),0.018,-2.760374,2.6,-3.51,-2.910000,-0.589000,-1.060000,0.001000,0.000000,0.000000,0.3526
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Ile199Val/c.595A>G,Atc/Gtc,MODERATE,COSM4146648(5),0.000399361,0,rs77777159,0.05(D),0.168(B),2.56(M),-0.9603(T),,chr12,11286249,11286249,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile199Val/c.595A>G|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37772A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37772A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37772A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",HepG2:H3K36me3,,,,0.002,0,0,,,,,,1.000(N),5.29(T),0.0066(T),0.194,0.734379,2.6,-0.407,0.260000,0.205000,0.186000,0.059000,0.003000,0.001000,2.8271
synonymous_variant,TAS2R30,SILENT,NM_001097643.1:p.Leu190Leu/c.570G>A,ctG/ctA,LOW,,,,,,,,,,chr12,11286274,11286274,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu190Leu/c.570G>A|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37747G>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37747G>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37747G>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",HepG2:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Leu190Val/c.568C>G,Ctg/Gtg,MODERATE,,,,,0.32(T),0.029(B),1.2(L),-0.9483(T),,chr12,11286276,11286276,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu190Val/c.568C>G|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37745C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37745C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37745C>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",HepG2:H3K36me3,,,,,,,,,,,,1.000(N),5.82(T),0.0024(T),0.156,-0.632049,2.6,-4.69,-0.698000,-0.577000,-0.309000,0.011000,0.000000,0.000000,5.8078
synonymous_variant,TAS2R30,SILENT,NM_001097643.1:p.Leu188Leu/c.564C>T,ctC/ctT,LOW,,,,,,,,,,chr12,11286280,11286280,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu188Leu/c.564C>T|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37741C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37741C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37741C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",HepG2:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Leu188Phe/c.562C>T,Ctc/Ttc,MODERATE,,,,,1(T),0.002(B),-1.88(N),-0.9269(T),,chr12,11286282,11286282,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu188Phe/c.562C>T|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37739C>T|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37739C>T|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37739C>T||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",HepG2:H3K36me3,,,,,,,,,,,,1.000(N),5.94(T),0.0006(T),0.045,-1.985254,2.6,-2.82,-1.305000,-0.226000,0.169000,0.011000,0.001000,0.000000,2.9544
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Val44Ala/c.131T>C,gTt/gCt,MODERATE,,0.000199681,0,rs113799622,1(T),0.002(B),-1.25(N),-1.0076(T),,chr12,11286713,11286713,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val44Ala/c.131T>C|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37308T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37308T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37308T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",HSMM:DNase1,,,,0,0,0,,,,,,1.000(N),1.2(T),0.0184(T),0.034,-1.971011,2.48,-4.95,-0.769000,-1.177000,-1.496000,0.024000,0.000000,0.000000,4.9996
synonymous_variant,TAS2R30,SILENT,NM_001097643.1:p.Val36Val/c.108C>G,gtC/gtG,LOW,,,,rs112605675,,,,,,chr12,11286736,11286736,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val36Val/c.108C>G|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37285C>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37285C>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37285C>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R30,SILENT,NM_001097643.1:p.Ile33Ile/c.99T>C,atT/atC,LOW,,,,,,,,,,chr12,11286745,11286745,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile33Ile/c.99T>C|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37276T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37276T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37276T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Ile33Thr/c.98T>C,aTt/aCt,MODERATE,,,,,0.18(T),0.1(B),1.835(L),-0.9888(T),,chr12,11286746,11286746,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile33Thr/c.98T>C|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37275T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37275T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37275T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),1.27(T),0.0822(T),0.353,0.548783,2.69,1.49,0.254000,0.265000,0.277000,0.238000,0.019000,0.001000,4.63
synonymous_variant,TAS2R30,SILENT,NM_001097643.1:p.Ala28Ala/c.84A>G,gcA/gcG,LOW,,,,,,,,,,chr12,11286760,11286760,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala28Ala/c.84A>G|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37261A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37261A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37261A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TAS2R30,SILENT,NM_001097643.1:p.Val18Val/c.54T>G,gtT/gtG,LOW,COSM4146649(1),0.351637,0.1944,rs2600355,,,,,,chr12,11286790,11286790,A,C,het,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val18Val/c.54T>G|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37231T>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37231T>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37231T>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,0.2577,0.4712,0.5109,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Ile16Thr/c.47T>C,aTa/aCa,MODERATE,,,,,0.41(T),0.001(B),0.4(N),-1.0269(T),,chr12,11286797,11286797,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile16Thr/c.47T>C|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37224T>C|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37224T>C|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37224T>C||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),0.95(T),0.0416(T),0.035,-0.125111,3.32,-6.27,-0.756000,-0.959000,-0.252000,0.051000,0.000000,0.000000,1.1532
missense_variant,TAS2R30,MISSENSE,NM_001097643.1:p.Ile13Val/c.37A>G,Ata/Gta,MODERATE,,,,rs113282241,0.99(T),0.001(B),0.03(N),-0.9836(T),,chr12,11286807,11286807,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile13Val/c.37A>G|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37214A>G|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37214A>G|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37214A>G||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,1.000(N),1.22(T),0.0270(T),0.024,-1.759083,3.32,-6.48,-1.972000,-0.746000,-6.625000,0.005000,0.000000,0.000000,3.7014
synonymous_variant,TAS2R30,SILENT,NM_001097643.1:p.Ile8Ile/c.24T>A,atT/atA,LOW,,,,rs111958076,,,,,,chr12,11286820,11286820,A,T,het,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile8Ile/c.24T>A|319|TAS2R30|protein_coding|CODING|NM_001097643.1|1|1),intron_variant(MODIFIER|||c.-295+37201T>A|187|PRH1|protein_coding|CODING|NM_001291314.1|1|1),intron_variant(MODIFIER|||c.-134+37201T>A|200|PRH1|protein_coding|CODING|NM_001291315.1|1|1),intron_variant(MODIFIER|||n.204+37201T>A||PRH1-PRR4||NON_CODING|NR_037918.2|1|1)",,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TAS2R42,MISSENSE,NM_181429.2:p.Ala311Pro/c.931G>C,Gct/Cct,MODERATE,,0.760783,0.9514,rs1650017,1(T),0.0(B),0(N),-1.0068(T),,chr12,11338613,11338613,C,G,hom,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala311Pro/c.931G>C|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.8701,0.8473,0.8688,0.66,0.39,0.80,,0.392964(N),1.000(P),5.57(T),0.0000(T),0.033,-1.940645,3.12,-1.72,-0.744000,-0.746000,-2.849000,0.000000,0.000000,0.000000,0.4746
synonymous_variant,TAS2R42,SILENT,NM_181429.2:p.Asn310Asn/c.930T>C,aaT/aaC,LOW,,0.760783,0.9514,rs1669411,,,,,,chr12,11338614,11338614,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn310Asn/c.930T>C|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.8701,0.8473,0.8688,0.66,0.39,0.80,,,,,,,,,,,,,,,,
missense_variant,TAS2R42,MISSENSE,NM_181429.2:p.Arg292Gln/c.875G>A,cGa/cAa,MODERATE,,0.220048,0.1944,rs1669412,0.01(D),0.994(D),2.48(M),-0.9368(T),,chr12,11338669,11338669,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg292Gln/c.875G>A|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.2055,0.2305,0.2167,0.24,0.24,0.24,,0.001188(N),1.000(P),5.43(T),0.0000(T),0.218,2.763624,4.02,2.17,-0.145000,0.318000,0.018000,0.002000,0.000000,0.000000,6.581
missense_variant,TAS2R42,MISSENSE,NM_181429.2:p.Tyr265Cys/c.794A>G,tAc/tGc,MODERATE,COSM3998672(1),0.220048,0.1944,rs1451772,0.12(T),0.318(B),1.355(L),-0.9401(T),,chr12,11338750,11338750,T,C,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr265Cys/c.794A>G|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.2055,0.2305,0.2167,0.24,0.24,0.24,,0.001895(N),1.000(P),5.76(T),0.0000(T),0.192,0.557044,3.59,-0.391,0.528000,0.078000,-0.540000,0.007000,0.000000,0.000000,2.6081
missense_variant,TAS2R42,MISSENSE,NM_181429.2:p.Gly255Trp/c.763G>T,Ggg/Tgg,MODERATE,,0.760783,0.9514,rs1669413,0.55(T),0.0(B),-2.79(N),-0.9806(T),,chr12,11338781,11338781,C,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly255Trp/c.763G>T|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.8701,0.8473,0.8688,0.71,0.47,0.84,,0.116621(N),1.000(P),1.21(T),0.0000(T),0.11,0.176020,3.59,2.32,-0.264000,0.588000,1.221000,0.000000,0.006000,0.003000,3.9363
missense_variant,TAS2R42,MISSENSE,NM_181429.2:p.Phe196Ser/c.587T>C,tTc/tCc,MODERATE,,0.540735,0.7569,rs5020531,1(T),0.0(B),-1.735(N),-0.9572(T),,chr12,11338957,11338957,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe196Ser/c.587T>C|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.6646,0.6167,0.6521,0.47,0.22,0.60,,0.077046(N),1.000(P),1.23(T),0.0000(T),0.063,-2.057232,3.46,1.59,-2.610000,0.019000,-0.141000,0.000000,0.001000,0.000000,7.4037
synonymous_variant,TAS2R42,SILENT,NM_181429.2:p.Leu187Leu/c.561A>G,ttA/ttG,LOW,,0.760783,0.9514,rs1650019,,,,,,chr12,11338983,11338983,T,C,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu187Leu/c.561A>G|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.8701,0.8473,0.8688,0.71,0.47,0.84,,,,,,,,,,,,,,,,
missense_variant,TAS2R42,MISSENSE,NM_181429.2:p.Tyr175Phe/c.524A>T,tAt/tTt,MODERATE,,0.540735,0.7569,rs35969491,0.07(T),0.978(D),0.205(N),-0.9760(T),,chr12,11339020,11339020,T,A,het,missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr175Phe/c.524A>T|314|TAS2R42|protein_coding|CODING|NM_181429.2|1|1),,,,,0.6646,0.6167,0.6521,0.47,0.21,0.60,,0.567508(U),1.000(P),1.2(T),0.0000(T),0.07,1.877526,2.66,1.48,0.260000,0.451000,0.328000,0.007000,0.000000,0.000000,4.4507
missense_variant,PRB4,MISSENSE,NM_002723.4:p.Ala209Pro/c.625G>C,Gca/Cca,MODERATE,,0.754992,0.8075,rs1052808,0.95(T),0.0(B),-0.55(N),-1.0342(T),,chr12,11461292,11461292,C,G,het,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala140Pro/c.418G>C|178|PRB4|protein_coding|CODING|NM_001261399.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala209Pro/c.625G>C|247|PRB4|protein_coding|CODING|NM_002723.4|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.7209,0.8429,0.8499,0.78,0.68,0.83,,,1.000(P),"3.56,3.56,3.79(T,T,T)",0.0000(T),0.087,-0.692536,0.916,-1.83,-2.048000,-0.596000,-2.515000,0.001000,0.000000,0.000000,6.4774
synonymous_variant,PRB4,SILENT,NM_002723.4:p.Gly149Gly/c.447T>C,ggT/ggC,LOW,,0.755391,0.8095,rs1052807,,,,,,chr12,11461470,11461470,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly149Gly/c.447T>C|247|PRB4|protein_coding|CODING|NM_002723.4|3|1),intron_variant(MODIFIER|||c.335-95T>C|178|PRB4|protein_coding|CODING|NM_001261399.1|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.7209,0.8429,0.8499,0.78,0.68,0.83,,,,,,,,,,,,,,,,
missense_variant,PRB1,MISSENSE,NM_005039.3:p.Ser276Ala/c.826T>G,Tct/Gct,MODERATE,COSM1127550(2),0.455272,0.4355,rs76504934,0.32(T),"0.02,0.02(B,B)",-0.345(N),-1.0907(T),,chr12,11506211,11506211,A,C,het,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser123Ala/c.367T>G|178|PRB1|protein_coding|CODING|NM_199354.2|4|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser143Ala/c.427T>G|198|PRB1|protein_coding|CODING|NM_199353.2|4|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser276Ala/c.826T>G|331|PRB1|protein_coding|CODING|NM_005039.3|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4192,0.5706,0.668,0.56,0.34,0.66,,,1.000(P),"3.64,3.64,3.64(T,T,T)",0.0000(T),0.046,-1.539278,0.522,-0.658,0.113000,-0.283000,.,0.038000,0.001000,.,4.5503
synonymous_variant,PRB1,SILENT,NM_005039.3:p.Gln252Gln/c.756A>G,caA/caG,LOW,COSM3998681(1),0.226837,0.4216,rs61930108,,,,,,chr12,11506281,11506281,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln119Gln/c.357A>G|198|PRB1|protein_coding|CODING|NM_199353.2|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln252Gln/c.756A>G|331|PRB1|protein_coding|CODING|NM_005039.3|3|1),intron_variant(MODIFIER|||c.314-17A>G|178|PRB1|protein_coding|CODING|NM_199354.2|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1728,0.1715,0.1083,0.12,0.15,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PRB1,SILENT,NM_005039.3:p.Gln229Gln/c.687G>A,caG/caA,LOW,COSN409804,0.0385383,0.0298,rs377208399,,,,,,chr12,11506350,11506350,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln229Gln/c.687G>A|331|PRB1|protein_coding|CODING|NM_005039.3|3|1),intron_variant(MODIFIER|||c.314-86G>A|178|PRB1|protein_coding|CODING|NM_199354.2|3|1),intron_variant(MODIFIER|||c.314-26G>A|198|PRB1|protein_coding|CODING|NM_199353.2|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0194,0.0144,0.008,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRB1,SILENT,NM_005039.3:p.Gly227Gly/c.681C>T,ggC/ggT,LOW,COSN409807,,,rs201055825,,,,,,chr12,11506356,11506356,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly227Gly/c.681C>T|331|PRB1|protein_coding|CODING|NM_005039.3|3|1),intron_variant(MODIFIER|||c.314-92C>T|178|PRB1|protein_coding|CODING|NM_199354.2|3|1),intron_variant(MODIFIER|||c.314-32C>T|198|PRB1|protein_coding|CODING|NM_199353.2|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PRB1,MISSENSE,NM_005039.3:p.Pro123Gln/c.368C>A,cCa/cAa,MODERATE,COSN405349,,,rs74903687,,,,,,chr12,11506669,11506669,G,T,het,"missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro123Gln/c.368C>A|331|PRB1|protein_coding|CODING|NM_005039.3|3|1),intron_variant(MODIFIER|||c.313+55C>A|178|PRB1|protein_coding|CODING|NM_199354.2|3|1),intron_variant(MODIFIER|||c.313+55C>A|198|PRB1|protein_coding|CODING|NM_199353.2|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRB1,SILENT,NM_005039.3:p.Gln48Gln/c.144G>A,caG/caA,LOW,,0.688299,0.8224,rs10845341,,,,,,chr12,11506893,11506893,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|331|PRB1|protein_coding|CODING|NM_005039.3|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|198|PRB1|protein_coding|CODING|NM_199353.2|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|178|PRB1|protein_coding|CODING|NM_199354.2|3|1)","GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5859,0.7334,0.7684,0.73,0.63,0.78,,,,,,,,,,,,,,,,
synonymous_variant,BCL2L14,SILENT,NM_138722.1:p.Tyr162Tyr/c.486C>T,taC/taT,LOW,,0.464856,0.4712,rs879732,,,,,,chr12,12240199,12240199,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr162Tyr/c.486C>T|252|BCL2L14|protein_coding|CODING|NM_030766.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr162Tyr/c.486C>T|327|BCL2L14|protein_coding|CODING|NM_138722.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr162Tyr/c.486C>T|327|BCL2L14|protein_coding|CODING|NM_138723.1|3|1)","H1ESC:H3K27me3,H1ESC:H3K27ac",,,,0.4335,0.4582,0.5775,0.52,0.41,0.58,,,,,,,,,,,,,,,,
synonymous_variant,BCL2L14,SILENT,NM_138722.1:p.Leu233Leu/c.697T>C,Ttg/Ctg,LOW,,0.160144,0.0188,rs11054683,,,,,,chr12,12247616,12247616,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu233Leu/c.697T>C|327|BCL2L14|protein_coding|CODING|NM_138722.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu233Leu/c.697T>C|327|BCL2L14|protein_coding|CODING|NM_138723.1|5|1),3_prime_UTR_variant(MODIFIER||91|c.*91T>C|252|BCL2L14|protein_coding|CODING|NM_030766.1|5|1)","IMR90:H2BK120ac,IMR90:H3K4ac",,,,0.1227,0.1671,0.2525,0.23,0.21,0.25,,,,,,,,,,,,,,,,
missense_variant,LRP6,MISSENSE,NM_002336.2:p.Val1062Ile/c.3184G>A,Gtt/Att,MODERATE,,0.885583,0.9196,rs2302685,1(T),"0.0,0.0(B,B)",-1.285(N),-0.9359(T),,chr12,12301898,12301898,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1062Ile/c.3184G>A|1613|LRP6|protein_coding|CODING|NM_002336.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.911,0.9121,0.83,0.84,0.87,0.82,,0.000027(N),0.000(P),"-2.67,-2.67(D,D)",0.0000(T),0.14,0.954292,5.45,5.45,-0.269000,0.901000,5.988000,0.996000,1.000000,1.000000,11.4445
synonymous_variant,LRP6,SILENT,NM_002336.2:p.Pro448Pro/c.1344C>G,ccC/ccG,LOW,COSM3753008(1),0.048722,0.002,rs10082834,,,,,,chr12,12334006,12334006,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro448Pro/c.1344C>G|1613|LRP6|protein_coding|CODING|NM_002336.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0307,0.147,0.0815,0.07,0.04,0.09,,,,,,,,,,,,,,,,
synonymous_variant,LRP6,SILENT,NM_002336.2:p.Cys308Cys/c.924T>C,tgT/tgC,LOW,COSM3753010(1),0.138179,0.0079,rs7978064,,,,,,chr12,12336966,12336966,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys308Cys/c.924T>C|1613|LRP6|protein_coding|CODING|NM_002336.2|5|1),HepG2:H3K36me3,,,,0.0317,0.1744,0.0875,0.16,0.28,0.09,,,,,,,,,,,,,,,,
synonymous_variant,MANSC1,SILENT,NM_018050.2:p.Ser409Ser/c.1227G>A,tcG/tcA,LOW,,0.00259585,0,rs75750739,,,,,,chr12,12483030,12483030,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser409Ser/c.1227G>A|431|MANSC1|protein_coding|CODING|NM_018050.2|4|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HepG2:H3K36me3",,,,0.0051,0.0043,0.005,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,MANSC1,SILENT,NM_018050.2:p.Leu328Leu/c.982C>T,Cta/Tta,LOW,COSM147444(2),0.597244,0.38,rs1861676,,,,,,chr12,12483275,12483275,G,A,het,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu328Leu/c.982C>T|431|MANSC1|protein_coding|CODING|NM_018050.2|4|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HepG2:H3K36me3",,,,0.7117,0.6628,0.7266,0.70,0.58,0.75,,,,,,,,,,,,,,,,
synonymous_variant,MANSC1,SILENT,NM_018050.2:p.Leu182Leu/c.544T>C,Ttg/Ctg,LOW,COSM147446(1),0.581869,0.375,rs4763282,,,,,,chr12,12483713,12483713,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu182Leu/c.544T>C|431|MANSC1|protein_coding|CODING|NM_018050.2|4|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HepG2:H3K36me3",,,,0.7106,0.6614,0.7306,0.68,0.52,0.76,,,,,,,,,,,,,,,,
synonymous_variant,DUSP16,SILENT,NM_030640.2:p.Thr473Thr/c.1419C>T,acC/acT,LOW,,0.0303514,0,rs12815760,,,,,,chr12,12630346,12630346,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr473Thr/c.1419C>T|665|DUSP16|protein_coding|CODING|NM_030640.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0389,0.0974,0.07,0.01,0.09,,,,,,,,,,,,,,,,
missense_variant,GPR19,MISSENSE,NM_006143.2:p.Val189Ile/c.565G>A,Gtc/Atc,MODERATE,,0.88778,0.997,rs4763862,1(T),0.001(B),0.93(L),-0.9097(T),,chr12,12814818,12814818,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val189Ile/c.565G>A|415|GPR19|protein_coding|CODING|NM_006143.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3",,,,0.9489,0.9222,0.9304,0.87,0.75,0.93,,0.012105(N),1.000(P),"1.24,1.24(T,T)",0.0000(T),0.063,-2.308120,5.49,-1.28,-1.214000,-0.850000,-0.369000,0.034000,0.870000,0.463000,6.9813
missense_variant,CDKN1B,MISSENSE,NM_004064.4:p.Val109Gly/c.326T>G,gTc/gGc,MODERATE,COSM4146812(1),0.359225,0.0556,rs2066827,0.34(T),0.016(B),1.355(L),-0.9551(T),,chr12,12871099,12871099,T,G,het,missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val109Gly/c.326T>G|198|CDKN1B|protein_coding|CODING|NM_004064.4|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.319,0.2176,0.2425,0.39,0.69,0.24,,0.372461(N),0.002(P),"0.27,0.27(T,T)",0.0000(T),0.189,1.983905,5.51,-0.898,0.528000,-0.156000,1.199000,0.946000,0.977000,0.999000,10.916
synonymous_variant,DDX47,SILENT,NM_016355.3:p.Ile50Ile/c.150C>T,atC/atT,LOW,,0.386781,0.5992,rs1051374,,,,,,chr12,12967127,12967127,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile50Ile/c.150C>T|455|DDX47|protein_coding|CODING|NM_016355.3|2|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile50Ile/c.150C>T|406|DDX47|protein_coding|CODING|NM_201224.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.4499,0.4121,0.2734,0.27,0.26,0.28,,,,,,,,,,,,,,,,
synonymous_variant,GPRC5D,SILENT,NM_018654.1:p.Asp238Asp/c.714C>T,gaC/gaT,LOW,,0.206669,0.1865,rs4630382,,,,,,chr12,13102605,13102605,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp238Asp/c.714C>T|345|GPRC5D|protein_coding|CODING|NM_018654.1|1|1),"GM12878:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3006,0.2046,0.3817,0.29,0.08,0.39,,,,,,,,,,,,,,,,
missense_variant,GPRC5D,MISSENSE,NM_018654.1:p.Ala18Asp/c.53C>A,gCc/gAc,MODERATE,COSM3998703(1),0.0662939,0.1438,rs3741822,0.22(T),0.0(B),0(N),-0.9515(T),,chr12,13103266,13103266,G,T,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala18Asp/c.53C>A|345|GPRC5D|protein_coding|CODING|NM_018654.1|1|1),"GM12878:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0593,0.0677,0.0586,0.05,0.02,0.07,,0.824802(N),1.000(P),"1.94,1.94,-2.8(T,T,D)",0.0128(T),0.465,-1.105125,5.87,0.18,-0.274000,-0.172000,0.248000,0.002000,0.008000,0.030000,7.0456
synonymous_variant,KIAA1467,SILENT,NM_020853.1:p.Val187Val/c.561A>G,gtA/gtG,LOW,,0.63139,0.502,rs3741818,,,,,,chr12,13214537,13214537,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val187Val/c.561A>G|622|KIAA1467|protein_coding|CODING|NM_020853.1|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:Gata2,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.7239,0.7061,0.827,0.74,0.53,0.86,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1467,SILENT,NM_020853.1:p.Asp443Asp/c.1329T>C,gaT/gaC,LOW,,0.984425,0.999,rs1386005,,,,,,chr12,13221606,13221606,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp443Asp/c.1329T>C|622|KIAA1467|protein_coding|CODING|NM_020853.1|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9928,0.999,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GRIN2B,SILENT,NM_000834.3:p.His1399His/c.4197T>C,caT/caC,LOW,COSM3998717(1),0.217252,0.1835,rs1805247,,,,,,chr12,13715975,13715975,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His1399His/c.4197T>C|1484|GRIN2B|protein_coding|CODING|NM_000834.3|13|1),H1ESC:H3K36me3,,RCV000084723.1|RCV000117200.2,,0.2403,0.1196,0.0815,0.17,0.32,0.09,,,,,,,,,,,,,,,,
synonymous_variant,GRIN2B,SILENT,NM_000834.3:p.Ile602Ile/c.1806C>T,atC/atT,LOW,,0.0894569,0.1637,rs1805522,,,,,,chr12,13761741,13761741,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile602Ile/c.1806C>T|1484|GRIN2B|protein_coding|CODING|NM_000834.3|9|1),,,RCV000117192.2|RCV000125326.1,,0.1483,0.0663,0.0298,0.04,0.04,0.04,,,,,,,,,,,,,,,,
synonymous_variant,GRIN2B,SILENT,NM_000834.3:p.Pro122Pro/c.366C>G,ccC/ccG,LOW,,0.441494,0.4931,rs7301328,,,,,,chr12,14018777,14018777,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro122Pro/c.366C>G|1484|GRIN2B|protein_coding|CODING|NM_000834.3|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,RCV000117198.2|RCV000125320.1,,0.4898,0.3112,0.3618,0.43,0.49,0.40,,,,,,,,,,,,,,,,
missense_variant,ATF7IP,MISSENSE,NM_181352.1:p.Lys538Arg/c.1613A>G,aAa/aGa,MODERATE,COSM1128636(1),0.439497,0.6181,rs3213764,0.05(D),"0.794,0.736,0.831(P,P,P)",1.7(L),-0.9637(T),,chr12,14587301,14587301,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys530Arg/c.1589A>G|1270|ATF7IP|protein_coding|CODING|NM_018179.4|3|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys538Arg/c.1613A>G|1278|ATF7IP|protein_coding|CODING|NM_181352.1|3|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys529Arg/c.1586A>G|1269|ATF7IP|protein_coding|CODING|NM_001286514.1|3|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys529Arg/c.1586A>G|1105|ATF7IP|protein_coding|CODING|NM_001286515.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",Prostate_specific_antigen_levels,,,0.4571,0.3674,0.496,0.42,0.30,0.49,,0.043632(N),0.027(P),"1.95,1.96,2.03,1.95,1.95(T,T,T,T,T)",0.0000(T),0.174,3.832458,4.43,4.43,0.383000,1.935000,2.126000,0.861000,1.000000,0.993000,10.6344
missense_variant,PLBD1,MISSENSE,NM_024829.5:p.Val265Ile/c.793G>A,Gtc/Atc,MODERATE,,0.885184,0.9861,rs7957558,1(T),0.001(B),-0.875(N),-0.9725(T),,chr12,14688644,14688644,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val265Ile/c.793G>A|553|PLBD1|protein_coding|CODING|NM_024829.5|6|1),K562:H3K36me3,,,,0.9683,0.9553,0.9841,0.88,0.70,0.98,,0.000230(N),1.000(P),2.39(T),0.0000(T),0.034,-0.690214,5.69,3.14,-0.550000,0.410000,1.571000,0.342000,0.990000,1.000000,6.491
synonymous_variant,PLBD1,SILENT,NM_024829.5:p.Pro16Pro/c.48A>G,ccA/ccG,LOW,COSM4146929(1),0.923922,0.9861,rs7954623,,,,,,chr12,14720583,14720583,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro16Pro/c.48A>G|553|PLBD1|protein_coding|CODING|NM_024829.5|1|1),upstream_gene_variant(MODIFIER||83|||PLBD1-AS1||NON_CODING|NR_120465.1||1)","H1ESC:PolII,K562:H3K4me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.9724,0.9741,0.9871,,,,,,,,,,,,,,,,,,,
synonymous_variant,GUCY2C,SILENT,NM_004963.3:p.Ile674Ile/c.2022C>T,atC/atT,LOW,,0.823482,0.9911,rs10772800,,,,,,chr12,14794062,14794062,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile674Ile/c.2022C>T|1073|GUCY2C|protein_coding|CODING|NM_004963.3|18|1),,,,,0.9734,0.951,0.992,0.82,0.49,0.99,,,,,,,,,,,,,,,,
missense_variant,GUCY2C,MISSENSE,NM_004963.3:p.Phe281Leu/c.843T>G,ttT/ttG,MODERATE,,0.986222,1,rs1420635,0.31(T),0.015(B),1.01(L),-1.0047(T),,chr12,14829893,14829893,A,C,hom,missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe281Leu/c.843T>G|1073|GUCY2C|protein_coding|CODING|NM_004963.3|7|1),,,,,1,0.9986,1,0.99,0.96,1.00,,0.000000(D),0.999(P),-0.69(T),0.0000(T),0.435,0.423279,5.77,-1.85,-0.281000,-0.576000,0.120000,0.021000,0.010000,0.051000,10.1916
synonymous_variant,C12orf60,SILENT,NM_175874.3:p.Ala228Ala/c.684G>C,gcG/gcC,LOW,COSM4146931(1),0.105032,0.0317,rs17761825,,,,,,chr12,14976553,14976553,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala228Ala/c.684G>C|245|C12orf60|protein_coding|CODING|NM_175874.3|2|1),,,,,0.1002,0.1945,0.1879,0.15,0.07,0.20,,,,,,,,,,,,,,,,
synonymous_variant,ERP27,SILENT,NM_001300784.1:p.Thr4Thr/c.12T>G,acT/acG,LOW,,0.998203,1,rs2445371,,,,,,chr12,15081897,15081897,A,C,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr4Thr/c.12T>G|172|ERP27|protein_coding|CODING|NM_001300784.1|1|1),intron_variant(MODIFIER|||c.333+5893T>G|273|ERP27|protein_coding|CODING|NM_152321.3|3|1)",,,,,1,0.9986,1,,,,,,,,,,,,,,,,,,,
missense_variant,ERP27,MISSENSE,NM_001300784.1:p.Thr4Ile/c.11C>T,aCt/aTt,MODERATE,,0.28774,0.0893,rs11056243,0.12(T),,,-0.9548(T),,chr12,15081898,15081898,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr4Ile/c.11C>T|172|ERP27|protein_coding|CODING|NM_001300784.1|1|1),intron_variant(MODIFIER|||c.333+5892C>T|273|ERP27|protein_coding|CODING|NM_152321.3|3|1)",,,,,0.2843,0.389,0.3748,,,,,,1.000(P),0.7(T),0.0000(T),0.164,1.974129,4.23,0.159,0.313000,-0.071000,-1.255000,0.018000,0.000000,0.000000,3.2386
synonymous_variant,ARHGDIB,SILENT,NM_001175.5:p.Ala168Ala/c.504G>C,gcG/gcC,LOW,COSM3764399(1),0.481829,0.5714,rs4703,0(D),,,-0.9417(T),,chr12,15095558,15095558,C,G,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala168Ala/c.504G>C|201|ARHGDIB|protein_coding|CODING|NM_001175.5|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3681,0.5418,0.5606,0.49,0.42,0.53,,0.000079(D),0.000(P),,0.0000(T),.,1.255670,4.41,0.426,-0.126000,-0.017000,1.293000,0.958000,0.997000,1.000000,2.097
synonymous_variant,ARHGDIB,SILENT,NM_001175.5:p.Asp14Asp/c.42T>C,gaT/gaC,LOW,,1,1,rs2430711,,,,,,chr12,15103605,15103605,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp14Asp/c.42T>C|201|ARHGDIB|protein_coding|CODING|NM_001175.5|2|1),"CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,GM12878:MEF2C,GM12878:H3K79me2,GM12878:MEF2A,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM12878:BCL11A,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,1,1,1,1.00,1.00,1.00,,,1.000(P),,,.,-1.819442,0.603,-0.591,-1.121000,-1.108000,-1.475000,0.067000,0.002000,0.312000,.
synonymous_variant,RERG,SILENT,NM_032918.2:p.Asn155Asn/c.465C>T,aaC/aaT,LOW,COSM3998724(2),0.245407,0.3016,rs1055151,,,,,,chr12,15262179,15262179,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn136Asn/c.408C>T|180|RERG|protein_coding|CODING|NM_001190726.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn155Asn/c.465C>T|199|RERG|protein_coding|CODING|NM_032918.2|5|1)",NHEK:H3K27me3,,,,0.3047,0.2478,0.3012,0.25,0.15,0.30,,,,,,,,,,,,,,,,
synonymous_variant,PTPRO,SILENT,NM_030667.2:p.Gly696Gly/c.2088C>A,ggC/ggA,LOW,COSM3753074(1),0.403155,0.127,rs6488782,,,,,,chr12,15679120,15679120,C,A,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly696Gly/c.2088C>A|1188|PTPRO|protein_coding|CODING|NM_002848.3|12|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly696Gly/c.2088C>A|1216|PTPRO|protein_coding|CODING|NM_030667.2|12|1)","HUVEC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HMEC:DNase1,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1",,,,0.3753,0.5086,0.4235,0.45,0.53,0.40,,,,,,,,,,,,,,,,
synonymous_variant,SLC15A5,SILENT,NM_001170798.1:p.Asn521Asn/c.1563C>T,aaC/aaT,LOW,,0.569688,0.7024,rs3942536,,,,,,chr12,16347308,16347308,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn521Asn/c.1563C>T|579|SLC15A5|protein_coding|CODING|NM_001170798.1|8|1),,,,,0.7485,0.5288,0.4652,0.47,0.44,0.48,,,,,,,,,,,,,,,,
missense_variant,SLC15A5,MISSENSE,NM_001170798.1:p.Asp494Glu/c.1482T>A,gaT/gaA,MODERATE,,0.995807,1,rs1671511,0.59(T),,-1.01(N),-0.9440(T),,chr12,16369828,16369828,A,T,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp494Glu/c.1482T>A|579|SLC15A5|protein_coding|CODING|NM_001170798.1|7|1),splice_region_variant(LOW|||c.1482T>A|579|SLC15A5|protein_coding|CODING|NM_001170798.1|7|1)",,,,,1,0.9971,1,1.00,0.98,1.00,,0.000034(N),1.000(P),0.04(T),0.0000(T),0.028,0.227827,5.15,5.15,-0.257000,0.983000,3.664000,0.966000,1.000000,1.000000,7.7269
missense_variant,SLC15A5,MISSENSE,NM_001170798.1:p.Pro271Leu/c.812C>T,cCg/cTg,MODERATE,,0.94369,0.9921,rs1527014,0.67(T),,-1.935(N),-1.0276(T),,chr12,16397677,16397677,G,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro271Leu/c.812C>T|579|SLC15A5|protein_coding|CODING|NM_001170798.1|4|1),,,,,0.9816,0.9438,0.9642,0.94,0.88,0.97,,0.012813(N),1.000(P),3.83(T),0.0000(T),0.053,-1.138123,4.85,2.35,-0.361000,0.066000,2.748000,0.005000,0.001000,0.988000,3.1154
missense_variant,SLC15A5,MISSENSE,NM_001170798.1:p.Arg252Leu/c.755G>T,cGt/cTt,MODERATE,,0.501997,0.5069,rs1852450,0.02(D),,0.69(N),-1.0350(T),,chr12,16397734,16397734,C,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg252Leu/c.755G>T|579|SLC15A5|protein_coding|CODING|NM_001170798.1|4|1),splice_region_variant(LOW|||c.755G>T|579|SLC15A5|protein_coding|CODING|NM_001170798.1|4|1)",,,,,0.6431,0.4597,0.4235,0.45,0.47,0.44,,0.007554(N),0.155(P),3.8(T),0.0000(T),0.073,-1.029233,4.99,4.09,0.655000,1.432000,0.751000,0.070000,0.992000,0.594000,9.3636
synonymous_variant,SLC15A5,SILENT,NM_001170798.1:p.Tyr112Tyr/c.336C>T,taC/taT,LOW,,0.993411,1,rs1671487,,,,,,chr12,16430284,16430284,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr112Tyr/c.336C>T|579|SLC15A5|protein_coding|CODING|NM_001170798.1|1|1),,,,,1,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,PIK3C2G,MISSENSE,NM_001288772.1:p.Pro146Leu/c.437C>T,cCa/cTa,MODERATE,COSM3998726(1),0.353235,0.3046,rs11044004,0.38(T),"0.009,0.004(B,B)",0.55(N),-1.0539(T),,chr12,18435452,18435452,C,T,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro146Leu/c.437C>T|1486|PIK3C2G|protein_coding|CODING|NM_001288772.1|2|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro146Leu/c.437C>T|1445|PIK3C2G|protein_coding|CODING|NM_004570.5|2|1),5_prime_UTR_variant(MODIFIER||223|c.-223C>T|1264|PIK3C2G|protein_coding|CODING|NM_001288774.1|2|1)",,,,,0.3139,0.4078,0.3917,0.39,0.36,0.40,,0.000263(N),1.000(P),"1.22,-0.08,-0.08,-0.08(T,T,T,T)",0.0000(T),0.079,1.474091,4.79,3.9,0.655000,1.634000,0.398000,0.051000,0.028000,0.003000,9.1747
synonymous_variant,PDE3A,SILENT,NM_000921.4:p.Val398Val/c.1194C>T,gtC/gtT,LOW,,0.910543,1,rs10743380,,,,,,chr12,20766559,20766559,C,T,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val398Val/c.1194C>T|1141|PDE3A|protein_coding|CODING|NM_000921.4|3|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val76Val/c.228C>T|819|PDE3A|protein_coding|CODING|NM_001244683.1|2|1)",HeLa-S3:H3K36me3,,,,0.9346,0.9424,0.9364,0.89,0.81,0.93,,,,,,,,,,,,,,,,
synonymous_variant,SLCO1C1,SILENT,NM_001145946.1:p.Ser147Ser/c.441C>T,tcC/tcT,LOW,,0.241613,0.0516,rs7963279,,,,,,chr12,20864356,20864356,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser29Ser/c.87C>T|612|SLCO1C1|protein_coding|CODING|NM_001145944.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser147Ser/c.441C>T|663|SLCO1C1|protein_coding|CODING|NM_001145945.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser147Ser/c.441C>T|730|SLCO1C1|protein_coding|CODING|NM_001145946.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser147Ser/c.441C>T|712|SLCO1C1|protein_coding|CODING|NM_017435.4|5|1)",HUVEC:H3K27me3,,,,0.3078,0.2579,0.3062,0.31,0.29,0.32,,,,,,,,,,,,,,,,
synonymous_variant,SLCO1C1,SILENT,NM_001145946.1:p.Ala425Ala/c.1275A>G,gcA/gcG,LOW,COSM147455(1),0.0786741,0.1855,rs16923154,,,,,,chr12,20885931,20885931,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala307Ala/c.921A>G|612|SLCO1C1|protein_coding|CODING|NM_001145944.1|8|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala376Ala/c.1128A>G|663|SLCO1C1|protein_coding|CODING|NM_001145945.1|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala425Ala/c.1275A>G|730|SLCO1C1|protein_coding|CODING|NM_001145946.1|11|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala425Ala/c.1275A>G|712|SLCO1C1|protein_coding|CODING|NM_017435.4|10|1)",,,,,0.0317,0.0288,0.0865,0.07,0.05,0.08,,,,,,,,,,,,,,,,
synonymous_variant,SLCO1C1,SILENT,NM_001145946.1:p.His649His/c.1947T>C,caT/caC,LOW,COSM1135345(1),0.477436,0.5913,rs10841611,,,,,,chr12,20903757,20903757,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His531His/c.1593T>C|612|SLCO1C1|protein_coding|CODING|NM_001145944.1|12|1),synonymous_variant(LOW|SILENT|caT/caC|p.His649His/c.1947T>C|730|SLCO1C1|protein_coding|CODING|NM_001145946.1|15|1),intron_variant(MODIFIER|||c.1769+31T>C|663|SLCO1C1|protein_coding|CODING|NM_001145945.1|14|1),intron_variant(MODIFIER|||c.1916+31T>C|712|SLCO1C1|protein_coding|CODING|NM_017435.4|14|1)",,,,,0.6462,0.5735,0.504,0.45,0.24,0.55,,,,,,,,,,,,,,,,
missense_variant,SLCO1C1,MISSENSE,NM_001145946.1:p.Ser677Phe/c.2030C>T,tCt/tTt,MODERATE,COSM3998737(2),0.469449,0.5923,rs6487138,0.04(D),"0.789,0.498(P,P)",,-0.9203(T),,chr12,20905250,20905250,C,T,het,"missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser559Phe/c.1676C>T|612|SLCO1C1|protein_coding|CODING|NM_001145944.1|13|1),missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser677Phe/c.2030C>T|730|SLCO1C1|protein_coding|CODING|NM_001145946.1|16|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu594Leu/c.1780C>T|663|SLCO1C1|protein_coding|CODING|NM_001145945.1|15|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu643Leu/c.1927C>T|712|SLCO1C1|protein_coding|CODING|NM_017435.4|15|1)",,,,,0.6094,0.5677,0.495,0.44,0.25,0.54,,0.003979(N),0.000(P),"1.05,1.05,1.11(T,T,T)",0.0000(T),0.217,3.120305,5.37,5.37,0.655000,2.797000,2.654000,0.982000,1.000000,1.000000,16.1483
missense_variant,SLCO1B3,MISSENSE,NM_019844.3:p.Ser112Ala/c.334T>G,Tct/Gct,MODERATE,COSM3998738(1),0.702476,0.6974,rs4149117,1(T),"0.001,0.001,0.001(B,B,B)",-1.095(N),-0.9378(T),,chr12,21011480,21011480,T,G,hom,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser112Ala/c.334T>G|702|SLCO1B3|protein_coding|CODING|NM_019844.3|5|1),,,,,0.9131,0.8372,0.8648,0.72,0.45,0.86,,0.000006(N),0.000(P),"0.68,0.68,0.68,0.68,-1.31,0.68,-1.31(T,T,T,T,T,T,T)",0.0000(T),0.308,-0.002855,3.99,3.99,-0.366000,0.797000,5.297000,0.648000,0.987000,0.998000,13.2898
missense_variant,SLCO1B3,MISSENSE,NM_019844.3:p.Met233Ile/c.699G>A,atG/atA,MODERATE,COSM3998740(1),0.702476,0.6984,rs7311358,0.37(T),"0.03,0.007(B,B)",-0.135(N),-1.0456(T),,chr12,21015760,21015760,G,A,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met233Ile/c.699G>A|702|SLCO1B3|protein_coding|CODING|NM_019844.3|8|1),,,,,0.9131,0.8372,0.8648,0.72,0.45,0.86,,0.008175(N),0.000(P),"1.31,1.31,1.31,1.31,1.31,1.31(T,T,T,T,T,T)",0.0000(T),0.273,1.706783,3.9,-2.0,0.460000,-0.125000,-1.540000,0.847000,0.065000,0.001000,4.723
synonymous_variant,SLCO1B3,SILENT,NM_019844.3:p.Ala519Ala/c.1557A>G,gcA/gcG,LOW,COSM3998741(1),0.702875,0.6974,rs2053098,,,,,,chr12,21036411,21036411,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala519Ala/c.1557A>G|702|SLCO1B3|protein_coding|CODING|NM_019844.3|13|1),HUVEC:DNase1,,,,0.9141,0.8357,0.8648,0.72,0.45,0.86,,,,,,,,,,,,,,,,
synonymous_variant,SLCO1B3,SILENT,NM_019844.3:p.Gly611Gly/c.1833G>A,ggG/ggA,LOW,COSM3753092(1),0.678714,0.7312,rs3764006,,,,,,chr12,21054369,21054369,G,A,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly611Gly/c.1833G>A|702|SLCO1B3|protein_coding|CODING|NM_019844.3|15|1),,,,,0.9407,0.7882,0.8757,0.71,0.36,0.89,,,,,,,,,,,,,,,,
missense_variant,SLCO1B7,MISSENSE,NM_001009562.4:p.Val167Ala/c.500T>C,gTa/gCa,MODERATE,COSM3753093(1),0.959665,0.998,rs1546308,0.39(T),"0.001,0.001(B,B)",-1.63(N),-0.9702(T),,chr12,21176135,21176135,T,C,hom,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val167Ala/c.500T>C|640|SLCO1B7|protein_coding|CODING|NM_001009562.4|5|1),,,,,0.9724,0.9078,0.9443,0.95,0.96,0.94,,0.006543(N),1.000(P),"-1.39,-1.39,-1.26(T,T,T)",0.0000(T),0.028,-0.326432,2.54,2.54,-1.063000,0.392000,2.365000,0.129000,0.002000,0.033000,7.439
missense_variant,SLCO1B7,MISSENSE,NM_001009562.4:p.Ala338Thr/c.1012G>A,Gct/Act,MODERATE,COSM3753094(2),0.473842,0.3829,rs11045689,0.41(T),"0.012,0.008(B,B)",-0.27(N),-0.9471(T),,chr12,21201663,21201663,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala338Thr/c.1012G>A|640|SLCO1B7|protein_coding|CODING|NM_001009562.4|8|1),,,,,0.8037,0.634,0.6402,0.51,0.21,0.66,,0.028113(N),1.000(P),"-1.49,-1.49,-1.53(T,T,D)",0.0000(T),0.03,-0.217340,3.45,-4.01,-0.507000,-0.643000,-0.874000,0.000000,0.000000,0.000000,3.7602
synonymous_variant,SLCO1B7,SILENT,NM_001009562.4:p.Asn628Asn/c.1884C>T,aaC/aaT,LOW,,0.140575,0.4663,rs73241801,,,,,,chr12,21243001,21243001,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn628Asn/c.1884C>T|640|SLCO1B7|protein_coding|CODING|NM_001009562.4|13|1),,,,,0.0501,0.0476,0.0606,0.05,0.06,0.04,,,,,,,,,,,,,,,,
missense_variant,SLCO1B1,MISSENSE,NM_006446.4:p.Asn130Asp/c.388A>G,Aat/Gat,MODERATE,COSM4146945(1),0.622404,0.7619,rs2306283,0.67(T),0.003(B),0.495(N),-0.9832(T),,chr12,21329738,21329738,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn130Asp/c.388A>G|691|SLCO1B1|protein_coding|CODING|NM_006446.4|5|1),,,,,0.547,0.4726,0.4026,0.53,0.77,0.40,,0.189390(N),1.000(P),1.12(T),0.0000(T),0.005,-0.578401,3.52,-2.63,-1.840000,-0.797000,-0.302000,0.005000,0.000000,0.000000,9.285
missense_variant,SLCO1B1,MISSENSE,NM_006446.4:p.Val174Ala/c.521T>C,gTg/gCg,MODERATE,,0.0876597,0.123,rs4149056,0(D),0.996(D),3.35(M),-0.9406(T),,chr12,21331549,21331549,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val174Ala/c.521T>C|691|SLCO1B1|protein_coding|CODING|NM_006446.4|6|1),,"Sex_hormone_binding_globulin_levels,Bilirubin_levels,Response_to_statin_therapy",,,0.0429,0.134,0.161,0.11,0.04,0.16,,0.001300(N),1.000(P),0.95(T),0.0014(T),0.192,1.923669,3.62,3.62,0.260000,1.641000,7.326000,0.015000,0.058000,1.000000,12.6758
synonymous_variant,SLCO1B1,SILENT,NM_006446.4:p.Leu191Leu/c.571T>C,Ttg/Ctg,LOW,COSM3753095(2),0.367412,0.2431,rs4149057,,,,,,chr12,21331599,21331599,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu191Leu/c.571T>C|691|SLCO1B1|protein_coding|CODING|NM_006446.4|6|1),,,,,0.453,0.5043,0.6074,0.49,0.22,0.62,,,,,,,,,,,,,,,,
synonymous_variant,SLCO1B1,SILENT,NM_006446.4:p.Phe199Phe/c.597C>T,ttC/ttT,LOW,COSM3749210(1),0.415535,0.5109,rs2291075,,,,,,chr12,21331625,21331625,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe199Phe/c.597C>T|691|SLCO1B1|protein_coding|CODING|NM_006446.4|6|1),,,,,0.2014,0.3314,0.3966,0.45,0.54,0.40,,,,,,,,,,,,,,,,
missense_variant,GYS2,MISSENSE,NM_021957.3:p.Met363Val/c.1087A>G,Atg/Gtg,MODERATE,,0.740615,0.7629,rs2306180,1(T),0.0(B),-3.19(N),-0.9285(T),,chr12,21713402,21713402,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met363Val/c.1087A>G|703|GYS2|protein_coding|CODING|NM_021957.3|8|1),"HUVEC:DNase1,HSMM:DNase1",,,,0.8098,0.7579,0.7704,0.74,0.68,0.78,,0.000012(N),1.000(P),0.55(T),0.0000(T),0.053,-0.587682,4.87,3.98,-0.213000,0.675000,2.620000,0.905000,0.998000,0.998000,10.3642
synonymous_variant,LDHB,SILENT,NM_001174097.1:p.Thr87Thr/c.261T>C,acT/acC,LOW,,0.952276,1,rs1650294,,,,,,chr12,21797029,21797029,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr87Thr/c.261T>C|334|LDHB|protein_coding|CODING|NM_001174097.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr87Thr/c.261T>C|334|LDHB|protein_coding|CODING|NM_002300.6|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9942,0.996,0.95,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ABCC9,SILENT,NM_005691.3:p.Pro432Pro/c.1296T>C,ccT/ccC,LOW,,0.997204,1,rs10770865,,,,,,chr12,22063115,22063115,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro432Pro/c.1296T>C|1549|ABCC9|protein_coding|CODING|NM_005691.3|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro432Pro/c.1296T>C|1549|ABCC9|protein_coding|CODING|NM_020297.3|8|1)",,,RCV000038583.1|RCV000123452.1,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CMAS,SILENT,NM_018686.4:p.Tyr238Tyr/c.714C>T,taC/taT,LOW,COSM3721283(1),0.253195,0.4524,rs10841930,,,,,,chr12,22213786,22213786,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr238Tyr/c.714C>T|434|CMAS|protein_coding|CODING|NM_018686.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.408,0.1902,0.0885,0.12,0.15,0.10,,,,,,,,,,,,,,,,
synonymous_variant,ST8SIA1,SILENT,NM_003034.3:p.Ile212Ile/c.636T>C,atT/atC,LOW,,0.810104,0.8462,rs386606889,,,,,,chr12,22354921,22354921,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile212Ile/c.636T>C|356|ST8SIA1|protein_coding|CODING|NM_003034.3|5|1),,,,,0.9427,0.8689,0.7654,0.76,0.73,0.78,,,,,,,,,,,,,,,,
synonymous_variant,C2CD5,SILENT,NM_001286175.1:p.Asp1021Asp/c.3063T>C,gaT/gaC,LOW,,0.666134,0.1389,rs2063573,,,,-0.9694(T),,chr12,22602796,22602796,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1020Asp/c.3060T>C|1053|C2CD5|protein_coding|CODING|NM_001286173.1|28|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1018Asp/c.3054T>C|1051|C2CD5|protein_coding|CODING|NM_001286174.1|26|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1021Asp/c.3063T>C|1054|C2CD5|protein_coding|CODING|NM_001286175.1|28|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1018Asp/c.3054T>C|1051|C2CD5|protein_coding|CODING|NM_001286176.1|27|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1009Asp/c.3027T>C|1042|C2CD5|protein_coding|CODING|NM_001286177.1|27|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp967Asp/c.2901T>C|1000|C2CD5|protein_coding|CODING|NM_014802.2|25|1)","HUVEC:H3K36me3,GM06990:H3K36me3",,,,0.728,0.7421,0.8917,0.88,0.83,0.90,,,0.000(P),,0.0000(T),.,-0.891017,4.48,-8.97,-3.171000,-3.808000,0.028000,0.318000,0.011000,0.831000,21.8964
synonymous_variant,C2CD5,SILENT,NM_001286175.1:p.Leu326Leu/c.976T>C,Tta/Cta,LOW,,0.00279553,0,rs34981115,,,,,,chr12,22666263,22666263,A,G,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu326Leu/c.976T>C|1053|C2CD5|protein_coding|CODING|NM_001286173.1|9|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu335Leu/c.1003T>C|1051|C2CD5|protein_coding|CODING|NM_001286174.1|8|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu326Leu/c.976T>C|1054|C2CD5|protein_coding|CODING|NM_001286175.1|9|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu335Leu/c.1003T>C|1051|C2CD5|protein_coding|CODING|NM_001286176.1|9|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu326Leu/c.976T>C|1042|C2CD5|protein_coding|CODING|NM_001286177.1|9|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu335Leu/c.1003T>C|1000|C2CD5|protein_coding|CODING|NM_014802.2|9|1)",,,,,0.0051,0,0.0089,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,C12orf77,MISSENSE,NM_001101339.2:p.Leu131Phe/c.393G>C,ttG/ttC,MODERATE,,0.949281,1,rs864161,0(D),0.0(B),0(N),-0.9724(T),,chr12,25148755,25148755,C,G,hom,missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu131Phe/c.393G>C|145|C12orf77|protein_coding|CODING|NM_001101339.2|3|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K4me2",,,,0.9928,0.9726,0.9553,0.96,0.88,1.00,,,1.000(P),"0.39,0.34,0.34(T,T,T)",0.0000(T),0.131,-0.000074,2.72,-5.45,-2.947000,-3.597000,-4.154000,0.000000,0.000000,0.000000,7.6416
missense_variant,LRMP,MISSENSE,NM_001204126.1:p.Leu141Val/c.421C>G,Ctt/Gtt,MODERATE,COSM4146956(1),0.735423,0.8968,rs7969931,1(T),0.003(B),0(N),-0.9810(T),,chr12,25242595,25242595,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu141Val/c.421C>G|499|LRMP|protein_coding|CODING|NM_001204126.1|10|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu141Val/c.421C>G|499|LRMP|protein_coding|CODING|NM_001204127.1|10|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu141Val/c.421C>G|499|LRMP|protein_coding|CODING|NM_006152.3|11|1)","GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.7515,0.7594,0.7416,0.71,0.61,0.76,,0.142193(N),1.000(P),"2.55,2.55,2.55,2.55(T,T,T,T)",0.0000(T),0.059,0.356803,5.45,4.3,-0.294000,0.891000,0.925000,0.979000,1.000000,0.998000,7.2403
missense_variant,LRMP,MISSENSE,NM_001204126.1:p.Cys197Ser/c.590G>C,tGt/tCt,MODERATE,COSM3753102(1),0.499401,0.8095,rs1908946,0.07(T),0.674(P),2.215(M),-0.9245(T),,chr12,25243115,25243115,G,C,het,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys197Ser/c.590G>C|499|LRMP|protein_coding|CODING|NM_001204126.1|12|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys197Ser/c.590G>C|499|LRMP|protein_coding|CODING|NM_001204127.1|12|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys197Ser/c.590G>C|499|LRMP|protein_coding|CODING|NM_006152.3|13|1)","GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.5941,0.5231,0.5189,0.43,0.23,0.53,,0.000003(D),0.000(P),"2.39,2.39,2.39,2.39(T,T,T,T)",0.0000(T),0.51,4.832726,5.76,5.76,0.655000,2.732000,5.897000,0.996000,0.987000,1.000000,17.4676
missense_variant,CASC1,MISSENSE,NM_018272.3:p.Ala639Glu/c.1916C>A,gCa/gAa,MODERATE,,0.996805,1,rs859146,1(T),"0.0,0.0,0.0(B,B,B)",-2.045(N),-0.9820(T),,chr12,25261735,25261735,G,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala633Glu/c.1898C>A|716|CASC1|protein_coding|CODING|NM_001082973.1|15|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala574Glu/c.1721C>A|657|CASC1|protein_coding|CODING|NM_001204101.1|13|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala593Glu/c.1778C>A|676|CASC1|protein_coding|CODING|NM_001204102.1|17|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala639Glu/c.1916C>A|722|CASC1|protein_coding|CODING|NM_018272.3|16|1),downstream_gene_variant(MODIFIER||466||499|LRMP|protein_coding|CODING|NM_001204126.1||1),downstream_gene_variant(MODIFIER||466||499|LRMP|protein_coding|CODING|NM_001204127.1||1),downstream_gene_variant(MODIFIER||466||499|LRMP|protein_coding|CODING|NM_006152.3||1),intron_variant(MODIFIER|||c.2068-40C>A|690|CASC1|protein_coding|CODING|NM_001082972.1|15|1)","GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,1.00,1.00,1.00,,0.065489(N),1.000(P),"1.68,1.68,1.1,1.1(T,T,T,T)",0.0000(T),0.314,-1.258137,5.48,4.31,-0.287000,0.346000,0.488000,0.057000,0.003000,0.001000,7.8699
missense_variant,CASC1,MISSENSE,NM_018272.3:p.Arg39Ser/c.115C>A,Cgt/Agt,MODERATE,COSM3753104(2),0.253794,0.1925,rs10842496,,,2.125(M),-1.0267(T),,chr12,25311489,25311489,G,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg97Ser/c.289C>A|690|CASC1|protein_coding|CODING|NM_001082972.1|4|1),missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg33Ser/c.97C>A|716|CASC1|protein_coding|CODING|NM_001082973.1|3|1),missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg39Ser/c.115C>A|722|CASC1|protein_coding|CODING|NM_018272.3|4|1),5_prime_UTR_variant(MODIFIER||24|c.-24C>A|676|CASC1|protein_coding|CODING|NM_001204102.1|5|1),intron_variant(MODIFIER|||c.4-3143C>A|657|CASC1|protein_coding|CODING|NM_001204101.1|1|1)",,,,,0.2924,0.3487,0.3757,0.29,0.15,0.36,,,0.000(P),,0.0000(T),.,3.401556,5.42,5.42,0.573000,2.535000,3.836000,0.990000,0.971000,1.000000,14.7255
synonymous_variant,KRAS,SILENT,NM_033360.3:p.Arg161Arg/c.483G>A,agG/agA,LOW,,0.997604,1,rs4362222,,,,,,chr12,25368462,25368462,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg161Arg/c.483G>A|189|KRAS|protein_coding|CODING|NM_033360.3|5|1),intron_variant(MODIFIER|||c.451-5617G>A|188|KRAS|protein_coding|CODING|NM_004985.4|4|1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000039808.1,,1,0.9971,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,LMNTD1,MISSENSE,NM_001145728.2:p.Thr387Ser/c.1159A>T,Act/Tct,MODERATE,,0.714856,0.876,rs1479500,,,-0.55(N),-0.9863(T),,chr12,25671759,25671759,T,A,hom,"missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr303Ser/c.907A>T|325|LMNTD1|protein_coding|CODING|NM_001145727.2|6|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr387Ser/c.1159A>T|409|LMNTD1|protein_coding|CODING|NM_001145728.2|8|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr347Ser/c.1039A>T|369|LMNTD1|protein_coding|CODING|NM_001145729.1|7|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr269Ser/c.805A>T|291|LMNTD1|protein_coding|CODING|NM_001256266.1|8|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr366Ser/c.1096A>T|388|LMNTD1|protein_coding|CODING|NM_152590.3|7|1)","HUVEC:H3K27me3,IMR90:DNase1,NH-A:DNase1,NHEK:H3K4me2,NHEK:DNase1",,,,0.7117,0.7248,0.7942,0.74,0.58,0.83,,,1.000(P),,0.0000(T),.,-0.186433,4.95,-4.07,-0.336000,-1.198000,-0.502000,0.317000,0.000000,0.000000,2.7164
missense_variant,BHLHE41,MISSENSE,NM_030762.2:p.Ala298Val/c.893C>T,gCg/gTg,MODERATE,,0.370607,0.5347,rs11048413,0.28(T),0.001(B),0(N),-0.9389(T),,chr12,26275555,26275555,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala298Val/c.893C>T|482|BHLHE41|protein_coding|CODING|NM_030762.2|5|1),"K562:H3K4me3,HSMM:H2AZ,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.2566,0.5922,0.507,,,,,0.000955(U),0.000(P),0.41(T),0.0000(T),0.153,0.936503,2.31,1.37,0.089000,0.105000,-0.097000,0.255000,0.989000,0.032000,5.0625
synonymous_variant,SSPN,SILENT,NM_005086.4:p.Leu96Leu/c.286T>C,Tta/Cta,LOW,COSM147456(2),0.0714856,0.0357,rs34624361,,,,,,chr12,26377232,26377232,T,C,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu96Leu/c.286T>C|243|SSPN|protein_coding|CODING|NM_005086.4|2|1),5_prime_UTR_variant(MODIFIER||24|c.-24T>C|140|SSPN|protein_coding|CODING|NM_001135823.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0654,0.098,0.0686,0.08,0.10,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ITPR2,SILENT,NM_002223.2:p.His961His/c.2883C>T,caC/caT,LOW,COSM4146967(1),0.492812,0.3839,rs2230372,,,,,,chr12,26784850,26784850,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His961His/c.2883C>T|2701|ITPR2|protein_coding|CODING|NM_002223.2|22|1),"GM12878:H3K36me3,NH-A:DNase1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6544,0.3285,0.497,0.52,0.57,0.50,,,,,,,,,,,,,,,,
synonymous_variant,ITPR2,SILENT,NM_002223.2:p.His786His/c.2358C>T,caC/caT,LOW,,0.294928,0.5635,rs2230379,,,,,,chr12,26809316,26809316,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His786His/c.2358C>T|2701|ITPR2|protein_coding|CODING|NM_002223.2|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2812,0.3804,0.1809,0.16,0.15,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ITPR2,SILENT,NM_002223.2:p.Ser685Ser/c.2055A>G,tcA/tcG,LOW,,0.397364,0.6518,rs2291264,,,,,,chr12,26810777,26810777,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser685Ser/c.2055A>G|2701|ITPR2|protein_coding|CODING|NM_002223.2|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.409,0.4524,0.3628,0.31,0.22,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ITPR2,SILENT,NM_002223.2:p.Ser672Ser/c.2016A>C,tcA/tcC,LOW,,0.280551,0.5635,rs2291263,,,,,,chr12,26810816,26810816,T,G,het,synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser672Ser/c.2016A>C|2701|ITPR2|protein_coding|CODING|NM_002223.2|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2812,0.3775,0.1799,0.15,0.10,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ITPR2,SILENT,NM_002223.2:p.Ser635Ser/c.1905A>G,tcA/tcG,LOW,,0.20607,0.0139,rs12313993,,,,,,chr12,26811045,26811045,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser635Ser/c.1905A>G|2701|ITPR2|protein_coding|CODING|NM_002223.2|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2301,0.1383,0.1779,0.23,0.36,0.17,,,,,,,,,,,,,,,,
synonymous_variant,ASUN,SILENT,NM_018164.2:p.Glu608Glu/c.1824G>A,gaG/gaA,LOW,COSM4146968(1),0.579273,0.7609,rs3210635,,,,,,chr12,27064232,27064232,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu608Glu/c.1824G>A|706|ASUN|protein_coding|CODING|NM_018164.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6207,0.4366,0.492,0.49,0.51,0.47,,,,,,,,,,,,,,,,
synonymous_variant,C12orf71,SILENT,NM_001080406.1:p.Lys239Lys/c.717A>G,aaA/aaG,LOW,COSM3753125(1),0.20028,0.0357,rs708165,,,,,,chr12,27234200,27234200,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys239Lys/c.717A>G|269|C12orf71|protein_coding|CODING|NM_001080406.1|2|1),"NHEK:H3K27ac,HMEC:H3K9ac,NHEK:H3K4me1,HMEC:H3K27ac,NHEK:H3K36me3",,,,0.2004,0.2176,0.4433,0.36,0.18,0.45,,,,,,,,,,,,,,,,
missense_variant,C12orf71,MISSENSE,NM_001080406.1:p.Ile140Val/c.418A>G,Ata/Gta,MODERATE,,0.178514,0.0357,rs708167,0.17(T),0.0(B),0(N),-0.9206(T),,chr12,27234999,27234999,T,C,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile140Val/c.418A>G|269|C12orf71|protein_coding|CODING|NM_001080406.1|1|1),"HMEC:H3K9ac,HMEC:H3K27ac,HMEC:H3K4me2,NHEK:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,0.2004,0.2118,0.4423,0.34,0.11,0.45,,0.108493(U),1.000(P),1.02(T),0.0000(T),0.039,0.409973,3.22,2.05,0.418000,0.443000,-0.196000,0.021000,0.030000,0.001000,5.1545
synonymous_variant,STK38L,SILENT,NM_015000.3:p.Thr331Thr/c.993G>A,acG/acA,LOW,,0.984824,1,rs6487601,,,,,,chr12,27470866,27470866,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr331Thr/c.993G>A|464|STK38L|protein_coding|CODING|NM_015000.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9857,0.9914,0.9652,0.98,0.99,0.97,,,,,,,,,,,,,,,,
synonymous_variant,SMCO2,SILENT,NM_001145010.1:p.Ala107Ala/c.321G>A,gcG/gcA,LOW,,0.748802,0.7321,rs411816,,,,,,chr12,27627805,27627805,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala107Ala/c.321G>A|343|SMCO2|protein_coding|CODING|NM_001145010.1|4|1),,,,,0.7679,0.8098,0.7793,0.77,0.71,0.80,,,,,,,,,,,,,,,,
synonymous_variant,SMCO2,SILENT,NM_001145010.1:p.Thr292Thr/c.876C>T,acC/acT,LOW,,0.117212,0.0327,rs61731840,,,,,,chr12,27654898,27654898,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr292Thr/c.876C>T|343|SMCO2|protein_coding|CODING|NM_001145010.1|9|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.1922,0.1282,0.2336,0.19,0.06,0.25,,,,,,,,,,,,,,,,
synonymous_variant,PPFIBP1,SILENT,NM_177444.2:p.Thr81Thr/c.243G>A,acG/acA,LOW,COSM3998751(1),0.348442,0.4008,rs2075378,,,,,,chr12,27788021,27788021,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr81Thr/c.243G>A|980|PPFIBP1|protein_coding|CODING|NM_001198916.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr81Thr/c.243G>A|1005|PPFIBP1|protein_coding|CODING|NM_003622.3|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr81Thr/c.243G>A|1011|PPFIBP1|protein_coding|CODING|NM_177444.2|4|1),intron_variant(MODIFIER|||c.-189-10974G>A|858|PPFIBP1|protein_coding|CODING|NM_001198915.1|2|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4243,0.2997,0.3757,0.33,0.28,0.35,,,,,,,,,,,,,,,,
missense_variant,PPFIBP1,MISSENSE,NM_177444.2:p.Val148Leu/c.442G>T,Gtg/Ttg,MODERATE,,0.994409,1,rs2194816,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.71(N),-0.6510(T),,chr12,27800746,27800746,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val148Leu/c.442G>T|980|PPFIBP1|protein_coding|CODING|NM_001198916.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val148Leu/c.442G>T|1005|PPFIBP1|protein_coding|CODING|NM_003622.3|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val148Leu/c.442G>T|1011|PPFIBP1|protein_coding|CODING|NM_177444.2|6|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||858|PPFIBP1|protein_coding|CODING|NM_001198915.1|4|1),5_prime_UTR_variant(MODIFIER||18|c.-18G>T|858|PPFIBP1|protein_coding|CODING|NM_001198915.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9957,1,0.99,0.98,1.00,,0.017942(N),0.000(P),"1.52,1.52,1.52,1.52,1.52(T,T,T,T,T)",0.0000(T),0.29,0.425659,5.26,-9.06,-1.006000,-2.690000,0.128000,0.964000,0.196000,0.909000,21.8511
synonymous_variant,REP15,SILENT,NM_001029874.1:p.Ser100Ser/c.300C>T,tcC/tcT,LOW,COSM3753139(1),0.596046,0.5268,rs929948,,,,,,chr12,27849795,27849795,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser100Ser/c.300C>T|236|REP15|protein_coding|CODING|NM_001029874.1|1|1),downstream_gene_variant(MODIFIER||1298||858|PPFIBP1|protein_coding|CODING|NM_001198915.1||1),downstream_gene_variant(MODIFIER||1298||980|PPFIBP1|protein_coding|CODING|NM_001198916.1||1),downstream_gene_variant(MODIFIER||1298||1005|PPFIBP1|protein_coding|CODING|NM_003622.3||1),downstream_gene_variant(MODIFIER||1298||1011|PPFIBP1|protein_coding|CODING|NM_177444.2||1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5112,0.6888,0.6262,0.62,0.63,0.62,,,,,,,,,,,,,,,,
missense_variant,REP15,MISSENSE,NM_001029874.1:p.Asn101Asp/c.301A>G,Aac/Gac,MODERATE,,0.97484,1,rs929949,1(T),0.0(B),-1.845(N),-0.9729(T),,chr12,27849796,27849796,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn101Asp/c.301A>G|236|REP15|protein_coding|CODING|NM_001029874.1|1|1),downstream_gene_variant(MODIFIER||1299||858|PPFIBP1|protein_coding|CODING|NM_001198915.1||1),downstream_gene_variant(MODIFIER||1299||980|PPFIBP1|protein_coding|CODING|NM_001198916.1||1),downstream_gene_variant(MODIFIER||1299||1005|PPFIBP1|protein_coding|CODING|NM_003622.3||1),downstream_gene_variant(MODIFIER||1299||1011|PPFIBP1|protein_coding|CODING|NM_177444.2||1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.97,0.92,1.00,,0.028066(N),1.000(P),1.79(T),0.0000(T),0.037,1.916097,4.91,3.0,-0.128000,0.680000,1.924000,0.950000,0.008000,0.601000,9.7099
missense_variant,KLHL42,MISSENSE,NM_020782.1:p.Ser58Asn/c.173G>A,aGc/aAc,MODERATE,,,,,0.03(D),0.156(B),2.2(M),-0.4187(T),,chr12,27933436,27933436,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser58Asn/c.173G>A|505|KLHL42|protein_coding|CODING|NM_020782.1|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,,,,,,,,0.000000(D),0.995(D),-0.63(T),0.2817(T),0.182,4.934792,4.32,4.32,0.485000,2.399000,5.786000,0.993000,1.000000,1.000000,12.2918
missense_variant,CCDC91,MISSENSE,NM_018318.3:p.Ala36Thr/c.106G>A,Gca/Aca,MODERATE,COSM3753162(1),0.124601,0.0427,rs11049488,0.71(T),0.003(B),-0.205(N),-0.9664(T),,chr12,28412372,28412372,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala36Thr/c.106G>A|441|CCDC91|protein_coding|CODING|NM_018318.3|2|1),,,,,0.1759,0.1239,0.2972,0.22,0.06,0.31,,0.004109(N),0.000(P),"1.56,1.53,1.54,1.53,1.54,1.56(T,T,T,T,T,T)",0.0000(T),0.211,0.257578,5.57,-0.515,-0.254000,-0.272000,-0.115000,0.931000,0.992000,0.388000,1.3506
missense_variant,CCDC91,MISSENSE,NM_018318.3:p.Val314Met/c.940G>A,Gtg/Atg,MODERATE,COSM3998755(1),0.669129,0.4702,rs10771427,0.14(T),"0.002,0.011,0.002(B,B,B)",-0.205(N),-0.9357(T),,chr12,28605426,28605426,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val314Met/c.940G>A|441|CCDC91|protein_coding|CODING|NM_018318.3|10|1),CD4:H3K36me3,,,,0.6012,0.6398,0.7475,0.78,0.83,0.76,,0.391196(N),1.000(P),"1.45,1.48,0.97,1.5,1.49,1.5,1.49,0.97,1.49,0.88(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.241,-0.403863,5.43,-5.71,-0.352000,-1.887000,-0.271000,0.968000,0.203000,0.013000,19.6535
synonymous_variant,ERGIC2,SILENT,NM_016570.2:p.Thr81Thr/c.243T>C,acT/acC,LOW,,0.146765,0.1895,rs12831730,,,,,,chr12,29521193,29521193,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr81Thr/c.243T>C|377|ERGIC2|protein_coding|CODING|NM_016570.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.1182,0.164,0.15,0.14,0.15,,,,,,,,,,,,,,,,
missense_variant,OVCH1,MISSENSE,NM_183378.2:p.Ala881Pro/c.2641G>C,Gca/Cca,MODERATE,COSM3753163(1),0.510583,0.4008,rs1347570,1(T),,,-0.9574(T),,chr12,29604392,29604392,C,G,het,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala881Pro/c.2641G>C|1134|OVCH1|protein_coding|CODING|NM_183378.2|22|1),intron_variant(MODIFIER|||n.561-10275C>G||OVCH1-AS1||NON_CODING|NR_073170.1|1|1),intron_variant(MODIFIER|||n.561-10337C>G||OVCH1-AS1||NON_CODING|NR_073171.1|1|1),intron_variant(MODIFIER|||n.561-35427C>G||OVCH1-AS1||NON_CODING|NR_073172.1|1|1)",,,,,0.4939,0.3934,0.5726,0.59,0.65,0.56,,,1.000(P),2.31(T),0.0000(T),0.019,-0.581633,2.36,2.36,-0.225000,0.572000,1.469000,0.611000,0.096000,0.014000,7.1197
synonymous_variant,OVCH1,SILENT,NM_183378.2:p.Ala526Ala/c.1578C>T,gcC/gcT,LOW,COSM147462(2),0.509984,0.3948,rs2043623,,,,,,chr12,29628016,29628016,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala526Ala/c.1578C>T|1134|OVCH1|protein_coding|CODING|NM_183378.2|14|1),intron_variant(MODIFIER|||n.561-11803G>A||OVCH1-AS1||NON_CODING|NR_073172.1|1|1)",,,,,0.454,0.3934,0.5517,0.58,0.68,0.54,,,,,,,,,,,,,,,,
missense_variant,OVCH1,MISSENSE,NM_183378.2:p.Thr444Ile/c.1331C>T,aCa/aTa,MODERATE,,0.820887,0.9147,rs7975356,0.54(T),,,-1.0027(T),,chr12,29630081,29630081,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr444Ile/c.1331C>T|1134|OVCH1|protein_coding|CODING|NM_183378.2|12|1),intron_variant(MODIFIER|||n.561-9738G>A||OVCH1-AS1||NON_CODING|NR_073172.1|1|1)",,,,,0.864,0.8977,0.8638,0.79,0.65,0.86,,,1.000(P),0.19(T),0.0000(T),0.007,-1.136822,2.73,0.208,-1.048000,-0.258000,-0.211000,0.000000,0.000000,0.000000,2.8363
stop_gained,OVCH1,NONSENSE,NM_183378.2:p.Arg349*/c.1045C>T,Cga/Tga,HIGH,,,,rs200302819,0.38(T),,,,OVCH1:1.00(1);OVCH1:1.00(1);,chr12,29631792,29631792,G,A,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg349*/c.1045C>T|1134|OVCH1|protein_coding|CODING|NM_183378.2|9|1),intron_variant(MODIFIER|||n.561-8027G>A||OVCH1-AS1||NON_CODING|NR_073172.1|1|1)",,,,,,,,0.00,0.00,0.00,,,1.000(A),,,.,3.316887,3.04,1.11,0.655000,0.280000,1.672000,0.380000,0.904000,0.998000,3.1646
missense_variant,OVCH1,MISSENSE,NM_183378.2:p.Lys330Glu/c.988A>G,Aag/Gag,MODERATE,,0.615415,0.7331,rs3847680,0.58(T),0.0(B),0(N),-0.9461(T),,chr12,29639186,29639186,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys330Glu/c.988A>G|1134|OVCH1|protein_coding|CODING|NM_183378.2|8|1),intron_variant(MODIFIER|||n.561-633T>C||OVCH1-AS1||NON_CODING|NR_073172.1|1|1)",IMR90:H3K36me3,,,,0.5164,0.4813,0.6044,0.61,0.66,0.58,,,1.000(P),-2.07(D),0.0000(T),0.025,-2.069785,1.94,1.03,-0.971000,-0.006000,-0.432000,0.024000,0.000000,0.000000,4.3278
missense_variant,OVCH1,MISSENSE,NM_183378.2:p.Trp228Gly/c.682T>G,Tgg/Ggg,MODERATE,COSM1361161(2),0.422524,0.5685,rs967181,1(T),0.0(B),-2.905(N),-0.9623(T),,chr12,29642573,29642573,A,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp228Gly/c.682T>G|1134|OVCH1|protein_coding|CODING|NM_183378.2|6|1),"HSMM:H3K36me3,IMR90:H3K36me3",,,,0.3967,0.3012,0.4692,0.41,0.35,0.43,,,1.000(P),-2.09(D),0.0000(T),0.073,-2.714028,2.07,0.0831,-0.987000,-0.301000,0.817000,0.000000,0.000000,0.004000,1.0202
missense_variant,OVCH1,MISSENSE,NM_183378.2:p.Arg133Cys/c.397C>T,Cgt/Tgt,MODERATE,,0.447484,0.5347,rs10843438,0.18(T),0.285(B),1.32(L),-0.9719(T),,chr12,29648275,29648275,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg133Cys/c.397C>T|1134|OVCH1|protein_coding|CODING|NM_183378.2|4|1),,,,,0.4601,0.3689,0.5716,0.47,0.32,0.54,,,1.000(P),-2.49(D),0.0000(T),0.148,-0.568535,2.68,0.63,-0.119000,0.151000,-0.544000,0.159000,0.001000,0.000000,5.5032
synonymous_variant,TMTC1,SILENT,NM_001193451.1:p.Leu24Leu/c.72A>C,ctA/ctC,LOW,,0.907149,0.999,rs184221,,,,,,chr12,29936613,29936613,T,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu24Leu/c.72A>C|882|TMTC1|protein_coding|CODING|NM_001193451.1|1|1),intron_variant(MODIFIER|||c.-23+628A>C|774|TMTC1|protein_coding|CODING|NM_175861.3|1|1)","HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,IMR90:H3K27ac,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9898,0.9669,0.9692,,,,,,,,,,,,,,,,,,,
missense_variant,TMTC1,MISSENSE,NM_001193451.1:p.Arg20Leu/c.59G>T,cGg/cTg,MODERATE,,0.208267,0.2986,rs654825,,,0(N),-1.0141(T),,chr12,29936626,29936626,C,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg20Leu/c.59G>T|882|TMTC1|protein_coding|CODING|NM_001193451.1|1|1),intron_variant(MODIFIER|||c.-23+615G>T|774|TMTC1|protein_coding|CODING|NM_175861.3|1|1)","HeLa-S3:DNase1,H1ESC:H3K9ac,IMR90:H3K9ac,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,IMR90:H3K27ac,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1207,0.1744,0.3211,,,,,,0.000(P),"-0.13,-0.38,-0.25(T,T,T)",0.0000(T),0.263,0.592763,2.84,-0.517,-1.842000,-0.924000,-1.053000,0.203000,0.703000,0.000000,6.5548
synonymous_variant,CAPRIN2,SILENT,NM_001002259.2:p.Thr845Thr/c.2535G>A,acG/acA,LOW,,0.00339457,0,rs78303008,,,,,,chr12,30868008,30868008,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr789Thr/c.2367G>A|905|CAPRIN2|protein_coding|CODING|NM_001206856.2|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr795Thr/c.2385G>A|1077|CAPRIN2|protein_coding|CODING|NM_023925.4|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr844Thr/c.2532G>A|960|CAPRIN2|protein_coding|CODING|NM_032156.4|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr845Thr/c.2535G>A|1127|CAPRIN2|protein_coding|CODING|NM_001002259.2|15|1),non_coding_exon_variant(MODIFIER|||n.3200G>A||CAPRIN2||CODING|NR_038177.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.001,0.0029,0.0129,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN11,SILENT,NM_001080509.2:p.Cys156Cys/c.468T>C,tgT/tgC,LOW,COSM431013(2),0.951478,0.9673,rs35089,,,,,,chr12,31135478,31135478,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys156Cys/c.468T>C|253|TSPAN11|protein_coding|CODING|NM_001080509.2|6|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9489,0.9481,0.9523,0.95,0.94,0.96,,,,,,,,,,,,,,,,
missense_variant,TSPAN11,MISSENSE,NM_001080509.2:p.Val190Ala/c.569T>C,gTg/gCg,MODERATE,COSM431014(2),0.707668,0.7242,rs2075333,0.89(T),"0.002,0.002(B,B)",-0.22(N),-0.9654(T),,chr12,31135579,31135579,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val190Ala/c.569T>C|253|TSPAN11|protein_coding|CODING|NM_001080509.2|6|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7597,0.7478,0.6998,0.66,0.63,0.68,,0.581263(N),1.000(P),"-1.04,-1.04,-1.04,-1.04(T,T,T,T)",0.0000(T),0.117,-2.517694,4.01,-1.76,-1.741000,-0.273000,-0.471000,0.033000,0.008000,0.000000,3.9487
synonymous_variant,DDX11,SILENT,NM_001257144.1:p.Cys285Cys/c.855T>C,tgT/tgC,LOW,COSM4146994(1),0.645567,0.7748,rs3881298,,,,,,chr12,31242399,31242399,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys285Cys/c.855T>C|970|DDX11|protein_coding|CODING|NM_001257144.1|8|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys259Cys/c.777T>C|880|DDX11|protein_coding|CODING|NM_001257145.1|8|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys285Cys/c.855T>C|856|DDX11|protein_coding|CODING|NM_004399.2|8|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys285Cys/c.855T>C|906|DDX11|protein_coding|CODING|NM_030653.3|8|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys285Cys/c.855T>C|970|DDX11|protein_coding|CODING|NM_152438.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6074,0.6311,0.4682,0.52,0.67,0.44,,,,,,,,,,,,,,,,
synonymous_variant,DDX11,SILENT,NM_001257144.1:p.Ala380Ala/c.1140C>T,gcC/gcT,LOW,COSM3811842(1),,,rs374684190,,,,,,chr12,31244703,31244703,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala380Ala/c.1140C>T|970|DDX11|protein_coding|CODING|NM_001257144.1|10|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala354Ala/c.1062C>T|880|DDX11|protein_coding|CODING|NM_001257145.1|10|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala380Ala/c.1140C>T|856|DDX11|protein_coding|CODING|NM_004399.2|10|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala380Ala/c.1140C>T|906|DDX11|protein_coding|CODING|NM_030653.3|10|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala380Ala/c.1140C>T|970|DDX11|protein_coding|CODING|NM_152438.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,DDX11,MISSENSE,NM_001257144.1:p.Gln567Glu/c.1699C>G,Caa/Gaa,MODERATE,COSM3753167(1),0.641174,0.8294,rs2075322,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",,-0.9579(T),,chr12,31249861,31249861,C,G,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln567Glu/c.1699C>G|970|DDX11|protein_coding|CODING|NM_001257144.1|17|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln541Glu/c.1621C>G|880|DDX11|protein_coding|CODING|NM_001257145.1|17|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln567Glu/c.1699C>G|856|DDX11|protein_coding|CODING|NM_004399.2|17|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln567Glu/c.1699C>G|906|DDX11|protein_coding|CODING|NM_030653.3|17|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln567Glu/c.1699C>G|970|DDX11|protein_coding|CODING|NM_152438.1|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6002,0.6066,0.4284,0.53,0.68,0.45,,0.000000(N),0.000(P),"2.46,2.46,2.46,2.46,2.46(T,T,T,T,T)",0.0000(T),0.095,-0.770984,3.56,2.6,-0.293000,0.170000,5.344000,0.770000,0.418000,1.000000,10.8246
synonymous_variant,DDX11,SILENT,NM_001257144.1:p.Leu661Leu/c.1983C>T,ctC/ctT,LOW,,0.628395,0.8065,rs1046456,,,,,,chr12,31253995,31253995,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu661Leu/c.1983C>T|970|DDX11|protein_coding|CODING|NM_001257144.1|20|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu635Leu/c.1905C>T|880|DDX11|protein_coding|CODING|NM_001257145.1|20|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu661Leu/c.1983C>T|856|DDX11|protein_coding|CODING|NM_004399.2|20|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu661Leu/c.1983C>T|906|DDX11|protein_coding|CODING|NM_030653.3|20|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu661Leu/c.1983C>T|970|DDX11|protein_coding|CODING|NM_152438.1|20|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.6124,0.4394,0.53,0.67,0.46,,,,,,,,,,,,,,,,
missense_variant,DDX11,MISSENSE,NM_030653.3:p.Ala848Val/c.2543C>T,gCc/gTc,MODERATE,COSM1318019(2),0.0423323,0.002,rs140335402,0.01(D),"0.999,0.999,0.999(D,D,D)",1.385(L),-1.0529(T),,chr12,31256517,31256517,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala822Val/c.2465C>T|880|DDX11|protein_coding|CODING|NM_001257145.1|26|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala798Val/c.2393C>T|856|DDX11|protein_coding|CODING|NM_004399.2|25|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala848Val/c.2543C>T|906|DDX11|protein_coding|CODING|NM_030653.3|26|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly846Gly/c.2538C>T|970|DDX11|protein_coding|CODING|NM_001257144.1|26|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly846Gly/c.2538C>T|970|DDX11|protein_coding|CODING|NM_152438.1|26|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.0317,0.0778,0.1113,0.07,0.02,0.10,,0.488518(N),0.000(P),"-0.8,-0.8,-2.77(T,T,D)",0.0052(T),.,0.074498,3.14,3.14,0.430000,1.582000,6.568000,0.804000,1.000000,1.000000,11.816
missense_variant,DDX11,MISSENSE,NM_001257144.1:p.Arg856His/c.2567G>A,cGt/cAt,MODERATE,COSM3753169(1),0.634185,0.8075,rs1046457,0.11(T),0.0(B),,-0.9416(T),,chr12,31256546,31256546,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg856His/c.2567G>A|970|DDX11|protein_coding|CODING|NM_001257144.1|26|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val832Ile/c.2494G>A|880|DDX11|protein_coding|CODING|NM_001257145.1|26|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val808Ile/c.2422G>A|856|DDX11|protein_coding|CODING|NM_004399.2|25|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val858Ile/c.2572G>A|906|DDX11|protein_coding|CODING|NM_030653.3|26|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg856His/c.2567G>A|970|DDX11|protein_coding|CODING|NM_152438.1|26|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.5736,0.611,0.4384,0.50,0.65,0.42,,,0.000(P),"-0.81,-0.81(T,T)",0.0000(T),0.117,-1.427665,3.14,3.14,-0.707000,0.313000,2.796000,0.179000,0.982000,1.000000,6.4922
missense_variant,DDX11,MISSENSE,NM_001257144.1:p.Cys951Arg/c.2851T>C,Tgc/Cgc,MODERATE,,0.638379,0.8105,rs1046458,,0.0(B),0.345(N),-0.9621(T),,chr12,31256905,31256905,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys951Arg/c.2851T>C|970|DDX11|protein_coding|CODING|NM_001257144.1|27|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys951Arg/c.2851T>C|970|DDX11|protein_coding|CODING|NM_152438.1|27|1),3_prime_UTR_variant(MODIFIER||135|c.*135T>C|880|DDX11|protein_coding|CODING|NM_001257145.1|27|1),3_prime_UTR_variant(MODIFIER||135|c.*135T>C|856|DDX11|protein_coding|CODING|NM_004399.2|26|1),3_prime_UTR_variant(MODIFIER||135|c.*135T>C|906|DDX11|protein_coding|CODING|NM_030653.3|27|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.5716,0.6153,0.4553,,,,,,1.000(P),"-0.68,-0.68(T,T)",0.0000(T),0.104,-1.335212,1.38,-2.53,-1.518000,-1.616000,-0.876000,0.005000,0.011000,0.000000,4.767
synonymous_variant,KIAA1551,SILENT,NM_018169.3:p.Asn117Asn/c.351C>T,aaC/aaT,LOW,,0.725839,0.7827,rs2388982,,,,,,chr12,32134240,32134240,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn117Asn/c.351C>T|1747|KIAA1551|protein_coding|CODING|NM_018169.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6953,0.7608,0.6928,0.70,0.71,0.69,,,,,,,,,,,,,,,,
missense_variant,KIAA1551,MISSENSE,NM_018169.3:p.Leu250Pro/c.749T>C,cTa/cCa,MODERATE,,0.840256,0.8244,rs2166807,,0.0(B),-1.1(N),-1.0223(T),,chr12,32134638,32134638,T,C,het,missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu250Pro/c.749T>C|1747|KIAA1551|protein_coding|CODING|NM_018169.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8354,0.8184,0.7893,0.82,0.88,0.78,,0.386362(N),1.000(P),"4.06,3.41(T,T)",0.0000(T),0.424,-0.889689,5.68,4.69,-0.128000,1.412000,0.959000,0.072000,0.019000,0.009000,8.2206
missense_variant,KIAA1551,MISSENSE,NM_018169.3:p.Ser352Gly/c.1054A>G,Agt/Ggt,MODERATE,COSM4147000(2),0.35024,0.3135,rs10771894,,0.0(B),0(N),-0.9147(T),,chr12,32134943,32134943,A,G,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser352Gly/c.1054A>G|1747|KIAA1551|protein_coding|CODING|NM_018169.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2802,0.3862,0.3588,0.39,0.41,0.37,,0.243908(N),1.000(P),"4.01,3.37(T,T)",0.0000(T),0.153,1.364702,5.45,0.438,-0.253000,0.187000,1.074000,0.001000,0.001000,0.024000,2.3617
missense_variant,KIAA1551,MISSENSE,NM_018169.3:p.Ser518Pro/c.1552T>C,Tca/Cca,MODERATE,,0.945088,0.8839,rs3759301,,0.0(B),0(N),-1.0368(T),,chr12,32135441,32135441,T,C,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser518Pro/c.1552T>C|1747|KIAA1551|protein_coding|CODING|NM_018169.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.9315,0.9597,0.9404,0.96,0.99,0.94,,,1.000(P),"3.99,3.35(T,T)",0.0000(T),0.391,1.067348,4.76,2.88,-0.213000,0.085000,-0.627000,0.000000,0.000000,0.000000,4.4311
synonymous_variant,KIAA1551,SILENT,NM_018169.3:p.Pro1186Pro/c.3558C>T,ccC/ccT,LOW,,0.123802,0.2321,rs3759300,,,,,,chr12,32137447,32137447,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1186Pro/c.3558C>T|1747|KIAA1551|protein_coding|CODING|NM_018169.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K9me3,HepG2:H3K36me3",,,,0.1759,0.0879,0.1382,0.10,0.03,0.14,,,,,,,,,,,,,,,,
missense_variant,KIAA1551,MISSENSE,NM_018169.3:p.Ser1208Cys/c.3623C>G,tCt/tGt,MODERATE,,0.175519,0.247,rs3759299,,0.023(B),1.61(L),-0.9378(T),,chr12,32137512,32137512,C,G,het,missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser1208Cys/c.3623C>G|1747|KIAA1551|protein_coding|CODING|NM_018169.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K9me3,HepG2:H3K36me3",,,,0.2117,0.1758,0.2366,0.20,0.08,0.26,,0.866898(N),1.000(P),2.49(T),0.0000(T),0.047,2.226572,4.05,0.933,-0.274000,-0.022000,0.687000,0.035000,0.000000,0.005000,2.6973
synonymous_variant,BICD1,SILENT,NM_001714.2:p.Val568Val/c.1704G>C,gtG/gtC,LOW,COSM1562146(2),0.264577,0.5764,rs3748275,,,,,,chr12,32481093,32481093,G,C,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val568Val/c.1704G>C|835|BICD1|protein_coding|CODING|NM_001003398.1|5|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val568Val/c.1704G>C|975|BICD1|protein_coding|CODING|NM_001714.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.2118,0.2296,0.19,0.15,0.21,,,,,,,,,,,,,,,,
synonymous_variant,SYT10,SILENT,NM_198992.3:p.Pro375Pro/c.1125G>A,ccG/ccA,LOW,,0.0267572,0.001,rs11052670,,,,,,chr12,33538179,33538179,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro375Pro/c.1125G>A|523|SYT10|protein_coding|CODING|NM_198992.3|4|1),,,,,0.0573,0.0202,0.0606,0.05,0.02,0.06,,,,,,,,,,,,,,,,
missense_variant,ALG10B,MISSENSE,NM_001013620.3:p.Ala84Gly/c.251C>G,gCa/gGa,MODERATE,,0.966653,1,rs6582584,0.8(T),0.0(B),-2.16(N),-0.9602(T),,chr12,38712142,38712142,C,G,hom,missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala84Gly/c.251C>G|473|ALG10B|protein_coding|CODING|NM_001013620.3|2|1),,,,,0.9939,0.9726,0.9851,0.97,0.92,0.99,,0.000002(N),1.000(P),"0.59,0.59(T,T)",0.0000(T),0.166,-0.427206,3.74,3.74,-0.120000,1.148000,4.071000,0.986000,1.000000,1.000000,11.68
synonymous_variant,CPNE8,SILENT,NM_153634.2:p.Tyr331Tyr/c.993C>T,taC/taT,LOW,COSM147470(2),0.26238,0.2331,rs3759139,,,,,,chr12,39087609,39087609,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr331Tyr/c.993C>T|564|CPNE8|protein_coding|CODING|NM_153634.2|15|1),,,,,0.364,0.2997,0.4493,0.33,0.10,0.45,,,,,,,,,,,,,,,,
missense_variant,LRRK2,MISSENSE,NM_198578.3:p.Arg50His/c.149G>A,cGc/cAc,MODERATE,,0.969249,1,rs2256408,1(T),0.0(B),-0.205(N),-0.9736(T),,chr12,40619082,40619082,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg50His/c.149G>A|2527|LRRK2|protein_coding|CODING|NM_198578.3|1|1),splice_region_variant(LOW|||c.149G>A|2527|LRRK2|protein_coding|CODING|NM_198578.3|1|1)","GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HMEC:H3K4me2,GM06990:H3K4me3,HUVEC:H3K4me2,NHEK:H3K4me2,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000032408.1,,1,0.9942,1,0.97,0.90,1.00,,0.490819(N),1.000(P),"0.7,1.0(T,T)",0.0000(T),0.188,-0.451308,5.2,-1.31,-0.254000,-0.564000,0.204000,0.701000,0.611000,0.050000,6.7627
synonymous_variant,LRRK2,SILENT,NM_198578.3:p.Leu153Leu/c.457T>C,Ttg/Ctg,LOW,COSM1128598(1),0.452875,0.3552,rs10878245,,,,,,chr12,40631791,40631791,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu153Leu/c.457T>C|2527|LRRK2|protein_coding|CODING|NM_198578.3|5|1),,,RCV000032466.1,,0.6063,0.3905,0.5656,0.53,0.38,0.60,,,,,,,,,,,,,,,,
synonymous_variant,LRRK2,SILENT,NM_198578.3:p.Gly1624Gly/c.4872C>A,ggC/ggA,LOW,COSM3753217(1),0.682907,0.5218,,,,,,,chr12,40713834,40713834,C,A,hom,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly1624Gly/c.4872C>A|2527|LRRK2|protein_coding|CODING|NM_198578.3|34|1),,,RCV000032471.1,,0.7219,0.6902,0.668,0.69,0.76,0.65,,,,,,,,,,,,,,,,
synonymous_variant,LRRK2,SILENT,NM_198578.3:p.Lys1637Lys/c.4911A>G,aaA/aaG,LOW,COSM289938(2),0.585663,0.501,rs11176013,,,,,,chr12,40713873,40713873,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1637Lys/c.4911A>G|2527|LRRK2|protein_coding|CODING|NM_198578.3|34|1),,,RCV000032473.1,,0.7014,0.6052,0.5427,0.55,0.58,0.54,,,,,,,,,,,,,,,,
synonymous_variant,LRRK2,SILENT,NM_198578.3:p.Gly1819Gly/c.5457T>C,ggT/ggC,LOW,,0.585264,0.501,rs10878371,,,,,,chr12,40716260,40716260,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1819Gly/c.5457T>C|2527|LRRK2|protein_coding|CODING|NM_198578.3|37|1),,,RCV000032483.1,,0.7014,0.6037,0.5427,0.55,0.58,0.54,,,,,,,,,,,,,,,,
missense_variant,LRRK2,MISSENSE,NM_198578.3:p.Met2397Thr/c.7190T>C,aTg/aCg,MODERATE,COSM3753219(1),0.551717,0.4603,,0.43(T),0.0(B),1.355(L),-0.9234(T),,chr12,40758652,40758652,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met2397Thr/c.7190T>C|2527|LRRK2|protein_coding|CODING|NM_198578.3|49|1),,,RCV000032513.1,,0.6217,0.5288,0.67,0.61,0.53,0.66,,0.043310(N),1.000(P),-0.53(T),0.0000(T),0.068,-2.416372,5.42,3.03,-1.160000,0.378000,0.377000,0.154000,0.005000,0.003000,10.427
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Gly129Ser/c.385G>A,Ggt/Agt,MODERATE,,0.600639,0.5397,rs1019709,,,,,,chr12,40802150,40802150,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly129Ser/c.385G>A|8221|MUC19|protein_coding|CODING|NM_173600.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.729,0.621,0.5656,,,,,,,,,,,,,,,,,,,
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Gly717Glu/c.2150G>A,gGa/gAa,MODERATE,,0.832468,0.7183,rs7955308,,,-1.06(N),-1.0148(T),,chr12,40821176,40821176,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly717Glu/c.2150G>A|8221|MUC19|protein_coding|CODING|NM_173600.2|19|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.2150G>A|8221|MUC19|protein_coding|CODING|NM_173600.2|19|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.8865,0.8761,0.9264,,,,,,0.000(P),,0.0000(T),0.237,-1.023763,5.13,2.74,-0.352000,0.054000,0.026000,0.001000,0.803000,0.990000,0.5772
synonymous_variant,MUC19,SILENT,NM_173600.2:p.Thr864Thr/c.2592G>A,acG/acA,LOW,,0.126597,0.001,rs2114567,,,,,,chr12,40825487,40825487,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr864Thr/c.2592G>A|8221|MUC19|protein_coding|CODING|NM_173600.2|22|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.184,0.0994,0.168,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC19,SILENT,NM_173600.2:p.Asn1139Asn/c.3417C>T,aaC/aaT,LOW,COSM3811965(2),0.518171,0.4742,rs10878584,,,,,,chr12,40832126,40832126,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1139Asn/c.3417C>T|8221|MUC19|protein_coding|CODING|NM_173600.2|28|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.7168,0.5648,0.5447,,,,,,,,,,,,,,,,,,,
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Ile1151Thr/c.3452T>C,aTt/aCt,MODERATE,COSM3811966(1),0.518371,0.4742,rs11176635,0.58(T),,1.035(L),-0.9302(T),,chr12,40832161,40832161,T,C,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile1151Thr/c.3452T>C|8221|MUC19|protein_coding|CODING|NM_173600.2|28|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.7168,0.5663,0.5447,,,,,,0.000(P),,0.0000(T),0.312,1.426663,5.19,5.19,0.528000,2.098000,2.127000,0.873000,0.957000,1.000000,9.7103
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Cys1156Trp/c.3468C>G,tgC/tgG,MODERATE,COSM3998784(1),0.517971,0.4742,rs10878592,,,3.15(M),-0.9375(T),,chr12,40834376,40834376,C,G,het,"missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys1156Trp/c.3468C>G|8221|MUC19|protein_coding|CODING|NM_173600.2|29|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.3468C>G|8221|MUC19|protein_coding|CODING|NM_173600.2|29|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.7157,0.5648,0.5447,,,,,,0.000(P),,0.0000(T),0.743,1.930900,5.44,0.143,-1.068000,-0.209000,0.078000,0.471000,0.976000,0.983000,5.5996
stop_gained,MUC19,NONSENSE,NM_173600.2:p.Cys1238*/c.3714C>A,tgC/tgA,HIGH,,0.518371,0.4742,rs10784618,1(T),,,,MUC19:1.00(1);MUC19:1.00(1);,chr12,40834955,40834955,C,A,het,stop_gained(HIGH|NONSENSE|tgC/tgA|p.Cys1238*/c.3714C>A|8221|MUC19|protein_coding|CODING|NM_173600.2|31|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.7168,0.5663,0.5447,,,,,,0.000(P),,,.,7.664303,5.24,-5.41,-0.143000,-1.009000,0.215000,0.908000,0.382000,0.647000,14.652
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Ile1278Met/c.3834C>G,atC/atG,MODERATE,COSM3811967(1),0.518371,0.4742,rs7966110,0.01(D),,1.795(L),-0.8961(T),,chr12,40835734,40835734,C,G,het,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile1278Met/c.3834C>G|8221|MUC19|protein_coding|CODING|NM_173600.2|32|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.7168,0.5663,0.5447,,,,,,0.000(P),,0.0000(T),0.275,2.715889,4.95,3.09,-0.439000,1.210000,-0.406000,0.976000,1.000000,0.303000,8.9957
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Val1493Ala/c.4478T>C,gTg/gCg,MODERATE,,0.518371,0.4752,rs10784621,0.86(T),,-2.645(N),-0.9440(T),,chr12,40838216,40838216,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1493Ala/c.4478T>C|8221|MUC19|protein_coding|CODING|NM_173600.2|36|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.7168,0.5663,0.5437,,,,,,0.000(P),,0.0000(T),0.302,-1.599815,4.67,4.67,-0.119000,1.302000,2.275000,0.003000,0.033000,0.929000,12.7281
synonymous_variant,MUC19,SILENT,NM_173600.2:p.Leu1591Leu/c.4771T>C,Ttg/Ctg,LOW,COSM3998787(1),0.518371,0.4742,rs10878597,,,,,,chr12,40840325,40840325,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1591Leu/c.4771T>C|8221|MUC19|protein_coding|CODING|NM_173600.2|38|1|WARNING_TRANSCRIPT_INCOMPLETE),"NHEK:CTCF,HUVEC:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,HepG2:CTCF,GM12878:Rad21,GM06990:CTCF",,,,0.7168,0.5663,0.5447,,,,,,,,,,,,,,,,,,,
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Thr1688Ala/c.5062A>G,Aca/Gca,MODERATE,COSM3811968(1),0.0333466,0.001,rs17128233,0.71(T),,0(N),-1.0237(T),,chr12,40852535,40852535,A,G,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr1688Ala/c.5062A>G|8221|MUC19|protein_coding|CODING|NM_173600.2|44|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.5062A>G|8221|MUC19|protein_coding|CODING|NM_173600.2|44|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.0521,0.0288,0.0616,,,,,,1.000(N),,0.0043(T),0.14,1.278442,3.11,0.746,0.477000,0.141000,0.803000,0.349000,0.048000,0.595000,4.7853
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Glu1762Ala/c.5285A>C,gAa/gCa,MODERATE,,0.692093,0.6607,rs2933353,0.77(T),,0(N),-0.9750(T),,chr12,40857943,40857943,A,C,hom,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu1762Ala/c.5285A>C|8221|MUC19|protein_coding|CODING|NM_173600.2|47|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.8476,0.7622,0.7475,,,,,,1.000(P),,0.0000(T),0.306,-1.368558,2.4,0.529,-0.709000,-0.151000,-1.103000,0.029000,0.002000,0.000000,2.5809
missense_variant,MUC19,MISSENSE,NM_173600.2:p.Trp6248Cys/c.18744G>T,tgG/tgT,MODERATE,,0.519968,0.5407,rs386608249,,,,,,chr12,40894964,40894964,G,T,het,missense_variant(MODERATE|MISSENSE|tgG/tgT|p.Trp6248Cys/c.18744G>T|8221|MUC19|protein_coding|CODING|NM_173600.2|64|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.6411,0.5591,0.5586,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC19,SILENT,NM_173600.2:p.Pro7020Pro/c.21060T>C,ccT/ccC,LOW,,0.656949,0.5605,rs2933351,,,,,,chr12,40920110,40920110,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro7020Pro/c.21060T>C|8221|MUC19|protein_coding|CODING|NM_173600.2|108|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.6534,0.6499,0.7048,,,,,,,,,,,,,,,,,,,
stop_gained,MUC19,NONSENSE,NM_173600.2:p.Gln7192*/c.21574C>T,Cag/Tag,HIGH,,0.0183706,0,rs111332615,,,,,MUC19:1.00(1);MUC19:1.00(1);,chr12,40925050,40925050,C,T,het,stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln7192*/c.21574C>T|8221|MUC19|protein_coding|CODING|NM_173600.2|118|1|WARNING_TRANSCRIPT_INCOMPLETE),NHEK:H3K27me3,,,,0.0327,0.0245,0.0408,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDZRN4,SILENT,NM_001164595.1:p.Arg111Arg/c.333G>C,cgG/cgC,LOW,COSM4147020(3),0.729233,0.7619,rs10879830,,,,,,chr12,41582590,41582590,G,C,hom,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg111Arg/c.333G>C|1036|PDZRN4|protein_coding|CODING|NM_001164595.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7996,0.7695,0.675,0.76,0.77,0.76,,,,,,,,,,,,,,,,
missense_variant,PDZRN4,MISSENSE,NM_001164595.1:p.Gly116Arg/c.346G>C,Ggg/Cgg,MODERATE,COSM4147021(2),0.608626,0.5843,rs10879831,0.29(T),,1.385(L),-0.9598(T),,chr12,41582603,41582603,G,C,hom,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly116Arg/c.346G>C|1036|PDZRN4|protein_coding|CODING|NM_001164595.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7065,0.6729,0.6362,,,,,,0.999(P),-0.58(T),0.0000(T),0.14,-0.188076,1.72,-3.43,-2.549000,-2.695000,-0.030000,0.001000,0.000000,0.000000,1.4975
missense_variant,PDZRN4,MISSENSE,NM_001164595.1:p.Gly429Ser/c.1285G>A,Ggc/Agc,MODERATE,,0.166733,0.1081,rs285584,0(D),"0.955,0.916,0.823(D,D,P)",1.93(M),-1.1917(T),,chr12,41946539,41946539,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly429Ser/c.1285G>A|1036|PDZRN4|protein_coding|CODING|NM_001164595.1|6|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly171Ser/c.511G>A|778|PDZRN4|protein_coding|CODING|NM_013377.3|4|1)",,,,,0.1483,0.1196,0.159,0.19,0.24,0.16,,0.000000(D),0.000(P),"0.44,0.44,0.44(T,T,T)",0.0001(T),0.69,5.461185,5.04,5.04,0.563000,2.715000,6.547000,0.952000,0.971000,1.000000,19.2682
synonymous_variant,GXYLT1,SILENT,NM_173601.1:p.Asn322Asn/c.966T>C,aaT/aaC,LOW,,,,,,,,,,chr12,42491734,42491734,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn291Asn/c.873T>C|409|GXYLT1|protein_coding|CODING|NM_001099650.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn322Asn/c.966T>C|440|GXYLT1|protein_coding|CODING|NM_173601.1|6|1)","CD4:H2AZ,CD4:H2BK5ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,K562:H3K9ac,CD4:H3K36ac,NHEK:H3K36me3,CD4:H3K4ac,HUVEC:H3K27ac,CD4:H2BK120ac,K562:H3K4me2,CD4:H2BK12ac",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,GXYLT1,SILENT,NM_173601.1:p.Thr171Thr/c.513A>G,acA/acG,LOW,COSM3753222(1),0.352037,0.4365,rs7312933,,,,,,chr12,42503467,42503467,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr140Thr/c.420A>G|409|GXYLT1|protein_coding|CODING|NM_001099650.1|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr171Thr/c.513A>G|440|GXYLT1|protein_coding|CODING|NM_173601.1|4|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.4775,0.3012,0.3787,0.33,0.23,0.37,,,,,,,,,,,,,,,,
synonymous_variant,YAF2,SILENT,NM_001190979.1:p.Ala167Ala/c.501T>C,gcT/gcC,LOW,,0.365815,0.4573,rs1059360,,,,,,chr12,42554505,42554505,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala101Ala/c.303T>C|138|YAF2|protein_coding|CODING|NM_001190977.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala167Ala/c.501T>C|204|YAF2|protein_coding|CODING|NM_001190979.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala143Ala/c.429T>C|180|YAF2|protein_coding|CODING|NM_005748.4|4|1),non_coding_exon_variant(MODIFIER|||n.698T>C||YAF2||CODING|NR_034000.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4591,0.2896,0.3946,0.34,0.27,0.38,,,,,,,,,,,,,,,,
missense_variant,PPHLN1,MISSENSE,NM_001143787.1:p.Gln341Pro/c.1022A>C,cAa/cCa,MODERATE,COSM4147030(1),0.96266,1,rs1669885,1(T),"0.0,0.0(B,B)",0(N),-0.8653(T),,chr12,42839836,42839836,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln341Pro/c.1022A>C|434|PPHLN1|protein_coding|CODING|NM_001143787.1|11|1),intron_variant(MODIFIER|||c.1126-32A>C|458|PPHLN1|protein_coding|CODING|NM_016488.6|11|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,,,,,,1.000(P),,0.0000(T),0.079,-0.806268,0.158,-0.317,-2.460000,-2.473000,-2.268000,0.043000,0.042000,0.015000,.
synonymous_variant,PRICKLE1,SILENT,NM_001144881.1:p.Ser634Ser/c.1902T>C,tcT/tcC,LOW,,0.429313,0.4137,rs3747562,,,,,,chr12,42854205,42854205,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser634Ser/c.1902T>C|831|PRICKLE1|protein_coding|CODING|NM_001144881.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser634Ser/c.1902T>C|831|PRICKLE1|protein_coding|CODING|NM_001144882.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser634Ser/c.1902T>C|831|PRICKLE1|protein_coding|CODING|NM_001144883.1|8|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser634Ser/c.1902T>C|831|PRICKLE1|protein_coding|CODING|NM_153026.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000082658.3,,0.3497,0.4841,0.4284,0.44,0.46,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PRICKLE1,SILENT,NM_001144881.1:p.Phe633Phe/c.1899T>C,ttT/ttC,LOW,,0.270567,0.256,rs3747563,,,,,,chr12,42854208,42854208,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe633Phe/c.1899T>C|831|PRICKLE1|protein_coding|CODING|NM_001144881.1|8|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe633Phe/c.1899T>C|831|PRICKLE1|protein_coding|CODING|NM_001144882.1|8|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe633Phe/c.1899T>C|831|PRICKLE1|protein_coding|CODING|NM_001144883.1|8|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe633Phe/c.1899T>C|831|PRICKLE1|protein_coding|CODING|NM_153026.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000118050.2,,0.2495,0.3847,0.3678,0.30,0.20,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS20,SILENT,NM_025003.3:p.Thr1800Thr/c.5400T>G,acT/acG,LOW,COSM3998792(1),0.222444,0.1002,rs10506226,,,,,,chr12,43769228,43769228,A,C,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr1800Thr/c.5400T>G|1910|ADAMTS20|protein_coding|CODING|NM_025003.3|36|1),,,,,0.1728,0.1239,0.1998,0.26,0.37,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS20,SILENT,NM_025003.3:p.Arg1784Arg/c.5352A>G,agA/agG,LOW,COSM3998794(1),0.223842,0.1002,rs10880473,,,,,,chr12,43769276,43769276,T,C,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg1784Arg/c.5352A>G|1910|ADAMTS20|protein_coding|CODING|NM_025003.3|36|1),,,,,0.1728,0.1239,0.1998,0.26,0.37,0.21,,,,,,,,,,,,,,,,
synonymous_variant,DBX2,SILENT,NM_001004329.2:p.Ala338Ala/c.1014T>C,gcT/gcC,LOW,,0.734225,0.7887,rs1224442,,,,,,chr12,45410075,45410075,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala338Ala/c.1014T>C|339|DBX2|protein_coding|CODING|NM_001004329.2|4|1),,,,,0.8732,0.732,0.5825,0.62,0.67,0.59,,,,,,,,,,,,,,,,
missense_variant,DBX2,MISSENSE,NM_001004329.2:p.Met171Val/c.511A>G,Atg/Gtg,MODERATE,,0.725839,0.8075,rs2731038,1(T),0.0(B),-0.46(N),-0.9457(T),,chr12,45417666,45417666,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met171Val/c.511A>G|339|DBX2|protein_coding|CODING|NM_001004329.2|3|1),,,,,0.8753,0.7277,0.5835,0.60,0.62,0.59,,0.118400(N),1.000(P),-2.61(D),0.0000(T),0.018,-2.024124,5.49,3.42,-0.119000,0.708000,-0.138000,0.468000,0.175000,0.000000,6.4199
synonymous_variant,DBX2,SILENT,NM_001004329.2:p.Ala65Ala/c.195C>T,gcC/gcT,LOW,,0.0591054,0.1964,rs139910495,,,,,,chr12,45444516,45444516,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala65Ala/c.195C>T|339|DBX2|protein_coding|CODING|NM_001004329.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0337,0.0461,0.007,0.01,0.01,0.01,,,,,,,,,,,,,,,,
synonymous_variant,SLC38A4,SILENT,NM_001143824.1:p.Pro411Pro/c.1233C>T,ccC/ccT,LOW,,0.997404,1,rs180414,,,,,,chr12,47168898,47168898,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro411Pro/c.1233C>T|547|SLC38A4|protein_coding|CODING|NM_001143824.1|13|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro411Pro/c.1233C>T|547|SLC38A4|protein_coding|CODING|NM_018018.4|14|1)",HSMM:H3K36me3,,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,SLC38A4,MISSENSE,NM_001143824.1:p.Gly29Arg/c.85G>A,Ggg/Agg,MODERATE,,0.136581,0.245,rs2429467,0.61(T),0.022(B),0.69(N),-1.0044(T),,chr12,47186770,47186770,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly29Arg/c.85G>A|547|SLC38A4|protein_coding|CODING|NM_001143824.1|2|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly29Arg/c.85G>A|547|SLC38A4|protein_coding|CODING|NM_018018.4|3|1)",HSMM:H3K36me3,,,,0.227,0.2248,0.0417,0.04,0.03,0.05,,0.001477(N),1.000(P),"3.81,3.81,2.34,2.01(T,T,T,T)",0.0000(T),0.33,-0.672454,5.53,-1.99,-1.094000,-1.137000,0.061000,0.120000,0.000000,0.000000,8.125
synonymous_variant,AMIGO2,SILENT,NM_181847.4:p.Pro449Pro/c.1347C>T,ccC/ccT,LOW,COSM3753243(1),0.221645,0.124,rs2269828,,,,,,chr12,47471439,47471439,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro449Pro/c.1347C>T|522|AMIGO2|protein_coding|CODING|NM_181847.4|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro449Pro/c.1347C>T|522|AMIGO2|protein_coding|CODING|NM_001143668.1|3|1),upstream_gene_variant(MODIFIER||1947||432|PCED1B|protein_coding|CODING|NM_001281429.1||1),upstream_gene_variant(MODIFIER||1947||432|PCED1B|protein_coding|CODING|NM_138371.2||1)","HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,HMEC:H3K4me2,NH-A:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,HSMM:H3K79me2",,,,0.2904,0.2882,0.3211,0.27,0.17,0.32,,,,,,,,,,,,,,,,
missense_variant,RAPGEF3,MISSENSE,NM_001098531.2:p.Gly374Ser/c.1120G>A,Ggc/Agc,MODERATE,COSM3998814(2),0.0902556,0.0298,rs12422983,0.19(T),"0.034,0.709(B,P)",0.55(N),-1.0611(T),,chr12,48142636,48142636,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly374Ser/c.1120G>A|923|RAPGEF3|protein_coding|CODING|NM_001098531.2|11|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly332Ser/c.994G>A|881|RAPGEF3|protein_coding|CODING|NM_001098532.2|10|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly332Ser/c.994G>A|881|RAPGEF3|protein_coding|CODING|NM_006105.5|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0511,0.1354,0.1451,0.13,0.11,0.15,,0.698024(N),1.000(P),"-0.26,-0.26,-0.26,-0.26,-0.26,-0.43,-0.32(T,T,T,T,T,T,T)",0.0017(T),0.191,1.020728,4.19,3.3,0.650000,1.349000,0.404000,0.065000,0.023000,0.000000,5.7708
missense_variant,RAPGEF3,MISSENSE,NM_001098531.2:p.Arg193Gly/c.577A>G,Aga/Gga,MODERATE,COSM4147067(1),0.9998,1,rs2016123,0.52(T),"0.0,0.0(B,B)",0(N),-0.9850(T),,chr12,48144925,48144925,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg193Gly/c.577A>G|923|RAPGEF3|protein_coding|CODING|NM_001098531.2|6|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg151Gly/c.451A>G|881|RAPGEF3|protein_coding|CODING|NM_001098532.2|5|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg151Gly/c.451A>G|881|RAPGEF3|protein_coding|CODING|NM_006105.5|6|1)","HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,0.999,1.00,1.00,1.00,,0.005835(N),1.000(P),"2.64,2.64,2.64,2.64,2.64,2.64,2.64,2.64(T,T,T,T,T,T,T,T)",0.0000(T),0.566,-0.388694,4.97,4.06,-0.215000,0.619000,1.852000,0.096000,0.003000,0.005000,4.476
missense_variant,RAPGEF3,MISSENSE,NM_001098531.2:p.Ala16Pro/c.46G>C,Gct/Cct,MODERATE,COSM4147068(1),0.296925,0.2004,rs11168230,0.28(T),"0.0,0.004,0.001(B,B,B)",0.55(N),-1.0103(T),,chr12,48151822,48151822,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala16Pro/c.46G>C|923|RAPGEF3|protein_coding|CODING|NM_001098531.2|2|1),5_prime_UTR_variant(MODIFIER||81|c.-81G>C|881|RAPGEF3|protein_coding|CODING|NM_006105.5|2|1),5_prime_UTR_variant(MODIFIER||81|c.-81G>C|881|RAPGEF3|protein_coding|CODING|NM_001098532.2|1|1)","HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K27me3,HMEC:H3K4me2,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.3732,0.2709,0.335,0.29,0.27,0.30,,,0.000(P),"0.02,0.02,0.02(T,T,T)",0.0000(T),0.389,3.029273,5.12,1.99,0.591000,0.540000,0.843000,0.989000,0.918000,0.037000,4.294
synonymous_variant,VDR,SILENT,NM_001017536.1:p.Ile402Ile/c.1206T>C,atT/atC,LOW,COSM431157(4),0.276558,0.0675,rs386609145,,,,,,chr12,48238757,48238757,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile352Ile/c.1056T>C|427|VDR|protein_coding|CODING|NM_000376.2|10|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile352Ile/c.1056T>C|427|VDR|protein_coding|CODING|NM_001017535.1|11|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile402Ile/c.1206T>C|477|VDR|protein_coding|CODING|NM_001017536.1|10|1)","HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3691,0.255,0.3996,0.36,0.28,0.39,,,,,,,,,,,,,,,,
start_lost,VDR,MISSENSE,NM_000376.2:p.Met1?/c.2T>C,aTg/aCg,HIGH,COSM3753248(1),0.671526,0.5823,rs2228570,0(D),"0.275,0.848(B,P)",,-0.9252(T),VDR:0.67(3);,chr12,48272895,48272895,A,G,het,"start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|427|VDR|protein_coding|CODING|NM_000376.2|3|1),start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|427|VDR|protein_coding|CODING|NM_001017535.1|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met51Thr/c.152T>C|477|VDR|protein_coding|CODING|NM_001017536.1|3|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7352,0.5173,0.6223,0.67,0.79,0.61,,0.000031(D),0.000(P),"-3.24,-3.24,-3.24,-3.12,-2.88,-3.32,-3.16(D,D,D,D,D,D,D)",0.0000(T),0.307,3.376748,5.58,2.89,0.533000,0.944000,4.298000,0.968000,1.000000,1.000000,9.9501
missense_variant,TMEM106C,MISSENSE,NM_001143842.1:p.Val103Phe/c.307G>T,Gtt/Ttt,MODERATE,COSM3753250(1),0.0247604,0.0139,rs35000511,0.11(T),"0.018,0.011(B,B)",1.21(L),-1.1032(T),,chr12,48359676,48359676,G,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val103Phe/c.307G>T|231|TMEM106C|protein_coding|CODING|NM_001143841.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val103Phe/c.307G>T|250|TMEM106C|protein_coding|CODING|NM_001143842.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val103Phe/c.307G>T|231|TMEM106C|protein_coding|CODING|NM_001143843.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val103Phe/c.307G>T|250|TMEM106C|protein_coding|CODING|NM_024056.3|4|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0133,0.0231,0.0686,0.05,0.02,0.07,,0.003781(N),1.000(D),"1.69,1.69,1.69,1.69,1.69,1.69,1.69(T,T,T,T,T,T,T)",0.0052(T),0.238,2.423500,4.48,3.56,0.655000,1.424000,3.089000,0.999000,1.000000,1.000000,13.0931
missense_variant,COL2A1,MISSENSE,NM_001844.4:p.Val1331Ile/c.3991G>A,Gtt/Att,MODERATE,COSM3753252(1),0.0255591,0.0139,rs12721427,1(T),"0.002,0.003(B,B)",0.07(N),-1.0461(T),,chr12,48368541,48368541,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1331Ile/c.3991G>A|1487|COL2A1|protein_coding|CODING|NM_001844.4|52|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1262Ile/c.3784G>A|1418|COL2A1|protein_coding|CODING|NM_033150.2|51|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0153,0.0231,0.0706,0.05,0.02,0.07,,0.000018(D),0.998(N),"-0.72,-0.72(T,T)",0.0124(T),0.068,-1.351573,4.93,4.93,0.561000,2.444000,1.601000,0.171000,0.123000,0.857000,7.0805
synonymous_variant,COL2A1,SILENT,NM_001844.4:p.Asn800Asn/c.2400T>C,aaT/aaC,LOW,COSM1606169(3),0.482827,0.5476,rs1635553,,,,,,chr12,48375568,48375568,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn800Asn/c.2400T>C|1487|COL2A1|protein_coding|CODING|NM_001844.4|36|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn731Asn/c.2193T>C|1418|COL2A1|protein_coding|CODING|NM_033150.2|35|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,RCV000079724.1,,0.5092,0.3703,0.4632,0.45,0.45,0.46,,,,,,,,,,,,,,,,
synonymous_variant,COL2A1,SILENT,NM_001844.4:p.Gly765Gly/c.2295C>T,ggC/ggT,LOW,,0.429712,0.5556,rs2276454,,,,,,chr12,48376291,48376291,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly765Gly/c.2295C>T|1487|COL2A1|protein_coding|CODING|NM_001844.4|34|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly696Gly/c.2088C>T|1418|COL2A1|protein_coding|CODING|NM_033150.2|33|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4939,0.3501,0.3926,0.39,0.35,0.41,,,,,,,,,,,,,,,,
synonymous_variant,COL2A1,SILENT,NM_001844.4:p.Gly168Gly/c.504C>A,ggC/ggA,LOW,COSM3753254(2),0.219249,0.3036,rs3737548,,,,,,chr12,48391416,48391416,G,T,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly168Gly/c.504C>A|1487|COL2A1|protein_coding|CODING|NM_001844.4|7|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly99Gly/c.297C>A|1418|COL2A1|protein_coding|CODING|NM_033150.2|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.2086,0.2277,0.2356,0.20,0.16,0.22,,,,,,,,,,,,,,,,
missense_variant,COL2A1,MISSENSE,NM_001844.4:p.Thr9Ser/c.25A>T,Acg/Tcg,MODERATE,COSM3753256(2),0.685304,0.5685,rs3803183,0.9(T),"0.001,0.0(B,B)",0(N),-0.9478(T),,chr12,48398080,48398080,T,A,hom,"missense_variant(MODERATE|MISSENSE|Acg/Tcg|p.Thr9Ser/c.25A>T|1487|COL2A1|protein_coding|CODING|NM_001844.4|1|1),missense_variant(MODERATE|MISSENSE|Acg/Tcg|p.Thr9Ser/c.25A>T|1418|COL2A1|protein_coding|CODING|NM_033150.2|1|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,RCV000079725.1,,0.7505,0.6254,0.836,0.79,0.69,0.84,,0.000260(N),0.923(P),"-2.49,-2.43(D,D)",0.0000(T),0.07,2.394909,4.2,2.88,0.533000,0.486000,1.888000,0.848000,1.000000,1.000000,7.296
synonymous_variant,SENP1,SILENT,NM_001267594.1:p.Leu168Leu/c.504T>C,ctT/ctC,LOW,COSM147488(1),0.160343,0.2371,rs886588,,,,,,chr12,48477422,48477422,A,G,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu168Leu/c.504T>C|644|SENP1|protein_coding|CODING|NM_001267594.1|6|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu168Leu/c.504T>C|644|SENP1|protein_coding|CODING|NM_001267595.1|6|1),non_coding_exon_variant(MODIFIER|||n.1270T>C||SENP1||CODING|NR_051991.1|7|1),non_coding_exon_variant(MODIFIER|||n.1283T>C||SENP1||CODING|NR_051992.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1575,0.1744,0.2177,0.17,0.07,0.22,,,,,,,,,,,,,,,,
synonymous_variant,PFKM,SILENT,NM_001166686.1:p.Thr153Thr/c.459G>A,acG/acA,LOW,,0.0271565,0,rs2228501,,,,,,chr12,48526659,48526659,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr82Thr/c.246G>A|780|PFKM|protein_coding|CODING|NM_000289.5|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr153Thr/c.459G>A|851|PFKM|protein_coding|CODING|NM_001166686.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr82Thr/c.246G>A|780|PFKM|protein_coding|CODING|NM_001166687.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr82Thr/c.246G>A|780|PFKM|protein_coding|CODING|NM_001166688.1|4|1),downstream_gene_variant(MODIFIER||9|||MIR6505||NON_CODING|NR_106760.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0102,0.0346,0.0835,0.06,0.03,0.08,,,,,,,,,,,,,,,,
missense_variant,PFKM,MISSENSE,NM_001166686.1:p.Arg171Gln/c.512G>A,cGa/cAa,MODERATE,COSM3753258(1),0.147764,0.1935,rs2228500,0.34(T),"0.004,0.001,0.003(B,B,B)",0.18(N),-1.1128(T),,chr12,48526712,48526712,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg100Gln/c.299G>A|780|PFKM|protein_coding|CODING|NM_000289.5|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg171Gln/c.512G>A|851|PFKM|protein_coding|CODING|NM_001166686.1|7|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg100Gln/c.299G>A|780|PFKM|protein_coding|CODING|NM_001166687.1|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg100Gln/c.299G>A|780|PFKM|protein_coding|CODING|NM_001166688.1|4|1),downstream_gene_variant(MODIFIER||62|||MIR6505||NON_CODING|NR_106760.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1564,0.1628,0.2137,0.17,0.07,0.22,,0.005511(N),0.102(P),"-1.38,-1.38,-1.38,-1.38,-1.38,-1.38,-1.38,-1.38,-1.38,-1.38,-1.38,-1.38(T,T,T,T,T,T,T,T,T,T,T,T)",0.0001(T),0.215,2.090597,4.54,1.73,0.555000,0.413000,1.053000,0.998000,0.999000,0.020000,6.7518
synonymous_variant,ASB8,SILENT,NM_024095.3:p.Val144Val/c.432C>G,gtC/gtG,LOW,,0.0269569,0,rs3936179,,,,,,chr12,48543584,48543584,G,C,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val144Val/c.432C>G|288|ASB8|protein_coding|CODING|NM_024095.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0346,0.0835,0.06,0.03,0.08,,,,,,,,,,,,,,,,
missense_variant,CCDC184,MISSENSE,NM_001013635.3:p.Glu140Asp/c.420A>C,gaA/gaC,MODERATE,COSM3753262(6),0.594649,0.3581,rs10783231,1(T),0.0(B),0(N),-0.9597(T),,chr12,48578325,48578325,A,C,het,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu140Asp/c.420A>C|194|CCDC184|protein_coding|CODING|NM_001013635.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,NH-A:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6503,0.5187,0.7873,0.75,0.67,0.78,,0.184718(N),1.000(P),0.97(T),0.0000(T),0.038,-0.927636,5.11,-1.67,-0.991000,-0.431000,-0.770000,0.049000,0.164000,0.052000,1.9243
missense_variant,OR10AD1,MISSENSE,NM_001004134.1:p.Tyr279His/c.835T>C,Tac/Cac,MODERATE,COSM147489(2),0.196286,0.1935,rs11168459,0(D),0.899(P),3.095(M),-0.9376(T),,chr12,48596241,48596241,A,G,het,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr279His/c.835T>C|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1033,0.1916,0.2117,0.23,0.26,0.22,,0.003189(N),0.334(P),8.11(T),0.0000(T),0.165,3.393798,4.96,3.81,0.533000,1.030000,8.441000,0.813000,1.000000,1.000000,9.0035
synonymous_variant,OR10AD1,SILENT,NM_001004134.1:p.Pro274Pro/c.822T>G,ccT/ccG,LOW,,0.0423323,0.006,rs11830378,,,,,,chr12,48596254,48596254,A,C,het,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro274Pro/c.822T>G|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0102,0.036,0.0924,0.08,0.06,0.09,,,,,,,,,,,,,,,,
missense_variant,OR10AD1,MISSENSE,NM_001004134.1:p.Trp198Arg/c.592T>A,Tgg/Agg,MODERATE,,0.0425319,0.006,rs75413005,0.15(T),0.0(B),-0.61(N),-1.0469(T),,chr12,48596484,48596484,A,T,het,missense_variant(MODERATE|MISSENSE|Tgg/Agg|p.Trp198Arg/c.592T>A|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0112,0.036,0.0924,0.08,0.06,0.09,,0.491221(N),1.000(N),8.79(T),0.0000(T),0.027,-0.636810,4.77,2.31,-0.448000,0.070000,-0.220000,0.183000,0.000000,0.000000,2.6005
missense_variant,OR10AD1,MISSENSE,NM_001004134.1:p.Ser177Asn/c.530G>A,aGc/aAc,MODERATE,,0.0425319,0.006,rs75531856,0.02(D),0.0(B),-0.59(N),-0.9943(T),,chr12,48596546,48596546,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser177Asn/c.530G>A|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0112,0.036,0.0924,0.08,0.06,0.09,,0.000680(N),1.000(N),8.68(T),0.0000(T),0.016,1.226799,4.83,3.69,-0.361000,0.439000,2.446000,0.469000,0.627000,1.000000,7.8654
missense_variant,OR10AD1,MISSENSE,NM_001004134.1:p.Arg166Gln/c.497G>A,cGa/cAa,MODERATE,,0.0245607,0,rs17224674,0.54(T),0.009(B),-0.095(N),-1.1387(T),,chr12,48596579,48596579,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg166Gln/c.497G>A|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0092,0.0317,0.0815,0.06,0.02,0.08,,0.341831(N),1.000(N),8.67(T),0.0000(T),0.034,-0.122722,4.83,0.729,0.561000,0.348000,-2.917000,0.001000,0.000000,0.000000,3.3589
synonymous_variant,OR10AD1,SILENT,NM_001004134.1:p.Leu145Leu/c.435T>C,ctT/ctC,LOW,,0.0245607,0,rs75539159,,,,,,chr12,48596641,48596641,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu145Leu/c.435T>C|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0092,0.0317,0.0815,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,OR10AD1,SILENT,NM_001004134.1:p.Phe62Phe/c.186C>T,ttC/ttT,LOW,,0.0425319,0.006,rs111181097,,,,,,chr12,48596890,48596890,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe62Phe/c.186C>T|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0112,0.036,0.0924,0.08,0.06,0.09,,,,,,,,,,,,,,,,
missense_variant,OR10AD1,MISSENSE,NM_001004134.1:p.Val8Ala/c.23T>C,gTg/gCg,MODERATE,COSM431175(2),0.140775,0.1935,rs17122812,0.05(D),0.138(B),2.08(M),-0.9561(T),,chr12,48597053,48597053,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val8Ala/c.23T>C|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1033,0.1643,0.2107,0.17,0.08,0.22,,0.434418(N),0.995(P),5.57(T),0.0000(T),0.054,0.710317,5.07,3.93,0.460000,0.894000,3.127000,0.014000,0.286000,0.038000,7.5959
synonymous_variant,OR10AD1,SILENT,NM_001004134.1:p.Asn4Asn/c.12T>C,aaT/aaC,LOW,,0.0423323,0.006,rs17224828,,,,,,chr12,48597064,48597064,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn4Asn/c.12T>C|317|OR10AD1|protein_coding|CODING|NM_001004134.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0112,0.036,0.0915,0.08,0.06,0.09,,,,,,,,,,,,,,,,
missense_variant,H1FNT,MISSENSE,NM_181788.1:p.Arg174Gln/c.521G>A,cGg/cAg,MODERATE,,0.161142,0.2212,rs1471997,0.14(T),0.006(B),1.32(L),-0.9894(T),,chr12,48723595,48723595,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg174Gln/c.521G>A|255|H1FNT|protein_coding|CODING|NM_181788.1|1|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1012,0.2176,0.2137,0.18,0.10,0.22,,0.153839(N),1.000(P),2.18(T),0.0000(T),0.034,1.866692,4.18,-1.27,-1.367000,-0.379000,0.557000,0.023000,0.001000,0.007000,1.7845
missense_variant,C12orf54,MISSENSE,NM_152319.3:p.Arg62Trp/c.184C>T,Cgg/Tgg,MODERATE,,0.024361,0.001,rs61940778,0(D),0.921(D),0.695(N),-1.0841(T),,chr12,48884610,48884610,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg62Trp/c.184C>T|127|C12orf54|protein_coding|CODING|NM_152319.3|6|1),HUVEC:H3K27me3,,,,0.0112,0.049,0.0726,0.05,0.01,0.08,,0.000878(D),0.991(N),"0.23,0.23(T,T)",0.0177(T),0.57,1.956017,5.06,4.15,0.645000,1.477000,2.842000,0.956000,1.000000,1.000000,11.6184
synonymous_variant,C12orf54,SILENT,NM_152319.3:p.Leu117Leu/c.351C>G,ctC/ctG,LOW,COSM3753268(1),0.316893,0.1766,rs9268,,,,,,chr12,48888689,48888689,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu117Leu/c.351C>G|127|C12orf54|protein_coding|CODING|NM_152319.3|8|1),NHEK:H3K36me3,,,,0.3497,0.3689,0.6421,0.51,0.22,0.66,,,,,,,,,,,,,,,,
splice_donor_variant,C12orf54,protein_coding,NM_152319.3:c.425A>G,,HIGH,,0.890375,1,rs2705132,,,,,C12orf54:1.00(1);,chr12,48888763,48888763,A,G,hom,"splice_donor_variant(HIGH|||c.425A>G|127|C12orf54|protein_coding|CODING|NM_152319.3|8|1),intron_variant(MODIFIER|||c.*40+1A>G|127|C12orf54|protein_coding|CODING|NM_152319.3|8|1)",NHEK:H3K36me3,,,,1,0.9683,0.999,0.88,0.65,1.00,,,,,,,,,,,,,,,,
missense_variant,OR8S1,MISSENSE,NM_001005203.2:p.Met48Val/c.142A>G,Atg/Gtg,MODERATE,,0.922324,0.9673,rs2731073,0.25(T),0.0(B),-2.045(N),-0.9839(T),,chr12,48919556,48919556,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met48Val/c.142A>G|359|OR8S1|protein_coding|CODING|NM_001005203.2|1|1),"K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9264,0.9294,0.8847,0.90,0.89,0.90,,0.002187(N),1.000(P),4.13(T),0.0000(T),0.046,-2.827532,4.88,1.7,-0.812000,0.231000,-1.405000,0.141000,0.953000,0.000000,1.462
missense_variant,OR8S1,MISSENSE,NM_001005203.2:p.Arg220His/c.659G>A,cGt/cAt,MODERATE,,0.0692891,0.0288,rs61941963,0.1(T),0.052(B),0.71(N),-1.0467(T),,chr12,48920073,48920073,G,A,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg220His/c.659G>A|359|OR8S1|protein_coding|CODING|NM_001005203.2|1|1),"K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0276,0.1066,0.2018,0.14,0.04,0.20,,0.724611(N),1.000(P),8.72(T),0.0000(T),0.077,-0.998124,5.03,-0.583,0.655000,-0.298000,-0.918000,0.027000,0.000000,0.000000,0.1795
missense_variant,KANSL2,MISSENSE,NM_017822.3:p.Pro445Thr/c.1333C>A,Cca/Aca,MODERATE,COSM3931637(2),0.555711,0.7758,rs3741628,0.27(T),"0.173,0.022,0.034,0.006(B,B,B,B)",1.04(L),-0.9909(T),,chr12,49048738,49048738,G,T,het,"missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro445Thr/c.1333C>A|492|KANSL2|protein_coding|CODING|NM_017822.3|9|1),upstream_gene_variant(MODIFIER||437|||SNORA34||NON_CODING|NR_002968.1||1),upstream_gene_variant(MODIFIER||425|||MIR1291||NON_CODING|NR_031623.1||1),downstream_gene_variant(MODIFIER||1693|||SNORA2A||NON_CODING|NR_002950.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6687,0.5548,0.5437,0.48,0.31,0.56,,0.000708(N),0.000(P),"1.25,0.83,0.83,1.28(T,T,T,T)",0.0000(T),0.117,1.509652,5.72,1.75,0.557000,0.049000,0.199000,0.976000,0.988000,0.995000,1.8743
synonymous_variant,KANSL2,SILENT,NM_017822.3:p.Thr188Thr/c.564A>G,acA/acG,LOW,,0.183307,0.004,rs7303113,,,,,,chr12,49065727,49065727,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr188Thr/c.564A>G|492|KANSL2|protein_coding|CODING|NM_017822.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1595,0.1383,0.3091,0.33,0.29,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CCNT1,SILENT,NM_001240.3:p.Pro678Pro/c.2034C>T,ccC/ccT,LOW,COSM4147078(1),0.59405,0.7768,rs3741632,,,,,,chr12,49086963,49086963,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro678Pro/c.2034C>T|726|CCNT1|protein_coding|CODING|NM_001240.3|9|1),3_prime_UTR_variant(MODIFIER||2637|c.*1315C>T|184|CCNT1|protein_coding|CODING|NM_001277842.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.5692,0.5746,0.55,0.46,0.59,,,,,,,,,,,,,,,,
synonymous_variant,CCNT1,SILENT,NM_001240.3:p.Pro447Pro/c.1341C>G,ccC/ccG,LOW,,0.123203,0.004,rs3013,,,,,,chr12,49087656,49087656,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro447Pro/c.1341C>G|726|CCNT1|protein_coding|CODING|NM_001240.3|9|1),3_prime_UTR_variant(MODIFIER||1944|c.*622C>G|184|CCNT1|protein_coding|CODING|NM_001277842.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.1513,0.121,0.2744,0.25,0.10,0.32,,,,,,,,,,,,,,,,
synonymous_variant,ADCY6,SILENT,NM_015270.3:p.Arg116Arg/c.346C>A,Cga/Aga,LOW,COSM3753275(1),0.150359,0.001,rs3730308,,,,,,chr12,49176872,49176872,G,T,het,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg116Arg/c.346C>A|1115|ADCY6|protein_coding|CODING|NM_020983.2|2|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg116Arg/c.346C>A|1168|ADCY6|protein_coding|CODING|NM_015270.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1973,0.1066,0.1461,0.18,0.23,0.15,,,,,,,,,,,,,,,,
missense_variant,CCDC65,MISSENSE,NM_033124.4:p.His169Asn/c.505C>A,Cac/Aac,MODERATE,COSM3753281(1),0.0177716,0,rs79716342,0.39(T),0.0(B),0.715(N),-0.9026(T),,chr12,49310787,49310787,C,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His26Asn/c.76C>A|341|CCDC65|protein_coding|CODING|NM_001286957.1|4|1),missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His169Asn/c.505C>A|484|CCDC65|protein_coding|CODING|NM_033124.4|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.0102,0.0274,0.0567,0.04,0.01,0.06,,0.451211(N),0.998(N),"4.34,4.34(T,T)",0.0008(T),0.037,0.785599,5.32,5.32,0.655000,2.941000,0.970000,0.910000,0.841000,0.006000,13.2752
missense_variant,CCDC65,MISSENSE,NM_033124.4:p.Arg294Cys/c.880C>T,Cgt/Tgt,MODERATE,COSM3753284(1),0.0177716,0,rs78877829,0.04(D),0.966(D),2.175(M),-0.8944(T),,chr12,49312540,49312540,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg151Cys/c.451C>T|341|CCDC65|protein_coding|CODING|NM_001286957.1|6|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg294Cys/c.880C>T|484|CCDC65|protein_coding|CODING|NM_033124.4|6|1)","IMR90:H3K36me3,CD4:H3K4me2",,,,0.0102,0.0274,0.0567,0.04,0.01,0.06,,0.008603(N),1.000(D),"1.34,0.72,1.35(T,T,T)",0.0354(T),0.428,3.684596,4.72,4.72,0.655000,2.630000,2.687000,0.508000,0.985000,0.989000,16.9918
synonymous_variant,ARF3,SILENT,NM_001659.2:p.Leu39Leu/c.117C>G,ctC/ctG,LOW,,0.923123,1,rs12122,,,,,,chr12,49334762,49334762,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu39Leu/c.117C>G|181|ARF3|protein_coding|CODING|NM_001659.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9785,0.9625,0.9781,0.91,0.78,0.97,,,,,,,,,,,,,,,,
missense_variant,DDN,MISSENSE,NM_015086.1:p.Glu661Gly/c.1982A>G,gAg/gGg,MODERATE,COSM1476598(3),0.438698,0.4425,rs10783299,0.78(T),0.0(B),-0.345(N),-0.9860(T),,chr12,49390677,49390677,T,C,hom,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu661Gly/c.1982A>G|711|DDN|protein_coding|CODING|NM_015086.1|2|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,CD4:DNase1,K562:CTCF,CD4:H2BK20ac,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:Yy1,H1ESC:H3K4me3,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:CTCFL,NHEK:H3K27me3,NH-A:CTCF,HepG2:H3K4me3,K562:Rad21,K562:Yy1,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.4703,0.2939,0.3539,0.42,0.51,0.37,,0.292861(N),1.000(P),0.94(T),0.0000(T),0.01,-0.158200,4.55,-5.81,-0.355000,-2.010000,-1.178000,0.228000,0.000000,0.000000,2.4931
synonymous_variant,KMT2D,SILENT,NM_003482.3:p.Pro4170Pro/c.12510A>G,ccA/ccG,LOW,COSM147495(2),0.275359,0.4454,rs3741622,,,,,,chr12,49425978,49425978,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4170Pro/c.12510A>G|5537|KMT2D|protein_coding|CODING|NM_003482.3|39|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080121.1,,0.4407,0.2363,0.3022,0.25,0.07,0.34,,,,,,,,,,,,,,,,
synonymous_variant,KMT2D,SILENT,NM_003482.3:p.Gln3612Gln/c.10836G>A,caG/caA,LOW,COSM431202(3),0.44349,0.4444,rs3782357,,,,,,chr12,49427652,49427652,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln3612Gln/c.10836G>A|5537|KMT2D|protein_coding|CODING|NM_003482.3|39|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080105.1,,0.4734,0.2911,0.3489,0.42,0.53,0.37,,,,,,,,,,,,,,,,
synonymous_variant,KMT2D,SILENT,NM_003482.3:p.Gly2493Gly/c.7479G>T,ggG/ggT,LOW,COSM3722550(3),0.435503,0.4514,rs10747559,,,,,,chr12,49434074,49434074,C,A,hom,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly2493Gly/c.7479G>T|5537|KMT2D|protein_coding|CODING|NM_003482.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080211.1,,0.4765,0.3271,0.3966,0.42,0.46,0.40,,,,,,,,,,,,,,,,
synonymous_variant,KMT2D,SILENT,NM_003482.3:p.Ile942Ile/c.2826C>T,atC/atT,LOW,COSM147497(3),0.403554,0.4306,rs2241726,,,,,,chr12,49444545,49444545,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile942Ile/c.2826C>T|5537|KMT2D|protein_coding|CODING|NM_003482.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080169.1,,0.4775,0.2911,0.3479,0.39,0.42,0.37,,,,,,,,,,,,,,,,
missense_variant,KMT2D,MISSENSE,NM_003482.3:p.Pro813Leu/c.2438C>T,cCg/cTg,MODERATE,COSM3753295(1),0.0159744,0,rs75226229,0(D),0.0(B),-0.55(N),-1.0208(T),,chr12,49445028,49445028,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro813Leu/c.2438C>T|5537|KMT2D|protein_coding|CODING|NM_003482.3|10|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080165.2,,0.0092,0.0274,0.0487,0.04,0.01,0.05,,,1.000(N),1.42(T),0.0039(T),0.071,0.341913,3.68,-1.4,-0.972000,-0.301000,-0.587000,0.009000,0.028000,0.000000,8.578
synonymous_variant,LMBR1L,SILENT,NM_001300750.1:p.Gly24Gly/c.72C>T,ggC/ggT,LOW,,0.419329,0.6746,rs10783304,,,,,,chr12,49500398,49500398,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly24Gly/c.72C>T|484|LMBR1L|protein_coding|CODING|NM_001300750.1|3|1),intron_variant(MODIFIER|||c.157+346C>T|469|LMBR1L|protein_coding|CODING|NM_001300751.1|2|1),intron_variant(MODIFIER|||c.157+346C>T|489|LMBR1L|protein_coding|CODING|NM_018113.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5573,0.3473,0.327,0.29,0.24,0.32,,,,,,,,,,,,,,,,
synonymous_variant,TUBA1B,SILENT,NM_006082.2:p.Pro173Pro/c.519A>G,ccA/ccG,LOW,COSM4147115(2),0.544928,0.6835,rs1057725,,,,,,chr12,49522578,49522578,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro173Pro/c.519A>G|451|TUBA1B|protein_coding|CODING|NM_006082.2|4|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:SP1,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:HEY1,GM06990:H3K36me3",,,,0.5859,0.3617,0.333,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA1B,SILENT,NM_006082.2:p.Lys164Lys/c.492G>A,aaG/aaA,LOW,COSM4147116(1),0.453275,0.6806,rs1057548,,,,,,chr12,49522605,49522605,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys164Lys/c.492G>A|451|TUBA1B|protein_coding|CODING|NM_006082.2|4|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:SP1,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:HEY1,GM06990:H3K36me3",,,,0.5777,0.3415,0.327,,,,,,,,,,,,,,,,,,,
synonymous_variant,TUBA1A,SILENT,NM_001270399.1:p.Ser151Ser/c.453G>C,tcG/tcC,LOW,,0.547724,0.6885,rs697624,,,,-0.9497(T),,chr12,49579696,49579696,C,G,hom,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser151Ser/c.453G>C|451|TUBA1A|protein_coding|CODING|NM_001270399.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser116Ser/c.348G>C|416|TUBA1A|protein_coding|CODING|NM_001270400.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser151Ser/c.453G>C|451|TUBA1A|protein_coding|CODING|NM_006009.3|4|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5798,0.3588,0.3429,0.44,0.64,0.33,,,0.000(P),,0.0000(T),.,0.289991,5.15,0.167,-1.218000,-0.094000,0.270000,0.752000,0.997000,0.996000,6.7912
synonymous_variant,TUBA1A,SILENT,NM_001270399.1:p.Lys96Lys/c.288A>G,aaA/aaG,LOW,,0.55631,0.6925,rs1056875,0(D),,,-0.9214(T),,chr12,49580180,49580180,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys96Lys/c.288A>G|451|TUBA1A|protein_coding|CODING|NM_001270399.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys61Lys/c.183A>G|416|TUBA1A|protein_coding|CODING|NM_001270400.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys96Lys/c.288A>G|451|TUBA1A|protein_coding|CODING|NM_006009.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3",,,,0.5818,0.366,0.3439,0.44,0.66,0.33,,0.000000(D),0.000(P),0.02(T),0.0000(T),.,1.181768,5.22,3.41,-0.215000,0.327000,0.876000,0.989000,1.000000,1.000000,9.4202
synonymous_variant,PRPH,SILENT,NM_006262.3:p.Lys369Lys/c.1107A>G,aaA/aaG,LOW,COSM3753296(3),0.205272,0.0367,rs73112143,,,,-0.9637(T),,chr12,49691250,49691250,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys369Lys/c.1107A>G|470|PRPH|protein_coding|CODING|NM_006262.3|6|1),non_coding_exon_variant(MODIFIER|||n.736T>C||LOC101927267||NON_CODING|NR_120449.1|5|1)","NHEK:CTCF,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HeLa-S3:CTCF,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,K562:Yy1,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1,H1ESC:CTCF",,RCV000057157.1,,0.1595,0.1484,0.2048,0.25,0.35,0.20,,,0.000(P),,0.0000(T),.,3.596407,5.48,3.65,-0.119000,0.690000,4.851000,0.968000,0.993000,1.000000,9.7563
synonymous_variant,TROAP,SILENT,NM_005480.3:p.Glu445Glu/c.1335A>G,gaA/gaG,LOW,COSM147501(1),0.194089,0.0407,rs4243545,,,,,,chr12,49723963,49723963,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu445Glu/c.1335A>G|778|TROAP|protein_coding|CODING|NM_005480.3|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1564,0.1138,0.1531,0.24,0.38,0.16,,,,,,,,,,,,,,,,
synonymous_variant,C1QL4,SILENT,NM_001008223.1:p.Pro42Pro/c.126C>G,ccC/ccG,LOW,COSM1322471(1),0.090655,0.0248,rs146137821,,,,,,chr12,49730135,49730135,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro42Pro/c.126C>G|238|C1QL4|protein_coding|CODING|NM_001008223.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1084,0.0836,0.1332,0.10,0.08,0.11,,,,,,,,,,,,,,,,
synonymous_variant,KCNH3,SILENT,NM_012284.1:p.Pro10Pro/c.30G>T,ccG/ccT,LOW,COSM431231(2),0.00998403,0,rs148933979,,,,,,chr12,49933229,49933229,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro10Pro/c.30G>T|1083|KCNH3|protein_coding|CODING|NM_012284.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0164,0.0115,0.0258,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,KCNH3,MISSENSE,NM_012284.1:p.Pro856Arg/c.2567C>G,cCt/cGt,MODERATE,COSM3753297(3),0.0323482,0,rs113209368,0.5(T),0.55(P),0(N),0.0844(D),,chr12,49950251,49950251,C,G,het,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro856Arg/c.2567C>G|1083|KCNH3|protein_coding|CODING|NM_012284.1|13|1),downstream_gene_variant(MODIFIER||1826||271|MCRS1|protein_coding|CODING|NM_001278341.1||1),downstream_gene_variant(MODIFIER||1826||462|MCRS1|protein_coding|CODING|NM_006337.4||1),downstream_gene_variant(MODIFIER||1835||475|MCRS1|protein_coding|CODING|NM_001012300.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.0519,0.0547,0.05,0.02,0.07,,0.000506(D),0.818(D),-5.13(D),0.3233(T),0.228,3.411384,6.04,5.16,0.563000,1.571000,3.227000,0.949000,0.983000,0.893000,11.04
missense_variant,KCNH3,MISSENSE,NM_012284.1:p.Pro1015Leu/c.3044C>T,cCt/cTt,MODERATE,COSM3753298(1),0.00738818,0,rs144397719,0.19(T),0.025(B),0(N),0.2671(D),,chr12,49951528,49951528,C,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1015Leu/c.3044C>T|1083|KCNH3|protein_coding|CODING|NM_012284.1|15|1),downstream_gene_variant(MODIFIER||549||271|MCRS1|protein_coding|CODING|NM_001278341.1||1),downstream_gene_variant(MODIFIER||549||462|MCRS1|protein_coding|CODING|NM_006337.4||1),downstream_gene_variant(MODIFIER||558||475|MCRS1|protein_coding|CODING|NM_001012300.1||1)","NHEK:CTCF,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0159,0.0159,0.02,0.01,0.03,,0.000899(D),1.000(D),-5.13(D),0.6032(D),0.095,2.127869,5.02,4.12,0.561000,1.319000,3.676000,0.990000,0.941000,0.397000,11.2615
synonymous_variant,NCKAP5L,SILENT,NM_001037806.3:p.Ser612Ser/c.1836G>T,tcG/tcT,LOW,,0.604233,0.6577,rs2720298,,,,-0.9690(T),,chr12,50189807,50189807,C,A,hom,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser612Ser/c.1836G>T|1334|NCKAP5L|protein_coding|CODING|NM_001037806.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6339,0.598,0.3638,0.47,0.68,0.38,,,1.000(P),,0.0000(T),.,-1.815812,4.28,-4.74,-0.311000,-0.729000,-0.757000,0.160000,0.283000,0.084000,1.8684
synonymous_variant,NCKAP5L,SILENT,NM_001037806.3:p.Val603Val/c.1809A>C,gtA/gtC,LOW,,0.675519,0.8065,rs2603104,,,,-1.0070(T),,chr12,50189834,50189834,T,G,hom,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val603Val/c.1809A>C|1334|NCKAP5L|protein_coding|CODING|NM_001037806.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.683,0.6167,0.3807,0.51,0.76,0.40,,,0.962(P),,0.0000(T),.,-0.635852,4.08,-3.78,-0.217000,-1.037000,-0.939000,0.701000,0.003000,0.000000,2.1643
synonymous_variant,AQP2,SILENT,NM_000486.5:p.Ser167Ser/c.501T>C,tcT/tcC,LOW,COSM1747030(2),0.667133,0.6796,rs426496,,,,,,chr12,50348078,50348078,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser167Ser/c.501T>C|271|AQP2|protein_coding|CODING|NM_000486.5|2|1),intron_variant(MODIFIER|||n.118-2207A>G||LOC101927318||NON_CODING|NR_110591.1|1|1),non_coding_exon_variant(MODIFIER|||n.310A>G||LOC101927318||NON_CODING|NR_110590.1|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6994,0.8357,0.8141,0.69,0.48,0.80,,,,,,,,,,,,,,,,
synonymous_variant,ASIC1,SILENT,NM_020039.3:p.Ser53Ser/c.159C>G,tcC/tcG,LOW,COSM4147136(1),0.927516,0.8542,rs653576,,,,,,chr12,50452708,50452708,C,G,hom,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser53Ser/c.159C>G|528|ASIC1|protein_coding|CODING|NM_001095.3|2|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser53Ser/c.159C>G|574|ASIC1|protein_coding|CODING|NM_020039.3|2|1),non_coding_exon_variant(MODIFIER|||n.455C>G||ASIC1||CODING|NR_046389.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9785,0.8775,0.9811,0.96,0.93,0.98,,,,,,,,,,,,,,,,
missense_variant,ASIC1,MISSENSE,NM_001256830.1:p.Ala93Ser/c.277G>T,Gcg/Tcg,MODERATE,,0.228435,0.0913,rs706792,0.14(T),,,-0.9190(T),,chr12,50467644,50467644,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala93Ser/c.277G>T|562|ASIC1|protein_coding|CODING|NM_001256830.1|1|1),intron_variant(MODIFIER|||n.855-3107G>T||ASIC1||CODING|NR_046389.1|3|1),intron_variant(MODIFIER|||c.559-3352G>T|528|ASIC1|protein_coding|CODING|NM_001095.3|3|1),intron_variant(MODIFIER|||c.559-3352G>T|574|ASIC1|protein_coding|CODING|NM_020039.3|3|1)",HepG2:H3K27me3,,,,0.2658,0.3127,0.4374,,,,,,0.000(P),-0.11(T),0.0000(T),0.348,3.080918,3.65,3.65,0.563000,2.051000,5.603000,0.955000,1.000000,1.000000,9.7267
synonymous_variant,ASIC1,SILENT,NM_001256830.1:p.Pro134Pro/c.402G>A,ccG/ccA,LOW,,0.228035,0.0913,rs706793,,,,,,chr12,50467769,50467769,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro134Pro/c.402G>A|562|ASIC1|protein_coding|CODING|NM_001256830.1|1|1),intron_variant(MODIFIER|||n.855-2982G>A||ASIC1||CODING|NR_046389.1|3|1),intron_variant(MODIFIER|||c.559-3227G>A|528|ASIC1|protein_coding|CODING|NM_001095.3|3|1),intron_variant(MODIFIER|||c.559-3227G>A|574|ASIC1|protein_coding|CODING|NM_020039.3|3|1)",HepG2:H3K27me3,,,,0.2658,0.3112,0.4364,,,,,,,,,,,,,,,,,,,
synonymous_variant,GPD1,SILENT,NM_005276.3:p.Ile339Ile/c.1017C>T,atC/atT,LOW,COSM3753299(2),0.205671,0.0962,rs836180,,,,,,chr12,50503269,50503269,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile316Ile/c.948C>T|326|GPD1|protein_coding|CODING|NM_001257199.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile339Ile/c.1017C>T|349|GPD1|protein_coding|CODING|NM_005276.3|8|1)","HepG2:H3K27ac,HeLa-S3:H3K27ac",,,,0.2035,0.2968,0.3956,0.30,0.14,0.38,,,,,,,,,,,,,,,,
missense_variant,CERS5,MISSENSE,NM_147190.3:p.Cys75Arg/c.223T>C,Tgt/Cgt,MODERATE,,0.806909,0.9077,rs7302981,0.35(T),"0.0,0.0(B,B)",-1.735(N),-0.9894(T),,chr12,50537815,50537815,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys17Arg/c.49T>C|334|CERS5|protein_coding|CODING|NM_001281731.1|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys75Arg/c.223T>C|392|CERS5|protein_coding|CODING|NM_147190.3|2|1),non_coding_exon_variant(MODIFIER|||n.459T>C||CERS5||CODING|NR_104035.1|2|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7945,0.7493,0.6024,0.71,0.88,0.62,,0.177173(N),0.000(P),"-0.28,2.89(T,T)",0.0000(T),0.464,0.197665,4.0,3.11,-0.766000,0.663000,0.620000,0.737000,1.000000,0.003000,7.1507
missense_variant,FAM186A,MISSENSE,NM_001145475.1:p.His2166Tyr/c.6496C>T,Cat/Tat,MODERATE,COSM4147145(1),0.605232,0.7431,rs7296291,1(T),"0.0,0.0(B,B)",-0.345(N),-0.9420(T),,chr12,50744119,50744119,G,A,hom,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His2166Tyr/c.6496C>T|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3",,,,0.4622,0.732,0.659,0.61,0.51,0.65,,,1.000(P),"1.01,1.01,1.01(T,T,T)",0.0000(T),0.049,-1.787780,3.84,-2.21,-1.853000,-0.493000,-0.050000,0.517000,0.857000,0.618000,1.6118
synonymous_variant,FAM186A,SILENT,NM_001145475.1:p.Thr2148Thr/c.6444A>G,acA/acG,LOW,COSM147504(3),0.599441,0.7431,rs7312252,,,,,,chr12,50744171,50744171,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr2148Thr/c.6444A>G|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3",,,,0.4622,0.732,0.659,0.60,0.50,0.65,,,,,,,,,,,,,,,,
synonymous_variant,FAM186A,SILENT,NM_001145475.1:p.Lys1954Lys/c.5862A>G,aaA/aaG,LOW,COSM147505(1),0.605232,0.7431,rs10506292,,,,,,chr12,50744753,50744753,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1954Lys/c.5862A>G|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),,,,,0.4622,0.732,0.659,,,,,,,,,,,,,,,,,,,
synonymous_variant,FAM186A,SILENT,NM_001145475.1:p.Leu1587Leu/c.4759C>T,Ctg/Ttg,LOW,,0.330272,0.4137,rs113879003,,,,,,chr12,50745856,50745856,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1587Leu/c.4759C>T|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),HepG2:H3K27me3,,,,0.2219,0.4164,0.3569,,,,,,,,,,,,,,,,,,,
missense_variant,FAM186A,MISSENSE,NM_001145475.1:p.Phe1423Leu/c.4267T>C,Ttc/Ctc,MODERATE,,0.969848,1,rs7304951,0.41(T),"0.0,0.0(B,B)",-0.55(N),-1.0497(T),,chr12,50746348,50746348,A,G,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe1423Leu/c.4267T>C|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),HepG2:H3K27me3,,,,1,0.9928,0.999,0.97,0.89,1.00,,,1.000(P),"3.76,3.76(T,T)",0.0000(T),0.043,-0.730216,4.84,0.257,-1.383000,-0.088000,0.900000,0.034000,0.000000,0.070000,6.2448
missense_variant,FAM186A,MISSENSE,NM_001145475.1:p.Leu1233Pro/c.3698T>C,cTt/cCt,MODERATE,COSM468488(1),0.609225,0.744,rs10876023,1(T),"0.005,0.0(B,B)",-0.55(N),-1.0085(T),,chr12,50746917,50746917,A,G,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu1233Pro/c.3698T>C|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),HepG2:H3K27me3,,,,0.4683,0.732,0.664,,,,,,1.000(P),"3.67,3.67(T,T)",0.0000(T),0.175,-1.620429,4.36,1.47,-1.288000,-0.020000,-0.822000,0.052000,0.002000,0.000000,3.6574
missense_variant,FAM186A,MISSENSE,NM_001145475.1:p.Arg1204Gly/c.3610A>G,Agg/Ggg,MODERATE,COSM4147151(2),0.605032,0.748,rs10876024,1(T),"0.0,0.0(B,B)",-0.695(N),-0.9926(T),,chr12,50747005,50747005,T,C,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg1204Gly/c.3610A>G|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),HepG2:H3K27me3,,,,0.4622,0.7334,0.662,,,,,,1.000(P),"3.63,3.63(T,T)",0.0000(T),0.071,-1.147387,4.53,3.37,-0.441000,1.059000,-2.003000,0.009000,0.031000,0.000000,3.4399
missense_variant,FAM186A,MISSENSE,NM_001145475.1:p.Ala465Gly/c.1394C>G,gCc/gGc,MODERATE,,0.952476,1,rs4435082,1(T),"0.0,0.0(B,B)",-0.345(N),-0.9753(T),,chr12,50749221,50749221,G,C,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala465Gly/c.1394C>G|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),,,,,0.9806,0.9885,0.999,0.96,0.85,1.00,,,1.000(P),"2.81,2.81(T,T)",0.0000(T),0.048,-1.373397,4.09,-5.66,-0.736000,-1.816000,-1.242000,0.000000,0.000000,0.000000,1.5508
missense_variant,FAM186A,MISSENSE,NM_001145475.1:p.Lys463Thr/c.1388A>C,aAa/aCa,MODERATE,,0.969449,1,rs4625558,1(T),"0.0,0.0(B,B)",-0.345(N),-0.9674(T),,chr12,50749227,50749227,T,G,hom,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys463Thr/c.1388A>C|2351|FAM186A|protein_coding|CODING|NM_001145475.1|4|1),,,,,1,0.9928,0.999,,,,,,1.000(P),"2.78,2.78(T,T)",0.0000(T),0.117,-1.722226,3.34,-2.2,-0.812000,-0.851000,-0.771000,0.001000,0.000000,0.000000,0.8909
missense_variant,FAM186A,MISSENSE,NM_001145475.1:p.Lys187Gln/c.559A>C,Aag/Cag,MODERATE,COSM4147152(1),0.605431,0.7431,rs12303082,0.21(T),0.914(D),0(N),-1.2087(T),,chr12,50754563,50754563,T,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys187Gln/c.559A>C|2351|FAM186A|protein_coding|CODING|NM_001145475.1|3|1),,,,,0.4622,0.7334,0.659,,,,,,0.084(P),"2.79,2.79(T,T)",0.0000(T),0.157,2.327934,4.72,4.72,0.528000,2.134000,3.184000,0.008000,0.018000,0.549000,10.7886
missense_variant,DIP2B,MISSENSE,NM_173602.2:p.Asp265Asn/c.793G>A,Gat/Aat,MODERATE,,0.00279553,0,rs73093419,0.21(T),"0.02,0.874(B,P)",1.53(L),-0.8499(T),,chr12,51068409,51068409,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp265Asn/c.793G>A|1576|DIP2B|protein_coding|CODING|NM_173602.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0058,0.0089,0.01,0.00,0.01,,0.000000(D),1.000(D),0.83(T),0.1613(T),0.037,3.163480,4.64,4.64,0.467000,2.427000,9.017000,0.879000,1.000000,1.000000,17.6985
synonymous_variant,DIP2B,SILENT,NM_173602.2:p.Gln308Gln/c.924G>A,caG/caA,LOW,,,,,,,,,,chr12,51072469,51072469,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln308Gln/c.924G>A|1576|DIP2B|protein_coding|CODING|NM_173602.2|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,DIP2B,SILENT,NM_173602.2:p.Ile1477Ile/c.4431T>C,atT/atC,LOW,,0.959864,1,rs1866422,,,,,,chr12,51135275,51135275,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1477Ile/c.4431T>C|1576|DIP2B|protein_coding|CODING|NM_173602.2|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9827,0.998,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,TMPRSS12,MISSENSE,NM_182559.2:p.Glu62Lys/c.184G>A,Gag/Aag,MODERATE,COSM3753308(2),0.968251,1,rs386616648,0.97(T),"0.0,0.0(B,B)",0(N),-1.0062(T),,chr12,51236931,51236931,G,A,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu62Lys/c.184G>A|348|TMPRSS12|protein_coding|CODING|NM_182559.2|1|1),"NHEK:CTCF,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,H1ESC:Yy1,NHEK:H3K4me2,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,1,0.9914,0.998,0.97,0.91,1.00,,0.555336(N),1.000(P),"-2.39,-2.4(D,D)",0.0000(T),0.068,-0.946063,3.57,-7.15,-3.013000,-2.584000,-1.250000,0.001000,0.001000,0.000000,7.706
missense_variant,TMPRSS12,MISSENSE,NM_182559.2:p.Ala127Thr/c.379G>A,Gct/Act,MODERATE,COSM4147154(1),0.168331,0.0218,rs861204,0.44(T),"0.041,0.004(B,B)",0.03(N),-1.0974(T),,chr12,51237816,51237816,G,A,hom,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala127Thr/c.379G>A|348|TMPRSS12|protein_coding|CODING|NM_182559.2|2|1),,,,,0.1616,0.1974,0.3519,0.28,0.17,0.34,,0.018891(N),1.000(P),"0.22,0.23(T,T)",0.0000(T),0.06,-0.628931,5.34,-10.7,-0.471000,-5.489000,-2.724000,0.578000,0.000000,0.000000,2.8105
missense_variant,SLC11A2,MISSENSE,NM_001174130.1:p.Tyr6Ser/c.17A>C,tAt/tCt,MODERATE,,0.896166,0.9881,rs445520,0.41(T),0.0(B),,-1.0425(T),,chr12,51402905,51402905,T,G,hom,"missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr6Ser/c.17A>C|557|SLC11A2|protein_coding|CODING|NM_001174130.1|1|1),intron_variant(MODIFIER|||n.180-578A>C||SLC11A2||CODING|NR_033421.1|2|1),intron_variant(MODIFIER|||c.35-498A>C|561|SLC11A2|protein_coding|CODING|NM_000617.2|2|1),intron_variant(MODIFIER|||c.122-498A>C|590|SLC11A2|protein_coding|CODING|NM_001174125.1|2|1),intron_variant(MODIFIER|||c.35-498A>C|568|SLC11A2|protein_coding|CODING|NM_001174126.1|2|1),intron_variant(MODIFIER|||c.35-498A>C|568|SLC11A2|protein_coding|CODING|NM_001174127.1|2|1),intron_variant(MODIFIER|||c.35-498A>C|561|SLC11A2|protein_coding|CODING|NM_001174128.1|2|1),intron_variant(MODIFIER|||c.35-498A>C|561|SLC11A2|protein_coding|CODING|NM_001174129.1|2|1),intron_variant(MODIFIER|||n.175-498A>C||SLC11A2||CODING|NR_033422.1|2|1)","CD4:DNase1,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8926,0.9366,0.9304,,,,,,1.000(P),1.96(T),0.0000(T),0.011,0.386247,4.59,-1.98,-0.121000,-0.655000,0.278000,0.052000,0.000000,0.000000,1.2319
missense_variant,POU6F1,MISSENSE,NM_002702.3:p.Ala248Thr/c.742G>A,Gct/Act,MODERATE,,,,,0.23(T),0.014(B),0.555(N),0.2634(D),,chr12,51584194,51584194,C,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala248Thr/c.742G>A|301|POU6F1|protein_coding|CODING|NM_002702.3|6|1),non_coding_exon_variant(MODIFIER|||n.1682G>A||POU6F1||CODING|NR_026893.1|11|1)","HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),"-3.95,-3.95,-3.95(D,D,D)",0.7375(D),0.321,2.889776,5.43,4.53,0.561000,1.272000,1.450000,0.998000,1.000000,0.997000,14.4889
synonymous_variant,DAZAP2,SILENT,NM_001136266.1:p.Leu149Leu/c.447C>T,ctC/ctT,LOW,,0.813299,0.8988,rs1049467,,,,,,chr12,51636259,51636259,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu149Leu/c.447C>T|207|DAZAP2|protein_coding|CODING|NM_001136266.1|4|1),3_prime_UTR_variant(MODIFIER||17|c.*17C>T|146|DAZAP2|protein_coding|CODING|NM_001136264.1|5|1),3_prime_UTR_variant(MODIFIER||17|c.*17C>T|136|DAZAP2|protein_coding|CODING|NM_001136267.1|4|1),3_prime_UTR_variant(MODIFIER||17|c.*17C>T|86|DAZAP2|protein_coding|CODING|NM_001136268.1|3|1),3_prime_UTR_variant(MODIFIER||17|c.*17C>T|168|DAZAP2|protein_coding|CODING|NM_014764.3|4|1),intron_variant(MODIFIER|||c.378+1359C>T|153|DAZAP2|protein_coding|CODING|NM_001136269.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7751,0.8617,0.7614,0.78,0.80,0.77,,,,,,,,,,,,,,,,
missense_variant,BIN2,MISSENSE,NM_016293.3:p.Asn561Asp/c.1681A>G,Aac/Gac,MODERATE,,0.834465,0.9296,rs7954976,1(T),"0.0,0.0,0.0(B,B,B)",-0.695(N),-0.9740(T),,chr12,51681903,51681903,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn503Asp/c.1507A>G|539|BIN2|protein_coding|CODING|NM_001290007.1|11|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn529Asp/c.1585A>G|565|BIN2|protein_coding|CODING|NM_001290008.1|10|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn405Asp/c.1213A>G|441|BIN2|protein_coding|CODING|NM_001290009.1|10|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn561Asp/c.1681A>G|597|BIN2|protein_coding|CODING|NM_016293.3|11|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.9407,0.8963,0.8976,0.80,0.63,0.90,,0.785896(N),1.000(P),"0.46,0.5,0.47(T,T,T)",0.0000(T),0.014,-1.825907,3.01,1.8,-0.215000,0.154000,0.262000,0.002000,0.000000,0.100000,4.9528
synonymous_variant,BIN2,SILENT,NM_016293.3:p.Glu385Glu/c.1155A>G,gaA/gaG,LOW,,0.78115,0.8433,rs3210837,,,,,,chr12,51685831,51685831,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu327Glu/c.981A>G|539|BIN2|protein_coding|CODING|NM_001290007.1|10|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu353Glu/c.1059A>G|565|BIN2|protein_coding|CODING|NM_001290008.1|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu229Glu/c.687A>G|441|BIN2|protein_coding|CODING|NM_001290009.1|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu385Glu/c.1155A>G|597|BIN2|protein_coding|CODING|NM_016293.3|10|1)","K562:CTCF,GM12878:H3K36me3,K562:Rad21,HepG2:H3K27me3,GM06990:H3K36me3,K562:DNase1",,,,0.8712,0.8631,0.8598,0.77,0.59,0.86,,,,,,,,,,,,,,,,
synonymous_variant,SCN8A,SILENT,NM_014191.3:p.Asp192Asp/c.576C>T,gaC/gaT,LOW,,0.784944,0.994,rs4761829,,,,,,chr12,52080965,52080965,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp192Asp/c.576C>T|1939|SCN8A|protein_coding|CODING|NM_001177984.2|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp192Asp/c.576C>T|1980|SCN8A|protein_coding|CODING|NM_014191.3|5|1)","HUVEC:H3K4me3,GM12878:H3K27me3,GM12878:H3K36me3,HUVEC:H3K9ac,HUVEC:DNase1,HUVEC:H3K4me2,HeLa-S3:H3K27me3,HUVEC:H3K27ac",,RCV000118289.2,,0.636,0.8948,0.8618,0.80,0.67,0.86,,,,,,,,,,,,,,,,
synonymous_variant,SCN8A,SILENT,NM_014191.3:p.Pro1503Pro/c.4509T>C,ccT/ccC,LOW,COSM4147173(1),0.503794,0.5724,rs303815,,,,,,chr12,52184271,52184271,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1462Pro/c.4386T>C|1939|SCN8A|protein_coding|CODING|NM_001177984.2|24|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1503Pro/c.4509T>C|1980|SCN8A|protein_coding|CODING|NM_014191.3|25|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,RCV000118283.2,,0.3006,0.7493,0.7306,0.63,0.37,0.75,,,,,,,,,,,,,,,,
synonymous_variant,SCN8A,SILENT,NM_014191.3:p.Pro1824Pro/c.5472C>A,ccC/ccA,LOW,,0.489018,0.5665,rs60637,,,,,,chr12,52200742,52200742,C,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1783Pro/c.5349C>A|1939|SCN8A|protein_coding|CODING|NM_001177984.2|26|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1824Pro/c.5472C>A|1980|SCN8A|protein_coding|CODING|NM_014191.3|27|1)","H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,RCV000118287.2,,0.3006,0.7464,0.7276,0.61,0.33,0.75,,,,,,,,,,,,,,,,
missense_variant,FIGNL2,MISSENSE,NM_001013690.4:p.Thr366Pro/c.1096A>C,Act/Cct,MODERATE,,0.840256,0.9742,rs303819,,,,,,chr12,52215102,52215102,T,G,hom,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr366Pro/c.1096A>C|653|FIGNL2|protein_coding|CODING|NM_001013690.4|2|1),"CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,H1ESC:H4K5ac,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,CD4:H2BK120ac,HSMM:H3K4me3,IMR90:H3K4me3",,,,0.6626,0.9049,0.8748,0.89,0.87,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD33,SILENT,NM_182608.3:p.Arg30Arg/c.90C>T,cgC/cgT,LOW,COSM3753323(1),0.331669,0.4117,rs697634,,,,,,chr12,52282060,52282060,C,T,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg30Arg/c.90C>T|452|ANKRD33|protein_coding|CODING|NM_182608.3|1|1),5_prime_UTR_variant(MODIFIER||800|c.-312C>T|272|ANKRD33|protein_coding|CODING|NM_001130015.1|1|1)","K562:PolII,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4489,0.451,0.2952,0.26,0.15,0.31,,,,,,,,,,,,,,,,
missense_variant,ANKRD33,MISSENSE,NM_182608.3:p.Tyr140Phe/c.419A>T,tAc/tTc,MODERATE,COSM3753325(1),0.323882,0.4216,rs386421337,0.51(T),"0.038,0.829(B,P)",0.92(L),-0.9727(T),,chr12,52282873,52282873,A,T,hom,"missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr140Phe/c.419A>T|452|ANKRD33|protein_coding|CODING|NM_182608.3|3|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr5Phe/c.14A>T|272|ANKRD33|protein_coding|CODING|NM_001130015.1|3|1)","H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4479,0.4135,0.3062,0.26,0.14,0.33,,0.286846(N),1.000(P),"-0.07,-0.07(T,T)",0.0000(T),0.192,0.441362,3.98,1.46,0.379000,0.181000,-0.226000,0.049000,0.930000,0.005000,6.7499
missense_variant,ANKRD33,MISSENSE,NM_182608.3:p.Gln257Arg/c.770A>G,cAg/cGg,MODERATE,COSM3753331(3),0.148962,0.2063,rs34494292,0.55(T),"0.024,0.09,0.003(B,B,B)",1.5(L),-0.9767(T),,chr12,52284500,52284500,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln132Arg/c.395A>G|272|ANKRD33|protein_coding|CODING|NM_001130015.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln257Arg/c.770A>G|452|ANKRD33|protein_coding|CODING|NM_182608.3|5|1)",HepG2:H3K27me3,,,,0.2147,0.134,0.1918,0.16,0.06,0.20,,0.685403(N),1.000(P),"2.09,1.95,2.4(T,T,T)",0.0000(T),0.064,1.588295,4.7,-0.552,0.459000,0.026000,0.671000,0.720000,0.201000,0.000000,3.2663
missense_variant,ANKRD33,MISSENSE,NM_001130015.1:p.Val261Ile/c.781G>A,Gta/Ata,MODERATE,,0.146965,0.2004,rs3180417,0.08(T),0.007(B),,-0.9648(T),,chr12,52285086,52285086,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val261Ile/c.781G>A|272|ANKRD33|protein_coding|CODING|NM_001130015.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys452Lys/c.1356G>A|452|ANKRD33|protein_coding|CODING|NM_182608.3|5|1)",HepG2:H3K27me3,,,,0.2106,0.134,0.1918,0.16,0.06,0.20,,,1.000(P),"1.88,2.32(T,T)",0.0000(T),.,3.245934,4.32,-6.62,0.313000,-1.026000,-1.473000,0.743000,0.000000,0.000000,7.0794
synonymous_variant,KRT80,SILENT,NM_001081492.1:p.Pro418Pro/c.1254C>A,ccC/ccA,LOW,COSM4147191(1),0.759784,0.8889,rs3741737,,,,,,chr12,52565322,52565322,G,T,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro418Pro/c.1254C>A|422|KRT80|protein_coding|CODING|NM_001081492.1|9|1),intron_variant(MODIFIER|||c.1235-16C>A|452|KRT80|protein_coding|CODING|NM_182507.2|8|1)","HSMM:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.6554,0.8112,0.831,0.79,0.71,0.83,,,,,,,,,,,,,,,,
synonymous_variant,KRT80,SILENT,NM_182507.2:p.Asn371Asn/c.1113C>T,aaC/aaT,LOW,COSM3765655(2),0.331669,0.2907,rs3741736,,,,,,chr12,52566047,52566047,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn371Asn/c.1113C>T|422|KRT80|protein_coding|CODING|NM_001081492.1|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn371Asn/c.1113C>T|452|KRT80|protein_coding|CODING|NM_182507.2|7|1)","NHEK:CTCF,HeLa-S3:DNase1,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HSMM:DNase1,HMEC:CTCF,K562:H3K27me3,HepG2:CTCF,HeLa-S3:H3K36me3,HepG2:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.3384,0.2968,0.4513,0.36,0.30,0.39,,,,,,,,,,,,,,,,
missense_variant,C12orf80,MISSENSE,NM_001242696.1:p.Arg38Gln/c.113G>A,cGg/cAg,MODERATE,,0.909545,0.9901,rs1902767,,,,,,chr12,52602013,52602013,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg38Gln/c.113G>A|143|C12orf80|protein_coding|CODING|NM_001242696.1|2|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,HeLa-S3:Max,NHEK:H3K4me1,GM12878:H3K36me3,NH-A:DNase1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ap2gamma,HeLa-S3:Cfos,HepG2:H3K27me3,NHEK:DNase1",,,,0.8804,0.8703,0.7773,,,,,,,,,,,,,,,,,,,
synonymous_variant,KRT7,SILENT,NM_005556.3:p.Ser45Ser/c.135A>G,tcA/tcG,LOW,COSM3749213(3),0.888778,0.9048,rs7308888,,,,,,chr12,52627215,52627215,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser45Ser/c.135A>G|469|KRT7|protein_coding|CODING|NM_005556.3|1|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HMEC:H3K9ac,GM06990:H3K27me3,GM12878:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8528,0.8473,0.8191,0.86,0.95,0.82,,,,,,,,,,,,,,,,
missense_variant,KRT7,MISSENSE,NM_005556.3:p.His186Arg/c.557A>G,cAc/cGc,MODERATE,,0.872005,0.9028,rs6580870,0.67(T),"0.001,0.001(B,B)",-2.19(N),-0.9098(T),,chr12,52631313,52631313,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His186Arg/c.557A>G|469|KRT7|protein_coding|CODING|NM_005556.3|3|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K36me3",,,,0.8538,0.8386,0.8191,0.84,0.90,0.80,,0.176927(N),1.000(P),-1.29(T),0.0000(T),0.23,-0.472602,4.87,-2.67,-1.050000,-0.702000,-0.038000,0.057000,0.002000,0.001000,14.85
synonymous_variant,KRT7,SILENT,NM_005556.3:p.Ala266Ala/c.798G>A,gcG/gcA,LOW,COSM147517(1),0.423722,0.3145,rs999665,,,,,,chr12,52635360,52635360,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala266Ala/c.798G>A|469|KRT7|protein_coding|CODING|NM_005556.3|5|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:DNase1,HeLa-S3:PolII,HeLa-S3:H3K36me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.4806,0.4366,0.5378,0.51,0.42,0.55,,,,,,,,,,,,,,,,
missense_variant,KRT7,MISSENSE,NM_005556.3:p.Gly364Ala/c.1091G>C,gGc/gCc,MODERATE,,0.892173,0.9067,rs2608009,1(T),0.0(B),-3.39(N),-0.9147(T),,chr12,52639302,52639302,G,C,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly364Ala/c.1091G>C|469|KRT7|protein_coding|CODING|NM_005556.3|7|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,GM06990:H3K4me3,K562:H3K27me3,HeLa-S3:PolII,HeLa-S3:H3K36me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.8722,0.8458,0.8171,0.85,0.94,0.80,,0.165421(N),1.000(P),-1.01(T),0.0000(T),0.043,0.197835,4.4,3.43,-0.216000,1.232000,4.688000,0.012000,0.861000,1.000000,15.0864
synonymous_variant,KRT81,SILENT,NM_002281.3:p.Ala359Ala/c.1077G>A,gcG/gcA,LOW,COSM3998832(1),0.383586,0.5377,rs4761856,,,,,,chr12,52681056,52681056,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala359Ala/c.1077G>A|505|KRT81|protein_coding|CODING|NM_002281.3|7|1),"NHEK:CTCF,HeLa-S3:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:H3K27me3,HepG2:CTCF,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.4059,0.3602,0.334,0.31,0.30,0.31,,,,,,,,,,,,,,,,
synonymous_variant,KRT81,SILENT,NM_002281.3:p.Ala351Ala/c.1053C>T,gcC/gcT,LOW,COSM3998833(1),0.294728,0.4296,rs4761784,,,,,,chr12,52681080,52681080,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala351Ala/c.1053C>T|505|KRT81|protein_coding|CODING|NM_002281.3|7|1),"NHEK:CTCF,HeLa-S3:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:H3K27me3,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.3384,0.3386,0.332,0.25,0.14,0.31,,,,,,,,,,,,,,,,
missense_variant,KRT81,MISSENSE,NM_002281.3:p.Leu248Arg/c.743T>G,cTc/cGc,MODERATE,,0.936102,0.996,rs6580873,1(T),0.0(B),,-0.9256(T),,chr12,52681925,52681925,A,C,het,missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu248Arg/c.743T>G|505|KRT81|protein_coding|CODING|NM_002281.3|5|1),"HUVEC:H3K27me3,H1ESC:DNase1,NH-A:DNase1,K562:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1",,,,0.9008,0.9207,0.8519,0.88,0.97,0.83,,0.002409(N),0.003(P),-1.05(T),0.0000(T),0.054,-2.118797,4.59,2.73,-0.224000,0.406000,-0.476000,0.205000,0.330000,0.000000,3.3763
missense_variant,KRT81,MISSENSE,NM_002281.3:p.Gly52Arg/c.154G>C,Gga/Cga,MODERATE,COSM4147198(1),0.278754,0.4216,rs2071588,0.09(T),0.928(D),2.76(M),-1.3784(T),,chr12,52685096,52685096,C,G,het,missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly52Arg/c.154G>C|505|KRT81|protein_coding|CODING|NM_002281.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3415,0.3199,0.328,,,,,0.003435(U),0.000(P),-3.22(D),0.0000(T),0.464,3.167024,5.17,5.17,0.549000,2.399000,4.600000,0.100000,0.966000,0.737000,9.9564
synonymous_variant,KRT86,SILENT,NM_002284.3:p.Ala334Ala/c.1002T>C,gcT/gcC,LOW,COSM3998834(1),0.455272,0.4921,rs2032360,,,,,,chr12,52699548,52699548,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala334Ala/c.1002T>C|486|KRT86|protein_coding|CODING|NM_002284.3|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.363,0.3357,0.339,,,,,,,,,,,,,,,,,,,
missense_variant,KRT83,MISSENSE,NM_002282.3:p.His493Tyr/c.1477C>T,Cat/Tat,MODERATE,COSM431333(1),0.736222,0.6776,rs2857671,1(T),0.0(B),0(N),-0.9410(T),,chr12,52708420,52708420,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His493Tyr/c.1477C>T|493|KRT83|protein_coding|CODING|NM_002282.3|9|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6881,0.5908,0.6412,0.75,0.92,0.66,,0.271655(N),1.000(P),-1.39(T),0.0000(T),0.063,0.596344,4.21,4.21,-0.817000,0.590000,0.466000,0.011000,0.712000,0.000000,6.7862
synonymous_variant,KRT83,SILENT,NM_002282.3:p.Asp444Asp/c.1332T>C,gaT/gaC,LOW,COSM3931660(2),0.711462,0.6776,rs2857670,,,,,,chr12,52708565,52708565,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp444Asp/c.1332T>C|493|KRT83|protein_coding|CODING|NM_002282.3|9|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6892,0.585,0.6441,0.73,0.86,0.66,,,,,,,,,,,,,,,,
synonymous_variant,KRT83,SILENT,NM_002282.3:p.Asn186Asn/c.558C>T,aaC/aaT,LOW,COSM4147202(1),0.36262,0.506,rs3741715,,,,,,chr12,52712975,52712975,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn186Asn/c.558C>T|493|KRT83|protein_coding|CODING|NM_002282.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HeLa-S3:CTCF,HMEC:CTCF,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000056955.1,,0.3108,0.3386,0.2823,0.32,0.36,0.30,,,,,,,,,,,,,,,,
missense_variant,KRT84,MISSENSE,NM_033045.3:p.Cys446Arg/c.1336T>C,Tgc/Cgc,MODERATE,,0.826478,0.746,rs951773,1(T),0.0(B),-2.395(N),-0.9555(T),,chr12,52774235,52774235,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys446Arg/c.1336T>C|600|KRT84|protein_coding|CODING|NM_033045.3|7|1),"NHEK:CTCF,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HSMM:DNase1,HMEC:CTCF,K562:H3K27me3,NH-A:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.8221,0.8545,0.7346,0.81,0.93,0.76,,0.056566(N),0.026(P),-0.78(T),0.0000(T),0.042,-0.131357,4.94,4.04,-0.186000,0.674000,1.129000,0.940000,0.994000,0.788000,7.8208
missense_variant,KRT82,MISSENSE,NM_033033.3:p.Thr458Met/c.1373C>T,aCg/aTg,MODERATE,COSM3753339(1),0.338658,0.0645,rs2658658,0.01(D),0.854(P),0(N),-0.9726(T),,chr12,52788928,52788928,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr458Met/c.1373C>T|513|KRT82|protein_coding|CODING|NM_033033.3|9|1),"GM06990:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.4622,0.3746,0.4702,0.44,0.36,0.48,,0.021583(N),1.000(P),-1.64(D),0.0000(T),0.113,1.344757,4.73,3.84,-0.215000,1.137000,2.017000,0.028000,0.696000,0.030000,7.9321
missense_variant,KRT75,MISSENSE,NM_004693.2:p.Gly513Asp/c.1538G>A,gGt/gAt,MODERATE,,0.00299521,0,rs61735042,0.2(T),0.29(B),3.02(M),0.4798(D),,chr12,52818419,52818419,C,T,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly513Asp/c.1538G>A|551|KRT75|protein_coding|CODING|NM_004693.2|9|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.002,0.0043,0.006,0.01,0.00,0.02,,0.020337(N),0.927(D),-4.08(D),0.7424(D),0.229,2.549448,4.74,3.85,0.491000,1.217000,2.509000,0.913000,0.601000,0.913000,8.5372
missense_variant,KRT6C,MISSENSE,NM_173086.4:p.Arg182Gln/c.545G>A,cGg/cAg,MODERATE,,0.400559,0.506,rs11608915,0.03(D),0.899(P),2.93(M),-1.2726(T),,chr12,52866060,52866060,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg182Gln/c.545G>A|564|KRT6C|protein_coding|CODING|NM_173086.4|2|1),"GM06990:H3K27me3,HMEC:H3K36me3,NH-A:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.546,0.3271,0.4682,0.41,0.25,0.49,,0.000035(D),0.002(P),-2.97(D),0.0000(T),0.273,3.412329,3.03,2.12,0.407000,0.814000,5.704000,0.495000,0.924000,1.000000,11.1947
missense_variant,KRT5,MISSENSE,NM_000424.3:p.Gly138Glu/c.413G>A,gGa/gAa,MODERATE,COSM3753352(1),0.0265575,0,rs386517357,0.01(D),0.503(P),3.09(M),0.0020(D),,chr12,52913668,52913668,C,T,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly138Glu/c.413G>A|590|KRT5|protein_coding|CODING|NM_000424.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K27me3,NHEK:PolII,GM12878:H3K36me3,HMEC:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,RCV000056586.1,,0.0481,0.0173,0.0676,0.05,0.02,0.07,,0.000026(D),0.999(D),"-3.31,-1.02,-3.62(D,T,D)",0.3908(T),0.521,3.255260,5.45,5.45,0.655000,2.559000,.,0.869000,1.000000,.,19.2864
synonymous_variant,KRT71,SILENT,NM_033448.2:p.Leu508Leu/c.1524A>G,ctA/ctG,LOW,,0.327276,0.5,rs2292507,,,,,,chr12,52938364,52938364,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu508Leu/c.1524A>G|523|KRT71|protein_coding|CODING|NM_033448.2|9|1),"NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,HSMM:CTCF,HMEC:CTCF,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2669,0.4712,0.507,0.37,0.10,0.51,,,,,,,,,,,,,,,,
missense_variant,KRT71,MISSENSE,NM_033448.2:p.Val464Gly/c.1391T>G,gTc/gGc,MODERATE,,0.327276,0.5,rs10783518,0.41(T),0.0(B),-1.04(N),-0.9231(T),,chr12,52938497,52938497,A,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val464Gly/c.1391T>G|523|KRT71|protein_coding|CODING|NM_033448.2|9|1),"NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,HSMM:CTCF,HMEC:CTCF,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.2669,0.4712,0.507,0.35,0.10,0.48,,0.018618(N),0.943(P),-1.41(T),0.0000(T),0.094,0.066570,3.53,2.61,-0.217000,0.136000,2.480000,0.758000,0.540000,0.171000,6.5391
missense_variant,KRT74,MISSENSE,NM_175053.3:p.Glu271Asp/c.813A>C,gaA/gaC,MODERATE,COSM4147222(1),0.807308,0.7173,rs670741,0.08(T),0.007(B),2.98(M),-0.9525(T),,chr12,52965173,52965173,T,G,hom,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu271Asp/c.813A>C|529|KRT74|protein_coding|CODING|NM_175053.3|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.819,0.683,0.7336,0.82,0.95,0.75,,0.002138(N),1.000(P),"-3.0,-3.0(D,D)",0.0000(T),0.076,2.258200,4.73,0.186,-0.738000,-0.023000,-1.376000,0.984000,0.997000,0.001000,1.6831
synonymous_variant,KRT74,SILENT,NM_175053.3:p.Thr238Thr/c.714G>A,acG/acA,LOW,COSM4147223(1),0.891573,0.995,rs673449,,,,,,chr12,52965761,52965761,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr238Thr/c.714G>A|529|KRT74|protein_coding|CODING|NM_175053.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8313,0.8674,0.7346,0.82,0.96,0.75,,,,,,,,,,,,,,,,
synonymous_variant,KRT74,SILENT,NM_175053.3:p.Glu231Glu/c.693A>G,gaA/gaG,LOW,COSM4147224(1),0.807109,0.7173,rs673476,,,,,,chr12,52965782,52965782,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu231Glu/c.693A>G|529|KRT74|protein_coding|CODING|NM_175053.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.82,0.683,0.7336,0.82,0.95,0.75,,,,,,,,,,,,,,,,
missense_variant,KRT74,MISSENSE,NM_175053.3:p.Leu178Gln/c.533T>A,cTg/cAg,MODERATE,,0.221246,0.376,rs11170176,1(T),0.517(P),-2.09(N),-0.9026(T),,chr12,52966390,52966390,A,T,het,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu178Gln/c.533T>A|529|KRT74|protein_coding|CODING|NM_175053.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.18,0.098,0.1193,0.18,0.27,0.13,,0.176247(N),0.155(P),"-2.26,-2.26(D,D)",0.0000(T),0.124,2.865720,4.71,4.71,0.528000,2.066000,2.808000,0.981000,1.000000,0.974000,5.812
missense_variant,KRT72,MISSENSE,NM_001146225.1:p.Arg428Leu/c.1283G>T,cGc/cTc,MODERATE,,0.178115,0.0655,rs11170183,0(D),0.076(B),4.76(H),-0.9027(T),,chr12,52981442,52981442,C,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg428Leu/c.1283G>T|511|KRT72|protein_coding|CODING|NM_001146225.1|7|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg386Leu/c.1157G>T|469|KRT72|protein_coding|CODING|NM_001146226.1|6|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg428Leu/c.1283G>T|511|KRT72|protein_coding|CODING|NM_080747.2|7|1)","GM06990:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:DNase1,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3569,0.1527,0.2416,0.22,0.14,0.26,,0.000445(D),0.088(P),"-3.51,-3.51,-3.51,-3.51(D,D,D,D)",0.0013(T),0.687,3.539200,4.92,4.03,0.650000,1.383000,4.630000,0.987000,0.999000,1.000000,14.1097
synonymous_variant,KRT72,SILENT,NM_001146225.1:p.Ile306Ile/c.918T>C,atT/atC,LOW,,0.372404,0.5655,rs12824366,,,,,,chr12,52985293,52985293,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile306Ile/c.918T>C|511|KRT72|protein_coding|CODING|NM_001146225.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile306Ile/c.918T>C|469|KRT72|protein_coding|CODING|NM_001146226.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile306Ile/c.918T>C|511|KRT72|protein_coding|CODING|NM_080747.2|5|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5204,0.2406,0.3638,0.34,0.26,0.38,,,,,,,,,,,,,,,,
missense_variant,KRT72,MISSENSE,NM_001146225.1:p.Tyr264Cys/c.791A>G,tAt/tGt,MODERATE,,0.372804,0.5675,rs12833456,0.01(D),0.098(B),3.635(H),-1.0348(T),,chr12,52986187,52986187,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr264Cys/c.791A>G|511|KRT72|protein_coding|CODING|NM_001146225.1|4|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr264Cys/c.791A>G|469|KRT72|protein_coding|CODING|NM_001146226.1|4|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr264Cys/c.791A>G|511|KRT72|protein_coding|CODING|NM_080747.2|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5204,0.2406,0.3638,0.34,0.26,0.38,,0.119562(N),0.909(P),"-2.64,-2.64,-2.64,-2.64(D,D,D,D)",0.0000(T),0.435,2.243523,4.85,3.67,0.482000,0.914000,0.153000,0.908000,0.979000,0.053000,11.0777
missense_variant,KRT72,MISSENSE,NM_001146225.1:p.Asn171Asp/c.511A>G,Aac/Gac,MODERATE,COSM3998847(1),0.372204,0.5655,rs11170187,,,2.725(M),-0.9652(T),,chr12,52992812,52992812,T,C,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn171Asp/c.511A>G|511|KRT72|protein_coding|CODING|NM_001146225.1|2|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn171Asp/c.511A>G|469|KRT72|protein_coding|CODING|NM_001146226.1|2|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn171Asp/c.511A>G|511|KRT72|protein_coding|CODING|NM_080747.2|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5204,0.2406,0.3638,0.34,0.26,0.38,,,0.000(P),,0.0000(T),.,2.978363,5.25,4.08,0.459000,1.065000,2.780000,0.982000,0.702000,0.988000,8.6797
synonymous_variant,KRT2,SILENT,NM_000423.2:p.Gly50Gly/c.150C>T,ggC/ggT,LOW,COSM3753359(2),0.278155,0.0437,rs11835758,,,,,,chr12,53045777,53045777,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly50Gly/c.150C>T|639|KRT2|protein_coding|CODING|NM_000423.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4376,0.451,0.4423,0.36,0.17,0.46,,,,,,,,,,,,,,,,
missense_variant,KRT1,MISSENSE,NM_006121.3:p.Lys633Arg/c.1898A>G,aAg/aGg,MODERATE,COSM3753360(2),0.275559,0.5784,rs14024,1(T),0.078(B),0(N),-0.9439(T),,chr12,53069014,53069014,T,C,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys633Arg/c.1898A>G|644|KRT1|protein_coding|CODING|NM_006121.3|9|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2689,0.2478,0.331,0.22,0.07,0.30,,,0.984(P),-1.78(D),0.0000(T),0.094,0.547217,3.52,2.33,0.260000,0.533000,1.269000,0.469000,0.999000,0.629000,4.7427
synonymous_variant,KRT1,SILENT,NM_006121.3:p.Thr471Thr/c.1413A>C,acA/acC,LOW,,0.801118,0.8284,rs698170,,,,,,chr12,53070121,53070121,T,G,hom,synonymous_variant(LOW|SILENT|acA/acC|p.Thr471Thr/c.1413A>C|644|KRT1|protein_coding|CODING|NM_006121.3|7|1),"CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000057058.1,,0.8231,0.7219,0.8221,0.81,0.79,0.82,,,,,,,,,,,,,,,,
synonymous_variant,KRT1,SILENT,NM_006121.3:p.Arg463Arg/c.1389C>T,cgC/cgT,LOW,,0.425519,0.2411,rs936958,,,,,,chr12,53070145,53070145,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg463Arg/c.1389C>T|644|KRT1|protein_coding|CODING|NM_006121.3|7|1),"CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000057057.1,,0.4836,0.4424,0.4523,0.47,0.46,0.47,,,,,,,,,,,,,,,,
missense_variant,KRT77,MISSENSE,NM_175078.2:p.Arg533Gly/c.1597A>G,Agg/Ggg,MODERATE,COSM3753363(2),0.933307,1,rs636127,0.63(T),0.0(B),-0.55(N),-1.0085(T),,chr12,53085089,53085089,T,C,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg533Gly/c.1597A>G|578|KRT77|protein_coding|CODING|NM_175078.2|9|1),"CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,CD4:H2BK5ac,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9928,0.9611,0.9732,0.92,0.83,0.96,,,1.000(P),"3.27,-1.51(T,D)",0.0000(T),0.054,1.081961,3.81,-1.86,-0.215000,-0.940000,-0.454000,0.003000,0.000000,0.000000,3.2562
missense_variant,KRT77,MISSENSE,NM_175078.2:p.Thr367Met/c.1100C>T,aCg/aTg,MODERATE,COSM3736063(1),0.379393,0.245,rs3782489,0.01(D),0.964(D),3.3(M),-1.2454(T),,chr12,53086645,53086645,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr367Met/c.1100C>T|578|KRT77|protein_coding|CODING|NM_175078.2|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4479,0.3703,0.3499,0.39,0.42,0.37,,,1.000(P),"-2.48,-1.64(D,D)",0.0000(T),0.059,3.073422,3.44,1.41,0.456000,0.371000,1.188000,0.359000,0.000000,0.002000,8.8356
missense_variant,KRT77,MISSENSE,NM_175078.2:p.Asp336Asn/c.1006G>A,Gat/Aat,MODERATE,COSM3753364(1),0.318291,0.5813,rs10783528,0.02(D),0.039(B),0.455(N),-0.9177(T),,chr12,53088484,53088484,C,T,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp336Asn/c.1006G>A|578|KRT77|protein_coding|CODING|NM_175078.2|5|1),"GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2791,0.281,0.3559,0.29,0.20,0.34,,,1.000(P),"-1.21,-1.07(T,T)",0.0000(T),0.008,1.275491,4.94,0.542,0.555000,0.188000,-0.031000,0.187000,0.004000,0.000000,8.2491
synonymous_variant,KRT77,SILENT,NM_175078.2:p.Arg261Arg/c.783G>A,agG/agA,LOW,COSM147528(1),0.406949,0.25,rs7138818,,,,,,chr12,53090190,53090190,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg261Arg/c.783G>A|578|KRT77|protein_coding|CODING|NM_175078.2|3|1),"GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4693,0.4092,0.4026,0.43,0.45,0.42,,,,,,,,,,,,,,,,
missense_variant,KRT77,MISSENSE,NM_175078.2:p.Gly220Cys/c.658G>T,Ggt/Tgt,MODERATE,COSM1362578(3),0.40655,0.246,rs1567759,0.05(D),0.976(D),1.39(L),-1.0483(T),,chr12,53091566,53091566,C,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Tgt|p.Gly220Cys/c.658G>T|578|KRT77|protein_coding|CODING|NM_175078.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.4121,0.4026,0.43,0.45,0.42,,,0.967(P),-2.43(D),0.0000(T),0.123,2.350744,4.4,-2.05,-1.240000,-0.220000,-1.970000,0.000000,0.010000,0.000000,7.0738
synonymous_variant,KRT77,SILENT,NM_175078.2:p.Thr102Thr/c.306C>T,acC/acT,LOW,,0.973442,1,rs1625862,,,,,,chr12,53096913,53096913,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr102Thr/c.306C>T|578|KRT77|protein_coding|CODING|NM_175078.2|1|1),"GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,0.999,0.97,0.90,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KRT76,SILENT,NM_015848.4:p.Ser547Ser/c.1641T>C,agT/agC,LOW,,0.779752,0.9028,rs1464423,,,,,,chr12,53162773,53162773,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser547Ser/c.1641T>C|638|KRT76|protein_coding|CODING|NM_015848.4|9|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6759,0.8804,0.8926,0.80,0.65,0.88,,,,,,,,,,,,,,,,
synonymous_variant,KRT76,SILENT,NM_015848.4:p.Asn473Asn/c.1419C>T,aaC/aaT,LOW,COSM1179680(2),0.417133,0.3919,rs7313832,,,,,,chr12,53164848,53164848,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn473Asn/c.1419C>T|638|KRT76|protein_coding|CODING|NM_015848.4|7|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3661,0.3991,0.5855,0.49,0.37,0.56,,,,,,,,,,,,,,,,
missense_variant,KRT76,MISSENSE,NM_015848.4:p.Ala359Thr/c.1075G>A,Gcc/Acc,MODERATE,COSM1179681(3),0.600839,0.5516,rs6580904,0.03(D),0.771(P),2.05(M),-0.9253(T),,chr12,53165940,53165940,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala359Thr/c.1075G>A|638|KRT76|protein_coding|CODING|NM_015848.4|5|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5327,0.6801,0.8499,0.71,0.47,0.83,,0.000486(D),0.012(P),-2.25(D),0.0000(T),0.193,2.370905,4.42,4.42,0.462000,2.398000,0.647000,0.162000,0.890000,0.011000,14.7034
synonymous_variant,KRT76,SILENT,NM_015848.4:p.Ser25Ser/c.75C>T,tcC/tcT,LOW,,0.0469249,0.002,rs11170272,,,,,,chr12,53171001,53171001,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser25Ser/c.75C>T|638|KRT76|protein_coding|CODING|NM_015848.4|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0665,0.0562,0.1123,0.09,0.02,0.13,,,,,,,,,,,,,,,,
missense_variant,KRT3,MISSENSE,NM_057088.2:p.Arg375Gly/c.1123C>G,Cgt/Ggt,MODERATE,,0.377796,0.1369,rs3887954,0(D),0.944(D),3.385(M),-0.9405(T),,chr12,53186088,53186088,G,C,hom,missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg375Gly/c.1123C>G|628|KRT3|protein_coding|CODING|NM_057088.2|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2699,0.4539,0.672,0.58,0.43,0.66,,0.174598(N),1.000(P),"-3.21,-3.21(D,D)",0.0000(T),0.169,1.612222,4.41,0.697,0.491000,0.289000,0.076000,0.032000,0.870000,0.000000,14.7673
synonymous_variant,KRT3,SILENT,NM_057088.2:p.Arg363Arg/c.1089C>T,cgC/cgT,LOW,,0.78774,0.9147,rs4432093,,,,,,chr12,53186122,53186122,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg363Arg/c.1089C>T|628|KRT3|protein_coding|CODING|NM_057088.2|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6063,0.7882,0.8181,0.81,0.81,0.81,,,,,,,,,,,,,,,,
missense_variant,KRT3,MISSENSE,NM_057088.2:p.Gly44Ala/c.131G>C,gGc/gCc,MODERATE,COSM3753365(3),0.138379,0.002,rs28721426,0.21(T),0.89(P),0.86(L),-1.3191(T),,chr12,53189696,53189696,C,G,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly44Ala/c.131G>C|628|KRT3|protein_coding|CODING|NM_057088.2|1|1),"GM06990:H3K27me3,HMEC:H3K27me3,HepG2:H3K27me3",,,,0.0583,0.1167,0.163,0.21,0.27,0.18,,0.000218(D),0.282(P),"-3.28,-3.28(D,D)",0.0001(T),0.193,0.872561,4.94,4.94,0.555000,2.460000,4.308000,0.020000,0.381000,0.699000,16.0488
synonymous_variant,KRT4,SILENT,NM_002272.3:p.Ser340Ser/c.1020G>C,tcG/tcC,LOW,,0.0515176,0.001,rs7956809,,,,,,chr12,53202183,53202183,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser340Ser/c.1020G>C|520|KRT4|protein_coding|CODING|NM_002272.3|6|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0971,0.0533,0.1123,0.09,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,KRT4,MISSENSE,NM_002272.3:p.Gln156Arg/c.467A>G,cAg/cGg,MODERATE,,0.269968,0.1052,rs7959052,1(T),0.0(B),-2.685(N),-0.9306(T),,chr12,53205757,53205757,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln156Arg/c.467A>G|520|KRT4|protein_coding|CODING|NM_002272.3|2|1),"GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1626,0.1254,0.1491,0.30,0.55,0.18,,0.000566(N),1.000(P),"-1.82,-1.82,-1.82(D,D,D)",0.0000(T),0.156,1.053361,4.41,4.41,-0.215000,1.477000,3.970000,0.981000,1.000000,0.998000,13.6387
missense_variant,KRT4,MISSENSE,NM_002272.3:p.Ala72Val/c.215C>T,gCc/gTc,MODERATE,,0.221645,0.1091,rs2638525,0.2(T),,1.345(L),-1.0972(T),,chr12,53207628,53207628,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala72Val/c.215C>T|520|KRT4|protein_coding|CODING|NM_002272.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1646,0.1225,0.1481,0.24,0.39,0.17,,0.040380(N),1.000(P),"-2.43,2.13,-2.27(D,T,D)",0.0000(T),0.2,-0.253445,5.14,1.03,0.585000,0.072000,-0.114000,0.484000,0.025000,0.000000,7.4829
synonymous_variant,KRT79,SILENT,NM_175834.2:p.Leu372Leu/c.1116G>T,ctG/ctT,LOW,,0.480631,0.5099,rs10876354,,,,,,chr12,53217701,53217701,C,A,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu372Leu/c.1116G>T|535|KRT79|protein_coding|CODING|NM_175834.2|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6708,0.5562,0.5099,0.44,0.31,0.51,,,,,,,,,,,,,,,,
missense_variant,KRT79,MISSENSE,NM_175834.2:p.Leu81Ser/c.242T>C,tTg/tCg,MODERATE,COSM4147230(3),0.739617,0.7966,rs2638497,0.42(T),0.0(B),-0.805(N),-1.0240(T),,chr12,53227803,53227803,A,G,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu81Ser/c.242T>C|535|KRT79|protein_coding|CODING|NM_175834.2|1|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7761,0.6138,0.6044,0.65,0.80,0.58,,0.966946(N),1.000(P),2.21(T),0.0000(T),0.058,-1.278312,4.28,3.39,-0.186000,0.754000,0.450000,0.007000,0.002000,0.002000,8.5716
missense_variant,KRT78,MISSENSE,NM_173352.3:p.Leu92Pro/c.275T>C,cTg/cCg,MODERATE,COSM3736064(2),0.515375,0.5188,rs2013335,0(D),0.998(D),3.45(M),-0.9721(T),,chr12,53242440,53242440,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu92Pro/c.275T>C|520|KRT78|protein_coding|CODING|NM_173352.3|1|1),upstream_gene_variant(MODIFIER||373||410|KRT78|protein_coding|CODING|NM_001300814.1||1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7168,0.5519,0.5785,0.48,0.34,0.55,,,0.000(P),-1.2(T),0.0000(T),0.42,3.942107,5.18,5.18,0.402000,2.081000,7.510000,0.939000,0.944000,1.000000,14.1531
synonymous_variant,KRT8,SILENT,NM_001256282.1:p.Leu255Leu/c.765A>G,ctA/ctG,LOW,COSM3753369(2),0.567492,0.6042,rs386553873,,,,,,chr12,53294381,53294381,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu255Leu/c.765A>G|511|KRT8|protein_coding|CODING|NM_001256282.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu227Leu/c.681A>G|483|KRT8|protein_coding|CODING|NM_001256293.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu227Leu/c.681A>G|483|KRT8|protein_coding|CODING|NM_002273.3|4|1),non_coding_exon_variant(MODIFIER|||n.1138A>G||KRT8||CODING|NR_045962.1|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000056941.1,,0.7587,0.6182,0.5318,0.49,0.44,0.51,,,,,,,,,,,,,,,,
synonymous_variant,KRT8,SILENT,NM_001256282.1:p.Ser27Ser/c.81T>C,tcT/tcC,LOW,,0.311701,0.1409,rs1065306,,,,,,chr12,53298769,53298769,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser27Ser/c.81T>C|511|KRT8|protein_coding|CODING|NM_001256282.1|2|1),5_prime_UTR_variant(MODIFIER||4|c.-4T>C|483|KRT8|protein_coding|CODING|NM_001256293.1|2|1),5_prime_UTR_variant(MODIFIER||4|c.-4T>C|483|KRT8|protein_coding|CODING|NM_002273.3|1|1),non_coding_exon_variant(MODIFIER|||n.454T>C||KRT8||CODING|NR_045962.1|2|1)","H1ESC:PolII,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,HeLa-S3:Max,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,HeLa-S3:TAF1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,NH-A:DNase1,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.3323,0.2608,0.4264,,,,,,,,,,,,,,,,,,,
synonymous_variant,EIF4B,SILENT,NM_001300821.1:p.Gly553Gly/c.1659C>A,ggC/ggA,LOW,,0.982228,1,rs1548204,,,,,,chr12,53433089,53433089,C,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly553Gly/c.1659C>A|616|EIF4B|protein_coding|CODING|NM_001300821.1|13|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly548Gly/c.1644C>A|611|EIF4B|protein_coding|CODING|NM_001417.5|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,0.999,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,TENC1,MISSENSE,NM_015319.2:p.Arg10Thr/c.29G>C,aGg/aCg,MODERATE,COSM1747082(2),0.373403,0.1329,rs12369033,0.1(T),0.052(B),,-0.9408(T),,chr12,53442956,53442956,G,C,hom,"missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg10Thr/c.29G>C|1419|TENC1|protein_coding|CODING|NM_015319.2|1|1),upstream_gene_variant(MODIFIER||879||1409|TENC1|protein_coding|CODING|NM_170754.2||1),intron_variant(MODIFIER|||n.298-3111C>G||LOC283335||NON_CODING|NR_033854.1|2|1),intron_variant(MODIFIER|||c.-298+2109G>C|1285|TENC1|protein_coding|CODING|NM_198316.1|1|1)","HepG2:H3K4me2,IMR90:H3K9ac,CD4:H4K91ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,NHEK:H3K36me3,H1ESC:Nrsf,HUVEC:H3K4me1,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,H1ESC:Sin3Ak20,K562:Nrsf,HepG2:H3K27me3,IMR90:H3K4me3,K562:DNase1",,,,0.4622,0.4452,0.7237,0.55,0.25,0.70,,0.471991(N),0.000(P),-3.4(D),0.0000(T),0.045,1.137981,3.64,2.75,0.561000,1.118000,1.397000,0.056000,0.996000,0.999000,6.9137
missense_variant,TENC1,MISSENSE,NM_015319.2:p.Ala680Thr/c.2038G>A,Gcc/Acc,MODERATE,,0.0273562,0.001,rs11558984,,,0.345(N),,,chr12,53453433,53453433,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala680Thr/c.2038G>A|1419|TENC1|protein_coding|CODING|NM_015319.2|18|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala670Thr/c.2008G>A|1409|TENC1|protein_coding|CODING|NM_170754.2|18|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala546Thr/c.1636G>A|1285|TENC1|protein_coding|CODING|NM_198316.1|18|1)","GM06990:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3",,,,0.0297,0.0187,0.0408,0.04,0.04,0.05,,,1.000(N),,,.,-0.069150,4.39,-8.78,-1.119000,-1.484000,-5.954000,0.013000,0.000000,0.000000,1.9095
synonymous_variant,MFSD5,SILENT,NM_001170790.1:p.Leu359Leu/c.1075T>C,Ttg/Ctg,LOW,,0.463259,0.5972,rs10876422,,,,,,chr12,53647373,53647373,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu359Leu/c.1075T>C|557|MFSD5|protein_coding|CODING|NM_001170790.1|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu252Leu/c.754T>C|450|MFSD5|protein_coding|CODING|NM_032889.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6319,0.4135,0.4632,0.41,0.30,0.47,,,,,,,,,,,,,,,,
missense_variant,ESPL1,MISSENSE,NM_012291.4:p.Ala25Asp/c.74C>A,gCc/gAc,MODERATE,,0.888379,0.999,rs6580942,1(T),0.0(B),-2.08(N),-0.9692(T),,chr12,53662624,53662624,C,A,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala25Asp/c.74C>A|2120|ESPL1|protein_coding|CODING|NM_012291.4|2|1),"NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9325,0.7954,0.673,0.77,0.94,0.68,,0.002552(N),1.000(P),"2.85,2.85(T,T)",0.0000(T),0.369,-0.653471,5.95,4.79,-0.256000,0.492000,3.448000,0.354000,0.137000,0.995000,11.3037
missense_variant,ESPL1,MISSENSE,NM_012291.4:p.Ser614Arg/c.1842C>A,agC/agA,MODERATE,COSM4147242(1),0.633187,0.8194,rs1318648,0.11(T),0.896(P),2.08(M),-1.0624(T),,chr12,53670545,53670545,C,A,het,missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser614Arg/c.1842C>A|2120|ESPL1|protein_coding|CODING|NM_012291.4|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.773,0.5994,0.6372,0.57,0.43,0.64,,0.000007(D),0.946(P),"2.53,2.53(T,T)",0.0000(T),0.388,3.223939,5.11,1.25,0.650000,0.341000,-0.161000,0.994000,0.996000,0.553000,8.7053
missense_variant,ESPL1,MISSENSE,NM_012291.4:p.Lys1435Met/c.4304A>T,aAg/aTg,MODERATE,COSM431383(1),0.877995,1,rs1110719,0.02(D),0.275(B),2.075(M),-0.9925(T),,chr12,53681883,53681883,A,T,hom,missense_variant(MODERATE|MISSENSE|aAg/aTg|p.Lys1435Met/c.4304A>T|2120|ESPL1|protein_coding|CODING|NM_012291.4|19|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,CD4:DNase1,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF,GM06990:CTCF",,,,1,0.9712,0.997,0.87,0.61,1.00,,0.286388(N),0.032(P),"2.52,2.52(T,T)",0.0000(T),0.491,2.910732,6.01,3.65,0.528000,1.067000,1.442000,0.305000,0.858000,0.783000,6.5414
synonymous_variant,ESPL1,SILENT,NM_012291.4:p.Gly1517Gly/c.4551G>A,ggG/ggA,LOW,COSM1756781(4),0.645367,0.8204,rs1110720,,,,,,chr12,53682326,53682326,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1517Gly/c.4551G>A|2120|ESPL1|protein_coding|CODING|NM_012291.4|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7689,0.6326,0.6382,0.57,0.44,0.64,,,,,,,,,,,,,,,,
missense_variant,ESPL1,MISSENSE,NM_012291.4:p.Arg1561Gln/c.4682G>A,cGg/cAg,MODERATE,COSM3998854(1),0.23762,0.1319,rs56358776,0.56(T),0.0(B),1.95(M),-0.9415(T),,chr12,53682457,53682457,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1561Gln/c.4682G>A|2120|ESPL1|protein_coding|CODING|NM_012291.4|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1339,0.3386,0.341,0.32,0.29,0.34,,0.231873(N),1.000(P),"2.76,2.76(T,T)",0.0000(T),0.037,0.372128,5.34,-7.11,-1.723000,-1.910000,-2.550000,0.002000,0.000000,0.000000,9.7156
synonymous_variant,ESPL1,SILENT,NM_012291.4:p.Cys1607Cys/c.4821C>T,tgC/tgT,LOW,,0.452676,0.3899,rs3214023,,,,,,chr12,53682986,53682986,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1607Cys/c.4821C>T|2120|ESPL1|protein_coding|CODING|NM_012291.4|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4172,0.5764,0.6064,0.53,0.38,0.61,,,,,,,,,,,,,,,,
missense_variant,ESPL1,MISSENSE,NM_012291.4:p.Arg2037His/c.6110G>A,cGt/cAt,MODERATE,,0.969449,1,rs1056685,0.53(T),0.005(B),-0.325(N),-0.9965(T),,chr12,53686703,53686703,G,A,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg2037His/c.6110G>A|2120|ESPL1|protein_coding|CODING|NM_012291.4|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.90,1.00,,0.000190(N),0.871(P),"2.75,2.75(T,T)",0.0000(T),0.081,0.224744,4.96,2.61,-1.780000,0.331000,2.278000,0.896000,0.990000,0.697000,7.8267
missense_variant,C12orf10,MISSENSE,NM_021640.3:p.Gln4Arg/c.11A>G,cAa/cGa,MODERATE,,0.949681,1,rs1534284,1(T),"0.0,0.0(B,B)",0(N),-0.9538(T),,chr12,53693532,53693532,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln4Arg/c.11A>G|376|C12orf10|protein_coding|CODING|NM_021640.3|1|1),downstream_gene_variant(MODIFIER||298||154|PFDN5|protein_coding|CODING|NM_002624.3||1),downstream_gene_variant(MODIFIER||298||109|PFDN5|protein_coding|CODING|NM_145897.2||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:Gabp,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:SP1,NH-A:H3K27ac,HeLa-S3:Tr4,IMR90:H3K36me3,HMEC:CTCF,HUVEC:Cmyc,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:HNF4A,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HUVEC:FAIRE,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HUVEC:H3K4me1,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:Sin3Ak20,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Yy1,GM12878:PU1,GM12878:Tr4,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,H1ESC:CTCF,IMR90:H4K8ac",,,,1,0.9914,1,0.94,0.82,1.00,,0.110630(N),0.997(P),1.03(T),0.0000(T),0.008,-0.912663,4.13,-0.122,-0.642000,-0.053000,-0.784000,0.003000,0.000000,0.000000,3.3889
missense_variant,C12orf10,MISSENSE,NM_021640.3:p.Gln4His/c.12A>C,caA/caC,MODERATE,,0.949681,1,rs1534283,0.17(T),"0.0,0.0(B,B)",0(N),-1.0370(T),,chr12,53693533,53693533,A,C,hom,"missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln4His/c.12A>C|376|C12orf10|protein_coding|CODING|NM_021640.3|1|1),downstream_gene_variant(MODIFIER||299||154|PFDN5|protein_coding|CODING|NM_002624.3||1),downstream_gene_variant(MODIFIER||299||109|PFDN5|protein_coding|CODING|NM_145897.2||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:Gabp,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:SP1,NH-A:H3K27ac,HeLa-S3:Tr4,IMR90:H3K36me3,HMEC:CTCF,HUVEC:Cmyc,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:HNF4A,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HUVEC:FAIRE,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HUVEC:H3K4me1,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:Sin3Ak20,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Yy1,GM12878:PU1,GM12878:Tr4,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,H1ESC:CTCF,IMR90:H4K8ac",,,,1,0.9914,1,0.94,0.82,1.00,,0.110630(N),0.997(P),0.95(T),0.0000(T),0.011,1.436401,4.13,-4.55,-0.648000,-1.642000,-1.604000,0.003000,0.000000,0.000000,3.1421
missense_variant,C12orf10,MISSENSE,NM_021640.3:p.Thr349Ile/c.1046C>T,aCt/aTt,MODERATE,,0.96885,1,rs1534282,1(T),"0.001,0.001(B,B)",-1.04(N),-0.9483(T),,chr12,53700848,53700848,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr349Ile/c.1046C>T|376|C12orf10|protein_coding|CODING|NM_021640.3|7|1),downstream_gene_variant(MODIFIER||392||513|AAAS|protein_coding|CODING|NM_001173466.1||1),downstream_gene_variant(MODIFIER||392||546|AAAS|protein_coding|CODING|NM_015665.5||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,1,0.96,0.90,1.00,,0.000000(N),1.000(P),"1.48,1.48,1.48(T,T,T)",0.0000(T),0.599,0.575100,5.03,5.03,-0.254000,1.054000,4.733000,0.894000,1.000000,1.000000,9.3231
missense_variant,C12orf10,MISSENSE,NM_021640.3:p.His353Arg/c.1058A>G,cAc/cGc,MODERATE,COSM3721008(1),0.949681,1,rs711316,0.4(T),"0.0,0.0(B,B)",-1.355(N),-0.9460(T),,chr12,53700860,53700860,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His353Arg/c.1058A>G|376|C12orf10|protein_coding|CODING|NM_021640.3|7|1),downstream_gene_variant(MODIFIER||380||513|AAAS|protein_coding|CODING|NM_001173466.1||1),downstream_gene_variant(MODIFIER||380||546|AAAS|protein_coding|CODING|NM_015665.5||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,1,0.94,0.82,1.00,,0.142985(N),1.000(P),"1.08,1.08,1.08(T,T,T)",0.0000(T),0.344,1.636886,5.03,-2.92,-1.082000,-0.831000,-0.443000,0.890000,0.852000,0.002000,13.8281
synonymous_variant,AAAS,SILENT,NM_015665.5:p.Phe285Phe/c.855C>T,ttC/ttT,LOW,,0.915335,1,rs1546808,,,,,,chr12,53703021,53703021,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe252Phe/c.756C>T|513|AAAS|protein_coding|CODING|NM_001173466.1|8|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe285Phe/c.855C>T|546|AAAS|protein_coding|CODING|NM_015665.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116212.2,,1,0.9798,0.995,0.91,0.73,1.00,,,,,,,,,,,,,,,,
synonymous_variant,AAAS,SILENT,NM_015665.5:p.Asp138Asp/c.414T>C,gaT/gaC,LOW,,0.0363419,0,rs11540353,,,,,,chr12,53708910,53708910,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp138Asp/c.414T>C|513|AAAS|protein_coding|CODING|NM_001173466.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp138Asp/c.414T>C|546|AAAS|protein_coding|CODING|NM_015665.5|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.085,0.1113,0.08,0.02,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SP7,SILENT,NM_001173467.2:p.His376His/c.1128T>C,caT/caC,LOW,COSM4147243(1),0.961262,0.999,rs7138938,,,,,,chr12,53722098,53722098,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His376His/c.1128T>C|431|SP7|protein_coding|CODING|NM_001173467.2|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His358His/c.1074T>C|413|SP7|protein_coding|CODING|NM_001300837.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His376His/c.1128T>C|431|SP7|protein_coding|CODING|NM_152860.1|2|1)","GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,1,0.9899,1,0.95,0.86,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SP7,SILENT,NM_001173467.2:p.Ser366Ser/c.1098C>T,agC/agT,LOW,COSM4147244(1),0.895567,0.9524,rs7139272,,,,,,chr12,53722128,53722128,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser366Ser/c.1098C>T|431|SP7|protein_coding|CODING|NM_001173467.2|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser348Ser/c.1044C>T|413|SP7|protein_coding|CODING|NM_001300837.1|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser366Ser/c.1098C>T|431|SP7|protein_coding|CODING|NM_152860.1|2|1)","GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,0.9468,0.9798,0.9871,0.90,0.73,0.98,,,,,,,,,,,,,,,,
synonymous_variant,SP1,SILENT,NM_138473.2:p.Gln480Gln/c.1440A>G,caA/caG,LOW,COSM3998856(1),0.187899,0.1796,rs3741651,,,,,,chr12,53777171,53777171,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln473Gln/c.1419A>G|778|SP1|protein_coding|CODING|NM_003109.1|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln480Gln/c.1440A>G|785|SP1|protein_coding|CODING|NM_138473.2|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln432Gln/c.1296A>G|737|SP1|protein_coding|CODING|NM_001251825.1|3|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3",,,,0.1585,0.2147,0.162,0.18,0.20,0.18,,,,,,,,,,,,,,,,
synonymous_variant,CALCOCO1,SILENT,NM_020898.2:p.Ser368Ser/c.1104T>C,agT/agC,LOW,,0.420327,0.5288,rs3741658,,,,,,chr12,54109733,54109733,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser283Ser/c.849T>C|606|CALCOCO1|protein_coding|CODING|NM_001143682.1|8|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser368Ser/c.1104T>C|691|CALCOCO1|protein_coding|CODING|NM_020898.2|9|1),non_coding_exon_variant(MODIFIER|||n.1145T>C||CALCOCO1||CODING|NR_026554.1|8|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4642,0.3674,0.3042,0.31,0.41,0.26,,,,,,,,,,,,,,,,
synonymous_variant,HOXC11,SILENT,NM_014212.3:p.Ser12Ser/c.36T>G,tcT/tcG,LOW,COSM4147251(1),0.999401,1,rs4759315,,,,,,chr12,54367061,54367061,T,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser12Ser/c.36T>G|304|HOXC11|protein_coding|CODING|NM_014212.3|1|1),intron_variant(MODIFIER|||n.59+1621A>C||HOTAIR||NON_CODING|NR_047517.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,H1ESC:USF1,HeLa-S3:DNase1,GM06990:H3K27me3,HeLa-S3:H3K79me2,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,HSMM:DNase1,HSMM:H3K9ac,CD4:H3K79me3,HMEC:H3K27me3,HeLa-S3:PolII,K562:H3K27me3,HeLa-S3:H3K27ac,HeLa-S3:Ini1,IMR90:H3K27me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HOXC9,SILENT,NM_006897.1:p.Ala175Ala/c.525C>T,gcC/gcT,LOW,COSM3749220(6),0.578075,0.7609,rs2241820,,,,,,chr12,54394497,54394497,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala175Ala/c.525C>T|260|HOXC9|protein_coding|CODING|NM_006897.1|1|1),upstream_gene_variant(MODIFIER||703|||HOXC-AS1||NON_CODING|NR_047504.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K27me3,HMEC:H3K4me2,NH-A:H3K27me3,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,K562:DNase1",,,,0.547,0.5346,0.6014,0.61,0.57,0.62,,,,,,,,,,,,,,,,
start_lost,COPZ1,MISSENSE,NM_001271736.1:p.Met1?/c.1A>G,Atg/Gtg,HIGH,COSN164275,0.201278,0.2222,rs11170877,0(D),0.0(B),,-1.0614(T),COPZ1:0.20(5);,chr12,54734289,54734289,A,G,het,"start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|185|COPZ1|protein_coding|CODING|NM_001271736.1|2|1),intron_variant(MODIFIER|||c.19-42A>G|160|COPZ1|protein_coding|CODING|NM_001271735.1|1|1),intron_variant(MODIFIER|||c.19-42A>G|177|COPZ1|protein_coding|CODING|NM_016057.2|1|1),intron_variant(MODIFIER|||n.93-42A>G||COPZ1||CODING|NR_073424.1|1|1),intron_variant(MODIFIER|||c.19-1701A>G|154|COPZ1|protein_coding|CODING|NM_001271734.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.18,0.2349,0.1252,0.15,0.23,0.11,,,1.000(P),,0.0000(T),0.248,0.619402,4.35,2.49,-0.213000,0.206000,0.266000,0.252000,0.000000,0.000000,4.024
synonymous_variant,ZNF385A,SILENT,NM_001130967.2:p.Asp122Asp/c.366C>T,gaC/gaT,LOW,COSM3753373(1),0.240016,0.3075,rs2887875,,,,,,chr12,54767812,54767812,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp122Asp/c.366C>T|386|ZNF385A|protein_coding|CODING|NM_001130967.2|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp122Asp/c.366C>T|305|ZNF385A|protein_coding|CODING|NM_001130968.2|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp102Asp/c.306C>T|285|ZNF385A|protein_coding|CODING|NM_001290001.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp102Asp/c.306C>T|366|ZNF385A|protein_coding|CODING|NM_001290002.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp102Asp/c.306C>T|366|ZNF385A|protein_coding|CODING|NM_001290004.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp102Asp/c.306C>T|366|ZNF385A|protein_coding|CODING|NM_015481.2|3|1),intron_variant(MODIFIER|||n.206+20132G>A||LOC102724050||NON_CODING|NR_120486.1|1|1),intron_variant(MODIFIER|||n.206+20132G>A||LOC102724050||NON_CODING|NR_120487.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3425,0.3674,0.165,0.16,0.13,0.18,,,,,,,,,,,,,,,,
synonymous_variant,NCKAP1L,SILENT,NM_005337.4:p.Leu289Leu/c.867C>G,ctC/ctG,LOW,,0.81869,0.9494,rs2458409,,,,,,chr12,54905815,54905815,C,G,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu239Leu/c.717C>G|1077|NCKAP1L|protein_coding|CODING|NM_001184976.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu289Leu/c.867C>G|1127|NCKAP1L|protein_coding|CODING|NM_005337.4|9|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.8364,0.7853,0.8121,0.78,0.73,0.80,,,,,,,,,,,,,,,,
synonymous_variant,PDE1B,SILENT,NM_000924.3:p.Asn492Asn/c.1476T>C,aaT/aaC,LOW,COSM147541(2),0.498203,0.4732,rs1249950,,,,,,chr12,54970454,54970454,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn492Asn/c.1476T>C|536|PDE1B|protein_coding|CODING|NM_000924.3|14|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn472Asn/c.1416T>C|516|PDE1B|protein_coding|CODING|NM_001165975.2|13|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn355Asn/c.1065T>C|399|PDE1B|protein_coding|CODING|NM_001288768.1|14|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn451Asn/c.1353T>C|495|PDE1B|protein_coding|CODING|NM_001288769.1|13|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.547,0.5677,0.4732,0.51,0.50,0.51,,,,,,,,,,,,,,,,
synonymous_variant,PPP1R1A,SILENT,NM_006741.3:p.Glu145Glu/c.435G>A,gaG/gaA,LOW,COSM3998867(1),0.165535,0.0595,rs8407,1(T),,,-1.0981(T),,chr12,54974803,54974803,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu145Glu/c.435G>A|171|PPP1R1A|protein_coding|CODING|NM_006741.3|6|1),downstream_gene_variant(MODIFIER||1780||536|PDE1B|protein_coding|CODING|NM_000924.3||1),downstream_gene_variant(MODIFIER||1780||516|PDE1B|protein_coding|CODING|NM_001165975.2||1),downstream_gene_variant(MODIFIER||1780||399|PDE1B|protein_coding|CODING|NM_001288768.1||1),downstream_gene_variant(MODIFIER||1780||495|PDE1B|protein_coding|CODING|NM_001288769.1||1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2403,0.2666,0.3012,0.23,0.08,0.31,,,0.000(P),,0.0000(T),.,0.268099,4.95,4.95,0.655000,2.458000,3.445000,0.460000,0.963000,0.985000,14.0661
missense_variant,PPP1R1A,MISSENSE,NM_006741.3:p.Glu109Gly/c.326A>G,gAa/gGa,MODERATE,,0.970847,1,rs1249958,0.76(T),0.0(B),-1.795(N),-0.9915(T),,chr12,54975837,54975837,T,C,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu109Gly/c.326A>G|171|PPP1R1A|protein_coding|CODING|NM_006741.3|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,1,0.97,0.91,1.00,,0.150407(N),1.000(P),1.41(T),0.0000(T),0.035,-0.843381,5.28,3.42,-0.119000,0.738000,0.396000,0.112000,0.980000,0.134000,8.1903
synonymous_variant,MUCL1,SILENT,NM_058173.2:p.Ala53Ala/c.159A>G,gcA/gcG,LOW,,0.960264,0.998,rs1349910,,,,,,chr12,55250612,55250612,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala53Ala/c.159A>G|90|MUCL1|protein_coding|CODING|NM_058173.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3",,,,0.9857,0.9712,0.9533,0.95,0.92,0.96,,,,,,,,,,,,,,,,
missense_variant,OR9K2,MISSENSE,NM_001005243.1:p.Arg45Cys/c.133C>T,Cgc/Tgc,MODERATE,,0.304113,0.1141,rs12303066,0.05(D),0.009(B),1.165(L),-0.9728(T),,chr12,55523685,55523685,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg45Cys/c.133C>T|335|OR9K2|protein_coding|CODING|NM_001005243.1|1|1),HMEC:H3K27me3,,,,0.3722,0.2421,0.334,0.34,0.39,0.32,,0.961843(N),1.000(P),5.36(T),0.0000(T),0.046,0.864300,4.98,-3.9,-0.766000,-0.457000,-1.903000,0.643000,0.000000,0.000000,2.3085
missense_variant,OR9K2,MISSENSE,NM_001005243.1:p.Glu103Ala/c.308A>C,gAa/gCa,MODERATE,,0.304113,0.1141,rs7305779,0.49(T),0.0(B),-2.02(N),-1.0440(T),,chr12,55523860,55523860,A,C,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu103Ala/c.308A>C|335|OR9K2|protein_coding|CODING|NM_001005243.1|1|1),HMEC:H3K27me3,,,,0.3722,0.2421,0.334,0.34,0.39,0.32,,0.000123(N),1.000(P),5.57(T),0.0000(T),0.056,-0.977862,4.98,4.98,-0.127000,1.482000,0.353000,0.896000,0.995000,0.000000,6.3141
missense_variant,OR9K2,MISSENSE,NM_001005243.1:p.Arg207His/c.620G>A,cGc/cAc,MODERATE,COSM3753379(2),0.303714,0.1141,rs7306491,0.02(D),0.021(B),-0.59(N),-1.1024(T),,chr12,55524172,55524172,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg207His/c.620G>A|335|OR9K2|protein_coding|CODING|NM_001005243.1|1|1),HMEC:H3K27me3,,,,0.3722,0.2435,0.334,0.34,0.38,0.32,,0.004231(N),1.000(P),8.7(T),0.0000(T),0.103,0.571398,4.98,4.09,0.650000,1.466000,-0.020000,0.302000,0.085000,0.000000,8.3649
synonymous_variant,OR9K2,SILENT,NM_001005243.1:p.His254His/c.762T>C,caT/caC,LOW,COSM3753380(2),0.304113,0.1141,rs7137261,,,,,,chr12,55524314,55524314,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His254His/c.762T>C|335|OR9K2|protein_coding|CODING|NM_001005243.1|1|1),HMEC:H3K27me3,,,,0.3722,0.2421,0.334,0.34,0.39,0.32,,,,,,,,,,,,,,,,
missense_variant,OR6C74,MISSENSE,NM_001005490.1:p.Arg2Gly/c.4A>G,Aga/Gga,MODERATE,COSM3753381(3),0.220647,0.0794,rs7301705,0.16(T),0.027(B),0.405(N),-0.9179(T),,chr12,55641075,55641075,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg2Gly/c.4A>G|312|OR6C74|protein_coding|CODING|NM_001005490.1|1|1),,,,,0.3742,0.2291,0.333,0.26,0.16,0.32,,0.086750(N),1.000(P),4.7(T),0.0000(T),0.059,1.302047,4.83,-0.667,0.450000,-0.178000,-0.260000,0.147000,0.080000,0.376000,5.0269
stop_gained,OR6C74,NONSENSE,NM_001005490.1:p.Arg62*/c.184C>T,Cga/Tga,HIGH,COSM1362861(8),0.235623,0.1171,rs4522268,1(T),,,,,chr12,55641255,55641255,C,T,het,stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg62*/c.184C>T|312|OR6C74|protein_coding|CODING|NM_001005490.1|1|1),,,,,0.3773,0.2334,0.333,0.27,0.19,0.32,,0.000516(D),0.000(P),,,.,4.402942,4.83,1.73,-0.234000,0.706000,-1.308000,0.940000,0.611000,0.000000,5.628
missense_variant,OR6C74,MISSENSE,NM_001005490.1:p.Tyr75Cys/c.224A>G,tAc/tGc,MODERATE,COSM3753382(2),0.235823,0.1171,rs4388990,1(T),0.0(B),-1.42(N),-0.9872(T),,chr12,55641295,55641295,A,G,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr75Cys/c.224A>G|312|OR6C74|protein_coding|CODING|NM_001005490.1|1|1),,,,,0.3773,0.2334,0.333,0.27,0.19,0.32,,0.000024(N),1.000(P),5.58(T),0.0000(T),0.075,-2.548705,4.83,2.93,-0.229000,0.300000,-0.367000,0.351000,0.009000,0.000000,3.4523
missense_variant,OR6C74,MISSENSE,NM_001005490.1:p.Gly86Asp/c.257G>A,gGt/gAt,MODERATE,COSM3753383(3),0.227636,0.1141,rs6581025,0(D),0.274(B),1.485(L),-0.8787(T),,chr12,55641328,55641328,G,A,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly86Asp/c.257G>A|312|OR6C74|protein_coding|CODING|NM_001005490.1|1|1),,,,,0.3742,0.2291,0.333,0.26,0.16,0.32,,0.000062(D),1.000(P),4.16(T),0.0000(T),0.215,2.244713,5.36,4.47,0.551000,1.371000,0.584000,0.953000,0.204000,0.000000,9.0034
missense_variant,OR6C1,MISSENSE,NM_001005182.1:p.Cys130Tyr/c.389G>A,tGc/tAc,MODERATE,,0.782748,0.8581,rs7132431,1(T),0.0(B),-3.92(N),-0.9993(T),,chr12,55714772,55714772,G,A,het,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys130Tyr/c.389G>A|312|OR6C1|protein_coding|CODING|NM_001005182.1|1|1),,,,,0.6595,0.7695,0.7744,0.80,0.82,0.78,,0.000053(N),0.999(P),7.44(T),0.0000(T),0.035,-2.230293,4.59,3.41,-0.572000,0.266000,6.800000,0.024000,0.796000,1.000000,6.5609
missense_variant,OR6C1,MISSENSE,NM_001005182.1:p.His165Asp/c.493C>G,Cat/Gat,MODERATE,,0.780152,0.8591,rs7132347,1(T),0.0(B),-1.075(N),-0.9667(T),,chr12,55714876,55714876,C,G,het,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His165Asp/c.493C>G|312|OR6C1|protein_coding|CODING|NM_001005182.1|1|1),,,,,0.6401,0.7695,0.7753,0.80,0.83,0.78,,0.000008(N),1.000(P),8.75(T),0.0000(T),0.058,-2.184396,4.62,3.73,-0.371000,0.578000,-1.489000,0.709000,0.368000,0.000000,5.2225
missense_variant,OR6C1,MISSENSE,NM_001005182.1:p.Thr222Ile/c.665C>T,aCa/aTa,MODERATE,,0.107428,0,rs7132600,0(D),0.984(D),3.055(M),-0.6000(T),,chr12,55715048,55715048,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr222Ile/c.665C>T|312|OR6C1|protein_coding|CODING|NM_001005182.1|1|1),,,,,0.0532,0.0951,0.1571,0.18,0.20,0.16,,0.000294(D),1.000(P),8.58(T),0.0000(T),0.204,1.974087,4.62,4.62,0.563000,2.380000,3.185000,0.267000,0.055000,0.034000,17.2438
missense_variant,OR6C1,MISSENSE,NM_001005182.1:p.Val246Ile/c.736G>A,Gtc/Atc,MODERATE,,0.780351,0.8542,rs7132916,0.37(T),0.006(B),2.06(M),-0.9105(T),,chr12,55715119,55715119,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val246Ile/c.736G>A|312|OR6C1|protein_coding|CODING|NM_001005182.1|1|1),,,,,0.6421,0.7695,0.7753,0.80,0.83,0.78,,0.004018(N),1.000(P),8.04(T),0.0000(T),0.04,0.005984,4.99,-0.5,-0.360000,-0.225000,-0.994000,0.910000,0.925000,0.000000,1.3747
missense_variant,OR6C3,MISSENSE,NM_054104.1:p.Ser69Leu/c.206C>T,tCa/tTa,MODERATE,,0.107827,0,rs386592391,0.15(T),0.004(B),1.14(L),-1.0549(T),,chr12,55725690,55725690,C,T,het,missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser69Leu/c.206C>T|311|OR6C3|protein_coding|CODING|NM_054104.1|1|1),,,,,0.0532,0.0951,0.1571,0.18,0.20,0.16,,0.112395(N),1.000(P),2.16(T),0.0000(T),0.41,1.690093,4.82,4.82,0.461000,2.665000,0.936000,0.894000,0.988000,0.000000,14.1168
missense_variant,OR6C65,MISSENSE,NM_001005518.1:p.Thr222Ala/c.664A>G,Aca/Gca,MODERATE,COSM4147259(1),0.780551,0.9266,rs7971073,0.04(D),0.595(P),1.425(L),-0.9705(T),,chr12,55794976,55794976,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr222Ala/c.664A>G|312|OR6C65|protein_coding|CODING|NM_001005518.1|1|1),,,,,0.8967,0.8746,0.841,0.74,0.54,0.83,,0.124998(N),1.000(P),8.91(T),0.0000(T),0.023,2.258051,3.71,3.71,0.348000,1.688000,0.741000,0.935000,0.038000,0.000000,4.4432
missense_variant,OR6C2,MISSENSE,NM_054105.1:p.Leu209Pro/c.626T>C,cTa/cCa,MODERATE,,0.091254,0,rs11171467,0(D),0.929(D),3.195(M),-0.8911(T),,chr12,55846623,55846623,T,C,het,missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu209Pro/c.626T>C|312|OR6C2|protein_coding|CODING|NM_054105.1|1|1),,,,,0.0573,0.0937,0.1571,0.15,0.13,0.16,,0.000319(D),1.000(P),0.78(T),0.0021(T),0.467,2.389734,5.42,5.42,0.496000,2.275000,2.168000,0.006000,0.007000,0.042000,11.0786
missense_variant,OR6C70,MISSENSE,NM_001005499.1:p.Leu181Pro/c.542T>C,cTt/cCt,MODERATE,,0.829872,0.8929,rs10747756,1(T),0.0(B),-2.81(N),-0.9907(T),,chr12,55863381,55863381,A,G,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu181Pro/c.542T>C|312|OR6C70|protein_coding|CODING|NM_001005499.1|1|1),,,,,0.6933,0.7723,0.7525,0.82,0.93,0.76,,0.000099(N),1.000(P),8.99(T),0.0000(T),0.044,-3.373569,4.06,3.16,-0.119000,0.481000,0.828000,0.037000,0.270000,0.001000,7.1306
missense_variant,OR6C4,MISSENSE,NM_001005494.1:p.Ile37Val/c.109A>G,Atc/Gtc,MODERATE,,0.995407,1,rs7313899,1(T),0.001(B),-0.495(N),-0.9816(T),,chr12,55945119,55945119,A,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile37Val/c.109A>G|309|OR6C4|protein_coding|CODING|NM_001005494.1|1|1),,,,,0.999,0.9971,0.9811,0.99,1.00,0.99,,0.015296(N),1.000(P),6.76(T),0.0000(T),0.017,-1.659809,4.77,1.82,-0.133000,0.035000,-2.974000,0.915000,0.121000,0.000000,0.4935
missense_variant,OR10P1,MISSENSE,NM_206899.1:p.Pro88Leu/c.263C>T,cCg/cTg,MODERATE,COSM4147263(2),0.270567,0.2331,rs10876838,0.37(T),0.001(B),0.95(L),-0.9587(T),,chr12,56030938,56030938,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro88Leu/c.263C>T|313|OR10P1|protein_coding|CODING|NM_206899.1|1|1),"HUVEC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2556,0.3919,0.4901,0.35,0.15,0.46,,0.100381(N),1.000(P),4.63(T),0.0000(T),0.075,-0.687846,4.28,-2.44,0.561000,-0.552000,-0.189000,0.001000,0.000000,0.000000,1.4625
missense_variant,OR10P1,MISSENSE,NM_206899.1:p.Val200Met/c.598G>A,Gtg/Atg,MODERATE,COSM147546(3),0.271166,0.2331,rs7970885,0.34(T),0.86(P),-0.7(N),-1.1893(T),,chr12,56031273,56031273,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val200Met/c.598G>A|313|OR10P1|protein_coding|CODING|NM_206899.1|1|1),"HUVEC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2454,0.3905,0.4901,0.36,0.16,0.46,,0.721873(N),1.000(P),8.63(T),0.0000(T),0.081,1.271097,4.44,2.52,0.561000,1.142000,-0.123000,0.002000,0.007000,0.000000,8.5889
missense_variant,ITGA7,MISSENSE,NM_001144996.1:p.Arg655His/c.1964G>A,cGc/cAc,MODERATE,COSM4147273(2),0.599441,0.9306,rs1800974,0.53(T),"0.001,0.0,0.001,0.002(B,B,B,B)",0.425(N),-1.0023(T),,chr12,56089357,56089357,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg655His/c.1964G>A|1141|ITGA7|protein_coding|CODING|NM_001144996.1|14|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg558His/c.1673G>A|1044|ITGA7|protein_coding|CODING|NM_001144997.1|14|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg651His/c.1952G>A|1137|ITGA7|protein_coding|CODING|NM_002206.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K27me3",,RCV000079979.2,,0.7423,0.621,0.495,0.45,0.34,0.51,,0.572722(N),1.000(P),"0.84,0.84,0.84,0.84,0.84,0.84,0.84,0.84(T,T,T,T,T,T,T,T)",0.0000(T),0.246,1.140294,4.84,-0.706,0.561000,-0.033000,0.204000,0.953000,0.079000,0.001000,9.2195
synonymous_variant,MMP19,SILENT,NM_002429.5:p.Pro28Pro/c.84T>C,ccT/ccC,LOW,,0.992412,1,rs7294345,,,,,,chr12,56236531,56236531,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro28Pro/c.84T>C|305|MMP19|protein_coding|CODING|NM_001272101.1|1|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro28Pro/c.84T>C|508|MMP19|protein_coding|CODING|NM_002429.5|1|1),non_coding_exon_variant(MODIFIER|||n.237T>C||MMP19||CODING|NR_073606.1|1|1)","NHEK:H3K4me3,IMR90:H3K9ac,HSMM:H3K27ac,HSMM:H3K4me2,IMR90:H3K4me2,IMR90:H3K4ac,HSMM:H3K9ac,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,IMR90:H3K4me3",,,,1,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,WIBG,SILENT,NM_032345.2:p.Pro179Pro/c.537T>C,ccT/ccC,LOW,,0.961861,1,rs7302270,,,,,,chr12,56295734,56295734,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro178Pro/c.534T>C|203|WIBG|protein_coding|CODING|NM_001143853.1|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro179Pro/c.537T>C|204|WIBG|protein_coding|CODING|NM_032345.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PMEL,SILENT,NM_001200054.1:p.Asn659Asn/c.1977C>T,aaC/aaT,LOW,COSM3998885(1),0.719449,0.7748,rs1052206,,,,,,chr12,56348028,56348028,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn566Asn/c.1698C>T|575|PMEL|protein_coding|CODING|NM_001200053.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn659Asn/c.1977C>T|668|PMEL|protein_coding|CODING|NM_001200054.1|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn652Asn/c.1956C>T|661|PMEL|protein_coding|CODING|NM_006928.4|12|1),downstream_gene_variant(MODIFIER||221||735|DGKA|protein_coding|CODING|NM_001345.4||1),downstream_gene_variant(MODIFIER||221||735|DGKA|protein_coding|CODING|NM_201444.2||1),downstream_gene_variant(MODIFIER||221||735|DGKA|protein_coding|CODING|NM_201445.1||1),downstream_gene_variant(MODIFIER||221||735|DGKA|protein_coding|CODING|NM_201554.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8497,0.7522,0.7932,0.72,0.55,0.81,,,,,,,,,,,,,,,,
synonymous_variant,SUOX,SILENT,NM_000456.2:p.Ser427Ser/c.1281G>C,tcG/tcC,LOW,,0.752196,0.9355,rs773115,,,,,,chr12,56398454,56398454,G,C,hom,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser427Ser/c.1281G>C|545|SUOX|protein_coding|CODING|NM_000456.2|6|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser427Ser/c.1281G>C|545|SUOX|protein_coding|CODING|NM_001032386.1|5|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser427Ser/c.1281G>C|545|SUOX|protein_coding|CODING|NM_001032387.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118423.2,,0.9499,0.8977,0.9205,0.74,0.38,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ERBB3,SILENT,NM_001982.3:p.Arg1116Arg/c.3348G>A,agG/agA,LOW,,0.252196,0.2887,rs2271189,,,,,,chr12,56494991,56494991,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg1116Arg/c.3348G>A|1342|ERBB3|protein_coding|CODING|NM_001982.3|27|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2157,0.3718,0.4036,0.31,0.14,0.40,,,,,,,,,,,,,,,,
missense_variant,ERBB3,MISSENSE,NM_001982.3:p.Leu1177Ile/c.3529C>A,Ctt/Att,MODERATE,,0.00119808,0,rs55699040,0.18(T),"0.831,0.775,0.453(P,P,P)",0.805(L),-0.2513(T),,chr12,56495339,56495339,C,A,het,missense_variant(MODERATE|MISSENSE|Ctt/Att|p.Leu1177Ile/c.3529C>A|1342|ERBB3|protein_coding|CODING|NM_001982.3|28|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H2BK120ac",,,,0,0.0043,0.003,0.00,0.00,0.01,,0.000024(D),1.000(D),"-1.22,-1.16,-1.21,-1.38,-1.13(T,T,T,T,T)",0.3813(T),0.234,1.796763,5.63,5.63,0.655000,2.650000,2.328000,0.995000,1.000000,0.958000,14.7192
synonymous_variant,ANKRD52,SILENT,NM_173595.3:p.Ser282Ser/c.846C>G,tcC/tcG,LOW,,0.804712,0.9643,rs808919,,,,,,chr12,56647911,56647911,G,C,hom,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser282Ser/c.846C>G|1076|ANKRD52|protein_coding|CODING|NM_173595.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9806,0.8847,0.9284,0.80,0.51,0.93,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD52,SILENT,NM_173595.3:p.Ala143Ala/c.429T>C,gcT/gcC,LOW,COSM431508(1),0.80631,0.9643,rs1274490,,,,,,chr12,56649601,56649601,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala143Ala/c.429T>C|1076|ANKRD52|protein_coding|CODING|NM_173595.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9806,0.8862,0.9304,0.79,0.51,0.93,,,,,,,,,,,,,,,,
missense_variant,PAN2,MISSENSE,NM_001127460.2:p.Ile179Leu/c.535A>C,Ata/Cta,MODERATE,COSM4147298(1),0.835863,1,rs1918496,0.62(T),"0.005,0.003,0.002(B,B,B)",1.65(L),-0.9745(T),,chr12,56722060,56722060,T,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile179Leu/c.535A>C|1202|PAN2|protein_coding|CODING|NM_001127460.2|4|1),missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile179Leu/c.535A>C|1201|PAN2|protein_coding|CODING|NM_001166279.1|4|1),missense_variant(MODERATE|MISSENSE|Ata/Cta|p.Ile179Leu/c.535A>C|1198|PAN2|protein_coding|CODING|NM_014871.4|4|1)","GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9409,0.998,0.83,0.49,1.00,,0.082581(N),1.000(P),"0.02,0.02,0.02,0.02,0.02(T,T,T,T,T)",0.0000(T),0.269,0.873098,4.45,-8.8,-2.295000,-2.435000,-2.654000,0.474000,0.006000,0.000000,5.4353
missense_variant,TIMELESS,MISSENSE,NM_003920.3:p.Pro1018Leu/c.3053C>T,cCg/cTg,MODERATE,COSM3753397(1),0.391573,0.2768,rs2291739,0.06(T),0.977(D),1.955(M),-0.8713(T),,chr12,56814653,56814653,G,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1018Leu/c.3053C>T|1208|TIMELESS|protein_coding|CODING|NM_003920.3|25|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.455,0.3703,0.5636,0.49,0.35,0.56,,0.000000(D),0.000(P),"2.69,2.69,0.27(T,T,T)",0.0000(T),0.808,3.541190,5.4,5.4,0.561000,2.708000,9.170000,0.019000,0.907000,1.000000,18.3181
synonymous_variant,TIMELESS,SILENT,NM_003920.3:p.Leu38Leu/c.114G>C,ctG/ctC,LOW,COSM147549(3),0.469449,0.2619,rs2279665,,,,,,chr12,56827694,56827694,C,G,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu38Leu/c.114G>C|1208|TIMELESS|protein_coding|CODING|NM_003920.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4663,0.3141,0.5497,0.58,0.64,0.55,,,,,,,,,,,,,,,,
missense_variant,SPRYD4,MISSENSE,NM_207344.3:p.Met50Thr/c.149T>C,aTg/aCg,MODERATE,,0.988818,1,rs2657881,0.19(T),0.0(B),-1.48(N),-0.9383(T),,chr12,56862886,56862886,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met50Thr/c.149T>C|207|SPRYD4|protein_coding|CODING|NM_207344.3|2|1),downstream_gene_variant(MODIFIER||1842||326|GLS2|protein_coding|CODING|NM_001280796.1||1),downstream_gene_variant(MODIFIER||1842||337|GLS2|protein_coding|CODING|NM_001280797.1||1),downstream_gene_variant(MODIFIER||1842||337|GLS2|protein_coding|CODING|NM_001280798.1||1),downstream_gene_variant(MODIFIER||1842||602|GLS2|protein_coding|CODING|NM_013267.3||1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,K562:ELF1,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3",,,,1,0.9971,0.999,0.99,0.98,1.00,,0.000000(N),0.000(P),0.29(T),0.0000(T),0.34,2.591679,5.59,5.59,-0.119000,1.527000,4.443000,0.765000,0.839000,1.000000,14.0217
synonymous_variant,RBMS2,SILENT,NM_002898.3:p.Leu27Leu/c.79T>C,Ttg/Ctg,LOW,,0.685703,0.8393,rs3759091,,,,,,chr12,56956213,56956213,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu27Leu/c.79T>C|407|RBMS2|protein_coding|CODING|NM_002898.3|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8067,0.7565,0.8072,0.69,0.43,0.82,,,,,,,,,,,,,,,,
synonymous_variant,NACA,SILENT,NM_001113203.2:p.Ile891Ile/c.2673T>A,atT/atA,LOW,,0.795527,0.745,rs4788,,,,,,chr12,57106660,57106660,A,T,het,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile181Ile/c.543T>A|215|NACA|protein_coding|CODING|NM_001113202.1|7|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile891Ile/c.2673T>A|925|NACA|protein_coding|CODING|NM_001113203.2|10|1),non_coding_exon_variant(MODIFIER|||n.866T>A||NACA||CODING|NR_045277.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8517,0.755,0.7316,0.76,0.84,0.72,,,,,,,,,,,,,,,,
missense_variant,NACA,MISSENSE,NM_001113203.2:p.Leu688Pro/c.2063T>C,cTg/cCg,MODERATE,COSM4147301(1),0.809105,0.748,rs2958149,0.71(T),"0.0,0.0(B,B)",-0.55(N),-1.0014(T),,chr12,57109792,57109792,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu688Pro/c.2063T>C|925|NACA|protein_coding|CODING|NM_001113203.2|5|1),intron_variant(MODIFIER|||c.71-1321T>C|215|NACA|protein_coding|CODING|NM_001113202.1|2|1),intron_variant(MODIFIER|||n.394-1321T>C||NACA||CODING|NR_045277.1|2|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H4K20me1,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8517,0.7594,0.7316,0.77,0.90,0.72,,,0.000(P),"1.11,1.06(T,T)",0.0000(T),0.093,-0.643742,4.08,4.08,-0.338000,0.932000,3.591000,0.983000,1.000000,1.000000,10.999
missense_variant,NACA,MISSENSE,NM_001113203.2:p.Phe405Ser/c.1214T>C,tTt/tCt,MODERATE,,0.808706,0.745,rs2926743,0(D),"0.0,0.0(B,B)",0(N),-1.0546(T),,chr12,57114100,57114100,A,G,het,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe405Ser/c.1214T>C|925|NACA|protein_coding|CODING|NM_001113203.2|3|1),intron_variant(MODIFIER|||c.70+4136T>C|215|NACA|protein_coding|CODING|NM_001113202.1|2|1),intron_variant(MODIFIER|||n.393+4136T>C||NACA||CODING|NR_045277.1|2|1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,NHEK:DNase1,HSMM:H3K79me2",,,,0.8528,0.7594,0.7316,0.78,0.90,0.72,,,1.000(P),"0.91,1.01(T,T)",0.0000(T),0.049,0.060360,3.62,0.525,-0.701000,-0.202000,0.063000,0.163000,0.015000,0.000000,4.1106
missense_variant,MYO1A,MISSENSE,NM_001256041.1:p.Gly662Glu/c.1985G>A,gGg/gAg,MODERATE,,0.0129792,0,rs33962952,0.7(T),0.004(B),-1.335(N),-1.0163(T),,chr12,57431402,57431402,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly662Glu/c.1985G>A|1043|MYO1A|protein_coding|CODING|NM_001256041.1|20|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly662Glu/c.1985G>A|1043|MYO1A|protein_coding|CODING|NM_005379.3|19|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000008627.1|RCV000038471.1,,0.0143,0.0173,0.0368,0.03,0.01,0.04,,0.039125(N),0.097(A),"-0.45,-0.45,-0.45(T,T,T)",0.0167(T),0.232,-0.463463,4.96,-1.13,-0.229000,-0.059000,-1.879000,0.936000,0.991000,0.000000,8.4573
synonymous_variant,MYO1A,SILENT,NM_001256041.1:p.Phe395Phe/c.1185T>C,ttT/ttC,LOW,,0.0169728,0,rs17546153,,,,,,chr12,57435052,57435052,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe395Phe/c.1185T>C|1043|MYO1A|protein_coding|CODING|NM_001256041.1|15|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe395Phe/c.1185T>C|1043|MYO1A|protein_coding|CODING|NM_005379.3|14|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000038469.1,,0.0194,0.0202,0.0487,0.03,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,TMEM194A,MISSENSE,NM_001130963.1:p.Ile217Val/c.649A>G,Att/Gtt,MODERATE,,0.01877,0,rs17546579,0.57(T),"0.012,0.028(B,B)",0.55(N),-1.0883(T),,chr12,57457959,57457959,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile217Val/c.649A>G|444|TMEM194A|protein_coding|CODING|NM_001130963.1|6|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile144Val/c.430A>G|371|TMEM194A|protein_coding|CODING|NM_015257.2|5|1)","CD4:DNase1,GM12878:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:DNase1",,,,0.0194,0.0202,0.0477,0.03,0.01,0.05,,0.000488(N),0.610(N),"0.94,0.94(T,T)",0.0080(T),0.03,1.814146,5.71,0.304,0.528000,0.426000,1.120000,0.999000,1.000000,1.000000,1.2111
synonymous_variant,NAB2,SILENT,NM_005967.3:p.Thr335Thr/c.1005G>A,acG/acA,LOW,,0.0189696,0,rs1057290,,,,,,chr12,57486278,57486278,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr335Thr/c.1005G>A|525|NAB2|protein_coding|CODING|NM_005967.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0187,0.0467,0.03,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,LRP1,SILENT,NM_002332.2:p.Ala2426Ala/c.7278C>T,gcC/gcT,LOW,,0.536542,0.494,rs1800139,,,,,,chr12,57585144,57585144,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2426Ala/c.7278C>T|4544|LRP1|protein_coding|CODING|NM_002332.2|44|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7863,0.5389,0.6849,0.57,0.34,0.68,,,,,,,,,,,,,,,,
missense_variant,LRP1,MISSENSE,NM_002332.2:p.Gln2900Pro/c.8699A>C,cAa/cCa,MODERATE,,0.989816,1,rs7397167,0.39(T),0.0(B),-0.98(N),-0.9424(T),,chr12,57589784,57589784,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln2900Pro/c.8699A>C|4544|LRP1|protein_coding|CODING|NM_002332.2|54|1),splice_region_variant(LOW|||c.8699A>C|4544|LRP1|protein_coding|CODING|NM_002332.2|54|1),downstream_gene_variant(MODIFIER||1425|||MIR1228||NON_CODING|NR_031597.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,0.99,0.97,1.00,,0.001835(N),0.000(P),-2.59(D),0.0000(T),0.026,1.862923,4.54,4.54,-0.217000,1.145000,3.699000,0.949000,1.000000,0.985000,13.0899
synonymous_variant,LRP1,SILENT,NM_002332.2:p.Thr2999Thr/c.8997T>C,acT/acC,LOW,COSM4147319(1),0.984625,1,rs7308698,,,,,,chr12,57590869,57590869,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr2999Thr/c.8997T>C|4544|LRP1|protein_coding|CODING|NM_002332.2|56|1),"H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LRP1,SILENT,NM_002332.2:p.Thr3261Thr/c.9783G>A,acG/acA,LOW,COSM3998893(1),0.533347,0.5,rs1140648,,,,,,chr12,57593101,57593101,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr3261Thr/c.9783G>A|4544|LRP1|protein_coding|CODING|NM_002332.2|61|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7863,0.536,0.6839,0.56,0.33,0.68,,,,,,,,,,,,,,,,
synonymous_variant,NXPH4,SILENT,NM_007224.3:p.Pro202Pro/c.606C>G,ccC/ccG,LOW,COSM3749225(11),0.967452,1,rs7979061,,,,,,chr12,57619209,57619209,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro202Pro/c.606C>G|308|NXPH4|protein_coding|CODING|NM_007224.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:DNase1,K562:DNase1",,,,1,0.9928,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NXPH4,SILENT,NM_007224.3:p.Pro253Pro/c.759G>A,ccG/ccA,LOW,COSM147553(4),0.350839,0.4752,rs10783816,,,,,,chr12,57619362,57619362,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro253Pro/c.759G>A|308|NXPH4|protein_coding|CODING|NM_007224.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:DNase1,K562:DNase1",,,,0.2301,0.4337,0.334,0.32,0.32,0.33,,,,,,,,,,,,,,,,
synonymous_variant,SHMT2,SILENT,NM_005412.5:p.Leu323Leu/c.969G>T,ctG/ctT,LOW,,0.0866613,0.2272,rs2229717,,,,-1.0406(T),,chr12,57627074,57627074,G,T,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu313Leu/c.939G>T|494|SHMT2|protein_coding|CODING|NM_001166356.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu302Leu/c.906G>T|483|SHMT2|protein_coding|CODING|NM_001166357.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu302Leu/c.906G>T|483|SHMT2|protein_coding|CODING|NM_001166358.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu302Leu/c.906G>T|483|SHMT2|protein_coding|CODING|NM_001166359.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu323Leu/c.969G>T|504|SHMT2|protein_coding|CODING|NM_005412.5|8|1),downstream_gene_variant(MODIFIER||1612||87|NDUFA4L2|protein_coding|CODING|NM_020142.3||1),non_coding_exon_variant(MODIFIER|||n.977G>T||SHMT2||CODING|NR_029415.1|7|1),non_coding_exon_variant(MODIFIER|||n.1056G>T||SHMT2||CODING|NR_029416.1|7|1),non_coding_exon_variant(MODIFIER|||n.1095G>T||SHMT2||CODING|NR_029417.1|7|1),non_coding_exon_variant(MODIFIER|||n.1185G>T||SHMT2||CODING|NR_048562.1|7|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0654,0.0591,0.0507,0.03,0.03,0.03,,,0.000(P),,0.0003(T),.,0.715364,4.58,0.592,-0.222000,0.021000,-0.481000,0.882000,0.968000,0.195000,1.6307
synonymous_variant,GLI1,SILENT,NM_005269.2:p.Glu192Glu/c.576G>A,gaG/gaA,LOW,COSM3998894(1),0.363019,0.3046,rs2228225,,,,,,chr12,57859431,57859431,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu64Glu/c.192G>A|978|GLI1|protein_coding|CODING|NM_001160045.1|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu151Glu/c.453G>A|1065|GLI1|protein_coding|CODING|NM_001167609.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu192Glu/c.576G>A|1106|GLI1|protein_coding|CODING|NM_005269.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.407,0.3934,0.6233,0.50,0.24,0.63,,,,,,,,,,,,,,,,
missense_variant,GLI1,MISSENSE,NM_005269.2:p.Gly933Asp/c.2798G>A,gGt/gAt,MODERATE,COSM3998895(1),0.364018,0.3036,rs2228224,0.2(T),0.054(B),1.1(L),-1.0023(T),,chr12,57865321,57865321,G,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly805Asp/c.2414G>A|978|GLI1|protein_coding|CODING|NM_001160045.1|10|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly892Asp/c.2675G>A|1065|GLI1|protein_coding|CODING|NM_001167609.1|11|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly933Asp/c.2798G>A|1106|GLI1|protein_coding|CODING|NM_005269.2|12|1),downstream_gene_variant(MODIFIER||717||547|ARHGAP9|protein_coding|CODING|NM_001080156.1||1),downstream_gene_variant(MODIFIER||717||640|ARHGAP9|protein_coding|CODING|NM_001080157.1||1),downstream_gene_variant(MODIFIER||717||731|ARHGAP9|protein_coding|CODING|NM_032496.2||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H4K20me1,NH-A:H3K27me3,HMEC:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.409,0.3934,0.6252,0.50,0.24,0.63,,0.011202(N),0.999(P),"2.65,2.55,2.63,2.63(T,T,T,T)",0.0000(T),0.365,1.424561,4.53,0.557,0.555000,-0.001000,0.370000,0.993000,0.935000,0.921000,1.9411
missense_variant,GLI1,MISSENSE,NM_005269.2:p.Glu1100Gln/c.3298G>C,Gaa/Caa,MODERATE,COSM3998896(1),0.586262,0.3958,rs2228226,0.4(T),0.0(B),-1.1(N),-1.0520(T),,chr12,57865821,57865821,G,C,het,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu972Gln/c.2914G>C|978|GLI1|protein_coding|CODING|NM_001160045.1|10|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu1059Gln/c.3175G>C|1065|GLI1|protein_coding|CODING|NM_001167609.1|11|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu1100Gln/c.3298G>C|1106|GLI1|protein_coding|CODING|NM_005269.2|12|1),downstream_gene_variant(MODIFIER||217||547|ARHGAP9|protein_coding|CODING|NM_001080156.1||1),downstream_gene_variant(MODIFIER||217||640|ARHGAP9|protein_coding|CODING|NM_001080157.1||1),downstream_gene_variant(MODIFIER||217||731|ARHGAP9|protein_coding|CODING|NM_032496.2||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,NH-A:H3K27me3,HMEC:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.498,0.4755,0.674,0.71,0.77,0.68,,0.000525(N),1.000(P),"2.99,2.86,2.93,2.93(T,T,T,T)",0.0000(T),0.137,-0.663397,4.69,4.69,-0.120000,1.603000,2.147000,0.948000,0.999000,1.000000,10.0074
missense_variant,ARHGAP9,MISSENSE,NM_032496.2:p.Ser370Ala/c.1108T>G,Tca/Gca,MODERATE,COSM3931703(1),0.370208,0.3254,rs11544238,0.18(T),"0.0,0.001,0.002,0.001(B,B,B,B)",0.69(N),-0.9481(T),,chr12,57870155,57870155,A,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser186Ala/c.556T>G|547|ARHGAP9|protein_coding|CODING|NM_001080156.1|6|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser370Ala/c.1108T>G|640|ARHGAP9|protein_coding|CODING|NM_001080157.1|7|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser370Ala/c.1108T>G|731|ARHGAP9|protein_coding|CODING|NM_032496.2|8|1)","NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,GM12878:CTCF,CD4:H2BK5me1,HMEC:H3K27me3,GM12878:EBF,NHEK:H3K27me3,GM12878:PolII,CD4:CTCF,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,H1ESC:CTCF,GM06990:CTCF",,RCV000001248.4,,0.4683,0.3919,0.6243,0.49,0.20,0.64,,0.247523(N),0.785(P),"3.09,3.06,1.74,3.07,3.0,0.85(T,T,T,T,T,T)",0.0000(T),0.459,1.860850,4.89,-3.35,0.459000,-0.392000,-0.078000,0.042000,0.002000,0.717000,2.2052
synonymous_variant,PIP4K2C,SILENT,NM_001146258.1:p.Ala44Ala/c.132C>T,gcC/gcT,LOW,COSM4147334(1),0.311701,0.5337,rs11537654,,,,,,chr12,57985204,57985204,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala44Ala/c.132C>T|421|PIP4K2C|protein_coding|CODING|NM_001146258.1|1|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala44Ala/c.132C>T|403|PIP4K2C|protein_coding|CODING|NM_001146259.1|1|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala44Ala/c.132C>T|373|PIP4K2C|protein_coding|CODING|NM_001146260.1|1|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala44Ala/c.132C>T|421|PIP4K2C|protein_coding|CODING|NM_024779.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,GM12878:USF1,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,K562:USF1,NH-A:H3K4me3,GM12878:ZEB1,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,CD4:H4K5ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.4683,0.4078,0.2535,0.19,0.06,0.25,,,,,,,,,,,,,,,,
synonymous_variant,PIP4K2C,SILENT,NM_001146258.1:p.Leu321Leu/c.963T>G,ctT/ctG,LOW,,0.98123,1,rs775235,0.02(D),,,-0.8400(T),,chr12,57994743,57994743,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu321Leu/c.963T>G|421|PIP4K2C|protein_coding|CODING|NM_001146258.1|8|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu303Leu/c.909T>G|403|PIP4K2C|protein_coding|CODING|NM_001146259.1|8|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu273Leu/c.819T>G|373|PIP4K2C|protein_coding|CODING|NM_001146260.1|7|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu321Leu/c.963T>G|421|PIP4K2C|protein_coding|CODING|NM_024779.4|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.98,0.95,1.00,,0.100163(N),0.000(P),0.83(T),0.0000(T),.,0.720406,4.38,4.38,-0.335000,1.209000,0.348000,0.936000,1.000000,0.847000,10.6183
synonymous_variant,PIP4K2C,SILENT,NM_001146258.1:p.Ala381Ala/c.1143T>C,gcT/gcC,LOW,,0.910144,1,rs812873,,,,,,chr12,57995089,57995089,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala381Ala/c.1143T>C|421|PIP4K2C|protein_coding|CODING|NM_001146258.1|9|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala363Ala/c.1089T>C|403|PIP4K2C|protein_coding|CODING|NM_001146259.1|9|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala333Ala/c.999T>C|373|PIP4K2C|protein_coding|CODING|NM_001146260.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala381Ala/c.1143T>C|421|PIP4K2C|protein_coding|CODING|NM_024779.4|9|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9726,0.999,0.91,0.73,1.00,,,,,,,,,,,,,,,,
missense_variant,ARHGEF25,MISSENSE,NM_001111270.2:p.Gln545Arg/c.1634A>G,cAg/cGg,MODERATE,COSM4147335(1),0.630192,0.7222,rs1564374,1(T),"0.0,0.0(B,B)",-1.1(N),-0.9588(T),,chr12,58010163,58010163,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln545Arg/c.1634A>G|619|ARHGEF25|protein_coding|CODING|NM_001111270.2|15|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln506Arg/c.1517A>G|580|ARHGEF25|protein_coding|CODING|NM_182947.3|14|1),non_coding_exon_variant(MODIFIER|||n.2007A>G||ARHGEF25||CODING|NR_046223.1|15|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.7393,0.6657,0.5527,0.55,0.53,0.56,,0.081419(N),1.000(P),"1.23,1.2(T,T)",0.0000(T),0.1,-2.114913,4.56,3.66,-0.128000,0.659000,0.321000,0.122000,0.431000,0.247000,7.6461
missense_variant,SLC26A10,MISSENSE,NM_133489.2:p.Leu546Val/c.1636T>G,Tta/Gta,MODERATE,COSM4147339(1),0.959265,1,rs774895,0.29(T),0.0(B),0(N),-0.9878(T),,chr12,58019472,58019472,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu546Val/c.1636T>G|563|SLC26A10|protein_coding|CODING|NM_133489.2|14|1),downstream_gene_variant(MODIFIER||206||478|B4GALNT1|protein_coding|CODING|NM_001276468.1||1),downstream_gene_variant(MODIFIER||206||533|B4GALNT1|protein_coding|CODING|NM_001478.4||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,0.9899,0.999,0.96,0.88,1.00,,,0.000(P),-3.13(D),0.0000(T),0.034,0.951739,4.62,1.54,-1.054000,0.290000,0.267000,0.397000,0.999000,1.000000,7.3307
synonymous_variant,MARCH9,SILENT,NM_138396.5:p.Gly45Gly/c.135C>T,ggC/ggT,LOW,COSM3753423(4),0.926318,0.998,rs1689582,,,,,,chr12,58149446,58149446,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly45Gly/c.135C>T|346|MARCH9|protein_coding|CODING|NM_138396.5|1|1),"K562:ZBTB7A,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9284,0.9755,0.999,,,,,,,,,,,,,,,,,,,
synonymous_variant,CYP27B1,SILENT,NM_000785.3:p.Leu314Leu/c.942G>A,ttG/ttA,LOW,,0.0129792,0,rs386615791,,,,,,chr12,58158558,58158558,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu314Leu/c.942G>A|508|CYP27B1|protein_coding|CODING|NM_000785.3|5|1),"CD4:H3K9me1,NHEK:CTCF,H1ESC:H3K36me3,HepG2:Gabp,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,CD4:H3K4me2,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.0123,0.0187,0.0368,0.03,0.00,0.04,,,,,,,,,,,,,,,,
synonymous_variant,METTL21B,SILENT,NM_015433.2:p.His186His/c.558T>C,caT/caC,LOW,,0.404153,0.6468,rs923829,,,,,,chr12,58174306,58174306,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His186His/c.558T>C|226|METTL21B|protein_coding|CODING|NM_015433.2|3|1),3_prime_UTR_variant(MODIFIER||247|c.*247T>C|149|METTL21B|protein_coding|CODING|NM_206914.1|4|1)","CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.589,0.2767,0.3191,0.29,0.23,0.32,,,,,,,,,,,,,,,,
synonymous_variant,TSFM,SILENT,NM_001172696.1:p.Phe10Phe/c.30T>C,ttT/ttC,LOW,COSM4147347(1),0.363019,0.6468,rs10747783,,,,,,chr12,58176614,58176614,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe10Phe/c.30T>C|167|TSFM|protein_coding|CODING|NM_001172695.1|1|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe10Phe/c.30T>C|346|TSFM|protein_coding|CODING|NM_001172696.1|1|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe10Phe/c.30T>C|215|TSFM|protein_coding|CODING|NM_001172697.1|1|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe10Phe/c.30T>C|325|TSFM|protein_coding|CODING|NM_005726.5|1|1),downstream_gene_variant(MODIFIER||290||226|METTL21B|protein_coding|CODING|NM_015433.2||1),downstream_gene_variant(MODIFIER||290||149|METTL21B|protein_coding|CODING|NM_206914.1||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,CD4:CBP,H1ESC:H3K36me3,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,GM12878:Pax5,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:ATF3,K562:SP2,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:MOF,HepG2:H3K27ac,GM12878:SIX5,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HSMM:CTCF,GM12878:ATF3,HMEC:H3K27ac,CD4:H3K27ac,CD4:H4K20me1,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,CD4:H2BK5me1,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,GM12878:MEF2A,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,CD4:p300,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,IMR90:H4K8ac,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.5879,0.2594,0.3191,0.25,0.11,0.32,,,,,,,,,,,,,,,,
missense_variant,AVIL,MISSENSE,NM_006576.3:p.Lys204Glu/c.610A>G,Aaa/Gaa,MODERATE,,0.9998,1,rs2172521,0.37(T),"0.001,0.001(B,B)",-0.31(N),-0.9588(T),,chr12,58204283,58204283,T,C,hom,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys204Glu/c.610A>G|819|AVIL|protein_coding|CODING|NM_006576.3|6|1),"HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:Cjun,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,1,1,1,,,,,0.000003(N),1.000(P),"0.73,0.73(T,T)",0.0000(T),0.087,0.793840,5.19,5.19,-0.119000,1.440000,0.533000,0.273000,1.000000,0.069000,9.319
synonymous_variant,LRIG3,SILENT,NM_153377.4:p.Thr234Thr/c.702A>G,acA/acG,LOW,,0.0611022,0.0397,rs17533647,,,,,,chr12,59282702,59282702,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr174Thr/c.522A>G|1059|LRIG3|protein_coding|CODING|NM_001136051.2|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr234Thr/c.702A>G|1119|LRIG3|protein_coding|CODING|NM_153377.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1022,0.0461,0.1163,0.09,0.03,0.12,,,,,,,,,,,,,,,,
synonymous_variant,USP15,SILENT,NM_001252078.1:p.Pro485Pro/c.1455A>G,ccA/ccG,LOW,,0.560304,0.5813,rs2044846,,,,,,chr12,62778065,62778065,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro485Pro/c.1455A>G|981|USP15|protein_coding|CODING|NM_001252078.1|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro456Pro/c.1368A>G|952|USP15|protein_coding|CODING|NM_006313.2|10|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5143,0.5634,0.6332,0.59,0.53,0.62,,,,,,,,,,,,,,,,
synonymous_variant,MON2,SILENT,NM_015026.2:p.Ser527Ser/c.1581G>A,tcG/tcA,LOW,,0.353235,0.3423,rs7957417,,,,,,chr12,62926398,62926398,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser527Ser/c.1581G>A|1675|MON2|protein_coding|CODING|NM_001278469.1|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser527Ser/c.1581G>A|1711|MON2|protein_coding|CODING|NM_001278470.1|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser527Ser/c.1581G>A|1688|MON2|protein_coding|CODING|NM_001278471.1|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser455Ser/c.1365G>A|1645|MON2|protein_coding|CODING|NM_001278472.1|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser527Ser/c.1581G>A|1717|MON2|protein_coding|CODING|NM_015026.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3569,0.3055,0.3549,0.37,0.39,0.36,,,,,,,,,,,,,,,,
missense_variant,MON2,MISSENSE,NM_015026.2:p.Ala548Thr/c.1642G>A,Gct/Act,MODERATE,COSM4147378(1),0.347444,0.3423,rs10219555,,"0.009,0.047,0.062,0.075(B,B,B,B)",1.355(L),-0.9822(T),,chr12,62928633,62928633,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala548Thr/c.1642G>A|1675|MON2|protein_coding|CODING|NM_001278469.1|13|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala548Thr/c.1642G>A|1711|MON2|protein_coding|CODING|NM_001278470.1|13|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala548Thr/c.1642G>A|1688|MON2|protein_coding|CODING|NM_001278471.1|13|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala476Thr/c.1426G>A|1645|MON2|protein_coding|CODING|NM_001278472.1|14|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala548Thr/c.1642G>A|1717|MON2|protein_coding|CODING|NM_015026.2|13|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3569,0.2954,0.3549,0.37,0.37,0.36,,0.004973(N),0.000(P),"0.5,0.5,0.5,0.5,0.49,0.5,0.52(T,T,T,T,T,T,T)",0.0000(T),0.308,2.931028,4.93,4.93,0.555000,2.435000,3.775000,0.806000,1.000000,1.000000,11.9437
synonymous_variant,MON2,SILENT,NM_015026.2:p.Gly691Gly/c.2073G>T,ggG/ggT,LOW,,0.000998403,0,rs79202632,,,,,,chr12,62931441,62931441,G,T,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly691Gly/c.2073G>T|1675|MON2|protein_coding|CODING|NM_001278469.1|16|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly691Gly/c.2073G>T|1711|MON2|protein_coding|CODING|NM_001278470.1|16|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly668Gly/c.2004G>T|1688|MON2|protein_coding|CODING|NM_001278471.1|16|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly619Gly/c.1857G>T|1645|MON2|protein_coding|CODING|NM_001278472.1|17|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly691Gly/c.2073G>T|1717|MON2|protein_coding|CODING|NM_015026.2|16|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0,0.0029,0.003,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,AVPR1A,SILENT,NM_000706.4:p.Phe136Phe/c.408T>C,ttT/ttC,LOW,COSM1562502(5),0.650759,0.4583,rs1042615,,,,,,chr12,63544209,63544209,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe136Phe/c.408T>C|418|AVPR1A|protein_coding|CODING|NM_000706.4|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6984,0.6441,0.5368,0.66,0.83,0.58,,,,,,,,,,,,,,,,
synonymous_variant,DPY19L2,SILENT,NM_173812.4:p.Leu755Leu/c.2265A>G,ttA/ttG,LOW,COSM1363560(2),0.434105,0.2857,rs1054891,,,,,,chr12,63954304,63954304,T,C,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu755Leu/c.2265A>G|758|DPY19L2|protein_coding|CODING|NM_173812.4|22|1),,,,,0.2137,0.4568,0.4245,0.48,0.63,0.41,,,,,,,,,,,,,,,,
missense_variant,TMEM5,MISSENSE,NM_014254.2:p.Ala23Thr/c.67G>A,Gct/Act,MODERATE,COSM3753438(1),0.0523163,0.0129,rs61935924,,0.997(D),1.555(L),-1.2026(T),,chr12,64173807,64173807,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala23Thr/c.67G>A|443|TMEM5|protein_coding|CODING|NM_014254.2|1|1),upstream_gene_variant(MODIFIER||99||183|TMEM5|protein_coding|CODING|NM_001278237.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,GM12878:ETS1,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,RCV000118638.1,,0.0849,0.0562,0.1044,0.08,0.03,0.10,,0.000000(D),1.000(D),1.47(T),0.0044(T),0.158,4.540086,3.39,2.5,0.462000,1.009000,4.363000,0.982000,1.000000,1.000000,6.7536
synonymous_variant,SRGAP1,SILENT,NM_020762.2:p.Ser410Ser/c.1230A>T,tcA/tcT,LOW,,0.979832,1,rs789710,,,,,,chr12,64472803,64472803,A,T,hom,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser410Ser/c.1230A>T|1085|SRGAP1|protein_coding|CODING|NM_020762.2|9|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9928,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SRGAP1,SILENT,NM_020762.2:p.Ser758Ser/c.2274T>C,tcT/tcC,LOW,,0.588858,0.6319,rs789722,,,,,,chr12,64519806,64519806,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser758Ser/c.2274T>C|1085|SRGAP1|protein_coding|CODING|NM_020762.2|19|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5389,0.4683,0.5398,0.57,0.69,0.51,,,,,,,,,,,,,,,,
missense_variant,C12orf66,MISSENSE,NM_001300940.1:p.Ala443Ser/c.1327G>T,Gcc/Tcc,MODERATE,,0.995807,1,rs699638,,"0.0,0.0(B,B)",-1.78(N),-0.9505(T),,chr12,64587633,64587633,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala390Ser/c.1168G>T|392|C12orf66|protein_coding|CODING|NM_001300941.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala443Ser/c.1327G>T|445|C12orf66|protein_coding|CODING|NM_152440.4|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala443Ser/c.1327G>T|468|C12orf66|protein_coding|CODING|NM_001300940.1|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.98,1.00,,0.000000(N),0.999(P),"1.99,1.99,1.99(T,T,T)",0.0000(T),0.143,-0.805295,6.07,6.07,-0.256000,1.119000,6.217000,0.039000,0.980000,1.000000,13.7401
missense_variant,C12orf66,MISSENSE,NM_001300940.1:p.Met139Ile/c.417G>A,atG/atA,MODERATE,,0.986022,1,rs2335390,,"0.001,0.0(B,B)",-0.69(N),-0.9767(T),,chr12,64609562,64609562,C,T,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met139Ile/c.417G>A|468|C12orf66|protein_coding|CODING|NM_001300940.1|2|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met86Ile/c.258G>A|392|C12orf66|protein_coding|CODING|NM_001300941.1|2|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met139Ile/c.417G>A|445|C12orf66|protein_coding|CODING|NM_152440.4|2|1)","HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9971,1,0.99,0.96,1.00,,0.000002(N),1.000(P),"1.82,1.82,1.82(T,T,T)",0.0000(T),0.082,-0.823629,5.95,-9.44,-4.186000,-2.641000,-0.095000,0.722000,0.050000,0.598000,9.3187
synonymous_variant,C12orf56,SILENT,NM_001170633.1:p.Leu499Leu/c.1497G>T,ctG/ctT,LOW,,0.624601,0.5278,rs1002392,,,,,,chr12,64669090,64669090,C,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu339Leu/c.1017G>T|462|C12orf56|protein_coding|CODING|NM_001099676.2|8|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu499Leu/c.1497G>T|622|C12orf56|protein_coding|CODING|NM_001170633.1|10|1)",IMR90:H3K27me3,,,,0.6094,0.7622,0.8091,0.73,0.56,0.81,,,,,,,,,,,,,,,,
synonymous_variant,C12orf56,SILENT,NM_001170633.1:p.Asn246Asn/c.738T>C,aaT/aaC,LOW,,0.985423,1,rs7955105,,,,,,chr12,64712511,64712511,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn246Asn/c.738T>C|622|C12orf56|protein_coding|CODING|NM_001170633.1|4|1),intron_variant(MODIFIER|||c.488+12229T>C|462|C12orf56|protein_coding|CODING|NM_001099676.2|3|1)","H1ESC:DNase1,HSMM:DNase1,GM12878:Rad21,GM12878:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,1,0.9971,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TBK1,SILENT,NM_013254.3:p.Ile326Ile/c.978T>A,atT/atA,LOW,,0.353235,0.3046,rs7486100,,,,,,chr12,64875787,64875787,T,A,hom,synonymous_variant(LOW|SILENT|atT/atA|p.Ile326Ile/c.978T>A|729|TBK1|protein_coding|CODING|NM_013254.3|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3773,0.4798,0.5388,0.44,0.21,0.56,,,,,,,,,,,,,,,,
synonymous_variant,GNS,SILENT,NM_002076.3:p.Pro66Pro/c.198G>A,ccG/ccA,LOW,,,,rs1147096,,,,,,chr12,65146532,65146532,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro66Pro/c.198G>A|552|GNS|protein_coding|CODING|NM_002076.3|2|1),"HMEC:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000079972.1,,,,,0.69,0.90,0.59,,,,,,,,,,,,,,,,
synonymous_variant,WIF1,SILENT,NM_007191.4:p.Ala73Ala/c.219A>G,gcA/gcG,LOW,,0.824081,0.999,rs7301320,,,,,,chr12,65514266,65514266,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala73Ala/c.219A>G|379|WIF1|protein_coding|CODING|NM_007191.4|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8855,0.7118,0.7465,0.75,0.76,0.74,,,,,,,,,,,,,,,,
missense_variant,TMBIM4,MISSENSE,NM_001282606.1:p.Ile135Thr/c.404T>C,aTt/aCt,MODERATE,,0.470447,0.8839,rs8793,,"0.0,0.001,0.0,0.003,0.002(B,B,B,B,B)",-0.59(N),-1.0094(T),,chr12,66546100,66546100,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile135Thr/c.404T>C|285|TMBIM4|protein_coding|CODING|NM_001282606.1|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile88Thr/c.263T>C|162|TMBIM4|protein_coding|CODING|NM_001282609.1|3|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile57Thr/c.170T>C|207|TMBIM4|protein_coding|CODING|NM_001282610.1|3|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile88Thr/c.263T>C|238|TMBIM4|protein_coding|CODING|NM_016056.3|3|1)","HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5573,0.245,0.4175,0.38,0.29,0.42,,0.000212(N),0.000(P),"0.84,0.84,0.84,0.84,0.84(T,T,T,T,T)",0.0000(T),0.058,0.071874,5.87,2.64,-0.983000,0.413000,1.350000,0.336000,0.900000,0.986000,8.1268
missense_variant,IRAK3,MISSENSE,NM_007199.2:p.Ile147Val/c.439A>G,Ata/Gta,MODERATE,COSM3736073(1),0.708866,0.5794,rs1152888,,"0.007,0.001(B,B)",0.895(L),-1.0238(T),,chr12,66605228,66605228,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile86Val/c.256A>G|535|IRAK3|protein_coding|CODING|NM_001142523.1|4|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile147Val/c.439A>G|596|IRAK3|protein_coding|CODING|NM_007199.2|5|1),splice_region_variant(LOW|||c.256A>G|535|IRAK3|protein_coding|CODING|NM_001142523.1|4|1),splice_region_variant(LOW|||c.439A>G|596|IRAK3|protein_coding|CODING|NM_007199.2|5|1)",HepG2:H3K27me3,,,,0.8824,0.902,0.9155,0.78,0.49,0.93,,0.217378(N),0.841(P),"-0.6,-0.65(T,T)",0.0000(T),0.035,-1.130099,5.94,0.744,0.455000,-0.101000,-0.341000,0.309000,0.065000,0.015000,4.8705
synonymous_variant,HELB,SILENT,NM_033647.3:p.Ser958Ser/c.2874C>T,agC/agT,LOW,,0.0107827,0.001,rs17180665,,,,,,chr12,66725137,66725137,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser958Ser/c.2874C>T|1087|HELB|protein_coding|CODING|NM_033647.3|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0231,0.0288,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,HELB,MISSENSE,NM_033647.3:p.Pro966Leu/c.2897C>T,cCg/cTg,MODERATE,,0.477835,0.5585,rs1185244,,0.002(B),1.04(L),-0.9856(T),,chr12,66725160,66725160,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro966Leu/c.2897C>T|1087|HELB|protein_coding|CODING|NM_033647.3|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4867,0.6138,0.4205,0.42,0.38,0.43,,0.519971(N),1.000(P),2.72(T),0.0000(T),0.084,0.820277,5.24,2.41,-1.836000,0.216000,0.076000,0.004000,0.000000,0.000000,7.2998
synonymous_variant,HELB,SILENT,NM_033647.3:p.Thr1082Thr/c.3246C>A,acC/acA,LOW,,0.536342,0.5585,rs1168329,,,,,,chr12,66731864,66731864,C,A,hom,synonymous_variant(LOW|SILENT|acC/acA|p.Thr1082Thr/c.3246C>A|1087|HELB|protein_coding|CODING|NM_033647.3|13|1),"IMR90:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.4847,0.6282,0.4235,0.48,0.56,0.43,,,,,,,,,,,,,,,,
missense_variant,GRIP1,MISSENSE,NM_021150.3:p.Gln769Glu/c.2305C>G,Caa/Gaa,MODERATE,,0.84365,0.9296,rs13277,,"0.356,0.142,0.236,0.364(B,B,B,B)",2.215(M),-1.0253(T),,chr12,66786091,66786091,G,C,hom,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln769Glu/c.2305C>G|1061|GRIP1|protein_coding|CODING|NM_001178074.1|18|1),missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln769Glu/c.2305C>G|1076|GRIP1|protein_coding|CODING|NM_021150.3|18|1)","HUVEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9928,0.8473,0.997,0.89,0.67,1.00,,0.007689(N),0.000(P),"-1.18,-1.18,-1.18,-1.18,-1.18,-1.18(T,T,T,T,T,T)",0.0000(T),0.265,0.957488,4.47,4.47,0.561000,2.486000,7.309000,0.119000,0.967000,1.000000,17.7002
synonymous_variant,CAND1,SILENT,NM_018448.3:p.Leu1183Leu/c.3549G>A,ctG/ctA,LOW,COSM147562(1),0.40635,0.3194,rs1060350,,,,,,chr12,67706466,67706466,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1183Leu/c.3549G>A|1230|CAND1|protein_coding|CODING|NM_018448.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.499,0.4899,0.5905,0.49,0.28,0.60,,,,,,,,,,,,,,,,
synonymous_variant,DYRK2,SILENT,NM_006482.2:p.Gly497Gly/c.1491G>T,ggG/ggT,LOW,COSM4147416(1),0.510982,0.6052,rs3741644,,,,,,chr12,68052178,68052178,G,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly424Gly/c.1272G>T|528|DYRK2|protein_coding|CODING|NM_003583.3|2|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly497Gly/c.1491G>T|601|DYRK2|protein_coding|CODING|NM_006482.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.544,0.6037,0.5726,0.51,0.35,0.58,,,,,,,,,,,,,,,,
missense_variant,MDM1,MISSENSE,NM_017440.4:p.Arg489His/c.1466G>A,cGt/cAt,MODERATE,COSM3753455(2),0.6873,0.4504,rs2306393,,"0.0,0.0(B,B)",-0.205(N),-0.9976(T),,chr12,68708761,68708761,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg454His/c.1361G>A|679|MDM1|protein_coding|CODING|NM_001205028.1|9|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg489His/c.1466G>A|714|MDM1|protein_coding|CODING|NM_017440.4|9|1)","HMEC:H3K36me3,HepG2:H3K36me3",,,,0.6329,0.7392,0.7187,0.76,0.84,0.71,,0.181878(N),1.000(P),"2.0,2.0,2.0(T,T,T)",0.0000(T),0.042,1.466748,4.43,1.94,-0.817000,0.008000,-0.038000,0.087000,0.009000,0.000000,4.464
missense_variant,MDM1,MISSENSE,NM_017440.4:p.Val383Ile/c.1147G>A,Gtt/Att,MODERATE,COSM3753456(1),0.137181,0.1131,rs17224810,,"0.001,0.004(B,B)",-0.255(N),-0.9510(T),,chr12,68709892,68709892,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val348Ile/c.1042G>A|679|MDM1|protein_coding|CODING|NM_001205028.1|8|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val383Ile/c.1147G>A|714|MDM1|protein_coding|CODING|NM_017440.4|8|1)",HepG2:H3K36me3,,,,0.0951,0.3098,0.1859,0.16,0.09,0.20,,0.267906(N),0.722(P),"2.17,2.17,2.17(T,T,T)",0.0000(T),0.065,-2.246298,5.77,-6.15,-2.048000,-1.379000,-0.243000,0.010000,0.043000,0.310000,15.5588
synonymous_variant,MDM1,SILENT,NM_020128.2:p.Leu200Leu/c.600G>A,ttG/ttA,LOW,COSM3753457(1),0.0948482,0.0952,rs17224845,,,,,,chr12,68720335,68720335,C,T,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu200Leu/c.600G>A|222|MDM1|protein_coding|CODING|NM_020128.2|3|1),3_prime_UTR_variant(MODIFIER||879|c.*879G>A|69|MDM1|protein_coding|CODING|NM_001205029.1|3|1),intron_variant(MODIFIER|||c.498+102G>A|679|MDM1|protein_coding|CODING|NM_001205028.1|3|1),intron_variant(MODIFIER|||c.498+102G>A|714|MDM1|protein_coding|CODING|NM_017440.4|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0838,0.1153,0.1839,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,MDM1,MISSENSE,NM_017440.4:p.Thr103Ile/c.308C>T,aCt/aTt,MODERATE,COSM4147418(1),0.67512,0.4484,rs962976,,"0.387,0.6,0.368(B,P,B)",0.69(N),-1.0353(T),,chr12,68720627,68720627,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr103Ile/c.308C>T|222|MDM1|protein_coding|CODING|NM_020128.2|3|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr103Ile/c.308C>T|679|MDM1|protein_coding|CODING|NM_001205028.1|3|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr103Ile/c.308C>T|714|MDM1|protein_coding|CODING|NM_017440.4|3|1),3_prime_UTR_variant(MODIFIER||587|c.*587C>T|69|MDM1|protein_coding|CODING|NM_001205029.1|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6401,0.7378,0.7187,0.74,0.79,0.71,,0.207742(N),1.000(P),"1.89,1.89,1.89,1.89(T,T,T,T)",0.0000(T),0.145,1.873951,5.25,0.256,0.561000,0.077000,-0.119000,0.745000,0.008000,0.004000,6.4461
synonymous_variant,MDM1,SILENT,NM_017440.4:p.Ser23Ser/c.69C>A,tcC/tcA,LOW,COSM3998925(1),0.67492,0.4474,rs3741808,,,,,,chr12,68724951,68724951,G,T,hom,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser23Ser/c.69C>A|679|MDM1|protein_coding|CODING|NM_001205028.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser23Ser/c.69C>A|69|MDM1|protein_coding|CODING|NM_001205029.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser23Ser/c.69C>A|714|MDM1|protein_coding|CODING|NM_017440.4|2|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser23Ser/c.69C>A|222|MDM1|protein_coding|CODING|NM_020128.2|2|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.637,0.7378,0.7187,0.74,0.79,0.71,,,,,,,,,,,,,,,,
synonymous_variant,NUP107,SILENT,NM_020401.2:p.Arg24Arg/c.72G>A,cgG/cgA,LOW,,0.220647,0.3065,rs2259588,,,,,,chr12,69082805,69082805,G,A,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg24Arg/c.72G>A|925|NUP107|protein_coding|CODING|NM_020401.2|2|1),"HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2",,,,0.2249,0.2983,0.2903,0.21,0.09,0.27,,,,,,,,,,,,,,,,
synonymous_variant,NUP107,SILENT,NM_020401.2:p.Gln463Gln/c.1389G>A,caG/caA,LOW,,0.219848,0.2996,rs17851475,,,,,,chr12,69115698,69115698,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln463Gln/c.1389G>A|925|NUP107|protein_coding|CODING|NM_020401.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.226,0.2968,0.2922,0.21,0.09,0.27,,,,,,,,,,,,,,,,
synonymous_variant,CPM,SILENT,NM_001005502.2:p.Tyr139Tyr/c.417T>C,taT/taC,LOW,,0.491014,0.5179,rs2228654,,,,,,chr12,69265578,69265578,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr139Tyr/c.417T>C|443|CPM|protein_coding|CODING|NM_001005502.2|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr139Tyr/c.417T>C|443|CPM|protein_coding|CODING|NM_001874.4|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr139Tyr/c.417T>C|443|CPM|protein_coding|CODING|NM_198320.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.5419,0.5879,0.5825,0.50,0.34,0.58,,,,,,,,,,,,,,,,
synonymous_variant,CPSF6,SILENT,NM_001300947.1:p.Arg118Arg/c.354G>A,cgG/cgA,LOW,,0.428714,0.4395,rs2305641,,,,,,chr12,69646914,69646914,G,A,hom,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg118Arg/c.354G>A|588|CPSF6|protein_coding|CODING|NM_001300947.1|3|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg118Arg/c.354G>A|551|CPSF6|protein_coding|CODING|NM_007007.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3783,0.4236,0.4284,0.44,0.45,0.44,,,,,,,,,,,,,,,,
synonymous_variant,FRS2,SILENT,NM_001042555.2:p.Ala218Ala/c.654G>A,gcG/gcA,LOW,COSM3753462(3),0.463059,0.2708,rs547497,,,,,,chr12,69967862,69967862,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_001042555.2|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_001278351.1|11|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_001278353.1|11|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_001278354.1|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_001278355.1|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_001278356.1|9|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_001278357.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala218Ala/c.654G>A|508|FRS2|protein_coding|CODING|NM_006654.4|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.5303,0.4662,0.48,0.49,0.48,,,,,,,,,,,,,,,,
missense_variant,BEST3,MISSENSE,NM_001282614.1:p.Pro383Leu/c.1148C>T,cCa/cTa,MODERATE,COSM3998928(1),0.137979,0.2341,rs61747221,0.1(T),0.032(B),,-0.8302(T),,chr12,70037520,70037520,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro383Leu/c.1148C>T|398|BEST3|protein_coding|CODING|NM_001282614.1|10|1),,,,,0.1022,0.062,0.0875,,,,,,1.000(P),-4.78(D),0.0013(T),0.096,1.086090,3.74,-0.249,-0.137000,-0.057000,0.112000,0.003000,0.000000,0.000000,3.8985
missense_variant,BEST3,MISSENSE,NM_032735.2:p.Glu622Gly/c.1865A>G,gAa/gGa,MODERATE,COSM147565(1),0.0433307,0.0099,rs17106884,0.09(T),"0.002,0.007(B,B)",1.1(L),-0.2986(T),,chr12,70048829,70048829,T,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu516Gly/c.1547A>G|562|BEST3|protein_coding|CODING|NM_001282613.1|8|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu622Gly/c.1865A>G|668|BEST3|protein_coding|CODING|NM_032735.2|10|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu409Gly/c.1226A>G|455|BEST3|protein_coding|CODING|NM_152439.3|6|1),intron_variant(MODIFIER|||c.1101-11262A>G|398|BEST3|protein_coding|CODING|NM_001282614.1|9|1)",,,,,0.0204,0.0432,0.0388,0.05,0.07,0.03,,0.058858(N),0.996(N),"-4.43,-4.74,-4.71(D,D,D)",0.2421(T),0.322,2.575692,5.53,5.53,0.460000,2.095000,0.750000,0.592000,0.022000,0.002000,10.87
synonymous_variant,BEST3,SILENT,NM_032735.2:p.Val49Val/c.147A>G,gtA/gtG,LOW,,0.973243,1,rs386612947,,,,,,chr12,70091432,70091432,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val49Val/c.147A>G|398|BEST3|protein_coding|CODING|NM_001282614.1|2|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val49Val/c.147A>G|668|BEST3|protein_coding|CODING|NM_032735.2|2|1),intron_variant(MODIFIER|||c.-72+1553A>G|562|BEST3|protein_coding|CODING|NM_001282613.1|1|1),intron_variant(MODIFIER|||c.-72+1553A>G|72|BEST3|protein_coding|CODING|NM_001282615.1|1|1),intron_variant(MODIFIER|||c.-167+1553A>G|72|BEST3|protein_coding|CODING|NM_001282616.1|1|1)",,,,,1,0.9928,1,0.98,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PTPRB,SILENT,NM_001109754.2:p.Asp2031Asp/c.6093T>C,gaT/gaC,LOW,,0.980032,0.999,rs582954,,,,,,chr12,70928724,70928724,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2031Asp/c.6093T>C|2215|PTPRB|protein_coding|CODING|NM_001109754.2|30|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1723Asp/c.5169T>C|1907|PTPRB|protein_coding|CODING|NM_001206971.1|27|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1723Asp/c.5169T>C|1907|PTPRB|protein_coding|CODING|NM_001206972.1|27|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1813Asp/c.5439T>C|1997|PTPRB|protein_coding|CODING|NM_002837.4|28|1)","HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.9867,0.9611,0.9423,0.96,0.99,0.95,,,,,,,,,,,,,,,,
synonymous_variant,PTPRB,SILENT,NM_001109754.2:p.Pro1666Pro/c.4998C>T,ccC/ccT,LOW,,0.00998403,0,rs75994780,,,,,,chr12,70949085,70949085,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1666Pro/c.4998C>T|2215|PTPRB|protein_coding|CODING|NM_001109754.2|20|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1358Pro/c.4074C>T|1907|PTPRB|protein_coding|CODING|NM_001206971.1|17|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1358Pro/c.4074C>T|1907|PTPRB|protein_coding|CODING|NM_001206972.1|17|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1448Pro/c.4344C>T|1997|PTPRB|protein_coding|CODING|NM_002837.4|18|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3",,,,0.0051,0.0231,0.0268,0.02,0.00,0.03,,,,,,,,,,,,,,,,
missense_variant,PTPRB,MISSENSE,NM_001109754.2:p.Gly180Ser/c.538G>A,Ggc/Agc,MODERATE,,0.0197684,0,rs7298147,0.86(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.695(N),-0.9139(T),,chr12,71016340,71016340,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly180Ser/c.538G>A|2215|PTPRB|protein_coding|CODING|NM_001109754.2|3|1),HUVEC:H3K36me3,,,,0.0256,0.0216,0.0507,0.05,0.01,0.07,,,1.000(N),"4.27,4.28,3.77(T,T,T)",0.0005(T),0.033,-0.472110,5.72,2.04,-0.254000,0.112000,0.393000,0.002000,0.000000,0.004000,5.7236
synonymous_variant,PTPRB,SILENT,NM_001109754.2:p.Ser74Ser/c.222T>C,tcT/tcC,LOW,,0.0257588,0,rs74101511,,,,,,chr12,71029680,71029680,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser74Ser/c.222T>C|2215|PTPRB|protein_coding|CODING|NM_001109754.2|2|1),"HUVEC:H3K4me3,HUVEC:H3K36me3,HUVEC:H3K9ac,HUVEC:DNase1,HUVEC:H3K4me2,HUVEC:H3K27ac",,,,0.0256,0.0202,0.0318,0.05,0.05,0.05,,,,,,,,,,,,,,,,
missense_variant,PTPRR,MISSENSE,NM_002849.3:p.Val439Ile/c.1315G>A,Gta/Ata,MODERATE,,0.0161741,0,rs35390084,0.31(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0.77(N),-1.0275(T),,chr12,71078528,71078528,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val327Ile/c.979G>A|545|PTPRR|protein_coding|CODING|NM_001207015.1|8|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val233Ile/c.697G>A|451|PTPRR|protein_coding|CODING|NM_001207016.1|6|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val439Ile/c.1315G>A|657|PTPRR|protein_coding|CODING|NM_002849.3|9|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val194Ile/c.580G>A|412|PTPRR|protein_coding|CODING|NM_130846.2|5|1),non_coding_exon_variant(MODIFIER|||n.808G>A||PTPRR||CODING|NR_073474.1|4|1)",,,,,0.0286,0.0086,0.0457,0.04,0.01,0.05,,0.926709(N),1.000(N),"1.59,1.59,1.59,1.59,1.59,2.29(T,T,T,T,T,T)",0.0072(T),0.141,2.046178,5.74,0.559,0.563000,0.147000,-0.423000,0.993000,0.994000,0.220000,11.36
missense_variant,TSPAN8,MISSENSE,NM_004616.2:p.Ser213Ala/c.637T>G,Tca/Gca,MODERATE,,0.250799,0.2877,rs1051334,1(T),0.0(B),-2.935(N),-0.9573(T),,chr12,71523134,71523134,A,C,het,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser213Ala/c.637T>G|237|TSPAN8|protein_coding|CODING|NM_004616.2|8|1),,,,,0.2526,0.2291,0.3986,0.34,0.19,0.41,,0.000003(N),1.000(P),"-1.04,-1.04,-1.04,-1.04(T,T,T,T)",0.0000(T),0.059,0.001031,5.77,4.88,-0.121000,0.895000,1.278000,0.964000,0.992000,0.994000,12.0304
missense_variant,TSPAN8,MISSENSE,NM_004616.2:p.Gly73Ala/c.218G>C,gGa/gCa,MODERATE,COSM1364054(3),0.227037,0.2847,rs3763978,0.01(D),0.989(D),3.59(H),-1.6730(T),,chr12,71533534,71533534,C,G,het,missense_variant(MODERATE|MISSENSE|gGa/gCa|p.Gly73Ala/c.218G>C|237|TSPAN8|protein_coding|CODING|NM_004616.2|4|1),HUVEC:H3K27me3,,,,0.2526,0.2233,0.3956,0.31,0.11,0.41,,0.000000(D),0.000(P),"-3.52,-3.52,-3.52(D,D,D)",0.0000(T),0.381,3.884505,5.09,5.09,0.655000,2.525000,4.362000,0.509000,1.000000,0.999000,16.3635
synonymous_variant,LGR5,SILENT,NM_003667.3:p.Gln294Gln/c.882G>A,caG/caA,LOW,,0.872005,0.995,rs1797372,,,,,,chr12,71960208,71960208,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln270Gln/c.810G>A|883|LGR5|protein_coding|CODING|NM_001277226.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln222Gln/c.666G>A|835|LGR5|protein_coding|CODING|NM_001277227.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln294Gln/c.882G>A|907|LGR5|protein_coding|CODING|NM_003667.3|9|1),non_coding_exon_variant(MODIFIER|||n.1193G>A||LGR5||CODING|NR_110596.1|9|1)",HepG2:H3K36me3,,,,0.9458,0.9611,0.9841,0.87,0.63,0.98,,,,,,,,,,,,,,,,
synonymous_variant,ZFC3H1,SILENT,NM_144982.4:p.Ala1641Ala/c.4923T>C,gcT/gcC,LOW,,0.510383,0.1825,rs1298463,,,,,,chr12,72013832,72013832,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1641Ala/c.4923T>C|1989|ZFC3H1|protein_coding|CODING|NM_144982.4|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5613,0.7176,0.7366,0.67,0.48,0.75,,,,,,,,,,,,,,,,
missense_variant,ZFC3H1,MISSENSE,NM_144982.4:p.Leu369Val/c.1105C>G,Cta/Gta,MODERATE,,,,,0.55(T),0.012(B),0.805(L),-1.0748(T),,chr12,72038831,72038831,G,C,het,missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu369Val/c.1105C>G|1989|ZFC3H1|protein_coding|CODING|NM_144982.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.001436(N),1.000(D),0.85(T),0.0636(T),0.169,1.781478,5.58,3.78,-0.143000,0.735000,0.862000,0.930000,0.548000,0.985000,2.0411
synonymous_variant,TBC1D15,SILENT,NM_022771.4:p.Gln454Gln/c.1362A>G,caA/caG,LOW,COSM3753485(1),0.665735,0.8819,rs3759171,,,,,,chr12,72307616,72307616,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln437Gln/c.1311A>G|674|TBC1D15|protein_coding|CODING|NM_001146213.1|12|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln445Gln/c.1335A>G|682|TBC1D15|protein_coding|CODING|NM_001146214.1|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln454Gln/c.1362A>G|691|TBC1D15|protein_coding|CODING|NM_022771.4|13|1),non_coding_exon_variant(MODIFIER|||n.1175A>G||TBC1D15||CODING|NR_027449.1|11|1)","HSMM:H3K36me3,HepG2:H3K36me3",,,,0.5613,0.5634,0.2674,0.47,0.85,0.28,,,,,,,,,,,,,,,,
synonymous_variant,TPH2,SILENT,NM_173353.3:p.Pro312Pro/c.936A>G,ccA/ccG,LOW,COSM3753488(1),0.541733,0.4494,rs7305115,,,,,,chr12,72372862,72372862,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro312Pro/c.936A>G|490|TPH2|protein_coding|CODING|NM_173353.3|7|1),HMEC:H3K27me3,,,,0.5501,0.4856,0.5825,0.58,0.59,0.58,,,,,,,,,,,,,,,,
synonymous_variant,TPH2,SILENT,NM_173353.3:p.Ala375Ala/c.1125A>T,gcA/gcT,LOW,COSM3753489(2),0.48722,0.4663,rs4290270,,,,,,chr12,72416235,72416235,A,T,hom,synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala375Ala/c.1125A>T|490|TPH2|protein_coding|CODING|NM_173353.3|9|1),,,,,0.5051,0.4899,0.6233,0.57,0.42,0.64,,,,,,,,,,,,,,,,
synonymous_variant,TRHDE,SILENT,NM_013381.2:p.Ile623Ile/c.1869C>T,atC/atT,LOW,,0.0189696,0,rs79522035,,,,,,chr12,72956782,72956782,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile623Ile/c.1869C>T|1024|TRHDE|protein_coding|CODING|NM_013381.2|9|1),,,,,0.0266,0.0317,0.0467,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ATXN7L3B,SILENT,NM_001136262.1:p.Leu89Leu/c.267G>C,ctG/ctC,LOW,COSM4147452(1),0.669329,0.9058,rs590352,,,,,,chr12,74932159,74932159,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu89Leu/c.267G>C|97|ATXN7L3B|protein_coding|CODING|NM_001136262.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H4K16ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K56ac,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,CD4:H4K12ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,CD4:H2BK12ac",,,,0.8149,0.7824,0.7793,0.62,0.31,0.75,,,,,,,,,,,,,,,,
missense_variant,CAPS2,MISSENSE,NM_032606.3:p.Leu125Phe/c.375G>T,ttG/ttT,MODERATE,COSM1135438(2),0.199081,0.2321,rs10879901,0(D),"0.989,0.989(D,D)",1.2(L),-1.0550(T),,chr12,75715330,75715330,C,A,het,"missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu75Phe/c.225G>T|475|CAPS2|protein_coding|CODING|NM_001286547.1|5|1),missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu125Phe/c.375G>T|557|CAPS2|protein_coding|CODING|NM_032606.3|6|1),5_prime_UTR_variant(MODIFIER||8683|c.-350G>T|382|CAPS2|protein_coding|CODING|NM_001286548.1|6|1),5_prime_UTR_variant(MODIFIER||29740|c.-619G>T|204|CAPS2|protein_coding|CODING|NM_001286549.1|2|1)",,,,,0.1554,0.1686,0.2535,,,,,0.005349(N),0.000(P),"1.14,0.55,0.15,0.09(T,T,T,T)",0.0001(T),0.361,2.848855,5.15,-1.26,-0.253000,-0.482000,-0.135000,0.620000,0.960000,0.960000,5.7983
synonymous_variant,NAP1L1,SILENT,NM_004537.4:p.Lys157Lys/c.471A>G,aaA/aaG,LOW,,0.920128,0.999,rs1059143,,,,,,chr12,76449900,76449900,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys157Lys/c.471A>G|391|NAP1L1|protein_coding|CODING|NM_004537.4|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys157Lys/c.471A>G|391|NAP1L1|protein_coding|CODING|NM_139207.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9427,0.8631,0.8062,0.86,0.94,0.81,,,,,,,,,,,,,,,,
synonymous_variant,NAP1L1,SILENT,NM_004537.4:p.His100His/c.300C>T,caC/caT,LOW,,0.586462,0.9554,rs4663,,,,,,chr12,76453966,76453966,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His100His/c.300C>T|391|NAP1L1|protein_coding|CODING|NM_004537.4|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His100His/c.300C>T|391|NAP1L1|protein_coding|CODING|NM_139207.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.636,0.6182,0.5905,0.51,0.32,0.60,,,,,,,,,,,,,,,,
synonymous_variant,E2F7,SILENT,NM_203394.2:p.Val675Val/c.2025T>G,gtT/gtG,LOW,,0.0463259,0,rs35158210,,,,,,chr12,77421778,77421778,A,C,het,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val675Val/c.2025T>G|911|E2F7|protein_coding|CODING|NM_203394.2|11|1),"CD4:H2AZ,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0115,0.0099,0.05,0.12,0.01,,,,,,,,,,,,,,,,
missense_variant,E2F7,MISSENSE,NM_203394.2:p.Phe72Leu/c.214T>C,Ttt/Ctt,MODERATE,,0.855631,0.998,rs310791,1(T),"0.0,0.0(B,B)",-1.5(N),-0.9313(T),,chr12,77449790,77449790,A,G,hom,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe72Leu/c.214T>C|911|E2F7|protein_coding|CODING|NM_203394.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.911,0.889,0.8956,0.84,0.72,0.90,,0.006676(N),1.000(P),"-1.83,-1.83,-1.83,-1.83(D,D,D,D)",0.0000(T),0.234,-0.752455,5.7,5.7,-0.128000,1.421000,3.374000,0.058000,0.706000,1.000000,6.2629
missense_variant,NAV3,MISSENSE,NM_001024383.1:p.Thr45Ala/c.133A>G,Act/Gct,MODERATE,,0.975439,1,rs10735309,1(T),"0.0,0.0(B,B)",-0.55(N),-0.9397(T),,chr12,78225374,78225374,A,G,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr45Ala/c.133A>G|2385|NAV3|protein_coding|CODING|NM_001024383.1|1|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr45Ala/c.133A>G|2363|NAV3|protein_coding|CODING|NM_014903.5|1|1)",,,,,1,0.987,1,0.97,0.92,1.00,,,0.000(P),"0.32,0.32,0.32,0.32,0.32(T,T,T,T,T)",0.0000(T),0.121,0.022669,5.55,4.51,-0.119000,0.546000,0.981000,0.995000,0.998000,0.995000,4.0176
synonymous_variant,NAV3,SILENT,NM_001024383.1:p.Ala108Ala/c.324A>G,gcA/gcG,LOW,,0.0223642,0,rs17817265,,,,,,chr12,78334179,78334179,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala108Ala/c.324A>G|2385|NAV3|protein_coding|CODING|NM_001024383.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala108Ala/c.324A>G|2363|NAV3|protein_coding|CODING|NM_014903.5|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,IMR90:H2BK120ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,HSMM:H3K27ac,HSMM:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,IMR90:H2BK12ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HSMM:H3K4me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.0092,0.0216,0.0427,0.03,0.03,0.04,,,,,,,,,,,,,,,,
synonymous_variant,NAV3,SILENT,NM_001024383.1:p.Pro522Pro/c.1566G>A,ccG/ccA,LOW,COSM147567(3),0.148562,0.2143,rs34276383,,,,,,chr12,78400884,78400884,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro522Pro/c.1566G>A|2385|NAV3|protein_coding|CODING|NM_001024383.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro522Pro/c.1566G>A|2363|NAV3|protein_coding|CODING|NM_014903.5|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2035,0.1095,0.1322,0.12,0.11,0.13,,,,,,,,,,,,,,,,
synonymous_variant,NAV3,SILENT,NM_001024383.1:p.Gln1488Gln/c.4464G>A,caG/caA,LOW,COSM3998955(1),0.61222,0.5565,rs1852464,,,,-1.1256(T),,chr12,78530979,78530979,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1488Gln/c.4464G>A|2385|NAV3|protein_coding|CODING|NM_001024383.1|19|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1488Gln/c.4464G>A|2363|NAV3|protein_coding|CODING|NM_014903.5|19|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4632,0.6052,0.5954,0.66,0.75,0.62,,,0.000(P),,0.0000(T),.,-0.897977,5.76,-7.26,-2.095000,-2.031000,0.745000,0.093000,0.459000,1.000000,19.4193
synonymous_variant,NAV3,SILENT,NM_001024383.1:p.Pro2337Pro/c.7011G>A,ccG/ccA,LOW,,0.635783,0.8006,rs9971904,,,,-1.0211(T),,chr12,78598891,78598891,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2337Pro/c.7011G>A|2385|NAV3|protein_coding|CODING|NM_001024383.1|39|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2315Pro/c.6945G>A|2363|NAV3|protein_coding|CODING|NM_014903.5|38|1)","HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.7055,0.585,0.4334,0.46,0.58,0.40,,,0.000(P),,0.0000(T),.,-1.483281,5.3,-4.56,-4.833000,-1.079000,0.050000,0.000000,0.381000,0.831000,3.6867
synonymous_variant,SYT1,SILENT,NM_001135805.1:p.Asn25Asn/c.75C>T,aaC/aaT,LOW,COSM4147474(1),0.625799,0.4603,rs2037743,,,,,,chr12,79611374,79611374,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn25Asn/c.75C>T|422|SYT1|protein_coding|CODING|NM_001135805.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn25Asn/c.75C>T|422|SYT1|protein_coding|CODING|NM_001135806.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn25Asn/c.75C>T|419|SYT1|protein_coding|CODING|NM_001291901.1|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn25Asn/c.75C>T|422|SYT1|protein_coding|CODING|NM_005639.2|4|1)",H1ESC:Yy1,,,,0.454,0.7233,0.6869,0.72,0.78,0.69,,,,,,,,,,,,,,,,
synonymous_variant,PAWR,SILENT,NM_002583.2:p.Ile199Ile/c.597T>A,atT/atA,LOW,COSM3753503(2),0.516773,0.5139,rs2307223,,,,-0.9830(T),,chr12,80014907,80014907,A,T,hom,synonymous_variant(LOW|SILENT|atT/atA|p.Ile199Ile/c.597T>A|340|PAWR|protein_coding|CODING|NM_002583.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5542,0.7363,0.8171,0.77,0.34,0.99,,,1.000(D),,0.0000(T),.,-1.710624,5.52,4.62,-0.127000,0.798000,0.076000,0.199000,0.926000,0.115000,5.5514
missense_variant,OTOGL,MISSENSE,NM_173591.3:p.Ile1134Val/c.3400A>G,Att/Gtt,MODERATE,,0.00219649,0,rs117462138,1(T),,-1.345(N),-0.9837(T),,chr12,80704484,80704484,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1134Val/c.3400A>G|2344|OTOGL|protein_coding|CODING|NM_173591.3|29|1),,,,,0.002,0.0014,0.008,0.00,0.00,0.00,,,1.000(N),"-0.92,-0.92(T,T)",0.0657(T),0.034,-0.457240,6.06,0.396,-0.137000,0.133000,0.976000,0.929000,0.962000,1.000000,8.403
synonymous_variant,OTOGL,SILENT,NM_173591.3:p.Pro1234Pro/c.3702G>A,ccG/ccA,LOW,,0.948482,0.9573,rs10778725,,,,,,chr12,80712420,80712420,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1234Pro/c.3702G>A|2344|OTOGL|protein_coding|CODING|NM_173591.3|32|1),,,,,0.9294,0.902,0.9821,0.97,0.96,0.98,,,,,,,,,,,,,,,,
synonymous_variant,OTOGL,SILENT,NM_173591.3:p.Asn1689Asn/c.5067T>C,aaT/aaC,LOW,,0.494808,0.6935,rs10778727,,,,-0.9649(T),,chr12,80735771,80735771,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1689Asn/c.5067T>C|2344|OTOGL|protein_coding|CODING|NM_173591.3|43|1),,,,,0.5624,0.4885,0.6451,0.53,0.29,0.64,,,0.000(P),,0.0000(T),.,0.956673,5.06,2.69,0.528000,0.875000,0.264000,0.991000,1.000000,0.997000,5.3719
missense_variant,OTOGL,MISSENSE,NM_173591.3:p.Ile1840Val/c.5518A>G,Att/Gtt,MODERATE,,0.834065,0.8056,rs7297767,0.57(T),,0.805(L),-0.9823(T),,chr12,80747242,80747242,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1840Val/c.5518A>G|2344|OTOGL|protein_coding|CODING|NM_173591.3|45|1),"HUVEC:DNase1,HSMM:DNase1,NHEK:DNase1",,,,0.8834,0.8285,0.8539,0.85,0.81,0.86,,,0.000(P),"-1.11,-1.11(T,T)",0.0000(T),0.094,0.843147,5.74,0.8,0.533000,0.114000,0.995000,0.743000,0.576000,0.229000,10.3954
missense_variant,OTOGL,MISSENSE,NM_173591.3:p.Ile2074Val/c.6220A>G,Att/Gtt,MODERATE,,0.964457,1,rs2034528,1(T),0.0(B),-0.69(N),-0.9570(T),,chr12,80752660,80752660,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile2074Val/c.6220A>G|2344|OTOGL|protein_coding|CODING|NM_173591.3|51|1),,,,,0.9489,0.9582,0.9324,0.94,0.96,0.92,,0.353073(N),1.000(P),"2.46,2.46,2.33,1.01(T,T,T,T)",0.0000(T),0.101,-1.234069,5.36,0.351,-0.186000,-0.116000,0.494000,0.904000,0.397000,0.099000,10.1091
missense_variant,OTOGL,MISSENSE,NM_173591.3:p.Ala2132Thr/c.6394G>A,Gct/Act,MODERATE,,0.678115,0.7619,rs1551118,1(T),0.001(B),-1.91(N),-1.0074(T),,chr12,80761430,80761430,G,A,hom,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala2132Thr/c.6394G>A|2344|OTOGL|protein_coding|CODING|NM_173591.3|53|1),,,,,0.8037,0.7046,0.832,0.72,0.48,0.84,,0.018556(N),1.000(P),"2.53,2.53,2.39,1.04(T,T,T,T)",0.0000(T),0.232,0.043578,5.53,2.95,-0.352000,0.433000,2.201000,0.849000,0.273000,0.998000,7.602
synonymous_variant,OTOGL,SILENT,NM_173591.3:p.Thr2143Thr/c.6429G>A,acG/acA,LOW,COSM4147484(1),0.96865,1,rs2717482,,,,-1.0237(T),,chr12,80761465,80761465,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr2143Thr/c.6429G>A|2344|OTOGL|protein_coding|CODING|NM_173591.3|53|1),,,,,0.9499,0.9582,0.9324,0.94,0.98,0.92,,,0.000(P),,0.0000(T),.,0.861736,5.53,1.81,-0.352000,-0.103000,0.897000,0.960000,0.969000,1.000000,1.9178
missense_variant,OTOGL,MISSENSE,NM_173591.3:p.Asn2237Ser/c.6710A>G,aAt/aGt,MODERATE,COSM3931748(1),0.484026,0.7024,rs1551122,,,2.14(M),-0.9867(T),,chr12,80765800,80765800,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn2237Ser/c.6710A>G|2344|OTOGL|protein_coding|CODING|NM_173591.3|56|1),splice_region_variant(LOW|||c.6710A>G|2344|OTOGL|protein_coding|CODING|NM_173591.3|56|1)",,,,,0.6074,0.4798,0.6461,0.50,0.22,0.64,,,0.000(P),,0.0000(T),.,3.789085,5.98,5.98,0.482000,2.289000,5.331000,0.932000,1.000000,1.000000,16.143
synonymous_variant,OTOGL,SILENT,NM_173591.3:p.Thr2340Thr/c.7020G>A,acG/acA,LOW,,0.683107,0.7629,rs2717477,,,,-0.9644(T),,chr12,80771813,80771813,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr2340Thr/c.7020G>A|2344|OTOGL|protein_coding|CODING|NM_173591.3|58|1),,,,,0.8149,0.7046,0.832,0.72,0.50,0.84,,,0.000(P),,0.0000(T),.,0.380669,5.72,-11.4,-2.483000,-1.931000,-1.556000,0.688000,0.696000,0.000000,0.2809
missense_variant,PTPRQ,MISSENSE,NM_001145026.1:p.Val473Asp/c.1418T>A,gTt/gAt,MODERATE,,0.7502,0.4117,rs10778752,,,,-0.9799(T),,chr12,80889829,80889829,T,A,hom,missense_variant(MODERATE|MISSENSE|gTt/gAt|p.Val473Asp/c.1418T>A|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|10|1),,,,,0.8671,0.8473,0.9145,0.89,0.77,0.94,,,0.000(P),,0.0000(T),.,3.281363,5.93,5.93,0.533000,2.281000,4.443000,0.971000,0.996000,1.000000,10.6842
missense_variant,PTPRQ,MISSENSE,NM_001145026.1:p.Gln619Lys/c.1855C>A,Caa/Aaa,MODERATE,COSM468960(1),0.426717,0.3601,rs11114486,0.96(T),,,-0.9103(T),,chr12,80899901,80899901,C,A,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln619Lys/c.1855C>A|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|12|1),HSMM:H3K36me3,,,,0.6748,0.5591,0.6451,,,,,,0.952(P),0.46(T),0.0000(T),0.446,-0.257704,5.87,4.96,0.585000,1.437000,0.841000,0.998000,1.000000,0.998000,11.0804
missense_variant,PTPRQ,MISSENSE,NM_001145026.1:p.Val647Gly/c.1940T>G,gTa/gGa,MODERATE,COSM1135444(1),0.291933,0.0516,rs7965277,,0.0(B),,-0.8975(T),,chr12,80900348,80900348,T,G,het,"missense_variant(MODERATE|MISSENSE|gTa/gGa|p.Val647Gly/c.1940T>G|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|13|1),splice_region_variant(LOW|||c.1940T>G|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|13|1)",HSMM:H3K36me3,,,,0.1922,0.2767,0.2724,0.34,0.50,0.27,,,0.243(P),0.85(T),0.0000(T),0.883,0.847930,5.3,4.41,-0.187000,0.732000,2.385000,0.244000,1.000000,1.000000,10.1713
synonymous_variant,PTPRQ,SILENT,NM_001145026.1:p.Leu663Leu/c.1989C>G,ctC/ctG,LOW,,0.460463,0.3601,rs12824064,,,,,,chr12,80900397,80900397,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu663Leu/c.1989C>G|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|13|1),HSMM:H3K36me3,,,,0.6748,0.5764,0.6451,0.55,0.27,0.66,,,1.000(P),,,.,0.618031,5.44,1.37,0.591000,0.319000,-1.699000,0.993000,0.934000,0.000000,2.8721
missense_variant,PTPRQ,MISSENSE,NM_001145026.1:p.Phe884Leu/c.2650T>C,Ttt/Ctt,MODERATE,COSM3753507(2),0.397963,0.2192,rs6539524,0.6(T),0.0(B),,-0.9758(T),,chr12,80935345,80935345,T,C,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe884Leu/c.2650T>C|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|18|1),,,,,0.228,0.3069,0.2783,0.41,0.71,0.28,,,1.000(P),1.35(T),0.0000(T),0.552,0.223162,5.89,-5.06,-0.119000,-1.392000,-0.877000,0.996000,0.042000,0.028000,3.4758
missense_variant,PTPRQ,MISSENSE,NM_001145026.1:p.Asn1030Asp/c.3088A>G,Aat/Gat,MODERATE,,0.114018,0,rs17713202,,,,-1.0952(T),,chr12,80936026,80936026,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn1030Asp/c.3088A>G|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|19|1),,,,,0.0879,0.1354,0.175,0.16,0.14,0.17,,,0.961(P),,0.0004(T),.,1.944970,5.59,1.79,0.482000,0.057000,3.769000,0.874000,0.986000,1.000000,7.9852
synonymous_variant,PTPRQ,SILENT,NM_001145026.1:p.Ala1048Ala/c.3144C>T,gcC/gcT,LOW,COSM3753508(1),0.397963,0.2192,rs11114503,,,,-0.9888(T),,chr12,80936082,80936082,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1048Ala/c.3144C>T|2127|PTPRQ|protein_coding|CODING|NM_001145026.1|19|1),,,,,0.228,0.3069,0.2783,0.41,0.71,0.28,,,0.000(P),,0.0000(T),.,0.749000,5.59,-2.67,-1.120000,-0.504000,0.137000,0.981000,0.989000,0.997000,1.3022
synonymous_variant,ACSS3,SILENT,NM_024560.2:p.Ala459Ala/c.1377G>A,gcG/gcA,LOW,COSM3753509(1),0.0161741,0,rs61742651,,,,,,chr12,81610702,81610702,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala459Ala/c.1377G>A|686|ACSS3|protein_coding|CODING|NM_024560.2|10|1),"HepG2:H3K36me3,NHEK:DNase1",,,,0.0041,0.0274,0.0547,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,METTL25,MISSENSE,NM_032230.2:p.Ser67Ala/c.199T>G,Tcg/Gcg,MODERATE,,0.0423323,0.002,rs112592060,0.8(T),0.0(B),-0.55(N),-1.0314(T),,chr12,82752543,82752543,T,G,het,"missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser67Ala/c.199T>G|603|METTL25|protein_coding|CODING|NM_032230.2|1|1),upstream_gene_variant(MODIFIER||344||241|CCDC59|protein_coding|CODING|NM_014167.4||1),non_coding_exon_variant(MODIFIER|||n.42A>C||CCDC59||CODING|NR_033192.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,GM12878:MEF2C,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:SP1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:CTCFL,HMEC:CTCF,HUVEC:Cmyc,GM12878:MEF2A,GM12878:EBF,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,NH-A:CTCF,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,CD4:CTCF,CD4:H4K5ac,HepG2:CTCF,GM12878:Rad21,CD4:H3K4ac,HepG2:H3K9ac,HeLa-S3:Cfos,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,K562:HEY1,GM12878:PU1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,IMR90:H4K8ac,GM06990:CTCF",,,,0.0654,0.0591,0.0805,0.07,0.03,0.09,,0.504215(N),1.000(N),1.56(T),0.0013(T),0.017,-0.701842,3.86,0.59,-0.219000,0.280000,0.707000,0.116000,0.014000,0.016000,6.1071
missense_variant,METTL25,MISSENSE,NM_032230.2:p.Leu72Arg/c.215T>G,cTg/cGg,MODERATE,COSM4147495(1),0.0423323,0.002,rs113882703,0.38(T),0.0(B),-1.43(N),-1.0527(T),,chr12,82752559,82752559,T,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu72Arg/c.215T>G|603|METTL25|protein_coding|CODING|NM_032230.2|1|1),upstream_gene_variant(MODIFIER||360||241|CCDC59|protein_coding|CODING|NM_014167.4||1),non_coding_exon_variant(MODIFIER|||n.26A>C||CCDC59||CODING|NR_033192.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,GM12878:MEF2C,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:SP1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:CTCFL,HMEC:CTCF,HUVEC:Cmyc,GM12878:MEF2A,GM12878:EBF,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,CD4:CTCF,CD4:H4K5ac,HepG2:CTCF,GM12878:Rad21,CD4:H3K4ac,HepG2:H3K9ac,HeLa-S3:Cfos,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,K562:HEY1,GM12878:PU1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,IMR90:H4K8ac,GM06990:CTCF",,,,0.0654,0.0591,0.0805,0.07,0.03,0.09,,0.124811(N),0.987(N),1.49(T),0.0008(T),0.081,0.093403,5.0,-5.17,-0.767000,-0.704000,.,0.019000,0.000000,.,1.2997
synonymous_variant,METTL25,SILENT,NM_032230.2:p.Ile166Ile/c.498C>T,atC/atT,LOW,,0.926118,1,rs10778908,,,,-1.0098(T),,chr12,82783668,82783668,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile166Ile/c.498C>T|603|METTL25|protein_coding|CODING|NM_032230.2|3|1),CD4:H3K36me3,,,,0.9959,0.9568,0.9573,0.91,0.82,0.96,,,0.000(P),,0.0000(T),.,0.584091,5.77,1.23,-0.282000,0.305000,0.257000,0.822000,0.992000,0.922000,6.0898
synonymous_variant,METTL25,SILENT,NM_032230.2:p.Thr208Thr/c.624C>T,acC/acT,LOW,COSM4147496(1),0.0423323,0.002,rs10506872,,,,-1.1523(T),,chr12,82792666,82792666,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr208Thr/c.624C>T|603|METTL25|protein_coding|CODING|NM_032230.2|4|1),,,,,0.0644,0.0591,0.0805,0.07,0.03,0.10,,,1.000(D),,0.0072(T),.,0.603078,5.3,0.871,-1.128000,-0.274000,0.943000,0.953000,0.941000,1.000000,7.0117
missense_variant,METTL25,MISSENSE,NM_032230.2:p.Gln249Lys/c.745C>A,Caa/Aaa,MODERATE,,0.926318,1,rs4296098,0.91(T),0.007(B),1.59(L),-0.9028(T),,chr12,82792787,82792787,C,A,hom,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln249Lys/c.745C>A|603|METTL25|protein_coding|CODING|NM_032230.2|4|1),,,,,0.9959,0.9568,0.9583,0.91,0.82,0.96,,0.934167(N),1.000(P),1.57(T),0.0000(T),0.055,-0.625805,5.39,3.5,0.580000,0.719000,1.281000,0.141000,0.003000,0.018000,10.675
synonymous_variant,METTL25,SILENT,NM_032230.2:p.Pro300Pro/c.900A>G,ccA/ccG,LOW,,0.0423323,0.002,rs10506873,,,,,,chr12,82792942,82792942,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro300Pro/c.900A>G|603|METTL25|protein_coding|CODING|NM_032230.2|4|1),,,,,0.0644,0.0591,0.0805,0.07,0.03,0.10,,,,,,,,,,,,,,,,
missense_variant,SLC6A15,MISSENSE,NM_018057.6:p.Asp278Val/c.833A>T,gAt/gTt,MODERATE,COSM3753513(1),0.0746805,0,rs17183577,0(D),0.0(B),,-1.0653(T),,chr12,85277561,85277561,T,A,het,"missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp278Val/c.833A>T|289|SLC6A15|protein_coding|CODING|NM_018057.6|5|1),intron_variant(MODIFIER|||c.435+77A>T|623|SLC6A15|protein_coding|CODING|NM_001146335.2|4|1),intron_variant(MODIFIER|||c.756+77A>T|730|SLC6A15|protein_coding|CODING|NM_182767.5|5|1)","HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.0286,0.1599,0.2266,0.15,0.04,0.21,,,1.000(P),-0.33(T),0.0001(T),0.054,0.705915,4.95,-0.422,-1.427000,-0.439000,0.510000,0.002000,0.000000,0.000000,1.2642
synonymous_variant,SLC6A15,SILENT,NM_018057.6:p.Leu262Leu/c.786G>A,ctG/ctA,LOW,,0.110224,0.002,rs17183612,,,,,,chr12,85277608,85277608,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu262Leu/c.786G>A|289|SLC6A15|protein_coding|CODING|NM_018057.6|5|1),intron_variant(MODIFIER|||c.435+30G>A|623|SLC6A15|protein_coding|CODING|NM_001146335.2|4|1),intron_variant(MODIFIER|||c.756+30G>A|730|SLC6A15|protein_coding|CODING|NM_182767.5|5|1)","HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.0818,0.2219,0.3042,0.22,0.06,0.30,,,,,,,,,,,,,,,,
synonymous_variant,LRRIQ1,SILENT,NM_001079910.1:p.Val298Val/c.894T>A,gtT/gtA,LOW,COSM3998975(1),0.595248,0.4514,rs7974418,,,,,,chr12,85449465,85449465,T,A,het,synonymous_variant(LOW|SILENT|gtT/gtA|p.Val298Val/c.894T>A|1722|LRRIQ1|protein_coding|CODING|NM_001079910.1|8|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.3916,0.5533,0.5239,0.63,0.85,0.51,,,,,,,,,,,,,,,,
missense_variant,LRRIQ1,MISSENSE,NM_001079910.1:p.Val1639Ile/c.4915G>A,Gtt/Att,MODERATE,,,,rs371519477,0.16(T),0.044(B),0.55(N),-1.0464(T),,chr12,85623387,85623387,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1639Ile/c.4915G>A|1722|LRRIQ1|protein_coding|CODING|NM_001079910.1|25|1),,,,,,,,0.00,0.00,0.00,,,0.998(N),0.43(T),0.0882(T),0.203,2.025444,5.6,4.71,0.650000,1.508000,1.776000,0.960000,0.998000,1.000000,10.0291
missense_variant,C12orf50,MISSENSE,NM_152589.1:p.Gln306Arg/c.917A>G,cAg/cGg,MODERATE,COSM3753519(1),0.303115,0.0565,rs10777084,0.8(T),"0.001,0.001(B,B)",-0.77(N),-1.0141(T),,chr12,88380094,88380094,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln306Arg/c.917A>G|414|C12orf50|protein_coding|CODING|NM_152589.1|10|1),,,,,0.1922,0.1383,0.0994,0.31,0.69,0.12,,0.125548(N),1.000(P),"1.65,1.65(T,T)",0.0000(T),0.035,-3.085134,6.01,-0.245,-1.748000,-0.326000,-0.089000,0.001000,0.022000,0.000000,6.5806
missense_variant,C12orf29,MISSENSE,NM_001009894.2:p.Val238Leu/c.712G>C,Gtg/Ctg,MODERATE,COSM3753520(1),0.510583,0.7361,rs9262,0.54(T),0.001(B),-0.69(N),-0.9998(T),,chr12,88440676,88440676,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val238Leu/c.712G>C|325|C12orf29|protein_coding|CODING|NM_001009894.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6247,0.562,0.6083,0.47,0.24,0.59,,0.139750(N),1.000(P),1.64(T),0.0000(T),0.033,0.901337,5.53,-4.2,-0.346000,-0.739000,-1.166000,0.990000,0.503000,0.000000,9.2016
synonymous_variant,CEP290,SILENT,NM_025114.3:p.Lys1373Lys/c.4119A>G,aaA/aaG,LOW,,0.0227636,0.001,rs117122459,,,,,,chr12,88481632,88481632,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1373Lys/c.4119A>G|2479|CEP290|protein_coding|CODING|NM_025114.3|32|1),"HUVEC:H3K36me3,K562:H3K36me3",,RCV000114197.2,,0.0603,0.0274,0.0338,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,CEP290,MISSENSE,NM_025114.3:p.Lys838Glu/c.2512A>G,Aaa/Gaa,MODERATE,COSM3753521(2),0.0970447,0.2133,rs11104738,1(T),0.0(B),-0.49(N),-0.9682(T),,chr12,88500847,88500847,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys838Glu/c.2512A>G|2479|CEP290|protein_coding|CODING|NM_025114.3|24|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000086982.2|RCV000114189.2,,0.1074,0.1499,0.0487,0.03,0.02,0.04,,0.000228(N),0.000(P),"2.32,2.32(T,T)",0.0000(T),0.088,-0.525563,5.67,4.77,-0.467000,1.356000,2.903000,0.606000,0.998000,1.000000,8.9454
synonymous_variant,CEP290,SILENT,NM_025114.3:p.Ser756Ser/c.2268A>G,tcA/tcG,LOW,,0.764577,0.9673,rs2468255,,,,,,chr12,88505078,88505078,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser756Ser/c.2268A>G|2479|CEP290|protein_coding|CODING|NM_025114.3|22|1),"NHEK:CTCF,HeLa-S3:DNase1,CD4:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,GM12878:Rad21,HepG2:H3K36me3,NHEK:H3K4me2,HMEC:DNase1,HepG2:Rad21,NHEK:DNase1",,RCV000114186.2,,0.9059,0.8804,0.9225,0.77,0.43,0.92,,,,,,,,,,,,,,,,
missense_variant,CEP290,MISSENSE,NM_025114.3:p.Val462Ile/c.1384G>A,Gtc/Atc,MODERATE,,,,rs374199052,0.55(T),"0.041,0.041(B,B)",1.01(L),-0.9090(T),,chr12,88514029,88514029,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val462Ile/c.1384G>A|2479|CEP290|protein_coding|CODING|NM_025114.3|15|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,,,,0.00,0.00,0.00,,0.000012(D),1.000(D),"-0.12,-0.16(T,T)",0.1774(T),0.352,1.958723,5.51,5.51,0.650000,2.593000,3.201000,0.979000,0.998000,1.000000,19.4111
synonymous_variant,TMTC3,SILENT,NM_181783.3:p.His133His/c.399T>C,caT/caC,LOW,,0.9998,1,rs2468230,,,,,,chr12,88547277,88547277,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His133His/c.399T>C|914|TMTC3|protein_coding|CODING|NM_181783.3|3|1),,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,KITLG,MISSENSE,NM_000899.4:p.Asp210Tyr/c.628G>T,Gac/Tac,MODERATE,,0.00399361,0,rs41283112,0.04(D),"0.964,0.979(D,D)",1.7(L),-0.9811(T),,chr12,88900891,88900891,C,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp210Tyr/c.628G>T|273|KITLG|protein_coding|CODING|NM_000899.4|7|1),missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp182Tyr/c.544G>T|245|KITLG|protein_coding|CODING|NM_003994.5|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0031,0.0101,0.0099,0.01,0.00,0.02,,0.005616(N),0.979(N),"-0.27,-0.27(T,T)",0.0618(T),0.27,3.317419,5.68,2.84,0.655000,0.735000,1.040000,0.359000,0.041000,0.712000,3.7484
synonymous_variant,DUSP6,SILENT,NM_001946.3:p.Asp318Asp/c.954C>T,gaC/gaT,LOW,,0.985024,1,rs704075,,,,,,chr12,89743223,89743223,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp318Asp/c.954C>T|381|DUSP6|protein_coding|CODING|NM_001946.3|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp172Asp/c.516C>T|235|DUSP6|protein_coding|CODING|NM_022652.3|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,HepG2:H3K4me2,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,HMEC:H3K36me3,NHEK:H4K20me1,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K79me2",,,,1,0.9928,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,GALNT4,MISSENSE,NM_003774.4:p.Val506Ile/c.1516G>A,Gta/Ata,MODERATE,COSM3753525(1),0.205272,0.1369,rs2230283,0.06(T),"0.753,0.794(P,P)",1.89(L),-1.0659(T),,chr12,89916811,89916811,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val334Ile/c.1000G>A|406|POC1B-GALNT4|protein_coding|CODING|NM_001199782.1|3|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val503Ile/c.1507G>A|575|POC1B-GALNT4|protein_coding|CODING|NM_001199781.1|3|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val506Ile/c.1516G>A|578|GALNT4|protein_coding|CODING|NM_003774.4|1|1),intron_variant(MODIFIER|||n.467+2086G>A||POC1B||CODING|NR_037659.1|2|1),intron_variant(MODIFIER|||n.448+2086G>A||POC1B||CODING|NR_037660.1|1|1),intron_variant(MODIFIER|||c.-27+2086G>A|436|POC1B|protein_coding|CODING|NM_001199777.1|1|1),intron_variant(MODIFIER|||c.100+2086G>A|478|POC1B|protein_coding|CODING|NM_172240.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1667,0.2435,0.3529,0.29,0.18,0.34,,,0.000(P),"1.41,1.41,1.41(T,T,T)",0.0000(T),0.181,4.430637,5.93,5.93,0.591000,2.814000,7.429000,0.991000,0.220000,1.000000,19.3377
missense_variant,GALNT4,MISSENSE,NM_003774.4:p.Ile270Thr/c.809T>C,aTa/aCa,MODERATE,,0.733626,0.7361,rs2230281,0.24(T),"0.0,0.0(B,B)",-1.7(N),-0.9853(T),,chr12,89917518,89917518,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile267Thr/c.800T>C|575|POC1B-GALNT4|protein_coding|CODING|NM_001199781.1|3|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile270Thr/c.809T>C|578|GALNT4|protein_coding|CODING|NM_003774.4|1|1),intron_variant(MODIFIER|||n.467+1379T>C||POC1B||CODING|NR_037659.1|2|1),intron_variant(MODIFIER|||n.448+1379T>C||POC1B||CODING|NR_037660.1|1|1),intron_variant(MODIFIER|||c.-27+1379T>C|436|POC1B|protein_coding|CODING|NM_001199777.1|1|1),intron_variant(MODIFIER|||c.100+1379T>C|478|POC1B|protein_coding|CODING|NM_172240.2|2|1),intron_variant(MODIFIER|||c.361-68T>C|406|POC1B-GALNT4|protein_coding|CODING|NM_001199782.1|2|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.7894,0.6513,0.7217,0.73,0.76,0.72,,,0.000(P),"0.14,0.14(T,T)",0.0000(T),0.084,0.330207,5.56,4.59,-0.119000,1.366000,5.606000,0.959000,0.874000,1.000000,11.5105
synonymous_variant,ATP2B1,SILENT,NM_001682.2:p.Glu178Glu/c.534A>G,gaA/gaG,LOW,,0.120807,0.0317,rs1050395,,,,,,chr12,90028901,90028901,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu178Glu/c.534A>G|1176|ATP2B1|protein_coding|CODING|NM_001001323.1|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu178Glu/c.534A>G|1220|ATP2B1|protein_coding|CODING|NM_001682.2|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.0808,0.1455,0.1928,0.18,0.16,0.19,,,,,,,,,,,,,,,,
synonymous_variant,KERA,SILENT,NM_007035.3:p.Val23Val/c.69G>A,gtG/gtA,LOW,,0.620008,0.7976,rs2735333,,,,,,chr12,91449990,91449990,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val23Val/c.69G>A|352|KERA|protein_coding|CODING|NM_007035.3|2|1),NHEK:H3K27me3,,,,0.7035,0.7046,0.7962,0.63,0.35,0.78,,,,,,,,,,,,,,,,
synonymous_variant,CLLU1,SILENT,NM_001025233.1:p.Lys110Lys/c.330A>G,aaA/aaG,LOW,COSM4147513(1),0.690495,0.6766,rs1515565,,,,,,chr12,92818786,92818786,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys110Lys/c.330A>G|121|CLLU1|protein_coding|CODING|NM_001025233.1|1|1),intron_variant(MODIFIER|||n.306-368A>G||CLLU1||CODING|NR_027932.1|1|1),intron_variant(MODIFIER|||n.305+3175A>G||CLLU1||CODING|NR_027933.1|1|1),intron_variant(MODIFIER|||c.53-2374T>C|101|CLLU1OS|protein_coding|CODING|NM_001025232.1|1|1)","H1ESC:H3K27ac,H1ESC:H4K5ac",,,,0.6585,0.536,0.5199,0.63,0.86,0.52,,,,,,,,,,,,,,,,
missense_variant,PLEKHG7,MISSENSE,NM_001004330.2:p.Asp99Gly/c.296A>G,gAc/gGc,MODERATE,,0.0177716,0,rs17790310,0.35(T),0.993(D),2.215(M),-0.7517(T),,chr12,93139348,93139348,A,G,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp99Gly/c.296A>G|379|PLEKHG7|protein_coding|CODING|NM_001004330.2|5|1),"HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.0225,0.0274,0.0447,0.04,0.01,0.06,,0.000115(D),1.000(D),-0.08(T),0.0776(T),0.276,4.215419,5.21,5.21,0.528000,2.087000,8.162000,0.897000,0.910000,1.000000,15.0379
synonymous_variant,PLEKHG7,SILENT,NM_001004330.2:p.Pro119Pro/c.357A>T,ccA/ccT,LOW,COSM3753531(2),0.652756,0.8919,rs9669519,,,,,,chr12,93147907,93147907,A,T,hom,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro119Pro/c.357A>T|379|PLEKHG7|protein_coding|CODING|NM_001004330.2|6|1),"HUVEC:Max,GM12878:H3K36me3,HUVEC:DNase1,K562:H3K27me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.635,0.7017,0.4861,0.51,0.56,0.49,,,,,,,,,,,,,,,,
missense_variant,PLEKHG7,MISSENSE,NM_001004330.2:p.Met212Thr/c.635T>C,aTg/aCg,MODERATE,COSM3753532(1),0.647564,0.8919,rs924326,1(T),0.0(B),0.14(N),-0.9458(T),,chr12,93150102,93150102,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met212Thr/c.635T>C|379|PLEKHG7|protein_coding|CODING|NM_001004330.2|8|1),GM12878:H3K36me3,,,,0.637,0.7017,0.4871,0.51,0.54,0.49,,0.022734(N),1.000(P),1.56(T),0.0000(T),0.041,-1.585935,4.92,1.11,-1.280000,-0.061000,-0.625000,0.272000,0.983000,0.000000,1.0247
synonymous_variant,PLEKHG7,SILENT,NM_001004330.2:p.Thr236Thr/c.708G>A,acG/acA,LOW,,0.851038,0.9494,rs1504907,,,,,,chr12,93155535,93155535,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr236Thr/c.708G>A|379|PLEKHG7|protein_coding|CODING|NM_001004330.2|9|1),,,,,0.7894,0.8674,0.8459,0.82,0.80,0.83,,,,,,,,,,,,,,,,
missense_variant,EEA1,MISSENSE,NM_003566.3:p.Lys810Gln/c.2428A>C,Aaa/Caa,MODERATE,COSM3753533(1),0.705471,0.9405,rs10745623,0.33(T),0.006(B),0(N),-1.0125(T),,chr12,93196422,93196422,T,G,hom,missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys810Gln/c.2428A>C|1411|EEA1|protein_coding|CODING|NM_003566.3|19|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7853,0.7752,0.6292,0.59,0.53,0.63,,0.460191(N),1.000(P),-1.08(T),0.0000(T),0.076,-0.780529,5.65,-7.99,-1.614000,-1.421000,-0.160000,0.007000,0.000000,0.000000,9.0371
synonymous_variant,EEA1,SILENT,NM_003566.3:p.Glu777Glu/c.2331G>A,gaG/gaA,LOW,COSM3753534(2),0.46845,0.8681,rs7970286,,,,,,chr12,93202801,93202801,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu777Glu/c.2331G>A|1411|EEA1|protein_coding|CODING|NM_003566.3|18|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5378,0.5245,0.3569,0.30,0.21,0.35,,,,,,,,,,,,,,,,
splice_donor_variant,LOC643339,,NR_040096.1:n.330T>C,,HIGH,,0.336462,0.376,rs7976742,,,,,,chr12,93721801,93721801,A,G,het,"splice_donor_variant(HIGH|||n.330T>C||LOC643339||NON_CODING|NR_040096.1|2|1),intron_variant(MODIFIER|||n.329+2T>C||LOC643339||NON_CODING|NR_040096.1|2|1)",,,,,0.3517,0.4409,0.3658,,,,,,,,,,,,,,,,,,,
missense_variant,CRADD,MISSENSE,NM_003805.3:p.Ile35Val/c.103A>G,Atc/Gtc,MODERATE,,0.00658946,0,rs52807869,0.42(T),"0.004,0.014(B,B)",1.255(L),-0.9747(T),,chr12,94072653,94072653,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile35Val/c.103A>G|199|CRADD|protein_coding|CODING|NM_003805.3|2|1),"K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K4me2",,,,0.0031,0.0115,0.0219,0.02,0.00,0.03,,0.000314(N),0.998(D),"2.96,2.96,2.96,2.96,2.96,2.96(T,T,T,T,T,T)",0.0074(T),0.058,1.665583,5.19,1.7,-0.274000,0.051000,1.956000,0.902000,0.998000,0.995000,8.5782
synonymous_variant,PLXNC1,SILENT,NM_005761.2:p.Tyr253Tyr/c.759C>T,taC/taT,LOW,COSM1562414(5),0.451478,0.4831,rs2230754,,,,,,chr12,94543506,94543506,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr253Tyr/c.759C>T|1568|PLXNC1|protein_coding|CODING|NM_005761.2|1|1),"CD4:H2AZ,H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,GM12878:H3K9ac,GM06990:DNase1",,,,0.4305,0.4654,0.34,0.39,0.43,0.36,,,,,,,,,,,,,,,,
synonymous_variant,PLXNC1,SILENT,NM_005761.2:p.Thr944Thr/c.2832A>G,acA/acG,LOW,,0.608626,0.7411,rs2230757,,,,,,chr12,94645255,94645255,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr944Thr/c.2832A>G|1568|PLXNC1|protein_coding|CODING|NM_005761.2|15|1),"GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5358,0.6974,0.5706,0.56,0.58,0.55,,,,,,,,,,,,,,,,
synonymous_variant,CEP83,SILENT,NM_001042399.1:p.Arg279Arg/c.837T>C,cgT/cgC,LOW,,0.833666,0.9633,rs4761611,,,,,,chr12,94769758,94769758,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg279Arg/c.837T>C|701|CEP83|protein_coding|CODING|NM_001042399.1|7|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg279Arg/c.837T>C|701|CEP83|protein_coding|CODING|NM_016122.2|8|1)","K562:H3K36me3,NHEK:H3K36me3",,,,0.7055,0.7767,0.667,0.73,0.93,0.65,,,,,,,,,,,,,,,,
synonymous_variant,TMCC3,SILENT,NM_020698.3:p.Glu337Glu/c.1011G>A,gaG/gaA,LOW,COSM432006(2),0.519968,0.4653,rs2270893,,,,,,chr12,94972290,94972290,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu306Glu/c.918G>A|446|TMCC3|protein_coding|CODING|NM_001301036.1|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu337Glu/c.1011G>A|477|TMCC3|protein_coding|CODING|NM_020698.3|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5225,0.5634,0.5378,0.53,0.52,0.54,,,,,,,,,,,,,,,,
synonymous_variant,TMCC3,SILENT,NM_020698.3:p.Phe198Phe/c.594C>T,ttC/ttT,LOW,COSM3753541(1),0.687101,0.5972,rs3747553,,,,,,chr12,94975799,94975799,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe167Phe/c.501C>T|446|TMCC3|protein_coding|CODING|NM_001301036.1|2|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe198Phe/c.594C>T|477|TMCC3|protein_coding|CODING|NM_020698.3|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6748,0.5965,0.5746,0.65,0.84,0.56,,,,,,,,,,,,,,,,
synonymous_variant,TMCC3,SILENT,NM_020698.3:p.Ala103Ala/c.309A>G,gcA/gcG,LOW,COSM3753542(1),0.699281,0.6002,rs3747552,,,,,,chr12,94976084,94976084,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala72Ala/c.216A>G|446|TMCC3|protein_coding|CODING|NM_001301036.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala103Ala/c.309A>G|477|TMCC3|protein_coding|CODING|NM_020698.3|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.683,0.6095,0.5775,0.67,0.86,0.56,,,,,,,,,,,,,,,,
missense_variant,TMCC3,MISSENSE,NM_020698.3:p.Tyr16Asp/c.46T>G,Tac/Gac,MODERATE,COSM3749233(8),0.995407,0.999,rs1274523,0.23(T),0.0(B),-0.345(N),-1.0034(T),,chr12,95044161,95044161,A,C,hom,missense_variant(MODERATE|MISSENSE|Tac/Gac|p.Tyr16Asp/c.46T>G|477|TMCC3|protein_coding|CODING|NM_020698.3|1|1),"NHEK:H3K9ac,NHEK:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,GM12878:PolII,IMR90:H3K27me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.9918,0.9957,0.9901,,,,,0.524376(N),0.000(P),1.64(T),0.0000(T),0.186,1.684496,4.95,4.07,-0.333000,0.527000,1.836000,0.434000,0.975000,0.998000,7.3281
synonymous_variant,FGD6,SILENT,NM_018351.3:p.Leu654Leu/c.1962C>T,ctC/ctT,LOW,,0.0495208,0.0109,rs17023760,,,,,,chr12,95603098,95603098,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu654Leu/c.1962C>T|1430|FGD6|protein_coding|CODING|NM_018351.3|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0828,0.0375,0.0467,0.05,0.06,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FGD6,SILENT,NM_018351.3:p.Gly171Gly/c.513G>A,ggG/ggA,LOW,,0.0489217,0.0109,rs4762288,,,,,,chr12,95604547,95604547,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly171Gly/c.513G>A|1430|FGD6|protein_coding|CODING|NM_018351.3|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.0828,0.036,0.0467,0.05,0.06,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FGD6,SILENT,NM_018351.3:p.Val132Val/c.396T>C,gtT/gtC,LOW,,0.047524,0.0109,rs4762289,,,,,,chr12,95604664,95604664,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val132Val/c.396T>C|1430|FGD6|protein_coding|CODING|NM_018351.3|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.0828,0.036,0.0467,0.05,0.05,0.05,,,,,,,,,,,,,,,,
missense_variant,VEZT,MISSENSE,NM_017599.3:p.Thr162Ala/c.484A>G,Act/Gct,MODERATE,,0.0722843,0.001,rs17855933,0.37(T),"0.003,0.004,0.003,0.003(B,B,B,B)",0.205(N),-1.0899(T),,chr12,95660182,95660182,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr162Ala/c.484A>G|779|VEZT|protein_coding|CODING|NM_017599.3|5|1),non_coding_exon_variant(MODIFIER|||n.662A>G||VEZT||CODING|NR_038241.1|6|1),non_coding_exon_variant(MODIFIER|||n.585A>G||VEZT||CODING|NR_038242.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.0893,0.1074,0.09,0.07,0.10,,0.002285(N),0.666(P),"0.99,0.94,0.99,0.89,0.94,0.99(T,T,T,T,T,T)",0.0011(T),0.216,-0.102452,5.39,2.88,0.528000,2.023000,1.007000,0.024000,0.991000,0.747000,4.0882
missense_variant,VEZT,MISSENSE,NM_017599.3:p.Val496Ile/c.1486G>A,Gtc/Atc,MODERATE,,0.0301518,0.0109,rs10507051,0.23(T),0.206(B),1.905(M),-1.1200(T),,chr12,95681597,95681597,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val496Ile/c.1486G>A|779|VEZT|protein_coding|CODING|NM_017599.3|9|1),non_coding_exon_variant(MODIFIER|||n.1664G>A||VEZT||CODING|NR_038241.1|10|1),non_coding_exon_variant(MODIFIER|||n.1599G>A||VEZT||CODING|NR_038242.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.0231,0.0427,0.03,0.01,0.04,,0.000003(D),1.000(D),"2.16,2.16,2.17(T,T,T)",0.0130(T),0.208,4.663524,5.6,4.71,0.655000,1.377000,5.991000,0.986000,1.000000,1.000000,14.2932
missense_variant,VEZT,MISSENSE,NM_017599.3:p.Ser668Ala/c.2002T>G,Tct/Gct,MODERATE,,0.0734824,0.001,rs17855934,0.29(T),0.0(B),0.345(N),-1.0042(T),,chr12,95694111,95694111,T,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser668Ala/c.2002T>G|779|VEZT|protein_coding|CODING|NM_017599.3|12|1),non_coding_exon_variant(MODIFIER|||n.2180T>G||VEZT||CODING|NR_038241.1|13|1),non_coding_exon_variant(MODIFIER|||n.2115T>G||VEZT||CODING|NR_038242.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0808,0.0908,0.1074,0.10,0.08,0.10,,0.003681(N),1.000(P),"2.54,2.54,2.54(T,T,T)",0.0004(T),0.043,-0.315303,6.02,4.15,-0.182000,0.872000,0.984000,0.380000,0.215000,0.014000,6.6237
missense_variant,VEZT,MISSENSE,NM_017599.3:p.Gly762Asp/c.2285G>A,gGt/gAt,MODERATE,,0.756589,0.6627,rs14121,1(T),0.0(B),-2.045(N),-0.9904(T),,chr12,95694394,95694394,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly762Asp/c.2285G>A|779|VEZT|protein_coding|CODING|NM_017599.3|12|1),non_coding_exon_variant(MODIFIER|||n.2463G>A||VEZT||CODING|NR_038241.1|13|1),non_coding_exon_variant(MODIFIER|||n.2398G>A||VEZT||CODING|NR_038242.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7137,0.6859,0.6839,0.78,0.92,0.71,,0.000000(N),0.992(P),"3.67,3.64,3.63(T,T,T)",0.0000(T),0.259,-0.331318,5.65,5.65,-0.269000,0.972000,5.981000,0.722000,0.998000,1.000000,11.7614
missense_variant,USP44,MISSENSE,NM_001042403.2:p.Thr91Ala/c.271A>G,Aca/Gca,MODERATE,,0.716054,0.7242,rs3812813,1(T),0.001(B),-1.155(N),-0.9645(T),,chr12,95927762,95927762,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr91Ala/c.271A>G|712|USP44|protein_coding|CODING|NM_001042403.2|2|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr91Ala/c.271A>G|712|USP44|protein_coding|CODING|NM_001278393.1|2|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr91Ala/c.271A>G|712|USP44|protein_coding|CODING|NM_032147.4|2|1),non_coding_exon_variant(MODIFIER|||n.341A>G||USP44||CODING|NR_125360.1|1|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.6748,0.7089,0.5577,0.63,0.80,0.54,,0.000006(N),0.999(P),"1.61,1.61,1.61,1.61,1.61,1.61(T,T,T,T,T,T)",0.0000(T),0.176,-0.207916,5.12,4.22,-0.215000,0.647000,1.532000,0.964000,0.971000,0.980000,9.6068
synonymous_variant,NTN4,SILENT,NM_021229.3:p.Ala452Ala/c.1356G>A,gcG/gcA,LOW,COSM3753544(1),0.116813,0,rs17851048,,,,,,chr12,96077312,96077312,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala452Ala/c.1356G>A|628|NTN4|protein_coding|CODING|NM_021229.3|6|1),"GM06990:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1186,0.2104,0.2952,0.20,0.06,0.27,,,,,,,,,,,,,,,,
synonymous_variant,CCDC38,SILENT,NM_182496.2:p.Phe533Phe/c.1599T>C,ttT/ttC,LOW,,0.314297,0.2014,rs7960706,,,,,,chr12,96260947,96260947,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe533Phe/c.1599T>C|563|CCDC38|protein_coding|CODING|NM_182496.2|16|1),downstream_gene_variant(MODIFIER||709||86|SNRPF|protein_coding|CODING|NM_003095.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4918,0.3112,0.3767,0.36,0.27,0.41,,,,,,,,,,,,,,,,
synonymous_variant,CCDC38,SILENT,NM_182496.2:p.Ala277Ala/c.831T>C,gcT/gcC,LOW,,0.754393,0.745,rs6538681,,,,,,chr12,96284650,96284650,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala277Ala/c.831T>C|563|CCDC38|protein_coding|CODING|NM_182496.2|9|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7526,0.536,0.7058,0.76,0.88,0.70,,,,,,,,,,,,,,,,
missense_variant,CCDC38,MISSENSE,NM_182496.2:p.Met227Val/c.679A>G,Atg/Gtg,MODERATE,COSM4147529(1),0.245208,0.4236,rs10859974,0.25(T),0.0(B),-1.15(N),-0.9146(T),,chr12,96288860,96288860,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met227Val/c.679A>G|563|CCDC38|protein_coding|CODING|NM_182496.2|8|1),HUVEC:H3K27me3,,,,0.1534,0.1282,0.1988,0.21,0.27,0.17,,0.001117(N),0.000(P),3.02(T),0.0000(T),0.047,0.616850,5.23,-1.62,-0.536000,-0.122000,-0.095000,0.355000,0.987000,0.738000,0.3596
missense_variant,CCDC38,MISSENSE,NM_182496.2:p.Val203Leu/c.607G>C,Gtg/Ctg,MODERATE,,0.0563099,0.0278,rs75959092,0.83(T),0.046(B),0.865(L),-0.9433(T),,chr12,96292170,96292170,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val203Leu/c.607G>C|563|CCDC38|protein_coding|CODING|NM_182496.2|7|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0654,0.0706,0.1342,0.09,0.02,0.12,,0.016743(N),0.992(P),3.17(T),0.0001(T),0.039,0.350137,5.4,0.671,-0.424000,0.055000,-0.125000,0.024000,0.129000,0.010000,4.7641
missense_variant,CCDC38,MISSENSE,NM_182496.2:p.Val36Phe/c.106G>T,Gtc/Ttc,MODERATE,,0.066893,0.0278,rs12368787,0.62(T),0.0(B),-0.975(N),-1.0159(T),,chr12,96312686,96312686,C,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val36Phe/c.106G>T|563|CCDC38|protein_coding|CODING|NM_182496.2|3|1),"NHEK:CTCF,HUVEC:H3K27me3,K562:CTCF,HUVEC:CTCF,NH-A:H3K27me3,HeLa-S3:CTCF,HMEC:CTCF,NHEK:H3K27me3",,,,0.0654,0.0749,0.1372,0.10,0.05,0.12,,0.003681(N),0.000(P),1.7(T),0.0002(T),0.098,-0.156872,4.85,4.85,-0.363000,0.983000,2.491000,0.856000,1.000000,1.000000,8.8974
missense_variant,AMDHD1,MISSENSE,NM_152435.2:p.Ser3Gly/c.7A>G,Agc/Ggc,MODERATE,COSM3749234(5),0.71845,0.9554,rs7955450,0.41(T),0.0(B),-0.805(N),-1.0044(T),,chr12,96337183,96337183,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser3Gly/c.7A>G|426|AMDHD1|protein_coding|CODING|NM_152435.2|1|1),upstream_gene_variant(MODIFIER||755||563|CCDC38|protein_coding|CODING|NM_182496.2||1)","NHEK:CTCF,HSMM:H2AZ,HeLa-S3:DNase1,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,HMEC:CTCF,HeLa-S3:PolII,K562:H3K27me3,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF,GM12878:H2AZ",,,,0.6391,0.6888,0.6004,,,,,0.361153(N),1.000(P),1.52(T),0.0000(T),0.067,0.286982,4.39,-8.69,-1.140000,-2.316000,-0.592000,0.134000,0.000000,0.000000,1.8829
synonymous_variant,AMDHD1,SILENT,NM_152435.2:p.Leu17Leu/c.49C>T,Ctg/Ttg,LOW,COSM3749235(1),0.254792,0.4732,rs1436121,,,,,,chr12,96337225,96337225,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu17Leu/c.49C>T|426|AMDHD1|protein_coding|CODING|NM_152435.2|1|1),upstream_gene_variant(MODIFIER||797||563|CCDC38|protein_coding|CODING|NM_182496.2||1)","NHEK:CTCF,HSMM:H2AZ,HeLa-S3:DNase1,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,HMEC:CTCF,HeLa-S3:PolII,K562:H3K27me3,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF,GM12878:H2AZ",,,,0.3517,0.1297,0.2445,0.15,0.09,0.18,,,,,,,,,,,,,,,,
synonymous_variant,AMDHD1,SILENT,NM_152435.2:p.Ile79Ile/c.237T>C,atT/atC,LOW,,0.254593,0.4673,rs1982138,,,,,,chr12,96346594,96346594,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile79Ile/c.237T>C|426|AMDHD1|protein_coding|CODING|NM_152435.2|2|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.3579,0.1225,0.2455,0.20,0.13,0.24,,,,,,,,,,,,,,,,
missense_variant,HAL,MISSENSE,NM_002108.3:p.Val439Ile/c.1315G>A,Gtt/Att,MODERATE,,0.911142,0.9514,rs7297245,1(T),"0.001,0.001(B,B)",-1.35(N),-0.9284(T),,chr12,96374614,96374614,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val231Ile/c.691G>A|449|HAL|protein_coding|CODING|NM_001258333.1|15|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val439Ile/c.1315G>A|591|HAL|protein_coding|CODING|NM_001258334.1|16|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val439Ile/c.1315G>A|657|HAL|protein_coding|CODING|NM_002108.3|16|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.9029,0.879,0.7952,0.84,0.96,0.79,,0.000000(N),1.000(P),"-0.94,-0.94,-0.94(T,T,T)",0.0000(T),0.083,-0.619947,5.95,4.8,-0.254000,0.503000,2.160000,0.215000,0.947000,0.994000,10.6886
missense_variant,TMPO,MISSENSE,NM_003276.2:p.Gln599Glu/c.1795C>G,Caa/Gaa,MODERATE,,0.0589058,0.001,rs17459334,0.14(T),0.45(P),0.695(N),-1.0630(T),,chr12,98927830,98927830,C,G,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln599Glu/c.1795C>G|694|TMPO|protein_coding|CODING|NM_003276.2|4|1),intron_variant(MODIFIER|||c.565+2214C>G|454|TMPO|protein_coding|CODING|NM_001032283.2|3|1),intron_variant(MODIFIER|||c.565+2214C>G|345|TMPO|protein_coding|CODING|NM_001032284.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000037747.1|RCV000125552.1,,0.1554,0.0403,0.1093,0.07,0.02,0.10,,0.053734(N),0.000(P),0.24(T),0.0041(T),0.218,2.463925,5.96,5.96,0.655000,2.832000,2.147000,0.995000,1.000000,1.000000,15.9221
missense_variant,IKBIP,MISSENSE,NM_201612.2:p.Gly265Ser/c.793G>A,Ggt/Agt,MODERATE,COSM3753552(1),0.390575,0.3492,rs1048906,1(T),0.001(B),-0.345(N),-0.9086(T),,chr12,99007623,99007623,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly265Ser/c.793G>A|350|IKBIP|protein_coding|CODING|NM_201612.2|3|1),3_prime_UTR_variant(MODIFIER||462|c.*462G>A|70|IKBIP|protein_coding|CODING|NM_201613.2|2|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3814,0.3329,0.2982,0.38,0.50,0.31,,,0.000(P),"1.16,1.3(T,T)",0.0000(T),0.015,-0.489406,5.54,1.86,-1.213000,0.061000,1.688000,0.774000,1.000000,1.000000,9.8834
missense_variant,APAF1,MISSENSE,NM_181861.1:p.Glu625Ala/c.1874A>C,gAg/gCg,MODERATE,,0.00299521,0,rs73142307,0.23(T),"0.005,0.003,0.001,0.002,0.002(B,B,B,B,B)",-0.375(N),-1.0325(T),,chr12,99071283,99071283,A,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu614Ala/c.1841A>C|1194|APAF1|protein_coding|CODING|NM_001160.2|13|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu614Ala/c.1841A>C|1237|APAF1|protein_coding|CODING|NM_013229.2|13|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu625Ala/c.1874A>C|1248|APAF1|protein_coding|CODING|NM_181861.1|13|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu625Ala/c.1874A>C|1205|APAF1|protein_coding|CODING|NM_181868.1|13|1),intron_variant(MODIFIER|||c.955+14699A>C|338|APAF1|protein_coding|CODING|NM_181869.1|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0014,0.0119,0.01,0.00,0.01,,0.685744(N),0.970(N),"0.24,0.24,0.24,0.24,0.24,0.24,0.24(T,T,T,T,T,T,T)",0.0594(T),0.187,1.190726,5.87,3.49,0.533000,0.461000,1.473000,0.995000,1.000000,0.628000,6.3192
synonymous_variant,ANKS1B,SILENT,NM_152788.4:p.Pro614Pro/c.1842A>G,ccA/ccG,LOW,,0.632188,0.9087,rs1552759,,,,,,chr12,99640557,99640557,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro614Pro/c.1842A>G|1248|ANKS1B|protein_coding|CODING|NM_152788.4|13|1),NHEK:H3K27me3,,,,0.8098,0.647,0.6083,0.56,0.36,0.66,,,,,,,,,,,,,,,,
missense_variant,UHRF1BP1L,MISSENSE,NM_015054.1:p.Ser1147Leu/c.3440C>T,tCa/tTa,MODERATE,,0.0605032,0.0179,rs7296162,0.05(D),0.068(B),1.78(L),-1.0328(T),,chr12,100444984,100444984,G,A,het,missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1147Leu/c.3440C>T|1464|UHRF1BP1L|protein_coding|CODING|NM_015054.1|16|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1012,0.0519,0.0696,0.07,0.07,0.08,,0.502521(N),1.000(N),"2.83,2.83(T,T)",0.0021(T),0.152,0.975462,5.03,2.21,-0.142000,0.174000,1.599000,0.286000,0.030000,0.962000,9.3245
synonymous_variant,UHRF1BP1L,SILENT,NM_015054.1:p.Pro741Pro/c.2223G>A,ccG/ccA,LOW,,0.0535144,0.004,rs11832216,,,,,,chr12,100452832,100452832,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro741Pro/c.2223G>A|1464|UHRF1BP1L|protein_coding|CODING|NM_015054.1|14|1),"H1ESC:H3K36me3,HUVEC:DNase1,NH-A:DNase1,HepG2:H3K36me3",,,,0.0624,0.0591,0.0686,0.07,0.08,0.07,,,,,,,,,,,,,,,,
missense_variant,UHRF1BP1L,MISSENSE,NM_015054.1:p.Thr283Ile/c.848C>T,aCa/aTa,MODERATE,,0.0339457,0.004,rs17851246,0.02(D),"0.146,0.09(B,B)",0.69(N),-1.0538(T),,chr12,100482866,100482866,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr283Ile/c.848C>T|522|UHRF1BP1L|protein_coding|CODING|NM_001006947.1|8|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr283Ile/c.848C>T|1464|UHRF1BP1L|protein_coding|CODING|NM_015054.1|8|1)","HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0613,0.0504,0.0686,0.05,0.01,0.07,,0.012609(N),1.000(D),"2.9,1.51(T,T)",0.0054(T),0.101,1.828787,5.02,4.12,0.460000,1.114000,3.614000,0.186000,0.902000,0.990000,13.2532
missense_variant,DEPDC4,MISSENSE,NM_152317.2:p.His122Arg/c.365A>G,cAt/cGt,MODERATE,COSM3752836(1),0.0928514,0,rs7307415,1(T),"0.0,0.0,0.0(B,B,B)",-1.61(N),-1.0507(T),,chr12,100657464,100657464,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His122Arg/c.365A>G|294|DEPDC4|protein_coding|CODING|NM_152317.2|2|1),,,,,0.0072,0.0692,0.0686,0.13,0.24,0.07,,0.026833(N),1.000(P),"2.03,2.03,2.03,2.03(T,T,T,T)",0.0000(T),0.338,-1.824954,4.93,-4.79,-1.032000,-1.661000,0.320000,0.405000,0.059000,0.132000,11.9547
synonymous_variant,SCYL2,SILENT,NM_017988.4:p.Leu723Leu/c.2167C>T,Ctg/Ttg,LOW,,0.236422,0.0585,rs10860580,,,,,,chr12,100732327,100732327,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu723Leu/c.2167C>T|929|SCYL2|protein_coding|CODING|NM_017988.4|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2055,0.1945,0.2674,0.29,0.35,0.26,,,,,,,,,,,,,,,,
synonymous_variant,GAS2L3,SILENT,NM_174942.1:p.Leu288Leu/c.862T>C,Tta/Cta,LOW,COSM3752837(1),0.795527,0.9554,rs1469385,,,,,,chr12,101017445,101017445,T,C,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu288Leu/c.862T>C|694|GAS2L3|protein_coding|CODING|NM_174942.1|10|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7566,0.8588,0.7793,0.74,0.70,0.75,,,,,,,,,,,,,,,,
synonymous_variant,GAS2L3,SILENT,NM_174942.1:p.Asn477Asn/c.1431T>C,aaT/aaC,LOW,COSM147585(2),0.33766,0.2748,rs1045602,,,,,,chr12,101018014,101018014,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn477Asn/c.1431T>C|694|GAS2L3|protein_coding|CODING|NM_174942.1|10|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2628,0.3818,0.5338,0.45,0.29,0.53,,,,,,,,,,,,,,,,
synonymous_variant,GAS2L3,SILENT,NM_174942.1:p.Ser526Ser/c.1578C>T,tcC/tcT,LOW,,0.100639,0.0962,rs1045603,,,,,,chr12,101018161,101018161,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser526Ser/c.1578C>T|694|GAS2L3|protein_coding|CODING|NM_174942.1|10|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0736,0.1427,0.1123,0.09,0.08,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SLC5A8,SILENT,NM_145913.3:p.Tyr554Tyr/c.1662C>T,taC/taT,LOW,COSM3752838(1),0.752995,0.8115,rs2671444,,,,,,chr12,101552075,101552075,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr554Tyr/c.1662C>T|610|SLC5A8|protein_coding|CODING|NM_145913.3|14|1),,,,,0.7178,0.6023,0.6352,0.72,0.87,0.64,,,,,,,,,,,,,,,,
missense_variant,SLC5A8,MISSENSE,NM_145913.3:p.Met490Ile/c.1470G>T,atG/atT,MODERATE,COSM4146467(1),0.260383,0.5437,rs164365,0.49(T),0.002(B),0.805(L),-0.8971(T),,chr12,101560328,101560328,C,A,het,missense_variant(MODERATE|MISSENSE|atG/atT|p.Met490Ile/c.1470G>T|610|SLC5A8|protein_coding|CODING|NM_145913.3|12|1),,,,,0.226,0.1268,0.2485,0.19,0.14,0.22,,0.680659(N),1.000(P),0.02(T),0.0000(T),0.079,-0.865250,4.86,2.95,0.655000,2.530000,0.204000,0.092000,0.751000,0.003000,3.7188
missense_variant,SLC5A8,MISSENSE,NM_145913.3:p.Val193Ile/c.577G>A,Gtt/Att,MODERATE,COSM3998638(1),0.279353,0.5437,rs1709189,0.14(T),0.008(B),0.525(N),-0.9562(T),,chr12,101587518,101587518,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val193Ile/c.577G>A|610|SLC5A8|protein_coding|CODING|NM_145913.3|5|1),,,,,0.2249,0.1268,0.2475,0.21,0.19,0.22,,0.000039(D),0.018(P),-2.3(D),0.0000(T),0.062,2.544870,5.44,3.6,0.655000,1.291000,1.947000,0.994000,1.000000,1.000000,12.0769
synonymous_variant,UTP20,SILENT,NM_014503.2:p.Asn204Asn/c.612C>T,aaC/aaT,LOW,,0.666733,0.5982,rs703715,,,,,,chr12,101683929,101683929,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn204Asn/c.612C>T|2785|UTP20|protein_coding|CODING|NM_014503.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.5836,0.6074,0.68,0.82,0.60,,,,,,,,,,,,,,,,
missense_variant,UTP20,MISSENSE,NM_014503.2:p.Leu1882Gln/c.5645T>A,cTa/cAa,MODERATE,,0.996605,1,rs10082778,0.78(T),0.0(B),-1.05(N),-0.9614(T),,chr12,101750814,101750814,T,A,het,missense_variant(MODERATE|MISSENSE|cTa/cAa|p.Leu1882Gln/c.5645T>A|2785|UTP20|protein_coding|CODING|NM_014503.2|43|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,0.9861,0.99,1.00,0.99,,0.000291(N),0.998(P),1.03(T),0.0000(T),0.056,-0.351992,5.79,4.66,-0.257000,0.477000,4.448000,0.844000,0.065000,1.000000,6.479
synonymous_variant,MYBPC1,SILENT,NM_001254718.1:p.Asp233Asp/c.699C>T,gaC/gaT,LOW,COSM3752841(3),0.294329,0.3879,rs2293468,,,,,,chr12,102036305,102036305,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp233Asp/c.699C>T|1173|MYBPC1|protein_coding|CODING|NM_001254718.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp233Asp/c.699C>T|1146|MYBPC1|protein_coding|CODING|NM_001254719.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp221Asp/c.663C>T|1134|MYBPC1|protein_coding|CODING|NM_001254720.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp214Asp/c.642C>T|1127|MYBPC1|protein_coding|CODING|NM_001254721.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp207Asp/c.621C>T|1120|MYBPC1|protein_coding|CODING|NM_001254722.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp220Asp/c.660C>T|1139|MYBPC1|protein_coding|CODING|NM_001254723.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp258Asp/c.774C>T|1171|MYBPC1|protein_coding|CODING|NM_002465.3|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp258Asp/c.774C>T|1148|MYBPC1|protein_coding|CODING|NM_206819.2|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp233Asp/c.699C>T|1141|MYBPC1|protein_coding|CODING|NM_206820.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp233Asp/c.699C>T|1123|MYBPC1|protein_coding|CODING|NM_206821.2|9|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K4me2,HepG2:DNase1",,RCV000117659.1,,0.2495,0.2493,0.2823,0.29,0.29,0.29,,,,,,,,,,,,,,,,
missense_variant,MYBPC1,MISSENSE,NM_001254718.1:p.His481Gln/c.1443C>G,caC/caG,MODERATE,,0.171126,0.2986,rs3817552,0(D),"0.93,0.999,0.998,0.998,0.997,0.949,0.997,0.999,0.986,0.998,0.999(D,D,D,D,D,D,D,D,D,D,D)",1.54(L),-1.0445(T),,chr12,102045163,102045163,C,G,het,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His481Gln/c.1443C>G|1173|MYBPC1|protein_coding|CODING|NM_001254718.1|14|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His481Gln/c.1443C>G|1146|MYBPC1|protein_coding|CODING|NM_001254719.1|14|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His469Gln/c.1407C>G|1134|MYBPC1|protein_coding|CODING|NM_001254720.1|13|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His462Gln/c.1386C>G|1127|MYBPC1|protein_coding|CODING|NM_001254721.1|13|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His455Gln/c.1365C>G|1120|MYBPC1|protein_coding|CODING|NM_001254722.1|12|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His468Gln/c.1404C>G|1139|MYBPC1|protein_coding|CODING|NM_001254723.1|13|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His506Gln/c.1518C>G|1171|MYBPC1|protein_coding|CODING|NM_002465.3|16|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His506Gln/c.1518C>G|1148|MYBPC1|protein_coding|CODING|NM_206819.2|16|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His481Gln/c.1443C>G|1141|MYBPC1|protein_coding|CODING|NM_206820.2|14|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His481Gln/c.1443C>G|1123|MYBPC1|protein_coding|CODING|NM_206821.2|14|1)",NHEK:H3K27me3,,RCV000117654.1,,0.1779,0.0893,0.1501,0.14,0.13,0.15,,0.000059(D),0.000(P),"-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18,-0.18(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.268,3.211904,5.48,3.63,0.655000,1.289000,2.317000,0.722000,1.000000,1.000000,5.075
synonymous_variant,MYBPC1,SILENT,NM_001254718.1:p.Ile841Ile/c.2523T>C,atT/atC,LOW,,0.964457,0.997,rs7139095,,,,,,chr12,102064118,102064118,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile841Ile/c.2523T>C|1173|MYBPC1|protein_coding|CODING|NM_001254718.1|23|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile823Ile/c.2469T>C|1146|MYBPC1|protein_coding|CODING|NM_001254719.1|22|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile811Ile/c.2433T>C|1134|MYBPC1|protein_coding|CODING|NM_001254720.1|21|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile804Ile/c.2412T>C|1127|MYBPC1|protein_coding|CODING|NM_001254721.1|21|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile797Ile/c.2391T>C|1120|MYBPC1|protein_coding|CODING|NM_001254722.1|20|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile810Ile/c.2430T>C|1139|MYBPC1|protein_coding|CODING|NM_001254723.1|21|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile848Ile/c.2544T>C|1171|MYBPC1|protein_coding|CODING|NM_002465.3|24|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile848Ile/c.2544T>C|1148|MYBPC1|protein_coding|CODING|NM_206819.2|24|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile841Ile/c.2523T>C|1141|MYBPC1|protein_coding|CODING|NM_206820.2|23|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile823Ile/c.2469T>C|1123|MYBPC1|protein_coding|CODING|NM_206821.2|22|1)","NHEK:CTCF,CD4:DNase1,K562:CTCF,HUVEC:CTCF,IMR90:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,HepG2:DNase1,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,RCV000117656.1,,0.9652,0.9712,0.9523,0.95,0.94,0.95,,,,,,,,,,,,,,,,
synonymous_variant,MYBPC1,SILENT,NM_001254723.1:p.Ser1126Ser/c.3378G>A,tcG/tcA,LOW,,0.570088,0.6478,rs2764,,,,,,chr12,102079418,102079418,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1126Ser/c.3378G>A|1139|MYBPC1|protein_coding|CODING|NM_001254723.1|27|1),3_prime_UTR_variant(MODIFIER||1235|c.*78G>A|1146|MYBPC1|protein_coding|CODING|NM_001254719.1|30|1),3_prime_UTR_variant(MODIFIER||1235|c.*78G>A|1134|MYBPC1|protein_coding|CODING|NM_001254720.1|29|1),3_prime_UTR_variant(MODIFIER||1235|c.*78G>A|1127|MYBPC1|protein_coding|CODING|NM_001254721.1|29|1),3_prime_UTR_variant(MODIFIER||1235|c.*78G>A|1120|MYBPC1|protein_coding|CODING|NM_001254722.1|28|1),3_prime_UTR_variant(MODIFIER||1235|c.*78G>A|1171|MYBPC1|protein_coding|CODING|NM_002465.3|32|1),3_prime_UTR_variant(MODIFIER||1245|c.*88G>A|1148|MYBPC1|protein_coding|CODING|NM_206819.2|31|1),3_prime_UTR_variant(MODIFIER||1245|c.*88G>A|1141|MYBPC1|protein_coding|CODING|NM_206820.2|30|1),3_prime_UTR_variant(MODIFIER||1245|c.*88G>A|1123|MYBPC1|protein_coding|CODING|NM_206821.2|29|1),3_prime_UTR_variant(MODIFIER||8|c.*8G>A|1173|MYBPC1|protein_coding|CODING|NM_001254718.1|30|1)",HUVEC:H3K27me3,,,,0.6472,0.3285,0.5099,,,,,,,,,,,,,,,,,,,
synonymous_variant,CHPT1,SILENT,NM_020244.2:p.Ala147Ala/c.441T>C,gcT/gcC,LOW,,0.103035,0.1687,rs2066920,,,,,,chr12,102108301,102108301,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala147Ala/c.441T>C|406|CHPT1|protein_coding|CODING|NM_020244.2|3|1),"K562:H3K36me3,HepG2:H3K36me3",,,,0.0777,0.1614,0.1143,0.10,0.05,0.12,,,,,,,,,,,,,,,,
synonymous_variant,CHPT1,SILENT,NM_020244.2:p.Asn343Asn/c.1029C>T,aaC/aaT,LOW,,0.698882,0.8879,rs11082,,,,,,chr12,102117589,102117589,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn343Asn/c.1029C>T|406|CHPT1|protein_coding|CODING|NM_020244.2|7|1),"K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.6411,0.5504,0.5239,0.61,0.77,0.52,,,,,,,,,,,,,,,,
synonymous_variant,GNPTAB,SILENT,NM_024312.4:p.Thr644Thr/c.1932A>G,acA/acG,LOW,COSM1127589(2),0.651358,0.8978,rs10778148,,,,,,chr12,102158763,102158763,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr644Thr/c.1932A>G|1256|GNPTAB|protein_coding|CODING|NM_024312.4|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082189.1,,0.6401,0.5346,0.5318,0.56,0.64,0.52,,,,,,,,,,,,,,,,
synonymous_variant,GNPTAB,SILENT,NM_024312.4:p.Leu6Leu/c.18G>A,ctG/ctA,LOW,COSM3752845(2),0.0978435,0.1637,rs4764655,,,,,,chr12,102224436,102224436,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu6Leu/c.18G>A|1256|GNPTAB|protein_coding|CODING|NM_024312.4|1|1),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:TFIIIC-110,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HeLa-S3:TFIIIC-110,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,GM12878:ZEB1,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,CD4:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1",,RCV000082188.1,,0.0736,0.1657,0.1133,0.09,0.04,0.12,,,,,,,,,,,,,,,,
synonymous_variant,PAH,SILENT,NM_000277.1:p.Leu385Leu/c.1155C>G,ctC/ctG,LOW,,0.840256,0.8433,rs772897,,,,,,chr12,103237468,103237468,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu385Leu/c.1155C>G|452|PAH|protein_coding|CODING|NM_000277.1|11|1),HepG2:H3K36me3,,RCV000088769.1,,0.8732,0.8847,0.8429,0.83,0.80,0.84,,,,,,,,,,,,,,,,
synonymous_variant,PAH,SILENT,NM_000277.1:p.Gln232Gln/c.696G>A,caG/caA,LOW,,0.546526,0.0794,rs1126758,,,,,,chr12,103248924,103248924,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln232Gln/c.696G>A|452|PAH|protein_coding|CODING|NM_000277.1|6|1),"GM06990:H3K27me3,HepG2:H3K36me3",,RCV000089040.1,,0.547,0.6888,0.5815,0.65,0.77,0.59,,,,,,,,,,,,,,,,
missense_variant,C12orf42,MISSENSE,NM_001099336.2:p.Glu11Asp/c.33A>C,gaA/gaC,MODERATE,,,,rs10778257,0.17(T),0.072(B),0.345(N),-0.9846(T),,chr12,103872172,103872172,T,G,het,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu11Asp/c.33A>C|360|C12orf42|protein_coding|CODING|NM_001099336.2|2|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu11Asp/c.33A>C|360|C12orf42|protein_coding|CODING|NM_198521.3|2|1),5_prime_UTR_variant(MODIFIER||172075|c.-348A>C|265|C12orf42|protein_coding|CODING|NM_001278419.1|2|1),5_prime_UTR_variant(MODIFIER||172075|c.-348A>C|265|C12orf42|protein_coding|CODING|NM_001278420.1|2|1),non_coding_exon_variant(MODIFIER|||n.163A>C||C12orf42||CODING|NR_103526.1|2|1)",,,,,,,,0.58,0.35,0.68,,,1.000(P),"0.61,1.27,1.27,1.25(T,T,T,T)",0.0000(T),0.191,1.931885,3.44,-0.6,0.459000,-0.099000,0.051000,0.013000,0.002000,0.004000,2.6914
synonymous_variant,STAB2,SILENT,NM_017564.9:p.Tyr833Tyr/c.2499C>T,taC/taT,LOW,COSM4146483(1),0.421725,0.5278,rs11614418,,,,,,chr12,104067812,104067812,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr833Tyr/c.2499C>T|2551|STAB2|protein_coding|CODING|NM_017564.9|23|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.5174,0.389,0.3817,0.35,0.30,0.37,,,,,,,,,,,,,,,,
synonymous_variant,STAB2,SILENT,NM_017564.9:p.Asn1113Asn/c.3339C>T,aaC/aaT,LOW,COSM147590(2),0.467851,0.5585,rs703651,,,,,,chr12,104086631,104086631,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1113Asn/c.3339C>T|2551|STAB2|protein_coding|CODING|NM_017564.9|31|1),,,,,0.4499,0.4092,0.4632,0.44,0.44,0.44,,,,,,,,,,,,,,,,
synonymous_variant,STAB2,SILENT,NM_017564.9:p.Ile1182Ile/c.3546C>T,atC/atT,LOW,,0.0758786,0,rs17034395,,,,,,chr12,104089586,104089586,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile1182Ile/c.3546C>T|2551|STAB2|protein_coding|CODING|NM_017564.9|33|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0654,0.0231,0,0.07,0.19,0.00,,,,,,,,,,,,,,,,
synonymous_variant,STAB2,SILENT,NM_017564.9:p.Asn1700Asn/c.5100C>T,aaC/aaT,LOW,COSM3752849(1),0.284345,0.0367,rs10778281,,,,,,chr12,104123911,104123911,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1700Asn/c.5100C>T|2551|STAB2|protein_coding|CODING|NM_017564.9|49|1),,,,,0.1779,0.2522,0.1511,0.29,0.60,0.14,,,,,,,,,,,,,,,,
synonymous_variant,NT5DC3,SILENT,NM_001031701.2:p.Leu504Leu/c.1512G>A,ctG/ctA,LOW,COSM147592(2),0.224441,0.4375,rs17034524,,,,,,chr12,104171742,104171742,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu504Leu/c.1512G>A|548|NT5DC3|protein_coding|CODING|NM_001031701.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.2104,0.1829,0.14,0.10,0.17,,,,,,,,,,,,,,,,
synonymous_variant,NT5DC3,SILENT,NM_001031701.2:p.Phe322Phe/c.966C>T,ttC/ttT,LOW,,0.112021,0.2639,rs61748068,,,,,,chr12,104186995,104186995,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe322Phe/c.966C>T|548|NT5DC3|protein_coding|CODING|NM_001031701.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0838,0.1585,0.0974,0.07,0.02,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HSP90B1,SILENT,NM_003299.2:p.Pro759Pro/c.2277C>T,ccC/ccT,LOW,,0.45627,0.4692,rs386612201,0.08(T),,,-0.9910(T),,chr12,104341103,104341103,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro759Pro/c.2277C>T|803|HSP90B1|protein_coding|CODING|NM_003299.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3221,0.4582,0.336,0.41,0.59,0.32,,0.000037(D),0.000(P),2.98(T),0.0000(T),.,0.873248,4.5,-5.92,-0.150000,-1.182000,-2.780000,0.890000,0.888000,0.011000,5.3475
synonymous_variant,TXNRD1,SILENT,NM_001093771.2:p.Thr50Thr/c.150G>A,acG/acA,LOW,COSM4146484(1),0.777356,0.8452,rs7960443,,,,,,chr12,104645363,104645363,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr50Thr/c.150G>A|649|TXNRD1|protein_coding|CODING|NM_001093771.2|2|1),HepG2:H3K27me3,,,,0.7464,0.7536,0.836,0.81,0.75,0.84,,,,,,,,,,,,,,,,
synonymous_variant,TXNRD1,SILENT,NM_001093771.2:p.Asp64Asp/c.192T>C,gaT/gaC,LOW,,0.845447,0.869,rs7975161,,,,,,chr12,104645405,104645405,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp64Asp/c.192T>C|649|TXNRD1|protein_coding|CODING|NM_001093771.2|2|1),HepG2:H3K27me3,,,,0.8538,0.7767,0.84,0.85,0.86,0.84,,,,,,,,,,,,,,,,
synonymous_variant,EID3,SILENT,NM_001008394.2:p.Gln290Gln/c.870A>G,caA/caG,LOW,,0.494609,0.6111,rs11111987,,,,,,chr12,104698582,104698582,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln290Gln/c.870A>G|333|EID3|protein_coding|CODING|NM_001008394.2|1|1),intron_variant(MODIFIER|||c.-36-6486A>G|499|TXNRD1|protein_coding|CODING|NM_182743.2|1|1),intron_variant(MODIFIER|||c.-36-6486A>G|499|TXNRD1|protein_coding|CODING|NM_182742.2|1|1),intron_variant(MODIFIER|||c.415-6486A>G|649|TXNRD1|protein_coding|CODING|NM_001093771.2|4|1),intron_variant(MODIFIER|||c.115-6486A>G|549|TXNRD1|protein_coding|CODING|NM_001261445.1|2|1),intron_variant(MODIFIER|||c.121-6486A>G|551|TXNRD1|protein_coding|CODING|NM_003330.3|2|1),intron_variant(MODIFIER|||c.-36-6486A>G|499|TXNRD1|protein_coding|CODING|NM_182729.2|2|1),intron_variant(MODIFIER|||c.-27-8441A>G|461|TXNRD1|protein_coding|CODING|NM_001261446.1|2|1)","HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.502,0.5216,0.5258,0.51,0.41,0.55,,,,,,,,,,,,,,,,
synonymous_variant,ALDH1L2,SILENT,NM_001034173.3:p.Gly671Gly/c.2013A>T,ggA/ggT,LOW,COSM3998643(1),0.310503,0.2619,rs4964317,,,,,,chr12,105433523,105433523,T,A,het,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly671Gly/c.2013A>T|923|ALDH1L2|protein_coding|CODING|NM_001034173.3|17|1),non_coding_exon_variant(MODIFIER|||n.2136A>T||ALDH1L2||CODING|NR_027752.1|17|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5327,0.2622,0.3748,0.32,0.19,0.38,,,,,,,,,,,,,,,,
synonymous_variant,ALDH1L2,SILENT,NM_001034173.3:p.Thr623Thr/c.1869G>A,acG/acA,LOW,COSM147598(2),0.304912,0.2619,rs11112330,,,,,,chr12,105434467,105434467,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr623Thr/c.1869G>A|923|ALDH1L2|protein_coding|CODING|NM_001034173.3|16|1),non_coding_exon_variant(MODIFIER|||n.1992G>A||ALDH1L2||CODING|NR_027752.1|16|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5327,0.2622,0.3748,0.31,0.17,0.38,,,,,,,,,,,,,,,,
missense_variant,KIAA1033,MISSENSE,NM_001293640.1:p.Val902Ile/c.2704G>A,Gta/Ata,MODERATE,,0.978634,1,rs1663564,0.53(T),0.0(B),0.835(L),-0.9785(T),,chr12,105546172,105546172,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val902Ile/c.2704G>A|1174|KIAA1033|protein_coding|CODING|NM_001293640.1|26|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val901Ile/c.2701G>A|1173|KIAA1033|protein_coding|CODING|NM_015275.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9888,0.9726,0.9235,0.94,0.98,0.92,,0.000064(N),1.000(P),0.86(T),0.0000(T),0.037,-0.214011,5.19,4.05,-0.549000,0.315000,2.794000,0.979000,1.000000,1.000000,5.6064
synonymous_variant,APPL2,SILENT,NM_001251904.1:p.Asn661Asn/c.1983C>T,aaC/aaT,LOW,,0.934105,1,rs386622054,,,,,,chr12,105568122,105568122,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn661Asn/c.1983C>T|670|APPL2|protein_coding|CODING|NM_001251904.1|21|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn612Asn/c.1836C>T|621|APPL2|protein_coding|CODING|NM_001251905.1|21|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn655Asn/c.1965C>T|664|APPL2|protein_coding|CODING|NM_018171.3|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9663,0.9179,0.8499,0.86,0.93,0.83,,,,,,,,,,,,,,,,
synonymous_variant,APPL2,SILENT,NM_001251904.1:p.Asp643Asp/c.1929C>T,gaC/gaT,LOW,COSM3812419(1),0.934105,1,rs386622053,,,,,,chr12,105568176,105568176,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp643Asp/c.1929C>T|670|APPL2|protein_coding|CODING|NM_001251904.1|21|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp594Asp/c.1782C>T|621|APPL2|protein_coding|CODING|NM_001251905.1|21|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp637Asp/c.1911C>T|664|APPL2|protein_coding|CODING|NM_018171.3|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9663,0.9179,0.8499,0.86,0.93,0.83,,,,,,,,,,,,,,,,
missense_variant,NUAK1,MISSENSE,NM_014840.2:p.Pro543Arg/c.1628C>G,cCt/cGt,MODERATE,COSM147601(2),0.221446,0.4177,rs3741883,0.32(T),0.383(B),0(N),-0.9961(T),,chr12,106460938,106460938,G,C,het,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro543Arg/c.1628C>G|661|NUAK1|protein_coding|CODING|NM_014840.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2699,0.2133,0.2207,0.17,0.07,0.23,,0.000012(D),0.029(P),-0.76(T),0.0000(T),0.1,1.138832,5.53,5.53,0.462000,2.596000,3.525000,0.204000,0.994000,1.000000,12.7544
missense_variant,CKAP4,MISSENSE,NM_006825.3:p.Ala348Thr/c.1042G>A,Gcc/Acc,MODERATE,,0.219249,0.5466,rs3088113,0.66(T),0.007(B),0.18(N),-0.9160(T),,chr12,106633569,106633569,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala348Thr/c.1042G>A|602|CKAP4|protein_coding|CODING|NM_006825.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2198,0.1513,0.1372,,,,,0.014839(N),1.000(P),0.99(T),0.0000(T),0.013,-0.074948,5.82,4.79,0.563000,1.248000,1.568000,0.994000,0.539000,0.958000,2.5991
missense_variant,TCP11L2,MISSENSE,NM_152772.2:p.Ala41Thr/c.121G>A,Gca/Aca,MODERATE,COSM3752868(1),0.68111,0.3006,rs4964460,,"0.0,0.0,0.0(B,B,B)",-1.905(N),-0.9728(T),,chr12,106704974,106704974,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala41Thr/c.121G>A|266|TCP11L2|protein_coding|CODING|NM_001286262.1|2|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala41Thr/c.121G>A|519|TCP11L2|protein_coding|CODING|NM_152772.2|2|1)","HUVEC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,CD4:PolII",,,,0.6115,0.6499,0.7584,0.82,0.94,0.76,,0.000021(N),1.000(P),"2.33,3.02,2.32,2.32,2.04,1.66(T,T,T,T,T,T)",0.0000(T),0.131,0.990000,5.91,4.77,-0.254000,0.504000,2.785000,0.975000,0.919000,1.000000,10.0435
synonymous_variant,POLR3B,SILENT,NM_018082.5:p.Tyr685Tyr/c.2055T>C,taT/taC,LOW,COSM1358426(2),0.317891,0.6984,rs10861607,,,,,,chr12,106838340,106838340,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr627Tyr/c.1881T>C|1075|POLR3B|protein_coding|CODING|NM_001160708.1|19|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr685Tyr/c.2055T>C|1133|POLR3B|protein_coding|CODING|NM_018082.5|19|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000118025.2,,0.3538,0.3631,0.2694,0.19,0.06,0.26,,,,,,,,,,,,,,,,
synonymous_variant,POLR3B,SILENT,NM_018082.5:p.Asn1132Asn/c.3396T>C,aaT/aaC,LOW,COSM3752870(2),0.32488,0.6855,rs13561,,,,,,chr12,106903321,106903321,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1074Asn/c.3222T>C|1075|POLR3B|protein_coding|CODING|NM_001160708.1|28|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1132Asn/c.3396T>C|1133|POLR3B|protein_coding|CODING|NM_018082.5|28|1),intron_variant(MODIFIER|||n.143-1733A>G||LOC100287944||NON_CODING|NR_040246.1|1|1)","NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118027.2,,0.362,0.366,0.2724,0.21,0.09,0.27,,,,,,,,,,,,,,,,
synonymous_variant,RFX4,SILENT,NM_001206691.1:p.Thr279Thr/c.837T>C,acT/acC,LOW,,0.401757,0.2956,rs10778502,,,,,,chr12,107090201,107090201,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr279Thr/c.837T>C|744|RFX4|protein_coding|CODING|NM_001206691.1|8|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr176Thr/c.528T>C|641|RFX4|protein_coding|CODING|NM_032491.5|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr270Thr/c.810T>C|735|RFX4|protein_coding|CODING|NM_213594.2|8|1),intron_variant(MODIFIER|||n.142+78267A>G||LOC100287944||NON_CODING|NR_040246.1|1|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.3834,0.3588,0.3748,0.43,0.51,0.39,,,,,,,,,,,,,,,,
synonymous_variant,CRY1,SILENT,NM_004075.4:p.Gly212Gly/c.636T>C,ggT/ggC,LOW,,0.789736,0.9554,rs8192440,,,,,,chr12,107395106,107395106,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly212Gly/c.636T>C|586|CRY1|protein_coding|CODING|NM_004075.4|5|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7168,0.7579,0.6282,0.69,0.82,0.62,,,,,,,,,,,,,,,,
missense_variant,BTBD11,MISSENSE,NM_001018072.1:p.Gly265Ala/c.794G>C,gGg/gCg,MODERATE,COSM1579782(4),0.394369,0.4127,rs961498,0.06(T),"0.099,0.017,0.061(B,B,B)",1.665(L),-0.9081(T),,chr12,107713511,107713511,G,C,hom,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly265Ala/c.794G>C|1104|BTBD11|protein_coding|CODING|NM_001018072.1|1|1),"HepG2:H3K4me2,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:H3K4me3,IMR90:H3K27me3,CD4:PolII,NHEK:H3K4me2,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4693,0.4539,0.492,0.36,0.22,0.43,,0.024144(N),0.000(P),"1.39,1.48,1.43(T,T,T)",0.0000(T),0.172,1.731449,4.15,4.15,0.549000,2.308000,2.685000,0.808000,0.080000,0.973000,13.8733
missense_variant,BTBD11,MISSENSE,NM_001018072.1:p.Ala327Thr/c.979G>A,Gca/Aca,MODERATE,COSM4146508(3),0.394569,0.4127,rs111260184,0.72(T),"0.103,0.032,0.071(B,B,B)",0.69(N),-0.9518(T),,chr12,107713696,107713696,G,A,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala327Thr/c.979G>A|1104|BTBD11|protein_coding|CODING|NM_001018072.1|1|1),"NHEK:H3K9ac,HepG2:H3K4me2,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HepG2:H3K4me3,IMR90:H3K27me3,CD4:PolII,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4693,0.4539,0.492,0.43,0.26,0.51,,0.630929(N),0.000(P),"1.32,1.39,1.36,0.49(T,T,T,T)",0.0000(T),0.206,2.040605,3.99,3.06,0.561000,2.030000,.,0.468000,0.088000,.,10.0955
missense_variant,PWP1,MISSENSE,NM_007062.1:p.Leu288Phe/c.864G>C,ttG/ttC,MODERATE,,0.0451278,0.0774,rs11547907,0.05(D),0.058(B),0.805(L),-1.0928(T),,chr12,108096769,108096769,G,C,het,missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu288Phe/c.864G>C|501|PWP1|protein_coding|CODING|NM_007062.1|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.0245,0.0348,0.03,0.02,0.04,,0.097733(N),0.847(N),"1.58,2.23(T,T)",0.0074(T),0.031,2.410319,5.71,4.82,-0.140000,1.422000,2.422000,0.961000,0.991000,1.000000,8.9358
synonymous_variant,CMKLR1,SILENT,NM_001142343.1:p.Val244Val/c.732G>C,gtG/gtC,LOW,COSM3752875(1),0.370407,0.0119,rs1057401,,,,,,chr12,108686008,108686008,C,G,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val244Val/c.732G>C|373|CMKLR1|protein_coding|CODING|NM_001142343.1|4|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val244Val/c.732G>C|373|CMKLR1|protein_coding|CODING|NM_001142344.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val244Val/c.732G>C|373|CMKLR1|protein_coding|CODING|NM_001142345.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val242Val/c.726G>C|371|CMKLR1|protein_coding|CODING|NM_004072.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.32,0.3156,0.4473,0.51,0.60,0.47,,,,,,,,,,,,,,,,
missense_variant,CMKLR1,MISSENSE,NM_001142343.1:p.Ile62Ser/c.185T>G,aTc/aGc,MODERATE,,0.00259585,0,rs141421422,0(D),0.97(D),3.9(H),0.5902(D),,chr12,108686555,108686555,A,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile62Ser/c.185T>G|373|CMKLR1|protein_coding|CODING|NM_001142343.1|4|1),missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile62Ser/c.185T>G|373|CMKLR1|protein_coding|CODING|NM_001142344.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile62Ser/c.185T>G|373|CMKLR1|protein_coding|CODING|NM_001142345.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile60Ser/c.179T>G|371|CMKLR1|protein_coding|CODING|NM_004072.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0,0.0058,0.008,0.00,0.00,0.01,,0.001115(N),1.000(D),"-1.05,-1.05,-1.05,-1.05,-1.05,-1.05,-1.05(T,T,T,T,T,T,T)",0.6562(D),0.94,4.051127,5.0,5.0,0.387000,1.886000,9.291000,0.925000,0.834000,1.000000,13.5319
synonymous_variant,SART3,SILENT,NM_014706.3:p.Pro887Pro/c.2661G>A,ccG/ccA,LOW,,0.808107,0.9355,rs2303633,,,,,,chr12,108918146,108918146,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro887Pro/c.2661G>A|963|SART3|protein_coding|CODING|NM_014706.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8528,0.8343,0.83,0.78,0.67,0.83,,,,,,,,,,,,,,,,
synonymous_variant,SART3,SILENT,NM_014706.3:p.Asp628Asp/c.1884T>C,gaT/gaC,LOW,,0.808506,0.9365,rs1549096,,,,,,chr12,108923950,108923950,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp628Asp/c.1884T>C|963|SART3|protein_coding|CODING|NM_014706.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8528,0.8343,0.831,0.78,0.67,0.83,,,,,,,,,,,,,,,,
synonymous_variant,SART3,SILENT,NM_014706.3:p.Arg36Arg/c.108G>A,agG/agA,LOW,,0.749601,0.9355,rs1063936,0.12(T),,,-1.0614(T),,chr12,108954823,108954823,C,T,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg36Arg/c.108G>A|963|SART3|protein_coding|CODING|NM_014706.3|1|1),upstream_gene_variant(MODIFIER||416||154|ISCU|protein_coding|CODING|NM_001301140.1||1),upstream_gene_variant(MODIFIER||416||156|ISCU|protein_coding|CODING|NM_001301141.1||1),upstream_gene_variant(MODIFIER||416||142|ISCU|protein_coding|CODING|NM_014301.4||1),upstream_gene_variant(MODIFIER||416||167|ISCU|protein_coding|CODING|NM_213595.3||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,H1ESC:Yy1,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,IMR90:H4K8ac",,,,0.8528,0.8112,0.831,0.72,0.51,0.83,,,1.000(P),,0.0000(T),.,0.655744,5.38,2.33,0.561000,0.741000,0.920000,0.652000,0.327000,0.293000,4.4122
missense_variant,ISCU,MISSENSE,NM_213595.3:p.Phe7Val/c.19T>G,Ttc/Gtc,MODERATE,COSM4146515(1),0.89397,0.9544,rs10778647,0.5(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-0.9876(T),,chr12,108956417,108956417,T,G,het,"missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe7Val/c.19T>G|154|ISCU|protein_coding|CODING|NM_001301140.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe7Val/c.19T>G|156|ISCU|protein_coding|CODING|NM_001301141.1|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe7Val/c.19T>G|167|ISCU|protein_coding|CODING|NM_213595.3|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||142|ISCU|protein_coding|CODING|NM_014301.4|1|1),5_prime_UTR_variant(MODIFIER||1476|c.-153T>G|142|ISCU|protein_coding|CODING|NM_014301.4|1|1),upstream_gene_variant(MODIFIER||1252||963|SART3|protein_coding|CODING|NM_014706.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,K562:ATF3,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,IMR90:H3K4me3,K562:DNase1,K562:E2F4,K562:Jund",,,,0.9438,0.8775,0.8678,,,,,0.001397(N),0.000(P),"0.03,0.05,0.03,0.07,0.06(T,T,T,T,T)",0.0000(T),0.451,1.395545,4.95,4.95,-0.121000,1.467000,2.348000,0.038000,0.631000,0.093000,11.0295
missense_variant,ISCU,MISSENSE,NM_213595.3:p.Phe7Cys/c.20T>G,tTc/tGc,MODERATE,COSM4146516(1),0.89397,0.9544,rs10778648,0.18(T),"0.001,0.0,0.001,0.002(B,B,B,B)",0(N),-0.9939(T),,chr12,108956418,108956418,T,G,het,"missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe7Cys/c.20T>G|154|ISCU|protein_coding|CODING|NM_001301140.1|1|1),missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe7Cys/c.20T>G|156|ISCU|protein_coding|CODING|NM_001301141.1|1|1),missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe7Cys/c.20T>G|167|ISCU|protein_coding|CODING|NM_213595.3|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||142|ISCU|protein_coding|CODING|NM_014301.4|1|1),5_prime_UTR_variant(MODIFIER||1475|c.-152T>G|142|ISCU|protein_coding|CODING|NM_014301.4|1|1),upstream_gene_variant(MODIFIER||1253||963|SART3|protein_coding|CODING|NM_014706.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,K562:ATF3,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,IMR90:H3K4me3,K562:DNase1,K562:E2F4,K562:Jund",,,,0.9438,0.8775,0.8678,,,,,0.001397(N),0.000(P),"-0.08,-0.07,-0.08,-0.04,-0.05(T,T,T,T,T)",0.0000(T),0.464,1.905794,4.95,4.95,-0.121000,1.467000,0.932000,0.062000,0.698000,0.080000,11.0295
missense_variant,ISCU,MISSENSE,NM_213595.3:p.Ala12Val/c.35C>T,gCg/gTg,MODERATE,,0.507588,0.5546,rs2287555,0.23(T),"0.939,0.75,0.939,0.972(D,P,D,D)",0(N),-0.9750(T),,chr12,108956433,108956433,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala12Val/c.35C>T|154|ISCU|protein_coding|CODING|NM_001301140.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala12Val/c.35C>T|156|ISCU|protein_coding|CODING|NM_001301141.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala12Val/c.35C>T|167|ISCU|protein_coding|CODING|NM_213595.3|1|1),5_prime_UTR_variant(MODIFIER||1460|c.-137C>T|142|ISCU|protein_coding|CODING|NM_014301.4|1|1),upstream_gene_variant(MODIFIER||1268||963|SART3|protein_coding|CODING|NM_014706.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,IMR90:H3K4me3,K562:DNase1,K562:E2F4,K562:Jund",,,,0.6309,0.4265,0.6799,0.63,0.46,0.69,,0.007245(N),0.000(P),"-0.21,-0.2,-0.21,-0.18,-0.18(T,T,T,T,T)",0.0000(T),0.329,2.392380,5.27,4.39,-0.121000,1.467000,2.971000,0.058000,0.877000,0.999000,11.9885
synonymous_variant,SSH1,SILENT,NM_018984.3:p.Thr955Thr/c.2865A>G,acA/acG,LOW,COSM4146525(1),0.508586,0.6359,rs3741778,,,,,,chr12,109182049,109182049,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr955Thr/c.2865A>G|1049|SSH1|protein_coding|CODING|NM_018984.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.318,0.5216,0.2962,0.42,0.65,0.30,,,,,,,,,,,,,,,,
missense_variant,SSH1,MISSENSE,NM_018984.3:p.Lys827Arg/c.2480A>G,aAa/aGa,MODERATE,,,,,0.33(T),"0.018,0.027(B,B)",2.045(M),-1.0015(T),,chr12,109182434,109182434,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys827Arg/c.2480A>G|1049|SSH1|protein_coding|CODING|NM_018984.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.435684(N),1.000(D),"2.7,2.56(T,T)",0.0494(T),0.186,2.796594,5.54,4.41,0.533000,0.957000,3.361000,0.847000,0.978000,1.000000,11.173
synonymous_variant,USP30,SILENT,NM_032663.4:p.Pro213Pro/c.639T>C,ccT/ccC,LOW,,0.857029,0.9762,rs7967322,,,,,,chr12,109511256,109511256,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro182Pro/c.546T>C|486|USP30|protein_coding|CODING|NM_001301175.1|10|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro213Pro/c.639T>C|517|USP30|protein_coding|CODING|NM_032663.4|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8988,0.853,0.829,0.79,0.77,0.80,,,,,,,,,,,,,,,,
synonymous_variant,ACACB,SILENT,NM_001093.3:p.Ser175Ser/c.525C>T,tcC/tcT,LOW,COSM4146527(1),0.397764,0.2589,rs2878960,,,,,,chr12,109577735,109577735,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser175Ser/c.525C>T|2458|ACACB|protein_coding|CODING|NM_001093.3|1|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4335,0.3977,0.6879,0.55,0.30,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ACACB,SILENT,NM_001093.3:p.Ala272Ala/c.816C>T,gcC/gcT,LOW,,0.231629,0.5099,rs4766516,,,,,,chr12,109605730,109605730,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala272Ala/c.816C>T|2458|ACACB|protein_coding|CODING|NM_001093.3|3|1),"H1ESC:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.273,0.2089,0.1769,0.16,0.08,0.20,,,,,,,,,,,,,,,,
synonymous_variant,ACACB,SILENT,NM_001093.3:p.Asp597Asp/c.1791T>C,gaT/gaC,LOW,COSM4146529(1),0.677316,0.7183,rs11065772,,,,,,chr12,109617865,109617865,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp597Asp/c.1791T>C|2458|ACACB|protein_coding|CODING|NM_001093.3|10|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7219,0.6124,0.8509,0.74,0.57,0.83,,,,,,,,,,,,,,,,
missense_variant,ACACB,MISSENSE,NM_001093.3:p.Ala651Thr/c.1951G>A,Gcc/Acc,MODERATE,COSM1358579(2),0.159545,0.2639,rs2300455,0.07(T),0.999(D),1.8(L),-1.2561(T),,chr12,109623516,109623516,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala651Thr/c.1951G>A|2458|ACACB|protein_coding|CODING|NM_001093.3|11|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2495,0.1571,0.1581,0.15,0.04,0.20,,0.000002(N),0.000(P),"-1.67,-1.67,-1.67(D,D,D)",0.0001(T),0.206,4.264058,5.33,4.44,-0.224000,1.402000,8.003000,0.597000,0.964000,1.000000,14.2525
synonymous_variant,ACACB,SILENT,NM_001093.3:p.Gly728Gly/c.2184C>T,ggC/ggT,LOW,COSM4146530(1),0.38139,0.2589,rs7135947,,,,,,chr12,109629457,109629457,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly728Gly/c.2184C>T|2458|ACACB|protein_coding|CODING|NM_001093.3|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.3988,0.5677,0.5666,0.45,0.27,0.54,,,,,,,,,,,,,,,,
synonymous_variant,ACACB,SILENT,NM_001093.3:p.Leu1502Leu/c.4506T>C,ctT/ctC,LOW,,0.779153,0.7222,rs2241220,,,,,,chr12,109675029,109675029,T,C,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1502Leu/c.4506T>C|2458|ACACB|protein_coding|CODING|NM_001093.3|33|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.7679,0.8804,0.8469,0.80,0.73,0.84,,,,,,,,,,,,,,,,
synonymous_variant,ACACB,SILENT,NM_001093.3:p.His2068His/c.6204C>T,caC/caT,LOW,COSM3752881(1),0.255192,0.2817,rs3742023,,,,,,chr12,109693982,109693982,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His2068His/c.6204C>T|2458|ACACB|protein_coding|CODING|NM_001093.3|44|1),,,,,0.2679,0.2709,0.3777,0.29,0.15,0.36,,,,,,,,,,,,,,,,
missense_variant,ACACB,MISSENSE,NM_001093.3:p.Val2141Ile/c.6421G>A,Gtc/Atc,MODERATE,,0.738818,0.7262,rs2075260,1(T),0.001(B),-2.945(N),-0.9027(T),,chr12,109696838,109696838,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val2141Ile/c.6421G>A|2458|ACACB|protein_coding|CODING|NM_001093.3|46|1),"HepG2:Nrsf,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:Nrsf,HepG2:H3K36me3,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.6401,0.8444,0.834,0.78,0.71,0.82,,0.000000(N),0.000(P),"-4.36,-4.36,-4.36,-4.36(D,D,D,D)",0.0000(T),0.117,0.935934,5.07,5.07,-0.361000,1.039000,6.173000,0.881000,1.000000,1.000000,11.4761
synonymous_variant,FOXN4,SILENT,NM_213596.2:p.Leu445Leu/c.1333T>C,Ttg/Ctg,LOW,COSM3752883(3),0.300519,0.2857,rs10774641,,,,,,chr12,109717697,109717697,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu445Leu/c.1333T>C|517|FOXN4|protein_coding|CODING|NM_213596.2|10|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.3006,0.3401,0.4901,0.37,0.18,0.46,,,,,,,,,,,,,,,,
synonymous_variant,FOXN4,SILENT,NM_213596.2:p.Ser259Ser/c.777C>T,agC/agT,LOW,,0.0998403,0.0288,rs17177336,0(D),,,-0.5349(T),,chr12,109723233,109723233,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser259Ser/c.777C>T|517|FOXN4|protein_coding|CODING|NM_213596.2|8|1),IMR90:H3K27me3,,,,0.1677,0.1037,0.1352,0.11,0.07,0.13,,,0.000(P),,0.0028(T),.,1.590006,4.61,-9.23,-0.439000,-2.813000,-0.245000,0.946000,0.003000,0.311000,17.7707
synonymous_variant,CCDC63,SILENT,NM_152591.2:p.Val503Val/c.1509G>T,gtG/gtT,LOW,COSM3752902(1),0.151358,0.002,rs34300256,,,,,,chr12,111342558,111342558,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val463Val/c.1389G>T|523|CCDC63|protein_coding|CODING|NM_001286243.1|10|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val424Val/c.1272G>T|484|CCDC63|protein_coding|CODING|NM_001286244.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val503Val/c.1509G>T|563|CCDC63|protein_coding|CODING|NM_152591.2|11|1)",HUVEC:H3K27me3,,,,0.089,0.3516,0.2555,0.21,0.15,0.25,,,,,,,,,,,,,,,,
missense_variant,CUX2,MISSENSE,NM_015267.3:p.Val1472Leu/c.4414G>C,Gta/Cta,MODERATE,,1,1,rs6490073,1(T),0.0(B),-2.175(N),-0.9665(T),,chr12,111786082,111786082,G,C,hom,missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val1472Leu/c.4414G>C|1486|CUX2|protein_coding|CODING|NM_015267.3|22|1),"H1ESC:H3K36me3,H1ESC:H3K9me3",,,,1,1,1,,,,,0.000004(N),1.000(P),2.23(T),0.0000(T),0.232,0.209944,5.34,4.25,-0.120000,1.275000,2.224000,0.935000,0.972000,1.000000,11.7411
missense_variant,SH2B3,MISSENSE,NM_005475.2:p.Trp262Arg/c.784T>C,Tgg/Cgg,MODERATE,,0.852636,0.997,rs3184504,1(T),"0.0,0.0(B,B)",-1.845(N),-0.9564(T),,chr12,111884608,111884608,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp60Arg/c.178T>C|373|SH2B3|protein_coding|CODING|NM_001291424.1|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp262Arg/c.784T>C|575|SH2B3|protein_coding|CODING|NM_005475.2|3|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3","Platelet_counts,Beta_2_microglubulin_plasma_levels,Red_blood_cell_traits,Hypothyroidism,Platelet_counts,Diastolic_blood_pressure,Type_1_diabetes_autoantibodies,Coronary_heart_disease,Rheumatoid_arthritis,Type_1_diabetes,Diastolic_blood_pressure,Systolic_blood_pressure,Eosinophil_counts",,,0.9315,0.7464,0.5358,0.63,0.91,0.49,,0.000011(N),1.000(P),"-0.83,1.66(T,T)",0.0000(T),0.044,-2.191368,5.02,2.97,-0.355000,0.533000,0.339000,0.200000,0.159000,0.002000,8.173
synonymous_variant,ATXN2,SILENT,NM_002973.3:p.Gln174Gln/c.522G>A,caG/caA,LOW,COSM3752917(3),0.656749,0.622,rs4098854,,,,,,chr12,112036797,112036797,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln174Gln/c.522G>A|1313|ATXN2|protein_coding|CODING|NM_002973.3|1|1),"K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HUVEC:H3K9ac,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,RCV000116479.2,,0.728,0.6787,0.7167,,,,,,,,,,,,,,,,,,,
synonymous_variant,ATXN2,SILENT,NM_002973.3:p.Arg130Arg/c.390C>T,cgC/cgT,LOW,,0.444289,0.1091,rs695872,,,,,,chr12,112036929,112036929,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg130Arg/c.390C>T|1313|ATXN2|protein_coding|CODING|NM_002973.3|1|1),"K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HUVEC:H3K9ac,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,RCV000116478.2,,0.6656,0.5504,0.7893,,,,,,,,,,,,,,,,,,,
missense_variant,ATXN2,MISSENSE,NM_002973.3:p.Leu107Val/c.319C>G,Ctc/Gtc,MODERATE,COSM4146610(1),0.444289,0.1091,rs695871,,0.0(B),0.46(N),-0.9796(T),,chr12,112037000,112037000,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu107Val/c.319C>G|1313|ATXN2|protein_coding|CODING|NM_002973.3|1|1),"HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,RCV000116477.2,,0.6656,0.5504,0.7893,,,,,0.276011(N),0.000(P),"-0.32,-0.41(T,T)",0.0000(T),0.158,1.533116,3.57,0.688,0.442000,0.272000,-0.012000,0.816000,0.996000,0.034000,5.6918
synonymous_variant,RPH3A,SILENT,NM_001143854.1:p.Asn425Asn/c.1275C>T,aaC/aaT,LOW,,0.568291,0.6181,rs2240194,,,,,,chr12,113319600,113319600,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn425Asn/c.1275C>T|694|RPH3A|protein_coding|CODING|NM_001143854.1|15|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn421Asn/c.1263C>T|690|RPH3A|protein_coding|CODING|NM_014954.3|14|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4376,0.6066,0.4264,0.50,0.66,0.41,,,,,,,,,,,,,,,,
synonymous_variant,RPH3A,SILENT,NM_001143854.1:p.Phe488Phe/c.1464T>C,ttT/ttC,LOW,COSM3752923(1),0.521565,0.623,rs4141253,,,,,,chr12,113325629,113325629,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe488Phe/c.1464T>C|694|RPH3A|protein_coding|CODING|NM_001143854.1|17|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe484Phe/c.1452T>C|690|RPH3A|protein_coding|CODING|NM_014954.3|16|1)","GM06990:H3K27me3,GM12878:H3K27me3",,,,0.4571,0.5735,0.4165,0.43,0.50,0.39,,,,,,,,,,,,,,,,
missense_variant,OAS1,MISSENSE,NM_001032409.1:p.Gly162Ser/c.484G>A,Ggc/Agc,MODERATE,COSM4146652(1),0.473842,0.5913,rs1131454,0.33(T),"0.003,0.004,0.004,0.01,0.004(B,B,B,B,B)",1.07(L),-0.9491(T),,chr12,113348870,113348870,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly162Ser/c.484G>A|414|OAS1|protein_coding|CODING|NM_001032409.1|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly162Ser/c.484G>A|364|OAS1|protein_coding|CODING|NM_002534.2|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly162Ser/c.484G>A|400|OAS1|protein_coding|CODING|NM_016816.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000015022.1,,0.5798,0.6268,0.5746,0.46,0.25,0.57,,0.000139(N),1.000(P),"3.11,3.11,3.11,3.11,3.11(T,T,T,T,T)",0.0000(T),0.036,0.675789,4.16,-5.92,-0.254000,-1.602000,-0.338000,0.001000,0.000000,0.000000,4.839
splice_acceptor_variant,OAS1,protein_coding,NM_016816.2:c.1039G>A,,HIGH,,0.614417,0.745,rs10774671,,,,,OAS1:0.33(3);,chr12,113357193,113357193,G,A,het,"splice_acceptor_variant(HIGH|||c.1039G>A|400|OAS1|protein_coding|CODING|NM_016816.2|6|1),downstream_gene_variant(MODIFIER||1362||364|OAS1|protein_coding|CODING|NM_002534.2||1),intron_variant(MODIFIER|||c.1039-1G>A|400|OAS1|protein_coding|CODING|NM_016816.2|5|1),intron_variant(MODIFIER|||c.1039-99G>A|414|OAS1|protein_coding|CODING|NM_001032409.1|5|1)","GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000015021.1,,0.7096,0.7262,0.6481,0.57,0.44,0.64,,,0.001(P),,,.,0.193020,2.89,2.89,0.557000,1.927000,0.497000,0.019000,0.099000,0.004000,9.4607
missense_variant,OAS1,MISSENSE,NM_016816.2:p.Ala352Thr/c.1054G>A,Gca/Aca,MODERATE,COSM4146653(1),0.78774,0.745,rs1131476,0.47(T),0.004(B),0(N),-1.0466(T),,chr12,113357209,113357209,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala352Thr/c.1054G>A|400|OAS1|protein_coding|CODING|NM_016816.2|6|1),downstream_gene_variant(MODIFIER||1378||364|OAS1|protein_coding|CODING|NM_002534.2||1),intron_variant(MODIFIER|||c.1039-83G>A|414|OAS1|protein_coding|CODING|NM_001032409.1|5|1)","GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.7954,0.6551,0.74,0.92,0.65,,,1.000(P),3.51(T),0.0000(T),0.03,0.788731,2.92,-1.38,0.557000,-0.316000,-2.503000,0.003000,0.000000,0.000000,0.5426
missense_variant,OAS1,MISSENSE,NM_016816.2:p.Arg361Thr/c.1082G>C,aGg/aCg,MODERATE,COSM4146654(1),0.787141,0.745,rs1051042,0.49(T),0.0(B),0(N),-1.0530(T),,chr12,113357237,113357237,G,C,het,"missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg361Thr/c.1082G>C|400|OAS1|protein_coding|CODING|NM_016816.2|6|1),downstream_gene_variant(MODIFIER||1406||364|OAS1|protein_coding|CODING|NM_002534.2||1),intron_variant(MODIFIER|||c.1039-55G>C|414|OAS1|protein_coding|CODING|NM_001032409.1|5|1)","GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.7954,0.6521,0.74,0.92,0.65,,,1.000(P),3.45(T),0.0000(T),0.045,-0.451701,2.35,-4.47,-1.267000,-1.192000,-1.899000,0.001000,0.000000,0.000000,1.1302
missense_variant,OAS1,MISSENSE,NM_001032409.1:p.Gly397Arg/c.1189G>A,Gga/Aga,MODERATE,COSM3752924(1),0.78774,0.745,rs2660,0.84(T),0.016(B),,-1.0161(T),,chr12,113357442,113357442,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly397Arg/c.1189G>A|414|OAS1|protein_coding|CODING|NM_001032409.1|6|1),3_prime_UTR_variant(MODIFIER||84|c.*84G>A|400|OAS1|protein_coding|CODING|NM_016816.2|6|1),downstream_gene_variant(MODIFIER||1611||364|OAS1|protein_coding|CODING|NM_002534.2||1)","GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.7954,0.6551,0.74,0.92,0.65,,0.000000(N),1.000(P),2.98(T),0.0000(T),0.046,-0.109085,2.51,0.603,-0.225000,0.170000,-0.758000,0.009000,0.000000,0.000000,4.7613
missense_variant,OAS3,MISSENSE,NM_006187.2:p.Arg18Lys/c.53G>A,aGg/aAg,MODERATE,COSM3752925(8),0.663139,0.749,rs1859330,0.13(T),"0.005,0.069,0.047(B,B,B)",1.355(L),-1.0767(T),,chr12,113376388,113376388,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg18Lys/c.53G>A|1087|OAS3|protein_coding|CODING|NM_006187.2|1|1),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7147,0.7219,0.6302,0.62,0.59,0.64,,,1.000(P),"3.12,3.12,3.12(T,T,T)",0.0000(T),0.068,2.016575,3.11,-1.2,-0.339000,-0.125000,-0.030000,0.003000,0.023000,0.008000,3.2965
synonymous_variant,OAS3,SILENT,NM_006187.2:p.Ala39Ala/c.117C>T,gcC/gcT,LOW,COSM3752926(6),0.786142,0.748,rs1859329,,,,,,chr12,113376452,113376452,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala39Ala/c.117C>T|1087|OAS3|protein_coding|CODING|NM_006187.2|1|1),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,CD4:H4K8ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7157,0.7738,0.6352,0.74,0.93,0.65,,,,,,,,,,,,,,,,
missense_variant,OAS3,MISSENSE,NM_006187.2:p.Ser381Arg/c.1143C>G,agC/agG,MODERATE,COSM1600011(1),0.280551,0.1577,rs2285933,0.08(T),0.007(B),0.345(N),-0.9103(T),,chr12,113386779,113386779,C,G,het,missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser381Arg/c.1143C>G|1087|OAS3|protein_coding|CODING|NM_006187.2|6|1),"GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.379,0.2565,0.30,0.37,0.26,,,1.000(P),3.27(T),0.0000(T),0.317,-0.362396,3.0,0.0313,-0.145000,-0.002000,-0.993000,0.010000,0.001000,0.000000,3.3881
synonymous_variant,OAS3,SILENT,NM_006187.2:p.Ile438Ile/c.1314T>C,atT/atC,LOW,,0.842452,0.9117,rs2285932,,,,,,chr12,113386950,113386950,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile438Ile/c.1314T>C|1087|OAS3|protein_coding|CODING|NM_006187.2|6|1),"GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7761,0.8012,0.672,0.77,0.94,0.68,,,,,,,,,,,,,,,,
synonymous_variant,OAS3,SILENT,NM_006187.2:p.Leu847Leu/c.2539C>T,Ctg/Ttg,LOW,COSM3752928(1),0.284145,0.1558,rs2240188,,,,,,chr12,113403684,113403684,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu847Leu/c.2539C>T|1087|OAS3|protein_coding|CODING|NM_006187.2|12|1),"GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.3775,0.2604,0.30,0.36,0.27,,,,,,,,,,,,,,,,
synonymous_variant,OAS2,SILENT,NM_016817.2:p.Thr76Thr/c.228C>G,acC/acG,LOW,COSM3752929(1),0.21905,0.0863,rs2072138,,,,,,chr12,113424893,113424893,C,G,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr76Thr/c.228C>G|687|OAS2|protein_coding|CODING|NM_002535.2|2|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr76Thr/c.228C>G|719|OAS2|protein_coding|CODING|NM_016817.2|2|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr76Thr/c.228C>G|172|OAS2|protein_coding|CODING|NM_001032731.1|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H4K20me1,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2188,0.3401,0.2753,0.27,0.24,0.29,,,,,,,,,,,,,,,,
missense_variant,OAS2,MISSENSE,NM_001032731.1:p.Ser163Arg/c.489C>G,agC/agG,MODERATE,,0.853435,0.9137,rs1293767,,0.0(B),,-1.0551(T),,chr12,113425154,113425154,C,G,het,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser163Arg/c.489C>G|172|OAS2|protein_coding|CODING|NM_001032731.1|2|1),intron_variant(MODIFIER|||c.448+41C>G|687|OAS2|protein_coding|CODING|NM_002535.2|2|1),intron_variant(MODIFIER|||c.448+41C>G|719|OAS2|protein_coding|CODING|NM_016817.2|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H4K20me1,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8262,0.804,0.675,0.77,0.94,0.68,,,1.000(P),2.8(T),0.0000(T),0.065,-1.613994,2.91,0.0253,-0.729000,-0.255000,0.257000,0.001000,0.000000,0.007000,3.3519
synonymous_variant,OAS2,SILENT,NM_016817.2:p.Val251Val/c.753A>T,gtA/gtT,LOW,,0.877596,1,rs1293755,,,,,,chr12,113435450,113435450,A,T,het,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val251Val/c.753A>T|687|OAS2|protein_coding|CODING|NM_002535.2|4|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val251Val/c.753A>T|719|OAS2|protein_coding|CODING|NM_016817.2|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8579,0.7997,0.6819,0.77,0.94,0.69,,,,,,,,,,,,,,,,
stop_lost,OAS2,MISSENSE,NM_016817.2:p.Ter720Trpext*?/c.2159A>G,tAg/tGg,HIGH,,0.864417,0.997,rs15895,,,,,,chr12,113448288,113448288,A,G,het,"stop_lost(HIGH|MISSENSE|tAg/tGg|p.Ter720Trpext*?/c.2159A>G|719|OAS2|protein_coding|CODING|NM_016817.2|11|1),3_prime_UTR_variant(MODIFIER||1228|c.*1228A>G|687|OAS2|protein_coding|CODING|NM_002535.2|10|1)","GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8487,0.7781,0.6441,0.75,0.93,0.66,,,1.000(P),,,.,-0.322201,3.29,0.85,0.459000,0.163000,0.040000,0.068000,0.097000,0.010000,3.3003
missense_variant,RASAL1,MISSENSE,NM_001193520.1:p.Arg321His/c.962G>A,cGc/cAc,MODERATE,,0.780351,0.7927,rs1284879,0.07(T),"0.179,0.333,0.06,0.027,0.333(B,B,B,B,B)",-0.145(N),-1.1398(T),,chr12,113553481,113553481,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg321His/c.962G>A|806|RASAL1|protein_coding|CODING|NM_001193520.1|11|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg321His/c.962G>A|776|RASAL1|protein_coding|CODING|NM_001193521.1|10|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg321His/c.962G>A|805|RASAL1|protein_coding|CODING|NM_001301202.1|10|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg321His/c.962G>A|804|RASAL1|protein_coding|CODING|NM_004658.2|11|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7577,0.8559,0.7734,0.77,0.75,0.77,,0.000043(D),0.988(P),"2.3,2.3,2.3,2.3(T,T,T,T)",0.0000(T),0.165,2.800696,5.46,2.6,-1.777000,0.252000,3.620000,0.610000,0.570000,1.000000,11.2838
missense_variant,PLBD2,MISSENSE,NM_173542.3:p.Gln54Pro/c.161A>C,cAg/cCg,MODERATE,COSM3752937(4),0.64397,0.5208,rs7965471,1(T),"0.0,0.0(B,B)",-0.695(N),-0.9924(T),,chr12,113796566,113796566,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln54Pro/c.161A>C|557|PLBD2|protein_coding|CODING|NM_001159727.1|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln54Pro/c.161A>C|589|PLBD2|protein_coding|CODING|NM_173542.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,GM12878:USF1,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Nrsf,H1ESC:Tcf12,HepG2:H3K9ac,H1ESC:Nrsf,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,K562:Nrsf,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.637,0.415,0.5467,0.64,0.87,0.52,,0.469785(N),1.000(P),"2.27,2.53(T,T)",0.0000(T),0.085,-2.206974,3.28,1.34,-1.175000,0.057000,0.125000,0.001000,0.000000,0.989000,1.8937
missense_variant,RBM19,MISSENSE,NM_001146698.1:p.Gln602Glu/c.1804C>G,Cag/Gag,MODERATE,,0.995407,1,rs7299217,1(T),0.0(B),-1.12(N),-0.9394(T),,chr12,114377899,114377899,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln602Glu/c.1804C>G|960|RBM19|protein_coding|CODING|NM_001146698.1|15|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln602Glu/c.1804C>G|960|RBM19|protein_coding|CODING|NM_001146699.1|15|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln602Glu/c.1804C>G|960|RBM19|protein_coding|CODING|NM_016196.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.99,0.98,1.00,,0.000001(N),1.000(P),"3.17,3.17,3.17(T,T,T)",0.0000(T),0.129,-1.338733,4.3,3.36,-0.216000,0.829000,5.432000,0.080000,0.599000,1.000000,14.1533
synonymous_variant,MED13L,SILENT,NM_015335.4:p.Pro2118Pro/c.6354C>T,ccC/ccT,LOW,,0.0359425,0,rs3088260,,,,,,chr12,116403920,116403920,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro2118Pro/c.6354C>T|2210|MED13L|protein_coding|CODING|NM_015335.4|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0542,0.036,0.0845,0.07,0.02,0.10,,,,,,,,,,,,,,,,
synonymous_variant,MED13L,SILENT,NM_015335.4:p.Thr1976Thr/c.5928T>C,acT/acC,LOW,COSM147620(1),0.152756,0.1696,rs2304460,,,,-1.0409(T),,chr12,116408538,116408538,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr1976Thr/c.5928T>C|2210|MED13L|protein_coding|CODING|NM_015335.4|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2249,0.1311,0.1899,0.15,0.09,0.18,,,0.000(P),,0.0002(T),.,1.171638,5.55,3.21,0.533000,0.534000,0.413000,0.998000,1.000000,0.994000,1.7372
synonymous_variant,MED13L,SILENT,NM_015335.4:p.Leu1024Leu/c.3070T>C,Ttg/Ctg,LOW,,0.155751,0.1815,rs1865787,,,,,,chr12,116429689,116429689,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1024Leu/c.3070T>C|2210|MED13L|protein_coding|CODING|NM_015335.4|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2321,0.1297,0.1938,0.15,0.09,0.19,,,,,,,,,,,,,,,,
synonymous_variant,MED13L,SILENT,NM_015335.4:p.Gln591Gln/c.1773G>A,caG/caA,LOW,COSM3752943(1),0.143371,0.1637,rs3741768,,,,,,chr12,116446445,116446445,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln591Gln/c.1773G>A|2210|MED13L|protein_coding|CODING|NM_015335.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2209,0.1268,0.1869,0.14,0.07,0.18,,,,,,,,,,,,,,,,
synonymous_variant,MED13L,SILENT,NM_015335.4:p.Lys316Lys/c.948G>A,aaG/aaA,LOW,,0.00439297,0,rs61748072,,,,,,chr12,116457090,116457090,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys316Lys/c.948G>A|2210|MED13L|protein_coding|CODING|NM_015335.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0115,0.0099,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,C12orf49,MISSENSE,NM_024738.1:p.Gln55Arg/c.164A>G,cAg/cGg,MODERATE,,0.0241613,0.001,rs10507274,0.94(T),0.002(B),1.04(L),-1.1124(T),,chr12,117160976,117160976,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln55Arg/c.164A>G|205|C12orf49|protein_coding|CODING|NM_024738.1|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.049,0.0746,0.05,0.01,0.07,,0.000007(D),1.000(D),1.0(T),0.0048(T),0.072,2.292853,3.89,3.89,0.533000,1.998000,5.512000,0.988000,0.998000,1.000000,13.7774
synonymous_variant,RNFT2,SILENT,NM_001109903.1:p.Ala290Ala/c.870T>C,gcT/gcC,LOW,,0.871605,0.9534,rs4767452,,,,,,chr12,117217141,117217141,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala290Ala/c.870T>C|444|RNFT2|protein_coding|CODING|NM_001109903.1|7|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala290Ala/c.870T>C|420|RNFT2|protein_coding|CODING|NM_032814.3|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8538,0.9193,0.8827,0.86,0.80,0.89,,,,,,,,,,,,,,,,
missense_variant,FBXW8,MISSENSE,NM_153348.2:p.Arg58Gly/c.172C>G,Cgt/Ggt,MODERATE,COSM4146686(1),0.754992,0.7321,rs11068230,1(T),0.0(B),-0.895(N),-1.0052(T),,chr12,117349014,117349014,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg58Gly/c.172C>G|598|FBXW8|protein_coding|CODING|NM_153348.2|1|1),intron_variant(MODIFIER|||c.120+52C>G|532|FBXW8|protein_coding|CODING|NM_012174.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:Gabp,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:Yy1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.8497,0.8818,0.8429,,,,,0.001335(N),0.000(P),3.23(T),0.0000(T),0.07,-1.342147,4.11,1.27,-0.930000,0.157000,0.155000,0.055000,0.964000,0.850000,1.137
missense_variant,FBXW8,MISSENSE,NM_153348.2:p.Arg192Gln/c.575G>A,cGa/cAa,MODERATE,,0.641773,0.7302,rs386590768,0.17(T),"0.457,0.977(P,D)",1.935(M),-1.1156(T),,chr12,117383320,117383320,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg126Gln/c.377G>A|532|FBXW8|protein_coding|CODING|NM_012174.1|3|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg192Gln/c.575G>A|598|FBXW8|protein_coding|CODING|NM_153348.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7791,0.8429,0.8201,0.67,0.31,0.85,,0.000080(D),0.005(P),"1.82,1.82(T,T)",0.0000(T),0.58,4.031213,6.08,5.19,0.655000,1.585000,4.602000,0.984000,0.990000,1.000000,13.0064
synonymous_variant,FBXW8,SILENT,NM_153348.2:p.Tyr559Tyr/c.1677T>C,taT/taC,LOW,,0.945687,0.997,rs4529958,,,,,,chr12,117465857,117465857,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr493Tyr/c.1479T>C|532|FBXW8|protein_coding|CODING|NM_012174.1|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr559Tyr/c.1677T>C|598|FBXW8|protein_coding|CODING|NM_153348.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.955,0.9063,0.8519,0.89,0.97,0.84,,,,,,,,,,,,,,,,
synonymous_variant,NOS1,SILENT,NM_001204218.1:p.Asp1120Asp/c.3360C>T,gaC/gaT,LOW,COSM1359113(2),0.258387,0.3304,rs3741475,,,,,,chr12,117669914,117669914,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1086Asp/c.3258C>T|1434|NOS1|protein_coding|CODING|NM_000620.4|22|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp750Asp/c.2250C>T|1098|NOS1|protein_coding|CODING|NM_001204213.1|21|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp750Asp/c.2250C>T|1098|NOS1|protein_coding|CODING|NM_001204214.1|21|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1120Asp/c.3360C>T|1468|NOS1|protein_coding|CODING|NM_001204218.1|23|1)","NHEK:CTCF,K562:CTCF,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.2311,0.2118,0.2137,0.22,0.24,0.20,,,,,,,,,,,,,,,,
synonymous_variant,NOS1,SILENT,NM_001204218.1:p.His936His/c.2808C>T,caC/caT,LOW,COSM3752946(1),0.346446,0.502,rs1047735,,,,,,chr12,117685270,117685270,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His902His/c.2706C>T|1434|NOS1|protein_coding|CODING|NM_000620.4|18|1),synonymous_variant(LOW|SILENT|caC/caT|p.His566His/c.1698C>T|1098|NOS1|protein_coding|CODING|NM_001204213.1|17|1),synonymous_variant(LOW|SILENT|caC/caT|p.His566His/c.1698C>T|1098|NOS1|protein_coding|CODING|NM_001204214.1|17|1),synonymous_variant(LOW|SILENT|caC/caT|p.His936His/c.2808C>T|1468|NOS1|protein_coding|CODING|NM_001204218.1|19|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2935,0.5231,0.3151,0.26,0.18,0.30,,,,,,,,,,,,,,,,
missense_variant,NOS1,MISSENSE,NM_001204218.1:p.Pro853Ser/c.2557C>T,Ccc/Tcc,MODERATE,,0.347444,0.502,rs11068428,0.32(T),,0(N),-1.0866(T),,chr12,117693817,117693817,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro853Ser/c.2557C>T|1468|NOS1|protein_coding|CODING|NM_001204218.1|17|1),intron_variant(MODIFIER|||c.2532-2258C>T|1434|NOS1|protein_coding|CODING|NM_000620.4|16|1),intron_variant(MODIFIER|||c.1524-2258C>T|1098|NOS1|protein_coding|CODING|NM_001204213.1|15|1),intron_variant(MODIFIER|||c.1524-2258C>T|1098|NOS1|protein_coding|CODING|NM_001204214.1|15|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2935,0.5231,0.3161,0.28,0.19,0.31,,,0.000(P),5.08(T),0.0000(T),0.165,1.296247,5.93,5.05,0.655000,1.529000,2.955000,0.998000,1.000000,1.000000,11.0829
synonymous_variant,KSR2,SILENT,NM_173598.4:p.Thr143Thr/c.429G>C,acG/acC,LOW,COSM4146691(1),0.942093,0.9474,rs617641,,,,,,chr12,118199286,118199286,C,G,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr143Thr/c.429G>C|921|KSR2|protein_coding|CODING|NM_173598.4|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3",,,,0.9417,0.9251,0.8807,0.90,0.97,0.87,,,,,,,,,,,,,,,,
synonymous_variant,RFC5,SILENT,NM_007370.5:p.Leu286Leu/c.856T>C,Ttg/Ctg,LOW,,0.0946486,0,rs5745873,,,,,,chr12,118465820,118465820,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu201Leu/c.601T>C|255|RFC5|protein_coding|CODING|NM_001130112.2|10|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu286Leu/c.856T>C|340|RFC5|protein_coding|CODING|NM_007370.5|9|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu265Leu/c.793T>C|319|RFC5|protein_coding|CODING|NM_181578.3|10|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu283Leu/c.847T>C|337|RFC5|protein_coding|CODING|NM_001206801.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0461,0.0964,0.13,0.23,0.08,,,,,,,,,,,,,,,,
synonymous_variant,VSIG10,SILENT,NM_019086.5:p.Leu521Leu/c.1563T>A,ctT/ctA,LOW,,0.421326,0.372,rs67405503,,,,,,chr12,118506186,118506186,A,T,het,synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu521Leu/c.1563T>A|540|VSIG10|protein_coding|CODING|NM_019086.5|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4233,0.4582,0.4036,0.40,0.43,0.38,,,,,,,,,,,,,,,,
missense_variant,SRRM4,MISSENSE,NM_194286.3:p.Arg406Gln/c.1217G>A,cGa/cAa,MODERATE,COSM3752956(1),0.245208,0.1468,rs2723880,,0.008(B),1.245(L),-0.9138(T),,chr12,119588962,119588962,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg406Gln/c.1217G>A|611|SRRM4|protein_coding|CODING|NM_194286.3|10|1),H1ESC:H3K36me3,,,,0.2045,0.3804,0.3966,0.32,0.18,0.39,,0.136681(N),1.000(P),1.81(T),0.0000(T),0.094,4.265032,5.58,2.63,0.655000,1.489000,0.685000,0.964000,0.970000,0.270000,3.8042
missense_variant,CCDC60,MISSENSE,NM_178499.3:p.Ile46Val/c.136A>G,Ata/Gta,MODERATE,COSM1162341(1),0.253195,0.2788,rs1064319,,0.011(B),1.39(L),-1.0011(T),,chr12,119866533,119866533,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile46Val/c.136A>G|550|CCDC60|protein_coding|CODING|NM_178499.3|2|1),,,,,0.2035,0.245,0.326,0.29,0.22,0.33,,0.139250(N),1.000(P),"0.51,1.85,0.31(T,T,T)",0.0000(T),0.088,1.717191,4.54,0.905,-0.256000,0.151000,0.868000,0.858000,0.044000,0.623000,6.5238
synonymous_variant,TMEM233,SILENT,NM_001136534.1:p.Asp69Asp/c.207T>C,gaT/gaC,LOW,COSM4146697(1),0.730232,0.627,rs2301653,,,,,,chr12,120067561,120067561,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp69Asp/c.207T>C|109|TMEM233|protein_coding|CODING|NM_001136534.1|2|1),HSMM:H3K36me3,,,,0.7393,0.7579,0.8032,0.80,0.78,0.81,,,,,,,,,,,,,,,,
synonymous_variant,CIT,SILENT,NM_001206999.1:p.Ser1359Ser/c.4077C>T,tcC/tcT,LOW,,0.182508,0.0109,rs278102,,,,-1.0370(T),,chr12,120156141,120156141,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1359Ser/c.4077C>T|2069|CIT|protein_coding|CODING|NM_001206999.1|32|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1317Ser/c.3951C>T|2027|CIT|protein_coding|CODING|NM_007174.2|31|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1728,0.1916,0.2843,0.27,0.24,0.29,,,0.000(P),,0.0000(T),.,1.641188,5.74,-8.01,-0.345000,-1.770000,-0.263000,0.986000,0.876000,0.307000,8.9636
synonymous_variant,CIT,SILENT,NM_001206999.1:p.Arg1108Arg/c.3324A>G,agA/agG,LOW,COSM4146704(1),0.791733,0.5526,rs278109,,,,-1.0379(T),,chr12,120171995,120171995,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg1108Arg/c.3324A>G|2069|CIT|protein_coding|CODING|NM_001206999.1|26|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg1066Arg/c.3198A>G|2027|CIT|protein_coding|CODING|NM_007174.2|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7485,0.8761,0.8141,0.86,0.93,0.82,,,0.000(P),,0.0000(T),.,1.076382,5.35,2.01,-0.349000,0.248000,0.262000,0.834000,1.000000,0.987000,6.7864
synonymous_variant,CIT,SILENT,NM_001206999.1:p.Ala960Ala/c.2880T>C,gcT/gcC,LOW,COSM4146707(1),0.599441,0.5675,rs904655,,,,-0.9336(T),,chr12,120189879,120189879,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala960Ala/c.2880T>C|2069|CIT|protein_coding|CODING|NM_001206999.1|23|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala918Ala/c.2754T>C|2027|CIT|protein_coding|CODING|NM_007174.2|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5818,0.6686,0.5298,0.57,0.64,0.53,,,0.000(P),,0.0000(T),.,1.364487,5.38,-8.33,-1.442000,-1.205000,-3.075000,0.928000,0.947000,0.000000,0.2894
synonymous_variant,CIT,SILENT,NM_001206999.1:p.Thr957Thr/c.2871A>G,acA/acG,LOW,COSM4146708(1),0.538538,0.5665,rs904654,,,,-0.9708(T),,chr12,120189888,120189888,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr957Thr/c.2871A>G|2069|CIT|protein_coding|CODING|NM_001206999.1|23|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr915Thr/c.2745A>G|2027|CIT|protein_coding|CODING|NM_007174.2|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5777,0.634,0.499,0.49,0.46,0.50,,,0.000(P),,0.0000(T),.,1.013878,5.38,-10.8,0.454000,-2.162000,-5.023000,0.950000,0.027000,0.000000,2.0898
synonymous_variant,RAB35,SILENT,NM_006861.6:p.Asn162Asn/c.486C>T,aaC/aaT,LOW,,0.076877,0,rs61748076,,,,,,chr12,120535169,120535169,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu121Leu/c.361C>T|152|RAB35|protein_coding|CODING|NM_001167606.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn162Asn/c.486C>T|201|RAB35|protein_coding|CODING|NM_006861.6|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.0591,0.0656,0.11,0.17,0.08,,,,,,,,,,,,,,,,
missense_variant,GCN1L1,MISSENSE,NM_006836.1:p.Tyr2155Asp/c.6463T>G,Tat/Gat,MODERATE,,0.999401,1,rs3864938,0.41(T),0.0(B),-1.935(N),-0.9370(T),,chr12,120575549,120575549,A,C,hom,missense_variant(MODERATE|MISSENSE|Tat/Gat|p.Tyr2155Asp/c.6463T>G|2671|GCN1L1|protein_coding|CODING|NM_006836.1|49|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.998,1.00,1.00,1.00,,0.000001(N),0.980(P),-0.16(T),0.0000(T),0.34,-0.815771,5.37,5.37,-0.281000,1.266000,4.492000,0.196000,0.994000,1.000000,15.6449
synonymous_variant,GCN1L1,SILENT,NM_006836.1:p.Leu1366Leu/c.4098T>C,ctT/ctC,LOW,,0.909345,0.9851,rs2286046,,,,,,chr12,120589160,120589160,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1366Leu/c.4098T>C|2671|GCN1L1|protein_coding|CODING|NM_006836.1|34|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9489,0.8156,0.7555,0.84,0.96,0.78,,,,,,,,,,,,,,,,
missense_variant,PXN,MISSENSE,NM_001243756.1:p.Ser73Gly/c.217A>G,Agc/Ggc,MODERATE,COSM430508(1),0.900759,0.9851,rs4767884,0.84(T),"0.0,0.0(B,B)",0.145(N),-0.9921(T),,chr12,120661977,120661977,T,C,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser73Gly/c.217A>G|591|PXN|protein_coding|CODING|NM_001080855.2|2|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser73Gly/c.217A>G|605|PXN|protein_coding|CODING|NM_001243756.1|2|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser73Gly/c.217A>G|557|PXN|protein_coding|CODING|NM_002859.3|2|1),5_prime_UTR_variant(MODIFIER||1218|c.-183A>G|424|PXN|protein_coding|CODING|NM_025157.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,GM06990:H3K36me3",,,,0.9192,0.8112,0.7614,0.83,0.94,0.78,,0.976960(N),1.000(P),"0.89,0.89,0.89,0.89,0.89(T,T,T,T,T)",0.0000(T),0.18,-1.146863,5.61,0.22,-0.941000,0.056000,-0.277000,0.111000,0.102000,0.000000,7.1679
synonymous_variant,PLA2G1B,SILENT,NM_000928.2:p.Ser98Ser/c.294G>A,tcG/tcA,LOW,,0.210863,0.0794,rs386599271,,,,,,chr12,120762765,120762765,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser98Ser/c.294G>A|148|PLA2G1B|protein_coding|CODING|NM_000928.2|3|1),IMR90:H3K27me3,,,,0.1299,0.147,0.1392,0.23,0.39,0.15,,,,,,,,,,,,,,,,
missense_variant,MSI1,MISSENSE,NM_002442.3:p.Ser231Thr/c.692G>C,aGt/aCt,MODERATE,,,,rs192219825,0.13(T),0.005(B),1.155(L),-0.7958(T),,chr12,120791143,120791143,C,G,het,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser231Thr/c.692G>C|362|MSI1|protein_coding|CODING|NM_002442.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,,,,0.00,0.00,0.00,,0.000000(D),1.000(D),1.82(T),0.2182(T),0.271,2.651444,4.39,4.39,0.455000,2.259000,5.431000,0.986000,1.000000,1.000000,17.1557
missense_variant,GATC,MISSENSE,NM_176818.2:p.Ser3Leu/c.8C>T,tCg/tTg,MODERATE,COSM3752962(1),0.0405351,0.0089,rs17431446,0.01(D),0.0(B),0(N),-1.0725(T),,chr12,120884291,120884291,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser3Leu/c.8C>T|136|GATC|protein_coding|CODING|NM_176818.2|1|1),upstream_gene_variant(MODIFIER||76||76|TRIAP1|protein_coding|CODING|NM_016399.2||1),non_coding_exon_variant(MODIFIER|||n.51C>T||GATC||CODING|NR_033684.1|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,GM12878:Pax5,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,HepG2:Srf,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,CD4:H2BK20ac,H1ESC:ATF3,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,GM12878:SIX5,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,GM12878:ATF3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,K562:Znf263,GM12878:ELF1,GM12878:Yy1,H1ESC:Srf,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:ATF3,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.1033,0.0447,0.0606,0.04,0.01,0.06,,0.030049(N),1.000(N),0.67(T),0.0078(T),0.049,1.953388,5.16,2.23,0.644000,0.767000,0.573000,0.048000,0.954000,0.960000,6.0097
synonymous_variant,SRSF9,SILENT,NM_003769.2:p.Glu27Glu/c.81G>A,gaG/gaA,LOW,,0.0407348,0.0099,rs11548264,0.03(D),,,-1.1451(T),,chr12,120907332,120907332,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu27Glu/c.81G>A|221|SRSF9|protein_coding|CODING|NM_003769.2|1|1),upstream_gene_variant(MODIFIER||328||89|DYNLL1|protein_coding|CODING|NM_001037494.1||1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.1033,0.0447,0.0606,0.04,0.01,0.06,,0.000080(D),1.000(D),2.03(T),0.0166(T),.,2.003325,4.45,4.45,0.597000,2.316000,0.367000,0.944000,1.000000,0.051000,16.0652
synonymous_variant,POP5,SILENT,NM_015918.3:p.Leu148Leu/c.442T>C,Tta/Cta,LOW,COSM4146719(1),0.786542,0.8413,rs7174,,,,,,chr12,121017171,121017171,A,G,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu148Leu/c.442T>C|163|POP5|protein_coding|CODING|NM_015918.3|5|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu98Leu/c.292T>C|113|POP5|protein_coding|CODING|NM_198202.1|4|1),downstream_gene_variant(MODIFIER||1774||811|RNF10|protein_coding|CODING|NM_014868.4||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7975,0.8271,0.7962,0.78,0.71,0.82,,,,,,,,,,,,,,,,
synonymous_variant,ACADS,SILENT,NM_000017.2:p.Arg107Arg/c.321T>C,cgT/cgC,LOW,COSM3765623(1),0.590655,0.5655,rs3914,,,,,,chr12,121174899,121174899,T,C,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg107Arg/c.321T>C|412|ACADS|protein_coding|CODING|NM_000017.2|3|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.6401,0.5922,0.4702,0.51,0.62,0.45,,,,,,,,,,,,,,,,
missense_variant,ACADS,MISSENSE,NM_000017.2:p.Gly209Ser/c.625G>A,Ggc/Agc,MODERATE,COSM3752964(2),0.182308,0.1052,rs1799958,,"0.757,0.332,0.332(P,B,B)",2.07(M),-2.0058(T),,chr12,121176083,121176083,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly209Ser/c.625G>A|412|ACADS|protein_coding|CODING|NM_000017.2|6|1),splice_region_variant(LOW|||c.625G>A|412|ACADS|protein_coding|CODING|NM_000017.2|6|1)","K562:CTCF,K562:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,IMR90:H3K36me3,HMEC:CTCF,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,RCV000004035.1|RCV000077896.1,,0.2607,0.3473,0.2654,0.20,0.06,0.26,,0.000000(D),0.000(P),"-5.82,-5.12(D,D)",0.0007(T),0.941,4.605761,4.64,4.64,0.462000,2.145000,9.429000,0.589000,1.000000,1.000000,17.4923
synonymous_variant,ACADS,SILENT,NM_000017.2:p.Arg330Arg/c.990C>T,cgC/cgT,LOW,COSM4146720(1),0.673123,0.5655,rs3915,,,,,,chr12,121176679,121176679,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg330Arg/c.990C>T|412|ACADS|protein_coding|CODING|NM_000017.2|8|1),"K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6401,0.6182,0.4632,0.59,0.88,0.45,,,,,,,,,,,,,,,,
synonymous_variant,HNF1A,SILENT,NM_000545.5:p.Leu17Leu/c.51C>G,ctC/ctG,LOW,COSM430521(2),0.428514,0.3819,rs1169289,,,,,,chr12,121416622,121416622,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu17Leu/c.51C>G|631|HNF1A|protein_coding|CODING|NM_000545.5|1|1),"HepG2:H3K4me2,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:H3K79me2,HepG2:DNase1,HepG2:H3K27me3,HepG2:Cmyc",,RCV000117231.2|RCV000125369.1,,0.5787,0.438,0.4692,0.42,0.34,0.46,,,,,,,,,,,,,,,,
missense_variant,HNF1A,MISSENSE,NM_000545.5:p.Ile27Leu/c.79A>C,Atc/Ctc,MODERATE,COSM430522(5),0.298522,0.3889,,0.33(T),"0.013,0.022,0.047,0.012(B,B,B,B)",1.445(L),-1.1988(T),,chr12,121416650,121416650,A,C,het,missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile27Leu/c.79A>C|631|HNF1A|protein_coding|CODING|NM_000545.5|1|1),"HepG2:H3K4me2,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:H3K79me2,HepG2:DNase1,HepG2:H3K27me3","Gamma_gluatamyl_transferase_levels,Cholesterol_total,LDL_cholesterol",RCV000016074.1|RCV000016075.25|RCV000117233.3|RCV000125370.1,,0.4325,0.33,0.339,0.26,0.12,0.34,,0.000599(D),0.000(P),"-4.99,-4.99,-4.99(D,D,D)",0.0000(T),0.491,2.485259,4.45,4.45,0.482000,1.637000,3.135000,0.964000,1.000000,1.000000,12.8999
synonymous_variant,HNF1A,SILENT,NM_000545.5:p.Leu459Leu/c.1375C>T,Ctg/Ttg,LOW,COSM3931546(1),0.316693,0.4732,rs2259820,,,,,,chr12,121435342,121435342,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu459Leu/c.1375C>T|631|HNF1A|protein_coding|CODING|NM_000545.5|7|1),"HepG2:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,RCV000117226.2|RCV000125373.1,,0.4131,0.3501,0.3161,0.25,0.12,0.31,,,,,,,,,,,,,,,,
missense_variant,HNF1A,MISSENSE,NM_000545.5:p.Ser487Asn/c.1460G>A,aGc/aAc,MODERATE,,0.317692,0.4732,rs2464196,0.14(T),"0.005,0.085,0.147(B,B,B)",1.245(L),-1.0973(T),,chr12,121435427,121435427,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser487Asn/c.1460G>A|631|HNF1A|protein_coding|CODING|NM_000545.5|7|1),"HepG2:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,RCV000117227.3|RCV000125374.1,,0.4141,0.3501,0.3161,0.25,0.12,0.31,,0.000014(N),0.000(P),"-4.39,-4.39,-4.39(D,D,D)",0.0000(T),0.098,1.924644,4.49,3.53,0.655000,0.976000,1.527000,0.944000,0.992000,0.950000,10.4952
missense_variant,HNF1A,MISSENSE,NM_000545.5:p.Ser574Gly/c.1720A>G,Agc/Ggc,MODERATE,,0.985224,1,rs1169305,0.73(T),0.0(B),,-0.9502(T),,chr12,121437382,121437382,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser574Gly/c.1720A>G|631|HNF1A|protein_coding|CODING|NM_000545.5|9|1),"H1ESC:DNase1,HepG2:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,"RCV000016077.24,RCV000030490.1|RCV000121200.1",,1,0.9957,1,0.99,0.96,1.00,,0.042775(N),0.998(P),"-2.86,-2.86,-2.86(D,D,D)",0.0000(T),0.266,-0.627133,5.7,2.58,-0.128000,-0.004000,0.318000,0.589000,0.071000,0.204000,8.1641
synonymous_variant,C12orf43,SILENT,NM_001286191.1:p.Thr213Thr/c.639A>T,acA/acT,LOW,COSM1179682(4),0.258586,0.2748,rs3751151,,,,-0.9642(T),,chr12,121442199,121442199,T,A,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr213Thr/c.639A>T|293|C12orf43|protein_coding|CODING|NM_001286191.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr171Thr/c.513A>T|251|C12orf43|protein_coding|CODING|NM_001286196.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr182Thr/c.546A>T|262|C12orf43|protein_coding|CODING|NM_022895.2|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr183Thr/c.549A>T|263|C12orf43|protein_coding|CODING|NM_001286192.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr172Thr/c.516A>T|252|C12orf43|protein_coding|CODING|NM_001286195.1|6|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr150Thr/c.450A>T|230|C12orf43|protein_coding|CODING|NM_001286197.1|5|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr141Thr/c.423A>T|221|C12orf43|protein_coding|CODING|NM_001286198.1|7|1),downstream_gene_variant(MODIFIER||1885||631|HNF1A|protein_coding|CODING|NM_000545.5||1),non_coding_exon_variant(MODIFIER|||n.587A>T||C12orf43||CODING|NR_104409.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1493,0.196,0.3241,0.31,0.32,0.31,,,1.000(P),,0.0000(T),.,0.247414,5.28,-8.94,-1.715000,-1.292000,-1.286000,0.001000,0.000000,0.000000,1.7231
synonymous_variant,C12orf43,SILENT,NM_001286191.1:p.Ile208Ile/c.624C>T,atC/atT,LOW,,0.108826,0.251,rs3751150,,,,-1.0154(T),,chr12,121442214,121442214,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile208Ile/c.624C>T|293|C12orf43|protein_coding|CODING|NM_001286191.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile166Ile/c.498C>T|251|C12orf43|protein_coding|CODING|NM_001286196.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile177Ile/c.531C>T|262|C12orf43|protein_coding|CODING|NM_022895.2|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile178Ile/c.534C>T|263|C12orf43|protein_coding|CODING|NM_001286192.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile167Ile/c.501C>T|252|C12orf43|protein_coding|CODING|NM_001286195.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile145Ile/c.435C>T|230|C12orf43|protein_coding|CODING|NM_001286197.1|5|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile136Ile/c.408C>T|221|C12orf43|protein_coding|CODING|NM_001286198.1|7|1),downstream_gene_variant(MODIFIER||1900||631|HNF1A|protein_coding|CODING|NM_000545.5||1),non_coding_exon_variant(MODIFIER|||n.572C>T||C12orf43||CODING|NR_104409.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1196,0.0663,0.1233,0.09,0.03,0.12,,,0.000(P),,0.0000(T),.,-0.615723,5.73,1.38,-0.165000,0.322000,0.373000,0.030000,0.994000,0.993000,3.5732
synonymous_variant,C12orf43,SILENT,NM_001286191.1:p.Thr7Thr/c.21A>T,acA/acT,LOW,,0.784744,0.8601,rs2258227,,,,-1.0306(T),,chr12,121454257,121454257,T,A,hom,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr7Thr/c.21A>T|293|C12orf43|protein_coding|CODING|NM_001286191.1|1|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr7Thr/c.21A>T|263|C12orf43|protein_coding|CODING|NM_001286192.1|1|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr7Thr/c.21A>T|252|C12orf43|protein_coding|CODING|NM_001286195.1|1|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr7Thr/c.21A>T|251|C12orf43|protein_coding|CODING|NM_001286196.1|1|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr7Thr/c.21A>T|230|C12orf43|protein_coding|CODING|NM_001286197.1|1|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr7Thr/c.21A>T|262|C12orf43|protein_coding|CODING|NM_022895.2|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||221|C12orf43|protein_coding|CODING|NM_001286198.1|1|1),5_prime_UTR_variant(MODIFIER||4006|c.-363A>T|221|C12orf43|protein_coding|CODING|NM_001286198.1|1|1),non_coding_exon_variant(MODIFIER|||n.49A>T||C12orf43||CODING|NR_104409.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,K562:ETS1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,HUVEC:H3K9ac,K562:FAIRE,CD4:H4K8ac,GM12878:SIX5,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:USF1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,K562:Cmyc,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,CD4:H4K5ac,HUVEC:FAIRE,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,IMR90:H4K8ac,K562:Jund,GM12878:Sin3Ak20",,,,0.8589,0.9193,0.833,0.75,0.61,0.82,,,1.000(P),,0.0000(T),.,-0.556644,4.95,-1.55,-1.021000,-0.407000,-0.147000,0.000000,0.000000,0.000000,0.4743
synonymous_variant,OASL,SILENT,NM_003733.3:p.Leu136Leu/c.408C>T,ctC/ctT,LOW,COSM4146722(1),0.313099,0.4692,rs3213545,,,,,,chr12,121471337,121471337,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu136Leu/c.408C>T|384|OASL|protein_coding|CODING|NM_001261825.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu136Leu/c.408C>T|514|OASL|protein_coding|CODING|NM_003733.3|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu136Leu/c.408C>T|255|OASL|protein_coding|CODING|NM_198213.2|2|1)","CD4:H4K91ac,CD4:H2BK20ac,GM12878:H3K36me3,K562:H3K27me3,CD4:H3K4ac,HepG2:H3K27me3,GM06990:H3K36me3",Cardiovascular_disease_risk_factors,,,0.4274,0.2839,0.3072,0.25,0.15,0.30,,,,,,,,,,,,,,,,
splice_donor_variant,P2RX7,protein_coding,NM_002562.5:c.126G>T,,HIGH,,0.00359425,0,rs35933842,,,,,P2RX7:0.10(10);,chr12,121570899,121570899,G,T,het,"splice_donor_variant(HIGH|||c.126G>T|595|P2RX7|protein_coding|CODING|NM_002562.5|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033948.1|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033949.1|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033950.1|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033951.1|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033952.1|1|1),splice_donor_variant(HIGH|||n.278G>T||P2RX7||CODING|NR_033953.1|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033954.1|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033955.1|1|1),splice_donor_variant(HIGH|||n.269G>T||P2RX7||CODING|NR_033956.1|1|1),intron_variant(MODIFIER|||c.125+1G>T|595|P2RX7|protein_coding|CODING|NM_002562.5|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033948.1|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033949.1|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033950.1|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033951.1|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033952.1|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033954.1|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033955.1|1|1),intron_variant(MODIFIER|||n.268+1G>T||P2RX7||CODING|NR_033956.1|1|1),intron_variant(MODIFIER|||n.277+1G>T||P2RX7||CODING|NR_033953.1|1|1)","CD4:H3K9me1,CD4:H2AZ,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K4me2,CD4:H3K4me2,HSMM:H3K4me3,GM12878:DNase1,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.001,0.0058,0.0129,0.01,0.00,0.01,,,1.000(D),,,.,3.019183,4.5,4.5,0.467000,2.469000,4.355000,0.766000,0.979000,1.000000,12.883
missense_variant,P2RX7,MISSENSE,NM_002562.5:p.Tyr155His/c.463T>C,Tat/Cat,MODERATE,COSM3752966(1),0.529952,0.4137,rs208294,0.12(T),"0.808,0.949(P,D)",2.545(M),-1.1107(T),,chr12,121600253,121600253,T,C,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr155His/c.463T>C|595|P2RX7|protein_coding|CODING|NM_002562.5|5|1),intron_variant(MODIFIER|||n.579+1476T>C||P2RX7||CODING|NR_033954.1|4|1),non_coding_exon_variant(MODIFIER|||n.759T>C||P2RX7||CODING|NR_033950.1|5|1),non_coding_exon_variant(MODIFIER|||n.745T>C||P2RX7||CODING|NR_033948.1|6|1),non_coding_exon_variant(MODIFIER|||n.745T>C||P2RX7||CODING|NR_033949.1|6|1),non_coding_exon_variant(MODIFIER|||n.606T>C||P2RX7||CODING|NR_033951.1|5|1),non_coding_exon_variant(MODIFIER|||n.533T>C||P2RX7||CODING|NR_033952.1|4|1),non_coding_exon_variant(MODIFIER|||n.446T>C||P2RX7||CODING|NR_033953.1|4|1),non_coding_exon_variant(MODIFIER|||n.606T>C||P2RX7||CODING|NR_033955.1|5|1),non_coding_exon_variant(MODIFIER|||n.533T>C||P2RX7||CODING|NR_033956.1|4|1)","NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.5,0.3905,0.5557,0.60,0.69,0.55,,0.000010(D),0.000(P),"3.65,3.65,3.65(T,T,T)",0.0000(T),0.602,3.368779,5.58,5.58,0.533000,2.121000,6.416000,0.583000,0.015000,1.000000,13.6886
missense_variant,P2RX7,MISSENSE,NM_002562.5:p.Ala348Thr/c.1042G>A,Gct/Act,MODERATE,COSM430526(1),0.322484,0.1419,rs1718119,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.095(N),-0.9640(T),,chr12,121615103,121615103,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala348Thr/c.1042G>A|595|P2RX7|protein_coding|CODING|NM_002562.5|11|1),non_coding_exon_variant(MODIFIER|||n.1408G>A||P2RX7||CODING|NR_033948.1|11|1),non_coding_exon_variant(MODIFIER|||n.1285G>A||P2RX7||CODING|NR_033950.1|9|1),non_coding_exon_variant(MODIFIER|||n.1269G>A||P2RX7||CODING|NR_033951.1|10|1),non_coding_exon_variant(MODIFIER|||n.1196G>A||P2RX7||CODING|NR_033952.1|9|1),non_coding_exon_variant(MODIFIER|||n.1109G>A||P2RX7||CODING|NR_033953.1|9|1),non_coding_exon_variant(MODIFIER|||n.1324G>A||P2RX7||CODING|NR_033949.1|12|1),non_coding_exon_variant(MODIFIER|||n.1088G>A||P2RX7||CODING|NR_033954.1|10|1),non_coding_exon_variant(MODIFIER|||n.1048G>A||P2RX7||CODING|NR_033955.1|10|1),non_coding_exon_variant(MODIFIER|||n.975G>A||P2RX7||CODING|NR_033956.1|9|1)",GM06990:H3K36me3,,,,0.3476,0.2003,0.3827,0.42,0.46,0.40,,0.044240(N),0.000(P),"3.88,3.88,3.88,3.88(T,T,T,T)",0.0000(T),0.399,0.482145,5.62,5.62,-0.332000,0.980000,0.672000,0.854000,0.978000,0.976000,7.4513
missense_variant,P2RX7,MISSENSE,NM_002562.5:p.Glu496Ala/c.1487A>C,gAg/gCg,MODERATE,COSM4146723(1),0.207468,0.2669,rs3751143,0(D),"0.84,0.995,0.84,0.831(P,D,P,P)",2.52(M),-1.0499(T),,chr12,121622304,121622304,A,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu496Ala/c.1487A>C|595|P2RX7|protein_coding|CODING|NM_002562.5|13|1),non_coding_exon_variant(MODIFIER|||n.1853A>C||P2RX7||CODING|NR_033948.1|13|1),non_coding_exon_variant(MODIFIER|||n.1769A>C||P2RX7||CODING|NR_033949.1|14|1),non_coding_exon_variant(MODIFIER|||n.1730A>C||P2RX7||CODING|NR_033950.1|11|1),non_coding_exon_variant(MODIFIER|||n.1714A>C||P2RX7||CODING|NR_033951.1|12|1),non_coding_exon_variant(MODIFIER|||n.1641A>C||P2RX7||CODING|NR_033952.1|11|1),non_coding_exon_variant(MODIFIER|||n.1554A>C||P2RX7||CODING|NR_033953.1|11|1),non_coding_exon_variant(MODIFIER|||n.1533A>C||P2RX7||CODING|NR_033954.1|12|1),non_coding_exon_variant(MODIFIER|||n.1493A>C||P2RX7||CODING|NR_033955.1|12|1),non_coding_exon_variant(MODIFIER|||n.1420A>C||P2RX7||CODING|NR_033956.1|11|1)","NHEK:CTCF,H1ESC:DNase1,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",Chronic_obstructive_pulmonary_disease_related_biomarkers,,,0.3221,0.1916,0.2087,0.15,0.09,0.18,,0.000340(D),0.000(P),"4.32,3.93,4.1,3.42(T,T,T,T)",0.0000(T),0.7,4.606826,5.21,5.21,0.482000,1.967000,6.490000,0.987000,1.000000,1.000000,12.4464
missense_variant,P2RX7,MISSENSE,NM_002562.5:p.Asn568Ile/c.1703A>T,aAc/aTc,MODERATE,,0.994209,1,rs1653624,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.48(N),-0.9925(T),,chr12,121622520,121622520,A,T,hom,"missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn568Ile/c.1703A>T|595|P2RX7|protein_coding|CODING|NM_002562.5|13|1),non_coding_exon_variant(MODIFIER|||n.2069A>T||P2RX7||CODING|NR_033948.1|13|1),non_coding_exon_variant(MODIFIER|||n.1985A>T||P2RX7||CODING|NR_033949.1|14|1),non_coding_exon_variant(MODIFIER|||n.1946A>T||P2RX7||CODING|NR_033950.1|11|1),non_coding_exon_variant(MODIFIER|||n.1930A>T||P2RX7||CODING|NR_033951.1|12|1),non_coding_exon_variant(MODIFIER|||n.1857A>T||P2RX7||CODING|NR_033952.1|11|1),non_coding_exon_variant(MODIFIER|||n.1770A>T||P2RX7||CODING|NR_033953.1|11|1),non_coding_exon_variant(MODIFIER|||n.1749A>T||P2RX7||CODING|NR_033954.1|12|1),non_coding_exon_variant(MODIFIER|||n.1709A>T||P2RX7||CODING|NR_033955.1|12|1),non_coding_exon_variant(MODIFIER|||n.1636A>T||P2RX7||CODING|NR_033956.1|11|1)","NHEK:CTCF,HMEC:CTCF,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,1,0.9914,0.9791,0.98,1.00,0.98,,0.000163(N),0.000(P),"4.67,4.3,4.45,3.82(T,T,T,T)",0.0000(T),0.121,0.664399,5.47,5.47,-0.336000,0.921000,2.237000,0.963000,1.000000,0.997000,9.6809
synonymous_variant,P2RX7,SILENT,NM_002562.5:p.Pro582Pro/c.1746G>A,ccG/ccA,LOW,COSM430528(1),0.320288,0.1438,rs1621388,,,,,,chr12,121622563,121622563,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro582Pro/c.1746G>A|595|P2RX7|protein_coding|CODING|NM_002562.5|13|1),non_coding_exon_variant(MODIFIER|||n.2112G>A||P2RX7||CODING|NR_033948.1|13|1),non_coding_exon_variant(MODIFIER|||n.2028G>A||P2RX7||CODING|NR_033949.1|14|1),non_coding_exon_variant(MODIFIER|||n.1989G>A||P2RX7||CODING|NR_033950.1|11|1),non_coding_exon_variant(MODIFIER|||n.1973G>A||P2RX7||CODING|NR_033951.1|12|1),non_coding_exon_variant(MODIFIER|||n.1900G>A||P2RX7||CODING|NR_033952.1|11|1),non_coding_exon_variant(MODIFIER|||n.1813G>A||P2RX7||CODING|NR_033953.1|11|1),non_coding_exon_variant(MODIFIER|||n.1792G>A||P2RX7||CODING|NR_033954.1|12|1),non_coding_exon_variant(MODIFIER|||n.1752G>A||P2RX7||CODING|NR_033955.1|12|1),non_coding_exon_variant(MODIFIER|||n.1679G>A||P2RX7||CODING|NR_033956.1|11|1)","NHEK:CTCF,HMEC:CTCF,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.3405,0.2003,0.3837,0.40,0.44,0.38,,,,,,,,,,,,,,,,
synonymous_variant,P2RX4,SILENT,NM_001256796.1:p.Ser171Ser/c.513T>C,tcT/tcC,LOW,COSM430530(2),0.440296,0.3433,rs25643,,,,,,chr12,121660787,121660787,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser171Ser/c.513T>C|404|P2RX4|protein_coding|CODING|NM_001256796.1|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser155Ser/c.465T>C|341|P2RX4|protein_coding|CODING|NM_001261398.1|5|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser155Ser/c.465T>C|388|P2RX4|protein_coding|CODING|NM_002560.2|5|1),intron_variant(MODIFIER|||c.443+22T>C|361|P2RX4|protein_coding|CODING|NM_001261397.1|5|1),non_coding_exon_variant(MODIFIER|||n.807T>C||P2RX4||CODING|NR_046372.1|6|1),non_coding_exon_variant(MODIFIER|||n.621T>C||P2RX4||CODING|NR_046373.1|4|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.5297,0.4222,0.4751,0.45,0.45,0.45,,,,,,,,,,,,,,,,
missense_variant,P2RX4,MISSENSE,NM_001256796.1:p.Ser258Gly/c.772A>G,Agt/Ggt,MODERATE,COSM3752969(1),0.176318,0.2371,rs25644,0.03(D),"0.209,0.314,0.314(B,B,B)",2.215(M),-0.9898(T),,chr12,121666646,121666646,A,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser258Gly/c.772A>G|404|P2RX4|protein_coding|CODING|NM_001256796.1|8|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser215Gly/c.643A>G|361|P2RX4|protein_coding|CODING|NM_001261397.1|7|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser242Gly/c.724A>G|341|P2RX4|protein_coding|CODING|NM_001261398.1|7|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser242Gly/c.724A>G|388|P2RX4|protein_coding|CODING|NM_002560.2|7|1),non_coding_exon_variant(MODIFIER|||n.1066A>G||P2RX4||CODING|NR_046372.1|8|1),non_coding_exon_variant(MODIFIER|||n.880A>G||P2RX4||CODING|NR_046373.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.2579,0.1322,0.12,0.12,0.12,,0.000001(D),0.000(P),"3.6,3.6,3.6,3.6,3.6(T,T,T,T,T)",0.0000(T),0.147,2.326604,5.31,5.31,0.260000,2.012000,2.153000,0.456000,1.000000,0.941000,10.5056
missense_variant,CAMKK2,MISSENSE,NM_001270485.1:p.Arg363Cys/c.1087C>T,Cgc/Tgc,MODERATE,,0.241214,0.2778,rs1132780,0.01(D),"0.013,0.013,0.021,0.729,0.021,0.021,0.035,0.021(B,B,B,P,B,B,B,B)",1.045(L),-1.0666(T),,chr12,121691096,121691096,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|588|CAMKK2|protein_coding|CODING|NM_001270485.1|10|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|556|CAMKK2|protein_coding|CODING|NM_001270486.1|9|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|588|CAMKK2|protein_coding|CODING|NM_006549.3|10|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|541|CAMKK2|protein_coding|CODING|NM_153499.2|10|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|498|CAMKK2|protein_coding|CODING|NM_153500.1|10|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|533|CAMKK2|protein_coding|CODING|NM_172214.2|10|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|490|CAMKK2|protein_coding|CODING|NM_172215.2|10|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|545|CAMKK2|protein_coding|CODING|NM_172216.1|10|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg363Cys/c.1087C>T|541|CAMKK2|protein_coding|CODING|NM_172226.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2157,0.2839,0.1491,0.18,0.28,0.13,,0.000000(D),0.000(P),"-0.25,-0.25,-0.25,-0.25,-0.25,-0.25,-0.25,-0.25,-0.25,-0.25(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.348,2.169524,5.35,4.47,-0.119000,1.279000,2.049000,0.800000,0.998000,1.000000,9.0375
synonymous_variant,KDM2B,SILENT,NM_032590.4:p.Gln1190Gln/c.3570G>A,caG/caA,LOW,COSM3752975(1),0.334465,0.4514,rs1064951,,,,,,chr12,121878659,121878659,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1121Gln/c.3363G>A|1265|KDM2B|protein_coding|CODING|NM_001005366.1|20|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1190Gln/c.3570G>A|1336|KDM2B|protein_coding|CODING|NM_032590.4|21|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3344,0.4006,0.4046,0.32,0.19,0.38,,,,,,,,,,,,,,,,
synonymous_variant,KDM2B,SILENT,NM_032590.4:p.Asp908Asp/c.2724C>T,gaC/gaT,LOW,COSM3752979(1),0.334465,0.4534,rs3751131,,,,,,chr12,121880520,121880520,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp839Asp/c.2517C>T|1265|KDM2B|protein_coding|CODING|NM_001005366.1|18|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp908Asp/c.2724C>T|1336|KDM2B|protein_coding|CODING|NM_032590.4|19|1),downstream_gene_variant(MODIFIER||1556|||MIR7107||NON_CODING|NR_106957.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.4006,0.4046,0.32,0.19,0.38,,,,,,,,,,,,,,,,
synonymous_variant,KDM2B,SILENT,NM_032590.4:p.Tyr806Tyr/c.2418C>T,taC/taT,LOW,COSM3752980(1),0.322883,0.4435,rs10849885,,,,,,chr12,121881848,121881848,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr775Tyr/c.2325C>T|1265|KDM2B|protein_coding|CODING|NM_001005366.1|16|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr806Tyr/c.2418C>T|1336|KDM2B|protein_coding|CODING|NM_032590.4|16|1),downstream_gene_variant(MODIFIER||228|||MIR7107||NON_CODING|NR_106957.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3027,0.3919,0.3956,0.31,0.18,0.37,,,,,,,,,,,,,,,,
synonymous_variant,ORAI1,SILENT,NM_032790.3:p.Thr268Thr/c.804T>C,acT/acC,LOW,,0.555711,0.5823,rs3825175,,,,,,chr12,122079441,122079441,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr268Thr/c.804T>C|303|ORAI1|protein_coding|CODING|NM_032790.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.4755,0.3976,0.51,0.70,0.42,,,,,,,,,,,,,,,,
synonymous_variant,SETD1B,SILENT,NM_015048.1:p.Ile146Ile/c.438C>T,atC/atT,LOW,COSM4146732(1),0.748203,0.9425,rs1168666,,,,,,chr12,122243905,122243905,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile146Ile/c.438C>T|1923|SETD1B|protein_coding|CODING|NM_015048.1|3|1),"K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.8845,0.8372,0.8101,0.71,0.47,0.81,,,,,,,,,,,,,,,,
synonymous_variant,SETD1B,SILENT,NM_015048.1:p.Leu577Leu/c.1731C>G,ctC/ctG,LOW,COSM3752981(2),0.820687,0.9802,rs895952,,,,,,chr12,122248582,122248582,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu577Leu/c.1731C>G|1923|SETD1B|protein_coding|CODING|NM_015048.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9233,0.866,0.8221,0.76,0.64,0.82,,,,,,,,,,,,,,,,
synonymous_variant,SETD1B,SILENT,NM_015048.1:p.Ala1614Ala/c.4842G>A,gcG/gcA,LOW,COSM3765624(2),0.372005,0.5427,rs3741593,,,,,,chr12,122261456,122261456,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1614Ala/c.4842G>A|1923|SETD1B|protein_coding|CODING|NM_015048.1|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4315,0.4798,0.5199,0.41,0.10,0.55,,,,,,,,,,,,,,,,
missense_variant,HPD,MISSENSE,NM_002150.2:p.Thr33Ala/c.97A>G,Acg/Gcg,MODERATE,COSM3736057(1),0.876398,0.871,rs1154510,1(T),,,-0.9451(T),,chr12,122295335,122295335,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr33Ala/c.97A>G|393|HPD|protein_coding|CODING|NM_002150.2|4|1),5_prime_UTR_variant(MODIFIER||21|c.-21A>G|354|HPD|protein_coding|CODING|NM_001171993.1|6|1)","HepG2:RXRA,HepG2:ELF1,HepG2:p300,HepG2:H3K27ac,HepG2:PolII,HepG2:SP1,HepG2:HNF4A,HepG2:FOSL2,HepG2:H3K36me3,HepG2:FOXA1,HepG2:DNase1,HepG2:Yy1,HepG2:Jund",,RCV000001643.1,,0.8548,0.7522,0.8718,0.90,0.96,0.87,,0.000000(N),0.000(P),-0.38(T),0.0000(T),0.346,0.927324,5.48,5.48,-0.227000,1.471000,3.897000,0.053000,0.865000,0.997000,12.8675
missense_variant,PSMD9,MISSENSE,NM_002813.6:p.Val17Ala/c.50T>C,gTc/gCc,MODERATE,COSM3752982(1),0.833666,0.875,rs2230681,0.8(T),"0.0,0.0(B,B)",-1.01(N),-1.0340(T),,chr12,122326812,122326812,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val17Ala/c.50T>C|118|PSMD9|protein_coding|CODING|NM_001261400.2|1|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val17Ala/c.50T>C|223|PSMD9|protein_coding|CODING|NM_002813.6|1|1),upstream_gene_variant(MODIFIER||295||354|HPD|protein_coding|CODING|NM_001171993.1||1),non_coding_exon_variant(MODIFIER|||n.176T>C||PSMD9||CODING|NR_048555.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,CD4:CBP,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,HepG2:p300,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:SIX5,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,CD4:H2AK9ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,GM12878:EBF,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.8487,0.7349,0.8728,0.86,0.84,0.87,,0.215414(N),1.000(P),"2.4,2.4,2.4,2.4,2.4(T,T,T,T,T)",0.0000(T),0.197,1.121088,4.72,-0.448,-1.032000,-0.439000,-0.092000,0.004000,0.000000,0.001000,9.1413
synonymous_variant,BCL7A,SILENT,NM_020993.3:p.Leu210Leu/c.628T>C,Ttg/Ctg,LOW,,0.505391,0.4921,rs28629903,,,,,,chr12,122497001,122497001,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|210|BCL7A|protein_coding|CODING|NM_001024808.1|6|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu210Leu/c.628T>C|231|BCL7A|protein_coding|CODING|NM_020993.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5736,0.6196,0.5795,0.50,0.38,0.56,,,,,,,,,,,,,,,,
missense_variant,MLXIP,MISSENSE,NM_014938.5:p.Glu396Gly/c.1187A>G,gAg/gGg,MODERATE,,0.455871,0.3581,rs7978353,0.59(T),"0.001,0.0(B,B)",,-0.9260(T),,chr12,122617989,122617989,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu396Gly/c.1187A>G|919|MLXIP|protein_coding|CODING|NM_014938.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.5072,0.3934,0.4742,0.42,0.49,0.39,,0.012813(N),1.000(P),"2.51,1.96,1.51(T,T,T)",0.0000(T),0.035,0.159087,5.04,-0.212,-0.898000,-0.658000,0.805000,0.006000,0.000000,0.265000,6.0635
synonymous_variant,MLXIP,SILENT,NM_014938.5:p.Pro443Pro/c.1329A>G,ccA/ccG,LOW,,0.22524,0.2738,rs36045144,,,,,,chr12,122618131,122618131,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro443Pro/c.1329A>G|919|MLXIP|protein_coding|CODING|NM_014938.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.2178,0.1974,0.2306,0.18,0.18,0.18,,,,,,,,,,,,,,,,
synonymous_variant,MLXIP,SILENT,NM_014938.5:p.Pro497Pro/c.1491C>T,ccC/ccT,LOW,,0.00299521,0,rs73219856,,,,,,chr12,122618293,122618293,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro497Pro/c.1491C>T|919|MLXIP|protein_coding|CODING|NM_014938.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0,0.0119,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,MLXIP,MISSENSE,NM_014938.5:p.Met737Val/c.2209A>G,Atg/Gtg,MODERATE,,0.00898562,0,rs74580294,0.71(T),0.03(B),,0.1519(D),,chr12,122622795,122622795,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met737Val/c.2209A>G|919|MLXIP|protein_coding|CODING|NM_014938.5|13|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0041,0.0086,0.0348,0.03,0.01,0.04,,0.000002(D),1.000(D),"-4.54,-4.54,-4.54(D,D,D)",0.4966(T),0.197,2.652400,5.15,5.15,0.459000,1.945000,3.923000,0.949000,1.000000,1.000000,13.5458
synonymous_variant,MLXIP,SILENT,NM_014938.5:p.Thr762Thr/c.2286T>C,acT/acC,LOW,COSM3752990(1),0.545927,0.4931,rs4758686,,,,-0.9645(T),,chr12,122623000,122623000,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr762Thr/c.2286T>C|919|MLXIP|protein_coding|CODING|NM_014938.5|14|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5429,0.6081,0.5596,0.52,0.54,0.51,,,0.000(P),,0.0000(T),.,1.062615,5.03,-9.09,-2.078000,-1.934000,-2.579000,0.920000,0.659000,0.000000,4.0873
synonymous_variant,LRRC43,SILENT,NM_001098519.1:p.Arg248Arg/c.744G>A,cgG/cgA,LOW,,0.649161,0.9008,rs4758651,,,,,,chr12,122674758,122674758,G,A,hom,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg248Arg/c.744G>A|656|LRRC43|protein_coding|CODING|NM_001098519.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg63Arg/c.189G>A|471|LRRC43|protein_coding|CODING|NM_152759.4|5|1)",HepG2:H3K27me3,,,,0.729,0.6383,0.7326,0.62,0.41,0.72,,,,,,,,,,,,,,,,
synonymous_variant,LRRC43,SILENT,NM_001098519.1:p.Arg330Arg/c.988A>C,Agg/Cgg,LOW,,0.294529,0.7123,rs11060167,,,,,,chr12,122676013,122676013,A,C,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg330Arg/c.988A>C|656|LRRC43|protein_coding|CODING|NM_001098519.1|6|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg145Arg/c.433A>C|471|LRRC43|protein_coding|CODING|NM_152759.4|6|1)",HepG2:H3K27me3,,,,0.316,0.1772,0.2316,0.21,0.09,0.26,,,,,,,,,,,,,,,,
missense_variant,B3GNT4,MISSENSE,NM_030765.2:p.Pro6Ala/c.16C>G,Cct/Gct,MODERATE,,0.454872,0.6706,rs7136356,0.24(T),0.001(B),0.345(N),-0.9319(T),,chr12,122689181,122689181,C,G,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro6Ala/c.16C>G|378|B3GNT4|protein_coding|CODING|NM_030765.2|2|1),downstream_gene_variant(MODIFIER||1163||656|LRRC43|protein_coding|CODING|NM_001098519.1||1),downstream_gene_variant(MODIFIER||1163||471|LRRC43|protein_coding|CODING|NM_152759.4||1)","K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4877,0.2752,0.2684,0.35,0.46,0.30,,0.012079(N),1.000(P),1.51(T),0.0000(T),0.107,0.261747,1.27,0.349,0.313000,0.106000,-0.098000,0.444000,0.001000,0.000000,3.4869
synonymous_variant,B3GNT4,SILENT,NM_030765.2:p.Arg314Arg/c.940C>A,Cgg/Agg,LOW,,0.99361,1,rs4758675,,,,,,chr12,122691738,122691738,C,A,hom,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg314Arg/c.940C>A|378|B3GNT4|protein_coding|CODING|NM_030765.2|3|1),downstream_gene_variant(MODIFIER||471||142|DIABLO|protein_coding|CODING|NM_001278302.1||1),downstream_gene_variant(MODIFIER||471||166|DIABLO|protein_coding|CODING|NM_001278303.1||1),downstream_gene_variant(MODIFIER||471||186|DIABLO|protein_coding|CODING|NM_001278304.1||1),downstream_gene_variant(MODIFIER||471||195|DIABLO|protein_coding|CODING|NM_001278342.1||1),downstream_gene_variant(MODIFIER||471||239|DIABLO|protein_coding|CODING|NM_019887.5||1),downstream_gene_variant(MODIFIER||471||186|DIABLO|protein_coding|CODING|NM_138930.3||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.999,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,CLIP1,MISSENSE,NM_001247997.1:p.Asp1080Glu/c.3240C>G,gaC/gaG,MODERATE,,0.40655,0.3889,rs1129167,1(T),"0.001,0.001,0.0(B,B,B)",0(N),-0.9305(T),,chr12,122812503,122812503,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1080Glu/c.3240C>G|1438|CLIP1|protein_coding|CODING|NM_001247997.1|17|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1069Glu/c.3207C>G|1427|CLIP1|protein_coding|CODING|NM_002956.2|16|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp1034Glu/c.3102C>G|1392|CLIP1|protein_coding|CODING|NM_198240.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5777,0.5159,0.6412,0.47,0.16,0.63,,0.000010(N),0.000(P),"1.26,1.26,1.26,1.26,1.26(T,T,T,T,T)",0.0000(T),0.061,-1.209154,5.65,0.728,-0.137000,0.062000,0.280000,0.028000,0.916000,0.998000,1.7014
missense_variant,KNTC1,MISSENSE,NM_014708.4:p.Lys245Asn/c.735G>T,aaG/aaT,MODERATE,COSM3753000(1),0.134185,0.006,rs7968222,0.41(T),"0.157,0.236(B,B)",1.61(L),-0.9537(T),,chr12,123030788,123030788,G,T,het,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys245Asn/c.735G>T|2209|KNTC1|protein_coding|CODING|NM_014708.4|9|1),"H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:DNase1",,,,0.1176,0.0735,0.1014,0.16,0.27,0.10,,0.010674(N),0.000(P),"0.92,0.92(T,T)",0.0000(T),0.062,2.047297,5.51,4.61,0.650000,1.322000,1.372000,0.994000,1.000000,1.000000,7.5578
missense_variant,KNTC1,MISSENSE,NM_014708.4:p.Val2021Gly/c.6062T>G,gTg/gGg,MODERATE,COSM3753002(1),0.0527157,0.003,rs11837038,0(D),"0.989,0.898(D,P)",1.935(M),-0.9476(T),,chr12,123102921,123102921,T,G,het,missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val2021Gly/c.6062T>G|2209|KNTC1|protein_coding|CODING|NM_014708.4|58|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1155,0.0432,0.0994,0.08,0.03,0.10,,0.001011(N),0.000(P),"1.27,1.27,1.27(T,T,T)",0.0053(T),0.813,4.511727,5.9,5.9,0.460000,2.254000,2.605000,0.959000,0.987000,1.000000,10.3579
missense_variant,HCAR3,MISSENSE,NM_006018.2:p.Ile346Met/c.1038C>G,atC/atG,MODERATE,COSM4146765(1),0.895966,0.8393,rs56308926,0.58(T),0.0(B),,-0.9921(T),,chr12,123200247,123200247,G,C,hom,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile346Met/c.1038C>G|387|HCAR3|protein_coding|CODING|NM_006018.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.7536,0.9481,0.9324,0.94,0.98,0.93,,,1.000(P),0.03(T),0.0000(T),0.027,0.323462,2.99,-0.682,-1.123000,-0.210000,-0.387000,0.106000,0.000000,0.000000,8.7003
missense_variant,HCAR3,MISSENSE,NM_006018.2:p.Arg311Cys/c.931C>T,Cgc/Tgc,MODERATE,,,,rs200905183,0.3(T),0.016(B),0.735(N),-1.0404(T),,chr12,123200354,123200354,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg311Cys/c.931C>T|387|HCAR3|protein_coding|CODING|NM_006018.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,,,,0.12,0.03,0.17,,,1.000(N),1.33(T),0.0002(T),0.121,0.261672,3.26,1.96,0.184000,1.514000,1.250000,0.456000,0.927000,0.352000,3.6353
missense_variant,HCAR3,MISSENSE,NM_006018.2:p.Phe198Leu/c.592T>C,Ttc/Ctc,MODERATE,COSM1359644(1),0.463858,0.495,rs17884481,0.83(T),0.305(B),,-0.9576(T),,chr12,123200693,123200693,A,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe198Leu/c.592T>C|387|HCAR3|protein_coding|CODING|NM_006018.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2873,0.4409,0.5716,,,,,,0.000(P),-0.46(T),0.0000(T),0.138,1.867061,3.41,2.2,0.155000,0.289000,0.279000,0.626000,0.996000,0.368000,7.2126
missense_variant,HCAR3,MISSENSE,NM_006018.2:p.Thr173Pro/c.517A>C,Act/Cct,MODERATE,COSM147629(1),0.464058,0.495,rs1798192,0.09(T),0.005(B),,-0.9225(T),,chr12,123200768,123200768,T,G,het,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr173Pro/c.517A>C|387|HCAR3|protein_coding|CODING|NM_006018.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2883,0.4409,0.5716,0.55,0.51,0.57,,,1.000(P),1.22(T),0.0000(T),0.017,-0.840675,2.99,-4.69,0.155000,-1.206000,-0.594000,0.138000,0.000000,0.000000,5.7314
synonymous_variant,HCAR3,SILENT,NM_006018.2:p.Ile116Ile/c.348A>C,atA/atC,LOW,,0.463658,0.495,rs1696352,,,,,,chr12,123200937,123200937,T,G,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile116Ile/c.348A>C|387|HCAR3|protein_coding|CODING|NM_006018.2|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2853,0.4409,0.5726,0.55,0.51,0.57,,,,,,,,,,,,,,,,
synonymous_variant,HIP1R,SILENT,NM_003959.1:p.Tyr70Tyr/c.210C>T,taC/taT,LOW,COSM430595(1),0.780551,0.754,rs2135014,,,,,,chr12,123333065,123333065,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr70Tyr/c.210C>T|1068|HIP1R|protein_coding|CODING|NM_003959.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6912,0.9222,0.8648,0.85,0.77,0.89,,,,,,,,,,,,,,,,
missense_variant,HIP1R,MISSENSE,NM_003959.1:p.Cys938Phe/c.2813G>T,tGt/tTt,MODERATE,,0.0119808,0,rs34149579,0(D),0.954(D),1.385(L),-1.0001(T),,chr12,123345509,123345509,G,T,het,missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys938Phe/c.2813G>T|1068|HIP1R|protein_coding|CODING|NM_003959.1|29|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.0133,0.0159,0.0358,0.04,0.01,0.05,,0.000020(D),1.000(D),0.88(T),0.0498(T),0.45,2.395140,5.52,4.6,0.561000,1.273000,3.316000,0.088000,0.809000,1.000000,15.014
synonymous_variant,HIP1R,SILENT,NM_003959.1:p.Thr983Thr/c.2949C>G,acC/acG,LOW,COSM4146773(1),0.887979,0.9901,rs10847910,,,,-1.0259(T),,chr12,123345736,123345736,C,G,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr983Thr/c.2949C>G|1068|HIP1R|protein_coding|CODING|NM_003959.1|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.8497,0.964,0.9364,0.90,0.80,0.95,,,0.000(P),,0.0000(T),.,1.421643,5.38,-1.11,0.462000,-0.087000,-0.314000,0.941000,0.996000,0.372000,3.8132
synonymous_variant,MPHOSPH9,SILENT,NM_022782.3:p.Tyr1087Tyr/c.3261C>T,taC/taT,LOW,,0.633187,0.9772,rs1051431,,,,,,chr12,123645803,123645803,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1087Tyr/c.3261C>T|1183|MPHOSPH9|protein_coding|CODING|NM_022782.3|22|1),non_coding_exon_variant(MODIFIER|||n.3322C>T||MPHOSPH9||CODING|NR_103517.1|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.7262,0.7684,0.61,0.26,0.79,,,,,,,,,,,,,,,,
synonymous_variant,MPHOSPH9,SILENT,NM_022782.3:p.Asn771Asn/c.2313C>T,aaC/aaT,LOW,COSM3753014(1),0.393371,0.6855,rs1727301,,,,,,chr12,123664514,123664514,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn771Asn/c.2313C>T|1183|MPHOSPH9|protein_coding|CODING|NM_022782.3|15|1),non_coding_exon_variant(MODIFIER|||n.2374C>T||MPHOSPH9||CODING|NR_103517.1|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.4179,0.3956,0.28,0.08,0.38,,,,,,,,,,,,,,,,
synonymous_variant,SBNO1,SILENT,NM_001167856.1:p.Gly1022Gly/c.3066T>C,ggT/ggC,LOW,COSM4146784(1),0.685104,0.9544,rs6488868,,,,,,chr12,123799974,123799974,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1022Gly/c.3066T>C|1393|SBNO1|protein_coding|CODING|NM_001167856.1|22|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1021Gly/c.3063T>C|1392|SBNO1|protein_coding|CODING|NM_018183.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.68,0.6916,0.7217,0.66,0.49,0.75,,,,,,,,,,,,,,,,
synonymous_variant,SBNO1,SILENT,NM_001167856.1:p.Ile567Ile/c.1701C>T,atC/atT,LOW,,0.493411,0.7004,rs61388686,,,,,,chr12,123810873,123810873,G,A,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile567Ile/c.1701C>T|1393|SBNO1|protein_coding|CODING|NM_001167856.1|13|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile566Ile/c.1698C>T|1392|SBNO1|protein_coding|CODING|NM_018183.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6309,0.5836,0.664,0.51,0.16,0.69,,,,,,,,,,,,,,,,
synonymous_variant,RILPL1,SILENT,NM_178314.3:p.Asn143Asn/c.429T>C,aaT/aaC,LOW,,0.817692,0.9097,rs2292500,,,,,,chr12,124008073,124008073,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn143Asn/c.429T>C|403|RILPL1|protein_coding|CODING|NM_178314.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8364,0.8804,0.8638,0.79,0.68,0.84,,,,,,,,,,,,,,,,
synonymous_variant,TMED2,SILENT,NM_006815.3:p.Leu10Leu/c.30T>C,ctT/ctC,LOW,,0.989018,1,rs786446,,,,,,chr12,124069213,124069213,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu10Leu/c.30T>C|201|TMED2|protein_coding|CODING|NM_006815.3|1|1),upstream_gene_variant(MODIFIER||339|||LOC101927415||NON_CODING|NR_110049.2||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Nrsf,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Nrsf,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,1,0.9942,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,DDX55,MISSENSE,NM_020936.1:p.Asn264Ser/c.791A>G,aAt/aGt,MODERATE,,0.152157,0.0298,rs11057306,1(T),"0.001,0.001,0.001(B,B,B)",-0.415(N),-1.0727(T),,chr12,124097766,124097766,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn264Ser/c.791A>G|600|DDX55|protein_coding|CODING|NM_020936.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.098,0.1153,0.20,0.33,0.13,,0.000067(N),0.000(P),"3.6,-2.98(T,D)",0.0000(T),0.063,-0.125027,5.86,3.52,0.533000,0.491000,3.735000,0.884000,0.730000,0.999000,9.5337
synonymous_variant,GTF2H3,SILENT,NM_001516.4:p.Pro246Pro/c.738A>G,ccA/ccG,LOW,,0.351038,0.0615,rs1051793,,,,,,chr12,124144395,124144395,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro203Pro/c.609A>G|265|GTF2H3|protein_coding|CODING|NM_001271866.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro205Pro/c.615A>G|267|GTF2H3|protein_coding|CODING|NM_001271867.1|10|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro100Pro/c.300A>G|162|GTF2H3|protein_coding|CODING|NM_001271868.1|10|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro246Pro/c.738A>G|308|GTF2H3|protein_coding|CODING|NM_001516.4|11|1)","NHEK:H3K27ac,H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.304,0.3817,0.47,0.59,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TCTN2,SILENT,NM_024809.4:p.Pro376Pro/c.1128T>C,ccT/ccC,LOW,,0.482228,0.1508,rs7966867,,,,,,chr12,124179417,124179417,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro375Pro/c.1125T>C|696|TCTN2|protein_coding|CODING|NM_001143850.2|10|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro376Pro/c.1128T>C|697|TCTN2|protein_coding|CODING|NM_024809.4|10|1)","NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000114225.2,,0.4417,0.366,0.4185,0.57,0.82,0.45,,,,,,,,,,,,,,,,
synonymous_variant,ATP6V0A2,SILENT,NM_012463.3:p.Asn142Asn/c.426T>C,aaT/aaC,LOW,COSM3753015(1),0.750998,0.9474,rs1139789,,,,,,chr12,124209332,124209332,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn142Asn/c.426T>C|856|ATP6V0A2|protein_coding|CODING|NM_012463.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081551.1,,0.7249,0.7723,0.6282,0.65,0.68,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ATP6V0A2,SILENT,NM_012463.3:p.Ser157Ser/c.471T>C,agT/agC,LOW,COSM3753016(1),0.7498,0.9474,rs1399961,,,,,,chr12,124210782,124210782,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser157Ser/c.471T>C|856|ATP6V0A2|protein_coding|CODING|NM_012463.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081553.1,,0.7249,0.7709,0.6233,0.64,0.68,0.62,,,,,,,,,,,,,,,,
missense_variant,DNAH10,MISSENSE,NM_207437.3:p.Ser167Pro/c.499T>C,Tct/Cct,MODERATE,,0.713259,0.9573,rs11057353,0.34(T),0.0(B),0.345(N),-1.0041(T),,chr12,124265687,124265687,T,C,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser167Pro/c.499T>C|4471|DNAH10|protein_coding|CODING|NM_207437.3|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.7474,0.7032,0.6769,0.61,0.56,0.63,,,1.000(P),1.93(T),0.0000(T),0.025,1.094813,5.3,-10.6,-0.696000,-2.568000,-2.199000,0.004000,0.000000,0.000000,15.1095
synonymous_variant,DNAH10,SILENT,NM_207437.3:p.Ser236Ser/c.708T>C,tcT/tcC,LOW,,0.801318,0.996,rs11057355,,,,,,chr12,124267703,124267703,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser236Ser/c.708T>C|4471|DNAH10|protein_coding|CODING|NM_207437.3|7|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3",,,,0.773,0.7262,0.6451,0.67,0.79,0.60,,,,,,,,,,,,,,,,
missense_variant,DNAH10,MISSENSE,NM_207437.3:p.Ile480Val/c.1438A>G,Att/Gtt,MODERATE,,0.837859,0.998,rs10846559,,0.001(B),-1.9(N),-0.9602(T),,chr12,124274474,124274474,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile480Val/c.1438A>G|4471|DNAH10|protein_coding|CODING|NM_207437.3|11|1),splice_region_variant(LOW|||c.1438A>G|4471|DNAH10|protein_coding|CODING|NM_207437.3|11|1)",NHEK:H3K27me3,,,,0.7935,0.7738,0.7127,0.73,0.85,0.67,,0.097259(N),1.000(P),0.54(T),0.0000(T),0.013,-1.060517,5.2,5.2,-0.222000,1.222000,3.354000,0.431000,0.973000,1.000000,12.3487
missense_variant,DNAH10,MISSENSE,NM_207437.3:p.Leu1631Val/c.4891T>G,Ttg/Gtg,MODERATE,,0.786142,0.5327,rs4930729,1(T),0.0(B),-1.97(N),-0.8638(T),,chr12,124325977,124325977,T,G,hom,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu1631Val/c.4891T>G|4471|DNAH10|protein_coding|CODING|NM_207437.3|29|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.6534,0.8429,0.8867,0.92,0.96,0.90,,0.023468(N),1.000(P),0.55(T),0.0000(T),0.051,-1.741338,5.23,-5.3,-1.169000,-1.395000,-0.302000,0.081000,0.005000,0.000000,15.9309
missense_variant,DNAH10,MISSENSE,NM_207437.3:p.Thr1724Met/c.5171C>T,aCg/aTg,MODERATE,COSM3753017(1),0.0509185,0.001,rs34934281,0.08(T),0.069(B),2.475(M),-1.0738(T),,chr12,124330311,124330311,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1724Met/c.5171C>T|4471|DNAH10|protein_coding|CODING|NM_207437.3|30|1),IMR90:H3K27me3,,,,0.0501,0.0865,0.1322,0.09,0.02,0.12,,0.001488(U),0.090(P),1.93(T),0.0014(T),0.196,0.860907,5.77,4.89,-0.215000,1.459000,2.540000,0.042000,0.462000,0.947000,15.0778
synonymous_variant,DNAH10,SILENT,NM_207437.3:p.Ser4318Ser/c.12954C>T,agC/agT,LOW,,0.260583,0.123,rs4930721,,,,,,chr12,124417889,124417889,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser4318Ser/c.12954C>T|4471|DNAH10|protein_coding|CODING|NM_207437.3|76|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2004,0.3228,0.3479,0.31,0.31,0.31,,,,,,,,,,,,,,,,
missense_variant,CCDC92,MISSENSE,NM_025140.1:p.Ser70Cys/c.208A>T,Agt/Tgt,MODERATE,COSM1359878(3),0.250399,0.0794,rs11057401,0.01(D),0.971(D),2.44(M),-1.0558(T),,chr12,124427306,124427306,T,A,het,missense_variant(MODERATE|MISSENSE|Agt/Tgt|p.Ser70Cys/c.208A>T|331|CCDC92|protein_coding|CODING|NM_025140.1|4|1),"HSMM:H3K27ac,HUVEC:H3K36me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1953,0.3184,0.3489,0.31,0.32,0.31,,0.000694(D),0.000(P),"0.86,0.86,0.86,0.86,0.86,0.86(T,T,T,T,T,T)",0.0000(T),0.269,4.429598,5.76,3.44,0.533000,0.469000,3.019000,0.968000,0.670000,1.000000,9.4934
synonymous_variant,NCOR2,SILENT,NM_006312.5:p.Leu1541Leu/c.4623G>A,ctG/ctA,LOW,COSM3749203(3),0.582268,0.5149,rs1263992,,,,,,chr12,124829234,124829234,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1531Leu/c.4593G>A|2458|NCOR2|protein_coding|CODING|NM_001077261.3|33|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1531Leu/c.4593G>A|2504|NCOR2|protein_coding|CODING|NM_001206654.1|33|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1541Leu/c.4623G>A|2514|NCOR2|protein_coding|CODING|NM_006312.5|34|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7065,0.5303,0.7316,0.67,0.53,0.73,,,,,,,,,,,,,,,,
synonymous_variant,NCOR2,SILENT,NM_006312.5:p.Gly1534Gly/c.4602T>C,ggT/ggC,LOW,COSM3749204(8),0.539936,0.3651,rs1244085,,,,,,chr12,124829255,124829255,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1524Gly/c.4572T>C|2458|NCOR2|protein_coding|CODING|NM_001077261.3|33|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1524Gly/c.4572T>C|2504|NCOR2|protein_coding|CODING|NM_001206654.1|33|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1534Gly/c.4602T>C|2514|NCOR2|protein_coding|CODING|NM_006312.5|34|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.5692,0.7306,,,,,,,,,,,,,,,,,,,
synonymous_variant,NCOR2,SILENT,NM_006312.5:p.Ala919Ala/c.2757T>C,gcT/gcC,LOW,COSM430660(2),0.315096,0.0843,rs7961196,,,,,,chr12,124856618,124856618,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala901Ala/c.2703T>C|2458|NCOR2|protein_coding|CODING|NM_001077261.3|21|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala901Ala/c.2703T>C|2504|NCOR2|protein_coding|CODING|NM_001206654.1|21|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala919Ala/c.2757T>C|2514|NCOR2|protein_coding|CODING|NM_006312.5|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3456,0.2709,0.34,0.36,0.42,0.33,,,,,,,,,,,,,,,,
synonymous_variant,NCOR2,SILENT,NM_006312.5:p.Thr905Thr/c.2715A>T,acA/acT,LOW,COSM4146802(1),0.385184,0.1677,rs3741513,,,,,,chr12,124856660,124856660,T,A,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr887Thr/c.2661A>T|2458|NCOR2|protein_coding|CODING|NM_001077261.3|21|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr887Thr/c.2661A>T|2504|NCOR2|protein_coding|CODING|NM_001206654.1|21|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr905Thr/c.2715A>T|2514|NCOR2|protein_coding|CODING|NM_006312.5|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4397,0.5893,0.5805,0.53,0.36,0.61,,,,,,,,,,,,,,,,
missense_variant,NCOR2,MISSENSE,NM_006312.5:p.Gly781Glu/c.2342G>A,gGg/gAg,MODERATE,COSM3753022(2),0.0806709,0,rs7978237,1(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0304(T),,chr12,124857033,124857033,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly763Glu/c.2288G>A|2458|NCOR2|protein_coding|CODING|NM_001077261.3|21|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly763Glu/c.2288G>A|2504|NCOR2|protein_coding|CODING|NM_001206654.1|21|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly781Glu/c.2342G>A|2514|NCOR2|protein_coding|CODING|NM_006312.5|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0665,0.1513,0.1233,0.12,0.07,0.14,,0.548362(N),1.000(P),"2.39,1.99,2.38,1.99,1.99,1.99,1.64,1.11(T,T,T,T,T,T,T,T)",0.0003(T),0.221,0.744878,3.57,-0.616,-0.361000,-0.080000,0.568000,0.028000,0.003000,0.001000,2.1611
synonymous_variant,NCOR2,SILENT,NM_006312.5:p.Gly3Gly/c.9A>C,ggA/ggC,LOW,COSM3765632(1),0.126597,0.1865,rs872225,,,,,,chr12,124979789,124979789,T,G,het,"synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly3Gly/c.9A>C|2458|NCOR2|protein_coding|CODING|NM_001077261.3|3|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly3Gly/c.9A>C|2504|NCOR2|protein_coding|CODING|NM_001206654.1|3|1),synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly3Gly/c.9A>C|2514|NCOR2|protein_coding|CODING|NM_006312.5|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.1182,0.1849,0.14,0.06,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SCARB1,SILENT,NM_005505.4:p.Ala350Ala/c.1050T>C,gcT/gcC,LOW,COSM3753029(2),0.677117,0.7599,rs5888,,,,,,chr12,125284748,125284748,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala350Ala/c.1050T>C|506|SCARB1|protein_coding|CODING|NM_001082959.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala350Ala/c.1050T>C|509|SCARB1|protein_coding|CODING|NM_005505.4|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.6715,0.5417,0.62,0.82,0.52,,,,,,,,,,,,,,,,
synonymous_variant,UBC,SILENT,NM_021009.6:p.Gln610Gln/c.1830A>G,caA/caG,LOW,COSM4146805(2),,,rs1071727,,,,,,chr12,125396488,125396488,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln610Gln/c.1830A>G|685|UBC|protein_coding|CODING|NM_021009.6|2|1),"NHEK:H3K9ac,HSMM:H4K20me1,H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H4K20me1,IMR90:H3K4me2,HepG2:H4K20me1,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,K562:H4K20me1,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,HeLa-S3:H4K20me1,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,UBC,SILENT,NM_021009.6:p.Thr318Thr/c.954T>C,acT/acC,LOW,COSM3811432(1),0.460463,0.2083,rs8963,,,,,,chr12,125397364,125397364,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr318Thr/c.954T>C|685|UBC|protein_coding|CODING|NM_021009.6|2|1),"NHEK:H3K9ac,NHEK:H3K27ac,HSMM:H4K20me1,H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H4K20me1,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H4K20me1,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,IMR90:H4K20me1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,K562:H4K20me1,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,HeLa-S3:H4K20me1,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.7209,0.5476,0.7714,,,,,,,,,,,,,,,,,,,
missense_variant,UBC,MISSENSE,NM_021009.6:p.Ser190Pro/c.568T>C,Tct/Cct,MODERATE,,1,1,rs7137123,1(T),"0.0,0.0(B,B)",-1.985(N),-0.9618(T),,chr12,125397750,125397750,A,G,hom,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser190Pro/c.568T>C|685|UBC|protein_coding|CODING|NM_021009.6|2|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HSMM:H4K20me1,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K4me1,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H4K20me1,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H4K20me1,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,GM12878:H4K20me1,K562:H4K20me1,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,HeLa-S3:H4K20me1,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,1,1,1,,,,,0.000153(N),0.000(P),"-0.52,-0.52,-0.52,-0.52(T,T,T,T)",0.0000(T),0.165,-1.003598,2.42,2.42,-0.245000,0.615000,3.176000,0.766000,0.864000,1.000000,7.7035
synonymous_variant,UBC,SILENT,NM_021009.6:p.Val93Val/c.279C>G,gtC/gtG,LOW,,0.464257,0.2202,rs1071862,,,,,,chr12,125398039,125398039,G,C,hom,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val93Val/c.279C>G|685|UBC|protein_coding|CODING|NM_021009.6|2|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HSMM:H4K20me1,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K4me1,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H4K20me1,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H4K20me1,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,K562:H4K20me1,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,HeLa-S3:H4K20me1,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.7229,0.549,0.7763,0.61,0.27,0.79,,,,,,,,,,,,,,,,
missense_variant,DHX37,MISSENSE,NM_032656.3:p.Arg1081Gln/c.3242G>A,cGg/cAg,MODERATE,COSM3753030(1),0.648363,0.8452,rs4447263,0.34(T),"0.005,0.003(B,B)",1.24(L),-0.9029(T),,chr12,125434580,125434580,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1081Gln/c.3242G>A|1157|DHX37|protein_coding|CODING|NM_032656.3|25|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.6643,0.6004,0.53,0.41,0.59,,0.835953(N),1.000(P),"4.12,4.04(T,T)",0.0000(T),0.055,1.487000,5.64,-8.3,-1.377000,-2.257000,-0.027000,0.019000,0.000000,0.001000,27.6937
synonymous_variant,DHX37,SILENT,NM_032656.3:p.Ala1065Ala/c.3195C>T,gcC/gcT,LOW,COSM430674(3),0.258786,0.5605,rs386590846,,,,,,chr12,125434716,125434716,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1065Ala/c.3195C>T|1157|DHX37|protein_coding|CODING|NM_032656.3|24|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2587,0.268,0.2197,0.18,0.08,0.23,,,,,,,,,,,,,,,,
synonymous_variant,DHX37,SILENT,NM_032656.3:p.Ala931Ala/c.2793A>G,gcA/gcG,LOW,COSM3721474(3),0.65615,0.8462,rs4429156,,,,,,chr12,125437019,125437019,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala931Ala/c.2793A>G|1157|DHX37|protein_coding|CODING|NM_032656.3|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.6571,0.5994,0.54,0.44,0.59,,,,,,,,,,,,,,,,
missense_variant,DHX37,MISSENSE,NM_032656.3:p.Ser869Gly/c.2605A>G,Agc/Ggc,MODERATE,COSM203005(3),0.655751,0.8462,rs4516060,1(T),0.0(B),-1.83(N),-1.0124(T),,chr12,125438516,125438516,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser869Gly/c.2605A>G|1157|DHX37|protein_coding|CODING|NM_032656.3|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.6513,0.5994,0.54,0.44,0.59,,0.000000(N),0.989(P),"4.31,4.31(T,T)",0.0000(T),0.055,-0.184466,5.24,5.24,-0.355000,1.222000,5.545000,0.052000,0.837000,1.000000,13.7179
synonymous_variant,DHX37,SILENT,NM_032656.3:p.Glu866Glu/c.2598G>A,gaG/gaA,LOW,COSM203006(1),0.65635,0.8462,rs4258464,,,,,,chr12,125438523,125438523,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu866Glu/c.2598G>A|1157|DHX37|protein_coding|CODING|NM_032656.3|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.6571,0.5984,0.53,0.44,0.58,,,,,,,,,,,,,,,,
synonymous_variant,DHX37,SILENT,NM_032656.3:p.Thr675Thr/c.2025G>A,acG/acA,LOW,COSM3753031(2),0.365216,0.6448,rs4076777,0(D),,,-0.9689(T),,chr12,125448960,125448960,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr675Thr/c.2025G>A|1157|DHX37|protein_coding|CODING|NM_032656.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3436,0.3386,0.33,0.29,0.21,0.33,,,0.000(P),,0.0000(T),.,1.782963,5.17,-3.66,-0.521000,-1.499000,-2.742000,0.837000,0.809000,0.000000,2.5483
synonymous_variant,TMEM132B,SILENT,NM_052907.3:p.Ser50Ser/c.150C>A,tcC/tcA,LOW,COSM3753032(2),0.274361,0.2728,rs1491893,,,,,,chr12,125834095,125834095,C,A,hom,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser50Ser/c.150C>A|1078|TMEM132B|protein_coding|CODING|NM_052907.3|2|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.32,0.3458,0.3012,0.27,0.20,0.29,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132B,SILENT,NM_052907.3:p.Ser150Ser/c.450T>C,agT/agC,LOW,,0.661142,0.8105,rs3803155,,,,,,chr12,125834395,125834395,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser150Ser/c.450T>C|1078|TMEM132B|protein_coding|CODING|NM_052907.3|2|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.7873,0.8055,0.7435,0.65,0.44,0.75,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132B,SILENT,NM_052907.3:p.Thr433Thr/c.1299T>C,acT/acC,LOW,,0.921725,0.9563,rs6489006,,,,,,chr12,126068417,126068417,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr433Thr/c.1299T>C|1078|TMEM132B|protein_coding|CODING|NM_052907.3|5|1),,,,,0.8231,0.9611,0.9324,0.94,0.93,0.94,,,,,,,,,,,,,,,,
missense_variant,TMEM132C,MISSENSE,NM_001136103.2:p.His161Arg/c.482A>G,cAc/cGc,MODERATE,COSM3753034(1),0.377396,0.3998,rs11059681,0.46(T),0.001(B),0.455(N),-0.9193(T),,chr12,128899673,128899673,A,G,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His161Arg/c.482A>G|1108|TMEM132C|protein_coding|CODING|NM_001136103.2|2|1),HepG2:H3K27me3,,,,0.2301,0.3487,0.4672,0.45,0.43,0.46,,,1.000(P),2.86(T),0.0000(T),0.015,-0.114890,4.96,-9.14,-1.096000,-2.580000,0.354000,0.118000,0.000000,0.000000,8.8075
synonymous_variant,TMEM132C,SILENT,NM_001136103.2:p.Thr657Thr/c.1971A>G,acA/acG,LOW,,0.796725,0.8472,rs386619441,,,,,,chr12,129181810,129181810,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr657Thr/c.1971A>G|1108|TMEM132C|protein_coding|CODING|NM_001136103.2|8|1),,,,,0.8753,0.8833,0.9662,0.85,0.59,0.97,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132C,SILENT,NM_001136103.2:p.Val665Val/c.1995A>G,gtA/gtG,LOW,,0.984824,1,rs902060,,,,,,chr12,129181834,129181834,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val665Val/c.1995A>G|1108|TMEM132C|protein_coding|CODING|NM_001136103.2|8|1),,,,,1,1,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,TMEM132C,MISSENSE,NM_001136103.2:p.Gly810Arg/c.2428G>A,Ggg/Agg,MODERATE,COSM1360009(3),0.488219,0.6042,rs12424159,0.53(T),0.006(B),0.895(L),-0.9426(T),,chr12,129189941,129189941,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly810Arg/c.2428G>A|1108|TMEM132C|protein_coding|CODING|NM_001136103.2|9|1),,,,,0.593,0.6527,0.5567,0.47,0.23,0.57,,0.222438(N),1.000(P),"2.6,2.6,2.6(T,T,T)",0.0000(T),0.022,-1.192588,4.61,-0.187,-1.213000,-0.288000,0.590000,0.044000,0.000000,0.003000,6.4763
synonymous_variant,TMEM132C,SILENT,NM_001136103.2:p.Gln836Gln/c.2508A>G,caA/caG,LOW,COSM4146817(1),0.978834,1,rs11059841,,,,,,chr12,129190021,129190021,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln836Gln/c.2508A>G|1108|TMEM132C|protein_coding|CODING|NM_001136103.2|9|1),,,,,1,0.9957,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TMEM132C,SILENT,NM_001136103.2:p.Ala987Ala/c.2961G>A,gcG/gcA,LOW,COSM430705(4),0.485823,0.5744,rs3812792,,,,,,chr12,129190474,129190474,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala987Ala/c.2961G>A|1108|TMEM132C|protein_coding|CODING|NM_001136103.2|9|1),,,,,0.5961,0.6542,0.5626,0.47,0.24,0.57,,,,,,,,,,,,,,,,
synonymous_variant,SLC15A4,SILENT,NM_145648.3:p.Ser415Ser/c.1245G>A,tcG/tcA,LOW,,0.467053,0.5893,rs11059924,,,,,,chr12,129293346,129293346,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser415Ser/c.1245G>A|577|SLC15A4|protein_coding|CODING|NM_145648.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4775,0.3588,0.4414,0.45,0.42,0.47,,,,,,,,,,,,,,,,
missense_variant,GLT1D1,MISSENSE,NM_144669.1:p.His202Tyr/c.604C>T,Cat/Tat,MODERATE,,,,,0.02(D),"0.996,0.997(D,D)",2.455(M),0.4565(D),,chr12,129442153,129442153,C,T,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His202Tyr/c.604C>T|266|GLT1D1|protein_coding|CODING|NM_144669.1|7|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),"-1.36,-1.36,-1.36,-1.36(T,T,T,T)",0.6895(D),0.888,2.872254,5.6,5.6,0.655000,2.616000,6.392000,0.015000,0.063000,1.000000,18.3782
synonymous_variant,TMEM132D,SILENT,NM_133448.2:p.Thr721Thr/c.2163G>A,acG/acA,LOW,,0.644169,0.5645,rs10773594,,,,,,chr12,129559557,129559557,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr721Thr/c.2163G>A|1099|TMEM132D|protein_coding|CODING|NM_133448.2|9|1),,,,,0.683,0.6888,0.6769,0.68,0.65,0.69,,,,,,,,,,,,,,,,
synonymous_variant,RIMBP2,SILENT,NM_015347.4:p.Asn1003Asn/c.3009T>C,aaT/aaC,LOW,,0.222644,0.1538,rs756186,,,,,,chr12,130884347,130884347,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1003Asn/c.3009T>C|1052|RIMBP2|protein_coding|CODING|NM_015347.4|18|1),,,,,0.1524,0.1916,0.328,0.33,0.28,0.36,,,,,,,,,,,,,,,,
synonymous_variant,RIMBP2,SILENT,NM_015347.4:p.Arg776Arg/c.2328G>A,agG/agA,LOW,,0.288738,0.4077,rs2277356,,,,,,chr12,130912757,130912757,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg776Arg/c.2328G>A|1052|RIMBP2|protein_coding|CODING|NM_015347.4|12|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3548,0.3429,0.165,0.16,0.21,0.13,,,,,,,,,,,,,,,,
synonymous_variant,STX2,SILENT,NM_001980.3:p.Ser287Ser/c.861C>A,tcC/tcA,LOW,,0.976637,1,rs4759786,,,,,,chr12,131276448,131276448,G,T,hom,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser287Ser/c.861C>A|287|STX2|protein_coding|CODING|NM_001980.3|10|1),3_prime_UTR_variant(MODIFIER||4137|c.*120C>A|288|STX2|protein_coding|CODING|NM_194356.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,0.999,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,STX2,MISSENSE,NM_194356.2:p.Ser42Thr/c.125G>C,aGt/aCt,MODERATE,,0.604034,0.872,rs17564,0.54(T),"0.076,0.034,0.232(B,B,B)",0.75(N),-1.0350(T),,chr12,131306314,131306314,C,G,het,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser42Thr/c.125G>C|287|STX2|protein_coding|CODING|NM_001980.3|3|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser42Thr/c.125G>C|288|STX2|protein_coding|CODING|NM_194356.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7679,0.6499,0.6571,0.53,0.28,0.66,,0.164408(N),1.000(P),"2.28,2.28(T,T)",0.0000(T),0.243,-0.290165,4.48,-0.508,-1.786000,0.006000,-0.070000,0.004000,0.000000,0.000000,5.4155
synonymous_variant,GPR133,SILENT,NM_198827.3:p.Tyr148Tyr/c.444T>C,taT/taC,LOW,,0.930112,0.995,rs4759534,,,,,,chr12,131466562,131466562,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr148Tyr/c.444T>C|874|GPR133|protein_coding|CODING|NM_198827.3|5|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.9939,0.9856,0.994,0.92,0.78,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GPR133,SILENT,NM_198827.3:p.Thr758Thr/c.2274A>G,acA/acG,LOW,COSM1360129(1),0.669928,0.4286,rs868158,,,,-0.9909(T),,chr12,131620588,131620588,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr758Thr/c.2274A>G|874|GPR133|protein_coding|CODING|NM_198827.3|22|1),K562:H3K36me3,,,,0.6585,0.6484,0.8917,0.85,0.75,0.90,,,0.005(P),,0.0000(T),.,-1.186212,4.6,-9.2,-2.865000,-6.446000,-3.602000,0.151000,0.000000,0.000000,7.2325
synonymous_variant,GPR133,SILENT,NM_198827.3:p.Ser830Ser/c.2490T>C,tcT/tcC,LOW,COSM4146827(1),0.663938,0.9306,rs7302341,,,,-1.0197(T),,chr12,131622735,131622735,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser830Ser/c.2490T>C|874|GPR133|protein_coding|CODING|NM_198827.3|24|1),,,,,0.7791,0.7378,0.6471,0.56,0.42,0.63,,,0.002(P),,0.0000(T),.,0.199830,4.46,-1.77,-1.050000,-0.786000,-3.362000,0.015000,0.008000,0.000000,10.5216
synonymous_variant,SFSWAP,SILENT,NM_001261411.1:p.Asp388Asp/c.1164C>T,gaC/gaT,LOW,COSM4146832(1),0.102835,0.001,rs1051219,,,,-1.0044(T),,chr12,132237750,132237750,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp388Asp/c.1164C>T|1003|SFSWAP|protein_coding|CODING|NM_001261411.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp388Asp/c.1164C>T|951|SFSWAP|protein_coding|CODING|NM_004592.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0971,0.2147,0.2565,0.20,0.05,0.28,,,0.000(P),,0.0000(T),.,-0.171526,5.28,-4.44,-0.369000,-0.865000,-0.993000,0.302000,0.112000,0.016000,8.7176
missense_variant,SFSWAP,MISSENSE,NM_001261411.1:p.Leu421Pro/c.1262T>C,cTa/cCa,MODERATE,,0.928914,0.994,rs1982528,0.4(T),"0.0,0.0,0.0(B,B,B)",-1.995(N),-0.9622(T),,chr12,132237848,132237848,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu421Pro/c.1262T>C|1003|SFSWAP|protein_coding|CODING|NM_001261411.1|8|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu421Pro/c.1262T>C|951|SFSWAP|protein_coding|CODING|NM_004592.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9775,0.9813,0.9821,0.93,0.83,0.98,,0.000033(N),0.007(P),"2.88,1.87,2.89(T,T,T)",0.0000(T),0.241,0.216520,5.41,5.41,-0.215000,1.430000,2.763000,0.003000,0.041000,0.973000,13.0224
synonymous_variant,SFSWAP,SILENT,NM_001261411.1:p.Leu667Leu/c.2001G>C,ctG/ctC,LOW,,0.101438,0,rs1051233,,,,-0.9971(T),,chr12,132250712,132250712,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu667Leu/c.2001G>C|1003|SFSWAP|protein_coding|CODING|NM_001261411.1|13|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu667Leu/c.2001G>C|951|SFSWAP|protein_coding|CODING|NM_004592.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1012,0.2291,0.2366,0.18,0.05,0.26,,,0.000(P),,0.0000(T),.,1.147491,5.73,-9.28,0.591000,-1.785000,-0.165000,0.987000,0.539000,0.879000,1.6034
synonymous_variant,SFSWAP,SILENT,NM_001261411.1:p.Ser890Ser/c.2670T>C,agT/agC,LOW,COSM3753053(3),0.99381,1,rs7136643,,,,,,chr12,132271113,132271113,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser890Ser/c.2670T>C|1003|SFSWAP|protein_coding|CODING|NM_001261411.1|16|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser838Ser/c.2514T>C|951|SFSWAP|protein_coding|CODING|NM_004592.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,0.999,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,MMP17,MISSENSE,NM_016155.4:p.Arg279His/c.836G>A,cGc/cAc,MODERATE,COSM3753056(1),0.252396,0.1657,rs35466884,0.08(T),0.004(B),0.195(N),-0.9106(T),,chr12,132326298,132326298,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg279His/c.836G>A|603|MMP17|protein_coding|CODING|NM_016155.4|5|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.3865,0.1599,0.1869,0.22,0.32,0.17,,0.891295(N),0.000(P),"2.3,2.3,2.51(T,T,T)",0.0000(T),0.196,1.121060,4.15,-1.36,-0.233000,-0.146000,2.944000,0.024000,0.989000,1.000000,5.4444
synonymous_variant,ULK1,SILENT,NM_003565.2:p.Asp355Asp/c.1065C>T,gaC/gaT,LOW,COSM430751(2),0.551717,0.3343,rs11616018,,,,,,chr12,132396603,132396603,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp355Asp/c.1065C>T|1050|ULK1|protein_coding|CODING|NM_003565.2|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7025,0.7363,0.829,0.67,0.37,0.82,,,,,,,,,,,,,,,,
missense_variant,ULK1,MISSENSE,NM_003565.2:p.Thr452Ser/c.1355C>G,aCc/aGc,MODERATE,,0.00519169,0,rs74749868,0.82(T),0.001(B),1.39(L),-1.0430(T),,chr12,132399004,132399004,C,G,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr452Ser/c.1355C>G|1050|ULK1|protein_coding|CODING|NM_003565.2|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0072,0.0199,0.01,0.00,0.01,,0.374489(N),1.000(N),-0.3(T),0.0573(T),0.036,-0.989776,5.25,2.06,0.561000,1.178000,0.348000,0.175000,0.005000,0.000000,2.8582
missense_variant,ULK1,MISSENSE,NM_003565.2:p.Pro714Leu/c.2141C>T,cCg/cTg,MODERATE,COSM330256(4),0.203674,0.0377,rs11546871,0.67(T),0.002(B),0(N),-0.9484(T),,chr12,132401566,132401566,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro714Leu/c.2141C>T|1050|ULK1|protein_coding|CODING|NM_003565.2|21|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.362,0.2651,0.326,0.24,0.10,0.31,,0.574590(N),0.808(P),"1.61,1.61(T,T)",0.0000(T),0.113,0.532418,5.06,4.16,0.556000,1.226000,2.192000,0.033000,0.345000,0.590000,9.0411
synonymous_variant,ULK1,SILENT,NM_003565.2:p.Pro749Pro/c.2247T>C,ccT/ccC,LOW,COSM3724080(1),0.603435,0.4236,rs4964918,,,,,,chr12,132402020,132402020,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro749Pro/c.2247T>C|1050|ULK1|protein_coding|CODING|NM_003565.2|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.6037,0.6272,0.65,0.76,0.59,,,,,,,,,,,,,,,,
missense_variant,ULK1,MISSENSE,NM_003565.2:p.Thr816Ala/c.2446A>G,Act/Gct,MODERATE,COSM4146839(1),0.992212,1,rs11609348,1(T),0.001(B),0.42(N),-0.9435(T),,chr12,132403161,132403161,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr816Ala/c.2446A>G|1050|ULK1|protein_coding|CODING|NM_003565.2|23|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,1,1,1,0.99,0.97,1.00,,0.002455(N),0.037(P),"0.89,0.89,0.89(T,T,T)",0.0000(T),0.115,-0.934107,5.21,-5.91,-0.215000,-1.497000,-0.278000,0.124000,0.000000,0.000000,7.9495
synonymous_variant,EP400,SILENT,NM_015409.4:p.Ser1249Ser/c.3747C>T,agC/agT,LOW,,0.00159744,0,rs117748869,,,,,,chr12,132498170,132498170,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser1249Ser/c.3747C>T|3123|EP400|protein_coding|CODING|NM_015409.4|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.005,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,DDX51,MISSENSE,NM_175066.3:p.Gln295Arg/c.884A>G,cAg/cGg,MODERATE,COSM4146861(1),0.542332,0.753,rs1133690,0.06(T),0.788(P),0.81(L),-1.1717(T),,chr12,132626668,132626668,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln295Arg/c.884A>G|666|DDX51|protein_coding|CODING|NM_175066.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5358,0.6772,0.6958,0.56,0.31,0.69,,0.000000(D),0.000(P),2.44(T),0.0000(T),0.233,4.453070,4.71,4.71,0.402000,1.756000,5.419000,0.965000,1.000000,1.000000,12.1532
missense_variant,GALNT9,MISSENSE,NM_001122636.1:p.Arg533His/c.1598G>A,cGc/cAc,MODERATE,COSM1207868(1),,,,0.11(T),"0.952,0.494,0.654(D,P,P)",1.725(L),-0.9879(T),,chr12,132682404,132682404,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg533His/c.1598G>A|603|GALNT9|protein_coding|CODING|NM_001122636.1|10|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg167His/c.500G>A|237|GALNT9|protein_coding|CODING|NM_021808.3|6|1)","GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000015(N),1.000(D),"1.67,1.67,1.67,1.67(T,T,T,T)",0.1384(T),0.387,3.279476,4.29,3.39,0.555000,0.784000,5.564000,0.375000,0.444000,1.000000,11.7159
synonymous_variant,GALNT9,SILENT,NM_001122636.1:p.Tyr392Tyr/c.1176T>C,taT/taC,LOW,COSM4146865(1),0.569289,0.4911,rs7486927,,,,-0.9636(T),,chr12,132688137,132688137,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr392Tyr/c.1176T>C|603|GALNT9|protein_coding|CODING|NM_001122636.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr26Tyr/c.78T>C|237|GALNT9|protein_coding|CODING|NM_021808.3|3|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5491,0.5231,0.5716,0.62,0.65,0.61,,,0.000(P),,0.0000(T),.,0.240554,3.89,-2.38,-3.074000,-0.687000,-0.220000,0.519000,0.981000,0.277000,10.2099
synonymous_variant,GALNT9,SILENT,NM_001122636.1:p.Gly93Gly/c.279C>T,ggC/ggT,LOW,,0.342452,0.4415,rs28503969,,,,,,chr12,132862976,132862976,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly93Gly/c.279C>T|603|GALNT9|protein_coding|CODING|NM_001122636.1|2|1),"HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3599,0.2277,0.3072,,,,,,,,,,,,,,,,,,,
missense_variant,FBRSL1,MISSENSE,NM_001142641.1:p.Thr63Ala/c.187A>G,Acc/Gcc,MODERATE,COSM4146896(5),0.794928,0.5516,rs386481320,1(T),0.0(B),-1.1(N),-0.9832(T),,chr12,133067343,133067343,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr63Ala/c.187A>G|1045|FBRSL1|protein_coding|CODING|NM_001142641.1|1|1),"K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,K562:Nrsf,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9673,0.8213,0.9642,,,,,,0.952(P),1.6(T),0.0000(T),0.064,-1.186384,2.57,1.49,-0.677000,0.267000,0.128000,0.071000,0.647000,0.008000,4.1252
synonymous_variant,FBRSL1,SILENT,NM_001142641.1:p.Leu874Leu/c.2620C>T,Ctg/Ttg,LOW,,0.173123,0.0873,rs56171012,,,,,,chr12,133159846,133159846,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu874Leu/c.2620C>T|1045|FBRSL1|protein_coding|CODING|NM_001142641.1|17|1),downstream_gene_variant(MODIFIER||1199|||MIR6763||NON_CODING|NR_106821.1||1)","HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3",,,,0.1851,0.1772,0.2724,,,,,,,,,,,,,,,,,,,
synonymous_variant,FBRSL1,SILENT,NM_001142641.1:p.Thr1004Thr/c.3012G>C,acG/acC,LOW,COSM4146898(3),0.703075,0.7192,rs7966712,,,,,,chr12,133160238,133160238,G,C,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr1004Thr/c.3012G>C|1045|FBRSL1|protein_coding|CODING|NM_001142641.1|17|1),downstream_gene_variant(MODIFIER||1591|||MIR6763||NON_CODING|NR_106821.1||1)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6063,0.6988,0.5507,,,,,,,,,,,,,,,,,,,
missense_variant,LRCOL1,MISSENSE,NM_001195520.1:p.Arg42Gly/c.124A>G,Agg/Ggg,MODERATE,,0.721645,0.7808,rs11146963,,,,,,chr12,133181399,133181399,T,C,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg42Gly/c.124A>G|159|LRCOL1|protein_coding|CODING|NM_001195520.1|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.59,0.7594,0.5497,,,,,,,,,,,,,,,,,,,
missense_variant,LRCOL1,MISSENSE,NM_001195520.1:p.Thr7Met/c.20C>T,aCg/aTg,MODERATE,,0.510184,0.619,rs12819734,,,,,,chr12,133182818,133182818,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr7Met/c.20C>T|159|LRCOL1|protein_coding|CODING|NM_001195520.1|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5368,0.5231,0.4056,,,,,,,,,,,,,,,,,,,
synonymous_variant,P2RX2,SILENT,NM_170683.3:p.Thr156Thr/c.468T>C,acT/acC,LOW,COSM430767(4),0.712859,0.7808,rs7964634,,,,-0.9858(T),,chr12,133196596,133196596,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr156Thr/c.468T>C|349|P2RX2|protein_coding|CODING|NM_001282165.1|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr84Thr/c.252T>C|399|P2RX2|protein_coding|CODING|NM_012226.4|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr132Thr/c.396T>C|447|P2RX2|protein_coding|CODING|NM_016318.3|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr156Thr/c.468T>C|471|P2RX2|protein_coding|CODING|NM_170682.3|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr156Thr/c.468T>C|497|P2RX2|protein_coding|CODING|NM_170683.3|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr64Thr/c.192T>C|379|P2RX2|protein_coding|CODING|NM_174872.2|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr156Thr/c.468T>C|404|P2RX2|protein_coding|CODING|NM_174873.2|5|1),intron_variant(MODIFIER|||c.386-25T>C|370|P2RX2|protein_coding|CODING|NM_001282164.1|3|1)","K562:PolII,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.592,0.7522,0.5616,0.65,0.80,0.58,,,0.000(P),,0.0000(T),.,-0.468560,4.99,-6.26,-1.163000,-1.059000,-8.920000,0.080000,0.232000,0.000000,1.2958
synonymous_variant,POLE,SILENT,NM_006231.3:p.Ser2084Ser/c.6252A>G,tcA/tcG,LOW,,0.699081,0.7788,rs5745022,,,,,,chr12,133208979,133208979,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser2084Ser/c.6252A>G|2286|POLE|protein_coding|CODING|NM_006231.3|45|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.7464,0.5656,0.64,0.76,0.58,,,,,,,,,,,,,,,,
synonymous_variant,POLE,SILENT,NM_006231.3:p.Leu1903Leu/c.5707C>T,Ctg/Ttg,LOW,,0.133986,0.1141,rs386599714,,,,,,chr12,133212582,133212582,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1903Leu/c.5707C>T|2286|POLE|protein_coding|CODING|NM_006231.3|42|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0941,0.2205,0.1382,0.16,0.15,0.16,,,,,,,,,,,,,,,,
synonymous_variant,POLE,SILENT,NM_006231.3:p.Ala1510Ala/c.4530A>G,gcA/gcG,LOW,COSM4146902(1),0.605232,0.6736,rs386599709,,,,,,chr12,133219831,133219831,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1510Ala/c.4530A>G|2286|POLE|protein_coding|CODING|NM_006231.3|35|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.5317,0.4304,0.52,0.70,0.43,,,,,,,,,,,,,,,,
synonymous_variant,POLE,SILENT,NM_006231.3:p.Thr1052Thr/c.3156G>A,acG/acA,LOW,,0.605431,0.6736,rs5744857,,,,,,chr12,133236000,133236000,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1052Thr/c.3156G>A|2286|POLE|protein_coding|CODING|NM_006231.3|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5573,0.5317,0.4314,0.52,0.70,0.43,,,,,,,,,,,,,,,,
missense_variant,PGAM5,MISSENSE,NM_001170543.1:p.Lys191Arg/c.572A>G,aAg/aGg,MODERATE,COSM1322640(1),0.0325479,0,rs117147264,0.22(T),"0.024,0.019(B,B)",0.04(N),-1.0638(T),,chr12,133294371,133294371,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys191Arg/c.572A>G|289|PGAM5|protein_coding|CODING|NM_001170543.1|4|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys191Arg/c.572A>G|288|PGAM5|protein_coding|CODING|NM_001170544.1|4|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys191Arg/c.572A>G|255|PGAM5|protein_coding|CODING|NM_138575.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.1671,0.0358,0.03,0.01,0.04,,0.000000(D),0.000(P),"-0.6,-0.6(T,T)",0.0024(T),0.312,1.734893,5.5,5.5,0.533000,2.084000,8.497000,0.183000,1.000000,1.000000,15.6131
missense_variant,ANKLE2,MISSENSE,NM_015114.2:p.Gln148Glu/c.442C>G,Cag/Gag,MODERATE,,0.102636,0,rs7968520,0.63(T),"0.069,0.13(B,B)",1.25(L),-1.0380(T),,chr12,133331459,133331459,G,C,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln148Glu/c.442C>G|938|ANKLE2|protein_coding|CODING|NM_015114.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.1859,0.0487,0.11,0.22,0.06,,0.693133(N),0.051(P),"2.02,2.0,1.58(T,T,T)",0.0000(T),0.137,1.033945,5.38,4.48,0.650000,2.547000,0.675000,0.035000,0.015000,0.000000,12.8359
missense_variant,GOLGA3,MISSENSE,NM_005895.3:p.Pro264Leu/c.791C>T,cCg/cTg,MODERATE,,0.141973,0.1736,rs3741486,0.02(D),"0.002,0.002,0.001(B,B,B)",1.155(L),-0.9769(T),,chr12,133384864,133384864,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro264Leu/c.791C>T|1134|GOLGA3|protein_coding|CODING|NM_001172557.1|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro264Leu/c.791C>T|1498|GOLGA3|protein_coding|CODING|NM_005895.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.1571,0.2813,0.21,0.05,0.30,,0.718094(N),1.000(P),"1.63,1.63,1.63,1.63,1.63(T,T,T,T,T)",0.0000(T),0.046,-0.688716,5.23,0.791,0.585000,0.310000,0.439000,0.034000,0.002000,0.000000,9.7493
synonymous_variant,GOLGA3,SILENT,NM_005895.3:p.Thr138Thr/c.414A>G,acA/acG,LOW,,0.072484,0.0446,rs7134809,,,,,,chr12,133389998,133389998,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr138Thr/c.414A>G|1134|GOLGA3|protein_coding|CODING|NM_001172557.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr138Thr/c.414A>G|1498|GOLGA3|protein_coding|CODING|NM_005895.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.0735,0.171,0.12,0.03,0.17,,,,,,,,,,,,,,,,
synonymous_variant,CHFR,SILENT,NM_001161344.1:p.Leu569Leu/c.1705T>C,Ttg/Ctg,LOW,,0.142372,0.1736,rs2306537,,,,,,chr12,133423695,133423695,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu569Leu/c.1705T>C|664|CHFR|protein_coding|CODING|NM_001161344.1|15|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu568Leu/c.1702T>C|663|CHFR|protein_coding|CODING|NM_001161345.1|15|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu557Leu/c.1669T>C|652|CHFR|protein_coding|CODING|NM_001161346.1|15|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu477Leu/c.1429T>C|572|CHFR|protein_coding|CODING|NM_001161347.1|13|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu528Leu/c.1582T>C|623|CHFR|protein_coding|CODING|NM_018223.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.136,0.1571,0.2803,0.21,0.05,0.30,,,,,,,,,,,,,,,,
synonymous_variant,CHFR,SILENT,NM_001161344.1:p.Arg382Arg/c.1146A>G,agA/agG,LOW,,0.970248,0.999,rs2062163,,,,,,chr12,133433173,133433173,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg382Arg/c.1146A>G|664|CHFR|protein_coding|CODING|NM_001161344.1|10|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg382Arg/c.1146A>G|663|CHFR|protein_coding|CODING|NM_001161345.1|10|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg370Arg/c.1110A>G|652|CHFR|protein_coding|CODING|NM_001161346.1|10|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg290Arg/c.870A>G|572|CHFR|protein_coding|CODING|NM_001161347.1|8|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg341Arg/c.1023A>G|623|CHFR|protein_coding|CODING|NM_018223.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,0.999,0.97,0.90,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CHFR,SILENT,NM_001161344.1:p.Pro295Pro/c.885A>C,ccA/ccC,LOW,,0.142173,0.1726,rs35011845,,,,,,chr12,133435716,133435716,T,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro295Pro/c.885A>C|664|CHFR|protein_coding|CODING|NM_001161344.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro295Pro/c.885A>C|663|CHFR|protein_coding|CODING|NM_001161345.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro283Pro/c.849A>C|652|CHFR|protein_coding|CODING|NM_001161346.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro203Pro/c.609A>C|572|CHFR|protein_coding|CODING|NM_001161347.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro254Pro/c.762A>C|623|CHFR|protein_coding|CODING|NM_018223.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.136,0.1585,0.2793,0.21,0.05,0.30,,,,,,,,,,,,,,,,
synonymous_variant,ZNF140,SILENT,NM_003440.3:p.Gln264Gln/c.792A>G,caA/caG,LOW,,0.547125,0.2351,rs386607503,,,,,,chr12,133682655,133682655,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln161Gln/c.483A>G|354|ZNF140|protein_coding|CODING|NM_001300776.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln161Gln/c.483A>G|354|ZNF140|protein_coding|CODING|NM_001300778.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln264Gln/c.792A>G|457|ZNF140|protein_coding|CODING|NM_003440.3|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln136Gln/c.408A>G|329|ZNF140|protein_coding|CODING|NM_001300777.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5297,0.438,0.5795,0.66,0.79,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ZNF10,SILENT,NM_015394.4:p.Pro264Pro/c.792C>T,ccC/ccT,LOW,,0.293131,0.1111,rs3763151,,,,,,chr12,133732624,133732624,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro264Pro/c.792C>T|573|ZNF10|protein_coding|CODING|NM_015394.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2566,0.2608,0.34,0.36,0.41,0.33,,,,,,,,,,,,,,,,
missense_variant,ZNF268,MISSENSE,NM_001165881.2:p.Thr175Met/c.524C>T,aCg/aTg,MODERATE,,0.296925,0.1111,rs7975069,,,0.345(N),-0.9380(T),,chr12,133778796,133778796,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr175Met/c.524C>T|947|ZNF268|protein_coding|CODING|NM_001165881.2|6|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr92Met/c.275C>T|864|ZNF268|protein_coding|CODING|NM_001165882.2|6|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg101Trp/c.301C>T|135|ZNF268|protein_coding|CODING|NM_001165883.1|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg34Trp/c.100C>T|68|ZNF268|protein_coding|CODING|NM_001165884.2|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg133Trp/c.397C>T|167|ZNF268|protein_coding|CODING|NM_001165885.1|5|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg66Trp/c.196C>T|100|ZNF268|protein_coding|CODING|NM_001165886.1|4|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr175Met/c.524C>T|947|ZNF268|protein_coding|CODING|NM_003415.2|6|1),3_prime_UTR_variant(MODIFIER||48|c.*48C>T|126|ZNF268|protein_coding|CODING|NM_001165887.1|6|1),3_prime_UTR_variant(MODIFIER||48|c.*48C>T|193|ZNF268|protein_coding|CODING|NM_152943.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2607,0.2579,0.3469,0.35,0.41,0.33,,,1.000(P),,0.0000(T),0.036,-1.408633,3.69,-0.175,-2.099000,-0.449000,-1.204000,0.010000,0.000000,0.000000,5.1074
missense_variant,ANHX,MISSENSE,NM_001191054.1:p.Ala346Val/c.1037C>T,gCc/gTc,MODERATE,,0.483427,0.7609,rs144454089,,0.021(B),0(N),-1.0287(T),,chr12,133795885,133795885,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala346Val/c.1037C>T|379|ANHX|protein_coding|CODING|NM_001191054.1|8|1),,,,,0.4867,0.5706,0.4165,,,,,,1.000(P),"1.28,1.28(T,T)",0.0000(T),0.047,1.142269,3.83,0.727,0.655000,0.144000,0.643000,0.754000,0.044000,0.977000,4.6567
missense_variant,TPTE2,MISSENSE,NM_199254.2:p.Ile444Val/c.1330A>G,Ata/Gta,MODERATE,,0.930112,1,rs2497218,,"0.002,0.001,0.002(B,B,B)",-0.67(N),-0.9890(T),,chr13,20000630,20000630,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile333Val/c.997A>G|411|TPTE2|protein_coding|CODING|NM_001141968.1|17|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile115Val/c.343A>G|193|TPTE2|protein_coding|CODING|NM_001271850.1|5|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile367Val/c.1099A>G|445|TPTE2|protein_coding|CODING|NM_130785.3|16|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile444Val/c.1330A>G|522|TPTE2|protein_coding|CODING|NM_199254.2|19|1),intron_variant(MODIFIER|||n.953-657A>G||TPTE2||CODING|NR_073486.1|13|1),non_coding_exon_variant(MODIFIER|||n.1653A>G||TPTE2||CODING|NR_073485.1|21|1),non_coding_exon_variant(MODIFIER|||n.1078A>G||TPTE2||CODING|NR_073487.1|13|1)",,,,,1,0.9697,0.996,0.93,0.80,1.00,,0.044733(N),1.000(P),"-1.91,-1.91,-1.91,-1.91,-1.91,-1.91,-1.91,-1.91(D,D,D,D,D,D,D,D)",0.0000(T),0.051,-2.091458,2.06,2.06,-1.033000,0.436000,0.566000,0.003000,0.034000,0.037000,4.852
missense_variant,TPTE2,MISSENSE,NM_199254.2:p.Lys39Glu/c.115A>G,Aaa/Gaa,MODERATE,COSM226286(3),,,rs78472618,,"0.0,0.0,0.0(B,B,B)",0.665(N),-0.4702(T),,chr13,20066994,20066994,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys39Glu/c.115A>G|411|TPTE2|protein_coding|CODING|NM_001141968.1|5|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys39Glu/c.115A>G|445|TPTE2|protein_coding|CODING|NM_130785.3|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys39Glu/c.115A>G|522|TPTE2|protein_coding|CODING|NM_199254.2|4|1),non_coding_exon_variant(MODIFIER|||n.438A>G||TPTE2||CODING|NR_073485.1|6|1),non_coding_exon_variant(MODIFIER|||n.158A>G||TPTE2||CODING|NR_073486.1|3|1),non_coding_exon_variant(MODIFIER|||n.326A>G||TPTE2||CODING|NR_073487.1|4|1)",,,,,,,,,,,,0.018903(N),1.000(N),"-3.64,-3.51,-3.47,-3.49,-3.49,-3.47,-3.64,-3.51(D,D,D,D,D,D,D,D)",0.5578(D),0.153,-0.712684,1.03,-1.53,-0.464000,-0.630000,-1.444000,0.001000,0.000000,0.000000,4.2942
missense_variant,TPTE2,MISSENSE,NM_199254.2:p.Leu33Arg/c.98T>G,cTg/cGg,MODERATE,COSM1717710(4),,,rs76437836,,"0.0,0.001,0.0(B,B,B)",0.41(N),-0.5368(T),,chr13,20067011,20067011,A,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu33Arg/c.98T>G|411|TPTE2|protein_coding|CODING|NM_001141968.1|5|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu33Arg/c.98T>G|445|TPTE2|protein_coding|CODING|NM_130785.3|4|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu33Arg/c.98T>G|522|TPTE2|protein_coding|CODING|NM_199254.2|4|1),non_coding_exon_variant(MODIFIER|||n.421T>G||TPTE2||CODING|NR_073485.1|6|1),non_coding_exon_variant(MODIFIER|||n.141T>G||TPTE2||CODING|NR_073486.1|3|1),non_coding_exon_variant(MODIFIER|||n.309T>G||TPTE2||CODING|NR_073487.1|4|1)",,,,,,,,,,,,0.728341(N),1.000(N),"-3.53,-3.51,-3.43,-3.63,-3.63,-3.43,-3.53,-3.51(D,D,D,D,D,D,D,D)",0.5514(D),0.107,-1.334344,0.785,-1.57,-2.170000,-1.334000,-2.053000,0.000000,0.000000,0.000000,1.8764
missense_variant,PSPC1,MISSENSE,NM_001042414.2:p.Met492Val/c.1474A>G,Atg/Gtg,MODERATE,COSM1606896(2),,,rs75085951,0.43(T),0.007(B),0.345(N),-0.9638(T),,chr13,20277413,20277413,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met492Val/c.1474A>G|523|PSPC1|protein_coding|CODING|NM_001042414.2|10|1),intron_variant(MODIFIER|||n.1421-25450A>G||PSPC1||CODING|NR_003272.2|6|1),intron_variant(MODIFIER|||n.1421-25450A>G||PSPC1||CODING|NR_044998.1|6|1)",HSMM:H3K36me3,,,,,,,,,,,0.010077(N),0.812(N),2.52(T),0.0000(T),0.363,-0.917139,5.58,4.4,0.397000,0.946000,4.450000,0.967000,0.996000,1.000000,12.4969
missense_variant,ZMYM5,MISSENSE,NM_001142684.1:p.His653Arg/c.1958A>G,cAc/cGc,MODERATE,COSM4147622(1),0.798522,0.9554,rs9508907,0.61(T),0.026(B),0.55(N),-0.9981(T),,chr13,20398669,20398669,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His653Arg/c.1958A>G|669|ZMYM5|protein_coding|CODING|NM_001142684.1|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8947,0.8386,0.8628,0.79,0.60,0.87,,0.078967(N),1.000(P),"2.32,2.32(T,T)",0.0000(T),0.041,-0.945577,2.73,1.38,-1.445000,0.039000,-0.032000,0.041000,0.000000,0.001000,6.6921
missense_variant,ZMYM5,MISSENSE,NM_001142684.1:p.Val629Ile/c.1885G>A,Gtc/Atc,MODERATE,COSM4147623(1),0.797923,0.9554,rs9508908,0.78(T),0.0(B),-0.805(N),-1.0273(T),,chr13,20398742,20398742,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val629Ile/c.1885G>A|669|ZMYM5|protein_coding|CODING|NM_001142684.1|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8947,0.8372,0.8618,0.79,0.61,0.87,,0.584618(N),0.000(P),"2.34,2.34(T,T)",0.0000(T),0.037,-1.029472,3.03,0.39,-0.381000,-0.197000,0.177000,0.955000,0.961000,0.996000,3.1569
synonymous_variant,GJA3,SILENT,NM_021954.3:p.Ala339Ala/c.1017G>A,gcG/gcA,LOW,COSM1365738(2),0.254393,0.3363,rs11617415,,,,,,chr13,20716411,20716411,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala339Ala/c.1017G>A|435|GJA3|protein_coding|CODING|NM_021954.3|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3446,0.2032,0.2346,0.18,0.15,0.20,,,,,,,,,,,,,,,,
missense_variant,GJA3,MISSENSE,NM_021954.3:p.Leu299Met/c.895C>A,Ctg/Atg,MODERATE,COSM4147624(3),0.964856,1,rs968566,0.38(T),0.002(B),-0.895(N),-0.9652(T),,chr13,20716533,20716533,G,T,hom,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu299Met/c.895C>A|435|GJA3|protein_coding|CODING|NM_021954.3|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,0.9798,1,0.97,0.91,1.00,,0.140096(N),1.000(P),-1.71(D),0.0000(T),0.016,-1.833613,4.3,-8.6,-4.629000,-4.220000,-0.004000,0.001000,0.000000,0.000000,3.8913
missense_variant,IFT88,MISSENSE,NM_175605.3:p.Met383Ile/c.1149G>A,atG/atA,MODERATE,COSM3753611(1),0.129992,0,rs2442455,0.21(T),"0.001,0.003,0.0,0.006(B,B,B,B)",0.55(N),-1.0152(T),,chr13,21189941,21189941,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met374Ile/c.1122G>A|824|IFT88|protein_coding|CODING|NM_006531.3|14|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met383Ile/c.1149G>A|833|IFT88|protein_coding|CODING|NM_175605.3|16|1)",HepG2:H3K36me3,,,,0.0532,0.134,0.1382,0.18,0.25,0.15,,0.000611(D),0.097(P),"1.59,1.59,1.59,1.6(T,T,T,T)",0.0000(T),0.195,2.419414,5.59,4.74,0.650000,2.625000,3.179000,0.996000,1.000000,1.000000,9.7533
missense_variant,IFT88,MISSENSE,NM_175605.3:p.Ser455Asn/c.1364G>A,aGt/aAt,MODERATE,,0.764776,0.994,rs9509307,0.25(T),"0.259,0.189,0.188(B,B,B)",2.475(M),-1.0408(T),,chr13,21205192,21205192,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser446Asn/c.1337G>A|824|IFT88|protein_coding|CODING|NM_006531.3|16|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser455Asn/c.1364G>A|833|IFT88|protein_coding|CODING|NM_175605.3|18|1)","HMEC:H3K36me3,HepG2:H3K36me3",,,,0.9018,0.7767,0.7217,0.66,0.54,0.72,,0.000000(D),0.000(P),"-1.05,0.57,0.57,0.57(T,T,T,T)",0.0000(T),0.297,3.065141,5.42,4.56,0.655000,1.248000,6.275000,0.997000,1.000000,1.000000,16.0975
synonymous_variant,XPO4,SILENT,NM_022459.4:p.Thr703Thr/c.2109T>C,acT/acC,LOW,,0.0617013,0,rs9579954,,,,,,chr13,21374333,21374333,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr703Thr/c.2109T>C|1151|XPO4|protein_coding|CODING|NM_022459.4|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.0403,0.1382,0.11,0.04,0.14,,,,,,,,,,,,,,,,
missense_variant,LATS2,MISSENSE,NM_014572.2:p.Gly363Ser/c.1087G>A,Ggc/Agc,MODERATE,COSM432207(16),0.85024,0.997,rs2770928,1(T),0.003(B),1.32(L),-0.9127(T),,chr13,21562832,21562832,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly363Ser/c.1087G>A|1088|LATS2|protein_coding|CODING|NM_014572.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8466,0.9135,0.8767,0.83,0.73,0.88,,0.806929(N),1.000(P),"0.4,0.4(T,T)",0.0000(T),0.089,0.087000,4.94,-1.07,-1.487000,-0.622000,0.768000,0.051000,0.000000,0.893000,11.4202
missense_variant,LATS2,MISSENSE,NM_014572.2:p.Ala324Val/c.971C>T,gCg/gTg,MODERATE,COSM432208(18),0.629593,0.5387,rs558614,0.34(T),0.028(B),-0.695(N),-0.9682(T),,chr13,21562948,21562948,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala324Val/c.971C>T|1088|LATS2|protein_coding|CODING|NM_014572.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.6888,0.7972,0.73,0.58,0.82,,0.911940(N),1.000(P),"0.29,0.29(T,T)",0.0000(T),0.094,0.517276,3.57,2.72,0.485000,0.682000,6.231000,0.251000,0.001000,1.000000,12.1462
synonymous_variant,LATS2,SILENT,NM_014572.2:p.Lys27Lys/c.81A>G,aaA/aaG,LOW,COSM3753615(1),0.807508,0.8839,rs386492050,,,,,,chr13,21620085,21620085,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys27Lys/c.81A>G|1088|LATS2|protein_coding|CODING|NM_014572.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.9192,0.8501,0.828,0.78,0.66,0.84,,,,,,,,,,,,,,,,
synonymous_variant,SKA3,SILENT,NM_145061.5:p.Pro362Pro/c.1086G>A,ccG/ccA,LOW,,0.923722,1,rs4770121,,,,,,chr13,21732094,21732094,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro362Pro/c.1086G>A|388|SKA3|protein_coding|CODING|NM_001166017.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro362Pro/c.1086G>A|412|SKA3|protein_coding|CODING|NM_145061.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.9888,0.938,0.9473,0.91,0.83,0.94,,,,,,,,,,,,,,,,
missense_variant,SKA3,MISSENSE,NM_145061.5:p.Asp335Glu/c.1005C>A,gaC/gaA,MODERATE,,0.0341454,0.0109,rs17279819,0.08(T),"0.027,0.039(B,B)",1.935(M),-1.0912(T),,chr13,21732175,21732175,G,T,het,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp335Glu/c.1005C>A|388|SKA3|protein_coding|CODING|NM_001166017.1|7|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp335Glu/c.1005C>A|412|SKA3|protein_coding|CODING|NM_145061.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0511,0.0418,0.0706,0.05,0.01,0.07,,0.145876(N),1.000(P),"1.48,1.5(T,T)",0.0062(T),0.065,0.564741,5.98,-0.684,0.591000,-0.458000,-0.629000,0.007000,0.000000,0.000000,6.9903
synonymous_variant,SKA3,SILENT,NM_145061.5:p.Ser329Ser/c.987G>A,tcG/tcA,LOW,COSM3753618(1),0.034345,0.0119,rs17345571,,,,,,chr13,21732193,21732193,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser329Ser/c.987G>A|388|SKA3|protein_coding|CODING|NM_001166017.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser329Ser/c.987G>A|412|SKA3|protein_coding|CODING|NM_145061.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0511,0.0418,0.0706,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,SKA3,MISSENSE,NM_145061.5:p.Thr254Ala/c.760A>G,Aca/Gca,MODERATE,COSM147641(1),0.0980431,0.0972,rs17345690,1(T),"0.02,0.02(B,B)",1.78(L),-0.9938(T),,chr13,21735998,21735998,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr254Ala/c.760A>G|388|SKA3|protein_coding|CODING|NM_001166017.1|5|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr254Ala/c.760A>G|412|SKA3|protein_coding|CODING|NM_145061.5|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1196,0.0735,0.1362,0.12,0.08,0.14,,0.514052(N),1.000(P),"1.93,1.93(T,T)",0.0002(T),0.01,1.523280,4.99,1.32,0.482000,0.436000,0.091000,0.059000,0.030000,0.001000,1.4913
synonymous_variant,MICU2,SILENT,NM_152726.2:p.Arg10Arg/c.30G>A,cgG/cgA,LOW,COSM3749240(7),0.0908546,0.002,rs9509812,,,,,,chr13,22178258,22178258,C,T,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg10Arg/c.30G>A|434|MICU2|protein_coding|CODING|NM_152726.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,GM12878:ZBTB33,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HepG2:ZBTB33,K562:ZBTB33,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.0838,0.1441,0.2545,0.13,0.03,0.18,,,,,,,,,,,,,,,,
synonymous_variant,FGF9,SILENT,NM_002010.2:p.Ser149Ser/c.447A>G,tcA/tcG,LOW,,0.832468,0.9603,rs9509841,,,,,,chr13,22275394,22275394,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser149Ser/c.447A>G|208|FGF9|protein_coding|CODING|NM_002010.2|3|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.9192,0.8847,0.8449,0.77,0.66,0.83,,,,,,,,,,,,,,,,
missense_variant,SGCG,MISSENSE,NM_000231.2:p.Asn287Ser/c.860A>G,aAc/aGc,MODERATE,COSM4147635(1),0.877796,0.999,rs1800354,1(T),0.0(B),-1.95(N),-0.9279(T),,chr13,23898664,23898664,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn287Ser/c.860A>G|291|SGCG|protein_coding|CODING|NM_000231.2|8|1),"NH-A:H3K4me1,IMR90:H3K4me1,NH-A:H3K27ac",,,,0.9346,0.9308,0.8946,0.82,0.73,0.87,,0.000629(N),1.000(P),"-1.82,-1.82,-1.82(D,D,D)",0.0000(T),0.072,-0.559727,5.41,5.41,-0.128000,1.305000,4.017000,0.136000,0.202000,1.000000,14.4221
synonymous_variant,SACS,SILENT,NM_014363.5:p.Gln3446Gln/c.10338G>A,caG/caA,LOW,,0.985423,1,rs2737701,,,,,,chr13,23907677,23907677,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln3299Gln/c.9897G>A|4432|SACS|protein_coding|CODING|NM_001278055.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln3446Gln/c.10338G>A|4579|SACS|protein_coding|CODING|NM_014363.5|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118229.2,,1,1,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SACS,SILENT,NM_014363.5:p.Ala3327Ala/c.9981T>C,gcT/gcC,LOW,COSM3999043(1),0.338658,0.4127,rs2737700,,,,,,chr13,23908034,23908034,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3180Ala/c.9540T>C|4432|SACS|protein_coding|CODING|NM_001278055.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3327Ala/c.9981T>C|4579|SACS|protein_coding|CODING|NM_014363.5|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118235.2,,0.407,0.3991,0.4394,0.35,0.17,0.44,,,,,,,,,,,,,,,,
synonymous_variant,TNFRSF19,SILENT,NM_018647.3:p.Ser208Ser/c.624A>G,tcA/tcG,LOW,,0.659944,0.5893,rs3751364,,,,,,chr13,24234517,24234517,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser208Ser/c.624A>G|417|TNFRSF19|protein_coding|CODING|NM_001204458.1|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser76Ser/c.228A>G|285|TNFRSF19|protein_coding|CODING|NM_001204459.1|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser208Ser/c.624A>G|423|TNFRSF19|protein_coding|CODING|NM_018647.3|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser208Ser/c.624A>G|417|TNFRSF19|protein_coding|CODING|NM_148957.3|7|1)","NH-A:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6329,0.7147,0.7982,0.74,0.64,0.79,,,,,,,,,,,,,,,,
synonymous_variant,TNFRSF19,SILENT,NM_018647.3:p.Gly403Gly/c.1209T>C,ggT/ggC,LOW,COSM4147640(1),0.802716,0.8204,rs3751363,,,,,,chr13,24243200,24243200,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly403Gly/c.1209T>C|417|TNFRSF19|protein_coding|CODING|NM_001204458.1|9|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly271Gly/c.813T>C|285|TNFRSF19|protein_coding|CODING|NM_001204459.1|7|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly403Gly/c.1209T>C|417|TNFRSF19|protein_coding|CODING|NM_148957.3|9|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly403Gly/c.1209T>C|423|TNFRSF19|protein_coding|CODING|NM_018647.3|9|1)","NH-A:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7597,0.9107,0.8648,0.84,0.77,0.88,,,,,,,,,,,,,,,,
missense_variant,MIPEP,MISSENSE,NM_005932.3:p.Ser488Gly/c.1462A>G,Agc/Ggc,MODERATE,,0.983027,1,rs7333040,1(T),0.006(B),-0.155(N),-0.9180(T),,chr13,24411772,24411772,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser488Gly/c.1462A>G|713|MIPEP|protein_coding|CODING|NM_005932.3|13|1),"HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9939,0.9957,0.998,0.99,0.96,1.00,,0.000000(N),0.992(P),3.1(T),0.0000(T),0.148,1.120603,5.82,5.82,-0.227000,1.486000,5.995000,0.903000,0.867000,1.000000,15.2073
synonymous_variant,C1QTNF9B,SILENT,NM_001007537.2:p.Asn229Asn/c.687T>C,aaT/aaC,LOW,,0.983826,1,rs3864971,,,,,,chr13,24465743,24465743,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn229Asn/c.687T>C|333|C1QTNF9B|protein_coding|CODING|NM_001007537.2|3|1),intron_variant(MODIFIER|||c.33-9A>G|116|C1QTNF9B-AS1|protein_coding|CODING|NM_001135816.1|3|1),intron_variant(MODIFIER|||n.476-93T>C||C1QTNF9B||CODING|NR_104426.1|5|1),intron_variant(MODIFIER|||c.6-9A>G|107|C1QTNF9B-AS1|protein_coding|CODING|NM_001014442.2|3|1)",IMR90:H3K36me3,,,,1,0.9971,0.999,0.98,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SPATA13,SILENT,NM_001286792.1:p.Asp344Asp/c.1032C>T,gaC/gaT,LOW,,0.26258,0.4405,rs1220546,,,,-1.0244(T),,chr13,24797913,24797913,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp282Asp/c.846C>T|1277|SPATA13|protein_coding|CODING|NM_001166271.2|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp344Asp/c.1032C>T|1339|SPATA13|protein_coding|CODING|NM_001286792.1|4|1),intron_variant(MODIFIER|||c.-222-25702C>T|652|SPATA13|protein_coding|CODING|NM_153023.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,HepG2:H3K36me3",,,,0.3006,0.196,0.2942,0.26,0.15,0.31,,,1.000(P),,0.0000(T),.,-0.023136,4.62,-9.24,-1.555000,-3.430000,-2.827000,0.000000,0.000000,0.000000,2.1055
synonymous_variant,SPATA13,SILENT,NM_001286792.1:p.Leu413Leu/c.1239T>C,ctT/ctC,LOW,,0.504593,0.505,rs1220547,,,,-0.9773(T),,chr13,24798120,24798120,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu351Leu/c.1053T>C|1277|SPATA13|protein_coding|CODING|NM_001166271.2|2|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu413Leu/c.1239T>C|1339|SPATA13|protein_coding|CODING|NM_001286792.1|4|1),intron_variant(MODIFIER|||c.-222-25495T>C|652|SPATA13|protein_coding|CODING|NM_153023.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K8ac,GM12878:ELF1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:DNase1",,,,0.3978,0.3602,0.4672,0.54,0.67,0.48,,,1.000(P),,0.0000(T),.,0.470986,4.68,-9.36,-0.349000,-2.428000,-1.011000,0.008000,0.000000,0.000000,1.2491
missense_variant,C1QTNF9,MISSENSE,NM_178540.3:p.Met219Val/c.655A>G,Atg/Gtg,MODERATE,,,,rs3751357,0.67(T),,-0.73(N),-0.9387(T),,chr13,24895559,24895559,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met219Val/c.655A>G|333|C1QTNF9|protein_coding|CODING|NM_178540.3|4|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(P),,0.0000(T),.,-2.382053,3.96,-1.55,-0.471000,-0.438000,-0.038000,0.429000,0.000000,0.000000,0.9848
synonymous_variant,C1QTNF9,SILENT,NM_178540.3:p.Arg260Arg/c.780A>G,agA/agG,LOW,,0.895767,0.9573,rs2862239,0.83(T),,,-0.9876(T),,chr13,24895684,24895684,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg260Arg/c.780A>G|333|C1QTNF9|protein_coding|CODING|NM_178540.3|4|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.9652,0.8991,0.9205,0.88,0.77,0.93,,,0.000(P),,0.0000(T),.,1.918809,3.96,-0.126,-0.471000,-0.185000,0.638000,0.861000,0.787000,0.997000,6.0542
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Ala1656Pro/c.4966G>C,Gct/Cct,MODERATE,COSM147645(3),0.419928,0.3671,rs7571,0.32(T),0.002(B),1.04(L),-0.9556(T),,chr13,25000617,25000617,C,G,het,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala1656Pro/c.4966G>C|1724|PARP4|protein_coding|CODING|NM_006437.3|33|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.3559,0.4105,0.44,0.57,0.37,,0.174485(N),1.000(P),-2.39(D),0.0000(T),0.089,0.451821,4.09,-4.32,-0.371000,-0.515000,-2.291000,0.133000,0.000000,0.000000,3.8199
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Ile1564Thr/c.4691T>C,aTa/aCa,MODERATE,,0.948083,0.994,rs1372085,0.63(T),0.0(B),-1.1(N),-1.0412(T),,chr13,25008588,25008588,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile1564Thr/c.4691T>C|1724|PARP4|protein_coding|CODING|NM_006437.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9642,0.9654,0.9513,0.93,0.89,0.96,,0.269869(N),1.000(P),4.73(T),0.0000(T),0.022,-1.310465,2.71,-3.16,-1.507000,-1.036000,-1.612000,0.001000,0.000000,0.000000,1.3284
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Leu1550Pro/c.4649T>C,cTg/cCg,MODERATE,,0.942692,0.9931,rs1822135,0.62(T),0.0(B),-1.1(N),-1.0664(T),,chr13,25008630,25008630,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1550Pro/c.4649T>C|1724|PARP4|protein_coding|CODING|NM_006437.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9642,0.9654,0.9513,0.93,0.88,0.96,,0.333097(U),1.000(P),4.62(T),0.0000(T),0.014,-0.225647,2.72,-0.141,-0.741000,0.049000,-0.655000,0.002000,0.000000,0.000000,5.1097
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Ser1459Tyr/c.4376C>A,tCc/tAc,MODERATE,,0.943091,0.994,rs45439895,1(T),0.037(B),1.445(L),-0.9431(T),,chr13,25008903,25008903,G,T,hom,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser1459Tyr/c.4376C>A|1724|PARP4|protein_coding|CODING|NM_006437.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9642,0.9654,0.9513,,,,,0.004023(U),1.000(P),4.55(T),0.0000(T),0.246,-1.362403,2.78,-0.0634,-0.379000,-0.197000,0.271000,0.001000,0.000000,0.001000,5.2829
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Ser1394Ala/c.4180T>G,Tca/Gca,MODERATE,,0.948083,0.994,rs9511259,1(T),0.0(B),-0.345(N),-0.9572(T),,chr13,25009099,25009099,A,C,hom,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser1394Ala/c.4180T>G|1724|PARP4|protein_coding|CODING|NM_006437.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9642,0.9654,0.9513,0.93,0.89,0.96,,0.037229(N),1.000(P),4.68(T),0.0000(T),0.055,-1.916674,2.01,-4.03,-0.648000,-1.579000,-3.575000,0.001000,0.000000,0.000000,0.0884
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Pro1328Thr/c.3982C>A,Ccc/Acc,MODERATE,COSM3765682(2),0.384984,0.3601,rs1050112,0.54(T),0.007(B),0.345(N),-0.9383(T),,chr13,25009297,25009297,G,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro1328Thr/c.3982C>A|1724|PARP4|protein_coding|CODING|NM_006437.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2751,0.3473,0.4115,0.41,0.47,0.37,,0.000278(U),1.000(P),4.68(T),0.0000(T),0.07,-1.122756,2.34,-4.69,-1.800000,-1.483000,0.632000,0.000000,0.000000,0.003000,8.7913
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Gly1280Arg/c.3838G>C,Ggt/Cgt,MODERATE,COSM147646(2),0.385184,0.3601,rs13428,0.22(T),0.037(B),0.55(N),-0.9884(T),,chr13,25009441,25009441,C,G,het,missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly1280Arg/c.3838G>C|1724|PARP4|protein_coding|CODING|NM_006437.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2751,0.3473,0.4125,0.41,0.47,0.37,,0.377866(U),1.000(P),4.7(T),0.0000(T),0.043,-0.017936,1.95,-1.34,-0.802000,-0.420000,-1.178000,0.001000,0.000000,0.000000,5.0283
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Gly1265Ala/c.3794G>C,gGc/gCc,MODERATE,COSM3765683(3),0.386382,0.3601,rs1050110,0.79(T),0.0(B),0.695(N),-0.9354(T),,chr13,25009485,25009485,C,G,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly1265Ala/c.3794G>C|1724|PARP4|protein_coding|CODING|NM_006437.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2751,0.3473,0.4175,0.41,0.48,0.37,,0.004944(N),1.000(P),4.75(T),0.0000(T),0.027,-2.709352,1.95,-2.08,-1.962000,-1.265000,-2.921000,0.008000,0.000000,0.000000,4.05
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Glu1214Glu/c.3642G>A,gaG/gaA,LOW,COSM3765684(4),,,rs59195808,,,,,,chr13,25016008,25016008,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1214Glu/c.3642G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|30|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Ser1186Ser/c.3558G>A,tcG/tcA,LOW,,0.384585,0.3601,rs55888616,,,,,,chr13,25016092,25016092,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1186Ser/c.3558G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|30|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2751,0.3473,0.4115,,,,,,,,,,,,,,,,,,,
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Arg1108Cys/c.3322C>T,Cgt/Tgt,MODERATE,,0.876597,0.9663,rs9318554,0.16(T),0.0(B),-0.345(N),-0.9626(T),,chr13,25020863,25020863,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1108Cys/c.3322C>T|1724|PARP4|protein_coding|CODING|NM_006437.3|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.956,0.9395,0.9404,0.86,0.71,0.94,,0.360720(N),1.000(P),-0.08(T),0.0000(T),0.084,-0.128732,4.71,-0.387,-2.555000,-0.157000,-0.218000,0.296000,0.656000,0.042000,1.9161
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Leu1080Arg/c.3239T>G,cTc/cGc,MODERATE,,0.948283,0.994,rs9318558,0.57(T),0.0(B),-0.695(N),-1.0258(T),,chr13,25021200,25021200,A,C,hom,missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu1080Arg/c.3239T>G|1724|PARP4|protein_coding|CODING|NM_006437.3|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9642,0.9654,0.9513,0.93,0.89,0.95,,0.003328(N),1.000(P),4.77(T),0.0000(T),0.088,-1.430436,4.71,2.31,-1.127000,0.093000,-0.022000,0.014000,0.456000,0.010000,3.9198
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Pro1076Pro/c.3228G>A,ccG/ccA,LOW,,0.786941,0.9177,rs7333856,,,,,,chr13,25021211,25021211,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1076Pro/c.3228G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9376,0.8588,0.8777,,,,,,,,,,,,,,,,,,,
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Val1065Ala/c.3194T>C,gTg/gCg,MODERATE,,,,rs7334587,1(T),0.0(B),-2.175(N),-1.0339(T),,chr13,25021245,25021245,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1065Ala/c.3194T>C|1724|PARP4|protein_coding|CODING|NM_006437.3|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.014856(N),1.000(P),4.7(T),0.0000(T),0.01,-2.637735,4.71,2.05,-1.695000,0.060000,0.482000,0.001000,0.000000,0.001000,1.5056
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Val1012Ile/c.3034G>A,Gtc/Atc,MODERATE,,0.133786,0.0317,rs9581043,1(T),0.006(B),0.145(N),-0.9840(T),,chr13,25023936,25023936,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1012Ile/c.3034G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.0951,0.0974,0.17,0.28,0.12,,0.000184(N),1.000(P),3.15(T),0.0000(T),0.025,-1.973345,4.64,-3.78,-1.553000,-1.306000,0.120000,0.247000,0.015000,0.923000,7.7815
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Met936Thr/c.2807T>C,aTg/aCg,MODERATE,,0.936502,0.994,rs4770684,0.63(T),0.003(B),1.1(L),-0.9998(T),,chr13,25027744,25027744,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met936Thr/c.2807T>C|1724|PARP4|protein_coding|CODING|NM_006437.3|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9755,0.9672,0.93,0.87,0.97,,0.063999(N),1.000(P),3.21(T),0.0000(T),0.043,-0.793389,4.29,-8.59,-2.627000,-2.265000,-1.813000,0.000000,0.000000,0.000000,5.6187
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Ala899Thr/c.2695G>A,Gcc/Acc,MODERATE,COSM4147649(1),0.654153,0.6498,rs2275660,0.12(T),0.999(D),2.02(M),-1.1278(T),,chr13,25029218,25029218,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala899Thr/c.2695G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.8098,0.7763,0.68,0.50,0.77,,0.000000(D),0.000(P),3.11(T),0.0000(T),0.229,3.303185,4.72,4.72,0.573000,2.481000,5.868000,0.110000,0.215000,1.000000,15.2852
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Ser873Asn/c.2618G>A,aGt/aAt,MODERATE,,0.224641,0.3194,rs7140044,0.5(T),0.0(B),0(N),-0.9025(T),,chr13,25029295,25029295,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser873Asn/c.2618G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2485,0.147,0.1769,0.19,0.21,0.19,,0.083932(N),1.000(P),4.56(T),0.0000(T),0.031,0.435339,4.82,-6.65,-1.021000,-1.983000,-0.436000,0.000000,0.000000,0.000000,4.2869
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Thr802Thr/c.2406A>T,acA/acT,LOW,,0.090655,0.0317,rs1130941,,,,,,chr13,25033200,25033200,T,A,het,synonymous_variant(LOW|SILENT|acA/acT|p.Thr802Thr/c.2406A>T|1724|PARP4|protein_coding|CODING|NM_006437.3|20|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.072,0.0934,0.13,0.16,0.12,,,,,,,,,,,,,,,,
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Tyr793Tyr/c.2379T>C,taT/taC,LOW,,0.0902556,0.0317,rs1050107,,,,,,chr13,25033227,25033227,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr793Tyr/c.2379T>C|1724|PARP4|protein_coding|CODING|NM_006437.3|20|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.072,0.0934,0.13,0.16,0.12,,,,,,,,,,,,,,,,
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Ser534Ser/c.1602G>A,tcG/tcA,LOW,,0.544529,0.5992,rs4770696,,,,,,chr13,25052261,25052261,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser534Ser/c.1602G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6738,0.5677,0.5,0.50,0.43,0.53,,,,,,,,,,,,,,,,
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Leu449Leu/c.1345T>C,Ttg/Ctg,LOW,,0.038738,0.002,rs73154350,,,,,,chr13,25060313,25060313,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu449Leu/c.1345T>C|1724|PARP4|protein_coding|CODING|NM_006437.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.047,0.0591,0.0934,0.08,0.03,0.11,,,,,,,,,,,,,,,,
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Phe215Tyr/c.644T>A,tTt/tAt,MODERATE,,0.0756789,0.0317,rs9318600,1(T),0.0(B),-1.935(N),-1.0127(T),,chr13,25068808,25068808,A,T,het,missense_variant(MODERATE|MISSENSE|tTt/tAt|p.Phe215Tyr/c.644T>A|1724|PARP4|protein_coding|CODING|NM_006437.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.0634,0.0944,0.12,0.13,0.12,,0.000078(N),1.000(P),1.06(T),0.0002(T),0.118,-1.523172,4.52,3.26,-0.383000,0.782000,1.886000,0.057000,0.658000,1.000000,8.2978
missense_variant,PARP4,MISSENSE,NM_006437.3:p.Ser122Asn/c.365G>A,aGt/aAt,MODERATE,,0.0638978,0.0317,rs9578751,0.69(T),0.0(B),-0.51(N),-1.0506(T),,chr13,25074490,25074490,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser122Asn/c.365G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.0591,0.0924,0.11,0.09,0.11,,0.423829(N),1.000(N),0.92(T),0.0010(T),0.003,-0.514674,3.38,-3.55,-1.427000,-0.749000,-2.085000,0.002000,0.000000,0.000000,9.1088
synonymous_variant,PARP4,SILENT,NM_006437.3:p.Arg82Arg/c.246G>A,agG/agA,LOW,COSM3753627(1),0.605232,0.6062,rs1539096,,,,,,chr13,25075859,25075859,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg82Arg/c.246G>A|1724|PARP4|protein_coding|CODING|NM_006437.3|3|1),"H1ESC:H3K36me3,NHEK:H3K4me1,HSMM:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,GM06990:H3K36me3",,,,0.684,0.6037,0.5119,0.55,0.58,0.54,,,,,,,,,,,,,,,,
synonymous_variant,ATP12A,SILENT,NM_001185085.1:p.Val279Val/c.837T>C,gtT/gtC,LOW,COSM3753628(2),0.295527,0.4762,rs2071490,,,,,,chr13,25265139,25265139,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val279Val/c.837T>C|1045|ATP12A|protein_coding|CODING|NM_001185085.1|8|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val273Val/c.819T>C|1039|ATP12A|protein_coding|CODING|NM_001676.5|8|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3333,0.3617,0.1899,0.20,0.18,0.22,,,,,,,,,,,,,,,,
synonymous_variant,ATP12A,SILENT,NM_001185085.1:p.Val431Val/c.1293C>A,gtC/gtA,LOW,COSM3765685(2),0.232628,0.4593,rs963984,,,,,,chr13,25266932,25266932,C,A,het,"synonymous_variant(LOW|SILENT|gtC/gtA|p.Val431Val/c.1293C>A|1045|ATP12A|protein_coding|CODING|NM_001185085.1|10|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val425Val/c.1275C>A|1039|ATP12A|protein_coding|CODING|NM_001676.5|10|1)","HUVEC:H3K27me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2526,0.2983,0.0805,0.10,0.11,0.09,,,,,,,,,,,,,,,,
synonymous_variant,RNF17,SILENT,NM_031277.2:p.Phe194Phe/c.582T>C,ttT/ttC,LOW,COSM4147655(1),0.437899,0.4315,rs9707144,,,,,,chr13,25356053,25356053,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe194Phe/c.582T>C|1619|RNF17|protein_coding|CODING|NM_001184993.1|6|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe194Phe/c.582T>C|1623|RNF17|protein_coding|CODING|NM_031277.2|6|1)",HMEC:H3K27me3,,,,0.4192,0.4712,0.3748,0.43,0.47,0.41,,,,,,,,,,,,,,,,
synonymous_variant,RNF17,SILENT,NM_031277.2:p.Leu353Leu/c.1057C>T,Cta/Tta,LOW,,0.250599,0.3542,rs1158061,,,,,,chr13,25367301,25367301,C,T,hom,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu353Leu/c.1057C>T|1619|RNF17|protein_coding|CODING|NM_001184993.1|10|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu353Leu/c.1057C>T|1623|RNF17|protein_coding|CODING|NM_031277.2|10|1)","HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.3282,0.3228,0.2097,0.20,0.11,0.24,,,,,,,,,,,,,,,,
synonymous_variant,RNF17,SILENT,NM_031277.2:p.Thr1020Thr/c.3060A>G,acA/acG,LOW,,0.864217,0.8353,rs6490984,,,,,,chr13,25419176,25419176,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1020Thr/c.3060A>G|1619|RNF17|protein_coding|CODING|NM_001184993.1|22|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1020Thr/c.3060A>G|1623|RNF17|protein_coding|CODING|NM_031277.2|22|1)","HUVEC:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9325,0.8343,0.8678,0.86,0.86,0.86,,,,,,,,,,,,,,,,
synonymous_variant,CENPJ,SILENT,NM_018451.4:p.Glu1014Glu/c.3042A>G,gaA/gaG,LOW,COSM4147658(1),0.484026,0.7024,rs3742165,,,,-0.9462(T),,chr13,25466955,25466955,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1014Glu/c.3042A>G|1338|CENPJ|protein_coding|CODING|NM_018451.4|10|1),non_coding_exon_variant(MODIFIER|||n.3237A>G||CENPJ||CODING|NR_047594.1|10|1),non_coding_exon_variant(MODIFIER|||n.3237A>G||CENPJ||CODING|NR_047595.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4898,0.5836,0.507,0.45,0.29,0.54,,,0.000(P),,0.0000(T),.,0.896043,5.22,4.02,0.454000,2.106000,0.181000,0.928000,1.000000,0.993000,8.1855
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Gln172Arg/c.515A>G,cAa/cGa,MODERATE,COSM4147662(1),0.0505192,0.0268,rs75475407,1(T),0.0(B),0.02(N),-0.9843(T),,chr13,25670851,25670851,A,G,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln172Arg/c.515A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0603,0.0576,0.0318,,,,,0.142734(N),1.000(N),-0.96(T),0.1222(T),0.215,-1.215282,0.828,-0.101,-0.769000,-0.074000,4.799000,0.168000,0.921000,1.000000,5.2926
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Glu178Lys/c.532G>A,Gaa/Aaa,MODERATE,,0.0523163,0.0298,rs200859889,0.02(D),0.094(B),1.87(L),-0.3850(T),,chr13,25670868,25670868,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu178Lys/c.532G>A|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0613,0.0591,0.0308,,,,,0.000224(U),1.000(D),-2.04(D),0.3937(T),0.352,2.906877,0.828,0.828,0.305000,0.748000,6.438000,0.390000,0.959000,1.000000,7.4633
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Arg179Arg/c.537A>G,cgA/cgG,LOW,COSM3773667(1),0.0547125,0.0347,rs77142265,,,,,,chr13,25670873,25670873,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg179Arg/c.537A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0644,0.0591,0.0318,,,,,,,,,,,,,,,,,,,
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Ala181Thr/c.541G>A,Gct/Act,MODERATE,COSM3773668(2),0.0071885,0.002,rs112107735,0.08(T),0.253(B),2.115(M),-0.2807(T),,chr13,25670877,25670877,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala181Thr/c.541G>A|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.0043,0.003,,,,,0.000272(U),0.995(D),-2.01(D),0.4605(T),0.169,3.133453,0.828,0.828,0.305000,0.748000,4.761000,0.379000,0.873000,1.000000,7.4633
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Pro191Thr/c.571C>A,Ccc/Acc,MODERATE,,,,rs76264750,1(T),0.0(B),-1.935(N),-0.7555(T),,chr13,25670907,25670907,C,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro191Thr/c.571C>A|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.005664(N),0.990(N),-1.98(D),0.1194(T),0.377,-1.725491,1.27,-2.55,-0.738000,-0.661000,4.521000,0.792000,0.927000,1.000000,6.4602
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Ile195Val/c.583A>G,Atc/Gtc,MODERATE,,0.00399361,0.002,rs76861216,1(T),0.023(B),-0.495(N),-0.9202(T),,chr13,25670919,25670919,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile195Val/c.583A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0072,0.001,,,,,0.000219(U),0.988(D),3.09(T),0.0060(T),0.228,-1.206746,1.27,-2.55,-0.624000,-0.662000,3.564000,0.948000,0.850000,1.000000,2.297
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Arg206His/c.617G>A,cGc/cAc,MODERATE,,0.0091853,0.001,rs74040928,0.08(T),0.043(B),0.755(N),-0.7340(T),,chr13,25670953,25670953,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg206His/c.617G>A|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0101,0.002,,,,,0.026238(N),0.524(D),-1.84(D),0.3164(T),0.344,1.304939,1.6,-0.646,-0.463000,-0.208000,2.711000,0.957000,0.938000,1.000000,3.6078
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Leu207Phe/c.619C>T,Ctt/Ttt,MODERATE,,0.00539137,0.001,rs79397892,0.24(T),0.978(D),2.505(M),-0.8516(T),,chr13,25670955,25670955,C,T,het,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu207Phe/c.619C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0101,0.001,,,,,0.000779(U),0.999(D),0.9(T),0.2031(T),0.61,2.174917,1.6,0.594,0.455000,0.170000,3.710000,0.969000,0.953000,1.000000,6.6283
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Phe214Phe/c.642C>T,ttC/ttT,LOW,COSM1366068(2),0.00519169,0.001,,,,,,,chr13,25670978,25670978,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe214Phe/c.642C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0058,0.003,,,,,,,,,,,,,,,,,,,
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Gly215Gly/c.645G>C,ggG/ggC,LOW,,0.00539137,0.002,rs77476965,,,,,,chr13,25670981,25670981,G,C,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly215Gly/c.645G>C|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0058,0.003,,,,,,,,,,,,,,,,,,,
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Pro216Pro/c.648C>T,ccC/ccT,LOW,,0.0259585,0.001,rs11619791,,,,,,chr13,25670984,25670984,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro216Pro/c.648C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0123,0.0331,0.0437,0.04,0.03,0.05,,,,,,,,,,,,,,,,
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Leu218Val/c.652T>G,Tta/Gta,MODERATE,,0.00559105,0.002,rs74564616,0.48(T),0.041(B),-0.255(N),-0.8733(T),,chr13,25670988,25670988,T,G,het,missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu218Val/c.652T>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0086,0.002,,,,,0.004468(U),0.691(D),-2.0(D),0.2324(T),0.268,0.014731,0.993,0.993,0.374000,0.692000,0.559000,0.660000,0.615000,0.987000,2.8944
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Thr224Thr/c.672C>T,acC/acT,LOW,,,,rs76447065,,,,,,chr13,25671008,25671008,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr224Thr/c.672C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Ser227Gly/c.679A>G,Agt/Ggt,MODERATE,,0.0251597,0.0119,rs75314628,0.09(T),0.027(B),1.02(L),-0.6739(T),,chr13,25671015,25671015,A,G,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser227Gly/c.679A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0184,0.013,0.0139,,,,,0.001298(U),0.989(N),-2.44(D),0.4175(T),0.298,0.823719,0.993,-1.99,-0.714000,-0.777000,0.933000,0.898000,0.565000,0.552000,2.9462
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Lys231Glu/c.691A>G,Aaa/Gaa,MODERATE,COSM4147663(1),,,rs78826513,0(D),0.953(D),3.095(M),-0.9743(T),,chr13,25671027,25671027,A,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys231Glu/c.691A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000136(U),0.669(D),3.05(T),0.0663(T),0.403,2.631048,0.993,0.993,0.374000,0.692000,2.374000,0.967000,0.994000,0.998000,6.1165
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Glu242Glu/c.726A>G,gaA/gaG,LOW,COSM3746328(3),,,rs78534836,,,,,,chr13,25671062,25671062,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu242Glu/c.726A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Val248Val/c.744A>G,gtA/gtG,LOW,COSM3746329(4),,,rs76241879,,,,,,chr13,25671080,25671080,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val248Val/c.744A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Met251Ile/c.753G>T,atG/atT,MODERATE,COSM3746330(4),,,rs75281454,0.02(D),0.564(P),2.315(M),-1.0833(T),,chr13,25671089,25671089,G,T,het,missense_variant(MODERATE|MISSENSE|atG/atT|p.Met251Ile/c.753G>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000023(U),1.000(D),2.27(T),0.0660(T),0.419,1.414895,0.875,0.875,0.313000,0.759000,6.590000,0.281000,0.961000,1.000000,7.5489
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Tyr262Tyr/c.786C>T,taC/taT,LOW,COSM4147664(5),,,rs79072440,,,,,,chr13,25671122,25671122,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr262Tyr/c.786C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Lys269Lys/c.807A>G,aaA/aaG,LOW,,,,rs78671990,,,,,,chr13,25671143,25671143,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys269Lys/c.807A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Arg278Cys/c.832C>T,Cgc/Tgc,MODERATE,,,,rs78552667,0(D),0.082(B),3.46(M),-1.1220(T),,chr13,25671168,25671168,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg278Cys/c.832C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000179(U),1.000(D),3.29(T),0.0276(T),0.311,1.700375,0.875,-0.194,0.313000,-0.094000,3.740000,0.921000,0.992000,1.000000,5.1429
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Thr279Lys/c.836C>A,aCa/aAa,MODERATE,,,,rs79593984,1(T),0.0(B),-3.005(N),-0.9296(T),,chr13,25671172,25671172,C,A,het,missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr279Lys/c.836C>A|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.004151(N),1.000(N),1.79(T),0.0067(T),0.244,-1.623694,0.875,-0.613,-0.875000,-0.179000,2.767000,0.898000,0.991000,1.000000,5.0095
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Ile288Ile/c.864C>T,atC/atT,LOW,,,,rs76111404,,,,,,chr13,25671200,25671200,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile288Ile/c.864C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PABPC3,SILENT,NM_030979.2:p.Arg290Arg/c.870A>G,agA/agG,LOW,COSM3773670(2),,,rs76614854,,,,,,chr13,25671206,25671206,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg290Arg/c.870A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
stop_gained,PABPC3,NONSENSE,NM_030979.2:p.Gln292*/c.874C>T,Cag/Tag,HIGH,,,,rs80062522,0.05(D),,,,,chr13,25671210,25671210,C,T,het,stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln292*/c.874C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000367(U),1.000(D),,,.,5.443809,0.875,0.875,0.313000,0.759000,5.304000,0.558000,0.991000,1.000000,7.5489
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Val293Gly/c.878T>G,gTt/gGt,MODERATE,,,,rs201081849,1(T),0.0(B),-3.775(N),-0.9138(T),,chr13,25671214,25671214,T,G,het,missense_variant(MODERATE|MISSENSE|gTt/gGt|p.Val293Gly/c.878T>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.006144(N),0.972(D),3.5(T),0.0015(T),0.451,-2.715261,0.875,-1.75,-0.940000,-1.432000,3.852000,0.471000,0.954000,1.000000,3.2748
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Lys312Arg/c.935A>G,aAa/aGa,MODERATE,COSM3734042(1),,,rs79246694,0.06(T),0.344(B),0.17(N),-1.0433(T),,chr13,25671271,25671271,A,G,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys312Arg/c.935A>G|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000124(U),1.000(D),2.34(T),0.0256(T),0.327,0.814470,0.875,0.875,0.260000,0.632000,6.256000,0.141000,0.805000,1.000000,5.8995
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Ala313Val/c.938C>T,gCg/gTg,MODERATE,COSM3749241(2),0.000399361,0,rs76994938,0.16(T),0.018(B),0.355(N),-1.0391(T),,chr13,25671274,25671274,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala313Val/c.938C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0.0014,0,,,,,0.046779(U),0.934(N),2.39(T),0.0187(T),0.332,0.330100,0.875,-1.75,-0.823000,-0.235000,4.520000,0.135000,0.819000,1.000000,5.0047
missense_variant,PABPC3,MISSENSE,NM_030979.2:p.Thr319Ile/c.956C>T,aCa/aTa,MODERATE,COSM4147665(1),,,rs80261016,0(D),0.45(P),0.935(L),-1.0903(T),,chr13,25671292,25671292,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr319Ile/c.956C>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000186(U),1.000(D),2.36(T),0.0336(T),0.409,3.079417,0.875,0.875,0.313000,0.759000,5.304000,0.888000,0.999000,1.000000,7.5489
stop_gained,PABPC3,NONSENSE,NM_030979.2:p.Glu345*/c.1033G>T,Gaa/Taa,HIGH,COSM3773671(2),,,rs76804900,0(D),,,,,chr13,25671369,25671369,G,T,het,stop_gained(HIGH|NONSENSE|Gaa/Taa|p.Glu345*/c.1033G>T|631|PABPC3|protein_coding|CODING|NM_030979.2|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000207(U),1.000(D),,,.,6.694737,0.875,0.875,0.313000,0.759000,6.589000,0.917000,0.997000,1.000000,7.5489
synonymous_variant,MTMR6,SILENT,NM_004685.3:p.Gln501Gln/c.1503A>G,caA/caG,LOW,COSM147649(1),0.598442,0.7024,rs4312169,,,,,,chr13,25825889,25825889,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln501Gln/c.1503A>G|621|MTMR6|protein_coding|CODING|NM_004685.3|13|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.6728,0.5865,0.838,0.68,0.35,0.85,,,,,,,,,,,,,,,,
missense_variant,MTMR6,MISSENSE,NM_004685.3:p.Ile319Val/c.955A>G,Atc/Gtc,MODERATE,COSM147651(1),0.492212,0.5665,rs7995033,1(T),"0.001,0.001(B,B)",-0.145(N),-0.9512(T),,chr13,25831888,25831888,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile319Val/c.955A>G|621|MTMR6|protein_coding|CODING|NM_004685.3|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5235,0.513,0.838,0.64,0.24,0.84,,0.000118(D),0.073(P),"-2.58,-2.58(D,D)",0.0000(T),0.06,0.858231,5.49,3.03,0.460000,0.923000,1.437000,0.977000,1.000000,0.993000,8.4821
missense_variant,NUPL1,MISSENSE,NM_014089.3:p.Ala34Thr/c.100G>A,Gcg/Acg,MODERATE,COSM3753633(2),0.367212,0.5585,rs11556093,1(T),"0.001,0.001,0.001(B,B,B)",0.35(N),-0.9265(T),,chr13,25876011,25876011,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala34Thr/c.100G>A|587|NUPL1|protein_coding|CODING|NM_001008564.1|1|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala34Thr/c.100G>A|599|NUPL1|protein_coding|CODING|NM_014089.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4294,0.3646,0.5089,0.40,0.14,0.53,,0.044626(N),0.153(P),"1.43,1.34,1.45,1.31(T,T,T,T)",0.0000(T),0.244,0.535406,4.4,-0.146,0.591000,0.069000,-0.185000,0.042000,0.117000,0.001000,3.9442
synonymous_variant,ATP8A2,SILENT,NM_016529.4:p.Gly48Gly/c.144A>C,ggA/ggC,LOW,COSM4147666(1),0.204073,0.119,rs7317185,0.65(T),,,-0.9459(T),,chr13,26043182,26043182,A,C,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly48Gly/c.144A>C|1188|ATP8A2|protein_coding|CODING|NM_016529.4|2|1),"NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,RCV000116457.2,,0.1329,0.1484,0.1998,0.24,0.30,0.21,,,0.000(P),,0.0000(T),.,2.020365,4.16,0.119,0.329000,0.144000,1.074000,0.994000,0.999000,1.000000,0.3655
synonymous_variant,ATP8A2,SILENT,NM_016529.4:p.Ala302Ala/c.906G>A,gcG/gcA,LOW,,0.0846645,0.006,rs9581388,,,,,,chr13,26125490,26125490,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala302Ala/c.906G>A|1188|ATP8A2|protein_coding|CODING|NM_016529.4|11|1),NHEK:H3K27me3,,,,0.1779,0.0793,0.0378,0.06,0.11,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ATP8A2,SILENT,NM_016529.4:p.Phe561Phe/c.1683C>T,ttC/ttT,LOW,,0.536342,0.1409,rs6491066,,,,,,chr13,26148966,26148966,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe561Phe/c.1683C>T|1188|ATP8A2|protein_coding|CODING|NM_016529.4|19|1),"NHEK:CTCF,HUVEC:H3K27me3,CD4:DNase1,K562:CTCF,HUVEC:CTCF,IMR90:DNase1,HSMM:CTCF,GM12878:CTCF,HSMM:DNase1,NH-A:CTCF,CD4:CTCF,GM12878:Rad21,NHEK:DNase1,H1ESC:Rad21,GM06990:CTCF",,RCV000116458.2,,0.5133,0.6095,0.7147,0.71,0.70,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ATP8A2,SILENT,NM_016529.4:p.Leu762Leu/c.2286G>C,ctG/ctC,LOW,,0.98742,1,rs6491088,,,,,,chr13,26273385,26273385,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu762Leu/c.2286G>C|1188|ATP8A2|protein_coding|CODING|NM_016529.4|25|1),NHEK:H3K27me3,,RCV000116459.2,,1,0.9957,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RNF6,SILENT,NM_005977.3:p.Cys635Cys/c.1905T>C,tgT/tgC,LOW,COSM3753634(1),0.189696,0.1141,rs301047,,,,,,chr13,26788114,26788114,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys635Cys/c.1905T>C|685|RNF6|protein_coding|CODING|NM_005977.3|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys635Cys/c.1905T>C|685|RNF6|protein_coding|CODING|NM_183043.2|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys635Cys/c.1905T>C|685|RNF6|protein_coding|CODING|NM_183044.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2117,0.0951,0.164,0.21,0.28,0.18,,,,,,,,,,,,,,,,
synonymous_variant,WASF3,SILENT,NM_006646.5:p.His226His/c.678T>C,caT/caC,LOW,COSM3753635(1),0.326478,0.1081,rs3764108,,,,,,chr13,27250823,27250823,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His226His/c.678T>C|502|WASF3|protein_coding|CODING|NM_006646.5|7|1),intron_variant(MODIFIER|||c.541-3349T>C|499|WASF3|protein_coding|CODING|NM_001291965.1|6|1)","GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4162,0.2666,0.3161,0.36,0.45,0.32,,,,,,,,,,,,,,,,
synonymous_variant,MTIF3,SILENT,NM_001166261.1:p.Asp266Asp/c.798C>T,gaC/gaT,LOW,,0.116813,0.1488,rs7669,,,,,,chr13,28009851,28009851,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp266Asp/c.798C>T|278|MTIF3|protein_coding|CODING|NM_001166261.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp266Asp/c.798C>T|278|MTIF3|protein_coding|CODING|NM_001166262.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp266Asp/c.798C>T|278|MTIF3|protein_coding|CODING|NM_001166263.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp266Asp/c.798C>T|278|MTIF3|protein_coding|CODING|NM_152912.4|5|1),downstream_gene_variant(MODIFIER||5||365|GTF3A|protein_coding|CODING|NM_002097.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0941,0.0922,0.1938,0.15,0.09,0.18,,,,,,,,,,,,,,,,
missense_variant,MTIF3,MISSENSE,NM_001166261.1:p.Phe243Leu/c.729C>G,ttC/ttG,MODERATE,,0.816893,0.5794,rs1218825,1(T),0.0(B),-1.7(N),-0.9614(T),,chr13,28009920,28009920,G,C,hom,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe243Leu/c.729C>G|278|MTIF3|protein_coding|CODING|NM_001166261.1|5|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe243Leu/c.729C>G|278|MTIF3|protein_coding|CODING|NM_001166262.1|5|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe243Leu/c.729C>G|278|MTIF3|protein_coding|CODING|NM_001166263.1|6|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe243Leu/c.729C>G|278|MTIF3|protein_coding|CODING|NM_152912.4|5|1),downstream_gene_variant(MODIFIER||74||365|GTF3A|protein_coding|CODING|NM_002097.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9223,0.683,0.9483,0.94,0.91,0.96,,0.012111(N),1.000(P),"1.77,1.77,1.77,1.77(T,T,T,T)",0.0000(T),0.032,-1.078298,5.66,3.0,-3.075000,-0.114000,0.457000,0.003000,0.012000,0.987000,10.0754
missense_variant,LNX2,MISSENSE,NM_153371.3:p.Ser198Pro/c.592T>C,Tcc/Ccc,MODERATE,COSM4152735(1),0.529752,0.4613,rs8002697,0.53(T),0.0(B),-1.425(N),-1.0651(T),,chr13,28143229,28143229,A,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser198Pro/c.592T>C|690|LNX2|protein_coding|CODING|NM_153371.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4622,0.3818,0.5736,0.59,0.67,0.55,,0.000061(N),1.000(P),3.36(T),0.0000(T),0.01,-0.495664,5.74,3.03,-1.951000,0.141000,1.916000,0.001000,0.004000,1.000000,10.5605
missense_variant,CDX2,MISSENSE,NM_001265.4:p.Pro293Ser/c.877C>T,Cct/Tct,MODERATE,COSM3765687(1),0.725639,0.8155,rs1805107,0.35(T),0.08(B),0.805(L),-0.9290(T),,chr13,28537317,28537317,G,A,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro293Ser/c.877C>T|313|CDX2|protein_coding|CODING|NM_001265.4|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8998,0.7305,0.8151,0.71,0.50,0.81,,0.061365(N),0.992(P),-2.69(D),0.0000(T),0.214,2.653742,5.07,2.32,-0.165000,0.160000,1.340000,0.895000,0.997000,0.071000,2.2766
missense_variant,URAD,MISSENSE,NM_001105577.1:p.Arg114Ser/c.340C>A,Cgc/Agc,MODERATE,COSM4147676(1),0.177516,0.1726,rs9579139,0(D),0.69(P),2.73(M),-1.0126(T),,chr13,28552425,28552425,G,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg114Ser/c.340C>A|173|URAD|protein_coding|CODING|NM_001105577.1|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1452,0.3357,0.3101,0.17,0.04,0.23,,0.000000(D),0.014(P),0.67(T),0.0000(T),0.185,4.960372,4.73,4.73,0.655000,2.170000,3.760000,0.994000,1.000000,1.000000,10.4508
missense_variant,URAD,MISSENSE,NM_001105577.1:p.Gln57Pro/c.170A>C,cAg/cCg,MODERATE,COSM147657(3),0.244609,0.1835,rs3897926,0.3(T),0.006(B),-0.09(N),-0.9240(T),,chr13,28562605,28562605,T,G,het,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln57Pro/c.170A>C|173|URAD|protein_coding|CODING|NM_001105577.1|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1697,0.3977,0.3807,0.33,0.19,0.39,,0.129613(N),1.000(P),0.95(T),0.0000(T),0.164,0.605428,5.2,-2.01,0.482000,-0.313000,-0.723000,0.713000,0.016000,0.000000,3.3162
missense_variant,FLT3,MISSENSE,NM_004119.2:p.Thr227Met/c.680C>T,aCg/aTg,MODERATE,,0.558706,0.7688,rs1933437,0.15(T),"0.879,0.743(P,P)",0.895(L),-0.9026(T),,chr13,28624294,28624294,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr227Met/c.680C>T|993|FLT3|protein_coding|CODING|NM_004119.2|6|1),"HUVEC:H3K27me3,NHEK:H3K27me3,GM12878:DNase1,GM12878:H3K4me2",,,,0.6564,0.6066,0.5805,0.52,0.34,0.61,,0.000648(D),0.509(P),"-1.23,-1.3,-1.03(T,T,T)",0.0000(T),0.334,1.941805,5.63,3.85,-0.311000,0.687000,3.696000,0.006000,0.599000,1.000000,11.1573
synonymous_variant,FLT3,SILENT,NM_004119.2:p.Asp96Asp/c.288C>T,gaC/gaT,LOW,,0.958067,0.996,rs7338903,,,,,,chr13,28636084,28636084,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp96Asp/c.288C>T|993|FLT3|protein_coding|CODING|NM_004119.2|3|1),,,,,0.9949,0.9726,0.9891,0.96,0.90,0.99,,,,,,,,,,,,,,,,
synonymous_variant,FLT1,SILENT,NM_002019.4:p.Tyr1213Tyr/c.3639C>T,taC/taT,LOW,,0.730831,1,rs7993418,,,,,,chr13,28883061,28883061,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1213Tyr/c.3639C>T|1338|FLT1|protein_coding|CODING|NM_002019.4|28|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9315,0.8285,0.7952,0.65,0.37,0.79,,,,,,,,,,,,,,,,
missense_variant,MTUS2,MISSENSE,NM_001033602.2:p.Gln952Pro/c.2855A>C,cAg/cCg,MODERATE,COSM3931812(1),0.770567,0.9097,rs386621373,,0.018(B),1.525(L),-1.0522(T),,chr13,29898768,29898768,A,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln952Pro/c.2855A>C|1379|MTUS2|protein_coding|CODING|NM_001033602.2|5|1),HeLa-S3:H3K27me3,,,,0.8814,0.8631,0.8549,0.77,0.54,0.88,,0.001247(N),0.914(P),2.43(T),0.0000(T),0.153,1.617157,4.75,3.53,0.443000,0.799000,1.890000,0.521000,0.083000,0.570000,8.2523
synonymous_variant,SLC7A1,SILENT,NM_003045.4:p.Leu502Leu/c.1506C>T,ctC/ctT,LOW,,0.911342,0.9593,rs2482089,,,,,,chr13,30091714,30091714,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu502Leu/c.1506C>T|629|SLC7A1|protein_coding|CODING|NM_003045.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9233,0.9467,0.9881,0.93,0.82,0.98,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A1,SILENT,NM_003045.4:p.Gly467Gly/c.1401C>G,ggC/ggG,LOW,,0.939896,0.9593,rs2482090,,,,,,chr13,30091819,30091819,G,C,hom,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly467Gly/c.1401C>G|629|SLC7A1|protein_coding|CODING|NM_003045.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9243,0.9496,0.9891,0.96,0.90,0.98,,,,,,,,,,,,,,,,
synonymous_variant,HMGB1,SILENT,NM_002128.4:p.Tyr155Tyr/c.465T>C,taT/taC,LOW,,0.972045,1,rs1929606,,,,,,chr13,31036681,31036681,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr155Tyr/c.465T>C|215|HMGB1|protein_coding|CODING|NM_002128.4|4|1),"H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,0.9942,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
missense_variant,USPL1,MISSENSE,NM_005800.4:p.Leu531Ser/c.1592T>C,tTa/tCa,MODERATE,COSM3999062(1),0.478634,0.1796,rs7984952,0.68(T),0.0(B),-0.345(N),-1.0444(T),,chr13,31231806,31231806,T,C,het,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu531Ser/c.1592T>C|1092|USPL1|protein_coding|CODING|NM_005800.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4642,0.389,0.4016,0.53,0.77,0.41,,0.880541(N),1.000(P),3.15(T),0.0000(T),0.027,1.475572,5.54,3.46,-0.119000,0.715000,0.369000,0.003000,0.001000,0.000000,8.089
missense_variant,USPL1,MISSENSE,NM_005800.4:p.Ser950Asn/c.2849G>A,aGt/aAt,MODERATE,COSM4147681(1),0.474641,0.1786,rs3742302,0.57(T),0.0(B),-1.59(N),-1.0036(T),,chr13,31233063,31233063,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser950Asn/c.2849G>A|1092|USPL1|protein_coding|CODING|NM_005800.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.454,0.3876,0.4006,0.53,0.77,0.41,,0.816635(N),1.000(P),2.6(T),0.0000(T),0.003,-2.731200,5.75,3.31,-2.276000,-0.104000,-1.530000,0.000000,0.000000,0.000000,12.7153
missense_variant,MEDAG,MISSENSE,NM_032849.3:p.Arg23His/c.68G>A,cGc/cAc,MODERATE,COSM432293(9),0.048123,0.002,rs71436423,0.06(T),0.991(D),0.695(N),-1.0246(T),,chr13,31480720,31480720,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg23His/c.68G>A|303|MEDAG|protein_coding|CODING|NM_032849.3|1|1),intron_variant(MODIFIER|||n.1438-22523C>T||TEX26-AS1||NON_CODING|NR_038287.1|2|1)","HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HUVEC:H3K27ac",,,,0.0266,0.0663,0.1262,0.09,0.03,0.12,,0.021342(N),0.100(P),0.75(T),0.0037(T),0.166,4.606995,4.9,4.9,0.655000,2.272000,3.137000,0.995000,1.000000,1.000000,14.971
missense_variant,MEDAG,MISSENSE,NM_032849.3:p.Arg59Gly/c.175A>G,Agg/Ggg,MODERATE,COSM4147683(3),0.976438,1,rs9531945,1(T),0.0(B),-0.55(N),-0.9441(T),,chr13,31480827,31480827,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg59Gly/c.175A>G|303|MEDAG|protein_coding|CODING|NM_032849.3|1|1),intron_variant(MODIFIER|||n.1438-22630T>C||TEX26-AS1||NON_CODING|NR_038287.1|2|1)","HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HUVEC:H3K27ac",,,,1,0.9957,1,0.98,0.94,1.00,,0.007559(N),1.000(P),1.04(T),0.0000(T),0.125,-2.044123,4.92,3.15,-1.032000,0.132000,2.086000,0.005000,0.001000,0.386000,6.5331
splice_acceptor_variant,TEX26,protein_coding,NM_152325.1:c.313G>A,,HIGH,COSM3753638(2),0.254792,0.2946,rs12857479,,,,,TEX26:1.00(1);,chr13,31531009,31531009,G,A,het,"splice_acceptor_variant(HIGH|||c.313G>A|289|TEX26|protein_coding|CODING|NM_152325.1|4|1),intron_variant(MODIFIER|||c.313-1G>A|289|TEX26|protein_coding|CODING|NM_152325.1|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3415,0.3141,0.3628,0.28,0.10,0.37,,,0.000(P),,,.,1.198433,4.71,4.71,0.591000,2.145000,2.665000,0.014000,0.073000,0.910000,13.1627
synonymous_variant,TEX26,SILENT,NM_152325.1:p.Tyr240Tyr/c.720C>T,taC/taT,LOW,COSM3765690(1),0.192692,0.126,rs2274869,,,,,,chr13,31543095,31543095,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr240Tyr/c.720C>T|289|TEX26|protein_coding|CODING|NM_152325.1|6|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.2822,0.317,0.2445,0.21,0.10,0.26,,,,,,,,,,,,,,,,
missense_variant,B3GALTL,MISSENSE,NM_194318.3:p.Glu370Lys/c.1108G>A,Gag/Aag,MODERATE,,0.666733,0.7798,rs1041073,0.28(T),0.472(P),0.82(L),-0.9131(T),,chr13,31891746,31891746,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu370Lys/c.1108G>A|498|B3GALTL|protein_coding|CODING|NM_194318.3|13|1),"HUVEC:H3K36me3,CD4:H3K36me3",,RCV000082784.1,,0.7699,0.7579,0.7575,0.66,0.42,0.78,,0.000047(N),0.001(P),-1.92(D),0.0000(T),0.174,3.616191,4.93,3.21,0.650000,0.602000,5.974000,0.489000,0.002000,1.000000,7.087
synonymous_variant,RXFP2,SILENT,NM_130806.3:p.Glu319Glu/c.957A>G,gaA/gaG,LOW,,0.633786,0.7758,rs7325513,,,,,,chr13,32360547,32360547,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu295Glu/c.885A>G|730|RXFP2|protein_coding|CODING|NM_001166058.1|11|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu319Glu/c.957A>G|754|RXFP2|protein_coding|CODING|NM_130806.3|12|1)",HUVEC:H3K27me3,,,,0.6851,0.5072,0.5676,0.61,0.62,0.60,,,,,,,,,,,,,,,,
synonymous_variant,RXFP2,SILENT,NM_130806.3:p.Leu331Leu/c.993A>G,ctA/ctG,LOW,COSM3999064(2),0.135383,0.1905,rs386437133,,,,,,chr13,32360583,32360583,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu307Leu/c.921A>G|730|RXFP2|protein_coding|CODING|NM_001166058.1|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu331Leu/c.993A>G|754|RXFP2|protein_coding|CODING|NM_130806.3|12|1)",HUVEC:H3K27me3,,,,0.1043,0.1657,0.1551,0.14,0.13,0.14,,,,,,,,,,,,,,,,
missense_variant,RXFP2,MISSENSE,NM_130806.3:p.Ile604Val/c.1810A>G,Atc/Gtc,MODERATE,COSM3999065(2),0.139776,0.1905,rs17076657,0.75(T),"0.009,0.02(B,B)",0.75(N),-1.0098(T),,chr13,32371361,32371361,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile580Val/c.1738A>G|730|RXFP2|protein_coding|CODING|NM_001166058.1|16|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile604Val/c.1810A>G|754|RXFP2|protein_coding|CODING|NM_130806.3|17|1)","NHEK:CTCF,HUVEC:CTCF,HSMM:CTCF,HeLa-S3:CTCF,HSMM:DNase1,HMEC:CTCF,NH-A:CTCF,HepG2:CTCF,H1ESC:Rad21",,,,0.1043,0.1657,0.1551,0.15,0.15,0.14,,0.002114(N),0.417(P),"1.19,1.19(T,T)",0.0001(T),0.097,1.408258,5.65,1.75,0.528000,0.439000,1.108000,0.999000,1.000000,1.000000,6.4112
synonymous_variant,FRY,SILENT,NM_023037.2:p.Thr95Thr/c.285A>G,acA/acG,LOW,COSM3753642(2),0.58147,0.4167,rs364995,,,,,,chr13,32676114,32676114,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr95Thr/c.285A>G|3013|FRY|protein_coding|CODING|NM_023037.2|3|1),"HSMM:H3K36me3,HepG2:H3K36me3",,,,0.6667,0.5403,0.66,0.62,0.59,0.64,,,,,,,,,,,,,,,,
missense_variant,FRY,MISSENSE,NM_023037.2:p.His1199Tyr/c.3595C>T,Cat/Tat,MODERATE,,,,,0.38(T),0.993(D),1.05(L),-0.6318(T),,chr13,32768283,32768283,C,T,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His1199Tyr/c.3595C>T|3013|FRY|protein_coding|CODING|NM_023037.2|29|1),IMR90:H3K36me3,,,,,,,,,,,0.000000(D),1.000(D),-0.11(T),0.3263(T),0.831,3.445570,5.46,5.46,0.563000,2.715000,7.649000,0.988000,1.000000,1.000000,19.6764
missense_variant,ZAR1L,MISSENSE,NM_001136571.1:p.Thr137Ala/c.409A>G,Acc/Gcc,MODERATE,COSM1583002(11),0.391973,0.4851,rs445909,0.95(T),0.005(B),-0.395(N),-0.9634(T),,chr13,32885654,32885654,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr137Ala/c.409A>G|321|ZAR1L|protein_coding|CODING|NM_001136571.1|1|1),,,,,0.3569,0.4135,0.3976,,,,,0.124375(N),1.000(P),,0.0000(T),0.064,-0.772802,4.0,-6.3,-0.513000,-0.840000,-0.670000,0.000000,0.000000,0.000000,7.7924
synonymous_variant,ZAR1L,SILENT,NM_001136571.1:p.Pro135Pro/c.405C>T,ccC/ccT,LOW,COSM3749245(8),0.160343,0.1528,rs371193,,,,,,chr13,32885658,32885658,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro135Pro/c.405C>T|321|ZAR1L|protein_coding|CODING|NM_001136571.1|1|1),,,,,0.1227,0.1412,0.1938,,,,,,,,,,,,,,,,,,,
synonymous_variant,BRCA2,SILENT,NM_000059.3:p.Lys1132Lys/c.3396A>G,aaA/aaG,LOW,,0.266773,0.3681,rs1801406,,,,,,chr13,32911888,32911888,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1132Lys/c.3396A>G|3418|BRCA2|protein_coding|CODING|NM_000059.3|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,"RCV000113169.1,RCV000113170.2|RCV000114982.1|RCV000123961.1|RCV000130987.1",,0.2515,0.2378,0.2753,0.28,0.23,0.31,,,,,,,,,,,,,,,,
synonymous_variant,BRCA2,SILENT,NM_000059.3:p.Val1269Val/c.3807T>C,gtT/gtC,LOW,,0.168131,0.1726,rs543304,,,,,,chr13,32912299,32912299,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val1269Val/c.3807T>C|3418|BRCA2|protein_coding|CODING|NM_000059.3|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,"RCV000113220.2|RCV000123965.1|RCV000130362.1,RCV000113221.1",,0.1196,0.1527,0.1998,0.19,0.20,0.19,,,,,,,,,,,,,,,,
synonymous_variant,BRCA2,SILENT,NM_000059.3:p.Leu1521Leu/c.4563A>G,ctA/ctG,LOW,,0.974042,1,rs206075,,,,,,chr13,32913055,32913055,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1521Leu/c.4563A>G|3418|BRCA2|protein_coding|CODING|NM_000059.3|11|1),"H1ESC:H3K36me3,HepG2:H3K36me3",,,,1,0.9971,0.999,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,BRCA2,SILENT,NM_000059.3:p.Val2171Val/c.6513G>C,gtG/gtC,LOW,COSM4147690(1),0.973642,1,rs206076,,,,,,chr13,32915005,32915005,G,C,hom,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val2171Val/c.6513G>C|3418|BRCA2|protein_coding|CODING|NM_000059.3|11|1),H1ESC:H3K36me3,,,,1,0.9971,0.999,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,BRCA2,MISSENSE,NM_000059.3:p.Val2466Ala/c.7397T>C,gTa/gCa,MODERATE,,0.975839,1,rs169547,1(T),,,-0.9296(T),,chr13,32929387,32929387,T,C,hom,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val2466Ala/c.7397T>C|3418|BRCA2|protein_coding|CODING|NM_000059.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,"RCV000045197.2|RCV000113751.1|RCV000123993.1,RCV000120357.1",,1,0.9971,0.999,0.98,0.94,1.00,,0.193508(N),1.000(P),"5.95,5.95(T,T)",0.0000(T),0.128,-0.279488,5.07,5.07,-0.226000,1.274000,2.353000,0.129000,0.002000,0.027000,12.0918
synonymous_variant,KL,SILENT,NM_004795.3:p.Asp91Asp/c.273T>C,gaT/gaC,LOW,COSM3753651(3),0.944089,1,rs2772364,,,,,,chr13,33590851,33590851,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp91Asp/c.273T>C|1012|KL|protein_coding|CODING|NM_004795.3|1|1),"HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,1,0.9827,0.999,0.95,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KL,SILENT,NM_004795.3:p.Ala749Ala/c.2247T>C,gcT/gcC,LOW,,0.710863,0.6071,rs648202,,,,,,chr13,33635463,33635463,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala749Ala/c.2247T>C|1012|KL|protein_coding|CODING|NM_004795.3|4|1),K562:H3K27me3,,,,0.7945,0.8285,0.8787,0.77,0.58,0.87,,,,,,,,,,,,,,,,
synonymous_variant,KL,SILENT,NM_004795.3:p.Asn873Asn/c.2619T>C,aaT/aaC,LOW,,0.976238,0.999,rs649964,,,,,,chr13,33635835,33635835,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn873Asn/c.2619T>C|1012|KL|protein_coding|CODING|NM_004795.3|4|1),,,,,1,0.9942,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,STARD13,SILENT,NM_178006.3:p.Glu386Glu/c.1158A>G,gaA/gaG,LOW,,0.515575,0.5407,rs495680,,,,,,chr13,33703656,33703656,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu378Glu/c.1134A>G|687|STARD13|protein_coding|CODING|NM_001243466.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu268Glu/c.804A>G|646|STARD13|protein_coding|CODING|NM_001243474.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu351Glu/c.1053A>G|1078|STARD13|protein_coding|CODING|NM_001243476.2|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu268Glu/c.804A>G|995|STARD13|protein_coding|CODING|NM_052851.2|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu386Glu/c.1158A>G|1113|STARD13|protein_coding|CODING|NM_178006.3|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu378Glu/c.1134A>G|1105|STARD13|protein_coding|CODING|NM_178007.2|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.621,0.6103,0.54,0.38,0.63,,,,,,,,,,,,,,,,
missense_variant,STARD13,MISSENSE,NM_001243476.2:p.Asn15Lys/c.45C>G,aaC/aaG,MODERATE,,0.51877,0.4692,rs876133,,,,,,chr13,34013847,34013847,G,C,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn15Lys/c.45C>G|1078|STARD13|protein_coding|CODING|NM_001243476.2|5|1),HepG2:H3K36me3,,,,0.407,0.4438,0.4354,,,,,,,,,,,,,,,,,,,
synonymous_variant,RFC3,SILENT,NM_002915.3:p.Asp250Asp/c.750T>C,gaT/gaC,LOW,,,,,,,,,,chr13,34405432,34405432,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp250Asp/c.750T>C|356|RFC3|protein_coding|CODING|NM_002915.3|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp250Asp/c.750T>C|305|RFC3|protein_coding|CODING|NM_181558.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MAB21L1,MISSENSE,NM_005584.4:p.Met274Val/c.820A>G,Atg/Gtg,MODERATE,,0.000798722,0,rs45612732,0.16(T),0.006(B),1.3(L),-1.0720(T),,chr13,36049456,36049456,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met274Val/c.820A>G|359|MAB21L1|protein_coding|CODING|NM_005584.4|1|1),upstream_gene_variant(MODIFIER||1430||739|NBEA|protein_coding|CODING|NM_001204197.1||1),intron_variant(MODIFIER|||c.6585+2783T>C|2946|NBEA|protein_coding|CODING|NM_015678.4|41|1),intron_variant(MODIFIER|||n.55-1032A>G||MIR548F5||NON_CODING|NR_031646.1|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,NH-A:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.002,0,0.002,0.00,0.00,0.00,,0.000000(D),1.000(D),3.17(T),0.0244(T),0.899,1.802629,5.76,5.76,0.533000,2.209000,8.040000,0.748000,1.000000,1.000000,16.0659
synonymous_variant,DCLK1,SILENT,NM_004734.4:p.Pro543Pro/c.1629C>A,ccC/ccA,LOW,COSM3753662(2),0.297923,0.2778,rs2322807,,,,,,chr13,36385031,36385031,G,T,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro236Pro/c.708C>A|422|DCLK1|protein_coding|CODING|NM_001195415.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro236Pro/c.708C>A|433|DCLK1|protein_coding|CODING|NM_001195416.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro543Pro/c.1629C>A|729|DCLK1|protein_coding|CODING|NM_004734.4|12|1),intron_variant(MODIFIER|||n.26-68294C>A||MIR548F5||NON_CODING|NR_031646.1|1|1)",H1ESC:H3K36me3,,,,0.2515,0.2421,0.2296,0.29,0.42,0.21,,,,,,,,,,,,,,,,
synonymous_variant,DCLK1,SILENT,NM_004734.4:p.Tyr416Tyr/c.1248T>C,taT/taC,LOW,COSM3999075(1),0.332268,0.2867,rs2296645,,,,,,chr13,36402426,36402426,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr109Tyr/c.327T>C|422|DCLK1|protein_coding|CODING|NM_001195415.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr109Tyr/c.327T>C|433|DCLK1|protein_coding|CODING|NM_001195416.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr416Tyr/c.1248T>C|729|DCLK1|protein_coding|CODING|NM_004734.4|9|1),intron_variant(MODIFIER|||n.26-85689T>C||MIR548F5||NON_CODING|NR_031646.1|1|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.4775,0.3934,0.504,0.36,0.14,0.48,,,,,,,,,,,,,,,,
synonymous_variant,EXOSC8,SILENT,NM_181503.2:p.Gln107Gln/c.321G>A,caG/caA,LOW,COSM4147701(1),0.413538,0.7232,rs1127446,,,,,,chr13,37580139,37580139,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln107Gln/c.321G>A|276|EXOSC8|protein_coding|CODING|NM_181503.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.4236,0.3797,0.31,0.14,0.40,,,,,,,,,,,,,,,,
missense_variant,SUPT20H,MISSENSE,NM_001014286.2:p.Thr773Met/c.2318C>T,aCg/aTg,MODERATE,COSM3753673(1),0.413139,0.7232,rs9469,,,0.665(N),-1.0033(T),,chr13,37583831,37583831,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr773Met/c.2318C>T|779|SUPT20H|protein_coding|CODING|NM_001014286.2|26|1),3_prime_UTR_variant(MODIFIER||15|c.*15C>T|811|SUPT20H|protein_coding|CODING|NM_001278480.1|25|1),3_prime_UTR_variant(MODIFIER||15|c.*15C>T|733|SUPT20H|protein_coding|CODING|NM_001278481.1|25|1),3_prime_UTR_variant(MODIFIER||15|c.*15C>T|733|SUPT20H|protein_coding|CODING|NM_001278482.1|25|1),3_prime_UTR_variant(MODIFIER||15|c.*15C>T|733|SUPT20H|protein_coding|CODING|NM_017569.3|25|1),downstream_gene_variant(MODIFIER||80||276|EXOSC8|protein_coding|CODING|NM_181503.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.4222,0.3787,0.31,0.14,0.40,,,0.000(P),,0.0000(T),.,0.874397,5.92,4.18,-0.373000,0.832000,3.130000,0.857000,0.874000,1.000000,10.3486
missense_variant,CSNK1A1L,MISSENSE,NM_145203.5:p.Asp42Glu/c.126C>A,gaC/gaA,MODERATE,COSM1128380(3),0.596845,0.8135,rs9576175,1(T),0.003(B),-1.71(N),-1.0141(T),,chr13,37679268,37679268,G,T,het,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp42Glu/c.126C>A|337|CSNK1A1L|protein_coding|CODING|NM_145203.5|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5501,0.5735,0.494,0.51,0.54,0.50,,0.000001(N),1.000(P),2.25(T),0.0000(T),0.018,-2.283595,0.778,0.778,-0.363000,-0.206000,0.197000,0.232000,0.305000,0.997000,4.8674
synonymous_variant,UFM1,SILENT,NM_001286704.1:p.Ala4Ala/c.12T>C,gcT/gcC,LOW,,0.864217,0.9911,rs2231332,,,,,,chr13,38924263,38924263,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala4Ala/c.12T>C|103|UFM1|protein_coding|CODING|NM_001286704.1|2|1),intron_variant(MODIFIER|||c.59+71T>C|71|UFM1|protein_coding|CODING|NM_001286705.1|2|1),intron_variant(MODIFIER|||c.59+71T>C|71|UFM1|protein_coding|CODING|NM_001286706.1|2|1),intron_variant(MODIFIER|||c.59+71T>C|85|UFM1|protein_coding|CODING|NM_016617.3|2|1),intron_variant(MODIFIER|||n.208+71T>C||UFM1||CODING|NR_104584.1|2|1),intron_variant(MODIFIER|||n.208+71T>C||UFM1||CODING|NR_104585.1|2|1),intron_variant(MODIFIER|||c.59+71T>C|83|UFM1|protein_coding|CODING|NM_001286703.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,CD4:H2AK9ac,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,IMR90:H3K18ac,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,CD4:H2BK12ac,GM12878:H2AZ",,,,0.9581,0.9568,0.9771,0.86,0.61,0.97,,,,,,,,,,,,,,,,
synonymous_variant,FREM2,SILENT,NM_207361.5:p.Glu192Glu/c.576G>A,gaG/gaA,LOW,COSM4147704(1),1,1,rs1868464,,,,,,chr13,39262057,39262057,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu192Glu/c.576G>A|3169|FREM2|protein_coding|CODING|NM_207361.5|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,HMEC:H3K4me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,FREM2,MISSENSE,NM_207361.5:p.Ser745Pro/c.2233T>C,Tcc/Ccc,MODERATE,,1,1,rs2496423,1(T),0.0(B),-1.905(N),-0.9408(T),,chr13,39263714,39263714,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser745Pro/c.2233T>C|3169|FREM2|protein_coding|CODING|NM_207361.5|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),1.000(P),0.45(T),0.0000(T),0.06,-0.247142,5.8,4.94,-0.119000,0.785000,3.168000,0.987000,0.998000,1.000000,11.8135
missense_variant,FREM2,MISSENSE,NM_207361.5:p.Phe1070Ser/c.3209T>C,tTt/tCt,MODERATE,COSM1366801(2),0.48123,0.4177,rs2496425,0.64(T),0.0(B),0.675(N),-1.0062(T),,chr13,39264690,39264690,T,C,het,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe1070Ser/c.3209T>C|3169|FREM2|protein_coding|CODING|NM_207361.5|1|1),"H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.3119,0.4496,0.2624,0.44,0.75,0.27,,0.000966(N),1.000(P),1.09(T),0.0000(T),0.036,-1.615018,6.07,6.07,-0.128000,1.598000,0.928000,0.624000,0.989000,0.000000,10.1398
missense_variant,FREM2,MISSENSE,NM_207361.5:p.Thr2326Ile/c.6977C>T,aCc/aTc,MODERATE,COSM432379(1),0.771965,0.9712,rs9548509,0.39(T),"0.0,0.0(B,B)",-1.33(N),-0.9646(T),,chr13,39430314,39430314,C,T,hom,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr2326Ile/c.6977C>T|3169|FREM2|protein_coding|CODING|NM_207361.5|12|1),,,,,0.7014,0.7911,0.6889,0.72,0.76,0.70,,0.000976(N),1.000(P),1.78(T),0.0000(T),0.044,1.263681,5.66,5.66,-0.361000,0.979000,6.137000,0.198000,0.003000,0.969000,11.7377
missense_variant,PROSER1,MISSENSE,NM_025138.4:p.Leu660Phe/c.1980G>T,ttG/ttT,MODERATE,,0.00139776,0,rs138493654,,"0.997,0.997(D,D)",1.04(L),-0.4594(T),,chr13,39587409,39587409,C,A,het,missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu660Phe/c.1980G>T|944|PROSER1|protein_coding|CODING|NM_025138.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0029,0.001,0.00,0.00,0.00,,,0.763(D),"-0.48,-0.48(T,T)",0.2771(T),0.703,2.067878,5.27,-0.468,0.561000,-0.105000,-0.917000,0.583000,0.024000,0.018000,11.529
synonymous_variant,PROSER1,SILENT,NM_025138.4:p.Ser186Ser/c.558C>T,tcC/tcT,LOW,COSM3753686(1),0.0623003,0.001,rs386497006,,,,,,chr13,39598616,39598616,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser186Ser/c.558C>T|944|PROSER1|protein_coding|CODING|NM_025138.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.2089,0.1064,0.09,0.03,0.13,,,,,,,,,,,,,,,,
missense_variant,COG6,MISSENSE,NM_020751.2:p.Ala10Thr/c.28G>A,Gca/Aca,MODERATE,COSM3753688(2),0.484425,0.4573,rs3812882,0.37(T),"0.001,0.001(B,B)",1.355(L),-0.9376(T),,chr13,40229891,40229891,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala10Thr/c.28G>A|615|COG6|protein_coding|CODING|NM_001145079.1|1|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala10Thr/c.28G>A|657|COG6|protein_coding|CODING|NM_020751.2|1|1),non_coding_exon_variant(MODIFIER|||n.128G>A||COG6||CODING|NR_026745.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,CD4:H3K79me3,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.5266,0.5879,0.3777,0.44,0.49,0.41,,0.565084(N),1.000(P),"1.16,1.17,1.18(T,T,T)",0.0000(T),0.13,4.802264,5.52,2.68,0.561000,0.621000,-0.010000,0.521000,0.003000,0.000000,4.4269
missense_variant,COG6,MISSENSE,NM_020751.2:p.Cys32Ser/c.94T>A,Tgc/Agc,MODERATE,COSM3753690(3),0.484225,0.4573,rs3812883,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9229(T),,chr13,40229957,40229957,T,A,het,"missense_variant(MODERATE|MISSENSE|Tgc/Agc|p.Cys32Ser/c.94T>A|615|COG6|protein_coding|CODING|NM_001145079.1|1|1),missense_variant(MODERATE|MISSENSE|Tgc/Agc|p.Cys32Ser/c.94T>A|657|COG6|protein_coding|CODING|NM_020751.2|1|1),non_coding_exon_variant(MODIFIER|||n.194T>A||COG6||CODING|NR_026745.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.5256,0.5879,0.3767,0.42,0.47,0.39,,0.173170(N),1.000(P),"1.45,1.71,1.46(T,T,T)",0.0000(T),0.247,0.235062,5.41,3.0,-0.364000,0.056000,2.549000,0.004000,0.016000,0.980000,2.2529
missense_variant,SLC25A15,MISSENSE,NM_014252.3:p.Ile254Leu/c.760A>T,Ata/Tta,MODERATE,COSM3753692(1),0.322684,0.377,rs17849654,,"0.003,0.001(B,B)",-0.22(N),-0.9547(T),,chr13,41382711,41382711,A,T,hom,"missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile254Leu/c.760A>T|301|SLC25A15|protein_coding|CODING|NM_014252.3|6|1),intron_variant(MODIFIER|||n.623-7851T>A||TPTE2P5||NON_CODING|NR_038258.1|7|1),intron_variant(MODIFIER|||n.452-7851T>A||TPTE2P5||NON_CODING|NR_038259.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.274,0.4078,0.4523,0.34,0.20,0.41,,0.116490(N),1.000(P),-1.17(T),0.0000(T),0.076,-1.776196,5.19,0.251,0.455000,-0.220000,1.349000,0.103000,0.003000,0.032000,5.9754
missense_variant,ELF1,MISSENSE,NM_172373.3:p.Thr343Ser/c.1027A>T,Aca/Tca,MODERATE,COSM1366878(2),0.413538,0.1538,rs1056820,0.84(T),"0.011,0.016(B,B)",1.1(L),-0.9512(T),,chr13,41515286,41515286,T,A,hom,"missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr319Ser/c.955A>T|595|ELF1|protein_coding|CODING|NM_001145353.1|7|1),missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr343Ser/c.1027A>T|619|ELF1|protein_coding|CODING|NM_172373.3|8|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5511,0.6657,0.7097,0.52,0.22,0.68,,0.186597(N),0.161(P),"0.61,0.61(T,T)",0.0000(T),0.022,1.382206,5.47,4.3,0.533000,1.026000,0.626000,0.999000,1.000000,1.000000,5.6684
synonymous_variant,ELF1,SILENT,NM_172373.3:p.Asp202Asp/c.606T>C,gaT/gaC,LOW,,0.413538,0.1538,rs3764056,,,,,,chr13,41517985,41517985,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp178Asp/c.534T>C|595|ELF1|protein_coding|CODING|NM_001145353.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp202Asp/c.606T>C|619|ELF1|protein_coding|CODING|NM_172373.3|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5511,0.6657,0.7097,0.52,0.22,0.68,,,,,,,,,,,,,,,,
missense_variant,ELF1,MISSENSE,NM_172373.3:p.Asn58Ser/c.173A>G,aAt/aGt,MODERATE,COSM1366882(1),0.430511,0.1746,rs7799,0.23(T),"0.019,0.026(B,B)",0.75(N),-0.9962(T),,chr13,41533052,41533052,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn58Ser/c.173A>G|595|ELF1|protein_coding|CODING|NM_001145353.1|2|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn58Ser/c.173A>G|619|ELF1|protein_coding|CODING|NM_172373.3|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5583,0.67,0.7147,0.54,0.26,0.69,,0.002875(N),0.794(P),"0.87,0.87(T,T)",0.0000(T),0.005,2.299755,5.87,0.352,0.533000,0.148000,0.041000,0.998000,0.999000,0.992000,9.5909
synonymous_variant,KBTBD6,SILENT,NM_152903.4:p.Leu385Leu/c.1153T>C,Tta/Cta,LOW,,0.961861,0.9841,rs386600116,,,,,,chr13,41705495,41705495,A,G,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu385Leu/c.1153T>C|674|KBTBD6|protein_coding|CODING|NM_152903.4|1|1),upstream_gene_variant(MODIFIER||1569|||LOC101929140||NON_CODING|NR_120423.1||1)","CD4:H3K9me1,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K4me2,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,K562:DNase1",,,,0.9775,0.9928,0.999,0.96,0.89,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KBTBD7,SILENT,NM_032138.4:p.Pro352Pro/c.1056T>C,ccT/ccC,LOW,COSM1366901(2),0.508786,0.3502,rs2039134,,,,,,chr13,41767338,41767338,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro352Pro/c.1056T>C|684|KBTBD7|protein_coding|CODING|NM_032138.4|1|1),intron_variant(MODIFIER|||n.350+30799A>G||LOC101929140||NON_CODING|NR_120423.1|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3",,,,0.6708,0.8156,0.832,0.63,0.20,0.84,,,,,,,,,,,,,,,,
synonymous_variant,KBTBD7,SILENT,NM_032138.4:p.His351His/c.1053T>C,caT/caC,LOW,COSM3999086(1),0.508786,0.3502,rs2039135,,,,,,chr13,41767341,41767341,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His351His/c.1053T>C|684|KBTBD7|protein_coding|CODING|NM_032138.4|1|1),intron_variant(MODIFIER|||n.350+30802A>G||LOC101929140||NON_CODING|NR_120423.1|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM06990:H3K36me3",,,,0.6708,0.8156,0.832,0.62,0.20,0.84,,,,,,,,,,,,,,,,
synonymous_variant,MTRF1,SILENT,NM_004294.2:p.Glu100Glu/c.300G>A,gaG/gaA,LOW,,0.673123,0.5496,rs2297555,,,,,,chr13,41834744,41834744,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu100Glu/c.300G>A|445|MTRF1|protein_coding|CODING|NM_004294.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6708,0.7334,0.7117,0.72,0.73,0.71,,,,,,,,,,,,,,,,
synonymous_variant,NAA16,SILENT,NM_024561.4:p.Asn257Asn/c.771T>C,aaT/aaC,LOW,COSM3765700(1),0.964657,0.9712,rs3812896,,,,,,chr13,41902939,41902939,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn257Asn/c.771T>C|429|NAA16|protein_coding|CODING|NM_001110798.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn257Asn/c.771T>C|311|NAA16|protein_coding|CODING|NM_018527.3|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn257Asn/c.771T>C|864|NAA16|protein_coding|CODING|NM_024561.4|7|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9877,0.9683,0.9076,0.94,0.98,0.92,,,,,,,,,,,,,,,,
missense_variant,VWA8,MISSENSE,NM_015058.1:p.Met383Thr/c.1148T>C,aTg/aCg,MODERATE,,0.222244,0.1895,rs3742262,0.58(T),0.0(B),-1.245(N),-0.9104(T),,chr13,42442546,42442546,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met383Thr/c.1148T>C|1039|VWA8|protein_coding|CODING|NM_001009814.1|10|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met383Thr/c.1148T>C|1905|VWA8|protein_coding|CODING|NM_015058.1|10|1)","HMEC:H3K36me3,HepG2:H3K36me3",,,,0.32,0.3026,0.3231,0.24,0.09,0.32,,0.856935(N),1.000(P),"3.09,2.9(T,T)",0.0000(T),0.024,-2.267391,4.63,0.953,-0.147000,0.025000,0.140000,0.022000,0.000000,0.000000,5.1762
missense_variant,VWA8,MISSENSE,NM_015058.1:p.Arg165His/c.494G>A,cGt/cAt,MODERATE,,0.202077,0.1786,rs9562362,0(D),0.832(P),3.27(M),-1.1579(T),,chr13,42465713,42465713,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg165His/c.494G>A|1039|VWA8|protein_coding|CODING|NM_001009814.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg165His/c.494G>A|1905|VWA8|protein_coding|CODING|NM_015058.1|5|1)","GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2945,0.2954,0.3171,0.23,0.06,0.32,,0.000001(D),0.000(P),"0.29,0.29(T,T)",0.0000(T),0.492,5.662997,5.71,5.71,0.650000,2.861000,7.536000,0.999000,1.000000,1.000000,20.2245
synonymous_variant,DGKH,SILENT,NM_178009.4:p.Phe133Phe/c.399C>T,ttC/ttT,LOW,COSM3999090(1),0.0515176,0.0179,rs3208827,,,,,,chr13,42729441,42729441,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe133Phe/c.399C>T|1164|DGKH|protein_coding|CODING|NM_001204504.2|5|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe133Phe/c.399C>T|1164|DGKH|protein_coding|CODING|NM_152910.5|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe133Phe/c.399C>T|1220|DGKH|protein_coding|CODING|NM_178009.4|4|1),5_prime_UTR_variant(MODIFIER||10|c.-10C>T|1100|DGKH|protein_coding|CODING|NM_001204505.2|2|1),5_prime_UTR_variant(MODIFIER||10|c.-10C>T|1084|DGKH|protein_coding|CODING|NM_001204506.2|2|1),5_prime_UTR_variant(MODIFIER||375|c.-104C>T|919|DGKH|protein_coding|CODING|NM_001297429.1|2|1),non_coding_exon_variant(MODIFIER|||n.123C>T||DGKH||CODING|NR_123714.1|2|1),non_coding_exon_variant(MODIFIER|||n.736C>T||DGKH||CODING|NR_123715.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.0879,0.0476,0.0994,0.08,0.03,0.11,,,,,,,,,,,,,,,,
synonymous_variant,DGKH,SILENT,NM_178009.4:p.Pro646Pro/c.1938C>G,ccC/ccG,LOW,COSM1366930(2),0.173922,0.0942,rs7324235,,,,,,chr13,42764564,42764564,C,G,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro646Pro/c.1938C>G|1164|DGKH|protein_coding|CODING|NM_001204504.2|17|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro510Pro/c.1530C>G|1100|DGKH|protein_coding|CODING|NM_001204505.2|14|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro510Pro/c.1530C>G|1084|DGKH|protein_coding|CODING|NM_001204506.2|14|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro401Pro/c.1203C>G|919|DGKH|protein_coding|CODING|NM_001297429.1|12|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro646Pro/c.1938C>G|1164|DGKH|protein_coding|CODING|NM_152910.5|16|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro646Pro/c.1938C>G|1220|DGKH|protein_coding|CODING|NM_178009.4|16|1),non_coding_exon_variant(MODIFIER|||n.1662C>G||DGKH||CODING|NR_123714.1|14|1),non_coding_exon_variant(MODIFIER|||n.2275C>G||DGKH||CODING|NR_123715.1|16|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2474,0.2666,0.2624,0.21,0.10,0.27,,,,,,,,,,,,,,,,
synonymous_variant,TNFSF11,SILENT,NM_003701.3:p.Pro42Pro/c.126T>C,ccT/ccC,LOW,COSM3723911(5),0.465455,0.4444,rs2296533,,,,,,chr13,43148565,43148565,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro42Pro/c.126T>C|317|TNFSF11|protein_coding|CODING|NM_003701.3|1|1),intron_variant(MODIFIER|||c.-1+2691T>C|244|TNFSF11|protein_coding|CODING|NM_033012.3|3|1)","HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,GM12878:ZEB1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.3896,0.4164,0.4712,0.39,0.43,0.36,,,,,,,,,,,,,,,,
stop_gained,FAM216B,NONSENSE,NM_182508.2:p.Glu57*/c.169G>T,Gag/Tag,HIGH,,,,,1(T),,,,FAM216B:1.00(1);FAM216B:1.00(1);,chr13,43360968,43360968,G,T,het,stop_gained(HIGH|NONSENSE|Gag/Tag|p.Glu57*/c.169G>T|139|FAM216B|protein_coding|CODING|NM_182508.2|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,0.016520(N),1.000(D),,,.,5.190897,5.54,2.79,0.655000,0.870000,0.988000,0.997000,1.000000,1.000000,7.2687
missense_variant,EPSTI1,MISSENSE,NM_001002264.2:p.Pro338Ser/c.1012C>T,Cct/Tct,MODERATE,COSM3753700(1),0.0413339,0.002,rs11557739,0.14(T),0.488(P),,-1.0692(T),,chr13,43462607,43462607,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro338Ser/c.1012C>T|410|EPSTI1|protein_coding|CODING|NM_001002264.2|13|1),3_prime_UTR_variant(MODIFIER||23|c.*23C>T|307|EPSTI1|protein_coding|CODING|NM_033255.3|11|1)","CD4:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.0865,0.0716,0.06,0.02,0.08,,0.602392(N),1.000(P),,0.0068(T),0.086,0.368270,5.53,2.78,0.655000,0.789000,0.147000,0.008000,0.003000,0.001000,5.1008
synonymous_variant,EPSTI1,SILENT,NM_001002264.2:p.Ser312Ser/c.936C>T,agC/agT,LOW,,0.460264,0.62,rs1128105,,,,,,chr13,43469157,43469157,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser312Ser/c.936C>T|410|EPSTI1|protein_coding|CODING|NM_001002264.2|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser301Ser/c.903C>T|307|EPSTI1|protein_coding|CODING|NM_033255.3|10|1)","HeLa-S3:DNase1,GM12878:H3K36me3,HUVEC:DNase1,HSMM:DNase1,CD4:H3K36me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,GM06990:H3K36me3",,,,0.5409,0.4424,0.3151,0.35,0.38,0.33,,,,,,,,,,,,,,,,
synonymous_variant,EPSTI1,SILENT,NM_001002264.2:p.Gly294Gly/c.882C>T,ggC/ggT,LOW,,0.469848,0.62,rs1359184,,,,,,chr13,43469211,43469211,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly294Gly/c.882C>T|410|EPSTI1|protein_coding|CODING|NM_001002264.2|11|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly283Gly/c.849C>T|307|EPSTI1|protein_coding|CODING|NM_033255.3|10|1)","HeLa-S3:DNase1,GM12878:H3K36me3,HUVEC:DNase1,HSMM:DNase1,CD4:H3K36me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,GM06990:H3K36me3",,,,0.5481,0.4582,0.335,0.36,0.39,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ENOX1,SILENT,NM_001242863.1:p.Leu634Leu/c.1900C>T,Ctg/Ttg,LOW,COSM3765704(1),0.731629,0.7153,rs703207,,,,,,chr13,43788158,43788158,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu634Leu/c.1900C>T|643|ENOX1|protein_coding|CODING|NM_001242863.1|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu634Leu/c.1900C>T|643|ENOX1|protein_coding|CODING|NM_017993.3|17|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu634Leu/c.1900C>T|643|ENOX1|protein_coding|CODING|NM_001127615.1|17|1)",NHEK:H3K27me3,,,,0.6902,0.6758,0.8797,0.82,0.71,0.87,,,,,,,,,,,,,,,,
synonymous_variant,LACC1,SILENT,NM_001128303.1:p.Arg273Arg/c.819A>G,agA/agG,LOW,COSM3765705(1),0.0646965,0,rs9533673,,,,,,chr13,44457984,44457984,A,G,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg273Arg/c.819A>G|430|LACC1|protein_coding|CODING|NM_001128303.1|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg273Arg/c.819A>G|430|LACC1|protein_coding|CODING|NM_153218.2|4|1)","HMEC:H3K36me3,HSMM:DNase1",,,,0.0317,0.0793,0.1014,0.10,0.11,0.10,,,,,,,,,,,,,,,,
missense_variant,NUFIP1,MISSENSE,NM_012345.2:p.Ser36Arg/c.108C>G,agC/agG,MODERATE,COSM3765707(2),0.51258,0.5575,rs1140993,0.11(T),0.038(B),0.345(N),-1.0011(T),,chr13,45563464,45563464,G,C,hom,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser36Arg/c.108C>G|495|NUFIP1|protein_coding|CODING|NM_012345.2|1|1),upstream_gene_variant(MODIFIER||223||340|GPALPP1|protein_coding|CODING|NM_018559.2||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:BATF,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:HNF4A,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.6227,0.6441,0.7744,0.58,0.23,0.77,,0.857946(N),1.000(P),0.95(T),0.0000(T),0.056,1.400964,3.96,1.29,0.563000,0.253000,0.105000,0.006000,0.018000,0.017000,5.7108
missense_variant,COG3,MISSENSE,NM_031431.3:p.Leu825Ser/c.2474T>C,tTg/tCg,MODERATE,,0.998203,1,rs3014902,1(T),0.0(B),-2.125(N),-0.9651(T),,chr13,46108853,46108853,T,C,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu825Ser/c.2474T>C|828|COG3|protein_coding|CODING|NM_031431.3|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.000282(N),0.000(P),1.36(T),0.0000(T),0.097,0.036252,5.08,3.34,-1.003000,0.181000,1.226000,0.102000,0.012000,0.801000,9.0629
missense_variant,ERICH6B,MISSENSE,NM_182542.2:p.Glu178Lys/c.532G>A,Gag/Aag,MODERATE,COSM3999097(1),0.28135,0.1647,rs3014939,0(D),"0.101,0.931(B,D)",0.55(N),-0.9024(T),,chr13,46170609,46170609,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu178Lys/c.532G>A|696|ERICH6B|protein_coding|CODING|NM_182542.2|3|1),"GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.2515,0.438,0.502,0.41,0.18,0.50,,,1.000(P),3.24(T),0.0000(T),0.067,1.761883,1.17,1.17,0.511000,0.932000,-0.954000,0.004000,0.002000,0.000000,3.4521
stop_gained,SPERT,NONSENSE,NM_152719.2:p.Cys71*/c.213C>A,tgC/tgA,HIGH,,0.0680911,0.001,rs80072371,1(T),,,,,chr13,46287373,46287373,C,A,het,"stop_gained(HIGH|NONSENSE|tgC/tgA|p.Cys44*/c.132C>A|421|SPERT|protein_coding|CODING|NM_001286341.1|2|1),stop_gained(HIGH|NONSENSE|tgC/tgA|p.Cys35*/c.105C>A|412|SPERT|protein_coding|CODING|NM_001286342.1|3|1),stop_gained(HIGH|NONSENSE|tgC/tgA|p.Cys71*/c.213C>A|448|SPERT|protein_coding|CODING|NM_152719.2|3|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.0521,0.0461,0.0487,0.07,0.13,0.05,,0.000074(D),1.000(D),,,.,3.484572,5.1,-0.559,-0.142000,-0.368000,0.036000,0.118000,0.018000,0.034000,4.9892
missense_variant,SPERT,MISSENSE,NM_152719.2:p.Lys329Glu/c.985A>G,Aag/Gag,MODERATE,COSM3749251(10),0.494609,0.5,rs7317245,1(T),"0.0,0.0(B,B)",-0.895(N),-0.9353(T),,chr13,46288145,46288145,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys302Glu/c.904A>G|421|SPERT|protein_coding|CODING|NM_001286341.1|2|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys293Glu/c.877A>G|412|SPERT|protein_coding|CODING|NM_001286342.1|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys329Glu/c.985A>G|448|SPERT|protein_coding|CODING|NM_152719.2|3|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5562,0.4914,0.6869,0.61,0.41,0.71,,0.056559(N),1.000(P),"1.1,1.19(T,T)",0.0000(T),0.019,-1.812861,4.9,3.16,-0.119000,0.277000,1.217000,0.030000,0.890000,0.996000,5.0269
missense_variant,ZC3H13,MISSENSE,NM_015070.4:p.Glu1429Asp/c.4287A>T,gaA/gaT,MODERATE,,0.78095,0.8046,rs9534264,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9649(T),,chr13,46541673,46541673,T,A,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu1429Asp/c.4287A>T|1564|ZC3H13|protein_coding|CODING|NM_015070.4|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7076,0.768,0.6779,0.74,0.85,0.69,,0.013121(N),1.000(P),"2.69,1.9,1.73(T,T,T)",0.0000(T),0.012,-0.285845,5.43,3.0,-2.683000,-0.175000,0.963000,0.240000,0.057000,0.368000,7.9012
synonymous_variant,ZC3H13,SILENT,NM_015070.4:p.His414His/c.1242T>C,caT/caC,LOW,,0.782149,0.8046,rs1134071,,,,,,chr13,46562935,46562935,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His414His/c.1242T>C|1564|ZC3H13|protein_coding|CODING|NM_015070.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7106,0.768,0.6809,0.74,0.85,0.69,,,,,,,,,,,,,,,,
missense_variant,CPB2,MISSENSE,NM_001872.4:p.Ile347Thr/c.1040T>C,aTt/aCt,MODERATE,,0.783147,0.8065,rs1926447,0.48(T),"0.001,0.0(B,B)",-1.01(N),-1.0162(T),,chr13,46629944,46629944,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile310Thr/c.929T>C|386|CPB2|protein_coding|CODING|NM_001278541.1|9|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile347Thr/c.1040T>C|423|CPB2|protein_coding|CODING|NM_001872.4|10|1),intron_variant(MODIFIER|||n.118+2844A>G||CPB2-AS1||NON_CODING|NR_046226.1|1|1),intron_variant(MODIFIER|||n.118+2844A>G||CPB2-AS1||NON_CODING|NR_046227.1|1|1)",HepG2:H3K36me3,,,,0.7004,0.7738,0.6879,0.76,0.86,0.70,,0.614745(N),1.000(P),"2.85,2.85(T,T)",0.0000(T),0.05,-0.962594,5.44,-7.55,-1.163000,-1.637000,-0.823000,0.000000,0.000000,0.000000,11.2861
synonymous_variant,CPB2,SILENT,NM_001872.4:p.Ile251Ile/c.753C>T,atC/atT,LOW,,0.143371,0.2917,rs2277440,,,,,,chr13,46638826,46638826,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile214Ile/c.642C>T|386|CPB2|protein_coding|CODING|NM_001278541.1|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile251Ile/c.753C>T|423|CPB2|protein_coding|CODING|NM_001872.4|8|1),intron_variant(MODIFIER|||n.118+11726G>A||CPB2-AS1||NON_CODING|NR_046226.1|1|1),intron_variant(MODIFIER|||n.118+11726G>A||CPB2-AS1||NON_CODING|NR_046227.1|1|1)",HepG2:H3K36me3,,,,0.1084,0.1556,0.0626,0.08,0.12,0.06,,,,,,,,,,,,,,,,
synonymous_variant,CPB2,SILENT,NM_001872.4:p.Pro221Pro/c.663A>G,ccA/ccG,LOW,COSM3999100(1),0.806709,0.8234,rs7337140,,,,,,chr13,46641481,46641481,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro221Pro/c.663A>G|423|CPB2|protein_coding|CODING|NM_001872.4|7|1),intron_variant(MODIFIER|||n.118+14381T>C||CPB2-AS1||NON_CODING|NR_046226.1|1|1),intron_variant(MODIFIER|||n.118+14381T>C||CPB2-AS1||NON_CODING|NR_046227.1|1|1),intron_variant(MODIFIER|||c.592-2605A>G|386|CPB2|protein_coding|CODING|NM_001278541.1|6|1)",HepG2:H3K36me3,,,,0.7229,0.7911,0.7416,0.78,0.88,0.74,,,,,,,,,,,,,,,,
synonymous_variant,CPB2,SILENT,NM_001872.4:p.Asp97Asp/c.291T>C,gaT/gaC,LOW,,0.798722,0.8185,rs2296642,,,,,,chr13,46656669,46656669,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp97Asp/c.291T>C|386|CPB2|protein_coding|CODING|NM_001278541.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp97Asp/c.291T>C|423|CPB2|protein_coding|CODING|NM_001872.4|4|1),intron_variant(MODIFIER|||n.119-12319A>G||CPB2-AS1||NON_CODING|NR_046226.1|1|1),intron_variant(MODIFIER|||n.119-12319A>G||CPB2-AS1||NON_CODING|NR_046227.1|1|1)",HepG2:H3K36me3,,,,0.7209,0.7911,0.7406,0.78,0.86,0.74,,,,,,,,,,,,,,,,
missense_variant,LCP1,MISSENSE,NM_002298.4:p.Lys533Glu/c.1597A>G,Aag/Gag,MODERATE,COSM3999101(1),0.876597,0.9077,rs4941543,0.07(T),"0.004,0.0(B,B)",-0.345(N),-0.8642(T),,chr13,46708291,46708291,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys533Glu/c.1597A>G|627|LCP1|protein_coding|CODING|NM_002298.4|14|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.9796,0.915,0.8966,0.87,0.80,0.90,,0.061146(N),1.000(P),"-3.46,-3.46,-3.46(D,D,D)",0.0000(T),0.028,0.374567,5.93,4.19,-2.216000,0.129000,2.611000,0.000000,0.000000,0.014000,13.2338
missense_variant,LRRC63,MISSENSE,NM_001282460.1:p.Met137Val/c.409A>G,Atg/Gtg,MODERATE,COSM3999102(2),0.234425,0.2073,rs7338697,0.19(T),0.002(B),0.205(N),-0.9631(T),,chr13,46801970,46801970,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met137Val/c.409A>G|587|LRRC63|protein_coding|CODING|NM_001282460.1|3|1),,,,,0.1544,0.1988,0.0905,,,,,0.003661(N),1.000(P),"5.22,5.26(T,T)",0.0000(T),0.157,-1.060865,5.15,-2.33,-0.435000,-0.198000,-1.526000,0.007000,0.000000,0.000000,0.4431
missense_variant,LRRC63,MISSENSE,NM_001282460.1:p.Met206Val/c.616A>G,Atg/Gtg,MODERATE,COSM3813900(2),0.142772,0.2054,rs6561303,0.26(T),0.0(B),0(N),-0.9412(T),,chr13,46802177,46802177,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met206Val/c.616A>G|587|LRRC63|protein_coding|CODING|NM_001282460.1|3|1),,,,,0.1329,0.1527,0.0746,,,,,0.811709(N),1.000(P),"5.18,5.23(T,T)",0.0000(T),0.248,0.859794,5.0,-2.07,-0.389000,-0.393000,-0.000000,0.001000,0.000000,0.000000,4.6267
missense_variant,LRCH1,MISSENSE,NM_001164211.1:p.Ser234Pro/c.700T>C,Tcc/Ccc,MODERATE,,0.999201,1,rs386617038,1(T),"0.0,0.0,0.0(B,B,B)",-0.92(N),-0.9306(T),,chr13,47260054,47260054,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser234Pro/c.700T>C|763|LRCH1|protein_coding|CODING|NM_001164211.1|5|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser234Pro/c.700T>C|696|LRCH1|protein_coding|CODING|NM_001164213.1|5|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser234Pro/c.700T>C|728|LRCH1|protein_coding|CODING|NM_015116.2|5|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,0.997,1.00,1.00,1.00,,0.000000(N),0.382(P),"2.01,2.01,2.01(T,T,T)",0.0000(T),0.355,0.950448,5.93,5.93,-0.119000,1.546000,5.588000,0.917000,1.000000,1.000000,14.4813
synonymous_variant,LRCH1,SILENT,NM_001164211.1:p.Ala687Ala/c.2061A>G,gcA/gcG,LOW,,0.911941,0.8849,rs2298086,,,,,,chr13,47308109,47308109,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala687Ala/c.2061A>G|763|LRCH1|protein_coding|CODING|NM_001164211.1|19|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala652Ala/c.1956A>G|696|LRCH1|protein_coding|CODING|NM_001164213.1|18|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala652Ala/c.1956A>G|728|LRCH1|protein_coding|CODING|NM_015116.2|18|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9274,0.9755,0.997,0.95,0.85,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HTR2A,SILENT,NM_000621.4:p.Ser34Ser/c.102C>T,tcC/tcT,LOW,COSM3753711(1),0.441294,0.5883,rs386602276,,,,,,chr13,47469940,47469940,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser34Ser/c.102C>T|471|HTR2A|protein_coding|CODING|NM_000621.4|2|1),intron_variant(MODIFIER|||c.160+869C>T|387|HTR2A|protein_coding|CODING|NM_001165947.2|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4223,0.3545,0.4364,0.40,0.38,0.41,,,,,,,,,,,,,,,,
missense_variant,HTR2A,MISSENSE,NM_001165947.2:p.Asp49Asn/c.145G>A,Gac/Aac,MODERATE,,0.91893,1,rs6312,0(D),0.076(B),,-0.9928(T),,chr13,47470824,47470824,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp49Asn/c.145G>A|387|HTR2A|protein_coding|CODING|NM_001165947.2|1|1),5_prime_UTR_variant(MODIFIER||783|c.-344G>A|471|HTR2A|protein_coding|CODING|NM_000621.4|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K4me2,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9213,0.9438,0.9404,0.90,0.83,0.93,,,0.000(P),0.18(T),0.0000(T),0.062,1.202767,5.39,4.54,-0.310000,1.259000,4.845000,0.755000,0.216000,1.000000,13.5543
missense_variant,SUCLA2,MISSENSE,NM_003850.2:p.Ser199Thr/c.595T>A,Tct/Act,MODERATE,,0.683506,0.8006,rs7320366,1(T),0.001(B),-1.355(N),-0.9276(T),,chr13,48547467,48547467,A,T,hom,missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser199Thr/c.595T>A|463|SUCLA2|protein_coding|CODING|NM_003850.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6196,0.6571,0.8181,0.74,0.59,0.82,,0.000024(N),1.000(P),"-0.03,-0.03,-0.03,-0.03,-0.03,-0.03(T,T,T,T,T,T)",0.0000(T),0.221,0.250078,5.77,4.56,-0.257000,0.427000,4.741000,0.800000,0.998000,1.000000,10.5284
synonymous_variant,CAB39L,SILENT,NM_001079670.2:p.Leu79Leu/c.237A>G,ctA/ctG,LOW,COSM3753715(2),0.495807,0.1448,rs8002829,,,,,,chr13,49951142,49951142,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu79Leu/c.237A>G|337|CAB39L|protein_coding|CODING|NM_001079670.2|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu79Leu/c.237A>G|337|CAB39L|protein_coding|CODING|NM_001287337.1|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu79Leu/c.237A>G|337|CAB39L|protein_coding|CODING|NM_001287338.1|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu79Leu/c.237A>G|337|CAB39L|protein_coding|CODING|NM_001287339.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu79Leu/c.237A>G|337|CAB39L|protein_coding|CODING|NM_030925.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.5164,0.4784,0.5139,0.58,0.72,0.51,,,,,,,,,,,,,,,,
synonymous_variant,CAB39L,SILENT,NM_001079670.2:p.Pro62Pro/c.186A>G,ccA/ccG,LOW,COSM3753716(2),0.495807,0.1448,rs8002858,,,,,,chr13,49951193,49951193,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|337|CAB39L|protein_coding|CODING|NM_001079670.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|337|CAB39L|protein_coding|CODING|NM_001287337.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|337|CAB39L|protein_coding|CODING|NM_001287338.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|337|CAB39L|protein_coding|CODING|NM_001287339.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro62Pro/c.186A>G|337|CAB39L|protein_coding|CODING|NM_030925.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.5164,0.4784,0.5139,0.58,0.72,0.51,,,,,,,,,,,,,,,,
missense_variant,SETDB2,MISSENSE,NM_031915.2:p.Glu117Gly/c.350A>G,gAa/gGa,MODERATE,,0.727236,0.8046,rs7998427,0.5(T),"0.002,0.019,0.008(B,B,B)",1.04(L),-0.9306(T),,chr13,50050620,50050620,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu105Gly/c.314A>G|707|SETDB2|protein_coding|CODING|NM_001160308.1|5|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu117Gly/c.350A>G|719|SETDB2|protein_coding|CODING|NM_031915.2|7|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.7507,0.673,0.72,0.78,0.69,,0.552626(N),1.000(P),"-2.17,-2.18,1.14(D,D,T)",0.0000(T),0.075,-0.415170,5.96,3.52,0.533000,0.499000,3.304000,0.065000,0.414000,0.914000,8.5912
missense_variant,SETDB2,MISSENSE,NM_031915.2:p.Val473Met/c.1417G>A,Gtg/Atg,MODERATE,,0.820687,0.873,rs2057413,0.12(T),"0.002,0.003,0.004,0.001(B,B,B,B)",0.55(N),-0.9573(T),,chr13,50057097,50057097,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val461Met/c.1381G>A|707|SETDB2|protein_coding|CODING|NM_001160308.1|8|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val473Met/c.1417G>A|719|SETDB2|protein_coding|CODING|NM_031915.2|10|1),splice_region_variant(LOW|||c.1381G>A|707|SETDB2|protein_coding|CODING|NM_001160308.1|8|1),splice_region_variant(LOW|||c.1417G>A|719|SETDB2|protein_coding|CODING|NM_031915.2|10|1)","HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.728,0.7839,0.6909,0.78,0.93,0.70,,0.811684(N),1.000(P),"-2.17,-2.15,1.13(D,D,T)",0.0000(T),0.033,-0.281056,5.1,-0.814,-0.254000,-0.236000,-0.045000,0.008000,0.000000,0.000000,5.8109
synonymous_variant,SETDB2,SILENT,NM_031915.2:p.Gln484Gln/c.1452A>G,caA/caG,LOW,COSM4147726(1),0.471446,0.4762,rs11619265,,,,,,chr13,50057633,50057633,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln472Gln/c.1416A>G|707|SETDB2|protein_coding|CODING|NM_001160308.1|9|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln484Gln/c.1452A>G|719|SETDB2|protein_coding|CODING|NM_031915.2|11|1)","K562:Gata1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:DNase1,K562:DNase1",,,,0.3548,0.5,0.5239,0.54,0.52,0.54,,,,,,,,,,,,,,,,
synonymous_variant,PHF11,SILENT,NM_001040443.1:p.Leu57Leu/c.171A>G,ctA/ctG,LOW,,0.782149,0.873,rs2031532,,,,,,chr13,50080847,50080847,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu57Leu/c.171A>G|331|PHF11|protein_coding|CODING|NM_001040443.1|2|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu18Leu/c.54A>G|292|PHF11|protein_coding|CODING|NM_001040444.1|3|1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",Cardiac_hypertrophy,,,0.68,0.745,0.6421,0.72,0.88,0.64,,,,,,,,,,,,,,,,
synonymous_variant,RCBTB1,SILENT,NM_018191.3:p.Pro339Pro/c.1017C>G,ccC/ccG,LOW,COSM3753717(2),0.47524,0.5149,rs3751384,,,,,,chr13,50123622,50123622,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro339Pro/c.1017C>G|531|RCBTB1|protein_coding|CODING|NM_018191.3|9|1),"NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.4274,0.6441,0.6441,0.55,0.32,0.68,,,,,,,,,,,,,,,,
synonymous_variant,RCBTB1,SILENT,NM_018191.3:p.Leu215Leu/c.643C>T,Ctg/Ttg,LOW,,0.859026,0.8889,rs2274278,,,,,,chr13,50126382,50126382,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu215Leu/c.643C>T|531|RCBTB1|protein_coding|CODING|NM_018191.3|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8108,0.8732,0.8241,0.86,0.90,0.83,,,,,,,,,,,,,,,,
missense_variant,RCBTB1,MISSENSE,NM_018191.3:p.Ala24Val/c.71C>T,gCg/gTg,MODERATE,,0.526158,0.6131,rs4942848,1(T),0.999(D),1.35(L),-0.9268(T),,chr13,50141345,50141345,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala24Val/c.71C>T|531|RCBTB1|protein_coding|CODING|NM_018191.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4397,0.7305,0.6561,0.58,0.38,0.68,,0.000000(D),0.000(P),"1.34,1.34,-1.07(T,T,T)",0.0000(T),0.369,4.468169,5.84,5.84,0.591000,2.779000,9.358000,0.904000,0.989000,1.000000,20.1466
missense_variant,ARL11,MISSENSE,NM_138450.5:p.Cys148Arg/c.442T>C,Tgc/Cgc,MODERATE,,0.253794,0.1865,rs3803185,0.25(T),0.003(B),-0.175(N),-1.0405(T),,chr13,50205025,50205025,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys148Arg/c.442T>C|196|ARL11|protein_coding|CODING|NM_138450.5|2|1),"GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2229,0.4006,0.496,0.39,0.15,0.51,,0.498086(N),1.000(P),-1.48(T),0.0000(T),0.023,-1.135197,5.42,-10.8,-1.140000,-2.504000,-1.348000,0.007000,0.000000,0.000000,5.6024
synonymous_variant,KPNA3,SILENT,NM_002267.3:p.Pro234Pro/c.702G>A,ccG/ccA,LOW,COSM4147730(1),0.8752,0.999,rs1127021,,,,,,chr13,50296115,50296115,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro234Pro/c.702G>A|521|KPNA3|protein_coding|CODING|NM_002267.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9274,0.8804,0.8569,0.84,0.77,0.87,,,,,,,,,,,,,,,,
missense_variant,DHRS12,MISSENSE,NM_001270424.1:p.Leu58Pro/c.173T>C,cTt/cCt,MODERATE,,0.0179712,0,rs490799,0.23(T),0.053(B),,-0.7862(T),,chr13,52373687,52373687,A,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu58Pro/c.173T>C|317|DHRS12|protein_coding|CODING|NM_001270424.1|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu37Leu/c.109T>C|271|DHRS12|protein_coding|CODING|NM_001031719.2|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu37Leu/c.109T>C|242|DHRS12|protein_coding|CODING|NM_024705.2|2|1)","HUVEC:H3K27me3,CD4:H4K91ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0593,0.0159,0.0179,0.02,0.00,0.03,,0.047400(N),1.000(N),-2.27(D),0.1936(T),0.456,0.731030,3.62,-3.38,0.533000,-0.687000,-0.491000,0.311000,0.000000,0.000000,9.9834
missense_variant,CCDC70,MISSENSE,NM_031290.2:p.Ile206Val/c.616A>G,Att/Gtt,MODERATE,,0.355831,0.4127,rs1054515,0.89(T),0.001(B),0.29(N),-0.9388(T),,chr13,52440130,52440130,A,G,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile206Val/c.616A>G|233|CCDC70|protein_coding|CODING|NM_031290.2|2|1),"HUVEC:H3K27me3,H1ESC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.3344,0.4582,0.3439,0.32,0.29,0.34,,0.096983(N),1.000(P),2.86(T),0.0000(T),0.017,-0.725974,5.05,-10.1,-0.648000,-2.204000,-0.833000,0.022000,0.000000,0.000000,5.5287
missense_variant,ATP7B,MISSENSE,NM_000053.3:p.Val1140Ala/c.3419T>C,gTc/gCc,MODERATE,COSM3765712(1),0.540535,0.4008,rs1801249,0.91(T),"0.0,0.003,0.0,0.001,0.0,0.038,0.0,0.001(B,B,B,B,B,B,B,B)",0(N),-0.9544(T),,chr13,52515354,52515354,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val1140Ala/c.3419T>C|1465|ATP7B|protein_coding|CODING|NM_000053.3|16|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val933Ala/c.2798T>C|1258|ATP7B|protein_coding|CODING|NM_001005918.2|12|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val1029Ala/c.3086T>C|1354|ATP7B|protein_coding|CODING|NM_001243182.1|17|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000029369.1|RCV000078051.1,,0.5399,0.5893,0.6034,0.58,0.55,0.59,,0.057420(N),1.000(P),"-3.86,-3.84,-3.97,-4.43,-3.78,-4.26,-3.87(D,D,D,D,D,D,D)",0.0000(T),0.021,-1.739159,5.0,0.0868,-0.119000,-0.133000,0.110000,0.305000,0.001000,0.251000,1.6572
missense_variant,ATP7B,MISSENSE,NM_000053.3:p.Arg952Lys/c.2855G>A,aGa/aAa,MODERATE,COSM147691(4),0.53095,0.4018,rs386609281,0.99(T),"0.0,0.0,0.0,0.0,0.03,0.017,0.001(B,B,B,B,B,B,B)",-1.04(N),-0.9648(T),,chr13,52523808,52523808,C,T,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg952Lys/c.2855G>A|1465|ATP7B|protein_coding|CODING|NM_000053.3|12|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg841Lys/c.2522G>A|1354|ATP7B|protein_coding|CODING|NM_001243182.1|13|1),intron_variant(MODIFIER|||c.2244+335G>A|1258|ATP7B|protein_coding|CODING|NM_001005918.2|8|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,RCV000029357.1|RCV000078044.1,,0.5399,0.5836,0.6034,0.57,0.52,0.59,,0.000000(N),0.000(P),"-3.79,-3.78,-4.34,-3.73,-4.18,-3.85(D,D,D,D,D,D)",0.0000(T),0.214,1.511456,6.06,6.06,-0.254000,1.111000,2.781000,0.869000,0.998000,0.997000,12.3556
missense_variant,ATP7B,MISSENSE,NM_000053.3:p.Lys832Arg/c.2495A>G,aAg/aGg,MODERATE,COSM3753723(2),0.502396,0.4008,rs1061472,0.09(T),"0.024,0.789,0.575,0.014,0.006,0.713,0.203(B,P,P,B,B,P,B)",0.16(N),-0.9313(T),,chr13,52524488,52524488,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys832Arg/c.2495A>G|1465|ATP7B|protein_coding|CODING|NM_000053.3|10|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys670Arg/c.2009A>G|1258|ATP7B|protein_coding|CODING|NM_001005918.2|7|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys721Arg/c.2162A>G|1354|ATP7B|protein_coding|CODING|NM_001243182.1|11|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,CD4:H2BK120ac",,RCV000029356.1|RCV000078043.1,,0.5358,0.4769,0.5954,0.55,0.48,0.59,,0.000000(D),0.000(P),"-2.64,-2.64,-2.64,-2.64,-2.64,-2.64(D,D,D,D,D,D)",0.0000(T),0.55,3.416769,5.54,5.54,0.533000,2.107000,6.206000,0.984000,1.000000,1.000000,15.6572
missense_variant,ATP7B,MISSENSE,NM_000053.3:p.Val456Leu/c.1366G>C,Gtg/Ctg,MODERATE,COSM3753724(2),0.376997,0.4841,rs1801244,0.71(T),"0.02,0.009,0.0,0.039,0.018,0.032,0.002(B,B,B,B,B,B,B)",0.695(N),-1.0055(T),,chr13,52544805,52544805,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val456Leu/c.1366G>C|1465|ATP7B|protein_coding|CODING|NM_000053.3|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val456Leu/c.1366G>C|1258|ATP7B|protein_coding|CODING|NM_001005918.2|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val345Leu/c.1033G>C|1354|ATP7B|protein_coding|CODING|NM_001243182.1|4|1)","K562:H3K36me3,HepG2:H3K36me3",,RCV000029351.1|RCV000078039.1,,0.362,0.389,0.5258,0.41,0.22,0.49,,0.761497(N),1.000(P),"-3.8,-3.8,-3.93,-3.74,-3.82,-1.94(D,D,D,D,D,D)",0.0000(T),0.089,1.543605,5.17,-0.181,0.655000,0.214000,-1.004000,0.631000,0.001000,0.000000,2.1644
missense_variant,ATP7B,MISSENSE,NM_000053.3:p.Ser406Ala/c.1216T>G,Tct/Gct,MODERATE,COSM3753725(1),0.376198,0.5367,rs1801243,0.78(T),"0.017,0.013,0.004,0.07,0.078,0.032,0.005,0.004(B,B,B,B,B,B,B,B)",0.895(L),-0.9991(T),,chr13,52548140,52548140,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser295Ala/c.883T>G|1354|ATP7B|protein_coding|CODING|NM_001243182.1|3|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser406Ala/c.1216T>G|1465|ATP7B|protein_coding|CODING|NM_000053.3|2|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser406Ala/c.1216T>G|1258|ATP7B|protein_coding|CODING|NM_001005918.2|2|1)","GM12878:H3K27me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000029350.1|RCV000078038.1,,0.3681,0.3934,0.5229,0.40,0.19,0.50,,0.665665(N),1.000(P),"-2.09,-2.09,-2.09,-2.09,-2.09,-2.09,-2.09(D,D,D,D,D,D,D)",0.0000(T),0.054,2.623220,5.52,-0.027,0.460000,0.055000,-0.669000,0.656000,0.002000,0.000000,4.4207
missense_variant,UTP14C,MISSENSE,NM_021645.5:p.Gly85Val/c.254G>T,gGc/gTc,MODERATE,COSM3753726(1),0.58127,0.5952,rs3742289,0.4(T),0.0(B),-1.26(N),-1.0485(T),,chr13,52603194,52603194,G,T,hom,"missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly85Val/c.254G>T|766|UTP14C|protein_coding|CODING|NM_021645.5|2|1),3_prime_UTR_variant(MODIFIER||468|c.*468G>T|492|ALG11|protein_coding|CODING|NM_001004127.2|4|1),non_coding_exon_variant(MODIFIER|||n.816G>T||ALG11||CODING|NR_036571.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.6585,0.7237,0.63,0.49,0.71,,0.321382(N),0.000(P),2.32(T),0.0000(T),0.114,0.405261,2.56,0.0496,-0.556000,-0.133000,0.238000,0.943000,0.958000,0.292000,3.8677
synonymous_variant,UTP14C,SILENT,NM_021645.5:p.Leu279Leu/c.835C>T,Ctg/Ttg,LOW,COSM3753727(1),0.510583,0.5952,rs3742291,,,,,,chr13,52603775,52603775,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu279Leu/c.835C>T|766|UTP14C|protein_coding|CODING|NM_021645.5|2|1),3_prime_UTR_variant(MODIFIER||1049|c.*1049C>T|492|ALG11|protein_coding|CODING|NM_001004127.2|4|1),non_coding_exon_variant(MODIFIER|||n.1397C>T||ALG11||CODING|NR_036571.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.6412,0.7227,0.56,0.29,0.71,,,,,,,,,,,,,,,,
missense_variant,UTP14C,MISSENSE,NM_021645.5:p.Arg319His/c.956G>A,cGc/cAc,MODERATE,,0.0305511,0,rs17402034,,1.0(D),3.29(M),-1.1046(T),,chr13,52603896,52603896,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg319His/c.956G>A|766|UTP14C|protein_coding|CODING|NM_021645.5|2|1),downstream_gene_variant(MODIFIER||116||492|ALG11|protein_coding|CODING|NM_001004127.2||1),downstream_gene_variant(MODIFIER||116|||ALG11||CODING|NR_036571.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0245,0.0346,0.0994,0.08,0.02,0.11,,0.000002(N),1.000(D),1.14(T),0.0070(T),0.188,2.197270,2.58,0.736,0.448000,0.021000,5.938000,0.912000,0.028000,1.000000,6.3491
synonymous_variant,NEK3,SILENT,NM_002498.2:p.Pro412Pro/c.1236T>G,ccT/ccG,LOW,COSM147694(1),0.200879,0.1756,rs2296351,,,,,,chr13,52709938,52709938,A,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro395Pro/c.1185T>G|489|NEK3|protein_coding|CODING|NM_001146099.1|13|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro412Pro/c.1236T>G|506|NEK3|protein_coding|CODING|NM_002498.2|14|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro412Pro/c.1236T>G|506|NEK3|protein_coding|CODING|NM_152720.2|14|1),non_coding_exon_variant(MODIFIER|||n.1611T>G||NEK3||CODING|NR_027415.2|14|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1912,0.2954,0.4076,0.28,0.07,0.37,,,,,,,,,,,,,,,,
synonymous_variant,THSD1,SILENT,NM_018676.3:p.Ile165Ile/c.495C>T,atC/atT,LOW,COSM1747483(3),0.58766,0.6458,rs3803264,,,,,,chr13,52971893,52971893,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile165Ile/c.495C>T|852|THSD1|protein_coding|CODING|NM_018676.3|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile165Ile/c.495C>T|799|THSD1|protein_coding|CODING|NM_199263.2|3|1)","GM06990:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5389,0.6383,0.6889,0.60,0.47,0.67,,,,,,,,,,,,,,,,
synonymous_variant,CKAP2,SILENT,NM_001098525.2:p.Thr275Thr/c.825T>C,acT/acC,LOW,,0.997404,1,rs7337054,,,,,,chr13,53035783,53035783,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr275Thr/c.825T>C|683|CKAP2|protein_coding|CODING|NM_001098525.2|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr226Thr/c.678T>C|634|CKAP2|protein_coding|CODING|NM_001286686.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr274Thr/c.822T>C|494|CKAP2|protein_coding|CODING|NM_001286687.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr274Thr/c.822T>C|682|CKAP2|protein_coding|CODING|NM_018204.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,CKAP2,MISSENSE,NM_001098525.2:p.Ile323Val/c.967A>G,Ata/Gta,MODERATE,,0.999601,1,rs7335867,,"0.001,0.0,0.0(B,B,B)",-2.24(N),-1.0018(T),,chr13,53035925,53035925,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile323Val/c.967A>G|683|CKAP2|protein_coding|CODING|NM_001098525.2|4|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile274Val/c.820A>G|634|CKAP2|protein_coding|CODING|NM_001286686.1|4|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile322Val/c.964A>G|494|CKAP2|protein_coding|CODING|NM_001286687.1|4|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile322Val/c.964A>G|682|CKAP2|protein_coding|CODING|NM_018204.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.750977(N),1.000(P),"2.45,2.15,2.47,2.46(T,T,T,T)",0.0000(T),0.001,-2.606433,5.36,-1.67,-0.838000,-0.480000,-0.290000,0.001000,0.000000,0.000000,7.3682
synonymous_variant,PCDH8,SILENT,NM_002590.3:p.Gly380Gly/c.1140G>T,ggG/ggT,LOW,,0.284545,0.5119,rs3742300,,,,,,chr13,53421432,53421432,C,A,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly380Gly/c.1140G>T|1070|PCDH8|protein_coding|CODING|NM_002590.3|1|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly380Gly/c.1140G>T|973|PCDH8|protein_coding|CODING|NM_032949.2|1|1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K27me3,HepG2:Nrsf,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,H1ESC:Sin3Ak20,K562:Nrsf,GM12878:Nrsf,H1ESC:Rad21,H1ESC:CTCF",,,,0.2822,0.2579,0.2048,0.15,0.15,0.15,,,,,,,,,,,,,,,,
missense_variant,PCDH8,MISSENSE,NM_002590.3:p.Trp7Arg/c.19T>C,Tgg/Cgg,MODERATE,COSM3753729(2),0.284545,0.5119,rs3742301,0.34(T),"0.0,0.0(B,B)",0(N),-0.9210(T),,chr13,53422553,53422553,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|1070|PCDH8|protein_coding|CODING|NM_002590.3|1|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|973|PCDH8|protein_coding|CODING|NM_032949.2|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,CD4:H3K79me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.2822,0.2579,0.2048,0.19,0.20,0.19,,0.013964(N),1.000(P),"0.72,0.69(T,T)",0.0000(T),0.059,0.202283,5.3,-0.221,0.460000,-0.415000,0.115000,0.390000,0.455000,0.032000,2.1402
synonymous_variant,OLFM4,SILENT,NM_006418.4:p.Ser118Ser/c.354C>T,tcC/tcT,LOW,COSM3753730(1),0.565296,0.7242,rs2298231,,,,,,chr13,53608632,53608632,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser118Ser/c.354C>T|510|OLFM4|protein_coding|CODING|NM_006418.4|2|1),HepG2:H3K27me3,,,,0.6278,0.6225,0.501,0.47,0.44,0.49,,,,,,,,,,,,,,,,
missense_variant,PCDH17,MISSENSE,NM_001040429.2:p.Arg344Leu/c.1031G>T,cGc/cTc,MODERATE,,0.00479233,0,rs41292834,,"0.017,0.012(B,B)",-0.69(N),-1.0326(T),,chr13,58207711,58207711,G,T,het,missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg344Leu/c.1031G>T|1159|PCDH17|protein_coding|CODING|NM_001040429.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,CD4:H3K79me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.002,0.0043,0.0169,0.01,0.00,0.01,,0.000000(D),0.999(D),0.25(T),0.0381(T),0.667,1.647374,5.57,5.57,0.650000,2.640000,3.511000,0.996000,1.000000,1.000000,12.8315
synonymous_variant,DIAPH3,SILENT,NM_001042517.1:p.Ala1157Ala/c.3471G>A,gcG/gcA,LOW,,0.0417332,0.0228,rs386501889,,,,,,chr13,60240829,60240829,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1146Ala/c.3438G>A|1182|DIAPH3|protein_coding|CODING|NM_001258366.1|27|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1111Ala/c.3333G>A|1147|DIAPH3|protein_coding|CODING|NM_001258367.1|26|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1087Ala/c.3261G>A|1123|DIAPH3|protein_coding|CODING|NM_001258368.1|26|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1157Ala/c.3471G>A|1193|DIAPH3|protein_coding|CODING|NM_001042517.1|28|1)","HUVEC:DNase1,HUVEC:FAIRE",,,,0.047,0.0231,0.0586,0.05,0.05,0.05,,,,,,,,,,,,,,,,
synonymous_variant,DIAPH3,SILENT,NM_001042517.1:p.Leu1113Leu/c.3339G>A,ttG/ttA,LOW,COSM3765714(1),0.146965,0.1071,rs9538494,,,,,,chr13,60240961,60240961,C,T,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu1102Leu/c.3306G>A|1182|DIAPH3|protein_coding|CODING|NM_001258366.1|27|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu1067Leu/c.3201G>A|1147|DIAPH3|protein_coding|CODING|NM_001258367.1|26|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu1043Leu/c.3129G>A|1123|DIAPH3|protein_coding|CODING|NM_001258368.1|26|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu1113Leu/c.3339G>A|1193|DIAPH3|protein_coding|CODING|NM_001042517.1|28|1)",HUVEC:DNase1,,,,0.1902,0.2147,0.2594,0.20,0.06,0.27,,,,,,,,,,,,,,,,
missense_variant,DIAPH3,MISSENSE,NM_001042517.1:p.Asn363Ser/c.1088A>G,aAt/aGt,MODERATE,,0.0742812,0.0317,rs36084898,0.41(T),"0.998,0.998,0.998,0.997,0.987(D,D,D,D,D)",2(M),-0.6261(T),,chr13,60566644,60566644,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn363Ser/c.1088A>G|1193|DIAPH3|protein_coding|CODING|NM_001042517.1|10|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn352Ser/c.1055A>G|1182|DIAPH3|protein_coding|CODING|NM_001258366.1|9|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn317Ser/c.950A>G|1147|DIAPH3|protein_coding|CODING|NM_001258367.1|8|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn293Ser/c.878A>G|1123|DIAPH3|protein_coding|CODING|NM_001258368.1|8|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn363Ser/c.1088A>G|1112|DIAPH3|protein_coding|CODING|NM_001258369.1|10|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn100Ser/c.299A>G|691|DIAPH3|protein_coding|CODING|NM_001258370.1|4|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn100Ser/c.299A>G|849|DIAPH3|protein_coding|CODING|NM_030932.3|4|1)","HUVEC:H3K36me3,HepG2:H3K36me3",,,,0.0593,0.121,0.0557,0.07,0.09,0.05,,0.000000(D),0.996(D),"-1.59,-1.59,-1.59,-1.59,-1.59,-1.59(D,D,D,D,D,D)",0.0595(T),0.153,2.680034,5.8,5.8,0.455000,2.207000,7.606000,0.996000,1.000000,1.000000,16.1372
synonymous_variant,PCDH20,SILENT,NM_022843.3:p.Val438Val/c.1314G>T,gtG/gtT,LOW,,0.802316,0.9226,rs3812872,,,,,,chr13,61986918,61986918,C,A,hom,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val438Val/c.1314G>T|951|PCDH20|protein_coding|CODING|NM_022843.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.862,0.8285,0.6938,0.72,0.74,0.71,,,,,,,,,,,,,,,,
synonymous_variant,PCDH9,SILENT,NM_203487.2:p.Val718Val/c.2154G>C,gtG/gtC,LOW,,0.0231629,0,rs41283952,,,,,,chr13,67800419,67800419,C,G,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val718Val/c.2154G>C|1203|PCDH9|protein_coding|CODING|NM_020403.4|2|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val718Val/c.2154G>C|1237|PCDH9|protein_coding|CODING|NM_203487.2|2|1)","HSMM:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0072,0.0922,0.0417,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,PCDH9,SILENT,NM_203487.2:p.Asp546Asp/c.1638C>T,gaC/gaT,LOW,COSM3999116(2),0.426717,0.5536,rs9571740,,,,,,chr13,67800935,67800935,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp546Asp/c.1638C>T|1203|PCDH9|protein_coding|CODING|NM_020403.4|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp546Asp/c.1638C>T|1237|PCDH9|protein_coding|CODING|NM_203487.2|2|1)","HSMM:H3K36me3,HepG2:H3K27me3",,,,0.4438,0.4697,0.5298,0.45,0.26,0.55,,,,,,,,,,,,,,,,
synonymous_variant,PCDH9,SILENT,NM_203487.2:p.Val78Val/c.234T>A,gtT/gtA,LOW,,0.69988,0.6806,rs8000556,,,,,,chr13,67802339,67802339,A,T,hom,"synonymous_variant(LOW|SILENT|gtT/gtA|p.Val78Val/c.234T>A|1203|PCDH9|protein_coding|CODING|NM_020403.4|2|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val78Val/c.234T>A|1237|PCDH9|protein_coding|CODING|NM_203487.2|2|1)","HSMM:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.773,0.7493,0.7942,0.72,0.56,0.80,,,,,,,,,,,,,,,,
missense_variant,MZT1,MISSENSE,NM_001071775.2:p.Ser5Gly/c.13A>G,Agc/Ggc,MODERATE,COSM3753731(2),0.869609,0.9762,rs1465896,0.38(T),0.0(B),,-0.9807(T),,chr13,73301728,73301728,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser5Gly/c.13A>G|82|MZT1|protein_coding|CODING|NM_001071775.2|1|1),upstream_gene_variant(MODIFIER||159||489|BORA|protein_coding|CODING|NM_001286747.1||1),upstream_gene_variant(MODIFIER||159||619|BORA|protein_coding|CODING|NM_024808.3||1),upstream_gene_variant(MODIFIER||314||634|BORA|protein_coding|CODING|NM_001286746.1||1)","NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HeLa-S3:Tr4,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:E2F4,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.9611,0.9712,0.9881,0.87,0.63,0.99,,0.788610(N),1.000(P),0.83(T),0.0000(T),0.064,0.538470,5.4,0.598,-0.375000,0.011000,-0.843000,0.382000,0.180000,0.000000,8.5544
missense_variant,BORA,MISSENSE,NM_001286746.1:p.Val25Ile/c.73G>A,Gta/Ata,MODERATE,,0.16853,0.252,rs2277417,,,,,,chr13,73302261,73302261,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val25Ile/c.73G>A|634|BORA|protein_coding|CODING|NM_001286746.1|1|1),upstream_gene_variant(MODIFIER||323||82|MZT1|protein_coding|CODING|NM_001071775.2||1),intron_variant(MODIFIER|||c.-119+116G>A|489|BORA|protein_coding|CODING|NM_001286747.1|1|1),intron_variant(MODIFIER|||c.165+116G>A|619|BORA|protein_coding|CODING|NM_024808.3|1|1)","NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:E2F4,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.1513,0.2089,0.2734,,,,,,,,,,,,,,,,,,,
synonymous_variant,BORA,SILENT,NM_001286746.1:p.Ser46Ser/c.138G>A,tcG/tcA,LOW,,0.0569089,0.001,rs113113572,,,,,,chr13,73302326,73302326,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser46Ser/c.138G>A|634|BORA|protein_coding|CODING|NM_001286746.1|1|1),upstream_gene_variant(MODIFIER||388||82|MZT1|protein_coding|CODING|NM_001071775.2||1),intron_variant(MODIFIER|||c.-119+181G>A|489|BORA|protein_coding|CODING|NM_001286747.1|1|1),intron_variant(MODIFIER|||c.165+181G>A|619|BORA|protein_coding|CODING|NM_024808.3|1|1)","NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.0746,0.062,0.1581,,,,,,,,,,,,,,,,,,,
synonymous_variant,DIS3,SILENT,NM_014953.4:p.Thr589Thr/c.1767G>A,acG/acA,LOW,,0.770168,0.748,rs2196979,,,,,,chr13,73343039,73343039,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr559Thr/c.1677G>A|928|DIS3|protein_coding|CODING|NM_001128226.2|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr589Thr/c.1767G>A|958|DIS3|protein_coding|CODING|NM_014953.4|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.819,0.7637,0.6859,0.75,0.82,0.71,,,,,,,,,,,,,,,,
missense_variant,DIS3,MISSENSE,NM_014953.4:p.Thr326Arg/c.977C>G,aCa/aGa,MODERATE,,0.432708,0.2946,rs7332388,0.52(T),"0.001,0.0(B,B)",0.205(N),-0.9586(T),,chr13,73349359,73349359,G,C,het,"missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr296Arg/c.887C>G|928|DIS3|protein_coding|CODING|NM_001128226.2|6|1),missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr326Arg/c.977C>G|958|DIS3|protein_coding|CODING|NM_014953.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3303,0.2839,0.4215,0.50,0.68,0.42,,0.689042(N),1.000(P),"0.87,0.87,0.87(T,T,T)",0.0000(T),0.113,0.654453,6.06,-3.74,-0.786000,-1.012000,0.304000,0.693000,0.733000,0.994000,8.482
synonymous_variant,KLF12,SILENT,NM_007249.4:p.Gly280Gly/c.840C>A,ggC/ggA,LOW,COSM3999121(1),0.407748,0.1815,rs3764134,,,,,,chr13,74339104,74339104,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly280Gly/c.840C>A|402|KLF12|protein_coding|CODING|NM_007249.4|6|1),"HSMM:H3K36me3,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.5644,0.389,0.5209,0.51,0.40,0.57,,,,,,,,,,,,,,,,
synonymous_variant,TBC1D4,SILENT,NM_014832.3:p.Leu967Leu/c.2901C>T,ctC/ctT,LOW,COSM4147754(1),0.369209,0.1528,rs2297208,,,,,,chr13,75876389,75876389,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu959Leu/c.2877C>T|1290|TBC1D4|protein_coding|CODING|NM_001286658.1|15|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu904Leu/c.2712C>T|1235|TBC1D4|protein_coding|CODING|NM_001286659.1|14|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu967Leu/c.2901C>T|1298|TBC1D4|protein_coding|CODING|NM_014832.3|16|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HepG2:FOXA2,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:FOXA1",,RCV000118590.2,,0.4151,0.4986,0.5527,0.48,0.34,0.55,,,,,,,,,,,,,,,,
missense_variant,TBC1D4,MISSENSE,NM_014832.3:p.Val819Ile/c.2455G>A,Gta/Ata,MODERATE,COSM3999123(1),0.711861,0.7956,rs1062087,0.34(T),"0.0,0.0,0.001,0.001(B,B,B,B)",-1.245(N),-1.0274(T),,chr13,75884216,75884216,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val811Ile/c.2431G>A|1290|TBC1D4|protein_coding|CODING|NM_001286658.1|13|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val756Ile/c.2266G>A|1235|TBC1D4|protein_coding|CODING|NM_001286659.1|12|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val819Ile/c.2455G>A|1298|TBC1D4|protein_coding|CODING|NM_014832.3|14|1)","HUVEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118589.2,,0.9335,0.6643,0.8579,0.77,0.50,0.88,,0.001940(N),1.000(P),"4.09,4.09,4.08,3.83,2.03(T,T,T,T,T)",0.0000(T),0.099,0.813047,5.93,1.89,-0.254000,0.143000,0.019000,0.988000,0.119000,0.000000,0.1809
synonymous_variant,TBC1D4,SILENT,NM_014832.3:p.Gly241Gly/c.723G>C,ggG/ggC,LOW,,0.995208,1,rs7983969,,,,,,chr13,75936519,75936519,C,G,hom,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly241Gly/c.723G>C|1290|TBC1D4|protein_coding|CODING|NM_001286658.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly241Gly/c.723G>C|1235|TBC1D4|protein_coding|CODING|NM_001286659.1|2|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly241Gly/c.723G>C|1298|TBC1D4|protein_coding|CODING|NM_014832.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118596.2,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,TBC1D4,MISSENSE,NM_014832.3:p.Arg92Leu/c.275G>T,cGt/cTt,MODERATE,,0.000199681,0,rs201175293,0.01(D),"0.229,0.998,0.995(B,D,D)",1.61(L),-0.6101(T),,chr13,76055629,76055629,C,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg92Leu/c.275G>T|1290|TBC1D4|protein_coding|CODING|NM_001286658.1|1|1),missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg92Leu/c.275G>T|1235|TBC1D4|protein_coding|CODING|NM_001286659.1|1|1),missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg92Leu/c.275G>T|1298|TBC1D4|protein_coding|CODING|NM_014832.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0,0,0.001,0.00,0.00,0.00,,0.000090(D),1.000(D),"0.85,0.85,0.85(T,T,T)",0.1907(T),0.878,4.414041,3.95,3.95,0.561000,2.017000,6.694000,0.934000,0.985000,1.000000,16.1706
synonymous_variant,TBC1D4,SILENT,NM_014832.3:p.Pro28Pro/c.84C>G,ccC/ccG,LOW,COSM4147755(1),0.35623,0.2153,rs7327548,,,,,,chr13,76055820,76055820,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro28Pro/c.84C>G|1290|TBC1D4|protein_coding|CODING|NM_001286658.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro28Pro/c.84C>G|1235|TBC1D4|protein_coding|CODING|NM_001286659.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro28Pro/c.84C>G|1298|TBC1D4|protein_coding|CODING|NM_014832.3|1|1)","NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000118597.2,,0.1973,0.3573,0.3976,0.43,0.52,0.39,,,,,,,,,,,,,,,,
synonymous_variant,LMO7,SILENT,NM_005358.5:p.Phe284Phe/c.852T>C,ttT/ttC,LOW,,0.94369,1,rs625033,,,,,,chr13,76378459,76378459,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe284Phe/c.852T>C|1349|LMO7|protein_coding|CODING|NM_005358.5|9|1),5_prime_UTR_variant(MODIFIER||4|c.-4T>C|1385|LMO7|protein_coding|CODING|NM_015842.2|5|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9867,0.9323,0.9245,0.90,0.88,0.92,,,0.000(P),,,.,0.391144,6.08,5.22,-0.119000,0.891000,2.833000,0.146000,0.910000,1.000000,7.7984
missense_variant,LMO7,MISSENSE,NM_015842.2:p.Met1162Thr/c.3485T>C,aTg/aCg,MODERATE,COSM1367703(2),0.686901,0.5377,rs7986131,1(T),"0.0,0.0,0.0(B,B,B)",-2.32(N),-0.9425(T),,chr13,76423248,76423248,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1113Thr/c.3338T>C|1349|LMO7|protein_coding|CODING|NM_005358.5|26|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1162Thr/c.3485T>C|1385|LMO7|protein_coding|CODING|NM_015842.2|24|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7679,0.7651,0.7624,0.72,0.67,0.75,,0.550272(N),1.000(P),"1.65,1.65,1.66,1.08,1.07,1.08(T,T,T,T,T,T)",0.0000(T),0.065,-2.684288,6.02,2.35,-0.119000,-0.074000,-0.870000,0.001000,0.000000,0.000000,8.707
synonymous_variant,LMO7DN,SILENT,NM_001257995.1:p.Ser18Ser/c.54C>T,tcC/tcT,LOW,,0.470847,0.2649,rs9600567,,,,,,chr13,76445316,76445316,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser18Ser/c.54C>T|122|LMO7DN|protein_coding|CODING|NM_001257995.1|1|1),HepG2:H3K27me3,,,,0.5787,0.4222,0.5398,,,,,,,,,,,,,,,,,,,
synonymous_variant,IRG1,SILENT,NM_001258406.1:p.Ser322Ser/c.966G>A,tcG/tcA,LOW,,0.00978435,0,rs7995462,,,,,,chr13,77531652,77531652,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser322Ser/c.966G>A|477|IRG1|protein_coding|CODING|NM_001258406.1|4|1|WARNING_TRANSCRIPT_NO_START_CODON),,,,,0.001,0.0072,0.0278,,,,,,,,,,,,,,,,,,,
synonymous_variant,CLN5,SILENT,NM_006493.2:p.Gly24Gly/c.72A>G,ggA/ggG,LOW,COSM3749252(1),0.112021,0.1488,rs7987664,,,,,,chr13,77566158,77566158,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly24Gly/c.72A>G|407|CLN5|protein_coding|CODING|NM_006493.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,K562:ATF3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,CD4:H3K36ac,GM12878:TAF1,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,HeLa-S3:E2F6",,RCV000081418.3,,0.0562,0.1268,0.0388,0.07,0.13,0.03,,,,,,,,,,,,,,,,
missense_variant,CLN5,MISSENSE,NM_006493.2:p.Lys368Arg/c.1103A>G,aAa/aGa,MODERATE,COSM3753745(2),0.244609,0.2798,rs1800209,1(T),0.001(B),-1.255(N),-0.9877(T),,chr13,77574983,77574983,A,G,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys368Arg/c.1103A>G|407|CLN5|protein_coding|CODING|NM_006493.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116751.2,,0.0838,0.2003,0.0974,0.19,0.40,0.08,,0.000002(N),0.000(P),-2.34(D),0.0000(T),0.054,-0.356551,5.84,5.0,-0.128000,0.839000,3.797000,0.513000,0.996000,1.000000,7.2115
synonymous_variant,MYCBP2,SILENT,NM_015057.4:p.Leu1777Leu/c.5331G>A,ttG/ttA,LOW,,0.55611,0.5685,rs4885445,,,,,,chr13,77751892,77751892,C,T,hom,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu1777Leu/c.5331G>A|4678|MYCBP2|protein_coding|CODING|NM_015057.4|35|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.5368,0.7709,0.7435,0.62,0.37,0.75,,,,,,,,,,,,,,,,
synonymous_variant,SCEL,SILENT,NM_144777.2:p.Ser174Ser/c.522C>T,tcC/tcT,LOW,,0.991214,1,rs678047,,,,,,chr13,78146301,78146301,C,T,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser174Ser/c.522C>T|668|SCEL|protein_coding|CODING|NM_003843.3|9|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser174Ser/c.522C>T|688|SCEL|protein_coding|CODING|NM_144777.2|9|1),intron_variant(MODIFIER|||c.479+2715C>T|646|SCEL|protein_coding|CODING|NM_001160706.1|8|1)","HUVEC:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3",,,,1,0.9942,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SCEL,SILENT,NM_144777.2:p.Leu660Leu/c.1980A>G,ctA/ctG,LOW,COSM147703(1),0.41234,0.1825,rs1053985,,,,,,chr13,78216873,78216873,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu618Leu/c.1854A>G|646|SCEL|protein_coding|CODING|NM_001160706.1|30|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu640Leu/c.1920A>G|668|SCEL|protein_coding|CODING|NM_003843.3|31|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu660Leu/c.1980A>G|688|SCEL|protein_coding|CODING|NM_144777.2|32|1)",NHEK:H3K36me3,,,,0.4775,0.5562,0.6362,0.52,0.33,0.61,,,,,,,,,,,,,,,,
synonymous_variant,EDNRB,SILENT,NM_001201397.1:p.Leu367Leu/c.1101A>G,ctA/ctG,LOW,COSM3753748(1),0.544728,0.3512,rs386483117,,,,,,chr13,78475313,78475313,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu277Leu/c.831A>G|442|EDNRB|protein_coding|CODING|NM_000115.3|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu277Leu/c.831A>G|442|EDNRB|protein_coding|CODING|NM_001122659.2|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu367Leu/c.1101A>G|532|EDNRB|protein_coding|CODING|NM_001201397.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu277Leu/c.831A>G|436|EDNRB|protein_coding|CODING|NM_003991.3|4|1),intron_variant(MODIFIER|||n.1695-6514T>C||EDNRB-AS1||NON_CODING|NR_103853.1|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3",,,,0.5685,0.5764,0.6412,0.60,0.57,0.61,,,,,,,,,,,,,,,,
synonymous_variant,EDNRB,SILENT,NM_001201397.1:p.Ser274Ser/c.822T>C,tcT/tcC,LOW,,0.983826,0.998,rs5348,,,,,,chr13,78477674,78477674,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser184Ser/c.552T>C|442|EDNRB|protein_coding|CODING|NM_000115.3|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser184Ser/c.552T>C|442|EDNRB|protein_coding|CODING|NM_001122659.2|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser274Ser/c.822T>C|532|EDNRB|protein_coding|CODING|NM_001201397.1|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser184Ser/c.552T>C|436|EDNRB|protein_coding|CODING|NM_003991.3|2|1),intron_variant(MODIFIER|||n.1695-4153A>G||EDNRB-AS1||NON_CODING|NR_103853.1|6|1)","IMR90:H3K36me3,NHEK:H3K27me3",,,,0.9949,0.9885,0.998,0.98,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RBM26,SILENT,NM_001286631.1:p.Arg880Arg/c.2640A>C,cgA/cgC,LOW,,0.028754,0.001,rs35724140,,,,,,chr13,79911336,79911336,T,G,het,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg880Arg/c.2640A>C|1009|RBM26|protein_coding|CODING|NM_001286631.1|19|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg854Arg/c.2562A>C|983|RBM26|protein_coding|CODING|NM_001286632.1|18|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg851Arg/c.2553A>C|980|RBM26|protein_coding|CODING|NM_022118.4|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0327,0.0086,0.004,0.03,0.08,0.01,,,,,,,,,,,,,,,,
synonymous_variant,RBM26,SILENT,NM_001286631.1:p.Val364Val/c.1092A>G,gtA/gtG,LOW,COSM3753752(1),0.467851,0.2698,rs7327603,,,,,,chr13,79940811,79940811,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val364Val/c.1092A>G|1009|RBM26|protein_coding|CODING|NM_001286631.1|7|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val364Val/c.1092A>G|983|RBM26|protein_coding|CODING|NM_001286632.1|7|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val364Val/c.1092A>G|980|RBM26|protein_coding|CODING|NM_022118.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5481,0.3732,0.506,0.53,0.57,0.52,,,,,,,,,,,,,,,,
missense_variant,SPRY2,MISSENSE,NM_005842.2:p.Pro106Ser/c.316C>T,Cct/Tct,MODERATE,COSM3753753(2),0.286741,0.4345,rs504122,0.2(T),0.001(B),2.045(M),-0.9736(T),,chr13,80911525,80911525,G,A,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro106Ser/c.316C>T|315|SPRY2|protein_coding|CODING|NM_005842.2|2|1),"NHEK:H3K9ac,H1ESC:H3K36me3,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.3108,0.4539,0.3529,0.26,0.08,0.36,,0.000333(N),0.997(P),"0.42,0.42,0.42(T,T,T)",0.0000(T),0.038,1.009882,5.48,0.638,0.655000,-0.211000,0.958000,0.952000,0.051000,0.534000,4.6416
synonymous_variant,SLITRK6,SILENT,NM_032229.2:p.Asn741Asn/c.2223C>T,aaC/aaT,LOW,,,,,,,,,,chr13,86368421,86368421,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn741Asn/c.2223C>T|841|SLITRK6|protein_coding|CODING|NM_032229.2|2|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLITRK6,SILENT,NM_032229.2:p.Leu508Leu/c.1524G>A,ttG/ttA,LOW,COSM1367972(2),0.75,0.6964,rs3825413,,,,,,chr13,86369120,86369120,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu508Leu/c.1524G>A|841|SLITRK6|protein_coding|CODING|NM_032229.2|2|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6861,0.6542,0.7555,0.77,0.86,0.72,,,,,,,,,,,,,,,,
synonymous_variant,GPR180,SILENT,NM_180989.5:p.Thr284Thr/c.852G>A,acG/acA,LOW,COSM3753758(2),0.165735,0.2728,rs12429818,,,,,,chr13,95273447,95273447,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr284Thr/c.852G>A|440|GPR180|protein_coding|CODING|NM_180989.5|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2515,0.2839,0.1054,0.09,0.03,0.11,,,,,,,,,,,,,,,,
synonymous_variant,SOX21,SILENT,NM_007084.2:p.Ala140Ala/c.420C>G,gcC/gcG,LOW,COSM4147783(2),0.169129,0.0367,rs9556411,,,,,,chr13,95363884,95363884,G,C,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala140Ala/c.420C>G|276|SOX21|protein_coding|CODING|NM_007084.2|1|1),upstream_gene_variant(MODIFIER||1086|||SOX21-AS1||NON_CODING|NR_046514.1||1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.1022,0.2291,0.2515,,,,,,,,,,,,,,,,,,,
synonymous_variant,SOX21,SILENT,NM_007084.2:p.Leu86Leu/c.258G>C,ctG/ctC,LOW,COSM3723676(2),0.380391,0.4692,rs1060474,,,,,,chr13,95364046,95364046,C,G,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu86Leu/c.258G>C|276|SOX21|protein_coding|CODING|NM_007084.2|1|1),upstream_gene_variant(MODIFIER||924|||SOX21-AS1||NON_CODING|NR_046514.1||1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.317,0.428,0.4692,0.38,0.30,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ABCC4,SILENT,NM_005845.3:p.Lys1116Lys/c.3348G>A,aaG/aaA,LOW,,0.794329,0.7847,rs1751034,,,,,,chr13,95714976,95714976,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1116Lys/c.3348G>A|1325|ABCC4|protein_coding|CODING|NM_005845.3|26|1),"K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8978,0.7536,0.8111,0.80,0.74,0.83,,,,,,,,,,,,,,,,
synonymous_variant,ABCC4,SILENT,NM_005845.3:p.Phe948Phe/c.2844T>C,ttT/ttC,LOW,,0.903554,0.7956,rs1189466,,,,,,chr13,95726541,95726541,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe948Phe/c.2844T>C|1325|ABCC4|protein_coding|CODING|NM_005845.3|23|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9366,0.9553,0.9414,0.95,0.92,0.96,,,,,,,,,,,,,,,,
synonymous_variant,ABCC4,SILENT,NM_005845.3:p.Leu904Leu/c.2712A>G,ttA/ttG,LOW,,0.88778,0.7946,rs1678339,,,,,,chr13,95727780,95727780,T,C,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu904Leu/c.2712A>G|1325|ABCC4|protein_coding|CODING|NM_005845.3|22|1),"GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9366,0.9496,0.9414,0.93,0.86,0.96,,,,,,,,,,,,,,,,
synonymous_variant,ABCC4,SILENT,NM_005845.3:p.Ser323Ser/c.969A>G,tcA/tcG,LOW,COSM147705(2),0.625998,0.5337,rs2274405,,,,,,chr13,95858978,95858978,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser323Ser/c.969A>G|859|ABCC4|protein_coding|CODING|NM_001105515.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser323Ser/c.969A>G|1325|ABCC4|protein_coding|CODING|NM_005845.3|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.5375,0.6282,0.66,0.69,0.65,,,,,,,,,,,,,,,,
synonymous_variant,ABCC4,SILENT,NM_005845.3:p.Arg317Arg/c.951A>G,agA/agG,LOW,COSM147706(2),0.518171,0.5327,rs2274406,,,,,,chr13,95858996,95858996,T,C,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg317Arg/c.951A>G|859|ABCC4|protein_coding|CODING|NM_001105515.1|8|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg317Arg/c.951A>G|1325|ABCC4|protein_coding|CODING|NM_005845.3|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.4957,0.6193,0.56,0.39,0.65,,,,,,,,,,,,,,,,
synonymous_variant,ABCC4,SILENT,NM_005845.3:p.Ile223Ile/c.669T>C,atT/atC,LOW,COSM4147785(1),0.807508,0.8125,rs899494,,,,,,chr13,95861804,95861804,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile223Ile/c.669T>C|859|ABCC4|protein_coding|CODING|NM_001105515.1|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile223Ile/c.669T>C|1325|ABCC4|protein_coding|CODING|NM_005845.3|6|1)","K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7526,0.8501,0.8429,0.83,0.79,0.85,,,,,,,,,,,,,,,,
missense_variant,DZIP1,MISSENSE,NM_198968.3:p.Pro736Ser/c.2206C>T,Ccc/Tcc,MODERATE,COSM147707(3),0.26877,0.1558,rs11070136,0.5(T),"0.008,0.004(B,B)",1.385(L),-0.9351(T),,chr13,96239805,96239805,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro717Ser/c.2149C>T|848|DZIP1|protein_coding|CODING|NM_014934.4|19|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro736Ser/c.2206C>T|867|DZIP1|protein_coding|CODING|NM_198968.3|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2505,0.2248,0.3618,0.33,0.30,0.34,,0.026258(N),1.000(P),"1.46,1.46,1.46,1.46(T,T,T,T)",0.0000(T),0.062,-1.609554,5.34,2.63,0.650000,1.244000,0.739000,0.094000,0.968000,0.995000,4.96
synonymous_variant,UGGT2,SILENT,NM_020121.3:p.Thr1358Thr/c.4074T>C,acT/acC,LOW,COSM1128340(3),0.329073,0.3155,rs11070154,,,,,,chr13,96506664,96506664,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr1358Thr/c.4074T>C|1516|UGGT2|protein_coding|CODING|NM_020121.3|35|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3804,0.2622,0.4394,0.37,0.27,0.42,,,,,,,,,,,,,,,,
missense_variant,UGGT2,MISSENSE,NM_020121.3:p.Met994Leu/c.2980A>C,Atg/Ctg,MODERATE,COSM3999133(2),0.335264,0.3135,rs12876018,0.08(T),0.071(B),1.935(M),-0.9547(T),,chr13,96540204,96540204,T,G,het,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met994Leu/c.2980A>C|1516|UGGT2|protein_coding|CODING|NM_020121.3|26|1),"HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.3517,0.2795,0.4423,0.37,0.29,0.41,,0.001885(N),0.000(P),1.67(T),0.0000(T),0.145,1.933612,5.37,2.86,0.533000,0.314000,0.980000,0.997000,0.995000,1.000000,6.1583
missense_variant,UGGT2,MISSENSE,NM_020121.3:p.Ser328Ala/c.982T>G,Tcc/Gcc,MODERATE,,0.841653,0.9276,rs816142,1(T),"0.002,0.0(B,B)",-1.805(N),-0.9660(T),,chr13,96638636,96638636,A,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser328Ala/c.982T>G|1516|UGGT2|protein_coding|CODING|NM_020121.3|9|1),HSMM:H3K36me3,,,,0.8476,0.7781,0.8728,0.85,0.81,0.88,,0.000213(N),0.000(P),"2.7,2.7(T,T)",0.0000(T),0.04,0.261525,5.54,5.54,-0.121000,1.329000,1.920000,0.996000,1.000000,1.000000,14.8728
synonymous_variant,OXGR1,SILENT,NM_080818.3:p.Leu200Leu/c.600G>A,ctG/ctA,LOW,COSM3753765(2),0.522764,0.4544,rs9284174,,,,,,chr13,97639414,97639414,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu200Leu/c.600G>A|337|OXGR1|protein_coding|CODING|NM_080818.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6166,0.3487,0.5358,0.55,0.57,0.53,,,,,,,,,,,,,,,,
synonymous_variant,RNF113B,SILENT,NM_178861.4:p.Pro105Pro/c.315A>G,ccA/ccG,LOW,,0.75,0.9345,rs628778,,,,,,chr13,98829176,98829176,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro105Pro/c.315A>G|322|RNF113B|protein_coding|CODING|NM_178861.4|1|1),intron_variant(MODIFIER|||c.-24+34145T>C|1076|FARP1|protein_coding|CODING|NM_001286839.1|1|1),intron_variant(MODIFIER|||c.-24+33430T>C|129|FARP1|protein_coding|CODING|NM_001001715.3|1|1),intron_variant(MODIFIER|||c.-24+33430T>C|1045|FARP1|protein_coding|CODING|NM_005766.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K36me3,IMR90:H3K79me2",,,,0.8978,0.8372,0.9274,0.77,0.43,0.94,,,,,,,,,,,,,,,,
missense_variant,FARP1,MISSENSE,NM_001001715.3:p.Thr68Ile/c.203C>T,aCc/aTc,MODERATE,COSM3753767(1),0.376997,0.6171,rs7318267,0(D),0.001(B),0(N),-0.9467(T),,chr13,98896776,98896776,C,T,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr68Ile/c.203C>T|129|FARP1|protein_coding|CODING|NM_001001715.3|3|1),intron_variant(MODIFIER|||c.171+31109C>T|1076|FARP1|protein_coding|CODING|NM_001286839.1|2|1),intron_variant(MODIFIER|||c.171+31109C>T|1045|FARP1|protein_coding|CODING|NM_005766.3|2|1)",HepG2:H3K36me3,,,,0.3793,0.3804,0.3787,0.34,0.23,0.40,,,1.000(P),0.65(T),0.0000(T),0.012,1.160042,3.05,-0.857,-0.282000,-0.241000,0.015000,0.000000,0.000000,0.000000,0.5672
synonymous_variant,FARP1,SILENT,NM_001286839.1:p.Ser1069Ser/c.3207T>C,agT/agC,LOW,,0.502396,0.5625,rs12261,,,,,,chr13,99100547,99100547,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser1069Ser/c.3207T>C|1076|FARP1|protein_coding|CODING|NM_001286839.1|28|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser1038Ser/c.3114T>C|1045|FARP1|protein_coding|CODING|NM_005766.3|27|1),downstream_gene_variant(MODIFIER||1906||431|STK24|protein_coding|CODING|NM_001032296.3||1),downstream_gene_variant(MODIFIER||1906||412|STK24|protein_coding|CODING|NM_001286649.1||1),downstream_gene_variant(MODIFIER||1906||443|STK24|protein_coding|CODING|NM_003576.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4479,0.438,0.5905,0.55,0.49,0.58,,,,,,,,,,,,,,,,
synonymous_variant,STK24,SILENT,NM_003576.4:p.Pro368Pro/c.1104G>A,ccG/ccA,LOW,,0.997804,1,rs4771305,,,,-1.0135(T),,chr13,99112680,99112680,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro356Pro/c.1068G>A|431|STK24|protein_coding|CODING|NM_001032296.3|9|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro337Pro/c.1011G>A|412|STK24|protein_coding|CODING|NM_001286649.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro368Pro/c.1104G>A|443|STK24|protein_coding|CODING|NM_003576.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,0.000(P),,0.0000(T),.,0.894342,4.51,2.07,-0.490000,0.136000,1.030000,0.968000,1.000000,1.000000,4.9825
synonymous_variant,SLC15A1,SILENT,NM_005073.3:p.Asn509Asn/c.1527C>T,aaC/aaT,LOW,COSM3688798(1),0.0770767,0.002,rs8187832,,,,,,chr13,99340771,99340771,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn509Asn/c.1527C>T|708|SLC15A1|protein_coding|CODING|NM_005073.3|19|1),"HUVEC:H3K27me3,H1ESC:H4K5ac,IMR90:H3K27me3",,,,0.0511,0.036,0.0199,0.09,0.19,0.04,,,,,,,,,,,,,,,,
synonymous_variant,SLC15A1,SILENT,NM_005073.3:p.Ala449Ala/c.1347T>C,gcT/gcC,LOW,,0.633187,0.3433,rs1339067,,,,,,chr13,99356612,99356612,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala449Ala/c.1347T>C|708|SLC15A1|protein_coding|CODING|NM_005073.3|17|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.5552,0.7349,0.6342,0.71,0.82,0.66,,,,,,,,,,,,,,,,
synonymous_variant,DOCK9,SILENT,NM_015296.2:p.Val159Val/c.477C>T,gtC/gtT,LOW,COSM1368203(3),0.167532,0.2063,rs12428661,,,,,,chr13,99575568,99575568,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val158Val/c.474C>T|2066|DOCK9|protein_coding|CODING|NM_001130048.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val159Val/c.477C>T|1254|DOCK9|protein_coding|CODING|NM_001130049.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val158Val/c.474C>T|1253|DOCK9|protein_coding|CODING|NM_001130050.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val159Val/c.477C>T|2067|DOCK9|protein_coding|CODING|NM_015296.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.2106,0.1729,0.1899,0.14,0.09,0.16,,,,,,,,,,,,,,,,
synonymous_variant,GPR18,SILENT,NM_001098200.1:p.Asn262Asn/c.786C>T,aaC/aaT,LOW,,0.108427,0.0595,rs3742130,,,,,,chr13,99907341,99907341,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn262Asn/c.786C>T|331|GPR18|protein_coding|CODING|NM_001098200.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn262Asn/c.786C>T|331|GPR18|protein_coding|CODING|NM_005292.3|3|1),intron_variant(MODIFIER|||n.45-39043C>T||MIR548AN||NON_CODING|NR_039765.1|4|1),intron_variant(MODIFIER|||c.284+16533G>A|309|UBAC2|protein_coding|CODING|NM_177967.3|2|1),intron_variant(MODIFIER|||c.389+10463G>A|344|UBAC2|protein_coding|CODING|NM_001144072.1|4|1),intron_variant(MODIFIER|||n.1017+10463G>A||UBAC2||CODING|NR_026644.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1053,0.1499,0.2217,0.17,0.08,0.22,,,,,,,,,,,,,,,,
synonymous_variant,GPR183,SILENT,NM_004951.4:p.Val74Val/c.222G>T,gtG/gtT,LOW,,0.256789,0.1875,rs2230342,,,,,,chr13,99948178,99948178,C,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val74Val/c.222G>T|361|GPR183|protein_coding|CODING|NM_004951.4|2|1),intron_variant(MODIFIER|||n.45-79880G>T||MIR548AN||NON_CODING|NR_039765.1|4|1),intron_variant(MODIFIER|||c.285-18173C>A|309|UBAC2|protein_coding|CODING|NM_177967.3|2|1),intron_variant(MODIFIER|||c.390-18173C>A|344|UBAC2|protein_coding|CODING|NM_001144072.1|4|1),intron_variant(MODIFIER|||n.1018-18173C>A||UBAC2||CODING|NR_026644.1|4|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:EBF,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2802,0.2421,0.3748,0.33,0.25,0.37,,,,,,,,,,,,,,,,
missense_variant,CLYBL,MISSENSE,NM_206808.3:p.Ile241Val/c.721A>G,Ata/Gta,MODERATE,COSM1179725(1),0.82508,0.877,rs3783185,0.16(T),"0.437,0.232(B,B)",1.91(M),-1.0453(T),,chr13,100518580,100518580,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile241Val/c.721A>G|340|CLYBL|protein_coding|CODING|NM_206808.3|6|1),intron_variant(MODIFIER|||n.83+90757T>C||LOC101927437||NON_CODING|NR_120421.1|1|1),non_coding_exon_variant(MODIFIER|||n.753A>G||CLYBL||CODING|NR_104592.1|6|1)",CD4:H3K36me3,,,,0.8067,0.7536,0.7356,0.76,0.87,0.71,,0.000000(N),0.000(P),"1.37,1.37,1.37,1.37,1.37,0.48(T,T,T,T,T,T)",0.0000(T),0.122,2.772797,5.66,3.17,0.477000,0.479000,4.849000,0.985000,0.987000,1.000000,10.0377
synonymous_variant,TMTC4,SILENT,NM_032813.3:p.Ala429Ala/c.1287A>G,gcA/gcG,LOW,,0.83766,0.9901,rs946838,,,,,,chr13,101287365,101287365,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala410Ala/c.1230A>G|741|TMTC4|protein_coding|CODING|NM_001079669.2|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala299Ala/c.897A>G|630|TMTC4|protein_coding|CODING|NM_001286453.1|8|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala429Ala/c.1287A>G|760|TMTC4|protein_coding|CODING|NM_032813.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8722,0.889,0.8708,0.81,0.69,0.87,,,,,,,,,,,,,,,,
synonymous_variant,TMTC4,SILENT,NM_032813.3:p.Pro416Pro/c.1248C>T,ccC/ccT,LOW,COSM3753557(1),0.265775,0.3343,rs2297943,,,,,,chr13,101287404,101287404,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro397Pro/c.1191C>T|741|TMTC4|protein_coding|CODING|NM_001079669.2|10|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro286Pro/c.858C>T|630|TMTC4|protein_coding|CODING|NM_001286453.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro416Pro/c.1248C>T|760|TMTC4|protein_coding|CODING|NM_032813.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3384,0.3617,0.3598,0.25,0.09,0.34,,,,,,,,,,,,,,,,
synonymous_variant,NALCN,SILENT,NM_052867.2:p.Thr1238Thr/c.3714C>T,acC/acT,LOW,COSM3753558(3),0.326078,0.506,rs17677552,,,,,,chr13,101735211,101735211,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1238Thr/c.3714C>T|1738|NALCN|protein_coding|CODING|NM_052867.2|33|1),,,,,0.4315,0.2536,0.3668,0.28,0.13,0.35,,,,,,,,,,,,,,,,
synonymous_variant,NALCN,SILENT,NM_052867.2:p.Leu1190Leu/c.3570T>C,ctT/ctC,LOW,COSM3753559(1),0.724641,0.622,rs686141,,,,,,chr13,101736075,101736075,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1190Leu/c.3570T>C|1738|NALCN|protein_coding|CODING|NM_052867.2|31|1),HepG2:H3K27me3,,,,0.7607,0.5418,0.7117,0.76,0.84,0.72,,,,,,,,,,,,,,,,
synonymous_variant,ITGBL1,SILENT,NM_004791.2:p.Ser47Ser/c.141G>C,tcG/tcC,LOW,COSM4147555(1),0.273163,0.2202,rs2297700,,,,,,chr13,102106276,102106276,G,C,hom,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser47Ser/c.141G>C|445|ITGBL1|protein_coding|CODING|NM_001271755.1|2|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser47Ser/c.141G>C|494|ITGBL1|protein_coding|CODING|NM_004791.2|2|1),intron_variant(MODIFIER|||c.-108+994G>C|353|ITGBL1|protein_coding|CODING|NM_001271754.1|1|1)","NHEK:CTCF,NHEK:H3K9ac,HUVEC:H3K4me3,HSMM:H3K27ac,HSMM:H3K4me2,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,NHEK:H3K4me2,HUVEC:H3K27ac,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.3384,0.3631,0.4503,,,,,,,,,,,,,,,,,,,
synonymous_variant,ITGBL1,SILENT,NM_004791.2:p.Asp187Asp/c.561C>T,gaC/gaT,LOW,COSM3753561(1),0.132788,0.001,rs3916912,,,,,,chr13,102227872,102227872,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp46Asp/c.138C>T|353|ITGBL1|protein_coding|CODING|NM_001271754.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp138Asp/c.414C>T|445|ITGBL1|protein_coding|CODING|NM_001271755.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp94Asp/c.282C>T|401|ITGBL1|protein_coding|CODING|NM_001271756.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|494|ITGBL1|protein_coding|CODING|NM_004791.2|4|1)",HSMM:H3K36me3,,,,0.0665,0.1081,0.1809,0.19,0.22,0.18,,,,,,,,,,,,,,,,
synonymous_variant,TPP2,SILENT,NM_003291.2:p.Ser260Ser/c.780T>C,agT/agC,LOW,COSM3999002(1),0.473642,0.4474,rs2230854,,,,,,chr13,103275386,103275386,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser260Ser/c.780T>C|1249|TPP2|protein_coding|CODING|NM_003291.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3712,0.3804,0.4742,0.52,0.60,0.48,,,,,,,,,,,,,,,,
synonymous_variant,METTL21C,SILENT,NM_001010977.2:p.Leu109Leu/c.325T>C,Ttg/Ctg,LOW,COSM4147558(1),0.478435,0.4544,rs660207,,,,,,chr13,103339365,103339365,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu109Leu/c.325T>C|264|METTL21C|protein_coding|CODING|NM_001010977.2|3|1),IMR90:H3K27me3,,,,0.3742,0.3847,0.4712,0.53,0.62,0.48,,,,,,,,,,,,,,,,
missense_variant,METTL21C,MISSENSE,NM_001010977.2:p.Gly15Arg/c.43G>C,Ggg/Cgg,MODERATE,COSM3773659(2),0.740415,0.871,rs2390760,0.51(T),0.001(B),0(N),-1.0150(T),,chr13,103346806,103346806,C,G,het,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly15Arg/c.43G>C|264|METTL21C|protein_coding|CODING|NM_001010977.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7352,0.6772,0.6064,0.66,0.76,0.61,,0.180102(N),1.000(P),2.48(T),0.0000(T),0.049,0.168310,4.03,0.201,0.650000,-0.008000,-0.239000,0.010000,0.000000,0.000000,7.7642
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Lys6544Glu/c.19630A>G,Aaa/Gaa,MODERATE,,0.33746,0.1587,rs9554897,0.9(T),0.016(B),0.205(N),-0.9362(T),,chr13,103383417,103383417,T,C,hom,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys6544Glu/c.19630A>G|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.4264,0.3545,0.3877,0.39,0.36,0.40,,,1.000(P),4.0(T),0.0000(T),0.043,-0.782461,5.53,-6.17,-0.250000,-1.216000,-1.003000,0.017000,0.000000,0.000000,9.4401
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Leu6011Pro/c.18032T>C,cTa/cCa,MODERATE,,0.995807,1,rs6491707,0.13(T),0.0(B),0(N),-1.0650(T),,chr13,103385015,103385015,A,G,hom,missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu6011Pro/c.18032T>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,1.00,0.99,1.00,,,1.000(P),3.57(T),0.0000(T),0.101,-0.769027,2.24,1.34,-0.368000,0.061000,-0.049000,0.202000,0.004000,0.000000,3.5299
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Phe5916Leu/c.17748T>G,ttT/ttG,MODERATE,,0.972843,1,rs7335290,0.61(T),0.0(B),0(N),-1.0636(T),,chr13,103385299,103385299,A,C,hom,missense_variant(MODERATE|MISSENSE|ttT/ttG|p.Phe5916Leu/c.17748T>G|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9856,1,0.97,0.92,1.00,,,1.000(P),4.17(T),0.0000(T),0.029,-1.375742,2.89,-5.78,-0.366000,-2.514000,-3.594000,0.012000,0.001000,0.000000,3.5972
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Asn5750Ser/c.17249A>G,aAt/aGt,MODERATE,,0.972843,1,rs7983175,1(T),0.0(B),0(N),-0.9850(T),,chr13,103385798,103385798,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn5750Ser/c.17249A>G|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9856,1,0.97,0.92,1.00,,,1.000(P),3.99(T),0.0000(T),0.006,-1.229111,3.22,1.46,-0.294000,0.066000,-0.672000,0.050000,0.000000,0.000000,5.4186
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Arg5644Thr/c.16931G>C,aGg/aCg,MODERATE,,0.971246,1,rs7982465,0.27(T),0.031(B),0(N),-1.0689(T),,chr13,103386116,103386116,C,G,hom,missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg5644Thr/c.16931G>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9841,1,0.97,0.91,1.00,,,1.000(P),3.7(T),0.0000(T),0.132,0.616661,3.34,-0.571,-0.471000,-0.098000,0.132000,0.007000,0.001000,0.001000,3.0131
synonymous_variant,CCDC168,SILENT,NM_001146197.1:p.His5588His/c.16764T>C,caT/caC,LOW,,0.971446,1,rs7982670,,,,,,chr13,103386283,103386283,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His5588His/c.16764T>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9841,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Ser4943Pro/c.14827T>C,Tct/Cct,MODERATE,,0.991014,1,rs9300758,0.27(T),0.0(B),0.345(N),-1.0741(T),,chr13,103388220,103388220,A,G,hom,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser4943Pro/c.14827T>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,1,0.99,0.97,1.00,,0.957618(N),1.000(P),3.84(T),0.0000(T),0.048,0.906789,3.52,-2.28,-1.063000,-0.788000,-0.756000,0.022000,0.000000,0.000000,1.1961
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Val3805Ile/c.11413G>A,Gta/Ata,MODERATE,,0.699681,0.5913,rs7322112,,,,,,chr13,103391634,103391634,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val3805Ile/c.11413G>A|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8333,0.7478,0.826,0.73,0.57,0.80,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Thr3015Ile/c.9044C>T,aCt/aTt,MODERATE,,0.694089,0.5913,rs1449707,,,,,,chr13,103394003,103394003,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr3015Ile/c.9044C>T|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8323,0.7493,0.826,0.73,0.56,0.80,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Thr2812Pro/c.8434A>C,Aca/Cca,MODERATE,,0.694688,0.5913,rs9585986,,,,,,chr13,103394613,103394613,T,G,het,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr2812Pro/c.8434A>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8323,0.7493,0.827,0.73,0.56,0.80,,,,,,,,,,,,,,,,
synonymous_variant,CCDC168,SILENT,NM_001146197.1:p.Thr2777Thr/c.8331A>G,acA/acG,LOW,,0.694688,0.5913,rs9585987,,,,,,chr13,103394716,103394716,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr2777Thr/c.8331A>G|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8323,0.7493,0.826,0.73,0.56,0.80,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Gly2410Arg/c.7228G>A,Ggg/Agg,MODERATE,,0.997604,1,rs1375720,,,,,,chr13,103395819,103395819,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly2410Arg/c.7228G>A|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Glu2111Gln/c.6331G>C,Gag/Cag,MODERATE,,0.694688,0.5913,rs6491708,,,,,,chr13,103396716,103396716,C,G,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu2111Gln/c.6331G>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8323,0.7493,0.827,0.73,0.56,0.80,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Ala1822Pro/c.5464G>C,Gca/Cca,MODERATE,,0.694688,0.5923,rs386484094,,,,,,chr13,103397583,103397583,C,G,het,missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala1822Pro/c.5464G>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.8323,0.7493,0.826,0.73,0.56,0.80,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Asn1704His/c.5110A>C,Aat/Cat,MODERATE,,0.273562,0.4087,rs9300759,,,,,,chr13,103397937,103397937,T,G,het,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn1704His/c.5110A>C|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.1677,0.2406,0.174,0.24,0.33,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CCDC168,SILENT,NM_001146197.1:p.Ser988Ser/c.2964C>T,agC/agT,LOW,COSN164547,0.485224,0.4702,rs1026158,,,,,,chr13,103400083,103400083,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser988Ser/c.2964C>T|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.6646,0.6513,0.674,0.53,0.23,0.66,,,,,,,,,,,,,,,,
missense_variant,CCDC168,MISSENSE,NM_001146197.1:p.Pro773Leu/c.2318C>T,cCa/cTa,MODERATE,,0.718251,0.5883,rs12583104,,,,,,chr13,103400729,103400729,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro773Leu/c.2318C>T|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.8323,0.7536,0.826,0.75,0.65,0.80,,,,,,,,,,,,,,,,
synonymous_variant,CCDC168,SILENT,NM_001146197.1:p.Thr175Thr/c.525G>A,acG/acA,LOW,,0.69349,0.5873,rs9300760,,,,,,chr13,103402522,103402522,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr175Thr/c.525G>A|7081|CCDC168|protein_coding|CODING|NM_001146197.1|4|1),,,,,0.8323,0.7493,0.826,0.73,0.56,0.80,,,,,,,,,,,,,,,,
missense_variant,KDELC1,MISSENSE,NM_024089.2:p.Ile114Val/c.340A>G,Att/Gtt,MODERATE,,0.417532,0.4821,rs1047740,1(T),0.001(B),-1.245(N),-0.9366(T),,chr13,103449202,103449202,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile114Val/c.340A>G|502|KDELC1|protein_coding|CODING|NM_024089.2|2|1),HepG2:H3K36me3,,,,0.2249,0.2752,0.2316,0.37,0.65,0.22,,0.000036(N),0.996(P),-1.53(D),0.0000(T),0.032,-0.171246,5.69,4.85,-0.119000,0.884000,0.957000,0.971000,0.997000,0.996000,10.0883
synonymous_variant,BIVM-ERCC5,SILENT,NM_001204425.1:p.His500His/c.1500T>C,caT/caC,LOW,COSM3753565(2),0.493011,0.25,rs1047768,,,,,,chr13,103504517,103504517,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His46His/c.138T>C|1186|ERCC5|protein_coding|CODING|NM_000123.3|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His500His/c.1500T>C|1640|BIVM-ERCC5|protein_coding|CODING|NM_001204425.1|10|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116990.2,,0.4663,0.3991,0.5845,0.61,0.66,0.59,,,,,,,,,,,,,,,,
missense_variant,BIVM-ERCC5,MISSENSE,NM_001204425.1:p.Met708Val/c.2122A>G,Atg/Gtg,MODERATE,,0.01877,0,rs1047769,0.11(T),"0.853,0.365,0.297(P,B,B)",2.095(M),-1.1347(T),,chr13,103513944,103513944,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met254Val/c.760A>G|1186|ERCC5|protein_coding|CODING|NM_000123.3|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met708Val/c.2122A>G|1640|BIVM-ERCC5|protein_coding|CODING|NM_001204425.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116993.3,,0.0389,0.0231,0.0368,0.03,0.01,0.04,,0.000000(D),1.000(D),2.15(T),0.0261(T),0.435,2.888238,5.59,5.59,0.455000,2.121000,2.931000,0.995000,1.000000,1.000000,8.1555
missense_variant,BIVM-ERCC5,MISSENSE,NM_001204425.1:p.Gly1507Arg/c.4519G>C,Gga/Cga,MODERATE,,0.998203,1,rs9514066,0.54(T),0.454(P),1.87(L),-0.8555(T),,chr13,103527849,103527849,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly1053Arg/c.3157G>C|1186|ERCC5|protein_coding|CODING|NM_000123.3|15|1),missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly1507Arg/c.4519G>C|1640|BIVM-ERCC5|protein_coding|CODING|NM_001204425.1|23|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.059243(N),1.000(P),"3.59,3.29(T,T)",0.0000(T),0.278,3.305158,5.14,4.28,0.650000,1.267000,3.255000,0.841000,0.229000,0.915000,5.6879
missense_variant,BIVM-ERCC5,MISSENSE,NM_001204425.1:p.Gly1534Arg/c.4600G>C,Gga/Cga,MODERATE,,0.997204,1,rs9514067,0.54(T),0.0(B),0.41(N),-1.0038(T),,chr13,103527930,103527930,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly1080Arg/c.3238G>C|1186|ERCC5|protein_coding|CODING|NM_000123.3|15|1),missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly1534Arg/c.4600G>C|1640|BIVM-ERCC5|protein_coding|CODING|NM_001204425.1|23|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9949,1,1,1.00,0.99,1.00,,0.020117(N),1.000(P),"3.65,3.33(T,T)",0.0000(T),0.056,-0.016166,4.51,0.141,-0.219000,0.061000,-0.373000,0.025000,0.000000,0.000000,7.9959
missense_variant,BIVM-ERCC5,MISSENSE,NM_001204425.1:p.Asp1558His/c.4672G>C,Gat/Cat,MODERATE,COSM3753566(2),0.361422,0.4623,rs17655,0.16(T),0.819(P),1.87(L),-0.9029(T),,chr13,103528002,103528002,G,C,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp1104His/c.3310G>C|1186|ERCC5|protein_coding|CODING|NM_000123.3|15|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp1558His/c.4672G>C|1640|BIVM-ERCC5|protein_coding|CODING|NM_001204425.1|23|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116992.3,,0.2485,0.2709,0.2495,0.31,0.46,0.23,,0.298701(N),0.000(P),"3.27,3.05(T,T)",0.0000(T),0.163,3.624019,4.96,4.11,0.650000,1.221000,3.757000,0.012000,0.047000,1.000000,13.3474
missense_variant,SLC10A2,MISSENSE,NM_000452.2:p.Ser171Ala/c.511T>G,Tct/Gct,MODERATE,COSM4147563(1),0.840256,0.7252,rs188096,1(T),0.002(B),-0.035(N),-0.9516(T),,chr13,103705044,103705044,A,C,hom,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser171Ala/c.511T>G|348|SLC10A2|protein_coding|CODING|NM_000452.2|3|1),,,,,0.8476,0.7824,0.8718,0.89,0.93,0.87,,0.000006(N),0.999(P),2.95(T),0.0000(T),0.169,-0.966029,5.75,5.75,-0.121000,1.453000,1.222000,0.027000,0.930000,0.733000,9.7558
missense_variant,DAOA,MISSENSE,NM_172370.4:p.Arg30Lys/c.89G>A,aGg/aAg,MODERATE,COSM3753569(1),0.361821,0.626,rs2391191,0.73(T),0.092(B),0.55(N),-0.9426(T),,chr13,106119446,106119446,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg30Lys/c.89G>A|153|DAOA|protein_coding|CODING|NM_172370.4|2|1),5_prime_UTR_variant(MODIFIER||5501|c.-105G>A|125|DAOA|protein_coding|CODING|NM_001161812.1|2|1),5_prime_UTR_variant(MODIFIER||5521|c.-125G>A|82|DAOA|protein_coding|CODING|NM_001161814.1|3|1),intron_variant(MODIFIER|||n.506-677C>T||DAOA-AS1||NON_CODING|NR_040247.1|4|1)",,,RCV000084735.1,,0.4305,0.4049,0.3877,0.29,0.11,0.37,,,1.000(P),1.58(T),0.0000(T),0.064,1.888219,3.17,-0.301,0.557000,-0.095000,0.160000,0.249000,0.000000,0.000000,0.7383
synonymous_variant,DAOA,SILENT,NM_001161812.1:p.Thr61Thr/c.183C>T,acC/acT,LOW,,0.217053,0.1081,rs386613138,,,,,,chr13,106142235,106142235,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr61Thr/c.183C>T|125|DAOA|protein_coding|CODING|NM_001161812.1|4|1),intron_variant(MODIFIER|||c.69-15C>T|82|DAOA|protein_coding|CODING|NM_001161814.1|4|1),intron_variant(MODIFIER|||c.282-15C>T|153|DAOA|protein_coding|CODING|NM_172370.4|3|1),non_coding_exon_variant(MODIFIER|||n.395G>A||DAOA-AS1||NON_CODING|NR_040247.1|4|1)",,,,,0.2127,0.2507,0.2763,0.26,0.22,0.29,,,,,,,,,,,,,,,,
synonymous_variant,EFNB2,SILENT,NM_004093.3:p.Gly309Gly/c.927C>G,ggC/ggG,LOW,,1,1,rs7995379,,,,,,chr13,107145463,107145463,G,C,hom,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly309Gly/c.927C>G|333|EFNB2|protein_coding|CODING|NM_004093.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,FAM155A,MISSENSE,NM_001080396.2:p.Lys384Asn/c.1152A>T,aaA/aaT,MODERATE,,0.00658946,0,rs79124416,0.21(T),0.022(B),0.55(N),-1.0111(T),,chr13,107823070,107823070,T,A,het,missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys384Asn/c.1152A>T|458|FAM155A|protein_coding|CODING|NM_001080396.2|3|1),IMR90:H3K36me3,,,,0.0031,0.0346,0.006,0.00,0.00,0.01,,0.419637(N),1.000(N),2.67(T),0.0079(T),0.051,-0.360324,5.52,-7.89,-1.141000,-1.335000,0.209000,0.000000,0.000000,0.001000,7.0612
synonymous_variant,MYO16,SILENT,NM_001198950.1:p.Val1638Val/c.4914T>C,gtT/gtC,LOW,COSM4147569(2),0.968051,1,rs28705148,,,,,,chr13,109793474,109793474,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val1638Val/c.4914T>C|1880|MYO16|protein_coding|CODING|NM_001198950.1|32|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val1616Val/c.4848T>C|1858|MYO16|protein_coding|CODING|NM_015011.1|32|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9914,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MYO16,SILENT,NM_001198950.1:p.Ala1720Ala/c.5160A>C,gcA/gcC,LOW,COSM4147570(1),0.95008,0.999,rs7986595,,,,,,chr13,109793720,109793720,A,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala1720Ala/c.5160A>C|1880|MYO16|protein_coding|CODING|NM_001198950.1|32|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala1698Ala/c.5094A>C|1858|MYO16|protein_coding|CODING|NM_015011.1|32|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9885,1,0.94,0.83,1.00,,,,,,,,,,,,,,,,
missense_variant,IRS2,MISSENSE,NM_003749.2:p.Gly1057Asp/c.3170G>A,gGc/gAc,MODERATE,COSM3753571(2),0.283347,0.3929,rs1805097,0.21(T),0.027(B),1.39(L),-0.9598(T),,chr13,110435231,110435231,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly1057Asp/c.3170G>A|1338|IRS2|protein_coding|CODING|NM_003749.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,CD4:PolII,HeLa-S3:H3K4me3",,RCV000009368.1,,0.3027,0.4107,0.3161,0.23,0.12,0.29,,,1.000(P),0.81(T),0.0000(T),0.205,0.365448,4.13,2.11,0.644000,0.922000,1.021000,0.006000,0.002000,0.002000,7.8389
synonymous_variant,IRS2,SILENT,NM_003749.2:p.Pro829Pro/c.2487C>T,ccC/ccT,LOW,COSM432100(6),0.22504,0.2173,rs12853546,,,,,,chr13,110435914,110435914,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro829Pro/c.2487C>T|1338|IRS2|protein_coding|CODING|NM_003749.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HMEC:H3K4me3,H1ESC:CTCF",,,,0.2812,0.1542,0.2565,0.21,0.19,0.22,,,,,,,,,,,,,,,,
synonymous_variant,IRS2,SILENT,NM_003749.2:p.Cys816Cys/c.2448T>C,tgT/tgC,LOW,COSM432101(3),0.563898,0.4514,rs4773092,,,,,,chr13,110435953,110435953,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys816Cys/c.2448T>C|1338|IRS2|protein_coding|CODING|NM_003749.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HMEC:H3K4me3,H1ESC:CTCF",,,,0.5143,0.7089,0.5905,0.60,0.61,0.60,,,,,,,,,,,,,,,,
synonymous_variant,IRS2,SILENT,NM_003749.2:p.Ser723Ser/c.2169C>T,agC/agT,LOW,COSM3749236(2),0.559505,0.4514,rs3742210,,,,,,chr13,110436232,110436232,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser723Ser/c.2169C>T|1338|IRS2|protein_coding|CODING|NM_003749.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,HeLa-S3:H3K4me3,HSMM:H3K4me3,HMEC:H3K4me3",,,,0.5082,0.7104,0.5875,0.64,0.64,0.64,,,,,,,,,,,,,,,,
missense_variant,COL4A1,MISSENSE,NM_001845.4:p.Gln1334His/c.4002A>C,caA/caC,MODERATE,COSM3736082(2),0.288339,0.2629,rs3742207,0.17(T),0.253(B),0.98(L),-1.0980(T),,chr13,110818598,110818598,T,G,het,missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln1334His/c.4002A>C|1669|COL4A1|protein_coding|CODING|NM_001845.4|45|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",Arterial_stiffness,,,0.316,0.2334,0.325,0.32,0.28,0.34,,0.000024(D),0.000(P),-3.2(D),0.0000(T),0.075,0.526111,4.68,-1.19,-1.070000,-0.086000,0.460000,0.050000,0.874000,1.000000,10.2129
synonymous_variant,COL4A1,SILENT,NM_001845.4:p.Arg1063Arg/c.3189A>T,cgA/cgT,LOW,,0.317891,0.2788,rs874203,,,,,,chr13,110827574,110827574,T,A,hom,synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg1063Arg/c.3189A>T|1669|COL4A1|protein_coding|CODING|NM_001845.4|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3701,0.3501,0.3668,0.34,0.28,0.36,,,,,,,,,,,,,,,,
synonymous_variant,COL4A1,SILENT,NM_001845.4:p.Gly1061Gly/c.3183G>A,ggG/ggA,LOW,,0.318091,0.2788,rs874204,,,,,,chr13,110827580,110827580,C,T,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1061Gly/c.3183G>A|1669|COL4A1|protein_coding|CODING|NM_001845.4|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3691,0.353,0.3668,0.34,0.28,0.36,,,,,,,,,,,,,,,,
synonymous_variant,COL4A1,SILENT,NM_001845.4:p.Pro710Pro/c.2130G>A,ccG/ccA,LOW,COSM4147573(1),0.307109,0.2768,rs16975492,,,,,,chr13,110833702,110833702,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro710Pro/c.2130G>A|1669|COL4A1|protein_coding|CODING|NM_001845.4|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3824,0.3516,0.3628,0.32,0.25,0.36,,,,,,,,,,,,,,,,
missense_variant,COL4A1,MISSENSE,NM_001845.4:p.Thr555Pro/c.1663A>C,Aca/Cca,MODERATE,,1,1,rs386598463,1(T),0.0(B),-2.135(N),-0.9146(T),,chr13,110839550,110839550,T,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr555Pro/c.1663A>C|1669|COL4A1|protein_coding|CODING|NM_001845.4|25|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.000003(N),0.000(P),-3.22(D),0.0000(T),0.217,-0.619053,4.66,4.66,-0.215000,1.110000,5.987000,0.136000,0.844000,1.000000,14.593
synonymous_variant,COL4A1,SILENT,NM_001845.4:p.Ala144Ala/c.432T>A,gcT/gcA,LOW,COSM3753575(2),0.472843,0.5407,rs532625,,,,,,chr13,110864225,110864225,A,T,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala144Ala/c.432T>A|1669|COL4A1|protein_coding|CODING|NM_001845.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6411,0.3804,0.4493,0.44,0.38,0.47,,,,,,,,,,,,,,,,
synonymous_variant,COL4A2,SILENT,NM_001846.2:p.Thr99Thr/c.297G>A,acG/acA,LOW,,0.942692,1,rs4238272,,,,,,chr13,111077197,111077197,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr99Thr/c.297G>A|1712|COL4A2|protein_coding|CODING|NM_001846.2|5|1),"H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.9796,0.9683,0.9632,0.93,0.87,0.96,,,,,,,,,,,,,,,,
synonymous_variant,COL4A2,SILENT,NM_001846.2:p.Pro1268Pro/c.3804T>A,ccT/ccA,LOW,,0.939497,1,rs439831,,,,,,chr13,111154058,111154058,T,A,hom,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro1268Pro/c.3804T>A|1712|COL4A2|protein_coding|CODING|NM_001846.2|41|1),downstream_gene_variant(MODIFIER||865|||COL4A2-AS1||NON_CODING|NR_046583.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9856,1,0.95,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL4A2,SILENT,NM_001846.2:p.Gly1269Gly/c.3807T>C,ggT/ggC,LOW,,0.939497,1,rs409858,,,,,,chr13,111154061,111154061,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1269Gly/c.3807T>C|1712|COL4A2|protein_coding|CODING|NM_001846.2|41|1),downstream_gene_variant(MODIFIER||862|||COL4A2-AS1||NON_CODING|NR_046583.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9856,1,0.95,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL4A2,SILENT,NM_001846.2:p.Thr1361Thr/c.4083T>C,acT/acC,LOW,,0.980232,0.9782,rs438758,,,,,,chr13,111155773,111155773,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr1361Thr/c.4083T>C|1712|COL4A2|protein_coding|CODING|NM_001846.2|43|1),intron_variant(MODIFIER|||n.187-498A>G||COL4A2-AS1||NON_CODING|NR_046583.1|2|1)","H1ESC:H3K36me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9957,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL4A2,SILENT,NM_001846.2:p.Ala1363Ala/c.4089G>A,gcG/gcA,LOW,COSM1606855(1),0.186302,0.0496,rs4773199,,,,,,chr13,111155779,111155779,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1363Ala/c.4089G>A|1712|COL4A2|protein_coding|CODING|NM_001846.2|43|1),intron_variant(MODIFIER|||n.187-504C>T||COL4A2-AS1||NON_CODING|NR_046583.1|2|1)","H1ESC:H3K36me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2168,0.1772,0.2008,0.24,0.29,0.22,,,,,,,,,,,,,,,,
synonymous_variant,COL4A2,SILENT,NM_001846.2:p.Phe1430Phe/c.4290C>T,ttC/ttT,LOW,COSM4147578(1),0.935903,1,rs4771683,,,,,,chr13,111156499,111156499,C,T,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1430Phe/c.4290C>T|1712|COL4A2|protein_coding|CODING|NM_001846.2|45|1),intron_variant(MODIFIER|||n.187-1224G>A||COL4A2-AS1||NON_CODING|NR_046583.1|2|1)","H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,1,0.9841,1,0.95,0.83,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL4A2,SILENT,NM_001846.2:p.Pro1505Pro/c.4515A>G,ccA/ccG,LOW,,0.751997,0.5635,rs445348,,,,,,chr13,111158874,111158874,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1505Pro/c.4515A>G|1712|COL4A2|protein_coding|CODING|NM_001846.2|46|1),intron_variant(MODIFIER|||n.186+1120T>C||COL4A2-AS1||NON_CODING|NR_046583.1|2|1)","H1ESC:H3K36me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ELF1,NHEK:H3K36me3",,,,0.7434,0.817,0.8946,0.87,0.80,0.91,,,,,,,,,,,,,,,,
synonymous_variant,RAB20,SILENT,NM_017817.1:p.Phe108Phe/c.324T>C,ttT/ttC,LOW,COSM3765675(1),0.852436,0.9554,rs419244,,,,,,chr13,111176393,111176393,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe108Phe/c.324T>C|234|RAB20|protein_coding|CODING|NM_017817.1|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.91,0.8732,0.8509,0.81,0.76,0.84,,,,,,,,,,,,,,,,
synonymous_variant,RAB20,SILENT,NM_017817.1:p.Gly66Gly/c.198C>A,ggC/ggA,LOW,COSM1477060(2),0.380192,0.2808,rs375814,,,,,,chr13,111176519,111176519,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly66Gly/c.198C>A|234|RAB20|protein_coding|CODING|NM_017817.1|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3098,0.4539,0.3827,0.39,0.46,0.36,,,,,,,,,,,,,,,,
synonymous_variant,CARS2,SILENT,NM_024537.2:p.Asp413Asp/c.1239T>C,gaT/gaC,LOW,COSM3753581(1),0.474241,0.4246,rs436462,,,,,,chr13,111298392,111298392,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp413Asp/c.1239T>C|564|CARS2|protein_coding|CODING|NM_024537.2|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4519,0.5346,0.3082,0.41,0.58,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CARS2,SILENT,NM_024537.2:p.Glu284Glu/c.852A>G,gaA/gaG,LOW,,0.76238,0.8333,rs4628819,,,,-1.0607(T),,chr13,111319754,111319754,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu284Glu/c.852A>G|564|CARS2|protein_coding|CODING|NM_024537.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8241,0.6787,0.8588,0.77,0.66,0.83,,,0.000(P),,0.0000(T),.,-0.416032,5.22,-5.17,0.459000,-1.105000,0.568000,0.241000,0.031000,0.999000,13.4843
synonymous_variant,CARS2,SILENT,NM_024537.2:p.Leu139Leu/c.417C>T,ctC/ctT,LOW,,0.147963,0.12,rs2304767,,,,,,chr13,111340342,111340342,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu139Leu/c.417C>T|564|CARS2|protein_coding|CODING|NM_024537.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1247,0.2176,0.325,0.24,0.07,0.33,,,,,,,,,,,,,,,,
missense_variant,ING1,MISSENSE,NM_005537.5:p.Leu125Arg/c.374T>G,cTg/cGg,MODERATE,COSM3749237(5),0.999401,1,rs7338333,1(T),0.0(B),0(N),-0.9690(T),,chr13,111368164,111368164,T,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu125Arg/c.374T>G|422|ING1|protein_coding|CODING|NM_005537.5|1|1),intron_variant(MODIFIER|||c.4+2840T>G|235|ING1|protein_coding|CODING|NM_198217.2|1|1),intron_variant(MODIFIER|||c.-72+2231T>G|210|ING1|protein_coding|CODING|NM_198218.2|1|1),intron_variant(MODIFIER|||c.136+1532T>G|279|ING1|protein_coding|CODING|NM_198219.2|1|1),intron_variant(MODIFIER|||c.85+289T>G|262|ING1|protein_coding|CODING|NM_001267728.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,K562:SP2,HUVEC:H3K9ac,H1ESC:SP1,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,HepG2:SP1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:Cfos,CD4:PolII,GM12878:Cfos,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,1.00,1.00,1.00,,,1.000(P),0.42(T),0.0000(T),0.035,1.407646,3.05,-4.35,-0.982000,-1.492000,-0.029000,0.006000,0.000000,0.000000,2.8961
synonymous_variant,ING1,SILENT,NM_005537.5:p.Leu176Leu/c.526C>T,Ctg/Ttg,LOW,COSM3749238(17),0.58147,0.7252,rs9555726,,,,,,chr13,111368316,111368316,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu176Leu/c.526C>T|422|ING1|protein_coding|CODING|NM_005537.5|1|1),intron_variant(MODIFIER|||c.4+2992C>T|235|ING1|protein_coding|CODING|NM_198217.2|1|1),intron_variant(MODIFIER|||c.-72+2383C>T|210|ING1|protein_coding|CODING|NM_198218.2|1|1),intron_variant(MODIFIER|||c.136+1684C>T|279|ING1|protein_coding|CODING|NM_198219.2|1|1),intron_variant(MODIFIER|||c.85+441C>T|262|ING1|protein_coding|CODING|NM_001267728.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.7249,0.6816,0.6909,0.63,0.39,0.75,,,,,,,,,,,,,,,,
synonymous_variant,TEX29,SILENT,NM_152324.1:p.Asp22Asp/c.66C>T,gaC/gaT,LOW,COSM3753585(1),0.541733,0.7927,rs1359428,,,,,,chr13,111980537,111980537,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp22Asp/c.66C>T|151|TEX29|protein_coding|CODING|NM_152324.1|3|1),"K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6503,0.6585,0.492,0.42,0.29,0.49,,,,,,,,,,,,,,,,
synonymous_variant,SPACA7,SILENT,NM_145248.4:p.Leu59Leu/c.177A>G,ttA/ttG,LOW,COSM1179756(2),0.67472,0.624,rs2296895,,,,,,chr13,113052388,113052388,A,G,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu59Leu/c.177A>G|195|SPACA7|protein_coding|CODING|NM_145248.4|3|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.684,0.6196,0.5696,0.66,0.79,0.59,,,,,,,,,,,,,,,,
missense_variant,SPACA7,MISSENSE,NM_145248.4:p.Val111Asp/c.332T>A,gTc/gAc,MODERATE,COSM1179757(1),0.666933,0.624,rs10816,0.71(T),0.0(B),-0.205(N),-0.9750(T),,chr13,113053470,113053470,T,A,hom,missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val111Asp/c.332T>A|195|SPACA7|protein_coding|CODING|NM_145248.4|4|1),HepG2:H3K27me3,,,,0.684,0.6081,0.5716,0.66,0.78,0.60,,,1.000(P),"1.06,1.06,1.06,1.06(T,T,T,T)",0.0000(T),0.395,-0.775762,3.03,0.446,-0.265000,-0.169000,-0.204000,0.002000,0.000000,0.000000,0.5289
synonymous_variant,ATP11A,SILENT,NM_032189.3:p.Leu314Leu/c.942G>A,ctG/ctA,LOW,COSM3753587(1),0.214457,0.1905,rs9549564,,,,,,chr13,113479813,113479813,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu314Leu/c.942G>A|1134|ATP11A|protein_coding|CODING|NM_015205.2|11|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu314Leu/c.942G>A|1191|ATP11A|protein_coding|CODING|NM_032189.3|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2127,0.317,0.2903,0.23,0.15,0.28,,,,,,,,,,,,,,,,
missense_variant,ATP11A,MISSENSE,NM_032189.3:p.Met317Val/c.949A>G,Atg/Gtg,MODERATE,COSM3999026(1),0.842252,0.8661,rs368865,0.68(T),"0.0,0.0,0.0(B,B,B)",-2.155(N),-0.9448(T),,chr13,113479820,113479820,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met317Val/c.949A>G|1134|ATP11A|protein_coding|CODING|NM_015205.2|11|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met317Val/c.949A>G|1191|ATP11A|protein_coding|CODING|NM_032189.3|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7157,0.8473,0.7445,0.80,0.94,0.72,,0.000921(N),1.000(P),"-2.43,-2.43,-2.43,-2.43(D,D,D,D)",0.0000(T),0.299,-0.671815,5.14,5.14,-0.282000,1.176000,3.156000,0.657000,0.993000,0.994000,10.1209
synonymous_variant,ATP11A,SILENT,NM_032189.3:p.Leu746Leu/c.2238G>C,ctG/ctC,LOW,,0.696286,0.6567,rs9549573,,,,-1.0387(T),,chr13,113508839,113508839,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu746Leu/c.2238G>C|1134|ATP11A|protein_coding|CODING|NM_015205.2|19|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu746Leu/c.2238G>C|1191|ATP11A|protein_coding|CODING|NM_032189.3|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4479,0.7262,0.6044,0.72,0.92,0.62,,,0.000(P),,0.0000(T),.,-0.814080,4.66,2.84,-0.223000,0.391000,2.234000,0.011000,0.764000,1.000000,10.7428
synonymous_variant,ATP11A,SILENT,NM_032189.3:p.Ser1046Ser/c.3138G>A,tcG/tcA,LOW,,0.3748,0.4742,rs1320525,,,,,,chr13,113527967,113527967,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1046Ser/c.3138G>A|1134|ATP11A|protein_coding|CODING|NM_015205.2|27|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1046Ser/c.3138G>A|1191|ATP11A|protein_coding|CODING|NM_032189.3|27|1)","H1ESC:H3K36me3,CD4:DNase1,K562:H3K36me3,H1ESC:H3K27me3,CD4:H3K27ac,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3845,0.3761,0.3658,0.36,0.31,0.39,,,,,,,,,,,,,,,,
missense_variant,MCF2L,MISSENSE,NM_001112732.2:p.Cys199Gly/c.595T>G,Tgc/Ggc,MODERATE,,0.000599042,0,rs201672761,0.33(T),"0.043,0.043,0.061,0.017,0.062,0.019(B,B,B,B,B,B)",1.1(L),-1.0302(T),,chr13,113718723,113718723,T,G,het,"missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys199Gly/c.595T>G|1125|MCF2L|protein_coding|CODING|NM_001112732.2|6|1),missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys197Gly/c.589T>G|1123|MCF2L|protein_coding|CODING|NM_024979.4|6|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HSMM:H3K27ac,GM12878:H3K36me3,HeLa-S3:H3K4me2,HSMM:DNase1,HeLa-S3:PolII,K562:H3K27me3,HeLa-S3:H3K27ac,HeLa-S3:Ini1,HepG2:H3K36me3,HeLa-S3:H3K4me3",,,,0.002,0.0014,0,0.00,0.00,0.00,,0.000013(D),1.000(D),"2.61,2.61,2.61,2.61,2.61,2.61,2.61,2.61,2.61,2.61,2.61(T,T,T,T,T,T,T,T,T,T,T)",0.0247(T),0.515,1.969578,5.02,3.84,0.454000,0.767000,3.650000,0.924000,1.000000,1.000000,6.5382
synonymous_variant,MCF2L,SILENT,NM_001112732.2:p.Thr291Thr/c.873C>T,acC/acT,LOW,COSM4147603(1),0.188498,0.4573,rs2297192,,,,,,chr13,113720476,113720476,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr291Thr/c.873C>T|1125|MCF2L|protein_coding|CODING|NM_001112732.2|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr289Thr/c.867C>T|1123|MCF2L|protein_coding|CODING|NM_024979.4|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1227,0.2478,0.1571,0.13,0.05,0.16,,,,,,,,,,,,,,,,
synonymous_variant,MCF2L,SILENT,NM_001112732.2:p.Ala340Ala/c.1020G>A,gcG/gcA,LOW,COSM4147609(1),0.220248,0.4593,rs3814264,,,,-0.8860(T),,chr13,113728781,113728781,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala340Ala/c.1020G>A|1125|MCF2L|protein_coding|CODING|NM_001112732.2|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala338Ala/c.1014G>A|1123|MCF2L|protein_coding|CODING|NM_024979.4|10|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1411,0.3314,0.2237,0.17,0.07,0.21,,,0.000(P),,0.0000(T),.,-0.379936,4.87,2.81,0.655000,2.234000,2.757000,0.007000,0.908000,1.000000,9.4825
synonymous_variant,F7,SILENT,NM_000131.4:p.His175His/c.525C>T,caC/caT,LOW,COSM432148(1),0.145567,0.0446,rs6042,,,,,,chr13,113770068,113770068,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His175His/c.525C>T|466|F7|protein_coding|CODING|NM_000131.4|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His91His/c.273C>T|382|F7|protein_coding|CODING|NM_001267554.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His153His/c.459C>T|444|F7|protein_coding|CODING|NM_019616.3|5|1),non_coding_exon_variant(MODIFIER|||n.546C>T||F7||CODING|NR_051961.1|4|1)","H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3016,0.1282,0.1213,0.12,0.13,0.12,,,,,,,,,,,,,,,,
missense_variant,F7,MISSENSE,NM_000131.4:p.Arg413Gln/c.1238G>A,cGg/cAg,MODERATE,,0.138379,0.0466,rs6046,0.16(T),"0.011,0.005,0.008(B,B,B)",1.095(L),-1.1082(T),,chr13,113773159,113773159,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg413Gln/c.1238G>A|466|F7|protein_coding|CODING|NM_000131.4|9|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg329Gln/c.986G>A|382|F7|protein_coding|CODING|NM_001267554.1|6|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg391Gln/c.1172G>A|444|F7|protein_coding|CODING|NM_019616.3|8|1),non_coding_exon_variant(MODIFIER|||n.1259G>A||F7||CODING|NR_051961.1|7|1)","H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,RCV000012861.1,,0.3006,0.1225,0.1113,0.11,0.12,0.11,,0.521729(N),1.000(P),"-1.51,-1.51,-1.51(D,D,D)",0.0051(T),0.227,0.556041,4.11,-4.6,-0.518000,-1.032000,0.104000,0.015000,0.003000,0.036000,5.9568
synonymous_variant,F10,SILENT,NM_000504.3:p.Thr264Thr/c.792C>T,acC/acT,LOW,COSM147720(1),0.623203,0.5238,rs5960,,,,,,chr13,113801737,113801737,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr264Thr/c.792C>T|488|F10|protein_coding|CODING|NM_000504.3|7|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.682,0.6715,0.8648,0.74,0.50,0.86,,,,,,,,,,,,,,,,
synonymous_variant,PROZ,SILENT,NM_001256134.1:p.Thr171Thr/c.513A>G,acA/acG,LOW,,0.946685,1,rs564081,,,,,,chr13,113818900,113818900,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr171Thr/c.513A>G|422|PROZ|protein_coding|CODING|NM_001256134.1|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr149Thr/c.447A>G|400|PROZ|protein_coding|CODING|NM_003891.2|5|1)",H1ESC:H3K36me3,,,,1,0.9669,0.999,0.95,0.84,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CUL4A,SILENT,NM_001008895.2:p.Asp358Asp/c.1074C>T,gaC/gaT,LOW,COSM3753593(2),0.260982,0.3383,rs3764124,,,,,,chr13,113897320,113897320,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp358Asp/c.1074C>T|759|CUL4A|protein_coding|CODING|NM_001008895.2|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp258Asp/c.774C>T|659|CUL4A|protein_coding|CODING|NM_001278513.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp266Asp/c.798C>T|667|CUL4A|protein_coding|CODING|NM_001278514.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp258Asp/c.774C>T|659|CUL4A|protein_coding|CODING|NM_003589.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.456,0.3271,0.2336,0.18,0.08,0.23,,,,,,,,,,,,,,,,
missense_variant,CUL4A,MISSENSE,NM_001008895.2:p.Lys644Arg/c.1931A>G,aAa/aGa,MODERATE,COSM3753596(1),0.251597,0.3353,rs2302757,0.16(T),"0.027,0.054(B,B)",1.45(L),-1.0719(T),,chr13,113909339,113909339,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys644Arg/c.1931A>G|759|CUL4A|protein_coding|CODING|NM_001008895.2|18|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys544Arg/c.1631A>G|659|CUL4A|protein_coding|CODING|NM_001278513.1|18|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys552Arg/c.1655A>G|667|CUL4A|protein_coding|CODING|NM_001278514.1|18|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys544Arg/c.1631A>G|659|CUL4A|protein_coding|CODING|NM_003589.2|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.456,0.3228,0.2326,0.17,0.05,0.23,,0.000000(D),0.001(P),"-0.87,-0.87,-0.87,-0.87(T,T,T,T)",0.0000(T),0.019,0.888485,4.99,3.77,0.379000,0.817000,3.974000,0.124000,0.998000,1.000000,9.1672
synonymous_variant,LAMP1,SILENT,NM_005561.3:p.Arg186Arg/c.556C>A,Cgg/Agg,LOW,,0.979233,1,rs9577503,,,,,,chr13,113965176,113965176,C,A,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg186Arg/c.556C>A|417|LAMP1|protein_coding|CODING|NM_005561.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,0.997,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ATP4B,SILENT,NM_000705.3:p.Arg36Arg/c.106A>C,Agg/Cgg,LOW,,1,1,rs9285616,,,,,,chr13,114312354,114312354,T,G,hom,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg36Arg/c.106A>C|291|ATP4B|protein_coding|CODING|NM_000705.3|1|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,1,1,1,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,GRK1,SILENT,NM_002929.2:p.Leu196Leu/c.588A>G,ctA/ctG,LOW,COSM3753601(1),0.723642,0.6597,rs9796035,,,,,,chr13,114322289,114322289,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu196Leu/c.588A>G|563|GRK1|protein_coding|CODING|NM_002929.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6933,0.6585,0.6829,0.71,0.82,0.65,,,,,,,,,,,,,,,,
synonymous_variant,TMEM255B,SILENT,NM_182614.2:p.Pro259Pro/c.777C>T,ccC/ccT,LOW,,0.113219,0.1458,rs9577888,,,,,,chr13,114507965,114507965,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro259Pro/c.777C>T|326|TMEM255B|protein_coding|CODING|NM_182614.2|8|1),"HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1299,0.147,0.0666,0.07,0.09,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TMEM255B,SILENT,NM_182614.2:p.Pro292Pro/c.876C>A,ccC/ccA,LOW,COSN164584,0.127796,0.1478,rs57648467,,,,,,chr13,114514771,114514771,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro292Pro/c.876C>A|326|TMEM255B|protein_coding|CODING|NM_182614.2|9|1),"HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.1299,0.1571,0.0656,0.09,0.14,0.06,,,,,,,,,,,,,,,,
synonymous_variant,GAS6,SILENT,NM_000820.2:p.Ala623Ala/c.1869T>C,gcT/gcC,LOW,COSM3753602(4),0.443091,0.4008,rs7400002,,,,,,chr13,114524944,114524944,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala623Ala/c.1869T>C|678|GAS6|protein_coding|CODING|NM_000820.2|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala350Ala/c.1050T>C|405|GAS6|protein_coding|CODING|NM_001143945.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala324Ala/c.972T>C|379|GAS6|protein_coding|CODING|NM_001143946.1|6|1),intron_variant(MODIFIER|||n.82+6280A>G||GAS6-AS1||NON_CODING|NR_044995.2|1|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NHEK:H3K4me1,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K4me1,IMR90:H3K36me3,HSMM:H3K4me1,IMR90:H3K27ac,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5849,0.4568,0.2416,0.28,0.42,0.21,,,,,,,,,,,,,,,,
missense_variant,LINC00452,MISSENSE,NM_001278674.1:p.Asn168Ser/c.503A>G,aAc/aGc,MODERATE,,0.213059,0.0466,rs386623722,,,,,,chr13,114622597,114622597,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn168Ser/c.503A>G|253|LINC00452|protein_coding|CODING|NM_001278674.1|6|1),NHEK:H3K27me3,Response_to_tocilizumab_in_rheumatoid_arthritis,,,0.1155,0.2104,0.175,,,,,,,,,,,,,,,,,,,
missense_variant,LINC00452,MISSENSE,NM_001278674.1:p.Val240Met/c.718G>A,Gtg/Atg,MODERATE,,0.804912,0.8175,rs7399982,,,,,,chr13,114623880,114623880,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val240Met/c.718G>A|253|LINC00452|protein_coding|CODING|NM_001278674.1|7|1),"HUVEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7904,0.7118,0.7247,,,,,,,,,,,,,,,,,,,
synonymous_variant,RASA3,SILENT,NM_007368.2:p.Thr442Thr/c.1326T>C,acT/acC,LOW,COSM4147619(1),0.725839,0.6558,rs2274717,,,,,,chr13,114780764,114780764,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr442Thr/c.1326T>C|834|RASA3|protein_coding|CODING|NM_007368.2|14|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HeLa-S3:CTCF,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K27ac,CD4:PolII,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.6677,0.6585,0.6461,0.71,0.86,0.63,,,,,,,,,,,,,,,,
synonymous_variant,UPF3A,SILENT,NM_023011.3:p.Pro407Pro/c.1221G>A,ccG/ccA,LOW,,0.00279553,0,rs146464930,,,,,,chr13,115067419,115067419,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro407Pro/c.1221G>A|476|UPF3A|protein_coding|CODING|NM_023011.3|9|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro374Pro/c.1122G>A|443|UPF3A|protein_coding|CODING|NM_080687.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.0099,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,CHAMP1,MISSENSE,NM_001164145.1:p.Ala586Ser/c.1756G>T,Gcc/Tcc,MODERATE,,0.0081869,0,rs117710037,,0.011(B),0.805(L),-0.8836(T),,chr13,115091073,115091073,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala586Ser/c.1756G>T|812|CHAMP1|protein_coding|CODING|NM_001164145.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala586Ser/c.1756G>T|812|CHAMP1|protein_coding|CODING|NM_032436.2|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala586Ser/c.1756G>T|812|CHAMP1|protein_coding|CODING|NM_001164144.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.013,0.0268,0.03,0.01,0.04,,0.068963(N),1.000(N),5.26(T),0.0008(T),0.075,1.851751,5.6,3.82,0.655000,1.314000,0.519000,0.972000,0.974000,0.776000,5.9549
missense_variant,OR4Q3,MISSENSE,NM_172194.1:p.Phe238Leu/c.712T>C,Ttc/Ctc,MODERATE,,0.709864,0.7768,rs12896533,1(T),0.0(B),0.14(N),-0.9558(T),,chr14,20216298,20216298,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe238Leu/c.712T>C|313|OR4Q3|protein_coding|CODING|NM_172194.1|1|1),H1ESC:H3K9me3,,,,0.8395,0.6744,0.7465,0.67,0.57,0.73,,0.249837(N),0.000(P),8.37(T),0.0000(T),0.06,-2.091199,4.1,2.21,-0.291000,0.389000,-0.322000,0.026000,0.974000,0.000000,6.6167
missense_variant,OR4M1,MISSENSE,NM_001005500.1:p.Thr116Ile/c.347C>T,aCa/aTa,MODERATE,COSM3753842(1),0.254393,0.2937,rs2635535,0.76(T),0.012(B),1.16(L),-1.1067(T),,chr14,20248828,20248828,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr116Ile/c.347C>T|313|OR4M1|protein_coding|CODING|NM_001005500.1|1|1),,,,,0.3016,0.3242,0.3439,0.26,0.13,0.32,,0.000124(D),0.000(P),7.64(T),0.0000(T),0.235,1.723491,4.33,3.43,0.506000,2.407000,1.306000,0.990000,1.000000,0.000000,9.9477
missense_variant,OR4M1,MISSENSE,NM_001005500.1:p.Gly232Asp/c.695G>A,gGt/gAt,MODERATE,COSM3753843(2),,,rs2815960,0.01(D),0.003(B),0(N),-1.0398(T),,chr14,20249176,20249176,G,A,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly232Asp/c.695G>A|313|OR4M1|protein_coding|CODING|NM_001005500.1|1|1),H1ESC:H3K9me3,,,,,,,0.26,0.13,0.32,,0.066723(N),0.000(P),8.26(T),0.0000(T),0.141,1.478364,4.42,3.53,0.506000,1.225000,0.118000,0.744000,1.000000,0.000000,7.0717
synonymous_variant,OR4N2,SILENT,NM_001004723.2:p.Asp52Asp/c.156C>T,gaC/gaT,LOW,,,,rs11621854,,,,,,chr14,20295763,20295763,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp52Asp/c.156C>T|307|OR4N2|protein_coding|CODING|NM_001004723.2|2|1),K562:CTCF,,,,,,,0.25,0.33,0.20,,,,,,,,,,,,,,,,
synonymous_variant,OR4N2,SILENT,NM_001004723.2:p.Ala57Ala/c.171C>A,gcC/gcA,LOW,,0.210463,0.1161,rs11621883,,,,,,chr14,20295778,20295778,C,A,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala57Ala/c.171C>A|307|OR4N2|protein_coding|CODING|NM_001004723.2|2|1),K562:CTCF,,,,0.2495,0.1657,0.2107,0.02,0.02,0.02,,,,,,,,,,,,,,,,
missense_variant,OR4N2,MISSENSE,NM_001004723.2:p.Pro58Ala/c.172C>G,Ccc/Gcc,MODERATE,,0.207468,0.1161,rs11621884,0.01(D),1.0(D),3.43(M),-1.1327(T),,chr14,20295779,20295779,C,G,het,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro58Ala/c.172C>G|307|OR4N2|protein_coding|CODING|NM_001004723.2|2|1),K562:CTCF,,,,0.2485,0.1657,0.2107,0.01,0.02,0.01,,0.000189(D),0.005(P),"4.5,4.5(T,T)",0.0002(T),0.41,3.050174,4.3,4.3,0.591000,2.374000,4.629000,0.439000,0.248000,0.998000,14.6285
missense_variant,OR4N2,MISSENSE,NM_001004723.2:p.Ile76Thr/c.227T>C,aTt/aCt,MODERATE,,,,rs2801164,0.52(T),0.018(B),-1.075(N),-1.2068(T),,chr14,20295834,20295834,T,C,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile76Thr/c.227T>C|307|OR4N2|protein_coding|CODING|NM_001004723.2|2|1),K562:CTCF,,,,,,,0.48,0.56,0.44,,0.000151(D),0.993(P),"6.89,6.89(T,T)",0.0000(T),0.336,1.311947,4.3,4.3,0.482000,1.922000,0.524000,0.971000,1.000000,0.000000,11.7038
missense_variant,OR4N2,MISSENSE,NM_001004723.2:p.Pro133Ser/c.397C>T,Cct/Tct,MODERATE,COSM147728(2),,,rs2318279,0.16(T),0.0(B),0.66(N),-0.9502(T),,chr14,20296004,20296004,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro133Ser/c.397C>T|307|OR4N2|protein_coding|CODING|NM_001004723.2|2|1),"K562:CTCF,HepG2:CTCF",,,,,,,0.30,0.38,0.26,,0.017092(N),1.000(P),"5.46,5.46(T,T)",0.0000(T),0.246,-1.055704,4.53,-1.58,-0.332000,-0.283000,-1.373000,0.292000,0.006000,0.000000,2.051
missense_variant,OR4N2,MISSENSE,NM_001004723.2:p.Val135Leu/c.403G>C,Gtc/Ctc,MODERATE,,,,rs17114261,0.02(D),0.007(B),-0.485(N),-0.9027(T),,chr14,20296010,20296010,G,C,het,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val135Leu/c.403G>C|307|OR4N2|protein_coding|CODING|NM_001004723.2|2|1),"K562:CTCF,HepG2:CTCF",,,,,,,0.23,0.25,0.22,,0.008845(N),1.000(P),"5.35,5.35(T,T)",0.0000(T),0.242,0.889998,4.53,-0.609,0.591000,-0.010000,-0.609000,0.524000,0.387000,0.000000,4.4754
missense_variant,OR4K2,MISSENSE,NM_001005501.1:p.Asn307Ile/c.920A>T,aAt/aTt,MODERATE,COSM3753844(2),0.278954,0.122,rs12883767,0.31(T),0.14(B),0(N),-0.9607(T),,chr14,20345346,20345346,A,T,het,missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn307Ile/c.920A>T|314|OR4K2|protein_coding|CODING|NM_001005501.1|1|1),,,,,0.3108,0.2839,0.4742,0.33,0.22,0.38,,0.012499(N),0.813(P),3.28(T),0.0000(T),0.113,0.469523,5.25,2.87,0.482000,1.021000,1.415000,0.025000,0.874000,0.116000,6.7463
synonymous_variant,OR4K1,SILENT,NM_001004063.2:p.Phe28Phe/c.84T>C,ttT/ttC,LOW,,0.26857,0.2331,rs2792148,,,,,,chr14,20403909,20403909,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe28Phe/c.84T>C|311|OR4K1|protein_coding|CODING|NM_001004063.2|1|1),,,,,0.4121,0.3213,0.4016,0.28,0.11,0.37,,,,,,,,,,,,,,,,
missense_variant,OR4K1,MISSENSE,NM_001004063.2:p.Arg89His/c.266G>A,cGc/cAc,MODERATE,,0.321885,0.2718,rs12885778,1(T),0.0(B),-0.015(N),-0.9620(T),,chr14,20404091,20404091,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg89His/c.266G>A|311|OR4K1|protein_coding|CODING|NM_001004063.2|1|1),,,,,0.3875,0.2594,0.336,0.34,0.34,0.34,,0.444113(N),1.000(P),4.75(T),0.0000(T),0.07,-2.495960,4.94,-0.184,-0.966000,0.065000,-0.499000,0.096000,0.010000,0.000000,8.7145
missense_variant,OR4K1,MISSENSE,NM_001004063.2:p.Ser263Arg/c.789C>A,agC/agA,MODERATE,,0.176917,0.128,rs34608158,0.08(T),0.111(B),1.99(M),-1.0136(T),,chr14,20404614,20404614,C,A,het,missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser263Arg/c.789C>A|311|OR4K1|protein_coding|CODING|NM_001004063.2|1|1),,,,,0.2914,0.1628,0.3032,0.20,0.08,0.26,,0.001304(N),1.000(P),8.36(T),0.0000(T),0.287,1.519819,5.09,2.23,0.655000,0.731000,-0.033000,0.817000,0.997000,0.000000,7.3716
missense_variant,OR4K1,MISSENSE,NM_001004063.2:p.Arg304Cys/c.910C>T,Cgt/Tgt,MODERATE,,0.234425,0.1974,rs34394400,0.01(D),0.359(B),1.235(L),-0.9503(T),,chr14,20404735,20404735,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg304Cys/c.910C>T|311|OR4K1|protein_coding|CODING|NM_001004063.2|1|1),,,,,0.3374,0.2363,0.3211,0.26,0.14,0.31,,0.250404(N),1.000(P),1.33(T),0.0000(T),0.099,0.711016,5.17,0.607,-0.136000,0.209000,0.468000,0.001000,0.000000,0.001000,7.8378
missense_variant,OR4K1,MISSENSE,NM_001004063.2:p.Arg304His/c.911G>A,cGt/cAt,MODERATE,,0.429513,0.6101,rs2792146,0.22(T),0.001(B),1.16(L),-0.9361(T),,chr14,20404736,20404736,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg304His/c.911G>A|311|OR4K1|protein_coding|CODING|NM_001004063.2|1|1),,,,,0.4438,0.4669,0.4294,0.37,0.29,0.41,,0.250404(N),1.000(P),1.07(T),0.0000(T),0.066,-0.480168,5.17,-4.59,-1.686000,-0.902000,-1.082000,0.002000,0.000000,0.000000,8.6915
synonymous_variant,OR4K15,SILENT,NM_001005486.1:p.Val271Val/c.813C>T,gtC/gtT,LOW,,0.566494,0.8323,rs11158071,,,,,,chr14,20444490,20444490,C,T,hom,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val271Val/c.813C>T|348|OR4K15|protein_coding|CODING|NM_001005486.1|1|1),"CD4:H4K91ac,CD4:H2BK20ac",,,,0.5767,0.755,0.6938,0.51,0.23,0.66,,,,,,,,,,,,,,,,
synonymous_variant,OR4K14,SILENT,NM_001004712.1:p.Glu294Glu/c.882G>A,gaG/gaA,LOW,,0.752596,0.9881,rs12590785,,,,,,chr14,20482471,20482471,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu294Glu/c.882G>A|310|OR4K14|protein_coding|CODING|NM_001004712.1|1|1),,,,,0.8027,0.8689,0.8549,0.72,0.48,0.84,,,,,,,,,,,,,,,,
synonymous_variant,OR4K13,SILENT,NM_001004714.1:p.Ser266Ser/c.798G>A,tcG/tcA,LOW,COSM3999191(1),0.265974,0.255,rs17277032,,,,,,chr14,20502120,20502120,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser266Ser/c.798G>A|304|OR4K13|protein_coding|CODING|NM_001004714.1|1|1),,,,,0.2147,0.3444,0.507,0.39,0.18,0.50,,,,,,,,,,,,,,,,
missense_variant,OR4L1,MISSENSE,NM_001004717.1:p.Asp2Asn/c.4G>A,Gat/Aat,MODERATE,COSM3999192(1),0.536741,0.5734,rs1958715,0.34(T),0.005(B),0.995(L),-1.0266(T),,chr14,20528207,20528207,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp2Asn/c.4G>A|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,0.7035,0.5562,0.3857,0.43,0.49,0.40,,0.248106(N),0.972(P),4.08(T),0.0000(T),0.011,0.775042,3.28,1.4,0.639000,0.395000,-0.124000,0.504000,0.786000,0.000000,6.4376
missense_variant,OR4L1,MISSENSE,NM_001004717.1:p.Met40Val/c.118A>G,Atg/Gtg,MODERATE,,0.536741,0.5734,rs1958716,0.27(T),0.0(B),-0.38(N),-1.0849(T),,chr14,20528321,20528321,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met40Val/c.118A>G|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,0.7035,0.5562,0.3857,0.43,0.49,0.40,,0.991451(N),1.000(P),7.38(T),0.0000(T),0.025,0.248431,3.84,-5.83,-0.148000,-1.322000,-5.017000,0.960000,0.001000,0.000000,0.3958
missense_variant,OR4L1,MISSENSE,NM_001004717.1:p.Arg52Ser/c.156G>T,agG/agT,MODERATE,,0.971246,1,rs1959630,0.28(T),0.0(B),-2.215(N),-0.9894(T),,chr14,20528359,20528359,G,T,hom,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg52Ser/c.156G>T|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,1,0.9971,0.999,0.97,0.92,1.00,,0.713111(N),1.000(P),5.39(T),0.0000(T),0.067,-0.334723,3.84,-4.33,-1.152000,-1.457000,-1.783000,0.007000,0.000000,0.000000,5.8773
synonymous_variant,OR4L1,SILENT,NM_001004717.1:p.Ser53Ser/c.159A>G,tcA/tcG,LOW,,0.538538,0.5734,rs1958717,,,,,,chr14,20528362,20528362,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser53Ser/c.159A>G|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,0.7035,0.5576,0.3857,0.44,0.50,0.40,,,,,,,,,,,,,,,,
missense_variant,OR4L1,MISSENSE,NM_001004717.1:p.Met101Lys/c.302T>A,aTg/aAg,MODERATE,,0.426318,0.5357,rs2775253,0(D),0.598(P),2.635(M),-0.9324(T),,chr14,20528505,20528505,T,A,het,missense_variant(MODERATE|MISSENSE|aTg/aAg|p.Met101Lys/c.302T>A|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,0.5307,0.3934,0.3221,0.33,0.36,0.32,,0.000618(D),0.177(P),3.27(T),0.0000(T),0.362,3.761031,3.97,3.97,0.524000,1.793000,0.887000,0.960000,1.000000,0.001000,11.1491
missense_variant,OR4L1,MISSENSE,NM_001004717.1:p.Gly109Ser/c.325G>A,Ggt/Agt,MODERATE,,0.426118,0.5347,rs2775254,0.01(D),0.608(P),1.695(L),-0.9084(T),,chr14,20528528,20528528,G,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly109Ser/c.325G>A|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,0.5307,0.3934,0.3221,0.33,0.36,0.32,,0.000024(D),1.000(P),2.98(T),0.0000(T),0.146,2.747603,3.99,3.99,0.650000,2.213000,-0.577000,0.477000,0.998000,0.000000,13.9601
synonymous_variant,OR4L1,SILENT,NM_001004717.1:p.Ala272Ala/c.816C>T,gcC/gcT,LOW,COSM3999195(1),0.43151,0.5357,rs1959629,,,,,,chr14,20529019,20529019,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala272Ala/c.816C>T|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,0.5419,0.3948,0.3221,0.34,0.37,0.32,,,,,,,,,,,,,,,,
synonymous_variant,OR4L1,SILENT,NM_001004717.1:p.Pro280Pro/c.840C>G,ccC/ccG,LOW,COSM3999196(1),0.428514,0.5357,rs1959628,,,,,,chr14,20529043,20529043,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro280Pro/c.840C>G|312|OR4L1|protein_coding|CODING|NM_001004717.1|1|1),,,,,0.5419,0.3934,0.3221,0.34,0.36,0.32,,,,,,,,,,,,,,,,
synonymous_variant,OR4K17,SILENT,NM_001004715.1:p.Val204Val/c.612G>A,gtG/gtA,LOW,,,,,,,,,,chr14,20586177,20586177,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val204Val/c.612G>A|343|OR4K17|protein_coding|CODING|NM_001004715.1|1|1),K562:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR11G2,SILENT,NM_001005503.1:p.Ser131Ser/c.393G>C,tcG/tcC,LOW,,0.905751,0.7192,rs4981823,,,,,,chr14,20665887,20665887,G,C,hom,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser131Ser/c.393G>C|345|OR11G2|protein_coding|CODING|NM_001005503.1|1|1),,,,,0.9141,0.8876,0.9781,0.98,0.99,0.98,,,,,,,,,,,,,,,,
missense_variant,OR11H6,MISSENSE,NM_001004480.1:p.Ile107Thr/c.320T>C,aTt/aCt,MODERATE,,0.390974,0.2371,rs12891553,1(T),0.0(B),-2.075(N),-1.0078(T),,chr14,20692188,20692188,T,C,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile107Thr/c.320T>C|330|OR11H6|protein_coding|CODING|NM_001004480.1|1|1),,,,,0.3763,0.3516,0.4781,0.49,0.51,0.48,,0.019648(N),1.000(P),5.06(T),0.0000(T),0.033,-1.933307,4.77,2.91,-0.432000,0.214000,-1.010000,0.832000,0.991000,0.000000,4.8554
synonymous_variant,OR11H6,SILENT,NM_001004480.1:p.Tyr141Tyr/c.423C>T,taC/taT,LOW,,0.390974,0.2371,rs34693535,,,,,,chr14,20692291,20692291,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr141Tyr/c.423C>T|330|OR11H6|protein_coding|CODING|NM_001004480.1|1|1),,,,,0.3763,0.3516,0.4781,0.49,0.51,0.48,,,,,,,,,,,,,,,,
missense_variant,OR11H6,MISSENSE,NM_001004480.1:p.Leu195Phe/c.585G>T,ttG/ttT,MODERATE,,0.389377,0.2361,rs17211285,1(T),0.001(B),-2.735(N),-0.9027(T),,chr14,20692453,20692453,G,T,hom,missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu195Phe/c.585G>T|330|OR11H6|protein_coding|CODING|NM_001004480.1|1|1),,,,,0.3691,0.3516,0.4781,0.49,0.51,0.48,,0.110693(N),1.000(P),9.48(T),0.0000(T),0.034,-1.904680,4.62,-5.69,-1.079000,-1.967000,-2.544000,0.612000,0.005000,0.000000,6.6385
missense_variant,OR11H6,MISSENSE,NM_001004480.1:p.Tyr236His/c.706T>C,Tac/Cac,MODERATE,,0.390974,0.2371,rs17277221,0(D),1.0(D),4.125(H),-1.0289(T),,chr14,20692574,20692574,T,C,hom,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr236His/c.706T>C|330|OR11H6|protein_coding|CODING|NM_001004480.1|1|1),,,,,0.3763,0.3516,0.4781,0.49,0.51,0.48,,0.000378(D),0.085(P),6.87(T),0.0000(T),0.308,2.649305,4.78,4.78,0.386000,2.000000,4.432000,0.290000,0.906000,1.000000,12.2972
missense_variant,OR11H6,MISSENSE,NM_001004480.1:p.Val243Leu/c.727G>C,Gtg/Ctg,MODERATE,,0.0439297,0.003,rs61993884,0.02(D),0.817(P),2.12(M),-0.7954(T),,chr14,20692595,20692595,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val243Leu/c.727G>C|330|OR11H6|protein_coding|CODING|NM_001004480.1|1|1),,,,,0.0552,0.0403,0.1262,0.09,0.03,0.12,,0.000419(D),0.711(P),8.27(T),0.0000(T),0.239,3.557373,4.78,3.89,0.471000,1.223000,0.476000,0.836000,0.979000,0.129000,7.2195
missense_variant,OR11H6,MISSENSE,NM_001004480.1:p.Cys259Arg/c.775T>C,Tgt/Cgt,MODERATE,,0.390974,0.2371,rs17277228,0(D),1.0(D),3.915(H),-1.0536(T),,chr14,20692643,20692643,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys259Arg/c.775T>C|330|OR11H6|protein_coding|CODING|NM_001004480.1|1|1),,,,,0.3763,0.3516,0.4781,0.49,0.51,0.48,,0.000045(D),0.000(P),7.73(T),0.0000(T),0.373,3.250844,4.78,4.78,0.386000,2.000000,7.410000,0.901000,1.000000,1.000000,12.2972
synonymous_variant,TTC5,SILENT,NM_138376.2:p.Ala220Ala/c.660T>G,gcT/gcG,LOW,COSM1128303(1),0.401158,0.4772,rs1953552,,,,-0.9233(T),,chr14,20764585,20764585,A,C,hom,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala220Ala/c.660T>G|440|TTC5|protein_coding|CODING|NM_138376.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.5274,0.4821,0.42,0.26,0.50,,,0.000(P),,0.0000(T),.,1.573249,5.1,-1.63,0.533000,-0.349000,-0.043000,0.996000,0.992000,0.961000,1.3033
missense_variant,TTC5,MISSENSE,NM_138376.2:p.Gln47Arg/c.140A>G,cAg/cGg,MODERATE,COSM1179594(1),0.745607,0.7956,rs3742945,0.78(T),0.0(B),-0.55(N),-1.0079(T),,chr14,20770036,20770036,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln47Arg/c.140A>G|440|TTC5|protein_coding|CODING|NM_138376.2|2|1),"H1ESC:H3K36me3,K562:H3K27ac,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6043,0.8559,0.7406,0.74,0.75,0.73,,0.071602(N),1.000(P),1.6(T),0.0000(T),0.275,-1.008434,4.31,0.384,-0.996000,-0.367000,-0.336000,0.788000,0.892000,0.000000,8.8128
synonymous_variant,PARP2,SILENT,NM_005484.3:p.Tyr377Tyr/c.1131T>C,taT/taC,LOW,,0.510583,0.6002,rs3093930,,,,,,chr14,20824181,20824181,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr364Tyr/c.1092T>C|570|PARP2|protein_coding|CODING|NM_001042618.1|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr377Tyr/c.1131T>C|583|PARP2|protein_coding|CODING|NM_005484.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4724,0.6225,0.675,0.57,0.35,0.67,,,0.000(P),,,.,-0.202879,6.03,2.32,0.533000,0.150000,-0.093000,0.835000,0.422000,0.080000,5.6326
synonymous_variant,TEP1,SILENT,NM_007110.4:p.His911His/c.2733T>C,caT/caC,LOW,,0.995807,1,rs945011,,,,,,chr14,20854734,20854734,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His911His/c.2733T>C|2627|TEP1|protein_coding|CODING|NM_007110.4|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9969,0.9928,0.9881,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,TEP1,SILENT,NM_007110.4:p.Ala716Ala/c.2148G>A,gcG/gcA,LOW,COSM330302(3),0.160144,0.0317,rs872074,,,,,,chr14,20859205,20859205,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala716Ala/c.2148G>A|2627|TEP1|protein_coding|CODING|NM_007110.4|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1452,0.1297,0.1819,0.20,0.24,0.18,,,,,,,,,,,,,,,,
synonymous_variant,TEP1,SILENT,NM_007110.4:p.Arg620Arg/c.1860G>T,cgG/cgT,LOW,COSM3753860(1),0.196286,0.1379,rs2228036,,,,,,chr14,20863677,20863677,C,A,het,synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg620Arg/c.1860G>T|2627|TEP1|protein_coding|CODING|NM_007110.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2127,0.2954,0.3111,0.26,0.13,0.33,,,,,,,,,,,,,,,,
missense_variant,KLHL33,MISSENSE,NM_001109997.2:p.Ala516Thr/c.1546G>A,Gct/Act,MODERATE,,0.645367,0.5972,rs7145318,1(T),0.0(B),0.345(N),-0.9600(T),,chr14,20897064,20897064,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala516Thr/c.1546G>A|533|KLHL33|protein_coding|CODING|NM_001109997.2|4|1),,,,,0.68,0.4957,0.6203,0.62,0.71,0.58,,0.116322(N),1.000(P),-0.65(T),0.0000(T),0.016,-1.210039,4.98,-1.81,-0.254000,-0.418000,.,0.763000,0.001000,.,7.0501
synonymous_variant,KLHL33,SILENT,NM_001109997.2:p.Gln131Gln/c.393G>A,caG/caA,LOW,COSM4147964(1),0.109625,0.0734,rs11160645,,,,,,chr14,20898442,20898442,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln131Gln/c.393G>A|533|KLHL33|protein_coding|CODING|NM_001109997.2|2|1),"HepG2:DNase1,K562:DNase1",,,,0.136,0.1859,0.1302,0.10,0.07,0.12,,,,,,,,,,,,,,,,
synonymous_variant,OSGEP,SILENT,NM_017807.3:p.Leu190Leu/c.570A>G,ctA/ctG,LOW,COSM147732(2),0.495607,0.4276,rs938883,,,,,,chr14,20916958,20916958,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu190Leu/c.570A>G|335|OSGEP|protein_coding|CODING|NM_017807.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4458,0.4121,0.5835,0.56,0.54,0.56,,,,,,,,,,,,,,,,
synonymous_variant,OSGEP,SILENT,NM_017807.3:p.Gln98Gln/c.294A>G,caA/caG,LOW,,0.553115,0.4514,rs2275007,,,,,,chr14,20920250,20920250,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln98Gln/c.294A>G|335|OSGEP|protein_coding|CODING|NM_017807.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5511,0.451,0.6282,0.60,0.61,0.60,,,,,,,,,,,,,,,,
missense_variant,APEX1,MISSENSE,NM_001244249.1:p.Asp148Glu/c.444T>G,gaT/gaG,MODERATE,COSM3753865(1),0.375599,0.4058,rs1130409,1(T),0.0(B),-0.02(N),-1.0266(T),,chr14,20925154,20925154,T,G,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp148Glu/c.444T>G|318|APEX1|protein_coding|CODING|NM_001244249.1|5|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp148Glu/c.444T>G|318|APEX1|protein_coding|CODING|NM_001641.3|5|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp148Glu/c.444T>G|318|APEX1|protein_coding|CODING|NM_080648.2|5|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp148Glu/c.444T>G|318|APEX1|protein_coding|CODING|NM_080649.2|5|1),upstream_gene_variant(MODIFIER||1887||335|OSGEP|protein_coding|CODING|NM_017807.3||1),downstream_gene_variant(MODIFIER||858||284|TMEM55B|protein_coding|CODING|NM_001100814.2||1),downstream_gene_variant(MODIFIER||858||277|TMEM55B|protein_coding|CODING|NM_144568.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K4me2,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2393,0.4352,0.508,0.44,0.37,0.47,,0.000455(N),0.000(P),"-1.31,-1.31,-1.31,-1.31,-1.31,-1.31,-1.31(T,T,T,T,T,T,T)",0.0000(T),0.131,-1.579649,5.5,-2.6,-0.121000,-0.729000,0.107000,0.317000,0.537000,0.976000,6.4421
synonymous_variant,PNP,SILENT,NM_000270.3:p.His20His/c.60C>T,caC/caT,LOW,,0.172125,0.123,rs1049562,,,,,,chr14,20940515,20940515,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His20His/c.60C>T|289|PNP|protein_coding|CODING|NM_000270.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1616,0.1383,0.1918,0.18,0.21,0.17,,,,,,,,,,,,,,,,
missense_variant,PNP,MISSENSE,NM_000270.3:p.Gly51Ser/c.151G>A,Ggt/Agt,MODERATE,COSM147733(2),0.204673,0.2063,rs1049564,,,-1.26(N),-0.9829(T),,chr14,20940606,20940606,G,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly51Ser/c.151G>A|289|PNP|protein_coding|CODING|NM_000270.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000015029.1|RCV000127500.1,,0.1462,0.2104,0.1998,0.20,0.25,0.18,,0.005067(N),1.000(P),,0.0000(T),.,-0.239923,5.54,5.54,-0.254000,1.120000,1.210000,0.741000,0.998000,0.331000,6.5054
synonymous_variant,PNP,SILENT,NM_000270.3:p.Pro57Pro/c.171C>T,ccC/ccT,LOW,COSM147734(1),0.204473,0.2083,rs1130650,,,,,,chr14,20940626,20940626,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro57Pro/c.171C>T|289|PNP|protein_coding|CODING|NM_000270.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1462,0.2104,0.1998,0.20,0.24,0.18,,,,,,,,,,,,,,,,
missense_variant,RNASE9,MISSENSE,NM_001110358.1:p.Ser209Pro/c.625T>C,Tcg/Ccg,MODERATE,COSM4147965(1),0.752995,0.6607,rs1243647,1(T),"0.0,0.0(B,B)",-0.805(N),-0.9945(T),,chr14,21024619,21024619,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser204Pro/c.610T>C|205|RNASE9|protein_coding|CODING|NM_001001673.3|2|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser204Pro/c.610T>C|205|RNASE9|protein_coding|CODING|NM_001110356.1|3|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser204Pro/c.610T>C|205|RNASE9|protein_coding|CODING|NM_001110357.1|3|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser209Pro/c.625T>C|210|RNASE9|protein_coding|CODING|NM_001110358.1|4|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser209Pro/c.625T>C|210|RNASE9|protein_coding|CODING|NM_001110359.1|5|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser209Pro/c.625T>C|210|RNASE9|protein_coding|CODING|NM_001110360.1|4|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser209Pro/c.625T>C|210|RNASE9|protein_coding|CODING|NM_001110361.1|5|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser204Pro/c.610T>C|205|RNASE9|protein_coding|CODING|NM_001289110.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HepG2:H3K27me3",Prostate_cancer_gene_x_gene_interaction,,,0.7853,0.6931,0.7922,0.79,0.80,0.79,,,1.000(P),"2.45,2.45,2.45,2.45,2.43,2.43,2.45,2.45,2.43,2.43(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.039,-1.552402,3.41,-1.08,-0.320000,-0.514000,-0.272000,0.007000,0.000000,0.000000,3.6608
missense_variant,RNASE9,MISSENSE,NM_001110358.1:p.Phe153Ser/c.458T>C,tTt/tCt,MODERATE,,0.577476,0.6607,rs12590446,1(T),"0.004,0.002(B,B)",0.41(N),-1.0169(T),,chr14,21024786,21024786,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe148Ser/c.443T>C|205|RNASE9|protein_coding|CODING|NM_001001673.3|2|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe148Ser/c.443T>C|205|RNASE9|protein_coding|CODING|NM_001110356.1|3|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe148Ser/c.443T>C|205|RNASE9|protein_coding|CODING|NM_001110357.1|3|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe153Ser/c.458T>C|210|RNASE9|protein_coding|CODING|NM_001110358.1|4|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe153Ser/c.458T>C|210|RNASE9|protein_coding|CODING|NM_001110359.1|5|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe153Ser/c.458T>C|210|RNASE9|protein_coding|CODING|NM_001110360.1|4|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe153Ser/c.458T>C|210|RNASE9|protein_coding|CODING|NM_001110361.1|5|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe148Ser/c.443T>C|205|RNASE9|protein_coding|CODING|NM_001289110.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.7526,0.6527,0.7823,0.61,0.28,0.78,,,1.000(P),"-0.46,-0.46,-0.46,-0.46,-0.46,-0.46,-0.46,-0.46,-0.46,-0.46(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.052,-0.807018,3.73,-7.47,-2.899000,-2.947000,-1.912000,0.000000,0.000000,0.000000,5.9714
synonymous_variant,RNASE11,SILENT,NM_145250.3:p.Thr125Thr/c.375A>G,acA/acG,LOW,,0.367812,0.1905,rs1429539,,,,,,chr14,21052259,21052259,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr125Thr/c.375A>G|199|RNASE11|protein_coding|CODING|NM_145250.3|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3885,0.2723,0.3539,0.42,0.50,0.37,,,,,,,,,,,,,,,,
missense_variant,RNASE11,MISSENSE,NM_145250.3:p.Thr74Ser/c.220A>T,Aca/Tca,MODERATE,,0.0700879,0,rs35818240,1(T),0.0(B),-0.205(N),-1.1063(T),,chr14,21052414,21052414,T,A,het,missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr74Ser/c.220A>T|199|RNASE11|protein_coding|CODING|NM_145250.3|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0378,0.0331,0.0596,0.09,0.14,0.06,,0.603655(N),1.000(N),"-0.56,-0.56,-0.56,-0.56,-0.56,-0.56,-0.56,-0.56,-0.56,-0.56,-0.56(T,T,T,T,T,T,T,T,T,T,T)",0.0010(T),0.181,-1.302353,3.8,0.0823,-0.448000,-0.246000,0.060000,0.012000,0.001000,0.374000,2.4174
synonymous_variant,RNASE11,SILENT,NM_145250.3:p.Ile49Ile/c.147T>C,atT/atC,LOW,,0.0704872,0,rs35238496,,,,,,chr14,21052487,21052487,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile49Ile/c.147T>C|199|RNASE11|protein_coding|CODING|NM_145250.3|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0378,0.0331,0.0616,0.09,0.14,0.06,,,,,,,,,,,,,,,,
synonymous_variant,OR6S1,SILENT,NM_001001968.1:p.Gly314Gly/c.942C>T,ggC/ggT,LOW,,0.0958466,0.0704,rs17277515,,,,,,chr14,21108909,21108909,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly314Gly/c.942C>T|331|OR6S1|protein_coding|CODING|NM_001001968.1|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1513,0.1585,0.0785,0.09,0.05,0.10,,,,,,,,,,,,,,,,
synonymous_variant,OR6S1,SILENT,NM_001001968.1:p.Ala227Ala/c.681A>T,gcA/gcT,LOW,,0.984026,1,rs11628297,,,,,,chr14,21109170,21109170,T,A,hom,synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala227Ala/c.681A>T|331|OR6S1|protein_coding|CODING|NM_001001968.1|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,OR6S1,SILENT,NM_001001968.1:p.Ala191Ala/c.573T>A,gcT/gcA,LOW,COSM432810(4),0.452476,0.251,rs11627438,,,,,,chr14,21109278,21109278,A,T,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala191Ala/c.573T>A|331|OR6S1|protein_coding|CODING|NM_001001968.1|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4591,0.5461,0.5338,0.54,0.51,0.56,,,,,,,,,,,,,,,,
missense_variant,OR6S1,MISSENSE,NM_001001968.1:p.Val156Ile/c.466G>A,Gtc/Atc,MODERATE,,0.448482,0.252,rs11622969,0.06(T),0.028(B),0.01(N),-0.9556(T),,chr14,21109385,21109385,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val156Ile/c.466G>A|331|OR6S1|protein_coding|CODING|NM_001001968.1|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4581,0.5375,0.5219,0.53,0.51,0.54,,0.197918(N),1.000(P),1.19(T),0.0000(T),0.009,0.168995,5.76,-0.768,-1.114000,-0.153000,-1.513000,0.050000,0.698000,0.000000,2.6503
synonymous_variant,OR6S1,SILENT,NM_001001968.1:p.Pro60Pro/c.180T>C,ccT/ccC,LOW,COSM3753866(2),0.461062,0.2897,rs11627574,,,,,,chr14,21109671,21109671,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro60Pro/c.180T>C|331|OR6S1|protein_coding|CODING|NM_001001968.1|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4591,0.5461,0.5378,0.54,0.51,0.56,,,,,,,,,,,,,,,,
missense_variant,OR6S1,MISSENSE,NM_001001968.1:p.Thr42Ile/c.125C>T,aCa/aTa,MODERATE,COSM3999213(1),0.460264,0.2897,rs11622794,0.16(T),0.016(B),0.315(N),-1.1171(T),,chr14,21109726,21109726,G,A,hom,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr42Ile/c.125C>T|331|OR6S1|protein_coding|CODING|NM_001001968.1|1|1),"HUVEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4591,0.5461,0.5338,0.54,0.51,0.56,,0.044083(N),1.000(P),7.47(T),0.0000(T),0.087,-0.189020,5.84,1.53,-0.126000,0.403000,1.178000,0.691000,0.498000,0.000000,8.4026
synonymous_variant,EDDM3B,SILENT,NM_022360.4:p.Ser3Ser/c.9G>A,tcG/tcA,LOW,,0.552117,0.7262,rs3827905,,,,,,chr14,21238318,21238318,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser3Ser/c.9G>A|147|EDDM3B|protein_coding|CODING|NM_022360.4|2|1),HUVEC:H3K27me3,,,,0.7157,0.5461,0.6948,0.53,0.29,0.66,,,,,,,,,,,,,,,,
missense_variant,RNASE6,MISSENSE,NM_005615.4:p.Arg89Gln/c.266G>A,cGg/cAg,MODERATE,,0.304912,0.4286,rs1045922,0.63(T),0.003(B),0.895(L),-1.0301(T),,chr14,21250124,21250124,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg89Gln/c.266G>A|150|RNASE6|protein_coding|CODING|NM_005615.4|2|1),"CD4:H3K9me1,CD4:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,GM12878:H3K27ac,CD4:H4K8ac,CD4:H3K27ac,GM06990:H3K4me3,H1ESC:H3K4me1,CD4:H3K4me1,HeLa-S3:H3K27me3,CD4:H4K5ac,HUVEC:H3K4me1,CD4:H3K4me2,GM12878:H3K9ac,GM12878:H3K4me2",,,,0.5051,0.2983,0.2485,0.21,0.13,0.25,,0.107763(N),1.000(P),-0.66(T),0.0000(T),0.006,-0.263495,4.97,-9.94,-2.909000,-3.814000,-2.580000,0.003000,0.000000,0.000000,14.2487
missense_variant,RNASE3,MISSENSE,NM_002935.2:p.Thr124Arg/c.371C>G,aCg/aGg,MODERATE,,0.640575,0.7361,rs2073342,1(T),0.001(B),-2.405(N),-0.9477(T),,chr14,21360216,21360216,C,G,hom,missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr124Arg/c.371C>G|160|RNASE3|protein_coding|CODING|NM_002935.2|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6963,0.8199,0.7197,0.62,0.44,0.72,,0.190493(N),1.000(P),-0.52(T),0.0000(T),0.054,-2.645508,2.38,-3.36,-3.638000,-1.709000,-3.009000,0.000000,0.000000,0.000000,1.3073
missense_variant,SLC39A2,MISSENSE,NM_014579.3:p.Leu43Arg/c.128T>G,cTa/cGa,MODERATE,,0.760383,0.7153,rs2234632,1(T),0.0(B),-0.865(N),-0.9555(T),,chr14,21467913,21467913,T,G,het,"missense_variant(MODERATE|MISSENSE|cTa/cGa|p.Leu43Arg/c.128T>G|85|SLC39A2|protein_coding|CODING|NM_001256588.1|2|1),missense_variant(MODERATE|MISSENSE|cTa/cGa|p.Leu43Arg/c.128T>G|309|SLC39A2|protein_coding|CODING|NM_014579.3|2|1),upstream_gene_variant(MODIFIER||591|||LOC101929718||NON_CODING|NR_110139.1||1)",,,,,0.6595,0.7349,0.6859,0.76,0.91,0.68,,0.073078(N),1.000(P),"0.75,0.75(T,T)",0.0000(T),0.066,-2.864885,5.69,2.8,-0.770000,0.056000,0.394000,0.004000,0.000000,0.000000,1.9498
missense_variant,SLC39A2,MISSENSE,NM_014579.3:p.Phe115Leu/c.343T>C,Ttt/Ctt,MODERATE,,0.319888,0.373,rs2234636,1(T),0.001(B),-0.935(N),-0.9679(T),,chr14,21469151,21469151,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe115Leu/c.343T>C|309|SLC39A2|protein_coding|CODING|NM_014579.3|4|1),3_prime_UTR_variant(MODIFIER||860|c.*80T>C|85|SLC39A2|protein_coding|CODING|NM_001256588.1|4|1),upstream_gene_variant(MODIFIER||1829|||LOC101929718||NON_CODING|NR_110139.1||1)",HepG2:H3K27me3,,,,0.3579,0.487,0.333,0.29,0.18,0.35,,0.802747(N),0.999(P),0.97(T),0.0000(T),0.074,-0.856861,5.7,-10.9,-0.313000,-2.518000,-1.414000,0.412000,0.001000,0.000000,15.4912
missense_variant,RNASE7,MISSENSE,NM_032572.3:p.Ala103Pro/c.307G>C,Gcc/Ccc,MODERATE,,0.826278,0.8601,rs1263872,1(T),0.0(B),-0.91(N),-0.9836(T),,chr14,21511458,21511458,G,C,het,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala103Pro/c.307G>C|156|RNASE7|protein_coding|CODING|NM_032572.3|2|1),intron_variant(MODIFIER|||c.25-19978C>G|367|NDRG2|protein_coding|CODING|NM_001282211.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HSMM:H3K4me1,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.7301,0.9236,0.8936,0.86,0.80,0.88,,0.301183(N),1.000(P),-0.63(T),0.0000(T),0.055,-0.816691,5.09,-1.48,-1.696000,-0.147000,-0.151000,0.003000,0.000000,0.000000,5.2768
missense_variant,RNASE7,MISSENSE,NM_032572.3:p.His116Tyr/c.346C>T,Cat/Tat,MODERATE,COSM1180657(1),0.821086,0.8571,rs1243469,1(T),0.0(B),-2.815(N),-0.9584(T),,chr14,21511497,21511497,C,T,het,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His116Tyr/c.346C>T|156|RNASE7|protein_coding|CODING|NM_032572.3|2|1),intron_variant(MODIFIER|||c.25-20017G>A|367|NDRG2|protein_coding|CODING|NM_001282211.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HSMM:H3K4me1,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.729,0.9222,0.8936,0.85,0.79,0.88,,0.658207(U),1.000(P),-0.51(T),0.0000(T),0.289,-1.081525,5.09,2.67,-0.254000,0.077000,0.170000,0.757000,0.038000,0.049000,6.9703
missense_variant,ARHGEF40,MISSENSE,NM_018071.4:p.Lys293Glu/c.877A>G,Aag/Gag,MODERATE,COSM432827(3),0.117612,0.0298,rs12889267,0.16(T),"0.175,0.699(B,P)",0.695(N),-0.7520(T),,chr14,21542766,21542766,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys293Glu/c.877A>G|1519|ARHGEF40|protein_coding|CODING|NM_018071.4|3|1),5_prime_UTR_variant(MODIFIER||3778|c.-1099A>G|757|ARHGEF40|protein_coding|CODING|NM_001278530.1|3|1),5_prime_UTR_variant(MODIFIER||3778|c.-1293A>G|805|ARHGEF40|protein_coding|CODING|NM_001278529.1|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1933,0.3256,0.1332,0.11,0.03,0.15,,0.002751(N),0.806(P),"4.23,4.18(T,T)",0.0000(T),0.511,2.123470,5.12,3.91,0.459000,1.941000,0.992000,0.269000,1.000000,0.852000,9.8244
missense_variant,ARHGEF40,MISSENSE,NM_018071.4:p.Val956Leu/c.2866G>C,Gtg/Ctg,MODERATE,COSM3749268(4),0.780351,0.5546,rs7143633,1(T),"0.0,0.0,0.0(B,B,B)",-0.895(N),-1.0140(T),,chr14,21549893,21549893,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val242Leu/c.724G>C|805|ARHGEF40|protein_coding|CODING|NM_001278529.1|14|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val242Leu/c.724G>C|757|ARHGEF40|protein_coding|CODING|NM_001278530.1|14|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val956Leu/c.2866G>C|1519|ARHGEF40|protein_coding|CODING|NM_018071.4|14|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8497,0.8963,0.836,0.85,0.81,0.87,,0.000599(N),1.000(P),"4.67,4.62(T,T)",0.0000(T),0.067,-0.743038,5.71,4.76,-0.216000,1.428000,0.545000,0.417000,0.974000,0.310000,12.2401
synonymous_variant,ARHGEF40,SILENT,NM_018071.4:p.Ala1185Ala/c.3555G>A,gcG/gcA,LOW,,0.544728,0.5139,rs1958395,,,,,,chr14,21551058,21551058,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala471Ala/c.1413G>A|805|ARHGEF40|protein_coding|CODING|NM_001278529.1|16|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala471Ala/c.1413G>A|757|ARHGEF40|protein_coding|CODING|NM_001278530.1|16|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1185Ala/c.3555G>A|1519|ARHGEF40|protein_coding|CODING|NM_018071.4|16|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5389,0.4942,0.6193,0.59,0.54,0.61,,,,,,,,,,,,,,,,
missense_variant,ARHGEF40,MISSENSE,NM_018071.4:p.Leu1189Ser/c.3566T>C,tTa/tCa,MODERATE,,0.859225,0.6151,rs1958396,0.91(T),"0.002,0.004,0.0(B,B,B)",-0.345(N),-0.9551(T),,chr14,21551069,21551069,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu475Ser/c.1424T>C|805|ARHGEF40|protein_coding|CODING|NM_001278529.1|16|1),missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu475Ser/c.1424T>C|757|ARHGEF40|protein_coding|CODING|NM_001278530.1|16|1),missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu1189Ser/c.3566T>C|1519|ARHGEF40|protein_coding|CODING|NM_018071.4|16|1)","H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.862,0.9452,0.8807,0.92,0.96,0.91,,0.030209(N),1.000(P),"0.17,0.17(T,T)",0.0000(T),0.03,0.889846,4.93,4.93,-0.119000,1.047000,0.719000,0.559000,0.756000,0.328000,9.4864
synonymous_variant,TMEM253,SILENT,NM_001146683.1:p.Leu90Leu/c.270T>C,ctT/ctC,LOW,,0.639177,0.5357,rs386610321,,,,,,chr14,21570273,21570273,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu90Leu/c.270T>C|217|TMEM253|protein_coding|CODING|NM_001146683.1|5|1),intron_variant(MODIFIER|||c.-84+2397A>G|722|ZNF219|protein_coding|CODING|NM_001102454.1|1|1)","HUVEC:H3K27me3,NHEK:H3K4me1,H1ESC:DNase1,NHEK:DNase1,K562:DNase1",,,,0.5297,0.5893,0.7157,0.71,0.75,0.70,,,,,,,,,,,,,,,,
synonymous_variant,TMEM253,SILENT,NM_001146683.1:p.Ile109Ile/c.327A>C,atA/atC,LOW,,0.800519,0.6012,rs4982408,,,,,,chr14,21570614,21570614,A,C,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile109Ile/c.327A>C|217|TMEM253|protein_coding|CODING|NM_001146683.1|6|1),intron_variant(MODIFIER|||c.-84+2056T>G|722|ZNF219|protein_coding|CODING|NM_001102454.1|1|1)","HUVEC:H3K27me3,NHEK:H3K4me1,H1ESC:H3K4me2,H1ESC:DNase1",,,,0.7055,0.9135,0.834,0.86,0.93,0.84,,,,,,,,,,,,,,,,
missense_variant,OR5AU1,MISSENSE,NM_001004731.1:p.Ile299Val/c.895A>G,Atc/Gtc,MODERATE,COSM3753869(1),0.723243,0.496,rs7145814,1(T),0.0(B),-1.58(N),-0.9525(T),,chr14,21623290,21623290,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile299Val/c.895A>G|362|OR5AU1|protein_coding|CODING|NM_001004731.1|1|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7311,0.696,0.7942,0.80,0.82,0.79,,,1.000(P),9.46(T),0.0000(T),0.057,-2.064153,4.48,2.63,-1.297000,0.160000,1.190000,0.588000,0.251000,0.385000,9.1103
synonymous_variant,OR5AU1,SILENT,NM_001004731.1:p.Asn179Asn/c.537C>T,aaC/aaT,LOW,,0.347843,0.1389,rs7161544,,,,,,chr14,21623648,21623648,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn179Asn/c.537C>T|362|OR5AU1|protein_coding|CODING|NM_001004731.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.3701,0.3501,0.5755,0.51,0.36,0.58,,,,,,,,,,,,,,,,
missense_variant,OR5AU1,MISSENSE,NM_001004731.1:p.Leu117Phe/c.349C>T,Ctc/Ttc,MODERATE,,0.664736,0.4851,rs4982419,0.01(D),1.0(D),1.22(L),-1.2116(T),,chr14,21623836,21623836,G,A,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu117Phe/c.349C>T|362|OR5AU1|protein_coding|CODING|NM_001004731.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7229,0.6916,0.7624,0.74,0.67,0.78,,,0.000(P),6.89(T),0.0000(T),0.3,2.471261,4.34,4.34,0.491000,2.265000,0.954000,0.144000,0.998000,0.914000,14.4122
missense_variant,RPGRIP1,MISSENSE,NM_020366.3:p.Lys192Glu/c.574A>G,Aaa/Gaa,MODERATE,COSM3999220(1),0.477236,0.3224,rs6571751,1(T),0.0(B),-1.24(N),-0.9336(T),,chr14,21770730,21770730,A,G,hom,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys192Glu/c.574A>G|1286|RPGRIP1|protein_coding|CODING|NM_020366.3|4|1),"HepG2:H3K4me2,HUVEC:H3K27me3,HepG2:H3K27ac,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,RCV000086258.1,,0.5961,0.5101,0.501,0.48,0.45,0.50,,0.098365(N),1.000(P),"1.51,1.51,1.51,1.51(T,T,T,T)",0.0000(T),0.12,-2.347412,4.0,3.11,-0.128000,0.668000,1.415000,0.004000,0.062000,0.027000,6.5573
missense_variant,RPGRIP1,MISSENSE,NM_020366.3:p.Ala547Ser/c.1639G>T,Gct/Tct,MODERATE,COSM3753875(1),0.167332,0.004,rs10151259,0.29(T),"0.999,0.747,0.999,0.998(D,P,D,D)",1.64(L),-1.0484(T),,chr14,21790040,21790040,G,T,hom,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala547Ser/c.1639G>T|1286|RPGRIP1|protein_coding|CODING|NM_020366.3|13|1),"HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000005275.2|RCV000086240.1,,0.1963,0.1412,0.2366,0.23,0.20,0.25,,0.004147(N),0.000(P),"-0.1,-0.86,-0.9,-0.9,-0.47,-1.22,-1.28(T,T,T,T,T,T,T)",0.0002(T),0.118,2.344142,4.86,3.04,-0.384000,0.777000,0.774000,0.402000,0.991000,0.990000,5.6994
synonymous_variant,RPGRIP1,SILENT,NM_020366.3:p.Pro599Pro/c.1797G>A,ccG/ccA,LOW,,0.184704,0.0188,rs9322965,0.19(T),0.001(B),,-1.0960(T),,chr14,21792811,21792811,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro599Pro/c.1797G>A|1286|RPGRIP1|protein_coding|CODING|NM_020366.3|14|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000086242.1,,0.2577,0.1427,0.2336,0.23,0.21,0.24,,,1.000(P),-1.27(T),0.0001(T),.,0.899673,5.28,3.17,0.655000,0.534000,-0.363000,0.972000,0.052000,0.000000,2.6329
missense_variant,RPGRIP1,MISSENSE,NM_020366.3:p.Glu1033Gln/c.3097G>C,Gag/Cag,MODERATE,COSM3753876(3),0.295327,0.4246,rs3748361,0.9(T),"0.001,0.001,0.001,0.001,0.001,0.0(B,B,B,B,B,B)",-1.95(N),-0.9105(T),,chr14,21796784,21796784,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu1033Gln/c.3097G>C|1286|RPGRIP1|protein_coding|CODING|NM_020366.3|18|1),splice_region_variant(LOW|||c.3097G>C|1286|RPGRIP1|protein_coding|CODING|NM_020366.3|18|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5307,0.2291,0.3419,0.26,0.07,0.35,,0.607627(N),1.000(P),"-0.01,-0.79,-0.83,-0.83,-0.34,-1.1,-1.1(T,T,T,T,T,T,T)",0.0000(T),0.089,-1.379822,4.74,1.79,-0.153000,1.233000,1.269000,0.022000,0.418000,0.892000,7.5361
synonymous_variant,SUPT16H,SILENT,NM_007192.3:p.Pro522Pro/c.1566A>G,ccA/ccG,LOW,,0.79972,0.8879,rs10138699,,,,,,chr14,21831052,21831052,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro522Pro/c.1566A>G|1047|SUPT16H|protein_coding|CODING|NM_007192.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9182,0.7781,0.9076,0.81,0.63,0.91,,,,,,,,,,,,,,,,
synonymous_variant,SUPT16H,SILENT,NM_007192.3:p.Arg456Arg/c.1368G>A,cgG/cgA,LOW,,0.0453275,0,rs61746713,,,,,,chr14,21831419,21831419,C,T,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg456Arg/c.1368G>A|1047|SUPT16H|protein_coding|CODING|NM_007192.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0706,0.0389,0.1203,0.09,0.03,0.12,,,,,,,,,,,,,,,,
synonymous_variant,CHD8,SILENT,NM_001170629.1:p.Val1159Val/c.3477G>A,gtG/gtA,LOW,,0.907348,0.8869,rs8022395,,,,-1.0397(T),,chr14,21871653,21871653,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val1159Val/c.3477G>A|2581|CHD8|protein_coding|CODING|NM_001170629.1|16|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val880Val/c.2640G>A|2302|CHD8|protein_coding|CODING|NM_020920.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9223,0.8098,0.9274,0.94,0.95,0.94,,,0.000(P),,0.0000(T),.,0.566171,5.42,1.57,-0.269000,0.160000,0.438000,0.996000,1.000000,0.996000,1.9631
synonymous_variant,TOX4,SILENT,NM_014828.2:p.Leu347Leu/c.1041T>C,ctT/ctC,LOW,COSM3999221(1),0.495607,0.6488,rs1060722,,,,,,chr14,21960816,21960816,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu347Leu/c.1041T>C|621|TOX4|protein_coding|CODING|NM_014828.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.3746,0.503,0.49,0.47,0.50,,,,,,,,,,,,,,,,
synonymous_variant,TOX4,SILENT,NM_014828.2:p.Arg398Arg/c.1194G>A,cgG/cgA,LOW,COSM3999222(1),0.495208,0.6488,rs7617,,,,,,chr14,21960969,21960969,G,A,het,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg398Arg/c.1194G>A|621|TOX4|protein_coding|CODING|NM_014828.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.3746,0.502,0.49,0.47,0.50,,,,,,,,,,,,,,,,
synonymous_variant,METTL3,SILENT,NM_019852.3:p.Asn445Asn/c.1335T>C,aaT/aaC,LOW,COSM3999223(1),0.511981,0.3542,rs1139130,,,,,,chr14,21967916,21967916,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn445Asn/c.1335T>C|580|METTL3|protein_coding|CODING|NM_019852.3|7|1),downstream_gene_variant(MODIFIER||597||621|TOX4|protein_coding|CODING|NM_014828.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5194,0.6282,0.5,0.51,0.53,0.50,,,,,,,,,,,,,,,,
missense_variant,SALL2,MISSENSE,NM_005407.2:p.Pro122Ser/c.364C>T,Cca/Tca,MODERATE,,0.798922,0.8185,rs1263811,0.92(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.67(N),-1.0015(T),,chr14,21993498,21993498,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro122Ser/c.364C>T|1007|SALL2|protein_coding|CODING|NM_005407.2|2|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro122Ser/c.364C>T|908|SALL2|protein_coding|CODING|NM_001291446.1|2|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro120Ser/c.358C>T|906|SALL2|protein_coding|CODING|NM_001291447.1|2|1),non_coding_exon_variant(MODIFIER|||n.659C>T||SALL2||CODING|NR_111966.1|2|1),non_coding_exon_variant(MODIFIER|||n.639C>T||SALL2||CODING|NR_111967.1|2|1)","H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27ac,H1ESC:H3K4me3,H1ESC:H4K5ac,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.8313,0.8631,0.8579,0.81,0.71,0.86,,0.294290(N),1.000(P),"3.86,1.63,1.66,3.61,1.68,1.86(T,T,T,T,T,T)",0.0000(T),0.167,-2.113110,4.55,0.975,-0.360000,0.075000,0.023000,0.740000,0.009000,0.000000,8.4157
missense_variant,OR4E2,MISSENSE,NM_001001912.2:p.Val118Met/c.352G>A,Gtg/Atg,MODERATE,,0.720647,0.499,rs2874103,1(T),0.0(B),-3.91(N),-0.9842(T),,chr14,22133648,22133648,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val118Met/c.352G>A|313|OR4E2|protein_coding|CODING|NM_001001912.2|1|1),HepG2:H3K27me3,,,,0.5593,0.7046,0.8141,0.85,0.91,0.82,,0.000306(N),1.000(P),5.7(T),0.0000(T),0.092,-1.419766,5.6,5.6,-0.352000,0.955000,5.930000,0.250000,0.994000,1.000000,9.9322
missense_variant,OR4E2,MISSENSE,NM_001001912.2:p.Gln234Arg/c.701A>G,cAg/cGg,MODERATE,,0.721446,0.498,rs970382,1(T),0.001(B),-0.505(N),-0.9457(T),,chr14,22133997,22133997,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln234Arg/c.701A>G|313|OR4E2|protein_coding|CODING|NM_001001912.2|1|1),HepG2:H3K27me3,,,,0.5593,0.7046,0.8151,0.85,0.92,0.82,,0.066391(N),1.000(P),8.8(T),0.0000(T),0.004,-2.736271,5.59,3.78,-2.197000,0.422000,-1.734000,0.120000,0.709000,0.000000,5.3069
missense_variant,OXA1L,MISSENSE,NM_005015.3:p.Ala104Val/c.311C>T,gCa/gTa,MODERATE,,0.771765,0.869,rs8572,0.04(D),0.001(B),,-1.0806(T),,chr14,23236524,23236524,C,T,hom,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala104Val/c.311C>T|495|OXA1L|protein_coding|CODING|NM_005015.3|2|1),"CD4:H3K9me1,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,K562:Gabp,HSMM:H3K9ac,IMR90:H3K36me3,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1",,,,0.7883,0.9121,0.8489,0.77,0.62,0.85,,0.341522(N),1.000(P),"1.42,1.51,1.48(T,T,T)",0.0000(T),0.04,2.136213,5.2,1.35,-1.551000,-0.041000,-0.034000,0.000000,0.000000,0.000000,5.4078
synonymous_variant,OXA1L,SILENT,NM_005015.3:p.Arg407Arg/c.1221T>A,cgT/cgA,LOW,,0.203275,0.1538,rs8786,,,,,,chr14,23240328,23240328,T,A,hom,synonymous_variant(LOW|SILENT|cgT/cgA|p.Arg407Arg/c.1221T>A|495|OXA1L|protein_coding|CODING|NM_005015.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3732,0.2075,0.2594,0.22,0.10,0.28,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A7,SILENT,NM_001126105.2:p.Lys509Lys/c.1527A>G,aaA/aaG,LOW,,0.785543,0.9296,rs1061040,,,,,,chr14,23242828,23242828,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys509Lys/c.1527A>G|511|SLC7A7|protein_coding|CODING|NM_001126105.2|11|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys509Lys/c.1527A>G|511|SLC7A7|protein_coding|CODING|NM_001126106.2|11|1),downstream_gene_variant(MODIFIER||1830||495|OXA1L|protein_coding|CODING|NM_005015.3||1),non_coding_exon_variant(MODIFIER|||n.2142A>G||SLC7A7||CODING|NR_040448.1|10|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8947,0.902,0.8976,0.77,0.51,0.90,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A7,SILENT,NM_001126105.2:p.Ser53Ser/c.159G>A,tcG/tcA,LOW,COSM3753883(2),0.60603,0.7857,rs1805059,,,,,,chr14,23282449,23282449,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser53Ser/c.159G>A|511|SLC7A7|protein_coding|CODING|NM_001126105.2|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser53Ser/c.159G>A|511|SLC7A7|protein_coding|CODING|NM_001126106.2|3|1),non_coding_exon_variant(MODIFIER|||n.774G>A||SLC7A7||CODING|NR_040448.1|2|1)","GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.5072,0.7104,0.5964,0.56,0.48,0.60,,,,,,,,,,,,,,,,
missense_variant,MRPL52,MISSENSE,NM_178336.2:p.Gly5Val/c.14G>T,gGg/gTg,MODERATE,COSM3753884(1),0.514177,0.5516,rs1135641,0.11(T),"0.05,0.093,0.144(B,B,B)",1.39(L),-0.9373(T),,chr14,23299135,23299135,G,T,hom,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly5Val/c.14G>T|123|MRPL52|protein_coding|CODING|NM_178336.2|1|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly5Val/c.14G>T|122|MRPL52|protein_coding|CODING|NM_180982.2|1|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly5Val/c.14G>T|87|MRPL52|protein_coding|CODING|NM_181307.2|1|1),5_prime_UTR_variant(MODIFIER||3512|c.-172G>T|64|MRPL52|protein_coding|CODING|NM_181306.2|1|1),5_prime_UTR_variant(MODIFIER||3512|c.-347G>T|64|MRPL52|protein_coding|CODING|NM_181304.2|1|1),5_prime_UTR_variant(MODIFIER||3512|c.-273G>T|64|MRPL52|protein_coding|CODING|NM_181305.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,GM12878:ZBTB33,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:ETS1,CD4:MOF,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,K562:Sirt6,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:FAIRE,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.5072,0.3862,0.5129,0.52,0.53,0.51,,0.392413(N),1.000(P),"1.92,1.92,1.92,1.92,1.92(T,T,T,T,T)",0.0000(T),0.567,2.637096,5.27,-1.72,-2.119000,-0.184000,-0.056000,0.001000,0.000000,0.000000,6.902
missense_variant,MRPL52,MISSENSE,NM_178336.2:p.Phe9Leu/c.25T>C,Ttc/Ctc,MODERATE,,0.00339457,0,rs146757783,0.7(T),"0.0,0.0,0.002(B,B,B)",-0.895(N),-1.0084(T),,chr14,23299146,23299146,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe9Leu/c.25T>C|123|MRPL52|protein_coding|CODING|NM_178336.2|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe9Leu/c.25T>C|122|MRPL52|protein_coding|CODING|NM_180982.2|1|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe9Leu/c.25T>C|87|MRPL52|protein_coding|CODING|NM_181307.2|1|1),5_prime_UTR_variant(MODIFIER||3501|c.-161T>C|64|MRPL52|protein_coding|CODING|NM_181306.2|1|1),5_prime_UTR_variant(MODIFIER||3501|c.-336T>C|64|MRPL52|protein_coding|CODING|NM_181304.2|1|1),5_prime_UTR_variant(MODIFIER||3501|c.-262T>C|64|MRPL52|protein_coding|CODING|NM_181305.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,GM12878:ZBTB33,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:ETS1,CD4:MOF,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,K562:Sirt6,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:FAIRE,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0,0.0058,0.0099,0.00,0.00,0.01,,0.003437(N),1.000(N),"1.9,1.9,1.9,1.9,1.9(T,T,T,T,T)",0.0164(T),0.502,0.106724,5.27,-0.197,0.374000,0.015000,-0.652000,0.016000,0.000000,0.000000,7.8505
missense_variant,MRPL52,MISSENSE,NM_178336.2:p.Val19Ala/c.56T>C,gTa/gCa,MODERATE,,0.867612,0.998,rs4982685,0.94(T),"0.0,0.0,0.0(B,B,B)",-0.55(N),-1.0029(T),,chr14,23299286,23299286,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val19Ala/c.56T>C|123|MRPL52|protein_coding|CODING|NM_178336.2|2|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val19Ala/c.56T>C|87|MRPL52|protein_coding|CODING|NM_181307.2|2|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val18Ala/c.53T>C|122|MRPL52|protein_coding|CODING|NM_180982.2|2|1),5_prime_UTR_variant(MODIFIER||3361|c.-196T>C|64|MRPL52|protein_coding|CODING|NM_181304.2|1|1),5_prime_UTR_variant(MODIFIER||3361|c.-122T>C|64|MRPL52|protein_coding|CODING|NM_181305.2|1|1),5_prime_UTR_variant(MODIFIER||3361|c.-122T>C|64|MRPL52|protein_coding|CODING|NM_181306.2|2|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ",,,,0.8088,0.866,0.84,0.84,0.83,0.84,,0.932509(N),1.000(P),"1.71,1.71,1.71,1.71,1.71(T,T,T,T,T)",0.0000(T),0.454,-1.411479,5.54,-0.46,-0.128000,-0.143000,-0.341000,0.003000,0.001000,0.001000,4.6855
missense_variant,MMP14,MISSENSE,NM_004995.3:p.Pro8Ser/c.22C>T,Ccc/Tcc,MODERATE,COSM432856(3),0.867612,0.998,rs1042703,0.64(T),0.0(B),0(N),-0.9928(T),,chr14,23306048,23306048,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro8Ser/c.22C>T|582|MMP14|protein_coding|CODING|NM_004995.3|1|1),downstream_gene_variant(MODIFIER||1802||123|MRPL52|protein_coding|CODING|NM_178336.2||1),downstream_gene_variant(MODIFIER||1802||122|MRPL52|protein_coding|CODING|NM_180982.2||1),downstream_gene_variant(MODIFIER||1802||64|MRPL52|protein_coding|CODING|NM_181304.2||1),downstream_gene_variant(MODIFIER||1802||64|MRPL52|protein_coding|CODING|NM_181305.2||1),downstream_gene_variant(MODIFIER||1802||64|MRPL52|protein_coding|CODING|NM_181306.2||1),downstream_gene_variant(MODIFIER||1802||87|MRPL52|protein_coding|CODING|NM_181307.2||1)","NHEK:H3K9ac,NHEK:H3K27ac,HepG2:H3K4me2,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,CD4:H4K91ac,HSMM:H3K27ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,IMR90:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HUVEC:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8098,0.866,0.839,0.83,0.83,0.84,,0.927277(N),1.000(P),"2.55,1.05(T,T)",0.0000(T),0.226,1.864527,4.53,2.51,-0.254000,0.168000,-0.291000,0.982000,0.999000,0.030000,1.7273
synonymous_variant,MMP14,SILENT,NM_004995.3:p.Pro259Pro/c.777C>G,ccC/ccG,LOW,,0.16274,0.13,rs2236302,,,,,,chr14,23312554,23312554,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro259Pro/c.777C>G|582|MMP14|protein_coding|CODING|NM_004995.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.0695,0.1383,0.1163,0.17,0.29,0.11,,,,,,,,,,,,,,,,
missense_variant,MMP14,MISSENSE,NM_004995.3:p.Asp273Asn/c.817G>A,Gat/Aat,MODERATE,COSM3753885(1),0.109824,0.0258,rs1042704,0.25(T),0.004(B),1.06(L),-1.0007(T),,chr14,23312594,23312594,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp273Asn/c.817G>A|582|MMP14|protein_coding|CODING|NM_004995.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.226,0.1311,0.1988,0.15,0.04,0.20,,0.000009(D),0.000(P),2.06(T),0.0000(T),0.031,1.081018,5.6,5.6,0.563000,2.644000,4.763000,0.140000,0.979000,1.000000,18.3853
synonymous_variant,RBM23,SILENT,NM_001077351.1:p.Ile198Ile/c.594C>T,atC/atT,LOW,COSM4147999(1),0.516174,0.8016,rs2295680,,,,,,chr14,23374435,23374435,G,A,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile198Ile/c.594C>T|439|RBM23|protein_coding|CODING|NM_001077351.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile164Ile/c.492C>T|405|RBM23|protein_coding|CODING|NM_001077352.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile182Ile/c.546C>T|423|RBM23|protein_coding|CODING|NM_018107.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.6095,0.5815,0.42,0.13,0.56,,,,,,,,,,,,,,,,
synonymous_variant,RBM23,SILENT,NM_001077351.1:p.Arg136Arg/c.408G>A,agG/agA,LOW,COSM4148000(1),0.515575,0.8016,rs2295682,,,,,,chr14,23374862,23374862,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg136Arg/c.408G>A|439|RBM23|protein_coding|CODING|NM_001077351.1|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg120Arg/c.360G>A|423|RBM23|protein_coding|CODING|NM_018107.4|5|1),intron_variant(MODIFIER|||c.354-200G>A|405|RBM23|protein_coding|CODING|NM_001077352.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.6095,0.5805,0.43,0.13,0.56,,,,,,,,,,,,,,,,
missense_variant,ACIN1,MISSENSE,NM_014977.3:p.Ser467Pro/c.1399T>C,Tct/Cct,MODERATE,COSM3753892(1),0.428315,0.3948,rs1885097,0.02(D),"0.004,0.002,0.003(B,B,B)",0.805(L),-0.9265(T),,chr14,23549319,23549319,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser467Pro/c.1399T>C|1328|ACIN1|protein_coding|CODING|NM_001164814.1|6|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser427Pro/c.1279T>C|1301|ACIN1|protein_coding|CODING|NM_001164815.1|5|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser467Pro/c.1399T>C|1341|ACIN1|protein_coding|CODING|NM_014977.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4959,0.3573,0.3777,0.45,0.51,0.41,,0.155860(N),0.158(P),"1.9,1.9,1.9(T,T,T)",0.0000(T),0.429,0.165752,4.98,-0.281,0.528000,-0.196000,-0.216000,0.901000,0.091000,0.012000,7.1604
missense_variant,ACIN1,MISSENSE,NM_014977.3:p.Ala447Pro/c.1339G>C,Gct/Cct,MODERATE,,0.999601,1,rs941719,1(T),"0.0,0.0,0.0(B,B,B)",-0.805(N),-0.9394(T),,chr14,23549379,23549379,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala447Pro/c.1339G>C|1328|ACIN1|protein_coding|CODING|NM_001164814.1|6|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala407Pro/c.1219G>C|1301|ACIN1|protein_coding|CODING|NM_001164815.1|5|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala447Pro/c.1339G>C|1341|ACIN1|protein_coding|CODING|NM_014977.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,0.998,1.00,1.00,1.00,,0.001397(N),0.000(P),"2.71,2.71,2.71(T,T,T)",0.0000(T),0.219,0.037904,5.42,5.42,-0.127000,1.539000,2.783000,0.992000,0.998000,1.000000,12.2796
missense_variant,ACIN1,MISSENSE,NM_014977.3:p.Ile311Met/c.933A>G,atA/atG,MODERATE,COSM3753894(1),0.500799,0.4554,rs3811182,0.25(T),"0.002,0.001(B,B)",-0.55(N),-1.0132(T),,chr14,23549785,23549785,T,C,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile311Met/c.933A>G|1328|ACIN1|protein_coding|CODING|NM_001164814.1|6|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile271Met/c.813A>G|1301|ACIN1|protein_coding|CODING|NM_001164815.1|5|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile311Met/c.933A>G|1341|ACIN1|protein_coding|CODING|NM_014977.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5102,0.3689,0.3777,0.49,0.65,0.41,,0.634812(N),1.000(P),"2.34,2.34,2.34(T,T,T)",0.0000(T),0.041,-3.379418,4.16,0.113,-2.211000,-0.194000,-3.042000,0.185000,0.000000,0.000000,3.2091
missense_variant,ACIN1,MISSENSE,NM_014977.3:p.Asn20Ser/c.59A>G,aAt/aGt,MODERATE,,0.00698882,0.001,rs61745081,0(D),"0.269,0.138(B,B)",0(N),-1.0834(T),,chr14,23564437,23564437,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn20Ser/c.59A>G|1328|ACIN1|protein_coding|CODING|NM_001164814.1|1|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn20Ser/c.59A>G|1301|ACIN1|protein_coding|CODING|NM_001164815.1|1|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn20Ser/c.59A>G|1341|ACIN1|protein_coding|CODING|NM_014977.3|1|1),upstream_gene_variant(MODIFIER||246||140|C14orf119|protein_coding|CODING|NM_017924.3||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,HepG2:Sin3Ak20,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HNF4G,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:FAIRE,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.0102,0.0159,0.0119,0.01,0.00,0.02,,0.001657(N),1.000(D),"2.37,2.12,2.36(T,T,T)",0.0137(T),0.081,4.021616,5.45,4.3,0.482000,2.288000,2.004000,0.997000,1.000000,1.000000,8.5617
synonymous_variant,SLC7A8,SILENT,NM_012244.3:p.Tyr390Tyr/c.1170T>C,taT/taC,LOW,,0.670927,0.8075,rs7157021,0.13(T),,,-1.0173(T),,chr14,23598952,23598952,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr285Tyr/c.855T>C|430|SLC7A8|protein_coding|CODING|NM_001267036.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr166Tyr/c.498T>C|311|SLC7A8|protein_coding|CODING|NM_001267037.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr390Tyr/c.1170T>C|535|SLC7A8|protein_coding|CODING|NM_012244.3|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr187Tyr/c.561T>C|332|SLC7A8|protein_coding|CODING|NM_182728.2|7|1),non_coding_exon_variant(MODIFIER|||n.727T>C||SLC7A8||CODING|NR_049767.1|5|1)","H1ESC:H3K36me3,K562:H3K4me1,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.5849,0.6931,0.5378,0.59,0.69,0.54,,,0.000(P),,0.0000(T),.,0.974549,5.86,-3.17,-1.615000,-1.484000,-0.777000,0.870000,0.617000,0.035000,14.8732
synonymous_variant,SLC7A8,SILENT,NM_012244.3:p.Ser382Ser/c.1146C>T,agC/agT,LOW,COSM3999227(1),0.104633,0.1438,rs17183863,0.48(T),,,,,chr14,23598976,23598976,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser277Ser/c.831C>T|430|SLC7A8|protein_coding|CODING|NM_001267036.1|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser158Ser/c.474C>T|311|SLC7A8|protein_coding|CODING|NM_001267037.1|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser382Ser/c.1146C>T|535|SLC7A8|protein_coding|CODING|NM_012244.3|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser179Ser/c.537C>T|332|SLC7A8|protein_coding|CODING|NM_182728.2|7|1),non_coding_exon_variant(MODIFIER|||n.703C>T||SLC7A8||CODING|NR_049767.1|5|1)","H1ESC:H3K36me3,K562:H3K4me1,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.09,0.0778,0.0606,0.09,0.14,0.07,,,0.000(P),,,.,1.110304,5.86,-9.58,-1.727000,-2.000000,-2.118000,0.953000,0.616000,0.000000,20.7128
synonymous_variant,HOMEZ,SILENT,NM_020834.2:p.Thr56Thr/c.168G>C,acG/acC,LOW,,0.182508,0.1766,rs1057119,,,,,,chr14,23746269,23746269,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr56Thr/c.168G>C|550|HOMEZ|protein_coding|CODING|NM_020834.2|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1902,0.2104,0.2624,0.18,0.12,0.22,,,,,,,,,,,,,,,,
missense_variant,BCL2L2-PABPN1,MISSENSE,NM_001199864.1:p.Gln133Arg/c.398A>G,cAg/cGg,MODERATE,COSM4148013(1),0.999401,1,rs910332,0.22(T),"0.0,0.001(B,B)",-0.75(N),-1.0108(T),,chr14,23777374,23777374,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln133Arg/c.398A>G|193|BCL2L2|protein_coding|CODING|NM_001199839.1|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln133Arg/c.398A>G|333|BCL2L2-PABPN1|protein_coding|CODING|NM_001199864.1|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln133Arg/c.398A>G|193|BCL2L2|protein_coding|CODING|NM_004050.4|3|1)","NHEK:H3K27ac,H1ESC:H3K36me3,HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,1,1,0.997,1.00,1.00,1.00,,0.624966(N),1.000(P),"1.1,2.77,2.77,2.77,1.1,2.77(T,T,T,T,T,T)",0.0000(T),0.239,-0.201511,5.92,1.43,-0.733000,0.102000,2.443000,0.593000,0.053000,0.977000,8.1466
synonymous_variant,EFS,SILENT,NM_005864.3:p.Leu433Leu/c.1299G>A,ctG/ctA,LOW,COSM3753905(1),0.455272,0.3036,rs2231809,,,,,,chr14,23826822,23826822,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu264Leu/c.792G>A|392|EFS|protein_coding|CODING|NM_001277174.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu433Leu/c.1299G>A|561|EFS|protein_coding|CODING|NM_005864.3|6|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu340Leu/c.1020G>A|468|EFS|protein_coding|CODING|NM_032459.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3753,0.2493,0.2734,0.46,0.78,0.30,,,,,,,,,,,,,,,,
missense_variant,EFS,MISSENSE,NM_005864.3:p.Thr7Ala/c.19A>G,Acc/Gcc,MODERATE,COSM3721607(1),0.455671,0.3046,rs2231798,0.64(T),0.0(B),0.675(N),-1.0077(T),,chr14,23830042,23830042,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr7Ala/c.19A>G|561|EFS|protein_coding|CODING|NM_005864.3|2|1),splice_region_variant(LOW|||c.19A>G|561|EFS|protein_coding|CODING|NM_005864.3|2|1),intron_variant(MODIFIER|||c.19-552A>G|392|EFS|protein_coding|CODING|NM_001277174.1|1|1),intron_variant(MODIFIER|||c.19-552A>G|468|EFS|protein_coding|CODING|NM_032459.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,K562:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K36me3,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF",,,,0.3753,0.2478,0.2763,0.46,0.77,0.30,,0.000051(N),0.000(P),0.5(T),0.0000(T),0.017,0.331223,4.99,4.99,-0.213000,1.496000,1.376000,0.902000,1.000000,1.000000,11.7333
synonymous_variant,IL25,SILENT,NM_022789.3:p.Arg142Arg/c.424C>A,Cgg/Agg,LOW,,0.266973,0.2639,rs79877597,,,,,,chr14,23844979,23844979,C,A,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg142Arg/c.424C>A|177|IL25|protein_coding|CODING|NM_022789.3|2|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg126Arg/c.376C>A|161|IL25|protein_coding|CODING|NM_172314.1|3|1),upstream_gene_variant(MODIFIER||1038||125|CMTM5|protein_coding|CODING|NM_001037288.1||1),upstream_gene_variant(MODIFIER||1038||105|CMTM5|protein_coding|CODING|NM_001288744.1||1),upstream_gene_variant(MODIFIER||1038||74|CMTM5|protein_coding|CODING|NM_001288745.1||1),upstream_gene_variant(MODIFIER||1038||223|CMTM5|protein_coding|CODING|NM_001288746.1||1),upstream_gene_variant(MODIFIER||1038||156|CMTM5|protein_coding|CODING|NM_138460.2||1)","H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2096,0.1974,0.2157,0.26,0.37,0.21,,,,,,,,,,,,,,,,
synonymous_variant,CMTM5,SILENT,NM_001288746.1:p.Asp184Asp/c.552C>T,gaC/gaT,LOW,COSM3753906(1),0.509385,0.256,rs723840,,,,,,chr14,23848311,23848311,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp66Asp/c.198C>T|105|CMTM5|protein_coding|CODING|NM_001288744.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp184Asp/c.552C>T|223|CMTM5|protein_coding|CODING|NM_001288746.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp117Asp/c.351C>T|156|CMTM5|protein_coding|CODING|NM_138460.2|3|1),intron_variant(MODIFIER|||c.127-197C>T|74|CMTM5|protein_coding|CODING|NM_001288745.1|1|1),intron_variant(MODIFIER|||c.280-197C>T|125|CMTM5|protein_coding|CODING|NM_001037288.1|2|1)","GM06990:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4499,0.3674,0.4742,0.57,0.78,0.47,,,,,,,,,,,,,,,,
synonymous_variant,MYH6,SILENT,NM_002471.3:p.Ala1753Ala/c.5259C>T,gcC/gcT,LOW,,0.0363419,0.001,rs8004990,,,,,,chr14,23854155,23854155,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1753Ala/c.5259C>T|1939|MYH6|protein_coding|CODING|NM_002471.3|35|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000037528.1,,0.0256,0.0389,0.1014,0.09,0.03,0.12,,,,,,,,,,,,,,,,
synonymous_variant,MYH6,SILENT,NM_002471.3:p.Asp1660Asp/c.4980C>T,gaC/gaT,LOW,,0.0365415,0.001,rs382872,,,,,,chr14,23855320,23855320,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1660Asp/c.4980C>T|1939|MYH6|protein_coding|CODING|NM_002471.3|34|1),"GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,RCV000037524.1,,0.0256,0.0389,0.1014,0.09,0.03,0.12,,,,,,,,,,,,,,,,
synonymous_variant,MYH6,SILENT,NM_002471.3:p.Ala1638Ala/c.4914T>C,gcT/gcC,LOW,,0.492812,0.2569,rs178640,,,,,,chr14,23855569,23855569,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1638Ala/c.4914T>C|1939|MYH6|protein_coding|CODING|NM_002471.3|33|1),"GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000037521.1,,0.4673,0.3718,0.4891,0.55,0.69,0.49,,,,,,,,,,,,,,,,
synonymous_variant,MYH6,SILENT,NM_002471.3:p.Ser1337Ser/c.4011G>A,tcG/tcA,LOW,,0.0347444,0,rs451794,,,,,,chr14,23858232,23858232,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1337Ser/c.4011G>A|1939|MYH6|protein_coding|CODING|NM_002471.3|29|1),upstream_gene_variant(MODIFIER||357|||MIR208A||NON_CODING|NR_029595.1||1)","GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000037494.1,,0.0266,0.0432,0.1064,0.09,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,MYH6,MISSENSE,NM_002471.3:p.Ala1130Thr/c.3388G>A,Gcc/Acc,MODERATE,COSM3753907(3),0.0728834,0.0605,rs28730771,0.24(T),0.713(P),1.9(L),-0.8773(T),,chr14,23859610,23859610,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1130Thr/c.3388G>A|1939|MYH6|protein_coding|CODING|NM_002471.3|26|1),upstream_gene_variant(MODIFIER||1735|||MIR208A||NON_CODING|NR_029595.1||1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:E2F6,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000037476.1,,0.0726,0.121,0.1352,,,,,,0.004(P),"-1.66,-1.66(D,D)",0.0098(T),0.275,3.634015,4.25,3.35,0.561000,0.888000,1.165000,0.989000,0.861000,0.478000,9.869
missense_variant,MYH6,MISSENSE,NM_002471.3:p.Val1101Ala/c.3302T>C,gTg/gCg,MODERATE,COSM3753908(2),0.3748,0.1597,rs365990,1(T),0.0(B),-0.935(N),-0.9488(T),,chr14,23861811,23861811,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1101Ala/c.3302T>C|1939|MYH6|protein_coding|CODING|NM_002471.3|25|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3","Heart_rate,Electrocardiographic_traits",RCV000037473.1,,0.318,0.2925,0.3489,0.46,0.62,0.37,,,1.000(P),"-0.95,-0.95(T,T)",0.0000(T),0.021,-0.193522,4.69,4.69,-0.374000,1.118000,2.250000,0.607000,0.996000,0.072000,9.4753
synonymous_variant,MYH6,SILENT,NM_002471.3:p.Glu137Glu/c.411G>A,gaG/gaA,LOW,,0.154353,0.0675,rs2277474,,,,,,chr14,23874523,23874523,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu137Glu/c.411G>A|1939|MYH6|protein_coding|CODING|NM_002471.3|5|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000037497.2,,0.1708,0.1513,0.2485,0.23,0.17,0.26,,,,,,,,,,,,,,,,
synonymous_variant,MYH7,SILENT,NM_000257.3:p.Ala1702Ala/c.5106G>A,gcG/gcA,LOW,,0.117612,0.0188,rs3729830,,,,,,chr14,23884889,23884889,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1702Ala/c.5106G>A|1935|MYH7|protein_coding|CODING|NM_000257.3|35|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000035950.2,,0.0808,0.098,0.1262,0.16,0.22,0.13,,,,,,,,,,,,,,,,
synonymous_variant,MYH7,SILENT,NM_000257.3:p.Glu1117Glu/c.3351G>A,gaG/gaA,LOW,,0.00119808,0,rs45554236,,,,,,chr14,23889429,23889429,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1117Glu/c.3351G>A|1935|MYH7|protein_coding|CODING|NM_000257.3|27|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000035850.1,,0,0.0014,0.005,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,MYH7,SILENT,NM_000257.3:p.Ile989Ile/c.2967T>C,atT/atC,LOW,COSM147748(2),0.376398,0.1667,rs7157716,,,,,,chr14,23892888,23892888,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile989Ile/c.2967T>C|1935|MYH7|protein_coding|CODING|NM_000257.3|24|1),"IMR90:H3K27me3,HepG2:H3K27me3",,RCV000035835.2|RCV000126991.1,,0.2618,0.2334,0.3111,0.45,0.70,0.33,,,,,,,,,,,,,,,,
synonymous_variant,MYH7,SILENT,NM_000257.3:p.Lys365Lys/c.1095G>A,aaG/aaA,LOW,COSM3753909(1),0.0796725,0.001,rs735711,,,,,,chr14,23899027,23899027,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys365Lys/c.1095G>A|1935|MYH7|protein_coding|CODING|NM_000257.3|12|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000035697.2|RCV000127021.1,,0.0286,0.0706,0.1402,0.15,0.14,0.15,,,,,,,,,,,,,,,,
synonymous_variant,MYH7,SILENT,NM_000257.3:p.Thr63Thr/c.189C>T,acC/acT,LOW,COSM3753910(1),0.520367,0.4137,rs2069540,,,,,,chr14,23902753,23902753,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr63Thr/c.189C>T|1935|MYH7|protein_coding|CODING|NM_000257.3|3|1),"GM06990:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,K562:Rad21,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,RCV000035752.2|RCV000127010.1,,0.5869,0.4063,0.4851,0.53,0.61,0.48,,,,,,,,,,,,,,,,
synonymous_variant,NGDN,SILENT,NM_001042635.1:p.Val90Val/c.270G>A,gtG/gtA,LOW,,0.60024,0.6379,rs2236260,,,,-1.0106(T),,chr14,23944505,23944505,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val90Val/c.270G>A|315|NGDN|protein_coding|CODING|NM_001042635.1|4|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val90Val/c.270G>A|311|NGDN|protein_coding|CODING|NM_015514.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7025,0.6499,0.7893,0.64,0.41,0.76,,,0.000(P),,0.0000(T),.,0.981034,6.17,2.4,0.655000,0.190000,1.025000,0.999000,1.000000,1.000000,10.5374
synonymous_variant,NGDN,SILENT,NM_001042635.1:p.Arg93Arg/c.279C>A,cgC/cgA,LOW,,0.678315,0.6409,rs2236261,,,,-1.0433(T),,chr14,23944514,23944514,C,A,hom,"synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg93Arg/c.279C>A|315|NGDN|protein_coding|CODING|NM_001042635.1|4|1),synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg93Arg/c.279C>A|311|NGDN|protein_coding|CODING|NM_015514.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.726,0.6873,0.8479,0.74,0.57,0.83,,,0.000(P),,0.0000(T),.,1.055521,6.17,3.13,0.655000,0.948000,0.337000,0.998000,1.000000,0.998000,9.0798
missense_variant,ZFHX2,MISSENSE,NM_033400.2:p.Ser2137Arg/c.6409A>C,Agt/Cgt,MODERATE,,0.254593,0.2431,rs223124,0.05(D),0.034(B),1.39(L),-1.0821(T),,chr14,23992742,23992742,T,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Cgt|p.Ser2137Arg/c.6409A>C|2572|ZFHX2|protein_coding|CODING|NM_033400.2|9|1),intron_variant(MODIFIER|||n.465+9117T>G||THTPA||CODING|NR_046051.1|4|1),intron_variant(MODIFIER|||n.245+9117T>G||THTPA||CODING|NR_046052.1|2|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1616,0.353,0.2276,,,,,0.001030(N),1.000(P),-1.25(T),0.0000(T),0.246,1.135054,4.67,1.05,0.379000,0.027000,2.174000,0.434000,0.590000,0.212000,7.955
missense_variant,ZFHX2,MISSENSE,NM_033400.2:p.Val1545Ala/c.4634T>C,gTt/gCt,MODERATE,,0.383786,0.251,rs4982766,1(T),0.0(B),-1.39(N),-0.9480(T),,chr14,23994517,23994517,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1545Ala/c.4634T>C|2572|ZFHX2|protein_coding|CODING|NM_033400.2|9|1),intron_variant(MODIFIER|||n.465+10892A>G||THTPA||CODING|NR_046051.1|4|1),intron_variant(MODIFIER|||n.245+10892A>G||THTPA||CODING|NR_046052.1|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1452,0.4035,0.2127,,,,,0.004644(N),0.000(P),-1.15(T),0.0000(T),0.059,-1.582598,3.77,1.85,-0.374000,0.280000,1.315000,0.426000,0.986000,0.146000,4.321
missense_variant,ZFHX2,MISSENSE,NM_033400.2:p.Pro550Thr/c.1648C>A,Cca/Aca,MODERATE,COSM3999228(1),0.0940495,0.0794,rs3742489,0.65(T),,0.345(N),-1.0497(T),,chr14,24002887,24002887,G,T,het,"missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro550Thr/c.1648C>A|2572|ZFHX2|protein_coding|CODING|NM_033400.2|2|1),intron_variant(MODIFIER|||n.465+19262G>T||THTPA||CODING|NR_046051.1|4|1),intron_variant(MODIFIER|||n.245+19262G>T||THTPA||CODING|NR_046052.1|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1738,0.0865,0.1272,,,,,,0.919(P),-1.27(T),0.0029(T),0.107,0.549057,4.7,2.72,-0.142000,1.206000,1.177000,0.748000,1.000000,0.996000,5.8807
missense_variant,THTPA,MISSENSE,NM_024328.5:p.His176Arg/c.527A>G,cAc/cGc,MODERATE,COSM3931911(1),0.139177,0.245,rs34015250,0.48(T),0.027(B),1.05(L),-0.9881(T),,chr14,24026493,24026493,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His176Arg/c.527A>G|230|THTPA|protein_coding|CODING|NM_024328.5|1|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His176Arg/c.527A>G|230|THTPA|protein_coding|CODING|NM_001126339.3|2|1),intron_variant(MODIFIER|||n.466-1411A>G||THTPA||CODING|NR_046051.1|4|1),intron_variant(MODIFIER|||n.246-1411A>G||THTPA||CODING|NR_046052.1|2|1),intron_variant(MODIFIER|||n.362+941A>G||THTPA||CODING|NR_023314.4|1|1),intron_variant(MODIFIER|||c.277+250A>G|140|THTPA|protein_coding|CODING|NM_001256322.2|1|1),intron_variant(MODIFIER|||c.277+250A>G|140|THTPA|protein_coding|CODING|NM_001256323.2|2|1),intron_variant(MODIFIER|||c.282+245A>G|105|THTPA|protein_coding|CODING|NM_001256062.2|1|1),intron_variant(MODIFIER|||c.282+245A>G|105|THTPA|protein_coding|CODING|NM_001256321.2|2|1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,GM12878:H3K27ac,H1ESC:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me2,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,H1ESC:H3K4me1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.1626,0.2349,0.0875,0.07,0.04,0.09,,0.565491(N),0.990(P),"1.03,1.03(T,T)",0.0000(T),0.136,0.744357,5.04,2.39,0.459000,0.254000,0.664000,0.994000,0.488000,0.000000,4.0403
missense_variant,DHRS4,MISSENSE,NM_001282987.1:p.Arg138Trp/c.412C>T,Cgg/Tgg,MODERATE,COSM4148021(1),0.0355431,0.0298,rs76754832,0.15(T),,,-1.0252(T),,chr14,24435144,24435144,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg138Trp/c.412C>T|188|DHRS4|protein_coding|CODING|NM_001282987.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly127Gly/c.381C>T|244|DHRS4|protein_coding|CODING|NM_001282988.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly127Gly/c.381C>T|199|DHRS4|protein_coding|CODING|NM_001282990.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly161Gly/c.483C>T|278|DHRS4|protein_coding|CODING|NM_021004.3|5|1),intron_variant(MODIFIER|||c.307-1276C>T|158|DHRS4|protein_coding|CODING|NM_001282991.1|2|1),intron_variant(MODIFIER|||c.409-1276C>T|192|DHRS4|protein_coding|CODING|NM_001282989.1|3|1)","HUVEC:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0256,0.0432,0.0149,0.03,0.06,0.02,,,1.000(N),1.67(T),0.0099(T),.,1.952524,3.0,-6.0,-1.385000,-2.058000,-1.422000,0.911000,0.782000,0.080000,12.5072
missense_variant,DHRS4L2,MISSENSE,NM_198083.3:p.Gln2His/c.6G>C,caG/caC,MODERATE,COSM3765752(3),0.673922,0.8571,rs2273946,0.52(T),,0(N),-1.0072(T),,chr14,24458162,24458162,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln2His/c.6G>C|232|DHRS4L2|protein_coding|CODING|NM_198083.3|1|1),intron_variant(MODIFIER|||c.-175-1229G>C|131|DHRS4L2|protein_coding|CODING|NM_001193636.1|1|1),intron_variant(MODIFIER|||c.-175-1229G>C|90|DHRS4L2|protein_coding|CODING|NM_001193637.1|1|1),intron_variant(MODIFIER|||c.45-1229G>C|170|DHRS4L2|protein_coding|CODING|NM_001193635.1|3|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,HepG2:p300,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H3K4me1,HeLa-S3:E2F4,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:HNF4A,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:Tcf12",,,,0.5603,0.4928,0.338,0.52,0.86,0.34,,0.846448(N),0.997(P),"1.76,-1.62,1.92,2.54(T,D,T,T)",0.0000(T),0.208,-1.945070,2.83,-5.08,-3.348000,-1.254000,-1.089000,0.000000,0.000000,0.000000,2.5528
missense_variant,DHRS4L2,MISSENSE,NM_198083.3:p.Met19Leu/c.55A>T,Atg/Ttg,MODERATE,COSM3955939(1),0.188299,0.2897,rs2273947,0.19(T),0.003(B),,-1.0920(T),,chr14,24458211,24458211,A,T,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met19Leu/c.55A>T|232|DHRS4L2|protein_coding|CODING|NM_198083.3|1|1),intron_variant(MODIFIER|||c.-175-1180A>T|131|DHRS4L2|protein_coding|CODING|NM_001193636.1|1|1),intron_variant(MODIFIER|||c.-175-1180A>T|90|DHRS4L2|protein_coding|CODING|NM_001193637.1|1|1),intron_variant(MODIFIER|||c.45-1180A>T|170|DHRS4L2|protein_coding|CODING|NM_001193635.1|3|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,HepG2:p300,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H3K4me1,HeLa-S3:E2F4,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12",,,,0.2096,0.2061,0.1004,0.13,0.16,0.11,,0.450357(N),0.000(P),"1.89,-1.49,1.99,2.67,-1.52(T,T,T,T,D)",0.0000(T),0.275,1.615165,2.83,1.59,0.338000,0.280000,3.200000,0.049000,0.538000,1.000000,5.8455
missense_variant,DHRS4L2,MISSENSE,NM_198083.3:p.Ala49Thr/c.145G>A,Gcc/Acc,MODERATE,,0.0419329,0.0347,rs61732730,0.02(D),"0.837,0.537(P,P)",2.665(M),-0.1537(T),,chr14,24459407,24459407,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala21Thr/c.61G>A|170|DHRS4L2|protein_coding|CODING|NM_001193635.1|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala49Thr/c.145G>A|232|DHRS4L2|protein_coding|CODING|NM_198083.3|2|1),5_prime_UTR_variant(MODIFIER||159|c.-159G>A|131|DHRS4L2|protein_coding|CODING|NM_001193636.1|2|1),5_prime_UTR_variant(MODIFIER||159|c.-159G>A|90|DHRS4L2|protein_coding|CODING|NM_001193637.1|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.0432,0.0169,0.03,0.07,0.02,,0.000001(N),1.000(D),"-3.28,-0.44,-0.44,0.72,0.72(D,T,T,T,T)",0.3021(T),0.502,2.288146,3.36,1.37,0.205000,0.061000,5.609000,0.002000,0.948000,1.000000,5.5147
synonymous_variant,LRRC16B,SILENT,NM_138360.3:p.Leu705Leu/c.2115A>G,ctA/ctG,LOW,,0.963259,0.997,rs1951635,,,,,,chr14,24529890,24529890,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu705Leu/c.2115A>G|1372|LRRC16B|protein_coding|CODING|NM_138360.3|25|1),"H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9458,0.9784,0.8956,0.91,0.97,0.88,,,,,,,,,,,,,,,,
missense_variant,LRRC16B,MISSENSE,NM_138360.3:p.Leu1022Met/c.3064C>A,Ctg/Atg,MODERATE,,0.348642,0.0437,rs10146906,0.64(T),"0.001,0.001(B,B)",-0.06(N),-0.9248(T),,chr14,24533539,24533539,C,A,het,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu1022Met/c.3064C>A|1372|LRRC16B|protein_coding|CODING|NM_138360.3|32|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.271,0.4553,0.4632,0.46,0.49,0.45,,0.000075(N),1.000(P),"0.94,0.94(T,T)",0.0000(T),0.108,1.658049,5.28,5.28,-0.256000,0.852000,2.101000,0.980000,1.000000,1.000000,9.8541
synonymous_variant,CPNE6,SILENT,NM_001280558.1:p.Ile366Ile/c.1098T>C,atT/atC,LOW,,0.497604,0.4861,rs2070342,,,,,,chr14,24545366,24545366,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile366Ile/c.1098T>C|612|CPNE6|protein_coding|CODING|NM_001280558.1|12|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile311Ile/c.933T>C|557|CPNE6|protein_coding|CODING|NM_006032.3|11|1)","IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.5644,0.4337,0.3579,0.42,0.56,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CPNE6,SILENT,NM_001280558.1:p.Thr369Thr/c.1107C>T,acC/acT,LOW,COSM3952934(3),0.39377,0.5337,rs2070341,,,,,,chr14,24545375,24545375,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr369Thr/c.1107C>T|612|CPNE6|protein_coding|CODING|NM_001280558.1|12|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr314Thr/c.942C>T|557|CPNE6|protein_coding|CODING|NM_006032.3|11|1)","IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.3947,0.4625,0.6193,0.47,0.17,0.62,,,,,,,,,,,,,,,,
missense_variant,PCK2,MISSENSE,NM_004563.3:p.Gln121Pro/c.362A>C,cAa/cCa,MODERATE,,1,1,rs3021119,1(T),"0.0,0.0(B,B)",-3.895(N),-0.9597(T),,chr14,24567498,24567498,A,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln121Pro/c.362A>C|441|PCK2|protein_coding|CODING|NM_001018073.2|3|1),missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln121Pro/c.362A>C|640|PCK2|protein_coding|CODING|NM_004563.3|3|1),5_prime_UTR_variant(MODIFIER||41|c.-41A>C|506|PCK2|protein_coding|CODING|NM_001291556.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000000(N),0.000(P),"4.09,4.09(T,T)",0.0000(T),0.246,-0.059823,5.19,5.19,-0.358000,1.200000,5.787000,0.456000,0.975000,1.000000,13.06
missense_variant,DCAF11,MISSENSE,NM_001163484.1:p.Arg207His/c.620G>A,cGt/cAt,MODERATE,COSM4148029(1),0.397165,0.4355,rs3825584,0.21(T),"0.001,0.003,0.001,0.0(B,B,B,B)",-0.55(N),-0.9025(T),,chr14,24587639,24587639,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg207His/c.620G>A|546|DCAF11|protein_coding|CODING|NM_001163484.1|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg207His/c.620G>A|546|DCAF11|protein_coding|CODING|NM_025230.4|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg181His/c.542G>A|520|DCAF11|protein_coding|CODING|NM_181357.2|7|1),non_coding_exon_variant(MODIFIER|||n.1262G>A||DCAF11||CODING|NR_028099.1|6|1),non_coding_exon_variant(MODIFIER|||n.877G>A||DCAF11||CODING|NR_028100.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4918,0.4625,0.3032,0.29,0.32,0.27,,0.069715(N),0.997(P),"1.01,1.01(T,T)",0.0000(T),0.303,1.708956,5.4,-5.29,-0.290000,-1.098000,0.021000,0.986000,0.737000,0.716000,13.2261
synonymous_variant,DCAF11,SILENT,NM_001163484.1:p.Asp216Asp/c.648C>T,gaC/gaT,LOW,COSM4148030(1),0.332268,0.3889,rs17101367,,,,,,chr14,24587667,24587667,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp216Asp/c.648C>T|546|DCAF11|protein_coding|CODING|NM_001163484.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp216Asp/c.648C>T|546|DCAF11|protein_coding|CODING|NM_025230.4|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp190Asp/c.570C>T|520|DCAF11|protein_coding|CODING|NM_181357.2|7|1),non_coding_exon_variant(MODIFIER|||n.1290C>T||DCAF11||CODING|NR_028099.1|6|1),non_coding_exon_variant(MODIFIER|||n.905C>T||DCAF11||CODING|NR_028100.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3681,0.4107,0.2167,0.21,0.28,0.18,,,,,,,,,,,,,,,,
missense_variant,PSME2,MISSENSE,NM_002818.2:p.His89Pro/c.266A>C,cAt/cCt,MODERATE,,0.996006,1,rs7146672,1(T),0.0(B),-2.595(N),-0.9893(T),,chr14,24614361,24614361,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His89Pro/c.266A>C|239|PSME2|protein_coding|CODING|NM_002818.2|6|1),upstream_gene_variant(MODIFIER||1587|||MIR7703||NON_CODING|NR_106990.1||1)","GM12878:H3K4me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.9969,0.9914,0.9891,0.99,1.00,0.99,,,0.999(P),2.04(T),0.0000(T),0.1,-0.096265,5.29,4.39,-0.121000,1.233000,4.275000,0.991000,1.000000,1.000000,6.0471
synonymous_variant,PSME2,SILENT,NM_002818.2:p.Arg21Arg/c.63A>G,agA/agG,LOW,,0.567891,0.6369,rs4575,,,,,,chr14,24615435,24615435,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg21Arg/c.63A>G|239|PSME2|protein_coding|CODING|NM_002818.2|2|1),upstream_gene_variant(MODIFIER||1224||1072|RNF31|protein_coding|CODING|NM_017999.4||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HUVEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4642,0.5447,0.3231,0.42,0.70,0.28,,,,,,,,,,,,,,,,
synonymous_variant,RNF31,SILENT,NM_017999.4:p.Tyr82Tyr/c.246C>T,taC/taT,LOW,,0.34345,0.5546,rs2273913,,,,,,chr14,24617238,24617238,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr82Tyr/c.246C>T|1072|RNF31|protein_coding|CODING|NM_017999.4|2|1),upstream_gene_variant(MODIFIER||1383||239|PSME2|protein_coding|CODING|NM_002818.2||1)","CD4:H3K9me1,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.2965,0.2003,0.2306,0.22,0.32,0.18,,,,,,,,,,,,,,,,
synonymous_variant,IRF9,SILENT,NM_006084.4:p.Cys29Cys/c.87C>T,tgC/tgT,LOW,,0.00159744,0,rs145197850,,,,,,chr14,24631440,24631440,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys29Cys/c.87C>T|393|IRF9|protein_coding|CODING|NM_006084.4|2|1),downstream_gene_variant(MODIFIER||1570||1072|RNF31|protein_coding|CODING|NM_017999.4||1)","NHEK:H3K9ac,HepG2:H3K4me2,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K36me3,HSMM:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me2,IMR90:DNase1,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,CD4:H2AK9ac,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,GM12878:H3K4me2,HMEC:H3K4me3",,,,0,0.0014,0.007,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,REC8,SILENT,NM_001048205.1:p.His94His/c.282C>T,caC/caT,LOW,,0.1248,0.3175,rs11547058,,,,,,chr14,24642348,24642348,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His94His/c.282C>T|546|REC8|protein_coding|CODING|NM_001048205.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His94His/c.282C>T|546|REC8|protein_coding|CODING|NM_005132.2|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.047,0.0749,0.1402,0.09,0.06,0.11,,,,,,,,,,,,,,,,
missense_variant,IPO4,MISSENSE,NM_024658.3:p.Pro580Ala/c.1738C>G,Cct/Gct,MODERATE,COSM3753915(2),0.315495,0.4196,rs11550452,0.16(T),"0.973,0.867(D,P)",2.02(M),-0.9691(T),,chr14,24653523,24653523,G,C,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro580Ala/c.1738C>G|1081|IPO4|protein_coding|CODING|NM_024658.3|17|1),non_coding_exon_variant(MODIFIER|||n.1869C>G||IPO4||CODING|NR_051979.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4581,0.2493,0.2922,0.30,0.24,0.33,,0.000000(D),0.000(P),0.75(T),0.0000(T),0.609,4.495905,5.4,5.4,0.655000,2.814000,7.795000,0.999000,1.000000,1.000000,18.116
missense_variant,IPO4,MISSENSE,NM_024658.3:p.Ala513Val/c.1538C>T,gCc/gTc,MODERATE,COSM3753916(1),0.317891,0.4206,rs7146310,0.08(T),0.016(B),0.49(N),-0.9361(T),,chr14,24653954,24653954,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala513Val/c.1538C>T|1081|IPO4|protein_coding|CODING|NM_024658.3|16|1),non_coding_exon_variant(MODIFIER|||n.1669C>T||IPO4||CODING|NR_051979.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4611,0.2363,0.2654,0.26,0.22,0.29,,0.178468(N),0.999(P),3.58(T),0.0000(T),0.212,2.506634,5.28,3.32,0.558000,1.412000,1.072000,0.819000,1.000000,1.000000,7.6189
synonymous_variant,IPO4,SILENT,NM_024658.3:p.Val436Val/c.1308A>G,gtA/gtG,LOW,COSM3753917(1),0.461661,0.7897,rs2025258,,,,,,chr14,24654489,24654489,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val436Val/c.1308A>G|1081|IPO4|protein_coding|CODING|NM_024658.3|14|1),non_coding_exon_variant(MODIFIER|||n.1439A>G||IPO4||CODING|NR_051979.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4816,0.2939,0.339,0.35,0.37,0.34,,,,,,,,,,,,,,,,
missense_variant,TM9SF1,MISSENSE,NM_006405.6:p.Arg215His/c.644G>A,cGt/cAt,MODERATE,COSM3749273(1),0.0547125,0.003,rs10583,0.21(T),"0.002,0.001,0.0(B,B,B)",-0.895(N),-1.0287(T),,chr14,24662177,24662177,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg215His/c.644G>A|489|TM9SF1|protein_coding|CODING|NM_001014842.2|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg128His/c.383G>A|519|TM9SF1|protein_coding|CODING|NM_001289006.1|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg215His/c.644G>A|606|TM9SF1|protein_coding|CODING|NM_006405.6|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0481,0.1066,0.1421,0.11,0.03,0.15,,0.058512(N),0.998(P),"0.96,0.96,0.96,0.96,0.96,0.96,0.96,0.96,0.96,0.96(T,T,T,T,T,T,T,T,T,T)",0.0002(T),0.294,0.220125,5.1,-3.78,-0.140000,-1.011000,0.594000,0.719000,0.008000,0.175000,11.9113
missense_variant,CHMP4A,MISSENSE,NM_014169.3:p.Gly196Arg/c.586G>A,Gga/Aga,MODERATE,COSM3999234(1),0.351238,0.2361,rs2295322,0.01(D),"0.675,0.949(P,D)",3.735(H),-0.9113(T),,chr14,24679877,24679877,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly196Arg/c.586G>A|265|CHMP4A|protein_coding|CODING|NM_014169.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2607,0.6196,0.504,0.44,0.28,0.52,,0.010999(N),0.000(P),"-0.68,-0.68,-0.68,-0.68(T,T,T,T)",0.0000(T),0.368,4.367327,5.2,4.3,0.561000,1.392000,5.529000,0.997000,1.000000,1.000000,10.6946
synonymous_variant,TGM1,SILENT,NM_000359.2:p.Gly382Gly/c.1146C>A,ggC/ggA,LOW,,0.155351,0.0853,rs1126432,,,,,,chr14,24728294,24728294,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly382Gly/c.1146C>A|817|TGM1|protein_coding|CODING|NM_000359.2|7|1),"HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.136,0.1657,0.2028,0.19,0.18,0.20,,,,,,,,,,,,,,,,
missense_variant,TGM1,MISSENSE,NM_000359.2:p.Ser42Tyr/c.125C>A,tCc/tAc,MODERATE,,0.00219649,0,,0.02(D),0.601(P),0.805(L),0.0169(D),,chr14,24731434,24731434,G,T,het,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser42Tyr/c.125C>A|817|TGM1|protein_coding|CODING|NM_000359.2|2|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000013298.23,,0,0.0029,0.0089,0.00,0.00,0.01,,0.025798(N),1.000(A),-1.55(D),0.3505(T),0.828,3.020408,4.67,4.67,0.491000,2.432000,2.387000,0.978000,0.998000,1.000000,12.9366
synonymous_variant,NOP9,SILENT,NM_174913.2:p.His298His/c.894T>C,caT/caC,LOW,COSM4148039(1),0.910543,0.8552,rs4247001,,,,,,chr14,24771256,24771256,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His298His/c.894T>C|535|NOP9|protein_coding|CODING|NM_001286367.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His298His/c.894T>C|636|NOP9|protein_coding|CODING|NM_174913.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.953,0.9294,0.9742,0.94,0.90,0.96,,,,,,,,,,,,,,,,
missense_variant,ADCY4,MISSENSE,NM_139247.3:p.Ala50Val/c.149C>T,gCc/gTc,MODERATE,,0.00838658,0,rs77202343,0.54(T),"0.945,0.771(D,P)",1.59(L),-0.4670(T),,chr14,24803710,24803710,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala50Val/c.149C>T|1077|ADCY4|protein_coding|CODING|NM_139247.3|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala50Val/c.149C>T|1077|ADCY4|protein_coding|CODING|NM_001198592.1|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala50Val/c.149C>T|1077|ADCY4|protein_coding|CODING|NM_001198568.1|1|1),downstream_gene_variant(MODIFIER||1517||518|RIPK3|protein_coding|CODING|NM_006871.3||1)","HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0092,0.0101,0.0229,0.01,0.01,0.02,,0.000314(D),1.000(D),"-1.01,-1.01,-1.01(T,T,T)",0.2752(T),0.546,5.421899,5.45,5.45,0.655000,2.838000,6.145000,0.963000,1.000000,1.000000,16.8265
missense_variant,NFATC4,MISSENSE,NM_001136022.2:p.Gly223Ala/c.668G>C,gGc/gCc,MODERATE,COSM4148054(2),0.280351,0.1448,rs2229309,1(T),"0.001,0.001,0.001,0.001,0.588,0.001,0.001,0.001,0.001,0.001,0.001,0.002,0.001,0.0(B,B,B,B,P,B,B,B,B,B,B,B,B,B)",0.69(N),-1.0539(T),,chr14,24839083,24839083,G,C,het,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly223Ala/c.668G>C|964|NFATC4|protein_coding|CODING|NM_001136022.2|3|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly160Ala/c.479G>C|794|NFATC4|protein_coding|CODING|NM_001198965.1|2|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly90Ala/c.269G>C|832|NFATC4|protein_coding|CODING|NM_001198966.2|2|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly223Ala/c.668G>C|857|NFATC4|protein_coding|CODING|NM_001198967.2|3|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly148Ala/c.443G>C|889|NFATC4|protein_coding|CODING|NM_001288802.1|2|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly160Ala/c.479G>C|902|NFATC4|protein_coding|CODING|NM_004554.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.316,0.379,0.5716,0.45,0.17,0.59,,0.684491(N),0.000(P),"2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49,2.49(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.236,0.860535,3.8,1.81,0.467000,0.220000,2.027000,0.830000,0.995000,0.995000,11.0773
synonymous_variant,NFATC4,SILENT,NM_001136022.2:p.Asp250Asp/c.750C>T,gaC/gaT,LOW,,0.40016,0.4692,rs2228233,,,,,,chr14,24839165,24839165,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp250Asp/c.750C>T|964|NFATC4|protein_coding|CODING|NM_001136022.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|794|NFATC4|protein_coding|CODING|NM_001198965.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp117Asp/c.351C>T|832|NFATC4|protein_coding|CODING|NM_001198966.2|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp250Asp/c.750C>T|857|NFATC4|protein_coding|CODING|NM_001198967.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp175Asp/c.525C>T|889|NFATC4|protein_coding|CODING|NM_001288802.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|902|NFATC4|protein_coding|CODING|NM_004554.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4479,0.4323,0.2644,0.30,0.36,0.27,,,,,,,,,,,,,,,,
synonymous_variant,NFATC4,SILENT,NM_001136022.2:p.Thr670Thr/c.2010T>C,acT/acC,LOW,COSM4148059(1),0.284545,0.1528,rs2295298,,,,,,chr14,24843620,24843620,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr670Thr/c.2010T>C|964|NFATC4|protein_coding|CODING|NM_001136022.2|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr607Thr/c.1821T>C|794|NFATC4|protein_coding|CODING|NM_001198965.1|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr537Thr/c.1611T>C|832|NFATC4|protein_coding|CODING|NM_001198966.2|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr670Thr/c.2010T>C|857|NFATC4|protein_coding|CODING|NM_001198967.2|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr595Thr/c.1785T>C|889|NFATC4|protein_coding|CODING|NM_001288802.1|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr607Thr/c.1821T>C|902|NFATC4|protein_coding|CODING|NM_004554.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.319,0.3876,0.5885,0.45,0.16,0.60,,,,,,,,,,,,,,,,
missense_variant,NFATC4,MISSENSE,NM_001136022.2:p.Ser863Pro/c.2587T>C,Tcc/Ccc,MODERATE,,0.358027,0.1538,rs7149586,0.86(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B,B)",0.345(N),-0.9331(T),,chr14,24845841,24845841,T,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser730Pro/c.2188T>C|832|NFATC4|protein_coding|CODING|NM_001198966.2|9|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser800Pro/c.2398T>C|902|NFATC4|protein_coding|CODING|NM_004554.4|9|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser863Pro/c.2587T>C|964|NFATC4|protein_coding|CODING|NM_001136022.2|10|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser788Pro/c.2362T>C|889|NFATC4|protein_coding|CODING|NM_001288802.1|9|1),intron_variant(MODIFIER|||c.2317+81T>C|794|NFATC4|protein_coding|CODING|NM_001198965.1|9|1),intron_variant(MODIFIER|||c.2506+81T>C|857|NFATC4|protein_coding|CODING|NM_001198967.2|10|1)","HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3783,0.4539,0.6571,0.54,0.29,0.67,,0.030841(N),0.000(P),"3.11,3.09,3.13,3.12,3.08,3.1,3.14,2.79,2.79,2.83,2.82,2.77,1.45,1.44,0.86,0.78(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.15,1.549706,5.53,2.27,-0.215000,0.294000,-0.270000,0.872000,0.993000,0.001000,5.3395
missense_variant,KHNYN,MISSENSE,NM_001290256.1:p.Gly17Arg/c.49G>C,Ggc/Cgc,MODERATE,,0.134585,0.2312,rs2273633,,,,,,chr14,24898556,24898556,G,C,het,"missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly17Arg/c.49G>C|719|KHNYN|protein_coding|CODING|NM_001290256.1|1|1),5_prime_UTR_variant(MODIFIER||296|c.-296C>G|205|CBLN3|protein_coding|CODING|NM_001039771.2|1|1),upstream_gene_variant(MODIFIER||585||678|KHNYN|protein_coding|CODING|NM_001290257.1||1),upstream_gene_variant(MODIFIER||585||678|KHNYN|protein_coding|CODING|NM_015299.2||1)","CD4:H4K16ac,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,IMR90:H4K5ac,H1ESC:H3K27me3,CD4:H4K8ac,CD4:H3K27ac,CD4:H2AK9ac,GM06990:H3K4me3,IMR90:H2AK5ac,IMR90:H3K4ac,HeLa-S3:PolII,IMR90:H3K27ac,CD4:H3K36ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,GM12878:H3K9ac,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,CD4:H2BK12ac,IMR90:H4K8ac",,,,0.091,0.0533,0.0368,,,,,,,,,,,,,,,,,,,
missense_variant,KHNYN,MISSENSE,NM_001290256.1:p.Trp311Leu/c.932G>T,tGg/tTg,MODERATE,,0.959465,0.9692,rs7151995,1(T),0.0(B),-0.695(N),-0.9862(T),,chr14,24901276,24901276,G,T,het,"missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp311Leu/c.932G>T|719|KHNYN|protein_coding|CODING|NM_001290256.1|3|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp270Leu/c.809G>T|678|KHNYN|protein_coding|CODING|NM_001290257.1|3|1),missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp270Leu/c.809G>T|678|KHNYN|protein_coding|CODING|NM_015299.2|3|1)","NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,IMR90:H3K9ac,GM12878:H3K4me3,CD4:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,HepG2:PolII,HeLa-S3:CTCF,GM12878:CTCF,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,HMEC:CTCF,HeLa-S3:PolII,NH-A:CTCF,CD4:H3K4me1,GM12878:PolII,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,CD4:PolII,HepG2:DNase1,GM12878:DNase1,GM06990:H3K36me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.9479,0.9798,0.9712,0.96,0.94,0.97,,0.000000(N),1.000(P),"2.1,2.1,2.1(T,T,T)",0.0000(T),0.114,-1.093206,4.96,-0.232,-0.525000,-0.289000,0.092000,0.328000,0.271000,0.000000,6.6504
missense_variant,SDR39U1,MISSENSE,NM_020195.2:p.Gln270Arg/c.809A>G,cAg/cGg,MODERATE,COSM4148067(1),0.765176,0.8393,rs1043831,0.35(T),"0.003,0.0,0.001,0.0,0.001(B,B,B,B,B)",-0.42(N),-0.9962(T),,chr14,24909362,24909362,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln188Arg/c.563A>G|211|SDR39U1|protein_coding|CODING|NM_001290292.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln162Arg/c.485A>G|185|SDR39U1|protein_coding|CODING|NM_001290293.1|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln270Arg/c.809A>G|293|SDR39U1|protein_coding|CODING|NM_020195.2|6|1),3_prime_UTR_variant(MODIFIER||2871|c.*2871T>C|719|KHNYN|protein_coding|CODING|NM_001290256.1|8|1),3_prime_UTR_variant(MODIFIER||2871|c.*2871T>C|678|KHNYN|protein_coding|CODING|NM_001290257.1|8|1),3_prime_UTR_variant(MODIFIER||2871|c.*2871T>C|678|KHNYN|protein_coding|CODING|NM_015299.2|8|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8875,0.8516,0.9046,0.80,0.55,0.91,,0.000380(N),0.000(P),"0.89,0.89,0.89,0.89,0.89,0.89,0.89(T,T,T,T,T,T,T)",0.0000(T),0.221,0.986019,5.27,5.27,-0.213000,1.370000,3.581000,0.421000,0.979000,0.994000,8.6187
missense_variant,SDR39U1,MISSENSE,NM_020195.2:p.Leu232Phe/c.696G>C,ttG/ttC,MODERATE,COSM4148070(1),0.765176,0.8393,rs3211056,0.28(T),"0.028,0.037,0.007,0.191,0.003(B,B,B,B,B)",1.365(L),-1.0423(T),,chr14,24909475,24909475,C,G,het,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu150Phe/c.450G>C|211|SDR39U1|protein_coding|CODING|NM_001290292.1|5|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu124Phe/c.372G>C|185|SDR39U1|protein_coding|CODING|NM_001290293.1|4|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu232Phe/c.696G>C|293|SDR39U1|protein_coding|CODING|NM_020195.2|6|1),3_prime_UTR_variant(MODIFIER||2984|c.*2984C>G|719|KHNYN|protein_coding|CODING|NM_001290256.1|8|1),3_prime_UTR_variant(MODIFIER||2984|c.*2984C>G|678|KHNYN|protein_coding|CODING|NM_001290257.1|8|1),3_prime_UTR_variant(MODIFIER||2984|c.*2984C>G|678|KHNYN|protein_coding|CODING|NM_015299.2|8|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8875,0.8516,0.9046,0.80,0.56,0.91,,0.000002(D),0.000(P),"1.61,1.34,1.29,1.3,1.36,1.39,1.31,0.93,0.9,0.4(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.457,0.623966,4.71,3.83,0.563000,1.202000,0.694000,0.756000,0.993000,0.998000,7.1111
missense_variant,SDR39U1,MISSENSE,NM_020195.2:p.Ile79Leu/c.235A>C,Atc/Ctc,MODERATE,COSM4148073(1),0.765176,0.8383,rs11625819,1(T),"0.0,0.0(B,B)",-0.625(N),-0.9357(T),,chr14,24910973,24910973,T,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile79Leu/c.235A>C|293|SDR39U1|protein_coding|CODING|NM_020195.2|4|1),upstream_gene_variant(MODIFIER||1186|||LOC101927045||NON_CODING|NR_110032.1||1),downstream_gene_variant(MODIFIER||426||719|KHNYN|protein_coding|CODING|NM_001290256.1||1),downstream_gene_variant(MODIFIER||426||678|KHNYN|protein_coding|CODING|NM_001290257.1||1),downstream_gene_variant(MODIFIER||426||678|KHNYN|protein_coding|CODING|NM_015299.2||1),intron_variant(MODIFIER|||c.4+331A>C|185|SDR39U1|protein_coding|CODING|NM_001290293.1|2|1),intron_variant(MODIFIER|||c.82+411A>C|211|SDR39U1|protein_coding|CODING|NM_001290292.1|3|1)","K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HeLa-S3:H3K4me2,HSMM:H3K36me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.8885,0.8516,0.9046,0.79,0.53,0.90,,0.002123(N),0.000(P),-3.32(D),0.0000(T),0.045,-0.058147,5.46,3.57,-0.121000,0.335000,0.620000,0.664000,0.736000,0.667000,8.8086
synonymous_variant,SDR39U1,SILENT,NM_020195.2:p.Val78Val/c.234A>T,gtA/gtT,LOW,COSM4148074(1),0.765176,0.8383,rs11625820,,,,,,chr14,24910974,24910974,T,A,het,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val78Val/c.234A>T|293|SDR39U1|protein_coding|CODING|NM_020195.2|4|1),upstream_gene_variant(MODIFIER||1185|||LOC101927045||NON_CODING|NR_110032.1||1),downstream_gene_variant(MODIFIER||427||719|KHNYN|protein_coding|CODING|NM_001290256.1||1),downstream_gene_variant(MODIFIER||427||678|KHNYN|protein_coding|CODING|NM_001290257.1||1),downstream_gene_variant(MODIFIER||427||678|KHNYN|protein_coding|CODING|NM_015299.2||1),intron_variant(MODIFIER|||c.4+330A>T|185|SDR39U1|protein_coding|CODING|NM_001290293.1|2|1),intron_variant(MODIFIER|||c.82+410A>T|211|SDR39U1|protein_coding|CODING|NM_001290292.1|3|1)","K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HeLa-S3:H3K4me2,HSMM:H3K36me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.8885,0.8516,0.9046,0.78,0.52,0.90,,,,,,,,,,,,,,,,
synonymous_variant,CMA1,SILENT,NM_001836.3:p.Ser133Ser/c.399C>A,tcC/tcA,LOW,,0.927117,1,rs5249,,,,,,chr14,24975435,24975435,G,T,hom,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser133Ser/c.399C>A|247|CMA1|protein_coding|CODING|NM_001836.3|4|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9741,1,0.93,0.80,1.00,,,,,,,,,,,,,,,,
missense_variant,GZMB,MISSENSE,NM_004131.4:p.Arg55Gln/c.164G>A,cGa/cAa,MODERATE,COSM3753926(2),0.680711,0.7133,rs8192917,0.32(T),0.027(B),-0.02(N),-0.9380(T),,chr14,25102160,25102160,C,T,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg55Gln/c.164G>A|247|GZMB|protein_coding|CODING|NM_004131.4|2|1),HepG2:H3K27me3,Vitiligo,,,0.6646,0.781,0.7525,0.71,0.60,0.76,,0.588120(N),1.000(P),"0.29,-3.12,-3.12,1.57,-1.49(T,D,D,T,T)",0.0000(T),0.137,2.780393,5.04,-1.15,-0.150000,-0.100000,-1.293000,0.104000,0.000000,0.000000,8.5337
synonymous_variant,PRKD1,SILENT,NM_002742.2:p.Ile734Ile/c.2202T>C,atT/atC,LOW,COSM3753928(1),0.511781,0.2113,rs2230505,,,,,,chr14,30066929,30066929,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile734Ile/c.2202T>C|912|PRKD1|protein_coding|CODING|NM_002742.2|16|1),intron_variant(MODIFIER|||n.30-68162T>C||MIR548AI||NON_CODING|NR_039672.1|1|1)","HSMM:H3K36me3,IMR90:H3K36me3",,,,0.5337,0.4568,0.3837,0.51,0.76,0.38,,,,,,,,,,,,,,,,
missense_variant,SCFD1,MISSENSE,NM_016106.3:p.Lys63Arg/c.188A>G,aAg/aGg,MODERATE,COSM432987(2),0.577676,0.7103,rs229150,0.14(T),0.155(B),1.545(L),-1.0125(T),,chr14,31099738,31099738,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys63Arg/c.188A>G|642|SCFD1|protein_coding|CODING|NM_016106.3|3|1),5_prime_UTR_variant(MODIFIER||14|c.-14A>G|575|SCFD1|protein_coding|CODING|NM_182835.2|2|1),5_prime_UTR_variant(MODIFIER||12816|c.-280A>G|457|SCFD1|protein_coding|CODING|NM_001283031.1|3|1),5_prime_UTR_variant(MODIFIER||12816|c.-66A>G|457|SCFD1|protein_coding|CODING|NM_001283033.1|3|1),intron_variant(MODIFIER|||c.-55-3415A>G|550|SCFD1|protein_coding|CODING|NM_001257376.1|1|1),intron_variant(MODIFIER|||c.44+2253A>G|583|SCFD1|protein_coding|CODING|NM_001283032.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4254,0.5029,0.3608,0.47,0.71,0.34,,0.000000(D),0.000(P),"1.55,1.55(T,T)",0.0000(T),0.424,2.853519,5.6,5.6,0.528000,2.129000,8.719000,0.998000,1.000000,1.000000,15.7861
missense_variant,COCH,MISSENSE,NM_001135058.1:p.Thr352Ser/c.1055C>G,aCt/aGt,MODERATE,COSM3736100(2),0.411342,0.3611,rs1045644,0.62(T),,-1.5(N),-0.9322(T),,chr14,31355096,31355096,C,G,het,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr352Ser/c.1055C>G|550|COCH|protein_coding|CODING|NM_001135058.1|10|1),missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr352Ser/c.1055C>G|550|COCH|protein_coding|CODING|NM_004086.2|11|1),non_coding_exon_variant(MODIFIER|||n.975G>C||LOC100506071||NON_CODING|NR_038356.1|3|1)","HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3446,0.6311,0.6342,0.51,0.28,0.63,,,1.000(P),,0.0000(T),.,1.953829,6.02,4.18,0.650000,0.846000,1.416000,0.988000,0.454000,0.002000,16.9096
synonymous_variant,STRN3,SILENT,NM_001083893.1:p.Ala98Ala/c.294A>G,gcA/gcG,LOW,COSM3753932(1),0.171526,0.003,rs12886419,,,,,,chr14,31425437,31425437,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala98Ala/c.294A>G|797|STRN3|protein_coding|CODING|NM_001083893.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala98Ala/c.294A>G|713|STRN3|protein_coding|CODING|NM_014574.3|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.135,0.17,0.2704,0.26,0.25,0.26,,,,,,,,,,,,,,,,
missense_variant,STRN3,MISSENSE,NM_001083893.1:p.Ala16Thr/c.46G>A,Gcc/Acc,MODERATE,COSM3749274(2),0.140375,0.1935,rs2281563,0.45(T),"0.017,0.007(B,B)",0.55(N),-1.0860(T),,chr14,31495346,31495346,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala16Thr/c.46G>A|797|STRN3|protein_coding|CODING|NM_001083893.1|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala16Thr/c.46G>A|713|STRN3|protein_coding|CODING|NM_014574.3|1|1),upstream_gene_variant(MODIFIER||503||144|AP4S1|protein_coding|CODING|NM_001254728.1||1),intron_variant(MODIFIER|||c.-72+842C>T|144|AP4S1|protein_coding|CODING|NM_001254729.1|1|1),intron_variant(MODIFIER|||c.-72+353C>T|144|AP4S1|protein_coding|CODING|NM_001128126.2|1|1),intron_variant(MODIFIER|||c.-72+353C>T|135|AP4S1|protein_coding|CODING|NM_001254726.1|1|1),intron_variant(MODIFIER|||c.-72+353C>T|149|AP4S1|protein_coding|CODING|NM_001254727.1|1|1),intron_variant(MODIFIER|||c.-72+353C>T|159|AP4S1|protein_coding|CODING|NM_007077.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3",,,,0.2454,0.1037,0.0885,,,,,0.947564(N),0.964(P),"-1.91,-1.91(D,D)",0.0009(T),0.152,3.242844,4.61,2.71,-0.324000,0.507000,3.945000,0.951000,0.973000,1.000000,10.7692
synonymous_variant,HECTD1,SILENT,NM_015382.3:p.Glu2107Glu/c.6321G>A,gaG/gaA,LOW,COSM3753933(1),0.292133,0.2897,rs17097735,,,,-0.9050(T),,chr14,31578762,31578762,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2107Glu/c.6321G>A|2610|HECTD1|protein_coding|CODING|NM_015382.3|36|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2945,0.1585,0.1064,0.22,0.41,0.13,,,0.000(P),,0.0000(T),.,0.992889,5.56,3.24,-0.550000,0.103000,1.082000,0.963000,1.000000,1.000000,8.8967
missense_variant,HECTD1,MISSENSE,NM_015382.3:p.Leu2027Pro/c.6080T>C,cTt/cCt,MODERATE,,0.999601,0.998,rs1315794,,,0.93(L),-1.0095(T),,chr14,31582380,31582380,A,G,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu2027Pro/c.6080T>C|2610|HECTD1|protein_coding|CODING|NM_015382.3|34|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,0.000(P),,0.0000(T),.,1.328069,5.66,2.4,-0.128000,0.287000,3.128000,0.970000,1.000000,1.000000,8.7217
synonymous_variant,HECTD1,SILENT,NM_015382.3:p.Leu2007Leu/c.6021A>G,ctA/ctG,LOW,COSM1562663(3),0.533746,0.376,rs2273483,,,,-1.0136(T),,chr14,31582526,31582526,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu2007Leu/c.6021A>G|2610|HECTD1|protein_coding|CODING|NM_015382.3|33|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5368,0.5,0.4215,0.49,0.67,0.41,,,0.000(P),,0.0000(T),.,-1.060382,5.94,3.05,-0.755000,0.424000,0.790000,0.267000,1.000000,1.000000,4.2472
synonymous_variant,HECTD1,SILENT,NM_015382.3:p.Ser1443Ser/c.4329T>C,tcT/tcC,LOW,,0.123003,0.1806,rs17097743,,,,,,chr14,31598248,31598248,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1443Ser/c.4329T>C|2610|HECTD1|protein_coding|CODING|NM_015382.3|25|1),"H1ESC:H3K36me3,CD4:H2AK5ac,CD4:H4K91ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,GM12878:SP1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:PU1,CD4:H2BK12ac",,,,0.2444,0.1066,0.1064,0.10,0.04,0.13,,,,,,,,,,,,,,,,
synonymous_variant,HECTD1,SILENT,NM_015382.3:p.Gln656Gln/c.1968A>G,caA/caG,LOW,COSM3753934(1),0.293131,0.2907,rs11620816,,,,,,chr14,31619392,31619392,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln656Gln/c.1968A>G|2610|HECTD1|protein_coding|CODING|NM_015382.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2955,0.1585,0.1074,0.22,0.43,0.13,,,,,,,,,,,,,,,,
synonymous_variant,HECTD1,SILENT,NM_015382.3:p.Ala120Ala/c.360C>T,gcC/gcT,LOW,COSM3753935(2),0.557907,0.4405,rs2274201,,,,,,chr14,31647241,31647241,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala120Ala/c.360C>T|2610|HECTD1|protein_coding|CODING|NM_015382.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5286,0.6081,0.4175,0.48,0.66,0.39,,,,,,,,,,,,,,,,
missense_variant,HEATR5A,MISSENSE,NM_015473.3:p.Val886Met/c.2656G>A,Gtg/Atg,MODERATE,,0.805112,0.7897,rs3736918,,,2.56(M),-1.0761(T),,chr14,31819047,31819047,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val886Met/c.2656G>A|2046|HEATR5A|protein_coding|CODING|NM_015473.3|18|1),"HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9039,0.7522,0.9513,0.86,0.70,0.93,,,0.000(P),,0.0000(T),.,4.793262,5.48,5.48,0.655000,2.587000,7.384000,0.971000,1.000000,1.000000,19.3588
synonymous_variant,HEATR5A,SILENT,NM_015473.3:p.Leu808Leu/c.2422T>C,Ttg/Ctg,LOW,,0.805112,0.7897,rs7158257,0.01(D),,,-1.0322(T),,chr14,31819913,31819913,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu808Leu/c.2422T>C|2046|HEATR5A|protein_coding|CODING|NM_015473.3|17|1),"HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9039,0.7522,0.9513,0.86,0.69,0.93,,,0.000(P),-0.21(T),0.0000(T),.,0.612778,5.61,0.709,0.533000,0.097000,1.984000,0.813000,0.549000,1.000000,8.6916
missense_variant,HEATR5A,MISSENSE,NM_015473.3:p.Ala259Thr/c.775G>A,Gcc/Acc,MODERATE,,0.310903,0.3353,rs386607948,0.58(T),0.002(B),0.075(N),-0.9162(T),,chr14,31858209,31858209,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala259Thr/c.775G>A|2046|HEATR5A|protein_coding|CODING|NM_015473.3|7|1),splice_region_variant(LOW|||c.775G>A|2046|HEATR5A|protein_coding|CODING|NM_015473.3|7|1)","K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3",,,,0.409,0.3429,0.4205,,,,,,0.000(P),"3.13,3.13,3.13,3.13(T,T,T,T)",0.0000(T),0.216,2.501006,5.6,5.6,0.491000,2.629000,2.388000,0.987000,1.000000,0.997000,11.0175
missense_variant,HEATR5A,MISSENSE,NM_015473.3:p.Pro173Ala/c.517C>G,Cct/Gct,MODERATE,,0.828674,0.879,rs7141532,0.16(T),0.229(B),1.7(L),-1.0038(T),,chr14,31864485,31864485,G,C,hom,missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro173Ala/c.517C>G|2046|HEATR5A|protein_coding|CODING|NM_015473.3|5|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9356,0.8156,0.997,,,,,0.000006(D),0.000(P),"-0.3,-0.3,-0.3,-0.3(T,T,T,T)",0.0000(T),0.339,1.255254,5.83,2.97,0.650000,0.367000,0.986000,0.947000,0.991000,0.577000,8.8064
synonymous_variant,AKAP6,SILENT,NM_004274.4:p.Thr385Thr/c.1155G>A,acG/acA,LOW,,0.728634,0.6171,rs7150894,,,,,,chr14,33015014,33015014,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr385Thr/c.1155G>A|2319|AKAP6|protein_coding|CODING|NM_004274.4|4|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.544,0.781,0.6561,0.75,0.92,0.66,,,,,,,,,,,,,,,,
synonymous_variant,AKAP6,SILENT,NM_004274.4:p.Glu803Glu/c.2409A>G,gaA/gaG,LOW,,0.866414,0.997,rs1950703,,,,,,chr14,33046388,33046388,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu803Glu/c.2409A>G|2319|AKAP6|protein_coding|CODING|NM_004274.4|5|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.8804,0.8617,0.7932,0.81,0.81,0.81,,,,,,,,,,,,,,,,
synonymous_variant,AKAP6,SILENT,NM_004274.4:p.Gly1908Gly/c.5724A>C,ggA/ggC,LOW,COSM3999252(1),0.711262,0.6696,rs2239647,,,,,,chr14,33292743,33292743,A,C,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly1908Gly/c.5724A>C|2319|AKAP6|protein_coding|CODING|NM_004274.4|13|1),,,,,0.68,0.683,0.5427,0.65,0.86,0.54,,,,,,,,,,,,,,,,
missense_variant,AKAP6,MISSENSE,NM_004274.4:p.Asn2035Asp/c.6103A>G,Aac/Gac,MODERATE,,0.710264,0.6716,rs1051695,0.81(T),0.0(B),-1.7(N),-1.0673(T),,chr14,33293122,33293122,A,G,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn2035Asp/c.6103A>G|2319|AKAP6|protein_coding|CODING|NM_004274.4|13|1),,,,,0.682,0.6772,0.5308,0.64,0.86,0.53,,0.314833(N),1.000(P),3.55(T),0.0000(T),0.004,-1.133739,5.96,2.16,-1.538000,-0.052000,-0.005000,0.885000,0.003000,0.000000,5.7092
missense_variant,AKAP6,MISSENSE,NM_004274.4:p.Phe2171Tyr/c.6512T>A,tTc/tAc,MODERATE,,0.268371,0.3413,rs4647899,0.28(T),0.006(B),1.265(L),-0.9376(T),,chr14,33293531,33293531,T,A,het,missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe2171Tyr/c.6512T>A|2319|AKAP6|protein_coding|CODING|NM_004274.4|13|1),,,,,0.1718,0.4035,0.2843,0.26,0.21,0.29,,0.458849(N),1.000(P),3.52(T),0.0000(T),0.067,1.948868,5.83,4.64,0.533000,0.973000,2.140000,0.186000,0.001000,0.171000,6.9522
synonymous_variant,EAPP,SILENT,NM_018453.3:p.Ala243Ala/c.729C>T,gcC/gcT,LOW,,0.276957,0.1905,rs7797,,,,,,chr14,34985645,34985645,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala243Ala/c.729C>T|285|EAPP|protein_coding|CODING|NM_018453.3|6|1),"HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.219,0.3678,0.36,0.33,0.37,,,,,,,,,,,,,,,,
synonymous_variant,SNX6,SILENT,NM_152233.2:p.Glu231Glu/c.693G>A,gaG/gaA,LOW,,0.773163,0.8115,rs12432539,,,,,,chr14,35062312,35062312,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu103Glu/c.309G>A|290|SNX6|protein_coding|CODING|NM_021249.3|7|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu231Glu/c.693G>A|418|SNX6|protein_coding|CODING|NM_152233.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.8487,0.8042,0.77,0.70,0.81,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0391,SILENT,NM_014672.3:p.Val29Val/c.87C>G,gtC/gtG,LOW,COSM4148082(1),0.241813,0.3542,rs941653,,,,,,chr14,35592538,35592538,C,G,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val29Val/c.87C>G|567|KIAA0391|protein_coding|CODING|NM_001256678.1|2|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val29Val/c.87C>G|583|KIAA0391|protein_coding|CODING|NM_014672.3|2|1),upstream_gene_variant(MODIFIER||1019||453|PPP2R3C|protein_coding|CODING|NM_017917.2||1),intron_variant(MODIFIER|||c.-26-173C>G|488|KIAA0391|protein_coding|CODING|NM_001256679.1|1|1),intron_variant(MODIFIER|||c.-131+422C>G|211|KIAA0391|protein_coding|CODING|NM_001256680.1|1|1),intron_variant(MODIFIER|||c.-83+422C>G|211|KIAA0391|protein_coding|CODING|NM_001256681.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2188,0.2118,0.165,0.18,0.21,0.17,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0391,SILENT,NM_014672.3:p.Lys76Lys/c.228G>A,aaG/aaA,LOW,,0.000599042,0,rs45583337,,,,,,chr14,35592679,35592679,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys76Lys/c.228G>A|567|KIAA0391|protein_coding|CODING|NM_001256678.1|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys76Lys/c.228G>A|583|KIAA0391|protein_coding|CODING|NM_014672.3|2|1),upstream_gene_variant(MODIFIER||1160||453|PPP2R3C|protein_coding|CODING|NM_017917.2||1),intron_variant(MODIFIER|||c.-26-32G>A|488|KIAA0391|protein_coding|CODING|NM_001256679.1|1|1),intron_variant(MODIFIER|||c.-131+563G>A|211|KIAA0391|protein_coding|CODING|NM_001256680.1|1|1),intron_variant(MODIFIER|||c.-83+563G>A|211|KIAA0391|protein_coding|CODING|NM_001256681.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,CD4:H3K23ac,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0,0.0014,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,PSMA6,SILENT,NM_002791.2:p.Glu192Glu/c.576A>G,gaA/gaG,LOW,COSM1128266(1),0.0229633,0,rs4665,,,,,,chr14,35782253,35782253,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu113Glu/c.339A>G|167|PSMA6|protein_coding|CODING|NM_001282232.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu113Glu/c.339A>G|167|PSMA6|protein_coding|CODING|NM_001282233.1|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu173Glu/c.519A>G|227|PSMA6|protein_coding|CODING|NM_001282234.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu192Glu/c.576A>G|246|PSMA6|protein_coding|CODING|NM_002791.2|5|1),intron_variant(MODIFIER|||n.570-1314A>G||PSMA6||CODING|NR_104110.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.0288,0.0408,0.03,0.00,0.04,,,,,,,,,,,,,,,,
synonymous_variant,NFKBIA,SILENT,NM_020529.2:p.Ala102Ala/c.306C>T,gcC/gcT,LOW,,0.101637,0.0188,rs1050851,,,,,,chr14,35872926,35872926,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala102Ala/c.306C>T|317|NFKBIA|protein_coding|CODING|NM_020529.2|2|1),"NHEK:H3K9ac,HepG2:RXRA,CD4:CBP,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,HepG2:p300,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:HDAC2,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,HepG2:SP1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,HUVEC:H3K4me2,GM12878:MEF2A,CD4:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:FOSL2,IMR90:H4K91ac,NHEK:H3K36me3,GM12878:BCL11A,HepG2:H3K36me3,GM12878:NFKB,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,IMR90:H3K18ac,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Yy1,CD4:H3K9ac,HepG2:Jund,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,CD4:H2BK12ac",,,,0.1472,0.1383,0.2217,0.17,0.06,0.23,,,,,,,,,,,,,,,,
missense_variant,INSM2,MISSENSE,NM_032594.3:p.Asp206Gly/c.617A>G,gAc/gGc,MODERATE,COSM3753952(1),0.996605,1,rs1958260,0.76(T),0.0(B),-0.69(N),-1.0370(T),,chr14,36004075,36004075,A,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp206Gly/c.617A>G|566|INSM2|protein_coding|CODING|NM_032594.3|1|1),"H1ESC:H3K36me3,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:DNase1,K562:Nrsf,HepG2:H3K27me3,GM12878:H3K4me2,GM12878:Nrsf",,,,1,1,1,1.00,0.99,1.00,,,1.000(P),5.67(T),0.0000(T),0.048,-1.567747,3.55,1.63,-0.349000,-0.094000,0.922000,0.074000,0.020000,0.789000,5.2855
missense_variant,MBIP,MISSENSE,NM_016586.2:p.Arg22Ser/c.66A>C,agA/agC,MODERATE,COSM1600069(2),0.926917,0.9554,rs3168891,1(T),"0.0,0.0,0.0(B,B,B)",-1.245(N),-0.9900(T),,chr14,36789729,36789729,T,G,hom,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg22Ser/c.66A>C|343|MBIP|protein_coding|CODING|NM_001144891.1|1|1),missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg22Ser/c.66A>C|344|MBIP|protein_coding|CODING|NM_016586.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.9448,0.9395,0.9394,0.92,0.87,0.95,,0.003049(N),0.996(P),"1.72,1.72,1.68(T,T,T)",0.0000(T),0.331,-0.207102,5.05,5.05,-0.187000,1.509000,1.517000,0.093000,1.000000,1.000000,12.5147
missense_variant,MBIP,MISSENSE,NM_016586.2:p.Leu7His/c.20T>A,cTt/cAt,MODERATE,,0.785942,0.9554,rs2899849,0.6(T),"0.004,0.004,0.004(B,B,B)",0(N),-1.0029(T),,chr14,36789775,36789775,A,T,hom,"missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu7His/c.20T>A|343|MBIP|protein_coding|CODING|NM_001144891.1|1|1),missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu7His/c.20T>A|344|MBIP|protein_coding|CODING|NM_016586.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,HepG2:SP1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,K562:Jund",,,,0.9141,0.8905,0.9364,0.79,0.50,0.95,,0.725765(N),1.000(P),"0.29,0.29,0.29(T,T,T)",0.0000(T),0.432,0.264493,5.05,1.35,0.482000,0.428000,0.117000,0.135000,0.098000,0.000000,2.8854
missense_variant,PAX9,MISSENSE,NM_006194.3:p.Ala240Pro/c.718G>C,Gcg/Ccg,MODERATE,COSM3722947(3),0.331669,0.4315,rs4904210,0.09(T),0.0(B),1.04(L),-1.1847(T),,chr14,37135753,37135753,G,C,het,missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala240Pro/c.718G>C|341|PAX9|protein_coding|CODING|NM_006194.3|4|1),"HUVEC:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.41,0.2738,0.3519,0.32,0.23,0.36,,0.005950(N),0.952(P),"-5.28,-5.28,0.74(D,D,T)",0.0000(T),0.107,1.653459,5.33,3.38,-0.221000,1.266000,1.970000,0.279000,0.997000,0.995000,12.5398
missense_variant,FOXA1,MISSENSE,NM_004496.3:p.Ala83Thr/c.247G>A,Gcc/Acc,MODERATE,COSM3753953(2),0.583067,0.8442,rs7144658,0.54(T),0.013(B),0.9(L),-1.0320(T),,chr14,38061742,38061742,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala83Thr/c.247G>A|472|FOXA1|protein_coding|CODING|NM_004496.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,NH-A:H3K27me3,CD4:H3K79me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.545,0.6614,0.5825,0.54,0.44,0.59,,0.068316(N),0.021(P),"2.36,2.36(T,T)",0.0000(T),0.011,2.770271,3.88,2.96,0.511000,0.784000,1.052000,0.967000,0.680000,1.000000,5.555
synonymous_variant,SEC23A,SILENT,NM_006364.2:p.Lys556Lys/c.1668A>G,aaA/aaG,LOW,COSM3753956(2),0.247804,0.3065,rs11556216,,,,,,chr14,39517925,39517925,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys556Lys/c.1668A>G|765|SEC23A|protein_coding|CODING|NM_006364.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3016,0.281,0.3509,0.27,0.11,0.34,,,,,,,,,,,,,,,,
missense_variant,SEC23A,MISSENSE,NM_006364.2:p.Leu211Val/c.631C>G,Ctt/Gtt,MODERATE,COSM4148091(1),0.778754,0.6488,rs8018720,0.64(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0.835(L),-0.9656(T),,chr14,39556185,39556185,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu211Val/c.631C>G|765|SEC23A|protein_coding|CODING|NM_006364.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7628,0.7579,0.827,0.84,0.86,0.83,,0.000019(N),0.000(P),"-2.15,-1.26,-1.26,-1.26(D,T,T,T)",0.0000(T),0.046,0.997209,5.67,4.77,-0.125000,1.433000,2.531000,0.791000,0.826000,0.978000,12.047
missense_variant,GEMIN2,MISSENSE,NM_003616.2:p.Thr134Ser/c.400A>T,Aca/Tca,MODERATE,,0.000998403,0,rs139047393,,,1.12(L),-1.0228(T),,chr14,39587798,39587798,A,T,het,"missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr134Ser/c.400A>T|265|GEMIN2|protein_coding|CODING|NM_001009182.1|4|1),missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr134Ser/c.400A>T|250|GEMIN2|protein_coding|CODING|NM_001009183.1|4|1),missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr134Ser/c.400A>T|280|GEMIN2|protein_coding|CODING|NM_003616.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0.003,0.00,0.00,0.00,,,0.995(N),,0.0847(T),.,1.649939,5.73,3.24,0.454000,0.377000,1.929000,0.851000,0.978000,0.966000,5.2577
synonymous_variant,PNN,SILENT,NM_002687.3:p.Thr252Thr/c.756C>T,acC/acT,LOW,COSM147768(1),0.124601,0.0734,rs11558739,,,,,,chr14,39648629,39648629,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr252Thr/c.756C>T|717|PNN|protein_coding|CODING|NM_002687.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1207,0.1614,0.1123,0.13,0.14,0.12,,,,,,,,,,,,,,,,
missense_variant,PNN,MISSENSE,NM_002687.3:p.Thr441Ser/c.1321A>T,Acc/Tcc,MODERATE,,0.902955,0.9435,rs2180792,0.9(T),,,-0.9383(T),,chr14,39650234,39650234,A,T,hom,missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr441Ser/c.1321A>T|717|PNN|protein_coding|CODING|NM_002687.3|9|1),"H1ESC:PolII,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8466,0.817,0.9354,0.94,0.94,0.94,,0.021006(N),0.000(P),0.95(T),0.0000(T),0.02,-1.351371,5.9,3.5,-0.265000,0.460000,-0.020000,0.970000,0.998000,0.000000,1.1015
missense_variant,MIA2,MISSENSE,NM_054024.3:p.Ser344Pro/c.1030T>C,Tcc/Ccc,MODERATE,,0.0782748,0.0774,rs3825549,,"0.005,0.004(B,B)",1.525(L),-1.1034(T),,chr14,39716808,39716808,T,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser344Pro/c.1030T>C|654|MIA2|protein_coding|CODING|NM_054024.3|4|1),"IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,HepG2:H3K36me3,NHEK:DNase1",,,,0.1656,0.062,0.0915,0.06,0.03,0.08,,0.022572(N),1.000(N),"0.82,0.84,3.17(T,T,T)",0.0024(T),0.119,2.521850,4.78,-2.64,0.528000,-0.038000,0.129000,0.857000,0.005000,0.001000,0.599
missense_variant,CTAGE5,MISSENSE,NM_001247989.1:p.Val6Ala/c.17T>C,gTt/gCt,MODERATE,,0.91254,0.9405,rs7140561,,"0.0,0.0,0.0(B,B,B)",-1.735(N),-1.0493(T),,chr14,39736680,39736680,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val6Ala/c.17T>C|809|CTAGE5|protein_coding|CODING|NM_001247989.1|1|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val6Ala/c.17T>C|804|CTAGE5|protein_coding|CODING|NM_005930.3|1|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val6Ala/c.17T>C|761|CTAGE5|protein_coding|CODING|NM_203355.2|1|1),5_prime_UTR_variant(MODIFIER||11996|c.-114T>C|729|CTAGE5|protein_coding|CODING|NM_001247990.1|1|1),upstream_gene_variant(MODIFIER||415|||LOC100288846||NON_CODING|NR_038935.1||1),intron_variant(MODIFIER|||c.27+2055T>C|792|CTAGE5|protein_coding|CODING|NM_203354.2|1|1),intron_variant(MODIFIER|||c.-25+949T>C|732|CTAGE5|protein_coding|CODING|NM_001247988.1|1|1),intron_variant(MODIFIER|||c.-25+949T>C|775|CTAGE5|protein_coding|CODING|NM_203356.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,HepG2:p300,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HepG2:HNF4A,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:H2AZ",,,,0.862,0.8256,0.9404,0.95,0.96,0.94,,,1.000(P),"3.43,3.46,3.46,3.59(T,T,T,T)",0.0000(T),0.01,-0.580497,4.4,2.55,-0.971000,0.231000,0.751000,0.003000,0.000000,0.022000,4.7502
missense_variant,CTAGE5,MISSENSE,NM_001247989.1:p.Glu365Gln/c.1093G>C,Gaa/Caa,MODERATE,,0.535942,0.4177,rs1950952,,"0.098,0.12,0.139,0.12,0.098,0.098(B,B,B,B,B,B)",1.615(L),-0.8998(T),,chr14,39777676,39777676,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu331Gln/c.991G>C|732|CTAGE5|protein_coding|CODING|NM_001247988.1|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu365Gln/c.1093G>C|809|CTAGE5|protein_coding|CODING|NM_001247989.1|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu285Gln/c.853G>C|729|CTAGE5|protein_coding|CODING|NM_001247990.1|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu360Gln/c.1078G>C|804|CTAGE5|protein_coding|CODING|NM_005930.3|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu348Gln/c.1042G>C|792|CTAGE5|protein_coding|CODING|NM_203354.2|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu360Gln/c.1078G>C|761|CTAGE5|protein_coding|CODING|NM_203355.2|13|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu331Gln/c.991G>C|775|CTAGE5|protein_coding|CODING|NM_203356.2|13|1)","HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6534,0.5605,0.6511,0.60,0.47,0.66,,,0.998(P),"2.27,-1.23,-1.23,-1.23,-1.23,-1.23,-1.23,-1.23,1.02,-1.23(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.074,2.150357,5.4,4.5,0.585000,1.266000,2.215000,0.939000,0.831000,1.000000,8.2119
missense_variant,CTAGE5,MISSENSE,NM_001247989.1:p.Gly743Arg/c.2227G>A,Ggg/Agg,MODERATE,,0.310703,0.1587,rs1060878,,"0.001,0.001,0.001,0.001,0.001(B,B,B,B,B)",-2.56(N),-0.9488(T),,chr14,39818145,39818145,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly666Arg/c.1996G>A|732|CTAGE5|protein_coding|CODING|NM_001247988.1|22|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly743Arg/c.2227G>A|809|CTAGE5|protein_coding|CODING|NM_001247989.1|23|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly663Arg/c.1987G>A|729|CTAGE5|protein_coding|CODING|NM_001247990.1|23|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly738Arg/c.2212G>A|804|CTAGE5|protein_coding|CODING|NM_005930.3|23|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly726Arg/c.2176G>A|792|CTAGE5|protein_coding|CODING|NM_203354.2|23|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly695Arg/c.2083G>A|761|CTAGE5|protein_coding|CODING|NM_203355.2|22|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly709Arg/c.2125G>A|775|CTAGE5|protein_coding|CODING|NM_203356.2|23|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4294,0.2839,0.3837,0.35,0.32,0.37,,0.002599(N),1.000(P),"1.91,1.91,1.91,1.91,1.91,1.91,1.91,1.91,1.91,1.91(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.155,-0.907019,4.95,3.81,-0.254000,0.329000,1.555000,0.671000,0.998000,1.000000,4.5122
synonymous_variant,FBXO33,SILENT,NM_203301.3:p.Lys253Lys/c.759A>G,aaA/aaG,LOW,,0.176717,0.0724,rs7156962,,,,,,chr14,39871017,39871017,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys253Lys/c.759A>G|555|FBXO33|protein_coding|CODING|NM_203301.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1759,0.0879,0.1213,0.18,0.33,0.10,,,,,,,,,,,,,,,,
synonymous_variant,LRFN5,SILENT,NM_152447.3:p.Ser522Ser/c.1566T>C,tcT/tcC,LOW,,0.705272,0.745,rs6572117,,,,,,chr14,42360633,42360633,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser522Ser/c.1566T>C|719|LRFN5|protein_coding|CODING|NM_152447.3|4|1),,,,,0.7607,0.6398,0.7117,0.70,0.69,0.71,,,,,,,,,,,,,,,,
missense_variant,MIS18BP1,MISSENSE,NM_018353.4:p.Arg355Gln/c.1064G>A,cGg/cAg,MODERATE,,0.0107827,0,rs34862991,0.34(T),0.002(B),0(N),-0.9990(T),,chr14,45711316,45711316,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg355Gln/c.1064G>A|1132|MIS18BP1|protein_coding|CODING|NM_018353.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0031,0.0187,0.0368,0.03,0.01,0.04,,0.459887(N),1.000(N),1.98(T),0.0060(T),0.071,0.228814,4.54,-3.74,-0.229000,-0.653000,-1.103000,0.148000,0.001000,0.000000,6.198
synonymous_variant,KLHDC1,SILENT,NM_172193.2:p.Thr201Thr/c.603A>G,acA/acG,LOW,,0.907748,1,rs4301946,,,,,,chr14,50195679,50195679,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr201Thr/c.603A>G|406|KLHDC1|protein_coding|CODING|NM_172193.2|7|1),,,,,1,0.9741,0.999,0.91,0.73,1.00,,,,,,,,,,,,,,,,
synonymous_variant,NEMF,SILENT,NM_004713.3:p.Asn1072Asn/c.3216T>C,aaT/aaC,LOW,,0.958866,1,rs10143621,,,,,,chr14,50251369,50251369,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1072Asn/c.3216T>C|1076|NEMF|protein_coding|CODING|NM_004713.3|33|1),downstream_gene_variant(MODIFIER||1513||406|KLHDC2|protein_coding|CODING|NM_014315.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.96,0.89,1.00,,,,,,,,,,,,,,,,
missense_variant,NEMF,MISSENSE,NM_004713.3:p.Ser257Cys/c.769A>T,Agc/Tgc,MODERATE,,0.927316,0.9851,rs3100906,0.1(T),"0.96,0.936,0.965,0.947,0.976(D,D,D,D,D)",2.71(M),-1.0756(T),,chr14,50298962,50298962,T,A,hom,missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser257Cys/c.769A>T|1076|NEMF|protein_coding|CODING|NM_004713.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9769,0.996,0.93,0.79,1.00,,0.000000(D),0.000(P),"0.94,0.94,0.94,0.94(T,T,T,T)",0.0000(T),0.784,4.241907,5.33,5.33,0.460000,2.017000,4.464000,0.981000,1.000000,1.000000,14.4603
missense_variant,C14orf182,MISSENSE,NM_001012706.1:p.Pro38Leu/c.113C>T,cCg/cTg,MODERATE,COSM3753973(1),0.295727,0.124,rs6572635,0(D),0.096(B),,-1.0012(T),,chr14,50472405,50472405,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro38Leu/c.113C>T|107|C14orf182|protein_coding|CODING|NM_001012706.1|1|1),downstream_gene_variant(MODIFIER||1626|||LOC100506499||NON_CODING|NR_102736.1||1)",H1ESC:H3K27me3,,,,0.3528,0.317,0.2773,0.30,0.37,0.27,,,1.000(P),0.01(T),0.0000(T),0.047,1.385916,3.63,1.72,-0.263000,0.492000,0.925000,0.014000,0.004000,0.050000,4.3609
synonymous_variant,SOS2,SILENT,NM_006939.2:p.Asn744Asn/c.2232C>T,aaC/aaT,LOW,,0.518371,0.4276,rs2229869,,,,,,chr14,50616878,50616878,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn744Asn/c.2232C>T|1332|SOS2|protein_coding|CODING|NM_006939.2|14|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.647,0.67,0.61,0.46,0.68,,,,,,,,,,,,,,,,
missense_variant,L2HGDH,MISSENSE,NM_024884.2:p.Leu18Arg/c.53T>G,cTt/cGt,MODERATE,COSM3753977(4),0.572684,0.6171,rs2275591,0.68(T),"0.0,0.01(B,B)",0(N),-1.0301(T),,chr14,50778816,50778816,A,C,het,"missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu18Arg/c.53T>G|463|L2HGDH|protein_coding|CODING|NM_024884.2|1|1),upstream_gene_variant(MODIFIER||231||215|ATP5S|protein_coding|CODING|NM_001003803.2||1),upstream_gene_variant(MODIFIER||231||127|ATP5S|protein_coding|CODING|NM_001003805.2||1),upstream_gene_variant(MODIFIER||231||136|ATP5S|protein_coding|CODING|NM_015684.3||1),upstream_gene_variant(MODIFIER||231|||ATP5S||CODING|NR_033761.1||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Cmyc,K562:CTCFL,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,HeLa-S3:E2F6",,,,0.5348,0.5865,0.5596,0.56,0.56,0.56,,0.458219(N),1.000(P),"-2.95,-3.1,-3.1,-2.39,-2.16(D,D,D,D,D)",0.0000(T),0.127,0.762257,3.97,-2.22,-0.648000,-0.779000,-4.010000,0.001000,0.000000,0.000000,3.8697
synonymous_variant,L2HGDH,SILENT,NM_024884.2:p.Val2Val/c.6G>T,gtG/gtT,LOW,,0.000199681,0,rs113626637,,,,,,chr14,50778863,50778863,C,A,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val2Val/c.6G>T|463|L2HGDH|protein_coding|CODING|NM_024884.2|1|1),upstream_gene_variant(MODIFIER||184||215|ATP5S|protein_coding|CODING|NM_001003803.2||1),upstream_gene_variant(MODIFIER||184||127|ATP5S|protein_coding|CODING|NM_001003805.2||1),upstream_gene_variant(MODIFIER||184||136|ATP5S|protein_coding|CODING|NM_015684.3||1),upstream_gene_variant(MODIFIER||184|||ATP5S||CODING|NR_033761.1||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Cmyc,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,HeLa-S3:E2F6",,,,0,0,0.001,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,ATP5S,MISSENSE,NM_001003803.2:p.Pro18Leu/c.53C>T,cCg/cTg,MODERATE,COSM147776(2),0.56889,0.6171,rs2275592,1(T),"0.0,0.0,0.0(B,B,B)",-2.05(N),-0.9274(T),,chr14,50788213,50788213,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro18Leu/c.53C>T|215|ATP5S|protein_coding|CODING|NM_001003803.2|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro18Leu/c.53C>T|127|ATP5S|protein_coding|CODING|NM_001003805.2|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro18Leu/c.53C>T|136|ATP5S|protein_coding|CODING|NM_015684.3|2|1),non_coding_exon_variant(MODIFIER|||n.781C>T||ATP5S||CODING|NR_033761.1|3|1)","NHEK:CTCF,NHEK:H3K27ac,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,K562:H3K27ac,HUVEC:H3K4me3,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,HSMM:H3K27ac,HSMM:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,IMR90:DNase1,HeLa-S3:Cjun,HMEC:H3K27ac,K562:Cfos,HUVEC:Cjun,HUVEC:DNase1,K562:USF1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Junb,HUVEC:H3K4me2,K562:Cjun,K562:FOSL1,HeLa-S3:Cfos,NHEK:H3K4me2,HUVEC:H3K27ac,HMEC:DNase1,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,K562:Jund",,,,0.5358,0.5821,0.5606,0.56,0.55,0.56,,,0.000(P),"1.17,1.15,1.79(T,T,T)",0.0000(T),0.034,0.317754,5.56,5.56,-0.352000,1.049000,2.614000,0.961000,1.000000,1.000000,10.3135
missense_variant,CDKL1,MISSENSE,NM_004196.4:p.Gln275Glu/c.823C>G,Caa/Gaa,MODERATE,COSM3736105(1),0.581869,0.6181,rs7161563,0.61(T),0.001(B),0.69(N),-0.9313(T),,chr14,50799126,50799126,G,C,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln275Glu/c.823C>G|358|CDKL1|protein_coding|CODING|NM_004196.4|8|1),3_prime_UTR_variant(MODIFIER||252|c.*252C>G|276|CDKL1|protein_coding|CODING|NM_001282236.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5409,0.5908,0.5606,0.57,0.58,0.57,,,0.000(P),-0.09(T),0.0000(T),0.137,-1.053298,6.06,4.21,-0.120000,0.880000,1.719000,0.185000,0.940000,0.870000,8.3926
synonymous_variant,ATL1,SILENT,NM_015915.4:p.Pro28Pro/c.84A>G,ccA/ccG,LOW,COSM3753981(1),0.164137,0.0655,,,,,,,chr14,51054598,51054598,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro28Pro/c.84A>G|553|ATL1|protein_coding|CODING|NM_001127713.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro28Pro/c.84A>G|558|ATL1|protein_coding|CODING|NM_015915.4|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro28Pro/c.84A>G|553|ATL1|protein_coding|CODING|NM_181598.3|2|1)",,,RCV000020724.1|RCV000116421.2|RCV000123708.1,,0.0644,0.1225,0.1282,0.20,0.31,0.14,,,,,,,,,,,,,,,,
synonymous_variant,ATL1,SILENT,NM_015915.4:p.Glu117Glu/c.351G>A,gaG/gaA,LOW,,0.821486,0.7887,rs1060197,,,,,,chr14,51057727,51057727,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu117Glu/c.351G>A|553|ATL1|protein_coding|CODING|NM_001127713.1|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu117Glu/c.351G>A|558|ATL1|protein_coding|CODING|NM_015915.4|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu117Glu/c.351G>A|553|ATL1|protein_coding|CODING|NM_181598.3|3|1)",,,RCV000020720.1|RCV000116420.2,,0.8027,0.8069,0.6978,0.80,0.93,0.73,,,,,,,,,,,,,,,,
synonymous_variant,NIN,SILENT,NM_020921.3:p.Gln1879Gln/c.5637G>A,caG/caA,LOW,,0.508786,0.3155,rs11376,,,,-1.1022(T),,chr14,51204996,51204996,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1166Gln/c.3498G>A|1377|NIN|protein_coding|CODING|NM_016350.4|26|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1879Gln/c.5637G>A|2133|NIN|protein_coding|CODING|NM_020921.3|27|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1879Gln/c.5637G>A|2046|NIN|protein_coding|CODING|NM_182944.2|27|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1879Gln/c.5637G>A|2090|NIN|protein_coding|CODING|NM_182946.1|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117813.2,,0.4939,0.4092,0.4851,0.58,0.70,0.52,,,0.062(P),,0.0000(T),.,-0.339670,5.72,-11.4,-0.360000,-3.046000,-0.727000,0.541000,0.001000,0.024000,15.2542
missense_variant,NIN,MISSENSE,NM_020921.3:p.Gly1320Glu/c.3959G>A,gGg/gAg,MODERATE,,0.764377,0.6806,rs2073347,1(T),"0.001,0.001,0.0,0.0(B,B,B,B)",-1.78(N),-0.9965(T),,chr14,51223789,51223789,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly1320Glu/c.3959G>A|2133|NIN|protein_coding|CODING|NM_020921.3|18|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly1320Glu/c.3959G>A|2046|NIN|protein_coding|CODING|NM_182944.2|18|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly1320Glu/c.3959G>A|2090|NIN|protein_coding|CODING|NM_182946.1|18|1),intron_variant(MODIFIER|||c.2400-2204G>A|1377|NIN|protein_coding|CODING|NM_016350.4|17|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6524,0.8487,0.7535,0.79,0.85,0.76,,0.028381(N),0.000(P),"3.8,3.53,3.53,3.53(T,T,T,T)",0.0000(T),0.456,-0.229938,6.06,6.06,-0.254000,1.119000,3.998000,0.971000,0.994000,1.000000,11.633
missense_variant,NIN,MISSENSE,NM_020921.3:p.Gln1125Pro/c.3374A>C,cAg/cCg,MODERATE,,0.784944,0.6954,rs12882191,0.85(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.125(N),-1.0237(T),,chr14,51224374,51224374,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln1125Pro/c.3374A>C|2133|NIN|protein_coding|CODING|NM_020921.3|18|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln1125Pro/c.3374A>C|2046|NIN|protein_coding|CODING|NM_182944.2|18|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln1125Pro/c.3374A>C|2090|NIN|protein_coding|CODING|NM_182946.1|18|1),intron_variant(MODIFIER|||c.2399+2201A>C|1377|NIN|protein_coding|CODING|NM_016350.4|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.853,0.7594,0.81,0.89,0.76,,0.118626(N),1.000(P),"3.58,3.31,3.31,3.31(T,T,T,T)",0.0000(T),0.384,-3.043377,5.93,4.07,-1.101000,0.851000,0.518000,0.001000,0.001000,0.000000,3.8935
synonymous_variant,NIN,SILENT,NM_020921.3:p.Ser1030Ser/c.3090A>T,tcA/tcT,LOW,COSM3999282(1),0.320887,0.503,rs2073348,,,,-0.9267(T),,chr14,51224658,51224658,T,A,hom,"synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser1030Ser/c.3090A>T|2133|NIN|protein_coding|CODING|NM_020921.3|18|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser1030Ser/c.3090A>T|2046|NIN|protein_coding|CODING|NM_182944.2|18|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser1030Ser/c.3090A>T|2090|NIN|protein_coding|CODING|NM_182946.1|18|1),intron_variant(MODIFIER|||c.2399+1917A>T|1377|NIN|protein_coding|CODING|NM_016350.4|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117802.2,,0.2628,0.4308,0.3131,0.28,0.19,0.32,,,1.000(P),,0.0000(T),.,-1.619033,5.3,0.168,-0.232000,0.042000,-0.765000,0.065000,0.002000,0.000000,0.9128
synonymous_variant,NIN,SILENT,NM_020921.3:p.Ala872Ala/c.2616C>A,gcC/gcA,LOW,COSM3999285(1),0.38758,0.5099,rs2073349,,,,-0.8856(T),,chr14,51225132,51225132,G,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala872Ala/c.2616C>A|2133|NIN|protein_coding|CODING|NM_020921.3|18|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala872Ala/c.2616C>A|2046|NIN|protein_coding|CODING|NM_182944.2|18|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala872Ala/c.2616C>A|2090|NIN|protein_coding|CODING|NM_182946.1|18|1),intron_variant(MODIFIER|||c.2399+1443C>A|1377|NIN|protein_coding|CODING|NM_016350.4|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117798.2,,0.3415,0.4712,0.3628,0.34,0.29,0.37,,,0.000(P),,0.0000(T),.,0.626620,5.82,4.85,0.561000,2.756000,2.971000,0.873000,1.000000,1.000000,16.7684
synonymous_variant,NIN,SILENT,NM_020921.3:p.Val376Val/c.1128T>C,gtT/gtC,LOW,COSM3753996(1),0.577276,0.8403,rs17793018,,,,,,chr14,51237701,51237701,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val376Val/c.1128T>C|1377|NIN|protein_coding|CODING|NM_016350.4|11|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val376Val/c.1128T>C|2133|NIN|protein_coding|CODING|NM_020921.3|11|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val376Val/c.1128T>C|2046|NIN|protein_coding|CODING|NM_182944.2|11|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val376Val/c.1128T>C|2090|NIN|protein_coding|CODING|NM_182946.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117795.2,,0.6748,0.6182,0.6083,0.50,0.30,0.61,,,,,,,,,,,,,,,,
synonymous_variant,NIN,SILENT,NM_020921.3:p.Leu311Leu/c.933G>C,ctG/ctC,LOW,,0.992412,1,rs8020503,,,,,,chr14,51239067,51239067,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu311Leu/c.933G>C|1377|NIN|protein_coding|CODING|NM_016350.4|9|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu311Leu/c.933G>C|2133|NIN|protein_coding|CODING|NM_020921.3|9|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu311Leu/c.933G>C|2046|NIN|protein_coding|CODING|NM_182944.2|9|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu311Leu/c.933G>C|2090|NIN|protein_coding|CODING|NM_182946.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117819.2,,1,0.9957,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,ABHD12B,MISSENSE,NM_001206673.1:p.Pro335Ala/c.1003C>G,Cct/Gct,MODERATE,COSM3754000(1),0.11901,0.0913,rs34800262,0.71(T),"0.115,0.07(B,B)",0.83(L),-1.1266(T),,chr14,51370852,51370852,C,G,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro335Ala/c.1003C>G|362|ABHD12B|protein_coding|CODING|NM_001206673.1|12|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro258Ala/c.772C>G|285|ABHD12B|protein_coding|CODING|NM_181814.1|10|1),downstream_gene_variant(MODIFIER||1083||813|PYGL|protein_coding|CODING|NM_001163940.1||1),downstream_gene_variant(MODIFIER||1083||847|PYGL|protein_coding|CODING|NM_002863.4||1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.227,0.0865,0.0915,0.09,0.10,0.08,,0.014814(N),1.000(D),"2.25,0.63,2.27(T,T,T)",0.0032(T),0.472,1.894362,4.94,4.94,0.655000,2.675000,4.256000,0.992000,1.000000,0.999000,15.7423
synonymous_variant,ABHD12B,SILENT,NM_001206673.1:p.Ser362Ser/c.1086A>C,tcA/tcC,LOW,COSM3999289(1),0.0401358,0.0565,rs17123116,,,,,,chr14,51371081,51371081,A,C,het,"synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser362Ser/c.1086A>C|362|ABHD12B|protein_coding|CODING|NM_001206673.1|13|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser285Ser/c.855A>C|285|ABHD12B|protein_coding|CODING|NM_181814.1|11|1),downstream_gene_variant(MODIFIER||854||813|PYGL|protein_coding|CODING|NM_001163940.1||1),downstream_gene_variant(MODIFIER||854||847|PYGL|protein_coding|CODING|NM_002863.4||1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0307,0.0548,0.0169,0.03,0.05,0.02,,,,,,,,,,,,,,,,
missense_variant,PYGL,MISSENSE,NM_002863.4:p.Ile806Leu/c.2416A>T,Ata/Tta,MODERATE,,0.0101837,0.0149,rs34313873,0.01(D),"0.169,0.362,0.216(B,B,B)",3.185(M),0.5870(D),,chr14,51372238,51372238,T,A,het,"missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile772Leu/c.2314A>T|813|PYGL|protein_coding|CODING|NM_001163940.1|19|1),missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile806Leu/c.2416A>T|847|PYGL|protein_coding|CODING|NM_002863.4|20|1),downstream_gene_variant(MODIFIER||550||362|ABHD12B|protein_coding|CODING|NM_001206673.1||1),downstream_gene_variant(MODIFIER||550||285|ABHD12B|protein_coding|CODING|NM_181814.1||1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0153,0.0072,0.0139,0.01,0.00,0.02,,0.000000(D),1.000(D),"-3.22,-3.22(D,D)",0.7574(D),0.286,4.165516,6.07,6.07,0.533000,2.326000,8.040000,0.557000,1.000000,1.000000,15.4647
synonymous_variant,PYGL,SILENT,NM_002863.4:p.Ser31Ser/c.93T>C,agT/agC,LOW,,0.0648962,0.1022,rs17123244,,,,,,chr14,51411029,51411029,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser31Ser/c.93T>C|813|PYGL|protein_coding|CODING|NM_001163940.1|1|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser31Ser/c.93T>C|847|PYGL|protein_coding|CODING|NM_002863.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0706,0.0893,0.0328,0.04,0.04,0.04,,,,,,,,,,,,,,,,
missense_variant,TRIM9,MISSENSE,NM_015163.5:p.Leu653Phe/c.1959A>C,ttA/ttC,MODERATE,COSM3736113(2),0.589856,0.6925,rs2275462,0.66(T),"0.105,0.077(B,B)",1.265(L),-0.9040(T),,chr14,51446216,51446216,T,G,hom,missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu653Phe/c.1959A>C|710|TRIM9|protein_coding|CODING|NM_015163.5|9|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6309,0.7262,0.5537,0.52,0.44,0.57,,0.000032(N),0.000(P),"-0.44,-0.74(T,T)",0.0000(T),0.065,2.876985,5.89,3.54,0.455000,1.035000,0.502000,0.993000,1.000000,0.999000,1.0846
synonymous_variant,TMX1,SILENT,NM_030755.4:p.Pro216Pro/c.648G>A,ccG/ccA,LOW,,0.711062,0.6349,rs7160810,,,,,,chr14,51716467,51716467,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro216Pro/c.648G>A|280|TMX1|protein_coding|CODING|NM_030755.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6677,0.7392,0.7505,0.76,0.74,0.77,,,,,,,,,,,,,,,,
synonymous_variant,FRMD6,SILENT,NM_001267046.1:p.Ser296Ser/c.888T>A,tcT/tcA,LOW,,0.669529,0.628,rs731715,,,,,,chr14,52182081,52182081,T,A,hom,"synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser288Ser/c.864T>A|614|FRMD6|protein_coding|CODING|NM_001042481.2|11|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser296Ser/c.888T>A|622|FRMD6|protein_coding|CODING|NM_001267046.1|10|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser288Ser/c.864T>A|614|FRMD6|protein_coding|CODING|NM_152330.3|10|1),upstream_gene_variant(MODIFIER||1920||264|FRMD6|protein_coding|CODING|NM_001267047.1||1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6207,0.6888,0.7187,0.70,0.69,0.71,,,,,,,,,,,,,,,,
synonymous_variant,FRMD6,SILENT,NM_001267046.1:p.Thr406Thr/c.1218G>A,acG/acA,LOW,,0.229433,0.2649,rs2277495,,,,,,chr14,52186966,52186966,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr398Thr/c.1194G>A|614|FRMD6|protein_coding|CODING|NM_001042481.2|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr406Thr/c.1218G>A|622|FRMD6|protein_coding|CODING|NM_001267046.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr48Thr/c.144G>A|264|FRMD6|protein_coding|CODING|NM_001267047.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr398Thr/c.1194G>A|614|FRMD6|protein_coding|CODING|NM_152330.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2352,0.2795,0.3211,0.25,0.12,0.31,,,,,,,,,,,,,,,,
synonymous_variant,FRMD6,SILENT,NM_001267046.1:p.Pro408Pro/c.1224A>G,ccA/ccG,LOW,,0.337859,0.3552,rs2277494,,,,,,chr14,52186972,52186972,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro400Pro/c.1200A>G|614|FRMD6|protein_coding|CODING|NM_001042481.2|12|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro408Pro/c.1224A>G|622|FRMD6|protein_coding|CODING|NM_001267046.1|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro50Pro/c.150A>G|264|FRMD6|protein_coding|CODING|NM_001267047.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro400Pro/c.1200A>G|614|FRMD6|protein_coding|CODING|NM_152330.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3456,0.33,0.2525,0.27,0.36,0.23,,,,,,,,,,,,,,,,
missense_variant,NID2,MISSENSE,NM_007361.3:p.Gly760Val/c.2279G>T,gGg/gTg,MODERATE,,0.91893,0.9683,rs2273430,0.3(T),"0.0,0.0,0.0(B,B,B)",-2.975(N),-0.9026(T),,chr14,52496387,52496387,C,A,hom,missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly760Val/c.2279G>T|1375|NID2|protein_coding|CODING|NM_007361.3|10|1),"IMR90:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac",,,,0.9826,0.9769,0.992,0.93,0.81,0.99,,0.003401(N),0.139(P),"-1.76,-1.62(D,D)",0.0000(T),0.413,0.268728,5.68,4.53,-0.256000,0.993000,1.264000,0.263000,0.985000,0.970000,8.6614
missense_variant,NID2,MISSENSE,NM_007361.3:p.Ser656Pro/c.1966T>C,Tca/Cca,MODERATE,,0.858027,0.8522,rs3742536,1(T),"0.002,0.0,0.0,0.0(B,B,B,B)",-2.265(N),-0.9688(T),,chr14,52507429,52507429,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser656Pro/c.1966T>C|1375|NID2|protein_coding|CODING|NM_007361.3|8|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.9018,0.7882,0.7863,0.81,0.89,0.77,,0.000000(N),0.984(P),"2.24,2.24(T,T)",0.0000(T),0.107,0.720925,5.95,5.06,-0.128000,0.866000,5.946000,0.842000,0.601000,1.000000,12.5822
missense_variant,NID2,MISSENSE,NM_007361.3:p.Pro529Ser/c.1585C>T,Cct/Tct,MODERATE,,0.0105831,0,rs17831525,0.01(D),"0.893,0.964,0.934(P,D,D)",2.44(M),-0.7266(T),,chr14,52509063,52509063,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro529Ser/c.1585C>T|1375|NID2|protein_coding|CODING|NM_007361.3|7|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0.0173,0.0398,0.02,0.01,0.03,,0.000007(D),1.000(D),"0.61,0.61(T,T)",0.1022(T),0.329,3.851885,6.16,6.16,0.650000,2.937000,5.969000,0.553000,0.970000,1.000000,16.2426
missense_variant,NID2,MISSENSE,NM_007361.3:p.Gly453Asp/c.1358G>A,gGt/gAt,MODERATE,COSM3754005(2),0.571086,0.4425,rs2101919,0.57(T),"0.009,0.002(B,B)",0(N),-1.0118(T),,chr14,52520368,52520368,C,T,hom,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly453Asp/c.1358G>A|1375|NID2|protein_coding|CODING|NM_007361.3|5|1),"NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6892,0.5648,0.7525,0.67,0.50,0.75,,0.484656(N),1.000(P),"-1.71,-1.6(D,D)",0.0000(T),0.117,0.385827,5.61,-5.03,-0.165000,-0.995000,-0.119000,0.000000,0.000000,0.000000,10.746
missense_variant,NID2,MISSENSE,NM_007361.3:p.Pro354His/c.1061C>A,cCt/cAt,MODERATE,,0.0277556,0,rs35657569,0.04(D),"0.875,0.338(P,B)",0.895(L),-0.9174(T),,chr14,52520746,52520746,G,T,het,missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro354His/c.1061C>A|1375|NID2|protein_coding|CODING|NM_007361.3|4|1),"NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0082,0.0519,0.0895,0.07,0.02,0.09,,0.642768(N),1.000(N),"-1.79,-1.69(D,D)",0.0381(T),0.114,2.674903,5.48,1.27,0.563000,0.664000,0.286000,0.025000,0.001000,0.000000,2.5868
synonymous_variant,NID2,SILENT,NM_007361.3:p.Tyr318Tyr/c.954T>C,taT/taC,LOW,,0.980631,1,rs904059,,,,,,chr14,52520853,52520853,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr318Tyr/c.954T>C|1375|NID2|protein_coding|CODING|NM_007361.3|4|1),"NH-A:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,NID2,MISSENSE,NM_007361.3:p.Pro22Gln/c.65C>A,cCg/cAg,MODERATE,COSM4148128(1),0.804313,0.999,rs386589369,,,-0.69(N),,,chr14,52535648,52535648,G,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cAg|p.Pro22Gln/c.65C>A|1375|NID2|protein_coding|CODING|NM_007361.3|1|1),"HepG2:H3K4me2,HSMM:H2AZ,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HUVEC:H3K4me2,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,IMR90:H3K18ac,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9489,0.8732,0.8698,0.74,0.51,0.87,,,1.000(P),,,.,0.851112,4.35,1.49,-0.680000,0.518000,0.356000,0.193000,0.528000,0.658000,3.0685
synonymous_variant,PTGDR,SILENT,NM_000953.2:p.Arg348Arg/c.1044G>A,cgG/cgA,LOW,,0.0806709,0.0129,rs17125273,,,,,,chr14,52741646,52741646,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg348Arg/c.1044G>A|359|PTGDR|protein_coding|CODING|NM_000953.2|2|1),3_prime_UTR_variant(MODIFIER||5433|c.*244G>A|296|PTGDR|protein_coding|CODING|NM_001281469.1|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1431,0.0807,0.1223,0.11,0.06,0.13,,,,,,,,,,,,,,,,
missense_variant,GPR137C,MISSENSE,NM_001099652.1:p.Val248Ile/c.742G>A,Gtc/Atc,MODERATE,COSM3754006(1),0.41234,0.4157,rs762063,,,0.97(L),-0.9313(T),,chr14,53098902,53098902,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val248Ile/c.742G>A|429|GPR137C|protein_coding|CODING|NM_001099652.1|4|1),,,,,0.3967,0.5288,0.5626,0.45,0.29,0.53,,,1.000(P),,0.0000(T),.,1.778467,5.58,3.32,0.591000,1.149000,3.034000,0.976000,0.592000,0.980000,7.5544
synonymous_variant,FERMT2,SILENT,NM_001134999.1:p.Tyr295Tyr/c.885C>T,taC/taT,LOW,,0.719649,0.7262,rs2357947,,,,,,chr14,53345378,53345378,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr295Tyr/c.885C>T|687|FERMT2|protein_coding|CODING|NM_001134999.1|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr295Tyr/c.885C>T|633|FERMT2|protein_coding|CODING|NM_001135000.1|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr295Tyr/c.885C>T|680|FERMT2|protein_coding|CODING|NM_006832.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8517,0.8228,0.9036,0.76,0.49,0.91,,,,,,,,,,,,,,,,
synonymous_variant,DDHD1,SILENT,NM_001160148.1:p.Thr586Thr/c.1758T>A,acT/acA,LOW,,0.817692,0.9812,rs4898778,,,,,,chr14,53529669,53529669,A,T,hom,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr593Thr/c.1779T>A|879|DDHD1|protein_coding|CODING|NM_001160147.1|8|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr586Thr/c.1758T>A|900|DDHD1|protein_coding|CODING|NM_001160148.1|7|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr586Thr/c.1758T>A|872|DDHD1|protein_coding|CODING|NM_030637.2|7|1)","NH-A:DNase1,HSMM:DNase1",,,,0.8742,0.8876,0.837,0.77,0.63,0.84,,,,,,,,,,,,,,,,
synonymous_variant,DDHD1,SILENT,NM_001160148.1:p.His118His/c.354C>T,caC/caT,LOW,COSM3754008(3),0.752196,0.9673,rs2358188,,,,,,chr14,53619463,53619463,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His118His/c.354C>T|879|DDHD1|protein_coding|CODING|NM_001160147.1|1|1),synonymous_variant(LOW|SILENT|caC/caT|p.His118His/c.354C>T|900|DDHD1|protein_coding|CODING|NM_001160148.1|1|1),synonymous_variant(LOW|SILENT|caC/caT|p.His118His/c.354C>T|872|DDHD1|protein_coding|CODING|NM_030637.2|1|1),upstream_gene_variant(MODIFIER||609|||LOC101927620||NON_CODING|NR_110062.1||1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8804,0.8501,0.835,,,,,,,,,,,,,,,,,,,
synonymous_variant,DDHD1,SILENT,NM_001160148.1:p.Phe91Phe/c.273C>T,ttC/ttT,LOW,COSM4148135(2),0.750399,0.9673,rs2358189,,,,,,chr14,53619544,53619544,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe91Phe/c.273C>T|879|DDHD1|protein_coding|CODING|NM_001160147.1|1|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe91Phe/c.273C>T|900|DDHD1|protein_coding|CODING|NM_001160148.1|1|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe91Phe/c.273C>T|872|DDHD1|protein_coding|CODING|NM_030637.2|1|1),upstream_gene_variant(MODIFIER||528|||LOC101927620||NON_CODING|NR_110062.1||1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.8804,0.8501,0.835,0.70,0.44,0.84,,,,,,,,,,,,,,,,
missense_variant,BMP4,MISSENSE,NM_001202.3:p.Val152Ala/c.455T>C,gTg/gCg,MODERATE,COSM3754009(1),0.325679,0.2857,rs17563,0.28(T),0.007(B),1.39(L),-0.9205(T),,chr14,54417522,54417522,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val152Ala/c.455T>C|408|BMP4|protein_coding|CODING|NM_001202.3|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val152Ala/c.455T>C|408|BMP4|protein_coding|CODING|NM_130850.2|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val152Ala/c.455T>C|408|BMP4|protein_coding|CODING|NM_130851.2|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K4me3,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,HSMM:H3K36me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Primary_tooth_development_time_to_first_tooth_eruption,,,0.3037,0.3617,0.5497,0.45,0.26,0.55,,0.000032(N),0.001(P),"-0.08,-0.08(T,T)",0.0000(T),0.176,1.864500,5.2,4.05,0.533000,0.993000,5.063000,0.999000,1.000000,1.000000,9.1323
missense_variant,SOCS4,MISSENSE,NM_080867.2:p.Pro136Leu/c.407C>T,cCt/cTt,MODERATE,,,,,0.01(D),0.622(P),1.585(L),-0.9387(T),,chr14,55510166,55510166,C,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro136Leu/c.407C>T|440|SOCS4|protein_coding|CODING|NM_080867.2|2|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro136Leu/c.407C>T|440|SOCS4|protein_coding|CODING|NM_199421.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000225(D),1.000(D),"1.3,1.3,1.3(T,T,T)",0.1427(T),0.561,3.598648,5.76,5.76,0.655000,2.710000,3.901000,0.997000,1.000000,0.997000,19.968
missense_variant,TBPL2,MISSENSE,NM_199047.2:p.Arg31Pro/c.92G>C,cGg/cCg,MODERATE,COSM433153(3),0.684704,0.6349,rs8019270,0.18(T),0.0(B),0(N),-0.9865(T),,chr14,55907172,55907172,C,G,hom,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg31Pro/c.92G>C|375|TBPL2|protein_coding|CODING|NM_199047.2|1|1),"HUVEC:CTCF,H1ESC:DNase1,H1ESC:Rad21,H1ESC:CTCF",,,,0.6268,0.7291,0.5984,0.65,0.78,0.58,,0.683464(N),1.000(P),0.9(T),0.0000(T),0.01,0.345715,3.12,-3.98,-1.567000,-1.351000,-0.407000,0.001000,0.000000,0.000000,6.0453
missense_variant,TMEM260,MISSENSE,NM_017799.3:p.Ala245Ser/c.733G>T,Gcc/Tcc,MODERATE,,0.108826,0.004,rs17776256,0.22(T),0.999(D),2.215(M),-1.2095(T),,chr14,57075920,57075920,G,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala245Ser/c.733G>T|707|TMEM260|protein_coding|CODING|NM_017799.3|6|1),"NHEK:H3K27ac,H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1483,0.098,0.1521,0.13,0.12,0.13,,0.000000(D),0.000(P),"1.47,0.91(T,T)",0.0022(T),0.391,4.690097,6.06,6.06,0.650000,2.880000,9.730000,0.517000,0.972000,1.000000,20.6397
missense_variant,TMEM260,MISSENSE,NM_017799.3:p.Ser565Asn/c.1694G>A,aGt/aAt,MODERATE,,0.704073,0.6597,rs1041316,1(T),0.0(B),-1.79(N),-0.9746(T),,chr14,57099859,57099859,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser565Asn/c.1694G>A|707|TMEM260|protein_coding|CODING|NM_017799.3|13|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7086,0.6282,0.7097,0.75,0.77,0.73,,0.003118(N),1.000(P),"1.57,1.07(T,T)",0.0000(T),0.033,-1.491724,5.57,1.69,-0.269000,-0.202000,1.028000,0.345000,0.000000,0.031000,4.0749
synonymous_variant,NAA30,SILENT,NM_001011713.2:p.Thr173Thr/c.519C>G,acC/acG,LOW,,0.00658946,0,rs45583845,,,,-0.9804(T),,chr14,57858194,57858194,C,G,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr173Thr/c.519C>G|362|NAA30|protein_coding|CODING|NM_001011713.2|2|1),"CD4:H3K9me1,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.001,0.0043,0.0268,0.02,0.01,0.03,,,0.976(D),,0.0392(T),.,0.483760,4.32,-6.63,-0.175000,-1.368000,-0.668000,0.917000,0.006000,0.000000,3.5171
synonymous_variant,C14orf105,SILENT,NM_001283056.1:p.Arg320Arg/c.960G>A,agG/agA,LOW,COSM3754014(1),0.665935,0.9603,rs1152531,,,,,,chr14,57938124,57938124,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg320Arg/c.960G>A|336|C14orf105|protein_coding|CODING|NM_001283056.1|7|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg279Arg/c.837G>A|295|C14orf105|protein_coding|CODING|NM_001283057.1|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg191Arg/c.573G>A|207|C14orf105|protein_coding|CODING|NM_001283058.1|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg191Arg/c.573G>A|207|C14orf105|protein_coding|CODING|NM_001283059.1|6|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg280Arg/c.840G>A|296|C14orf105|protein_coding|CODING|NM_018168.3|6|1)",HUVEC:H3K27me3,,,,0.8885,0.7622,0.7445,0.58,0.26,0.74,,,,,,,,,,,,,,,,
missense_variant,C14orf105,MISSENSE,NM_001283056.1:p.Tyr275Cys/c.824A>G,tAc/tGc,MODERATE,,0.89357,1,rs1152530,0.19(T),"0.003,0.029,0.029(B,B,B)",0.49(N),-1.0068(T),,chr14,57938260,57938260,T,C,hom,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr275Cys/c.824A>G|336|C14orf105|protein_coding|CODING|NM_001283056.1|7|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr234Cys/c.701A>G|295|C14orf105|protein_coding|CODING|NM_001283057.1|6|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr146Cys/c.437A>G|207|C14orf105|protein_coding|CODING|NM_001283058.1|6|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr146Cys/c.437A>G|207|C14orf105|protein_coding|CODING|NM_001283059.1|6|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr235Cys/c.704A>G|296|C14orf105|protein_coding|CODING|NM_018168.3|6|1)",HUVEC:H3K27me3,,,,1,0.9741,0.998,0.89,0.67,1.00,,0.976952(N),1.000(P),"0.67,0.67,0.67(T,T,T)",0.0000(T),0.225,0.366870,4.56,2.12,0.528000,0.334000,-0.128000,0.171000,0.009000,0.001000,3.8577
splice_acceptor_variant,C14orf105,protein_coding,NM_018168.3:c.394A>G,,HIGH,COSM3754015(1),0.685104,0.9613,rs1152522,,,,,C14orf105:0.17(6);,chr14,57948380,57948380,T,C,hom,"splice_acceptor_variant(HIGH|||c.394A>G|296|C14orf105|protein_coding|CODING|NM_018168.3|4|1),splice_region_variant(LOW|||c.394A>G|336|C14orf105|protein_coding|CODING|NM_001283056.1|3|1),splice_region_variant(LOW|||c.394A>G|295|C14orf105|protein_coding|CODING|NM_001283057.1|3|1),splice_region_variant(LOW|||c.130A>G|207|C14orf105|protein_coding|CODING|NM_001283058.1|3|1),splice_region_variant(LOW|||c.130A>G|207|C14orf105|protein_coding|CODING|NM_001283059.1|3|1),splice_region_variant(LOW|||c.160A>G|144|C14orf105|protein_coding|CODING|NM_001283060.1|3|1),intron_variant(MODIFIER|||c.394-5A>G|336|C14orf105|protein_coding|CODING|NM_001283056.1|3|1),intron_variant(MODIFIER|||c.394-5A>G|295|C14orf105|protein_coding|CODING|NM_001283057.1|3|1),intron_variant(MODIFIER|||c.130-5A>G|207|C14orf105|protein_coding|CODING|NM_001283058.1|3|1),intron_variant(MODIFIER|||c.130-5A>G|207|C14orf105|protein_coding|CODING|NM_001283059.1|3|1),intron_variant(MODIFIER|||c.160-5A>G|144|C14orf105|protein_coding|CODING|NM_001283060.1|3|1),intron_variant(MODIFIER|||c.394-2A>G|296|C14orf105|protein_coding|CODING|NM_018168.3|3|1)",,,,,0.8875,0.7622,0.7465,0.60,0.31,0.74,,,0.000(P),,,.,0.087862,5.09,2.75,0.529000,0.805000,0.278000,0.134000,0.996000,0.847000,5.9187
missense_variant,C14orf105,MISSENSE,NM_001283058.1:p.Lys13Ile/c.38A>T,aAa/aTa,MODERATE,,0.908746,1,rs1203338,,,,,,chr14,57957664,57957664,T,A,hom,"missense_variant(MODERATE|MISSENSE|aAa/aTa|p.Lys13Ile/c.38A>T|207|C14orf105|protein_coding|CODING|NM_001283058.1|2|1),missense_variant(MODERATE|MISSENSE|aAa/aTa|p.Lys13Ile/c.38A>T|207|C14orf105|protein_coding|CODING|NM_001283059.1|2|1),intron_variant(MODIFIER|||c.306+43A>T|336|C14orf105|protein_coding|CODING|NM_001283056.1|2|1),intron_variant(MODIFIER|||c.306+43A>T|295|C14orf105|protein_coding|CODING|NM_001283057.1|2|1),intron_variant(MODIFIER|||c.72+43A>T|144|C14orf105|protein_coding|CODING|NM_001283060.1|2|1),intron_variant(MODIFIER|||c.306+43A>T|296|C14orf105|protein_coding|CODING|NM_018168.3|2|1)","HMEC:H3K27me3,HSMM:H3K27me3",,,,1,0.9712,0.997,0.91,0.73,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ARID4A,SILENT,NM_002892.3:p.Thr14Thr/c.42C>T,acC/acT,LOW,COSM1370224(2),0.0459265,0.005,rs45562837,,,,,,chr14,58768333,58768333,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr14Thr/c.42C>T|1257|ARID4A|protein_coding|CODING|NM_002892.3|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr14Thr/c.42C>T|1203|ARID4A|protein_coding|CODING|NM_023000.2|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr14Thr/c.42C>T|1188|ARID4A|protein_coding|CODING|NM_023001.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1063,0.0461,0.0825,0.06,0.02,0.07,,,,,,,,,,,,,,,,
missense_variant,ARID4A,MISSENSE,NM_002892.3:p.Thr779Ala/c.2335A>G,Aca/Gca,MODERATE,,0.349441,0.5169,rs1051858,0.73(T),"0.001,0.0,0.0(B,B,B)",-0.55(N),-0.9271(T),,chr14,58831142,58831142,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr779Ala/c.2335A>G|1257|ARID4A|protein_coding|CODING|NM_002892.3|20|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr779Ala/c.2335A>G|1203|ARID4A|protein_coding|CODING|NM_023000.2|20|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr779Ala/c.2335A>G|1188|ARID4A|protein_coding|CODING|NM_023001.2|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2802,0.2291,0.34,0.33,0.34,0.33,,0.174991(N),1.000(P),"2.59,2.58,2.58,2.58,2.56(T,T,T,T,T)",0.0000(T),0.17,-0.779318,5.46,1.52,-0.128000,-0.195000,-0.111000,0.872000,0.007000,0.001000,2.1538
synonymous_variant,KIAA0586,SILENT,NM_001244189.1:p.Ser426Ser/c.1278G>A,tcG/tcA,LOW,,0.997404,1,rs1748971,,,,,,chr14,58917454,58917454,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser426Ser/c.1278G>A|1644|KIAA0586|protein_coding|CODING|NM_001244189.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser358Ser/c.1074G>A|1533|KIAA0586|protein_coding|CODING|NM_001244190.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser288Ser/c.864G>A|1463|KIAA0586|protein_coding|CODING|NM_001244191.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser329Ser/c.987G>A|1504|KIAA0586|protein_coding|CODING|NM_001244192.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser233Ser/c.699G>A|1347|KIAA0586|protein_coding|CODING|NM_001244193.1|5|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser373Ser/c.1119G>A|1472|KIAA0586|protein_coding|CODING|NM_014749.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,KIAA0586,MISSENSE,NM_001244189.1:p.Leu896Pro/c.2687T>C,cTt/cCt,MODERATE,,0.968251,0.9841,rs1748986,0.22(T),"0.001,0.002,0.0,0.001(B,B,B,B)",0.06(N),-0.9522(T),,chr14,58937416,58937416,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu896Pro/c.2687T>C|1644|KIAA0586|protein_coding|CODING|NM_001244189.1|19|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu828Pro/c.2483T>C|1533|KIAA0586|protein_coding|CODING|NM_001244190.1|18|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu758Pro/c.2273T>C|1463|KIAA0586|protein_coding|CODING|NM_001244191.1|17|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu799Pro/c.2396T>C|1504|KIAA0586|protein_coding|CODING|NM_001244192.1|18|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu703Pro/c.2108T>C|1347|KIAA0586|protein_coding|CODING|NM_001244193.1|14|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu767Pro/c.2300T>C|1472|KIAA0586|protein_coding|CODING|NM_014749.3|16|1)","HUVEC:H3K36me3,HepG2:H3K36me3",,,,1,0.987,0.999,0.98,0.93,1.00,,0.505629(N),1.000(P),"0.85,0.85,0.85,0.85(T,T,T,T)",0.0000(T),0.064,-0.526854,5.24,2.02,0.477000,0.195000,-0.133000,0.272000,0.035000,0.000000,7.8916
missense_variant,KIAA0586,MISSENSE,NM_001244189.1:p.Pro1109Ala/c.3325C>G,Cct/Gct,MODERATE,,0.974042,0.999,rs1617510,0.9(T),"0.0,0.002,0.0,0.001,0.001(B,B,B,B,B)",-0.76(N),-0.9444(T),,chr14,58953746,58953746,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1109Ala/c.3325C>G|1644|KIAA0586|protein_coding|CODING|NM_001244189.1|24|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1041Ala/c.3121C>G|1533|KIAA0586|protein_coding|CODING|NM_001244190.1|23|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro971Ala/c.2911C>G|1463|KIAA0586|protein_coding|CODING|NM_001244191.1|22|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1012Ala/c.3034C>G|1504|KIAA0586|protein_coding|CODING|NM_001244192.1|23|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro916Ala/c.2746C>G|1347|KIAA0586|protein_coding|CODING|NM_001244193.1|19|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro980Ala/c.2938C>G|1472|KIAA0586|protein_coding|CODING|NM_014749.3|21|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9957,0.999,0.98,0.93,1.00,,0.006718(N),1.000(P),"1.11,1.11,1.11,1.11(T,T,T,T)",0.0000(T),0.071,-1.708641,5.33,2.23,-0.127000,0.335000,0.393000,0.174000,0.930000,0.441000,11.2248
missense_variant,KIAA0586,MISSENSE,NM_001244189.1:p.Leu1568Pro/c.4703T>C,cTg/cCg,MODERATE,COSM4148145(1),0.453075,0.3889,rs28535751,0(D),0.0(B),,-0.9182(T),,chr14,59010649,59010649,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1568Pro/c.4703T>C|1644|KIAA0586|protein_coding|CODING|NM_001244189.1|33|1),intron_variant(MODIFIER|||c.4450+3795T>C|1533|KIAA0586|protein_coding|CODING|NM_001244190.1|31|1),intron_variant(MODIFIER|||c.4240+3795T>C|1463|KIAA0586|protein_coding|CODING|NM_001244191.1|30|1),intron_variant(MODIFIER|||c.4363+3795T>C|1504|KIAA0586|protein_coding|CODING|NM_001244192.1|31|1),intron_variant(MODIFIER|||c.4267+3795T>C|1472|KIAA0586|protein_coding|CODING|NM_014749.3|29|1)","HSMM:H3K36me3,HepG2:H3K36me3",,,,0.4693,0.3573,0.33,,,,,,1.000(P),0.66(T),0.0000(T),0.065,-1.706980,0.235,-0.47,-1.909000,-1.898000,-1.832000,0.000000,0.000000,0.000000,.
synonymous_variant,DACT1,SILENT,NM_016651.5:p.Leu90Leu/c.268C>T,Ctg/Ttg,LOW,COSM3749277(3),0.560703,0.4246,rs2003021,,,,,,chr14,59105188,59105188,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu90Leu/c.268C>T|799|DACT1|protein_coding|CODING|NM_001079520.1|1|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu90Leu/c.268C>T|836|DACT1|protein_coding|CODING|NM_016651.5|1|1),upstream_gene_variant(MODIFIER||367|||DACT1||CODING|NR_046095.1||1),intron_variant(MODIFIER|||n.119-2266C>T||DACT1||CODING|NR_046093.1|1|1)","K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HSMM:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HepG2:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5368,0.5576,0.5378,0.58,0.67,0.54,,,,,,,,,,,,,,,,
missense_variant,DACT1,MISSENSE,NM_016651.5:p.Ala464Val/c.1391C>T,gCt/gTt,MODERATE,,0.269569,0.2738,rs17832998,0.31(T),"0.006,0.02(B,B)",0.715(N),-0.9692(T),,chr14,59112732,59112732,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala464Val/c.1391C>T|836|DACT1|protein_coding|CODING|NM_016651.5|4|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala427Val/c.1280C>T|799|DACT1|protein_coding|CODING|NM_001079520.1|4|1),non_coding_exon_variant(MODIFIER|||n.1053C>T||DACT1||CODING|NR_046093.1|4|1),non_coding_exon_variant(MODIFIER|||n.1361C>T||DACT1||CODING|NR_046095.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.3078,0.1902,0.3161,0.30,0.26,0.32,,0.228059(N),1.000(P),"0.79,0.79,0.79,0.79,0.79(T,T,T,T,T)",0.0000(T),0.061,0.606015,5.35,2.42,0.563000,0.206000,0.062000,0.418000,0.000000,0.000000,8.5845
missense_variant,CCDC175,MISSENSE,NM_001164399.1:p.Gly507Glu/c.1520G>A,gGa/gAa,MODERATE,,0.531749,0.8165,rs4261431,1(T),,-0.895(N),-0.9660(T),,chr14,60004844,60004844,C,T,hom,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly507Glu/c.1520G>A|793|CCDC175|protein_coding|CODING|NM_001164399.1|13|1),HUVEC:H3K27me3,,,,0.5573,0.4827,0.5646,0.51,0.34,0.58,,0.812168(N),1.000(P),,0.0000(T),0.093,-1.508651,4.94,2.43,-0.361000,0.081000,-0.265000,0.000000,0.000000,0.000000,4.4497
synonymous_variant,CCDC175,SILENT,NM_001164399.1:p.Thr24Thr/c.72T>C,acT/acC,LOW,COSM4148149(1),0.935304,1,rs4898996,,,,,,chr14,60043422,60043422,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr24Thr/c.72T>C|793|CCDC175|protein_coding|CODING|NM_001164399.1|1|1),"NHEK:CTCF,CD4:H3K9me1,CD4:H2AZ,HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,IMR90:H3K4me2,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HMEC:CTCF,H1ESC:Yy1,NHEK:H3K27me3,NH-A:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,NHEK:H3K4me2,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.9796,0.9553,0.9254,0.90,0.85,0.92,,,,,,,,,,,,,,,,
synonymous_variant,RTN1,SILENT,NM_021136.2:p.His774His/c.2322T>C,caT/caC,LOW,,0.979433,1,rs6573275,,,,,,chr14,60063472,60063472,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His774His/c.2322T>C|776|RTN1|protein_coding|CODING|NM_021136.2|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His206His/c.618T>C|208|RTN1|protein_coding|CODING|NM_206852.2|7|1)","HUVEC:H3K27me3,NHEK:H3K27me3",,,,1,0.9971,0.999,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PCNXL4,SILENT,NM_022495.5:p.Pro113Pro/c.339G>A,ccG/ccA,LOW,COSM3931951(1),0.692292,0.7232,rs219314,,,,,,chr14,60581863,60581863,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro113Pro/c.339G>A|938|PCNXL4|protein_coding|CODING|NM_022495.5|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6759,0.8775,0.9016,0.78,0.51,0.90,,,,,,,,,,,,,,,,
synonymous_variant,PCNXL4,SILENT,NM_022495.5:p.Ser137Ser/c.411C>T,agC/agT,LOW,,0.810503,0.8938,rs150687,,,,,,chr14,60581935,60581935,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser137Ser/c.411C>T|938|PCNXL4|protein_coding|CODING|NM_022495.5|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7106,0.8948,0.9026,0.86,0.75,0.90,,,,,,,,,,,,,,,,
missense_variant,PCNXL4,MISSENSE,NM_022495.5:p.Val177Ile/c.529G>A,Gta/Ata,MODERATE,,0.651358,0.6548,rs150688,0.28(T),"0.002,0.001(B,B)",0.455(N),-1.0572(T),,chr14,60582053,60582053,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val177Ile/c.529G>A|938|PCNXL4|protein_coding|CODING|NM_022495.5|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6145,0.8588,0.8817,0.74,0.46,0.87,,,0.006(P),"1.59,1.6,1.57,1.6(T,T,T,T)",0.0000(T),0.049,1.336114,5.81,0.159,-0.467000,-0.248000,2.271000,0.640000,0.251000,1.000000,7.3424
missense_variant,PCNXL4,MISSENSE,NM_022495.5:p.Lys321Glu/c.961A>G,Aaa/Gaa,MODERATE,COSM3754026(1),0.341054,0.3462,rs308998,0.41(T),"0.011,0.01(B,B)",2.42(M),-0.9555(T),,chr14,60585131,60585131,A,G,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys321Glu/c.961A>G|938|PCNXL4|protein_coding|CODING|NM_022495.5|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.1398,0.1183,0.25,0.49,0.13,,,0.000(P),"1.74,1.74,1.64,1.74(T,T,T,T)",0.0000(T),0.251,3.374655,6.07,4.93,-0.280000,1.116000,5.726000,0.989000,0.996000,1.000000,12.334
synonymous_variant,PCNXL4,SILENT,NM_022495.5:p.Phe746Phe/c.2238T>C,ttT/ttC,LOW,COSM3754029(1),0.326478,0.2946,rs308990,,,,,,chr14,60591829,60591829,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe746Phe/c.2238T>C|938|PCNXL4|protein_coding|CODING|NM_022495.5|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3701,0.1369,0.1153,0.25,0.50,0.13,,,,,,,,,,,,,,,,
missense_variant,PCNXL4,MISSENSE,NM_022495.5:p.Gly766Ser/c.2296G>A,Ggt/Agt,MODERATE,COSM3754031(2),0.348842,0.3472,rs167437,0.82(T),"0.002,0.001(B,B)",-0.895(N),-0.9298(T),,chr14,60591887,60591887,G,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly766Ser/c.2296G>A|938|PCNXL4|protein_coding|CODING|NM_022495.5|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3845,0.1412,0.1183,0.27,0.54,0.13,,0.020923(N),0.000(P),"1.12,1.12,1.12,1.12,1.12(T,T,T,T,T)",0.0000(T),0.039,-0.052626,5.18,5.18,-0.893000,0.914000,4.470000,0.729000,0.998000,0.999000,6.5552
missense_variant,C14orf39,MISSENSE,NM_174978.2:p.Val404Ile/c.1210G>A,Gta/Ata,MODERATE,,0.904353,0.878,rs11625921,1(T),0.0(B),-1.445(N),-0.9999(T),,chr14,60923783,60923783,C,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val404Ile/c.1210G>A|587|C14orf39|protein_coding|CODING|NM_174978.2|15|1),HUVEC:H3K27me3,,,,0.7301,0.9654,0.9751,0.98,0.97,0.98,,0.787420(N),1.000(P),1.92(T),0.0000(T),0.063,-1.809372,5.32,1.81,-1.216000,0.140000,-0.238000,0.342000,0.177000,0.000000,7.2412
synonymous_variant,C14orf39,SILENT,NM_174978.2:p.Ala154Ala/c.462A>G,gcA/gcG,LOW,,0.00319489,0.001,rs35543839,,,,,,chr14,60938319,60938319,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala154Ala/c.462A>G|587|C14orf39|protein_coding|CODING|NM_174978.2|6|1),HUVEC:H3K27me3,,,,0.0072,0.0014,0.006,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,C14orf39,MISSENSE,NM_174978.2:p.Asp3Asn/c.7G>A,Gac/Aac,MODERATE,,0.000399361,0.001,rs142135991,0.02(D),0.998(D),1.78(L),-0.6230(T),,chr14,60951790,60951790,C,T,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp3Asn/c.7G>A|587|C14orf39|protein_coding|CODING|NM_174978.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0,0,0.001,0.00,0.00,0.00,,0.000159(D),0.842(D),1.16(T),0.1844(T),0.155,2.413679,5.13,4.23,-0.176000,1.280000,2.703000,0.122000,0.999000,1.000000,11.9555
missense_variant,SIX6,MISSENSE,NM_007374.2:p.His141Asn/c.421C>A,Cac/Aac,MODERATE,COSM1745015(1),0.341454,0.2133,rs33912345,0.1(T),0.002(B),-1.37(N),-0.9588(T),,chr14,60976537,60976537,C,A,het,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His141Asn/c.421C>A|246|SIX6|protein_coding|CODING|NM_007374.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4029,0.6599,0.5974,0.44,0.12,0.60,,0.000000(D),0.000(P),-3.86(D),0.0000(T),0.091,0.916682,5.38,5.38,0.462000,2.804000,3.798000,0.962000,1.000000,1.000000,14.8422
missense_variant,SIX4,MISSENSE,NM_017420.4:p.His605Pro/c.1814A>C,cAt/cCt,MODERATE,,0.645168,0.6558,rs3742636,0.11(T),0.367(B),0.55(N),-0.9027(T),,chr14,61180657,61180657,T,G,hom,missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His605Pro/c.1814A>C|781|SIX4|protein_coding|CODING|NM_017420.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6176,0.732,0.7177,0.66,0.56,0.70,,0.119417(N),0.000(P),"-2.82,0.8(D,T)",0.0000(T),0.398,1.932798,5.44,5.44,0.533000,2.071000,3.674000,0.583000,0.987000,1.000000,15.5141
missense_variant,TRMT5,MISSENSE,NM_020810.3:p.Ser217Pro/c.649T>C,Tct/Cct,MODERATE,,1,1,rs7142228,1(T),0.0(B),-2.78(N),-0.9572(T),,chr14,61445967,61445967,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser217Pro/c.649T>C|509|TRMT5|protein_coding|CODING|NM_020810.3|2|1),upstream_gene_variant(MODIFIER||1865||521|SLC38A6|protein_coding|CODING|NM_001172702.1||1),upstream_gene_variant(MODIFIER||1865||456|SLC38A6|protein_coding|CODING|NM_153811.2||1),upstream_gene_variant(MODIFIER||1998|||SLC38A6||CODING|NR_033344.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K4me2",,,,1,1,1,,,,,0.000000(N),0.999(P),2.14(T),0.0000(T),0.19,0.652301,4.84,4.84,-0.119000,1.259000,5.214000,0.876000,0.983000,1.000000,13.4407
missense_variant,SLC38A6,MISSENSE,NM_001172702.1:p.Leu70Met/c.208T>A,Ttg/Atg,MODERATE,,0.84365,0.7659,rs976272,,,-2.05(N),-1.0198(T),,chr14,61449328,61449328,T,A,hom,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu70Met/c.208T>A|521|SLC38A6|protein_coding|CODING|NM_001172702.1|2|1),missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu70Met/c.208T>A|456|SLC38A6|protein_coding|CODING|NM_153811.2|2|1),upstream_gene_variant(MODIFIER||1531||509|TRMT5|protein_coding|CODING|NM_020810.3||1),non_coding_exon_variant(MODIFIER|||n.548T>A||SLC38A6||CODING|NR_033344.1|2|1)","K562:H3K4me3,K562:H3K27ac,HUVEC:H3K4me3,K562:H3K36me3,IMR90:H3K4me2,HMEC:H3K4me2,IMR90:H3K36me3,HUVEC:H3K4me2,HUVEC:H3K4me1,HepG2:H3K27me3,K562:H3K4me2",,,,0.729,0.8602,0.9791,0.95,0.87,0.98,,,1.000(P),,0.0000(T),.,0.058231,5.63,4.48,-0.257000,0.496000,6.802000,0.577000,1.000000,1.000000,8.0815
synonymous_variant,SLC38A6,SILENT,NM_001172702.1:p.Gly228Gly/c.684T>C,ggT/ggC,LOW,,0.842851,0.7669,rs2296921,,,,-1.0232(T),,chr14,61509924,61509924,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly228Gly/c.684T>C|521|SLC38A6|protein_coding|CODING|NM_001172702.1|9|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly228Gly/c.684T>C|456|SLC38A6|protein_coding|CODING|NM_153811.2|9|1),non_coding_exon_variant(MODIFIER|||n.1024T>C||SLC38A6||CODING|NR_033344.1|9|1)",,,,,0.729,0.8573,0.9781,0.95,0.87,0.98,,,0.002(P),,0.0000(T),.,-0.788250,5.95,4.08,-0.213000,0.376000,-0.298000,0.144000,0.209000,0.002000,10.0259
synonymous_variant,TMEM30B,SILENT,NM_001017970.2:p.Gly74Gly/c.222T>C,ggT/ggC,LOW,COSM3749279(8),0.779752,0.8591,rs3196765,,,,,,chr14,61747644,61747644,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly74Gly/c.222T>C|351|TMEM30B|protein_coding|CODING|NM_001017970.2|1|1),"NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,H1ESC:H3K36me3,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,CD4:H2BK5ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,CD4:H3K36ac,CD4:H3K4ac,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HMEC:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,CD4:H3K9ac,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF",,,,0.8119,0.7392,0.8638,0.81,0.70,0.87,,,,,,,,,,,,,,,,
synonymous_variant,PRKCH,SILENT,NM_006255.4:p.Asn558Asn/c.1674C>T,aaC/aaT,LOW,,0.669329,0.6657,rs1088680,,,,-1.0131(T),,chr14,61997226,61997226,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn558Asn/c.1674C>T|683|PRKCH|protein_coding|CODING|NM_006255.4|12|1),"HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.819,0.8573,0.8658,0.71,0.40,0.86,,,0.000(P),,0.0000(T),.,0.856267,5.63,-2.77,-1.000000,-0.376000,-2.180000,0.780000,0.917000,0.000000,14.2428
missense_variant,SYT16,MISSENSE,NM_031914.2:p.Val10Ala/c.29T>C,gTt/gCt,MODERATE,,0.792332,0.7956,rs8019076,1(T),"0.0,0.0(B,B)",0(N),-0.9728(T),,chr14,62462766,62462766,T,C,hom,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val10Ala/c.29T>C|645|SYT16|protein_coding|CODING|NM_031914.2|1|1),HUVEC:H3K27me3,,,,0.6411,0.7695,0.7386,0.80,0.92,0.74,,0.623152(N),1.000(P),"1.27,3.68(T,T)",0.0000(T),0.029,-1.043496,4.63,-0.606,-0.227000,-0.486000,-0.583000,0.950000,0.884000,0.063000,5.3652
synonymous_variant,KCNH5,SILENT,NM_139318.4:p.Arg859Arg/c.2577A>G,agA/agG,LOW,,0.924321,1,rs7161127,,,,,,chr14,63174616,63174616,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg859Arg/c.2577A>G|988|KCNH5|protein_coding|CODING|NM_139318.4|11|1),3_prime_UTR_variant(MODIFIER||544|c.*544A>G|611|KCNH5|protein_coding|CODING|NM_172375.2|10|1)",,,,,0.9816,0.9568,0.9871,0.93,0.80,0.99,,,,,,,,,,,,,,,,
missense_variant,KCNH5,MISSENSE,NM_139318.4:p.Ala745Thr/c.2233G>A,Gcc/Acc,MODERATE,COSM3754035(3),0.221246,0.1478,rs4902176,0.59(T),0.003(B),1.245(L),-0.9087(T),,chr14,63174960,63174960,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala745Thr/c.2233G>A|988|KCNH5|protein_coding|CODING|NM_139318.4|11|1),3_prime_UTR_variant(MODIFIER||200|c.*200G>A|611|KCNH5|protein_coding|CODING|NM_172375.2|10|1)",,,,,0.1483,0.2997,0.3479,0.30,0.21,0.35,,0.000000(D),0.000(P),-5.22(D),0.0000(T),0.064,-0.230279,5.52,5.52,0.655000,2.611000,3.750000,0.521000,0.997000,0.997000,19.4558
synonymous_variant,SYNE2,SILENT,NM_182914.2:p.Leu133Leu/c.399G>C,ctG/ctC,LOW,COSM147791(1),0.109026,0.0466,rs33976862,,,,,,chr14,64408852,64408852,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu133Leu/c.399G>C|6885|SYNE2|protein_coding|CODING|NM_015180.4|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu133Leu/c.399G>C|6907|SYNE2|protein_coding|CODING|NM_182914.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118536.1,,0.0378,0.1138,0.0467,0.11,0.20,0.07,,,,,,,,,,,,,,,,
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Arg1393Trp/c.4177C>T,Cgg/Tgg,MODERATE,COSM3754037(1),0.0255591,0,rs17751301,0.03(D),"0.0,0.001(B,B)",1.1(L),-1.0557(T),,chr14,64469828,64469828,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1393Trp/c.4177C>T|6885|SYNE2|protein_coding|CODING|NM_015180.4|30|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1393Trp/c.4177C>T|6907|SYNE2|protein_coding|CODING|NM_182914.2|30|1),intron_variant(MODIFIER|||n.45-50720G>A||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000118537.1,,0.0174,0.0836,0.0477,0.05,0.01,0.07,,0.006902(N),1.000(N),"0.79,0.79,0.42(T,T,T)",0.0078(T),0.152,-0.743245,5.51,-3.22,-0.907000,-0.605000,-1.053000,0.042000,0.000000,0.000000,2.7479
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Met1969Thr/c.5906T>C,aTg/aCg,MODERATE,,0.678914,0.7837,rs4902264,0.6(T),"0.0,0.001(B,B)",0.805(L),-0.9929(T),,chr14,64491695,64491695,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1969Thr/c.5906T>C|6885|SYNE2|protein_coding|CODING|NM_015180.4|40|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1969Thr/c.5906T>C|6907|SYNE2|protein_coding|CODING|NM_182914.2|40|1),intron_variant(MODIFIER|||n.45-72587A>G||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118541.1,,0.7689,0.7824,0.8757,0.74,0.44,0.87,,0.197346(N),1.000(P),"0.86,0.86,0.49(T,T,T)",0.0000(T),0.128,-0.190917,5.6,-1.29,0.455000,0.068000,0.119000,0.552000,0.024000,0.193000,3.2027
synonymous_variant,SYNE2,SILENT,NM_182914.2:p.Leu2161Leu/c.6481C>T,Cta/Tta,LOW,,0.751997,0.8333,rs10151127,,,,,,chr14,64494278,64494278,C,T,hom,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu2161Leu/c.6481C>T|6885|SYNE2|protein_coding|CODING|NM_015180.4|43|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu2161Leu/c.6481C>T|6907|SYNE2|protein_coding|CODING|NM_182914.2|43|1),intron_variant(MODIFIER|||n.45-75170G>A||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118543.1,,0.7822,0.8833,0.9056,0.81,0.56,0.92,,,,,,,,,,,,,,,,
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Ala2284Val/c.6851C>T,gCg/gTg,MODERATE,,0.671925,0.7768,rs4027402,0.68(T),"0.009,0.02(B,B)",0.895(L),-0.9967(T),,chr14,64496749,64496749,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2284Val/c.6851C>T|6885|SYNE2|protein_coding|CODING|NM_015180.4|44|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2284Val/c.6851C>T|6907|SYNE2|protein_coding|CODING|NM_182914.2|44|1),intron_variant(MODIFIER|||n.45-77641G>A||MIR548AZ||NON_CODING|NR_106755.1|2|1)","HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118544.1,,0.7393,0.7968,0.8757,0.74,0.44,0.88,,0.324642(N),1.000(P),"1.29,1.29,1.29(T,T,T)",0.0000(T),0.047,0.102367,5.15,1.21,-0.119000,0.012000,0.338000,0.292000,0.000000,0.000000,4.4853
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Ser2359Asn/c.7076G>A,aGc/aAc,MODERATE,,0.702476,0.7798,rs4027404,0.52(T),"0.005,0.012(B,B)",0.895(L),-0.9949(T),,chr14,64497930,64497930,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser2359Asn/c.7076G>A|6885|SYNE2|protein_coding|CODING|NM_015180.4|45|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser2359Asn/c.7076G>A|6907|SYNE2|protein_coding|CODING|NM_182914.2|45|1),intron_variant(MODIFIER|||n.45-78822C>T||MIR548AZ||NON_CODING|NR_106755.1|2|1)","HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118548.1,,0.7474,0.8069,0.8757,0.77,0.53,0.88,,0.050988(N),0.000(P),"0.72,0.71,0.37(T,T,T)",0.0000(T),0.02,-0.180117,4.96,3.1,0.561000,1.208000,0.982000,0.073000,0.774000,0.992000,5.694
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Ala2395Thr/c.7183G>A,Gca/Aca,MODERATE,,0.83726,0.8522,rs4027405,0.53(T),"0.005,0.01(B,B)",0(N),-0.9946(T),,chr14,64498037,64498037,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala2395Thr/c.7183G>A|6885|SYNE2|protein_coding|CODING|NM_015180.4|45|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala2395Thr/c.7183G>A|6907|SYNE2|protein_coding|CODING|NM_182914.2|45|1),intron_variant(MODIFIER|||n.45-78929C>T||MIR548AZ||NON_CODING|NR_106755.1|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118551.1,,0.8149,0.9035,0.9056,0.88,0.78,0.92,,0.055584(N),1.000(P),"0.7,0.7,0.42(T,T,T)",0.0000(T),0.038,1.132685,5.08,3.21,0.561000,1.265000,1.817000,0.977000,0.005000,0.006000,7.078
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Ser2802Gly/c.8404A>G,Agt/Ggt,MODERATE,,0.861821,0.8532,rs1890908,0.53(T),"0.018,0.04(B,B)",0.55(N),-1.0270(T),,chr14,64519035,64519035,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser2802Gly/c.8404A>G|6885|SYNE2|protein_coding|CODING|NM_015180.4|48|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser2802Gly/c.8404A>G|6907|SYNE2|protein_coding|CODING|NM_182914.2|48|1),intron_variant(MODIFIER|||n.45-99927T>C||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000118553.1,,0.7873,0.9164,0.9125,0.91,0.87,0.93,,0.035364(N),1.000(P),"1.32,1.32,1.32(T,T,T)",0.0000(T),0.046,0.008660,5.26,-6.91,-2.166000,-1.825000,-1.609000,0.516000,0.000000,0.000000,8.6923
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Ile2942Val/c.8824A>G,Ata/Gta,MODERATE,,0.665136,0.7778,rs3829767,0.3(T),"0.002,0.005(B,B)",0.805(L),-0.9562(T),,chr14,64519455,64519455,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile2942Val/c.8824A>G|6885|SYNE2|protein_coding|CODING|NM_015180.4|48|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile2942Val/c.8824A>G|6907|SYNE2|protein_coding|CODING|NM_182914.2|48|1),intron_variant(MODIFIER|||n.45-100347T>C||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,RCV000118556.1,,0.7485,0.7882,0.8628,0.72,0.41,0.86,,0.616686(N),0.999(P),"0.38,0.39,0.0(T,T,T)",0.0000(T),0.043,-0.603679,5.24,-7.86,0.260000,-1.044000,-0.842000,0.168000,0.044000,0.007000,0.4805
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Asp3253His/c.9757G>C,Gat/Cat,MODERATE,,0.68131,0.7778,rs8010911,0.15(T),"0.259,0.445(B,B)",0.895(L),-1.0788(T),,chr14,64522674,64522674,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp3253His/c.9757G>C|6885|SYNE2|protein_coding|CODING|NM_015180.4|49|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp3253His/c.9757G>C|6907|SYNE2|protein_coding|CODING|NM_182914.2|49|1),intron_variant(MODIFIER|||n.45-103566C>G||MIR548AZ||NON_CODING|NR_106755.1|2|1)","HMEC:H3K36me3,NHEK:H3K36me3",,RCV000118560.1,,0.7485,0.7954,0.8638,0.74,0.47,0.86,,0.267314(N),0.000(P),"1.22,1.22,1.22(T,T,T)",0.0000(T),0.145,1.963708,5.63,2.85,-0.657000,0.343000,2.762000,0.778000,0.340000,1.000000,9.566
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.His3309Arg/c.9926A>G,cAc/cGc,MODERATE,,0.682308,0.7778,rs8010699,0.35(T),"0.019,0.043(B,B)",0(N),-1.0486(T),,chr14,64522843,64522843,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His3309Arg/c.9926A>G|6885|SYNE2|protein_coding|CODING|NM_015180.4|49|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His3309Arg/c.9926A>G|6907|SYNE2|protein_coding|CODING|NM_182914.2|49|1),intron_variant(MODIFIER|||n.45-103735T>C||MIR548AZ||NON_CODING|NR_106755.1|2|1)","HMEC:H3K36me3,NHEK:H3K36me3",,RCV000118561.1,,0.7485,0.7968,0.8638,0.74,0.48,0.86,,0.043051(N),0.993(P),"1.4,1.4,1.4(T,T,T)",0.0000(T),0.052,-0.145706,5.79,3.4,0.402000,0.440000,1.102000,0.163000,0.041000,0.038000,7.5132
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Glu4913Lys/c.14737G>A,Gaa/Aaa,MODERATE,COSM3754038(1),0.019369,0,rs12881815,0.18(T),"0.316,0.336,0.275(B,B,B)",1.5(L),-1.1550(T),,chr14,64604595,64604595,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu4913Lys/c.14737G>A|6885|SYNE2|protein_coding|CODING|NM_015180.4|79|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu4913Lys/c.14737G>A|6907|SYNE2|protein_coding|CODING|NM_182914.2|79|1),intron_variant(MODIFIER|||n.44+98029C>T||MIR548AZ||NON_CODING|NR_106755.1|2|1)","K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,GM12878:CTCF,CD4:H3K36me3,K562:H3K27me3,K562:Rad21,NHEK:H3K36me3,GM12878:Rad21,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21",,RCV000118516.2,,0.0092,0.0706,0.0368,0.04,0.01,0.05,,0.001044(N),1.000(D),"1.32,1.32,1.32,1.32,1.32,1.32(T,T,T,T,T,T)",0.0163(T),0.64,2.364134,5.87,4.98,0.655000,1.480000,3.579000,0.993000,0.107000,0.947000,10.5361
synonymous_variant,SYNE2,SILENT,NM_182914.2:p.Ile5181Ile/c.15543C>T,atC/atT,LOW,COSM1128227(1),0.441893,0.504,rs11629287,,,,,,chr14,64612845,64612845,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile5181Ile/c.15543C>T|6885|SYNE2|protein_coding|CODING|NM_015180.4|84|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile5181Ile/c.15543C>T|6907|SYNE2|protein_coding|CODING|NM_182914.2|84|1),intron_variant(MODIFIER|||n.44+89779G>A||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118519.1,,0.3303,0.3977,0.3469,0.41,0.54,0.34,,,,,,,,,,,,,,,,
missense_variant,SYNE2,MISSENSE,NM_182914.2:p.Leu5186Met/c.15556C>A,Ctg/Atg,MODERATE,COSM1128226(1),0.631789,0.6429,rs10151658,0.53(T),"0.01,0.017,0.01,0.012(B,B,B,B)",-0.035(N),-1.0086(T),,chr14,64612858,64612858,C,A,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu5186Met/c.15556C>A|6885|SYNE2|protein_coding|CODING|NM_015180.4|84|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu5186Met/c.15556C>A|6907|SYNE2|protein_coding|CODING|NM_182914.2|84|1),intron_variant(MODIFIER|||n.44+89766G>T||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118520.1,,0.501,0.513,0.4553,0.58,0.85,0.44,,0.326332(N),0.000(P),"0.71,0.71,0.71,0.71,3.78,0.71(T,T,T,T,T,T)",0.0000(T),0.112,-0.360858,5.63,-2.1,-1.140000,-1.072000,-0.595000,0.324000,0.953000,0.060000,12.0809
synonymous_variant,SYNE2,SILENT,NM_182914.2:p.Leu5734Leu/c.17202C>A,ctC/ctA,LOW,,0.365815,0.5526,rs7161192,,,,,,chr14,64637147,64637147,C,A,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu5734Leu/c.17202C>A|6885|SYNE2|protein_coding|CODING|NM_015180.4|94|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu5734Leu/c.17202C>A|6907|SYNE2|protein_coding|CODING|NM_182914.2|94|1),intron_variant(MODIFIER|||n.44+65477G>T||MIR548AZ||NON_CODING|NR_106755.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,GM12878:SP1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,RCV000118525.1,,0.274,0.3055,0.335,0.34,0.37,0.33,,,,,,,,,,,,,,,,
missense_variant,MTHFD1,MISSENSE,NM_005956.3:p.Lys134Arg/c.401A>G,aAa/aGa,MODERATE,COSM1180585(1),0.823482,0.6448,rs1950902,0.76(T),"0.009,0.017(B,B)",,-1.0045(T),,chr14,64882380,64882380,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys134Arg/c.401A>G|935|MTHFD1|protein_coding|CODING|NM_005956.3|6|1),intron_variant(MODIFIER|||n.33+45027T>C||MIR548AZ||NON_CODING|NR_106755.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9223,0.9107,0.7962,0.83,0.85,0.82,,0.000000(D),0.000(P),"0.48,0.48,0.48,0.48(T,T,T,T)",0.0000(T),0.39,1.841279,5.06,5.06,0.374000,2.032000,8.820000,0.556000,1.000000,1.000000,15.1283
missense_variant,MTHFD1,MISSENSE,NM_005956.3:p.Arg653Gln/c.1958G>A,cGg/cAg,MODERATE,COSM3999329(3),0.341853,0.1984,rs2236225,0.15(T),"0.026,0.016(B,B)",1.02(L),-0.9094(T),,chr14,64908845,64908845,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg653Gln/c.1958G>A|935|MTHFD1|protein_coding|CODING|NM_005956.3|20|1),intron_variant(MODIFIER|||n.33+18562C>T||MIR548AZ||NON_CODING|NR_106755.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000014603.1,,0.5041,0.5447,0.4294,0.37,0.21,0.46,,0.000000(D),0.000(P),"1.98,1.98,1.98(T,T,T)",0.0000(T),0.398,2.667518,5.87,4.97,0.655000,2.941000,5.247000,0.197000,1.000000,1.000000,5.9329
missense_variant,AKAP5,MISSENSE,NM_004857.3:p.Thr203Ile/c.608C>T,aCa/aTa,MODERATE,,0.983826,0.9365,rs1256149,0.43(T),0.0(B),-0.805(N),-0.9918(T),,chr14,64935720,64935720,C,T,hom,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr203Ile/c.608C>T|427|AKAP5|protein_coding|CODING|NM_004857.3|2|1),,,,,0.9826,1,1,1.00,1.00,1.00,,0.184776(N),1.000(P),"1.99,1.99(T,T)",0.0000(T),0.024,-0.089134,6.02,-7.35,-1.007000,-1.436000,-0.285000,0.097000,0.000000,0.000000,10.6229
synonymous_variant,ZBTB1,SILENT,NM_001123329.1:p.Glu19Glu/c.57A>G,gaA/gaG,LOW,,0.162141,0.2083,rs28626711,,,,,,chr14,64988279,64988279,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu19Glu/c.57A>G|644|ZBTB1|protein_coding|CODING|NM_014950.2|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu19Glu/c.57A>G|713|ZBTB1|protein_coding|CODING|NM_001123329.1|2|1),intron_variant(MODIFIER|||n.149-3023T>C||LOC102723809||NON_CODING|NR_110550.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.1254,0.2326,0.17,0.08,0.22,,,,,,,,,,,,,,,,
missense_variant,ZBTB1,MISSENSE,NM_001123329.1:p.Thr203Asn/c.608C>A,aCt/aAt,MODERATE,COSM3754041(1),0.0553115,0,rs45512391,0.1(T),"0.001,0.0(B,B)",-0.695(N),-0.9901(T),,chr14,64988830,64988830,C,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr203Asn/c.608C>A|644|ZBTB1|protein_coding|CODING|NM_014950.2|2|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr203Asn/c.608C>A|713|ZBTB1|protein_coding|CODING|NM_001123329.1|2|1),intron_variant(MODIFIER|||n.149-3574G>T||LOC102723809||NON_CODING|NR_110550.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0358,0.2334,0.0746,0.07,0.02,0.10,,0.020169(N),0.990(P),"2.92,3.5,2.92(T,T,T)",0.0000(T),0.029,0.253166,6.17,4.24,0.655000,2.941000,2.179000,0.999000,1.000000,0.964000,8.1138
synonymous_variant,ZBTB1,SILENT,NM_001123329.1:p.His234His/c.702T>C,caT/caC,LOW,COSM1717712(1),0.162141,0.2083,rs10133411,,,,,,chr14,64988924,64988924,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His234His/c.702T>C|644|ZBTB1|protein_coding|CODING|NM_014950.2|2|1),synonymous_variant(LOW|SILENT|caT/caC|p.His234His/c.702T>C|713|ZBTB1|protein_coding|CODING|NM_001123329.1|2|1),intron_variant(MODIFIER|||n.149-3668A>G||LOC102723809||NON_CODING|NR_110550.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.1254,0.2326,0.17,0.08,0.22,,,,,,,,,,,,,,,,
synonymous_variant,HSPA2,SILENT,NM_021979.3:p.Asp228Asp/c.684C>T,gaC/gaT,LOW,,0.652556,0.8601,rs1063391,,,,,,chr14,65008251,65008251,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp228Asp/c.684C>T|639|HSPA2|protein_coding|CODING|NM_021979.3|1|1),upstream_gene_variant(MODIFIER||1165|||LOC102723809||NON_CODING|NR_110550.1||1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,HUVEC:CTCF,NH-A:H3K27me3,CD4:H3K79me3,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HSMM:H3K27me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.7249,0.696,0.6819,0.60,0.44,0.68,,,,,,,,,,,,,,,,
missense_variant,PPP1R36,MISSENSE,NM_172365.1:p.Thr83Ile/c.248C>T,aCt/aTt,MODERATE,,0.617812,0.6597,rs6573560,0.63(T),0.0(B),-0.805(N),-0.9559(T),,chr14,65031534,65031534,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr83Ile/c.248C>T|422|PPP1R36|protein_coding|CODING|NM_172365.1|4|1),,,,,0.5695,0.6095,0.493,0.57,0.69,0.51,,0.880906(N),1.000(P),1.28(T),0.0000(T),0.021,-1.511987,5.9,-4.04,-0.360000,-0.715000,-1.585000,0.199000,0.043000,0.006000,1.7676
synonymous_variant,PLEKHG3,SILENT,NM_015549.1:p.Lys187Lys/c.561G>A,aaG/aaA,LOW,COSM4148176(1),0.123602,0.0308,rs229624,,,,,,chr14,65197767,65197767,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys187Lys/c.561G>A|1163|PLEKHG3|protein_coding|CODING|NM_015549.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1984,0.0965,0.1849,0.17,0.12,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHG3,SILENT,NM_015549.1:p.Ser541Ser/c.1623T>C,tcT/tcC,LOW,COSM4148177(1),0.230431,0.0367,rs229650,,,,,,chr14,65208026,65208026,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser541Ser/c.1623T>C|1163|PLEKHG3|protein_coding|CODING|NM_015549.1|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.274,0.1499,0.2147,0.28,0.37,0.23,,,,,,,,,,,,,,,,
missense_variant,PLEKHG3,MISSENSE,NM_015549.1:p.Arg980Trp/c.2938C>T,Cgg/Tgg,MODERATE,,0.0830671,0.002,rs229649,0.03(D),"0.95,0.971,0.956,0.98(D,D,D,D)",2.125(M),-0.9501(T),,chr14,65209867,65209867,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg980Trp/c.2938C>T|1163|PLEKHG3|protein_coding|CODING|NM_015549.1|15|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0798,0.0634,0.0805,0.11,0.14,0.09,,0.033482(N),1.000(P),"0.31,-0.14,1.19,1.2(T,T,T,T)",0.0038(T),0.364,2.373988,5.66,3.81,0.655000,0.711000,0.092000,0.043000,0.034000,0.001000,12.9469
synonymous_variant,SPTB,SILENT,NM_001024858.2:p.Ala2297Ala/c.6891G>A,gcG/gcA,LOW,,0.104433,0.0317,rs57421986,,,,,,chr14,65216120,65216120,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2297Ala/c.6891G>A|2328|SPTB|protein_coding|CODING|NM_001024858.2|35|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0706,0.0346,0.0775,0.11,0.22,0.06,,,,,,,,,,,,,,,,
synonymous_variant,SPTB,SILENT,NM_001024858.2:p.Ala1547Ala/c.4641G>A,gcG/gcA,LOW,COSM3754043(2),0.412141,0.3671,rs184528,,,,,,chr14,65242044,65242044,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1547Ala/c.4641G>A|2137|SPTB|protein_coding|CODING|NM_000347.5|22|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1547Ala/c.4641G>A|2328|SPTB|protein_coding|CODING|NM_001024858.2|22|1)","K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3088,0.2493,0.1938,0.35,0.68,0.18,,,,,,,,,,,,,,,,
synonymous_variant,SPTB,SILENT,NM_001024858.2:p.Ile718Ile/c.2154A>C,atA/atC,LOW,COSM4148181(1),0.45028,0.2004,rs229591,,,,,,chr14,65260227,65260227,T,G,het,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile718Ile/c.2154A>C|2137|SPTB|protein_coding|CODING|NM_000347.5|13|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile718Ile/c.2154A>C|2328|SPTB|protein_coding|CODING|NM_001024858.2|13|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5174,0.3372,0.3588,0.46,0.64,0.37,,,,,,,,,,,,,,,,
missense_variant,SPTB,MISSENSE,NM_001024858.2:p.Ser439Asn/c.1316G>A,aGt/aAt,MODERATE,,0.466853,0.3532,rs229587,0.5(T),"0.019,0.007(B,B)",1.47(L),-0.9401(T),,chr14,65263300,65263300,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser439Asn/c.1316G>A|2137|SPTB|protein_coding|CODING|NM_000347.5|10|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser439Asn/c.1316G>A|2328|SPTB|protein_coding|CODING|NM_001024858.2|10|1)","HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4939,0.3429,0.3439,0.44,0.63,0.33,,0.001739(N),1.000(P),"0.76,0.76,0.76,0.76,0.76(T,T,T,T,T)",0.0000(T),0.031,1.256188,5.81,0.765,-0.982000,-0.081000,0.269000,0.933000,0.989000,0.003000,10.3943
synonymous_variant,SPTB,SILENT,NM_001024858.2:p.Leu423Leu/c.1269G>A,ctG/ctA,LOW,,0.28135,0.2907,rs229586,,,,,,chr14,65263347,65263347,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu423Leu/c.1269G>A|2137|SPTB|protein_coding|CODING|NM_000347.5|10|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu423Leu/c.1269G>A|2328|SPTB|protein_coding|CODING|NM_001024858.2|10|1)","HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3824,0.232,0.2266,0.25,0.27,0.24,,,,,,,,,,,,,,,,
synonymous_variant,SPTB,SILENT,NM_001024858.2:p.Thr59Thr/c.177C>T,acC/acT,LOW,COSM3999336(1),0.0680911,0.1815,rs2277503,,,,,,chr14,65271780,65271780,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr59Thr/c.177C>T|2137|SPTB|protein_coding|CODING|NM_000347.5|2|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr59Thr/c.177C>T|2328|SPTB|protein_coding|CODING|NM_001024858.2|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,HepG2:H3K27me3",,,,0.0654,0.0303,0.0358,0.04,0.04,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FUT8,SILENT,NM_178155.2:p.Gln55Gln/c.165A>G,caA/caG,LOW,,0.756789,0.9048,rs2229677,,,,,,chr14,66028446,66028446,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln55Gln/c.165A>G|575|FUT8|protein_coding|CODING|NM_178155.2|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln55Gln/c.165A>G|575|FUT8|protein_coding|CODING|NM_178156.2|2|1),intron_variant(MODIFIER|||c.-286-54250A>G|412|FUT8|protein_coding|CODING|NM_004480.4|2|1),non_coding_exon_variant(MODIFIER|||n.1892A>G||FUT8||CODING|NR_038167.1|3|1),non_coding_exon_variant(MODIFIER|||n.975A>G||FUT8||CODING|NR_038170.1|3|1)","NH-A:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.7873,0.6729,0.6352,0.70,0.73,0.68,,,,,,,,,,,,,,,,
missense_variant,PLEKHH1,MISSENSE,NM_020715.2:p.Thr430Ala/c.1288A>G,Aca/Gca,MODERATE,COSM433270(2),0.211661,0.1468,rs3825725,0.3(T),0.004(B),1.61(L),-0.9787(T),,chr14,68035879,68035879,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr430Ala/c.1288A>G|1364|PLEKHH1|protein_coding|CODING|NM_020715.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K27me3",,,,0.2342,0.2896,0.2903,0.24,0.16,0.28,,0.001187(N),0.000(P),2.0(T),0.0000(T),0.018,1.939829,4.45,3.23,0.459000,1.845000,3.886000,0.767000,0.855000,0.999000,9.8029
missense_variant,PLEKHH1,MISSENSE,NM_020715.2:p.His735Arg/c.2204A>G,cAc/cGc,MODERATE,COSM3999347(1),0.478634,0.4603,rs11158685,1(T),0.0(B),-1.575(N),-0.9211(T),,chr14,68042574,68042574,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His735Arg/c.2204A>G|1364|PLEKHH1|protein_coding|CODING|NM_020715.2|16|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.5378,0.5648,0.496,0.46,0.37,0.50,,0.317559(N),1.000(P),2.02(T),0.0000(T),0.009,-1.664876,4.96,-2.53,-0.729000,-0.977000,-0.176000,0.376000,0.002000,0.000000,15.2132
synonymous_variant,PLEKHH1,SILENT,NM_020715.2:p.Ser978Ser/c.2934G>A,tcG/tcA,LOW,,0.646965,0.503,rs6573781,,,,,,chr14,68045935,68045935,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser978Ser/c.2934G>A|1364|PLEKHH1|protein_coding|CODING|NM_020715.2|21|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6431,0.7579,0.7982,0.75,0.65,0.79,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHH1,SILENT,NM_020715.2:p.Ala1315Ala/c.3945T>C,gcT/gcC,LOW,COSM3754056(2),0.555312,0.6617,rs734028,1(T),0.003(B),,-0.9294(T),,chr14,68053802,68053802,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1315Ala/c.3945T>C|1364|PLEKHH1|protein_coding|CODING|NM_020715.2|29|1),"H1ESC:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7219,0.6614,0.673,0.55,0.31,0.67,,,0.000(P),,0.0000(T),.,2.551989,5.53,-8.85,0.528000,-1.411000,-0.101000,0.977000,0.390000,0.893000,1.8549
missense_variant,ZFYVE26,MISSENSE,NM_015346.3:p.Asn1891Ser/c.5672A>G,aAt/aGt,MODERATE,,0.903155,0.8562,rs3742883,1(T),0.001(B),,-1.0008(T),,chr14,68234539,68234539,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn1891Ser/c.5672A>G|2539|ZFYVE26|protein_coding|CODING|NM_015346.3|31|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118901.2,,0.9806,0.8905,0.9861,0.94,0.86,0.99,,0.333252(N),1.000(P),"1.94,1.8(T,T)",0.0000(T),0.008,-2.399982,5.63,-2.67,-0.974000,-0.809000,-0.394000,0.012000,0.000000,0.001000,7.608
synonymous_variant,ZFYVE26,SILENT,NM_015346.3:p.Pro704Pro/c.2112T>C,ccT/ccC,LOW,,0.771166,0.9722,rs12891164,,,,,,chr14,68264867,68264867,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro704Pro/c.2112T>C|2539|ZFYVE26|protein_coding|CODING|NM_015346.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7894,0.7695,0.6223,0.66,0.68,0.64,,,,,,,,,,,,,,,,
missense_variant,EXD2,MISSENSE,NM_001193360.1:p.Gln518His/c.1554G>T,caG/caT,MODERATE,,0.804313,0.9345,rs8007859,0.25(T),"0.001,0.0,0.0(B,B,B)",0.145(N),-0.9848(T),,chr14,69704553,69704553,G,T,hom,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln518His/c.1554G>T|621|EXD2|protein_coding|CODING|NM_001193360.1|9|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln518His/c.1554G>T|621|EXD2|protein_coding|CODING|NM_001193361.1|8|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln518His/c.1554G>T|621|EXD2|protein_coding|CODING|NM_001193362.1|9|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln518His/c.1554G>T|621|EXD2|protein_coding|CODING|NM_001193363.1|8|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln393His/c.1179G>T|496|EXD2|protein_coding|CODING|NM_018199.3|7|1),non_coding_exon_variant(MODIFIER|||n.1890G>T||EXD2||CODING|NR_034164.1|10|1),non_coding_exon_variant(MODIFIER|||n.2049G>T||EXD2||CODING|NR_034165.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8436,0.7839,0.5944,0.69,0.83,0.61,,0.874820(N),1.000(P),"0.35,-0.06,-0.06,-0.06,-0.06,0.35,-0.06(T,T,T,T,T,T,T)",0.0000(T),0.047,0.697921,5.51,-2.07,-1.398000,-0.528000,0.027000,0.627000,0.026000,0.003000,10.9385
missense_variant,PLEKHD1,MISSENSE,NM_001161498.1:p.Gly88Cys/c.262G>T,Ggc/Tgc,MODERATE,,,,,,1.0(D),2.455(M),0.3085(D),,chr14,69967312,69967312,G,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly88Cys/c.262G>T|506|PLEKHD1|protein_coding|CODING|NM_001161498.1|3|1),"HUVEC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(D),-1.02(T),0.6340(D),0.869,3.904128,5.08,5.08,0.561000,2.375000,8.667000,0.675000,1.000000,1.000000,17.2593
synonymous_variant,SMOC1,SILENT,NM_001034852.2:p.Gln42Gln/c.126G>A,caG/caA,LOW,,0.217053,0.375,rs3742909,,,,,,chr14,70418881,70418881,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln42Gln/c.126G>A|435|SMOC1|protein_coding|CODING|NM_001034852.2|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln42Gln/c.126G>A|434|SMOC1|protein_coding|CODING|NM_022137.5|2|1)","GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.18,0.3718,0.2634,0.19,0.06,0.25,,,,,,,,,,,,,,,,
synonymous_variant,SLC8A3,SILENT,NM_183002.2:p.Arg351Arg/c.1053T>C,cgT/cgC,LOW,,0.992812,1,rs2114024,,,,,,chr14,70634087,70634087,A,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg351Arg/c.1053T>C|925|SLC8A3|protein_coding|CODING|NM_033262.4|2|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg351Arg/c.1053T>C|924|SLC8A3|protein_coding|CODING|NM_058240.3|2|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg351Arg/c.1053T>C|921|SLC8A3|protein_coding|CODING|NM_182932.2|2|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg351Arg/c.1053T>C|927|SLC8A3|protein_coding|CODING|NM_183002.2|2|1),non_coding_exon_variant(MODIFIER|||n.1807T>C||SLC8A3||CODING|NR_104122.1|2|1)","NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,0.999,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC8A3,SILENT,NM_183002.2:p.Lys198Lys/c.594G>A,aaG/aaA,LOW,,0.142372,0.0089,rs7161524,,,,,,chr14,70634546,70634546,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys198Lys/c.594G>A|925|SLC8A3|protein_coding|CODING|NM_033262.4|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys198Lys/c.594G>A|924|SLC8A3|protein_coding|CODING|NM_058240.3|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys198Lys/c.594G>A|921|SLC8A3|protein_coding|CODING|NM_182932.2|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys198Lys/c.594G>A|927|SLC8A3|protein_coding|CODING|NM_183002.2|2|1),non_coding_exon_variant(MODIFIER|||n.1348G>A||SLC8A3||CODING|NR_104122.1|2|1)","NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1544,0.1124,0.2068,0.19,0.19,0.19,,,,,,,,,,,,,,,,
synonymous_variant,SLC8A3,SILENT,NM_183002.2:p.Thr113Thr/c.339A>G,acA/acG,LOW,COSM3754068(1),0.0732827,0.0486,rs17765575,,,,,,chr14,70634801,70634801,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr113Thr/c.339A>G|925|SLC8A3|protein_coding|CODING|NM_033262.4|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr113Thr/c.339A>G|924|SLC8A3|protein_coding|CODING|NM_058240.3|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr113Thr/c.339A>G|921|SLC8A3|protein_coding|CODING|NM_182932.2|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr113Thr/c.339A>G|927|SLC8A3|protein_coding|CODING|NM_183002.2|2|1),non_coding_exon_variant(MODIFIER|||n.1093A>G||SLC8A3||CODING|NR_104122.1|2|1)","NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0389,0.0865,0.1581,0.13,0.06,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Leu7Leu/c.21C>A,ctC/ctA,LOW,COSM3999351(2),0.374601,0.3452,rs3751520,,,,,,chr14,70924237,70924237,C,A,het,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu7Leu/c.21C>A|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),NHEK:H3K27me3,,,,0.4274,0.3386,0.328,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Arg11Arg/c.33A>G,agA/agG,LOW,COSM3999354(1),0.648363,0.8671,rs3751521,,,,,,chr14,70924249,70924249,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg11Arg/c.33A>G|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),NHEK:H3K27me3,,,,0.592,0.4856,0.4573,0.37,0.59,0.26,,,,,,,,,,,,,,,,
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Leu82Leu/c.246A>G,ttA/ttG,LOW,COSM3999356(1),,,rs3751523,,,,,,chr14,70924462,70924462,A,G,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu82Leu/c.246A>G|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,0.81,0.65,0.89,,,,,,,,,,,,,,,,
missense_variant,ADAM21,MISSENSE,NM_003813.3:p.Asp95Glu/c.285C>G,gaC/gaG,MODERATE,,,,rs8010994,0.29(T),0.001(B),0.015(N),-1.0566(T),,chr14,70924501,70924501,C,G,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp95Glu/c.285C>G|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.634479(N),1.000(P),3.32(T),0.0000(T),0.041,-0.900230,3.55,-0.972,-0.224000,-0.253000,-1.971000,0.005000,0.059000,0.000000,0.8168
missense_variant,ADAM21,MISSENSE,NM_003813.3:p.Ala117Gly/c.350C>G,gCa/gGa,MODERATE,COSM3754073(1),0.370208,0.5734,rs3829452,1(T),0.0(B),-3.32(N),-0.9328(T),,chr14,70924566,70924566,C,G,het,missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala117Gly/c.350C>G|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2556,0.2161,0.2207,,,,,0.013758(N),1.000(P),3.84(T),0.0000(T),0.113,-2.913798,3.76,2.86,-0.234000,0.922000,2.053000,0.010000,0.013000,0.987000,12.0431
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Ala117Ala/c.351A>T,gcA/gcT,LOW,COSM3754074(1),0.370208,0.5734,rs3829453,,,,,,chr14,70924567,70924567,A,T,het,synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala117Ala/c.351A>T|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2556,0.2161,0.2207,0.08,0.16,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Tyr159Tyr/c.477T>C,taT/taC,LOW,COSM147809(3),0.255791,0.505,rs45480894,,,,,,chr14,70924693,70924693,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr159Tyr/c.477T>C|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1534,0.1326,0.1203,0.01,0.02,0.00,,,,,,,,,,,,,,,,
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Lys160Lys/c.480G>A,aaG/aaA,LOW,COSM4148215(2),0.250399,0.496,rs77892318,,,,,,chr14,70924696,70924696,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys160Lys/c.480G>A|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1493,0.1297,0.1173,,,,,,,,,,,,,,,,,,,
missense_variant,ADAM21,MISSENSE,NM_003813.3:p.Ile161Val/c.481A>G,Ata/Gta,MODERATE,COSM147811(4),0.250399,0.496,rs45545935,0.3(T),0.002(B),1.265(L),-0.9055(T),,chr14,70924697,70924697,A,G,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile161Val/c.481A>G|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1493,0.1297,0.1173,,,,,0.383910(U),1.000(N),5.31(T),0.0027(T),0.102,-0.791263,3.76,-5.66,0.455000,-0.597000,-1.436000,0.459000,0.025000,0.000000,0.3958
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Leu212Leu/c.636A>C,ctA/ctC,LOW,COSM3999357(3),0.440695,0.3512,rs3829455,,,,,,chr14,70924852,70924852,A,C,het,synonymous_variant(LOW|SILENT|ctA/ctC|p.Leu212Leu/c.636A>C|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.4193,0.4394,0.36,0.36,0.36,,,,,,,,,,,,,,,,
missense_variant,ADAM21,MISSENSE,NM_003813.3:p.Lys247Gln/c.739A>C,Aag/Cag,MODERATE,COSM4148216(1),0.275759,0.5218,rs114864695,0.68(T),0.01(B),0.275(N),-0.9328(T),,chr14,70924955,70924955,A,C,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys247Gln/c.739A>C|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1646,0.147,0.1292,,,,,0.816565(N),1.000(P),-0.09(T),0.0000(T),0.049,-2.595304,3.86,-1.13,-1.611000,-0.012000,-0.543000,0.155000,0.354000,0.000000,8.183
synonymous_variant,ADAM21,SILENT,NM_003813.3:p.Leu347Leu/c.1041A>G,ttA/ttG,LOW,,,,rs12436346,,,,,,chr14,70925257,70925257,A,G,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu347Leu/c.1041A>G|722|ADAM21|protein_coding|CODING|NM_003813.3|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,0.97,0.93,0.99,,,,,,,,,,,,,,,,
missense_variant,TTC9,MISSENSE,NM_015351.1:p.Pro103Ala/c.307C>G,Ccg/Gcg,MODERATE,COSM433314(2),0.841653,0.8442,rs4902834,0.35(T),0.0(B),-0.205(N),-1.0066(T),,chr14,71109153,71109153,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro103Ala/c.307C>G|222|TTC9|protein_coding|CODING|NM_015351.1|1|1),upstream_gene_variant(MODIFIER||1138|||LOC101928075||NON_CODING|NR_110071.1||1)","HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.7515,0.8991,0.8042,0.87,0.90,0.86,,0.104239(N),1.000(P),2.2(T),0.0000(T),0.048,-1.206605,4.29,-7.15,-2.636000,-2.181000,0.182000,0.011000,0.071000,0.110000,0.7147
synonymous_variant,MAP3K9,SILENT,NM_033141.3:p.Asn892Asn/c.2676C>T,aaC/aaT,LOW,,0.251797,0.3363,rs3829955,,,,,,chr14,71199452,71199452,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn878Asn/c.2634C>T|1104|MAP3K9|protein_coding|CODING|NM_001284230.1|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn654Asn/c.1962C>T|880|MAP3K9|protein_coding|CODING|NM_001284231.1|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn611Asn/c.1833C>T|837|MAP3K9|protein_coding|CODING|NM_001284232.1|10|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn892Asn/c.2676C>T|1118|MAP3K9|protein_coding|CODING|NM_033141.3|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2106,0.2983,0.2217,0.22,0.23,0.21,,,,,,,,,,,,,,,,
synonymous_variant,MAP3K9,SILENT,NM_033141.3:p.Ser611Ser/c.1833G>A,tcG/tcA,LOW,COSM4148218(1),0.216454,0.3363,rs386443020,,,,,,chr14,71204973,71204973,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser611Ser/c.1833G>A|1104|MAP3K9|protein_coding|CODING|NM_001284230.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser396Ser/c.1188G>A|880|MAP3K9|protein_coding|CODING|NM_001284231.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser353Ser/c.1059G>A|837|MAP3K9|protein_coding|CODING|NM_001284232.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser611Ser/c.1833G>A|1118|MAP3K9|protein_coding|CODING|NM_033141.3|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1953,0.2565,0.167,0.16,0.16,0.16,,,,,,,,,,,,,,,,
synonymous_variant,PCNX,SILENT,NM_014982.2:p.Leu45Leu/c.135G>A,ctG/ctA,LOW,COSM433318(6),0.582268,0.3859,rs2526882,,,,,,chr14,71374702,71374702,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu45Leu/c.135G>A|2341|PCNX|protein_coding|CODING|NM_014982.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7474,0.5735,0.6412,0.63,0.59,0.65,,,,,,,,,,,,,,,,
synonymous_variant,PCNX,SILENT,NM_014982.2:p.Arg578Arg/c.1734G>A,agG/agA,LOW,COSM433319(2),0.40635,0.6131,rs3814871,,,,,,chr14,71444788,71444788,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg578Arg/c.1734G>A|2341|PCNX|protein_coding|CODING|NM_014982.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2474,0.4164,0.3539,0.36,0.38,0.35,,,,,,,,,,,,,,,,
synonymous_variant,SIPA1L1,SILENT,NM_015556.2:p.Ser293Ser/c.879A>C,tcA/tcC,LOW,,0.883387,0.9355,rs1859643,,,,,,chr14,72055468,72055468,A,C,het,"synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser293Ser/c.879A>C|1783|SIPA1L1|protein_coding|CODING|NM_001284245.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser293Ser/c.879A>C|1782|SIPA1L1|protein_coding|CODING|NM_001284246.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser293Ser/c.879A>C|1803|SIPA1L1|protein_coding|CODING|NM_001284247.1|1|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser293Ser/c.879A>C|1804|SIPA1L1|protein_coding|CODING|NM_015556.2|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8742,0.8473,0.7614,0.81,0.92,0.75,,,,,,,,,,,,,,,,
synonymous_variant,SIPA1L1,SILENT,NM_015556.2:p.Phe641Phe/c.1923T>C,ttT/ttC,LOW,,0.957468,1,rs8017465,,,,,,chr14,72117156,72117156,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe641Phe/c.1923T>C|1783|SIPA1L1|protein_coding|CODING|NM_001284245.1|5|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe641Phe/c.1923T>C|1782|SIPA1L1|protein_coding|CODING|NM_001284246.1|5|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe641Phe/c.1923T>C|1803|SIPA1L1|protein_coding|CODING|NM_001284247.1|4|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe641Phe/c.1923T>C|1804|SIPA1L1|protein_coding|CODING|NM_015556.2|5|1)","GM12878:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,GM06990:H3K36me3",,,,0.9703,0.9236,0.8787,0.91,0.97,0.87,,,,,,,,,,,,,,,,
synonymous_variant,DPF3,SILENT,NM_001280544.1:p.Leu140Leu/c.418T>C,Ttg/Ctg,LOW,,0.223243,0.2907,rs3742836,,,,,,chr14,73220020,73220020,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu85Leu/c.253T>C|378|DPF3|protein_coding|CODING|NM_001280542.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu95Leu/c.283T>C|367|DPF3|protein_coding|CODING|NM_001280543.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu140Leu/c.418T>C|412|DPF3|protein_coding|CODING|NM_001280544.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu85Leu/c.253T>C|357|DPF3|protein_coding|CODING|NM_012074.4|3|1)","GM12878:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.3016,0.2205,0.2744,0.23,0.11,0.28,,,,,,,,,,,,,,,,
missense_variant,DPF3,MISSENSE,NM_001280544.1:p.Phe36Cys/c.107T>G,tTc/tGc,MODERATE,,0.942692,0.999,rs11158986,,,,,,chr14,73358945,73358945,A,C,hom,"missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe36Cys/c.107T>G|412|DPF3|protein_coding|CODING|NM_001280544.1|1|1),intron_variant(MODIFIER|||c.32+1820T>G|378|DPF3|protein_coding|CODING|NM_001280542.1|1|1),intron_variant(MODIFIER|||c.32+1820T>G|357|DPF3|protein_coding|CODING|NM_012074.4|1|1),intron_variant(MODIFIER|||c.-83+1820T>G|367|DPF3|protein_coding|CODING|NM_001280543.1|1|1)","CD4:H3K9me1,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,NHEK:H3K27me3,NHEK:H3K4me2,CD4:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9601,0.9683,0.9602,,,,,,,,,,,,,,,,,,,
missense_variant,PAPLN,MISSENSE,NM_173462.3:p.Ser33Gly/c.97A>G,Agc/Ggc,MODERATE,COSM3754087(1),0.238019,0.4236,rs2280792,0.81(T),"0.0,0.0,0.0(B,B,B)",0.03(N),-0.9508(T),,chr14,73711394,73711394,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser33Gly/c.97A>G|1251|PAPLN|protein_coding|CODING|NM_173462.3|3|1),"H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1871,0.2824,0.1243,0.15,0.20,0.12,,,0.980(P),"2.17,2.17,2.17,2.17,2.17(T,T,T,T,T)",0.0000(T),0.19,2.883704,5.1,5.1,-0.215000,1.407000,3.379000,0.885000,0.995000,1.000000,11.9223
synonymous_variant,PAPLN,SILENT,NM_173462.3:p.Thr139Thr/c.417G>A,acG/acA,LOW,,0.335264,0.1458,rs177393,,,,,,chr14,73716774,73716774,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr139Thr/c.417G>A|1251|PAPLN|protein_coding|CODING|NM_173462.3|6|1),"H1ESC:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4274,0.2925,0.3042,0.36,0.43,0.32,,,,,,,,,,,,,,,,
missense_variant,PAPLN,MISSENSE,NM_173462.3:p.Met666Thr/c.1997T>C,aTg/aCg,MODERATE,,0.0644968,0.001,rs177389,,,,,,chr14,73727509,73727509,T,"C,G",,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met666Thr/c.1997T>C|1251|PAPLN|protein_coding|CODING|NM_173462.3|16|1),missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met666Arg/c.1997T>G|1251|PAPLN|protein_coding|CODING|NM_173462.3|16|2)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.044,0.036,0.0328,,,,,,,,,,,,,,,,,,,
missense_variant,PAPLN,MISSENSE,NM_173462.3:p.Gly869Arg/c.2605G>A,Gga/Aga,MODERATE,,0.0251597,0.001,rs177386,0.6(T),"0.003,0.001,0.003,0.001(B,B,B,B)",0.145(N),-1.0613(T),,chr14,73729498,73729498,G,A,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly869Arg/c.2605G>A|1251|PAPLN|protein_coding|CODING|NM_173462.3|18|1),"H1ESC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0307,0.0187,0.0169,0.03,0.04,0.02,,,1.000(N),"0.14,0.14,0.43,0.14,0.29(T,T,T,T,T)",0.0137(T),0.335,-0.891841,4.6,-3.04,-0.254000,-0.383000,-0.648000,0.004000,0.000000,0.000000,6.1439
missense_variant,C14orf169,MISSENSE,NM_024644.4:p.Lys17Arg/c.50A>G,aAg/aGg,MODERATE,,,,rs10144469,,,,,,chr14,73957772,73957772,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys17Arg/c.50A>G|640|C14orf169|protein_coding|CODING|NM_024644.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.2844+1998T>C|1026|HEATR4|protein_coding|CODING|NM_001220484.1|17|1),intron_variant(MODIFIER|||c.2844+1998T>C|1026|HEATR4|protein_coding|CODING|NM_203309.2|16|1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,K562:HEY1,CD4:H3K9ac,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,,,,0.76,0.85,0.72,,,,,,,,,,,,,,,,
missense_variant,C14orf169,MISSENSE,NM_024644.4:p.Phe218Ser/c.653T>C,tTt/tCt,MODERATE,,0.804113,0.8363,rs758109,,,,,,chr14,73958375,73958375,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe218Ser/c.653T>C|640|C14orf169|protein_coding|CODING|NM_024644.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.2844+1395A>G|1026|HEATR4|protein_coding|CODING|NM_001220484.1|17|1),intron_variant(MODIFIER|||c.2844+1395A>G|1026|HEATR4|protein_coding|CODING|NM_203309.2|16|1)","K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,CD4:H2BK5me1,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.7342,0.8228,0.7247,0.79,0.88,0.75,,,,,,,,,,,,,,,,
synonymous_variant,ACOT4,SILENT,NM_152331.3:p.Ile292Ile/c.876T>C,atT/atC,LOW,,0.861821,0.9296,rs2010070,,,,,,chr14,74061968,74061968,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile292Ile/c.876T>C|421|ACOT4|protein_coding|CODING|NM_152331.3|3|1),,,,,0.7669,0.8501,0.7276,0.80,0.95,0.72,,,,,,,,,,,,,,,,
missense_variant,ELMSAN1,MISSENSE,NM_001043318.2:p.Ser925Gly/c.2773A>G,Agt/Ggt,MODERATE,COSM3754097(1),0.0816693,0,rs60635070,0.35(T),"0.0,0.0(B,B)",1.1(L),-0.9656(T),,chr14,74188164,74188164,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser925Gly/c.2773A>G|1045|ELMSAN1|protein_coding|CODING|NM_001043318.2|11|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser925Gly/c.2773A>G|1045|ELMSAN1|protein_coding|CODING|NM_194278.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0634,0.0199,0.08,0.20,0.02,,0.045549(N),0.989(P),"1.55,1.55,1.55,1.55(T,T,T,T)",0.0000(T),0.108,2.180464,4.88,1.2,0.454000,-0.030000,0.141000,0.958000,0.998000,0.996000,7.0186
synonymous_variant,ELMSAN1,SILENT,NM_001043318.2:p.Ile619Ile/c.1857C>T,atC/atT,LOW,COSM3754098(1),0.120008,0.0942,rs11847050,,,,,,chr14,74196581,74196581,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile619Ile/c.1857C>T|1045|ELMSAN1|protein_coding|CODING|NM_001043318.2|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile619Ile/c.1857C>T|1045|ELMSAN1|protein_coding|CODING|NM_194278.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0603,0.0965,0.0686,0.10,0.19,0.06,,,,,,,,,,,,,,,,
synonymous_variant,ELMSAN1,SILENT,NM_001043318.2:p.Val77Val/c.231A>G,gtA/gtG,LOW,COSM4148235(1),0.86242,0.9325,rs758774,,,,,,chr14,74206481,74206481,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val77Val/c.231A>G|1045|ELMSAN1|protein_coding|CODING|NM_001043318.2|2|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val77Val/c.231A>G|1045|ELMSAN1|protein_coding|CODING|NM_194278.3|2|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7699,0.8213,0.7654,0.82,0.94,0.77,,,,,,,,,,,,,,,,
missense_variant,CCDC176,MISSENSE,NM_025057.2:p.Arg58Gln/c.173G>A,cGg/cAg,MODERATE,COSM147815(1),0.202276,0.5585,rs3784039,0.3(T),0.009(B),1.52(L),-0.9532(T),,chr14,74489735,74489735,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg58Gln/c.173G>A|529|CCDC176|protein_coding|CODING|NM_025057.2|2|1),,,,,0.1452,0.0965,0.1541,0.12,0.08,0.14,,0.032781(N),0.000(P),2.22(T),0.0000(T),0.046,2.290199,4.7,0.654,0.585000,-0.054000,1.714000,0.950000,0.989000,0.845000,4.5346
missense_variant,CCDC176,MISSENSE,NM_025057.2:p.Asp230Val/c.689A>T,gAt/gTt,MODERATE,COSM3754106(1),0.631789,0.8829,rs3784038,0.33(T),0.0(B),-2.28(N),-0.9767(T),,chr14,74514674,74514674,A,T,hom,missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp230Val/c.689A>T|529|CCDC176|protein_coding|CODING|NM_025057.2|7|1),,,,,0.7249,0.5274,0.4751,0.50,0.56,0.48,,0.035682(N),0.000(P),"1.47,1.47(T,T)",0.0000(T),0.11,2.830233,5.78,5.78,-0.265000,1.018000,2.691000,0.832000,0.998000,1.000000,12.1639
synonymous_variant,VSX2,SILENT,NM_182894.2:p.Ser157Ser/c.471C>T,tcC/tcT,LOW,,0.259984,0.0754,rs35435463,,,,,,chr14,74711883,74711883,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser157Ser/c.471C>T|361|VSX2|protein_coding|CODING|NM_182894.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3037,0.4755,0.5129,0.39,0.13,0.52,,,,,,,,,,,,,,,,
missense_variant,ABCD4,MISSENSE,NM_005050.3:p.Arg579Gln/c.1736G>A,cGg/cAg,MODERATE,,0.00239617,0,rs143288344,,,1.975(M),0.7764(D),,chr14,74753420,74753420,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg579Gln/c.1736G>A|606|ABCD4|protein_coding|CODING|NM_005050.3|18|1),non_coding_exon_variant(MODIFIER|||n.1760G>A||ABCD4||CODING|NR_003256.2|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.008,0.00,0.00,0.00,,,1.000(D),,0.9878(D),.,5.708411,4.94,4.94,0.585000,2.577000,7.448000,0.975000,0.872000,1.000000,18.353
synonymous_variant,VRTN,SILENT,NM_018228.2:p.Lys293Lys/c.879A>G,aaA/aaG,LOW,COSM3999376(1),0.0469249,0.0397,rs17099563,,,,,,chr14,74824365,74824365,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys293Lys/c.879A>G|702|VRTN|protein_coding|CODING|NM_018228.2|2|1),"H1ESC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0429,0.1052,0.0368,0.04,0.04,0.04,,,,,,,,,,,,,,,,
synonymous_variant,SYNDIG1L,SILENT,NM_001105579.1:p.Thr89Thr/c.267A>C,acA/acC,LOW,,0.460663,0.4454,rs12590672,,,,,,chr14,74876181,74876181,T,G,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr89Thr/c.267A>C|238|SYNDIG1L|protein_coding|CODING|NM_001105579.1|2|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.454,0.4222,0.494,0.49,0.46,0.50,,,,,,,,,,,,,,,,
synonymous_variant,LTBP2,SILENT,NM_000428.2:p.Thr834Thr/c.2502T>C,acT/acC,LOW,,0.728235,0.7361,rs386617818,,,,,,chr14,74991855,74991855,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr834Thr/c.2502T>C|1821|LTBP2|protein_coding|CODING|NM_000428.2|15|1),"GM06990:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7045,0.6744,0.6471,0.71,0.81,0.66,,,,,,,,,,,,,,,,
synonymous_variant,LTBP2,SILENT,NM_000428.2:p.Thr802Thr/c.2406T>C,acT/acC,LOW,COSM1178433(1),0.378794,0.3294,rs699374,,,,,,chr14,74992800,74992800,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr802Thr/c.2406T>C|1821|LTBP2|protein_coding|CODING|NM_000428.2|14|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2843,0.4107,0.2843,0.35,0.49,0.28,,,,,,,,,,,,,,,,
synonymous_variant,LTBP2,SILENT,NM_000428.2:p.Leu429Leu/c.1287G>A,ctG/ctA,LOW,,0.0704872,0.0952,rs61738025,,,,,,chr14,75019002,75019002,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu429Leu/c.1287G>A|1821|LTBP2|protein_coding|CODING|NM_000428.2|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.047,0.0634,0.0457,0.07,0.09,0.06,,,,,,,,,,,,,,,,
missense_variant,LTBP2,MISSENSE,NM_000428.2:p.Pro319Gln/c.956C>A,cCa/cAa,MODERATE,COSM3999377(1),0.0876597,0.0952,rs2304707,0.02(D),0.216(B),1.245(L),-1.0964(T),,chr14,75022271,75022271,G,T,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro319Gln/c.956C>A|1821|LTBP2|protein_coding|CODING|NM_000428.2|4|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.047,0.0648,0.0457,0.09,0.16,0.05,,0.766760(U),1.000(P),"-1.07,-1.08(T,T)",0.0013(T),0.296,0.312852,5.07,-0.0393,0.556000,0.118000,0.649000,0.017000,0.005000,0.192000,4.3485
synonymous_variant,DLST,SILENT,NM_001933.4:p.Gln192Gln/c.576G>A,caG/caA,LOW,COSM1371111(1),0.665935,0.4196,rs2230237,,,,,,chr14,75359670,75359670,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln192Gln/c.576G>A|453|DLST|protein_coding|CODING|NM_001933.4|8|1),downstream_gene_variant(MODIFIER||1076||166|DLST|protein_coding|CODING|NM_001244883.1||1),non_coding_exon_variant(MODIFIER|||n.581G>A||DLST||CODING|NR_033814.1|7|1),non_coding_exon_variant(MODIFIER|||n.590G>A||DLST||CODING|NR_045209.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7014,0.5749,0.5308,0.65,0.90,0.53,,,,,,,,,,,,,,,,
synonymous_variant,DLST,SILENT,NM_001933.4:p.Gly366Gly/c.1098C>T,ggC/ggT,LOW,,0.284145,0.2202,rs20578,,,,,,chr14,75367807,75367807,C,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly366Gly/c.1098C>T|453|DLST|protein_coding|CODING|NM_001933.4|14|1),non_coding_exon_variant(MODIFIER|||n.1103C>T||DLST||CODING|NR_033814.1|13|1),non_coding_exon_variant(MODIFIER|||n.1112C>T||DLST||CODING|NR_045209.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.2349,0.2962,0.32,0.34,0.31,,,,,,,,,,,,,,,,
synonymous_variant,MLH3,SILENT,NM_001040108.1:p.Gln1445Gln/c.4335A>G,caA/caG,LOW,,0.580072,0.8393,rs13712,,,,-1.0191(T),,chr14,75483812,75483812,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1445Gln/c.4335A>G|1453|MLH3|protein_coding|CODING|NM_001040108.1|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln1421Gln/c.4263A>G|1429|MLH3|protein_coding|CODING|NM_014381.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5194,0.6657,0.5388,0.50,0.45,0.53,,,1.000(P),,0.0000(T),.,-0.096500,5.06,-2.02,-0.938000,-0.539000,-0.843000,0.133000,0.000000,0.000000,5.3591
missense_variant,MLH3,MISSENSE,NM_001040108.1:p.Pro844Leu/c.2531C>T,cCt/cTt,MODERATE,COSM3754113(1),0.363818,0.1508,rs175080,0.31(T),"0.009,0.001(B,B)",1.245(L),-0.9794(T),,chr14,75513828,75513828,G,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro844Leu/c.2531C>T|1453|MLH3|protein_coding|CODING|NM_001040108.1|2|1),missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro844Leu/c.2531C>T|1429|MLH3|protein_coding|CODING|NM_014381.2|2|1)","H1ESC:H3K36me3,IMR90:DNase1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4356,0.3199,0.4563,0.44,0.40,0.46,,0.115835(N),1.000(P),"-1.43,-1.44,-1.49,-1.43(T,T,T,T)",0.0000(T),0.101,-0.175301,5.93,4.12,0.655000,0.856000,1.590000,0.377000,0.205000,0.017000,7.4116
missense_variant,MLH3,MISSENSE,NM_001040108.1:p.Asn826Asp/c.2476A>G,Aac/Gac,MODERATE,,0.990415,1,rs175081,0.85(T),"0.0,0.0(B,B)",0(N),-0.9689(T),,chr14,75513883,75513883,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn826Asp/c.2476A>G|1453|MLH3|protein_coding|CODING|NM_001040108.1|2|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn826Asp/c.2476A>G|1429|MLH3|protein_coding|CODING|NM_014381.2|2|1)","H1ESC:H3K36me3,IMR90:DNase1,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9928,1,0.99,0.97,1.00,,0.344857(N),1.000(P),"-1.3,-1.3,-1.35,-1.3(T,T,T,T)",0.0000(T),0.01,-0.930026,5.2,1.33,-1.059000,-0.121000,0.343000,0.027000,0.003000,0.000000,3.7164
synonymous_variant,ZC2HC1C,SILENT,NM_024643.3:p.Tyr35Tyr/c.105C>T,taC/taT,LOW,COSM1371159(2),0.349241,0.6468,rs11546525,,,,,,chr14,75537381,75537381,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr35Tyr/c.105C>T|275|ZC2HC1C|protein_coding|CODING|NM_001042430.2|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr35Tyr/c.105C>T|456|ZC2HC1C|protein_coding|CODING|NM_024643.3|2|1),intron_variant(MODIFIER|||n.173+929C>T||ZC2HC1C||CODING|NR_110315.1|1|1)","HepG2:H3K4me2,K562:PolII,K562:H3K27ac,K562:H3K9ac,HepG2:DNase1,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.3221,0.4236,0.4513,0.31,0.10,0.42,,,,,,,,,,,,,,,,
missense_variant,ZC2HC1C,MISSENSE,NM_024643.3:p.Gly314Val/c.941G>T,gGt/gTt,MODERATE,,0.522764,0.8373,rs3742778,,0.003(B),0.345(N),-1.0133(T),,chr14,75538217,75538217,G,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly314Val/c.941G>T|456|ZC2HC1C|protein_coding|CODING|NM_024643.3|2|1),intron_variant(MODIFIER|||n.173+1765G>T||ZC2HC1C||CODING|NR_110315.1|1|1),intron_variant(MODIFIER|||c.823+118G>T|275|ZC2HC1C|protein_coding|CODING|NM_001042430.2|2|1)",,,,,0.4714,0.6196,0.503,0.43,0.31,0.48,,0.020983(N),0.683(P),0.91(T),0.0000(T),0.05,-0.132958,4.58,3.66,0.655000,1.231000,2.393000,0.108000,0.697000,0.072000,8.4532
missense_variant,NEK9,MISSENSE,NM_033116.4:p.Arg429His/c.1286G>A,cGt/cAt,MODERATE,,0.523562,0.8373,rs10146482,0.27(T),0.002(B),0.895(L),-0.9284(T),,chr14,75574087,75574087,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg429His/c.1286G>A|979|NEK9|protein_coding|CODING|NM_033116.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4683,0.621,0.502,0.43,0.32,0.49,,0.010877(N),1.000(P),-1.92(D),0.0000(T),0.026,0.765105,5.3,-1.48,-0.254000,-0.411000,0.457000,0.849000,0.213000,0.059000,12.492
synonymous_variant,NEK9,SILENT,NM_033116.4:p.His108His/c.324C>T,caC/caT,LOW,,0.498602,0.8373,rs8017642,,,,,,chr14,75590822,75590822,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His108His/c.324C>T|979|NEK9|protein_coding|CODING|NM_033116.4|2|1),"CD4:DNase1,IMR90:DNase1,CD4:H3K27ac,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,K562:Cjun,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HMEC:DNase1,K562:SP1,NHEK:DNase1,K562:DNase1",,,,0.4703,0.611,0.504,0.40,0.24,0.49,,,,,,,,,,,,,,,,
synonymous_variant,NEK9,SILENT,NM_033116.4:p.Ile100Ile/c.300T>A,atT/atA,LOW,COSM3754116(1),0.427915,0.1528,rs175449,,,,,,chr14,75590846,75590846,A,T,het,synonymous_variant(LOW|SILENT|atT/atA|p.Ile100Ile/c.300T>A|979|NEK9|protein_coding|CODING|NM_033116.4|2|1),"CD4:DNase1,IMR90:DNase1,CD4:H3K27ac,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,K562:Cjun,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HMEC:DNase1,K562:SP1,NHEK:DNase1,K562:DNase1",,,,0.4806,0.3631,0.4911,0.52,0.56,0.51,,,,,,,,,,,,,,,,
synonymous_variant,FOS,SILENT,NM_005252.3:p.Ser84Ser/c.252C>T,tcC/tcT,LOW,COSM4148254(2),0.702476,0.5665,rs1046117,,,,-1.0075(T),,chr14,75746690,75746690,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser84Ser/c.252C>T|380|FOS|protein_coding|CODING|NM_005252.3|2|1),"H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,NHEK:PolII,CD4:DNase1,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K36me3,CD4:PolII,HeLa-S3:Brg1,NHEK:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,H1ESC:TAF7,HepG2:H3K27me3,K562:HEY1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.5675,0.647,0.7237,0.78,0.88,0.73,,,0.000(P),-1.36(T),0.0000(T),.,2.025885,5.95,-1.11,-1.119000,-0.320000,-1.756000,0.816000,0.987000,0.001000,4.1673
missense_variant,JDP2,MISSENSE,NM_001135049.1:p.Thr24Ala/c.70A>G,Aca/Gca,MODERATE,COSM4148256(1),0.60643,0.6567,rs3625,1(T),0.0(B),-0.975(N),-0.9490(T),,chr14,75904660,75904660,A,G,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr13Ala/c.37A>G|163|JDP2|protein_coding|CODING|NM_001135047.1|2|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr13Ala/c.37A>G|163|JDP2|protein_coding|CODING|NM_001135048.1|2|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr24Ala/c.70A>G|174|JDP2|protein_coding|CODING|NM_001135049.1|2|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr13Ala/c.37A>G|163|JDP2|protein_coding|CODING|NM_130469.3|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5143,0.4409,0.5239,0.60,0.74,0.53,,0.000000(N),1.000(P),"0.7,0.7,0.7,0.61(T,T,T,T)",0.0000(T),0.225,-0.466478,5.61,4.72,-0.215000,0.749000,7.140000,0.229000,0.525000,1.000000,10.7179
missense_variant,FLVCR2,MISSENSE,NM_017791.2:p.Val16Ala/c.47T>C,gTg/gCg,MODERATE,,0.473842,0.5694,rs2287015,0.86(T),0.0(B),-0.205(N),-0.9648(T),,chr14,76045362,76045362,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val16Ala/c.47T>C|526|FLVCR2|protein_coding|CODING|NM_017791.2|1|1),non_coding_exon_variant(MODIFIER|||n.570A>G||LOC102724153||NON_CODING|NR_110552.1|1|1)","CD4:H3K9me1,CD4:H2AZ,HepG2:H3K4me2,HeLa-S3:DNase1,HUVEC:H3K27me3,HUVEC:H3K4me3,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,HeLa-S3:H3K4me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3",,RCV000081864.1,,0.3988,0.3501,0.2137,0.37,0.66,0.22,,0.081943(N),1.000(P),1.53(T),0.0000(T),0.073,0.689647,4.17,-2.59,-0.847000,-0.886000,-0.546000,0.001000,0.000000,0.000000,3.8932
synonymous_variant,FLVCR2,SILENT,NM_017791.2:p.Val181Val/c.543G>A,gtG/gtA,LOW,COSM3721833(2),0.473442,0.5685,rs2287016,,,,,,chr14,76045858,76045858,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val181Val/c.543G>A|526|FLVCR2|protein_coding|CODING|NM_017791.2|1|1),non_coding_exon_variant(MODIFIER|||n.74C>T||LOC102724153||NON_CODING|NR_110552.1|1|1)","HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,HepG2:H3K4me3,IMR90:H3K27me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3",,RCV000081865.1,,0.3988,0.3501,0.2137,0.37,0.66,0.23,,,,,,,,,,,,,,,,
synonymous_variant,FLVCR2,SILENT,NM_017791.2:p.Ser216Ser/c.648C>G,tcC/tcG,LOW,COSM3754117(1),0.473842,0.5694,rs2287017,,,,,,chr14,76045963,76045963,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser216Ser/c.648C>G|526|FLVCR2|protein_coding|CODING|NM_017791.2|1|1),upstream_gene_variant(MODIFIER||32|||LOC102724153||NON_CODING|NR_110552.1||1)","HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,RCV000081866.1,,0.3988,0.3501,0.2137,0.37,0.66,0.22,,,,,,,,,,,,,,,,
missense_variant,TTLL5,MISSENSE,NM_015072.4:p.Ala149Val/c.446C>T,gCt/gTt,MODERATE,COSM3754118(1),0.394369,0.3552,rs2303345,0.28(T),"0.219,0.326,0.108(B,B,B)",1.025(L),-1.0985(T),,chr14,76156609,76156609,C,T,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala149Val/c.446C>T|1281|TTLL5|protein_coding|CODING|NM_015072.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5307,0.5778,0.661,0.48,0.14,0.65,,0.004189(N),0.000(P),"3.93,3.2,4.01(T,T,T)",0.0000(T),0.297,2.533249,5.26,5.26,0.655000,2.442000,4.849000,0.994000,1.000000,1.000000,9.1787
missense_variant,IFT43,MISSENSE,NM_052873.2:p.Asp94Asn/c.280G>A,Gat/Aat,MODERATE,COSM3754120(1),0.16893,0.119,rs17783366,0.55(T),0.002(B),,-0.9933(T),,chr14,76543004,76543004,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp94Asn/c.280G>A|213|IFT43|protein_coding|CODING|NM_052873.2|4|1),intron_variant(MODIFIER|||n.250-5634G>A||IFT43||CODING|NR_045664.1|3|1),intron_variant(MODIFIER|||c.296-5634G>A|208|IFT43|protein_coding|CODING|NM_001102564.1|5|1),intron_variant(MODIFIER|||n.330-5634G>A||IFT43||CODING|NR_045665.1|5|1)","GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1697,0.2046,0.3111,0.25,0.11,0.32,,0.263712(N),1.000(P),0.97(T),0.0000(T),0.009,2.247480,3.98,-0.277,0.561000,-0.160000,-0.309000,0.954000,0.000000,0.000000,1.0305
synonymous_variant,ESRRB,SILENT,NM_004452.3:p.Tyr295Tyr/c.885T>C,taT/taC,LOW,COSM4148262(1),0.992812,1,rs2361293,,,,,,chr14,76957887,76957887,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr295Tyr/c.885T>C|508|ESRRB|protein_coding|CODING|NM_004452.3|8|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3",,RCV000038141.1,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LRRC74A,SILENT,NM_194287.2:p.Pro436Pro/c.1308C>T,ccC/ccT,LOW,,0.916733,0.8948,rs1882844,,,,,,chr14,77332367,77332367,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro436Pro/c.1308C>T|488|LRRC74A|protein_coding|CODING|NM_194287.2|12|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.9693,0.8919,0.995,0.96,0.88,1.00,,,,,,,,,,,,,,,,
missense_variant,LRRC74A,MISSENSE,NM_194287.2:p.Val450Ala/c.1349T>C,gTg/gCg,MODERATE,COSM4148265(1),0.228634,0.0853,rs7160583,1(T),0.0(B),-1.375(N),-0.9200(T),,chr14,77332408,77332408,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val450Ala/c.1349T>C|488|LRRC74A|protein_coding|CODING|NM_194287.2|12|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2076,0.3343,0.329,0.30,0.22,0.34,,0.303900(N),1.000(P),3.25(T),0.0000(T),0.009,-1.221788,5.5,0.535,-0.464000,-0.099000,0.261000,0.035000,0.003000,0.136000,7.8273
synonymous_variant,IRF2BPL,SILENT,NM_024496.3:p.Tyr415Tyr/c.1245C>T,taC/taT,LOW,COSM3754121(2),0.381989,0.5238,rs879027,,,,,,chr14,77492891,77492891,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr415Tyr/c.1245C>T|796|IRF2BPL|protein_coding|CODING|NM_024496.3|1|1),"NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,IMR90:H3K18ac,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.454,0.379,0.5497,0.42,0.19,0.54,,,,,,,,,,,,,,,,
synonymous_variant,IRF2BPL,SILENT,NM_024496.3:p.Gln116Gln/c.348G>A,caG/caA,LOW,COSM3754123(7),,,rs28692724,,,,,,chr14,77493788,77493788,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln116Gln/c.348G>A|796|IRF2BPL|protein_coding|CODING|NM_024496.3|1|1),"H1ESC:H3K36me3,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,CD4:PolII,HeLa-S3:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,IRF2BPL,SILENT,NM_024496.3:p.Glu87Glu/c.261A>G,gaA/gaG,LOW,COSM4148267(2),0.382588,0.5238,rs71428775,,,,,,chr14,77493875,77493875,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu87Glu/c.261A>G|796|IRF2BPL|protein_coding|CODING|NM_024496.3|1|1),"NHEK:H3K9ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.454,0.3804,0.5507,,,,,,,,,,,,,,,,,,,
missense_variant,CIPC,MISSENSE,NM_033426.2:p.Pro381Arg/c.1142C>G,cCt/cGt,MODERATE,,,,rs147337363,0.06(T),"0.044,0.044(B,B)",0(N),-1.1155(T),,chr14,77580603,77580603,C,G,het,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro381Arg/c.1142C>G|399|CIPC|protein_coding|CODING|NM_033426.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.335975(N),0.951(D),1.62(T),0.0571(T),0.046,1.706032,5.91,5.02,0.650000,1.509000,2.713000,0.033000,0.002000,0.015000,12.4793
synonymous_variant,TMEM63C,SILENT,NM_020431.3:p.Ala129Ala/c.387A>G,gcA/gcG,LOW,,1,1,rs375566,,,,,,chr14,77697967,77697967,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala129Ala/c.387A>G|806|TMEM63C|protein_coding|CODING|NM_020431.3|7|1),,,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TMEM63C,SILENT,NM_020431.3:p.Ala211Ala/c.633A>G,gcA/gcG,LOW,,0.802516,0.9256,rs403291,,,,,,chr14,77703057,77703057,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala211Ala/c.633A>G|806|TMEM63C|protein_coding|CODING|NM_020431.3|9|1),,,,,0.7587,0.683,0.7048,0.77,0.87,0.72,,,,,,,,,,,,,,,,
synonymous_variant,POMT2,SILENT,NM_013382.5:p.Leu637Leu/c.1911T>G,ctT/ctG,LOW,COSM4148271(1),0.847045,0.9544,rs3209079,,,,-1.0381(T),,chr14,77745193,77745193,A,C,hom,synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu637Leu/c.1911T>G|750|POMT2|protein_coding|CODING|NM_013382.5|19|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7853,0.755,0.8539,0.82,0.84,0.81,,,0.000(P),,0.0000(T),.,0.269863,5.77,1.73,-0.217000,0.093000,-0.779000,0.571000,0.996000,0.000000,1.8636
synonymous_variant,POMT2,SILENT,NM_013382.5:p.Arg461Arg/c.1383G>A,agG/agA,LOW,COSM4148272(1),0.858227,0.9534,rs2270419,,,,,,chr14,77751925,77751925,C,T,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg461Arg/c.1383G>A|750|POMT2|protein_coding|CODING|NM_013382.5|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:Nrsf,GM06990:H3K36me3",,,,0.8098,0.7594,0.8469,0.83,0.87,0.81,,,,,,,,,,,,,,,,
synonymous_variant,POMT2,SILENT,NM_013382.5:p.Ala54Ala/c.162G>T,gcG/gcT,LOW,COSM3754126(2),0.0830671,0.2371,rs2270420,,,,,,chr14,77786863,77786863,C,A,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala54Ala/c.162G>T|750|POMT2|protein_coding|CODING|NM_013382.5|1|1),upstream_gene_variant(MODIFIER||367||216|GSTZ1|protein_coding|CODING|NM_145870.2||1),upstream_gene_variant(MODIFIER||367||174|GSTZ1|protein_coding|CODING|NM_145871.2||1),upstream_gene_variant(MODIFIER||843||161|GSTZ1|protein_coding|CODING|NM_001513.3||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,RCV000081566.3,,0.0838,0.0375,0.0636,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,GSTZ1,MISSENSE,NM_145870.2:p.Met82Thr/c.245T>C,aTg/aCg,MODERATE,,0.853035,0.9554,rs1046428,1(T),0.0(B),-1.75(N),-0.9663(T),,chr14,77794283,77794283,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met27Thr/c.80T>C|161|GSTZ1|protein_coding|CODING|NM_001513.3|6|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met82Thr/c.245T>C|216|GSTZ1|protein_coding|CODING|NM_145870.2|5|1),intron_variant(MODIFIER|||c.216+388T>C|174|GSTZ1|protein_coding|CODING|NM_145871.2|4|1)",GM06990:H3K36me3,,,,0.7822,0.7406,0.8121,0.84,0.90,0.80,,0.000000(N),0.000(P),"1.84,1.84,2.67,1.84,2.67,1.84,1.84,1.84,1.84(T,T,T,T,T,T,T,T,T)",0.0000(T),0.133,0.150033,4.8,4.8,-0.119000,1.146000,3.519000,0.938000,0.990000,0.996000,10.8204
missense_variant,TMED8,MISSENSE,NM_213601.1:p.Pro15His/c.44C>A,cCc/cAc,MODERATE,COSM4148274(3),0.249601,0.0595,rs10141317,0(D),0.397(B),0.695(N),-0.9363(T),,chr14,77843353,77843353,G,T,hom,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro15His/c.44C>A|325|TMED8|protein_coding|CODING|NM_213601.1|1|1),upstream_gene_variant(MODIFIER||409||674|SAMD15|protein_coding|CODING|NM_001010860.1||1)","NHEK:CTCF,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HMEC:CTCF,HeLa-S3:Gabp,HeLa-S3:PolII,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.2096,0.1844,0.2813,,,,,0.059974(N),0.000(P),1.22(T),0.0000(T),0.27,4.271026,4.17,3.25,0.491000,2.136000,3.685000,0.938000,1.000000,1.000000,10.1225
missense_variant,TMED8,MISSENSE,NM_213601.1:p.Gln5Lys/c.13C>A,Cag/Aag,MODERATE,COSM4148277(2),0.248602,0.0595,rs3742737,1(T),0.002(B),0.345(N),-0.9568(T),,chr14,77843384,77843384,G,T,hom,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln5Lys/c.13C>A|325|TMED8|protein_coding|CODING|NM_213601.1|1|1),upstream_gene_variant(MODIFIER||378||674|SAMD15|protein_coding|CODING|NM_001010860.1||1)","NHEK:CTCF,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HMEC:CTCF,HeLa-S3:Gabp,HeLa-S3:PolII,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.2096,0.183,0.2803,,,,,0.829411(N),0.999(P),2.03(T),0.0000(T),0.144,0.088055,4.17,3.22,0.491000,2.136000,1.687000,0.880000,0.827000,0.012000,11.7893
missense_variant,SAMD15,MISSENSE,NM_001010860.1:p.Leu18Pro/c.53T>C,cTg/cCg,MODERATE,COSM147819(3),0.513179,0.0893,rs11844594,0.33(T),0.0(B),0.6(N),-1.0245(T),,chr14,77843814,77843814,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu18Pro/c.53T>C|674|SAMD15|protein_coding|CODING|NM_001010860.1|1|1),upstream_gene_variant(MODIFIER||418||325|TMED8|protein_coding|CODING|NM_213601.1||1)","CD4:H2AZ,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HUVEC:H3K4me2,HeLa-S3:Gabp,HeLa-S3:H3K27ac,HepG2:H3K4me3,K562:Yy1,HUVEC:H3K4me1,NHEK:H3K4me2,CD4:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.4806,0.4841,0.497,0.59,0.82,0.47,,0.959327(N),1.000(P),1.21(T),0.0000(T),0.071,1.135248,5.2,-1.74,-0.215000,-1.173000,-0.605000,0.003000,0.000000,0.000000,5.4263
missense_variant,SAMD15,MISSENSE,NM_001010860.1:p.Lys370Glu/c.1108A>G,Aaa/Gaa,MODERATE,COSM147820(3),0.523163,0.0893,rs4903576,1(T),0.0(B),-0.55(N),-0.9867(T),,chr14,77844869,77844869,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys370Glu/c.1108A>G|674|SAMD15|protein_coding|CODING|NM_001010860.1|1|1),upstream_gene_variant(MODIFIER||1473||325|TMED8|protein_coding|CODING|NM_213601.1||1)",H1ESC:H3K27me3,,,,0.4806,0.4841,0.497,0.60,0.85,0.47,,0.459412(N),1.000(P),1.52(T),0.0000(T),0.065,-0.987681,5.35,2.43,-0.227000,0.262000,-0.524000,0.021000,0.001000,0.000000,4.4543
missense_variant,SAMD15,MISSENSE,NM_001010860.1:p.Lys454Glu/c.1360A>G,Aaa/Gaa,MODERATE,COSM147821(2),0.512979,0.0883,rs2193595,1(T),0.0(B),-0.2(N),-0.9786(T),,chr14,77845121,77845121,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys454Glu/c.1360A>G|674|SAMD15|protein_coding|CODING|NM_001010860.1|1|1),upstream_gene_variant(MODIFIER||1725||325|TMED8|protein_coding|CODING|NM_213601.1||1)",H1ESC:H3K27me3,,,,0.4806,0.4841,0.497,0.59,0.82,0.47,,,1.000(P),1.37(T),0.0000(T),0.006,-1.454591,2.27,-2.42,-0.227000,-0.675000,-0.968000,0.007000,0.000000,0.000000,3.7904
synonymous_variant,AHSA1,SILENT,NM_012111.2:p.Gln98Gln/c.294A>G,caA/caG,LOW,,0.623802,0.9196,rs1061638,,,,-1.0461(T),,chr14,77928525,77928525,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln98Gln/c.294A>G|338|AHSA1|protein_coding|CODING|NM_012111.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6135,0.6153,0.666,0.60,0.43,0.68,,,0.000(P),,0.0000(T),.,0.750765,5.43,2.2,-0.996000,0.287000,0.810000,0.720000,0.996000,1.000000,8.4177
synonymous_variant,ISM2,SILENT,NM_199296.2:p.Thr471Thr/c.1413G>A,acG/acA,LOW,,,,rs371716934,,,,,,chr14,77942241,77942241,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr471Thr/c.1413G>A|571|ISM2|protein_coding|CODING|NM_199296.2|7|1),3_prime_UTR_variant(MODIFIER||188|c.*188G>A|292|ISM2|protein_coding|CODING|NM_182509.3|6|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,SPTLC2,SILENT,NM_004863.3:p.Asn262Asn/c.786T>C,aaT/aaC,LOW,,0.83746,0.9891,rs2364602,,,,-1.0136(T),,chr14,78028803,78028803,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn262Asn/c.786T>C|562|SPTLC2|protein_coding|CODING|NM_004863.3|6|1),"H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9652,0.8184,0.9423,0.83,0.64,0.93,,,0.000(P),,0.0000(T),.,0.568980,5.73,5.73,-0.226000,1.579000,1.110000,0.646000,1.000000,1.000000,11.672
synonymous_variant,SLIRP,SILENT,NM_031210.5:p.Arg7Arg/c.19A>C,Aga/Cga,LOW,,0.870008,0.8363,rs11159286,,,,,,chr14,78174473,78174473,A,C,hom,"synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg7Arg/c.19A>C|107|SLIRP|protein_coding|CODING|NM_001267863.1|1|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg7Arg/c.19A>C|92|SLIRP|protein_coding|CODING|NM_001267864.1|1|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg7Arg/c.19A>C|109|SLIRP|protein_coding|CODING|NM_031210.5|1|1),upstream_gene_variant(MODIFIER||117||389|ALKBH1|protein_coding|CODING|NM_006020.2||1),non_coding_exon_variant(MODIFIER|||n.60A>C||SLIRP||CODING|NR_052025.1|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,CD4:CBP,HeLa-S3:Cmyc,K562:Max,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,CD4:H4K8ac,GM12878:SIX5,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HeLa-S3:Gabp,HeLa-S3:PolII,H1ESC:Yy1,K562:H3K9ac,GM12878:TAF1,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:Tr4,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.819,0.938,0.9642,0.92,0.85,0.96,,,,,,,,,,,,,,,,
synonymous_variant,SNW1,SILENT,NM_012245.2:p.Val492Val/c.1476G>T,gtG/gtT,LOW,,0.84365,0.7262,rs176960,,0.0(B),,-1.0079(T),,chr14,78184566,78184566,C,A,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val492Val/c.1476G>T|536|SNW1|protein_coding|CODING|NM_012245.2|14|1),downstream_gene_variant(MODIFIER||625||107|SLIRP|protein_coding|CODING|NM_001267863.1||1),downstream_gene_variant(MODIFIER||625||92|SLIRP|protein_coding|CODING|NM_001267864.1||1),downstream_gene_variant(MODIFIER||625||109|SLIRP|protein_coding|CODING|NM_031210.5||1),downstream_gene_variant(MODIFIER||625|||SLIRP||CODING|NR_052025.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8763,0.8343,0.832,0.85,0.89,0.83,,,0.000(P),,0.0000(T),.,-1.014224,5.67,1.83,-0.539000,-0.167000,0.104000,0.915000,0.997000,0.901000,10.421
synonymous_variant,ADCK1,SILENT,NM_020421.3:p.Ser256Ser/c.768C>T,tcC/tcT,LOW,,0.0764776,0.001,rs34272020,,,,,,chr14,78374172,78374172,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser188Ser/c.564C>T|455|ADCK1|protein_coding|CODING|NM_001142545.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser256Ser/c.768C>T|523|ADCK1|protein_coding|CODING|NM_020421.3|7|1)","NHEK:H3K36me3,GM06990:H3K36me3",,,,0.047,0.0994,0.1322,0.12,0.12,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ADCK1,SILENT,NM_020421.3:p.Asn313Asn/c.939T>C,aaT/aaC,LOW,,0.234625,0.2798,rs2302944,,,,,,chr14,78390880,78390880,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn245Asn/c.735T>C|455|ADCK1|protein_coding|CODING|NM_001142545.1|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn313Asn/c.939T>C|523|ADCK1|protein_coding|CODING|NM_020421.3|8|1)",GM06990:H3K36me3,,,,0.3354,0.196,0.2127,0.20,0.18,0.21,,,,,,,,,,,,,,,,
missense_variant,CEP128,MISSENSE,NM_152446.3:p.His732Arg/c.2195A>G,cAt/cGt,MODERATE,COSM147825(2),0.332268,0.1806,rs327463,0.49(T),0.89(P),1.5(L),-0.9127(T),,chr14,81251255,81251255,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His732Arg/c.2195A>G|1094|CEP128|protein_coding|CODING|NM_152446.3|14|1),"NHEK:CTCF,H1ESC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.544,0.3602,0.3827,0.36,0.27,0.40,,0.000692(D),0.000(P),"1.55,1.55(T,T)",0.0000(T),0.286,1.637792,6.06,4.88,0.472000,2.326000,2.088000,0.946000,1.000000,1.000000,12.7799
synonymous_variant,TSHR,SILENT,NM_001142626.2:p.Leu253Leu/c.759A>G,ctA/ctG,LOW,,0.611222,0.3889,rs3783942,,,,,,chr14,81574959,81574959,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu253Leu/c.759A>G|274|TSHR|protein_coding|CODING|NM_001142626.2|9|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu232Leu/c.696A>G|253|TSHR|protein_coding|CODING|NM_001018036.2|9|1),intron_variant(MODIFIER|||c.692+163A>G|764|TSHR|protein_coding|CODING|NM_000369.2|8|1)",,,,,0.7331,0.6268,0.671,0.64,0.62,0.66,,,,,,,,,,,,,,,,
missense_variant,TSHR,MISSENSE,NM_001142626.2:p.Arg269Ser/c.805C>A,Cgc/Agc,MODERATE,,0.610224,0.3889,rs3783941,0.75(T),"0.001,0.0(B,B)",-0.69(N),-1.0207(T),,chr14,81575005,81575005,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg269Ser/c.805C>A|274|TSHR|protein_coding|CODING|NM_001142626.2|9|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg248Ser/c.742C>A|253|TSHR|protein_coding|CODING|NM_001018036.2|9|1),intron_variant(MODIFIER|||c.692+209C>A|764|TSHR|protein_coding|CODING|NM_000369.2|8|1)",,,,,0.7321,0.6239,0.671,0.64,0.61,0.66,,,1.000(P),"-1.17,-1.2(T,T)",0.0000(T),0.025,0.873263,4.29,-8.59,-0.346000,-2.513000,-0.988000,0.002000,0.000000,0.000000,1.3539
missense_variant,TSHR,MISSENSE,NM_000369.2:p.Glu727Asp/c.2181G>C,gaG/gaC,MODERATE,,0.896765,0.8472,rs1991517,0.67(T),0.0(B),,-0.9753(T),,chr14,81610583,81610583,G,C,hom,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu727Asp/c.2181G>C|764|TSHR|protein_coding|CODING|NM_000369.2|10|1),,,,,0.911,0.8631,0.8956,0.92,0.94,0.91,,0.025179(N),1.000(P),"-0.92,-0.92(T,T)",0.0000(T),0.02,-3.126236,5.05,2.08,-0.232000,0.675000,-0.125000,0.023000,0.006000,0.136000,2.8773
splice_acceptor_variant,GTF2A1,protein_coding,NM_001278940.1:c.1A>G,,HIGH,,0.0455272,0.0089,rs12895990,,,,,GTF2A1:0.33(3);,chr14,81676282,81676282,T,C,het,"splice_acceptor_variant(HIGH|||c.1A>G|326|GTF2A1|protein_coding|CODING|NM_001278940.1|3|1),intron_variant(MODIFIER|||c.133-5834A>G|376|GTF2A1|protein_coding|CODING|NM_015859.3|2|1),intron_variant(MODIFIER|||c.16-5834A>G|337|GTF2A1|protein_coding|CODING|NM_201595.2|2|1),intron_variant(MODIFIER|||c.-85-2A>G|326|GTF2A1|protein_coding|CODING|NM_001278940.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.0519,0.1014,,,,,,,,,,,,,,,,,,,
missense_variant,STON2,MISSENSE,NM_001256430.1:p.Ser851Ala/c.2551T>G,Tct/Gct,MODERATE,COSM4148284(1),0.432907,0.378,rs2241621,0.17(T),"0.992,0.987(D,D)",1.73(L),-0.9418(T),,chr14,81737076,81737076,A,C,het,"missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser851Ala/c.2551T>G|905|STON2|protein_coding|CODING|NM_033104.3|6|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser851Ala/c.2551T>G|920|STON2|protein_coding|CODING|NM_001256430.1|7|1)","K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.5685,0.4928,0.5944,0.49,0.29,0.59,,0.000147(D),0.001(P),"2.06,2.06(T,T)",0.0000(T),0.505,3.024531,5.58,4.41,0.533000,0.900000,3.301000,0.399000,0.979000,1.000000,11.8528
missense_variant,STON2,MISSENSE,NM_001256430.1:p.Ser307Pro/c.919T>C,Tca/Cca,MODERATE,COSM3999387(2),0.745008,0.5397,rs3813535,1(T),"0.0,0.0(B,B)",-1.78(N),-0.9597(T),,chr14,81744736,81744736,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser307Pro/c.919T>C|920|STON2|protein_coding|CODING|NM_001256430.1|6|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser307Pro/c.919T>C|905|STON2|protein_coding|CODING|NM_033104.3|5|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7106,0.7939,0.8241,0.85,0.84,0.85,,0.001606(N),0.999(P),"1.63,1.63(T,T)",0.0000(T),0.195,-0.686078,6.17,6.17,-0.119000,1.644000,4.031000,0.667000,0.961000,1.000000,15.8587
synonymous_variant,FLRT2,SILENT,NM_013231.4:p.Thr66Thr/c.198T>C,acT/acC,LOW,,0.994409,0.9722,rs10141266,,,,,,chr14,86088056,86088056,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr66Thr/c.198T>C|660|FLRT2|protein_coding|CODING|NM_013231.4|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,FLRT2,MISSENSE,NM_013231.4:p.Val350Ile/c.1048G>A,Gtc/Atc,MODERATE,,0.000798722,0,rs138508218,1(T),0.004(B),-0.515(N),-0.9002(T),,chr14,86088906,86088906,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val350Ile/c.1048G>A|660|FLRT2|protein_coding|CODING|NM_013231.4|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0,0.0029,0.002,0.00,0.00,0.00,,0.000001(D),0.999(D),"4.29,4.29(T,T)",0.0055(T),0.103,-0.072460,6.07,6.07,0.655000,2.884000,6.135000,0.989000,0.989000,1.000000,20.6439
missense_variant,GALC,MISSENSE,NM_000153.3:p.Thr641Ala/c.1921A>G,Acc/Gcc,MODERATE,,0.940695,0.9306,rs421262,0.81(T),0.0(B),,-0.9515(T),,chr14,88401213,88401213,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr641Ala/c.1921A>G|685|GALC|protein_coding|CODING|NM_000153.3|17|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr618Ala/c.1852A>G|662|GALC|protein_coding|CODING|NM_001201401.1|16|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr615Ala/c.1843A>G|659|GALC|protein_coding|CODING|NM_001201402.1|17|1)","IMR90:H3K36me3,CD4:H3K36me3",,RCV000078197.1,,0.9918,0.9841,1,0.96,0.87,1.00,,0.001643(N),0.992(P),"-2.78,-2.78,-2.78(D,D,D)",0.0000(T),0.038,-0.676776,5.6,-3.09,-1.651000,-0.659000,0.519000,0.001000,0.001000,0.052000,10.7809
synonymous_variant,GALC,SILENT,NM_000153.3:p.Val566Val/c.1698A>T,gtA/gtT,LOW,,0.940895,0.9306,rs421466,,,,,,chr14,88407875,88407875,T,A,hom,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val566Val/c.1698A>T|685|GALC|protein_coding|CODING|NM_000153.3|15|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val543Val/c.1629A>T|662|GALC|protein_coding|CODING|NM_001201401.1|14|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val540Val/c.1620A>T|659|GALC|protein_coding|CODING|NM_001201402.1|15|1)",,,RCV000078195.1,,0.9918,0.9841,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,GALC,MISSENSE,NM_000153.3:p.Ile562Thr/c.1685T>C,aTa/aCa,MODERATE,COSM3754140(2),0.447484,0.2312,rs398607,0.03(D),"0.156,0.345,0.234,0.345(B,B,B,B)",1.905(M),-1.0046(T),,chr14,88407888,88407888,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile562Thr/c.1685T>C|685|GALC|protein_coding|CODING|NM_000153.3|15|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile539Thr/c.1616T>C|662|GALC|protein_coding|CODING|NM_001201401.1|14|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile536Thr/c.1607T>C|659|GALC|protein_coding|CODING|NM_001201402.1|15|1)",,,RCV000078194.1,,0.41,0.379,0.4881,0.52,0.61,0.48,,0.001511(N),0.992(P),"-3.33,-3.33,-3.33,-3.33(D,D,D,D)",0.0000(T),0.483,3.950939,5.73,5.73,0.477000,2.195000,9.270000,0.281000,0.024000,0.977000,16.0255
synonymous_variant,GALC,SILENT,NM_000153.3:p.Thr540Thr/c.1620A>G,acA/acG,LOW,,0.942692,0.9315,rs367327,,,,,,chr14,88411947,88411947,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr540Thr/c.1620A>G|685|GALC|protein_coding|CODING|NM_000153.3|14|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr517Thr/c.1551A>G|662|GALC|protein_coding|CODING|NM_001201401.1|13|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr514Thr/c.1542A>G|659|GALC|protein_coding|CODING|NM_001201402.1|14|1)",,,,,0.9918,0.9841,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GALC,SILENT,NM_000153.3:p.Ser450Ser/c.1350C>T,agC/agT,LOW,COSM3999388(1),0.366613,0.2302,rs398076,,,,,,chr14,88414211,88414211,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser450Ser/c.1350C>T|685|GALC|protein_coding|CODING|NM_000153.3|13|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser427Ser/c.1281C>T|662|GALC|protein_coding|CODING|NM_001201401.1|12|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser424Ser/c.1272C>T|659|GALC|protein_coding|CODING|NM_001201402.1|13|1)","IMR90:H3K36me3,CD4:H3K36me3",,RCV000078191.1,,0.3906,0.33,0.4105,0.41,0.43,0.40,,,,,,,,,,,,,,,,
synonymous_variant,GALC,SILENT,NM_000153.3:p.Gln328Gln/c.984G>A,caG/caA,LOW,COSM3999389(1),0.33107,0.5327,rs12888666,,,,,,chr14,88431898,88431898,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln328Gln/c.984G>A|685|GALC|protein_coding|CODING|NM_000153.3|9|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln305Gln/c.915G>A|662|GALC|protein_coding|CODING|NM_001201401.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln302Gln/c.906G>A|659|GALC|protein_coding|CODING|NM_001201402.1|9|1)",,,RCV000078210.1,,0.3855,0.4236,0.3429,0.28,0.12,0.35,,,,,,,,,,,,,,,,
synonymous_variant,GPR65,SILENT,NM_003608.3:p.Thr74Thr/c.222C>T,acC/acT,LOW,,0.820487,0.9831,rs6574978,,,,,,chr14,88477413,88477413,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr74Thr/c.222C>T|337|GPR65|protein_coding|CODING|NM_003608.3|2|1),"CD4:H3K36me3,CD4:H3K4me1,GM06990:H3K36me3",,,,0.8558,0.8141,0.6779,0.70,0.77,0.67,,,,,,,,,,,,,,,,
missense_variant,KCNK10,MISSENSE,NM_138317.2:p.Ala517Thr/c.1549G>A,Gct/Act,MODERATE,,0.102236,0.0089,rs17762463,0.03(D),"0.01,0.005,0.01(B,B,B)",0.69(N),-1.0419(T),,chr14,88651962,88651962,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala512Thr/c.1534G>A|538|KCNK10|protein_coding|CODING|NM_021161.4|7|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala517Thr/c.1549G>A|543|KCNK10|protein_coding|CODING|NM_138317.2|7|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala517Thr/c.1549G>A|543|KCNK10|protein_coding|CODING|NM_138318.2|7|1)",HepG2:H3K27me3,,,,0.091,0.1412,0.2942,0.21,0.06,0.28,,0.149895(N),1.000(P),"-2.76,-2.76,-2.75(D,D,D)",0.0001(T),0.158,0.550869,5.5,3.49,0.655000,0.657000,2.380000,0.150000,0.016000,0.178000,12.4173
missense_variant,SPATA7,MISSENSE,NM_018418.4:p.Asp2Asn/c.4G>A,Gat/Aat,MODERATE,COSM433448(3),0.189896,0.0446,rs4904448,0.07(T),"0.018,0.385(B,B)",1.61(L),-0.9664(T),,chr14,88852166,88852166,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp2Asn/c.4G>A|567|SPATA7|protein_coding|CODING|NM_001040428.3|1|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp2Asn/c.4G>A|599|SPATA7|protein_coding|CODING|NM_018418.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,CD4:H4K8ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,RCV000081955.1,,0.2382,0.2608,0.4443,0.29,0.11,0.39,,0.825115(N),0.865(P),"1.1,1.31,1.1,1.81,0.65,1.21(T,T,T,T,T,T)",0.0000(T),0.087,2.122744,4.25,2.23,0.655000,0.436000,0.243000,0.974000,0.989000,0.988000,6.4031
missense_variant,SPATA7,MISSENSE,NM_018418.4:p.Val74Met/c.220G>A,Gtg/Atg,MODERATE,,0.407548,0.3621,rs3179969,1(T),"0.002,0.001(B,B)",-0.745(N),-0.9167(T),,chr14,88862529,88862529,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val42Met/c.124G>A|567|SPATA7|protein_coding|CODING|NM_001040428.3|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val74Met/c.220G>A|599|SPATA7|protein_coding|CODING|NM_018418.4|4|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4284,0.281,0.3002,0.41,0.54,0.34,,0.355375(N),1.000(P),"2.34,2.34,2.34,2.34,1.23,2.34(T,T,T,T,T,T)",0.0000(T),0.266,1.218398,5.36,2.45,-0.521000,-0.020000,1.184000,0.374000,0.769000,1.000000,3.8224
synonymous_variant,PTPN21,SILENT,NM_007039.3:p.Thr1051Thr/c.3153T>C,acT/acC,LOW,COSM3999394(1),0.395168,0.38,rs2297129,,,,,,chr14,88935925,88935925,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr1051Thr/c.3153T>C|1174|PTPN21|protein_coding|CODING|NM_007039.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4243,0.2781,0.2962,0.40,0.51,0.34,,,,,,,,,,,,,,,,
missense_variant,PTPN21,MISSENSE,NM_007039.3:p.Val936Ala/c.2807T>C,gTg/gCg,MODERATE,,0.395767,0.38,rs2274736,0.3(T),0.0(B),-1.04(N),-0.9403(T),,chr14,88938652,88938652,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val936Ala/c.2807T>C|1174|PTPN21|protein_coding|CODING|NM_007039.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4264,0.2781,0.2962,0.40,0.51,0.34,,0.000078(N),1.000(P),"2.65,2.65(T,T)",0.0000(T),0.075,1.298031,5.86,5.86,-0.119000,1.502000,3.948000,0.315000,0.050000,1.000000,15.2622
synonymous_variant,PTPN21,SILENT,NM_007039.3:p.Pro728Pro/c.2184T>C,ccT/ccC,LOW,COSM3754143(1),0.395567,0.38,rs879932,,,,,,chr14,88945591,88945591,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro728Pro/c.2184T>C|1174|PTPN21|protein_coding|CODING|NM_007039.3|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4243,0.2781,0.2962,0.39,0.50,0.34,,,,,,,,,,,,,,,,
missense_variant,PTPN21,MISSENSE,NM_007039.3:p.Leu385Phe/c.1153C>T,Ctc/Ttc,MODERATE,COSM3999395(1),0.35643,0.38,rs2401751,0.37(T),0.03(B),0.805(L),-0.9878(T),,chr14,88946622,88946622,G,A,hom,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu385Phe/c.1153C>T|1174|PTPN21|protein_coding|CODING|NM_007039.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4223,0.2651,0.2962,0.35,0.37,0.34,,0.001564(N),1.000(P),"-0.77,-0.77(T,T)",0.0000(T),0.027,0.861786,5.5,0.973,-1.077000,0.284000,4.629000,0.488000,0.008000,1.000000,3.566
missense_variant,EML5,MISSENSE,NM_183387.2:p.Ile269Val/c.805A>G,Att/Gtt,MODERATE,COSM3999398(1),0.246006,0.3909,rs17188228,0.57(T),0.841(P),1.64(L),-0.6350(T),,chr14,89205265,89205265,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile269Val/c.805A>G|1977|EML5|protein_coding|CODING|NM_183387.2|6|1),HUVEC:H3K27me3,,,,0.2434,0.2291,0.2256,0.23,0.17,0.25,,0.000000(D),0.000(P),"5.05,5.05,5.05(T,T,T)",0.0000(T),0.254,2.659503,5.5,5.5,0.454000,2.091000,7.698000,0.998000,1.000000,1.000000,15.5946
synonymous_variant,PSMC1,SILENT,NM_002802.2:p.Ile115Ile/c.345C>T,atC/atT,LOW,,0.52476,0.4812,rs4811,,,,,,chr14,90730071,90730071,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile115Ile/c.345C>T|440|PSMC1|protein_coding|CODING|NM_002802.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.591,0.6398,0.6014,0.54,0.41,0.60,,,,,,,,,,,,,,,,
synonymous_variant,NRDE2,SILENT,NM_017970.3:p.Val507Val/c.1521G>A,gtG/gtA,LOW,,0.676318,0.7976,rs3825661,,,,,,chr14,90767607,90767607,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val507Val/c.1521G>A|1164|NRDE2|protein_coding|CODING|NM_017970.3|7|1),"H1ESC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7239,0.6484,0.671,0.66,0.60,0.70,,,,,,,,,,,,,,,,
missense_variant,NRDE2,MISSENSE,NM_017970.3:p.Val507Met/c.1519G>A,Gtg/Atg,MODERATE,,0.00479233,0,rs79341977,0.11(T),0.997(D),1.905(M),-0.7888(T),,chr14,90767609,90767609,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val507Met/c.1519G>A|1164|NRDE2|protein_coding|CODING|NM_017970.3|7|1),"H1ESC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0058,0.008,0.01,0.00,0.01,,0.000001(D),1.000(D),"1.31,1.31(T,T)",0.1601(T),0.683,3.284749,5.8,4.91,-0.156000,1.445000,4.631000,0.357000,0.822000,1.000000,17.0515
synonymous_variant,TTC7B,SILENT,NM_001010854.1:p.Pro428Pro/c.1284A>G,ccA/ccG,LOW,COSM4148295(1),0.891773,0.9812,rs3742660,,,,-1.0659(T),,chr14,91123575,91123575,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro428Pro/c.1284A>G|843|TTC7B|protein_coding|CODING|NM_001010854.1|11|1),"HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9274,0.8545,0.8588,0.86,0.85,0.87,,,0.000(P),,0.0000(T),.,-0.919400,5.35,-10.7,-3.368000,-3.663000,-3.998000,0.015000,0.006000,0.000000,3.9977
synonymous_variant,TTC7B,SILENT,NM_001010854.1:p.Thr253Thr/c.759G>A,acG/acA,LOW,COSM3754152(1),0.619409,0.6885,rs10146731,,,,,,chr14,91161862,91161862,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr253Thr/c.759G>A|843|TTC7B|protein_coding|CODING|NM_001010854.1|6|1),NHEK:H3K36me3,,,,0.683,0.6585,0.6302,0.61,0.53,0.65,,,,,,,,,,,,,,,,
missense_variant,RPS6KA5,MISSENSE,NM_004755.2:p.Asn723Asp/c.2167A>G,Aac/Gac,MODERATE,,,,,0.01(D),0.119(B),2.02(M),-0.4965(T),,chr14,91338660,91338660,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn723Asp/c.2167A>G|802|RPS6KA5|protein_coding|CODING|NM_004755.2|17|1),"NHEK:H3K4me1,GM12878:H3K36me3,CD4:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"-0.3,-0.29(T,T)",0.2313(T),0.331,3.608869,5.25,5.25,0.533000,2.111000,7.997000,0.809000,1.000000,1.000000,15.4635
missense_variant,CCDC88C,MISSENSE,NM_001080414.3:p.Leu1992Pro/c.5975T>C,cTc/cCc,MODERATE,,0.805911,0.5784,rs941920,0.39(T),"0.0,0.0,0.0(B,B,B)",-0.895(N),-1.0161(T),,chr14,91739081,91739081,A,G,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1992Pro/c.5975T>C|2028|CCDC88C|protein_coding|CODING|NM_001080414.3|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7065,0.7954,0.8936,0.92,0.98,0.90,,0.608348(N),1.000(P),"2.44,0.83(T,T)",0.0000(T),0.071,-1.147213,4.07,-2.61,-0.642000,-1.392000,-0.560000,0.029000,0.000000,0.000000,2.8718
synonymous_variant,CCDC88C,SILENT,NM_001080414.3:p.Arg1659Arg/c.4975C>A,Cgg/Agg,LOW,COSM306927(2),0.0141773,0,rs150512553,,,,,,chr14,91744349,91744349,G,T,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1659Arg/c.4975C>A|2028|CCDC88C|protein_coding|CODING|NM_001080414.3|29|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0288,0.0338,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CCDC88C,SILENT,NM_001080414.3:p.Gln1369Gln/c.4107G>A,caG/caA,LOW,COSM3754157(2),0.202676,0.0843,rs12891713,,,,,,chr14,91760522,91760522,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1369Gln/c.4107G>A|2028|CCDC88C|protein_coding|CODING|NM_001080414.3|23|1),"H1ESC:H3K36me3,CD4:H2BK5ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0716,0.1412,0.1193,0.21,0.41,0.11,,,,,,,,,,,,,,,,
synonymous_variant,CATSPERB,SILENT,NM_024764.2:p.Val779Val/c.2337G>C,gtG/gtC,LOW,,0.801118,0.9752,rs1620238,,,,,,chr14,92084004,92084004,C,G,hom,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val779Val/c.2337G>C|1116|CATSPERB|protein_coding|CODING|NM_024764.2|20|1),,,,,0.8701,0.8184,0.7714,0.71,0.65,0.75,,,,,,,,,,,,,,,,
synonymous_variant,CATSPERB,SILENT,NM_024764.2:p.Ile732Ile/c.2196C>T,atC/atT,LOW,,0.800319,0.9752,rs1296082,,,,,,chr14,92088016,92088016,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile732Ile/c.2196C>T|1116|CATSPERB|protein_coding|CODING|NM_024764.2|19|1),,,,,0.8701,0.8184,0.7714,0.71,0.64,0.75,,,,,,,,,,,,,,,,
missense_variant,TC2N,MISSENSE,NM_001128595.2:p.Lys151Thr/c.452A>C,aAg/aCg,MODERATE,,0.966853,1,rs2402073,0.73(T),"0.0,0.0(B,B)",0(N),-0.9914(T),,chr14,92268615,92268615,T,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys151Thr/c.452A>C|490|TC2N|protein_coding|CODING|NM_001128595.2|4|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys151Thr/c.452A>C|490|TC2N|protein_coding|CODING|NM_001128596.2|4|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys151Thr/c.452A>C|426|TC2N|protein_coding|CODING|NM_001289134.1|4|1),missense_variant(MODERATE|MISSENSE|aAg/aCg|p.Lys151Thr/c.452A>C|490|TC2N|protein_coding|CODING|NM_152332.5|4|1)",HMEC:H3K36me3,,,,0.9949,0.9798,0.9712,0.98,0.94,1.00,,0.014080(N),1.000(P),"3.4,3.4,3.4,2.52(T,T,T,T)",0.0000(T),0.095,-0.846625,5.63,-0.357,-0.787000,-0.566000,0.036000,0.050000,0.000000,0.000000,0.7133
synonymous_variant,FBLN5,SILENT,NM_006329.3:p.Ile315Ile/c.945T>C,atT/atC,LOW,,0.784944,0.8323,rs2430347,,,,,,chr14,92347680,92347680,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile315Ile/c.945T>C|448|FBLN5|protein_coding|CODING|NM_006329.3|9|1),"CD4:H3K18ac,CD4:DNase1,CD4:H2BK20ac,IMR90:H3K36me3",,,,0.7485,0.8415,0.7525,0.76,0.79,0.74,,,,,,,,,,,,,,,,
synonymous_variant,ATXN3,SILENT,NM_004993.5:p.Val164Val/c.492C>T,gtC/gtT,LOW,COSM147835(1),0.566693,0.5565,rs16999141,,,,,,chr14,92549586,92549586,G,A,het,"splice_region_variant(LOW|||n.459C>T||ATXN3||CODING|NR_028458.1|5|1),splice_region_variant(LOW|||n.459C>T||ATXN3||CODING|NR_028462.1|5|1),splice_region_variant(LOW|||n.483C>T||ATXN3||CODING|NR_028467.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val149Val/c.447C>T|346|ATXN3|protein_coding|CODING|NM_001127696.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val113Val/c.339C>T|310|ATXN3|protein_coding|CODING|NM_001127697.2|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val43Val/c.129C>T|240|ATXN3|protein_coding|CODING|NM_001164779.1|3|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val94Val/c.282C>T|291|ATXN3|protein_coding|CODING|NM_001164781.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val164Val/c.492C>T|361|ATXN3|protein_coding|CODING|NM_004993.5|7|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val109Val/c.327C>T|306|ATXN3|protein_coding|CODING|NM_030660.4|6|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||182|ATXN3|protein_coding|CODING|NM_001164780.1|4|1),5_prime_UTR_variant(MODIFIER||46|c.-46C>T|182|ATXN3|protein_coding|CODING|NM_001164780.1|4|1),intron_variant(MODIFIER|||c.387+10010C>T|154|ATXN3|protein_coding|CODING|NM_001164778.1|5|1),intron_variant(MODIFIER|||n.370+10010C>T||ATXN3||CODING|NR_028460.1|4|1),intron_variant(MODIFIER|||n.160+10010C>T||ATXN3||CODING|NR_028470.1|2|1),intron_variant(MODIFIER|||c.235-12189C>T|103|ATXN3|protein_coding|CODING|NM_001164776.1|3|1),intron_variant(MODIFIER|||c.70-12189C>T|48|ATXN3|protein_coding|CODING|NM_001164777.1|2|1),intron_variant(MODIFIER|||c.190-12189C>T|88|ATXN3|protein_coding|CODING|NM_001164774.1|2|1),intron_variant(MODIFIER|||c.25-12189C>T|33|ATXN3|protein_coding|CODING|NM_001164782.1|1|1),intron_variant(MODIFIER|||n.94-776C>T||ATXN3||CODING|NR_031765.1|1|1),intron_variant(MODIFIER|||n.483-7C>T||ATXN3||CODING|NR_028467.1|5|1),intron_variant(MODIFIER|||n.459-7C>T||ATXN3||CODING|NR_028458.1|5|1),intron_variant(MODIFIER|||n.459-7C>T||ATXN3||CODING|NR_028462.1|5|1),non_coding_exon_variant(MODIFIER|||n.475C>T||ATXN3||CODING|NR_028453.1|6|1),non_coding_exon_variant(MODIFIER|||n.310C>T||ATXN3||CODING|NR_028454.1|5|1),non_coding_exon_variant(MODIFIER|||n.475C>T||ATXN3||CODING|NR_028455.1|6|1),non_coding_exon_variant(MODIFIER|||n.310C>T||ATXN3||CODING|NR_028456.1|5|1),non_coding_exon_variant(MODIFIER|||n.566C>T||ATXN3||CODING|NR_028457.1|7|1),non_coding_exon_variant(MODIFIER|||n.561C>T||ATXN3||CODING|NR_028459.1|7|1),non_coding_exon_variant(MODIFIER|||n.473C>T||ATXN3||CODING|NR_028461.1|6|1),non_coding_exon_variant(MODIFIER|||n.110C>T||ATXN3||CODING|NR_028463.1|2|1),non_coding_exon_variant(MODIFIER|||n.408C>T||ATXN3||CODING|NR_028464.1|5|1),non_coding_exon_variant(MODIFIER|||n.430C>T||ATXN3||CODING|NR_028465.1|5|1),non_coding_exon_variant(MODIFIER|||n.110C>T||ATXN3||CODING|NR_028466.1|2|1),non_coding_exon_variant(MODIFIER|||n.475C>T||ATXN3||CODING|NR_028468.1|6|1),non_coding_exon_variant(MODIFIER|||n.310C>T||ATXN3||CODING|NR_028469.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116480.2,,0.592,0.3905,0.4513,0.54,0.67,0.48,,,,,,,,,,,,,,,,
missense_variant,ATXN3,MISSENSE,NM_004993.5:p.His119Gln/c.357C>G,caC/caG,MODERATE,,,,,0(D),"0.999,0.998,0.999,0.998(D,D,D,D)",3.66(H),0.4257(D),,chr14,92559626,92559626,G,C,het,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His104Gln/c.312C>G|346|ATXN3|protein_coding|CODING|NM_001127696.1|4|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His119Gln/c.357C>G|154|ATXN3|protein_coding|CODING|NM_001164778.1|5|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His49Gln/c.147C>G|291|ATXN3|protein_coding|CODING|NM_001164781.1|3|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His119Gln/c.357C>G|361|ATXN3|protein_coding|CODING|NM_004993.5|5|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His64Gln/c.192C>G|306|ATXN3|protein_coding|CODING|NM_030660.4|4|1),5_prime_UTR_variant(MODIFIER||10086|c.-181C>G|182|ATXN3|protein_coding|CODING|NM_001164780.1|2|1),intron_variant(MODIFIER|||c.234+2811C>G|103|ATXN3|protein_coding|CODING|NM_001164776.1|3|1),intron_variant(MODIFIER|||c.69+2811C>G|48|ATXN3|protein_coding|CODING|NM_001164777.1|2|1),intron_variant(MODIFIER|||c.189+3392C>G|88|ATXN3|protein_coding|CODING|NM_001164774.1|2|1),intron_variant(MODIFIER|||c.24+13247C>G|33|ATXN3|protein_coding|CODING|NM_001164782.1|1|1),intron_variant(MODIFIER|||n.94-10816C>G||ATXN3||CODING|NR_031765.1|1|1),intron_variant(MODIFIER|||n.94-10024C>G||ATXN3||CODING|NR_028463.1|1|1),intron_variant(MODIFIER|||n.94-10024C>G||ATXN3||CODING|NR_028466.1|1|1),intron_variant(MODIFIER|||c.234+2811C>G|310|ATXN3|protein_coding|CODING|NM_001127697.2|3|1),intron_variant(MODIFIER|||n.303+2811C>G||ATXN3||CODING|NR_028464.1|3|1),intron_variant(MODIFIER|||n.303+2811C>G||ATXN3||CODING|NR_028467.1|3|1),intron_variant(MODIFIER|||c.25-4465C>G|240|ATXN3|protein_coding|CODING|NM_001164779.1|1|1),non_coding_exon_variant(MODIFIER|||n.340C>G||ATXN3||CODING|NR_028453.1|4|1),non_coding_exon_variant(MODIFIER|||n.175C>G||ATXN3||CODING|NR_028454.1|3|1),non_coding_exon_variant(MODIFIER|||n.340C>G||ATXN3||CODING|NR_028455.1|4|1),non_coding_exon_variant(MODIFIER|||n.175C>G||ATXN3||CODING|NR_028456.1|3|1),non_coding_exon_variant(MODIFIER|||n.340C>G||ATXN3||CODING|NR_028457.1|4|1),non_coding_exon_variant(MODIFIER|||n.340C>G||ATXN3||CODING|NR_028458.1|4|1),non_coding_exon_variant(MODIFIER|||n.426C>G||ATXN3||CODING|NR_028459.1|5|1),non_coding_exon_variant(MODIFIER|||n.340C>G||ATXN3||CODING|NR_028460.1|4|1),non_coding_exon_variant(MODIFIER|||n.426C>G||ATXN3||CODING|NR_028461.1|5|1),non_coding_exon_variant(MODIFIER|||n.340C>G||ATXN3||CODING|NR_028462.1|4|1),non_coding_exon_variant(MODIFIER|||n.295C>G||ATXN3||CODING|NR_028465.1|3|1),non_coding_exon_variant(MODIFIER|||n.340C>G||ATXN3||CODING|NR_028468.1|4|1),non_coding_exon_variant(MODIFIER|||n.175C>G||ATXN3||CODING|NR_028469.1|3|1),non_coding_exon_variant(MODIFIER|||n.130C>G||ATXN3||CODING|NR_028470.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"-0.26,-0.26,-0.26,-0.26,-0.26,-0.26,-0.26,-0.26,-0.26(T,T,T,T,T,T,T,T,T)",0.5967(D),0.965,4.361344,5.57,4.67,0.650000,2.633000,5.984000,0.993000,1.000000,1.000000,14.8853
synonymous_variant,SLC24A4,SILENT,NM_153646.3:p.Thr58Thr/c.174G>A,acG/acA,LOW,,0.935304,1,rs941646,,,,,,chr14,92792255,92792255,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr58Thr/c.174G>A|622|SLC24A4|protein_coding|CODING|NM_153646.3|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr58Thr/c.174G>A|603|SLC24A4|protein_coding|CODING|NM_153647.3|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||558|SLC24A4|protein_coding|CODING|NM_153648.3|2|1),5_prime_UTR_variant(MODIFIER||19|c.-19G>A|558|SLC24A4|protein_coding|CODING|NM_153648.3|2|1)","NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HeLa-S3:CTCF,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9755,0.999,0.93,0.81,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC24A4,SILENT,NM_153646.3:p.His165His/c.495T>C,caT/caC,LOW,,0.857029,0.9871,rs941650,,,,-1.0149(T),,chr14,92909073,92909073,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His165His/c.495T>C|622|SLC24A4|protein_coding|CODING|NM_153646.3|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His165His/c.495T>C|603|SLC24A4|protein_coding|CODING|NM_153647.3|7|1),synonymous_variant(LOW|SILENT|caT/caC|p.His101His/c.303T>C|558|SLC24A4|protein_coding|CODING|NM_153648.3|6|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8517,0.8184,0.7425,0.78,0.86,0.73,,,0.000(P),,0.0000(T),.,0.361213,4.89,-4.38,-0.726000,-1.358000,-1.951000,0.645000,0.663000,0.000000,16.0825
synonymous_variant,SLC24A4,SILENT,NM_153646.3:p.Pro336Pro/c.1008C>T,ccC/ccT,LOW,COSM1371609(1),0.561102,0.5952,rs7144273,,,,,,chr14,92920371,92920371,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro336Pro/c.1008C>T|622|SLC24A4|protein_coding|CODING|NM_153646.3|11|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro317Pro/c.951C>T|603|SLC24A4|protein_coding|CODING|NM_153647.3|12|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro272Pro/c.816C>T|558|SLC24A4|protein_coding|CODING|NM_153648.3|11|1)",HepG2:H3K27me3,,,,0.4918,0.4092,0.5,0.56,0.67,0.51,,,0.000(P),,,.,1.378955,5.39,4.5,0.591000,1.271000,0.997000,0.996000,1.000000,1.000000,7.6645
synonymous_variant,SLC24A4,SILENT,NM_153646.3:p.Pro401Pro/c.1203G>A,ccG/ccA,LOW,COSM1371611(3),0.171326,0.0724,rs77671856,,,,-1.0179(T),,chr14,92922900,92922900,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro401Pro/c.1203G>A|622|SLC24A4|protein_coding|CODING|NM_153646.3|12|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro382Pro/c.1146G>A|603|SLC24A4|protein_coding|CODING|NM_153647.3|13|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro337Pro/c.1011G>A|558|SLC24A4|protein_coding|CODING|NM_153648.3|12|1)",HepG2:H3K27me3,,,,0.1656,0.2392,0.2445,0.22,0.17,0.25,,,1.000(P),,0.0000(T),.,-1.179173,4.15,1.06,-0.384000,0.388000,-0.606000,0.007000,0.203000,0.000000,6.9551
synonymous_variant,RIN3,SILENT,NM_024832.3:p.Ala268Ala/c.804C>T,gcC/gcT,LOW,COSM4148305(1),0.283946,0.2758,rs3814830,,,,,,chr14,93118198,93118198,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala268Ala/c.804C>T|985|RIN3|protein_coding|CODING|NM_024832.3|6|1),"CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,IMR90:H3K36me3,GM12878:EBF,GM12878:BCL11A,HepG2:H3K36me3,CD4:PolII,CD4:H2BK120ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.3313,0.2911,0.169,0.21,0.32,0.15,,,,,,,,,,,,,,,,
missense_variant,RIN3,MISSENSE,NM_024832.3:p.Thr425Met/c.1274C>T,aCg/aTg,MODERATE,,0.292532,0.4415,rs3742717,0.1(T),"0.031,0.001,0.001,0.004(B,B,B,B)",-0.69(N),-0.9603(T),,chr14,93118668,93118668,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr425Met/c.1274C>T|985|RIN3|protein_coding|CODING|NM_024832.3|6|1),"CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,CD4:PolII,GM12878:H3K9ac,CD4:H2BK120ac,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,,,0.409,0.2767,0.1948,0.17,0.17,0.17,,0.984748(N),1.000(P),3.34(T),0.0000(T),0.018,-0.217068,3.82,-0.538,-0.657000,0.239000,.,0.023000,0.037000,.,2.5115
missense_variant,RIN3,MISSENSE,NM_024832.3:p.Tyr793His/c.2377T>C,Tat/Cat,MODERATE,,0.00159744,0,rs147042536,,,2.715(M),-0.4420(T),,chr14,93142861,93142861,T,C,het,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr793His/c.2377T>C|985|RIN3|protein_coding|CODING|NM_024832.3|8|1),"GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0,0.0029,0.006,0.00,0.00,0.01,,,1.000(D),,0.2251(T),.,4.653323,4.66,4.66,0.260000,1.739000,7.945000,0.965000,1.000000,1.000000,14.1121
synonymous_variant,LGMN,SILENT,NM_001008530.2:p.Pro417Pro/c.1251G>A,ccG/ccA,LOW,COSM3754173(3),0.281949,0.0754,rs9791,,,,,,chr14,93170993,93170993,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro417Pro/c.1251G>A|433|LGMN|protein_coding|CODING|NM_001008530.2|14|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro417Pro/c.1251G>A|433|LGMN|protein_coding|CODING|NM_005606.6|13|1)","H1ESC:H3K36me3,GM12878:BATF,HUVEC:H3K36me3,GM12878:SP1,IMR90:H3K36me3,GM12878:EBF,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:PU1,GM06990:DNase1,GM12878:Tcf12",,,,0.1759,0.5519,0.4245,0.37,0.29,0.41,,,,,,,,,,,,,,,,
synonymous_variant,LGMN,SILENT,NM_001008530.2:p.Asp240Asp/c.720T>C,gaT/gaC,LOW,,0.997005,1,rs1951708,,,,,,chr14,93178191,93178191,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp240Asp/c.720T>C|433|LGMN|protein_coding|CODING|NM_001008530.2|10|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp240Asp/c.720T>C|433|LGMN|protein_coding|CODING|NM_005606.6|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,GOLGA5,MISSENSE,NM_005113.3:p.Phe350Leu/c.1048T>C,Ttt/Ctt,MODERATE,COSM3754177(2),0.859625,0.8323,rs1040835,1(T),0.0(B),-2.045(N),-0.9889(T),,chr14,93276654,93276654,T,C,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe350Leu/c.1048T>C|731|GOLGA5|protein_coding|CODING|NM_005113.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8548,0.8602,0.7465,0.80,0.93,0.73,,0.000526(N),1.000(P),"2.73,2.73(T,T)",0.0000(T),0.068,0.418430,5.63,4.75,-0.186000,0.870000,1.657000,0.931000,0.759000,0.857000,7.4259
synonymous_variant,CHGA,SILENT,NM_001275.3:p.Glu441Glu/c.1323A>G,gaA/gaG,LOW,COSM3754178(2),0.795327,0.9554,rs941581,,,,,,chr14,93401178,93401178,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu441Glu/c.1323A>G|457|CHGA|protein_coding|CODING|NM_001275.3|8|1),"H1ESC:H3K36me3,NHEK:H3K36me3,H1ESC:Nrsf",,,,0.8108,0.7363,0.7177,0.73,0.78,0.70,,,,,,,,,,,,,,,,
synonymous_variant,UNC79,SILENT,NM_020818.3:p.Pro161Pro/c.483G>A,ccG/ccA,LOW,COSM147836(2),0.48762,0.2431,rs28420706,,,,,,chr14,93994954,93994954,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro161Pro/c.483G>A|2458|UNC79|protein_coding|CODING|NM_020818.3|9|1),,,,,0.453,0.6931,0.5636,0.55,0.52,0.57,,,,,,,,,,,,,,,,
synonymous_variant,UNC79,SILENT,NM_020818.3:p.Gly297Gly/c.891C>T,ggC/ggT,LOW,COSM3754182(1),0.485224,0.2113,rs1951716,,,,,,chr14,94007075,94007075,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly297Gly/c.891C>T|2458|UNC79|protein_coding|CODING|NM_020818.3|13|1),HepG2:H3K27me3,,,,0.4939,0.7147,0.6193,0.59,0.49,0.64,,,,,,,,,,,,,,,,
missense_variant,UNC79,MISSENSE,NM_020818.3:p.Val1420Ala/c.4259T>C,gTa/gCa,MODERATE,,0.11861,0.004,rs28670114,0.79(T),0.0(B),0.345(N),-0.9753(T),,chr14,94088369,94088369,T,C,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val1420Ala/c.4259T>C|2458|UNC79|protein_coding|CODING|NM_020818.3|30|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0777,0.134,0.2038,0.17,0.15,0.18,,0.511633(N),1.000(P),"2.3,2.31,2.3,2.3(T,T,T,T)",0.0000(T),0.031,-0.485748,5.85,-10.5,-0.680000,-1.287000,-0.415000,0.230000,0.000000,0.000000,7.1867
missense_variant,UNC79,MISSENSE,NM_020818.3:p.Val1493Ile/c.4477G>A,Gtc/Atc,MODERATE,COSM3754186(1),0.371006,0.38,rs4905081,0.58(T),0.001(B),0.345(N),-0.9216(T),,chr14,94088587,94088587,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1493Ile/c.4477G>A|2458|UNC79|protein_coding|CODING|NM_020818.3|30|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4888,0.5634,0.4821,0.40,0.17,0.52,,0.802126(N),1.000(P),"2.27,2.27,2.27,2.27(T,T,T,T)",0.0000(T),0.049,-2.269817,5.46,-7.75,-0.752000,-1.468000,0.115000,0.010000,0.000000,0.000000,8.0344
synonymous_variant,UNC79,SILENT,NM_020818.3:p.Thr1781Thr/c.5343G>A,acG/acA,LOW,COSM3754188(2),0.505192,0.3849,rs4905082,,,,,,chr14,94103602,94103602,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr1781Thr/c.5343G>A|2458|UNC79|protein_coding|CODING|NM_020818.3|33|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5603,0.6585,0.674,0.58,0.39,0.68,,,,,,,,,,,,,,,,
synonymous_variant,PRIMA1,SILENT,NM_178013.3:p.Ser140Ser/c.420G>A,tcG/tcA,LOW,COSM3754189(1),0.498802,0.3413,rs1887197,,,,,,chr14,94187832,94187832,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser140Ser/c.420G>A|153|PRIMA1|protein_coding|CODING|NM_178013.3|5|1),GM06990:H3K27me3,,,,0.5409,0.6974,0.6332,0.58,0.43,0.66,,,,,,,,,,,,,,,,
missense_variant,FAM181A,MISSENSE,NM_138344.4:p.Ala28Thr/c.82G>A,Gcg/Acg,MODERATE,COSM1685477(2),0.501797,0.6409,rs10141024,0.2(T),0.0(B),0(N),-0.9803(T),,chr14,94391699,94391699,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala28Thr/c.82G>A|354|FAM181A|protein_coding|CODING|NM_138344.4|2|1),upstream_gene_variant(MODIFIER||1989||292|FAM181A|protein_coding|CODING|NM_001207074.1||1),upstream_gene_variant(MODIFIER||1990||292|FAM181A|protein_coding|CODING|NM_001207073.1||1),intron_variant(MODIFIER|||c.-87-2846G>A|292|FAM181A|protein_coding|CODING|NM_001207071.1|1|1),intron_variant(MODIFIER|||n.97+923C>T||FAM181A-AS1||NON_CODING|NR_027004.1|1|1)","GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4847,0.3963,0.5427,0.51,0.46,0.53,,,1.000(P),1.34(T),0.0000(T),0.032,1.029758,2.15,-0.574,0.462000,-0.170000,0.410000,0.029000,0.002000,0.001000,4.632
synonymous_variant,FAM181A,SILENT,NM_138344.4:p.Ser90Ser/c.270C>T,tcC/tcT,LOW,,0.0830671,0.001,rs11554726,,,,,,chr14,94394715,94394715,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser28Ser/c.84C>T|292|FAM181A|protein_coding|CODING|NM_001207071.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser28Ser/c.84C>T|292|FAM181A|protein_coding|CODING|NM_001207072.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser28Ser/c.84C>T|292|FAM181A|protein_coding|CODING|NM_001207073.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser28Ser/c.84C>T|292|FAM181A|protein_coding|CODING|NM_001207074.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser90Ser/c.270C>T|354|FAM181A|protein_coding|CODING|NM_138344.4|3|1),upstream_gene_variant(MODIFIER||1997|||FAM181A-AS1||NON_CODING|NR_027004.1||1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0941,0.0461,0.1173,0.13,0.12,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ASB2,SILENT,NM_001202429.1:p.Ala400Ala/c.1200C>G,gcC/gcG,LOW,COSM3749286(3),0.803914,0.9008,rs10873442,,,,,,chr14,94405871,94405871,G,C,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala400Ala/c.1200C>G|635|ASB2|protein_coding|CODING|NM_001202429.1|8|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala352Ala/c.1056C>G|587|ASB2|protein_coding|CODING|NM_016150.4|6|1)","NHEK:CTCF,H1ESC:H3K36me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,NHEK:H3K27me3,CD4:CTCF,H1ESC:Tcf12,IMR90:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,H1ESC:CTCF",,,,0.7955,0.6427,0.836,0.85,0.83,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ASB2,SILENT,NM_001202429.1:p.Asn268Asn/c.804C>T,aaC/aaT,LOW,COSM3999421(1),0.555112,0.7817,rs7147919,,,,,,chr14,94417421,94417421,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn268Asn/c.804C>T|635|ASB2|protein_coding|CODING|NM_001202429.1|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn220Asn/c.660C>T|587|ASB2|protein_coding|CODING|NM_016150.4|4|1)","GM12878:H3K36me3,NHEK:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.591,0.4769,0.6541,0.56,0.39,0.65,,,,,,,,,,,,,,,,
synonymous_variant,ASB2,SILENT,NM_001202429.1:p.Asn228Asn/c.684T>C,aaT/aaC,LOW,COSM3999422(1),0.811901,0.8988,rs4277287,,,,,,chr14,94417541,94417541,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn228Asn/c.684T>C|635|ASB2|protein_coding|CODING|NM_001202429.1|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn180Asn/c.540T>C|587|ASB2|protein_coding|CODING|NM_016150.4|4|1)","GM12878:H3K36me3,NHEK:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.8344,0.6499,0.8469,0.84,0.80,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ASB2,SILENT,NM_001202429.1:p.Cys213Cys/c.639C>T,tgC/tgT,LOW,COSM3754191(4),0.580072,0.7817,rs4483793,,,,,,chr14,94417586,94417586,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys213Cys/c.639C>T|635|ASB2|protein_coding|CODING|NM_001202429.1|6|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys165Cys/c.495C>T|587|ASB2|protein_coding|CODING|NM_016150.4|4|1)","GM12878:H3K36me3,NHEK:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.591,0.487,0.6541,0.59,0.46,0.65,,,,,,,,,,,,,,,,
synonymous_variant,OTUB2,SILENT,NM_023112.3:p.Asp112Asp/c.336T>C,gaT/gaC,LOW,,0.490216,0.4306,rs2273226,,,,,,chr14,94510964,94510964,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp112Asp/c.336T>C|234|OTUB2|protein_coding|CODING|NM_023112.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.3456,0.5288,0.4076,0.50,0.66,0.42,,,,,,,,,,,,,,,,
synonymous_variant,DDX24,SILENT,NM_020414.3:p.Ala647Ala/c.1941A>G,gcA/gcG,LOW,COSM1162346(1),0.294329,0.3264,rs1056810,,,,,,chr14,94524216,94524216,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala647Ala/c.1941A>G|859|DDX24|protein_coding|CODING|NM_020414.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2689,0.4467,0.3211,0.30,0.23,0.33,,,,,,,,,,,,,,,,
missense_variant,SERPINA10,MISSENSE,NM_001100607.2:p.Gln384Arg/c.1151A>G,cAa/cGa,MODERATE,,0.00259585,0,rs2232710,0.03(D),0.104(B),2.955(M),0.3361(D),,chr14,94750486,94750486,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln384Arg/c.1151A>G|444|SERPINA10|protein_coding|CODING|NM_001100607.2|5|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln384Arg/c.1151A>G|444|SERPINA10|protein_coding|CODING|NM_016186.2|5|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0,0.0129,0.01,0.00,0.01,,0.000011(D),1.000(D),"-2.55,-2.55,-2.55,-2.55(D,D,D,D)",0.6342(D),0.252,2.414369,5.2,5.2,0.454000,1.963000,3.164000,0.731000,0.350000,1.000000,15.0831
missense_variant,SERPINA10,MISSENSE,NM_001100607.2:p.Thr161Ser/c.481A>T,Aca/Tca,MODERATE,,0.286741,0.6042,rs2232700,0.86(T),0.001(B),-0.7(N),-1.0786(T),,chr14,94756450,94756450,T,A,het,"missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr161Ser/c.481A>T|444|SERPINA10|protein_coding|CODING|NM_001100607.2|2|1),missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr161Ser/c.481A>T|444|SERPINA10|protein_coding|CODING|NM_016186.2|2|1)",HepG2:H3K36me3,,,,0.2403,0.134,0.166,0.18,0.23,0.16,,0.191763(N),1.000(P),"-1.73,-1.73,-1.73,-1.73(D,D,D,D)",0.0000(T),0.058,-0.993593,4.97,-9.94,-0.736000,-1.939000,-1.741000,0.074000,0.000000,0.000000,3.7892
missense_variant,SERPINA10,MISSENSE,NM_001100607.2:p.Ser61Gly/c.181A>G,Agt/Ggt,MODERATE,COSM147837(2),0.344848,0.6052,rs386622472,0.33(T),0.0(B),0(N),-0.9772(T),,chr14,94756750,94756750,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser61Gly/c.181A>G|444|SERPINA10|protein_coding|CODING|NM_001100607.2|2|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser61Gly/c.181A>G|444|SERPINA10|protein_coding|CODING|NM_016186.2|2|1)",HepG2:H3K36me3,,,,0.2403,0.1513,0.166,0.24,0.40,0.16,,,1.000(P),"-2.01,-1.97,-1.97,-1.97(D,D,D,D)",0.0000(T),0.029,-2.006494,1.16,-2.32,-2.748000,-2.725000,-4.369000,0.013000,0.005000,0.000000,6.1543
missense_variant,SERPINA10,MISSENSE,NM_001100607.2:p.Lys46Arg/c.137A>G,aAg/aGg,MODERATE,COSM4148318(1),0.627995,0.6558,rs941590,0.53(T),0.0(B),0(N),-0.9477(T),,chr14,94756794,94756794,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys46Arg/c.137A>G|444|SERPINA10|protein_coding|CODING|NM_001100607.2|2|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys46Arg/c.137A>G|444|SERPINA10|protein_coding|CODING|NM_016186.2|2|1)",HepG2:H3K36me3,,,,0.6094,0.4899,0.3618,0.53,0.81,0.39,,0.053885(N),1.000(P),"-1.98,-1.94,-1.94,-1.94(D,D,D,D)",0.0000(T),0.018,0.202249,3.61,-0.49,-0.642000,-0.739000,-3.317000,0.185000,0.000000,0.000000,1.4765
synonymous_variant,SERPINA6,SILENT,NM_001756.3:p.Asp337Asp/c.1011C>T,gaC/gaT,LOW,,0.153754,0.0069,rs2228543,,,,,,chr14,94772429,94772429,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp337Asp/c.1011C>T|405|SERPINA6|protein_coding|CODING|NM_001756.3|4|1),HepG2:H3K36me3,,,,0.1022,0.0965,0.1531,0.21,0.33,0.14,,,,,,,,,,,,,,,,
missense_variant,SERPINA6,MISSENSE,NM_001756.3:p.Ser246Ala/c.736T>G,Tcg/Gcg,MODERATE,COSM3754193(1),0.598043,0.9325,rs2228541,0.07(T),0.01(B),1.205(L),-0.9023(T),,chr14,94776221,94776221,A,C,het,missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser246Ala/c.736T>G|405|SERPINA6|protein_coding|CODING|NM_001756.3|3|1),HepG2:H3K36me3,,,,0.6186,0.6816,0.4364,0.43,0.38,0.45,,0.630684(N),1.000(P),-2.32(D),0.0000(T),0.071,1.979713,5.33,-10.7,-0.313000,-1.670000,-4.329000,0.172000,0.001000,0.000000,0.3477
synonymous_variant,SERPINA6,SILENT,NM_001756.3:p.Ser237Ser/c.711G>A,tcG/tcA,LOW,,,,rs144112380,,,,,,chr14,94776246,94776246,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser237Ser/c.711G>A|405|SERPINA6|protein_coding|CODING|NM_001756.3|3|1),HepG2:H3K36me3,,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,SERPINA2,SILENT,NM_006220.2:p.Thr80Thr/c.240C>T,acC/acT,LOW,,0.0684904,0.002,rs4592582,,,,,,chr14,94832796,94832796,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr80Thr/c.240C>T|325|SERPINA2|protein_coding|CODING|NM_006220.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.244C>T||SERPINA2||CODING|NR_110563.1|1|1)",H1ESC:DNase1,,,,0.0879,0.2349,0.0736,,,,,,,,,,,,,,,,,,,
missense_variant,SERPINA2,MISSENSE,NM_006220.2:p.Ile1Met/c.3A>G,atA/atG,MODERATE,,0.775359,0.9851,rs1956172,,,,,,chr14,94833033,94833033,T,C,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile1Met/c.3A>G|325|SERPINA2|protein_coding|CODING|NM_006220.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),non_coding_exon_variant(MODIFIER|||n.7A>G||SERPINA2||CODING|NR_110563.1|1|1)",H1ESC:CTCF,,,,0.8395,0.8804,0.7903,,,,,,,,,,,,,,,,,,,
missense_variant,SERPINA1,MISSENSE,NM_000295.4:p.Glu400Asp/c.1200A>C,gaA/gaC,MODERATE,COSM147838(4),0.280351,0.3165,rs1303,1(T),0.01(B),-0.17(N),-0.9185(T),,chr14,94844843,94844843,T,G,het,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_000295.4|5|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001002235.2|5|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001002236.2|7|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127700.1|5|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127701.1|7|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127702.1|6|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127703.1|7|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127704.1|7|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127705.1|7|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127706.1|6|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu400Asp/c.1200A>C|418|SERPINA1|protein_coding|CODING|NM_001127707.1|6|1)","HMEC:H3K36me3,H1ESC:H3K27me3,HepG2:PolII,HepG2:HEY1,NHEK:H3K27me3,HepG2:H3K36me3",Metabolite_levels,RCV000019558.1,,0.4755,0.3573,0.2485,0.21,0.11,0.26,,0.167400(N),1.000(P),"-2.13,-2.13,-2.13,-2.13,-2.13,-2.13,-2.13,-2.13(D,D,D,D,D,D,D,D)",0.0000(T),0.09,-0.956393,4.51,-9.02,-1.287000,-1.732000,-4.088000,0.000000,0.000000,0.000000,0.4433
synonymous_variant,SERPINA4,SILENT,NM_001289032.1:p.Phe270Phe/c.810C>T,ttC/ttT,LOW,,0.300519,0.2867,rs386598883,,,,,,chr14,95033356,95033356,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe270Phe/c.810C>T|464|SERPINA4|protein_coding|CODING|NM_001289032.1|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe233Phe/c.699C>T|427|SERPINA4|protein_coding|CODING|NM_001289033.1|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe233Phe/c.699C>T|427|SERPINA4|protein_coding|CODING|NM_006215.3|3|1)","NHEK:H3K27me3,HepG2:H3K36me3",,,,0.3885,0.1787,0.2565,0.27,0.31,0.25,,,,,,,,,,,,,,,,
missense_variant,SERPINA5,MISSENSE,NM_000624.5:p.Ser64Asn/c.191G>A,aGc/aAc,MODERATE,COSM4148328(1),0.621206,0.4266,rs6115,1(T),"0.0,0.0(B,B)",-3.165(N),-0.9427(T),,chr14,95053890,95053890,G,A,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser64Asn/c.191G>A|406|SERPINA5|protein_coding|CODING|NM_000624.5|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4847,0.451,0.6382,0.74,0.89,0.66,,0.000002(N),1.000(P),"-0.6,-0.6,-0.6,-0.6,-0.6,-0.6,-0.6,-0.6,-0.6,-0.6,-0.6(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.199,-1.096347,4.11,4.11,-0.361000,0.745000,6.683000,0.082000,0.278000,1.000000,9.0791
synonymous_variant,SERPINA5,SILENT,NM_000624.5:p.Pro159Pro/c.477T>C,ccT/ccC,LOW,,0.618011,0.4087,rs6112,,,,,,chr14,95054176,95054176,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro159Pro/c.477T>C|406|SERPINA5|protein_coding|CODING|NM_000624.5|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4847,0.4524,0.6372,0.74,0.90,0.66,,,,,,,,,,,,,,,,
synonymous_variant,SERPINA5,SILENT,NM_000624.5:p.Ile369Ile/c.1107A>C,atA/atC,LOW,,0.279952,0.0784,rs6116,,,,,,chr14,95058462,95058462,A,C,het,synonymous_variant(LOW|SILENT|atA/atC|p.Ile369Ile/c.1107A>C|406|SERPINA5|protein_coding|CODING|NM_000624.5|6|1),"CD4:H3K36me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2986,0.2723,0.4781,0.43,0.30,0.49,,,,,,,,,,,,,,,,
missense_variant,SERPINA3,MISSENSE,NM_001085.4:p.Ala9Thr/c.25G>A,Gct/Act,MODERATE,COSM3754201(3),0.399361,0.62,rs4934,0.37(T),"0.019,0.135(B,B)",0.55(N),-0.9706(T),,chr14,95080803,95080803,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala9Thr/c.25G>A|423|SERPINA3|protein_coding|CODING|NM_001085.4|2|1),"HepG2:H3K4me2,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K36me3",,RCV000019667.1,,0.4192,0.2781,0.4871,0.40,0.26,0.48,,0.441646(N),1.000(P),"-2.26,-2.26,-2.26,-2.26(D,D,D,D)",0.0000(T),0.284,2.443510,4.61,-0.687,-0.258000,-0.020000,-0.060000,0.579000,0.006000,0.002000,0.7578
synonymous_variant,SERPINA3,SILENT,NM_001085.4:p.Ala274Ala/c.822A>C,gcA/gcC,LOW,,0.00439297,0,rs112967031,,,,,,chr14,95085710,95085710,A,C,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala274Ala/c.822A>C|423|SERPINA3|protein_coding|CODING|NM_001085.4|3|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0.001,0.0086,0.0149,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,SYNE3,MISSENSE,NM_152592.3:p.Ala923Val/c.2768C>T,gCg/gTg,MODERATE,COSM433554(3),0.55012,0.5,rs12434757,1(T),"0.002,0.003(B,B)",-1.32(N),-0.9435(T),,chr14,95884323,95884323,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala923Val/c.2768C>T|975|SYNE3|protein_coding|CODING|NM_152592.3|17|1),"GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5603,0.5461,0.659,0.62,0.52,0.68,,0.190232(N),0.000(P),"2.14,2.14,2.14(T,T,T)",0.0000(T),0.082,-0.085774,4.67,2.34,-1.115000,-0.092000,1.201000,0.897000,0.703000,0.532000,8.5717
missense_variant,SYNE3,MISSENSE,NM_152592.3:p.Thr668Met/c.2003C>T,aCg/aTg,MODERATE,COSM1477881(5),0.41254,0.6399,rs9671369,0.12(T),"0.899,0.939(P,D)",2.14(M),-0.9116(T),,chr14,95906321,95906321,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr668Met/c.2003C>T|975|SYNE3|protein_coding|CODING|NM_152592.3|11|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.408,0.5562,0.3807,0.32,0.22,0.37,,0.083808(N),0.994(P),"1.38,1.38,1.38(T,T,T)",0.0000(T),0.346,2.802166,4.93,3.9,0.561000,2.435000,0.891000,0.005000,0.025000,0.040000,10.0543
synonymous_variant,SYNE3,SILENT,NM_152592.3:p.Ala555Ala/c.1665A>G,gcA/gcG,LOW,COSM147840(1),0.28155,0.3155,rs9919918,,,,,,chr14,95910933,95910933,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala555Ala/c.1665A>G|975|SYNE3|protein_coding|CODING|NM_152592.3|9|1),"HepG2:H3K4me2,GM12878:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,HepG2:HNF4A,HepG2:DNase1,GM06990:H3K36me3",,,,0.1534,0.4035,0.2078,0.23,0.33,0.19,,,,,,,,,,,,,,,,
synonymous_variant,SYNE3,SILENT,NM_152592.3:p.Pro411Pro/c.1233A>G,ccA/ccG,LOW,COSM4148330(1),0.460863,0.5655,rs4905318,,,,,,chr14,95918625,95918625,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro411Pro/c.1233A>G|975|SYNE3|protein_coding|CODING|NM_152592.3|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.411,0.6023,0.4105,0.41,0.39,0.42,,,,,,,,,,,,,,,,
synonymous_variant,SYNE3,SILENT,NM_152592.3:p.Glu370Glu/c.1110G>A,gaG/gaA,LOW,COSM1477888(5),0.455272,0.5516,rs4905324,,,,,,chr14,95921741,95921741,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu370Glu/c.1110G>A|975|SYNE3|protein_coding|CODING|NM_152592.3|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4949,0.6542,0.501,0.43,0.27,0.51,,,,,,,,,,,,,,,,
synonymous_variant,SYNE3,SILENT,NM_152592.3:p.Arg211Arg/c.633T>G,cgT/cgG,LOW,,0.624002,0.5813,rs2024863,,,,,,chr14,95923670,95923670,A,C,het,synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg211Arg/c.633T>G|975|SYNE3|protein_coding|CODING|NM_152592.3|4|1),"CD4:H4K91ac,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.5307,0.6873,0.508,0.59,0.74,0.51,,,,,,,,,,,,,,,,
missense_variant,GLRX5,MISSENSE,NM_016417.2:p.Ala146Thr/c.436G>A,Gcc/Acc,MODERATE,COSM3754210(1),0.0830671,0.0218,rs11628901,0.18(T),0.082(B),1.3(L),-1.0602(T),,chr14,96010424,96010424,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala146Thr/c.436G>A|157|GLRX5|protein_coding|CODING|NM_016417.2|2|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1227,0.1153,0.1362,0.12,0.06,0.15,,0.000037(D),0.000(P),1.27(T),0.0003(T),0.173,3.822386,5.02,4.11,0.491000,1.079000,7.191000,0.931000,0.989000,1.000000,12.8273
missense_variant,TCL1B,MISSENSE,NM_004918.3:p.Gly93Arg/c.277G>A,Ggg/Agg,MODERATE,COSM1371885(4),0.262181,0.0873,rs1064017,0.91(T),0.347(B),1.445(L),-0.9647(T),,chr14,96157187,96157187,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly93Arg/c.277G>A|128|TCL1B|protein_coding|CODING|NM_004918.3|2|1),"H1ESC:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2648,0.3372,0.4105,0.39,0.29,0.45,,,1.000(P),1.67(T),0.0000(T),0.089,2.369441,3.29,0.758,0.462000,0.160000,0.137000,0.003000,0.000000,0.000000,2.3513
missense_variant,BDKRB2,MISSENSE,NM_000623.3:p.Arg14Cys/c.40C>T,Cgt/Tgt,MODERATE,COSM3736123(1),0.0425319,0.002,rs1046248,0.16(T),0.142(B),0(N),-1.0161(T),,chr14,96703484,96703484,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg14Cys/c.40C>T|391|BDKRB2|protein_coding|CODING|NM_000623.3|2|1),"GM06990:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0123,0.0548,0.0865,0.08,0.05,0.10,,0.042183(N),1.000(P),"-0.64,-0.64,1.69(T,T,T)",0.0051(T),0.116,2.529529,3.71,1.77,0.655000,0.489000,0.961000,0.006000,0.000000,0.014000,5.1894
synonymous_variant,BDKRB2,SILENT,NM_000623.3:p.Thr264Thr/c.792A>G,acA/acG,LOW,,0.859026,0.8194,rs5224,,,,,,chr14,96707457,96707457,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr264Thr/c.792A>G|391|BDKRB2|protein_coding|CODING|NM_000623.3|3|1),"GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.7106,0.9063,0.832,0.88,0.97,0.84,,,,,,,,,,,,,,,,
synonymous_variant,BDKRB1,SILENT,NM_000710.3:p.Pro41Pro/c.123A>G,ccA/ccG,LOW,,0.834265,0.7798,rs2071084,,,,,,chr14,96730142,96730142,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro41Pro/c.123A>G|353|BDKRB1|protein_coding|CODING|NM_000710.3|3|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7566,0.8343,0.84,0.87,0.91,0.85,,,,,,,,,,,,,,,,
missense_variant,ATG2B,MISSENSE,NM_018036.5:p.Ile1567Thr/c.4700T>C,aTa/aCa,MODERATE,,0.89357,0.7629,rs2289622,0.89(T),0.0(B),-1.955(N),-1.0019(T),,chr14,96771959,96771959,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile1567Thr/c.4700T>C|2078|ATG2B|protein_coding|CODING|NM_018036.5|31|1),"NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8282,0.9294,0.9881,0.98,0.95,0.99,,0.286818(N),1.000(P),3.16(T),0.0000(T),0.038,-0.505895,5.41,4.51,-0.186000,1.284000,1.716000,0.975000,0.941000,0.619000,9.2721
missense_variant,ATG2B,MISSENSE,NM_018036.5:p.Gln1383Glu/c.4147C>G,Caa/Gaa,MODERATE,COSM3754211(1),0.2498,0.1776,rs3759601,1(T),0.004(B),1.265(L),-0.9441(T),,chr14,96777468,96777468,G,C,het,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1383Glu/c.4147C>G|2078|ATG2B|protein_coding|CODING|NM_018036.5|28|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.4568,0.4066,0.34,0.17,0.42,,0.306432(N),1.000(P),0.93(T),0.0000(T),0.045,0.228002,5.48,2.55,0.655000,0.241000,1.403000,0.840000,0.000000,0.016000,8.8268
missense_variant,ATG2B,MISSENSE,NM_018036.5:p.Asn1124Asp/c.3370A>G,Aat/Gat,MODERATE,,0.90655,0.7629,rs9323945,1(T),0.0(B),-1.995(N),-0.9579(T),,chr14,96781912,96781912,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn1124Asp/c.3370A>G|2078|ATG2B|protein_coding|CODING|NM_018036.5|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8282,0.9323,0.9881,0.99,1.00,0.99,,0.000064(N),1.000(P),3.03(T),0.0000(T),0.004,0.008370,5.19,5.19,-0.186000,1.207000,3.826000,0.684000,0.991000,1.000000,13.9619
synonymous_variant,ATG2B,SILENT,NM_018036.5:p.His573His/c.1719C>T,caC/caT,LOW,,0.84405,0.5546,rs1822372,,,,,,chr14,96797724,96797724,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His573His/c.1719C>T|2078|ATG2B|protein_coding|CODING|NM_018036.5|11|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8231,0.8847,0.9841,0.98,0.96,0.99,,,,,,,,,,,,,,,,
synonymous_variant,ATG2B,SILENT,NM_018036.5:p.Ser8Ser/c.24C>T,tcC/tcT,LOW,,0.479433,0.4276,rs12434329,,,,,,chr14,96829290,96829290,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser8Ser/c.24C>T|2078|ATG2B|protein_coding|CODING|NM_018036.5|1|1),upstream_gene_variant(MODIFIER||499||139|GSKIP|protein_coding|CODING|NM_001271905.1||1),upstream_gene_variant(MODIFIER||499||139|GSKIP|protein_coding|CODING|NM_001271906.1||1),upstream_gene_variant(MODIFIER||499||139|GSKIP|protein_coding|CODING|NM_016472.4||1),upstream_gene_variant(MODIFIER||1783||139|GSKIP|protein_coding|CODING|NM_001271904.1||1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.4724,0.6873,0.6839,0.60,0.38,0.71,,,,,,,,,,,,,,,,
missense_variant,AK7,MISSENSE,NM_152327.3:p.Arg102Gln/c.305G>A,cGa/cAa,MODERATE,COSM3754213(1),0.213458,0.1944,rs2275554,0.23(T),0.037(B),0.935(L),-1.0329(T),,chr14,96871104,96871104,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg102Gln/c.305G>A|723|AK7|protein_coding|CODING|NM_152327.3|3|1),IMR90:H3K27me3,,,,0.1922,0.1657,0.2684,0.25,0.23,0.25,,0.000951(N),0.000(P),1.01(T),0.0000(T),0.162,1.360434,5.35,4.47,0.467000,1.270000,3.268000,0.094000,0.190000,1.000000,12.998
missense_variant,AK7,MISSENSE,NM_152327.3:p.Asn389Lys/c.1167C>G,aaC/aaG,MODERATE,,0.884585,0.9524,rs2369679,1(T),0.001(B),-1.49(N),-1.0023(T),,chr14,96922752,96922752,C,G,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn389Lys/c.1167C>G|723|AK7|protein_coding|CODING|NM_152327.3|11|1),"K562:H3K27me3,NHEK:H3K27me3",,,,0.8272,0.8069,0.8091,0.87,0.95,0.83,,0.000100(N),0.000(P),1.45(T),0.0000(T),0.061,-2.162887,4.7,-0.452,-0.357000,-0.445000,-0.055000,0.054000,0.001000,0.002000,6.1754
synonymous_variant,VRK1,SILENT,NM_003384.2:p.Ala15Ala/c.45A>G,gcA/gcG,LOW,COSM3754214(1),0.289537,0.1161,rs2145635,,,,,,chr14,97299853,97299853,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala15Ala/c.45A>G|396|VRK1|protein_coding|CODING|NM_003384.2|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118847.2,,0.4315,0.3401,0.3936,0.33,0.21,0.39,,,,,,,,,,,,,,,,
missense_variant,C14orf177,MISSENSE,NM_182560.2:p.Arg3Trp/c.7C>T,Cgg/Tgg,MODERATE,,0.086262,0.1161,rs17097718,0(D),0.157(B),0(N),-1.0710(T),,chr14,99182535,99182535,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg3Trp/c.7C>T|125|C14orf177|protein_coding|CODING|NM_182560.2|3|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1881,0.0749,0.0716,0.04,0.01,0.06,,,1.000(P),"1.02,0.92(T,T)",0.0007(T),0.047,-0.422577,2.72,-0.367,-2.589000,-0.382000,-3.072000,0.000000,0.000000,0.000000,5.3624
synonymous_variant,CCDC85C,SILENT,NM_001144995.1:p.Ser185Ser/c.555C>T,agC/agT,LOW,COSM3753774(1),0.817492,0.9851,rs8007401,,,,,,chr14,100069742,100069742,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser185Ser/c.555C>T|419|CCDC85C|protein_coding|CODING|NM_001144995.1|1|1),"K562:Max,HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HepG2:H3K4me3,HeLa-S3:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.908,0.8948,0.8837,,,,,,,,,,,,,,,,,,,
synonymous_variant,HHIPL1,SILENT,NM_001127258.1:p.Pro539Pro/c.1617G>A,ccG/ccA,LOW,,0.0323482,0.005,rs34890784,,,,,,chr14,100129327,100129327,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro539Pro/c.1617G>A|782|HHIPL1|protein_coding|CODING|NM_001127258.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro539Pro/c.1617G>A|608|HHIPL1|protein_coding|CODING|NM_032425.4|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0491,0.0346,0.0785,0.06,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,DEGS2,SILENT,NM_206918.2:p.Thr155Thr/c.465A>G,acA/acG,LOW,COSM3721448(2),0.897165,0.996,rs4905936,,,,,,chr14,100615665,100615665,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr155Thr/c.465A>G|323|DEGS2|protein_coding|CODING|NM_206918.2|2|1),"CD4:H2BK5me1,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8456,0.9207,0.8926,0.87,0.86,0.88,,,,,,,,,,,,,,,,
missense_variant,DEGS2,MISSENSE,NM_206918.2:p.Ser8Asn/c.23G>A,aGc/aAc,MODERATE,COSM3753776(4),0.767173,0.7282,rs7157599,0.5(T),0.001(B),0.285(N),-1.0234(T),,chr14,100625902,100625902,C,T,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser8Asn/c.23G>A|323|DEGS2|protein_coding|CODING|NM_206918.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,GM12878:ZEB1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1",Sudden_cardiac_arrest,,,0.7474,0.768,0.6948,0.79,0.86,0.75,,0.594331(N),1.000(P),"1.03,1.03(T,T)",0.0000(T),0.002,1.172237,4.72,0.456,-0.336000,-0.209000,-0.317000,0.532000,0.990000,0.085000,5.1779
synonymous_variant,SLC25A29,SILENT,NM_001039355.2:p.Thr162Thr/c.486G>T,acG/acT,LOW,COSM432664(2),0.530351,0.7083,rs3825555,,,,,,chr14,100759046,100759046,C,A,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr162Thr/c.486G>T|303|SLC25A29|protein_coding|CODING|NM_001039355.2|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr96Thr/c.288G>T|237|SLC25A29|protein_coding|CODING|NM_001291813.1|5|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr96Thr/c.288G>T|237|SLC25A29|protein_coding|CODING|NM_001291814.1|5|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr96Thr/c.288G>T|237|SLC25A29|protein_coding|CODING|NM_152333.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4479,0.6081,0.5676,0.52,0.44,0.57,,,,,,,,,,,,,,,,
missense_variant,SLC25A47,MISSENSE,NM_207117.2:p.Arg135Leu/c.404G>T,cGg/cTg,MODERATE,COSM432666(1),0.327276,0.2262,rs35007880,0.68(T),0.541(P),1.01(L),-0.9439(T),,chr14,100795139,100795139,G,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg135Leu/c.404G>T|308|SLC25A47|protein_coding|CODING|NM_207117.2|5|1),"HepG2:H3K4me2,HepG2:PolII,HepG2:HEY1,HepG2:HNF4A,HepG2:H3K4me3,HepG2:TAF1,HepG2:DNase1",,,,0.6575,0.3127,0.492,0.35,0.10,0.48,,0.042002(N),0.000(P),-1.52(D),0.0000(T),0.249,0.907281,4.89,3.93,0.491000,2.262000,1.603000,0.463000,0.930000,0.942000,3.1999
synonymous_variant,WARS,SILENT,NM_004184.3:p.Leu335Leu/c.1003C>T,Ctg/Ttg,LOW,,0.692692,0.755,rs9453,,,,,,chr14,100808845,100808845,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu335Leu/c.1003C>T|471|WARS|protein_coding|CODING|NM_004184.3|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu335Leu/c.1003C>T|471|WARS|protein_coding|CODING|NM_173701.1|9|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu294Leu/c.880C>T|430|WARS|protein_coding|CODING|NM_213645.1|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu294Leu/c.880C>T|430|WARS|protein_coding|CODING|NM_213646.1|8|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K4me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7975,0.8372,0.7644,0.66,0.49,0.74,,,,,,,,,,,,,,,,
missense_variant,WDR25,MISSENSE,NM_001161476.1:p.Trp88Arg/c.262T>C,Tgg/Cgg,MODERATE,,0.998602,1,rs2181170,0.79(T),0.0(B),-0.14(N),-0.9943(T),,chr14,100847523,100847523,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp88Arg/c.262T>C|544|WDR25|protein_coding|CODING|NM_001161476.1|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp88Arg/c.262T>C|544|WDR25|protein_coding|CODING|NM_024515.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.492635(N),1.000(P),"-0.15,-0.15,-0.15,1.95(T,T,T,T)",0.0000(T),0.046,-0.603116,5.53,0.938,-0.119000,0.029000,-0.210000,0.226000,0.000000,0.000000,4.2161
missense_variant,WDR25,MISSENSE,NM_001161476.1:p.His149Arg/c.446A>G,cAt/cGt,MODERATE,COSM3999149(1),0.646965,0.4742,rs2273800,0.54(T),0.0(B),-0.345(N),-0.9665(T),,chr14,100847707,100847707,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His149Arg/c.446A>G|544|WDR25|protein_coding|CODING|NM_001161476.1|2|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His149Arg/c.446A>G|544|WDR25|protein_coding|CODING|NM_024515.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8589,0.4597,0.7266,0.72,0.67,0.75,,0.016632(N),1.000(P),"0.31,0.31,0.31,2.32(T,T,T,T)",0.0000(T),0.031,0.320138,5.0,-1.17,-1.082000,-0.751000,0.387000,0.000000,0.000000,0.000000,5.8489
synonymous_variant,WDR25,SILENT,NM_001161476.1:p.Pro223Pro/c.669A>G,ccA/ccG,LOW,,0.646166,0.4742,rs3742387,,,,,,chr14,100847930,100847930,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro223Pro/c.669A>G|544|WDR25|protein_coding|CODING|NM_001161476.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro223Pro/c.669A>G|544|WDR25|protein_coding|CODING|NM_024515.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8681,0.4597,0.7276,0.72,0.66,0.75,,,,,,,,,,,,,,,,
synonymous_variant,BEGAIN,SILENT,NM_001159531.1:p.Ala291Ala/c.873A>G,gcA/gcG,LOW,COSM3753778(7),0.650958,0.7093,rs12893951,,,,,,chr14,101005215,101005215,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala291Ala/c.873A>G|593|BEGAIN|protein_coding|CODING|NM_001159531.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala291Ala/c.873A>G|593|BEGAIN|protein_coding|CODING|NM_020836.3|7|1)",,,,,0.409,0.6254,0.4274,0.57,0.88,0.41,,,,,,,,,,,,,,,,
synonymous_variant,BEGAIN,SILENT,NM_001159531.1:p.His284His/c.852T>C,caT/caC,LOW,COSM1748690(7),0.644169,0.7054,rs12892571,,,,,,chr14,101005236,101005236,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His284His/c.852T>C|593|BEGAIN|protein_coding|CODING|NM_001159531.1|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His284His/c.852T>C|593|BEGAIN|protein_coding|CODING|NM_020836.3|7|1)",,,,,0.3967,0.621,0.4115,0.56,0.88,0.39,,,,,,,,,,,,,,,,
missense_variant,DLK1,MISSENSE,NM_003836.5:p.Arg101Gly/c.301A>G,Agg/Ggg,MODERATE,,0.996805,1,rs6575799,1(T),"0.0,0.0(B,B)",-3.455(N),-0.9364(T),,chr14,101198417,101198417,A,G,hom,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg101Gly/c.301A>G|383|DLK1|protein_coding|CODING|NM_003836.5|4|1),"HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.039283(N),1.000(P),"-1.59,-1.59(D,D)",0.0000(T),0.133,-1.938251,4.55,1.36,-0.119000,0.036000,0.587000,0.008000,0.013000,0.046000,4.8964
missense_variant,RTL1,MISSENSE,NM_001134888.2:p.Glu848Gln/c.2542G>C,Gag/Cag,MODERATE,,0.200879,0.3482,rs11623267,0.22(T),0.737(P),1.77(L),-0.9686(T),,chr14,101348584,101348584,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu848Gln/c.2542G>C|1358|RTL1|protein_coding|CODING|NM_001134888.2|1|1),upstream_gene_variant(MODIFIER||732|||MIR127||NON_CODING|NR_029696.1||1),downstream_gene_variant(MODIFIER||1127|||MIR431||NON_CODING|NR_029965.1||1),downstream_gene_variant(MODIFIER||269|||MIR433||NON_CODING|NR_029966.1||1)","NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1697,0.1455,0.2654,,,,,0.119389(N),0.699(P),0.66(T),0.0000(T),0.245,1.629661,3.33,3.33,0.561000,2.180000,3.624000,0.297000,0.816000,0.992000,12.9629
synonymous_variant,RTL1,SILENT,NM_001134888.2:p.Phe703Phe/c.2109T>C,ttT/ttC,LOW,,0.645767,0.4504,rs6575805,,,,,,chr14,101349017,101349017,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe703Phe/c.2109T>C|1358|RTL1|protein_coding|CODING|NM_001134888.2|1|1),upstream_gene_variant(MODIFIER||299|||MIR127||NON_CODING|NR_029696.1||1),upstream_gene_variant(MODIFIER||1803|||MIR432||NON_CODING|NR_030173.1||1),downstream_gene_variant(MODIFIER||1560|||MIR431||NON_CODING|NR_029965.1||1),downstream_gene_variant(MODIFIER||702|||MIR433||NON_CODING|NR_029966.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.5031,0.5576,0.7734,0.79,0.84,0.76,,,,,,,,,,,,,,,,
synonymous_variant,RTL1,SILENT,NM_001134888.2:p.Glu276Glu/c.828A>G,gaA/gaG,LOW,COSM4147819(1),0.512181,0.4206,rs3825569,,,,,,chr14,101350298,101350298,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu276Glu/c.828A>G|1358|RTL1|protein_coding|CODING|NM_001134888.2|1|1),upstream_gene_variant(MODIFIER||522|||MIR432||NON_CODING|NR_030173.1||1),upstream_gene_variant(MODIFIER||741|||MIR136||NON_CODING|NR_029699.1||1),downstream_gene_variant(MODIFIER||1983|||MIR433||NON_CODING|NR_029966.1||1),downstream_gene_variant(MODIFIER||886|||MIR127||NON_CODING|NR_029696.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3998,0.4337,0.6402,0.63,0.63,0.63,,,,,,,,,,,,,,,,
synonymous_variant,DYNC1H1,SILENT,NM_001376.4:p.Pro208Pro/c.624G>A,ccG/ccA,LOW,,0.208466,0.4405,rs3818188,,,,,,chr14,102446161,102446161,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro208Pro/c.624G>A|4646|DYNC1H1|protein_coding|CODING|NM_001376.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116919.1|RCV000124851.1,,0.1411,0.3357,0.1958,0.14,0.05,0.19,,,,,,,,,,,,,,,,
synonymous_variant,HSP90AA1,SILENT,NM_001017963.2:p.Asn482Asn/c.1446C>T,aaC/aaT,LOW,COSM3753782(1),0.684505,0.8026,rs4947,,,,,,chr14,102550803,102550803,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn482Asn/c.1446C>T|854|HSP90AA1|protein_coding|CODING|NM_001017963.2|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn360Asn/c.1080C>T|732|HSP90AA1|protein_coding|CODING|NM_005348.3|6|1)","H1ESC:H3K36me3,K562:H3K4me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.8323,0.8415,0.841,0.68,0.36,0.84,,,,,,,,,,,,,,,,
synonymous_variant,HSP90AA1,SILENT,NM_001017963.2:p.Thr94Thr/c.282C>T,acC/acT,LOW,COSM3753784(1),0.664537,0.7708,rs10873531,,,,,,chr14,102568296,102568296,G,A,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr94Thr/c.282C>T|854|HSP90AA1|protein_coding|CODING|NM_001017963.2|2|1),NHEK:H3K36me3,,,,0.7219,0.853,0.8807,0.70,0.37,0.87,,,,,,,,,,,,,,,,
missense_variant,HSP90AA1,MISSENSE,NM_001017963.2:p.Met71Leu/c.211A>T,Atg/Ttg,MODERATE,,0.801118,0.8194,rs8005905,0(D),0.0(B),0(N),-0.9633(T),,chr14,102568367,102568367,T,A,hom,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met71Leu/c.211A>T|854|HSP90AA1|protein_coding|CODING|NM_001017963.2|2|1),NHEK:H3K36me3,,,,0.8773,0.9207,0.8976,0.82,0.67,0.89,,,1.000(P),3.06(T),0.0000(T),0.018,-2.230415,1.46,-2.93,-3.168000,-3.338000,-1.596000,0.003000,0.000000,0.000000,0.9125
missense_variant,ZNF839,MISSENSE,NM_018335.4:p.Leu118Pro/c.353T>C,cTc/cCc,MODERATE,COSM3999159(2),0.41853,0.3403,rs7158731,1(T),"0.0,0.0,0.0(B,B,B)",-1.39(N),-0.9544(T),,chr14,102792386,102792386,T,C,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu2Pro/c.5T>C|811|ZNF839|protein_coding|CODING|NM_001267827.1|2|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu2Pro/c.5T>C|811|ZNF839|protein_coding|CODING|NM_001267828.1|2|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu118Pro/c.353T>C|927|ZNF839|protein_coding|CODING|NM_018335.4|2|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.4179,0.171,0.31,0.62,0.17,,,1.000(P),"2.37,1.95(T,T)",0.0000(T),0.106,0.085278,5.05,4.15,-0.234000,0.549000,1.518000,0.011000,0.003000,0.003000,8.822
missense_variant,ZNF839,MISSENSE,NM_018335.4:p.Asp200Asn/c.598G>A,Gat/Aat,MODERATE,COSM3999160(1),0.418131,0.3403,rs7158139,1(T),"0.0,0.0,0.0(B,B,B)",-0.755(N),-0.9895(T),,chr14,102792631,102792631,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp84Asn/c.250G>A|811|ZNF839|protein_coding|CODING|NM_001267827.1|2|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp84Asn/c.250G>A|811|ZNF839|protein_coding|CODING|NM_001267828.1|2|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp200Asn/c.598G>A|927|ZNF839|protein_coding|CODING|NM_018335.4|2|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.415,0.171,0.31,0.63,0.17,,0.683141(N),1.000(P),"1.3,1.3(T,T)",0.0000(T),0.015,-0.702287,5.08,-6.29,-3.173000,-2.202000,-0.150000,0.000000,0.000000,0.000000,6.9775
missense_variant,ZNF839,MISSENSE,NM_018335.4:p.Ala430Thr/c.1288G>A,Gca/Aca,MODERATE,COSM3999162(1),0.167133,0.2986,rs1543540,0.21(T),"0.0,0.018,0.026(B,B,B)",0(N),-0.9816(T),,chr14,102798055,102798055,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala314Thr/c.940G>A|811|ZNF839|protein_coding|CODING|NM_001267827.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala314Thr/c.940G>A|811|ZNF839|protein_coding|CODING|NM_001267828.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala430Thr/c.1288G>A|927|ZNF839|protein_coding|CODING|NM_018335.4|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1135,0.3026,0.0586,0.07,0.12,0.05,,,1.000(P),"1.1,1.1(T,T)",0.0000(T),0.226,-0.033262,4.13,-2.76,-1.147000,-0.558000,-0.118000,0.001000,0.000000,0.000000,1.5751
missense_variant,TECPR2,MISSENSE,NM_014844.3:p.Val320Ile/c.958G>A,Gtt/Att,MODERATE,COSM147848(1),0.860423,0.6746,rs1309353,1(T),0.0(B),-0.44(N),-0.9824(T),,chr14,102894593,102894593,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val320Ile/c.958G>A|1267|TECPR2|protein_coding|CODING|NM_001172631.1|7|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val320Ile/c.958G>A|1411|TECPR2|protein_coding|CODING|NM_014844.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9202,0.6888,0.9364,0.97,0.98,0.96,,0.000022(N),1.000(P),5.04(T),0.0000(T),0.041,0.073354,5.31,1.29,-0.360000,-0.258000,1.316000,0.976000,0.979000,0.909000,9.3878
missense_variant,TECPR2,MISSENSE,NM_014844.3:p.Leu684Val/c.2050C>G,Cta/Gta,MODERATE,,0.0319489,0,rs45467297,,"0.004,0.004(B,B)",0.895(L),-1.0126(T),,chr14,102901204,102901204,C,G,het,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu684Val/c.2050C>G|1267|TECPR2|protein_coding|CODING|NM_001172631.1|9|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu684Val/c.2050C>G|1411|TECPR2|protein_coding|CODING|NM_014844.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0821,0.0408,0.03,0.01,0.04,,0.124831(N),1.000(N),2.43(T),0.0017(T),0.117,0.873459,5.0,1.67,0.555000,0.528000,0.214000,0.017000,0.001000,0.000000,9.8437
synonymous_variant,RCOR1,SILENT,NM_015156.3:p.Thr189Thr/c.567C>A,acC/acA,LOW,,0.0061901,0,rs149418829,,,,,,chr14,103173756,103173756,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr189Thr/c.567C>A|485|RCOR1|protein_coding|CODING|NM_015156.3|5|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0202,0.0129,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,TRAF3,SILENT,NM_003300.3:p.Pro63Pro/c.189G>A,ccG/ccA,LOW,,0.00459265,0,rs142350527,,,,,,chr14,103336727,103336727,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro63Pro/c.189G>A|485|TRAF3|protein_coding|CODING|NM_001199427.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro63Pro/c.189G>A|568|TRAF3|protein_coding|CODING|NM_003300.3|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro63Pro/c.189G>A|568|TRAF3|protein_coding|CODING|NM_145725.2|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro63Pro/c.189G>A|543|TRAF3|protein_coding|CODING|NM_145726.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0159,0.0119,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,TRAF3,MISSENSE,NM_003300.3:p.Met129Thr/c.386T>C,aTg/aCg,MODERATE,,0.469848,0.3978,rs1131877,0.6(T),"0.0,0.0,0.0(B,B,B)",-1.005(N),-1.0245(T),,chr14,103342049,103342049,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met129Thr/c.386T>C|485|TRAF3|protein_coding|CODING|NM_001199427.1|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met129Thr/c.386T>C|568|TRAF3|protein_coding|CODING|NM_003300.3|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met129Thr/c.386T>C|568|TRAF3|protein_coding|CODING|NM_145725.2|5|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met129Thr/c.386T>C|543|TRAF3|protein_coding|CODING|NM_145726.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.4856,0.2475,0.43,0.82,0.23,,0.191649(N),1.000(P),"1.88,1.88,1.88,1.88(T,T,T,T)",0.0000(T),0.049,-1.475064,5.51,3.64,-0.119000,0.354000,2.369000,0.304000,0.000000,0.030000,8.278
synonymous_variant,CDC42BPB,SILENT,NM_006035.3:p.Leu507Leu/c.1521C>G,ctC/ctG,LOW,,0.590855,0.5764,rs8009219,,,,,,chr14,103440473,103440473,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu507Leu/c.1521C>G|1711|CDC42BPB|protein_coding|CODING|NM_006035.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7147,0.6758,0.659,0.59,0.47,0.65,,,,,,,,,,,,,,,,
missense_variant,EXOC3L4,MISSENSE,NM_001077594.1:p.Arg77Trp/c.229C>T,Cgg/Tgg,MODERATE,COSM432701(2),0.213259,0.2579,rs2297067,0.05(D),0.828(P),0.975(L),-1.0974(T),,chr14,103566785,103566785,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg77Trp/c.229C>T|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|1|1),"HepG2:RXRA,HepG2:H3K4me2,HeLa-S3:DNase1,HepG2:p300,K562:H3K36me3,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HepG2:HEY1,GM12878:SP1,GM12878:EBF,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:DNase1,HepG2:H3K27me3,GM12878:PU1",Platelet_counts,,,0.3108,0.1974,0.2376,0.20,0.12,0.24,,0.754920(N),1.000(P),3.11(T),0.0000(T),0.271,2.531819,3.06,-6.12,-1.401000,-1.798000,-0.705000,0.053000,0.000000,0.000000,6.053
missense_variant,EXOC3L4,MISSENSE,NM_001077594.1:p.Leu185His/c.554T>A,cTt/cAt,MODERATE,COSM3753792(3),0.264976,0.2579,rs10131298,0.04(D),0.01(B),-1.67(N),-0.9136(T),,chr14,103568614,103568614,T,A,het,missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu185His/c.554T>A|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:Nrsf",,,,0.3129,0.2046,0.2366,0.25,0.26,0.24,,0.000454(N),0.659(P),2.88(T),0.0000(T),0.188,1.908509,4.11,2.94,-0.376000,0.153000,0.603000,0.694000,0.990000,0.976000,3.2884
synonymous_variant,EXOC3L4,SILENT,NM_001077594.1:p.Glu223Glu/c.669A>G,gaA/gaG,LOW,,0.528355,0.6042,rs10142200,,,,,,chr14,103568729,103568729,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu223Glu/c.669A>G|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:Nrsf",,,,0.5378,0.5303,0.3917,0.42,0.51,0.37,,,,,,,,,,,,,,,,
synonymous_variant,EXOC3L4,SILENT,NM_001077594.1:p.Pro307Pro/c.921A>C,ccA/ccC,LOW,COSM3749260(2),0.214257,0.2579,rs77071436,,,,,,chr14,103568981,103568981,A,C,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro307Pro/c.921A>C|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3119,0.1931,0.2396,0.16,0.09,0.19,,,,,,,,,,,,,,,,
missense_variant,EXOC3L4,MISSENSE,NM_001077594.1:p.Ala376Ser/c.1126G>T,Gcc/Tcc,MODERATE,,0.0916534,0.2609,rs117708804,0.64(T),0.055(B),1.95(M),-0.9716(T),,chr14,103570354,103570354,G,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala376Ser/c.1126G>T|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|3|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:Max,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,NH-A:H3K27me3,HUVEC:DNase1,HSMM:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HepG2:HNF4A,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HeLa-S3:E2F1,HepG2:Jund",,,,0.0879,0.121,0.0239,0.01,0.01,0.00,,0.159303(N),0.953(P),3.36(T),0.0000(T),0.209,0.967894,3.59,3.59,0.555000,2.021000,2.416000,0.480000,0.989000,0.995000,10.9163
synonymous_variant,EXOC3L4,SILENT,NM_001077594.1:p.Ala668Ala/c.2004G>A,gcG/gcA,LOW,COSM1748707(2),0.313099,0.4196,rs729185,,,,,,chr14,103576395,103576395,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala668Ala/c.2004G>A|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|11|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4me1,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:FOSL2,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HeLa-S3:Cfos,H1ESC:Jund,HeLa-S3:H3K4me3,HepG2:DNase1,HepG2:Jund",,,,0.2628,0.4236,0.1322,0.18,0.29,0.12,,,,,,,,,,,,,,,,
missense_variant,EXOC3L4,MISSENSE,NM_001077594.1:p.Gln675Arg/c.2024A>G,cAg/cGg,MODERATE,,0.771166,0.7341,rs729184,1(T),0.0(B),-2.015(N),-1.0093(T),,chr14,103576415,103576415,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln675Arg/c.2024A>G|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|11|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4me1,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:FOSL2,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HeLa-S3:Cfos,H1ESC:Jund,HeLa-S3:H3K4me3,HepG2:DNase1,HepG2:Jund",,,,0.8742,0.7363,0.9155,0.85,0.70,0.92,,0.005123(N),1.000(P),3.31(T),0.0000(T),0.183,-1.466122,4.05,4.05,-0.366000,1.085000,2.005000,0.055000,0.165000,0.116000,8.0739
synonymous_variant,EXOC3L4,SILENT,NM_001077594.1:p.Thr684Thr/c.2052T>C,acT/acC,LOW,COSM3753793(1),0.563898,0.631,rs729183,,,,,,chr14,103576443,103576443,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr684Thr/c.2052T>C|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|11|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4me1,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HeLa-S3:Cfos,H1ESC:Jund,HeLa-S3:H3K4me3,HepG2:DNase1",,,,0.3569,0.5447,0.2435,0.03,0.07,0.01,,,,,,,,,,,,,,,,
missense_variant,EXOC3L4,MISSENSE,NM_001077594.1:p.Gln685Glu/c.2053C>G,Caa/Gaa,MODERATE,COSM3753794(2),0.563898,0.631,rs744153,0.3(T),0.207(B),1.935(M),-1.0923(T),,chr14,103576444,103576444,C,G,het,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln685Glu/c.2053C>G|722|EXOC3L4|protein_coding|CODING|NM_001077594.1|11|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4me1,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HeLa-S3:Cfos,H1ESC:Jund,HeLa-S3:H3K4me3,HepG2:DNase1",,,,0.3569,0.5447,0.2435,0.03,0.08,0.01,,0.268190(N),1.000(P),3.41(T),0.0000(T),0.262,0.505332,4.05,3.15,-0.518000,1.053000,1.275000,0.016000,0.002000,0.003000,9.8244
missense_variant,TNFAIP2,MISSENSE,NM_006291.2:p.Gln282Glu/c.844C>G,Cag/Gag,MODERATE,COSM1562733(4),0.522564,0.5556,rs1132339,0.05(D),0.571(P),1.995(M),-1.0747(T),,chr14,103593950,103593950,C,G,hom,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln282Glu/c.844C>G|654|TNFAIP2|protein_coding|CODING|NM_006291.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5307,0.5562,0.6233,0.58,0.43,0.65,,0.001756(N),0.000(P),3.31(T),0.0000(T),0.163,2.284832,4.42,3.5,0.289000,0.794000,1.263000,0.733000,1.000000,1.000000,10.7654
synonymous_variant,TNFAIP2,SILENT,NM_006291.2:p.Asp635Asp/c.1905C>T,gaC/gaT,LOW,COSM3753796(1),0.0117812,0,rs2234147,,,,,,chr14,103601637,103601637,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp635Asp/c.1905C>T|654|TNFAIP2|protein_coding|CODING|NM_006291.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0348,0.0159,0.0119,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,MARK3,MISSENSE,NM_001128918.1:p.Phe410Ser/c.1229T>C,tTt/tCt,MODERATE,,1,1,rs10137161,,,-1.87(N),-0.9306(T),,chr14,103934488,103934488,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe410Ser/c.1229T>C|753|MARK3|protein_coding|CODING|NM_001128918.1|12|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe410Ser/c.1229T>C|744|MARK3|protein_coding|CODING|NM_001128919.1|12|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe331Ser/c.992T>C|659|MARK3|protein_coding|CODING|NM_001128921.1|11|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe410Ser/c.1229T>C|729|MARK3|protein_coding|CODING|NM_002376.5|12|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe394Ser/c.1181T>C|713|MARK3|protein_coding|CODING|NM_001128920.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000000(D),0.927(P),0.9(T),0.0000(T),.,1.501780,5.63,5.63,-0.119000,1.399000,5.871000,0.978000,0.999000,1.000000,14.8017
missense_variant,MARK3,MISSENSE,NM_001128918.1:p.Arg572Trp/c.1714C>T,Cgg/Tgg,MODERATE,,,,,0(D),"0.978,0.978,0.944,0.921,0.952,0.99,0.963,0.963(D,D,D,D,D,D,D,D)",2.485(M),-0.2922(T),,chr14,103958241,103958241,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg572Trp/c.1714C>T|753|MARK3|protein_coding|CODING|NM_001128918.1|15|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg572Trp/c.1714C>T|744|MARK3|protein_coding|CODING|NM_001128919.1|15|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg556Trp/c.1666C>T|713|MARK3|protein_coding|CODING|NM_001128920.1|15|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg493Trp/c.1477C>T|659|MARK3|protein_coding|CODING|NM_001128921.1|14|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg572Trp/c.1714C>T|729|MARK3|protein_coding|CODING|NM_002376.5|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"0.65,0.65,0.65,0.65,0.65,0.65,0.65,0.65(T,T,T,T,T,T,T,T)",0.3245(T),0.858,4.750303,5.67,4.78,-0.169000,1.525000,5.770000,0.941000,1.000000,1.000000,16.4333
synonymous_variant,TRMT61A,SILENT,NM_152307.2:p.Ala27Ala/c.81G>A,gcG/gcA,LOW,COSM4147842(1),0.986222,1,rs2765037,,,,,,chr14,103996396,103996396,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala27Ala/c.81G>A|289|TRMT61A|protein_coding|CODING|NM_152307.2|2|1),"CD4:H3K9me1,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,CD4:H4K91ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4ac,HMEC:H3K4me1,HepG2:H3K36me3,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,CD4:H2BK12ac",,,,1,0.9986,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,APOPT1,MISSENSE,NM_032374.3:p.Pro27Ala/c.79C>G,Cct/Gct,MODERATE,COSM4147845(1),0.234625,0.0903,rs2274268,1(T),"0.0,0.001(B,B)",0.205(N),-0.9894(T),,chr14,104029378,104029378,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro27Ala/c.79C>G|206|APOPT1|protein_coding|CODING|NM_032374.3|1|1),upstream_gene_variant(MODIFIER||723||488|BAG5|protein_coding|CODING|NM_001015049.2||1),upstream_gene_variant(MODIFIER||723||447|BAG5|protein_coding|CODING|NM_004873.3||1),upstream_gene_variant(MODIFIER||227||447|BAG5|protein_coding|CODING|NM_001015048.2||1)","K562:ZBTB7A,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,GM12878:Pax5,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:ATF3,HUVEC:H3K9ac,H1ESC:H3K27ac,GM12878:SIX5,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ATF3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,HUVEC:Cmyc,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:ATF3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.1892,0.219,0.3638,0.27,0.22,0.29,,0.056090(N),1.000(P),"1.56,-0.28,1.59(T,T,T)",0.0000(T),0.323,1.571790,3.7,-1.81,-0.795000,-1.209000,-1.041000,0.000000,0.000000,0.000000,4.9382
missense_variant,XRCC3,MISSENSE,NM_001100118.1:p.Thr241Met/c.722C>T,aCg/aTg,MODERATE,COSM1128325(2),0.216853,0.0734,rs861539,0.33(T),0.19(B),1.155(L),-0.9124(T),,chr14,104165753,104165753,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr241Met/c.722C>T|346|XRCC3|protein_coding|CODING|NM_001100118.1|7|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr241Met/c.722C>T|346|XRCC3|protein_coding|CODING|NM_001100119.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr241Met/c.722C>T|346|XRCC3|protein_coding|CODING|NM_005432.3|8|1),intron_variant(MODIFIER|||c.1651-1239G>A|573|KLC1|protein_coding|CODING|NM_182923.3|13|1),intron_variant(MODIFIER|||c.1782-1239G>A|618|KLC1|protein_coding|CODING|NM_001130107.1|14|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000009500.1,,0.2096,0.2291,0.3936,0.32,0.22,0.38,,0.121979(N),1.000(P),"1.05,1.05,1.05,1.05,1.05,1.05(T,T,T,T,T,T)",0.0000(T),0.113,1.589788,4.78,1.35,0.462000,0.376000,0.642000,0.318000,0.000000,0.000000,12.3156
synonymous_variant,ZFYVE21,SILENT,NM_001198953.1:p.Leu101Leu/c.303C>G,ctC/ctG,LOW,COSM3753797(2),0.889976,0.9633,rs1535100,,,,,,chr14,104194196,104194196,C,G,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu101Leu/c.303C>G|252|ZFYVE21|protein_coding|CODING|NM_001198953.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu101Leu/c.303C>G|234|ZFYVE21|protein_coding|CODING|NM_024071.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8978,0.7997,0.9294,0.91,0.86,0.94,,,,,,,,,,,,,,,,
synonymous_variant,TDRD9,SILENT,NM_153046.2:p.Leu2Leu/c.4C>T,Ctg/Ttg,LOW,COSM1368449(4),0.460863,0.3869,rs9324066,,,,,,chr14,104394850,104394850,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu2Leu/c.4C>T|1382|TDRD9|protein_coding|CODING|NM_153046.2|1|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,H1ESC:DNase1,HeLa-S3:PolII,HeLa-S3:H3K4me3,HeLa-S3:E2F1,HeLa-S3:E2F6",,,,0.3742,0.5216,0.4016,0.44,0.56,0.38,,,,,,,,,,,,,,,,
synonymous_variant,TDRD9,SILENT,NM_153046.2:p.Thr120Thr/c.360A>G,acA/acG,LOW,,0.955072,1,rs6576013,,,,,,chr14,104429453,104429453,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr120Thr/c.360A>G|1382|TDRD9|protein_coding|CODING|NM_153046.2|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,1,0.987,0.999,,,,,,,,,,,,,,,,,,,
synonymous_variant,TDRD9,SILENT,NM_153046.2:p.Leu273Leu/c.819C>T,ctC/ctT,LOW,COSM147849(2),0.351438,0.3353,rs11851097,,,,,,chr14,104436931,104436931,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu273Leu/c.819C>T|1382|TDRD9|protein_coding|CODING|NM_153046.2|6|1),NHEK:H3K27me3,,,,0.3252,0.3646,0.3688,0.36,0.37,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TDRD9,SILENT,NM_153046.2:p.Leu366Leu/c.1098G>A,ttG/ttA,LOW,COSM147850(2),0.322085,0.3343,rs10143389,,,,-0.9672(T),,chr14,104452640,104452640,G,A,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu366Leu/c.1098G>A|1382|TDRD9|protein_coding|CODING|NM_153046.2|8|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.317,0.3516,0.3588,0.33,0.30,0.35,,,0.000(P),,0.0000(T),.,0.853663,5.71,3.9,0.650000,0.772000,1.987000,0.988000,0.986000,1.000000,7.929
synonymous_variant,TDRD9,SILENT,NM_153046.2:p.Ala485Ala/c.1455T>C,gcT/gcC,LOW,,0.941693,1,rs10133836,,,,-1.0288(T),,chr14,104465037,104465037,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala485Ala/c.1455T>C|1382|TDRD9|protein_coding|CODING|NM_153046.2|13|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9841,0.999,0.94,0.81,1.00,,,0.000(P),,0.0000(T),.,1.274484,5.06,-2.23,-0.320000,-0.522000,-0.387000,0.973000,0.951000,0.528000,2.9475
synonymous_variant,TDRD9,SILENT,NM_153046.2:p.Leu710Leu/c.2128T>C,Ttg/Ctg,LOW,COSM147853(2),0.320288,0.3393,rs11160779,,,,-1.0175(T),,chr14,104481083,104481083,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu710Leu/c.2128T>C|1382|TDRD9|protein_coding|CODING|NM_153046.2|21|1),HepG2:H3K27me3,,,,0.3139,0.3444,0.3479,0.32,0.30,0.34,,,0.000(P),,0.0000(T),.,-0.105587,5.09,-3.15,-0.376000,-0.934000,-0.448000,0.595000,0.033000,0.000000,14.7852
synonymous_variant,TDRD9,SILENT,NM_153046.2:p.Leu1127Leu/c.3381C>T,ctC/ctT,LOW,COSM147854(4),0.319289,0.3353,rs10135507,,,,,,chr14,104497543,104497543,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1127Leu/c.3381C>T|1382|TDRD9|protein_coding|CODING|NM_153046.2|29|1),"HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3139,0.3429,0.3469,0.32,0.31,0.33,,,,,,,,,,,,,,,,
missense_variant,KIF26A,MISSENSE,NM_015656.1:p.Leu227Val/c.679C>G,Ctg/Gtg,MODERATE,,0.00878594,0.001,rs45472297,0.04(D),0.987(D),1.59(L),-0.0332(T),,chr14,104618742,104618742,C,G,het,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu227Val/c.679C>G|1882|KIF26A|protein_coding|CODING|NM_015656.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.0174,0.0072,0.0199,0.01,0.00,0.01,,,0.634(D),"-1.79,-1.66(D,D)",0.4145(T),0.119,3.669950,4.2,-0.0238,0.462000,-0.059000,1.407000,0.971000,0.985000,1.000000,9.3732
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Arg319Arg/c.955A>C,Agg/Cgg,LOW,COSM3765721(1),0.0227636,0,rs76304797,,,,,,chr14,104633227,104633227,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg319Arg/c.955A>C|1882|KIF26A|protein_coding|CODING|NM_015656.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.0276,0.036,0.0586,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Leu542Leu/c.1626C>G,ctC/ctG,LOW,,0.0221645,0,rs61743517,,,,,,chr14,104639519,104639519,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu542Leu/c.1626C>G|1882|KIF26A|protein_coding|CODING|NM_015656.1|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0235,0.036,0.0577,0.05,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Ala641Ala/c.1923G>A,gcG/gcA,LOW,COSM3753806(1),0.0165735,0,rs61745565,,,,,,chr14,104640098,104640098,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala641Ala/c.1923G>A|1882|KIF26A|protein_coding|CODING|NM_015656.1|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.0288,0.0388,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Ala889Ala/c.2667C>T,gcC/gcT,LOW,COSM432716(11),0.447883,0.3869,rs2487305,,,,,,chr14,104641792,104641792,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala889Ala/c.2667C>T|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3998,0.3228,0.3439,0.42,0.59,0.34,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Pro1072Pro/c.3216A>G,ccA/ccG,LOW,COSM432717(6),0.778355,0.7897,rs2487304,,,,,,chr14,104642341,104642341,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1072Pro/c.3216A>G|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8078,0.7205,0.7097,0.76,0.83,0.73,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Phe1133Phe/c.3399C>T,ttC/ttT,LOW,,0.0209665,0,rs78184481,,,,,,chr14,104642524,104642524,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe1133Phe/c.3399C>T|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0174,0.0346,0.0577,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Ala1428Ala/c.4284A>G,gcA/gcG,LOW,COSM432718(2),0.773163,0.7827,rs2487303,,,,,,chr14,104643409,104643409,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1428Ala/c.4284A>G|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.8016,0.7176,0.7048,0.76,0.82,0.73,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Leu1432Leu/c.4296T>C,ctT/ctC,LOW,COSM3749263(4),0.464257,0.4018,rs2487302,,,,,,chr14,104643421,104643421,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu1432Leu/c.4296T>C|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.5235,0.3559,0.3767,0.43,0.53,0.38,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Ala1532Ala/c.4596C>A,gcC/gcA,LOW,COSM3753809(5),0.458866,0.372,rs2487301,,,,,,chr14,104643721,104643721,C,A,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala1532Ala/c.4596C>A|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.41,0.2911,0.3419,0.41,0.61,0.32,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Arg1578Arg/c.4734A>G,cgA/cgG,LOW,COSM3749264(3),0.494409,0.3988,rs2487300,,,,,,chr14,104643859,104643859,A,G,hom,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1578Arg/c.4734A>G|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4438,0.3718,0.4085,0.41,0.55,0.35,,,,,,,,,,,,,,,,
synonymous_variant,KIF26A,SILENT,NM_015656.1:p.Ser1658Ser/c.4974T>C,agT/agC,LOW,,0.405551,0.3185,rs2497297,,,,,,chr14,104644099,104644099,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1658Ser/c.4974T>C|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,K562:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3804,0.2911,0.3718,0.34,0.43,0.31,,,,,,,,,,,,,,,,
missense_variant,KIF26A,MISSENSE,NM_015656.1:p.Lys1696Arg/c.5087A>G,aAg/aGg,MODERATE,,0.0231629,0,rs61743202,0.09(T),0.008(B),1.5(L),-0.8549(T),,chr14,104644212,104644212,A,G,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys1696Arg/c.5087A>G|1882|KIF26A|protein_coding|CODING|NM_015656.1|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,K562:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.0225,0.036,0.0596,0.04,0.01,0.05,,,0.938(D),"-1.51,-1.51(D,D)",0.0817(T),0.009,2.343380,3.5,0.93,0.248000,-0.020000,3.107000,0.877000,0.998000,1.000000,7.3066
synonymous_variant,TMEM179,SILENT,NM_001286389.1:p.Leu96Leu/c.288C>A,ctC/ctA,LOW,COSM1562728(10),0.609824,0.3661,rs3803313,,,,,,chr14,105070791,105070791,G,T,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu96Leu/c.288C>A|233|TMEM179|protein_coding|CODING|NM_001286389.1|1|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu96Leu/c.288C>A|211|TMEM179|protein_coding|CODING|NM_001286390.1|1|1)","HUVEC:H3K27me3,HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:Nrsf,HepG2:H3K27me3",,,,0.6503,0.5303,0.7664,0.76,0.70,0.78,,,,,,,,,,,,,,,,
synonymous_variant,INF2,SILENT,NM_022489.3:p.Pro35Pro/c.105C>T,ccC/ccT,LOW,,0.986621,1,rs4983530,,,,,,chr14,105167807,105167807,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro35Pro/c.105C>T|1240|INF2|protein_coding|CODING|NM_001031714.3|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro35Pro/c.105C>T|1249|INF2|protein_coding|CODING|NM_022489.3|2|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro35Pro/c.105C>T|234|INF2|protein_coding|CODING|NM_032714.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9908,0.9669,0.9652,0.98,1.00,0.98,,,,,,,,,,,,,,,,
synonymous_variant,INF2,SILENT,NM_022489.3:p.Asp880Asp/c.2640T>C,gaT/gaC,LOW,COSM3753813(2),0.909345,0.9484,rs10133301,,,,,,chr14,105179194,105179194,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp880Asp/c.2640T>C|1240|INF2|protein_coding|CODING|NM_001031714.3|18|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp880Asp/c.2640T>C|1249|INF2|protein_coding|CODING|NM_022489.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.819,0.9092,0.8489,0.88,0.97,0.84,,,,,,,,,,,,,,,,
synonymous_variant,INF2,SILENT,NM_022489.3:p.Asp1022Asp/c.3066T>C,gaT/gaC,LOW,COSM432720(2),0.844249,0.9325,rs4983535,,,,,,chr14,105180565,105180565,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1022Asp/c.3066T>C|1240|INF2|protein_coding|CODING|NM_001031714.3|21|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1022Asp/c.3066T>C|1249|INF2|protein_coding|CODING|NM_022489.3|21|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7372,0.8602,0.7664,0.80,0.87,0.76,,,,,,,,,,,,,,,,
synonymous_variant,INF2,SILENT,NM_022489.3:p.Pro1069Pro/c.3207A>C,ccA/ccC,LOW,COSM3765727(2),0.694888,0.9137,rs1128840,,,,,,chr14,105180706,105180706,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1069Pro/c.3207A>C|1240|INF2|protein_coding|CODING|NM_001031714.3|21|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro1069Pro/c.3207A>C|1249|INF2|protein_coding|CODING|NM_022489.3|21|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6329,0.7017,0.5636,0.35,0.32,0.36,,,,,,,,,,,,,,,,
synonymous_variant,ADSSL1,SILENT,NM_199165.1:p.Val2Val/c.6G>A,gtG/gtA,LOW,COSM3753818(5),0.534345,0.6042,rs34672588,,,,,,chr14,105196235,105196235,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val2Val/c.6G>A|500|ADSSL1|protein_coding|CODING|NM_199165.1|1|1),intron_variant(MODIFIER|||c.193-5122G>A|457|ADSSL1|protein_coding|CODING|NM_152328.3|1|1)","K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:Znf263,K562:Cmyc,K562:E2F6,K562:Egr1,K562:H3K4me2,K562:DNase1",,,,0.5808,0.4813,0.4334,0.46,0.54,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ADSSL1,SILENT,NM_199165.1:p.Leu46Leu/c.136T>C,Tta/Cta,LOW,COSM3753819(3),0.609225,0.6111,rs33958252,,,,,,chr14,105196365,105196365,T,C,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu46Leu/c.136T>C|500|ADSSL1|protein_coding|CODING|NM_199165.1|1|1),intron_variant(MODIFIER|||c.193-4992T>C|457|ADSSL1|protein_coding|CODING|NM_152328.3|1|1)","K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:Znf263,K562:E2F6,K562:H3K9ac,K562:Egr1,K562:H3K4me2,K562:DNase1",,,,0.6012,0.5058,0.4453,0.55,0.74,0.46,,,,,,,,,,,,,,,,
synonymous_variant,ADSSL1,SILENT,NM_199165.1:p.Asn425Asn/c.1275C>T,aaC/aaT,LOW,COSM3999166(1),0.203674,0.5228,rs12432802,,,,,,chr14,105211221,105211221,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn382Asn/c.1146C>T|457|ADSSL1|protein_coding|CODING|NM_152328.3|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn425Asn/c.1275C>T|500|ADSSL1|protein_coding|CODING|NM_199165.1|11|1)","IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2025,0.2046,0.0656,0.06,0.06,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SIVA1,SILENT,NM_006427.3:p.Ala63Ala/c.189C>T,gcC/gcT,LOW,COSM3753820(2),0.433307,0.624,rs1132975,,,,-0.9187(T),,chr14,105222037,105222037,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala63Ala/c.189C>T|175|SIVA1|protein_coding|CODING|NM_006427.3|2|1),intron_variant(MODIFIER|||c.119-904C>T|110|SIVA1|protein_coding|CODING|NM_021709.2|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.546,0.5014,0.34,0.32,0.27,0.34,,,0.999(P),,0.0000(T),.,0.870369,5.03,0.00199,-0.251000,-0.046000,-0.220000,0.873000,0.002000,0.000000,8.0122
synonymous_variant,AKT1,SILENT,NM_001014431.1:p.Glu242Glu/c.726G>A,gaG/gaA,LOW,COSM3765730(2),0.322484,0.6002,rs1130233,,,,,,chr14,105239894,105239894,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu242Glu/c.726G>A|480|AKT1|protein_coding|CODING|NM_001014431.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu242Glu/c.726G>A|480|AKT1|protein_coding|CODING|NM_001014432.1|10|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu242Glu/c.726G>A|480|AKT1|protein_coding|CODING|NM_005163.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3773,0.4222,0.2425,0.20,0.12,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB42,SILENT,NM_001137601.1:p.Arg15Arg/c.45A>G,agA/agG,LOW,COSM3749267(14),0.674521,0.3234,rs12878684,,,,,,chr14,105267579,105267579,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg15Arg/c.45A>G|422|ZBTB42|protein_coding|CODING|NM_001137601.1|2|1),"H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,CD4:H2BK5me1,K562:E2F6,NHEK:H3K27me3,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.6247,0.755,0.8966,0.90,0.83,0.93,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB42,SILENT,NM_001137601.1:p.Leu190Leu/c.570G>A,ctG/ctA,LOW,COSM432722(2),0.218051,0.1022,rs10141867,,,,,,chr14,105268104,105268104,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu190Leu/c.570G>A|422|ZBTB42|protein_coding|CODING|NM_001137601.1|2|1),"H1ESC:H3K36me3,HepG2:H3K4me2,GM12878:H3K4me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K27me3,CD4:H3K4me1,HepG2:H3K4me3,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,GM12878:H3K4me2",,,,0.1503,0.2406,0.2684,0.29,0.31,0.28,,,,,,,,,,,,,,,,
missense_variant,ZBTB42,MISSENSE,NM_001137601.1:p.Glu232Lys/c.694G>A,Gaa/Aaa,MODERATE,,0.589257,0.3056,rs4983387,0.62(T),0.552(P),0.895(L),-1.0977(T),,chr14,105268228,105268228,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu232Lys/c.694G>A|422|ZBTB42|protein_coding|CODING|NM_001137601.1|2|1),"H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K27me3,CD4:H3K4me1,HepG2:H3K36me3,GM12878:H3K4me2",,,,0.5297,0.7205,0.8797,0.82,0.62,0.90,,,0.305(P),"2.67,2.67(T,T)",0.0000(T),0.129,1.972449,3.68,3.68,0.462000,1.897000,6.634000,0.058000,0.005000,1.000000,15.5866
synonymous_variant,CEP170B,SILENT,NM_001112726.2:p.Phe89Phe/c.267C>T,ttC/ttT,LOW,COSM4147860(2),0.353834,0.1994,rs61995995,,,,,,chr14,105344293,105344293,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe89Phe/c.267C>T|1554|CEP170B|protein_coding|CODING|NM_001112726.2|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe19Phe/c.57C>T|1519|CEP170B|protein_coding|CODING|NM_015005.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4714,0.5159,0.5716,0.45,0.21,0.57,,,,,,,,,,,,,,,,
synonymous_variant,CEP170B,SILENT,NM_001112726.2:p.Pro198Pro/c.594A>C,ccA/ccC,LOW,COSM3753825(3),0.516973,0.2302,rs2028414,,,,,,chr14,105349388,105349388,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro198Pro/c.594A>C|1554|CEP170B|protein_coding|CODING|NM_001112726.2|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro128Pro/c.384A>C|1519|CEP170B|protein_coding|CODING|NM_015005.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",IgG_glycosylation,,,0.6063,0.5865,0.669,0.62,0.53,0.66,,,,,,,,,,,,,,,,
synonymous_variant,CEP170B,SILENT,NM_001112726.2:p.His354His/c.1062C>T,caC/caT,LOW,COSM3753827(1),0.219649,0.003,rs45449696,,,,,,chr14,105350178,105350178,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His354His/c.1062C>T|1554|CEP170B|protein_coding|CODING|NM_001112726.2|9|1),synonymous_variant(LOW|SILENT|caC/caT|p.His284His/c.852C>T|1519|CEP170B|protein_coding|CODING|NM_015005.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2689,0.3242,0.3618,0.30,0.19,0.36,,,,,,,,,,,,,,,,
synonymous_variant,CEP170B,SILENT,NM_001112726.2:p.Thr413Thr/c.1239A>G,acA/acG,LOW,COSM3753828(1),0.469449,0.25,rs2841236,,,,,,chr14,105350355,105350355,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr413Thr/c.1239A>G|1554|CEP170B|protein_coding|CODING|NM_001112726.2|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr343Thr/c.1029A>G|1519|CEP170B|protein_coding|CODING|NM_015005.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6237,0.5418,0.7028,0.61,0.40,0.70,,,,,,,,,,,,,,,,
synonymous_variant,CEP170B,SILENT,NM_001112726.2:p.Asp561Asp/c.1683C>T,gaC/gaT,LOW,COSM4147864(1),0.48722,0.2183,rs9788593,,,,,,chr14,105350799,105350799,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp561Asp/c.1683C>T|1554|CEP170B|protein_coding|CODING|NM_001112726.2|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp491Asp/c.1473C>T|1519|CEP170B|protein_coding|CODING|NM_015005.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6544,0.6412,0.7734,0.66,0.41,0.78,,,,,,,,,,,,,,,,
synonymous_variant,CEP170B,SILENT,NM_001112726.2:p.Ala584Ala/c.1752C>T,gcC/gcT,LOW,COSM4147865(3),0.488019,0.2262,rs9788594,,,,,,chr14,105350868,105350868,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala584Ala/c.1752C>T|1554|CEP170B|protein_coding|CODING|NM_001112726.2|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala514Ala/c.1542C>T|1519|CEP170B|protein_coding|CODING|NM_015005.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6503,0.6383,0.7734,0.65,0.40,0.78,,,,,,,,,,,,,,,,
synonymous_variant,CEP170B,SILENT,NM_001112726.2:p.Ser1239Ser/c.3717A>G,tcA/tcG,LOW,COSM1128319(10),0.563698,0.2272,rs2582548,,,,,,chr14,105354293,105354293,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1239Ser/c.3717A>G|1554|CEP170B|protein_coding|CODING|NM_001112726.2|12|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1169Ser/c.3507A>G|1519|CEP170B|protein_coding|CODING|NM_015005.2|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6544,0.6527,0.7753,0.73,0.60,0.79,,,,,,,,,,,,,,,,
missense_variant,PLD4,MISSENSE,NM_138790.2:p.Glu27Gln/c.79G>C,Gag/Cag,MODERATE,COSM3723089(3),0.411941,0.5982,rs2841280,0.55(T),"0.017,0.007(B,B)",0.14(N),-0.9456(T),,chr14,105393556,105393556,G,C,hom,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu27Gln/c.79G>C|506|PLD4|protein_coding|CODING|NM_138790.2|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM12878:H3K4me1,HepG2:H3K27me3,GM12878:H3K4me2",,,,0.3712,0.4813,0.4692,0.37,0.22,0.44,,0.143486(U),1.000(P),"1.93,1.93,1.84(T,T,T)",0.0000(T),0.04,-0.031823,3.23,1.17,0.511000,0.115000,-0.448000,0.014000,0.000000,0.000000,9.5387
missense_variant,AHNAK2,MISSENSE,NM_138420.2:p.Glu2503Ala/c.7508A>C,gAg/gCg,MODERATE,,0.843251,0.628,rs2819429,0.32(T),0.168(B),2.47(M),-0.9773(T),,chr14,105414280,105414280,T,G,het,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu2503Ala/c.7508A>C|5795|AHNAK2|protein_coding|CODING|NM_138420.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8609,0.866,0.8419,0.90,0.96,0.87,,,1.000(P),5.62(T),0.0000(T),0.083,2.052865,3.42,-1.15,0.254000,0.254000,-0.636000,0.058000,0.006000,0.000000,2.0549
missense_variant,AHNAK2,MISSENSE,NM_138420.2:p.Leu2146Val/c.6436C>G,Ctg/Gtg,MODERATE,,0.00519169,0.003,rs12890949,0.64(T),0.002(B),-1.265(N),-1.0508(T),,chr14,105415352,105415352,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu2146Val/c.6436C>G|5795|AHNAK2|protein_coding|CODING|NM_138420.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0153,0.0014,0,0.94,0.88,0.98,,,1.000(P),5.63(T),0.0000(T),0.072,-0.336164,4.08,-2.68,-1.813000,-0.930000,-1.298000,0.002000,0.000000,0.000000,5.2208
missense_variant,AHNAK2,MISSENSE,NM_138420.2:p.Glu1856Asp/c.5568A>T,gaA/gaT,MODERATE,COSM3765739(1),0.721845,0.6121,rs2819435,1(T),0.002(B),-0.625(N),-0.8370(T),,chr14,105416220,105416220,T,A,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu1856Asp/c.5568A>T|5795|AHNAK2|protein_coding|CODING|NM_138420.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7996,0.6614,0.7853,0.86,0.95,0.82,,,1.000(P),6.69(T),0.0000(T),0.032,-2.335091,4.01,-8.02,-2.906000,-6.355000,-10.090000,0.000000,0.000000,0.000000,0.6621
missense_variant,AHNAK2,MISSENSE,NM_138420.2:p.Met1298Ile/c.3894G>C,atG/atC,MODERATE,COSM3720759(2),0.783546,0.5982,rs2819440,0.33(T),0.0(B),-2.01(N),-1.0082(T),,chr14,105417894,105417894,C,G,het,missense_variant(MODERATE|MISSENSE|atG/atC|p.Met1298Ile/c.3894G>C|5795|AHNAK2|protein_coding|CODING|NM_138420.2|7|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7853,0.6758,0.7694,0.82,0.96,0.74,,,1.000(P),6.26(T),0.0000(T),0.069,-1.048798,4.21,-0.191,-1.145000,-0.810000,-0.516000,0.000000,0.000000,0.947000,3.7716
synonymous_variant,AHNAK2,SILENT,NM_138420.2:p.Ser1176Ser/c.3528A>T,tcA/tcT,LOW,COSM3931891(2),0.00778754,0.001,rs56330864,,,,,,chr14,105418260,105418260,T,A,het,synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser1176Ser/c.3528A>T|5795|AHNAK2|protein_coding|CODING|NM_138420.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0092,0.0101,0.0189,0.42,0.17,0.54,,,,,,,,,,,,,,,,
synonymous_variant,C14orf79,SILENT,NM_174891.3:p.Leu317Leu/c.949C>T,Ctg/Ttg,LOW,,0.744808,0.5655,rs894039,,,,,,chr14,105461067,105461067,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu317Leu/c.949C>T|325|C14orf79|protein_coding|CODING|NM_174891.3|5|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7147,0.7824,0.8151,0.81,0.82,0.81,,,,,,,,,,,,,,,,
synonymous_variant,CDCA4,SILENT,NM_017955.3:p.Asn55Asn/c.165C>T,aaC/aaT,LOW,COSM4147921(1),0.41893,0.3056,rs3803294,,,,,,chr14,105478102,105478102,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn55Asn/c.165C>T|241|CDCA4|protein_coding|CODING|NM_017955.3|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn55Asn/c.165C>T|241|CDCA4|protein_coding|CODING|NM_145701.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.5072,0.5317,0.6471,0.54,0.29,0.67,,,,,,,,,,,,,,,,
synonymous_variant,JAG2,SILENT,NM_002226.4:p.Ile1138Ile/c.3414T>C,atT/atC,LOW,COSM3753839(6),0.689896,0.5337,rs10149229,,,,,,chr14,105609335,105609335,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1138Ile/c.3414T>C|1238|JAG2|protein_coding|CODING|NM_002226.4|26|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1100Ile/c.3300T>C|1200|JAG2|protein_coding|CODING|NM_145159.2|25|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.6288,0.6571,0.66,0.73,0.85,0.68,,,,,,,,,,,,,,,,
synonymous_variant,JAG2,SILENT,NM_002226.4:p.Ala1023Ala/c.3069T>C,gcT/gcC,LOW,COSM3753840(3),0.676717,0.502,rs2272591,,,,,,chr14,105611282,105611282,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1023Ala/c.3069T>C|1238|JAG2|protein_coding|CODING|NM_002226.4|24|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala985Ala/c.2955T>C|1200|JAG2|protein_coding|CODING|NM_145159.2|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6053,0.6484,0.6581,0.72,0.84,0.66,,,,,,,,,,,,,,,,
missense_variant,JAG2,MISSENSE,NM_002226.4:p.Asp538Asn/c.1612G>A,Gac/Aac,MODERATE,COSM48446(6),0.120008,0.1687,rs9972231,0.43(T),"0.1,0.025(B,B)",1.56(L),-0.9985(T),,chr14,105615648,105615648,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp538Asn/c.1612G>A|1238|JAG2|protein_coding|CODING|NM_002226.4|13|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp500Asn/c.1498G>A|1200|JAG2|protein_coding|CODING|NM_145159.2|12|1),downstream_gene_variant(MODIFIER||1467|||MIR6765||NON_CODING|NR_106823.1||1)","HUVEC:H3K36me3,HUVEC:DNase1,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2086,0.1268,0.1312,0.10,0.03,0.13,,0.000002(D),0.000(P),"-1.75,-1.75(D,D)",0.0013(T),0.054,1.928193,3.8,3.8,0.556000,1.830000,0.959000,0.038000,0.038000,0.269000,13.511
missense_variant,JAG2,MISSENSE,NM_002226.4:p.Glu501Lys/c.1501G>A,Gag/Aag,MODERATE,COSM432749(1),0.520168,0.3185,rs1057744,0.17(T),"0.003,0.001(B,B)",2.09(M),-0.9524(T),,chr14,105617042,105617042,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu501Lys/c.1501G>A|1238|JAG2|protein_coding|CODING|NM_002226.4|12|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu463Lys/c.1387G>A|1200|JAG2|protein_coding|CODING|NM_145159.2|11|1),downstream_gene_variant(MODIFIER||73|||MIR6765||NON_CODING|NR_106823.1||1)","HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3732,0.4107,0.5417,0.61,0.76,0.53,,0.626157(N),1.000(P),"-2.25,-2.25(D,D)",0.0000(T),0.045,1.376496,3.37,1.36,0.297000,0.035000,0.056000,0.763000,0.068000,0.000000,2.7873
synonymous_variant,MTA1,SILENT,NM_004689.3:p.Asn89Asn/c.267C>T,aaC/aaT,LOW,,0.977236,1,rs386420863,,,,,,chr14,105916420,105916420,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn89Asn/c.267C>T|430|MTA1|protein_coding|CODING|NM_001203258.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn89Asn/c.267C>T|715|MTA1|protein_coding|CODING|NM_004689.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9971,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,MTA1,MISSENSE,NM_004689.3:p.Val372Ile/c.1114G>A,Gtc/Atc,MODERATE,COSM147860(3),0.284944,0.622,rs4983413,0.2(T),"0.036,0.067(B,B)",0.69(N),-0.9758(T),,chr14,105930406,105930406,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val372Ile/c.1114G>A|430|MTA1|protein_coding|CODING|NM_001203258.1|13|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val372Ile/c.1114G>A|715|MTA1|protein_coding|CODING|NM_004689.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3231,0.3314,0.2366,0.17,0.05,0.23,,0.021022(N),0.000(P),"1.52,1.52,1.51,1.53(T,T,T,T)",0.0000(T),0.312,2.082237,4.61,1.66,0.563000,0.366000,1.456000,0.734000,0.972000,0.813000,7.0619
missense_variant,MTA1,MISSENSE,NM_004689.3:p.Ala612Thr/c.1834G>A,Gcc/Acc,MODERATE,COSM4147937(1),0.854233,1,rs13707,1(T),0.0(B),-0.55(N),-1.0283(T),,chr14,105935824,105935824,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala612Thr/c.1834G>A|715|MTA1|protein_coding|CODING|NM_004689.3|19|1),3_prime_UTR_variant(MODIFIER||4924|c.*494G>A|430|MTA1|protein_coding|CODING|NM_001203258.1|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9669,0.999,0.85,0.56,1.00,,0.015531(N),0.997(P),"1.5,1.57,1.51,1.53,0.94,1.12(T,T,T,T,T,T)",0.0000(T),0.26,-0.615868,4.73,0.854,-1.815000,-0.318000,1.779000,0.460000,0.996000,1.000000,1.9052
missense_variant,OR4M2,MISSENSE,NM_001004719.2:p.Gly96Glu/c.287G>A,gGa/gAa,MODERATE,,,,rs1835183,0.04(D),0.735(P),2.42(M),-1.0465(T),,chr15,22368862,22368862,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly96Glu/c.287G>A|313|OR4M2|protein_coding|CODING|NM_001004719.2|1|1),intron_variant(MODIFIER|||n.824-13602G>A||LOC101927079||NON_CODING|NR_110480.1|7|1),intron_variant(MODIFIER|||n.556-13602G>A||LOC101927079||NON_CODING|NR_110481.1|5|1),non_coding_exon_variant(MODIFIER|||n.1319G>A||LOC727924||NON_CODING|NR_015416.1|10|1)",,,,,,,,0.56,0.41,0.64,,0.000225(D),1.000(P),2.95(T),0.0000(T),0.18,2.146421,2.5,2.5,0.448000,1.422000,0.394000,0.774000,0.990000,0.087000,10.8078
synonymous_variant,OR4M2,SILENT,NM_001004719.2:p.Ser110Ser/c.330G>A,tcG/tcA,LOW,,,,rs1835182,,,,,,chr15,22368905,22368905,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser110Ser/c.330G>A|313|OR4M2|protein_coding|CODING|NM_001004719.2|1|1),intron_variant(MODIFIER|||n.824-13559G>A||LOC101927079||NON_CODING|NR_110480.1|7|1),intron_variant(MODIFIER|||n.556-13559G>A||LOC101927079||NON_CODING|NR_110481.1|5|1),non_coding_exon_variant(MODIFIER|||n.1362G>A||LOC727924||NON_CODING|NR_015416.1|10|1)",,,,,,,,0.55,0.39,0.63,,,,,,,,,,,,,,,,
missense_variant,OR4M2,MISSENSE,NM_001004719.2:p.Phe225Leu/c.673T>C,Ttc/Ctc,MODERATE,,,,rs491208,1(T),0.0(B),-3.045(N),-0.9717(T),,chr15,22369248,22369248,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe225Leu/c.673T>C|313|OR4M2|protein_coding|CODING|NM_001004719.2|1|1),intron_variant(MODIFIER|||n.824-13216T>C||LOC101927079||NON_CODING|NR_110480.1|7|1),intron_variant(MODIFIER|||n.556-13216T>C||LOC101927079||NON_CODING|NR_110481.1|5|1),intron_variant(MODIFIER|||n.1509+196T>C||LOC727924||NON_CODING|NR_015416.1|10|1)",,,,,,,,,,,,0.000844(N),1.000(P),8.91(T),0.0000(T),0.111,-2.796243,2.5,0.487,-0.411000,-0.314000,-1.168000,0.062000,0.092000,0.000000,6.2096
missense_variant,OR4M2,MISSENSE,NM_001004719.2:p.Arg284His/c.851G>A,cGt/cAt,MODERATE,COSM1372009(2),,,rs4087943,0(D),0.004(B),0(N),-0.9723(T),,chr15,22369426,22369426,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg284His/c.851G>A|313|OR4M2|protein_coding|CODING|NM_001004719.2|1|1),intron_variant(MODIFIER|||n.824-13038G>A||LOC101927079||NON_CODING|NR_110480.1|7|1),intron_variant(MODIFIER|||n.556-13038G>A||LOC101927079||NON_CODING|NR_110481.1|5|1),intron_variant(MODIFIER|||n.1509+374G>A||LOC727924||NON_CODING|NR_015416.1|10|1)",,,,,,,,0.52,0.43,0.56,,0.000472(D),1.000(P),1.22(T),0.0000(T),0.112,2.051834,2.28,2.28,-0.598000,0.148000,5.485000,0.812000,0.998000,0.996000,6.6756
missense_variant,OR4N4,MISSENSE,NM_001005241.3:p.Ala78Pro/c.232G>C,Gct/Cct,MODERATE,COSM4148383(2),,,rs62006708,0(D),0.018(B),3.205(M),-1.0576(T),,chr15,22382704,22382704,G,C,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala78Pro/c.232G>C|316|OR4N4|protein_coding|CODING|NM_001005241.3|1|1),non_coding_exon_variant(MODIFIER|||n.1064G>C||LOC101927079||NON_CODING|NR_110480.1|8|1),non_coding_exon_variant(MODIFIER|||n.796G>C||LOC101927079||NON_CODING|NR_110481.1|6|1)","K562:CTCF,HeLa-S3:CTCF,HepG2:CTCF",,,,,,,0.12,0.04,0.16,,0.000207(D),0.893(P),4.05(T),0.0000(T),0.319,-0.084346,3.2,2.26,0.184000,0.671000,-0.789000,0.027000,1.000000,0.000000,8.183
synonymous_variant,OR4N4,SILENT,NM_001005241.3:p.Lys89Lys/c.267A>G,aaA/aaG,LOW,,0.996406,1,rs2671839,,,,,,chr15,22382739,22382739,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys89Lys/c.267A>G|316|OR4N4|protein_coding|CODING|NM_001005241.3|1|1),non_coding_exon_variant(MODIFIER|||n.1099A>G||LOC101927079||NON_CODING|NR_110480.1|8|1),non_coding_exon_variant(MODIFIER|||n.831A>G||LOC101927079||NON_CODING|NR_110481.1|6|1)","K562:CTCF,HeLa-S3:CTCF,HepG2:CTCF",,,,0.998,1,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,OR4N4,MISSENSE,NM_001005241.3:p.Tyr142Cys/c.425A>G,tAt/tGt,MODERATE,,,,rs62006710,0.18(T),0.008(B),0(N),-0.9979(T),,chr15,22382897,22382897,A,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr142Cys/c.425A>G|316|OR4N4|protein_coding|CODING|NM_001005241.3|1|1),intron_variant(MODIFIER|||n.1102+155A>G||LOC101927079||NON_CODING|NR_110480.1|8|1),intron_variant(MODIFIER|||n.834+155A>G||LOC101927079||NON_CODING|NR_110481.1|6|1)","K562:CTCF,HeLa-S3:CTCF,HepG2:CTCF",,,,,,,0.19,0.06,0.25,,0.054825(N),1.000(P),1.18(T),0.0000(T),0.108,-1.230687,3.37,3.37,0.332000,1.522000,-0.730000,0.236000,0.343000,0.000000,5.3395
missense_variant,OR4N4,MISSENSE,NM_001005241.3:p.Leu164Ile/c.490C>A,Ctc/Atc,MODERATE,,,,rs150917273,0.39(T),0.009(B),0.45(N),-1.0057(T),,chr15,22382962,22382962,C,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu164Ile/c.490C>A|316|OR4N4|protein_coding|CODING|NM_001005241.3|1|1),intron_variant(MODIFIER|||n.1102+220C>A||LOC101927079||NON_CODING|NR_110480.1|8|1),intron_variant(MODIFIER|||n.834+220C>A||LOC101927079||NON_CODING|NR_110481.1|6|1)","K562:CTCF,HeLa-S3:CTCF,HepG2:CTCF",,,,,,,,,,,0.013926(N),1.000(N),8.54(T),0.0003(T),0.139,-1.297960,3.37,2.34,0.404000,1.870000,-0.778000,0.241000,0.993000,0.000000,3.6767
synonymous_variant,OR4N4,SILENT,NM_001005241.3:p.Leu198Leu/c.594A>G,ctA/ctG,LOW,COSM3999468(1),0.420327,0.4127,rs559754,,,,,,chr15,22383066,22383066,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu198Leu/c.594A>G|316|OR4N4|protein_coding|CODING|NM_001005241.3|1|1),intron_variant(MODIFIER|||n.1103-236A>G||LOC101927079||NON_CODING|NR_110480.1|8|1),intron_variant(MODIFIER|||n.835-236A>G||LOC101927079||NON_CODING|NR_110481.1|6|1)",,,,,0.3947,0.3862,0.4642,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR4N4,SILENT,NM_001005241.3:p.Thr239Thr/c.717G>A,acG/acA,LOW,COSM147864(3),,,rs1820851,,,,,,chr15,22383189,22383189,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr239Thr/c.717G>A|316|OR4N4|protein_coding|CODING|NM_001005241.3|1|1),intron_variant(MODIFIER|||n.1103-113G>A||LOC101927079||NON_CODING|NR_110480.1|8|1),intron_variant(MODIFIER|||n.835-113G>A||LOC101927079||NON_CODING|NR_110481.1|6|1)",,,,,,,,0.43,0.33,0.48,,,,,,,,,,,,,,,,
synonymous_variant,CYFIP1,SILENT,NM_001287810.1:p.Pro23Pro/c.69C>T,ccC/ccT,LOW,COSM3754243(1),0.176917,0.003,rs4134802,,,,,,chr15,22925851,22925851,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro23Pro/c.69C>T|1253|CYFIP1|protein_coding|CODING|NM_001287810.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro23Pro/c.69C>T|1253|CYFIP1|protein_coding|CODING|NM_014608.3|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1125,0.1412,0.2207,0.25,0.33,0.21,,,,,,,,,,,,,,,,
synonymous_variant,CYFIP1,SILENT,NM_001287810.1:p.Pro306Pro/c.918G>A,ccG/ccA,LOW,COSM433627(1),0.330072,0.1141,rs11633474,,,,,,chr15,22939192,22939192,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro306Pro/c.918G>A|1253|CYFIP1|protein_coding|CODING|NM_001287810.1|11|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro306Pro/c.918G>A|1253|CYFIP1|protein_coding|CODING|NM_014608.3|10|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:Cjun,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.2495,0.4741,0.505,0.45,0.35,0.50,,,,,,,,,,,,,,,,
synonymous_variant,NIPA2,SILENT,NM_001008860.2:p.Lys33Lys/c.99G>A,aaG/aaA,LOW,,0.225639,0.2421,rs386608074,,,,,,chr15,23021238,23021238,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys33Lys/c.99G>A|360|NIPA2|protein_coding|CODING|NM_001008860.2|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys33Lys/c.99G>A|360|NIPA2|protein_coding|CODING|NM_001008892.2|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys33Lys/c.99G>A|341|NIPA2|protein_coding|CODING|NM_001008894.2|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys33Lys/c.99G>A|341|NIPA2|protein_coding|CODING|NM_001184888.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys33Lys/c.99G>A|360|NIPA2|protein_coding|CODING|NM_001184889.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys33Lys/c.99G>A|360|NIPA2|protein_coding|CODING|NM_030922.6|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.3112,0.1799,0.18,0.22,0.16,,,,,,,,,,,,,,,,
synonymous_variant,NIPA1,SILENT,NM_144599.4:p.Thr147Thr/c.441A>G,acA/acG,LOW,COSM3999473(1),0.704073,0.8026,rs11263683,,,,,,chr15,23052632,23052632,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr72Thr/c.216A>G|254|NIPA1|protein_coding|CODING|NM_001142275.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr147Thr/c.441A>G|329|NIPA1|protein_coding|CODING|NM_144599.4|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117820.2,,0.862,0.8098,0.7157,0.65,0.49,0.74,,,,,,,,,,,,,,,,
synonymous_variant,MKRN3,SILENT,NM_005664.3:p.Pro221Pro/c.663C>T,ccC/ccT,LOW,,0.209864,0.1875,rs2239669,,,,,,chr15,23811592,23811592,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro221Pro/c.663C>T|507|MKRN3|protein_coding|CODING|NM_005664.3|1|1),"H1ESC:H3K36me3,K562:H3K4me3,CD4:DNase1,K562:H3K36me3,NH-A:H3K4me3,K562:H3K9ac,HepG2:H3K4me3,HepG2:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,K562:H3K4me2",,,,0.2188,0.1715,0.3161,0.26,0.18,0.31,,,,,,,,,,,,,,,,
missense_variant,NPAP1,MISSENSE,NM_018958.2:p.Gly253Arg/c.757G>C,Gga/Cga,MODERATE,COSM433643(2),0.273562,0.4673,rs1563102,0.7(T),0.659(P),0.69(N),-1.0182(T),,chr15,24921771,24921771,G,C,hom,missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly253Arg/c.757G>C|1156|NPAP1|protein_coding|CODING|NM_018958.2|1|1),"H1ESC:H3K36me3,H1ESC:DNase1,K562:Gabp,H1ESC:Rad21,H1ESC:CTCF",,,,0.318,0.3516,0.325,0.22,0.06,0.31,,,1.000(P),2.87(T),0.0000(T),0.03,1.639244,2.07,-4.13,0.436000,-1.084000,-1.085000,0.027000,0.000000,0.000000,5.3948
missense_variant,ATP10A,MISSENSE,NM_024490.3:p.Arg1298Ser/c.3894G>C,agG/agC,MODERATE,COSM3999482(1),0.446086,0.3611,rs3816800,0.91(T),0.0(B),-1.81(N),-0.9543(T),,chr15,25925094,25925094,C,G,het,missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg1298Ser/c.3894G>C|1499|ATP10A|protein_coding|CODING|NM_024490.3|21|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3",,,,0.4703,0.3948,0.4841,0.49,0.52,0.48,,0.001499(N),1.000(P),1.11(T),0.0000(T),0.103,-1.122430,5.41,0.738,-0.120000,0.006000,-1.403000,0.061000,0.381000,0.014000,2.3822
synonymous_variant,ATP10A,SILENT,NM_024490.3:p.Ala1176Ala/c.3528C>T,gcC/gcT,LOW,COSM3754248(1),0.677915,0.6121,rs2076743,,,,,,chr15,25926186,25926186,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1176Ala/c.3528C>T|1499|ATP10A|protein_coding|CODING|NM_024490.3|18|1),"GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3",,,,0.6094,0.7147,0.6123,0.68,0.80,0.62,,,,,,,,,,,,,,,,
synonymous_variant,ATP10A,SILENT,NM_024490.3:p.Pro563Pro/c.1689T>C,ccT/ccC,LOW,,0.992212,1,rs10873607,,,,,,chr15,25961964,25961964,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro563Pro/c.1689T>C|1499|ATP10A|protein_coding|CODING|NM_024490.3|9|1),IMR90:H3K36me3,,,,1,0.9971,0.999,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GABRA5,SILENT,NM_000810.3:p.Val202Val/c.606T>C,gtT/gtC,LOW,,0.649561,0.6617,rs140682,,,,,,chr15,27182357,27182357,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val202Val/c.606T>C|462|GABRA5|protein_coding|CODING|NM_000810.3|8|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val202Val/c.606T>C|462|GABRA5|protein_coding|CODING|NM_001165037.1|8|1)",,,,,0.5971,0.5274,0.5388,0.64,0.81,0.56,,,,,,,,,,,,,,,,
synonymous_variant,GABRA5,SILENT,NM_000810.3:p.Ala325Ala/c.975C>T,gcC/gcT,LOW,COSM3754249(1),0.453075,0.3452,rs140685,,,,,,chr15,27188459,27188459,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala325Ala/c.975C>T|462|GABRA5|protein_coding|CODING|NM_000810.3|10|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala325Ala/c.975C>T|462|GABRA5|protein_coding|CODING|NM_001165037.1|10|1)","GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3916,0.5144,0.4742,0.49,0.52,0.47,,,,,,,,,,,,,,,,
synonymous_variant,OCA2,SILENT,NM_000275.2:p.Ala776Ala/c.2328T>C,gcT/gcC,LOW,COSM1749086(3),0.502396,0.4395,rs1800419,,,,,,chr15,28096538,28096538,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala776Ala/c.2328T>C|838|OCA2|protein_coding|CODING|NM_000275.2|22|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala752Ala/c.2256T>C|814|OCA2|protein_coding|CODING|NM_001300984.1|21|1)",,,,,0.5573,0.3703,0.4374,0.50,0.63,0.43,,,,,,,,,,,,,,,,
synonymous_variant,OCA2,SILENT,NM_000275.2:p.Cys517Cys/c.1551C>T,tgC/tgT,LOW,,0.364018,0.1558,rs1800411,,,,,,chr15,28211921,28211921,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys517Cys/c.1551C>T|838|OCA2|protein_coding|CODING|NM_000275.2|15|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys493Cys/c.1479C>T|814|OCA2|protein_coding|CODING|NM_001300984.1|14|1)",HepG2:H3K27me3,,,,0.3497,0.4712,0.6779,0.57,0.30,0.71,,,,,,,,,,,,,,,,
synonymous_variant,OCA2,SILENT,NM_000275.2:p.Ala355Ala/c.1065G>A,gcG/gcA,LOW,,0.410743,0.3859,rs1800404,,,,,,chr15,28235773,28235773,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala355Ala/c.1065G>A|838|OCA2|protein_coding|CODING|NM_000275.2|10|1),intron_variant(MODIFIER|||c.1045-961G>A|814|OCA2|protein_coding|CODING|NM_001300984.1|9|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.3139,0.5793,0.7863,0.60,0.23,0.79,,,,,,,,,,,,,,,,
synonymous_variant,HERC2,SILENT,NM_004667.5:p.Gln3989Gln/c.11967G>A,caG/caA,LOW,,0.0856629,0,rs11636232,,,,,,chr15,28386626,28386626,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln3989Gln/c.11967G>A|4834|HERC2|protein_coding|CODING|NM_004667.5|78|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0908,0.3221,0.28,0.08,0.38,,,,,,,,,,,,,,,,
synonymous_variant,HERC2,SILENT,NM_004667.5:p.Ser3398Ser/c.10194A>G,tcA/tcG,LOW,,0.88119,0.9831,rs386610681,,,,,,chr15,28414665,28414665,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser3398Ser/c.10194A>G|4834|HERC2|protein_coding|CODING|NM_004667.5|66|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8344,0.9741,0.9841,0.92,0.78,0.99,,,,,,,,,,,,,,,,
synonymous_variant,HERC2,SILENT,NM_004667.5:p.Gly815Gly/c.2445T>C,ggT/ggC,LOW,,0.442492,0.3006,rs11631797,,,,,,chr15,28502279,28502279,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly815Gly/c.2445T>C|4834|HERC2|protein_coding|CODING|NM_004667.5|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4192,0.6225,0.7863,0.67,0.31,0.85,,,,,,,,,,,,,,,,
synonymous_variant,HERC2,SILENT,NM_004667.5:p.Pro336Pro/c.1008A>G,ccA/ccG,LOW,,,,rs75181529,,,,,,chr15,28517436,28517436,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro336Pro/c.1008A>G|4834|HERC2|protein_coding|CODING|NM_004667.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,APBA2,MISSENSE,NM_005503.3:p.Leu311Pro/c.932T>C,cTg/cCg,MODERATE,COSM3754258(1),0.311302,0.1319,rs8040932,0.94(T),"0.0,0.0(B,B)",-1.795(N),-0.9712(T),,chr15,29347019,29347019,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu311Pro/c.932T>C|737|APBA2|protein_coding|CODING|NM_001130414.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu311Pro/c.932T>C|749|APBA2|protein_coding|CODING|NM_005503.3|3|1)","K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1",,,,0.093,0.2161,0.1889,0.35,0.67,0.18,,0.000075(N),0.583(P),2.1(T),0.0000(T),0.096,-1.548992,5.24,4.25,-0.128000,1.201000,2.721000,0.134000,0.998000,1.000000,6.1462
synonymous_variant,FAM189A1,SILENT,NM_015307.1:p.Asp534Asp/c.1602C>T,gaC/gaT,LOW,COSM433678(2),0.603035,0.5774,rs3751562,,,,,,chr15,29415560,29415560,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp534Asp/c.1602C>T|539|FAM189A1|protein_coding|CODING|NM_015307.1|11|1),"H1ESC:H3K36me3,IMR90:H3K27me3",,,,0.7822,0.6427,0.829,0.69,0.34,0.84,,,,,,,,,,,,,,,,
synonymous_variant,FAM189A1,SILENT,NM_015307.1:p.Asp488Asp/c.1464T>C,gaT/gaC,LOW,COSM4148595(2),0.88738,0.9127,rs3751563,,,,,,chr15,29415698,29415698,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp488Asp/c.1464T>C|539|FAM189A1|protein_coding|CODING|NM_015307.1|11|1),"H1ESC:H3K36me3,IMR90:H3K27me3",,,,0.9611,0.9078,0.8926,,,,,,,,,,,,,,,,,,,
missense_variant,FAM189A1,MISSENSE,NM_015307.1:p.Arg393His/c.1178G>A,cGt/cAt,MODERATE,COSM3765799(3),0.574481,0.5298,rs2256273,0.2(T),0.002(B),1.085(L),-1.0108(T),,chr15,29418520,29418520,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg393His/c.1178G>A|539|FAM189A1|protein_coding|CODING|NM_015307.1|9|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.684,0.6225,0.7813,0.67,0.40,0.78,,0.311196(N),1.000(P),4.02(T),0.0000(T),0.121,0.967961,3.37,-2.14,-1.012000,-0.485000,0.108000,0.019000,0.000000,0.007000,7.7427
synonymous_variant,FAM189A1,SILENT,NM_015307.1:p.His375His/c.1125T>C,caT/caC,LOW,COSM3754259(3),0.664936,0.5317,rs2672680,,,,,,chr15,29418573,29418573,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His375His/c.1125T>C|539|FAM189A1|protein_coding|CODING|NM_015307.1|9|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7178,0.6412,0.7843,,,,,,,,,,,,,,,,,,,
missense_variant,FAM189A1,MISSENSE,NM_015307.1:p.His375Arg/c.1124A>G,cAt/cGt,MODERATE,COSM3754260(3),0.609625,0.5317,rs2256277,0.6(T),0.0(B),1.39(L),-0.9465(T),,chr15,29418574,29418574,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His375Arg/c.1124A>G|539|FAM189A1|protein_coding|CODING|NM_015307.1|9|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6984,0.634,0.7853,,,,,0.200359(N),1.000(P),4.11(T),0.0000(T),0.025,-1.106199,3.37,-6.74,-1.016000,-3.710000,-2.512000,0.000000,0.000000,0.000000,1.0227
synonymous_variant,FAM189A1,SILENT,NM_015307.1:p.Asp206Asp/c.618T>C,gaT/gaC,LOW,COSM147869(1),0.189696,0.1875,rs3764211,,,,,,chr15,29443949,29443949,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp206Asp/c.618T>C|539|FAM189A1|protein_coding|CODING|NM_015307.1|5|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.0941,0.1297,0.0408,0.14,0.36,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FAM189A1,SILENT,NM_015307.1:p.Ala101Ala/c.303A>G,gcA/gcG,LOW,,0.499201,0.6339,rs4583203,,,,,,chr15,29544656,29544656,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala101Ala/c.303A>G|539|FAM189A1|protein_coding|CODING|NM_015307.1|3|1),,,,,0.6544,0.4885,0.5835,0.50,0.27,0.60,,,,,,,,,,,,,,,,
synonymous_variant,TJP1,SILENT,NM_001301025.1:p.Ala1454Ala/c.4362G>T,gcG/gcT,LOW,,0.998403,1,rs7166878,,,,,,chr15,30008856,30008856,C,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala1454Ala/c.4362G>T|1835|TJP1|protein_coding|CODING|NM_001301025.1|24|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala1311Ala/c.3933G>T|1692|TJP1|protein_coding|CODING|NM_001301026.1|23|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala1387Ala/c.4161G>T|1748|TJP1|protein_coding|CODING|NM_003257.4|23|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala1307Ala/c.3921G>T|1668|TJP1|protein_coding|CODING|NM_175610.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TJP1,SILENT,NM_001301025.1:p.Ala1443Ala/c.4329C>T,gcC/gcT,LOW,,0.786741,0.8641,rs2229518,,,,,,chr15,30008889,30008889,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1443Ala/c.4329C>T|1835|TJP1|protein_coding|CODING|NM_001301025.1|24|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1300Ala/c.3900C>T|1692|TJP1|protein_coding|CODING|NM_001301026.1|23|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1376Ala/c.4128C>T|1748|TJP1|protein_coding|CODING|NM_003257.4|23|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1296Ala/c.3888C>T|1668|TJP1|protein_coding|CODING|NM_175610.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8354,0.8242,0.8241,0.79,0.70,0.84,,,,,,,,,,,,,,,,
synonymous_variant,CHRFAM7A,SILENT,NM_139320.1:p.Thr140Thr/c.420G>A,acG/acA,LOW,COSM4148607(1),0.963059,0.9931,rs149526715,,,,,,chr15,30664453,30664453,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr140Thr/c.420G>A|412|CHRFAM7A|protein_coding|CODING|NM_139320.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr49Thr/c.147G>A|321|CHRFAM7A|protein_coding|CODING|NM_148911.1|6|1)",K562:H3K27me3,,,,0.9939,0.9885,0.9881,,,,,,,,,,,,,,,,,,,
missense_variant,FAN1,MISSENSE,NM_014967.4:p.Gly233Glu/c.698G>A,gGa/gAa,MODERATE,COSM3734135(1),0.422524,0.7679,rs4779794,1(T),"0.026,0.121(B,B)",1.87(L),-0.9026(T),,chr15,31197564,31197564,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly233Glu/c.698G>A|533|FAN1|protein_coding|CODING|NM_001146094.1|2|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly233Glu/c.698G>A|533|FAN1|protein_coding|CODING|NM_001146095.1|2|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly233Glu/c.698G>A|533|FAN1|protein_coding|CODING|NM_001146096.1|2|1),missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly233Glu/c.698G>A|1017|FAN1|protein_coding|CODING|NM_014967.4|2|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.546,0.4539,0.4374,0.32,0.11,0.43,,0.788905(N),1.000(P),1.01(T),0.0000(T),0.07,-0.451723,5.18,-2.16,-0.126000,-0.319000,-0.063000,0.003000,0.000000,0.000000,6.1061
synonymous_variant,FAN1,SILENT,NM_014967.4:p.His1005His/c.3015T>C,caT/caC,LOW,,0.457069,0.8294,rs2955795,,,,,,chr15,31229420,31229420,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His1005His/c.3015T>C|1017|FAN1|protein_coding|CODING|NM_014967.4|14|1),downstream_gene_variant(MODIFIER||1724||777|MTMR10|protein_coding|CODING|NM_017762.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5481,0.4654,0.4473,0.35,0.17,0.44,,,,,,,,,,,,,,,,
synonymous_variant,MTMR10,SILENT,NM_017762.2:p.Glu106Glu/c.318G>A,gaG/gaA,LOW,COSM4148621(1),0.480032,0.8313,rs1133642,,,,,,chr15,31267147,31267147,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu106Glu/c.318G>A|777|MTMR10|protein_coding|CODING|NM_017762.2|4|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5521,0.4741,0.4453,0.37,0.23,0.44,,,,,,,,,,,,,,,,
synonymous_variant,TRPM1,SILENT,NM_001252020.1:p.Asn819Asn/c.2457T>C,aaT/aaC,LOW,COSM4148623(1),0.759385,0.9524,rs2288242,,,,,,chr15,31330280,31330280,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn819Asn/c.2457T>C|1642|TRPM1|protein_coding|CODING|NM_001252020.1|18|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn802Asn/c.2406T>C|1625|TRPM1|protein_coding|CODING|NM_001252024.1|19|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn780Asn/c.2340T>C|1603|TRPM1|protein_coding|CODING|NM_002420.5|18|1)","HSMM:DNase1,K562:H3K27me3,HepG2:H3K27me3",,,,0.6421,0.8689,0.8469,0.77,0.64,0.83,,,,,,,,,,,,,,,,
missense_variant,TRPM1,MISSENSE,NM_001252020.1:p.Ala734Pro/c.2200G>C,Gct/Cct,MODERATE,,0.00878594,0,rs138944426,0(D),"0.998,0.99(D,D)",2.785(M),0.4045(D),,chr15,31332488,31332488,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala734Pro/c.2200G>C|1642|TRPM1|protein_coding|CODING|NM_001252020.1|17|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala717Pro/c.2149G>C|1625|TRPM1|protein_coding|CODING|NM_001252024.1|18|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala695Pro/c.2083G>C|1603|TRPM1|protein_coding|CODING|NM_002420.5|17|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0.0634,0,0.00,0.00,0.00,,0.000000(D),1.000(D),"-3.16,-3.16,-3.16(D,D,D)",0.7034(D),0.977,5.005804,5.08,5.08,0.655000,2.361000,7.755000,0.907000,1.000000,1.000000,18.4798
synonymous_variant,TRPM1,SILENT,NM_001252020.1:p.Thr452Thr/c.1356G>A,acG/acA,LOW,,0.519169,0.9435,rs1035705,,,,,,chr15,31342744,31342744,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr452Thr/c.1356G>A|1642|TRPM1|protein_coding|CODING|NM_001252020.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr435Thr/c.1305G>A|1625|TRPM1|protein_coding|CODING|NM_001252024.1|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr413Thr/c.1239G>A|1603|TRPM1|protein_coding|CODING|NM_002420.5|11|1)","GM12878:H3K36me3,CD4:H4K8ac,GM12878:SP1,K562:H3K27me3,HepG2:H3K27me3,GM12878:PU1,K562:SP1",,,,0.501,0.621,0.5179,0.44,0.23,0.54,,,,,,,,,,,,,,,,
missense_variant,TRPM1,MISSENSE,NM_001252020.1:p.Ser71Asn/c.212G>A,aGc/aAc,MODERATE,,0.790935,0.9296,rs2241493,0.51(T),0.001(B),-1.15(N),-0.9959(T),,chr15,31362352,31362352,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser32Asn/c.95G>A|136|TRPM1|protein_coding|CODING|NM_001252030.1|3|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser71Asn/c.212G>A|1642|TRPM1|protein_coding|CODING|NM_001252020.1|3|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser54Asn/c.161G>A|1625|TRPM1|protein_coding|CODING|NM_001252024.1|4|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser32Asn/c.95G>A|1603|TRPM1|protein_coding|CODING|NM_002420.5|3|1)","HUVEC:H3K27me3,HSMM:DNase1,HepG2:H3K27me3",,,,0.6278,0.8905,0.8082,0.79,0.75,0.81,,0.684789(N),1.000(P),"0.12,0.12,0.12(T,T,T)",0.0000(T),0.007,0.530991,6.03,-1.73,-0.982000,-0.929000,-0.595000,0.743000,0.000000,0.000000,9.9581
start_lost,TRPM1,MISSENSE,NM_002420.5:p.Met1?/c.2T>C,aTg/aCg,HIGH,,0.894369,0.9772,rs4779816,1(T),"0.0,0.0(B,B)",,-0.9351(T),TRPM1:0.50(4);,chr15,31369123,31369123,A,G,het,"start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|136|TRPM1|protein_coding|CODING|NM_001252030.1|2|1),start_lost(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|1603|TRPM1|protein_coding|CODING|NM_002420.5|2|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met40Thr/c.119T>C|1642|TRPM1|protein_coding|CODING|NM_001252020.1|2|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met23Thr/c.68T>C|1625|TRPM1|protein_coding|CODING|NM_001252024.1|3|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8905,0.8012,0.83,0.89,0.80,,0.037575(N),0.000(P),"0.82,0.56,0.56(T,T,T)",0.0000(T),0.031,-0.052077,5.46,2.41,-0.215000,0.801000,0.045000,0.085000,0.337000,0.143000,1.5298
synonymous_variant,KLF13,SILENT,NM_015995.2:p.Val64Val/c.192G>A,gtG/gtA,LOW,,0.179712,0.119,rs11537749,,,,,,chr15,31619607,31619607,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val64Val/c.192G>A|288|KLF13|protein_coding|CODING|NM_015995.2|1|1),"K562:Max,HeLa-S3:Cmyc,K562:PolII,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.271,0.2651,0.3111,,,,,,,,,,,,,,,,,,,
synonymous_variant,OTUD7A,SILENT,NM_130901.1:p.Val758Val/c.2274G>C,gtG/gtC,LOW,COSM4148624(2),0.798922,0.9177,rs2338682,,,,,,chr15,31776004,31776004,C,G,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val758Val/c.2274G>C|926|OTUD7A|protein_coding|CODING|NM_130901.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.5624,0.8084,0.6928,,,,,,,,,,,,,,,,,,,
missense_variant,OTUD7A,MISSENSE,NM_130901.1:p.Ser753Gly/c.2257A>G,Agc/Ggc,MODERATE,COSM4148625(2),1,1,rs2338681,0.71(T),"0.0,0.0(B,B)",0(N),-1.0031(T),,chr15,31776021,31776021,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser753Gly/c.2257A>G|926|OTUD7A|protein_coding|CODING|NM_130901.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,1,1,,,,,0.108066(N),1.000(P),"1.53,1.53(T,T)",0.0000(T),0.048,-1.484321,2.65,1.53,-0.525000,0.397000,-0.532000,0.001000,0.001000,0.001000,4.6968
missense_variant,OTUD7A,MISSENSE,NM_130901.1:p.Val481Leu/c.1441G>C,Gtg/Ctg,MODERATE,COSM3765804(1),0.0113818,0.001,rs76704217,0.08(T),"0.009,0.004(B,B)",2.125(M),-1.0539(T),,chr15,31776837,31776837,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val481Leu/c.1441G>C|926|OTUD7A|protein_coding|CODING|NM_130901.1|11|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0041,0.0173,0.0378,0.03,0.01,0.05,,0.000102(D),0.901(N),"1.37,1.36(T,T)",0.0156(T),0.091,2.652700,4.35,2.4,0.655000,0.936000,2.060000,0.995000,0.994000,1.000000,3.9645
synonymous_variant,OTUD7A,SILENT,NM_130901.1:p.Leu371Leu/c.1113T>C,ctT/ctC,LOW,,0.330871,0.2212,rs7164569,,,,,,chr15,31793930,31793930,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu371Leu/c.1113T>C|926|OTUD7A|protein_coding|CODING|NM_130901.1|8|1),"IMR90:H3K27me3,HepG2:H3K27me3",Venous_thromboembolism,,,0.1902,0.3429,0.339,0.39,0.47,0.35,,,,,,,,,,,,,,,,
synonymous_variant,FMN1,SILENT,NM_001277313.1:p.Pro890Pro/c.2670C>T,ccC/ccT,LOW,COSM4148658(1),0.531949,0.7976,rs2930131,,,,,,chr15,33261232,33261232,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro667Pro/c.2001C>T|1196|FMN1|protein_coding|CODING|NM_001103184.3|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro890Pro/c.2670C>T|1419|FMN1|protein_coding|CODING|NM_001277313.1|8|1)","HUVEC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.6534,0.6873,0.5865,0.45,0.20,0.57,,,,,,,,,,,,,,,,
missense_variant,FMN1,MISSENSE,NM_001277313.1:p.Leu686Pro/c.2057T>C,cTg/cCg,MODERATE,COSM147870(2),0.44988,0.2054,rs2306277,0.89(T),"0.0,0.0(B,B)",-1.055(N),-0.9499(T),,chr15,33357262,33357262,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu463Pro/c.1388T>C|1196|FMN1|protein_coding|CODING|NM_001103184.3|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu686Pro/c.2057T>C|1419|FMN1|protein_coding|CODING|NM_001277313.1|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1",,,,0.5245,0.5634,0.5646,0.54,0.46,0.57,,0.000000(N),,1.49(T),0.0000(T),0.147,-0.340750,6.04,5.13,-0.215000,0.916000,6.540000,0.474000,0.999000,1.000000,13.1464
missense_variant,FMN1,MISSENSE,NM_001103184.3:p.Gly239Glu/c.716G>A,gGg/gAg,MODERATE,COSM147871(2),0.260583,0.1478,rs11072170,0.32(T),"0.005,0.001(B,B)",,-0.9071(T),,chr15,33359370,33359370,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly239Glu/c.716G>A|1196|FMN1|protein_coding|CODING|NM_001103184.3|1|1),intron_variant(MODIFIER|||c.2044-2095G>A|1419|FMN1|protein_coding|CODING|NM_001277313.1|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2464,0.4337,0.3569,0.30,0.19,0.35,,,,1.35(T),0.0000(T),0.058,-2.721836,4.57,0.42,-0.136000,0.141000,-0.333000,0.053000,0.001000,0.000000,6.6807
missense_variant,FMN1,MISSENSE,NM_001103184.3:p.Gly171Val/c.512G>T,gGt/gTt,MODERATE,,0.723243,0.8284,rs11858145,1(T),"0.0,0.0(B,B)",,-0.9637(T),,chr15,33359574,33359574,C,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly171Val/c.512G>T|1196|FMN1|protein_coding|CODING|NM_001103184.3|1|1),intron_variant(MODIFIER|||c.2044-2299G>T|1419|FMN1|protein_coding|CODING|NM_001277313.1|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K27me3,IMR90:H4K8ac",,,,0.8364,0.7795,0.6481,0.63,0.60,0.65,,,,1.31(T),0.0000(T),0.047,-1.303150,4.84,1.03,-0.362000,0.018000,-0.756000,0.200000,0.000000,0.000000,5.7546
missense_variant,FMN1,MISSENSE,NM_001277313.1:p.His681Gln/c.2043T>A,caT/caA,MODERATE,,0.233427,0.1468,rs2291065,,,,,,chr15,33381000,33381000,A,T,het,"missense_variant(MODERATE|MISSENSE|caT/caA|p.His681Gln/c.2043T>A|1419|FMN1|protein_coding|CODING|NM_001277313.1|5|1),splice_region_variant(LOW|||c.2043T>A|1419|FMN1|protein_coding|CODING|NM_001277313.1|5|1)",HepG2:H3K27me3,,,,0.2413,0.4294,0.3618,,,,,,,,,,,,,,,,,,,
synonymous_variant,FMN1,SILENT,NM_001277313.1:p.Ser286Ser/c.858C>T,agC/agT,LOW,,0.317492,0.246,rs28377066,,,,,,chr15,33446258,33446258,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser286Ser/c.858C>T|1419|FMN1|protein_coding|CODING|NM_001277313.1|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser286Ser/c.858C>T|662|FMN1|protein_coding|CODING|NM_001277314.1|4|1)","GM06990:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,K562:H3K27me3",,,,0.4407,0.5303,0.4573,,,,,,,,,,,,,,,,,,,
missense_variant,FMN1,MISSENSE,NM_001277313.1:p.Pro269Ala/c.805C>G,Cct/Gct,MODERATE,,0.317292,0.245,rs28507600,0.62(T),0.027(B),0.345(N),-0.9152(T),,chr15,33446311,33446311,G,C,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro269Ala/c.805C>G|1419|FMN1|protein_coding|CODING|NM_001277313.1|4|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro269Ala/c.805C>G|662|FMN1|protein_coding|CODING|NM_001277314.1|4|1)","GM06990:H3K27me3,GM12878:H3K27me3,HSMM:H3K27ac,K562:H3K27me3",,,,0.4407,0.5303,0.4573,,,,,0.378317(N),0.994(N),,0.0000(T),0.145,0.472741,5.44,-0.128,-0.169000,0.105000,-0.151000,0.001000,0.001000,0.000000,1.2378
synonymous_variant,FMN1,SILENT,NM_001277313.1:p.Pro79Pro/c.237C>A,ccC/ccA,LOW,,0.109625,0.0089,rs1399077,,,,,,chr15,33446879,33446879,G,T,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro79Pro/c.237C>A|1419|FMN1|protein_coding|CODING|NM_001277313.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro79Pro/c.237C>A|662|FMN1|protein_coding|CODING|NM_001277314.1|4|1)","GM06990:H3K27me3,GM12878:H3K27me3,CD4:DNase1,HSMM:H3K27ac,HSMM:DNase1,HSMM:H3K9ac,K562:H3K27me3",,,,0.0675,0.121,0.2952,,,,,,,,,,,,,,,,,,,
missense_variant,FMN1,MISSENSE,NM_001277313.1:p.Ser57Ala/c.169T>G,Tca/Gca,MODERATE,,0.109625,0.0089,rs1399078,0.27(T),0.164(B),0.805(L),-0.9371(T),,chr15,33446947,33446947,A,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser57Ala/c.169T>G|1419|FMN1|protein_coding|CODING|NM_001277313.1|4|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser57Ala/c.169T>G|662|FMN1|protein_coding|CODING|NM_001277314.1|4|1)","GM06990:H3K27me3,GM12878:H3K27me3,CD4:DNase1,HSMM:H3K27ac,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,K562:H3K27me3",,,,0.0675,0.121,0.2952,,,,,0.078154(N),1.000(P),,0.0000(T),0.337,2.211022,5.32,0.461,-0.912000,-0.077000,1.375000,0.925000,0.847000,1.000000,4.7045
missense_variant,RYR3,MISSENSE,NM_001036.3:p.Ile731Val/c.2191A>G,Atc/Gtc,MODERATE,COSM1372392(1),0.202077,0.1587,rs2229116,0.53(T),"0.0,0.001(B,B)",0.55(N),-1.0346(T),,chr15,33905410,33905410,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile731Val/c.2191A>G|4870|RYR3|protein_coding|CODING|NM_001036.3|19|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile731Val/c.2191A>G|4865|RYR3|protein_coding|CODING|NM_001243996.1|19|1)",,Carotid_atherosclerosis_in_HIV_infection,,,0.2331,0.3314,0.2247,0.19,0.14,0.22,,0.004896(N),0.963(P),"-0.32,-0.32(T,T)",0.0000(T),0.021,0.942258,5.4,3.06,0.529000,1.079000,0.792000,0.997000,1.000000,0.999000,2.9905
missense_variant,RYR3,MISSENSE,NM_001036.3:p.Arg1641Cys/c.4921C>T,Cgc/Tgc,MODERATE,,0.838259,0.9246,rs4780144,0.05(D),"0.049,0.582(B,P)",1.39(L),-1.0038(T),,chr15,33954652,33954652,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1641Cys/c.4921C>T|4870|RYR3|protein_coding|CODING|NM_001036.3|35|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1641Cys/c.4921C>T|4865|RYR3|protein_coding|CODING|NM_001243996.1|35|1)","HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9448,0.9207,0.9622,0.87,0.67,0.96,,0.228676(N),0.004(P),"-0.74,-0.74(T,T)",0.0000(T),0.058,1.374749,5.16,0.853,-0.827000,0.360000,-0.113000,0.039000,0.998000,0.491000,5.5267
missense_variant,RYR3,MISSENSE,NM_001036.3:p.Gly2270Glu/c.6809G>A,gGg/gAg,MODERATE,,0.88099,0.9851,rs6495228,0.8(T),"0.0,0.0(B,B)",-0.125(N),-0.9431(T),,chr15,34016274,34016274,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly2270Glu/c.6809G>A|4870|RYR3|protein_coding|CODING|NM_001036.3|45|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly2270Glu/c.6809G>A|4865|RYR3|protein_coding|CODING|NM_001243996.1|45|1)","GM12878:H3K27me3,GM12878:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.8579,0.9265,0.839,0.85,0.86,0.85,,0.654051(N),1.000(P),"-3.97,-3.97(D,D)",0.0000(T),0.032,1.620616,5.39,5.39,-0.254000,1.070000,0.082000,0.012000,0.010000,0.001000,11.1823
synonymous_variant,RYR3,SILENT,NM_001036.3:p.Phe3604Phe/c.10812C>T,ttC/ttT,LOW,COSM433726(2),0.3748,0.3026,rs2288613,,,,,,chr15,34113010,34113010,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe3604Phe/c.10812C>T|4870|RYR3|protein_coding|CODING|NM_001036.3|78|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe3599Phe/c.10797C>T|4865|RYR3|protein_coding|CODING|NM_001243996.1|77|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4029,0.3689,0.5159,0.45,0.31,0.52,,,,,,,,,,,,,,,,
synonymous_variant,RYR3,SILENT,NM_001036.3:p.Ala3627Ala/c.10881A>G,gcA/gcG,LOW,,0.738818,0.7381,rs2288614,,,,,,chr15,34113536,34113536,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala3627Ala/c.10881A>G|4870|RYR3|protein_coding|CODING|NM_001036.3|79|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala3622Ala/c.10866A>G|4865|RYR3|protein_coding|CODING|NM_001243996.1|78|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7751,0.719,0.5964,0.69,0.81,0.64,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A6,SILENT,NM_133647.1:p.Leu1001Leu/c.3003C>T,ctC/ctT,LOW,COSM3754266(2),0.572085,0.6657,rs4577050,,,,,,chr15,34528948,34528948,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu942Leu/c.2826C>T|1091|SLC12A6|protein_coding|CODING|NM_001042494.1|23|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu942Leu/c.2826C>T|1091|SLC12A6|protein_coding|CODING|NM_001042495.1|23|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu992Leu/c.2976C>T|1141|SLC12A6|protein_coding|CODING|NM_001042496.1|23|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu986Leu/c.2958C>T|1135|SLC12A6|protein_coding|CODING|NM_001042497.1|21|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu950Leu/c.2850C>T|1099|SLC12A6|protein_coding|CODING|NM_005135.2|22|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1001Leu/c.3003C>T|1150|SLC12A6|protein_coding|CODING|NM_133647.1|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5767,0.6643,0.66,0.60,0.43,0.68,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A6,SILENT,NM_133647.1:p.Pro517Pro/c.1551G>C,ccG/ccC,LOW,COSM3754267(1),0.207268,0.2827,rs17236798,,,,,,chr15,34542872,34542872,C,G,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro458Pro/c.1374G>C|1091|SLC12A6|protein_coding|CODING|NM_001042494.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro458Pro/c.1374G>C|1091|SLC12A6|protein_coding|CODING|NM_001042495.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro508Pro/c.1524G>C|1141|SLC12A6|protein_coding|CODING|NM_001042496.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro502Pro/c.1506G>C|1135|SLC12A6|protein_coding|CODING|NM_001042497.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro466Pro/c.1398G>C|1099|SLC12A6|protein_coding|CODING|NM_005135.2|11|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro517Pro/c.1551G>C|1150|SLC12A6|protein_coding|CODING|NM_133647.1|11|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.2017,0.2068,0.16,0.13,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A6,SILENT,NM_133647.1:p.Ser412Ser/c.1236G>A,tcG/tcA,LOW,,0.206869,0.2827,rs2290940,,,,,,chr15,34544468,34544468,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser353Ser/c.1059G>A|1091|SLC12A6|protein_coding|CODING|NM_001042494.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser353Ser/c.1059G>A|1091|SLC12A6|protein_coding|CODING|NM_001042495.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser403Ser/c.1209G>A|1141|SLC12A6|protein_coding|CODING|NM_001042496.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser397Ser/c.1191G>A|1135|SLC12A6|protein_coding|CODING|NM_001042497.1|8|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser361Ser/c.1083G>A|1099|SLC12A6|protein_coding|CODING|NM_005135.2|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser412Ser/c.1236G>A|1150|SLC12A6|protein_coding|CODING|NM_133647.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.2003,0.2068,0.16,0.12,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A6,SILENT,NM_133647.1:p.Leu159Leu/c.475C>T,Ctg/Ttg,LOW,COSM3754270(2),0.276757,0.3542,rs7164902,,,,,,chr15,34551082,34551082,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu100Leu/c.298C>T|1091|SLC12A6|protein_coding|CODING|NM_001042494.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu100Leu/c.298C>T|1091|SLC12A6|protein_coding|CODING|NM_001042495.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu150Leu/c.448C>T|1141|SLC12A6|protein_coding|CODING|NM_001042496.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu144Leu/c.430C>T|1135|SLC12A6|protein_coding|CODING|NM_001042497.1|3|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu108Leu/c.322C>T|1099|SLC12A6|protein_coding|CODING|NM_005135.2|4|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu159Leu/c.475C>T|1150|SLC12A6|protein_coding|CODING|NM_133647.1|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3834,0.2161,0.2406,0.23,0.22,0.24,,,,,,,,,,,,,,,,
missense_variant,NUTM1,MISSENSE,NM_001284293.1:p.Lys10Asn/c.30G>C,aaG/aaC,MODERATE,,0.200679,0.3343,rs73376010,1(T),0.0(B),,-0.9143(T),,chr15,34635863,34635863,G,C,het,"missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys10Asn/c.30G>C|1150|NUTM1|protein_coding|CODING|NM_001284293.1|1|1),5_prime_UTR_variant(MODIFIER||35|c.-35G>C|1160|NUTM1|protein_coding|CODING|NM_001284292.1|1|1),5_prime_UTR_variant(MODIFIER||2358|c.-204G>C|1132|NUTM1|protein_coding|CODING|NM_175741.2|1|1),upstream_gene_variant(MODIFIER||501||64|NOP10|protein_coding|CODING|NM_018648.3||1)","K562:Max,K562:CTCF,H1ESC:H3K4me2,K562:H2AZ",,,,0.2188,0.1844,0.1511,,,,,,0.000(P),3.02(T),0.0000(T),0.033,-2.105220,3.97,2.08,-0.120000,0.256000,-0.139000,0.017000,0.960000,0.936000,4.0246
missense_variant,NUTM1,MISSENSE,NM_001284292.1:p.Gln21Arg/c.62A>G,cAg/cGg,MODERATE,COSN164891,0.195088,0.3363,rs12595504,0.73(T),0.001(B),,-0.9127(T),,chr15,34638198,34638198,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln21Arg/c.62A>G|1160|NUTM1|protein_coding|CODING|NM_001284292.1|2|1),5_prime_UTR_variant(MODIFIER||23|c.-23A>G|1132|NUTM1|protein_coding|CODING|NM_175741.2|2|1),intron_variant(MODIFIER|||c.71-1972A>G|1150|NUTM1|protein_coding|CODING|NM_001284293.1|1|1)",HepG2:H3K27me3,,,,0.2106,0.1801,0.1362,0.13,0.14,0.12,,,1.000(P),3.28(T),0.0000(T),0.018,-1.281719,4.92,-9.83,-1.073000,-2.468000,-3.054000,0.266000,0.000000,0.000000,5.5324
missense_variant,NUTM1,MISSENSE,NM_001284292.1:p.Pro50Leu/c.149C>T,cCg/cTg,MODERATE,,0.877796,1,rs374230,0.64(T),"0.002,0.001,0.002(B,B,B)",-1.905(N),-0.9745(T),,chr15,34640218,34640218,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro50Leu/c.149C>T|1160|NUTM1|protein_coding|CODING|NM_001284292.1|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro40Leu/c.119C>T|1150|NUTM1|protein_coding|CODING|NM_001284293.1|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro22Leu/c.65C>T|1132|NUTM1|protein_coding|CODING|NM_175741.2|3|1)","K562:H3K27me3,HepG2:H3K27me3",,,,1,0.9597,0.996,0.87,0.62,1.00,,0.917234(N),1.000(P),"2.95,2.95,2.95(T,T,T)",0.0000(T),0.09,-0.885743,5.17,-5.94,-1.251000,-1.024000,-0.105000,0.002000,0.000000,0.000000,0.8789
synonymous_variant,NUTM1,SILENT,NM_001284292.1:p.Asp103Asp/c.309T>C,gaT/gaC,LOW,COSM4148664(1),0.939696,1,rs430083,,,,,,chr15,34640378,34640378,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp103Asp/c.309T>C|1160|NUTM1|protein_coding|CODING|NM_001284292.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp93Asp/c.279T>C|1150|NUTM1|protein_coding|CODING|NM_001284293.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp75Asp/c.225T>C|1132|NUTM1|protein_coding|CODING|NM_175741.2|3|1)","K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9798,1,0.94,0.84,1.00,,,,,,,,,,,,,,,,
missense_variant,NUTM1,MISSENSE,NM_001284292.1:p.Ser909Ile/c.2726G>T,aGt/aTt,MODERATE,,0.121006,0.2867,rs57115249,0.01(D),"0.823,0.914,0.823(P,D,P)",1.59(L),-1.0677(T),,chr15,34648935,34648935,G,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser909Ile/c.2726G>T|1160|NUTM1|protein_coding|CODING|NM_001284292.1|8|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser899Ile/c.2696G>T|1150|NUTM1|protein_coding|CODING|NM_001284293.1|7|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser881Ile/c.2642G>T|1132|NUTM1|protein_coding|CODING|NM_175741.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.2248,0.0577,0.06,0.02,0.07,,0.095317(N),1.000(P),"2.65,2.63,2.65(T,T,T)",0.0000(T),0.316,3.527509,4.81,3.89,0.650000,1.229000,1.184000,0.281000,0.037000,0.012000,10.9934
missense_variant,NUTM1,MISSENSE,NM_001284292.1:p.Arg1141His/c.3422G>A,cGt/cAt,MODERATE,COSM4148667(1),0.121805,0.2907,rs2279685,0.01(D),"0.037,0.082,0.908(B,B,P)",2.14(M),-1.0696(T),,chr15,34649631,34649631,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg1141His/c.3422G>A|1160|NUTM1|protein_coding|CODING|NM_001284292.1|8|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg1131His/c.3392G>A|1150|NUTM1|protein_coding|CODING|NM_001284293.1|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg1113His/c.3338G>A|1132|NUTM1|protein_coding|CODING|NM_175741.2|8|1),downstream_gene_variant(MODIFIER||1458||524|LPCAT4|protein_coding|CODING|NM_153613.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.09,0.2277,0.0586,0.06,0.02,0.07,,0.147984(N),0.992(P),"0.85,0.85,0.85(T,T,T)",0.0000(T),0.281,2.791151,6.08,4.22,0.655000,0.921000,2.130000,0.855000,0.301000,0.999000,9.1913
missense_variant,GOLGA8A,MISSENSE,NM_181077.3:p.Val568Ile/c.1702G>A,Gtc/Atc,MODERATE,,,,rs347877,1(T),"0.001,0.0(B,B)",-2.445(N),-0.9608(T),,chr15,34673722,34673722,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val568Ile/c.1702G>A|603|GOLGA8A|protein_coding|CODING|NM_181077.3|16|1),downstream_gene_variant(MODIFIER||548|||MIR1233-1||NON_CODING|NR_036050.1||1),downstream_gene_variant(MODIFIER||548|||MIR1233-2||NON_CODING|NR_036261.1||1),non_coding_exon_variant(MODIFIER|||n.4073G>A||GOLGA8A||CODING|NR_027409.1|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(P),"2.29,2.29,2.29,2.29(T,T,T,T)",0.0000(T),0.075,-1.718415,0.514,0.514,-0.903000,-0.399000,1.839000,0.001000,0.003000,1.000000,.
synonymous_variant,GJD2,SILENT,NM_020660.2:p.Ser123Ser/c.369C>T,tcC/tcT,LOW,COSM3754274(1),0.0623003,0.0873,rs35174018,,,,,,chr15,35045276,35045276,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser123Ser/c.369C>T|321|GJD2|protein_coding|CODING|NM_020660.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.047,0.0476,0.0626,0.07,0.06,0.08,,,,,,,,,,,,,,,,
synonymous_variant,GJD2,SILENT,NM_020660.2:p.Thr111Thr/c.333A>T,acA/acT,LOW,,0.567692,0.4067,rs651724,,,,,,chr15,35045312,35045312,T,A,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr111Thr/c.333A>T|321|GJD2|protein_coding|CODING|NM_020660.2|2|1),upstream_gene_variant(MODIFIER||1973|||LOC101928174||NON_CODING|NR_120329.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,K562:Nrsf,HepG2:H3K27me3",,,,0.6288,0.5605,0.673,0.66,0.59,0.69,,,,,,,,,,,,,,,,
synonymous_variant,AQR,SILENT,NM_014691.2:p.Pro1481Pro/c.4443G>A,ccG/ccA,LOW,,0.977436,1,rs8035240,,,,,,chr15,35149008,35149008,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1481Pro/c.4443G>A|1485|AQR|protein_coding|CODING|NM_014691.2|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,C15orf41,SILENT,NM_001290233.1:p.Tyr141Tyr/c.423T>C,taT/taC,LOW,,0.190096,0.4137,rs7183415,,,,,,chr15,36983962,36983962,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr141Tyr/c.423T>C|281|C15orf41|protein_coding|CODING|NM_001130010.2|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr43Tyr/c.129T>C|183|C15orf41|protein_coding|CODING|NM_001290232.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr141Tyr/c.423T>C|286|C15orf41|protein_coding|CODING|NM_001290233.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr43Tyr/c.129T>C|183|C15orf41|protein_coding|CODING|NM_032499.5|7|1)",NHEK:H3K36me3,,,,0.2536,0.0893,0.0944,0.10,0.10,0.09,,,,,,,,,,,,,,,,
synonymous_variant,SPRED1,SILENT,NM_152594.2:p.Lys97Lys/c.291G>A,aaG/aaA,LOW,COSM4148687(1),0.80012,0.8026,rs7182445,,,,,,chr15,38614525,38614525,G,A,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys97Lys/c.291G>A|444|SPRED1|protein_coding|CODING|NM_152594.2|3|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000034273.2|RCV000041241.2,,0.8661,0.8401,0.9006,0.83,0.69,0.90,,,,,,,,,,,,,,,,
synonymous_variant,SPRED1,SILENT,NM_152594.2:p.Val348Val/c.1044T>C,gtT/gtC,LOW,COSM3999508(2),0.799521,0.8026,rs3751526,,,,,,chr15,38643574,38643574,T,C,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val348Val/c.1044T>C|444|SPRED1|protein_coding|CODING|NM_152594.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000034272.2|RCV000041236.2,,0.8661,0.8415,0.9006,0.83,0.69,0.90,,,,,,,,,,,,,,,,
synonymous_variant,RASGRP1,SILENT,NM_005739.3:p.Phe495Phe/c.1485T>C,ttT/ttC,LOW,,0.172324,0.006,rs12324402,,,,,,chr15,38794566,38794566,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe460Phe/c.1380T>C|762|RASGRP1|protein_coding|CODING|NM_001128602.1|11|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe495Phe/c.1485T>C|797|RASGRP1|protein_coding|CODING|NM_005739.3|12|1)","GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.229,0.1787,0.2624,0.24,0.20,0.26,,,,,,,,,,,,,,,,
missense_variant,C15orf53,MISSENSE,NM_207444.2:p.Leu3Val/c.7C>G,Cta/Gta,MODERATE,COSM147873(3),0.194089,0.0992,rs7165988,0(D),0.685(P),0(N),-0.9985(T),,chr15,38988815,38988815,C,G,het,missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu3Val/c.7C>G|179|C15orf53|protein_coding|CODING|NM_207444.2|1|1),"HUVEC:H3K27me3,CD4:H2BK5ac,CD4:DNase1,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3,CD4:H3K4me1,GM12878:DNase1,HepG2:H3K27me3",,,,0.2045,0.2536,0.2624,0.27,0.21,0.30,,,1.000(P),1.09(T),0.0000(T),0.046,0.444857,3.36,-0.565,-0.459000,-0.065000,-0.638000,0.002000,0.000000,0.000000,5.8987
synonymous_variant,THBS1,SILENT,NM_003246.2:p.Lys430Lys/c.1290G>A,aaG/aaA,LOW,COSM3754280(2),0.163339,0.2897,rs2229364,,,,,,chr15,39879717,39879717,G,A,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys430Lys/c.1290G>A|1170|THBS1|protein_coding|CODING|NM_003246.2|8|1),"H1ESC:PolII,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,IMR90:H4K20me1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.227,0.1167,0.1312,0.11,0.08,0.13,,,,,,,,,,,,,,,,
synonymous_variant,THBS1,SILENT,NM_003246.2:p.Asn470Asn/c.1410C>T,aaC/aaT,LOW,COSM147874(2),0.266773,0.2897,rs2228261,,,,,,chr15,39880358,39880358,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn470Asn/c.1410C>T|1170|THBS1|protein_coding|CODING|NM_003246.2|9|1),"H1ESC:PolII,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H4K20me1,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.227,0.1383,0.1312,0.22,0.39,0.13,,,,,,,,,,,,,,,,
missense_variant,THBS1,MISSENSE,NM_003246.2:p.Thr523Ala/c.1567A>G,Aca/Gca,MODERATE,COSM147875(4),0.274561,0.3056,rs2292305,0.9(T),0.0(B),-1.5(N),-0.9907(T),,chr15,39880822,39880822,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr523Ala/c.1567A>G|1170|THBS1|protein_coding|CODING|NM_003246.2|10|1),"H1ESC:PolII,H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H4K20me1,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.228,0.1412,0.1312,0.22,0.41,0.13,,0.557327(N),0.997(P),0.22(T),0.0000(T),0.16,0.924339,5.87,-2.47,-0.993000,-0.734000,0.374000,0.985000,0.617000,0.000000,7.117
missense_variant,FSIP1,MISSENSE,NM_152597.4:p.Gly528Ala/c.1583G>C,gGc/gCc,MODERATE,COSM147876(2),0.157348,0.2907,rs16969386,,0.965(D),0.895(L),-0.9196(T),,chr15,39910052,39910052,C,G,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly528Ala/c.1583G>C|581|FSIP1|protein_coding|CODING|NM_152597.4|11|1),"NHEK:H3K27ac,HMEC:H3K27ac,HepG2:H3K27me3",,,,0.2249,0.1196,0.1471,0.10,0.05,0.13,,0.001843(N),0.773(P),2.53(T),0.0000(T),0.261,3.467593,4.84,4.84,0.591000,2.669000,2.819000,0.980000,1.000000,1.000000,10.4881
missense_variant,FSIP1,MISSENSE,NM_152597.4:p.Leu411Phe/c.1231C>T,Ctt/Ttt,MODERATE,COSM3754281(3),0.157348,0.2907,rs12908846,,0.999(D),0.895(L),-1.0325(T),,chr15,39910404,39910404,G,A,hom,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu411Phe/c.1231C>T|581|FSIP1|protein_coding|CODING|NM_152597.4|11|1),"NHEK:H3K27ac,HMEC:H3K27ac,HMEC:DNase1",,,,0.2249,0.1196,0.1471,0.10,0.05,0.13,,0.001773(N),0.047(P),1.29(T),0.0000(T),0.205,3.987146,5.06,5.06,0.655000,2.785000,5.542000,0.994000,1.000000,1.000000,17.1261
missense_variant,FSIP1,MISSENSE,NM_152597.4:p.Cys402Arg/c.1204T>C,Tgt/Cgt,MODERATE,COSM147877(6),0.411941,0.3095,rs10152640,,0.0(B),-0.55(N),-1.0427(T),,chr15,39910431,39910431,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys402Arg/c.1204T>C|581|FSIP1|protein_coding|CODING|NM_152597.4|11|1),"NHEK:H3K27ac,HMEC:H3K27ac,HMEC:DNase1",,,,0.2822,0.2594,0.3072,0.41,0.64,0.30,,0.538597(N),1.000(P),2.85(T),0.0000(T),0.003,-1.857666,5.06,-0.452,-0.726000,-0.082000,-0.124000,0.012000,0.088000,0.001000,2.7672
synonymous_variant,EIF2AK4,SILENT,NM_001013703.3:p.Ile33Ile/c.99T>C,atT/atC,LOW,COSM3754282(6),0.960064,1,rs566792,,,,,,chr15,40226495,40226495,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile33Ile/c.99T>C|1649|EIF2AK4|protein_coding|CODING|NM_001013703.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.9939,0.9222,0.8688,0.90,0.97,0.86,,,,,,,,,,,,,,,,
missense_variant,EIF2AK4,MISSENSE,NM_001013703.3:p.Ile441Leu/c.1321A>C,Att/Ctt,MODERATE,COSM3736127(1),0.247404,0.5387,rs2291627,1(T),"0.007,0.002(B,B)",-0.63(N),-0.9380(T),,chr15,40259848,40259848,A,C,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile441Leu/c.1321A>C|1649|EIF2AK4|protein_coding|CODING|NM_001013703.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2065,0.134,0.0924,0.12,0.19,0.09,,0.004327(N),0.000(P),"-0.36,-0.36(T,T)",0.0000(T),0.196,0.138332,5.58,4.46,0.533000,1.052000,1.331000,0.798000,0.972000,1.000000,4.9105
missense_variant,EIF2AK4,MISSENSE,NM_001013703.3:p.Glu556Gly/c.1667A>G,gAa/gGa,MODERATE,,0.844449,0.7788,rs2307105,0.64(T),"0.0,0.0(B,B)",-1.61(N),-0.9629(T),,chr15,40265799,40265799,A,G,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu556Gly/c.1667A>G|1649|EIF2AK4|protein_coding|CODING|NM_001013703.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8395,0.6988,0.9463,0.94,0.90,0.96,,0.003390(N),0.000(P),"-0.45,-0.45(T,T)",0.0000(T),0.249,2.049686,5.93,4.97,-0.186000,1.535000,1.363000,0.974000,1.000000,0.941000,9.406
missense_variant,EIF2AK4,MISSENSE,NM_001013703.3:p.Gly1306Cys/c.3916G>T,Ggc/Tgc,MODERATE,COSM3754283(1),0.0698882,0.006,rs35602605,0.08(T),0.995(D),2.265(M),-1.2234(T),,chr15,40308859,40308859,G,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly1306Cys/c.3916G>T|1649|EIF2AK4|protein_coding|CODING|NM_001013703.3|28|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0695,0.0965,0.1769,0.14,0.05,0.18,,0.000000(D),0.000(P),"1.18,1.18(T,T)",0.0007(T),0.383,4.234060,5.52,5.52,0.643000,2.751000,7.807000,0.982000,1.000000,1.000000,19.8178
missense_variant,SRP14,MISSENSE,NM_003134.4:p.Pro124Ala/c.370C>G,Cca/Gca,MODERATE,,0.880591,0.7966,rs7535,1(T),0.0(B),0(N),-0.9854(T),,chr15,40328575,40328575,G,C,het,"missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro124Ala/c.370C>G|136|SRP14|protein_coding|CODING|NM_003134.4|5|1),downstream_gene_variant(MODIFIER||778||1649|EIF2AK4|protein_coding|CODING|NM_001013703.3||1),non_coding_exon_variant(MODIFIER|||n.482C>G||SRP14||CODING|NR_104021.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.907,0.9395,0.9284,0.91,0.87,0.93,,,1.000(P),2.81(T),0.0000(T),0.094,-0.727600,0.235,0.235,-0.647000,-0.656000,-0.490000,0.004000,0.004000,0.208000,.
synonymous_variant,SRP14,SILENT,NM_003134.4:p.Arg59Arg/c.175A>C,Aga/Cga,LOW,,0.0976438,0.0248,rs1059395,,,,,,chr15,40330518,40330518,T,G,het,"synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg59Arg/c.175A>C|136|SRP14|protein_coding|CODING|NM_003134.4|3|1),upstream_gene_variant(MODIFIER||994|||SRP14-AS1||NON_CODING|NR_040059.1||1),upstream_gene_variant(MODIFIER||994|||SRP14-AS1||NON_CODING|NR_040060.1||1),upstream_gene_variant(MODIFIER||994|||SRP14-AS1||NON_CODING|NR_040061.1||1),upstream_gene_variant(MODIFIER||994|||SRP14-AS1||NON_CODING|NR_040062.1||1),non_coding_exon_variant(MODIFIER|||n.247A>C||SRP14||CODING|NR_104021.1|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.093,0.1023,0.175,0.16,0.11,0.18,,,,,,,,,,,,,,,,
synonymous_variant,SRP14,SILENT,NM_003134.4:p.Lys43Lys/c.129G>A,aaG/aaA,LOW,,0.887181,0.7609,rs7321,,,,,,chr15,40330564,40330564,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys43Lys/c.129G>A|136|SRP14|protein_coding|CODING|NM_003134.4|3|1),upstream_gene_variant(MODIFIER||948|||SRP14-AS1||NON_CODING|NR_040059.1||1),upstream_gene_variant(MODIFIER||948|||SRP14-AS1||NON_CODING|NR_040060.1||1),upstream_gene_variant(MODIFIER||948|||SRP14-AS1||NON_CODING|NR_040061.1||1),upstream_gene_variant(MODIFIER||948|||SRP14-AS1||NON_CODING|NR_040062.1||1),non_coding_exon_variant(MODIFIER|||n.201G>A||SRP14||CODING|NR_104021.1|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.9039,0.9179,0.9284,0.93,0.94,0.93,,,,,,,,,,,,,,,,
missense_variant,BUB1B,MISSENSE,NM_001211.5:p.Arg349Gln/c.1046G>A,cGa/cAa,MODERATE,,0.628195,0.3462,rs1801376,1(T),"0.0,0.0(B,B)",-2.175(N),-0.9797(T),,chr15,40477831,40477831,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg349Gln/c.1046G>A|1050|BUB1B|protein_coding|CODING|NM_001211.5|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.6052,0.6928,0.74,0.81,0.70,,0.000047(N),1.000(P),"2.74,2.73(T,T)",0.0000(T),0.109,0.563973,5.85,4.72,-0.361000,0.466000,3.438000,0.917000,0.937000,0.998000,8.9752
synonymous_variant,BUB1B,SILENT,NM_001211.5:p.Ala388Ala/c.1164G>A,gcG/gcA,LOW,,0.190695,0.1627,rs1047130,,,,,,chr15,40488851,40488851,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala388Ala/c.1164G>A|1050|BUB1B|protein_coding|CODING|NM_001211.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2178,0.3242,0.327,0.23,0.07,0.31,,,,,,,,,,,,,,,,
missense_variant,C15orf56,MISSENSE,NM_001039905.2:p.Ile160Thr/c.479T>C,aTc/aCc,MODERATE,COSM3754285(4),0.158347,0.0873,rs55799438,0(D),0.001(B),0(N),-0.9545(T),,chr15,40544493,40544493,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile160Thr/c.479T>C|161|C15orf56|protein_coding|CODING|NM_001039905.2|2|1),upstream_gene_variant(MODIFIER||886||681|PAK6|protein_coding|CODING|NM_001276717.1||1),intron_variant(MODIFIER|||c.-117-886A>G|681|PAK6|protein_coding|CODING|NM_001128629.2|1|1),intron_variant(MODIFIER|||c.-117-886A>G|681|PAK6|protein_coding|CODING|NM_001128628.2|2|1),intron_variant(MODIFIER|||c.-117-886A>G|636|PAK6|protein_coding|CODING|NM_001276718.1|2|1),intron_variant(MODIFIER|||c.-117-886A>G|681|PAK6|protein_coding|CODING|NM_020168.5|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1963,0.1988,0.3072,0.22,0.08,0.28,,,1.000(P),1.55(T),0.0000(T),0.019,0.461713,3.57,-4.1,-1.212000,-1.570000,-0.657000,0.001000,0.000000,0.000000,3.4486
missense_variant,C15orf56,MISSENSE,NM_001039905.2:p.Pro151Arg/c.452C>G,cCg/cGg,MODERATE,COSM3749293(2),0.157548,0.0873,rs55974545,0(D),0.001(B),0(N),-0.9757(T),,chr15,40544520,40544520,G,C,hom,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro151Arg/c.452C>G|161|C15orf56|protein_coding|CODING|NM_001039905.2|2|1),upstream_gene_variant(MODIFIER||859||681|PAK6|protein_coding|CODING|NM_001276717.1||1),intron_variant(MODIFIER|||c.-117-859G>C|681|PAK6|protein_coding|CODING|NM_001128629.2|1|1),intron_variant(MODIFIER|||c.-117-859G>C|681|PAK6|protein_coding|CODING|NM_001128628.2|2|1),intron_variant(MODIFIER|||c.-117-859G>C|636|PAK6|protein_coding|CODING|NM_001276718.1|2|1),intron_variant(MODIFIER|||c.-117-859G>C|681|PAK6|protein_coding|CODING|NM_020168.5|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1953,0.1974,0.3052,0.19,0.07,0.26,,,1.000(P),1.42(T),0.0000(T),0.039,0.491199,2.99,-5.98,-1.012000,-3.001000,-0.609000,0.002000,0.000000,0.000000,1.2945
missense_variant,C15orf56,MISSENSE,NM_001039905.2:p.Pro119Ser/c.355C>T,Cca/Tca,MODERATE,COSM3754286(5),0.157947,0.0873,rs55863440,0(D),0.034(B),0(N),-0.9377(T),,chr15,40544617,40544617,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro119Ser/c.355C>T|161|C15orf56|protein_coding|CODING|NM_001039905.2|2|1),upstream_gene_variant(MODIFIER||762||681|PAK6|protein_coding|CODING|NM_001276717.1||1),intron_variant(MODIFIER|||c.-117-762G>A|681|PAK6|protein_coding|CODING|NM_001128629.2|1|1),intron_variant(MODIFIER|||c.-117-762G>A|681|PAK6|protein_coding|CODING|NM_001128628.2|2|1),intron_variant(MODIFIER|||c.-117-762G>A|636|PAK6|protein_coding|CODING|NM_001276718.1|2|1),intron_variant(MODIFIER|||c.-117-762G>A|681|PAK6|protein_coding|CODING|NM_020168.5|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1963,0.1988,0.3052,0.25,0.10,0.33,,,1.000(P),1.46(T),0.0000(T),0.05,1.932278,4.2,-3.04,-1.134000,-0.735000,-0.857000,0.000000,0.000000,0.000000,3.0052
synonymous_variant,ANKRD63,SILENT,NM_001190479.1:p.Thr371Thr/c.1113C>A,acC/acA,LOW,,0.326478,0.5972,rs12440450,,,,,,chr15,40573675,40573675,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr371Thr/c.1113C>A|380|ANKRD63|protein_coding|CODING|NM_001190479.1|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.184,0.2421,0.2296,,,,,,,,,,,,,,,,,,,
missense_variant,ANKRD63,MISSENSE,NM_001190479.1:p.Ser358Pro/c.1072T>C,Tct/Cct,MODERATE,,0.997005,1,rs4924446,1(T),,0(N),-0.9271(T),,chr15,40573716,40573716,A,G,hom,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser358Pro/c.1072T>C|380|ANKRD63|protein_coding|CODING|NM_001190479.1|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,,,,,,0.000(P),1.28(T),0.0000(T),0.161,-0.213984,3.82,3.82,-0.374000,0.820000,1.890000,0.921000,0.960000,1.000000,8.67
synonymous_variant,PLCB2,SILENT,NM_004573.2:p.Arg926Arg/c.2776C>A,Cgg/Agg,LOW,COSM3754288(3),0.161342,0.1518,rs62021888,,,,,,chr15,40583560,40583560,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg922Arg/c.2764C>A|1181|PLCB2|protein_coding|CODING|NM_001284297.1|26|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg911Arg/c.2731C>A|1170|PLCB2|protein_coding|CODING|NM_001284298.1|25|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg926Arg/c.2776C>A|1185|PLCB2|protein_coding|CODING|NM_004573.2|26|1)","HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K27me3,HeLa-S3:Max,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1,HeLa-S3:E2F6",,,,0.1595,0.2075,0.337,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLCB2,SILENT,NM_004573.2:p.Ser394Ser/c.1182C>T,agC/agT,LOW,COSM1158649(1),0.690495,0.7887,rs2229690,,,,,,chr15,40590134,40590134,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser394Ser/c.1182C>T|1181|PLCB2|protein_coding|CODING|NM_001284297.1|12|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser394Ser/c.1182C>T|1170|PLCB2|protein_coding|CODING|NM_001284298.1|12|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser394Ser/c.1182C>T|1185|PLCB2|protein_coding|CODING|NM_004573.2|12|1)","HUVEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.635,0.6744,0.4742,0.59,0.78,0.49,,,,,,,,,,,,,,,,
synonymous_variant,C15orf52,SILENT,NM_207380.2:p.Ser373Ser/c.1119C>T,agC/agT,LOW,COSM4148703(1),0.146366,0.0278,rs55641696,,,,,,chr15,40627845,40627845,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser373Ser/c.1119C>T|534|C15orf52|protein_coding|CODING|NM_207380.2|11|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1973,0.1686,0.2803,0.21,0.10,0.26,,,,,,,,,,,,,,,,
missense_variant,C15orf52,MISSENSE,NM_207380.2:p.Arg223Trp/c.667C>T,Cgg/Tgg,MODERATE,,0.0407348,0.003,rs78494549,0.01(D),"0.556,0.005,0.005(P,B,B)",1.5(L),-1.0453(T),,chr15,40630073,40630073,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg223Trp/c.667C>T|534|C15orf52|protein_coding|CODING|NM_207380.2|6|1),"HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me3",,,,0.0245,0.0778,0.1153,0.09,0.02,0.12,,0.257310(N),1.000(P),0.9(T),0.0024(T),0.301,3.358835,3.01,1.96,0.563000,1.704000,2.094000,0.165000,0.531000,0.997000,6.6395
missense_variant,DISP2,MISSENSE,NM_033510.1:p.Pro47Ala/c.139C>G,Ccc/Gcc,MODERATE,COSM3754290(1),0.726038,0.8274,rs1898883,1(T),0.0(B),-1.1(N),-1.0034(T),,chr15,40655845,40655845,C,G,hom,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro47Ala/c.139C>G|1401|DISP2|protein_coding|CODING|NM_033510.1|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7822,0.7435,0.6292,0.66,0.67,0.66,,0.175676(N),1.000(P),2.98(T),0.0000(T),0.036,-0.472695,5.17,4.26,-0.215000,0.783000,1.695000,0.991000,1.000000,0.981000,8.2234
missense_variant,DISP2,MISSENSE,NM_033510.1:p.Cys56Ser/c.167G>C,tGc/tCc,MODERATE,COSM4148711(2),0.613618,0.8085,rs1898882,0.6(T),0.005(B),1.39(L),-1.0634(T),,chr15,40655873,40655873,G,C,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys56Ser/c.167G>C|1401|DISP2|protein_coding|CODING|NM_033510.1|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6656,0.5994,0.4185,0.48,0.57,0.44,,0.310121(N),0.088(P),2.79(T),0.0000(T),0.173,3.538480,5.17,4.25,0.563000,1.387000,3.293000,0.998000,1.000000,1.000000,12.9322
synonymous_variant,DISP2,SILENT,NM_033510.1:p.Leu627Leu/c.1879C>T,Ctg/Ttg,LOW,COSM3754292(1),0.0435304,0.0179,rs8040755,,,,,,chr15,40660192,40660192,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu627Leu/c.1879C>T|1401|DISP2|protein_coding|CODING|NM_033510.1|8|1),"NHEK:CTCF,CD4:H2AZ,HeLa-S3:Cmyc,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,GM06990:H3K27me3,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,CD4:H2BK5me1,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,CD4:H3K4me1,K562:Rad21,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,CD4:HDAC1,HepG2:DNase1,HMEC:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0.0225,0.1066,0.0984,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,DISP2,SILENT,NM_033510.1:p.Ala751Ala/c.2253G>A,gcG/gcA,LOW,COSM433777(3),0.108427,0.0188,rs72733420,,,,,,chr15,40660566,40660566,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala751Ala/c.2253G>A|1401|DISP2|protein_coding|CODING|NM_033510.1|8|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:Max,HeLa-S3:Cmyc,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,HUVEC:Max,HeLa-S3:Max,CD4:DNase1,K562:CTCF,CD4:H2BK20ac,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:ELF1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:CTCFL,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,NH-A:CTCF,HeLa-S3:Ap2alpha,K562:ELF1,K562:Egr1,K562:Rad21,CD4:CTCF,H1ESC:Tcf12,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,CD4:HDAC1,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,K562:H2AZ,H1ESC:Rad21,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6,GM06990:CTCF",,,,0.1196,0.1354,0.1968,0.17,0.10,0.21,,,,,,,,,,,,,,,,
missense_variant,KNSTRN,MISSENSE,NM_033286.3:p.Ala40Glu/c.119C>A,gCg/gAg,MODERATE,,0.04373,0.0179,rs7164132,0.08(T),"0.285,0.999,0.285(B,D,B)",0.975(L),-1.1290(T),,chr15,40675155,40675155,C,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala40Glu/c.119C>A|286|KNSTRN|protein_coding|CODING|NM_001142761.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala40Glu/c.119C>A|241|KNSTRN|protein_coding|CODING|NM_001142762.1|1|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala40Glu/c.119C>A|316|KNSTRN|protein_coding|CODING|NM_033286.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Gabp,HeLa-S3:PolII,H1ESC:Yy1,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,K562:Sirt6,HeLa-S3:Ap2gamma,HepG2:H3K9ac,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.0225,0.1066,0.0984,0.09,0.02,0.12,,0.003486(N),0.699(P),"1.77,1.77,1.77(T,T,T)",0.0017(T),0.75,4.161228,4.77,3.78,0.655000,2.646000,1.029000,0.042000,0.998000,1.000000,9.7327
missense_variant,KNSTRN,MISSENSE,NM_033286.3:p.Arg75Leu/c.224G>T,cGc/cTc,MODERATE,COSM147878(1),0.0447284,0.0179,rs7169404,0.52(T),"0.061,0.087,0.061(B,B,B)",0.895(L),-1.0370(T),,chr15,40675443,40675443,G,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg75Leu/c.224G>T|286|KNSTRN|protein_coding|CODING|NM_001142761.1|2|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg75Leu/c.224G>T|241|KNSTRN|protein_coding|CODING|NM_001142762.1|2|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg75Leu/c.224G>T|316|KNSTRN|protein_coding|CODING|NM_033286.3|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.0225,0.1081,0.0974,0.09,0.02,0.12,,0.518125(N),1.000(P),"1.76,1.76,1.76(T,T,T)",0.0006(T),0.403,3.268139,4.71,0.511,0.561000,0.012000,-0.546000,0.345000,0.029000,0.000000,4.2114
missense_variant,KNSTRN,MISSENSE,NM_033286.3:p.Pro92Ser/c.274C>T,Ccc/Tcc,MODERATE,,0.0445288,0.0179,rs7169262,0.78(T),"0.007,0.003,0.004(B,B,B)",0.205(N),-1.0013(T),,chr15,40675493,40675493,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro92Ser/c.274C>T|286|KNSTRN|protein_coding|CODING|NM_001142761.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro92Ser/c.274C>T|241|KNSTRN|protein_coding|CODING|NM_001142762.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro92Ser/c.274C>T|316|KNSTRN|protein_coding|CODING|NM_033286.3|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.0225,0.1066,0.0974,0.09,0.02,0.12,,0.674383(N),1.000(P),"2.0,2.0,2.0(T,T,T)",0.0004(T),0.233,0.229217,4.89,-1.78,-3.374000,-0.709000,-0.494000,0.000000,0.000000,0.000000,2.6725
missense_variant,KNSTRN,MISSENSE,NM_033286.3:p.Ser232Gly/c.694A>G,Agt/Ggt,MODERATE,,0.028754,0,rs11541642,0.33(T),"0.004,0.001(B,B)",0.805(L),-0.9688(T),,chr15,40683702,40683702,A,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser232Gly/c.694A>G|286|KNSTRN|protein_coding|CODING|NM_001142761.1|7|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser232Gly/c.694A>G|316|KNSTRN|protein_coding|CODING|NM_033286.3|7|1),intron_variant(MODIFIER|||c.686-448A>G|241|KNSTRN|protein_coding|CODING|NM_001142762.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.0576,0.0865,0.08,0.02,0.11,,0.362374(N),1.000(D),"1.84,1.84(T,T)",0.0008(T),0.033,1.494747,5.18,1.33,0.533000,0.047000,0.296000,0.394000,0.978000,0.057000,1.7894
missense_variant,KNSTRN,MISSENSE,NM_001142761.1:p.Asn279Tyr/c.835A>T,Aat/Tat,MODERATE,,0.115415,0.0129,rs8036457,0(D),0.663(P),,-1.0600(T),,chr15,40685406,40685406,A,T,het,"missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn279Tyr/c.835A>T|286|KNSTRN|protein_coding|CODING|NM_001142761.1|9|1),intron_variant(MODIFIER|||c.*35-264A>T|241|KNSTRN|protein_coding|CODING|NM_001142762.1|7|1),intron_variant(MODIFIER|||c.823-264A>T|316|KNSTRN|protein_coding|CODING|NM_033286.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1043,0.0922,0.1431,0.16,0.17,0.15,,,1.000(P),1.83(T),0.0001(T),0.06,2.553931,3.55,0.0151,0.482000,-0.014000,0.611000,0.104000,0.001000,0.000000,5.6657
synonymous_variant,IVD,SILENT,NM_002225.3:p.Asp244Asp/c.732C>T,gaC/gaT,LOW,,0.0790735,0.0129,rs2229312,,,,-1.0339(T),,chr15,40705225,40705225,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp214Asp/c.642C>T|396|IVD|protein_coding|CODING|NM_001159508.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp244Asp/c.732C>T|426|IVD|protein_coding|CODING|NM_002225.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080001.1,,0.093,0.0821,0.1421,0.12,0.08,0.14,,,0.000(P),,0.0005(T),.,0.974946,5.66,5.66,0.591000,2.673000,0.420000,0.993000,1.000000,0.996000,7.4079
missense_variant,BAHD1,MISSENSE,NM_014952.4:p.Gln298Lys/c.892C>A,Cag/Aag,MODERATE,COSM433784(2),0.675719,0.7937,rs3803357,0.33(T),"0.033,0.015,0.033(B,B,B)",-0.345(N),-0.9880(T),,chr15,40751555,40751555,C,A,het,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln298Lys/c.892C>A|779|BAHD1|protein_coding|CODING|NM_001301132.1|2|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln298Lys/c.892C>A|780|BAHD1|protein_coding|CODING|NM_014952.4|2|1),intron_variant(MODIFIER|||n.119-4505C>A||BAHD1||CODING|NR_125372.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5961,0.6239,0.4742,0.59,0.75,0.50,,0.001996(N),0.964(P),0.39(T),0.0000(T),0.321,1.889719,5.62,4.65,0.655000,2.640000,1.582000,0.920000,0.998000,0.935000,10.5655
splice_donor_variant,C15orf57,protein_coding,NM_052849.3:c.1G>A,,HIGH,,0.85603,0.872,rs3803354,,,,,C15orf57:0.50(4);,chr15,40856989,40856989,C,T,hom,"splice_donor_variant(HIGH|||c.1G>A|134|C15orf57|protein_coding|CODING|NM_001289132.1|1|1),splice_donor_variant(HIGH|||c.1G>A|185|C15orf57|protein_coding|CODING|NM_052849.3|1|1),5_prime_UTR_variant(MODIFIER||10|c.-10G>A|194|C15orf57|protein_coding|CODING|NM_001080791.2|1|1),intron_variant(MODIFIER|||c.-13+1G>A|134|C15orf57|protein_coding|CODING|NM_001289132.1|1|1),intron_variant(MODIFIER|||c.-13+1G>A|185|C15orf57|protein_coding|CODING|NM_052849.3|1|1),intron_variant(MODIFIER|||c.-13+186G>A|185|C15orf57|protein_coding|CODING|NM_001080792.2|1|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,CD4:H2BK12ac,GM12878:H2AZ",,,,0.8722,0.9121,0.9304,0.88,0.78,0.93,,,,,,,,,,,,,,,,
missense_variant,CASC5,MISSENSE,NM_170589.4:p.Arg43Thr/c.128G>C,aGa/aCa,MODERATE,COSM147880(1),0.653754,0.3542,rs7177192,1(T),"0.0,0.0,0.0(B,B,B)",-1.04(N),-0.9683(T),,chr15,40898643,40898643,G,C,hom,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg43Thr/c.128G>C|2316|CASC5|protein_coding|CODING|NM_144508.4|4|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg43Thr/c.128G>C|2342|CASC5|protein_coding|CODING|NM_170589.4|4|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116558.1,,0.68,0.6124,0.8559,0.82,0.77,0.84,,0.065785(N),1.000(P),"1.93,1.93,1.93(T,T,T)",0.0000(T),0.032,-0.852082,4.65,-4.84,-1.123000,-1.200000,-0.480000,0.000000,0.001000,0.001000,2.2862
missense_variant,CASC5,MISSENSE,NM_170589.4:p.Thr113Ala/c.337A>G,Aca/Gca,MODERATE,COSM433785(1),0.705272,0.3532,rs12911738,0.82(T),"0.0,0.0,0.0(B,B,B)",-1.1(N),-0.9885(T),,chr15,40903684,40903684,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr87Ala/c.259A>G|2316|CASC5|protein_coding|CODING|NM_144508.4|7|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr113Ala/c.337A>G|2342|CASC5|protein_coding|CODING|NM_170589.4|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116567.1,,0.68,0.6225,0.8559,,,,,0.448590(N),1.000(P),"3.5,1.72,0.83(T,T,T)",0.0000(T),0.113,0.164667,3.8,3.8,-0.119000,1.180000,0.544000,0.630000,0.997000,0.445000,7.6321
missense_variant,CASC5,MISSENSE,NM_170589.4:p.Ala486Ser/c.1456G>T,Gct/Tct,MODERATE,,0.653954,0.3532,rs2412541,1(T),"0.0,0.0,0.0(B,B,B)",-2.005(N),-1.0324(T),,chr15,40913840,40913840,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala460Ser/c.1378G>T|2316|CASC5|protein_coding|CODING|NM_144508.4|10|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala486Ser/c.1456G>T|2342|CASC5|protein_coding|CODING|NM_170589.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116560.1,,0.68,0.6124,0.8559,0.82,0.77,0.84,,0.018846(N),1.000(P),"3.69,3.69(T,T)",0.0000(T),0.02,-1.417364,5.54,1.67,-0.539000,0.373000,-0.054000,0.622000,0.981000,0.001000,2.379
missense_variant,CASC5,MISSENSE,NM_170589.4:p.Met598Thr/c.1793T>C,aTg/aCg,MODERATE,COSM3754293(1),0.351438,0.254,rs11858113,0.15(T),"0.004,0.586,0.586(B,P,P)",2.25(M),-0.9381(T),,chr15,40914177,40914177,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met572Thr/c.1715T>C|2316|CASC5|protein_coding|CODING|NM_144508.4|10|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met598Thr/c.1793T>C|2342|CASC5|protein_coding|CODING|NM_170589.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116561.1,,0.4223,0.3285,0.3986,0.39,0.37,0.40,,0.084918(N),0.000(P),"2.16,2.16(T,T)",0.0000(T),0.096,0.462849,4.61,0.769,-1.246000,-0.322000,1.324000,0.508000,0.992000,1.000000,6.5485
synonymous_variant,CASC5,SILENT,NM_170589.4:p.Val796Val/c.2388C>T,gtC/gtT,LOW,COSM3754295(1),0.350839,0.254,rs11855334,,,,,,chr15,40914772,40914772,C,T,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val770Val/c.2310C>T|2316|CASC5|protein_coding|CODING|NM_144508.4|10|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val796Val/c.2388C>T|2342|CASC5|protein_coding|CODING|NM_170589.4|11|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116562.1,,0.4213,0.3285,0.3986,0.39,0.36,0.40,,,,,,,,,,,,,,,,
synonymous_variant,CASC5,SILENT,NM_170589.4:p.Thr887Thr/c.2661T>G,acT/acG,LOW,COSM3754296(1),0.351238,0.254,rs8041534,,,,,,chr15,40915045,40915045,T,G,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr861Thr/c.2583T>G|2316|CASC5|protein_coding|CODING|NM_144508.4|10|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr887Thr/c.2661T>G|2342|CASC5|protein_coding|CODING|NM_170589.4|11|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116565.1,,0.4243,0.3285,0.3976,0.39,0.37,0.40,,,,,,,,,,,,,,,,
missense_variant,CASC5,MISSENSE,NM_170589.4:p.Arg936Gly/c.2806A>G,Agg/Ggg,MODERATE,COSM147882(1),0.705671,0.3532,rs8040502,1(T),"0.0,0.0,0.0(B,B,B)",-2.085(N),-1.0146(T),,chr15,40915190,40915190,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg910Gly/c.2728A>G|2316|CASC5|protein_coding|CODING|NM_144508.4|10|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg936Gly/c.2806A>G|2342|CASC5|protein_coding|CODING|NM_170589.4|11|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.68,0.6225,0.8559,0.87,0.92,0.84,,0.169531(N),1.000(P),"2.57,2.57(T,T)",0.0000(T),0.021,0.153406,5.09,3.03,-0.226000,0.529000,0.612000,0.422000,0.735000,0.041000,7.4849
synonymous_variant,CASC5,SILENT,NM_170589.4:p.Asn1170Asn/c.3510T>C,aaT/aaC,LOW,COSM3754299(1),0.351837,0.254,rs11070285,,,,,,chr15,40915894,40915894,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1144Asn/c.3432T>C|2316|CASC5|protein_coding|CODING|NM_144508.4|10|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1170Asn/c.3510T>C|2342|CASC5|protein_coding|CODING|NM_170589.4|11|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116568.1,,0.4233,0.3285,0.3986,0.39,0.37,0.40,,,,,,,,,,,,,,,,
missense_variant,CASC5,MISSENSE,NM_170589.4:p.Thr1473Ala/c.4417A>G,Acc/Gcc,MODERATE,,0.0309505,0,rs16970911,0.68(T),"0.028,0.028,0.044(B,B,B)",0.805(L),-0.9019(T),,chr15,40916801,40916801,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1447Ala/c.4339A>G|2316|CASC5|protein_coding|CODING|NM_144508.4|10|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1473Ala/c.4417A>G|2342|CASC5|protein_coding|CODING|NM_170589.4|11|1)","HUVEC:H3K36me3,NHEK:H3K36me3",,RCV000116572.2,,0.0245,0.049,0.0934,0.07,0.02,0.09,,0.347669(N),1.000(N),"3.57,3.57(T,T)",0.0003(T),0.122,-0.448317,5.12,1.48,0.491000,0.056000,0.292000,0.005000,0.002000,0.000000,8.2843
missense_variant,RMDN3,MISSENSE,NM_018145.1:p.Gln33His/c.99G>T,caG/caT,MODERATE,COSM3754300(1),0.0199681,0,rs11558807,0.59(T),0.001(B),-0.205(N),-0.9992(T),,chr15,41046883,41046883,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln33His/c.99G>T|470|RMDN3|protein_coding|CODING|NM_018145.1|2|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,K562:H3K9ac,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0204,0.0274,0.0596,0.03,0.01,0.05,,0.219451(N),0.936(N),"1.45,1.45(T,T)",0.0035(T),0.309,2.447195,5.59,-0.296,-0.126000,0.115000,0.091000,0.940000,0.983000,0.996000,6.711
missense_variant,ZFYVE19,MISSENSE,NM_001077268.1:p.Ser376Ala/c.1126T>G,Tcc/Gcc,MODERATE,,0.807708,0.8968,rs690347,1(T),"0.0,0.0,0.0(B,B,B)",-2.175(N),-0.9584(T),,chr15,41105926,41105926,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser376Ala/c.1126T>G|471|ZFYVE19|protein_coding|CODING|NM_001077268.1|9|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser308Ala/c.922T>G|403|ZFYVE19|protein_coding|CODING|NM_001258420.1|8|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser201Ala/c.601T>G|296|ZFYVE19|protein_coding|CODING|NM_001258421.1|9|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser366Ala/c.1096T>G|461|ZFYVE19|protein_coding|CODING|NM_032850.4|10|1),downstream_gene_variant(MODIFIER||1717||200|PPP1R14D|protein_coding|CODING|NM_001130143.1||1),downstream_gene_variant(MODIFIER||1717||145|PPP1R14D|protein_coding|CODING|NM_017726.7||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.8386,0.7555,0.75,0.77,0.75,,0.000020(N),1.000(P),"1.61,1.61,1.61(T,T,T)",0.0000(T),0.307,1.144111,5.27,5.27,-0.371000,1.472000,5.701000,0.929000,1.000000,1.000000,14.4977
synonymous_variant,SPINT1,SILENT,NM_181642.2:p.Ser386Ser/c.1158T>C,agT/agC,LOW,COSM3754301(1),0.278754,0.1706,rs8028552,,,,,,chr15,41146880,41146880,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser370Ser/c.1110T>C|513|SPINT1|protein_coding|CODING|NM_001032367.1|7|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser370Ser/c.1110T>C|513|SPINT1|protein_coding|CODING|NM_003710.3|8|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser386Ser/c.1158T>C|529|SPINT1|protein_coding|CODING|NM_181642.2|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.1605,0.1614,0.1889,0.30,0.50,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SPINT1,SILENT,NM_181642.2:p.Tyr425Tyr/c.1275C>T,taC/taT,LOW,,0.853834,0.9901,rs659232,,,,,,chr15,41148199,41148199,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr409Tyr/c.1227C>T|513|SPINT1|protein_coding|CODING|NM_001032367.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr409Tyr/c.1227C>T|513|SPINT1|protein_coding|CODING|NM_003710.3|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr425Tyr/c.1275C>T|529|SPINT1|protein_coding|CODING|NM_181642.2|9|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.8558,0.8905,0.829,0.80,0.77,0.82,,,,,,,,,,,,,,,,
synonymous_variant,SPINT1,SILENT,NM_181642.2:p.Thr526Thr/c.1578G>C,acG/acC,LOW,,0.850839,0.9901,rs690458,,,,,,chr15,41149161,41149161,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr510Thr/c.1530G>C|513|SPINT1|protein_coding|CODING|NM_001032367.1|10|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr510Thr/c.1530G>C|513|SPINT1|protein_coding|CODING|NM_003710.3|11|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr526Thr/c.1578G>C|529|SPINT1|protein_coding|CODING|NM_181642.2|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.8558,0.889,0.83,0.80,0.75,0.82,,,,,,,,,,,,,,,,
missense_variant,EXD1,MISSENSE,NM_001286441.1:p.Thr547Ala/c.1639A>G,Act/Gct,MODERATE,,0.817692,0.9861,rs522063,1(T),"0.0,0.0,0.001(B,B,B)",-0.975(N),-0.9808(T),,chr15,41476209,41476209,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr547Ala/c.1639A>G|572|EXD1|protein_coding|CODING|NM_001286441.1|12|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr489Ala/c.1465A>G|514|EXD1|protein_coding|CODING|NM_152596.3|10|1)",GM12878:H3K27me3,,,,0.7802,0.8314,0.7286,0.74,0.76,0.73,,0.729474(N),1.000(P),"1.35,1.35(T,T)",0.0000(T),0.023,-2.313693,5.19,-8.2,-1.551000,-1.897000,-2.271000,0.002000,0.000000,0.000000,5.3328
synonymous_variant,EXD1,SILENT,NM_001286441.1:p.Thr461Thr/c.1383C>T,acC/acT,LOW,,0.523962,0.2907,rs386605878,,,,,,chr15,41476465,41476465,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr461Thr/c.1383C>T|572|EXD1|protein_coding|CODING|NM_001286441.1|12|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr403Thr/c.1209C>T|514|EXD1|protein_coding|CODING|NM_152596.3|10|1)",GM12878:H3K27me3,,,,0.5665,0.3833,0.4423,0.54,0.76,0.43,,,,,,,,,,,,,,,,
synonymous_variant,EXD1,SILENT,NM_001286441.1:p.Pro274Pro/c.822T>C,ccT/ccC,LOW,COSM1129217(2),0.341454,0.2788,rs1971131,,,,,,chr15,41483682,41483682,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro274Pro/c.822T>C|572|EXD1|protein_coding|CODING|NM_001286441.1|10|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro216Pro/c.648T>C|514|EXD1|protein_coding|CODING|NM_152596.3|8|1)",GM12878:H3K36me3,,,,0.3456,0.2161,0.171,0.28,0.51,0.16,,,,,,,,,,,,,,,,
missense_variant,NDUFAF1,MISSENSE,NM_016013.3:p.Glu176Lys/c.526G>A,Gag/Aag,MODERATE,,0.0129792,0,rs35227875,0.57(T),0.735(P),1.545(L),-0.9692(T),,chr15,41688732,41688732,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu176Lys/c.526G>A|327|NDUFAF1|protein_coding|CODING|NM_016013.3|2|1),non_coding_exon_variant(MODIFIER|||n.924G>A||NDUFAF1||CODING|NR_045620.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0174,0.0187,0.0338,0.03,0.01,0.04,,0.000563(D),0.999(D),0.19(T),0.0693(T),0.073,3.046861,4.7,3.7,0.449000,2.334000,3.900000,0.031000,0.920000,1.000000,14.6058
synonymous_variant,RTF1,SILENT,NM_015138.4:p.Lys251Lys/c.753A>G,aaA/aaG,LOW,,,,,,,,,,chr15,41757059,41757059,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys251Lys/c.753A>G|710|RTF1|protein_coding|CODING|NM_015138.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,RPAP1,SILENT,NM_015540.3:p.Arg1035Arg/c.3105G>A,agG/agA,LOW,COSM433825(1),0.298522,0.2758,rs3743031,,,,,,chr15,41813279,41813279,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg1035Arg/c.3105G>A|1393|RPAP1|protein_coding|CODING|NM_015540.3|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3967,0.3285,0.4324,0.34,0.18,0.43,,,,,,,,,,,,,,,,
missense_variant,RPAP1,MISSENSE,NM_015540.3:p.Gln825Glu/c.2473C>G,Cag/Gag,MODERATE,COSM4148740(1),0.975839,1,rs8027526,1(T),0.0(B),-2.095(N),-0.9341(T),,chr15,41815516,41815516,G,C,hom,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln825Glu/c.2473C>G|1393|RPAP1|protein_coding|CODING|NM_015540.3|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,1,0.97,0.92,1.00,,0.000000(N),1.000(P),-0.14(T),0.0000(T),0.108,-0.448900,5.7,5.7,-0.120000,1.419000,3.629000,0.227000,1.000000,1.000000,14.3788
missense_variant,RPAP1,MISSENSE,NM_015540.3:p.Arg582Gly/c.1744A>G,Agg/Ggg,MODERATE,COSM1372787(1),0.0658946,0,rs11630901,0(D),0.197(B),1.39(L),-1.0647(T),,chr15,41819367,41819367,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg582Gly/c.1744A>G|1393|RPAP1|protein_coding|CODING|NM_015540.3|13|1),splice_region_variant(LOW|||c.1744A>G|1393|RPAP1|protein_coding|CODING|NM_015540.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0358,0.1153,0.2008,0.14,0.04,0.19,,0.001513(N),0.251(P),-0.87(T),0.0002(T),0.46,2.977355,4.58,3.43,0.460000,0.862000,1.747000,0.957000,0.996000,0.997000,5.3683
missense_variant,RPAP1,MISSENSE,NM_015540.3:p.Glu506Lys/c.1516G>A,Gag/Aag,MODERATE,COSM147884(4),0.509984,0.3512,rs1200345,0.06(T),0.454(P),2.62(M),-0.8751(T),,chr15,41819716,41819716,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu506Lys/c.1516G>A|1393|RPAP1|protein_coding|CODING|NM_015540.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4427,0.5692,0.5179,0.55,0.63,0.50,,0.000000(D),0.000(P),-0.2(T),0.0000(T),0.322,4.642865,5.37,5.37,0.655000,2.692000,5.647000,0.815000,0.919000,1.000000,18.2506
synonymous_variant,RPAP1,SILENT,NM_015540.3:p.Arg358Arg/c.1074A>G,cgA/cgG,LOW,COSM4148745(1),0.511382,0.3542,rs111199544,,,,,,chr15,41821752,41821752,T,C,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg358Arg/c.1074A>G|1393|RPAP1|protein_coding|CODING|NM_015540.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4417,0.5692,0.5179,0.55,0.63,0.50,,,,,,,,,,,,,,,,
synonymous_variant,RPAP1,SILENT,NM_015540.3:p.Leu32Leu/c.94T>C,Ttg/Ctg,LOW,,0.391374,0.4464,rs721772,,,,,,chr15,41829230,41829230,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu32Leu/c.94T>C|1393|RPAP1|protein_coding|CODING|NM_015540.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5286,0.3862,0.5199,0.42,0.23,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TYRO3,SILENT,NM_006293.3:p.Ala249Ala/c.747T>C,gcT/gcC,LOW,,0.267173,0.1736,rs2277536,,,,,,chr15,41857303,41857303,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala249Ala/c.747T>C|890|TYRO3|protein_coding|CODING|NM_006293.3|6|1),"H1ESC:H3K36me3,GM06990:H3K27me3,K562:H3K4me1,K562:H3K36me3,IMR90:H3K36me3,H1ESC:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.319,0.4063,0.3082,0.26,0.20,0.29,,,,,,,,,,,,,,,,
missense_variant,TYRO3,MISSENSE,NM_006293.3:p.Ile346Asn/c.1037T>A,aTc/aAc,MODERATE,COSM1372795(2),0.154752,0.0109,rs12148316,0.43(T),0.133(B),1.39(L),-1.0517(T),,chr15,41860490,41860490,T,A,het,missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile346Asn/c.1037T>A|890|TYRO3|protein_coding|CODING|NM_006293.3|8|1),"H1ESC:PolII,HepG2:H3K4me2,IMR90:H4K5ac,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,H1ESC:H4K5ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac",,,,0.2342,0.1671,0.2922,0.23,0.12,0.29,,0.027971(N),0.170(P),-0.67(T),0.0000(T),0.403,1.659473,5.09,3.95,0.533000,0.938000,0.484000,0.998000,0.999000,0.370000,8.7958
missense_variant,MGA,MISSENSE,NM_001164273.1:p.Thr716Ser/c.2146A>T,Act/Tct,MODERATE,,0.759385,0.8909,rs2178004,1(T),"0.002,0.001(B,B)",,-0.9435(T),,chr15,41991315,41991315,A,T,hom,"missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr716Ser/c.2146A>T|2856|MGA|protein_coding|CODING|NM_001080541.2|5|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr716Ser/c.2146A>T|3065|MGA|protein_coding|CODING|NM_001164273.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.8384,0.8256,0.835,0.75,0.56,0.83,,0.000390(N),1.000(P),"1.08,1.08,1.08(T,T,T)",0.0000(T),0.043,-0.529880,4.95,-0.188,-0.364000,-0.227000,0.756000,0.593000,0.994000,0.994000,1.6685
synonymous_variant,MGA,SILENT,NM_001164273.1:p.Asp1296Asp/c.3888C>T,gaC/gaT,LOW,,0.748203,0.8919,rs1918314,,,,,,chr15,42026764,42026764,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1296Asp/c.3888C>T|2856|MGA|protein_coding|CODING|NM_001080541.2|12|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1296Asp/c.3888C>T|3065|MGA|protein_coding|CODING|NM_001164273.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7597,0.8242,0.8161,0.74,0.57,0.81,,,,,,,,,,,,,,,,
missense_variant,MGA,MISSENSE,NM_001164273.1:p.Pro1523Ala/c.4567C>G,Cca/Gca,MODERATE,,0.301318,0.1875,rs17677991,0.02(D),"0.138,0.573,0.058(B,P,B)",0.55(N),-1.1398(T),,chr15,42032383,42032383,C,G,het,"missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro1523Ala/c.4567C>G|2856|MGA|protein_coding|CODING|NM_001080541.2|14|1),missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro1523Ala/c.4567C>G|3065|MGA|protein_coding|CODING|NM_001164273.1|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3436,0.4597,0.3797,0.31,0.23,0.35,,0.006068(N),0.312(P),"-2.08,-2.09,-3.53(D,D,D)",0.0000(T),0.345,1.520149,6.08,4.22,-0.218000,0.919000,1.448000,0.940000,0.990000,1.000000,8.768
synonymous_variant,MGA,SILENT,NM_001164273.1:p.Lys1969Lys/c.5907G>A,aaG/aaA,LOW,,0.700879,0.8909,rs2695163,,,,,,chr15,42041712,42041712,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1760Lys/c.5280G>A|2856|MGA|protein_coding|CODING|NM_001080541.2|16|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1969Lys/c.5907G>A|3065|MGA|protein_coding|CODING|NM_001164273.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7597,0.8055,0.8161,0.70,0.45,0.81,,,,,,,,,,,,,,,,
missense_variant,MAPKBP1,MISSENSE,NM_001128608.1:p.Leu313Val/c.937C>G,Ctt/Gtt,MODERATE,,0.305112,0.2073,rs1201689,0.39(T),"0.038,0.013,0.003,0.018(B,B,B,B)",0.805(L),-0.9439(T),,chr15,42105918,42105918,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu313Val/c.937C>G|1514|MAPKBP1|protein_coding|CODING|NM_001128608.1|10|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu307Val/c.919C>G|1231|MAPKBP1|protein_coding|CODING|NM_001265611.1|9|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu307Val/c.919C>G|1508|MAPKBP1|protein_coding|CODING|NM_014994.2|9|1),non_coding_exon_variant(MODIFIER|||n.1205C>G||MAPKBP1||CODING|NR_049761.1|9|1),non_coding_exon_variant(MODIFIER|||n.1113C>G||MAPKBP1||CODING|NR_049762.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2975,0.232,0.3907,0.37,0.34,0.39,,0.006154(N),0.000(P),"5.03,0.52,5.02,5.02(T,T,T,T)",0.0000(T),0.131,1.745410,5.64,4.72,0.651000,1.374000,1.438000,0.976000,1.000000,1.000000,10.5005
synonymous_variant,MAPKBP1,SILENT,NM_001128608.1:p.Val573Val/c.1719T>C,gtT/gtC,LOW,COSM1129211(2),0.769768,0.3185,rs1197689,,,,,,chr15,42109223,42109223,T,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val573Val/c.1719T>C|1514|MAPKBP1|protein_coding|CODING|NM_001128608.1|15|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val567Val/c.1701T>C|1231|MAPKBP1|protein_coding|CODING|NM_001265611.1|14|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val567Val/c.1701T>C|1508|MAPKBP1|protein_coding|CODING|NM_014994.2|14|1),non_coding_exon_variant(MODIFIER|||n.1797T>C||MAPKBP1||CODING|NR_049761.1|13|1),non_coding_exon_variant(MODIFIER|||n.1748T>C||MAPKBP1||CODING|NR_049762.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8558,0.8127,0.8718,0.88,0.93,0.85,,,,,,,,,,,,,,,,
missense_variant,MAPKBP1,MISSENSE,NM_001128608.1:p.Arg1240Pro/c.3719G>C,cGt/cCt,MODERATE,COSM4148757(1),0.234026,0.1796,rs3959569,0.24(T),"0.001,0.28,0.147,0.002,0.004(B,B,B,B,B)",0.55(N),-0.9627(T),,chr15,42115747,42115747,G,C,het,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg1240Pro/c.3719G>C|1514|MAPKBP1|protein_coding|CODING|NM_001128608.1|30|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg1234Pro/c.3701G>C|1508|MAPKBP1|protein_coding|CODING|NM_014994.2|29|1),intron_variant(MODIFIER|||c.3382+543G>C|1231|MAPKBP1|protein_coding|CODING|NM_001265611.1|28|1),non_coding_exon_variant(MODIFIER|||n.3797G>C||MAPKBP1||CODING|NR_049761.1|28|1),non_coding_exon_variant(MODIFIER|||n.3748G>C||MAPKBP1||CODING|NR_049762.1|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3129,0.4121,0.3479,0.25,0.09,0.33,,0.638738(N),1.000(P),"1.18,1.32,0.98,1.23(T,T,T,T)",0.0000(T),0.043,1.109421,5.82,-0.625,-2.487000,-0.686000,-0.783000,0.001000,0.000000,0.000000,7.306
synonymous_variant,JMJD7-PLA2G4B,SILENT,NM_005090.3:p.Asp517Asp/c.1551C>T,gaC/gaT,LOW,COSM3765811(2),0.755391,0.879,rs1672466,,,,,,chr15,42135988,42135988,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp286Asp/c.858C>T|781|PLA2G4B|protein_coding|CODING|NM_001114633.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp517Asp/c.1551C>T|893|JMJD7-PLA2G4B|protein_coding|CODING|NM_001198588.1|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp517Asp/c.1551C>T|1012|JMJD7-PLA2G4B|protein_coding|CODING|NM_005090.3|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7597,0.8228,0.8171,0.75,0.62,0.81,,,,,,,,,,,,,,,,
synonymous_variant,JMJD7-PLA2G4B,SILENT,NM_005090.3:p.Arg783Arg/c.2349G>A,agG/agA,LOW,,0.23742,0.0179,rs1197669,,,,,,chr15,42138456,42138456,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg552Arg/c.1656G>A|781|PLA2G4B|protein_coding|CODING|NM_001114633.1|17|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg783Arg/c.2349G>A|893|JMJD7-PLA2G4B|protein_coding|CODING|NM_001198588.1|22|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg783Arg/c.2349G>A|1012|JMJD7-PLA2G4B|protein_coding|CODING|NM_005090.3|22|1),downstream_gene_variant(MODIFIER||1888||3674|SPTBN5|protein_coding|CODING|NM_016642.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2618,0.2061,0.331,0.32,0.32,0.32,,,,,,,,,,,,,,,,
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Asn3564Thr/c.10691A>C,aAc/aCc,MODERATE,COSM147886(1),0.78155,0.3998,rs1197665,0.72(T),,,-1.0044(T),,chr15,42143533,42143533,T,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn3564Thr/c.10691A>C|3674|SPTBN5|protein_coding|CODING|NM_016642.3|64|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8415,0.9105,0.91,0.88,0.92,,0.026879(N),1.000(P),1.66(T),0.0000(T),0.015,-1.667615,3.04,-1.3,-0.979000,-0.828000,-1.735000,0.000000,0.000000,0.000000,3.5269
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Ala3275Gly/c.9824C>G,gCc/gGc,MODERATE,COSM4148758(1),0.294329,0.0337,rs1197660,0.4(T),0.279(B),2.32(M),-0.9211(T),,chr15,42145936,42145936,G,C,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala3275Gly/c.9824C>G|3674|SPTBN5|protein_coding|CODING|NM_016642.3|58|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3354,0.2349,0.3489,0.36,0.42,0.34,,0.020856(N),1.000(P),1.36(T),0.0000(T),0.293,2.695561,4.74,2.86,0.313000,0.542000,2.647000,0.058000,0.146000,0.909000,9.1685
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Gln2862Arg/c.8585A>G,cAa/cGa,MODERATE,,0.524361,0.9544,rs1456235,0.13(T),0.004(B),1.01(L),-0.9952(T),,chr15,42149472,42149472,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln2862Arg/c.8585A>G|3674|SPTBN5|protein_coding|CODING|NM_016642.3|51|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5644,0.647,0.5467,0.42,0.16,0.54,,0.973790(N),1.000(P),0.74(T),0.0000(T),0.039,-1.392953,3.76,-3.38,0.383000,-0.198000,0.010000,0.042000,0.002000,0.003000,1.4134
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Gln2851Glu/c.8551C>G,Cag/Gag,MODERATE,,0.470847,0.9454,rs12442525,0.04(D),0.127(B),1.6(L),-1.0237(T),,chr15,42149506,42149506,G,C,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln2851Glu/c.8551C>G|3674|SPTBN5|protein_coding|CODING|NM_016642.3|51|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4489,0.5951,0.4712,0.36,0.13,0.47,,0.215395(N),1.000(P),1.42(T),0.0000(T),0.149,0.867948,4.53,3.54,0.467000,2.063000,2.774000,0.897000,0.208000,0.997000,13.9202
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Gly2821Arg/c.8461G>C,Ggg/Cgg,MODERATE,,0.253594,0.0377,rs1197675,0.56(T),0.139(B),0.835(L),-0.9553(T),,chr15,42149596,42149596,C,G,het,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly2821Arg/c.8461G>C|3674|SPTBN5|protein_coding|CODING|NM_016642.3|51|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2505,0.2133,0.333,0.32,0.34,0.30,,0.655213(N),1.000(P),0.69(T),0.0000(T),0.057,-1.085141,4.31,2.42,-0.366000,0.443000,0.435000,0.017000,0.002000,0.001000,3.84
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Thr2713Ile/c.8138C>T,aCa/aTa,MODERATE,COSM86376(4),0.226238,0.0357,rs890503,0.56(T),0.212(B),0.205(N),-0.9593(T),,chr15,42150888,42150888,G,A,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr2713Ile/c.8138C>T|3674|SPTBN5|protein_coding|CODING|NM_016642.3|49|1),"HUVEC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2423,0.2061,0.325,0.31,0.31,0.31,,0.000214(D),0.986(P),0.89(T),0.0000(T),0.095,1.345440,4.94,4.03,0.467000,1.067000,5.383000,0.007000,0.094000,1.000000,10.4904
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Arg2229Trp/c.6685C>T,Cgg/Tgg,MODERATE,COSM433849(2),0.0181709,0.001,rs56198158,0(D),0.008(B),2.17(M),-0.9544(T),,chr15,42158373,42158373,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg2229Trp/c.6685C>T|3674|SPTBN5|protein_coding|CODING|NM_016642.3|38|1),downstream_gene_variant(MODIFIER||320|||MIR4310||NON_CODING|NR_036195.1||1)","HepG2:H3K4me2,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.0174,0.0231,0.0537,0.04,0.01,0.06,,0.581442(N),1.000(N),0.46(T),0.0216(T),0.178,1.139534,4.68,-2.78,-1.334000,-0.421000,0.278000,0.315000,0.792000,0.011000,9.5161
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Arg2116Gln/c.6347G>A,cGg/cAg,MODERATE,COSM3754305(2),0.141973,0.0446,rs2290553,0.57(T),0.017(B),0.755(N),-1.0681(T),,chr15,42159290,42159290,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2116Gln/c.6347G>A|3674|SPTBN5|protein_coding|CODING|NM_016642.3|36|1),upstream_gene_variant(MODIFIER||541|||MIR4310||NON_CODING|NR_036195.1||1)","GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2249,0.1671,0.2833,0.18,0.06,0.23,,0.147432(N),1.000(P),0.85(T),0.0000(T),0.115,1.003238,4.61,-4.26,-0.389000,-0.666000,-0.487000,0.114000,0.000000,0.000000,6.4787
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Arg1560His/c.4679G>A,cGc/cAc,MODERATE,,0.395168,0.7034,rs12593397,0.27(T),0.001(B),0.28(N),-0.9627(T),,chr15,42166500,42166500,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1560His/c.4679G>A|3674|SPTBN5|protein_coding|CODING|NM_016642.3|24|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4162,0.5101,0.4483,0.33,0.11,0.44,,0.462280(N),1.000(P),0.69(T),0.0000(T),0.052,0.544443,4.91,-5.21,-0.904000,-0.897000,0.404000,0.009000,0.000000,0.104000,4.544
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Arg1345His/c.4034G>A,cGc/cAc,MODERATE,,0.156949,0.0476,rs2290559,0.01(D),0.493(P),0(N),-0.9862(T),,chr15,42168400,42168400,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1345His/c.4034G>A|3674|SPTBN5|protein_coding|CODING|NM_016642.3|21|1),"GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2372,0.1888,0.3121,0.24,0.09,0.31,,0.428223(N),1.000(P),0.77(T),0.0000(T),0.101,3.300924,4.94,3.0,-0.147000,0.562000,4.573000,0.000000,0.000000,0.979000,14.2271
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.Cys1035Arg/c.3103T>C,Tgc/Cgc,MODERATE,COSM4148762(1),0.879992,0.9712,rs1197683,0.9(T),,,-0.9558(T),,chr15,42171537,42171537,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys1035Arg/c.3103T>C|3674|SPTBN5|protein_coding|CODING|NM_016642.3|16|1),"GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8139,0.8905,0.8748,0.86,0.85,0.86,,0.852570(N),1.000(P),-0.5(T),0.0000(T),0.031,-0.337161,4.71,2.82,-0.642000,0.088000,0.735000,0.134000,0.013000,0.001000,4.9713
missense_variant,SPTBN5,MISSENSE,NM_016642.3:p.His433Arg/c.1298A>G,cAc/cGc,MODERATE,COSM3754307(2),0.872604,0.9762,rs1210795,0.91(T),,,-0.9828(T),,chr15,42178155,42178155,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His433Arg/c.1298A>G|3674|SPTBN5|protein_coding|CODING|NM_016642.3|7|1),"HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7914,0.8862,0.8459,0.85,0.86,0.84,,0.610883(N),1.000(P),0.99(T),0.0000(T),0.012,-2.845703,4.65,1.62,-1.574000,-0.172000,0.020000,0.023000,0.092000,0.006000,8.9534
synonymous_variant,EHD4,SILENT,NM_139265.3:p.Phe282Phe/c.846T>C,ttT/ttC,LOW,,0.453075,0.1052,rs1704396,,,,,,chr15,42211486,42211486,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe282Phe/c.846T>C|541|EHD4|protein_coding|CODING|NM_139265.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4908,0.3775,0.5,0.54,0.64,0.49,,,,,,,,,,,,,,,,
synonymous_variant,PLA2G4E,SILENT,NM_001206670.1:p.Gly539Gly/c.1617C>T,ggC/ggT,LOW,,0.423722,0.2927,rs1668579,,,,,,chr15,42281719,42281719,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly539Gly/c.1617C>T|868|PLA2G4E|protein_coding|CODING|NM_001206670.1|15|1),intron_variant(MODIFIER|||n.544-7618G>A||LOC101928388||NON_CODING|NR_120334.1|3|1)","NHEK:CTCF,HeLa-S3:DNase1,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:H3K27me3,NH-A:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.4898,0.2291,0.2803,0.37,0.58,0.26,,,,,,,,,,,,,,,,
synonymous_variant,PLA2G4E,SILENT,NM_001206670.1:p.Thr409Thr/c.1227C>T,acC/acT,LOW,COSM3999525(1),0.658347,0.5704,rs1668586,,,,,,chr15,42287578,42287578,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr409Thr/c.1227C>T|868|PLA2G4E|protein_coding|CODING|NM_001206670.1|12|1),intron_variant(MODIFIER|||n.544-1759G>A||LOC101928388||NON_CODING|NR_120334.1|3|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7403,0.6816,0.8479,0.78,0.59,0.87,,,,,,,,,,,,,,,,
synonymous_variant,PLA2G4E,SILENT,NM_001206670.1:p.Gly28Gly/c.84C>T,ggC/ggT,LOW,,0.104233,0.1081,rs1668545,,,,,,chr15,42342818,42342818,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly28Gly/c.84C>T|868|PLA2G4E|protein_coding|CODING|NM_001206670.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1933,0.0288,0.0865,,,,,,,,,,,,,,,,,,,
missense_variant,PLA2G4E,MISSENSE,NM_001206670.1:p.Glu26Asp/c.78A>C,gaA/gaC,MODERATE,,0.104233,0.1081,rs1668546,0.09(T),,0.695(N),-0.8911(T),,chr15,42342824,42342824,T,G,het,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu26Asp/c.78A>C|868|PLA2G4E|protein_coding|CODING|NM_001206670.1|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1933,0.0288,0.0865,,,,,,0.833(P),4.93(T),0.0001(T),0.047,2.091078,4.82,1.26,-0.375000,0.113000,0.685000,0.102000,0.085000,0.818000,4.1327
missense_variant,PLA2G4D,MISSENSE,NM_178034.3:p.Ser434Thr/c.1300T>A,Tcc/Acc,MODERATE,COSM1162389(8),0.29992,0.3958,rs4924618,0.37(T),0.033(B),1.01(L),-0.9510(T),,chr15,42371752,42371752,A,T,het,missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser434Thr/c.1300T>A|818|PLA2G4D|protein_coding|CODING|NM_178034.3|13|1),"K562:Max,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:E2F6,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.2188,0.4726,0.3429,0.30,0.20,0.35,,0.594335(N),0.984(P),3.61(T),0.0000(T),0.044,2.179065,5.0,1.28,0.459000,-0.029000,0.628000,0.987000,0.183000,0.086000,3.7273
synonymous_variant,PLA2G4F,SILENT,NM_213600.3:p.Asn826Asn/c.2478C>T,aaC/aaT,LOW,COSM3754310(2),0.399361,0.3452,rs655427,,,,,,chr15,42434254,42434254,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn826Asn/c.2478C>T|849|PLA2G4F|protein_coding|CODING|NM_213600.3|20|1),non_coding_exon_variant(MODIFIER|||n.2497C>T||PLA2G4F||CODING|NR_033151.1|19|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2945,0.415,0.5487,0.49,0.41,0.53,,,,,,,,,,,,,,,,
missense_variant,PLA2G4F,MISSENSE,NM_213600.3:p.Met740Val/c.2218A>G,Atg/Gtg,MODERATE,,0.814297,0.87,rs1356410,0.24(T),"0.0,0.0(B,B)",0.14(N),-1.0187(T),,chr15,42434837,42434837,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met740Val/c.2218A>G|849|PLA2G4F|protein_coding|CODING|NM_213600.3|19|1),non_coding_exon_variant(MODIFIER|||n.2237A>G||PLA2G4F||CODING|NR_033151.1|18|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8517,0.7622,0.663,0.73,0.84,0.67,,0.739553(N),1.000(P),"3.02,3.02(T,T)",0.0000(T),0.035,0.804122,4.69,-9.38,-0.649000,-1.883000,-1.352000,0.884000,0.006000,0.000000,1.8257
missense_variant,GANC,MISSENSE,NM_198141.2:p.Leu11Val/c.31C>G,Ctt/Gtt,MODERATE,,0.954473,0.9415,rs8043515,1(T),"0.0,0.0(B,B)",-1.085(N),-0.9861(T),,chr15,42568547,42568547,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu11Val/c.31C>G|914|GANC|protein_coding|CODING|NM_198141.2|2|1),splice_region_variant(LOW|||c.31C>G|914|GANC|protein_coding|CODING|NM_198141.2|2|1)","HepG2:H3K4me2,HMEC:H3K9ac,GM12878:H3K4me3,HepG2:H3K27ac,HMEC:H3K27ac,HMEC:H3K4me2,K562:H3K9ac,NHEK:H3K36me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.9264,0.9942,0.999,0.98,0.94,1.00,,0.041621(N),1.000(P),"2.14,2.14(T,T)",0.0000(T),0.233,-1.487876,4.37,1.0,-0.187000,0.111000,1.626000,0.506000,0.992000,1.000000,6.5568
missense_variant,GANC,MISSENSE,NM_198141.2:p.Gln44Arg/c.131A>G,cAg/cGg,MODERATE,COSM3754314(1),0.644369,0.8423,rs8024732,1(T),"0.001,0.001,0.0(B,B,B)",-0.64(N),-0.9805(T),,chr15,42570718,42570718,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln44Arg/c.131A>G|914|GANC|protein_coding|CODING|NM_198141.2|3|1),"K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.637,0.6254,0.8668,0.72,0.44,0.86,,0.024488(N),0.766(P),"2.32,2.32(T,T)",0.0000(T),0.149,-1.652020,5.44,-2.85,-0.353000,-0.763000,-0.262000,0.015000,0.454000,0.952000,10.9723
synonymous_variant,GANC,SILENT,NM_198141.2:p.Asn87Asn/c.261T>C,aaT/aaC,LOW,,0.872404,0.9415,rs8037627,,,,,,chr15,42579948,42579948,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn87Asn/c.261T>C|914|GANC|protein_coding|CODING|NM_198141.2|4|1),"HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,0.9264,0.9755,0.996,0.90,0.72,1.00,,,,,,,,,,,,,,,,
missense_variant,GANC,MISSENSE,NM_198141.2:p.Asp443Glu/c.1329T>A,gaT/gaA,MODERATE,,0.0285543,0,rs2578652,0.14(T),0.773(P),1.125(L),-0.4745(T),,chr15,42618531,42618531,T,A,hom,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp443Glu/c.1329T>A|914|GANC|protein_coding|CODING|NM_198141.2|12|1),"HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0245,0.1024,0.07,0.02,0.09,,0.000000(D),0.000(P),-3.11(D),0.0712(T),0.281,4.158527,5.38,1.87,0.533000,0.067000,0.401000,0.997000,0.998000,0.997000,9.5455
synonymous_variant,TUBGCP4,SILENT,NM_001286414.1:p.Ile418Ile/c.1254C>T,atC/atT,LOW,,0.000998403,0,rs186788196,,,,,,chr15,43689494,43689494,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile418Ile/c.1254C>T|667|TUBGCP4|protein_coding|CODING|NM_001286414.1|12|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile418Ile/c.1254C>T|666|TUBGCP4|protein_coding|CODING|NM_014444.3|12|1),intron_variant(MODIFIER|||n.34+6075C>T||RNU6-28P||NON_CODING|NR_046489.1.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.005,0.00,0.00,0.00,,,,,,,,,,,,,,,,
splice_acceptor_variant,CATSPER2P1,,NR_002318.2:n.401A>T,,HIGH,,0.00898562,0,rs117091329,,,,,,chr15,44036768,44036768,T,A,hom,"splice_acceptor_variant(HIGH|||n.401A>T||CATSPER2P1||NON_CODING|NR_002318.2|3|1),upstream_gene_variant(MODIFIER||1822||505|PDIA3|protein_coding|CODING|NM_005313.4||1),intron_variant(MODIFIER|||n.401-2A>T||CATSPER2P1||NON_CODING|NR_002318.2|2|1)","GM12878:H3K27ac,NHEK:H3K36me3",,,,0.0051,0.0029,0.0358,,,,,,,,,,,,,,,,,,,
synonymous_variant,PDIA3,SILENT,NM_005313.4:p.Ala54Ala/c.162C>T,gcC/gcT,LOW,COSM433931(3),0.549121,0.6944,rs2411284,,,,,,chr15,44038899,44038899,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala54Ala/c.162C>T|505|PDIA3|protein_coding|CODING|NM_005313.4|1|1),upstream_gene_variant(MODIFIER||403|||CATSPER2P1||NON_CODING|NR_002318.2||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:DNase1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.6288,0.7003,0.7127,0.59,0.32,0.72,,,,,,,,,,,,,,,,
synonymous_variant,PDIA3,SILENT,NM_005313.4:p.His408His/c.1224C>T,caC/caT,LOW,COSM3754338(2),0.504593,0.63,rs1053492,,,,,,chr15,44061802,44061802,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His408His/c.1224C>T|505|PDIA3|protein_coding|CODING|NM_005313.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6155,0.6931,0.7117,0.54,0.20,0.72,,,,,,,,,,,,,,,,
missense_variant,WDR76,MISSENSE,NM_024908.3:p.Ser153Ala/c.457T>G,Tcc/Gcc,MODERATE,COSM3754339(1),0.830671,1,rs678084,0.32(T),0.0(B),0.345(N),-1.0108(T),,chr15,44120559,44120559,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser153Ala/c.457T>G|626|WDR76|protein_coding|CODING|NM_024908.3|2|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser89Ala/c.265T>G|562|WDR76|protein_coding|CODING|NM_001167941.1|2|1)","CD4:H2AZ,K562:H3K4me3,HeLa-S3:DNase1,HeLa-S3:H3K79me2,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:H3K36me3,IMR90:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me2,CD4:H3K27ac,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1",,,,0.7945,0.8963,0.8131,0.79,0.74,0.82,,0.062379(N),1.000(P),"-1.58,-1.6,0.97(D,D,T)",0.0000(T),0.082,1.564843,4.5,2.54,-0.215000,0.235000,1.393000,0.632000,0.524000,0.980000,3.2832
missense_variant,SPG11,MISSENSE,NM_025137.3:p.Phe463Ser/c.1388T>C,tTt/tCt,MODERATE,COSM147894(1),0.47484,0.4653,rs3759871,0.33(T),"0.009,0.02,0.022,0.008(B,B,B,B)",1.61(L),-0.9029(T),,chr15,44943757,44943757,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe463Ser/c.1388T>C|2330|SPG11|protein_coding|CODING|NM_001160227.1|6|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe463Ser/c.1388T>C|2443|SPG11|protein_coding|CODING|NM_025137.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000034172.2|RCV000118403.2,,0.362,0.5893,0.4513,0.48,0.53,0.46,,0.000773(D),1.000(P),"-0.99,-0.73,-0.73(T,T,T)",0.0000(T),0.418,1.234381,6.06,4.93,0.533000,1.092000,1.226000,0.991000,0.856000,0.042000,3.1014
missense_variant,PATL2,MISSENSE,NM_001145112.1:p.Met88Val/c.262A>G,Atg/Gtg,MODERATE,,0.990415,1,rs8026845,0.53(T),0.0(B),-0.895(N),-1.0194(T),,chr15,44966389,44966389,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met88Val/c.262A>G|543|PATL2|protein_coding|CODING|NM_001145112.1|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,0.999,0.99,0.97,1.00,,,1.000(P),2.3(T),0.0000(T),0.267,-2.473231,4.99,2.83,-0.124000,0.544000,0.153000,0.036000,0.005000,0.000000,5.1259
missense_variant,TRIM69,MISSENSE,NM_182985.4:p.Asp15Asn/c.43G>A,Gac/Aac,MODERATE,COSM4148785(1),0.562899,0.5813,rs2470911,0.86(T),0.0(B),-0.895(N),-0.9617(T),,chr15,45047134,45047134,G,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp15Asn/c.43G>A|500|TRIM69|protein_coding|CODING|NM_182985.4|2|1),intron_variant(MODIFIER|||c.-137-1432G>A|296|TRIM69|protein_coding|CODING|NM_001301144.1|1|1),intron_variant(MODIFIER|||c.-137-1432G>A|279|TRIM69|protein_coding|CODING|NM_001301145.1|1|1),intron_variant(MODIFIER|||c.7-1432G>A|263|TRIM69|protein_coding|CODING|NM_001301146.1|1|1),intron_variant(MODIFIER|||c.7-1432G>A|341|TRIM69|protein_coding|CODING|NM_080745.4|1|1)",HUVEC:H3K27me3,,,,0.4243,0.6484,0.7256,0.66,0.54,0.72,,0.030238(N),1.000(P),1.13(T),0.0000(T),0.003,-0.810047,5.07,2.73,-1.344000,0.416000,0.419000,0.022000,0.004000,0.000000,7.1239
missense_variant,TRIM69,MISSENSE,NM_182985.4:p.Thr161Met/c.482C>T,aCg/aTg,MODERATE,,0.717851,0.7718,rs3100139,0.22(T),0.032(B),0(N),-1.0327(T),,chr15,45047573,45047573,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr161Met/c.482C>T|500|TRIM69|protein_coding|CODING|NM_182985.4|2|1),splice_region_variant(LOW|||c.482C>T|500|TRIM69|protein_coding|CODING|NM_182985.4|2|1),intron_variant(MODIFIER|||c.-137-993C>T|296|TRIM69|protein_coding|CODING|NM_001301144.1|1|1),intron_variant(MODIFIER|||c.-137-993C>T|279|TRIM69|protein_coding|CODING|NM_001301145.1|1|1),intron_variant(MODIFIER|||c.7-993C>T|263|TRIM69|protein_coding|CODING|NM_001301146.1|1|1),intron_variant(MODIFIER|||c.7-993C>T|341|TRIM69|protein_coding|CODING|NM_080745.4|1|1)",HUVEC:H3K27me3,,,,0.6881,0.7435,0.8469,0.78,0.65,0.84,,0.728322(N),0.000(P),1.14(T),0.0000(T),0.06,0.456054,5.45,-1.94,-0.783000,-0.584000,-0.793000,0.240000,0.828000,0.478000,6.8477
missense_variant,TRIM69,MISSENSE,NM_182985.4:p.Ala190Val/c.569C>T,gCt/gTt,MODERATE,,0.136981,0.0685,rs3759880,0.38(T),"0.003,0.002(B,B)",0.095(N),-1.0113(T),,chr15,45048651,45048651,C,T,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala31Val/c.92C>T|263|TRIM69|protein_coding|CODING|NM_001301146.1|2|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala31Val/c.92C>T|341|TRIM69|protein_coding|CODING|NM_080745.4|2|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala190Val/c.569C>T|500|TRIM69|protein_coding|CODING|NM_182985.4|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||296|TRIM69|protein_coding|CODING|NM_001301144.1|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||279|TRIM69|protein_coding|CODING|NM_001301145.1|2|1),5_prime_UTR_variant(MODIFIER||2201|c.-52C>T|296|TRIM69|protein_coding|CODING|NM_001301144.1|2|1),5_prime_UTR_variant(MODIFIER||2201|c.-52C>T|279|TRIM69|protein_coding|CODING|NM_001301145.1|2|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.1391,0.0764,0.1123,0.12,0.18,0.09,,0.404170(N),0.000(P),"1.1,0.46(T,T)",0.0000(T),0.054,0.260660,5.56,0.103,-0.137000,0.110000,0.335000,0.061000,0.995000,0.999000,5.3173
synonymous_variant,SORD,SILENT,NM_003104.5:p.Ala259Ala/c.777G>A,gcG/gcA,LOW,,0.0457268,0.0466,rs55713047,,,,,,chr15,45361241,45361241,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala259Ala/c.777G>A|357|SORD|protein_coding|CODING|NM_003104.5|7|1),non_coding_exon_variant(MODIFIER|||n.1042G>A||SORD||CODING|NR_034039.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0286,0.0173,0.0099,0.04,0.07,0.02,,,,,,,,,,,,,,,,
missense_variant,DUOX2,MISSENSE,NM_014080.4:p.Ser1067Leu/c.3200C>T,tCg/tTg,MODERATE,COSM4148787(1),0.720248,0.9514,rs269868,0.03(D),0.02(B),2.125(M),-0.9408(T),,chr15,45392075,45392075,G,A,hom,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser1067Leu/c.3200C>T|1548|DUOX2|protein_coding|CODING|NM_014080.4|25|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9632,0.804,0.9304,0.70,0.27,0.92,,0.000001(D),0.000(P),,0.0000(T),0.142,3.410266,5.6,5.6,0.563000,2.653000,7.934000,0.334000,0.889000,1.000000,18.6061
synonymous_variant,DUOX2,SILENT,NM_014080.4:p.Gly487Gly/c.1461G>C,ggG/ggC,LOW,COSM4148789(1),0.861422,0.9901,rs269860,,,,,,chr15,45400358,45400358,C,G,hom,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly487Gly/c.1461G>C|1548|DUOX2|protein_coding|CODING|NM_014080.4|13|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9898,0.9308,0.9692,0.86,0.63,0.97,,,,,,,,,,,,,,,,
missense_variant,DUOX2,MISSENSE,NM_014080.4:p.Pro138Leu/c.413C>T,cCc/cTc,MODERATE,COSM4148790(1),0.759984,0.9196,rs2001616,0.06(T),0.049(B),2.035(M),-1.0640(T),,chr15,45404066,45404066,G,A,hom,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro138Leu/c.413C>T|1548|DUOX2|protein_coding|CODING|NM_014080.4|5|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.955,0.804,0.9115,0.74,0.43,0.90,,0.000352(D),0.000(P),,0.0000(T),0.06,2.721245,5.22,1.9,-0.219000,0.603000,2.409000,0.895000,0.859000,0.996000,6.7593
missense_variant,DUOXA2,MISSENSE,NM_207581.3:p.Arg100Gly/c.298C>G,Cgt/Ggt,MODERATE,,0.858427,1,rs2576090,1(T),0.0(B),-2.905(N),-0.9388(T),,chr15,45408414,45408414,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg100Gly/c.298C>G|320|DUOXA2|protein_coding|CODING|NM_207581.3|3|1),downstream_gene_variant(MODIFIER||1150||483|DUOXA1|protein_coding|CODING|NM_001276264.1||1),downstream_gene_variant(MODIFIER||1150||438|DUOXA1|protein_coding|CODING|NM_001276265.1||1),downstream_gene_variant(MODIFIER||1150||298|DUOXA1|protein_coding|CODING|NM_001276267.1||1),downstream_gene_variant(MODIFIER||1150||298|DUOXA1|protein_coding|CODING|NM_001276268.1||1),downstream_gene_variant(MODIFIER||1150||483|DUOXA1|protein_coding|CODING|NM_144565.3||1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.964,1,0.86,0.58,1.00,,0.000000(N),0.988(P),2.11(T),0.0000(T),0.119,-0.478595,5.38,5.38,-0.357000,1.293000,7.363000,0.039000,0.842000,1.000000,15.3973
missense_variant,DUOX1,MISSENSE,NM_017434.4:p.Cys1026Arg/c.3076T>C,Tgt/Cgt,MODERATE,COSM147896(2),0.302915,0.4167,rs16939752,0.37(T),"0.0,0.0(B,B)",-1.355(N),-0.9631(T),,chr15,45444133,45444133,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1026Arg/c.3076T>C|1551|DUOX1|protein_coding|CODING|NM_017434.4|25|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1026Arg/c.3076T>C|1551|DUOX1|protein_coding|CODING|NM_175940.2|24|1)","H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4121,0.1945,0.1292,0.17,0.27,0.12,,0.002148(N),0.872(P),"-1.88,-1.88(D,D)",0.0000(T),0.119,1.378582,4.17,3.25,-0.119000,0.519000,2.047000,0.973000,0.956000,0.998000,3.8893
synonymous_variant,DUOX1,SILENT,NM_017434.4:p.Thr1076Thr/c.3228A>G,acA/acG,LOW,COSM147897(2),0.576677,0.4921,rs1706804,,,,,,chr15,45444518,45444518,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1076Thr/c.3228A>G|1551|DUOX1|protein_coding|CODING|NM_017434.4|26|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1076Thr/c.3228A>G|1551|DUOX1|protein_coding|CODING|NM_175940.2|25|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7679,0.513,0.665,0.61,0.48,0.68,,,,,,,,,,,,,,,,
missense_variant,DUOX1,MISSENSE,NM_017434.4:p.Leu1178Phe/c.3532C>T,Ctc/Ttc,MODERATE,COSM147898(2),0.553315,0.4911,rs2458236,0.57(T),0.019(B),0.615(N),-0.9053(T),,chr15,45446156,45446156,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu1178Phe/c.3532C>T|1551|DUOX1|protein_coding|CODING|NM_017434.4|28|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu1178Phe/c.3532C>T|1551|DUOX1|protein_coding|CODING|NM_175940.2|27|1)",NHEK:H3K36me3,,,,0.7658,0.5029,0.661,0.59,0.43,0.68,,0.002588(N),0.999(P),"-2.77,-2.77(D,D)",0.0000(T),0.097,1.342094,4.47,3.35,-0.254000,0.354000,0.792000,0.940000,0.999000,1.000000,6.2577
missense_variant,SHF,MISSENSE,NM_001301168.1:p.Ala242Pro/c.724G>C,Gcg/Ccg,MODERATE,,0.95028,0.8244,rs1632144,1(T),"0.001,0.002,0.0,0.0(B,B,B,B)",-0.285(N),-0.9309(T),,chr15,45467540,45467540,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala242Pro/c.724G>C|441|SHF|protein_coding|CODING|NM_001301168.1|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala242Pro/c.724G>C|367|SHF|protein_coding|CODING|NM_001301169.1|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala242Pro/c.724G>C|290|SHF|protein_coding|CODING|NM_001301170.1|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala40Pro/c.118G>C|239|SHF|protein_coding|CODING|NM_001301171.1|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala177Pro/c.529G>C|423|SHF|protein_coding|CODING|NM_138356.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.9888,0.9524,0.997,0.99,0.99,1.00,,0.001576(N),1.000(P),"1.45,1.45,1.45(T,T,T)",0.0000(T),0.26,-0.176990,5.25,5.25,-0.322000,1.223000,1.982000,0.596000,0.293000,1.000000,7.558
missense_variant,SLC28A2,MISSENSE,NM_004212.3:p.Pro22Leu/c.65C>T,cCg/cTg,MODERATE,,0.302915,0.1052,rs11854484,0.31(T),0.001(B),0.895(L),-1.0395(T),,chr15,45545478,45545478,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro22Leu/c.65C>T|658|SLC28A2|protein_coding|CODING|NM_004212.3|2|1),intron_variant(MODIFIER|||n.180+586G>A||LOC101928414||NON_CODING|NR_120335.1|4|1)",,,,,0.4018,0.3775,0.6123,0.48,0.19,0.63,,0.125488(N),1.000(P),4.82(T),0.0000(T),0.124,1.399257,5.04,-0.812,0.655000,0.028000,-1.438000,0.220000,0.007000,0.000000,1.5014
missense_variant,SLC28A2,MISSENSE,NM_004212.3:p.Ser75Arg/c.225C>A,agC/agA,MODERATE,,0.313099,0.1181,rs1060896,0.57(T),0.0(B),-0.205(N),-0.9604(T),,chr15,45554267,45554267,C,A,het,"missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser75Arg/c.225C>A|658|SLC28A2|protein_coding|CODING|NM_004212.3|4|1),intron_variant(MODIFIER|||n.27-6071G>T||LOC101928414||NON_CODING|NR_120335.1|1|1)",HUVEC:H3K27me3,,,,0.408,0.3905,0.6322,0.51,0.20,0.66,,0.237861(N),1.000(P),-1.43(T),0.0000(T),0.426,0.427502,5.64,-3.67,-0.488000,-0.195000,-1.600000,0.768000,0.016000,0.000000,1.2998
synonymous_variant,GATM,SILENT,NM_001482.2:p.Leu418Leu/c.1252T>C,Tta/Cta,LOW,,0.717652,0.8988,rs1145086,,,,,,chr15,45654327,45654327,A,G,hom,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu418Leu/c.1252T>C|423|GATM|protein_coding|CODING|NM_001482.2|9|1),"HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117124.2,,0.635,0.6326,0.4076,0.53,0.82,0.39,,,,,,,,,,,,,,,,
synonymous_variant,SLC30A4,SILENT,NM_013309.4:p.Asp305Asp/c.915C>T,gaC/gaT,LOW,,0.760783,0.7034,rs2453531,,,,,,chr15,45779810,45779810,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp305Asp/c.915C>T|429|SLC30A4|protein_coding|CODING|NM_013309.4|6|1),IMR90:H3K36me3,,,,0.771,0.6095,0.7177,0.76,0.87,0.70,,,,,,,,,,,,,,,,
missense_variant,SQRDL,MISSENSE,NM_001271213.1:p.Ile264Thr/c.791T>C,aTt/aCt,MODERATE,COSM3999547(1),0.264177,0.4276,rs1044032,0.15(T),0.023(B),1.235(L),-0.9536(T),,chr15,45968435,45968435,T,C,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile264Thr/c.791T>C|450|SQRDL|protein_coding|CODING|NM_001271213.1|7|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile264Thr/c.791T>C|450|SQRDL|protein_coding|CODING|NM_021199.3|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3947,0.2046,0.2217,0.17,0.11,0.20,,0.000006(N),0.000(P),0.59(T),0.0000(T),0.216,2.930037,5.74,4.62,-0.261000,1.008000,6.252000,0.966000,0.868000,0.990000,10.9095
synonymous_variant,SEMA6D,SILENT,NM_153618.1:p.Pro92Pro/c.276C>A,ccC/ccA,LOW,,0.479832,0.6339,rs501916,,,,,,chr15,48053229,48053229,C,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro92Pro/c.276C>A|1011|SEMA6D|protein_coding|CODING|NM_001198999.1|7|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro92Pro/c.276C>A|1011|SEMA6D|protein_coding|CODING|NM_020858.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro92Pro/c.276C>A|476|SEMA6D|protein_coding|CODING|NM_024966.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro92Pro/c.276C>A|998|SEMA6D|protein_coding|CODING|NM_153616.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro92Pro/c.276C>A|1017|SEMA6D|protein_coding|CODING|NM_153617.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro92Pro/c.276C>A|1073|SEMA6D|protein_coding|CODING|NM_153618.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro92Pro/c.276C>A|597|SEMA6D|protein_coding|CODING|NM_153619.1|4|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.4049,0.4107,0.3469,0.39,0.53,0.32,,,,,,,,,,,,,,,,
synonymous_variant,SEMA6D,SILENT,NM_153618.1:p.Ala407Ala/c.1221C>T,gcC/gcT,LOW,,0.188698,0.1746,rs3743281,,,,,,chr15,48056958,48056958,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala407Ala/c.1221C>T|1011|SEMA6D|protein_coding|CODING|NM_001198999.1|15|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala407Ala/c.1221C>T|1011|SEMA6D|protein_coding|CODING|NM_020858.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala407Ala/c.1221C>T|476|SEMA6D|protein_coding|CODING|NM_024966.2|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala407Ala/c.1221C>T|998|SEMA6D|protein_coding|CODING|NM_153616.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala407Ala/c.1221C>T|1017|SEMA6D|protein_coding|CODING|NM_153617.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala407Ala/c.1221C>T|1073|SEMA6D|protein_coding|CODING|NM_153618.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala407Ala/c.1221C>T|597|SEMA6D|protein_coding|CODING|NM_153619.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3",,,,0.3006,0.2075,0.2724,0.19,0.07,0.25,,,,,,,,,,,,,,,,
missense_variant,SEMA6D,MISSENSE,NM_153618.1:p.Ser478Asn/c.1433G>A,aGt/aAt,MODERATE,,0.465655,0.6032,rs532598,0.4(T),"0.0,0.001,0.0,0.001,0.0(B,B,B,B,B)",0.695(N),-0.9801(T),,chr15,48058071,48058071,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser478Asn/c.1433G>A|1011|SEMA6D|protein_coding|CODING|NM_001198999.1|17|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser478Asn/c.1433G>A|1011|SEMA6D|protein_coding|CODING|NM_020858.1|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser478Asn/c.1433G>A|998|SEMA6D|protein_coding|CODING|NM_153616.1|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser478Asn/c.1433G>A|1017|SEMA6D|protein_coding|CODING|NM_153617.1|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser478Asn/c.1433G>A|1073|SEMA6D|protein_coding|CODING|NM_153618.1|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser478Asn/c.1433G>A|597|SEMA6D|protein_coding|CODING|NM_153619.1|14|1),downstream_gene_variant(MODIFIER||394||476|SEMA6D|protein_coding|CODING|NM_024966.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.3589,0.3617,0.3509,0.42,0.59,0.33,,0.125674(N),0.000(P),"2.27,2.28,2.28,2.26,2.26,2.27,2.27,2.28,2.22(T,T,T,T,T,T,T,T,T)",0.0000(T),0.022,0.571452,5.68,-1.93,-1.154000,-0.278000,0.315000,0.895000,0.756000,0.967000,7.2106
synonymous_variant,SEMA6D,SILENT,NM_153618.1:p.Pro772Pro/c.2316T>C,ccT/ccC,LOW,,0.795727,0.8442,rs568215,,,,,,chr15,48063076,48063076,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro710Pro/c.2130T>C|1011|SEMA6D|protein_coding|CODING|NM_001198999.1|20|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro710Pro/c.2130T>C|1011|SEMA6D|protein_coding|CODING|NM_020858.1|17|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro697Pro/c.2091T>C|998|SEMA6D|protein_coding|CODING|NM_153616.1|17|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro716Pro/c.2148T>C|1017|SEMA6D|protein_coding|CODING|NM_153617.1|18|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro772Pro/c.2316T>C|1073|SEMA6D|protein_coding|CODING|NM_153618.1|19|1),3_prime_UTR_variant(MODIFIER||332|c.*332T>C|597|SEMA6D|protein_coding|CODING|NM_153619.1|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3",,,,0.7618,0.6527,0.6352,0.71,0.92,0.61,,,,,,,,,,,,,,,,
missense_variant,MYEF2,MISSENSE,NM_016132.4:p.Gln426Arg/c.1277A>G,cAa/cGa,MODERATE,,1,1,rs2470103,1(T),"0.0,0.0(B,B)",-1.7(N),-0.9362(T),,chr15,48443699,48443699,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln426Arg/c.1277A>G|576|MYEF2|protein_coding|CODING|NM_001301210.1|13|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln426Arg/c.1277A>G|600|MYEF2|protein_coding|CODING|NM_016132.4|13|1),downstream_gene_variant(MODIFIER||805|||MYEF2||CODING|NR_125408.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),1.000(P),"2.09,2.36(T,T)",0.0000(T),0.317,0.855014,5.81,5.81,-0.119000,1.485000,4.120000,0.996000,1.000000,1.000000,15.156
missense_variant,MYEF2,MISSENSE,NM_016132.4:p.Ala91Thr/c.271G>A,Gct/Act,MODERATE,,0.993011,1,rs8023906,1(T),"0.0,0.0(B,B)",-1.39(N),-0.9830(T),,chr15,48460927,48460927,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala91Thr/c.271G>A|576|MYEF2|protein_coding|CODING|NM_001301210.1|2|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala91Thr/c.271G>A|600|MYEF2|protein_coding|CODING|NM_016132.4|2|1),non_coding_exon_variant(MODIFIER|||n.395G>A||MYEF2||CODING|NR_125408.1|2|1)",HUVEC:H3K36me3,,,,1,0.9986,1,0.99,0.98,1.00,,0.014973(N),1.000(P),"2.66,2.06(T,T)",0.0000(T),0.066,-1.207618,6.08,2.28,-0.332000,0.551000,-0.009000,0.945000,0.998000,0.982000,1.7472
synonymous_variant,SLC12A1,SILENT,NM_000338.2:p.Tyr538Tyr/c.1614T>C,taT/taC,LOW,COSM3999551(1),0.495607,0.5883,rs6493311,,,,,,chr15,48539587,48539587,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr538Tyr/c.1614T>C|1099|SLC12A1|protein_coding|CODING|NM_000338.2|13|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr538Tyr/c.1614T>C|1099|SLC12A1|protein_coding|CODING|NM_001184832.1|13|1)",HMEC:H3K27me3,,,,0.3742,0.2968,0.2097,0.37,0.71,0.19,,,,,,,,,,,,,,,,
missense_variant,SLC12A1,MISSENSE,NM_000338.2:p.Val958Ala/c.2873T>C,gTa/gCa,MODERATE,,0.997804,1,rs1552311,1(T),"0.0,0.0(B,B)",-1.82(N),-0.9294(T),,chr15,48580713,48580713,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val958Ala/c.2873T>C|1099|SLC12A1|protein_coding|CODING|NM_000338.2|23|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val958Ala/c.2873T>C|1099|SLC12A1|protein_coding|CODING|NM_001184832.1|23|1),splice_region_variant(LOW|||c.2873T>C|1099|SLC12A1|protein_coding|CODING|NM_000338.2|23|1),splice_region_variant(LOW|||c.2873T>C|1099|SLC12A1|protein_coding|CODING|NM_001184832.1|23|1)",,,,,1,0.9986,1,1.00,0.99,1.00,,0.040632(N),0.000(P),"-2.81,-2.81(D,D)",0.0000(T),0.01,-1.669205,5.41,4.5,-0.716000,0.693000,1.080000,0.478000,0.690000,1.000000,4.1906
missense_variant,FBN1,MISSENSE,NM_000138.4:p.Cys472Tyr/c.1415G>A,tGc/tAc,MODERATE,,1,1,rs4775765,1(T),0.0(B),-4.395(N),-0.8791(T),,chr15,48807637,48807637,C,T,hom,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys472Tyr/c.1415G>A|2871|FBN1|protein_coding|CODING|NM_000138.4|12|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000000(N),0.000(P),-2.08(D),0.0000(T),0.383,0.761024,5.93,5.93,-0.254000,1.083000,5.964000,0.957000,1.000000,1.000000,11.4442
missense_variant,CEP152,MISSENSE,NM_001194998.1:p.Leu914Val/c.2740C>G,Ctt/Gtt,MODERATE,,0.0505192,0.0724,rs111172997,0.5(T),"0.003,0.007,0.004(B,B,B)",1.245(L),-1.0718(T),,chr15,49048705,49048705,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu914Val/c.2740C>G|1710|CEP152|protein_coding|CODING|NM_001194998.1|20|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu914Val/c.2740C>G|1654|CEP152|protein_coding|CODING|NM_014985.3|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0593,0.0476,0.0815,0.06,0.01,0.07,,0.318785(N),1.000(P),"0.55,0.58,0.57(T,T,T)",0.0042(T),0.02,0.748128,5.68,0.317,-0.229000,-0.108000,0.785000,0.974000,0.894000,0.606000,1.1175
missense_variant,SECISBP2L,MISSENSE,NM_001193489.1:p.Val710Leu/c.2128G>T,Gta/Tta,MODERATE,,0.076877,0.003,rs11854184,0.09(T),"0.014,0.008(B,B)",0.69(N),-1.0836(T),,chr15,49293194,49293194,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val710Leu/c.2128G>T|1101|SECISBP2L|protein_coding|CODING|NM_001193489.1|15|1),missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val665Leu/c.1993G>T|1056|SECISBP2L|protein_coding|CODING|NM_014701.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0511,0.1081,0.2018,0.17,0.06,0.22,,0.013316(N),0.138(P),0.45(T),0.0001(T),0.144,2.651974,5.09,4.17,-0.251000,1.282000,3.043000,0.900000,0.956000,1.000000,8.8473
synonymous_variant,SECISBP2L,SILENT,NM_001193489.1:p.Leu179Leu/c.537T>G,ctT/ctG,LOW,COSM3754347(1),0.42512,0.3512,rs11638215,,,,,,chr15,49325289,49325289,A,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu179Leu/c.537T>G|1101|SECISBP2L|protein_coding|CODING|NM_001193489.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu179Leu/c.537T>G|1056|SECISBP2L|protein_coding|CODING|NM_014701.3|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5573,0.3991,0.6461,0.52,0.30,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ATP8B4,SILENT,NM_024837.3:p.Gly1129Gly/c.3387C>A,ggC/ggA,LOW,,1,1,rs4774549,,,,,,chr15,50152583,50152583,G,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly1129Gly/c.3387C>A|1192|ATP8B4|protein_coding|CODING|NM_024837.3|28|1),non_coding_exon_variant(MODIFIER|||n.3428C>A||ATP8B4||CODING|NR_073596.1|28|1),non_coding_exon_variant(MODIFIER|||n.3381C>A||ATP8B4||CODING|NR_073597.1|27|1),non_coding_exon_variant(MODIFIER|||n.3636C>A||ATP8B4||CODING|NR_073598.1|29|1)","IMR90:DNase1,NH-A:DNase1,IMR90:H3K4me1,IMR90:H3K27ac",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,ATP8B4,MISSENSE,NM_024837.3:p.His452Asn/c.1354C>A,Cat/Aat,MODERATE,COSM3754348(1),0.639776,0.4087,rs2452524,0.36(T),0.0(B),-1.195(N),-1.0002(T),,chr15,50226313,50226313,G,T,het,"missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His452Asn/c.1354C>A|1192|ATP8B4|protein_coding|CODING|NM_024837.3|15|1),non_coding_exon_variant(MODIFIER|||n.1584C>A||ATP8B4||CODING|NR_073596.1|16|1),non_coding_exon_variant(MODIFIER|||n.1496C>A||ATP8B4||CODING|NR_073597.1|15|1),non_coding_exon_variant(MODIFIER|||n.1603C>A||ATP8B4||CODING|NR_073598.1|16|1)",HUVEC:H3K27me3,,,,0.5378,0.5951,0.6918,0.74,0.83,0.70,,0.949405(N),1.000(P),0.03(T),0.0000(T),0.039,-0.331053,5.81,-2.68,-1.418000,-1.130000,1.045000,0.148000,0.002000,0.002000,6.6734
missense_variant,SLC27A2,MISSENSE,NM_003645.3:p.Lys48Gln/c.142A>C,Aag/Cag,MODERATE,COSM3754349(3),0.613019,0.8095,rs1648348,0.43(T),"0.001,0.002(B,B)",-0.08(N),-0.9240(T),,chr15,50474766,50474766,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys48Gln/c.142A>C|567|SLC27A2|protein_coding|CODING|NM_001159629.1|1|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys48Gln/c.142A>C|620|SLC27A2|protein_coding|CODING|NM_003645.3|1|1)","CD4:H2AZ,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,GM12878:ZEB1,HMEC:H3K27me3,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:Ap2gamma,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.683,0.6326,0.6501,0.58,0.43,0.66,,0.071516(N),1.000(P),"0.29,0.18(T,T)",0.0000(T),0.028,-0.561990,4.94,0.708,-0.249000,-0.049000,0.034000,0.008000,0.001000,0.000000,13.7473
synonymous_variant,USP8,SILENT,NM_001128610.2:p.Gln432Gln/c.1296G>A,caG/caA,LOW,,0.992212,1,rs3131561,,,,,,chr15,50773755,50773755,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln432Gln/c.1296G>A|1118|USP8|protein_coding|CODING|NM_001128610.2|11|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln355Gln/c.1065G>A|1012|USP8|protein_coding|CODING|NM_001283049.1|9|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln432Gln/c.1296G>A|1118|USP8|protein_coding|CODING|NM_005154.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,TRPM7,MISSENSE,NM_017672.5:p.Lys1019Asn/c.3057G>C,aaG/aaC,MODERATE,,,,,0(D),0.575(P),2.4(M),0.8841(D),,chr15,50891425,50891425,C,G,het,"missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys1019Asn/c.3057G>C|1864|TRPM7|protein_coding|CODING|NM_001301212.1|22|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys1019Asn/c.3057G>C|1865|TRPM7|protein_coding|CODING|NM_017672.5|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),-4.87(D),0.9203(D),0.272,2.732412,5.61,2.7,-0.157000,0.305000,0.031000,0.994000,1.000000,0.856000,8.2664
missense_variant,AP4E1,MISSENSE,NM_007347.4:p.Cys163Arg/c.487T>C,Tgc/Cgc,MODERATE,COSM4128280(1),0.440895,0.625,rs2306331,1(T),0.0(B),-1.65(N),-0.9608(T),,chr15,51217361,51217361,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys88Arg/c.262T>C|1062|AP4E1|protein_coding|CODING|NM_001252127.1|5|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys163Arg/c.487T>C|1137|AP4E1|protein_coding|CODING|NM_007347.4|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116365.2,,0.3456,0.389,0.4662,0.44,0.40,0.46,,0.000577(N),0.921(P),2.75(T),0.0000(T),0.113,0.623751,5.53,5.53,-0.368000,1.348000,3.863000,0.689000,0.998000,1.000000,8.7491
synonymous_variant,AP4E1,SILENT,NM_007347.4:p.Gln1129Gln/c.3387G>A,caG/caA,LOW,,0.204073,0.4653,rs3825798,,,,,,chr15,51294832,51294832,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln1054Gln/c.3162G>A|1062|AP4E1|protein_coding|CODING|NM_001252127.1|21|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln1129Gln/c.3387G>A|1137|AP4E1|protein_coding|CODING|NM_007347.4|21|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116364.2,,0.1084,0.1974,0.2197,0.19,0.11,0.23,,,,,,,,,,,,,,,,
synonymous_variant,CYP19A1,SILENT,NM_000103.3:p.Val80Val/c.240A>G,gtA/gtG,LOW,COSM147905(2),0.325879,0.4385,rs386606548,,,,,,chr15,51529112,51529112,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val80Val/c.240A>G|503|CYP19A1|protein_coding|CODING|NM_000103.3|3|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val80Val/c.240A>G|503|CYP19A1|protein_coding|CODING|NM_031226.2|4|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2914,0.3156,0.4692,0.40,0.21,0.50,,,,,,,,,,,,,,,,
synonymous_variant,MYO5C,SILENT,NM_018728.3:p.Leu898Leu/c.2692T>C,Ttg/Ctg,LOW,,0.592851,0.3085,rs11635028,,,,,,chr15,52531941,52531941,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu898Leu/c.2692T>C|1742|MYO5C|protein_coding|CODING|NM_018728.3|21|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.5685,0.7205,0.9354,0.82,0.56,0.94,,,,,,,,,,,,,,,,
synonymous_variant,MYO5C,SILENT,NM_018728.3:p.Arg819Arg/c.2457C>T,cgC/cgT,LOW,COSM1373488(1),0.382987,0.0417,rs3751631,,,,,,chr15,52534344,52534344,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg819Arg/c.2457C>T|1742|MYO5C|protein_coding|CODING|NM_018728.3|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.4489,0.6167,0.8171,0.64,0.28,0.81,,,,,,,,,,,,,,,,
synonymous_variant,MYO5C,SILENT,NM_018728.3:p.Arg621Arg/c.1863G>A,cgG/cgA,LOW,,0.863818,0.8681,rs10163109,,,,,,chr15,52539673,52539673,C,T,hom,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg621Arg/c.1863G>A|1742|MYO5C|protein_coding|CODING|NM_018728.3|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HMEC:DNase1",,,,0.954,0.8703,0.9901,0.91,0.75,0.99,,,,,,,,,,,,,,,,
synonymous_variant,MYO5C,SILENT,NM_018728.3:p.Asn335Asn/c.1005T>C,aaT/aaC,LOW,,0.972444,1,rs4776032,0.09(T),0.001(B),,-0.8448(T),,chr15,52556429,52556429,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn335Asn/c.1005T>C|1742|MYO5C|protein_coding|CODING|NM_018728.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9957,1,0.97,0.91,1.00,,,0.000(P),,0.0000(T),.,-0.054740,5.24,-9.8,-1.557000,-2.705000,-1.099000,0.590000,0.190000,0.001000,23.9724
missense_variant,MYO5A,MISSENSE,NM_000259.3:p.Arg1246Cys/c.3736C>T,Cgt/Tgt,MODERATE,,0.148562,0.1716,rs1058219,0.01(D),"0.276,0.648(B,P)",0(N),-1.0128(T),,chr15,52643564,52643564,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1246Cys/c.3736C>T|1855|MYO5A|protein_coding|CODING|NM_000259.3|28|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1246Cys/c.3736C>T|1828|MYO5A|protein_coding|CODING|NM_001142495.1|28|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1564,0.1499,0.1819,0.15,0.10,0.17,,0.005954(N),0.000(P),"3.53,3.53,2.15,3.53,3.53,3.53(T,T,T,T,T,T)",0.0000(T),0.29,3.708960,5.38,2.26,-0.302000,0.734000,2.503000,0.972000,0.975000,1.000000,8.5865
synonymous_variant,MYO5A,SILENT,NM_000259.3:p.Ile842Ile/c.2526C>T,atC/atT,LOW,,0.844649,0.9633,rs2414145,,,,,,chr15,52667552,52667552,G,A,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile842Ile/c.2526C>T|1855|MYO5A|protein_coding|CODING|NM_000259.3|20|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile842Ile/c.2526C>T|1828|MYO5A|protein_coding|CODING|NM_001142495.1|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.911,0.9697,0.996,0.88,0.62,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MYO5A,SILENT,NM_000259.3:p.Thr397Thr/c.1191A>G,acA/acG,LOW,,0.961661,1,rs2924130,,,,,,chr15,52689526,52689526,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr397Thr/c.1191A>G|1855|MYO5A|protein_coding|CODING|NM_000259.3|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr397Thr/c.1191A>G|1828|MYO5A|protein_coding|CODING|NM_001142495.1|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,0.999,0.96,0.89,1.00,,,,,,,,,,,,,,,,
missense_variant,MYO5A,MISSENSE,NM_000259.3:p.Glu362Asp/c.1086A>C,gaA/gaC,MODERATE,COSM4128296(1),0.886781,0.9802,rs1724577,0.81(T),"0.002,0.001(B,B)",0.65(N),-0.9327(T),,chr15,52689631,52689631,T,G,hom,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu362Asp/c.1086A>C|1855|MYO5A|protein_coding|CODING|NM_000259.3|10|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu362Asp/c.1086A>C|1828|MYO5A|protein_coding|CODING|NM_001142495.1|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9131,0.9769,0.996,0.91,0.73,1.00,,0.000020(N),1.000(P),"-2.32,-2.32,-2.32,-2.32,-2.32(D,D,D,D,D)",0.0000(T),0.077,0.244194,5.4,-4.65,-0.754000,-1.087000,-0.114000,0.414000,0.838000,0.675000,1.9649
missense_variant,FAM214A,MISSENSE,NM_001286495.1:p.Thr617Ala/c.1849A>G,Act/Gct,MODERATE,COSM3932116(1),0.430711,0.8482,rs61731670,0.29(T),"0.01,0.004(B,B)",0(N),-1.0283(T),,chr15,52901283,52901283,T,C,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr617Ala/c.1849A>G|1083|FAM214A|protein_coding|CODING|NM_001286495.1|5|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr610Ala/c.1828A>G|1076|FAM214A|protein_coding|CODING|NM_019600.3|6|1),non_coding_exon_variant(MODIFIER|||n.2134A>G||FAM214A||CODING|NR_104457.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.2968,0.167,0.22,0.36,0.15,,0.000136(N),1.000(P),"1.53,1.53(T,T)",0.0000(T),0.096,-0.690316,5.92,2.07,0.533000,0.452000,1.242000,0.040000,0.042000,0.807000,5.2861
synonymous_variant,FAM214A,SILENT,NM_001286495.1:p.Ser616Ser/c.1848A>G,tcA/tcG,LOW,COSM3932117(1),0.49361,0.8869,rs58018557,,,,,,chr15,52901284,52901284,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser616Ser/c.1848A>G|1083|FAM214A|protein_coding|CODING|NM_001286495.1|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser609Ser/c.1827A>G|1076|FAM214A|protein_coding|CODING|NM_019600.3|6|1),non_coding_exon_variant(MODIFIER|||n.2133A>G||FAM214A||CODING|NR_104457.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3712,0.317,0.17,0.27,0.52,0.16,,,,,,,,,,,,,,,,
missense_variant,FAM214A,MISSENSE,NM_001286495.1:p.Val567Ile/c.1699G>A,Gta/Ata,MODERATE,,0.4373,0.1121,rs12915981,0.21(T),"0.0,0.0(B,B)",0(N),-1.0262(T),,chr15,52901433,52901433,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val567Ile/c.1699G>A|1083|FAM214A|protein_coding|CODING|NM_001286495.1|5|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val560Ile/c.1678G>A|1076|FAM214A|protein_coding|CODING|NM_019600.3|6|1),non_coding_exon_variant(MODIFIER|||n.1984G>A||FAM214A||CODING|NR_104457.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5532,0.611,0.7445,0.62,0.36,0.73,,0.259366(N),1.000(P),"1.59,1.59(T,T)",0.0000(T),0.107,-3.098377,6.17,-0.639,-2.269000,-1.062000,0.442000,0.015000,0.000000,0.606000,6.9611
synonymous_variant,FAM214A,SILENT,NM_001286495.1:p.Gln498Gln/c.1494A>G,caA/caG,LOW,COSM147915(1),0.416933,0.1081,rs3751614,,,,,,chr15,52901638,52901638,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln498Gln/c.1494A>G|1083|FAM214A|protein_coding|CODING|NM_001286495.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln491Gln/c.1473A>G|1076|FAM214A|protein_coding|CODING|NM_019600.3|6|1),non_coding_exon_variant(MODIFIER|||n.1779A>G||FAM214A||CODING|NR_104457.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5532,0.6095,0.7445,0.60,0.33,0.73,,,,,,,,,,,,,,,,
synonymous_variant,FAM214A,SILENT,NM_001286495.1:p.Gln406Gln/c.1218A>G,caA/caG,LOW,,0.0766773,0.2073,rs3751613,,,,,,chr15,52901914,52901914,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln406Gln/c.1218A>G|1083|FAM214A|protein_coding|CODING|NM_001286495.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln399Gln/c.1197A>G|1076|FAM214A|protein_coding|CODING|NM_019600.3|6|1),non_coding_exon_variant(MODIFIER|||n.1503A>G||FAM214A||CODING|NR_104457.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.036,0.0328,0.04,0.04,0.03,,,,,,,,,,,,,,,,
synonymous_variant,FAM214A,SILENT,NM_001286495.1:p.Ala385Ala/c.1155C>T,gcC/gcT,LOW,COSM147916(1),0.417133,0.1081,rs2414166,,,,,,chr15,52901977,52901977,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala385Ala/c.1155C>T|1083|FAM214A|protein_coding|CODING|NM_001286495.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala378Ala/c.1134C>T|1076|FAM214A|protein_coding|CODING|NM_019600.3|6|1),non_coding_exon_variant(MODIFIER|||n.1440C>T||FAM214A||CODING|NR_104457.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5532,0.6095,0.7445,0.60,0.31,0.73,,,,,,,,,,,,,,,,
synonymous_variant,ONECUT1,SILENT,NM_004498.2:p.Pro94Pro/c.282C>G,ccC/ccG,LOW,,0.0439297,0.005,rs61735385,,,,,,chr15,53081800,53081800,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro94Pro/c.282C>G|465|ONECUT1|protein_coding|CODING|NM_004498.2|1|1),"H1ESC:H3K36me3,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HepG2:H3K27me3",,,,0.091,0.0274,0.0875,0.08,0.03,0.10,,,,,,,,,,,,,,,,
missense_variant,WDR72,MISSENSE,NM_182758.3:p.Leu819Phe/c.2455C>T,Ctc/Ttc,MODERATE,COSM3754356(2),0.266973,0.4851,rs17730281,0(D),0.96(D),2.505(M),-0.8747(T),,chr15,53907948,53907948,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu819Phe/c.2455C>T|1102|WDR72|protein_coding|CODING|NM_182758.3|15|1),non_coding_exon_variant(MODIFIER|||n.2695C>T||WDR72||CODING|NR_102334.1|15|1)",,Renal_function_related_traits_BUN,,,0.2209,0.3804,0.2018,0.20,0.16,0.22,,0.000004(D),0.002(P),"-0.41,-0.41(T,T)",0.0000(T),0.534,3.669478,5.72,5.72,0.655000,2.703000,2.006000,0.973000,1.000000,0.991000,10.4234
synonymous_variant,WDR72,SILENT,NM_182758.3:p.Tyr469Tyr/c.1407T>C,taT/taC,LOW,,0.639776,0.8016,rs6416452,,,,,,chr15,53994493,53994493,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr469Tyr/c.1407T>C|1102|WDR72|protein_coding|CODING|NM_182758.3|12|1),non_coding_exon_variant(MODIFIER|||n.1647T>C||WDR72||CODING|NR_102334.1|12|1)",,,,,0.5112,0.6628,0.505,0.56,0.69,0.50,,,,,,,,,,,,,,,,
missense_variant,WDR72,MISSENSE,NM_182758.3:p.Met100Val/c.298A>G,Atg/Gtg,MODERATE,,0.959465,1,rs690346,0.88(T),0.0(B),-1.04(N),-0.9738(T),,chr15,54008845,54008845,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met100Val/c.298A>G|1102|WDR72|protein_coding|CODING|NM_182758.3|4|1),non_coding_exon_variant(MODIFIER|||n.538A>G||WDR72||CODING|NR_102334.1|4|1)",,,,,1,0.9798,1,0.96,0.88,1.00,,0.005971(N),1.000(P),"1.26,1.26(T,T)",0.0000(T),0.074,0.246235,5.49,2.26,-0.227000,0.303000,0.915000,0.942000,0.997000,1.000000,8.1311
missense_variant,UNC13C,MISSENSE,NM_001080534.1:p.Gly609Ser/c.1825G>A,Ggt/Agt,MODERATE,,0.983227,1,rs12437941,0.69(T),0.0(B),0(N),-0.9674(T),,chr15,54306925,54306925,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly609Ser/c.1825G>A|2214|UNC13C|protein_coding|CODING|NM_001080534.1|1|1),,,,,1,0.9928,1,0.98,0.95,1.00,,,1.000(P),"-1.05,-1.05,-1.05(T,T,T)",0.0000(T),0.042,-3.048931,5.16,0.513,-0.269000,-0.080000,1.089000,0.063000,0.000000,0.004000,11.0287
missense_variant,UNC13C,MISSENSE,NM_001080534.1:p.Ser942Leu/c.2825C>T,tCa/tTa,MODERATE,COSM3754359(1),0.0678914,0.1607,rs17731958,0.22(T),0.0(B),0.345(N),-1.0835(T),,chr15,54307925,54307925,C,T,het,missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser942Leu/c.2825C>T|2214|UNC13C|protein_coding|CODING|NM_001080534.1|1|1),,,,,0.047,0.134,0.0378,0.03,0.01,0.04,,,1.000(P),"-1.19,-1.2,-1.19(T,T,T)",0.0008(T),0.06,0.444147,5.47,2.56,0.650000,0.684000,0.071000,0.616000,0.013000,0.000000,9.9736
synonymous_variant,UNC13C,SILENT,NM_001080534.1:p.Gln1954Gln/c.5862A>G,caA/caG,LOW,,0.363818,0.5258,rs386621502,,,,,,chr15,54841874,54841874,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln1954Gln/c.5862A>G|2214|UNC13C|protein_coding|CODING|NM_001080534.1|26|1),,,,,0.5368,0.2853,0.3887,0.32,0.18,0.38,,,,,,,,,,,,,,,,
synonymous_variant,UNC13C,SILENT,NM_001080534.1:p.Cys1975Cys/c.5925C>T,tgC/tgT,LOW,,0.409345,0.5427,rs11639005,,,,,,chr15,54847677,54847677,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1975Cys/c.5925C>T|2214|UNC13C|protein_coding|CODING|NM_001080534.1|27|1),,,,,0.5859,0.464,0.4423,0.35,0.17,0.43,,,,,,,,,,,,,,,,
synonymous_variant,UNC13C,SILENT,NM_001080534.1:p.Arg2127Arg/c.6381A>G,cgA/cgG,LOW,COSM3754366(2),0.547125,0.6657,rs1520411,,,,,,chr15,54919047,54919047,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg2127Arg/c.6381A>G|2214|UNC13C|protein_coding|CODING|NM_001080534.1|31|1),"GM12878:H3K36me3,GM06990:H3K36me3",,,,0.6299,0.5533,0.664,0.57,0.37,0.65,,,,,,,,,,,,,,,,
missense_variant,PIGB,MISSENSE,NM_004855.4:p.Trp299Leu/c.896G>T,tGg/tTg,MODERATE,COSM3754368(1),0.601238,0.7639,rs678892,0.51(T),0.0(B),-2.99(N),-0.9367(T),,chr15,55632859,55632859,G,T,het,missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp299Leu/c.896G>T|554|PIGB|protein_coding|CODING|NM_004855.4|8|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4448,0.4063,0.3479,0.47,0.77,0.33,,0.005524(N),0.000(P),"0.17,0.17(T,T)",0.0000(T),0.074,1.417882,5.94,4.82,-0.363000,0.510000,3.056000,0.979000,0.284000,1.000000,8.2258
synonymous_variant,CCPG1,SILENT,NM_001204450.1:p.Leu314Leu/c.940T>C,Ttg/Ctg,LOW,COSM147921(3),0.455471,0.256,rs501231,,,,,,chr15,55653031,55653031,A,G,het,"splice_region_variant(LOW|||c.934T>C|424|CCPG1|protein_coding|CODING|NM_001204451.1|8|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu314Leu/c.940T>C|757|CCPG1|protein_coding|CODING|NM_004748.4|8|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu314Leu/c.940T>C|757|CCPG1|protein_coding|CODING|NM_020739.3|8|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu314Leu/c.940T>C|807|CCPG1|protein_coding|CODING|NM_001204450.1|8|1),intron_variant(MODIFIER|||c.933+7T>C|424|CCPG1|protein_coding|CODING|NM_001204451.1|8|1),non_coding_exon_variant(MODIFIER|||n.2357T>C||DYX1C1-CCPG1||NON_CODING|NR_037923.1|15|1)","HMEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.3947,0.3329,0.5209,0.56,0.67,0.51,,,,,,,,,,,,,,,,
missense_variant,DYX1C1,MISSENSE,NM_130810.3:p.Glu191Gly/c.572A>G,gAa/gGa,MODERATE,,0.528355,0.746,rs600753,0.12(T),"0.066,0.02,0.016(B,B,B)",0.345(N),-0.9465(T),,chr15,55759193,55759193,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu191Gly/c.572A>G|376|DYX1C1|protein_coding|CODING|NM_001033559.2|5|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu191Gly/c.572A>G|381|DYX1C1|protein_coding|CODING|NM_001033560.1|5|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu191Gly/c.572A>G|420|DYX1C1|protein_coding|CODING|NM_130810.3|5|1),non_coding_exon_variant(MODIFIER|||n.827A>G||DYX1C1-CCPG1||NON_CODING|NR_037923.1|4|1)",GM12878:H3K36me3,,,,0.5654,0.6715,0.501,0.45,0.31,0.52,,0.893192(N),0.807(P),"2.58,2.58,0.78,3.25,0.78(T,T,T,T,T)",0.0000(T),0.331,1.527805,2.47,2.47,0.460000,1.368000,2.440000,0.787000,0.817000,0.896000,6.8751
synonymous_variant,PRTG,SILENT,NM_173814.4:p.Asn445Asn/c.1335T>C,aaT/aaC,LOW,COSM3754369(1),0.241613,0.4038,rs11854213,,,,,,chr15,55970041,55970041,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn445Asn/c.1335T>C|1150|PRTG|protein_coding|CODING|NM_173814.4|8|1),HepG2:H3K36me3,,,,0.2321,0.1225,0.0964,0.15,0.28,0.10,,,,,,,,,,,,,,,,
missense_variant,PRTG,MISSENSE,NM_173814.4:p.Thr236Ala/c.706A>G,Aca/Gca,MODERATE,COSM3754370(2),0.221845,0.3214,rs16976466,0.62(T),0.001(B),1.03(L),-1.0360(T),,chr15,55972797,55972797,T,C,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr236Ala/c.706A>G|1150|PRTG|protein_coding|CODING|NM_173814.4|5|1),,,,,0.229,0.1009,0.0974,0.15,0.28,0.10,,0.014605(N),1.000(P),-0.21(T),0.0000(T),0.01,1.379977,5.42,0.203,0.377000,0.014000,0.139000,0.750000,0.943000,0.014000,6.225
missense_variant,NEDD4,MISSENSE,NM_001284338.1:p.Asn698Ser/c.2093A>G,aAc/aGc,MODERATE,COSM3999567(2),0.67472,0.5972,rs2303579,1(T),"0.002,0.001,0.002,0.001(B,B,B,B)",-0.255(N),-1.0250(T),,chr15,56152729,56152729,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn698Ser/c.2093A>G|1319|NEDD4|protein_coding|CODING|NM_001284338.1|7|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn682Ser/c.2045A>G|1303|NEDD4|protein_coding|CODING|NM_001284339.1|7|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn681Ser/c.2042A>G|1302|NEDD4|protein_coding|CODING|NM_001284340.1|6|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn279Ser/c.836A>G|900|NEDD4|protein_coding|CODING|NM_006154.3|11|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn626Ser/c.1877A>G|1247|NEDD4|protein_coding|CODING|NM_198400.3|4|1),non_coding_exon_variant(MODIFIER|||n.2280A>G||NEDD4||CODING|NR_104302.1|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7607,0.6398,0.7624,0.73,0.61,0.80,,0.984988(N),1.000(P),"2.16,2.26,2.2,2.16(T,T,T,T)",0.0000(T),0.048,-0.280867,5.8,-6.96,-1.333000,-2.027000,-0.111000,0.627000,0.001000,0.877000,6.9069
missense_variant,NEDD4,MISSENSE,NM_001284338.1:p.Arg679Gln/c.2036G>A,cGa/cAa,MODERATE,COSM3999569(2),0.673922,0.5962,rs2303580,,,1.04(L),-0.9211(T),,chr15,56152872,56152872,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg679Gln/c.2036G>A|1319|NEDD4|protein_coding|CODING|NM_001284338.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg663Gln/c.1988G>A|1303|NEDD4|protein_coding|CODING|NM_001284339.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg662Gln/c.1985G>A|1302|NEDD4|protein_coding|CODING|NM_001284340.1|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg260Gln/c.779G>A|900|NEDD4|protein_coding|CODING|NM_006154.3|10|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg607Gln/c.1820G>A|1247|NEDD4|protein_coding|CODING|NM_198400.3|3|1),non_coding_exon_variant(MODIFIER|||n.2223G>A||NEDD4||CODING|NR_104302.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7607,0.6383,0.7604,0.73,0.61,0.80,,,0.000(P),,0.0000(T),.,2.806629,5.66,2.75,0.585000,0.320000,1.868000,0.909000,0.407000,0.884000,10.2445
missense_variant,NEDD4,MISSENSE,NM_001284338.1:p.Asn407His/c.1219A>C,Aat/Cat,MODERATE,,0.197883,0.3591,rs62043855,0(D),,1.78(L),-0.9646(T),,chr15,56207811,56207811,T,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn407His/c.1219A>C|1319|NEDD4|protein_coding|CODING|NM_001284338.1|1|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn407His/c.1219A>C|1303|NEDD4|protein_coding|CODING|NM_001284339.1|1|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn407His/c.1219A>C|1302|NEDD4|protein_coding|CODING|NM_001284340.1|1|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn407His/c.1219A>C|1247|NEDD4|protein_coding|CODING|NM_198400.3|1|1),intron_variant(MODIFIER|||c.291+9033A>C|900|NEDD4|protein_coding|CODING|NM_006154.3|5|1),non_coding_exon_variant(MODIFIER|||n.1519A>C||NEDD4||CODING|NR_104302.1|1|1)","NHEK:H3K4me3,HSMM:H3K27ac,HSMM:H3K4me2,HMEC:H3K36me3,IMR90:H3K4me2,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,NHEK:H3K36me3,NHEK:H3K4me2,HSMM:H3K4me3,IMR90:H3K4me3",,,,0.1738,0.1455,0.1541,0.13,0.15,0.12,,,0.075(P),1.74(T),0.0000(T),.,2.547116,5.46,0.326,0.377000,-0.182000,0.561000,0.971000,0.000000,0.092000,5.6724
synonymous_variant,NEDD4,SILENT,NM_001284338.1:p.Asn165Asn/c.495C>T,aaC/aaT,LOW,,0.197684,0.3591,rs12440230,,,,,,chr15,56208535,56208535,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn165Asn/c.495C>T|1319|NEDD4|protein_coding|CODING|NM_001284338.1|1|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn165Asn/c.495C>T|1303|NEDD4|protein_coding|CODING|NM_001284339.1|1|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn165Asn/c.495C>T|1302|NEDD4|protein_coding|CODING|NM_001284340.1|1|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn165Asn/c.495C>T|1247|NEDD4|protein_coding|CODING|NM_198400.3|1|1),intron_variant(MODIFIER|||c.291+8309C>T|900|NEDD4|protein_coding|CODING|NM_006154.3|5|1),non_coding_exon_variant(MODIFIER|||n.795C>T||NEDD4||CODING|NR_104302.1|1|1)","NHEK:H3K9ac,HeLa-S3:DNase1,NHEK:H3K4me3,HSMM:H3K27ac,HSMM:H3K4me2,IMR90:H3K56ac,HMEC:H3K36me3,IMR90:H3K4me2,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H4K91ac,NHEK:H3K36me3,NHEK:H3K4me2,IMR90:H3K18ac,HSMM:H3K4me3,IMR90:H3K4me3",,,,0.1738,0.1455,0.1531,0.13,0.15,0.12,,,,,,,,,,,,,,,,
missense_variant,RFX7,MISSENSE,NM_022841.5:p.Asn1117His/c.3349A>C,Aat/Cat,MODERATE,,1,1,rs7170589,1(T),0.0(B),,-0.9156(T),,chr15,56386577,56386577,T,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn1117His/c.3349A>C|1460|RFX7|protein_coding|CODING|NM_022841.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),1.000(P),"0.9,0.91,0.91(T,T,T)",0.0000(T),0.074,-0.365633,5.89,5.89,-0.215000,1.519000,6.311000,0.982000,1.000000,1.000000,15.7541
synonymous_variant,RFX7,SILENT,NM_022841.5:p.Gln665Gln/c.1995G>A,caG/caA,LOW,,0.96246,1,rs11071247,,,,,,chr15,56387931,56387931,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln665Gln/c.1995G>A|1460|RFX7|protein_coding|CODING|NM_022841.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,0.999,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,RFX7,SILENT,NM_022841.5:p.Leu631Leu/c.1893A>G,ttA/ttG,LOW,COSM3754375(1),0.272364,0.5,rs12439907,,,,,,chr15,56388033,56388033,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu631Leu/c.1893A>G|1460|RFX7|protein_coding|CODING|NM_022841.5|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3732,0.2767,0.1968,0.18,0.12,0.21,,,,,,,,,,,,,,,,
synonymous_variant,MNS1,SILENT,NM_018365.2:p.Lys144Lys/c.432G>A,aaG/aaA,LOW,,0.0319489,0.005,rs17238740,,,,,,chr15,56739063,56739063,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys144Lys/c.432G>A|495|MNS1|protein_coding|CODING|NM_018365.2|4|1),downstream_gene_variant(MODIFIER||868||316|TEX9|protein_coding|CODING|NM_001286449.1||1),downstream_gene_variant(MODIFIER||868||391|TEX9|protein_coding|CODING|NM_198524.2||1)",,,,,0.0204,0.111,0.0527,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,ZNF280D,SILENT,NM_001288588.1:p.Asp974Asp/c.2922C>T,gaC/gaT,LOW,,0.989217,1,rs8043381,,,,,,chr15,56923714,56923714,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp961Asp/c.2883C>T|966|ZNF280D|protein_coding|CODING|NM_001002843.2|21|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp974Asp/c.2922C>T|979|ZNF280D|protein_coding|CODING|NM_001288588.1|22|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp974Asp/c.2922C>T|979|ZNF280D|protein_coding|CODING|NM_017661.3|22|1)","NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,ZNF280D,MISSENSE,NM_001288588.1:p.Ser603Asn/c.1808G>A,aGt/aAt,MODERATE,,0.000199681,0,rs143046400,0.14(T),"0.002,0.001(B,B)",-0.345(N),-0.9429(T),,chr15,56958922,56958922,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser590Asn/c.1769G>A|966|ZNF280D|protein_coding|CODING|NM_001002843.2|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser603Asn/c.1808G>A|979|ZNF280D|protein_coding|CODING|NM_001288588.1|15|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser603Asn/c.1808G>A|979|ZNF280D|protein_coding|CODING|NM_017661.3|15|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0,0,0.00,0.00,0.00,,0.028963(N),1.000(N),"4.09,4.47(T,T)",0.0058(T),0.02,0.440283,5.12,0.481,-0.218000,-0.110000,-0.001000,0.976000,0.987000,0.015000,4.9101
missense_variant,ZNF280D,MISSENSE,NM_001288588.1:p.Val568Ile/c.1702G>A,Gtc/Atc,MODERATE,COSM4128303(1),0.527157,0.3829,rs28620278,0.49(T),0.001(B),0.55(N),-1.0893(T),,chr15,56959028,56959028,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val555Ile/c.1663G>A|966|ZNF280D|protein_coding|CODING|NM_001002843.2|14|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val568Ile/c.1702G>A|979|ZNF280D|protein_coding|CODING|NM_001288588.1|15|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val568Ile/c.1702G>A|979|ZNF280D|protein_coding|CODING|NM_017661.3|15|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4796,0.6225,0.4066,0.48,0.64,0.41,,,1.000(P),"4.08,4.5(T,T)",0.0000(T),0.017,-0.567698,4.58,-0.931,-0.332000,-0.282000,-0.286000,0.511000,0.018000,0.059000,6.768
missense_variant,CGNL1,MISSENSE,NM_001252335.1:p.Thr380Pro/c.1138A>C,Aca/Cca,MODERATE,,0.994609,1,rs1280395,1(T),0.0(B),-2.175(N),-0.9412(T),,chr15,57731335,57731335,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr380Pro/c.1138A>C|1302|CGNL1|protein_coding|CODING|NM_001252335.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr380Pro/c.1138A>C|1302|CGNL1|protein_coding|CODING|NM_032866.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,0.003062(N),1.000(P),1.32(T),0.0000(T),0.04,-1.098002,5.79,4.87,-0.121000,0.780000,3.814000,0.168000,0.005000,0.946000,13.442
missense_variant,CGNL1,MISSENSE,NM_001252335.1:p.Ser459Phe/c.1376C>T,tCc/tTc,MODERATE,,0.190495,0.1994,rs7182648,0.19(T),0.11(B),0.55(N),-0.9739(T),,chr15,57731573,57731573,C,T,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser459Phe/c.1376C>T|1302|CGNL1|protein_coding|CODING|NM_001252335.1|3|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser459Phe/c.1376C>T|1302|CGNL1|protein_coding|CODING|NM_032866.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.183,0.1599,0.2107,0.21,0.21,0.22,,0.000002(N),1.000(P),3.26(T),0.0000(T),0.075,1.011341,5.34,4.4,0.609000,1.191000,1.337000,0.004000,0.019000,0.002000,3.8164
missense_variant,CGNL1,MISSENSE,NM_001252335.1:p.Thr511Ala/c.1531A>G,Aca/Gca,MODERATE,,0.862021,0.8472,rs1280396,0.88(T),0.0(B),0(N),-1.0066(T),,chr15,57731728,57731728,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr511Ala/c.1531A>G|1302|CGNL1|protein_coding|CODING|NM_001252335.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr511Ala/c.1531A>G|1302|CGNL1|protein_coding|CODING|NM_032866.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8579,0.889,0.826,0.85,0.89,0.83,,0.635425(N),1.000(P),3.26(T),0.0000(T),0.016,-1.646607,5.63,1.46,-0.119000,0.074000,0.369000,0.001000,0.000000,0.000000,1.4893
synonymous_variant,GCOM1,SILENT,NM_001285900.3:p.Ala168Ala/c.504A>G,gcA/gcG,LOW,,0.534545,0.5536,rs2069133,,,,,,chr15,57918069,57918069,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala168Ala/c.504A>G|550|GCOM1|protein_coding|CODING|NM_001018090.6|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala168Ala/c.504A>G|445|GCOM1|protein_coding|CODING|NM_001018091.6|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala168Ala/c.504A>G|466|MYZAP|protein_coding|CODING|NM_001018100.4|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala168Ala/c.504A>G|765|GCOM1|protein_coding|CODING|NM_001285900.3|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala168Ala/c.504A>G|438|MYZAP|protein_coding|CODING|NM_152451.7|5|1),non_coding_exon_variant(MODIFIER|||n.635A>G||GCOM1||CODING|NR_104367.2|5|1),non_coding_exon_variant(MODIFIER|||n.635A>G||GCOM1||CODING|NR_104368.2|5|1),non_coding_exon_variant(MODIFIER|||n.635A>G||GCOM1||CODING|NR_104369.2|5|1),non_coding_exon_variant(MODIFIER|||n.635A>G||GCOM1||CODING|NR_104370.2|5|1),non_coding_exon_variant(MODIFIER|||n.635A>G||GCOM1||CODING|NR_104371.3|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3",,,,0.5521,0.5821,0.4026,0.46,0.55,0.41,,,,,,,,,,,,,,,,
splice_donor_variant,GCOM1,protein_coding,NM_001285900.3:c.524A>G,,HIGH,,1,1,rs2958059,,,,,GCOM1:0.38(8);MYZAP:1.00(2);,chr15,57918090,57918090,A,G,hom,"splice_donor_variant(HIGH|||c.524A>G|550|GCOM1|protein_coding|CODING|NM_001018090.6|5|1),splice_donor_variant(HIGH|||c.524A>G|445|GCOM1|protein_coding|CODING|NM_001018091.6|5|1),splice_donor_variant(HIGH|||c.524A>G|466|MYZAP|protein_coding|CODING|NM_001018100.4|5|1),splice_donor_variant(HIGH|||c.524A>G|765|GCOM1|protein_coding|CODING|NM_001285900.3|5|1),splice_donor_variant(HIGH|||c.524A>G|438|MYZAP|protein_coding|CODING|NM_152451.7|5|1),splice_donor_variant(HIGH|||n.655A>G||GCOM1||CODING|NR_104367.2|5|1),splice_donor_variant(HIGH|||n.655A>G||GCOM1||CODING|NR_104368.2|5|1),splice_donor_variant(HIGH|||n.655A>G||GCOM1||CODING|NR_104369.2|5|1),splice_donor_variant(HIGH|||n.655A>G||GCOM1||CODING|NR_104370.2|5|1),splice_donor_variant(HIGH|||n.655A>G||GCOM1||CODING|NR_104371.3|5|1),intron_variant(MODIFIER|||c.523+2A>G|550|GCOM1|protein_coding|CODING|NM_001018090.6|5|1),intron_variant(MODIFIER|||c.523+2A>G|445|GCOM1|protein_coding|CODING|NM_001018091.6|5|1),intron_variant(MODIFIER|||c.523+2A>G|466|MYZAP|protein_coding|CODING|NM_001018100.4|5|1),intron_variant(MODIFIER|||c.523+2A>G|765|GCOM1|protein_coding|CODING|NM_001285900.3|5|1),intron_variant(MODIFIER|||c.523+2A>G|438|MYZAP|protein_coding|CODING|NM_152451.7|5|1),intron_variant(MODIFIER|||n.654+2A>G||GCOM1||CODING|NR_104367.2|5|1),intron_variant(MODIFIER|||n.654+2A>G||GCOM1||CODING|NR_104368.2|5|1),intron_variant(MODIFIER|||n.654+2A>G||GCOM1||CODING|NR_104369.2|5|1),intron_variant(MODIFIER|||n.654+2A>G||GCOM1||CODING|NR_104370.2|5|1),intron_variant(MODIFIER|||n.654+2A>G||GCOM1||CODING|NR_104371.3|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,GCOM1,SILENT,NM_001285900.3:p.Thr419Thr/c.1257T>C,acT/acC,LOW,,1,1,rs1991252,,,,,,chr15,57967219,57967219,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr419Thr/c.1257T>C|550|GCOM1|protein_coding|CODING|NM_001018090.6|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr419Thr/c.1257T>C|445|GCOM1|protein_coding|CODING|NM_001018091.6|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr419Thr/c.1257T>C|466|MYZAP|protein_coding|CODING|NM_001018100.4|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr419Thr/c.1257T>C|765|GCOM1|protein_coding|CODING|NM_001285900.3|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr391Thr/c.1173T>C|438|MYZAP|protein_coding|CODING|NM_152451.7|11|1),intron_variant(MODIFIER|||n.1250+35476T>C||GCOM1||CODING|NR_104370.2|10|1),intron_variant(MODIFIER|||n.1868-9381T>C||GCOM1||CODING|NR_104367.2|12|1),intron_variant(MODIFIER|||n.1334+13488T>C||GCOM1||CODING|NR_104368.2|11|1),intron_variant(MODIFIER|||n.1334+13488T>C||GCOM1||CODING|NR_104369.2|11|1),non_coding_exon_variant(MODIFIER|||n.1304T>C||GCOM1||CODING|NR_104371.3|11|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GCOM1,SILENT,NM_001285900.3:p.Ala458Ala/c.1374C>T,gcC/gcT,LOW,,0.496406,0.4048,rs1062707,,,,,,chr15,58000981,58000981,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala458Ala/c.1374C>T|765|GCOM1|protein_coding|CODING|NM_001285900.3|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala61Ala/c.183C>T|368|POLR2M|protein_coding|CODING|NM_015532.4|2|1),intron_variant(MODIFIER|||n.1251-3201C>T||GCOM1||CODING|NR_104370.2|10|1),intron_variant(MODIFIER|||n.1335-3201C>T||GCOM1||CODING|NR_104369.2|11|1),intron_variant(MODIFIER|||c.1305-3201C>T|550|GCOM1|protein_coding|CODING|NM_001018090.6|12|1),intron_variant(MODIFIER|||c.1305-5753C>T|445|GCOM1|protein_coding|CODING|NM_001018091.6|12|1),intron_variant(MODIFIER|||n.2215-3201C>T||GCOM1||CODING|NR_104367.2|14|1),intron_variant(MODIFIER|||n.1409-3201C>T||GCOM1||CODING|NR_104368.2|12|1),intron_variant(MODIFIER|||c.114-402C>T|211|POLR2M|protein_coding|CODING|NM_001018102.2|1|1),non_coding_exon_variant(MODIFIER|||n.2295C>T||GCOM1||CODING|NR_104371.3|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5174,0.6873,0.7674,0.62,0.34,0.77,,,,,,,,,,,,,,,,
missense_variant,ALDH1A2,MISSENSE,NM_003888.3:p.Val348Ile/c.1042G>A,Gta/Ata,MODERATE,COSM3999573(2),0.372804,0.3065,rs386594259,0.55(T),"0.0,0.005,0.001(B,B,B)",1.18(L),-0.9265(T),,chr15,58256127,58256127,C,T,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val327Ile/c.979G>A|497|ALDH1A2|protein_coding|CODING|NM_001206897.1|10|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val348Ile/c.1042G>A|518|ALDH1A2|protein_coding|CODING|NM_003888.3|9|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val310Ile/c.928G>A|480|ALDH1A2|protein_coding|CODING|NM_170696.2|8|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val252Ile/c.754G>A|422|ALDH1A2|protein_coding|CODING|NM_170697.2|7|1)",K562:H3K36me3,,,,0.2618,0.3991,0.5358,0.47,0.38,0.52,,0.000003(N),1.000(P),"-1.01,-1.01,-1.01(T,T,T)",0.0000(T),0.04,1.939770,5.6,4.49,-0.269000,0.495000,1.981000,0.988000,0.999000,1.000000,8.2061
synonymous_variant,AQP9,SILENT,NM_020980.3:p.Ile179Ile/c.537C>T,atC/atT,LOW,,0.836462,0.8075,rs2249783,,,,,,chr15,58471368,58471368,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile179Ile/c.537C>T|295|AQP9|protein_coding|CODING|NM_020980.3|5|1),"K562:H3K27ac,K562:H3K4me1,HUVEC:H3K4me1,HUVEC:H3K27ac,K562:H3K4me2,K562:H2AZ,K562:DNase1",,,,0.8671,0.9207,0.9463,0.90,0.79,0.96,,,,,,,,,,,,,,,,
missense_variant,AQP9,MISSENSE,NM_020980.3:p.Thr279Ala/c.835A>G,Aca/Gca,MODERATE,,0.842851,0.8313,rs1867380,0.77(T),0.0(B),0(N),-0.9975(T),,chr15,58476281,58476281,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr279Ala/c.835A>G|295|AQP9|protein_coding|CODING|NM_020980.3|6|1),"NH-A:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.8712,0.9222,0.9463,0.90,0.79,0.96,,0.959772(N),1.000(P),"-1.71,-1.71(D,D)",0.0000(T),0.035,-0.701650,5.84,-3.7,-0.726000,-0.492000,.,0.017000,0.000000,.,9.0681
synonymous_variant,LIPC,SILENT,NM_000236.2:p.Val155Val/c.465G>T,gtG/gtT,LOW,,0.478035,0.2401,rs690,,,,,,chr15,58834741,58834741,G,T,hom,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val155Val/c.465G>T|499|LIPC|protein_coding|CODING|NM_000236.2|4|1),"IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5767,0.4308,0.5606,0.58,0.56,0.59,,,,,,,,,,,,,,,,
synonymous_variant,LIPC,SILENT,NM_000236.2:p.Gly197Gly/c.591A>G,ggA/ggG,LOW,,0.16893,0.4018,rs6082,,,,,,chr15,58837957,58837957,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly197Gly/c.591A>G|499|LIPC|protein_coding|CODING|NM_000236.2|5|1),"NH-A:DNase1,HepG2:H3K36me3",,,,0.1237,0.1801,0.0656,0.08,0.09,0.08,,,,,,,,,,,,,,,,
missense_variant,LIPC,MISSENSE,NM_000236.2:p.Asn215Ser/c.644A>G,aAt/aGt,MODERATE,COSM4128309(1),0.608626,0.7917,rs6083,0.04(D),"0.014,0.011(B,B)",1.495(L),-0.9944(T),,chr15,58838010,58838010,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn215Ser/c.644A>G|499|LIPC|protein_coding|CODING|NM_000236.2|5|1),HepG2:H3K36me3,,,,0.59,0.4928,0.3847,0.47,0.68,0.36,,0.109222(N),1.000(P),"-2.61,-2.61,-2.61,-2.61(D,D,D,D)",0.0000(T),0.013,1.396310,5.44,-0.0709,-0.490000,0.025000,2.059000,0.397000,0.226000,0.005000,2.8406
missense_variant,LIPC,MISSENSE,NM_000236.2:p.Phe356Leu/c.1068C>A,ttC/ttA,MODERATE,,0.936102,0.9405,rs3829462,0.68(T),"0.055,0.132(B,B)",1.935(M),-0.9681(T),,chr15,58853079,58853079,C,A,hom,missense_variant(MODERATE|MISSENSE|ttC/ttA|p.Phe356Leu/c.1068C>A|499|LIPC|protein_coding|CODING|NM_000236.2|7|1),,,,,0.9857,0.987,0.9861,0.95,0.87,0.99,,0.000000(D),0.000(P),"0.04,0.04,0.04,0.04(T,T,T,T)",0.0000(T),0.291,2.038001,5.79,3.91,0.563000,0.789000,3.447000,0.815000,1.000000,1.000000,12.0576
synonymous_variant,LIPC,SILENT,NM_000236.2:p.Thr366Thr/c.1098A>G,acA/acG,LOW,,0.935903,0.9395,rs3829461,,,,,,chr15,58853109,58853109,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr366Thr/c.1098A>G|499|LIPC|protein_coding|CODING|NM_000236.2|7|1),,,,,0.9857,0.987,0.9861,0.95,0.87,0.99,,,,,,,,,,,,,,,,
missense_variant,RNF111,MISSENSE,NM_001270528.1:p.Asn9Lys/c.27C>G,aaC/aaG,MODERATE,COSM3754377(3),0.231629,0.1399,rs2899642,0.06(T),"0.05,0.097,0.197(B,B,B)",1.1(L),-0.9132(T),,chr15,59323048,59323048,C,G,het,"missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn9Lys/c.27C>G|995|RNF111|protein_coding|CODING|NM_001270528.1|2|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn9Lys/c.27C>G|985|RNF111|protein_coding|CODING|NM_001270529.1|2|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn9Lys/c.27C>G|994|RNF111|protein_coding|CODING|NM_001270530.1|2|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn9Lys/c.27C>G|986|RNF111|protein_coding|CODING|NM_017610.7|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3139,0.2925,0.4781,0.33,0.09,0.45,,0.000160(N),0.983(P),"2.29,2.31(T,T)",0.0000(T),0.104,1.548288,5.58,3.7,0.491000,0.716000,0.738000,0.964000,0.998000,1.000000,5.9476
synonymous_variant,RNF111,SILENT,NM_001270528.1:p.Ser352Ser/c.1056C>A,tcC/tcA,LOW,COSM1179762(3),0.441693,0.4405,rs1446239,,,,,,chr15,59347929,59347929,C,A,het,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser352Ser/c.1056C>A|995|RNF111|protein_coding|CODING|NM_001270528.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser352Ser/c.1056C>A|985|RNF111|protein_coding|CODING|NM_001270529.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser352Ser/c.1056C>A|994|RNF111|protein_coding|CODING|NM_001270530.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser352Ser/c.1056C>A|986|RNF111|protein_coding|CODING|NM_017610.7|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2352,0.4986,0.3161,0.44,0.62,0.35,,,,,,,,,,,,,,,,
synonymous_variant,FAM81A,SILENT,NM_152450.2:p.Ala106Ala/c.318C>T,gcC/gcT,LOW,COSM4128313(1),0.779553,0.8185,rs4296198,,,,,,chr15,59784493,59784493,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala106Ala/c.318C>T|368|FAM81A|protein_coding|CODING|NM_152450.2|4|1),,,,,0.7965,0.9006,0.8191,0.76,0.68,0.80,,,,,,,,,,,,,,,,
missense_variant,GCNT3,MISSENSE,NM_004751.2:p.His260Gln/c.780C>G,caC/caG,MODERATE,,0.00658946,0,rs386472983,0.36(T),0.072(B),2.25(M),-1.0054(T),,chr15,59911217,59911217,C,G,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His260Gln/c.780C>G|438|GCNT3|protein_coding|CODING|NM_004751.2|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0061,0.0159,0.0159,0.01,0.00,0.01,,0.218967(N),0.992(N),2.81(T),0.0159(T),0.027,-0.324592,5.95,1.94,0.655000,0.407000,0.052000,0.003000,0.133000,0.002000,5.7111
synonymous_variant,BNIP2,SILENT,NM_004330.2:p.Leu322Leu/c.964T>C,Tta/Cta,LOW,,0.332069,0.5615,rs1135148,,,,,,chr15,59963488,59963488,A,G,hom,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu322Leu/c.964T>C|435|BNIP2|protein_coding|CODING|NM_004330.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3476,0.3847,0.3519,0.28,0.15,0.34,,,,,,,,,,,,,,,,
missense_variant,BNIP2,MISSENSE,NM_004330.2:p.Val42Ala/c.125T>C,gTg/gCg,MODERATE,COSM3749301(4),0.409744,0.5913,rs3087328,,,,-0.9476(T),,chr15,59981515,59981515,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val42Ala/c.125T>C|435|BNIP2|protein_coding|CODING|NM_004330.2|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,GM12878:Pax5,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.3712,0.4352,0.4423,,,,,,1.000(P),1.27(T),0.0000(T),0.011,1.695189,4.95,0.885,-0.132000,0.009000,0.154000,0.084000,0.099000,0.104000,3.6572
missense_variant,BNIP2,MISSENSE,NM_004330.2:p.Pro17Leu/c.50C>T,cCc/cTc,MODERATE,COSM3754382(6),0.409744,0.5903,rs754641,,,,-0.9244(T),,chr15,59981590,59981590,G,A,hom,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro17Leu/c.50C>T|435|BNIP2|protein_coding|CODING|NM_004330.2|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,GM12878:Pax5,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,H1ESC:Gabp,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HeLa-S3:Tr4,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.3712,0.4352,0.4443,,,,,,1.000(P),1.16(T),0.0000(T),0.056,0.693525,0.561,-0.743,-2.092000,-0.329000,-1.736000,0.072000,0.017000,0.013000,.
missense_variant,ANXA2,MISSENSE,NM_001002858.2:p.Val116Leu/c.346G>T,Gtg/Ttg,MODERATE,COSM3754383(1),0.0485224,0,rs17845226,1(T),"0.028,0.001,0.002(B,B,B)",0.48(N),-0.9596(T),,chr15,60653205,60653205,C,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val98Leu/c.292G>T|339|ANXA2|protein_coding|CODING|NM_001002857.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val116Leu/c.346G>T|357|ANXA2|protein_coding|CODING|NM_001002858.2|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val98Leu/c.292G>T|339|ANXA2|protein_coding|CODING|NM_001136015.2|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val98Leu/c.292G>T|339|ANXA2|protein_coding|CODING|NM_004039.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0419,0.0951,0.1252,0.10,0.02,0.13,,0.019332(U),0.000(P),"4.31,4.31,4.31,4.31(T,T,T,T)",0.0001(T),0.524,2.611899,5.4,5.4,0.561000,2.701000,2.631000,0.995000,0.971000,0.985000,7.4902
synonymous_variant,ANXA2,SILENT,NM_001002858.2:p.Cys8Cys/c.24T>C,tgT/tgC,LOW,COSM1129161(18),0.794329,0.9087,rs12904657,,,,,,chr15,60690089,60690089,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys8Cys/c.24T>C|357|ANXA2|protein_coding|CODING|NM_001002858.2|1|1),intron_variant(MODIFIER|||c.-12+53T>C|339|ANXA2|protein_coding|CODING|NM_004039.2|1|1),intron_variant(MODIFIER|||c.-117+53T>C|339|ANXA2|protein_coding|CODING|NM_001136015.2|1|1),intron_variant(MODIFIER|||c.-93+53T>C|339|ANXA2|protein_coding|CODING|NM_001002857.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HMEC:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,GM12878:POU2F2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K36me3,HeLa-S3:Cfos,CD4:PolII,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.7791,0.7752,0.7187,0.75,0.77,0.73,,,,,,,,,,,,,,,,
synonymous_variant,ICE2,SILENT,NM_024611.5:p.Tyr781Tyr/c.2343T>C,taT/taC,LOW,,0.594649,0.8244,rs1063100,,,,,,chr15,60734697,60734697,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr644Tyr/c.1932T>C|845|ICE2|protein_coding|CODING|NM_001018089.2|12|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr781Tyr/c.2343T>C|982|ICE2|protein_coding|CODING|NM_024611.5|12|1)","K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8016,0.6513,0.5726,0.48,0.29,0.57,,,,,,,,,,,,,,,,
synonymous_variant,RORA,SILENT,NM_134260.2:p.Thr509Thr/c.1527C>A,acC/acA,LOW,,0.940296,1,rs11071539,,,,,,chr15,60789798,60789798,G,T,hom,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr501Thr/c.1503C>A|548|RORA|protein_coding|CODING|NM_002943.3|11|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr509Thr/c.1527C>A|556|RORA|protein_coding|CODING|NM_134260.2|12|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr476Thr/c.1428C>A|523|RORA|protein_coding|CODING|NM_134261.2|11|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr421Thr/c.1263C>A|468|RORA|protein_coding|CODING|NM_134262.2|10|1),intron_variant(MODIFIER|||n.222-12809G>T||LOC101928784||NON_CODING|NR_120341.1|1|1),intron_variant(MODIFIER|||n.289+9008G>T||LOC101928784||NON_CODING|NR_120339.1|2|1),intron_variant(MODIFIER|||n.289+9008G>T||LOC101928784||NON_CODING|NR_120340.1|2|1),intron_variant(MODIFIER|||n.289+9008G>T||LOC101928784||NON_CODING|NR_120342.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9877,0.9755,0.999,0.94,0.83,1.00,,,,,,,,,,,,,,,,
missense_variant,VPS13C,MISSENSE,NM_020821.2:p.Ser2913Asn/c.8738G>A,aGt/aAt,MODERATE,,0.516374,0.4732,rs10851704,1(T),"0.001,0.001,0.001,0.001,0.001(B,B,B,B,B)",-0.775(N),-0.9137(T),,chr15,62202482,62202482,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2913Asn/c.8738G>A|3628|VPS13C|protein_coding|CODING|NM_001018088.2|64|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2870Asn/c.8609G>A|3710|VPS13C|protein_coding|CODING|NM_017684.4|62|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2870Asn/c.8609G>A|3585|VPS13C|protein_coding|CODING|NM_018080.3|62|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2913Asn/c.8738G>A|3753|VPS13C|protein_coding|CODING|NM_020821.2|64|1)","HUVEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3",,,,0.4611,0.6671,0.5517,0.52,0.50,0.54,,0.000014(N),1.000(P),"1.65,1.65,1.65(T,T,T)",0.0000(T),0.005,0.067920,5.85,3.54,-0.254000,0.133000,0.853000,0.983000,0.971000,1.000000,9.5913
missense_variant,VPS13C,MISSENSE,NM_020821.2:p.Leu2157Phe/c.6469C>T,Ctc/Ttc,MODERATE,,0.00439297,0,rs75341202,0.73(T),"0.061,0.138,0.09,0.066(B,B,B,B)",2.075(M),-1.0437(T),,chr15,62219337,62219337,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu2157Phe/c.6469C>T|3628|VPS13C|protein_coding|CODING|NM_001018088.2|52|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu2114Phe/c.6340C>T|3710|VPS13C|protein_coding|CODING|NM_017684.4|50|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu2114Phe/c.6340C>T|3585|VPS13C|protein_coding|CODING|NM_018080.3|50|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu2157Phe/c.6469C>T|3753|VPS13C|protein_coding|CODING|NM_020821.2|52|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0.0086,0.0149,0.01,0.00,0.01,,0.000320(D),1.000(D),"0.94,0.94,0.94(T,T,T)",0.0649(T),0.549,4.058149,5.41,5.41,0.655000,2.687000,4.744000,0.994000,0.997000,1.000000,13.3168
missense_variant,VPS13C,MISSENSE,NM_020821.2:p.Arg974Lys/c.2921G>A,aGg/aAg,MODERATE,,0.755391,0.8542,rs3784634,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.5(N),-0.9853(T),,chr15,62259637,62259637,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg974Lys/c.2921G>A|3628|VPS13C|protein_coding|CODING|NM_001018088.2|29|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg931Lys/c.2792G>A|3710|VPS13C|protein_coding|CODING|NM_017684.4|27|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg931Lys/c.2792G>A|3585|VPS13C|protein_coding|CODING|NM_018080.3|27|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg974Lys/c.2921G>A|3753|VPS13C|protein_coding|CODING|NM_020821.2|29|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7311,0.6052,0.5636,0.67,0.85,0.57,,0.019320(N),1.000(P),"2.33,2.33,2.33(T,T,T)",0.0000(T),0.046,-0.448323,5.2,1.62,-1.390000,0.084000,1.921000,0.699000,0.995000,0.997000,9.7549
missense_variant,C2CD4B,MISSENSE,NM_001007595.2:p.Phe276Val/c.826T>G,Ttc/Gtc,MODERATE,COSM4128319(3),0.734425,0.5853,rs8040712,0.49(T),0.0(B),0.345(N),-0.9675(T),,chr15,62456358,62456358,A,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe276Val/c.826T>G|364|C2CD4B|protein_coding|CODING|NM_001007595.2|2|1),"GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.683,0.7622,0.837,,,,,0.003953(N),1.000(P),-1.12(T),0.0000(T),0.084,0.560274,3.13,-0.587,-1.484000,-0.140000,-0.369000,0.000000,0.000000,0.316000,7.611
missense_variant,C2CD4B,MISSENSE,NM_001007595.2:p.Pro80Leu/c.239C>T,cCg/cTg,MODERATE,,0.165335,0.001,rs8025811,0(D),0.997(D),2.815(M),-1.6137(T),,chr15,62456945,62456945,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro80Leu/c.239C>T|364|C2CD4B|protein_coding|CODING|NM_001007595.2|2|1),"GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.1462,0.1196,0.1481,0.16,0.25,0.11,,0.000000(U),0.000(P),-3.11(D),0.0001(T),0.3,4.976714,4.05,4.05,0.462000,2.250000,5.809000,0.554000,1.000000,1.000000,15.7311
synonymous_variant,TLN2,SILENT,NM_015059.2:p.Leu498Leu/c.1492C>T,Ctg/Ttg,LOW,COSM287729(2),0.350439,0.6855,rs12905981,,,,,,chr15,62990971,62990971,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu498Leu/c.1492C>T|2542|TLN2|protein_coding|CODING|NM_015059.2|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2648,0.3718,0.2942,0.28,0.21,0.32,,,,,,,,,,,,,,,,
synonymous_variant,TLN2,SILENT,NM_015059.2:p.Ala931Ala/c.2793C>T,gcC/gcT,LOW,,0.739816,0.9544,rs1320191,,,,,,chr15,63009804,63009804,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala931Ala/c.2793C>T|2542|TLN2|protein_coding|CODING|NM_015059.2|21|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8374,0.9135,0.8767,0.72,0.42,0.88,,,,,,,,,,,,,,,,
synonymous_variant,TLN2,SILENT,NM_015059.2:p.Cys1508Cys/c.4524C>T,tgC/tgT,LOW,COSM4128322(1),0.648962,0.6101,rs8033767,,,,,,chr15,63047778,63047778,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1508Cys/c.4524C>T|2542|TLN2|protein_coding|CODING|NM_015059.2|34|1),"HUVEC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7904,0.8256,0.7624,0.66,0.49,0.74,,,,,,,,,,,,,,,,
synonymous_variant,TPM1,SILENT,NM_000366.5:p.Ala151Ala/c.453C>A,gcC/gcA,LOW,COSM3754389(1),0.705671,0.9504,rs1071646,,,,,,chr15,63351840,63351840,C,A,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala151Ala/c.453C>A|284|TPM1|protein_coding|CODING|NM_000366.5|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala151Ala/c.453C>A|284|TPM1|protein_coding|CODING|NM_001018004.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala151Ala/c.453C>A|284|TPM1|protein_coding|CODING|NM_001018005.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala151Ala/c.453C>A|284|TPM1|protein_coding|CODING|NM_001018006.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala151Ala/c.453C>A|284|TPM1|protein_coding|CODING|NM_001018007.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala115Ala/c.345C>A|245|TPM1|protein_coding|CODING|NM_001018008.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala151Ala/c.453C>A|284|TPM1|protein_coding|CODING|NM_001018020.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala151Ala/c.453C>A|284|TPM1|protein_coding|CODING|NM_001301244.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala115Ala/c.345C>A|248|TPM1|protein_coding|CODING|NM_001301289.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000024584.2|RCV000036332.1,,0.7321,0.5591,0.66,0.64,0.62,0.65,,,,,,,,,,,,,,,,
missense_variant,LACTB,MISSENSE,NM_032857.4:p.Met5Leu/c.13A>C,Atg/Ctg,MODERATE,COSM3749302(1),0.794928,0.997,rs34317102,1(T),0.0(B),-0.55(N),-0.9688(T),,chr15,63414083,63414083,A,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met5Leu/c.13A>C|332|LACTB|protein_coding|CODING|NM_001288585.1|1|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met5Leu/c.13A>C|547|LACTB|protein_coding|CODING|NM_032857.4|1|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met5Leu/c.13A>C|373|LACTB|protein_coding|CODING|NM_171846.3|1|1)","K562:ZBTB7A,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,HepG2:Srf,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,K562:Tr4,CD4:DNase1,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,H1ESC:Srf,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HeLa-S3:Tr4,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.7955,0.8256,0.7316,0.77,0.74,0.79,,0.300689(N),1.000(P),1.42(T),0.0000(T),0.037,-0.800779,3.1,3.1,-0.677000,0.640000,0.346000,0.117000,0.956000,0.994000,7.626
missense_variant,LACTB,MISSENSE,NM_032857.4:p.Gly17Ser/c.49G>A,Ggc/Agc,MODERATE,,0.0191693,0,rs139879323,0.07(T),0.001(B),0.695(N),-1.0480(T),,chr15,63414119,63414119,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly17Ser/c.49G>A|332|LACTB|protein_coding|CODING|NM_001288585.1|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly17Ser/c.49G>A|547|LACTB|protein_coding|CODING|NM_032857.4|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly17Ser/c.49G>A|373|LACTB|protein_coding|CODING|NM_171846.3|1|1)","K562:ZBTB7A,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HeLa-S3:Tr4,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.0337,0.0187,0.0447,0.02,0.01,0.03,,0.890780(N),1.000(N),0.94(T),0.0128(T),0.053,3.237203,3.11,1.14,-0.671000,0.161000,-0.127000,0.352000,0.601000,0.001000,5.8616
missense_variant,LACTB,MISSENSE,NM_032857.4:p.Arg469Lys/c.1406G>A,aGg/aAg,MODERATE,COSM3754397(2),0.709864,0.9891,rs2729835,1(T),0.0(B),-1.355(N),-0.9540(T),,chr15,63433766,63433766,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg469Lys/c.1406G>A|547|LACTB|protein_coding|CODING|NM_032857.4|6|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7587,0.5749,0.6571,0.65,0.61,0.67,,0.000000(N),0.000(P),1.14(T),0.0000(T),0.054,-0.246928,5.64,4.49,-0.360000,0.486000,3.610000,0.529000,1.000000,1.000000,8.2279
synonymous_variant,HERC1,SILENT,NM_003922.3:p.Ile4293Ile/c.12879A>T,atA/atT,LOW,COSM147936(3),0.636781,0.0972,rs10851731,,,,,,chr15,63922752,63922752,T,A,hom,synonymous_variant(LOW|SILENT|atA/atT|p.Ile4293Ile/c.12879A>T|4861|HERC1|protein_coding|CODING|NM_003922.3|69|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5951,0.6484,0.8976,0.87,0.86,0.88,,,,,,,,,,,,,,,,
synonymous_variant,HERC1,SILENT,NM_003922.3:p.Leu3913Leu/c.11739C>G,ctC/ctG,LOW,COSM147937(1),0.321486,0.0764,rs2228517,,,,,,chr15,63932513,63932513,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu3913Leu/c.11739C>G|4861|HERC1|protein_coding|CODING|NM_003922.3|61|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.428,0.5268,0.46,0.33,0.53,,,,,,,,,,,,,,,,
missense_variant,HERC1,MISSENSE,NM_003922.3:p.Glu3722Asp/c.11166G>C,gaG/gaC,MODERATE,COSM3754401(1),0.636382,0.1022,rs2229749,1(T),0.0(B),0.55(N),-0.9405(T),,chr15,63937209,63937209,C,G,hom,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu3722Asp/c.11166G>C|4861|HERC1|protein_coding|CODING|NM_003922.3|57|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.591,0.647,0.8956,0.87,0.86,0.88,,0.001190(N),1.000(P),1.96(T),0.0000(T),0.013,-0.819633,5.96,-3.28,-1.556000,-0.303000,-0.224000,0.581000,0.983000,0.621000,2.83
synonymous_variant,HERC1,SILENT,NM_003922.3:p.Pro3031Pro/c.9093G>A,ccG/ccA,LOW,COSM3754402(1),0.635383,0.0962,rs2228511,,,,,,chr15,63954029,63954029,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro3031Pro/c.9093G>A|4861|HERC1|protein_coding|CODING|NM_003922.3|45|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.59,0.647,0.8966,0.87,0.86,0.88,,,,,,,,,,,,,,,,
missense_variant,HERC1,MISSENSE,NM_003922.3:p.Ile2220Val/c.6658A>G,Atc/Gtc,MODERATE,COSM147939(2),0.366014,0.0704,rs2228510,0.01(D),0.001(B),1.1(L),-0.9457(T),,chr15,63970456,63970456,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile2220Val/c.6658A>G|4861|HERC1|protein_coding|CODING|NM_003922.3|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.316,0.4395,0.5368,0.52,0.47,0.55,,0.000542(D),0.009(P),1.6(T),0.0000(T),0.117,2.237397,5.7,4.56,-0.313000,0.977000,2.202000,0.957000,0.997000,0.999000,11.8289
missense_variant,HERC1,MISSENSE,NM_003922.3:p.Gly1696Ala/c.5087G>C,gGc/gCc,MODERATE,COSM3754407(1),0.635982,0.0982,rs2255243,1(T),"0.0,0.0(B,B)",0(N),-0.9571(T),,chr15,63988357,63988357,C,G,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly1696Ala/c.5087G>C|4861|HERC1|protein_coding|CODING|NM_003922.3|27|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.593,0.647,0.8956,0.87,0.86,0.88,,0.128946(N),1.000(P),1.98(T),0.0000(T),0.062,-0.601842,5.24,4.29,-0.127000,0.667000,3.883000,0.386000,0.961000,1.000000,15.683
missense_variant,HERC1,MISSENSE,NM_003922.3:p.Leu1682Val/c.5044C>G,Cta/Gta,MODERATE,,0.0101837,0,rs74814914,0(D),"0.978,0.967(D,D)",1.04(L),-0.9262(T),,chr15,63988400,63988400,G,C,het,missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu1682Val/c.5044C>G|4861|HERC1|protein_coding|CODING|NM_003922.3|27|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0202,0.0288,0.03,0.01,0.04,,0.000019(D),1.000(D),0.79(T),0.0598(T),0.546,4.299964,5.54,5.54,0.650000,2.607000,5.658000,0.955000,1.000000,1.000000,12.7906
missense_variant,HERC1,MISSENSE,NM_003922.3:p.Glu978Ala/c.2933A>C,gAa/gCa,MODERATE,,,,,0.47(T),0.076(B),0(N),-1.0626(T),,chr15,64021784,64021784,T,G,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu978Ala/c.2933A>C|4861|HERC1|protein_coding|CODING|NM_003922.3|15|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000019(U),1.000(D),1.27(T),0.0441(T),0.37,3.486343,5.33,5.33,0.460000,2.008000,7.894000,0.986000,1.000000,1.000000,15.3075
stop_gained,HERC1,NONSENSE,NM_003922.3:p.Glu978*/c.2932G>T,Gaa/Taa,HIGH,,,,,0.34(T),,,,HERC1:1.00(1);HERC1:1.00(1);,chr15,64021785,64021785,C,A,het,stop_gained(HIGH|NONSENSE|Gaa/Taa|p.Glu978*/c.2932G>T|4861|HERC1|protein_coding|CODING|NM_003922.3|15|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000019(U),1.000(A),,,.,9.163174,5.33,5.33,0.563000,2.481000,7.676000,0.989000,0.998000,1.000000,19.0307
synonymous_variant,FAM96A,SILENT,NM_032231.5:p.Glu39Glu/c.117A>G,gaA/gaG,LOW,,0.916933,1,rs332259,,,,,,chr15,64385851,64385851,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu39Glu/c.117A>G|102|FAM96A|protein_coding|CODING|NM_001014812.2|1|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu39Glu/c.117A>G|102|FAM96A|protein_coding|CODING|NM_001289108.1|1|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu39Glu/c.117A>G|160|FAM96A|protein_coding|CODING|NM_032231.5|1|1),non_coding_exon_variant(MODIFIER|||n.357A>G||FAM96A||CODING|NR_110310.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,0.998,0.9755,0.996,0.91,0.75,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TRIP4,SILENT,NM_016213.4:p.Glu532Glu/c.1596G>A,gaG/gaA,LOW,,0.817891,0.9524,rs7167612,,,,,,chr15,64737225,64737225,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu532Glu/c.1596G>A|581|TRIP4|protein_coding|CODING|NM_016213.4|12|1),"NHEK:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27ac,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.6462,0.9481,0.9632,0.86,0.70,0.95,,,,,,,,,,,,,,,,
synonymous_variant,ZNF609,SILENT,NM_015042.1:p.Pro276Pro/c.828C>T,ccC/ccT,LOW,,0.980032,1,rs525878,,,,,,chr15,64915106,64915106,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro276Pro/c.828C>T|1411|ZNF609|protein_coding|CODING|NM_015042.1|2|1),"CD4:H3K9me1,H1ESC:H3K36me3,CD4:H2BK5ac,CD4:DNase1,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,GM12878:EBF,CD4:H3K36ac,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,GM12878:Max,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.999,0.9971,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,PIF1,MISSENSE,NM_001286496.1:p.Ile640Asn/c.1919T>A,aTc/aAc,MODERATE,,0.276957,0.1101,rs17802279,1(T),0.0(B),0(N),-0.9303(T),,chr15,65108504,65108504,A,T,het,"missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile640Asn/c.1919T>A|641|PIF1|protein_coding|CODING|NM_001286496.1|13|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile587Asn/c.1760T>A|588|PIF1|protein_coding|CODING|NM_001286499.1|13|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile640Asn/c.1919T>A|641|PIF1|protein_coding|CODING|NM_025049.3|13|1),intron_variant(MODIFIER|||c.1866+269T>A|707|PIF1|protein_coding|CODING|NM_001286497.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2669,0.2608,0.4891,0.41,0.31,0.46,,,0.999(P),-0.05(T),0.0000(T),0.105,-1.028031,5.66,3.27,-0.257000,0.070000,0.543000,0.605000,0.431000,0.947000,2.6979
synonymous_variant,PIF1,SILENT,NM_001286497.1:p.Phe69Phe/c.207T>C,ttT/ttC,LOW,COSM4128345(1),0.990216,1,rs12899195,,,,,,chr15,65116328,65116328,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe69Phe/c.207T>C|641|PIF1|protein_coding|CODING|NM_001286496.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe69Phe/c.207T>C|707|PIF1|protein_coding|CODING|NM_001286497.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe16Phe/c.48T>C|588|PIF1|protein_coding|CODING|NM_001286499.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe69Phe/c.207T>C|641|PIF1|protein_coding|CODING|NM_025049.3|2|1)","H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K36me3,NHEK:H3K4me2,HSMM:H3K4me3,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12",,,,1,0.9957,1,,,,,,,,,,,,,,,,,,,
missense_variant,ANKDD1A,MISSENSE,NM_182703.4:p.Lys355Glu/c.1063A>G,Aag/Gag,MODERATE,COSM1129152(2),0.246206,0.127,rs34988193,0.2(T),0.958(D),1.16(L),-0.9215(T),,chr15,65235776,65235776,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys355Glu/c.1063A>G|522|ANKDD1A|protein_coding|CODING|NM_182703.4|11|1),splice_region_variant(LOW|||c.1063A>G|522|ANKDD1A|protein_coding|CODING|NM_182703.4|11|1)","IMR90:H3K36me3,GM06990:H3K36me3",,,,0.4489,0.232,0.336,0.29,0.17,0.35,,0.000006(D),0.000(P),"2.38,2.38,2.38,2.36(T,T,T,T)",0.0000(T),0.484,4.071106,5.42,4.27,0.533000,1.046000,8.227000,0.685000,1.000000,1.000000,11.4729
synonymous_variant,ANKDD1A,SILENT,NM_182703.4:p.Ala364Ala/c.1092T>C,gcT/gcC,LOW,,0.552915,0.3909,rs2414865,,,,,,chr15,65236875,65236875,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala364Ala/c.1092T>C|522|ANKDD1A|protein_coding|CODING|NM_182703.4|12|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.3573,0.4463,0.55,0.72,0.46,,,,,,,,,,,,,,,,
synonymous_variant,RASL12,SILENT,NM_016563.2:p.Thr211Thr/c.633C>T,acC/acT,LOW,COSM3754411(4),0.423722,0.7837,rs2232762,,,,,,chr15,65347405,65347405,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr211Thr/c.633C>T|266|RASL12|protein_coding|CODING|NM_016563.2|5|1),downstream_gene_variant(MODIFIER||1671||128|SLC51B|protein_coding|CODING|NM_178859.3||1)","H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.318,0.5202,0.4095,0.35,0.24,0.40,,,,,,,,,,,,,,,,
missense_variant,KBTBD13,MISSENSE,NM_001101362.2:p.Ala81Val/c.242C>T,gCc/gTc,MODERATE,COSM3749303(10),0.521765,0.7312,rs2919358,0.33(T),0.653(P),0.655(N),-0.9692(T),,chr15,65369395,65369395,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala81Val/c.242C>T|458|KBTBD13|protein_coding|CODING|NM_001101362.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000117309.1,,0.316,0.5447,0.3887,0.40,0.50,0.35,,,0.001(P),-0.29(T),0.0000(T),0.295,4.061996,4.6,4.6,0.650000,2.390000,7.251000,0.931000,0.996000,1.000000,17.2241
synonymous_variant,KBTBD13,SILENT,NM_001101362.2:p.Ala126Ala/c.378G>T,gcG/gcT,LOW,COSM3754413(5),0.501597,0.7302,rs2946642,,,,,,chr15,65369531,65369531,G,T,het,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala126Ala/c.378G>T|458|KBTBD13|protein_coding|CODING|NM_001101362.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000117310.1,,0.316,0.5403,0.3877,0.38,0.47,0.33,,,,,,,,,,,,,,,,
synonymous_variant,KBTBD13,SILENT,NM_001101362.2:p.Glu266Glu/c.798A>G,gaA/gaG,LOW,COSM3749304(9),0.903754,0.9831,rs2919359,,,,,,chr15,65369951,65369951,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu266Glu/c.798A>G|458|KBTBD13|protein_coding|CODING|NM_001101362.2|1|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000117312.1,,0.9008,0.866,0.8439,0.88,0.92,0.86,,,,,,,,,,,,,,,,
synonymous_variant,KBTBD13,SILENT,NM_001101362.2:p.Gly400Gly/c.1200T>C,ggT/ggC,LOW,COSM3754414(4),0.989417,1,rs2919360,,,,,,chr15,65370353,65370353,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly400Gly/c.1200T>C|458|KBTBD13|protein_coding|CODING|NM_001101362.2|1|1),"NHEK:CTCF,HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,NHEK:H3K27me3,CD4:CTCF,IMR90:H3K27me3,HepG2:DNase1,H1ESC:Rad21,H1ESC:CTCF",,RCV000117308.1,,1,0.9928,0.999,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,CILP,MISSENSE,NM_003613.3:p.Gly1166Ser/c.3496G>A,Ggt/Agt,MODERATE,,0.805711,0.9921,rs938952,0.11(T),0.001(B),0(N),-1.0255(T),,chr15,65489128,65489128,C,T,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1166Ser/c.3496G>A|1184|CILP|protein_coding|CODING|NM_003613.3|9|1),"HUVEC:H3K27me3,K562:CTCF,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.8824,0.8718,0.8022,0.73,0.60,0.80,,0.453819(N),1.000(P),1.3(T),0.0000(T),0.022,-0.749557,5.32,3.46,-0.902000,0.262000,1.396000,0.001000,0.003000,0.027000,4.8948
missense_variant,CILP,MISSENSE,NM_003613.3:p.Gln979Arg/c.2936A>G,cAg/cGg,MODERATE,,0.991014,1,rs2679117,1(T),0.0(B),-0.235(N),-0.9213(T),,chr15,65489688,65489688,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln979Arg/c.2936A>G|1184|CILP|protein_coding|CODING|NM_003613.3|9|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,0.99,0.96,1.00,,0.253626(N),1.000(P),3.01(T),0.0000(T),0.007,-1.681485,5.63,-8.8,-1.595000,-1.771000,-0.901000,0.697000,0.327000,0.000000,12.3683
missense_variant,CILP,MISSENSE,NM_003613.3:p.Lys575Glu/c.1723A>G,Aag/Gag,MODERATE,,0.991014,1,rs2679118,1(T),0.0(B),-1.15(N),-0.9620(T),,chr15,65490901,65490901,T,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys575Glu/c.1723A>G|1184|CILP|protein_coding|CODING|NM_003613.3|9|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,0.99,0.96,1.00,,0.232119(N),1.000(P),1.01(T),0.0000(T),0.056,-2.576792,5.63,3.6,-0.119000,0.723000,0.310000,0.063000,0.993000,0.635000,10.0129
missense_variant,CILP,MISSENSE,NM_003613.3:p.Ile395Thr/c.1184T>C,aTa/aCa,MODERATE,COSM3754415(1),0.496605,0.1429,rs2073711,0.15(T),0.001(B),2.085(M),-0.9833(T),,chr15,65494212,65494212,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile395Thr/c.1184T>C|1184|CILP|protein_coding|CODING|NM_003613.3|8|1),splice_region_variant(LOW|||c.1184T>C|1184|CILP|protein_coding|CODING|NM_003613.3|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000006692.1,,0.3763,0.6254,0.6471,0.64,0.64,0.64,,0.000073(N),0.006(P),1.19(T),0.0000(T),0.222,1.587634,5.71,3.4,-0.263000,0.523000,4.093000,0.790000,1.000000,1.000000,9.4938
missense_variant,IGDCC3,MISSENSE,NM_004884.3:p.Val751Leu/c.2251G>T,Gtg/Ttg,MODERATE,COSM434160(2),0.614617,0.8482,rs12907128,0.39(T),0.001(B),0(N),-0.9625(T),,chr15,65621441,65621441,C,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val751Leu/c.2251G>T|814|IGDCC3|protein_coding|CODING|NM_004884.3|14|1),"H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8088,0.4841,0.5974,0.53,0.43,0.58,,0.911846(N),1.000(P),-0.11(T),0.0000(T),0.113,1.488150,5.69,-5.23,-1.181000,-0.789000,-0.442000,0.005000,0.000000,0.638000,0.4385
synonymous_variant,IGDCC3,SILENT,NM_004884.3:p.Leu692Leu/c.2076A>G,ctA/ctG,LOW,COSM4128352(1),0.969649,1,rs509652,,,,,,chr15,65621857,65621857,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu692Leu/c.2076A>G|814|IGDCC3|protein_coding|CODING|NM_004884.3|13|1),"H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9755,0.9861,0.96,0.92,0.98,,,,,,,,,,,,,,,,
synonymous_variant,IGDCC3,SILENT,NM_004884.3:p.Thr254Thr/c.762C>T,acC/acT,LOW,,,,rs143327105,,,,,,chr15,65627127,65627127,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr254Thr/c.762C>T|814|IGDCC3|protein_coding|CODING|NM_004884.3|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,IGDCC3,SILENT,NM_004884.3:p.Ala40Ala/c.120T>C,gcT/gcC,LOW,COSM4128353(1),0.909145,0.8333,rs666623,,,,,,chr15,65667724,65667724,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala40Ala/c.120T>C|814|IGDCC3|protein_coding|CODING|NM_004884.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.9141,0.9424,0.8917,0.91,0.95,0.89,,,,,,,,,,,,,,,,
synonymous_variant,IGDCC4,SILENT,NM_020962.1:p.Ala687Ala/c.2061T>C,gcT/gcC,LOW,COSM4128355(1),0.195088,0.2391,rs2277582,,,,,,chr15,65684533,65684533,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala687Ala/c.2061T>C|1250|IGDCC4|protein_coding|CODING|NM_020962.1|11|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1585,0.3069,0.165,0.16,0.15,0.16,,,,,,,,,,,,,,,,
missense_variant,IGDCC4,MISSENSE,NM_020962.1:p.Asn301Ser/c.902A>G,aAc/aGc,MODERATE,,0.241613,0.2391,rs12442757,0.63(T),0.011(B),0.475(N),-0.9606(T),,chr15,65689267,65689267,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn301Ser/c.902A>G|1250|IGDCC4|protein_coding|CODING|NM_020962.1|6|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2086,0.3285,0.1839,0.20,0.25,0.18,,0.350348(N),1.000(P),1.48(T),0.0000(T),0.0,-0.469022,4.15,0.596,-1.403000,-0.035000,1.129000,0.016000,0.953000,1.000000,6.1538
missense_variant,IGDCC4,MISSENSE,NM_020962.1:p.Ala52Pro/c.154G>C,Gct/Cct,MODERATE,,0.144369,0.0417,rs34355056,0.51(T),0.016(B),0.36(N),-1.1074(T),,chr15,65703625,65703625,C,G,het,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala52Pro/c.154G>C|1250|IGDCC4|protein_coding|CODING|NM_020962.1|2|1),"HUVEC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.091,0.196,0.1471,0.17,0.21,0.15,,0.128174(N),0.976(P),-1.02(T),0.0002(T),0.078,-0.463746,5.07,3.0,0.563000,1.088000,0.420000,0.113000,0.448000,0.414000,6.3413
synonymous_variant,PTPLAD1,SILENT,NM_016395.2:p.Thr211Thr/c.633G>A,acG/acA,LOW,COSM3754421(1),0.110623,0.0774,rs11539008,,,,,,chr15,65856653,65856653,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr211Thr/c.633G>A|362|PTPLAD1|protein_coding|CODING|NM_016395.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0808,0.1484,0.17,0.16,0.11,0.19,,,,,,,,,,,,,,,,
synonymous_variant,VWA9,SILENT,NM_001207058.1:p.Leu373Leu/c.1119G>A,ctG/ctA,LOW,,0.0201677,0.002,rs75178492,,,,,,chr15,65877174,65877174,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu312Leu/c.936G>A|439|VWA9|protein_coding|CODING|NM_001136043.2|10|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu373Leu/c.1119G>A|500|VWA9|protein_coding|CODING|NM_001207058.1|10|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu334Leu/c.1002G>A|461|VWA9|protein_coding|CODING|NM_001207059.1|9|1),non_coding_exon_variant(MODIFIER|||n.1427G>A||VWA9||CODING|NR_045104.1|10|1),non_coding_exon_variant(MODIFIER|||n.1681G>A||VWA9||CODING|NR_045105.2|10|1),non_coding_exon_variant(MODIFIER|||n.1588G>A||VWA9||CODING|NR_045106.2|10|1),non_coding_exon_variant(MODIFIER|||n.1319G>A||VWA9||CODING|NR_045901.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,CD4:H2BK20ac,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.0358,0.0144,0.0497,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,DENND4A,SILENT,NM_001144823.1:p.Val780Val/c.2340G>A,gtG/gtA,LOW,COSM3999585(1),0.246406,0.1935,rs17810074,,,,,,chr15,65994733,65994733,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val780Val/c.2340G>A|1906|DENND4A|protein_coding|CODING|NM_001144823.1|17|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val780Val/c.2340G>A|1863|DENND4A|protein_coding|CODING|NM_005848.3|17|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3487,0.3977,0.326,0.23,0.10,0.29,,,,,,,,,,,,,,,,
missense_variant,MEGF11,MISSENSE,NM_032445.2:p.His317Arg/c.950A>G,cAc/cGc,MODERATE,,0.989217,1,rs333550,0.81(T),"0.001,0.001(B,B)",-0.785(N),-0.9958(T),,chr15,66257408,66257408,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His317Arg/c.950A>G|1044|MEGF11|protein_coding|CODING|NM_032445.2|9|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.999,0.9986,0.999,0.99,0.97,1.00,,0.001735(N),0.000(P),"1.1,1.1,1.1,1.1,1.1,1.1(T,T,T,T,T,T)",0.0000(T),0.293,0.251469,4.97,0.559,-0.263000,-0.442000,-0.399000,0.909000,0.755000,0.068000,2.0669
synonymous_variant,MEGF11,SILENT,NM_032445.2:p.Ala177Ala/c.531A>G,gcA/gcG,LOW,COSM3749306(17),0.964856,1,rs551474,,,,,,chr15,66274690,66274690,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala177Ala/c.531A>G|1044|MEGF11|protein_coding|CODING|NM_032445.2|6|1),"CD4:H2AZ,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,1,0.9914,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,MEGF11,MISSENSE,NM_032445.2:p.Ser95Asn/c.284G>A,aGc/aAc,MODERATE,COSM3754431(3),0.427516,0.4762,rs16949528,0.44(T),0.003(B),2.005(M),-0.9250(T),,chr15,66411441,66411441,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser95Asn/c.284G>A|1044|MEGF11|protein_coding|CODING|NM_032445.2|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4826,0.2867,0.2555,0.36,0.53,0.28,,,0.000(P),"-2.2,-2.2,-2.13(D,D,D)",0.0000(T),0.005,1.569365,5.29,1.74,-0.269000,-0.184000,1.643000,0.913000,0.279000,0.920000,9.9341
synonymous_variant,DIS3L,SILENT,NM_001143688.1:p.Asn407Asn/c.1221T>C,aaT/aaC,LOW,COSM3754433(2),0.187899,0.1855,rs17851970,0.07(T),,,-1.0110(T),,chr15,66612965,66612965,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn407Asn/c.1221T>C|1054|DIS3L|protein_coding|CODING|NM_001143688.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn324Asn/c.972T>C|971|DIS3L|protein_coding|CODING|NM_133375.3|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.1686,0.2614,0.20,0.08,0.27,,,0.000(P),0.58(T),0.0000(T),.,2.594292,5.11,-4.54,0.459000,-0.986000,0.232000,0.995000,0.815000,0.992000,8.8639
missense_variant,DIS3L,MISSENSE,NM_001143688.1:p.Arg759His/c.2276G>A,cGc/cAc,MODERATE,COSM1374175(1),0.00319489,0,rs35711894,0(D),0.998(D),1.815(L),-0.7945(T),,chr15,66621382,66621382,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg759His/c.2276G>A|1054|DIS3L|protein_coding|CODING|NM_001143688.1|13|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg676His/c.2027G>A|971|DIS3L|protein_coding|CODING|NM_133375.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0072,0.0099,0.01,0.00,0.01,,0.000002(N),1.000(D),"1.19,1.19(T,T)",0.1470(T),0.676,4.754633,5.76,4.85,0.563000,1.427000,7.891000,0.708000,0.681000,1.000000,13.8123
missense_variant,TIPIN,MISSENSE,NM_017858.2:p.Arg53Pro/c.158G>C,cGt/cCt,MODERATE,,0.983227,1,rs9806123,1(T),0.0(B),-2.045(N),-0.9554(T),,chr15,66644521,66644521,C,G,hom,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg53Pro/c.158G>C|301|TIPIN|protein_coding|CODING|NM_017858.2|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||200|TIPIN|protein_coding|CODING|NM_001289986.1|3|1),5_prime_UTR_variant(MODIFIER||2761|c.-70G>C|200|TIPIN|protein_coding|CODING|NM_001289986.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.98,0.95,1.00,,0.000000(N),0.000(P),2.81(T),0.0000(T),0.4,-0.918748,4.8,4.8,-0.371000,1.145000,0.631000,0.177000,1.000000,1.000000,14.2325
missense_variant,RPL4,MISSENSE,NM_000968.3:p.Ile285Thr/c.854T>C,aTt/aCt,MODERATE,,,,,0.94(T),0.004(B),-2.525(N),-0.9493(T),,chr15,66792694,66792694,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile285Thr/c.854T>C|427|RPL4|protein_coding|CODING|NM_000968.3|8|1),downstream_gene_variant(MODIFIER||896|||SNORD18C||NON_CODING|NR_002443.1||1),downstream_gene_variant(MODIFIER||1666|||SNORD18B||NON_CODING|NR_002442.1||1)","H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.026766(N),1.000(N),,0.0086(T),0.121,0.544602,5.03,3.91,0.533000,1.902000,4.172000,0.875000,0.958000,1.000000,3.2028
missense_variant,ZWILCH,MISSENSE,NM_017975.4:p.Ser344Gly/c.1030A>G,Agt/Ggt,MODERATE,COSM3754436(1),0.181709,0.1825,rs11071896,1(T),0.0(B),-2.215(N),-0.9755(T),,chr15,66821250,66821250,A,G,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser230Gly/c.688A>G|477|ZWILCH|protein_coding|CODING|NM_001287821.1|11|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser230Gly/c.688A>G|477|ZWILCH|protein_coding|CODING|NM_001287822.1|10|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser230Gly/c.688A>G|477|ZWILCH|protein_coding|CODING|NM_001287823.1|10|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser344Gly/c.1030A>G|591|ZWILCH|protein_coding|CODING|NM_017975.4|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3252,0.1585,0.2535,0.19,0.07,0.25,,0.000011(N),0.983(P),"1.11,1.11,1.11(T,T,T)",0.0000(T),0.008,0.888157,5.26,3.19,0.374000,0.566000,4.667000,0.464000,0.029000,1.000000,8.9379
synonymous_variant,SMAD3,SILENT,NM_005902.3:p.Leu103Leu/c.309A>G,ctA/ctG,LOW,,0.834065,0.7619,rs1065080,,,,,,chr15,67457335,67457335,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu59Leu/c.177A>G|381|SMAD3|protein_coding|CODING|NM_001145103.1|2|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu103Leu/c.309A>G|425|SMAD3|protein_coding|CODING|NM_005902.3|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||320|SMAD3|protein_coding|CODING|NM_001145102.1|2|1),5_prime_UTR_variant(MODIFIER||7|c.-7A>G|320|SMAD3|protein_coding|CODING|NM_001145102.1|2|1),upstream_gene_variant(MODIFIER||1158||230|SMAD3|protein_coding|CODING|NM_001145104.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.7802,0.9135,0.8608,0.88,0.87,0.88,,,,,,,,,,,,,,,,
synonymous_variant,IQCH,SILENT,NM_001031715.2:p.Arg652Arg/c.1956T>C,cgT/cgC,LOW,,0.997804,1,rs7495023,,,,,,chr15,67692502,67692502,T,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg652Arg/c.1956T>C|1027|IQCH|protein_coding|CODING|NM_001031715.2|14|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg309Arg/c.927T>C|684|IQCH|protein_coding|CODING|NM_001284347.1|9|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg313Arg/c.939T>C|621|IQCH|protein_coding|CODING|NM_001284348.1|11|1)","HUVEC:H3K27me3,K562:DNase1",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,IQCH,MISSENSE,NM_001031715.2:p.Val932Leu/c.2794G>C,Gtt/Ctt,MODERATE,,0.997804,1,rs3985641,0.76(T),"0.001,0.002,0.001(B,B,B)",0(N),-0.9714(T),,chr15,67768151,67768151,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val932Leu/c.2794G>C|1027|IQCH|protein_coding|CODING|NM_001031715.2|18|1),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val589Leu/c.1765G>C|684|IQCH|protein_coding|CODING|NM_001284347.1|13|1),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val593Leu/c.1777G>C|621|IQCH|protein_coding|CODING|NM_001284348.1|15|1),intron_variant(MODIFIER|||n.430-9102C>G||IQCH-AS1||NON_CODING|NR_040052.1|2|1),intron_variant(MODIFIER|||n.403-9075C>G||IQCH-AS1||NON_CODING|NR_040051.1|2|1)",,,,,1,1,1,1.00,0.99,1.00,,0.152824(N),1.000(P),"0.9,2.45,2.45,0.9(T,T,T,T)",0.0000(T),0.084,-0.564850,5.95,-0.479,-0.215000,-0.255000,0.196000,0.395000,0.617000,0.932000,10.0599
synonymous_variant,SKOR1,SILENT,NM_001258024.1:p.Tyr556Tyr/c.1668C>T,taC/taT,LOW,COSM3749309(2),0.0858626,0.1101,rs62015251,,,,,,chr15,68120014,68120014,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr556Tyr/c.1668C>T|868|SKOR1|protein_coding|CODING|NM_001258024.1|7|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1033,0.121,0.1193,0.06,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SKOR1,SILENT,NM_001258024.1:p.Arg784Arg/c.2350C>A,Cgg/Agg,LOW,COSM3754439(2),0.174521,0.003,rs386497051,,,,,,chr15,68124665,68124665,C,A,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg784Arg/c.2350C>A|868|SKOR1|protein_coding|CODING|NM_001258024.1|12|1),downstream_gene_variant(MODIFIER||1981|||LOC101929076||NON_CODING|NR_120345.1||1)","HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,HSMM:CTCF,NH-A:H3K27me3,HeLa-S3:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1616,0.2291,0.3986,0.34,0.15,0.44,,,,,,,,,,,,,,,,
synonymous_variant,FEM1B,SILENT,NM_015322.4:p.Asn493Asn/c.1479T>C,aaT/aaC,LOW,,0.999601,1,rs6494729,,,,,,chr15,68583175,68583175,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn493Asn/c.1479T>C|627|FEM1B|protein_coding|CODING|NM_015322.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,ITGA11,MISSENSE,NM_001004439.1:p.Leu524Arg/c.1571T>G,cTg/cGg,MODERATE,,0.897564,0.9147,rs7168069,1(T),0.0(B),-0.705(N),-1.0003(T),,chr15,68624396,68624396,A,C,het,missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu524Arg/c.1571T>G|1188|ITGA11|protein_coding|CODING|NM_001004439.1|14|1),"HUVEC:H3K27me3,NH-A:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9284,0.9078,0.8439,0.85,0.89,0.82,,0.000201(N),1.000(P),"3.87,3.87(T,T)",0.0000(T),0.036,-2.413326,5.02,4.09,-0.217000,0.526000,-0.127000,0.030000,0.938000,0.000000,3.7547
synonymous_variant,ITGA11,SILENT,NM_001004439.1:p.Arg439Arg/c.1317G>A,cgG/cgA,LOW,,0.645966,0.7956,rs2306023,,,,,,chr15,68628143,68628143,C,T,hom,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg439Arg/c.1317G>A|1188|ITGA11|protein_coding|CODING|NM_001004439.1|12|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7802,0.817,0.7913,0.64,0.34,0.79,,,,,,,,,,,,,,,,
synonymous_variant,ITGA11,SILENT,NM_001004439.1:p.Asn217Asn/c.651C>T,aaC/aaT,LOW,COSM3754444(1),0.877796,1,rs12907890,,,,,,chr15,68649587,68649587,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn217Asn/c.651C>T|1188|ITGA11|protein_coding|CODING|NM_001004439.1|7|1),"NH-A:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8681,0.8357,0.7475,0.79,0.87,0.75,,,,,,,,,,,,,,,,
synonymous_variant,ITGA11,SILENT,NM_001004439.1:p.Asn24Asn/c.72C>T,aaC/aaT,LOW,COSM3754445(1),0.0443291,0,rs11629460,,,,,,chr15,68695349,68695349,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn24Asn/c.72C>T|1188|ITGA11|protein_coding|CODING|NM_001004439.1|2|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0184,0.0749,0.1471,0.10,0.03,0.14,,,,,,,,,,,,,,,,
missense_variant,SPESP1,MISSENSE,NM_145658.3:p.Gly191Glu/c.572G>A,gGg/gAg,MODERATE,COSM4128373(1),0.534545,0.4623,rs3743093,1(T),0.0(B),0(N),-0.9252(T),,chr15,69238445,69238445,G,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly191Glu/c.572G>A|350|SPESP1|protein_coding|CODING|NM_145658.3|2|1),intron_variant(MODIFIER|||n.30-1333G>A||MIR548H4||NON_CODING|NR_031680.1|2|1),intron_variant(MODIFIER|||n.218+15389G>A||NOX5||CODING|NR_033671.2|1|1),intron_variant(MODIFIER|||n.218+15389G>A||NOX5||CODING|NR_033672.1|1|1),intron_variant(MODIFIER|||c.29+15389G>A|730|NOX5|protein_coding|CODING|NM_001184780.1|1|1)",HUVEC:H3K27me3,,,,0.4591,0.464,0.5905,0.60,0.59,0.61,,0.647055(N),1.000(P),2.09(T),0.0000(T),0.012,-1.152006,4.83,-0.354,-0.360000,-0.586000,0.155000,0.001000,0.000000,0.000000,1.0664
synonymous_variant,NOX5,SILENT,NM_024505.3:p.Cys273Cys/c.819C>T,tgC/tgT,LOW,COSM3749311(7),0.806709,0.7381,rs311893,,,,,,chr15,69325581,69325581,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys245Cys/c.735C>T|737|NOX5|protein_coding|CODING|NM_001184779.1|5|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys238Cys/c.714C>T|730|NOX5|protein_coding|CODING|NM_001184780.1|5|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys273Cys/c.819C>T|765|NOX5|protein_coding|CODING|NM_024505.3|5|1),intron_variant(MODIFIER|||n.40+85793C>T||MIR548H4||NON_CODING|NR_031680.1|3|1),non_coding_exon_variant(MODIFIER|||n.1091C>T||NOX5||CODING|NR_033671.2|6|1),non_coding_exon_variant(MODIFIER|||n.1007C>T||NOX5||CODING|NR_033672.1|6|1)",H1ESC:H3K27me3,,,,0.8865,0.9395,0.9573,0.86,0.67,0.96,,,,,,,,,,,,,,,,
synonymous_variant,NOX5,SILENT,NM_024505.3:p.Thr329Thr/c.987C>T,acC/acT,LOW,,0.80651,0.7391,rs311889,,,,,,chr15,69327825,69327825,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr301Thr/c.903C>T|737|NOX5|protein_coding|CODING|NM_001184779.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr294Thr/c.882C>T|730|NOX5|protein_coding|CODING|NM_001184780.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr329Thr/c.987C>T|765|NOX5|protein_coding|CODING|NM_024505.3|6|1),intron_variant(MODIFIER|||n.40+88037C>T||MIR548H4||NON_CODING|NR_031680.1|3|1),non_coding_exon_variant(MODIFIER|||n.1259C>T||NOX5||CODING|NR_033671.2|7|1),non_coding_exon_variant(MODIFIER|||n.1175C>T||NOX5||CODING|NR_033672.1|7|1)","GM06990:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.8865,0.9395,0.9573,0.86,0.67,0.96,,,,,,,,,,,,,,,,
missense_variant,NOX5,MISSENSE,NM_024505.3:p.Leu380Phe/c.1138C>T,Ctc/Ttc,MODERATE,,0.271166,0.124,rs12907196,0.12(T),"0.158,0.791,0.598(B,P,P)",2.105(M),-1.0220(T),,chr15,69328226,69328226,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu352Phe/c.1054C>T|737|NOX5|protein_coding|CODING|NM_001184779.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu345Phe/c.1033C>T|730|NOX5|protein_coding|CODING|NM_001184780.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu380Phe/c.1138C>T|765|NOX5|protein_coding|CODING|NM_024505.3|7|1),intron_variant(MODIFIER|||n.40+88438C>T||MIR548H4||NON_CODING|NR_031680.1|3|1),non_coding_exon_variant(MODIFIER|||n.1410C>T||NOX5||CODING|NR_033671.2|8|1),non_coding_exon_variant(MODIFIER|||n.1326C>T||NOX5||CODING|NR_033672.1|8|1)","NHEK:CTCF,K562:Max,GM06990:H3K27me3,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,GM12878:CTCF,K562:CTCFL,NHEK:H3K27me3,K562:Rad21,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.3221,0.33,0.5358,0.43,0.17,0.56,,0.039319(N),0.003(P),"-3.14,-3.14,-3.14(D,D,D)",0.0000(T),0.148,2.599053,3.38,1.18,0.313000,1.433000,0.984000,0.448000,0.434000,0.609000,6.6006
missense_variant,GLCE,MISSENSE,NM_015554.1:p.Val597Ile/c.1789G>A,Gtc/Atc,MODERATE,COSM3754446(1),0.667332,0.7411,rs3865014,1(T),0.001(B),-0.825(N),-1.0002(T),,chr15,69561518,69561518,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val597Ile/c.1789G>A|617|GLCE|protein_coding|CODING|NM_015554.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6738,0.7853,0.7674,0.67,0.49,0.77,,0.000569(N),1.000(P),1.0(T),0.0000(T),0.032,-2.804556,5.15,-3.23,-3.032000,-0.873000,0.192000,0.001000,0.008000,0.002000,8.5994
synonymous_variant,KIF23,SILENT,NM_138555.3:p.Pro481Pro/c.1443A>G,ccA/ccG,LOW,,0.766973,0.6776,rs3825858,,,,,,chr15,69728949,69728949,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro371Pro/c.1113A>G|766|KIF23|protein_coding|CODING|NM_001281301.1|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro481Pro/c.1443A>G|856|KIF23|protein_coding|CODING|NM_004856.6|14|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro481Pro/c.1443A>G|960|KIF23|protein_coding|CODING|NM_138555.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9417,0.8127,0.9553,0.85,0.61,0.97,,,,,,,,,,,,,,,,
synonymous_variant,KIF23,SILENT,NM_138555.3:p.Thr659Thr/c.1977C>T,acC/acT,LOW,,0.766773,0.6786,rs937724,,,,,,chr15,69732736,69732736,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr549Thr/c.1647C>T|766|KIF23|protein_coding|CODING|NM_001281301.1|16|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr659Thr/c.1977C>T|856|KIF23|protein_coding|CODING|NM_004856.6|17|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr659Thr/c.1977C>T|960|KIF23|protein_coding|CODING|NM_138555.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9417,0.8127,0.9553,0.85,0.61,0.97,,,,,,,,,,,,,,,,
synonymous_variant,TLE3,SILENT,NM_005078.3:p.Thr641Thr/c.1923G>A,acG/acA,LOW,,0.363019,0.256,rs1057865,,,,,,chr15,70345626,70345626,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr638Thr/c.1914G>A|769|TLE3|protein_coding|CODING|NM_001105192.2|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr633Thr/c.1899G>A|764|TLE3|protein_coding|CODING|NM_001282979.1|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr636Thr/c.1908G>A|767|TLE3|protein_coding|CODING|NM_001282980.1|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr631Thr/c.1893G>A|762|TLE3|protein_coding|CODING|NM_001282981.1|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr568Thr/c.1704G>A|699|TLE3|protein_coding|CODING|NM_001282982.1|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr641Thr/c.1923G>A|772|TLE3|protein_coding|CODING|NM_005078.3|17|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr629Thr/c.1887G>A|760|TLE3|protein_coding|CODING|NM_020908.2|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4581,0.4726,0.4791,0.40,0.27,0.47,,,,,,,,,,,,,,,,
synonymous_variant,TLE3,SILENT,NM_005078.3:p.Ser563Ser/c.1689G>A,tcG/tcA,LOW,COSM3956875(2),0.36262,0.255,rs2228178,,,,,,chr15,70346923,70346923,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser560Ser/c.1680G>A|769|TLE3|protein_coding|CODING|NM_001105192.2|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser555Ser/c.1665G>A|764|TLE3|protein_coding|CODING|NM_001282979.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser558Ser/c.1674G>A|767|TLE3|protein_coding|CODING|NM_001282980.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser553Ser/c.1659G>A|762|TLE3|protein_coding|CODING|NM_001282981.1|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser490Ser/c.1470G>A|699|TLE3|protein_coding|CODING|NM_001282982.1|14|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser563Ser/c.1689G>A|772|TLE3|protein_coding|CODING|NM_005078.3|16|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser551Ser/c.1653G>A|760|TLE3|protein_coding|CODING|NM_020908.2|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4581,0.4726,0.4781,0.40,0.27,0.47,,,,,,,,,,,,,,,,
synonymous_variant,TLE3,SILENT,NM_005078.3:p.Gly242Gly/c.726A>G,ggA/ggG,LOW,,0.674321,0.6954,rs2133977,,,,,,chr15,70351788,70351788,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly242Gly/c.726A>G|769|TLE3|protein_coding|CODING|NM_001105192.2|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly242Gly/c.726A>G|764|TLE3|protein_coding|CODING|NM_001282979.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly242Gly/c.726A>G|767|TLE3|protein_coding|CODING|NM_001282980.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly235Gly/c.705A>G|762|TLE3|protein_coding|CODING|NM_001282981.1|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly186Gly/c.558A>G|699|TLE3|protein_coding|CODING|NM_001282982.1|8|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly242Gly/c.726A>G|772|TLE3|protein_coding|CODING|NM_005078.3|10|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly242Gly/c.726A>G|760|TLE3|protein_coding|CODING|NM_020908.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6728,0.8329,0.7853,0.70,0.56,0.78,,,,,,,,,,,,,,,,
synonymous_variant,UACA,SILENT,NM_018003.2:p.Tyr985Tyr/c.2955C>T,taC/taT,LOW,,0.571685,0.5327,rs934005,,,,,,chr15,70960068,70960068,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr972Tyr/c.2916C>T|1403|UACA|protein_coding|CODING|NM_001008224.1|16|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr985Tyr/c.2955C>T|1416|UACA|protein_coding|CODING|NM_018003.2|16|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6391,0.7392,0.7634,0.65,0.36,0.79,,,,,,,,,,,,,,,,
synonymous_variant,UACA,SILENT,NM_018003.2:p.Thr51Thr/c.153C>G,acC/acG,LOW,,0.730431,0.5804,rs4776525,,,,,,chr15,70991925,70991925,G,C,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr38Thr/c.114C>G|1403|UACA|protein_coding|CODING|NM_001008224.1|2|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr51Thr/c.153C>G|1416|UACA|protein_coding|CODING|NM_018003.2|2|1)","HUVEC:H3K4me3,HUVEC:H3K9ac,HSMM:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HUVEC:H3K27ac",,,,0.8016,0.8905,0.8748,0.81,0.67,0.88,,,,,,,,,,,,,,,,
synonymous_variant,THAP10,SILENT,NM_020147.3:p.Arg112Arg/c.334C>A,Cga/Aga,LOW,COSM3754451(1),0.549121,0.5823,rs2959174,,,,,,chr15,71184278,71184278,G,T,het,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg112Arg/c.334C>A|257|THAP10|protein_coding|CODING|NM_020147.3|1|1),upstream_gene_variant(MODIFIER||504||691|LRRC49|protein_coding|CODING|NM_001199017.2||1),upstream_gene_variant(MODIFIER||504||642|LRRC49|protein_coding|CODING|NM_001199018.2||1),upstream_gene_variant(MODIFIER||504||686|LRRC49|protein_coding|CODING|NM_017691.4||1),intron_variant(MODIFIER|||c.19-1645G>T|676|LRRC49|protein_coding|CODING|NM_001284357.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,HepG2:H3K4me2,HSMM:H2AZ,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5389,0.2954,0.4066,0.51,0.71,0.41,,,,,,,,,,,,,,,,
synonymous_variant,THAP10,SILENT,NM_020147.3:p.Gly39Gly/c.117T>C,ggT/ggC,LOW,COSM3754452(2),0.545927,0.5833,rs2955035,,,,,,chr15,71184495,71184495,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly39Gly/c.117T>C|257|THAP10|protein_coding|CODING|NM_020147.3|1|1),upstream_gene_variant(MODIFIER||287||691|LRRC49|protein_coding|CODING|NM_001199017.2||1),upstream_gene_variant(MODIFIER||287||642|LRRC49|protein_coding|CODING|NM_001199018.2||1),upstream_gene_variant(MODIFIER||287||686|LRRC49|protein_coding|CODING|NM_017691.4||1),intron_variant(MODIFIER|||c.19-1428A>G|676|LRRC49|protein_coding|CODING|NM_001284357.1|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:Ini1,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.5389,0.2968,0.4066,0.50,0.70,0.41,,,,,,,,,,,,,,,,
synonymous_variant,THSD4,SILENT,NM_024817.2:p.Thr443Thr/c.1329G>A,acG/acA,LOW,COSM3754453(1),0.337061,0.6706,rs386469825,,,,,,chr15,71953045,71953045,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr83Thr/c.249G>A|658|THSD4|protein_coding|CODING|NM_001286429.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr443Thr/c.1329G>A|1018|THSD4|protein_coding|CODING|NM_024817.2|7|1)","HepG2:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3098,0.2637,0.2565,0.22,0.19,0.23,,,,,,,,,,,,,,,,
synonymous_variant,THSD4,SILENT,NM_024817.2:p.Cys752Cys/c.2256C>T,tgC/tgT,LOW,COSM3765815(2),0.199281,0.0823,rs1872056,,,,,,chr15,72040774,72040774,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys392Cys/c.1176C>T|658|THSD4|protein_coding|CODING|NM_001286429.1|8|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys752Cys/c.2256C>T|1018|THSD4|protein_coding|CODING|NM_024817.2|13|1)","H1ESC:H3K36me3,HSMM:H3K27ac,GM12878:H3K36me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,HeLa-S3:H3K27ac,NHEK:H3K36me3,HUVEC:H3K27ac",,,,0.1421,0.147,0.2644,0.27,0.29,0.25,,,,,,,,,,,,,,,,
missense_variant,MYO9A,MISSENSE,NM_006901.3:p.Asn1631Ile/c.4892A>T,aAt/aTt,MODERATE,,0.00698882,0,rs80283650,0.19(T),"0.549,0.491,0.063(P,P,B)",0.895(L),-0.7449(T),,chr15,72189952,72189952,T,A,het,missense_variant(MODERATE|MISSENSE|aAt/aTt|p.Asn1631Ile/c.4892A>T|2548|MYO9A|protein_coding|CODING|NM_006901.3|25|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0072,0.0268,0.02,0.00,0.02,,,1.000(N),"-1.87,-1.86,-1.86(D,D,D)",0.2123(T),0.339,2.264465,5.92,3.59,0.528000,0.481000,2.025000,0.796000,0.008000,0.787000,5.1529
synonymous_variant,MYO9A,SILENT,NM_006901.3:p.Arg1257Arg/c.3771A>G,agA/agG,LOW,,0.592851,0.3849,rs2415128,,,,,,chr15,72191073,72191073,T,C,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg1257Arg/c.3771A>G|2548|MYO9A|protein_coding|CODING|NM_006901.3|25|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7035,0.6326,0.7614,0.68,0.57,0.73,,,,,,,,,,,,,,,,
missense_variant,MYO9A,MISSENSE,NM_006901.3:p.Gly1193Glu/c.3578G>A,gGa/gAa,MODERATE,,0.891973,0.8254,rs2415129,1(T),"0.0,0.0(B,B)",-0.55(N),-0.9380(T),,chr15,72191266,72191266,C,T,hom,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly1193Glu/c.3578G>A|2548|MYO9A|protein_coding|CODING|NM_006901.3|25|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9519,0.964,0.9761,0.92,0.83,0.97,,,1.000(P),"-1.65,-1.65,-1.64(D,D,D)",0.0000(T),0.057,-1.114851,4.91,3.75,-0.352000,0.219000,2.471000,0.994000,0.942000,0.361000,8.3024
missense_variant,SENP8,MISSENSE,NM_001166340.1:p.Thr207Ala/c.619A>G,Acc/Gcc,MODERATE,,0.947883,1,rs930871,0.77(T),0.0(B),-0.38(N),-0.9907(T),,chr15,72432583,72432583,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr207Ala/c.619A>G|212|SENP8|protein_coding|CODING|NM_001166340.1|2|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr207Ala/c.619A>G|212|SENP8|protein_coding|CODING|NM_001172109.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr207Ala/c.619A>G|212|SENP8|protein_coding|CODING|NM_001172110.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr207Ala/c.619A>G|212|SENP8|protein_coding|CODING|NM_001172111.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr207Ala/c.619A>G|212|SENP8|protein_coding|CODING|NM_145204.3|2|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.987,0.998,0.95,0.85,1.00,,0.002779(N),1.000(P),"0.97,0.97,0.97,0.97(T,T,T,T)",0.0000(T),0.014,-1.889319,5.76,0.976,-0.941000,0.039000,0.810000,0.183000,0.937000,0.770000,2.8475
synonymous_variant,PKM,SILENT,NM_001206796.1:p.Asn220Asn/c.660C>T,aaC/aaT,LOW,,0.0355431,0,rs10514,,,,,,chr15,72502141,72502141,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn72Asn/c.216C>T|457|PKM|protein_coding|CODING|NM_001206797.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn220Asn/c.660C>T|605|PKM|protein_coding|CODING|NM_001206796.1|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn131Asn/c.393C>T|516|PKM|protein_coding|CODING|NM_001206798.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn151Asn/c.453C>T|536|PKM|protein_coding|CODING|NM_001206799.1|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn146Asn/c.438C>T|531|PKM|protein_coding|CODING|NM_002654.4|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn146Asn/c.438C>T|531|PKM|protein_coding|CODING|NM_182470.2|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn146Asn/c.438C>T|531|PKM|protein_coding|CODING|NM_182471.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0297,0.049,0.0865,0.07,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,HEXA,SILENT,NM_000520.4:p.Glu506Glu/c.1518A>G,gaA/gaG,LOW,,0.876997,1,rs4777502,,,,,,chr15,72637795,72637795,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu506Glu/c.1518A>G|529|HEXA|protein_coding|CODING|NM_000520.4|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079051.3,,0.999,0.9741,0.996,0.87,0.62,1.00,,,,,,,,,,,,,,,,
missense_variant,HEXA,MISSENSE,NM_000520.4:p.Ile436Val/c.1306A>G,Ata/Gta,MODERATE,,0.876398,0.999,rs1800431,0.25(T),"0.0,0.0(B,B)",0.48(N),-0.9148(T),,chr15,72638892,72638892,T,C,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile436Val/c.1306A>G|529|HEXA|protein_coding|CODING|NM_000520.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079049.3,,0.998,0.9741,0.996,0.87,0.62,1.00,,0.059914(N),0.107(P),"-3.71,-3.71(D,D)",0.0000(T),0.062,2.834763,5.88,-7.77,-2.108000,-2.317000,-0.202000,0.903000,0.000000,0.000000,9.8864
synonymous_variant,BBS4,SILENT,NM_033028.4:p.Phe302Phe/c.906T>C,ttT/ttC,LOW,,0.960463,1,rs12914333,,,,,,chr15,73023937,73023937,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe130Phe/c.390T>C|347|BBS4|protein_coding|CODING|NM_001252678.1|11|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe302Phe/c.906T>C|519|BBS4|protein_coding|CODING|NM_033028.4|12|1),non_coding_exon_variant(MODIFIER|||n.1013T>C||BBS4||CODING|NR_045565.1|13|1),non_coding_exon_variant(MODIFIER|||n.1268T>C||BBS4||CODING|NR_045566.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.987,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,ADPGK,MISSENSE,NM_031284.4:p.Lys184Arg/c.551A>G,aAg/aGg,MODERATE,,0.20627,0.2252,rs8024644,0.35(T),"0.615,0.615,0.355(P,P,B)",1.625(L),-1.0205(T),,chr15,73052840,73052840,T,C,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys184Arg/c.551A>G|496|ADPGK|protein_coding|CODING|NM_031284.4|4|1),non_coding_exon_variant(MODIFIER|||n.858A>G||ADPGK||CODING|NR_023318.1|4|1),non_coding_exon_variant(MODIFIER|||n.356A>G||ADPGK||CODING|NR_023319.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.1657,0.1441,0.18,0.29,0.13,,0.000000(D),0.000(P),0.77(T),0.0000(T),0.239,3.785862,5.44,5.44,0.533000,2.068000,7.603000,0.993000,1.000000,1.000000,15.5
synonymous_variant,ADPGK,SILENT,NM_031284.4:p.Gly182Gly/c.546T>C,ggT/ggC,LOW,,0.195687,0.2252,rs8023358,,,,,,chr15,73052845,73052845,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly182Gly/c.546T>C|496|ADPGK|protein_coding|CODING|NM_031284.4|4|1),non_coding_exon_variant(MODIFIER|||n.853T>C||ADPGK||CODING|NR_023318.1|4|1),non_coding_exon_variant(MODIFIER|||n.351T>C||ADPGK||CODING|NR_023319.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.1657,0.1441,0.17,0.26,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ADPGK,SILENT,NM_031284.4:p.Ala146Ala/c.438A>G,gcA/gcG,LOW,,0.960064,0.999,rs11634630,,,,,,chr15,73067234,73067234,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala146Ala/c.438A>G|496|ADPGK|protein_coding|CODING|NM_031284.4|2|1),intron_variant(MODIFIER|||n.327+8566A>G||ADPGK||CODING|NR_023319.1|1|1),non_coding_exon_variant(MODIFIER|||n.745A>G||ADPGK||CODING|NR_023318.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.987,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HCN4,SILENT,NM_005477.2:p.Pro1200Pro/c.3600A>G,ccA/ccG,LOW,,0.859625,0.879,rs529004,,,,,,chr15,73614834,73614834,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1200Pro/c.3600A>G|1203|HCN4|protein_coding|CODING|NM_005477.2|8|1),"H1ESC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000081299.1|RCV000125355.1,,0.8722,0.9539,0.9374,0.88,0.76,0.93,,,,,,,,,,,,,,,,
missense_variant,HCN4,MISSENSE,NM_005477.2:p.Gly951Val/c.2852G>T,gGc/gTc,MODERATE,,,,,0.14(T),0.0(B),1.355(L),0.2516(D),,chr15,73615582,73615582,C,A,het,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly951Val/c.2852G>T|1203|HCN4|protein_coding|CODING|NM_005477.2|8|1),"H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),-4.62(D),0.8157(D),0.133,0.684818,2.93,2.0,0.448000,0.433000,2.571000,0.663000,0.788000,0.055000,4.5748
missense_variant,CD276,MISSENSE,NM_001024736.1:p.Pro97Leu/c.290C>T,cCg/cTg,MODERATE,,0.20028,0.1349,rs7173448,0.04(D),"0.0,0.014,0.001,0.001(B,B,B,B)",0.6(N),-0.9723(T),,chr15,73994806,73994806,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro97Leu/c.290C>T|534|CD276|protein_coding|CODING|NM_001024736.1|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro97Leu/c.290C>T|316|CD276|protein_coding|CODING|NM_025240.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:CTCF",,,,0.136,0.1023,0.0964,0.19,0.39,0.10,,,0.000(P),"-0.17,-0.17(T,T)",0.0000(T),0.246,-0.573026,2.9,-0.162,-1.206000,-0.033000,0.663000,0.261000,0.785000,0.099000,3.4963
missense_variant,CD276,MISSENSE,NM_001024736.1:p.Arg111Ser/c.331C>A,Cgc/Agc,MODERATE,,0.200479,0.1349,rs7173476,0.18(T),"0.283,0.067,0.633,0.499(B,B,P,P)",0.555(N),-0.8530(T),,chr15,73994847,73994847,C,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg111Ser/c.331C>A|534|CD276|protein_coding|CODING|NM_001024736.1|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg111Ser/c.331C>A|316|CD276|protein_coding|CODING|NM_025240.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,H1ESC:CTCF",,,,0.136,0.1023,0.0964,0.20,0.39,0.10,,,0.000(P),"4.33,4.33(T,T)",0.0000(T),0.347,1.896302,2.94,1.99,0.313000,0.774000,0.357000,0.617000,0.997000,0.632000,12.1282
synonymous_variant,CD276,SILENT,NM_001024736.1:p.Pro157Pro/c.471A>C,ccA/ccC,LOW,COSM3765817(1),0.20028,0.1349,rs111801073,,,,,,chr15,73995165,73995165,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro157Pro/c.471A>C|534|CD276|protein_coding|CODING|NM_001024736.1|4|1),intron_variant(MODIFIER|||c.418+231A>C|316|CD276|protein_coding|CODING|NM_025240.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.136,0.1023,0.0964,0.19,0.39,0.10,,,,,,,,,,,,,,,,
missense_variant,CD276,MISSENSE,NM_001024736.1:p.Thr160Met/c.479C>T,aCg/aTg,MODERATE,COSM3765818(2),0.206669,0.1349,rs11574479,0.09(T),"0.005,0.005,0.003(B,B,B)",1.04(L),-1.0174(T),,chr15,73995173,73995173,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr160Met/c.479C>T|534|CD276|protein_coding|CODING|NM_001024736.1|4|1),intron_variant(MODIFIER|||c.418+239C>T|316|CD276|protein_coding|CODING|NM_025240.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1524,0.111,0.1044,0.20,0.39,0.11,,,1.000(P),"-1.05,-1.05(T,T)",0.0000(T),0.257,-0.256765,3.14,-2.87,-1.924000,-0.919000,-1.294000,0.528000,0.833000,0.000000,4.9264
missense_variant,CD276,MISSENSE,NM_001024736.1:p.Arg267His/c.800G>A,cGc/cAc,MODERATE,COSM434258(2),0.121006,0.127,rs11574483,0.18(T),"0.004,0.006,0.001(B,B,B)",0.245(N),-1.1041(T),,chr15,73996066,73996066,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg267His/c.800G>A|534|CD276|protein_coding|CODING|NM_001024736.1|5|1),intron_variant(MODIFIER|||c.419-451G>A|316|CD276|protein_coding|CODING|NM_025240.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.137,0.0793,0.0944,0.11,0.15,0.10,,0.011760(N),0.000(P),"-0.16,-0.16(T,T)",0.0006(T),0.074,2.054435,4.84,1.73,0.561000,0.574000,0.403000,0.970000,0.976000,0.307000,6.0698
missense_variant,CD276,MISSENSE,NM_001024736.1:p.Ala279Thr/c.835G>A,Gca/Aca,MODERATE,,0.197883,0.127,rs10083681,0.23(T),"0.003,0.005,0.004(B,B,B)",-0.125(N),-0.9633(T),,chr15,73996101,73996101,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala279Thr/c.835G>A|534|CD276|protein_coding|CODING|NM_001024736.1|5|1),intron_variant(MODIFIER|||c.419-416G>A|316|CD276|protein_coding|CODING|NM_025240.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.136,0.0965,0.0964,0.20,0.39,0.10,,0.221732(N),0.000(P),"-0.16,-0.16(T,T)",0.0000(T),0.042,1.717707,4.84,3.92,0.561000,1.164000,1.835000,0.957000,0.947000,0.983000,9.0187
synonymous_variant,CD276,SILENT,NM_001024736.1:p.Leu473Leu/c.1419G>C,ctG/ctC,LOW,,0.199481,0.1349,rs2291012,,,,-0.9986(T),,chr15,74000729,74000729,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu473Leu/c.1419G>C|534|CD276|protein_coding|CODING|NM_001024736.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu255Leu/c.765G>C|316|CD276|protein_coding|CODING|NM_025240.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.136,0.1009,0.0944,0.19,0.39,0.10,,,0.000(P),,0.0000(T),.,-1.215225,5.13,-4.27,-2.000000,-0.707000,0.239000,0.006000,0.357000,0.996000,15.0849
synonymous_variant,CD276,SILENT,NM_001024736.1:p.Ala503Ala/c.1509T>C,gcT/gcC,LOW,,0.200479,0.1349,rs11552770,,,,,,chr15,74001993,74001993,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala503Ala/c.1509T>C|534|CD276|protein_coding|CODING|NM_001024736.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala285Ala/c.855T>C|316|CD276|protein_coding|CODING|NM_025240.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.136,0.1023,0.0964,0.20,0.39,0.10,,,,,,,,,,,,,,,,
synonymous_variant,C15orf59,SILENT,NM_001039614.1:p.Ser119Ser/c.357T>C,tcT/tcC,LOW,COSM434259(2),0.448083,0.5853,rs28594180,,,,,,chr15,74032783,74032783,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser119Ser/c.357T>C|293|C15orf59|protein_coding|CODING|NM_001039614.1|2|1),"H1ESC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,IMR90:H3K27me3",,,,0.5695,0.4669,0.4056,0.37,0.31,0.40,,,,,,,,,,,,,,,,
missense_variant,LOXL1,MISSENSE,NM_005576.2:p.Arg141Leu/c.422G>T,cGg/cTg,MODERATE,COSM3749312(7),0.311302,0.5179,rs1048661,0.01(D),0.325(B),1.67(L),-0.9112(T),,chr15,74219546,74219546,G,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg141Leu/c.422G>T|574|LOXL1|protein_coding|CODING|NM_005576.2|1|1),intron_variant(MODIFIER|||n.184+572C>A||LOXL1-AS1||NON_CODING|NR_040070.1|1|1),intron_variant(MODIFIER|||n.184+860C>A||LOXL1-AS1||NON_CODING|NR_040068.1|1|1),intron_variant(MODIFIER|||n.184+860C>A||LOXL1-AS1||NON_CODING|NR_040069.1|1|1),intron_variant(MODIFIER|||n.133+449C>A||LOXL1-AS1||NON_CODING|NR_040066.1|1|1),intron_variant(MODIFIER|||n.133+449C>A||LOXL1-AS1||NON_CODING|NR_040067.1|1|1)","CD4:H3K18ac,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,CD4:H2BK5me1,K562:H3K27me3,IMR90:H3K27ac,CD4:H3K4ac,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000015434.1,,0.3067,0.3055,0.3201,0.26,0.16,0.31,,0.366174(N),0.292(P),1.6(T),0.0000(T),0.414,4.334587,4.1,4.1,0.448000,1.818000,2.792000,0.992000,1.000000,1.000000,13.8238
synonymous_variant,STOML1,SILENT,NM_004809.4:p.Pro261Pro/c.783G>A,ccG/ccA,LOW,,0.00798722,0,rs34353835,,,,,,chr15,74277666,74277666,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro261Pro/c.783G>A|397|STOML1|protein_coding|CODING|NM_001256672.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro211Pro/c.633G>A|348|STOML1|protein_coding|CODING|NM_001256673.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro211Pro/c.633G>A|347|STOML1|protein_coding|CODING|NM_001256674.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro261Pro/c.783G>A|327|STOML1|protein_coding|CODING|NM_001256675.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro174Pro/c.522G>A|310|STOML1|protein_coding|CODING|NM_001256676.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro219Pro/c.657G>A|355|STOML1|protein_coding|CODING|NM_001256677.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro261Pro/c.783G>A|398|STOML1|protein_coding|CODING|NM_004809.4|5|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.0031,0.0086,0.0298,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,STOML1,SILENT,NM_004809.4:p.Ala218Ala/c.654A>G,gcA/gcG,LOW,,0.686102,0.6379,rs10851866,,,,,,chr15,74277795,74277795,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala218Ala/c.654A>G|397|STOML1|protein_coding|CODING|NM_001256672.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala168Ala/c.504A>G|348|STOML1|protein_coding|CODING|NM_001256673.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala168Ala/c.504A>G|347|STOML1|protein_coding|CODING|NM_001256674.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala218Ala/c.654A>G|327|STOML1|protein_coding|CODING|NM_001256675.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala131Ala/c.393A>G|310|STOML1|protein_coding|CODING|NM_001256676.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala176Ala/c.528A>G|355|STOML1|protein_coding|CODING|NM_001256677.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala218Ala/c.654A>G|398|STOML1|protein_coding|CODING|NM_004809.4|5|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,GM06990:H3K36me3",,,,0.6288,0.598,0.6421,0.70,0.82,0.63,,,,,,,,,,,,,,,,
missense_variant,PML,MISSENSE,NM_033238.2:p.Phe645Leu/c.1933T>C,Ttc/Ctc,MODERATE,COSM3754465(2),0.192292,0.004,rs5742915,1(T),"0.0,0.001(B,B)",0(N),-0.9777(T),,chr15,74336633,74336633,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe645Leu/c.1933T>C|882|PML|protein_coding|CODING|NM_033238.2|9|1),downstream_gene_variant(MODIFIER||916||633|PML|protein_coding|CODING|NM_002675.3||1),downstream_gene_variant(MODIFIER||916||423|PML|protein_coding|CODING|NM_033246.2||1),downstream_gene_variant(MODIFIER||916||585|PML|protein_coding|CODING|NM_033249.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3","Paget_s_disease,Height",,,0.2618,0.2911,0.4384,0.34,0.11,0.46,,0.078638(U),0.943(P),1.01(T),0.0000(T),0.122,-0.094924,3.24,-3.26,0.482000,-0.543000,-0.220000,0.665000,0.047000,0.000000,5.6012
synonymous_variant,ISLR,SILENT,NM_005545.3:p.Ala199Ala/c.597C>T,gcC/gcT,LOW,,0.0567093,0,rs11854957,,,,,,chr15,74467796,74467796,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala199Ala/c.597C>T|428|ISLR|protein_coding|CODING|NM_005545.3|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala199Ala/c.597C>T|428|ISLR|protein_coding|CODING|NM_201526.1|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0317,0.0764,0.1859,0.16,0.04,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ISLR,SILENT,NM_005545.3:p.Thr219Thr/c.657G>A,acG/acA,LOW,COSM1162175(5),0.585663,0.5615,rs1052622,,,,,,chr15,74467856,74467856,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr219Thr/c.657G>A|428|ISLR|protein_coding|CODING|NM_005545.3|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr219Thr/c.657G>A|428|ISLR|protein_coding|CODING|NM_201526.1|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6472,0.7104,0.6988,0.61,0.47,0.68,,,,,,,,,,,,,,,,
missense_variant,STRA6,MISSENSE,NM_001142620.1:p.Leu152Met/c.454T>A,Ttg/Atg,MODERATE,,0.0545128,0,rs111191263,0(D),0.387(B),,-1.1023(T),,chr15,74487969,74487969,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu152Met/c.454T>A|159|STRA6|protein_coding|CODING|NM_001142620.1|6|1),intron_variant(MODIFIER|||c.430+24T>A|667|STRA6|protein_coding|CODING|NM_001142617.1|6|1),intron_variant(MODIFIER|||c.430+24T>A|667|STRA6|protein_coding|CODING|NM_001142618.1|6|1),intron_variant(MODIFIER|||c.403+24T>A|658|STRA6|protein_coding|CODING|NM_001142619.1|6|1),intron_variant(MODIFIER|||c.541+24T>A|704|STRA6|protein_coding|CODING|NM_001199040.1|6|1),intron_variant(MODIFIER|||c.475+24T>A|682|STRA6|protein_coding|CODING|NM_001199041.1|6|1),intron_variant(MODIFIER|||c.547+24T>A|706|STRA6|protein_coding|CODING|NM_001199042.1|6|1),intron_variant(MODIFIER|||c.430+24T>A|667|STRA6|protein_coding|CODING|NM_022369.3|6|1)","H1ESC:H3K36me3,K562:H3K27me3",,,,0.0337,0.0692,0.1809,0.15,0.04,0.22,,,1.000(P),-1.34(T),0.0002(T),0.087,1.472402,3.18,-2.4,-0.464000,-0.530000,0.416000,0.138000,0.000000,0.002000,4.0381
synonymous_variant,STRA6,SILENT,NM_001199042.1:p.Leu150Leu/c.448C>T,Ctg/Ttg,LOW,,0.0617013,0,rs11857410,,,,,,chr15,74488424,74488424,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu102Leu/c.304C>T|658|STRA6|protein_coding|CODING|NM_001142619.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu111Leu/c.331C>T|667|STRA6|protein_coding|CODING|NM_001142617.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu111Leu/c.331C>T|667|STRA6|protein_coding|CODING|NM_001142618.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu111Leu/c.331C>T|159|STRA6|protein_coding|CODING|NM_001142620.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu148Leu/c.442C>T|704|STRA6|protein_coding|CODING|NM_001199040.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu126Leu/c.376C>T|682|STRA6|protein_coding|CODING|NM_001199041.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu150Leu/c.448C>T|706|STRA6|protein_coding|CODING|NM_001199042.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu111Leu/c.331C>T|667|STRA6|protein_coding|CODING|NM_022369.3|5|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1",,,,0.0337,0.072,0.1809,0.16,0.07,0.21,,,,,,,,,,,,,,,,
missense_variant,CCDC33,MISSENSE,NM_025055.4:p.Ser480Asn/c.1439G>A,aGt/aAt,MODERATE,COSM434283(2),0.428115,0.3611,rs1564782,0.32(T),"0.001,0.002,0.0,0.001(B,B,B,B)",-0.145(N),-0.9293(T),,chr15,74622678,74622678,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser73Asn/c.218G>A|333|CCDC33|protein_coding|CODING|NM_001287181.1|2|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser480Asn/c.1439G>A|755|CCDC33|protein_coding|CODING|NM_025055.4|12|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser73Asn/c.218G>A|367|CCDC33|protein_coding|CODING|NM_182791.3|2|1),non_coding_exon_variant(MODIFIER|||n.267G>A||CCDC33||CODING|NR_108023.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4908,0.3919,0.665,0.57,0.33,0.69,,0.041358(N),1.000(P),"1.28,2.31,1.97,1.97(T,T,T,T)",0.0000(T),0.051,0.047652,4.62,1.52,-0.366000,0.030000,0.430000,0.017000,0.000000,0.000000,4.3065
synonymous_variant,CYP1A2,SILENT,NM_000761.4:p.Gly102Gly/c.306C>T,ggC/ggT,LOW,COSM382677(1),0.000399361,0,rs17861154,,,,,,chr15,75042385,75042385,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly102Gly/c.306C>T|516|CYP1A2|protein_coding|CODING|NM_000761.4|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0,0,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,CYP1A2,SILENT,NM_000761.4:p.Asn516Asn/c.1548C>T,aaC/aaT,LOW,,0.236222,0.1637,rs2470890,,,,,,chr15,75047426,75047426,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn516Asn/c.1548C>T|516|CYP1A2|protein_coding|CODING|NM_000761.4|7|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.1575,0.3271,0.5964,0.47,0.12,0.65,,,,,,,,,,,,,,,,
missense_variant,ULK3,MISSENSE,NM_001099436.3:p.Lys445Arg/c.1334A>G,aAg/aGg,MODERATE,,0.38738,0.3403,rs12898397,0.31(T),"0.985,0.057(D,B)",1.79(L),-0.8938(T),,chr15,75130093,75130093,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys445Arg/c.1334A>G|472|ULK3|protein_coding|CODING|NM_001099436.3|14|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys328Arg/c.983A>G|355|ULK3|protein_coding|CODING|NM_001284365.2|14|1),splice_region_variant(LOW|||c.1330A>G|470|ULK3|protein_coding|CODING|NM_001284364.2|14|1),splice_region_variant(LOW|||n.1613A>G||ULK3||CODING|NR_104308.2|13|1),splice_region_variant(LOW|||c.1334A>G|472|ULK3|protein_coding|CODING|NM_001099436.3|14|1),splice_region_variant(LOW|||c.983A>G|355|ULK3|protein_coding|CODING|NM_001284365.2|14|1),splice_region_variant(LOW|||n.1621A>G||ULK3||CODING|NR_104307.2|13|1),splice_region_variant(LOW|||n.1602A>G||ULK3||CODING|NR_104309.2|13|1),intron_variant(MODIFIER|||c.1329+5A>G|470|ULK3|protein_coding|CODING|NM_001284364.2|14|1),intron_variant(MODIFIER|||n.1612+5A>G||ULK3||CODING|NR_104308.2|13|1),non_coding_exon_variant(MODIFIER|||n.1621A>G||ULK3||CODING|NR_104307.2|13|1),non_coding_exon_variant(MODIFIER|||n.1602A>G||ULK3||CODING|NR_104309.2|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.5276,0.5432,0.5795,0.45,0.17,0.59,,,0.000(P),1.51(T),0.0000(T),0.3,2.939286,5.23,5.23,0.459000,1.978000,5.637000,0.670000,1.000000,1.000000,12.5013
synonymous_variant,ULK3,SILENT,NM_001099436.3:p.Ala302Ala/c.906T>C,gcT/gcC,LOW,COSM1129112(2),0.679313,0.7351,rs386596165,,,,,,chr15,75131661,75131661,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala302Ala/c.906T>C|472|ULK3|protein_coding|CODING|NM_001099436.3|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala302Ala/c.906T>C|470|ULK3|protein_coding|CODING|NM_001284364.2|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala185Ala/c.555T>C|355|ULK3|protein_coding|CODING|NM_001284365.2|8|1),downstream_gene_variant(MODIFIER||1322|||MIR6882||NON_CODING|NR_106942.1||1),non_coding_exon_variant(MODIFIER|||n.1193T>C||ULK3||CODING|NR_104307.2|7|1),non_coding_exon_variant(MODIFIER|||n.1193T>C||ULK3||CODING|NR_104308.2|7|1),non_coding_exon_variant(MODIFIER|||n.1193T>C||ULK3||CODING|NR_104309.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6902,0.7133,0.6909,0.69,0.63,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ULK3,SILENT,NM_001099436.3:p.Phe264Phe/c.792T>C,ttT/ttC,LOW,,0.459465,0.3383,rs936227,,,,,,chr15,75131959,75131959,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe264Phe/c.792T>C|472|ULK3|protein_coding|CODING|NM_001099436.3|7|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe264Phe/c.792T>C|470|ULK3|protein_coding|CODING|NM_001284364.2|7|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe147Phe/c.441T>C|355|ULK3|protein_coding|CODING|NM_001284365.2|7|1),downstream_gene_variant(MODIFIER||1024|||MIR6882||NON_CODING|NR_106942.1||1),non_coding_exon_variant(MODIFIER|||n.1079T>C||ULK3||CODING|NR_104307.2|6|1),non_coding_exon_variant(MODIFIER|||n.1079T>C||ULK3||CODING|NR_104308.2|6|1),non_coding_exon_variant(MODIFIER|||n.1079T>C||ULK3||CODING|NR_104309.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5358,0.5519,0.5825,0.54,0.41,0.61,,,,,,,,,,,,,,,,
synonymous_variant,MPI,SILENT,NM_002435.2:p.Val377Val/c.1131A>G,gtA/gtG,LOW,,0.338658,0.2292,rs1130741,,,,,,chr15,75189930,75189930,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val327Val/c.981A>G|373|MPI|protein_coding|CODING|NM_001289156.1|7|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val316Val/c.948A>G|362|MPI|protein_coding|CODING|NM_001289157.1|7|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val377Val/c.1131A>G|423|MPI|protein_coding|CODING|NM_002435.2|8|1),3_prime_UTR_variant(MODIFIER||58|c.*58A>G|287|MPI|protein_coding|CODING|NM_001289155.1|7|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000080011.1,,0.1697,0.5807,0.5109,0.47,0.32,0.55,,,,,,,,,,,,,,,,
missense_variant,PPCDC,MISSENSE,NM_021823.4:p.Ile78Met/c.234A>G,atA/atG,MODERATE,COSM4128401(1),0.818291,0.871,rs2304899,0.44(T),0.0(B),-1.155(N),-0.9865(T),,chr15,75336729,75336729,A,G,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile46Met/c.138A>G|172|PPCDC|protein_coding|CODING|NM_001301102.1|3|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile78Met/c.234A>G|204|PPCDC|protein_coding|CODING|NM_021823.4|4|1),splice_region_variant(LOW|||c.138A>G|172|PPCDC|protein_coding|CODING|NM_001301102.1|3|1),splice_region_variant(LOW||||81|PPCDC|protein_coding|CODING|NM_001301104.1|2|1),splice_region_variant(LOW||||81|PPCDC|protein_coding|CODING|NM_001301105.1|3|1),splice_region_variant(LOW|||c.234A>G|204|PPCDC|protein_coding|CODING|NM_021823.4|4|1),splice_region_variant(LOW|||n.171A>G||PPCDC||CODING|NR_125369.1|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||81|PPCDC|protein_coding|CODING|NM_001301104.1|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||81|PPCDC|protein_coding|CODING|NM_001301105.1|3|1),5_prime_UTR_variant(MODIFIER||4174|c.-136A>G|81|PPCDC|protein_coding|CODING|NM_001301104.1|2|1),5_prime_UTR_variant(MODIFIER||4174|c.-136A>G|81|PPCDC|protein_coding|CODING|NM_001301105.1|3|1),intron_variant(MODIFIER|||c.136-4165A>G|129|PPCDC|protein_coding|CODING|NM_001301103.1|2|1),intron_variant(MODIFIER|||c.231+852A>G|161|PPCDC|protein_coding|CODING|NM_001301101.1|3|1),non_coding_exon_variant(MODIFIER|||n.171A>G||PPCDC||CODING|NR_125369.1|3|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,HSMM:H3K27ac,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,HSMM:H3K4me1,IMR90:H3K27ac,GM12878:PolII,IMR90:H4K91ac,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.9192,0.8746,0.9493,0.84,0.63,0.95,,0.000007(N),0.000(P),0.95(T),0.0000(T),0.064,1.296088,5.44,4.53,-0.215000,0.699000,3.651000,0.594000,1.000000,1.000000,8.4965
synonymous_variant,C15orf39,SILENT,NM_015492.4:p.Ala53Ala/c.159A>G,gcA/gcG,LOW,,0.992412,1,rs1466663,,,,,,chr15,75498548,75498548,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala53Ala/c.159A>G|1047|C15orf39|protein_coding|CODING|NM_015492.4|2|1),"H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.999,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,C15orf39,MISSENSE,NM_015492.4:p.Ala119Pro/c.355G>C,Gct/Cct,MODERATE,COSM434308(1),0.0978435,0.0298,rs1873379,0.06(T),0.001(B),1.1(L),-1.0616(T),,chr15,75498744,75498744,G,C,het,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala119Pro/c.355G>C|1047|C15orf39|protein_coding|CODING|NM_015492.4|2|1),"H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.1916,0.2465,0.20,0.05,0.27,,0.118116(N),1.000(P),"-0.43,-0.43(T,T)",0.0000(T),0.082,1.200885,5.13,-1.0,0.561000,-0.145000,0.038000,0.497000,0.110000,0.004000,2.7776
synonymous_variant,C15orf39,SILENT,NM_015492.4:p.Arg405Arg/c.1213C>A,Cgg/Agg,LOW,COSM4128402(1),0.86861,0.7907,rs12591506,,,,,,chr15,75499602,75499602,C,A,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg405Arg/c.1213C>A|1047|C15orf39|protein_coding|CODING|NM_015492.4|2|1),"H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9654,0.9911,0.91,0.76,0.99,,,,,,,,,,,,,,,,
synonymous_variant,C15orf39,SILENT,NM_015492.4:p.Pro410Pro/c.1230T>C,ccT/ccC,LOW,COSM4128405(1),0.91853,0.8046,rs11072531,,,,,,chr15,75499619,75499619,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro410Pro/c.1230T>C|1047|C15orf39|protein_coding|CODING|NM_015492.4|2|1),"H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9765,0.9841,0.999,0.96,0.90,1.00,,,,,,,,,,,,,,,,
missense_variant,C15orf39,MISSENSE,NM_015492.4:p.Gly491Asp/c.1472G>A,gGc/gAc,MODERATE,COSM4128406(2),0.86861,0.7897,rs11072532,0.64(T),0.006(B),1.7(L),-0.9571(T),,chr15,75499861,75499861,G,A,hom,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly491Asp/c.1472G>A|1047|C15orf39|protein_coding|CODING|NM_015492.4|2|1),"H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9654,0.9911,0.91,0.76,0.99,,0.397062(N),1.000(P),"0.01,0.01(T,T)",0.0000(T),0.387,1.277688,3.94,-0.234,0.563000,0.175000,0.026000,0.951000,0.007000,0.000000,7.7655
missense_variant,C15orf39,MISSENSE,NM_015492.4:p.Ser536Ala/c.1606T>G,Tca/Gca,MODERATE,COSM4128409(1),0.392372,0.3264,rs28509789,0.77(T),0.001(B),0.895(L),-0.9927(T),,chr15,75499995,75499995,T,G,het,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser536Ala/c.1606T>G|1047|C15orf39|protein_coding|CODING|NM_015492.4|2|1),"H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4632,0.4078,0.2773,0.33,0.45,0.27,,0.213444(N),1.000(P),"-1.37,-1.37(T,T)",0.0000(T),0.139,-0.035507,4.84,-3.54,0.460000,-0.640000,-0.873000,0.046000,0.000000,0.000000,0.2702
missense_variant,C15orf39,MISSENSE,NM_015492.4:p.Gly945Asp/c.2834G>A,gGt/gAt,MODERATE,,0.946885,0.8036,rs3743211,1(T),0.019(B),-0.805(N),-0.9880(T),,chr15,75503147,75503147,G,A,hom,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly945Asp/c.2834G>A|1047|C15orf39|protein_coding|CODING|NM_015492.4|3|1),"H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9775,0.9856,0.999,0.99,0.97,1.00,,0.660287(N),0.000(P),"2.44,2.44(T,T)",0.0000(T),0.067,-1.826115,4.24,3.07,-0.521000,0.247000,0.204000,0.177000,0.631000,0.087000,3.4513
synonymous_variant,IMP3,SILENT,NM_018285.3:p.Ala127Ala/c.381C>A,gcC/gcA,LOW,COSM1374626(3),0.39397,0.369,rs13737,,,,,,chr15,75932129,75932129,G,T,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala127Ala/c.381C>A|184|IMP3|protein_coding|CODING|NM_018285.3|1|1),"GM12878:Cmyc,CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:H3K4me2,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,K562:Znf263,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,GM12878:Nrsf,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.3875,0.3876,0.2704,0.34,0.48,0.27,,,,,,,,,,,,,,,,
missense_variant,CSPG4,MISSENSE,NM_001897.4:p.Arg1703His/c.5108G>A,cGc/cAc,MODERATE,COSM3999602(2),0.262979,0.1885,rs8023621,0.15(T),0.001(B),1.155(L),-0.9231(T),,chr15,75970070,75970070,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1703His/c.5108G>A|2322|CSPG4|protein_coding|CODING|NM_001897.4|9|1),"GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.2638,0.3919,0.3787,0.33,0.20,0.40,,0.001133(N),0.010(P),2.09(T),0.0000(T),0.195,2.717852,4.96,3.09,0.555000,0.521000,1.492000,0.997000,0.998000,0.994000,5.5851
synonymous_variant,CSPG4,SILENT,NM_001897.4:p.Pro1304Pro/c.3912T>C,ccT/ccC,LOW,COSM434326(2),0.394369,0.2728,rs62027240,,,,,,chr15,75977920,75977920,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1304Pro/c.3912T>C|2322|CSPG4|protein_coding|CODING|NM_001897.4|4|1),"HUVEC:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4581,0.5303,0.5209,0.43,0.27,0.51,,,,,,,,,,,,,,,,
synonymous_variant,CSPG4,SILENT,NM_001897.4:p.Arg1208Arg/c.3624C>A,cgC/cgA,LOW,COSM3999603(1),0.384385,0.2292,rs8030131,,,,,,chr15,75979782,75979782,G,T,hom,synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg1208Arg/c.3624C>A|2322|CSPG4|protein_coding|CODING|NM_001897.4|3|1),"HUVEC:H3K27me3,NH-A:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.4591,0.5245,0.5189,0.46,0.30,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CSPG4,SILENT,NM_001897.4:p.Ala1098Ala/c.3294T>C,gcT/gcC,LOW,COSM3999604(1),0.441294,0.3145,rs4414463,,,,,,chr15,75980112,75980112,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1098Ala/c.3294T>C|2322|CSPG4|protein_coding|CODING|NM_001897.4|3|1),"HUVEC:H3K27me3,GM12878:BCL3,NH-A:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.4601,0.5548,0.5229,0.51,0.43,0.55,,,,,,,,,,,,,,,,
synonymous_variant,CSPG4,SILENT,NM_001897.4:p.Gly633Gly/c.1899T>C,ggT/ggC,LOW,COSM3754472(3),0.373403,0.1865,rs12900539,,,,,,chr15,75981507,75981507,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly633Gly/c.1899T>C|2322|CSPG4|protein_coding|CODING|NM_001897.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4663,0.4986,0.5179,0.45,0.29,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CSPG4,SILENT,NM_001897.4:p.Gly326Gly/c.978G>A,ggG/ggA,LOW,COSM434332(3),0.284145,0.1865,rs7182906,,,,,,chr15,75982428,75982428,C,T,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly326Gly/c.978G>A|2322|CSPG4|protein_coding|CODING|NM_001897.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2781,0.4006,0.3817,,,,,,,,,,,,,,,,,,,
missense_variant,ETFA,MISSENSE,NM_000126.3:p.Thr171Ile/c.512C>T,aCa/aTa,MODERATE,,0.0505192,0.0585,rs1801591,0(D),"0.999,1.0,1.0(D,D,D)",2.905(M),-0.2816(T),,chr15,76578762,76578762,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr171Ile/c.512C>T|333|ETFA|protein_coding|CODING|NM_000126.3|6|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr122Ile/c.365C>T|284|ETFA|protein_coding|CODING|NM_001127716.1|5|1)","CD4:H2AZ,CD4:H2BK5ac,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,RCV000078134.1|RCV000124909.1,,0.0818,0.0331,0.0885,0.06,0.02,0.09,,0.000000(D),1.000(D),-2.32(D),0.1769(T),0.497,5.049302,5.65,5.65,0.650000,2.821000,9.388000,0.907000,1.000000,1.000000,19.0723
synonymous_variant,ISL2,SILENT,NM_145805.1:p.Tyr81Tyr/c.243T>C,taT/taC,LOW,COSM4128422(3),0.689097,0.8879,rs4636879,,,,,,chr15,76630303,76630303,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr81Tyr/c.243T>C|359|ISL2|protein_coding|CODING|NM_145805.1|2|1),"H1ESC:H3K36me3,K562:Max,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HUVEC:H3K27me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K27me3,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,CD4:H4K20me1,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Cmyc,IMR90:H3K36me3,HMEC:H3K27me3,K562:E2F6,K562:H3K9ac,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.8824,0.879,0.7982,0.64,0.31,0.81,,,,,,,,,,,,,,,,
missense_variant,SCAPER,MISSENSE,NM_020843.2:p.Pro1089Thr/c.3265C>A,Ccc/Acc,MODERATE,,0.35603,0.6131,rs1607017,0.28(T),"0.007,0.023(B,B)",1.79(L),-0.9587(T),,chr15,76726465,76726465,G,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro843Thr/c.2527C>A|1154|SCAPER|protein_coding|CODING|NM_001145923.1|26|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro1089Thr/c.3265C>A|1400|SCAPER|protein_coding|CODING|NM_020843.2|25|1)","NH-A:DNase1,HSMM:DNase1,HepG2:H3K36me3",,,,0.4888,0.3372,0.327,0.25,0.13,0.31,,0.019963(N),0.352(P),"1.96,1.94(T,T)",0.0000(T),0.271,0.628737,5.93,2.97,0.655000,0.815000,0.687000,0.997000,0.998000,0.999000,5.7223
start_lost,SCAPER,MISSENSE,NM_020843.2:p.Met1?/c.1A>G,Atg/Gtg,HIGH,,0.417732,0.5774,rs3812908,0.16(T),0.828(P),,-0.8619(T),SCAPER:0.50(2);,chr15,77176158,77176158,T,C,het,start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|1400|SCAPER|protein_coding|CODING|NM_020843.2|1|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5297,0.3256,0.3101,0.30,0.32,0.29,,,0.000(P),2.03(T),0.0000(T),0.533,1.115590,3.87,3.87,0.528000,1.990000,2.645000,0.971000,0.994000,1.000000,9.3739
synonymous_variant,RCN2,SILENT,NM_001271837.1:p.Tyr329Tyr/c.987T>C,taT/taC,LOW,COSM3754478(1),0.0497204,0,rs15939,,,,,,chr15,77241542,77241542,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr329Tyr/c.987T>C|335|RCN2|protein_coding|CODING|NM_001271837.1|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr311Tyr/c.933T>C|317|RCN2|protein_coding|CODING|NM_002902.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.0706,0.1272,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN3,SILENT,NM_005724.5:p.Val201Val/c.603A>T,gtA/gtT,LOW,COSM3754479(1),0.491214,0.4028,rs11737,,,,,,chr15,77344793,77344793,T,A,het,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val137Val/c.411A>T|189|TSPAN3|protein_coding|CODING|NM_001168412.1|5|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val201Val/c.603A>T|253|TSPAN3|protein_coding|CODING|NM_005724.5|6|1),synonymous_variant(LOW|SILENT|gtA/gtT|p.Val176Val/c.528A>T|228|TSPAN3|protein_coding|CODING|NM_198902.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4826,0.5504,0.6859,0.61,0.45,0.68,,,,,,,,,,,,,,,,
missense_variant,PEAK1,MISSENSE,NM_024776.3:p.Arg1071Lys/c.3212G>A,aGg/aAg,MODERATE,COSM3754480(2),0.198083,0.1121,rs12909704,0.2(T),0.002(B),0(N),-1.0120(T),,chr15,77450964,77450964,C,T,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1071Lys/c.3212G>A|1746|PEAK1|protein_coding|CODING|NM_024776.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2157,0.2622,0.3787,0.28,0.11,0.36,,0.985190(N),1.000(P),-0.26(T),0.0000(T),0.057,1.356279,4.5,2.54,0.563000,0.978000,1.412000,0.294000,0.004000,0.005000,8.0609
synonymous_variant,LINGO1,SILENT,NM_032808.6:p.Ser368Ser/c.1104C>T,tcC/tcT,LOW,COSM1563347(3),0.519968,0.5952,rs3743481,,,,,,chr15,77907145,77907145,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301186.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301187.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301189.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301191.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301192.1|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301194.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301195.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301197.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301198.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301199.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser362Ser/c.1086C>T|614|LINGO1|protein_coding|CODING|NM_001301200.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser368Ser/c.1104C>T|620|LINGO1|protein_coding|CODING|NM_032808.6|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K27me3",,,,0.5706,0.4164,0.4056,0.42,0.51,0.37,,,,,,,,,,,,,,,,
synonymous_variant,LINGO1,SILENT,NM_032808.6:p.Leu238Leu/c.714G>C,ctG/ctC,LOW,COSM4128423(1),0.718051,0.8016,rs2271396,,,,,,chr15,77907535,77907535,C,G,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301186.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301187.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301189.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301191.1|6|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301192.1|5|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301194.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301195.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301197.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301198.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301199.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu232Leu/c.696G>C|614|LINGO1|protein_coding|CODING|NM_001301200.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu238Leu/c.714G>C|620|LINGO1|protein_coding|CODING|NM_032808.6|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K27me3",,,,0.7955,0.6556,0.6461,0.65,0.68,0.64,,,,,,,,,,,,,,,,
synonymous_variant,LINGO1,SILENT,NM_032808.6:p.Leu158Leu/c.474A>G,ctA/ctG,LOW,,0.724042,0.8304,rs2271397,,,,,,chr15,77907775,77907775,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301186.1|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301187.1|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301189.1|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301191.1|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301192.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301194.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301195.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301197.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301198.1|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301199.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu152Leu/c.456A>G|614|LINGO1|protein_coding|CODING|NM_001301200.1|4|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu158Leu/c.474A>G|620|LINGO1|protein_coding|CODING|NM_032808.6|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K27me3",,,,0.7975,0.6556,0.6461,0.65,0.69,0.64,,,,,,,,,,,,,,,,
synonymous_variant,LINGO1,SILENT,NM_032808.6:p.Ile155Ile/c.465C>T,atC/atT,LOW,,0.715655,0.7937,rs2271398,,,,,,chr15,77907784,77907784,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301186.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301187.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301189.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301191.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301192.1|5|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301194.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301195.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301197.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301198.1|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301199.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile149Ile/c.447C>T|614|LINGO1|protein_coding|CODING|NM_001301200.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile155Ile/c.465C>T|620|LINGO1|protein_coding|CODING|NM_032808.6|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K27me3",,,,0.7955,0.6527,0.6461,0.65,0.68,0.64,,,,,,,,,,,,,,,,
missense_variant,TBC1D2B,MISSENSE,NM_144572.1:p.Ala8Gly/c.23C>G,gCg/gGg,MODERATE,COSM4128424(1),0.42472,0.62,rs7176425,,"0.042,0.019(B,B)",0.345(N),-1.0058(T),,chr15,78369972,78369972,G,C,hom,"missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala8Gly/c.23C>G|914|TBC1D2B|protein_coding|CODING|NM_015079.5|1|1),missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala8Gly/c.23C>G|963|TBC1D2B|protein_coding|CODING|NM_144572.1|1|1)","K562:ZBTB7A,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,H1ESC:H3K27me3,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM06990:DNase1,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.319,0.5418,0.4791,,,,,,1.000(P),"3.03,3.03(T,T)",0.0000(T),0.208,1.471714,2.94,0.352,0.305000,-0.068000,-0.167000,0.061000,0.000000,0.000000,1.8337
missense_variant,SH2D7,MISSENSE,NM_001101404.1:p.Met137Thr/c.410T>C,aTg/aCg,MODERATE,COSM4128426(1),0.417732,0.252,rs2289524,0.99(T),0.0(B),-0.47(N),-0.9152(T),,chr15,78390414,78390414,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met137Thr/c.410T>C|451|SH2D7|protein_coding|CODING|NM_001101404.1|3|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4601,0.3415,0.4493,0.46,0.52,0.42,,,0.000(P),"1.49,1.07(T,T)",0.0000(T),0.046,0.158248,4.73,1.28,-1.338000,0.420000,0.337000,0.037000,0.971000,0.104000,4.7848
synonymous_variant,CIB2,SILENT,NM_001301224.1:p.Asp164Asp/c.492C>T,gaC/gaT,LOW,COSM3754486(1),0.127596,0.0228,rs10456,,,,,,chr15,78398146,78398146,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp116Asp/c.348C>T|144|CIB2|protein_coding|CODING|NM_001271888.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp110Asp/c.330C>T|138|CIB2|protein_coding|CODING|NM_001271889.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp164Asp/c.492C>T|192|CIB2|protein_coding|CODING|NM_001301224.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp159Asp/c.477C>T|187|CIB2|protein_coding|CODING|NM_006383.3|5|1),downstream_gene_variant(MODIFIER||1753||451|SH2D7|protein_coding|CODING|NM_001101404.1||1),non_coding_exon_variant(MODIFIER|||n.685C>T||CIB2||CODING|NR_125435.1|4|1)","H1ESC:H3K36me3,CD4:H4K91ac,CD4:H3K4me1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1687,0.1556,0.2495,0.19,0.08,0.24,,,,,,,,,,,,,,,,
synonymous_variant,IDH3A,SILENT,NM_005530.2:p.Ser8Ser/c.24T>C,tcT/tcC,LOW,COSM3749313(17),0.533546,0.3165,rs11555541,,,,,,chr15,78441769,78441769,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser8Ser/c.24T>C|366|IDH3A|protein_coding|CODING|NM_005530.2|1|1),"HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.5971,0.4524,0.505,0.57,0.69,0.51,,,,,,,,,,,,,,,,
missense_variant,ACSBG1,MISSENSE,NM_015162.4:p.Met633Val/c.1897A>G,Atg/Gtg,MODERATE,COSM3754488(1),0.526757,0.2867,rs2304824,0.63(T),0.0(B),-1.355(N),-0.9857(T),,chr15,78466127,78466127,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met629Val/c.1885A>G|720|ACSBG1|protein_coding|CODING|NM_001199377.1|13|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met633Val/c.1897A>G|724|ACSBG1|protein_coding|CODING|NM_015162.4|13|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.59,0.4409,0.498,0.56,0.69,0.50,,0.115080(N),1.000(P),"1.71,1.37(T,T)",0.0000(T),0.04,-0.484813,5.35,-0.0403,-0.186000,0.105000,-0.598000,0.853000,0.394000,0.000000,0.1445
synonymous_variant,DNAJA4,SILENT,NM_018602.3:p.Leu148Leu/c.442C>T,Cta/Tta,LOW,COSM3999609(2),0.432708,0.4306,rs386608005,,,,,,chr15,78565478,78565478,C,T,hom,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu119Leu/c.355C>T|397|DNAJA4|protein_coding|CODING|NM_001130182.1|3|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu92Leu/c.274C>T|370|DNAJA4|protein_coding|CODING|NM_001130183.1|3|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu148Leu/c.442C>T|426|DNAJA4|protein_coding|CODING|NM_018602.3|4|1)","CD4:H3K36me3,HeLa-S3:H3K36me3",,,,0.501,0.4251,0.503,0.48,0.39,0.53,,,,,,,,,,,,,,,,
synonymous_variant,WDR61,SILENT,NM_025234.1:p.Gln57Gln/c.171G>A,caG/caA,LOW,,0.0920527,0.121,rs2280364,,,,,,chr15,78585106,78585106,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln57Gln/c.171G>A|305|WDR61|protein_coding|CODING|NM_025234.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1309,0.0706,0.0865,0.09,0.07,0.10,,,,,,,,,,,,,,,,
synonymous_variant,CRABP1,SILENT,NM_004378.2:p.Leu20Leu/c.60C>G,ctC/ctG,LOW,COSM434365(5),0.532748,0.498,rs1127472,,,,,,chr15,78632830,78632830,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu20Leu/c.60C>G|137|CRABP1|protein_coding|CODING|NM_004378.2|1|1),"H1ESC:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5961,0.7104,0.6322,0.58,0.38,0.68,,,,,,,,,,,,,,,,
missense_variant,IREB2,MISSENSE,NM_004136.2:p.Val159Leu/c.475G>C,Gtt/Ctt,MODERATE,,0.977636,1,rs2958720,0.2(T),0.0(B),-0.805(N),-0.9408(T),,chr15,78758677,78758677,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val159Leu/c.475G>C|963|IREB2|protein_coding|CODING|NM_004136.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.97,0.90,1.00,,0.000811(N),1.000(P),2.37(T),0.0000(T),0.158,2.774766,6.08,6.08,-0.187000,1.603000,0.871000,0.748000,0.746000,0.039000,15.9329
missense_variant,IREB2,MISSENSE,NM_004136.2:p.Ile580Thr/c.1739T>C,aTt/aCt,MODERATE,,0.976038,1,rs2230940,1(T),0.0(B),-4.235(N),-0.9438(T),,chr15,78780104,78780104,T,C,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile580Thr/c.1739T>C|963|IREB2|protein_coding|CODING|NM_004136.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.96,0.90,1.00,,0.000000(N),0.000(P),2.45(T),0.0000(T),0.364,0.411725,4.93,4.93,-0.128000,1.084000,3.376000,0.980000,0.861000,0.996000,9.2257
synonymous_variant,IREB2,SILENT,NM_004136.2:p.Ala872Ala/c.2616C>T,gcC/gcT,LOW,,0.43111,0.4633,rs13180,,,,,,chr15,78789488,78789488,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala872Ala/c.2616C>T|963|IREB2|protein_coding|CODING|NM_004136.2|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Chronic_obstructive_pulmonary_disease,,,0.4714,0.451,0.6004,0.51,0.31,0.61,,,,,,,,,,,,,,,,
synonymous_variant,HYKK,SILENT,NM_001013619.2:p.His224His/c.672C>T,caC/caT,LOW,COSM1129104(2),0.236222,0.1528,rs12906951,,,,,,chr15,78825562,78825562,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His224His/c.672C>T|373|HYKK|protein_coding|CODING|NM_001013619.2|5|1),intron_variant(MODIFIER|||c.662-4080C>T|220|HYKK|protein_coding|CODING|NM_001083612.1|4|1)",HUVEC:H3K27me3,,,,0.3814,0.2176,0.3708,0.34,0.17,0.41,,,,,,,,,,,,,,,,
synonymous_variant,PSMA4,SILENT,NM_001102667.1:p.His240His/c.720T>C,caT/caC,LOW,,0.752396,0.8522,rs8053,,,,,,chr15,78841220,78841220,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His240His/c.720T>C|261|PSMA4|protein_coding|CODING|NM_001102667.1|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His169His/c.507T>C|190|PSMA4|protein_coding|CODING|NM_001102668.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His240His/c.720T>C|261|PSMA4|protein_coding|CODING|NM_002789.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6421,0.7781,0.6282,0.64,0.76,0.58,,,,,,,,,,,,,,,,
missense_variant,CHRNA5,MISSENSE,NM_000745.3:p.Asp398Asn/c.1192G>A,Gat/Aat,MODERATE,COSM3736134(2),0.149561,0.0268,rs16969968,0.18(T),0.011(B),1.885(L),-1.0431(T),,chr15,78882925,78882925,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp398Asn/c.1192G>A|468|CHRNA5|protein_coding|CODING|NM_000745.3|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000019049.1|RCV000033213.1,,0.182,0.2089,0.3658,0.25,0.06,0.35,,0.151590(N),0.000(P),-0.43(T),0.0000(T),0.072,1.352305,4.79,3.88,-0.229000,1.166000,6.622000,0.027000,0.042000,1.000000,10.8638
synonymous_variant,CHRNA3,SILENT,NM_000743.4:p.Tyr215Tyr/c.645C>T,taC/taT,LOW,COSM3754495(1),0.168131,0.0268,rs1051730,,,,,,chr15,78894339,78894339,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr215Tyr/c.645C>T|505|CHRNA3|protein_coding|CODING|NM_000743.4|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr215Tyr/c.645C>T|489|CHRNA3|protein_coding|CODING|NM_001166694.1|5|1),non_coding_exon_variant(MODIFIER|||n.1146C>T||CHRNA3||CODING|NR_046313.1|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,GM06990:H3K36me3","Smoking_behavior,Smoking_behavior,Smoking_behavior,Lung_adenocarcinoma,Lung_cancer,Nicotine_dependence",RCV000019055.1|RCV000033204.1,,0.183,0.2161,0.3688,0.27,0.12,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA3,SILENT,NM_000743.4:p.Lys97Lys/c.291A>G,aaA/aaG,LOW,,0.634984,0.5536,rs3743075,,,,,,chr15,78909452,78909452,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys97Lys/c.291A>G|505|CHRNA3|protein_coding|CODING|NM_000743.4|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys97Lys/c.291A>G|489|CHRNA3|protein_coding|CODING|NM_001166694.1|4|1),non_coding_exon_variant(MODIFIER|||n.792A>G||CHRNA3||CODING|NR_046313.1|4|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6585,0.804,0.659,0.60,0.55,0.63,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA3,SILENT,NM_000743.4:p.Val53Val/c.159A>G,gtA/gtG,LOW,COSM4128431(1),0.328474,0.3542,rs8040868,,,,,,chr15,78911181,78911181,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val53Val/c.159A>G|505|CHRNA3|protein_coding|CODING|NM_000743.4|2|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val53Val/c.159A>G|489|CHRNA3|protein_coding|CODING|NM_001166694.1|2|1),non_coding_exon_variant(MODIFIER|||n.660A>G||CHRNA3||CODING|NR_046313.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,NH-A:H3K27me3,HeLa-S3:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,GM06990:DNase1,K562:DNase1","Pulmonary_function_interaction,Pulmonary_function_interaction,Obesity_related_traits",,,0.2127,0.2795,0.4165,0.39,0.34,0.41,,,,,,,,,,,,,,,,
synonymous_variant,CHRNB4,SILENT,NM_001256567.1:p.Ala198Ala/c.594T>C,gcT/gcC,LOW,,0.694888,0.5188,rs1948,,,,,,chr15,78917399,78917399,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala198Ala/c.594T>C|231|CHRNB4|protein_coding|CODING|NM_001256567.1|5|1),3_prime_UTR_variant(MODIFIER||76|c.*76T>C|498|CHRNB4|protein_coding|CODING|NM_000750.3|6|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6667,0.8458,0.6809,,,,,,,,,,,,,,,,,,,
missense_variant,ADAMTS7,MISSENSE,NM_014272.3:p.Gly1583Ala/c.4748G>C,gGc/gCc,MODERATE,COSM4128432(2),0.666534,0.5913,rs7495616,1(T),0.002(B),-2.095(N),-0.9256(T),,chr15,79054900,79054900,C,G,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly1583Ala/c.4748G>C|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|23|1),"H1ESC:H3K36me3,CD4:H4K91ac,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.59,0.6671,0.7515,0.73,0.75,0.72,,0.000156(N),0.984(P),0.31(T),0.0000(T),0.076,-0.174983,4.59,4.59,-0.367000,0.917000,3.474000,0.784000,0.998000,0.996000,13.5445
synonymous_variant,ADAMTS7,SILENT,NM_014272.3:p.Arg1227Arg/c.3681A>C,cgA/cgC,LOW,,0.929313,0.9851,rs1809421,,,,,,chr15,79058572,79058572,T,G,hom,synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg1227Arg/c.3681A>C|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|19|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.953,0.8977,0.9473,0.93,0.90,0.95,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS7,SILENT,NM_014272.3:p.Pro1110Pro/c.3330C>T,ccC/ccT,LOW,COSM4128434(1),0.947684,0.9177,rs1809422,,,,,,chr15,79058923,79058923,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1110Pro/c.3330C>T|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|19|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.9775,0.9496,0.9791,0.98,0.94,0.99,,,,,,,,,,,,,,,,
missense_variant,ADAMTS7,MISSENSE,NM_014272.3:p.His1101Arg/c.3302A>G,cAt/cGt,MODERATE,,0.271765,0.1042,rs28699256,0.59(T),0.0(B),-0.805(N),-0.9751(T),,chr15,79058951,79058951,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1101Arg/c.3302A>G|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|19|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.3129,0.3256,0.4483,0.37,0.23,0.44,,0.026553(N),1.000(P),1.03(T),0.0000(T),0.021,-1.919274,2.22,-2.73,-1.569000,-0.686000,-2.791000,0.001000,0.000000,0.000000,4.1049
synonymous_variant,ADAMTS7,SILENT,NM_014272.3:p.Ser741Ser/c.2223C>T,agC/agT,LOW,,0.186102,0.0188,rs11635931,,,,,,chr15,79064080,79064080,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser741Ser/c.2223C>T|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2587,0.2579,0.4185,0.32,0.11,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS7,SILENT,NM_014272.3:p.Ala720Ala/c.2160G>C,gcG/gcC,LOW,,0.186102,0.0188,rs11635870,,,,,,chr15,79064143,79064143,C,G,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala720Ala/c.2160G>C|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2587,0.2579,0.4185,0.32,0.11,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS7,SILENT,NM_014272.3:p.Ala510Ala/c.1530T>C,gcT/gcC,LOW,,0.253395,0.1399,rs11854507,,,,,,chr15,79069121,79069121,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala510Ala/c.1530T>C|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|10|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.273,0.268,0.4006,0.33,0.23,0.38,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS7,SILENT,NM_014272.3:p.Val248Val/c.744A>G,gtA/gtG,LOW,,0.792532,0.8631,rs3743057,,,,,,chr15,79089007,79089007,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val248Val/c.744A>G|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,K562:Nrsf",,,,0.7372,0.8948,0.7565,0.75,0.73,0.75,,,,,,,,,,,,,,,,
missense_variant,ADAMTS7,MISSENSE,NM_014272.3:p.Ser214Pro/c.640T>C,Tct/Cct,MODERATE,COSM3754498(1),0.2502,0.1518,rs3825807,0.28(T),"0.001,0.0,0.001(B,B,B)",-1.5(N),-0.9566(T),,chr15,79089111,79089111,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser214Pro/c.640T>C|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,K562:Nrsf","Coronary_artery_calcification,Coronary_heart_disease",,,0.3241,0.2968,0.4274,0.35,0.15,0.44,,0.936716(N),1.000(P),0.15(T),0.0000(T),0.035,1.968180,5.11,-8.98,-1.382000,-1.596000,-1.471000,0.354000,0.000000,0.000000,2.7518
synonymous_variant,ADAMTS7,SILENT,NM_014272.3:p.Ala80Ala/c.240C>G,gcC/gcG,LOW,COSM3754499(5),0.248602,0.1518,rs7173267,,,,,,chr15,79092750,79092750,G,C,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala80Ala/c.240C>G|1686|ADAMTS7|protein_coding|CODING|NM_014272.3|2|1),"HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.3241,0.2968,0.4284,0.33,0.14,0.42,,,,,,,,,,,,,,,,
synonymous_variant,CTSH,SILENT,NM_004390.3:p.Thr264Thr/c.792C>G,acC/acG,LOW,,0.999601,1,rs2044226,,,,,,chr15,79217690,79217690,G,C,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr264Thr/c.792C>G|335|CTSH|protein_coding|CODING|NM_004390.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CTSH,MISSENSE,NM_004390.3:p.Cys26Ser/c.77G>C,tGc/tCc,MODERATE,COSM4128437(1),0.38738,0.0952,rs1036938,0.9(T),"0.0,0.0(B,B)",0(N),-0.9548(T),,chr15,79237247,79237247,C,G,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys26Ser/c.77G>C|335|CTSH|protein_coding|CODING|NM_004390.3|1|1),"K562:ZBTB7A,K562:Max,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,K562:H3K9ac,NHEK:H3K27me3,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6002,0.4179,0.6839,0.58,0.31,0.72,,0.000297(N),1.000(P),-0.49(T),0.0000(T),0.034,0.741161,3.12,2.16,-0.322000,0.317000,0.797000,0.001000,0.000000,0.004000,5.6349
missense_variant,CTSH,MISSENSE,NM_004390.3:p.Gly11Arg/c.31G>A,Ggg/Agg,MODERATE,,0.076877,0.0714,rs2289702,0.09(T),,0.55(N),-0.8008(T),,chr15,79237293,79237293,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly11Arg/c.31G>A|335|CTSH|protein_coding|CODING|NM_004390.3|1|1),"K562:ZBTB7A,K562:Max,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,K562:H3K9ac,NHEK:H3K27me3,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1534,0.0533,0.1054,0.07,0.03,0.09,,,0.998(P),,0.0127(T),.,0.610990,3.12,3.12,0.491000,2.040000,0.281000,0.004000,0.483000,0.001000,9.9555
synonymous_variant,RASGRF1,SILENT,NM_002891.4:p.Asn1100Asn/c.3300T>C,aaT/aaC,LOW,COSM3754500(2),0.281749,0.1865,rs2230518,,,,,,chr15,79277511,79277511,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1084Asn/c.3252T>C|1257|RASGRF1|protein_coding|CODING|NM_001145648.1|23|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1100Asn/c.3300T>C|1273|RASGRF1|protein_coding|CODING|NM_002891.4|24|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn316Asn/c.948T>C|489|RASGRF1|protein_coding|CODING|NM_153815.2|10|1)","GM12878:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3",,,,0.2055,0.1945,0.2644,0.31,0.41,0.27,,,,,,,,,,,,,,,,
synonymous_variant,RASGRF1,SILENT,NM_002891.4:p.Pro823Pro/c.2469C>T,ccC/ccT,LOW,,0.125,0.0942,rs1562008,,,,,,chr15,79296172,79296172,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro807Pro/c.2421C>T|1257|RASGRF1|protein_coding|CODING|NM_001145648.1|15|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro823Pro/c.2469C>T|1273|RASGRF1|protein_coding|CODING|NM_002891.4|16|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro39Pro/c.117C>T|489|RASGRF1|protein_coding|CODING|NM_153815.2|2|1)","IMR90:H2BK120ac,HSMM:H3K27ac,IMR90:H3K4me1,HMEC:H3K4me1",,,,0.1575,0.1556,0.2316,0.18,0.06,0.24,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD34C,SILENT,NM_001146341.1:p.Pro245Pro/c.735T>C,ccT/ccC,LOW,COSM4128441(2),0.683706,0.7649,rs8038778,,,,,,chr15,79586361,79586361,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro245Pro/c.735T>C|535|ANKRD34C|protein_coding|CODING|NM_001146341.1|2|1),"GM12878:H3K27me3,HepG2:H3K27me3",,,,0.6125,0.7233,0.6531,,,,,,,,,,,,,,,,,,,
synonymous_variant,TMED3,SILENT,NM_007364.3:p.Val69Val/c.207G>A,gtG/gtA,LOW,,0.980232,0.9821,rs3825933,,,,,,chr15,79606137,79606137,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val69Val/c.207G>A|155|TMED3|protein_coding|CODING|NM_001301203.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val69Val/c.207G>A|217|TMED3|protein_coding|CODING|NM_007364.3|2|1),non_coding_exon_variant(MODIFIER|||n.395G>A||TMED3||CODING|NR_125394.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9856,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TMED3,SILENT,NM_007364.3:p.Ala172Ala/c.516A>G,gcA/gcG,LOW,,0.977636,1,rs906439,,,,,,chr15,79614418,79614418,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala172Ala/c.516A>G|217|TMED3|protein_coding|CODING|NM_007364.3|3|1),intron_variant(MODIFIER|||c.417+8071A>G|155|TMED3|protein_coding|CODING|NM_001301203.1|2|1),non_coding_exon_variant(MODIFIER|||n.819A>G||TMED3||CODING|NR_125394.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1024,SILENT,NM_015206.2:p.Gly546Gly/c.1638A>G,ggA/ggG,LOW,COSM434389(3),0.314696,0.5704,rs2902954,,,,,,chr15,79750127,79750127,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly546Gly/c.1638A>G|916|KIAA1024|protein_coding|CODING|NM_015206.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2955,0.304,0.3698,0.27,0.13,0.33,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1024,SILENT,NM_015206.2:p.Ile606Ile/c.1818T>C,atT/atC,LOW,,0.954673,0.9792,rs1004724,,,,,,chr15,79750307,79750307,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile606Ile/c.1818T>C|916|KIAA1024|protein_coding|CODING|NM_015206.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.9121,0.9539,0.9155,0.92,0.98,0.89,,,,,,,,,,,,,,,,
missense_variant,ST20,MISSENSE,NM_001100879.1:p.Pro57Leu/c.170C>T,cCa/cTa,MODERATE,COSM3999612(2),0.419129,0.3085,rs7257,1(T),0.002(B),,-0.9295(T),,chr15,80191343,80191343,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro57Leu/c.170C>T|79|ST20|protein_coding|CODING|NM_001100879.1|3|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro57Leu/c.170C>T|79|ST20|protein_coding|CODING|NM_001100880.2|3|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro57Leu/c.170C>T|79|ST20|protein_coding|CODING|NM_001199757.1|3|1),upstream_gene_variant(MODIFIER||1952||203|MTHFS|protein_coding|CODING|NM_006441.3||1),upstream_gene_variant(MODIFIER||1716||146|MTHFS|protein_coding|CODING|NM_001199758.1||1),intron_variant(MODIFIER|||c.45+8628C>T|179|ST20-MTHFS|protein_coding|CODING|NM_001199760.1|2|1),non_coding_exon_variant(MODIFIER|||n.484C>T||ST20||CODING|NR_037652.1|3|1),non_coding_exon_variant(MODIFIER|||n.506C>T||ST20||CODING|NR_037653.1|3|1)","HeLa-S3:DNase1,CD4:DNase1,IMR90:DNase1,HSMM:DNase1,HepG2:FOXA2,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5624,0.4035,0.5179,0.49,0.35,0.56,,,1.000(P),,0.0000(T),0.075,1.611857,1.53,-0.622,0.205000,-0.178000,-0.851000,0.730000,0.000000,0.000000,2.7749
synonymous_variant,BCL2A1,SILENT,NM_001114735.1:p.Thr147Thr/c.441A>G,acA/acG,LOW,COSM3999614(1),0.389377,0.5288,rs8026803,,,,,,chr15,80260014,80260014,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr147Thr/c.441A>G|163|BCL2A1|protein_coding|CODING|NM_001114735.1|2|1),intron_variant(MODIFIER|||c.420+3028A>G|175|BCL2A1|protein_coding|CODING|NM_004049.3|1|1)","GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K79me2,GM06990:H3K4me3,GM12878:H3K9ac,GM12878:H3K4me2",,,,0.4407,0.2925,0.2584,0.29,0.37,0.26,,,,,,,,,,,,,,,,
missense_variant,BCL2A1,MISSENSE,NM_004049.3:p.Gly82Asp/c.245G>A,gGc/gAc,MODERATE,COSM3999615(2),0.203474,0.2063,rs3826007,0.01(D),"1.0,1.0(D,D)",2.875(M),-0.9620(T),,chr15,80263217,80263217,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly82Asp/c.245G>A|163|BCL2A1|protein_coding|CODING|NM_001114735.1|1|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly82Asp/c.245G>A|175|BCL2A1|protein_coding|CODING|NM_004049.3|1|1)","CD4:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,CD4:H4K8ac,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,NH-A:DNase1,CD4:H3K23ac,CD4:H3K36ac,GM12878:PolII,CD4:H4K5ac,CD4:H3K4ac,CD4:H3K4me2,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1",,,,0.3589,0.1599,0.2545,0.20,0.09,0.25,,0.212436(N),0.000(P),"0.58,0.58(T,T)",0.0002(T),0.312,3.062546,5.63,5.63,0.655000,2.652000,4.115000,0.019000,0.824000,1.000000,17.8901
missense_variant,BCL2A1,MISSENSE,NM_004049.3:p.Asn39Lys/c.117T>G,aaT/aaG,MODERATE,COSM3999617(2),0.458866,0.5367,rs1138358,0.78(T),"0.016,0.004(B,B)",0.41(N),-0.9199(T),,chr15,80263345,80263345,A,C,het,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn39Lys/c.117T>G|163|BCL2A1|protein_coding|CODING|NM_001114735.1|1|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn39Lys/c.117T>G|175|BCL2A1|protein_coding|CODING|NM_004049.3|1|1)","CD4:H3K9me1,CD4:H2AZ,CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,CD4:H4K8ac,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,GM06990:H3K4me3,HSMM:DNase1,NH-A:DNase1,CD4:H3K23ac,CD4:H3K36ac,GM12878:PolII,CD4:H4K5ac,CD4:H3K4ac,CD4:H3K4me2,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:Max,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,K562:DNase1",,,,0.4427,0.3127,0.2624,0.36,0.56,0.26,,0.885950(N),1.000(P),"2.39,2.39(T,T)",0.0000(T),0.007,0.027388,5.63,-10.2,-1.967000,-1.753000,-3.817000,0.000000,0.000000,0.000000,1.5289
missense_variant,BCL2A1,MISSENSE,NM_004049.3:p.Cys19Tyr/c.56G>A,tGc/tAc,MODERATE,COSM3999619(1),0.352037,0.5367,rs1138357,1(T),"0.0,0.0(B,B)",-1.67(N),-0.9190(T),,chr15,80263406,80263406,C,T,het,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys19Tyr/c.56G>A|163|BCL2A1|protein_coding|CODING|NM_001114735.1|1|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys19Tyr/c.56G>A|175|BCL2A1|protein_coding|CODING|NM_004049.3|1|1)","CD4:H3K9me1,CD4:H2AZ,CD4:H3K18ac,GM12878:Pax5,CD4:H2BK5ac,GM12878:BCL3,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,CD4:H2BK20ac,CD4:H4K8ac,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,GM06990:H3K4me3,HSMM:DNase1,NH-A:DNase1,CD4:H3K23ac,GM12878:Pbx3,CD4:H3K36ac,GM12878:PolII,CD4:H4K5ac,CD4:H3K4ac,CD4:PolII,CD4:H3K4me2,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:Max,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.4417,0.2767,0.2565,0.25,0.24,0.26,,0.835026(N),1.000(P),"2.33,2.33(T,T)",0.0000(T),0.03,-1.282248,5.63,1.93,-1.170000,-0.156000,1.334000,0.002000,0.000000,0.007000,4.1144
missense_variant,FAH,MISSENSE,NM_000137.2:p.Arg341Trp/c.1021C>T,Cgg/Tgg,MODERATE,COSM3754501(1),0.00798722,0,rs11555096,0(D),0.972(D),3.51(H),0.7893(D),,chr15,80472526,80472526,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg341Trp/c.1021C>T|419|FAH|protein_coding|CODING|NM_000137.2|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000012643.1|RCV000020125.2,,0.0082,0.0144,0.0189,0.02,0.00,0.02,,0.000446(D),1.000(A),"-3.61,-3.61,-3.61(D,D,D)",0.8544(D),0.794,2.203171,4.48,3.53,0.491000,1.025000,1.276000,0.181000,0.390000,0.628000,11.0131
missense_variant,ARNT2,MISSENSE,NM_014862.3:p.Gly679Ser/c.2035G>A,Ggt/Agt,MODERATE,,0.112021,0.003,rs4072568,0.64(T),0.002(B),-0.69(N),-0.9151(T),,chr15,80884025,80884025,G,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly679Ser/c.2035G>A|717|ARNT2|protein_coding|CODING|NM_014862.3|18|1),"GM06990:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:Nrsf,H1ESC:Nrsf,K562:Nrsf",,,,0.138,0.1066,0.166,0.18,0.14,0.20,,0.001420(N),0.791(P),3.76(T),0.0000(T),0.076,1.462974,5.07,1.74,0.313000,0.533000,2.649000,0.991000,0.976000,1.000000,6.8547
synonymous_variant,ABHD17C,SILENT,NM_021214.1:p.Gly14Gly/c.42T>C,ggT/ggC,LOW,COSM3754502(5),0.977436,1,rs62007944,,,,,,chr15,80987812,80987812,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly14Gly/c.42T>C|329|ABHD17C|protein_coding|CODING|NM_021214.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,1,0.9942,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CEMIP,SILENT,NM_001293298.1:p.Cys628Cys/c.1884T>C,tgT/tgC,LOW,COSM147959(3),0.176717,0.2669,rs2271160,,,,,,chr15,81212521,81212521,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys628Cys/c.1884T>C|1361|CEMIP|protein_coding|CODING|NM_001293298.1|15|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys628Cys/c.1884T>C|1361|CEMIP|protein_coding|CODING|NM_001293304.1|15|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys628Cys/c.1884T>C|1361|CEMIP|protein_coding|CODING|NM_018689.2|14|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2065,0.1354,0.1342,0.14,0.14,0.14,,,,,,,,,,,,,,,,
synonymous_variant,CEMIP,SILENT,NM_001293298.1:p.Pro657Pro/c.1971G>A,ccG/ccA,LOW,,0.988419,1,rs1553647,,,,,,chr15,81212608,81212608,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro657Pro/c.1971G>A|1361|CEMIP|protein_coding|CODING|NM_001293298.1|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro657Pro/c.1971G>A|1361|CEMIP|protein_coding|CODING|NM_001293304.1|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro657Pro/c.1971G>A|1361|CEMIP|protein_coding|CODING|NM_018689.2|14|1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9942,0.998,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,IL16,MISSENSE,NM_172217.3:p.Pro434Ser/c.1300C>T,Ccc/Tcc,MODERATE,COSM147960(1),0.164537,0.2083,rs386590430,0.83(T),"0.468,0.668(P,P)",-0.835(N),-1.0006(T),,chr15,81578139,81578139,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro434Ser/c.1300C>T|1331|IL16|protein_coding|CODING|NM_001172128.1|10|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro434Ser/c.1300C>T|1332|IL16|protein_coding|CODING|NM_172217.3|9|1)","HUVEC:H3K27me3,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,CD4:H3K4me1,HeLa-S3:H3K27me3,GM12878:H3K4me1,CD4:H2BK120ac,HepG2:H3K27me3",,,,0.3303,0.1888,0.1024,0.09,0.05,0.11,,0.000386(D),0.000(P),"2.4,2.4(T,T)",0.0000(T),0.266,2.082011,5.23,5.23,0.655000,2.717000,3.714000,0.713000,0.997000,1.000000,13.8975
synonymous_variant,IL16,SILENT,NM_172217.3:p.Gln469Gln/c.1407G>A,caG/caA,LOW,COSM4128449(1),0.585463,0.5407,rs8031107,,,,,,chr15,81582868,81582868,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln469Gln/c.1407G>A|1331|IL16|protein_coding|CODING|NM_001172128.1|11|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln469Gln/c.1407G>A|1332|IL16|protein_coding|CODING|NM_172217.3|10|1)","NH-A:H3K27me3,IMR90:H3K36me3",,,,0.637,0.4222,0.4801,0.52,0.68,0.45,,,,,,,,,,,,,,,,
synonymous_variant,IL16,SILENT,NM_172217.3:p.His483His/c.1449C>T,caC/caT,LOW,COSM1374906(1),0.167133,0.1885,rs61752774,,,,,,chr15,81584925,81584925,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His483His/c.1449C>T|1331|IL16|protein_coding|CODING|NM_001172128.1|12|1),synonymous_variant(LOW|SILENT|caC/caT|p.His483His/c.1449C>T|1332|IL16|protein_coding|CODING|NM_172217.3|11|1)","CD4:H3K18ac,HUVEC:H3K27me3,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,CD4:H4K8ac,CD4:H3K27ac,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:EBF,GM12878:Pbx3,NHEK:H3K27me3,CD4:H3K4me1,GM12878:PolII,CD4:H4K5ac,CD4:H3K4ac,GM12878:H3K4me1,GM12878:H3K9ac,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.3313,0.1931,0.0994,0.09,0.07,0.10,,,,,,,,,,,,,,,,
synonymous_variant,IL16,SILENT,NM_172217.3:p.Leu1285Leu/c.3855A>G,ttA/ttG,LOW,,0.992812,0.9683,rs4238526,,,,,,chr15,81600995,81600995,A,G,hom,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1284Leu/c.3852A>G|1331|IL16|protein_coding|CODING|NM_001172128.1|19|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu584Leu/c.1752A>G|631|IL16|protein_coding|CODING|NM_004513.5|7|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1285Leu/c.3855A>G|1332|IL16|protein_coding|CODING|NM_172217.3|18|1)","GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,TMC3,MISSENSE,NM_001080532.1:p.Asp1099Asn/c.3295G>A,Gat/Aat,MODERATE,COSM434408(1),0.751997,0.7192,rs4417518,1(T),0.0(B),-1.1(N),-0.9799(T),,chr15,81624768,81624768,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp1099Asn/c.3295G>A|1100|TMC3|protein_coding|CODING|NM_001080532.1|22|1),non_coding_exon_variant(MODIFIER|||n.312C>T||LOC101929655||NON_CODING|NR_120365.1|2|1)","K562:H3K4me3,HUVEC:H3K27me3,IMR90:H3K36me3,HeLa-S3:H3K27me3",,,,0.5204,0.7075,0.8529,0.87,0.89,0.86,,0.002268(N),1.000(P),0.51(T),0.0000(T),0.016,-1.543358,5.31,0.3,-0.254000,-0.510000,1.601000,0.007000,0.000000,1.000000,5.7386
missense_variant,TMC3,MISSENSE,NM_001080532.1:p.Cys893Tyr/c.2678G>A,tGt/tAt,MODERATE,,0.471046,0.4782,rs11636318,0.03(D),0.0(B),0(N),-0.9433(T),,chr15,81625385,81625385,C,T,hom,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys893Tyr/c.2678G>A|1100|TMC3|protein_coding|CODING|NM_001080532.1|22|1),intron_variant(MODIFIER|||n.426+503C>T||LOC101929655||NON_CODING|NR_120365.1|2|1)","IMR90:H3K36me3,HeLa-S3:H3K27me3",,,,0.409,0.5951,0.7584,0.62,0.31,0.77,,0.722251(U),1.000(P),-0.0(T),0.0000(T),0.075,1.190567,5.42,-1.28,-1.127000,-0.264000,0.726000,0.000000,0.000000,0.038000,10.804
synonymous_variant,TMC3,SILENT,NM_001080532.1:p.Glu546Glu/c.1638G>A,gaG/gaA,LOW,,0.752995,0.7232,rs386607984,,,,,,chr15,81636267,81636267,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu546Glu/c.1638G>A|1100|TMC3|protein_coding|CODING|NM_001080532.1|14|1),intron_variant(MODIFIER|||n.573+2218C>T||LOC101929655||NON_CODING|NR_120365.1|3|1)",NHEK:H3K27me3,,,,0.5194,0.7075,0.8479,0.87,0.89,0.86,,,,,,,,,,,,,,,,
synonymous_variant,TMC3,SILENT,NM_001080532.1:p.Ala447Ala/c.1341C>T,gcC/gcT,LOW,,0.464657,0.4504,rs4278705,,,,,,chr15,81637284,81637284,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala447Ala/c.1341C>T|1100|TMC3|protein_coding|CODING|NM_001080532.1|13|1),intron_variant(MODIFIER|||n.573+3235G>A||LOC101929655||NON_CODING|NR_120365.1|3|1)",,,,,0.3957,0.6023,0.7396,0.62,0.33,0.76,,,,,,,,,,,,,,,,
missense_variant,EFTUD1,MISSENSE,NM_024580.5:p.Ala991Thr/c.2971G>A,Gcc/Acc,MODERATE,COSM328356(1),0.0571086,0.005,rs78664413,0.22(T),"0.263,0.39(B,B)",1.1(L),-1.2016(T),,chr15,82443824,82443824,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala940Thr/c.2818G>A|1069|EFTUD1|protein_coding|CODING|NM_001040610.2|16|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala991Thr/c.2971G>A|1120|EFTUD1|protein_coding|CODING|NM_024580.5|18|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0793,0.0328,0.06,0.12,0.04,,0.000334(D),0.000(P),"0.02,0.02(T,T)",0.0006(T),0.178,3.715333,6.16,6.16,0.650000,2.937000,4.810000,0.745000,1.000000,1.000000,20.8598
synonymous_variant,EFTUD1,SILENT,NM_024580.5:p.Asp952Asp/c.2856C>T,gaC/gaT,LOW,COSM3754504(2),0.329273,0.249,rs4725,,,,,,chr15,82443939,82443939,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp901Asp/c.2703C>T|1069|EFTUD1|protein_coding|CODING|NM_001040610.2|16|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp952Asp/c.2856C>T|1120|EFTUD1|protein_coding|CODING|NM_024580.5|18|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.2161,0.329,0.38,0.52,0.31,,,,,,,,,,,,,,,,
synonymous_variant,EFTUD1,SILENT,NM_024580.5:p.Gly786Gly/c.2358T>C,ggT/ggC,LOW,,0.785543,0.8353,rs905450,,,,,,chr15,82444437,82444437,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly735Gly/c.2205T>C|1069|EFTUD1|protein_coding|CODING|NM_001040610.2|16|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly786Gly/c.2358T>C|1120|EFTUD1|protein_coding|CODING|NM_024580.5|18|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5941,0.853,0.7624,0.81,0.85,0.79,,,,,,,,,,,,,,,,
missense_variant,EFTUD1,MISSENSE,NM_024580.5:p.Glu478Asp/c.1434G>C,gaG/gaC,MODERATE,,0.778954,0.8532,rs2292189,0.63(T),"0.005,0.002(B,B)",1.01(L),-1.0098(T),,chr15,82512429,82512429,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu427Asp/c.1281G>C|1069|EFTUD1|protein_coding|CODING|NM_001040610.2|11|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu478Asp/c.1434G>C|1120|EFTUD1|protein_coding|CODING|NM_024580.5|13|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.5736,0.6888,0.7406,,,,,0.754971(N),1.000(P),"-0.11,0.15(T,T)",0.0000(T),0.05,-0.451289,4.07,-8.14,-3.137000,-2.374000,-0.929000,0.000000,0.000000,0.006000,1.5018
missense_variant,FAM154B,MISSENSE,NM_001008226.1:p.Pro34Leu/c.101C>T,cCa/cTa,MODERATE,,0.373802,0.1994,rs16973457,0.3(T),"0.704,0.652(P,P)",1.935(M),-0.9067(T),,chr15,82563991,82563991,C,T,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro34Leu/c.101C>T|398|FAM154B|protein_coding|CODING|NM_001008226.1|2|1),HepG2:H3K27me3,,,,0.4918,0.317,0.5497,0.46,0.36,0.52,,0.006323(N),0.000(P),"2.01,2.01(T,T)",0.0000(T),0.274,2.687880,4.98,3.93,0.591000,2.481000,3.564000,0.943000,0.950000,1.000000,7.2589
synonymous_variant,CPEB1,SILENT,NM_030594.4:p.Leu505Leu/c.1515A>G,ctA/ctG,LOW,COSM3754506(1),0.441494,0.4663,rs1267657,,,,,,chr15,83215251,83215251,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu435Leu/c.1305A>G|491|CPEB1|protein_coding|CODING|NM_001079533.1|10|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu430Leu/c.1290A>G|486|CPEB1|protein_coding|CODING|NM_001079534.1|10|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu430Leu/c.1290A>G|486|CPEB1|protein_coding|CODING|NM_001079535.1|9|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu430Leu/c.1290A>G|486|CPEB1|protein_coding|CODING|NM_001288819.1|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu279Leu/c.837A>G|335|CPEB1|protein_coding|CODING|NM_001288820.1|9|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu505Leu/c.1515A>G|561|CPEB1|protein_coding|CODING|NM_030594.4|11|1)","HUVEC:H3K27me3,K562:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4785,0.3905,0.4155,0.39,0.41,0.37,,,,,,,,,,,,,,,,
synonymous_variant,CPEB1,SILENT,NM_030594.4:p.Pro261Pro/c.783G>A,ccG/ccA,LOW,,1,1,rs1145171,,,,,,chr15,83224696,83224696,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro186Pro/c.558G>A|491|CPEB1|protein_coding|CODING|NM_001079533.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro186Pro/c.558G>A|486|CPEB1|protein_coding|CODING|NM_001079534.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro186Pro/c.558G>A|486|CPEB1|protein_coding|CODING|NM_001079535.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro186Pro/c.558G>A|486|CPEB1|protein_coding|CODING|NM_001288819.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro35Pro/c.105G>A|335|CPEB1|protein_coding|CODING|NM_001288820.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro261Pro/c.783G>A|561|CPEB1|protein_coding|CODING|NM_030594.4|5|1)","HUVEC:H3K27me3,K562:H3K36me3,HeLa-S3:H3K27me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,FSD2,SILENT,NM_001007122.3:p.His719His/c.2157C>T,caC/caT,LOW,COSM3754510(1),0.182308,0.2629,rs1108135,,,,,,chr15,83428193,83428193,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His719His/c.2157C>T|749|FSD2|protein_coding|CODING|NM_001007122.3|13|1),synonymous_variant(LOW|SILENT|caC/caT|p.His674His/c.2022C>T|704|FSD2|protein_coding|CODING|NM_001281805.1|13|1),synonymous_variant(LOW|SILENT|caC/caT|p.His674His/c.2022C>T|704|FSD2|protein_coding|CODING|NM_001281806.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0613,0.196,0.1213,0.13,0.19,0.10,,,,,,,,,,,,,,,,
missense_variant,WHAMM,MISSENSE,NM_001080435.2:p.Asn212Ser/c.635A>G,aAc/aGc,MODERATE,COSM3754512(1),0.10603,0,rs35270670,0.14(T),0.229(B),1.79(L),-0.9110(T),,chr15,83481880,83481880,A,G,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn212Ser/c.635A>G|809|WHAMM|protein_coding|CODING|NM_001080435.2|2|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1104,0.1225,0.2346,0.19,0.11,0.23,,0.000135(D),0.780(P),3.21(T),0.0000(T),0.039,1.922534,4.42,3.3,0.533000,0.754000,3.869000,0.645000,0.991000,1.000000,8.7226
missense_variant,WHAMM,MISSENSE,NM_001080435.2:p.His736Pro/c.2207A>C,cAc/cCc,MODERATE,,0.135383,0.1944,rs11259953,0.33(T),0.058(B),0.895(L),-1.0195(T),,chr15,83502065,83502065,A,C,het,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His736Pro/c.2207A>C|809|WHAMM|protein_coding|CODING|NM_001080435.2|10|1),"NHEK:CTCF,NHEK:H3K27ac,H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,NH-A:DNase1,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,HSMM:H3K4me1,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0634,0.1916,0.1203,0.00,0.00,0.00,,0.653556(N),1.000(P),1.62(T),0.0002(T),0.11,1.224994,5.57,1.54,-0.479000,0.291000,-0.146000,0.266000,0.127000,0.000000,8.6421
missense_variant,WHAMM,MISSENSE,NM_001080435.2:p.His736Gln/c.2208C>G,caC/caG,MODERATE,,0.134984,0.1935,rs11259954,0.56(T),0.041(B),1.245(L),-1.0729(T),,chr15,83502066,83502066,C,G,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His736Gln/c.2208C>G|809|WHAMM|protein_coding|CODING|NM_001080435.2|10|1),"NHEK:CTCF,NHEK:H3K27ac,H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,NH-A:DNase1,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,HSMM:H3K4me1,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0634,0.1902,0.1203,0.00,0.00,0.00,,0.653556(N),1.000(P),1.6(T),0.0001(T),0.074,0.945433,5.57,-10.6,-0.319000,-1.720000,-1.690000,0.272000,0.000000,0.000000,2.7903
missense_variant,C15orf40,MISSENSE,NM_001160113.1:p.Cys25Arg/c.73T>C,Tgc/Cgc,MODERATE,COSM3754516(3),0.623403,0.6905,rs4842860,0.17(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9946(T),,chr15,83680287,83680287,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys25Arg/c.73T>C|167|C15orf40|protein_coding|CODING|NM_001160113.1|1|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys25Arg/c.73T>C|153|C15orf40|protein_coding|CODING|NM_001160114.1|1|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys25Arg/c.73T>C|167|C15orf40|protein_coding|CODING|NM_001160115.1|1|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys25Arg/c.73T>C|149|C15orf40|protein_coding|CODING|NM_001160116.1|1|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys25Arg/c.73T>C|153|C15orf40|protein_coding|CODING|NM_144597.2|1|1),non_coding_exon_variant(MODIFIER|||n.107T>C||C15orf40||CODING|NR_027649.1|1|1),non_coding_exon_variant(MODIFIER|||n.107T>C||C15orf40||CODING|NR_027650.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,GM12878:ETS1,K562:SP2,HUVEC:H3K9ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,GM12878:ATF3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:THAP1,K562:Cmyc,K562:CTCFL,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.3548,0.7536,0.6183,0.65,0.70,0.63,,,1.000(P),,0.0000(T),0.444,0.675107,1.76,-1.95,-2.026000,-1.096000,0.347000,0.001000,0.000000,0.001000,3.5986
missense_variant,C15orf40,MISSENSE,NM_001160113.1:p.Leu11Phe/c.31C>T,Ctt/Ttt,MODERATE,COSM3754517(4),0.129992,0.003,rs17361375,0.66(T),"0.001,0.004,0.001(B,B,B)",0(N),-0.9727(T),,chr15,83680329,83680329,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu11Phe/c.31C>T|167|C15orf40|protein_coding|CODING|NM_001160113.1|1|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu11Phe/c.31C>T|153|C15orf40|protein_coding|CODING|NM_001160114.1|1|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu11Phe/c.31C>T|167|C15orf40|protein_coding|CODING|NM_001160115.1|1|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu11Phe/c.31C>T|149|C15orf40|protein_coding|CODING|NM_001160116.1|1|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu11Phe/c.31C>T|153|C15orf40|protein_coding|CODING|NM_144597.2|1|1),non_coding_exon_variant(MODIFIER|||n.65C>T||C15orf40||CODING|NR_027649.1|1|1),non_coding_exon_variant(MODIFIER|||n.65C>T||C15orf40||CODING|NR_027650.1|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,GM12878:ETS1,K562:SP2,HUVEC:H3K9ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,GM12878:ATF3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:THAP1,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.091,0.2291,0.1918,0.19,0.16,0.21,,,1.000(P),,0.0000(T),0.452,1.479786,3.61,-1.25,-1.717000,-0.228000,-0.601000,0.000000,0.000000,0.000000,3.9244
missense_variant,ADAMTSL3,MISSENSE,NM_207517.2:p.His146Arg/c.437A>G,cAt/cGt,MODERATE,COSM3754520(1),0.679313,0.8085,rs4483821,0.53(T),"0.002,0.0(B,B)",-0.02(N),-1.0299(T),,chr15,84488636,84488636,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His146Arg/c.437A>G|1682|ADAMTSL3|protein_coding|CODING|NM_001301110.1|6|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His146Arg/c.437A>G|1691|ADAMTSL3|protein_coding|CODING|NM_207517.2|6|1)",,,,,0.6452,0.549,0.4742,0.56,0.76,0.46,,0.701085(N),1.000(P),4.01(T),0.0000(T),0.073,-1.052018,5.26,-3.36,-1.663000,-0.823000,0.350000,0.043000,0.000000,0.000000,15.3716
missense_variant,ADAMTSL3,MISSENSE,NM_207517.2:p.Leu290Val/c.868C>G,Ctc/Gtc,MODERATE,,0.807508,0.7232,rs4144691,1(T),"0.001,0.0(B,B)",-0.055(N),-0.9605(T),,chr15,84539619,84539619,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu290Val/c.868C>G|1682|ADAMTSL3|protein_coding|CODING|NM_001301110.1|9|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu290Val/c.868C>G|1691|ADAMTSL3|protein_coding|CODING|NM_207517.2|9|1)",,,,,0.638,0.9078,0.7833,0.85,0.94,0.80,,0.830385(N),1.000(P),-0.06(T),0.0000(T),0.037,-2.816932,4.69,1.68,-0.357000,-0.175000,1.054000,0.021000,0.002000,0.998000,5.542
synonymous_variant,ADAMTSL3,SILENT,NM_207517.2:p.Pro582Pro/c.1746G>A,ccG/ccA,LOW,COSM3754521(1),0.386382,0.3294,rs12439867,,,,,,chr15,84581889,84581889,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro582Pro/c.1746G>A|1682|ADAMTSL3|protein_coding|CODING|NM_001301110.1|16|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro582Pro/c.1746G>A|1691|ADAMTSL3|protein_coding|CODING|NM_207517.2|16|1)",,,,,0.4141,0.4914,0.2117,0.29,0.44,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL3,SILENT,NM_207517.2:p.Arg587Arg/c.1761T>C,cgT/cgC,LOW,COSM3754522(1),0.686102,0.7202,rs386595826,,,,,,chr15,84581904,84581904,T,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg587Arg/c.1761T>C|1682|ADAMTSL3|protein_coding|CODING|NM_001301110.1|16|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg587Arg/c.1761T>C|1691|ADAMTSL3|protein_coding|CODING|NM_207517.2|16|1)",,,,,0.5879,0.7248,0.5308,0.62,0.78,0.54,,,,,,,,,,,,,,,,
missense_variant,ADAMTSL3,MISSENSE,NM_207517.2:p.Val661Leu/c.1981G>T,Gtg/Ttg,MODERATE,COSM3754523(1),0.685703,0.7202,rs386595825,0.72(T),"0.0,0.0(B,B)",-1.93(N),-0.9712(T),,chr15,84582124,84582124,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val661Leu/c.1981G>T|1682|ADAMTSL3|protein_coding|CODING|NM_001301110.1|16|1),missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val661Leu/c.1981G>T|1691|ADAMTSL3|protein_coding|CODING|NM_207517.2|16|1)",,"Height,Height",,,0.5849,0.7248,0.5318,0.62,0.78,0.54,,0.124530(N),1.000(P),0.19(T),0.0000(T),0.04,1.173578,5.05,-1.79,-0.362000,-0.598000,0.155000,0.967000,0.038000,0.387000,2.979
synonymous_variant,ADAMTSL3,SILENT,NM_207517.2:p.His970His/c.2910T>C,caT/caC,LOW,,0.869209,0.9544,rs386608120,,,,,,chr15,84651290,84651290,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His970His/c.2910T>C|1682|ADAMTSL3|protein_coding|CODING|NM_001301110.1|21|1),synonymous_variant(LOW|SILENT|caT/caC|p.His970His/c.2910T>C|1691|ADAMTSL3|protein_coding|CODING|NM_207517.2|21|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.7331,0.8703,0.7783,0.83,0.94,0.78,,,,,,,,,,,,,,,,
missense_variant,ADAMTSL3,MISSENSE,NM_207517.2:p.Thr1660Ile/c.4979C>T,aCa/aTa,MODERATE,COSM3736137(1),0.128994,0.0536,rs386623021,0.12(T),0.001(B),0.895(L),-1.0082(T),,chr15,84706461,84706461,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1660Ile/c.4979C>T|1691|ADAMTSL3|protein_coding|CODING|NM_207517.2|30|1),intron_variant(MODIFIER|||c.4987-54C>T|1682|ADAMTSL3|protein_coding|CODING|NM_001301110.1|29|1)",,,,,0.182,0.1787,0.2734,0.19,0.05,0.27,,0.383369(N),0.000(P),0.93(T),0.0000(T),0.063,1.861131,4.92,-0.0221,0.591000,0.071000,2.507000,0.988000,0.731000,1.000000,3.8634
missense_variant,ZSCAN2,MISSENSE,NM_017894.5:p.Val140Phe/c.418G>T,Gtt/Ttt,MODERATE,COSM4128494(1),0.905152,0.9494,rs2271433,0.11(T),0.0(B),,-1.0837(T),,chr15,85149771,85149771,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val140Phe/c.418G>T|150|ZSCAN2|protein_coding|CODING|NM_017894.5|3|1),intron_variant(MODIFIER|||c.406+2207G>T|146|ZSCAN2|protein_coding|CODING|NM_001007072.1|2|1),intron_variant(MODIFIER|||c.406+2207G>T|614|ZSCAN2|protein_coding|CODING|NM_181877.3|2|1)","H1ESC:H3K36me3,HepG2:H3K4me2,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,HepG2:FOXA2,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.8108,0.9035,0.8459,0.90,0.97,0.86,,,1.000(P),3.34(T),0.0000(T),0.05,-1.208600,0.865,0.865,-0.446000,-0.178000,-0.441000,0.014000,0.009000,0.002000,3.6815
missense_variant,ZSCAN2,MISSENSE,NM_181877.3:p.Ser191Thr/c.572G>C,aGc/aCc,MODERATE,,0.88119,0.9484,rs2044502,,"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-1.0505(T),,chr15,85163998,85163998,G,C,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser191Thr/c.572G>C|614|ZSCAN2|protein_coding|CODING|NM_181877.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7914,0.8818,0.8161,0.87,0.94,0.83,,0.924401(N),1.000(P),"3.28,3.28,3.28,3.28,3.3,3.42,3.41(T,T,T,T,T,T,T)",0.0000(T),0.076,-2.608519,4.76,1.64,-1.541000,0.113000,-0.352000,0.000000,0.000000,0.000000,0.9592
missense_variant,WDR73,MISSENSE,NM_032856.2:p.Asp334Gly/c.1001A>G,gAt/gGt,MODERATE,,0.0443291,0.001,rs72750868,0.49(T),0.004(B),0.77(N),-1.0841(T),,chr15,85186837,85186837,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp334Gly/c.1001A>G|378|WDR73|protein_coding|CODING|NM_032856.2|8|1),downstream_gene_variant(MODIFIER||1143|||SCAND2P||NON_CODING|NR_003654.2||1),downstream_gene_variant(MODIFIER||1143|||SCAND2P||NON_CODING|NR_004859.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.0375,0.0954,0.06,0.03,0.08,,0.117019(N),1.000(N),0.85(T),0.0024(T),0.121,2.546086,5.91,2.11,-0.250000,0.471000,0.678000,0.032000,0.065000,0.046000,5.71
missense_variant,WDR73,MISSENSE,NM_032856.2:p.Arg249His/c.746G>A,cGt/cAt,MODERATE,,0.0814696,0.002,rs11073619,0.38(T),0.001(B),-0.895(N),-0.9902(T),,chr15,85188839,85188839,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg249His/c.746G>A|378|WDR73|protein_coding|CODING|NM_032856.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0215,0.1902,0.1074,0.10,0.11,0.09,,0.158934(N),0.999(P),1.57(T),0.0001(T),0.008,-0.269511,5.8,2.21,-1.110000,0.111000,0.344000,0.138000,0.864000,0.891000,6.6191
synonymous_variant,WDR73,SILENT,NM_032856.2:p.Ser197Ser/c.591A>G,tcA/tcG,LOW,COSM4128496(1),0.895367,0.9494,rs2271432,,,,,,chr15,85188994,85188994,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser197Ser/c.591A>G|378|WDR73|protein_coding|CODING|NM_032856.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7904,0.8934,0.8191,0.88,0.97,0.84,,,,,,,,,,,,,,,,
synonymous_variant,ZNF592,SILENT,NM_014630.2:p.Gln746Gln/c.2238A>G,caA/caG,LOW,COSM4128497(1),0.783946,0.9435,rs2241645,,,,,,chr15,85333953,85333953,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln746Gln/c.2238A>G|1267|ZNF592|protein_coding|CODING|NM_014630.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118955.2,,0.7168,0.7176,0.7167,0.75,0.79,0.73,,,,,,,,,,,,,,,,
missense_variant,ZNF592,MISSENSE,NM_014630.2:p.Ser926Asn/c.2777G>A,aGc/aAc,MODERATE,COSM1375070(2),0.378395,0.4782,rs8182086,0.55(T),0.038(B),0.345(N),-0.9733(T),,chr15,85341859,85341859,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser926Asn/c.2777G>A|1267|ZNF592|protein_coding|CODING|NM_014630.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118956.2,,0.4397,0.3602,0.2326,0.26,0.33,0.22,,0.016036(N),0.848(P),6.26(T),0.0000(T),0.113,2.740064,4.75,4.75,0.655000,2.439000,1.816000,0.992000,1.000000,1.000000,15.2915
synonymous_variant,ALPK3,SILENT,NM_020778.4:p.Tyr8Tyr/c.24T>C,taT/taC,LOW,,0.864816,0.9494,rs11857356,,,,,,chr15,85360101,85360101,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr8Tyr/c.24T>C|1907|ALPK3|protein_coding|CODING|NM_020778.4|1|1),"GM06990:H3K27me3,HSMM:H3K27ac,HUVEC:H3K9ac,H1ESC:H3K27me3,HSMM:H3K9ac,NHEK:H3K27me3,HSMM:H3K4me3",,,,0.7812,0.7579,0.7883,0.86,0.95,0.81,,,,,,,,,,,,,,,,
synonymous_variant,ALPK3,SILENT,NM_020778.4:p.Gly645Gly/c.1935G>A,ggG/ggA,LOW,,0.74361,0.9355,rs3803406,,,,,,chr15,85383839,85383839,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly645Gly/c.1935G>A|1907|ALPK3|protein_coding|CODING|NM_020778.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.7035,0.6571,0.6272,0.68,0.74,0.64,,,,,,,,,,,,,,,,
missense_variant,ALPK3,MISSENSE,NM_020778.4:p.Pro1299Leu/c.3896C>T,cCt/cTt,MODERATE,COSM1478428(3),0.804712,0.8591,rs306197,0.76(T),0.0(B),-0.695(N),-0.9789(T),,chr15,85401259,85401259,C,T,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro1299Leu/c.3896C>T|1907|ALPK3|protein_coding|CODING|NM_020778.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7607,0.6974,0.7425,0.79,0.87,0.75,,0.000473(N),1.000(P),0.36(T),0.0000(T),0.04,-0.489358,4.33,1.91,-0.360000,-0.023000,-0.613000,0.108000,0.000000,0.000000,6.7556
synonymous_variant,ALPK3,SILENT,NM_020778.4:p.Gly1352Gly/c.4056T>C,ggT/ggC,LOW,COSM1478429(2),0.847843,0.9554,rs167379,,,,,,chr15,85401419,85401419,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1352Gly/c.4056T>C|1907|ALPK3|protein_coding|CODING|NM_020778.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7986,0.7637,0.8131,0.84,0.87,0.82,,,,,,,,,,,,,,,,
missense_variant,SLC28A1,MISSENSE,NM_001287762.1:p.Gln237Lys/c.709C>A,Cag/Aag,MODERATE,,0.300519,0.3075,rs8187758,0.39(T),"0.679,0.155,0.999,0.241,0.679(P,B,D,B,P)",1.475(L),-0.8947(T),,chr15,85448875,85448875,C,A,het,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln237Lys/c.709C>A|483|SLC28A1|protein_coding|CODING|NM_001287761.1|7|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln237Lys/c.709C>A|649|SLC28A1|protein_coding|CODING|NM_001287762.1|7|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln237Lys/c.709C>A|649|SLC28A1|protein_coding|CODING|NM_004213.4|8|1)",,,,,0.5072,0.3646,0.2366,0.21,0.17,0.22,,0.000000(D),0.000(P),"2.6,2.6,2.6,2.6,2.6,2.6(T,T,T,T,T,T)",0.0000(T),0.407,1.292038,4.03,4.03,0.557000,2.240000,5.575000,0.561000,0.974000,1.000000,11.8824
synonymous_variant,SLC28A1,SILENT,NM_001287762.1:p.Gln456Gln/c.1368A>G,caA/caG,LOW,COSM434468(4),0.930711,0.9583,rs2242048,,,,,,chr15,85478410,85478410,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln456Gln/c.1368A>G|649|SLC28A1|protein_coding|CODING|NM_001287762.1|13|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln456Gln/c.1368A>G|649|SLC28A1|protein_coding|CODING|NM_004213.4|14|1),intron_variant(MODIFIER|||c.1084-8266A>G|483|SLC28A1|protein_coding|CODING|NM_001287761.1|11|1)","NHEK:CTCF,K562:CTCF,HUVEC:CTCF,HeLa-S3:CTCF,HepG2:CTCF,HepG2:DNase1,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF",,,,0.9407,0.8775,0.8907,0.90,0.95,0.87,,,,,,,,,,,,,,,,
missense_variant,SLC28A1,MISSENSE,NM_001287762.1:p.Asp521Asn/c.1561G>A,Gac/Aac,MODERATE,,0.208067,0.0605,rs2242046,0.1(T),"0.009,0.002,0.009(B,B,B)",0.805(L),-0.9907(T),,chr15,85478729,85478729,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp521Asn/c.1561G>A|649|SLC28A1|protein_coding|CODING|NM_001287762.1|14|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp521Asn/c.1561G>A|649|SLC28A1|protein_coding|CODING|NM_004213.4|15|1),intron_variant(MODIFIER|||c.1084-7947G>A|483|SLC28A1|protein_coding|CODING|NM_001287761.1|11|1)","K562:H3K27ac,K562:H3K4me1,K562:H2AZ",,,,0.2556,0.2622,0.503,0.36,0.10,0.50,,0.989064(N),1.000(P),"4.5,4.67,4.68,4.68(T,T,T,T)",0.0000(T),0.045,0.890211,5.19,-0.144,-0.391000,-0.177000,0.816000,0.023000,0.000000,0.000000,2.0739
missense_variant,PDE8A,MISSENSE,NM_002605.2:p.Leu55Val/c.163C>G,Ctt/Gtt,MODERATE,COSM4128506(1),0.0373403,0.001,rs11540803,0.35(T),"0.0,0.0(B,B)",0.345(N),-1.1012(T),,chr15,85525556,85525556,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu55Val/c.163C>G|829|PDE8A|protein_coding|CODING|NM_002605.2|1|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu55Val/c.163C>G|783|PDE8A|protein_coding|CODING|NM_173454.1|1|1),intron_variant(MODIFIER|||c.-31+1640C>G|757|PDE8A|protein_coding|CODING|NM_001243137.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.0654,0.0461,0.0815,0.05,0.01,0.07,,0.739224(U),0.852(P),"-0.5,-0.5,-0.41(T,T,T)",0.0059(T),0.031,-0.733509,2.02,-1.28,-0.384000,-0.346000,0.571000,0.008000,0.015000,0.115000,6.3539
synonymous_variant,PDE8A,SILENT,NM_002605.2:p.Asn700Asn/c.2100C>T,aaC/aaT,LOW,,0.0856629,0,rs16974908,,,,,,chr15,85669452,85669452,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn628Asn/c.1884C>T|757|PDE8A|protein_coding|CODING|NM_001243137.1|20|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn700Asn/c.2100C>T|829|PDE8A|protein_coding|CODING|NM_002605.2|20|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn654Asn/c.1962C>T|783|PDE8A|protein_coding|CODING|NM_173454.1|19|1)","NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0331,0.0109,0.10,0.27,0.02,,,,,,,,,,,,,,,,
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Met452Thr/c.1355T>C,aTg/aCg,MODERATE,,0.583067,0.5784,rs2061821,1(T),"0.001,0.001(B,B)",0.46(N),-0.9088(T),,chr15,86122654,86122654,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met452Thr/c.1355T>C|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met452Thr/c.1355T>C|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.5736,0.6182,0.6153,0.63,0.59,0.64,,,1.000(P),"3.17,3.19(T,T)",0.0000(T),0.29,0.840732,5.18,-8.74,-0.371000,-1.276000,-0.755000,0.071000,0.000000,0.000000,14.316
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Trp494Arg/c.1480T>C,Tgg/Cgg,MODERATE,COSM3999652(1),0.596246,0.5794,rs2061822,0.68(T),"0.0,0.0(B,B)",0(N),-1.0334(T),,chr15,86122779,86122779,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp494Arg/c.1480T>C|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp494Arg/c.1480T>C|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.5757,0.6499,0.6511,0.65,0.60,0.67,,,1.000(P),"3.04,3.05(T,T)",0.0000(T),0.378,0.857011,5.15,2.25,-0.838000,0.414000,-0.087000,0.000000,0.000000,0.000000,4.5676
synonymous_variant,AKAP13,SILENT,NM_006738.5:p.Ala539Ala/c.1617T>C,gcT/gcC,LOW,,0.583267,0.5794,rs2061823,,,,,,chr15,86122916,86122916,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala539Ala/c.1617T>C|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala539Ala/c.1617T>C|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5736,0.6182,0.6153,0.63,0.59,0.64,,,,,,,,,,,,,,,,
synonymous_variant,AKAP13,SILENT,NM_006738.5:p.Asn557Asn/c.1671T>C,aaT/aaC,LOW,,0.00559105,0,rs17557307,,,,,,chr15,86122970,86122970,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn557Asn/c.1671T>C|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn557Asn/c.1671T>C|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0159,0.0149,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Arg574Cys/c.1720C>T,Cgt/Tgt,MODERATE,COSM3999655(1),0.583067,0.5784,rs2061824,0.36(T),"0.0,0.0(B,B)",-0.895(N),-0.9447(T),,chr15,86123019,86123019,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg574Cys/c.1720C>T|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg574Cys/c.1720C>T|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5736,0.6182,0.6153,0.63,0.59,0.64,,,1.000(P),"2.78,2.8(T,T)",0.0000(T),0.371,0.943177,5.76,-6.59,-0.290000,-0.658000,-0.839000,0.004000,0.000000,0.000000,1.1663
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Gly624Val/c.1871G>T,gGg/gTg,MODERATE,COSM3754534(1),0.134585,0.0169,rs745191,0.08(T),"0.002,0.004(B,B)",0.805(L),-0.9141(T),,chr15,86123170,86123170,G,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly624Val/c.1871G>T|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly624Val/c.1871G>T|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HSMM:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.1871,0.2233,0.3032,0.20,0.05,0.28,,,1.000(P),"2.98,2.96(T,T)",0.0000(T),0.378,1.976134,5.76,0.36,-0.140000,0.437000,0.120000,0.012000,0.000000,0.000000,3.1963
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Val845Ala/c.2534T>C,gTa/gCa,MODERATE,COSM4128509(1),0.582069,0.5784,rs386590672,0.8(T),"0.0,0.001(B,B)",0(N),-0.9970(T),,chr15,86123833,86123833,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val845Ala/c.2534T>C|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val845Ala/c.2534T>C|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,CD4:H2BK5ac,CD4:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3,GM12878:PU1",,,,0.5736,0.6167,0.6133,0.63,0.59,0.64,,,1.000(P),"2.76,2.76(T,T)",0.0000(T),0.17,-0.073444,5.68,0.0699,-0.735000,-0.113000,-1.248000,0.000000,0.000000,0.000000,6.5688
synonymous_variant,AKAP13,SILENT,NM_006738.5:p.Pro875Pro/c.2625C>T,ccC/ccT,LOW,COSM3999658(1),0.582268,0.5784,rs4075255,,,,,,chr15,86123924,86123924,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro875Pro/c.2625C>T|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro875Pro/c.2625C>T|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,CD4:H2BK5ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.5736,0.6182,0.6153,0.63,0.59,0.64,,,,,,,,,,,,,,,,
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Val897Met/c.2689G>A,Gtg/Atg,MODERATE,,0.582069,0.5784,rs4075254,0.04(D),"0.009,0.02(B,B)",0.55(N),-0.9968(T),,chr15,86123988,86123988,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val897Met/c.2689G>A|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val897Met/c.2689G>A|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,CD4:H2BK5ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.5736,0.6182,0.6153,0.63,0.59,0.64,,,1.000(P),"2.22,2.22(T,T)",0.0000(T),0.263,1.577444,5.68,3.8,0.655000,1.397000,0.662000,0.016000,0.004000,0.001000,7.9598
synonymous_variant,AKAP13,SILENT,NM_006738.5:p.Ser1040Ser/c.3120C>T,tcC/tcT,LOW,COSM3999660(1),0.58147,0.5784,rs4843073,,,,,,chr15,86124419,86124419,C,T,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1040Ser/c.3120C>T|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1040Ser/c.3120C>T|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:DNase1,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,CD4:H3K4me1,NHEK:H3K36me3,CD4:CTCF,CD4:H4K5ac,CD4:H3K4ac,GM12878:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.5736,0.6153,0.6153,0.63,0.59,0.64,,,,,,,,,,,,,,,,
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Pro1062Ala/c.3184C>G,Cct/Gct,MODERATE,COSM3999663(1),0.581869,0.5784,rs4843074,0.26(T),"0.079,0.164(B,B)",0.55(N),-0.9945(T),,chr15,86124483,86124483,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1062Ala/c.3184C>G|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro1062Ala/c.3184C>G|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:DNase1,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,CD4:H3K4me1,NHEK:H3K36me3,CD4:CTCF,CD4:H4K5ac,CD4:H3K4ac,GM12878:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.5726,0.6182,0.6153,0.63,0.59,0.64,,,0.991(P),"2.4,2.4(T,T)",0.0000(T),0.191,1.546134,4.55,-0.872,0.655000,-0.005000,-0.511000,0.038000,0.028000,0.000000,0.5594
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Asp1086Asn/c.3256G>A,Gat/Aat,MODERATE,,0.58127,0.5784,rs4843075,1(T),"0.0,0.0(B,B)",-0.55(N),-0.9756(T),,chr15,86124555,86124555,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp1086Asn/c.3256G>A|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp1086Asn/c.3256G>A|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,GM12878:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.5695,0.6182,0.6153,0.63,0.59,0.64,,,1.000(P),"3.16,3.16(T,T)",0.0000(T),0.034,-0.670763,4.94,-0.344,-0.254000,-0.293000,0.180000,0.040000,0.002000,0.000000,4.2114
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Met1216Thr/c.3647T>C,aTg/aCg,MODERATE,,0.582668,0.5813,rs7162168,0.58(T),"0.0,0.0(B,B)",0(N),-0.9509(T),,chr15,86124946,86124946,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1216Thr/c.3647T>C|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1216Thr/c.3647T>C|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","CD4:H3K9me1,H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,HSMM:DNase1,IMR90:H3K36me3,HSMM:H3K4me1,CD4:H3K36ac,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,GM12878:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,CD4:H3K4me2,HeLa-S3:H3K36me3,HUVEC:H3K27ac,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.5675,0.621,0.6153,0.63,0.59,0.64,,,1.000(P),"2.77,2.77(T,T)",0.0000(T),0.261,-0.673511,4.46,-4.99,-0.262000,-0.333000,-0.686000,0.000000,0.000000,0.000000,2.2785
synonymous_variant,AKAP13,SILENT,NM_006738.5:p.Arg1223Arg/c.3669G>A,agG/agA,LOW,COSM4128510(1),0.575679,0.5774,rs11633087,,,,,,chr15,86124968,86124968,G,A,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg1223Arg/c.3669G>A|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg1223Arg/c.3669G>A|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","CD4:H3K9me1,H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,HSMM:DNase1,IMR90:H3K36me3,HSMM:H3K4me1,CD4:H3K36ac,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,GM12878:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,CD4:H3K4me2,HeLa-S3:H3K36me3,HUVEC:H3K27ac,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.5675,0.6153,0.6113,0.62,0.58,0.64,,,,,,,,,,,,,,,,
synonymous_variant,AKAP13,SILENT,NM_006738.5:p.Gly1244Gly/c.3732G>A,ggG/ggA,LOW,COSM4128513(1),0.576677,0.5774,rs7178065,,,,,,chr15,86125031,86125031,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1244Gly/c.3732G>A|2817|AKAP13|protein_coding|CODING|NM_006738.5|7|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1244Gly/c.3732G>A|2813|AKAP13|protein_coding|CODING|NM_007200.4|7|1)","CD4:H3K9me1,H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,HSMM:H3K4me1,CD4:H3K36ac,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,GM12878:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,CD4:H3K4me2,HeLa-S3:H3K36me3,HUVEC:H3K27ac,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.5532,0.6182,0.6123,0.63,0.59,0.64,,,,,,,,,,,,,,,,
synonymous_variant,AKAP13,SILENT,NM_006738.5:p.Lys1409Lys/c.4227G>A,aaG/aaA,LOW,,0.0607029,0.0377,rs16942564,,,,,,chr15,86182670,86182670,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys49Lys/c.147G>A|1434|AKAP13|protein_coding|CODING|NM_001270546.1|2|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1409Lys/c.4227G>A|2817|AKAP13|protein_coding|CODING|NM_006738.5|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1409Lys/c.4227G>A|2813|AKAP13|protein_coding|CODING|NM_007200.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.1888,0.0388,0.05,0.07,0.04,,,,,,,,,,,,,,,,
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Gly2461Ser/c.7381G>A,Ggt/Agt,MODERATE,COSM3754541(1),0.136581,0.0486,rs2241268,0.12(T),"0.924,0.965(D,D)",1.075(L),-0.9994(T),,chr15,86278309,86278309,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly1078Ser/c.3232G>A|1434|AKAP13|protein_coding|CODING|NM_001270546.1|23|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly2461Ser/c.7381G>A|2817|AKAP13|protein_coding|CODING|NM_006738.5|31|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly2457Ser/c.7369G>A|2813|AKAP13|protein_coding|CODING|NM_007200.4|31|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1892,0.2248,0.2793,0.19,0.04,0.27,,,0.000(P),"2.14,2.14,2.14(T,T,T)",0.0000(T),0.274,3.418288,5.77,4.86,-0.363000,1.458000,2.615000,0.062000,0.860000,1.000000,14.2
missense_variant,AKAP13,MISSENSE,NM_006738.5:p.Pro2712Leu/c.8135C>T,cCc/cTc,MODERATE,,0.0555112,0.0357,rs61734378,0.13(T),"0.007,0.016(B,B)",1.67(L),-1.0275(T),,chr15,86286787,86286787,C,T,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro1329Leu/c.3986C>T|1434|AKAP13|protein_coding|CODING|NM_001270546.1|28|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro2712Leu/c.8135C>T|2817|AKAP13|protein_coding|CODING|NM_006738.5|36|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro2708Leu/c.8123C>T|2813|AKAP13|protein_coding|CODING|NM_007200.4|36|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.1844,0.0398,0.04,0.04,0.04,,,1.000(N),"2.87,2.87,1.76(T,T,T)",0.0006(T),0.109,0.773548,5.73,1.64,-0.150000,0.059000,1.410000,0.002000,0.000000,0.004000,3.6834
synonymous_variant,KLHL25,SILENT,NM_022480.3:p.Phe449Phe/c.1347C>T,ttC/ttT,LOW,COSM3754542(2),0.125,0.0188,rs1978391,,,,,,chr15,86311695,86311695,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe449Phe/c.1347C>T|589|KLHL25|protein_coding|CODING|NM_022480.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1472,0.2291,0.2883,0.20,0.05,0.27,,,,,,,,,,,,,,,,
synonymous_variant,KLHL25,SILENT,NM_022480.3:p.Leu121Leu/c.361C>T,Ctg/Ttg,LOW,COSM3765829(1),0.125,0.0188,rs11073537,,,,,,chr15,86312681,86312681,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu121Leu/c.361C>T|589|KLHL25|protein_coding|CODING|NM_022480.3|2|1),downstream_gene_variant(MODIFIER||1046|||MIR1276||NON_CODING|NR_031682.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1472,0.2291,0.2883,0.19,0.05,0.27,,,,,,,,,,,,,,,,
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Pro241Pro/c.723C>T,ccC/ccT,LOW,COSM3754543(1),0.539736,0.2163,rs1353578,,,,,,chr15,86800209,86800209,C,T,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro241Pro/c.723C>T|1066|AGBL1|protein_coding|CODING|NM_152336.2|7|1),,,,,0.5337,0.5346,0.5765,0.65,0.74,0.60,,,,,,,,,,,,,,,,
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Asp284Asp/c.852C>T,gaC/gaT,LOW,COSM3754544(1),,,rs1566088,,,,,,chr15,86806029,86806029,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp284Asp/c.852C>T|1066|AGBL1|protein_coding|CODING|NM_152336.2|9|1),,,,,,,,0.69,0.89,0.60,,,,,,,,,,,,,,,,
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Ala334Ala/c.1002C>T,gcC/gcT,LOW,,0.127995,0.0278,rs10520617,,,,,,chr15,86807542,86807542,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala334Ala/c.1002C>T|1066|AGBL1|protein_coding|CODING|NM_152336.2|10|1),,,,,0.1892,0.1974,0.1789,0.16,0.10,0.19,,,,,,,,,,,,,,,,
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Glu407Glu/c.1221A>G,gaA/gaG,LOW,COSM3754547(2),0.505391,0.3522,rs10520618,,,,,,chr15,86807761,86807761,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu407Glu/c.1221A>G|1066|AGBL1|protein_coding|CODING|NM_152336.2|10|1),,,,,0.5164,0.4798,0.4215,0.47,0.61,0.41,,,,,,,,,,,,,,,,
missense_variant,AGBL1,MISSENSE,NM_152336.2:p.Ser435Pro/c.1303T>C,Tcc/Ccc,MODERATE,,0.133586,0.0288,rs11857527,0.34(T),"0.055,0.037,0.003(B,B,B)",2.255(M),-1.0192(T),,chr15,86807843,86807843,T,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser435Pro/c.1303T>C|1066|AGBL1|protein_coding|CODING|NM_152336.2|10|1),,,,,0.1892,0.1988,0.1799,0.17,0.12,0.19,,0.112097(N),1.000(P),"2.77,2.75(T,T)",0.0000(T),0.054,2.770289,5.23,2.89,-0.323000,0.389000,0.589000,0.007000,0.001000,0.000000,6.399
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Val448Val/c.1344A>C,gtA/gtC,LOW,,0.133786,0.0278,rs11856833,,,,,,chr15,86807884,86807884,A,C,het,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val448Val/c.1344A>C|1066|AGBL1|protein_coding|CODING|NM_152336.2|10|1),,,,,0.1902,0.1988,0.1809,0.17,0.12,0.20,,,,,,,,,,,,,,,,
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Leu622Leu/c.1866A>G,ctA/ctG,LOW,COSM3754548(1),0.682109,0.3849,rs11858435,,,,,,chr15,86814866,86814866,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu622Leu/c.1866A>G|1066|AGBL1|protein_coding|CODING|NM_152336.2|14|1),,,,,0.7423,0.6974,0.675,0.73,0.84,0.68,,,,,,,,,,,,,,,,
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Thr754Thr/c.2262T>C,acT/acC,LOW,,0.744209,0.88,rs4362360,,,,,,chr15,86940622,86940622,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr754Thr/c.2262T>C|1066|AGBL1|protein_coding|CODING|NM_152336.2|17|1),,,,,0.6605,0.6859,0.4284,0.61,0.90,0.47,,,,,,,,,,,,,,,,
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Thr771Thr/c.2313C>T,acC/acT,LOW,,0.111022,0.0605,rs1367647,,,,,,chr15,86940673,86940673,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr771Thr/c.2313C>T|1066|AGBL1|protein_coding|CODING|NM_152336.2|17|1),,,,,0.1892,0.1844,0.1024,0.11,0.07,0.13,,,,,,,,,,,,,,,,
missense_variant,AGBL1,MISSENSE,NM_152336.2:p.Val849Met/c.2545G>A,Gtg/Atg,MODERATE,,0.0173722,0,rs144777747,0.04(D),0.134(B),0.85(L),-0.9897(T),,chr15,87066168,87066168,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val849Met/c.2545G>A|1066|AGBL1|protein_coding|CODING|NM_152336.2|18|1),splice_region_variant(LOW|||c.2545G>A|1066|AGBL1|protein_coding|CODING|NM_152336.2|18|1)",,,,,0.0378,0.0101,0.0119,0.01,0.01,0.01,,0.006912(U),0.997(N),"2.73,2.73(T,T)",0.0088(T),0.067,2.262065,5.93,1.46,0.655000,0.306000,0.088000,0.866000,0.414000,0.055000,5.6968
missense_variant,AGBL1,MISSENSE,NM_152336.2:p.Gln1010Arg/c.3029A>G,cAa/cGa,MODERATE,,0.892173,0.9167,rs8028043,0.57(T),0.0(B),-0.55(N),-1.0593(T),,chr15,87217613,87217613,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln1010Arg/c.3029A>G|1066|AGBL1|protein_coding|CODING|NM_152336.2|22|1),,,,,0.9438,0.8646,0.9215,0.89,0.85,0.91,,,1.000(P),"3.03,3.02(T,T)",0.0000(T),0.021,-1.117232,5.63,-0.0392,-2.200000,-0.114000,-0.002000,0.091000,0.000000,0.000000,8.9497
synonymous_variant,AGBL1,SILENT,NM_152336.2:p.Thr1049Thr/c.3147A>C,acA/acC,LOW,,0.820687,0.9187,rs1006030,,,,,,chr15,87531281,87531281,A,C,hom,synonymous_variant(LOW|SILENT|acA/acC|p.Thr1049Thr/c.3147A>C|1066|AGBL1|protein_coding|CODING|NM_152336.2|23|1),,,,,0.9509,0.7622,0.8579,0.81,0.69,0.86,,,,,,,,,,,,,,,,
synonymous_variant,NTRK3,SILENT,NM_001012338.2:p.Asn226Asn/c.678C>T,aaC/aaT,LOW,COSM4128521(1),0.998203,1,rs1863480,,,,,,chr15,88679785,88679785,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn226Asn/c.678C>T|612|NTRK3|protein_coding|CODING|NM_001007156.2|8|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn226Asn/c.678C>T|839|NTRK3|protein_coding|CODING|NM_001012338.2|8|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn226Asn/c.678C>T|817|NTRK3|protein_coding|CODING|NM_001243101.1|8|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn226Asn/c.678C>T|825|NTRK3|protein_coding|CODING|NM_002530.3|8|1)",HepG2:H3K27me3,,,,1,0.9986,0.993,1.00,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,NTRK3,SILENT,NM_001012338.2:p.Asn191Asn/c.573C>T,aaC/aaT,LOW,,0.270767,0.2222,rs1128994,,,,,,chr15,88680684,88680684,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn191Asn/c.573C>T|612|NTRK3|protein_coding|CODING|NM_001007156.2|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn191Asn/c.573C>T|839|NTRK3|protein_coding|CODING|NM_001012338.2|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn191Asn/c.573C>T|817|NTRK3|protein_coding|CODING|NM_001243101.1|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn191Asn/c.573C>T|825|NTRK3|protein_coding|CODING|NM_002530.3|7|1)",HepG2:H3K27me3,,,,0.2618,0.2046,0.2624,0.30,0.37,0.27,,,,,,,,,,,,,,,,
missense_variant,AEN,MISSENSE,NM_022767.3:p.Pro15Leu/c.44C>T,cCt/cTt,MODERATE,,0.0738818,0.002,rs3743477,0.01(D),"0.005,0.002(B,B)",0.895(L),-1.0238(T),,chr15,89169484,89169484,C,T,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro15Leu/c.44C>T|325|AEN|protein_coding|CODING|NM_022767.3|2|1),"H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.1053,0.0403,0.0507,0.07,0.12,0.05,,0.059148(N),1.000(P),"2.18,2.14(T,T)",0.0007(T),0.087,3.165784,4.18,2.28,0.563000,0.246000,1.554000,0.795000,0.003000,0.003000,4.3383
synonymous_variant,AEN,SILENT,NM_022767.3:p.Ala71Ala/c.213G>A,gcG/gcA,LOW,,0.0403355,0.002,rs34649587,,,,,,chr15,89169653,89169653,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala71Ala/c.213G>A|325|AEN|protein_coding|CODING|NM_022767.3|2|1),"H1ESC:H3K36me3,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.0777,0.0245,0.0457,0.04,0.04,0.04,,,,,,,,,,,,,,,,
missense_variant,AEN,MISSENSE,NM_022767.3:p.Asn140Asp/c.418A>G,Aat/Gat,MODERATE,,0.758387,0.754,rs8027765,1(T),"0.001,0.002(B,B)",-0.46(N),-0.9559(T),,chr15,89169858,89169858,A,G,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn140Asp/c.418A>G|325|AEN|protein_coding|CODING|NM_022767.3|2|1),"H1ESC:H3K36me3,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.8497,0.7795,0.9235,0.81,0.58,0.93,,0.085370(N),1.000(P),"1.61,1.61(T,T)",0.0000(T),0.001,-0.587796,5.32,4.4,-0.166000,0.628000,2.021000,0.649000,0.199000,0.989000,10.3624
synonymous_variant,AEN,SILENT,NM_022767.3:p.Thr214Thr/c.642G>C,acG/acC,LOW,COSM4128525(2),0.752396,0.753,rs3743475,,,,,,chr15,89172558,89172558,G,C,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr214Thr/c.642G>C|325|AEN|protein_coding|CODING|NM_022767.3|3|1),"H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.8456,0.7695,0.9135,0.81,0.58,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ISG20,SILENT,NM_002201.4:p.Leu138Leu/c.414A>G,ctA/ctG,LOW,COSM1129072(1),0.795327,0.7341,rs1137166,,,,,,chr15,89195526,89195526,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu138Leu/c.414A>G|181|ISG20|protein_coding|CODING|NM_002201.4|3|1),"CD4:H2BK5ac,CD4:H4K91ac,GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,CD4:H3K4me1,CD4:H3K4ac,GM06990:H3K36me3",,,,0.8865,0.7522,0.831,0.83,0.77,0.86,,,,,,,,,,,,,,,,
missense_variant,ACAN,MISSENSE,NM_013227.3:p.Arg275Gln/c.824G>A,cGg/cAg,MODERATE,COSM3754552(1),0.0820687,0.0764,rs34949187,0.2(T),"0.946,0.946,0.418(D,D,B)",1.01(L),-1.0447(T),,chr15,89386652,89386652,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg275Gln/c.824G>A|2431|ACAN|protein_coding|CODING|NM_001135.3|6|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg275Gln/c.824G>A|2530|ACAN|protein_coding|CODING|NM_013227.3|6|1)","GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0941,0.0951,0.165,0.13,0.04,0.18,,0.009286(N),0.873(P),"3.0,3.0(T,T)",0.0001(T),0.25,3.789786,5.56,5.56,0.650000,2.626000,5.756000,0.983000,0.999000,1.000000,18.5257
synonymous_variant,ACAN,SILENT,NM_013227.3:p.Pro541Pro/c.1623C>A,ccC/ccA,LOW,COSM147968(2),0.694289,0.4802,rs2272023,,,,,,chr15,89391160,89391160,C,A,het,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro541Pro/c.1623C>A|2431|ACAN|protein_coding|CODING|NM_001135.3|9|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro541Pro/c.1623C>A|2530|ACAN|protein_coding|CODING|NM_013227.3|9|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6575,0.6138,0.7406,0.80,0.88,0.75,,,,,,,,,,,,,,,,
synonymous_variant,ACAN,SILENT,NM_013227.3:p.Ala603Ala/c.1809T>C,gcT/gcC,LOW,,0.995607,1,rs1568116,,,,,,chr15,89392745,89392745,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala603Ala/c.1809T>C|2431|ACAN|protein_coding|CODING|NM_001135.3|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala603Ala/c.1809T>C|2530|ACAN|protein_coding|CODING|NM_013227.3|10|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9949,0.9986,0.9841,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,ACAN,SILENT,NM_013227.3:p.Pro763Pro/c.2289C>T,ccC/ccT,LOW,,0.35004,0.2083,rs2351491,,,,,,chr15,89398105,89398105,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro763Pro/c.2289C>T|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro763Pro/c.2289C>T|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",Height,,,0.3957,0.3746,0.6521,0.52,0.26,0.65,,,,,,,,,,,,,,,,
synonymous_variant,ACAN,SILENT,NM_013227.3:p.Ser838Ser/c.2514G>A,tcG/tcA,LOW,COSM4128534(1),0.758986,0.4911,rs3743399,,,,,,chr15,89398330,89398330,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser838Ser/c.2514G>A|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser838Ser/c.2514G>A|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7444,0.6527,0.8101,0.87,0.96,0.82,,,,,,,,,,,,,,,,
missense_variant,ACAN,MISSENSE,NM_013227.3:p.Ser930Ile/c.2789G>T,aGc/aTc,MODERATE,COSM146361(4),0.452676,0.2421,rs938608,0.44(T),"0.84,0.84(P,P)",1.845(L),-0.9570(T),,chr15,89398605,89398605,G,T,hom,"missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser930Ile/c.2789G>T|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser930Ile/c.2789G>T|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5153,0.3919,0.6531,0.60,0.49,0.65,,0.741404(N),1.000(P),"4.52,4.29(T,T)",0.0000(T),0.082,1.434070,5.06,-3.45,0.655000,-0.466000,-0.823000,0.226000,0.000000,0.000000,1.9092
missense_variant,ACAN,MISSENSE,NM_013227.3:p.Ser939Thr/c.2815T>A,Tct/Act,MODERATE,COSM3927719(2),0.392173,0.2073,rs938609,0.48(T),"0.779,0.779(P,P)",1.955(M),-0.9287(T),,chr15,89398631,89398631,T,A,hom,"missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser939Thr/c.2815T>A|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),missense_variant(MODERATE|MISSENSE|Tct/Act|p.Ser939Thr/c.2815T>A|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3957,0.3804,0.6521,0.57,0.39,0.65,,,1.000(P),"-4.28,-4.28(D,D)",0.0000(T),0.029,2.678067,4.89,1.18,0.460000,0.018000,-0.086000,0.595000,0.188000,0.000000,4.2498
missense_variant,ACAN,MISSENSE,NM_013227.3:p.Glu1508Ala/c.4523A>C,gAa/gCa,MODERATE,COSM3999671(1),0.424121,0.25,rs2882676,0.35(T),"0.304,0.242(B,B)",,-0.9948(T),,chr15,89400339,89400339,A,C,hom,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu1508Ala/c.4523A>C|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu1508Ala/c.4523A>C|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5143,0.3804,0.6521,0.57,0.39,0.65,,,1.000(P),"-3.51,-3.51(D,D)",0.0000(T),0.113,-0.375823,2.9,-2.06,0.260000,-0.544000,0.825000,0.950000,0.002000,0.029000,5.4084
missense_variant,ACAN,MISSENSE,NM_013227.3:p.Ile1765Val/c.5293A>G,Att/Gtt,MODERATE,,0.760383,0.494,rs4932439,1(T),"0.007,0.01(B,B)",,-1.0094(T),,chr15,89401109,89401109,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1765Val/c.5293A>G|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1765Val/c.5293A>G|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7485,0.6527,0.8101,0.87,0.96,0.82,,0.915321(N),0.991(P),"4.76,4.55(T,T)",0.0000(T),0.017,-1.432403,5.86,1.82,-0.119000,-0.103000,-0.059000,0.926000,0.482000,0.005000,6.0572
synonymous_variant,ACAN,SILENT,NM_013227.3:p.Thr1933Thr/c.5799T>G,acT/acG,LOW,COSM3999673(1),0.532548,0.5427,rs3825994,,,,,,chr15,89401615,89401615,T,G,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr1933Thr/c.5799T>G|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr1933Thr/c.5799T>G|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5112,0.5879,0.7326,0.65,0.44,0.75,,,,,,,,,,,,,,,,
missense_variant,ACAN,MISSENSE,NM_013227.3:p.Ile2079Val/c.6235A>G,Att/Gtt,MODERATE,COSM3927720(3),0.645966,0.5605,rs1042630,0.54(T),"0.026,0.005(B,B)",0.65(N),-0.9615(T),,chr15,89402051,89402051,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile2079Val/c.6235A>G|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile2079Val/c.6235A>G|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6115,0.6182,0.7386,0.73,0.70,0.75,,0.050297(N),1.000(P),"4.65,4.38(T,T)",0.0000(T),0.033,-2.960603,4.85,-9.69,-1.217000,-1.308000,-1.811000,0.003000,0.001000,0.000000,1.9954
synonymous_variant,ACAN,SILENT,NM_013227.3:p.Leu2141Leu/c.6423T>C,ctT/ctC,LOW,COSM3999675(1),0.736422,0.6111,rs1042631,,,,,,chr15,89402239,89402239,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu2141Leu/c.6423T>C|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu2141Leu/c.6423T>C|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6943,0.6801,0.7873,0.81,0.85,0.80,,,,,,,,,,,,,,,,
synonymous_variant,ACAN,SILENT,NM_013227.3:p.Ala2260Ala/c.6780T>G,gcT/gcG,LOW,,0.451478,0.4663,rs698621,,,,,,chr15,89402596,89402596,T,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala2260Ala/c.6780T>G|2431|ACAN|protein_coding|CODING|NM_001135.3|12|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala2260Ala/c.6780T>G|2530|ACAN|protein_coding|CODING|NM_013227.3|12|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4172,0.5259,0.6581,0.55,0.34,0.65,,,,,,,,,,,,,,,,
synonymous_variant,HAPLN3,SILENT,NM_178232.2:p.Pro8Pro/c.24G>A,ccG/ccA,LOW,COSM4128548(1),0.203674,0.2222,rs3743395,,,,,,chr15,89430506,89430506,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro8Pro/c.24G>A|360|HAPLN3|protein_coding|CODING|NM_178232.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1595,0.2248,0.2505,0.24,0.19,0.26,,,,,,,,,,,,,,,,
synonymous_variant,MFGE8,SILENT,NM_005928.2:p.Ser89Ser/c.267G>A,tcG/tcA,LOW,COSM147973(1),0.628994,0.4623,rs1878327,,,,,,chr15,89450546,89450546,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser89Ser/c.267G>A|335|MFGE8|protein_coding|CODING|NM_001114614.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser89Ser/c.267G>A|387|MFGE8|protein_coding|CODING|NM_005928.2|3|1)","H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5757,0.6138,0.6322,0.70,0.78,0.65,,,,,,,,,,,,,,,,
missense_variant,MFGE8,MISSENSE,NM_005928.2:p.Leu76Met/c.226C>A,Ctg/Atg,MODERATE,COSM147974(2),0.638379,0.4554,rs1878326,1(T),"0.016,0.005(B,B)",,-0.9187(T),,chr15,89450587,89450587,G,T,hom,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu76Met/c.226C>A|335|MFGE8|protein_coding|CODING|NM_001114614.1|3|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu76Met/c.226C>A|387|MFGE8|protein_coding|CODING|NM_005928.2|3|1)","H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6237,0.6167,0.6372,0.70,0.78,0.65,,0.000000(N),0.997(P),"-4.29,-4.29,-4.29,-1.62(D,D,D,D)",0.0000(T),0.159,-1.772135,5.32,4.18,-0.525000,0.319000,2.742000,0.029000,1.000000,1.000000,8.268
missense_variant,MFGE8,MISSENSE,NM_005928.2:p.Arg3Ser/c.7C>A,Cgc/Agc,MODERATE,,0.267572,0.1458,rs386478439,0.55(T),"0.027,0.012,0.027,0.012(B,B,B,B)",0(N),-0.6779(T),,chr15,89456544,89456544,G,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg3Ser/c.7C>A|335|MFGE8|protein_coding|CODING|NM_001114614.1|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg3Ser/c.7C>A|387|MFGE8|protein_coding|CODING|NM_005928.2|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:E2F6,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20",,,,0.3671,0.1931,0.3231,,,,,0.012334(N),1.000(P),"-4.69,-4.84,-4.78(D,D,D)",0.0000(T),0.481,1.036495,2.86,-0.479,0.313000,-0.076000,-1.407000,0.043000,0.008000,0.000000,5.1497
missense_variant,FANCI,MISSENSE,NM_001113378.1:p.Ala86Val/c.257C>T,gCg/gTg,MODERATE,COSM3754557(3),0.259784,0.3036,rs17803620,0.77(T),"0.055,0.062(B,B)",1.175(L),-0.9617(T),,chr15,89804043,89804043,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala86Val/c.257C>T|1328|FANCI|protein_coding|CODING|NM_001113378.1|4|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala86Val/c.257C>T|1268|FANCI|protein_coding|CODING|NM_018193.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.3458,0.3787,0.29,0.09,0.38,,0.000001(D),0.000(P),"0.95,0.95,0.95(T,T,T)",0.0000(T),0.405,2.866199,5.43,4.45,0.655000,2.534000,1.970000,0.955000,1.000000,0.997000,9.6142
missense_variant,FANCI,MISSENSE,NM_001113378.1:p.Cys742Ser/c.2225G>C,tGt/tCt,MODERATE,COSM1179764(5),0.264976,0.3135,rs2283432,0.4(T),"0.006,0.089,0.137(B,B,B)",1.39(L),-0.9006(T),,chr15,89836228,89836228,G,C,hom,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys742Ser/c.2225G>C|1328|FANCI|protein_coding|CODING|NM_001113378.1|22|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys742Ser/c.2225G>C|1268|FANCI|protein_coding|CODING|NM_018193.2|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3395,0.3473,0.3837,0.29,0.10,0.39,,0.000001(N),0.000(P),"1.63,1.63,1.63(T,T,T)",0.0000(T),0.303,1.945389,5.9,4.89,0.563000,2.793000,4.932000,0.993000,0.996000,1.000000,3.9069
synonymous_variant,FANCI,SILENT,NM_001113378.1:p.Lys849Lys/c.2547G>A,aaG/aaA,LOW,,0.980831,1,rs7183618,,,,,,chr15,89838236,89838236,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys849Lys/c.2547G>A|1328|FANCI|protein_coding|CODING|NM_001113378.1|24|1),intron_variant(MODIFIER|||c.2456+1008G>A|1268|FANCI|protein_coding|CODING|NM_018193.2|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9775,0.9813,0.9414,0.96,0.99,0.95,,,,,,,,,,,,,,,,
missense_variant,FANCI,MISSENSE,NM_001113378.1:p.Ile877Leu/c.2629A>T,Ata/Tta,MODERATE,COSM3754559(1),0.0595048,0.0595,rs35875311,0.6(T),0.058(B),1.52(L),-0.9742(T),,chr15,89838318,89838318,A,T,het,"missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile877Leu/c.2629A>T|1328|FANCI|protein_coding|CODING|NM_001113378.1|24|1),intron_variant(MODIFIER|||c.2456+1090A>T|1268|FANCI|protein_coding|CODING|NM_018193.2|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.092,0.072,0.0924,0.08,0.02,0.11,,0.002613(U),1.000(D),-0.79(T),0.0097(T),0.234,3.766935,5.98,5.98,0.482000,2.289000,4.129000,0.997000,1.000000,1.000000,16.4696
synonymous_variant,FANCI,SILENT,NM_001113378.1:p.Gly1302Gly/c.3906T>C,ggT/ggC,LOW,COSM3754561(1),0.41234,0.4256,rs1138465,,,,,,chr15,89858602,89858602,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1302Gly/c.3906T>C|1328|FANCI|protein_coding|CODING|NM_001113378.1|37|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1242Gly/c.3726T>C|1268|FANCI|protein_coding|CODING|NM_018193.2|36|1),downstream_gene_variant(MODIFIER||934||1239|POLG|protein_coding|CODING|NM_001126131.1||1),downstream_gene_variant(MODIFIER||934||1239|POLG|protein_coding|CODING|NM_002693.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3517,0.3934,0.3996,0.41,0.44,0.40,,,,,,,,,,,,,,,,
synonymous_variant,RHCG,SILENT,NM_016321.2:p.Asn54Asn/c.162C>T,aaC/aaT,LOW,,0.000599042,0,rs75221350,,,,,,chr15,90039614,90039614,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn54Asn/c.162C>T|479|RHCG|protein_coding|CODING|NM_016321.2|1|1),non_coding_exon_variant(MODIFIER|||n.231C>T||RHCG||CODING|NR_110261.1|1|1)","NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0,0,0.003,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,TICRR,MISSENSE,NM_152259.3:p.Arg287Cys/c.859C>T,Cgt/Tgt,MODERATE,,0.386581,0.3105,rs10775247,0.67(T),0.0(B),-1.87(N),-1.0137(T),,chr15,90126121,90126121,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg287Cys/c.859C>T|1910|TICRR|protein_coding|CODING|NM_152259.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.456,0.428,0.5616,0.48,0.29,0.57,,0.007531(N),0.951(P),2.68(T),0.0000(T),0.121,0.509198,5.44,-2.11,-0.332000,-0.528000,0.373000,0.259000,0.297000,0.986000,7.2199
missense_variant,TICRR,MISSENSE,NM_152259.3:p.Arg402Trp/c.1204C>T,Cgg/Tgg,MODERATE,COSM147976(2),0.361621,0.2331,rs11629584,0.25(T),0.0(B),-1.87(N),-0.9734(T),,chr15,90128966,90128966,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg402Trp/c.1204C>T|1910|TICRR|protein_coding|CODING|NM_152259.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4233,0.3775,0.5129,0.44,0.33,0.50,,0.121136(N),1.000(P),2.68(T),0.0000(T),0.25,2.255768,5.25,5.25,-0.312000,0.937000,1.751000,0.773000,1.000000,0.978000,9.9354
synonymous_variant,TICRR,SILENT,NM_152259.3:p.Cys576Cys/c.1728C>T,tgC/tgT,LOW,COSM147977(1),0.762979,0.7292,rs8042146,,,,,,chr15,90138670,90138670,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys576Cys/c.1728C>T|1910|TICRR|protein_coding|CODING|NM_152259.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8211,0.7522,0.8936,0.84,0.70,0.91,,,,,,,,,,,,,,,,
missense_variant,TICRR,MISSENSE,NM_152259.3:p.Arg1523Cys/c.4567C>T,Cgt/Tgt,MODERATE,COSM147978(1),0.850639,0.7153,rs894157,0.18(T),0.0(B),-0.69(N),-1.0427(T),,chr15,90168108,90168108,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1523Cys/c.4567C>T|1910|TICRR|protein_coding|CODING|NM_152259.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Obesity_related_traits,,,0.82,0.7853,0.8956,0.92,0.96,0.91,,0.609103(N),1.000(P),3.13(T),0.0000(T),0.053,1.054634,5.0,2.63,-1.480000,0.022000,2.981000,0.000000,0.000000,0.071000,6.427
missense_variant,TICRR,MISSENSE,NM_152259.3:p.Ser1718Thr/c.5152T>A,Tca/Aca,MODERATE,COSM3754562(2),0.385982,0.3968,rs1866928,0.13(T),0.002(B),-0.345(N),-0.9186(T),,chr15,90168693,90168693,T,A,het,missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser1718Thr/c.5152T>A|1910|TICRR|protein_coding|CODING|NM_152259.3|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3599,0.3285,0.335,0.36,0.41,0.34,,0.693698(N),1.000(P),3.13(T),0.0000(T),0.165,1.173020,5.51,0.722,-1.055000,0.356000,0.220000,0.028000,0.002000,0.007000,5.1564
missense_variant,TICRR,MISSENSE,NM_152259.3:p.Arg1885Cys/c.5653C>T,Cgc/Tgc,MODERATE,COSM3754563(1),0.267372,0.3958,rs3743372,0.03(D),0.804(P),1.87(L),-0.9037(T),,chr15,90170237,90170237,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1885Cys/c.5653C>T|1910|TICRR|protein_coding|CODING|NM_152259.3|22|1),downstream_gene_variant(MODIFIER||964||1343|KIF7|protein_coding|CODING|NM_198525.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3507,0.2839,0.33,0.25,0.09,0.33,,0.390899(N),0.000(P),3.02(T),0.0000(T),0.343,2.881889,5.55,3.49,0.563000,1.328000,0.993000,0.334000,0.816000,0.396000,8.4641
synonymous_variant,KIF7,SILENT,NM_198525.2:p.Ser1016Ser/c.3048G>A,tcG/tcA,LOW,COSM3932192(1),0.451078,0.3204,rs9672286,,,,,,chr15,90174789,90174789,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1016Ser/c.3048G>A|1343|KIF7|protein_coding|CODING|NM_198525.2|15|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000082817.3,,0.4796,0.4524,0.5616,0.54,0.49,0.57,,,,,,,,,,,,,,,,
missense_variant,KIF7,MISSENSE,NM_198525.2:p.Gly1005Arg/c.3013G>A,Ggg/Agg,MODERATE,,0.439297,0.3185,rs12900805,0.42(T),"0.004,0.001(B,B)",0.69(N),-0.9120(T),,chr15,90174824,90174824,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly1005Arg/c.3013G>A|1343|KIF7|protein_coding|CODING|NM_198525.2|15|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000082815.3,,0.4775,0.4496,0.5626,0.53,0.46,0.57,,0.060131(N),1.000(P),0.94(T),0.0000(T),0.011,1.080912,5.08,-0.473,-1.598000,-0.302000,1.143000,0.862000,0.067000,0.638000,9.0491
missense_variant,KIF7,MISSENSE,NM_198525.2:p.Ser958Ile/c.2873G>T,aGc/aTc,MODERATE,,0.438299,0.3224,rs3803530,0.22(T),"0.242,0.003(B,B)",1.445(L),-0.9029(T),,chr15,90176073,90176073,C,A,het,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser958Ile/c.2873G>T|1343|KIF7|protein_coding|CODING|NM_198525.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082813.3,,0.4693,0.4496,0.5626,0.54,0.47,0.57,,0.000004(N),0.041(P),0.88(T),0.0000(T),0.044,3.121702,5.35,4.4,0.563000,1.173000,1.100000,0.960000,1.000000,1.000000,7.2192
synonymous_variant,KIF7,SILENT,NM_198525.2:p.Ala886Ala/c.2658A>C,gcA/gcC,LOW,COSM147979(1),0.794529,0.7312,rs3803531,,,,,,chr15,90176432,90176432,T,G,hom,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala886Ala/c.2658A>C|1343|KIF7|protein_coding|CODING|NM_198525.2|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117420.2,,0.8221,0.7709,0.8946,0.87,0.79,0.91,,,,,,,,,,,,,,,,
missense_variant,KIF7,MISSENSE,NM_198525.2:p.Glu629Lys/c.1885G>A,Gag/Aag,MODERATE,,0.000998403,0,rs149814240,0.69(T),"0.001,0.003(B,B)",1.7(L),-0.9218(T),,chr15,90189161,90189161,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu629Lys/c.1885G>A|1343|KIF7|protein_coding|CODING|NM_198525.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0,0,0.005,0.00,0.00,0.01,,0.314425(N),0.766(N),-0.55(T),0.1563(T),0.451,-0.128647,3.63,1.68,-0.269000,0.296000,-0.100000,0.263000,0.426000,0.000000,6.5597
missense_variant,KIF7,MISSENSE,NM_198525.2:p.Thr368Ala/c.1102A>G,Acg/Gcg,MODERATE,COSM4128555(1),0.861422,0.7629,rs8037349,0.69(T),0.0(B),-0.69(N),-0.9913(T),,chr15,90191827,90191827,T,C,hom,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr368Ala/c.1102A>G|1343|KIF7|protein_coding|CODING|NM_198525.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,RCV000082811.3,,0.8292,0.7867,0.8936,0.92,0.97,0.90,,,1.000(P),-0.39(T),0.0000(T),0.035,0.427442,4.05,1.95,-0.404000,0.164000,-0.476000,0.001000,0.000000,0.113000,7.8431
synonymous_variant,KIF7,SILENT,NM_198525.2:p.Ala65Ala/c.195G>C,gcG/gcC,LOW,,0.860224,0.7569,rs8179066,,,,,,chr15,90195967,90195967,C,G,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala65Ala/c.195G>C|1343|KIF7|protein_coding|CODING|NM_198525.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,H1ESC:CTCF",,RCV000117415.2,,0.8262,0.7882,0.8966,0.93,0.97,0.91,,,,,,,,,,,,,,,,
missense_variant,KIF7,MISSENSE,NM_198525.2:p.Asp52Asn/c.154G>A,Gac/Aac,MODERATE,COSM3754564(8),0.242412,0.4117,rs8179065,0.03(D),0.015(B),0.845(L),-1.0465(T),,chr15,90196008,90196008,C,T,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp52Asn/c.154G>A|1343|KIF7|protein_coding|CODING|NM_198525.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,H1ESC:CTCF",,RCV000117413.2,,0.2914,0.2651,0.2614,,,,,,0.116(P),-0.89(T),0.0000(T),0.043,2.253446,4.66,2.35,0.655000,0.942000,0.710000,0.798000,0.763000,0.117000,4.3016
synonymous_variant,PLIN1,SILENT,NM_001145311.1:p.Val373Val/c.1119C>T,gtC/gtT,LOW,,0.282149,0.3472,rs2304796,,,,,,chr15,90210257,90210257,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val373Val/c.1119C>T|522|PLIN1|protein_coding|CODING|NM_001145311.1|8|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val373Val/c.1119C>T|522|PLIN1|protein_coding|CODING|NM_002666.4|8|1)","GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,RCV000117992.2,,0.4049,0.219,0.3062,0.27,0.18,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PLIN1,SILENT,NM_001145311.1:p.Pro371Pro/c.1113T>C,ccT/ccC,LOW,,0.396366,0.3135,rs2304795,,,,,,chr15,90210263,90210263,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro371Pro/c.1113T>C|522|PLIN1|protein_coding|CODING|NM_001145311.1|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro371Pro/c.1113T>C|522|PLIN1|protein_coding|CODING|NM_002666.4|8|1)","GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,RCV000117991.2,,0.5358,0.3746,0.3926,0.38,0.40,0.37,,,,,,,,,,,,,,,,
missense_variant,PLIN1,MISSENSE,NM_001145311.1:p.Pro194Ala/c.580C>G,Cca/Gca,MODERATE,,0.895767,0.7619,rs6496589,0.6(T),0.019(B),0.92(L),-0.9379(T),,chr15,90213229,90213229,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro194Ala/c.580C>G|522|PLIN1|protein_coding|CODING|NM_001145311.1|5|1),missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro194Ala/c.580C>G|522|PLIN1|protein_coding|CODING|NM_002666.4|5|1)","GM12878:H3K36me3,K562:H3K27me3",,RCV000117994.2,,0.8681,0.8401,0.9861,0.99,0.97,1.00,,0.120586(N),1.000(P),"3.37,3.37(T,T)",0.0000(T),0.046,-1.069191,5.21,3.11,0.305000,1.134000,0.527000,0.148000,0.861000,0.012000,9.6387
synonymous_variant,PEX11A,SILENT,NM_003847.2:p.Leu135Leu/c.405G>T,ctG/ctT,LOW,COSM3999679(1),0.505192,0.2917,rs7169981,,,,,,chr15,90226947,90226947,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu104Leu/c.312G>T|216|PEX11A|protein_coding|CODING|NM_001271572.1|3|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu135Leu/c.405G>T|247|PEX11A|protein_coding|CODING|NM_003847.2|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||102|PEX11A|protein_coding|CODING|NM_001271573.1|2|1),5_prime_UTR_variant(MODIFIER||31|c.-31G>T|102|PEX11A|protein_coding|CODING|NM_001271573.1|2|1)","IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4877,0.4914,0.6958,0.67,0.58,0.71,,,,,,,,,,,,,,,,
missense_variant,MESP2,MISSENSE,NM_001039958.1:p.Glu88Lys/c.262G>A,Gag/Aag,MODERATE,,,,,0.06(T),0.994(D),1.925(M),1.0305(D),,chr15,90319850,90319850,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu88Lys/c.262G>A|397|MESP2|protein_coding|CODING|NM_001039958.1|1|1),"NHEK:CTCF,HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,K562:PolII,HUVEC:Max,CD4:DNase1,HeLa-S3:Max,K562:CTCF,HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K4me2,HeLa-S3:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,HepG2:CTCF,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,K562:Nrsf,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,GM12878:Nrsf,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6",,,,,,,,,,,,1.000(D),-4.69(D),0.9347(D),0.497,4.123521,3.06,3.06,0.305000,1.527000,2.776000,0.841000,1.000000,1.000000,12.7489
synonymous_variant,ANPEP,SILENT,NM_001150.2:p.Thr321Thr/c.963G>A,acG/acA,LOW,,0.0399361,0.001,rs17240240,,,,,,chr15,90347783,90347783,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr321Thr/c.963G>A|967|ANPEP|protein_coding|CODING|NM_001150.2|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.046,0.0389,0.0895,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,ANPEP,SILENT,NM_001150.2:p.Leu318Leu/c.954G>T,ctG/ctT,LOW,,0.0333466,0.001,rs41276916,,,,,,chr15,90347792,90347792,C,A,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu318Leu/c.954G>T|967|ANPEP|protein_coding|CODING|NM_001150.2|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.045,0.0375,0.0905,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,ANPEP,MISSENSE,NM_001150.2:p.Ala311Val/c.932C>T,gCg/gTg,MODERATE,,0.071885,0.002,rs17240268,0.27(T),0.509(P),2.605(M),-0.9901(T),,chr15,90347814,90347814,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala311Val/c.932C>T|967|ANPEP|protein_coding|CODING|NM_001150.2|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.046,0.0576,0.0924,0.10,0.14,0.08,,0.055785(N),1.000(P),4.1(T),0.0001(T),0.024,2.776990,4.87,-2.78,-0.642000,-0.056000,-0.465000,0.031000,0.000000,0.000000,8.8366
synonymous_variant,ANPEP,SILENT,NM_001150.2:p.Asp118Asp/c.354C>T,gaC/gaT,LOW,,0.0425319,0.001,rs41276922,,,,,,chr15,90349461,90349461,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp118Asp/c.354C>T|967|ANPEP|protein_coding|CODING|NM_001150.2|2|1),"HUVEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0399,0.0403,0.0885,0.07,0.05,0.08,,,,,,,,,,,,,,,,
missense_variant,ANPEP,MISSENSE,NM_001150.2:p.Arg86Gln/c.257G>A,cGg/cAg,MODERATE,,0.579073,0.4861,rs25653,0.24(T),0.004(B),0.04(N),-1.0487(T),,chr15,90349558,90349558,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg86Gln/c.257G>A|967|ANPEP|protein_coding|CODING|NM_001150.2|2|1),"HUVEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4376,0.3948,0.5169,0.63,0.85,0.53,,0.550827(N),1.000(P),3.67(T),0.0000(T),0.234,0.559778,4.74,-5.37,-0.516000,-0.826000,-0.405000,0.261000,0.006000,0.000000,7.5308
synonymous_variant,SEMA4B,SILENT,NM_020210.3:p.Phe422Phe/c.1266C>T,ttC/ttT,LOW,COSM3754573(2),0.140974,0.0556,rs11547966,,,,,,chr15,90768271,90768271,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe422Phe/c.1266C>T|837|SEMA4B|protein_coding|CODING|NM_020210.3|11|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe422Phe/c.1266C>T|837|SEMA4B|protein_coding|CODING|NM_198925.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.182,0.1571,0.2575,0.19,0.09,0.24,,,,,,,,,,,,,,,,
synonymous_variant,SEMA4B,SILENT,NM_020210.3:p.Leu439Leu/c.1315C>T,Ctg/Ttg,LOW,COSM3754574(3),0.261182,0.37,rs11073918,,,,,,chr15,90768320,90768320,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu439Leu/c.1315C>T|837|SEMA4B|protein_coding|CODING|NM_020210.3|11|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu439Leu/c.1315C>T|837|SEMA4B|protein_coding|CODING|NM_198925.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3569,0.317,0.2584,0.19,0.12,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SEMA4B,SILENT,NM_020210.3:p.Arg530Arg/c.1588A>C,Agg/Cgg,LOW,,0.358227,0.1002,rs908044,,,,,,chr15,90768959,90768959,A,C,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg530Arg/c.1588A>C|837|SEMA4B|protein_coding|CODING|NM_020210.3|13|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg530Arg/c.1588A>C|837|SEMA4B|protein_coding|CODING|NM_198925.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1973,0.3026,0.3628,0.43,0.62,0.34,,,,,,,,,,,,,,,,
synonymous_variant,SEMA4B,SILENT,NM_020210.3:p.Pro781Pro/c.2343G>A,ccG/ccA,LOW,COSM3754576(1),0.22524,0.1062,rs3751656,,,,,,chr15,90771704,90771704,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro781Pro/c.2343G>A|837|SEMA4B|protein_coding|CODING|NM_020210.3|15|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro781Pro/c.2343G>A|837|SEMA4B|protein_coding|CODING|NM_198925.2|14|1),downstream_gene_variant(MODIFIER||1773||231|CIB1|protein_coding|CODING|NM_001277764.1||1),downstream_gene_variant(MODIFIER||1773||191|CIB1|protein_coding|CODING|NM_006384.3||1),downstream_gene_variant(MODIFIER||1773|||CIB1||CODING|NR_102427.1||1),downstream_gene_variant(MODIFIER||1773|||CIB1||CODING|NR_102428.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1616,0.1729,0.2406,0.26,0.34,0.22,,,,,,,,,,,,,,,,
missense_variant,SEMA4B,MISSENSE,NM_020210.3:p.Ser797Ala/c.2389T>G,Tcc/Gcc,MODERATE,COSM3754577(1),0.792931,0.8026,rs3751655,0.5(T),0.002(B),0.695(N),-1.0435(T),,chr15,90771750,90771750,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser797Ala/c.2389T>G|837|SEMA4B|protein_coding|CODING|NM_020210.3|15|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser797Ala/c.2389T>G|837|SEMA4B|protein_coding|CODING|NM_198925.2|14|1),downstream_gene_variant(MODIFIER||1727||231|CIB1|protein_coding|CODING|NM_001277764.1||1),downstream_gene_variant(MODIFIER||1727||191|CIB1|protein_coding|CODING|NM_006384.3||1),downstream_gene_variant(MODIFIER||1727|||CIB1||CODING|NR_102427.1||1),downstream_gene_variant(MODIFIER||1727|||CIB1||CODING|NR_102428.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7454,0.7781,0.6968,0.71,0.87,0.64,,0.301943(N),0.000(P),"2.01,2.01(T,T)",0.0000(T),0.012,0.368664,4.75,2.86,-1.165000,0.324000,0.929000,0.567000,0.959000,0.262000,4.0511
missense_variant,GDPGP1,MISSENSE,NM_001013657.2:p.Arg23Gly/c.67A>G,Agg/Ggg,MODERATE,,0.9998,1,rs7166441,0.45(T),0.0(B),-1.565(N),-1.0141(T),,chr15,90784207,90784207,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg23Gly/c.67A>G|385|GDPGP1|protein_coding|CODING|NM_001013657.2|4|1),intron_variant(MODIFIER|||n.104-7272T>C||CIB1||CODING|NR_102428.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,0.750452(N),1.000(P),1.93(T),0.0000(T),0.422,0.810034,5.35,0.179,-4.459000,-0.305000,0.213000,0.004000,0.000000,0.000000,7.34
missense_variant,GDPGP1,MISSENSE,NM_001013657.2:p.Met37Thr/c.110T>C,aTg/aCg,MODERATE,COSM3999684(1),0.820487,0.7996,rs7171194,0.61(T),0.0(B),-0.145(N),-1.0341(T),,chr15,90784250,90784250,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met37Thr/c.110T>C|385|GDPGP1|protein_coding|CODING|NM_001013657.2|4|1),intron_variant(MODIFIER|||n.104-7315A>G||CIB1||CODING|NR_102428.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7526,0.7968,0.7018,0.75,0.94,0.65,,0.435239(N),1.000(P),2.03(T),0.0000(T),0.319,1.348781,5.35,-1.38,-1.384000,-0.078000,0.115000,0.394000,0.000000,0.000000,5.664
missense_variant,NGRN,MISSENSE,NM_001033088.1:p.Leu174Phe/c.520C>T,Ctt/Ttt,MODERATE,,0.061901,0.0367,rs11073922,0.01(D),0.93(D),2.16(M),-0.8273(T),,chr15,90814664,90814664,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu174Phe/c.520C>T|291|NGRN|protein_coding|CODING|NM_001033088.1|3|1),non_coding_exon_variant(MODIFIER|||n.981C>T||NGRN||CODING|NR_028052.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.093,0.1023,0.1054,0.07,0.02,0.10,,0.052374(U),0.893(P),0.5(T),0.0126(T),0.1,3.144127,4.44,3.52,0.557000,1.213000,0.470000,0.021000,0.064000,0.001000,10.3927
synonymous_variant,ZNF774,SILENT,NM_001004309.2:p.Leu20Leu/c.60C>T,ctC/ctT,LOW,COSM3765838(1),0.316494,0.3472,rs8023776,,,,,,chr15,90897952,90897952,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu20Leu/c.60C>T|483|ZNF774|protein_coding|CODING|NM_001004309.2|2|1),NHEK:H3K36me3,,,,0.3037,0.196,0.1928,0.26,0.39,0.19,,,,,,,,,,,,,,,,
missense_variant,ZNF774,MISSENSE,NM_001004309.2:p.Asn83Ser/c.248A>G,aAt/aGt,MODERATE,,0.6875,0.8393,rs2589957,0.62(T),0.0(B),-0.55(N),-1.0303(T),,chr15,90903311,90903311,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn83Ser/c.248A>G|483|ZNF774|protein_coding|CODING|NM_001004309.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5982,0.6873,0.4513,0.57,0.75,0.47,,0.551823(N),1.000(P),1.78(T),0.0000(T),0.001,-0.159861,5.22,1.71,-2.026000,0.024000,0.019000,0.676000,0.495000,0.001000,1.5984
synonymous_variant,IQGAP1,SILENT,NM_003870.3:p.Pro710Pro/c.2130T>C,ccT/ccC,LOW,COSM3999685(1),0.436102,0.377,rs1505936,,,,,,chr15,91010776,91010776,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro710Pro/c.2130T>C|1657|IQGAP1|protein_coding|CODING|NM_003870.3|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3374,0.2695,0.328,0.45,0.68,0.33,,,,,,,,,,,,,,,,
synonymous_variant,FURIN,SILENT,NM_001289823.1:p.Gly617Gly/c.1851G>C,ggG/ggC,LOW,COSM3721867(4),0.721845,0.5357,rs6226,,,,,,chr15,91424574,91424574,G,C,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly617Gly/c.1851G>C|794|FURIN|protein_coding|CODING|NM_001289823.1|16|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly617Gly/c.1851G>C|794|FURIN|protein_coding|CODING|NM_001289824.1|16|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly617Gly/c.1851G>C|794|FURIN|protein_coding|CODING|NM_002569.3|16|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6472,0.6556,0.6958,0.76,0.93,0.68,,,,,,,,,,,,,,,,
synonymous_variant,FES,SILENT,NM_002005.3:p.Ser5Ser/c.15C>T,tcC/tcT,LOW,COSM4128579(1),0.58746,0.8065,rs11539637,,,,,,chr15,91428290,91428290,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser5Ser/c.15C>T|694|FES|protein_coding|CODING|NM_001143785.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser5Ser/c.15C>T|822|FES|protein_coding|CODING|NM_002005.3|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser5Ser/c.15C>T|764|FES|protein_coding|CODING|NM_001143783.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser5Ser/c.15C>T|752|FES|protein_coding|CODING|NM_001143784.1|1|1),downstream_gene_variant(MODIFIER||1602||794|FURIN|protein_coding|CODING|NM_001289823.1||1),downstream_gene_variant(MODIFIER||1602||794|FURIN|protein_coding|CODING|NM_001289824.1||1),downstream_gene_variant(MODIFIER||1602||794|FURIN|protein_coding|CODING|NM_002569.3||1)","HepG2:H3K4me2,HUVEC:H3K4me3,K562:H3K36me3,H1ESC:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,GM06990:DNase1",,,,0.6033,0.7277,0.5258,0.49,0.42,0.53,,,,,,,,,,,,,,,,
synonymous_variant,FES,SILENT,NM_002005.3:p.Ala168Ala/c.504T>C,gcT/gcC,LOW,,0.9377,0.8909,rs2071383,,,,,,chr15,91430436,91430436,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala110Ala/c.330T>C|764|FES|protein_coding|CODING|NM_001143783.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala168Ala/c.504T>C|752|FES|protein_coding|CODING|NM_001143784.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala110Ala/c.330T>C|694|FES|protein_coding|CODING|NM_001143785.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala168Ala/c.504T>C|822|FES|protein_coding|CODING|NM_002005.3|5|1)","HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.9499,0.9841,0.9563,0.96,0.93,0.97,,,,,,,,,,,,,,,,
missense_variant,MAN2A2,MISSENSE,NM_006122.2:p.Gln412Arg/c.1235A>G,cAg/cGg,MODERATE,COSM3754587(1),0.511581,0.9673,rs2106673,0.54(T),"0.001,0.001,0.001(B,B,B)",0(N),-0.9868(T),,chr15,91452595,91452595,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln412Arg/c.1235A>G|1150|MAN2A2|protein_coding|CODING|NM_006122.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4581,0.6066,0.2833,0.31,0.32,0.30,,0.001506(N),0.000(P),-0.8(T),0.0000(T),0.033,1.713975,5.74,2.42,-0.222000,0.394000,3.686000,0.955000,0.998000,1.000000,8.1177
missense_variant,PRC1,MISSENSE,NM_003981.3:p.Ala187Glu/c.560C>A,gCa/gAa,MODERATE,,0.998802,1,rs7172758,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.34(N),-0.9540(T),,chr15,91524841,91524841,G,T,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala146Glu/c.437C>A|525|PRC1|protein_coding|CODING|NM_001267580.1|4|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala187Glu/c.560C>A|620|PRC1|protein_coding|CODING|NM_003981.3|5|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala187Glu/c.560C>A|606|PRC1|protein_coding|CODING|NM_199413.2|5|1),intron_variant(MODIFIER|||n.311-344G>T||PRC1-AS1||NON_CODING|NR_051984.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.996,1.00,1.00,0.99,,0.000012(N),0.986(P),"1.6,1.6,1.6,1.6(T,T,T,T)",0.0000(T),0.48,1.082140,5.26,5.26,-0.256000,1.031000,5.469000,0.966000,0.661000,1.000000,12.311
missense_variant,VPS33B,MISSENSE,NM_018668.4:p.Gly514Ser/c.1540G>A,Ggt/Agt,MODERATE,COSM3754589(1),0.767772,0.996,rs11073964,1(T),"0.002,0.003(B,B)",-1.675(N),-0.9320(T),,chr15,91543761,91543761,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly487Ser/c.1459G>A|590|VPS33B|protein_coding|CODING|NM_001289148.1|19|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly423Ser/c.1267G>A|526|VPS33B|protein_coding|CODING|NM_001289149.1|19|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly514Ser/c.1540G>A|617|VPS33B|protein_coding|CODING|NM_018668.4|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7219,0.6686,0.3986,0.56,0.88,0.40,,0.000000(N),0.973(P),"-0.87,-0.87,-0.87(T,T,T)",0.0000(T),0.362,1.328511,5.83,5.83,-0.269000,1.028000,4.267000,0.829000,1.000000,1.000000,11.7519
synonymous_variant,VPS33B,SILENT,NM_018668.4:p.Arg51Arg/c.151C>A,Cga/Aga,LOW,,0.091254,0.0268,rs11542638,,,,,,chr15,91561061,91561061,G,T,het,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg51Arg/c.151C>A|617|VPS33B|protein_coding|CODING|NM_018668.4|2|1),5_prime_UTR_variant(MODIFIER||3432|c.-61C>A|526|VPS33B|protein_coding|CODING|NM_001289149.1|2|1),intron_variant(MODIFIER|||c.97-807C>A|590|VPS33B|protein_coding|CODING|NM_001289148.1|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:USF1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.1115,0.0576,0.0835,0.10,0.13,0.08,,,,,,,,,,,,,,,,
synonymous_variant,SV2B,SILENT,NM_014848.4:p.Asp481Asp/c.1443C>T,gaC/gaT,LOW,COSM4128595(1),0.333067,0.1419,rs1117388,,,,,,chr15,91825027,91825027,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp330Asp/c.990C>T|532|SV2B|protein_coding|CODING|NM_001167580.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp481Asp/c.1443C>T|683|SV2B|protein_coding|CODING|NM_014848.4|11|1)",HeLa-S3:DNase1,,,,0.1871,0.1758,0.2117,0.36,0.67,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SV2B,SILENT,NM_014848.4:p.His507His/c.1521C>T,caC/caT,LOW,,0.128195,0.0506,rs2301664,,,,,,chr15,91827264,91827264,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His356His/c.1068C>T|532|SV2B|protein_coding|CODING|NM_001167580.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His507His/c.1521C>T|683|SV2B|protein_coding|CODING|NM_014848.4|12|1)",HepG2:H3K27me3,,,,0.1288,0.062,0.0765,0.13,0.23,0.08,,,,,,,,,,,,,,,,
synonymous_variant,SLCO3A1,SILENT,NM_013272.3:p.Ala243Ala/c.729G>A,gcG/gcA,LOW,,0.321086,0.4087,rs2286355,,,,,,chr15,92638193,92638193,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala243Ala/c.729G>A|692|SLCO3A1|protein_coding|CODING|NM_001145044.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala243Ala/c.729G>A|710|SLCO3A1|protein_coding|CODING|NM_013272.3|3|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3845,0.4265,0.3738,0.30,0.14,0.39,,,,,,,,,,,,,,,,
missense_variant,SLCO3A1,MISSENSE,NM_013272.3:p.Glu294Asp/c.882G>C,gaG/gaC,MODERATE,,0.902556,0.9653,rs1517618,0.33(T),"0.001,0.002,0.008(B,B,B)",0.945(L),-0.9991(T),,chr15,92647645,92647645,G,C,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu294Asp/c.882G>C|692|SLCO3A1|protein_coding|CODING|NM_001145044.1|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu294Asp/c.882G>C|710|SLCO3A1|protein_coding|CODING|NM_013272.3|4|1)","NHEK:H3K36me3,HepG2:H3K27me3,H1ESC:Rad21",,,,0.8916,0.9193,0.827,0.85,0.89,0.83,,0.091509(N),1.000(P),"-1.47,-1.47(T,T)",0.0000(T),0.091,0.475553,5.31,3.07,-0.120000,0.622000,1.063000,0.976000,1.000000,1.000000,8.7016
synonymous_variant,FAM174B,SILENT,NM_207446.2:p.Ser73Ser/c.219T>C,agT/agC,LOW,COSM4128596(1),0.967252,1,rs501381,,,,,,chr15,93198671,93198671,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser73Ser/c.219T>C|159|FAM174B|protein_coding|CODING|NM_207446.2|1|1),"GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,H1ESC:CTCF",,,,1,0.9928,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
missense_variant,FAM174B,MISSENSE,NM_207446.2:p.Trp36Arg/c.106T>C,Tgg/Cgg,MODERATE,COSM3754591(3),0.967252,1,rs2438194,0.64(T),0.0(B),0(N),-1.0115(T),,chr15,93198784,93198784,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp36Arg/c.106T>C|159|FAM174B|protein_coding|CODING|NM_207446.2|1|1),"H1ESC:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,1,0.9928,1,,,,,0.549407(N),1.000(P),1.07(T),0.0000(T),0.048,-0.592196,3.26,-0.0151,-0.695000,-0.170000,0.348000,0.062000,0.000000,0.007000,3.033
synonymous_variant,CHD2,SILENT,NM_001271.3:p.Glu683Glu/c.2049A>G,gaA/gaG,LOW,,0.826478,0.999,rs4777755,,,,,,chr15,93510603,93510603,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu683Glu/c.2049A>G|1828|CHD2|protein_coding|CODING|NM_001271.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9121,0.8948,0.8529,0.77,0.62,0.84,,,,,,,,,,,,,,,,
synonymous_variant,CHD2,SILENT,NM_001271.3:p.Gln906Gln/c.2718A>G,caA/caG,LOW,,0.809105,0.999,rs11074121,,,,,,chr15,93521604,93521604,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln906Gln/c.2718A>G|1828|CHD2|protein_coding|CODING|NM_001271.3|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.91,0.889,0.8479,0.75,0.57,0.84,,,,,,,,,,,,,,,,
synonymous_variant,CHD2,SILENT,NM_001271.3:p.Arg1806Arg/c.5416A>C,Agg/Cgg,LOW,,0.186502,0.0575,rs12906163,,,,,,chr15,93567864,93567864,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg1806Arg/c.5416A>C|1828|CHD2|protein_coding|CODING|NM_001271.3|39|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2403,0.2248,0.3698,0.31,0.12,0.40,,,,,,,,,,,,,,,,
missense_variant,RGMA,MISSENSE,NM_001166283.1:p.Ala439Val/c.1316C>T,gCc/gTc,MODERATE,COSM3754593(4),0.260583,0.1835,rs4778078,0.05(D),"0.001,0.001(B,B)",1.1(L),-1.0421(T),,chr15,93588289,93588289,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala439Val/c.1316C>T|458|RGMA|protein_coding|CODING|NM_001166283.1|4|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala415Val/c.1244C>T|434|RGMA|protein_coding|CODING|NM_001166286.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala415Val/c.1244C>T|434|RGMA|protein_coding|CODING|NM_001166287.1|4|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala415Val/c.1244C>T|434|RGMA|protein_coding|CODING|NM_001166288.1|4|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala415Val/c.1244C>T|434|RGMA|protein_coding|CODING|NM_001166289.1|4|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala431Val/c.1292C>T|450|RGMA|protein_coding|CODING|NM_020211.2|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3",,,,0.3425,0.3069,0.2624,0.22,0.21,0.23,,0.442422(U),0.937(P),"-2.8,-2.8,-2.81,-2.8,-2.44,-2.81(D,D,D,D,D,D)",0.0001(T),0.097,2.387976,4.57,0.123,0.491000,0.075000,0.076000,0.005000,0.029000,0.021000,8.9468
missense_variant,RGMA,MISSENSE,NM_001166283.1:p.Asp423Glu/c.1269T>G,gaT/gaG,MODERATE,,1,1,rs4238485,1(T),"0.0,0.0(B,B)",-1.79(N),-0.9658(T),,chr15,93588336,93588336,A,C,hom,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp423Glu/c.1269T>G|458|RGMA|protein_coding|CODING|NM_001166283.1|4|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp399Glu/c.1197T>G|434|RGMA|protein_coding|CODING|NM_001166286.1|3|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp399Glu/c.1197T>G|434|RGMA|protein_coding|CODING|NM_001166287.1|4|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp399Glu/c.1197T>G|434|RGMA|protein_coding|CODING|NM_001166288.1|4|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp399Glu/c.1197T>G|434|RGMA|protein_coding|CODING|NM_001166289.1|4|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp415Glu/c.1245T>G|450|RGMA|protein_coding|CODING|NM_020211.2|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3",,,,1,1,1,,,,,0.000234(N),0.000(P),"-2.6,-2.6,-2.59,-2.6,-2.22,-2.59(D,D,D,D,D,D)",0.0000(T),0.093,-0.661155,4.71,-0.091,-0.648000,-0.150000,0.136000,0.118000,0.910000,0.959000,5.0631
synonymous_variant,MCTP2,SILENT,NM_018349.3:p.Val308Val/c.924G>C,gtG/gtC,LOW,COSM147989(4),0.48123,0.3383,rs8025851,,,,,,chr15,94884108,94884108,G,C,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val308Val/c.924G>C|823|MCTP2|protein_coding|CODING|NM_001159643.1|6|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val308Val/c.924G>C|878|MCTP2|protein_coding|CODING|NM_018349.3|6|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.4131,0.5418,0.5099,0.49,0.57,0.45,,,,,,,,,,,,,,,,
missense_variant,MCTP2,MISSENSE,NM_001159644.1:p.Arg285Leu/c.854G>T,cGc/cTc,MODERATE,COSM3999690(1),0.620407,0.5089,rs7178698,0.65(T),0.0(B),,-0.9791(T),,chr15,94945719,94945719,G,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg285Leu/c.854G>T|306|MCTP2|protein_coding|CODING|NM_001159644.1|10|1),intron_variant(MODIFIER|||c.2085+471G>T|878|MCTP2|protein_coding|CODING|NM_018349.3|16|1),intron_variant(MODIFIER|||c.2085+471G>T|823|MCTP2|protein_coding|CODING|NM_001159643.1|16|1)","CD4:H3K36me3,NHEK:H3K36me3",,,,0.6125,0.6484,0.8131,0.73,0.55,0.81,,,1.000(P),-0.09(T),0.0000(T),0.018,0.289024,4.39,-2.44,-1.962000,-0.821000,-0.547000,0.000000,0.000000,0.000000,3.8968
synonymous_variant,ARRDC4,SILENT,NM_183376.2:p.Gly3Gly/c.9G>C,ggG/ggC,LOW,COSM3749319(8),0.76238,0.879,rs4965046,,,,,,chr15,98504100,98504100,G,C,hom,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly3Gly/c.9G>C|418|ARRDC4|protein_coding|CODING|NM_183376.2|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,K562:E2F6,K562:H3K9ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,K562:H3K4me2,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.9141,0.7118,0.7485,0.77,0.69,0.81,,,,,,,,,,,,,,,,
missense_variant,ARRDC4,MISSENSE,NM_183376.2:p.Thr79Ala/c.235A>G,Acc/Gcc,MODERATE,,0.762181,0.88,rs12101554,1(T),0.0(B),0.55(N),-0.9610(T),,chr15,98504326,98504326,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr79Ala/c.235A>G|418|ARRDC4|protein_coding|CODING|NM_183376.2|1|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K4me3,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,K562:USF1,K562:E2F6,K562:H3K9ac,HepG2:H3K4me3,HSMM:H3K4me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.9131,0.7118,0.7485,0.74,0.68,0.77,,,0.999(P),3.18(T),0.0000(T),0.012,-0.113882,4.08,0.777,-0.370000,0.288000,-0.193000,0.003000,0.001000,0.005000,2.5111
missense_variant,FAM169B,MISSENSE,NM_182562.2:p.Ser115Pro/c.343T>C,Tcg/Ccg,MODERATE,,0.914936,0.996,rs12101356,1(T),0.0(B),-1.935(N),-0.9711(T),,chr15,98995081,98995081,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser115Pro/c.343T>C|192|FAM169B|protein_coding|CODING|NM_182562.2|5|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.953,0.9625,0.9433,0.89,0.79,0.94,,0.000004(N),1.000(P),2.86(T),0.0000(T),0.057,-0.897916,4.69,4.69,-0.124000,1.234000,6.301000,0.005000,0.028000,1.000000,11.9695
synonymous_variant,IGF1R,SILENT,NM_000875.4:p.Glu1043Glu/c.3129G>A,gaG/gaA,LOW,COSM3999692(2),0.335663,0.3462,rs2229765,,,,,,chr15,99478225,99478225,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1043Glu/c.3129G>A|1367|IGF1R|protein_coding|CODING|NM_000875.4|16|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1042Glu/c.3126G>A|1366|IGF1R|protein_coding|CODING|NM_001291858.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.316,0.3646,0.4294,0.40,0.30,0.46,,,,,,,,,,,,,,,,
missense_variant,PGPEP1L,MISSENSE,NM_001102612.2:p.Glu169Gln/c.505G>C,Gaa/Caa,MODERATE,COSM4128605(1),0.443291,0.4841,rs1521484,0.46(T),0.322(B),0.55(N),-0.9642(T),,chr15,99511793,99511793,C,G,het,"missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu169Gln/c.505G>C|196|PGPEP1L|protein_coding|CODING|NM_001102612.2|5|1),missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu115Gln/c.343G>C|142|PGPEP1L|protein_coding|CODING|NM_001167902.1|5|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6196,0.4914,0.5726,0.42,0.21,0.52,,0.022923(N),1.000(P),1.51(T),0.0000(T),0.071,2.178331,5.39,2.51,-0.140000,0.273000,1.000000,0.357000,0.213000,0.022000,10.1423
missense_variant,PGPEP1L,MISSENSE,NM_001102612.2:p.Pro3Leu/c.8C>T,cCg/cTg,MODERATE,COSM3749320(4),0.581669,0.5605,rs2593051,0(D),0.913(D),0(N),-0.9755(T),,chr15,99544429,99544429,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro3Leu/c.8C>T|196|PGPEP1L|protein_coding|CODING|NM_001102612.2|2|1),intron_variant(MODIFIER|||c.-142+4229C>T|142|PGPEP1L|protein_coding|CODING|NM_001167902.1|2|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6309,0.6196,0.7734,,,,,,1.000(P),1.37(T),0.0000(T),0.184,1.191628,.,.,0.121000,0.119000,0.170000,0.060000,0.053000,0.007000,.
synonymous_variant,SYNM,SILENT,NM_145728.2:p.Arg136Arg/c.408G>A,cgG/cgA,LOW,COSM4128607(1),0.432508,0.3849,rs1044356,,,,,,chr15,99645813,99645813,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg136Arg/c.408G>A|1252|SYNM|protein_coding|CODING|NM_015286.5|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg136Arg/c.408G>A|1564|SYNM|protein_coding|CODING|NM_145728.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:CTCF,HeLa-S3:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6",,,,0.3712,0.3458,0.331,,,,,,,,,,,,,,,,,,,
synonymous_variant,SYNM,SILENT,NM_145728.2:p.Arg153Arg/c.457A>C,Agg/Cgg,LOW,,0.432708,0.3889,rs11014,,,,,,chr15,99645862,99645862,A,C,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg153Arg/c.457A>C|1252|SYNM|protein_coding|CODING|NM_015286.5|1|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg153Arg/c.457A>C|1564|SYNM|protein_coding|CODING|NM_145728.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:CTCF,HeLa-S3:DNase1,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6",,,,0.3681,0.3458,0.331,,,,,,,,,,,,,,,,,,,
stop_lost,SYNM,MISSENSE,NM_145728.2:p.Ter272Argext*?/c.814T>C,Tga/Cga,HIGH,,0.574681,0.6944,rs2305445,0.13(T),0.141(B),,-0.9516(T),,chr15,99653800,99653800,T,C,het,"stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter272Argext*?/c.814T>C|1252|SYNM|protein_coding|CODING|NM_015286.5|2|1|WARNING_TRANSCRIPT_INCOMPLETE),stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter272Argext*?/c.814T>C|1564|SYNM|protein_coding|CODING|NM_145728.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6094,0.5432,0.6143,0.55,0.47,0.58,,,0.535(P),"-2.33,-2.33(D,D)",0.0000(T),0.314,1.953550,5.57,0.178,-0.960000,-0.537000,0.350000,0.794000,0.051000,0.001000,3.3131
stop_gained,SYNM,NONSENSE,NM_145728.2:p.Arg567*/c.1699C>T,Cga/Tga,HIGH,,0.134385,0.0496,rs3743244,1(T),"0.0,0.0(B,B)",,-1.0279(T),SYNM:0.50(2);SYNM:0.50(2);,chr15,99670265,99670265,C,T,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg567*/c.1699C>T|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg567*/c.1699C>T|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,0.1002,0.196,0.1342,0.16,0.16,0.15,,,1.000(P),"1.72,1.72(T,T)",0.0000(T),0.123,0.000810,5.87,-9.0,-0.982000,-1.737000,-1.999000,0.002000,0.000000,0.000000,4.3567
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Leu651Pro/c.1952T>C,cTc/cCc,MODERATE,,0.273562,0.0982,rs1670227,,,,,,chr15,99670518,99670518,T,C,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu651Pro/c.1952T>C|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu651Pro/c.1952T>C|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,0.1892,0.2579,0.2147,0.30,0.45,0.23,,,,,,,,,,,,,,,,
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Lys667Arg/c.2000A>G,aAg/aGg,MODERATE,,0.000599042,0,rs182970297,,,,,,chr15,99670566,99670566,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys667Arg/c.2000A>G|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys667Arg/c.2000A>G|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,0,0.0043,0,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Arg761Trp/c.2281C>T,Cgg/Tgg,MODERATE,,0.0241613,0.0208,rs3743247,0.28(T),"0.006,0.005(B,B)",,-1.0260(T),,chr15,99670847,99670847,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg761Trp/c.2281C>T|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg761Trp/c.2281C>T|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,0.0245,0.0274,0.0527,0.05,0.01,0.06,,,1.000(N),"-1.54,-1.56(D,D)",0.0513(T),0.211,-0.308897,5.25,1.5,0.655000,0.026000,-1.432000,0.008000,0.001000,0.000000,5.2684
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Leu808Pro/c.2423T>C,cTc/cCc,MODERATE,COSM4128609(1),0.792732,0.7103,rs3743248,,,,,,chr15,99670989,99670989,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu808Pro/c.2423T>C|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu808Pro/c.2423T>C|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac",,,,0.7301,0.7493,0.7525,0.80,0.93,0.74,,,,,,,,,,,,,,,,
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Leu1065Ser/c.3194T>C,tTa/tCa,MODERATE,COSM4128612(1),0.774161,0.7272,rs260087,,,,,,chr15,99671760,99671760,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu1065Ser/c.3194T>C|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu1065Ser/c.3194T>C|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7219,0.7421,0.7515,0.78,0.87,0.74,,,,,,,,,,,,,,,,
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Val1067Leu/c.3199G>C,Gtt/Ctt,MODERATE,,0.0259585,0.0208,rs5030698,0(D),"0.341,0.171(B,B)",,-0.4184(T),,chr15,99671765,99671765,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val1067Leu/c.3199G>C|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val1067Leu/c.3199G>C|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0266,0.0303,0.0586,0.05,0.01,0.07,,,0.779(D),"-1.71,-1.69(D,D)",0.0660(T),0.779,2.195735,5.32,5.32,0.655000,2.463000,4.067000,0.640000,1.000000,1.000000,12.5421
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Glu1345Gln/c.4033G>C,Gag/Cag,MODERATE,,0.123003,0.0506,rs7167599,1(T),0.01(B),,-1.0843(T),,chr15,99672599,99672599,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu1345Gln/c.4033G>C|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.3453-356G>C|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1002,0.1974,0.1372,0.15,0.14,0.15,,,1.000(P),-1.52(D),0.0003(T),0.194,-1.216988,5.28,0.881,-0.136000,0.179000,0.019000,0.001000,0.000000,0.000000,0.6595
missense_variant,SYNM,MISSENSE,NM_145728.2:p.Arg1386Gly/c.4156A>G,Agg/Ggg,MODERATE,COSM4128614(1),0.483626,0.628,rs2292288,1(T),,,-0.9636(T),,chr15,99672722,99672722,A,G,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg1386Gly/c.4156A>G|1564|SYNM|protein_coding|CODING|NM_145728.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.3453-233A>G|1252|SYNM|protein_coding|CODING|NM_015286.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5337,0.4755,0.5328,0.43,0.31,0.49,,,1.000(P),-1.5(D),0.0000(T),0.147,-0.386304,5.42,4.51,-0.119000,0.669000,1.488000,0.007000,0.002000,0.055000,9.7737
synonymous_variant,TTC23,SILENT,NM_001288615.1:p.Leu256Leu/c.768T>C,ctT/ctC,LOW,,0.855831,0.9415,rs2602016,,,,,,chr15,99715352,99715352,A,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu256Leu/c.768T>C|447|TTC23|protein_coding|CODING|NM_001288615.1|10|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu256Leu/c.768T>C|447|TTC23|protein_coding|CODING|NM_001288616.1|8|1),non_coding_exon_variant(MODIFIER|||n.1308T>C||TTC23||CODING|NR_109947.1|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7515,0.7795,0.7913,0.82,0.93,0.76,,,,,,,,,,,,,,,,
synonymous_variant,TTC23,SILENT,NM_001288615.1:p.His66His/c.198T>C,caT/caC,LOW,,0.0459265,0.0089,rs76007555,,,,,,chr15,99762052,99762052,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His66His/c.198T>C|447|TTC23|protein_coding|CODING|NM_001288615.1|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His66His/c.198T>C|447|TTC23|protein_coding|CODING|NM_001288616.1|4|1),non_coding_exon_variant(MODIFIER|||n.738T>C||TTC23||CODING|NR_109947.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0399,0.0418,0.0596,0.08,0.09,0.07,,,,,,,,,,,,,,,,
synonymous_variant,MEF2A,SILENT,NM_005587.2:p.Gln291Gln/c.873G>A,caG/caA,LOW,,0.886781,1,rs325407,,,,,,chr15,100246942,100246942,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln289Gln/c.867G>A|497|MEF2A|protein_coding|CODING|NM_001130926.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln229Gln/c.687G>A|437|MEF2A|protein_coding|CODING|NM_001130927.1|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln221Gln/c.663G>A|429|MEF2A|protein_coding|CODING|NM_001130928.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln289Gln/c.867G>A|497|MEF2A|protein_coding|CODING|NM_001171894.1|10|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln291Gln/c.873G>A|499|MEF2A|protein_coding|CODING|NM_005587.2|9|1)","H1ESC:H3K36me3,CD4:DNase1,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9712,0.999,0.89,0.65,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MEF2A,SILENT,NM_005587.2:p.Gly443Gly/c.1329G>T,ggG/ggT,LOW,COSM3999442(1),0.349241,0.2976,rs325400,,,,,,chr15,100252805,100252805,G,T,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly441Gly/c.1323G>T|497|MEF2A|protein_coding|CODING|NM_001130926.1|10|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly381Gly/c.1143G>T|437|MEF2A|protein_coding|CODING|NM_001130927.1|10|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly373Gly/c.1119G>T|429|MEF2A|protein_coding|CODING|NM_001130928.1|8|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly441Gly/c.1323G>T|497|MEF2A|protein_coding|CODING|NM_001171894.1|12|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly443Gly/c.1329G>T|499|MEF2A|protein_coding|CODING|NM_005587.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5,0.4078,0.5139,0.39,0.17,0.49,,,,,,,,,,,,,,,,
missense_variant,LYSMD4,MISSENSE,NM_152449.3:p.Thr196Ser/c.587C>G,aCc/aGc,MODERATE,COSM147991(2),0.148363,0.2054,rs72760587,0.48(T),"0.037,0.022(B,B)",1.415(L),-1.0224(T),,chr15,100269635,100269635,G,C,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr195Ser/c.584C>G|296|LYSMD4|protein_coding|CODING|NM_001284417.1|3|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr195Ser/c.584C>G|296|LYSMD4|protein_coding|CODING|NM_001284418.1|3|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr191Ser/c.572C>G|292|LYSMD4|protein_coding|CODING|NM_001284419.1|5|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr134Ser/c.401C>G|235|LYSMD4|protein_coding|CODING|NM_001284420.1|2|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr69Ser/c.206C>G|170|LYSMD4|protein_coding|CODING|NM_001284421.1|4|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr69Ser/c.206C>G|170|LYSMD4|protein_coding|CODING|NM_001284422.1|5|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr196Ser/c.587C>G|297|LYSMD4|protein_coding|CODING|NM_152449.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1247,0.2363,0.1093,0.10,0.11,0.10,,0.375306(N),1.000(P),"2.0,2.0,2.0,2.0(T,T,T,T)",0.0001(T),0.058,0.025520,5.13,4.2,0.655000,1.129000,4.356000,0.006000,0.002000,0.401000,11.9263
missense_variant,LYSMD4,MISSENSE,NM_152449.3:p.Ala181Gly/c.542C>G,gCa/gGa,MODERATE,,0.38119,0.374,rs2061007,0.21(T),"0.852,0.776(P,P)",2.38(M),-0.9367(T),,chr15,100269680,100269680,G,C,het,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala180Gly/c.539C>G|296|LYSMD4|protein_coding|CODING|NM_001284417.1|3|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala180Gly/c.539C>G|296|LYSMD4|protein_coding|CODING|NM_001284418.1|3|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala176Gly/c.527C>G|292|LYSMD4|protein_coding|CODING|NM_001284419.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala119Gly/c.356C>G|235|LYSMD4|protein_coding|CODING|NM_001284420.1|2|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala54Gly/c.161C>G|170|LYSMD4|protein_coding|CODING|NM_001284421.1|4|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala54Gly/c.161C>G|170|LYSMD4|protein_coding|CODING|NM_001284422.1|5|1),missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala181Gly/c.542C>G|297|LYSMD4|protein_coding|CODING|NM_152449.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5409,0.451,0.5905,0.46,0.16,0.61,,0.000200(D),0.372(P),"1.99,1.99,1.99,1.99(T,T,T,T)",0.0000(T),0.199,1.962662,5.13,2.2,-0.793000,0.183000,1.382000,0.024000,0.012000,0.712000,10.6473
missense_variant,LYSMD4,MISSENSE,NM_152449.3:p.Ala162Val/c.485C>T,gCc/gTc,MODERATE,COSM4148336(1),0.177516,0.2024,rs8041078,0.19(T),"0.137,0.173(B,B)",1.79(L),-1.0031(T),,chr15,100269737,100269737,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala161Val/c.482C>T|296|LYSMD4|protein_coding|CODING|NM_001284417.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala161Val/c.482C>T|296|LYSMD4|protein_coding|CODING|NM_001284418.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala157Val/c.470C>T|292|LYSMD4|protein_coding|CODING|NM_001284419.1|5|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala100Val/c.299C>T|235|LYSMD4|protein_coding|CODING|NM_001284420.1|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala35Val/c.104C>T|170|LYSMD4|protein_coding|CODING|NM_001284421.1|4|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala35Val/c.104C>T|170|LYSMD4|protein_coding|CODING|NM_001284422.1|5|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala162Val/c.485C>T|297|LYSMD4|protein_coding|CODING|NM_152449.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.2392,0.1163,0.14,0.20,0.10,,0.269839(N),1.000(P),"2.01,2.01,2.01,2.01(T,T,T,T)",0.0000(T),0.045,1.200500,4.83,3.91,0.655000,1.144000,0.099000,0.003000,0.004000,0.000000,14.0348
missense_variant,LYSMD4,MISSENSE,NM_152449.3:p.Ala158Val/c.473C>T,gCg/gTg,MODERATE,COSM1599991(2),0.167133,0.2024,rs8041089,0.4(T),"0.002,0.002(B,B)",-0.6(N),-0.9790(T),,chr15,100269749,100269749,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala157Val/c.470C>T|296|LYSMD4|protein_coding|CODING|NM_001284417.1|3|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala157Val/c.470C>T|296|LYSMD4|protein_coding|CODING|NM_001284418.1|3|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala153Val/c.458C>T|292|LYSMD4|protein_coding|CODING|NM_001284419.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala96Val/c.287C>T|235|LYSMD4|protein_coding|CODING|NM_001284420.1|2|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala31Val/c.92C>T|170|LYSMD4|protein_coding|CODING|NM_001284421.1|4|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala31Val/c.92C>T|170|LYSMD4|protein_coding|CODING|NM_001284422.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala158Val/c.473C>T|297|LYSMD4|protein_coding|CODING|NM_152449.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0971,0.2392,0.1163,0.12,0.16,0.10,,0.102518(N),1.000(P),"2.21,2.21,2.21,2.21(T,T,T,T)",0.0000(T),0.024,-1.533147,4.72,1.6,0.655000,0.283000,-0.162000,0.001000,0.000000,0.000000,2.6674
synonymous_variant,LYSMD4,SILENT,NM_152449.3:p.Ser142Ser/c.426T>C,tcT/tcC,LOW,COSM4148337(1),0.965455,1,rs6598264,,,,,,chr15,100269796,100269796,A,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser141Ser/c.423T>C|296|LYSMD4|protein_coding|CODING|NM_001284417.1|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser141Ser/c.423T>C|296|LYSMD4|protein_coding|CODING|NM_001284418.1|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser137Ser/c.411T>C|292|LYSMD4|protein_coding|CODING|NM_001284419.1|5|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser80Ser/c.240T>C|235|LYSMD4|protein_coding|CODING|NM_001284420.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser15Ser/c.45T>C|170|LYSMD4|protein_coding|CODING|NM_001284421.1|4|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser15Ser/c.45T>C|170|LYSMD4|protein_coding|CODING|NM_001284422.1|5|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser142Ser/c.426T>C|297|LYSMD4|protein_coding|CODING|NM_152449.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9928,1,0.96,0.88,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS17,SILENT,NM_139057.2:p.Gly704Gly/c.2112C>T,ggC/ggT,LOW,COSM3999450(2),0.263778,0.5,rs4965583,,,,,,chr15,100636586,100636586,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly704Gly/c.2112C>T|1095|ADAMTS17|protein_coding|CODING|NM_139057.2|15|1),"HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.1595,0.2925,0.1262,0.17,0.23,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS17,SILENT,NM_139057.2:p.Arg566Arg/c.1696A>C,Agg/Cgg,LOW,COSM4148338(1),0.997604,1,rs12907333,,,,,,chr15,100672237,100672237,T,G,hom,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg566Arg/c.1696A>C|1095|ADAMTS17|protein_coding|CODING|NM_139057.2|12|1),"NHEK:CTCF,K562:Max,HepG2:H3K4me2,HSMM:H3K27ac,K562:CTCF,HUVEC:CTCF,IMR90:DNase1,HSMM:CTCF,GM12878:CTCF,HSMM:DNase1,K562:Cmyc,K562:E2F6,NHEK:H3K27me3,K562:Rad21,HepG2:H3K4me3,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,K562:H3K4me2,HepG2:Cmyc,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CERS3,MISSENSE,NM_001290341.1:p.Arg381Gly/c.1141A>G,Agg/Ggg,MODERATE,,0.986022,0.999,rs2439928,0.59(T),0.0(B),0(N),-0.9868(T),,chr15,100942962,100942962,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg381Gly/c.1141A>G|394|CERS3|protein_coding|CODING|NM_001290341.1|14|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg370Gly/c.1108A>G|383|CERS3|protein_coding|CODING|NM_001290342.1|13|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg370Gly/c.1108A>G|383|CERS3|protein_coding|CODING|NM_001290343.1|13|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg370Gly/c.1108A>G|383|CERS3|protein_coding|CODING|NM_178842.3|13|1),intron_variant(MODIFIER|||n.211+2832T>C||LOC102723320||NON_CODING|NR_120374.1|2|1)",NHEK:H3K36me3,,,,1,0.9986,1,0.98,0.95,1.00,,0.235704(N),1.000(P),"3.29,3.29(T,T)",0.0000(T),0.044,-1.136438,5.26,3.36,-0.186000,0.626000,1.473000,0.107000,0.185000,0.059000,7.9327
synonymous_variant,CERS3,SILENT,NM_001290341.1:p.Arg64Arg/c.192A>G,agA/agG,LOW,,0.774361,0.9286,rs1354332,,,,,,chr15,101041896,101041896,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg64Arg/c.192A>G|394|CERS3|protein_coding|CODING|NM_001290341.1|5|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg53Arg/c.159A>G|383|CERS3|protein_coding|CODING|NM_001290342.1|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg53Arg/c.159A>G|383|CERS3|protein_coding|CODING|NM_001290343.1|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg53Arg/c.159A>G|383|CERS3|protein_coding|CODING|NM_178842.3|4|1)",NHEK:H3K36me3,,,,0.863,0.8026,0.8897,0.77,0.55,0.88,,,,,,,,,,,,,,,,
missense_variant,LINS,MISSENSE,NM_001040616.2:p.Arg680Ser/c.2040G>T,agG/agT,MODERATE,COSM147993(4),0.311502,0.246,rs8451,0.36(T),0.013(B),0.975(L),-0.9282(T),,chr15,101109677,101109677,C,A,het,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg680Ser/c.2040G>T|757|LINS|protein_coding|CODING|NM_001040616.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.2493,0.4513,0.41,0.28,0.47,,0.203988(N),1.000(P),2.93(T),0.0000(T),0.115,2.243482,5.62,0.38,0.591000,0.292000,-0.310000,0.367000,0.011000,0.000000,5.9971
missense_variant,LINS,MISSENSE,NM_001040616.2:p.Glu641Asp/c.1923G>C,gaG/gaC,MODERATE,COSM3999451(2),0.311502,0.244,rs12157,0.83(T),0.001(B),-1.15(N),-0.9227(T),,chr15,101109794,101109794,C,G,het,missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu641Asp/c.1923G>C|757|LINS|protein_coding|CODING|NM_001040616.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.2493,0.4513,0.41,0.28,0.47,,0.883818(N),1.000(P),2.78(T),0.0000(T),0.009,-1.528368,5.22,0.695,-0.187000,0.171000,0.066000,0.172000,0.002000,0.000000,2.1891
synonymous_variant,LINS,SILENT,NM_001040616.2:p.Asp633Asp/c.1899C>T,gaC/gaT,LOW,COSM4148339(2),0.45627,0.4911,rs12460,,,,,,chr15,101109818,101109818,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp633Asp/c.1899C>T|757|LINS|protein_coding|CODING|NM_001040616.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4744,0.4337,0.5378,0.50,0.39,0.56,,,,,,,,,,,,,,,,
synonymous_variant,LINS,SILENT,NM_001040616.2:p.Gly608Gly/c.1824G>T,ggG/ggT,LOW,COSM3999452(1),0.311701,0.247,rs6598356,,,,,,chr15,101109893,101109893,C,A,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly608Gly/c.1824G>T|757|LINS|protein_coding|CODING|NM_001040616.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.2493,0.4513,0.41,0.28,0.47,,,,,,,,,,,,,,,,
missense_variant,LINS,MISSENSE,NM_001040616.2:p.Met605Val/c.1813A>G,Atg/Gtg,MODERATE,,0.00179712,0,rs141855950,0.36(T),0.009(B),0.895(L),-0.9548(T),,chr15,101109904,101109904,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met605Val/c.1813A>G|757|LINS|protein_coding|CODING|NM_001040616.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.006,0.00,0.00,0.00,,0.559142(N),1.000(N),2.96(T),0.0142(T),0.222,0.627127,4.98,3.84,0.383000,0.722000,2.333000,0.002000,0.005000,0.262000,6.1077
synonymous_variant,LINS,SILENT,NM_001040616.2:p.Thr484Thr/c.1452A>T,acA/acT,LOW,COSM147994(4),0.311502,0.246,rs2411836,,,,,,chr15,101110265,101110265,T,A,het,synonymous_variant(LOW|SILENT|acA/acT|p.Thr484Thr/c.1452A>T|757|LINS|protein_coding|CODING|NM_001040616.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.2493,0.4513,0.41,0.28,0.47,,,,,,,,,,,,,,,,
missense_variant,LINS,MISSENSE,NM_001040616.2:p.Ser472Thr/c.1415G>C,aGc/aCc,MODERATE,COSM147995(2),0.254792,0.2252,rs2411837,0.07(T),0.114(B),1.39(L),-0.9121(T),,chr15,101110302,101110302,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser472Thr/c.1415G>C|757|LINS|protein_coding|CODING|NM_001040616.2|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3262,0.2219,0.4215,0.34,0.16,0.43,,0.949715(N),1.000(P),2.22(T),0.0000(T),0.031,0.415431,5.48,1.52,0.655000,0.285000,-0.174000,0.670000,0.025000,0.000000,8.2917
missense_variant,LINS,MISSENSE,NM_001040616.2:p.Val406Met/c.1216G>A,Gtg/Atg,MODERATE,,0.895168,0.6339,rs12719734,0.79(T),"0.0,0.001(B,B)",-1.23(N),-0.9684(T),,chr15,101113862,101113862,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val406Met/c.1216G>A|757|LINS|protein_coding|CODING|NM_001040616.2|5|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9407,0.9654,0.999,0.98,0.95,0.99,,0.112712(N),1.000(P),1.92(T),0.0000(T),0.093,-0.992088,5.98,4.86,-0.332000,0.521000,2.092000,0.540000,0.997000,1.000000,10.3306
synonymous_variant,LINS,SILENT,NM_001040616.2:p.Ser376Ser/c.1128T>C,agT/agC,LOW,COSM147996(2),0.327476,0.246,rs12592868,,,,,,chr15,101113950,101113950,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser376Ser/c.1128T>C|757|LINS|protein_coding|CODING|NM_001040616.2|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.2507,0.4513,0.42,0.32,0.47,,,,,,,,,,,,,,,,
synonymous_variant,LINS,SILENT,NM_001040616.2:p.Phe220Phe/c.660C>T,ttC/ttT,LOW,COSM3722370(3),0.314297,0.246,rs8039437,,,,,,chr15,101114418,101114418,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe220Phe/c.660C>T|757|LINS|protein_coding|CODING|NM_001040616.2|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.2493,0.4513,0.40,0.27,0.46,,,,,,,,,,,,,,,,
missense_variant,LINS,MISSENSE,NM_001040616.2:p.Ile29Val/c.85A>G,Atc/Gtc,MODERATE,COSM3936696(2),0.298522,0.246,rs11247226,0.86(T),"0.002,0.005(B,B)",0.55(N),-0.9163(T),,chr15,101120963,101120963,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile29Val/c.85A>G|757|LINS|protein_coding|CODING|NM_001040616.2|2|1),"H1ESC:H3K36me3,CD4:DNase1,CD4:H2BK20ac,K562:H3K36me3,CD4:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3834,0.2464,0.4523,0.39,0.23,0.47,,0.733828(N),1.000(P),1.84(T),0.0000(T),0.18,0.205418,5.63,-4.72,0.528000,-0.798000,-2.670000,0.571000,0.001000,0.000000,10.8854
synonymous_variant,LRRK1,SILENT,NM_024652.3:p.Arg26Arg/c.78T>C,cgT/cgC,LOW,COSM1128150(2),0.341254,0.1339,rs11630691,,,,,,chr15,101464915,101464915,T,C,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg26Arg/c.78T>C|2015|LRRK1|protein_coding|CODING|NM_024652.3|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3016,0.1772,0.2435,0.38,0.61,0.26,,,,,,,,,,,,,,,,
synonymous_variant,LRRK1,SILENT,NM_024652.3:p.Ser686Ser/c.2058G>A,tcG/tcA,LOW,,0.730631,0.8194,rs11247253,,,,,,chr15,101562793,101562793,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser686Ser/c.2058G>A|2015|LRRK1|protein_coding|CODING|NM_024652.3|15|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8793,0.8718,0.8668,0.72,0.45,0.85,,,,,,,,,,,,,,,,
synonymous_variant,LRRK1,SILENT,NM_024652.3:p.Thr1149Thr/c.3447A>G,acA/acG,LOW,COSM3754222(2),0.451078,0.8006,rs4965778,,,,,,chr15,101591923,101591923,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1149Thr/c.3447A>G|2015|LRRK1|protein_coding|CODING|NM_024652.3|24|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.456,0.598,0.4145,0.31,0.15,0.39,,,,,,,,,,,,,,,,
synonymous_variant,LRRK1,SILENT,NM_024652.3:p.Pro1511Pro/c.4533G>A,ccG/ccA,LOW,COSM3754228(1),0.318291,0.128,rs11857803,,,,,,chr15,101598200,101598200,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1511Pro/c.4533G>A|2015|LRRK1|protein_coding|CODING|NM_024652.3|29|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4192,0.2839,0.4493,0.42,0.32,0.46,,,,,,,,,,,,,,,,
synonymous_variant,LRRK1,SILENT,NM_024652.3:p.Thr1549Thr/c.4647C>T,acC/acT,LOW,COSM3765777(1),0.309904,0.1329,rs11853661,,,,,,chr15,101598314,101598314,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1549Thr/c.4647C>T|2015|LRRK1|protein_coding|CODING|NM_024652.3|29|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4202,0.2795,0.4374,0.40,0.29,0.45,,,,,,,,,,,,,,,,
missense_variant,LRRK1,MISSENSE,NM_024652.3:p.Gly1938Asp/c.5813G>A,gGc/gAc,MODERATE,COSM3736125(1),0.272165,0.3403,rs2924835,,,1.995(M),-1.0999(T),,chr15,101606889,101606889,G,A,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly1938Asp/c.5813G>A|2015|LRRK1|protein_coding|CODING|NM_024652.3|33|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.3559,0.3201,0.24,0.10,0.30,,,0.000(P),,0.0000(T),.,0.850072,5.51,5.51,0.655000,2.582000,3.321000,0.043000,0.014000,0.994000,15.7379
synonymous_variant,LRRK1,SILENT,NM_024652.3:p.Gly1938Gly/c.5814C>A,ggC/ggA,LOW,,0.272165,0.3403,rs2959197,,,,-1.0287(T),,chr15,101606890,101606890,C,A,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly1938Gly/c.5814C>A|2015|LRRK1|protein_coding|CODING|NM_024652.3|33|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.3559,0.3201,0.24,0.10,0.30,,,1.000(P),,0.0000(T),.,-1.088496,5.51,-11.0,-2.086000,-2.962000,-2.718000,0.041000,0.000000,0.000000,1.1282
synonymous_variant,CHSY1,SILENT,NM_014918.4:p.Tyr434Tyr/c.1302C>T,taC/taT,LOW,COSM3754236(1),0.0409345,0.0188,rs2005180,,,,,,chr15,101718700,101718700,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr434Tyr/c.1302C>T|802|CHSY1|protein_coding|CODING|NM_014918.4|3|1),"NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0685,0.0317,0.0795,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,PCSK6,MISSENSE,NM_002570.4:p.Glu465Lys/c.1393G>A,Gaa/Aaa,MODERATE,,0.144569,0.2371,rs1135911,,,,,,chr15,101924546,101924546,C,T,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu465Lys/c.1393G>A|486|PCSK6|protein_coding|CODING|NM_138322.3|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu465Lys/c.1393G>A|968|PCSK6|protein_coding|CODING|NM_002570.4|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu465Lys/c.1393G>A|955|PCSK6|protein_coding|CODING|NM_138319.3|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu465Lys/c.1393G>A|622|PCSK6|protein_coding|CODING|NM_138323.2|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu465Lys/c.1393G>A|651|PCSK6|protein_coding|CODING|NM_138324.2|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu465Lys/c.1393G>A|663|PCSK6|protein_coding|CODING|NM_138325.3|10|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.1308+5123G>A|894|PCSK6|protein_coding|CODING|NM_001291309.1|9|1|WARNING_TRANSCRIPT_INCOMPLETE)","IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2014,0.1383,0.1113,0.10,0.08,0.11,,,,,,,,,,,,,,,,
missense_variant,PCSK6,MISSENSE,NM_002570.4:p.Val93Leu/c.277G>C,Gta/Cta,MODERATE,COSM4148358(1),0.421526,0.2738,rs1135910,,,,,,chr15,102029597,102029597,C,G,het,"missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val93Leu/c.277G>C|894|PCSK6|protein_coding|CODING|NM_001291309.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val93Leu/c.277G>C|968|PCSK6|protein_coding|CODING|NM_002570.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val93Leu/c.277G>C|955|PCSK6|protein_coding|CODING|NM_138319.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val93Leu/c.277G>C|486|PCSK6|protein_coding|CODING|NM_138322.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val93Leu/c.277G>C|622|PCSK6|protein_coding|CODING|NM_138323.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val93Leu/c.277G>C|651|PCSK6|protein_coding|CODING|NM_138324.2|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val93Leu/c.277G>C|663|PCSK6|protein_coding|CODING|NM_138325.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:CTCF,HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HeLa-S3:CTCF,HUVEC:DNase1,K562:Cmyc,HMEC:H3K27me3,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HeLa-S3:E2F1,K562:DNase1,HeLa-S3:E2F6",,,,0.3753,0.3674,0.5577,,,,,,,,,,,,,,,,,,,
missense_variant,TM2D3,MISSENSE,NM_078474.2:p.Leu6Arg/c.17T>G,cTc/cGc,MODERATE,COSM4148365(1),0.993411,1,rs2939587,0.55(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0148(T),,chr15,102192548,102192548,A,C,hom,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu6Arg/c.17T>G|221|TM2D3|protein_coding|CODING|NM_025141.3|1|1),missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu6Arg/c.17T>G|247|TM2D3|protein_coding|CODING|NM_078474.2|1|1),downstream_gene_variant(MODIFIER||1407||802|TARSL2|protein_coding|CODING|NM_152334.2||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:CBP,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,GM12878:Pax5,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HeLa-S3:Tr4,K562:Cmyc,K562:CTCFL,HMEC:CTCF,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Egr1,K562:Rad21,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HeLa-S3:Ini1,HepG2:CTCF,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,HeLa-S3:E2F1,CD4:p300,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:PU1,HepG2:Yy1,K562:SP1,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.9939,0.9957,0.9771,0.99,1.00,0.98,,0.047248(N),1.000(P),,0.0000(T),0.047,1.462359,4.24,-3.54,-0.371000,-0.736000,-0.897000,0.008000,0.000000,0.000000,3.1365
synonymous_variant,TARSL2,SILENT,NM_152334.2:p.Ser529Ser/c.1587C>T,agC/agT,LOW,,0.398762,0.7014,rs12901450,,,,,,chr15,102224341,102224341,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser529Ser/c.1587C>T|802|TARSL2|protein_coding|CODING|NM_152334.2|12|1),"NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3804,0.438,0.2833,0.25,0.25,0.26,,,,,,,,,,,,,,,,
missense_variant,TARSL2,MISSENSE,NM_152334.2:p.Ala96Gly/c.287C>G,gCc/gGc,MODERATE,COSM3749289(6),0.458666,0.8165,rs1143138,0.52(T),0.001(B),0.895(L),-0.9639(T),,chr15,102264304,102264304,G,C,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala96Gly/c.287C>G|802|TARSL2|protein_coding|CODING|NM_152334.2|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,GM12878:TAF1,HeLa-S3:Ap2alpha,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,CD4:CTCF,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.5409,0.4481,0.3062,0.18,0.16,0.20,,0.216961(N),1.000(P),,0.0000(T),0.126,2.160894,1.38,1.38,0.298000,1.120000,0.087000,0.217000,0.782000,0.030000,6.2177
missense_variant,POLR3K,MISSENSE,NM_016310.4:p.Ser24Ala/c.70T>G,Tcc/Gcc,MODERATE,COSM4128617(1),1,1,rs183360,0.82(T),0.001(B),-0.53(N),-0.9509(T),,chr16,103517,103517,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser24Ala/c.70T>G|108|POLR3K|protein_coding|CODING|NM_016310.4|1|1),upstream_gene_variant(MODIFIER||312||132|SNRNP25|protein_coding|CODING|NM_024571.3||1)","H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,GM12878:Pbx3,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.000000(N),0.000(P),1.4(T),0.0000(T),0.213,0.816821,5.06,5.06,-0.352000,1.270000,4.538000,0.932000,1.000000,1.000000,14.0823
synonymous_variant,RHBDF1,SILENT,NM_022450.3:p.Ser774Ser/c.2322A>G,tcA/tcG,LOW,,0.785743,0.621,rs216598,,,,-1.0707(T),,chr16,108585,108585,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser774Ser/c.2322A>G|855|RHBDF1|protein_coding|CODING|NM_022450.3|18|1),downstream_gene_variant(MODIFIER||916||132|SNRNP25|protein_coding|CODING|NM_024571.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6851,0.7723,0.8221,0.87,0.95,0.83,,,0.000(P),,0.0000(T),.,-1.578485,5.07,-10.1,-2.521000,-4.610000,-7.684000,0.781000,0.033000,0.000000,3.3812
synonymous_variant,RHBDF1,SILENT,NM_022450.3:p.Ser476Ser/c.1428G>A,tcG/tcA,LOW,COSM3749322(2),0.0239617,0,rs79691782,0(D),"0.002,0.001(B,B)",,-0.9674(T),,chr16,111247,111247,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser476Ser/c.1428G>A|855|RHBDF1|protein_coding|CODING|NM_022450.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0133,0.0331,0.0795,0.05,0.01,0.07,,,1.000(N),-0.3(T),0.0080(T),.,1.869066,4.72,-8.24,0.205000,-0.780000,-2.765000,0.558000,0.985000,0.000000,8.9468
synonymous_variant,RGS11,SILENT,NM_183337.2:p.Asp140Asp/c.420T>C,gaT/gaC,LOW,COSM435194(2),0.738419,0.627,rs2685126,,,,,,chr16,324052,324052,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp129Asp/c.387T>C|456|RGS11|protein_coding|CODING|NM_001286485.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp119Asp/c.357T>C|446|RGS11|protein_coding|CODING|NM_003834.2|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp140Asp/c.420T>C|467|RGS11|protein_coding|CODING|NM_183337.2|6|1),5_prime_UTR_variant(MODIFIER||270|c.-64T>C|283|RGS11|protein_coding|CODING|NM_001286486.1|5|1)","GM06990:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7045,0.7867,0.6262,0.73,0.86,0.66,,,,,,,,,,,,,,,,
synonymous_variant,PDIA2,SILENT,NM_006849.2:p.Pro131Pro/c.393G>C,ccG/ccC,LOW,,0.246406,0.119,rs432925,,,,-1.0263(T),,chr16,334580,334580,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro131Pro/c.393G>C|525|PDIA2|protein_coding|CODING|NM_006849.2|2|1),downstream_gene_variant(MODIFIER||1577||225|ARHGDIG|protein_coding|CODING|NM_001176.3||1)","H1ESC:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2587,0.2089,0.2913,0.29,0.29,0.29,,,0.000(P),,0.0000(T),.,-1.171117,4.47,-8.93,-1.077000,-2.615000,-1.350000,0.013000,0.433000,0.000000,2.4162
synonymous_variant,PDIA2,SILENT,NM_006849.2:p.Asp160Asp/c.480C>T,gaC/gaT,LOW,COSM3754871(2),0.127796,0.0962,rs45593734,,,,-1.0258(T),,chr16,334732,334732,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp160Asp/c.480C>T|525|PDIA2|protein_coding|CODING|NM_006849.2|3|1),downstream_gene_variant(MODIFIER||1729||225|ARHGDIG|protein_coding|CODING|NM_001176.3||1)","H1ESC:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2035,0.0994,0.16,0.13,0.08,0.16,,,0.997(P),,0.0003(T),.,-1.157292,3.75,-3.55,0.457000,-0.782000,-2.516000,0.141000,0.349000,0.000000,3.4234
missense_variant,PDIA2,MISSENSE,NM_006849.2:p.Pro502Ser/c.1504C>T,Ccc/Tcc,MODERATE,COSM435210(2),0.122804,0.0992,rs1048786,0.48(T),0.003(B),0.55(N),-0.9139(T),,chr16,336916,336916,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro502Ser/c.1504C>T|525|PDIA2|protein_coding|CODING|NM_006849.2|10|1),downstream_gene_variant(MODIFIER||524||862|AXIN1|protein_coding|CODING|NM_003502.3||1),downstream_gene_variant(MODIFIER||524||826|AXIN1|protein_coding|CODING|NM_181050.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.226,0.0908,0.1571,0.13,0.07,0.16,,0.030840(N),0.973(P),"4.18,4.25,3.91(T,T,T)",0.0000(T),0.135,1.453672,3.28,2.29,0.549000,0.568000,0.351000,0.009000,0.546000,0.564000,7.9835
synonymous_variant,AXIN1,SILENT,NM_003502.3:p.Asp254Asp/c.762T>C,gaT/gaC,LOW,COSM3754893(1),0.638978,0.2897,rs1805105,,,,,,chr16,396264,396264,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp254Asp/c.762T>C|862|AXIN1|protein_coding|CODING|NM_003502.3|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp254Asp/c.762T>C|826|AXIN1|protein_coding|CODING|NM_181050.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7372,0.5375,0.6173,0.71,0.85,0.65,,,,,,,,,,,,,,,,
synonymous_variant,NME4,SILENT,NM_005009.2:p.Ser120Ser/c.360G>A,tcG/tcA,LOW,COSM147999(3),0.441893,0.3671,rs14293,,,,-0.9743(T),,chr16,449659,449659,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser86Ser/c.258G>A|153|NME4|protein_coding|CODING|NM_001286433.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser120Ser/c.360G>A|173|NME4|protein_coding|CODING|NM_001286435.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser50Ser/c.150G>A|117|NME4|protein_coding|CODING|NM_001286436.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser50Ser/c.150G>A|117|NME4|protein_coding|CODING|NM_001286438.1|5|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser50Ser/c.150G>A|117|NME4|protein_coding|CODING|NM_001286439.1|5|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser50Ser/c.150G>A|117|NME4|protein_coding|CODING|NM_001286440.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser120Ser/c.360G>A|187|NME4|protein_coding|CODING|NM_005009.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4509,0.4251,0.3648,0.45,0.55,0.40,,,0.001(P),,0.0000(T),.,-1.171406,4.7,-9.4,-4.346000,-2.144000,-3.108000,0.006000,0.029000,0.000000,3.1609
missense_variant,NME4,MISSENSE,NM_001286435.1:p.Ile166Thr/c.497T>C,aTt/aCt,MODERATE,,0.566693,0.4087,rs448063,,,,,,chr16,450165,450165,T,C,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile166Thr/c.497T>C|173|NME4|protein_coding|CODING|NM_001286435.1|5|1),upstream_gene_variant(MODIFIER||1693||292|DECR2|protein_coding|CODING|NM_020664.3||1),intron_variant(MODIFIER|||c.339-54T>C|153|NME4|protein_coding|CODING|NM_001286433.1|3|1),intron_variant(MODIFIER|||c.231-54T>C|117|NME4|protein_coding|CODING|NM_001286436.1|4|1),intron_variant(MODIFIER|||c.231-54T>C|117|NME4|protein_coding|CODING|NM_001286438.1|5|1),intron_variant(MODIFIER|||c.231-54T>C|117|NME4|protein_coding|CODING|NM_001286439.1|5|1),intron_variant(MODIFIER|||c.231-54T>C|117|NME4|protein_coding|CODING|NM_001286440.1|4|1),intron_variant(MODIFIER|||c.441-54T>C|187|NME4|protein_coding|CODING|NM_005009.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5,0.5965,0.4006,,,,,,,,,,,,,,,,,,,
synonymous_variant,NME4,SILENT,NM_005009.2:p.Asp177Asp/c.531C>T,gaC/gaT,LOW,COSM3754897(2),0.414137,0.3423,rs5841,,,,,,chr16,450309,450309,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp143Asp/c.429C>T|153|NME4|protein_coding|CODING|NM_001286433.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp107Asp/c.321C>T|117|NME4|protein_coding|CODING|NM_001286436.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp107Asp/c.321C>T|117|NME4|protein_coding|CODING|NM_001286438.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp107Asp/c.321C>T|117|NME4|protein_coding|CODING|NM_001286439.1|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp107Asp/c.321C>T|117|NME4|protein_coding|CODING|NM_001286440.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp177Asp/c.531C>T|187|NME4|protein_coding|CODING|NM_005009.2|5|1),3_prime_UTR_variant(MODIFIER||119|c.*119C>T|173|NME4|protein_coding|CODING|NM_001286435.1|5|1),upstream_gene_variant(MODIFIER||1549||292|DECR2|protein_coding|CODING|NM_020664.3||1)","H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.4601,0.4164,0.3638,0.42,0.47,0.39,,,,,,,,,,,,,,,,
synonymous_variant,RAB11FIP3,SILENT,NM_014700.3:p.Ala30Ala/c.90A>G,gcA/gcG,LOW,COSM4129084(4),1,1,rs1883371,,,,,,chr16,476096,476096,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala30Ala/c.90A>G|756|RAB11FIP3|protein_coding|CODING|NM_014700.3|1|1),"HeLa-S3:DNase1,H1ESC:H3K9ac,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,RAB11FIP3,SILENT,NM_014700.3:p.Ser705Ser/c.2115T>C,tcT/tcC,LOW,COSM4129137(1),0.790935,0.9911,rs11537754,,,,,,chr16,570557,570557,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser409Ser/c.1227T>C|460|RAB11FIP3|protein_coding|CODING|NM_001142272.1|11|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser705Ser/c.2115T>C|756|RAB11FIP3|protein_coding|CODING|NM_014700.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8507,0.6902,0.5398,0.61,0.76,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CAPN15,SILENT,NM_005632.2:p.Gly771Gly/c.2313T>C,ggT/ggC,LOW,COSM3754961(2),0.717252,0.7788,rs3213574,,,,,,chr16,601632,601632,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly771Gly/c.2313T>C|1086|CAPN15|protein_coding|CODING|NM_005632.2|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.6758,0.5199,0.61,0.78,0.52,,,,,,,,,,,,,,,,
synonymous_variant,CAPN15,SILENT,NM_005632.2:p.Ala840Ala/c.2520C>A,gcC/gcA,LOW,COSM435473(17),0.635184,0.8393,rs9930550,,,,,,chr16,602313,602313,C,A,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala840Ala/c.2520C>A|1086|CAPN15|protein_coding|CODING|NM_005632.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7536,0.5951,0.3569,0.43,0.57,0.36,,,,,,,,,,,,,,,,
synonymous_variant,CAPN15,SILENT,NM_005632.2:p.Pro1072Pro/c.3216A>G,ccA/ccG,LOW,COSM4129162(1),0.483027,0.3869,rs11248937,,,,,,chr16,603471,603471,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1072Pro/c.3216A>G|1086|CAPN15|protein_coding|CODING|NM_005632.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6237,0.4957,0.4334,0.46,0.46,0.45,,,,,,,,,,,,,,,,
missense_variant,PRR35,MISSENSE,NM_145270.2:p.Leu391Pro/c.1172T>C,cTg/cCg,MODERATE,COSM3749371(1),0.150359,0.0079,rs113355349,0.28(T),0.0(B),-0.345(N),-0.9235(T),,chr16,614763,614763,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu391Pro/c.1172T>C|571|PRR35|protein_coding|CODING|NM_145270.2|3|1),"H1ESC:DNase1,HepG2:H3K27me3",,,,0.3129,0.0965,0.1968,0.11,0.07,0.13,,0.095349(N),1.000(P),3.07(T),0.0000(T),0.027,1.072811,4.62,-0.413,-1.383000,-0.677000,-1.429000,0.002000,0.001000,0.000000,1.5533
synonymous_variant,PRR35,SILENT,NM_145270.2:p.Arg410Arg/c.1230A>G,cgA/cgG,LOW,COSM435474(8),0.190096,0.0278,rs1010761,,,,,,chr16,614821,614821,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg410Arg/c.1230A>G|571|PRR35|protein_coding|CODING|NM_145270.2|3|1),"H1ESC:DNase1,HepG2:H3K27me3",,,,0.3599,0.111,0.2068,0.17,0.16,0.17,,,,,,,,,,,,,,,,
missense_variant,PRR35,MISSENSE,NM_145270.2:p.Arg486Gln/c.1457G>A,cGg/cAg,MODERATE,COSM1563588(3),0.0101837,0,rs113068385,0.41(T),0.001(B),-1.04(N),-1.0435(T),,chr16,615048,615048,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg486Gln/c.1457G>A|571|PRR35|protein_coding|CODING|NM_145270.2|3|1),upstream_gene_variant(MODIFIER||1947||123|NHLRC4|protein_coding|CODING|NM_001301159.1||1),upstream_gene_variant(MODIFIER||1947||123|NHLRC4|protein_coding|CODING|NM_176677.2||1)","H1ESC:DNase1,HUVEC:DNase1,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.0031,0.0029,0.0447,0.03,0.01,0.04,,0.017638(N),1.000(N),,0.0050(T),0.007,0.939587,3.84,-7.67,-1.622000,-1.772000,0.058000,0.002000,0.000000,0.000000,1.6347
missense_variant,PIGQ,MISSENSE,NM_148920.2:p.Thr14Ala/c.40A>G,Acg/Gcg,MODERATE,COSM3754963(3),0.531949,0.6359,rs2071979,0.75(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.955(N),-0.9678(T),,chr16,624114,624114,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr14Ala/c.40A>G|581|PIGQ|protein_coding|CODING|NM_004204.3|2|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr14Ala/c.40A>G|760|PIGQ|protein_coding|CODING|NM_148920.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6227,0.4914,0.4264,0.43,0.48,0.41,,0.000156(N),1.000(P),"1.49,1.69,1.51,1.58,1.69,1.44,2.65,1.49(T,T,T,T,T,T,T,T)",0.0000(T),0.159,-0.532487,5.17,5.17,-0.282000,1.192000,7.784000,0.085000,0.002000,1.000000,13.0251
synonymous_variant,PIGQ,SILENT,NM_148920.2:p.Cys213Cys/c.639C>T,tgC/tgT,LOW,COSM3754964(4),0.536542,0.6349,rs4984669,,,,,,chr16,624713,624713,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys213Cys/c.639C>T|581|PIGQ|protein_coding|CODING|NM_004204.3|2|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys213Cys/c.639C>T|760|PIGQ|protein_coding|CODING|NM_148920.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6227,0.4914,0.4264,0.43,0.48,0.40,,,,,,,,,,,,,,,,
synonymous_variant,PIGQ,SILENT,NM_148920.2:p.Leu487Leu/c.1461C>G,ctC/ctG,LOW,COSM435482(1),0.137979,0.0248,rs1045274,,,,,,chr16,630902,630902,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu487Leu/c.1461C>G|581|PIGQ|protein_coding|CODING|NM_004204.3|9|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu487Leu/c.1461C>G|760|PIGQ|protein_coding|CODING|NM_148920.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.0807,0.1759,0.18,0.16,0.18,,,,,,,,,,,,,,,,
missense_variant,PIGQ,MISSENSE,NM_004204.3:p.Gly523Ser/c.1567G>A,Ggc/Agc,MODERATE,COSM3754965(3),0.138978,0.0248,rs7187227,0.68(T),0.988(D),2.24(M),-1.0707(T),,chr16,632283,632283,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly523Ser/c.1567G>A|581|PIGQ|protein_coding|CODING|NM_004204.3|10|1),intron_variant(MODIFIER|||c.1532-600G>A|760|PIGQ|protein_coding|CODING|NM_148920.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.2587,0.0793,0.1799,0.17,0.15,0.18,,,0.000(P),"0.92,0.92(T,T)",0.0005(T),0.649,4.284826,5.08,5.08,0.561000,2.361000,5.884000,0.430000,0.995000,1.000000,17.4349
missense_variant,PIGQ,MISSENSE,NM_148920.2:p.Cys592Arg/c.1774T>C,Tgt/Cgt,MODERATE,COSM435483(3),0.530751,0.6369,rs1045277,,"0.0,0.0(B,B)",0(N),-0.9833(T),,chr16,633125,633125,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys592Arg/c.1774T>C|760|PIGQ|protein_coding|CODING|NM_148920.2|10|1),3_prime_UTR_variant(MODIFIER||90|c.*90T>C|581|PIGQ|protein_coding|CODING|NM_004204.3|11|1)","H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.6268,0.4885,0.4324,0.43,0.47,0.41,,,1.000(P),1.94(T),0.0000(T),0.049,-0.641783,1.68,1.68,-0.479000,0.306000,-2.106000,0.163000,0.003000,0.000000,4.2548
missense_variant,PIGQ,MISSENSE,NM_148920.2:p.Cys668Arg/c.2002T>C,Tgt/Cgt,MODERATE,COSM1128914(7),0.530551,0.6379,rs710924,,"0.0,0.0(B,B)",0(N),-0.9544(T),,chr16,633353,633353,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys668Arg/c.2002T>C|760|PIGQ|protein_coding|CODING|NM_148920.2|10|1),3_prime_UTR_variant(MODIFIER||318|c.*318T>C|581|PIGQ|protein_coding|CODING|NM_004204.3|11|1)","H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6268,0.4885,0.4324,0.41,0.45,0.39,,,1.000(P),1.94(T),0.0000(T),0.043,-1.571008,2.39,1.29,-0.479000,-0.082000,-2.893000,0.007000,0.000000,0.000000,5.1028
missense_variant,PIGQ,MISSENSE,NM_148920.2:p.Cys668Tyr/c.2003G>A,tGt/tAt,MODERATE,COSM3754966(5),0.530152,0.6369,rs710925,,"0.018,0.003(B,B)",0(N),-0.9203(T),,chr16,633354,633354,G,A,hom,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys668Tyr/c.2003G>A|760|PIGQ|protein_coding|CODING|NM_148920.2|10|1),3_prime_UTR_variant(MODIFIER||319|c.*319G>A|581|PIGQ|protein_coding|CODING|NM_004204.3|11|1)","H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6268,0.4885,0.4324,0.41,0.45,0.39,,,1.000(P),1.93(T),0.0000(T),0.057,0.308075,2.73,-5.47,-0.481000,-1.690000,0.644000,0.012000,0.000000,0.001000,1.9037
synonymous_variant,WFIKKN1,SILENT,NM_053284.2:p.Pro9Pro/c.27G>T,ccG/ccT,LOW,COSM3754992(3),0.313299,0.62,rs4984905,,,,,,chr16,681280,681280,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro9Pro/c.27G>T|548|WFIKKN1|protein_coding|CODING|NM_053284.2|1|1),"HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:DNase1,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.3262,0.3833,0.2485,0.18,0.11,0.21,,,,,,,,,,,,,,,,
synonymous_variant,WFIKKN1,SILENT,NM_053284.2:p.Leu11Leu/c.31C>T,Ctg/Ttg,LOW,COSM435560(5),0.218251,0.0357,rs8062289,,,,,,chr16,681284,681284,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu11Leu/c.31C>T|548|WFIKKN1|protein_coding|CODING|NM_053284.2|1|1),"HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:DNase1,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.2822,0.0965,0.1859,0.24,0.35,0.19,,,,,,,,,,,,,,,,
missense_variant,WDR90,MISSENSE,NM_145294.4:p.Pro250Leu/c.749C>T,cCg/cTg,MODERATE,COSM435652(4),0.399361,0.6796,rs11642546,0.45(T),"0.036,0.013,0.035(B,B,B)",0.895(L),-0.9426(T),,chr16,701656,701656,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro250Leu/c.749C>T|1748|WDR90|protein_coding|CODING|NM_145294.4|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4182,0.4006,0.2594,0.23,0.24,0.23,,0.015155(U),1.000(P),"1.65,1.62(T,T)",0.0000(T),0.046,-0.415961,3.75,-7.51,0.506000,-1.506000,-1.804000,0.005000,0.000000,0.000000,2.8762
synonymous_variant,WDR90,SILENT,NM_145294.4:p.Arg529Arg/c.1587G>C,cgG/cgC,LOW,,0.000199681,0,rs200531845,,,,,,chr16,705337,705337,G,C,het,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg529Arg/c.1587G>C|1748|WDR90|protein_coding|CODING|NM_145294.4|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,,,,,,,,,,,,,,,,,,,
missense_variant,WDR90,MISSENSE,NM_145294.4:p.Val537Ala/c.1610T>C,gTg/gCg,MODERATE,,0.696685,0.9841,rs3803697,0.8(T),"0.0,0.0,0.0,0.001(B,B,B,B)",0.895(L),-1.0193(T),,chr16,705360,705360,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val537Ala/c.1610T>C|1748|WDR90|protein_coding|CODING|NM_145294.4|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5613,0.5965,0.3757,0.50,0.77,0.35,,0.830877(N),1.000(P),"1.8,1.76(T,T)",0.0000(T),0.031,-1.540982,4.67,-9.34,-2.865000,-3.437000,-0.586000,0.001000,0.000000,0.000000,1.8074
synonymous_variant,WDR90,SILENT,NM_145294.4:p.Leu641Leu/c.1921T>C,Ttg/Ctg,LOW,COSM4129273(1),0.693091,0.9841,rs8051645,,,,,,chr16,705844,705844,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu641Leu/c.1921T>C|1748|WDR90|protein_coding|CODING|NM_145294.4|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5613,0.5937,0.3767,0.50,0.77,0.36,,,,,,,,,,,,,,,,
synonymous_variant,WDR90,SILENT,NM_145294.4:p.Gln733Gln/c.2199G>A,caG/caA,LOW,COSM3755022(4),0.389177,0.6756,rs28485323,,,,,,chr16,706534,706534,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln733Gln/c.2199G>A|1748|WDR90|protein_coding|CODING|NM_145294.4|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3845,0.3948,0.2584,0.22,0.23,0.22,,,,,,,,,,,,,,,,
missense_variant,WDR90,MISSENSE,NM_145294.4:p.His899Gln/c.2697C>A,caC/caA,MODERATE,COSM3755024(3),0.340855,0.6766,rs45613635,0.6(T),"0.898,0.314(P,B)",1.655(L),-0.9405(T),,chr16,708275,708275,C,A,het,missense_variant(MODERATE|MISSENSE|caC/caA|p.His899Gln/c.2697C>A|1748|WDR90|protein_coding|CODING|NM_145294.4|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3834,0.3804,0.2565,0.19,0.11,0.23,,0.000100(U),0.000(P),"0.77,3.6(T,T)",0.0000(T),0.466,2.893432,5.28,3.07,0.555000,1.194000,0.623000,0.836000,0.998000,0.999000,5.1499
missense_variant,WDR90,MISSENSE,NM_145294.4:p.Pro1001Thr/c.3001C>A,Cct/Act,MODERATE,COSM3755025(2),0.703474,0.9802,rs4984906,0.69(T),"0.0,0.0(B,B)",0.315(N),-1.0126(T),,chr16,709001,709001,C,A,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro1001Thr/c.3001C>A|1748|WDR90|protein_coding|CODING|NM_145294.4|24|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5603,0.6052,0.3718,0.51,0.81,0.37,,0.171711(N),1.000(P),"0.7,1.54(T,T)",0.0000(T),0.046,-1.973176,4.79,-9.58,-3.030000,-2.099000,-1.228000,0.000000,0.000000,0.000000,6.7898
synonymous_variant,WDR90,SILENT,NM_145294.4:p.Gly1263Gly/c.3789C>T,ggC/ggT,LOW,COSM3755032(4),0.698283,0.9841,rs3177415,,,,,,chr16,711712,711712,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1263Gly/c.3789C>T|1748|WDR90|protein_coding|CODING|NM_145294.4|31|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5593,0.5951,0.3708,0.49,0.76,0.35,,,,,,,,,,,,,,,,
synonymous_variant,WDR90,SILENT,NM_145294.4:p.Pro1293Pro/c.3879A>G,ccA/ccG,LOW,COSM435709(3),0.699081,0.9841,rs2301426,,,,,,chr16,711905,711905,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1293Pro/c.3879A>G|1748|WDR90|protein_coding|CODING|NM_145294.4|32|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5593,0.5951,0.3708,0.49,0.76,0.35,,,,,,,,,,,,,,,,
missense_variant,WDR90,MISSENSE,NM_145294.4:p.Arg1492His/c.4475G>A,cGc/cAc,MODERATE,COSM3755037(5),0.701078,0.9841,rs7190775,0.16(T),"0.019,0.01,0.007,0.025(B,B,B,B)",1.61(L),-0.9510(T),,chr16,715990,715990,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1492His/c.4475G>A|1748|WDR90|protein_coding|CODING|NM_145294.4|36|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5695,0.5965,0.3738,0.48,0.74,0.34,,0.050883(N),1.000(P),"1.66,1.45,3.66,4.04(T,T,T,T)",0.0000(T),0.077,0.512413,4.45,-4.83,-0.218000,-1.499000,-1.108000,0.150000,0.000000,0.000000,1.9117
synonymous_variant,WDR90,SILENT,NM_145294.4:p.Pro1727Pro/c.5181G>T,ccG/ccT,LOW,COSM435723(4),0.70028,0.9841,rs3752493,0(D),,,-0.9988(T),,chr16,717523,717523,G,T,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro1727Pro/c.5181G>T|1748|WDR90|protein_coding|CODING|NM_145294.4|41|1),upstream_gene_variant(MODIFIER||560||618|RHOT2|protein_coding|CODING|NM_138769.2||1)","H1ESC:H3K36me3,CD4:H4K91ac,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5685,0.5951,0.3718,0.50,0.78,0.36,,,0.001(P),,0.0000(T),.,-0.057914,4.9,-9.79,-1.065000,-3.261000,-4.993000,0.143000,0.000000,0.000000,4.9016
synonymous_variant,RHOT2,SILENT,NM_138769.2:p.Thr41Thr/c.123C>G,acC/acG,LOW,COSM435726(7),0.546725,0.3175,rs7204542,,,,,,chr16,718514,718514,C,G,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr41Thr/c.123C>G|618|RHOT2|protein_coding|CODING|NM_138769.2|3|1),downstream_gene_variant(MODIFIER||685||1748|WDR90|protein_coding|CODING|NM_145294.4||1)","K562:ZBTB7A,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,GM12878:H3K79me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5767,0.5461,0.662,0.68,0.67,0.69,,,,,,,,,,,,,,,,
missense_variant,RHOT2,MISSENSE,NM_138769.2:p.Arg245Gln/c.734G>A,cGg/cAg,MODERATE,,0.326478,0.6845,rs1139897,0.02(D),"0.074,0.025(B,B)",0.205(N),-1.0972(T),,chr16,720986,720986,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg245Gln/c.734G>A|618|RHOT2|protein_coding|CODING|NM_138769.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.3646,0.2575,0.17,0.07,0.22,,0.000152(N),0.000(P),2.87(T),0.0000(T),0.062,1.899957,5.11,2.08,0.561000,0.189000,3.188000,0.230000,0.114000,0.987000,9.3233
missense_variant,RHOT2,MISSENSE,NM_138769.2:p.Arg425Cys/c.1273C>T,Cgt/Tgt,MODERATE,COSM3755059(2),0.66853,0.9891,rs3177338,0(D),0.893(P),2.865(M),-1.0852(T),,chr16,722331,722331,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg425Cys/c.1273C>T|618|RHOT2|protein_coding|CODING|NM_138769.2|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5521,0.5706,0.3787,0.48,0.71,0.36,,0.003413(N),0.000(P),-0.23(T),0.0000(T),0.349,2.924253,5.1,4.12,0.462000,1.103000,1.309000,0.075000,0.328000,0.003000,9.9376
synonymous_variant,RHOT2,SILENT,NM_138769.2:p.Gly462Gly/c.1386A>G,ggA/ggG,LOW,COSM435744(4),0.709665,0.997,rs1128550,,,,,,chr16,722548,722548,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly462Gly/c.1386A>G|618|RHOT2|protein_coding|CODING|NM_138769.2|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.5908,0.3797,0.51,0.81,0.36,,,,,,,,,,,,,,,,
synonymous_variant,WDR24,SILENT,NM_032259.2:p.Ala507Ala/c.1521A>G,gcA/gcG,LOW,COSM3755063(2),0.502596,0.7123,rs763053,,,,,,chr16,735921,735921,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala507Ala/c.1521A>G|790|WDR24|protein_coding|CODING|NM_032259.2|5|1),upstream_gene_variant(MODIFIER||1482||285|JMJD8|protein_coding|CODING|NM_001005920.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4151,0.4236,0.2674,0.33,0.54,0.23,,,,,,,,,,,,,,,,
synonymous_variant,WDR24,SILENT,NM_032259.2:p.Thr269Thr/c.807G>A,acG/acA,LOW,COSM3755066(2),0.0874601,0.002,rs17850290,,,,,,chr16,737269,737269,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr269Thr/c.807G>A|790|WDR24|protein_coding|CODING|NM_032259.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2382,0.0706,0.1461,0.12,0.03,0.16,,,,,,,,,,,,,,,,
synonymous_variant,FBXL16,SILENT,NM_153350.3:p.Val174Val/c.522T>G,gtT/gtG,LOW,COSM3755069(2),0.384185,0.7123,rs4984683,,,,,,chr16,746884,746884,A,C,het,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val174Val/c.522T>G|479|FBXL16|protein_coding|CODING|NM_153350.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,CD4:H2BK5me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4141,0.3833,0.2565,0.21,0.19,0.22,,,,,,,,,,,,,,,,
synonymous_variant,FBXL16,SILENT,NM_153350.3:p.Ala164Ala/c.492C>T,gcC/gcT,LOW,COSM435773(6),0.383187,0.7123,rs4984915,,,,,,chr16,746914,746914,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala164Ala/c.492C>T|479|FBXL16|protein_coding|CODING|NM_153350.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,CD4:H2BK5me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4141,0.3833,0.2535,0.21,0.19,0.22,,,,,,,,,,,,,,,,
synonymous_variant,FAM173A,SILENT,NM_023933.2:p.Asp4Asp/c.12C>T,gaC/gaT,LOW,COSM3765928(2),0.539537,0.5337,rs11540049,,,,,,chr16,771286,771286,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp4Asp/c.12C>T|218|FAM173A|protein_coding|CODING|NM_001271285.1|1|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp4Asp/c.12C>T|235|FAM173A|protein_coding|CODING|NM_023933.2|1|1),downstream_gene_variant(MODIFIER||1296||438|CCDC78|protein_coding|CODING|NM_001031737.2||1)","H1ESC:PolII,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,HUVEC:PolII,HepG2:Nrsf,GM12878:ETS1,H1ESC:H3K27me3,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,H1ESC:Gabp,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Gabp,K562:THAP1,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:TAF1,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Nrsf,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.7607,0.5144,0.4553,,,,,,,,,,,,,,,,,,,
missense_variant,CCDC78,MISSENSE,NM_001031737.2:p.Trp252Arg/c.754T>C,Tgg/Cgg,MODERATE,COSM4129375(1),0.700879,0.7966,rs2071950,1(T),"0.0,0.0(B,B)",-1.15(N),-0.9860(T),,chr16,774692,774692,A,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp252Arg/c.754T>C|438|CCDC78|protein_coding|CODING|NM_001031737.2|8|1),"K562:PolII,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,GM12878:PolII,GM06990:H3K36me3",,RCV000116603.1,,0.8599,0.6239,0.498,0.54,0.66,0.47,,0.392234(N),1.000(P),1.68(T),0.0000(T),0.526,-1.112714,5.41,1.78,-0.370000,0.212000,-0.646000,0.013000,0.000000,0.000000,8.8396
synonymous_variant,HAGHL,SILENT,NM_001290137.1:p.His55His/c.165T>C,caT/caC,LOW,COSM435809(2),0.513978,0.7579,rs1406814,,,,,,chr16,778024,778024,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His55His/c.165T>C|282|HAGHL|protein_coding|CODING|NM_001290137.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His55His/c.165T>C|282|HAGHL|protein_coding|CODING|NM_001290139.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His55His/c.165T>C|282|HAGHL|protein_coding|CODING|NM_032304.3|2|1),upstream_gene_variant(MODIFIER||1551||438|CCDC78|protein_coding|CODING|NM_001031737.2||1),downstream_gene_variant(MODIFIER||1745||476|NARFL|protein_coding|CODING|NM_022493.1||1)","K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,HeLa-S3:H3K4me3,HeLa-S3:E2F1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.4591,0.4928,0.2425,0.31,0.51,0.21,,,,,,,,,,,,,,,,
synonymous_variant,HAGHL,SILENT,NM_001290137.1:p.Pro71Pro/c.213C>G,ccC/ccG,LOW,COSM3755095(1),0.447284,0.7579,rs1406815,,,,,,chr16,778158,778158,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro71Pro/c.213C>G|282|HAGHL|protein_coding|CODING|NM_001290137.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro71Pro/c.213C>G|282|HAGHL|protein_coding|CODING|NM_001290139.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro71Pro/c.213C>G|282|HAGHL|protein_coding|CODING|NM_032304.3|3|1),upstream_gene_variant(MODIFIER||1685||438|CCDC78|protein_coding|CODING|NM_001031737.2||1),downstream_gene_variant(MODIFIER||1611||476|NARFL|protein_coding|CODING|NM_022493.1||1)","HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM12878:H3K4me3,HeLa-S3:Max,CD4:DNase1,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HeLa-S3:H3K4me3,HMEC:DNase1,HeLa-S3:E2F1,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.4591,0.4784,0.2396,,,,,,,,,,,,,,,,,,,
synonymous_variant,HAGHL,SILENT,NM_001290137.1:p.Thr175Thr/c.525G>A,acG/acA,LOW,COSM3755097(2),0.394369,0.7569,rs12448432,,0.008(B),,-0.9824(T),,chr16,778820,778820,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr175Thr/c.525G>A|282|HAGHL|protein_coding|CODING|NM_001290137.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr175Thr/c.525G>A|282|HAGHL|protein_coding|CODING|NM_001290139.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr175Thr/c.525G>A|282|HAGHL|protein_coding|CODING|NM_032304.3|6|1),downstream_gene_variant(MODIFIER||949||476|NARFL|protein_coding|CODING|NM_022493.1||1)","K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:Cmyc,CD4:H2BK5me1,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1",,,,0.454,0.4625,0.2376,0.18,0.13,0.21,,,0.000(P),-2.21(D),0.0000(T),.,2.712967,4.27,-8.21,-0.258000,-1.455000,-1.023000,0.426000,0.002000,0.002000,1.828
synonymous_variant,NARFL,SILENT,NM_022493.1:p.His322His/c.966C>T,caC/caT,LOW,COSM1178439(1),0.38099,0.7599,rs3829492,,,,,,chr16,781633,781633,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His322His/c.966C>T|476|NARFL|protein_coding|CODING|NM_022493.1|9|1),downstream_gene_variant(MODIFIER||1918||282|HAGHL|protein_coding|CODING|NM_001290137.1||1),downstream_gene_variant(MODIFIER||1918||282|HAGHL|protein_coding|CODING|NM_001290139.1||1),downstream_gene_variant(MODIFIER||1918||282|HAGHL|protein_coding|CODING|NM_032304.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.453,0.4539,0.2147,0.16,0.11,0.18,,,,,,,,,,,,,,,,
synonymous_variant,NARFL,SILENT,NM_022493.1:p.Ala182Ala/c.546G>A,gcG/gcA,LOW,COSM435815(3),0.376597,0.6736,rs9928077,0.11(T),0.169(B),,-1.0473(T),,chr16,784765,784765,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala182Ala/c.546G>A|476|NARFL|protein_coding|CODING|NM_022493.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.456,0.464,0.2406,0.18,0.13,0.21,,,0.000(P),1.53(T),0.0000(T),.,1.375962,4.79,3.84,-0.299000,1.020000,1.588000,0.135000,0.983000,0.999000,9.771
synonymous_variant,MSLN,SILENT,NM_013404.4:p.Ala46Ala/c.138G>A,gcG/gcA,LOW,COSM3773762(1),0.144569,0.3006,rs3765319,,,,,,chr16,813650,813650,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala46Ala/c.138G>A|622|MSLN|protein_coding|CODING|NM_001177355.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala46Ala/c.138G>A|622|MSLN|protein_coding|CODING|NM_005823.5|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala46Ala/c.138G>A|630|MSLN|protein_coding|CODING|NM_013404.4|4|1)","H1ESC:H3K36me3,IMR90:H3K27me3",,,,0.1299,0.1153,0.1501,0.15,0.07,0.19,,,,,,,,,,,,,,,,
missense_variant,MSLN,MISSENSE,NM_013404.4:p.Met601Val/c.1801A>G,Atg/Gtg,MODERATE,COSM435843(3),0.353435,0.3115,rs1135210,0.7(T),"0.0,0.0,0.0(B,B,B)",-1.61(N),-0.9465(T),,chr16,818559,818559,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met593Val/c.1777A>G|622|MSLN|protein_coding|CODING|NM_001177355.1|17|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met593Val/c.1777A>G|622|MSLN|protein_coding|CODING|NM_005823.5|17|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met601Val/c.1801A>G|630|MSLN|protein_coding|CODING|NM_013404.4|16|1),upstream_gene_variant(MODIFIER||1624|||MIR662||NON_CODING|NR_030384.1||1)","HeLa-S3:DNase1,H1ESC:DNase1,HeLa-S3:Ap2gamma,HepG2:DNase1,NHEK:DNase1",,,,0.2556,0.2968,0.1978,0.32,0.51,0.23,,0.461970(N),1.000(P),"3.04,3.04(T,T)",0.0000(T),0.223,-1.869221,3.27,-6.54,-2.568000,-1.745000,-0.235000,0.001000,0.000000,0.000000,3.2179
missense_variant,CHTF18,MISSENSE,NM_022092.2:p.Gln82Pro/c.245A>C,cAg/cCg,MODERATE,COSM3749381(2),0.138179,0.2431,rs2277901,0.31(T),"0.002,0.001,0.0(B,B,B)",0.895(L),-0.9377(T),,chr16,839084,839084,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln82Pro/c.245A>C|975|CHTF18|protein_coding|CODING|NM_022092.2|2|1),upstream_gene_variant(MODIFIER||701||312|RPUSD1|protein_coding|CODING|NM_058192.2||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.1984,0.111,0.159,0.10,0.02,0.13,,0.000158(N),1.000(P),"2.85,2.86,2.9(T,T,T)",0.0000(T),0.048,0.452250,2.74,-2.32,-1.252000,-0.599000,-1.372000,0.014000,0.000000,0.000000,5.8924
synonymous_variant,CHTF18,SILENT,NM_022092.2:p.Arg113Arg/c.339A>G,agA/agG,LOW,,0.997005,1,rs569951,,,,,,chr16,839262,839262,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg113Arg/c.339A>G|975|CHTF18|protein_coding|CODING|NM_022092.2|3|1),upstream_gene_variant(MODIFIER||879||312|RPUSD1|protein_coding|CODING|NM_058192.2||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.9949,1,0.9901,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,LMF1,SILENT,NM_022773.2:p.Ala252Ala/c.756G>A,gcG/gcA,LOW,,0.177117,0.3026,rs2076425,,,,,,chr16,929711,929711,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala252Ala/c.756G>A|567|LMF1|protein_coding|CODING|NM_022773.2|6|1),non_coding_exon_variant(MODIFIER|||n.889G>A||LMF1||NON_CODING|NR_033645.1|7|1),non_coding_exon_variant(MODIFIER|||n.1067G>A||LMF1||CODING|NR_033646.1|8|1)",K562:H3K27me3,,,,0.1472,0.0735,0.1113,0.13,0.18,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SOX8,SILENT,NM_014587.4:p.Asn263Asn/c.789T>C,aaT/aaC,LOW,,1,1,rs237674,,,,,,chr16,1034834,1034834,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn263Asn/c.789T>C|446|SOX8|protein_coding|CODING|NM_014587.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,SOX8,SILENT,NM_014587.4:p.Tyr303Tyr/c.909T>C,taT/taC,LOW,COSM3754598(4),0.343051,0.1052,rs11542178,,,,,,chr16,1034954,1034954,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr303Tyr/c.909T>C|446|SOX8|protein_coding|CODING|NM_014587.4|3|1),"H1ESC:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3466,0.2867,0.3091,0.37,0.56,0.28,,,,,,,,,,,,,,,,
synonymous_variant,SSTR5,SILENT,NM_001053.3:p.Pro348Pro/c.1044A>G,ccA/ccG,LOW,COSM3754608(6),0.9377,0.9405,rs642249,,,,,,chr16,1129912,1129912,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro348Pro/c.1044A>G|364|SSTR5|protein_coding|CODING|NM_001053.3|1|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro348Pro/c.1044A>G|364|SSTR5|protein_coding|CODING|NM_001172560.1|2|1),upstream_gene_variant(MODIFIER||1181|||SSTR5-AS1||NON_CODING|NR_027242.1||1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8681,0.9841,0.9771,0.96,0.94,0.97,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1H,SILENT,NM_021098.2:p.Asp1319Asp/c.3957T>C,gaT/gaC,LOW,COSM4128659(1),0.919928,1,rs8063574,,,,,,chr16,1260481,1260481,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1319Asp/c.3957T>C|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|19|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1319Asp/c.3957T>C|2353|CACNA1H|protein_coding|CODING|NM_021098.2|19|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000082071.1,,0.9601,0.8501,0.826,0.85,0.91,0.81,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1H,SILENT,NM_021098.2:p.Ser1425Ser/c.4275A>G,tcA/tcG,LOW,COSM3765849(2),0.709665,0.869,rs2753326,,,,,,chr16,1261219,1261219,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1425Ser/c.4275A>G|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|22|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1425Ser/c.4275A>G|2353|CACNA1H|protein_coding|CODING|NM_021098.2|22|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.5573,0.719,0.6372,0.64,0.73,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1H,SILENT,NM_021098.2:p.Ser1426Ser/c.4278A>G,tcA/tcG,LOW,COSM3765854(2),0.709665,0.869,rs2753325,,,,,,chr16,1261222,1261222,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1426Ser/c.4278A>G|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|22|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1426Ser/c.4278A>G|2353|CACNA1H|protein_coding|CODING|NM_021098.2|22|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.5573,0.719,0.6372,0.64,0.73,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1H,SILENT,NM_021098.2:p.Ile1446Ile/c.4338T>C,atT/atC,LOW,COSM3765857(2),0.917732,1,rs4984637,,,,,,chr16,1261282,1261282,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile1446Ile/c.4338T>C|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|22|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile1446Ile/c.4338T>C|2353|CACNA1H|protein_coding|CODING|NM_021098.2|22|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.9601,0.8487,0.8231,0.85,0.91,0.82,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1H,SILENT,NM_021098.2:p.Asp1910Asp/c.5730C>T,gaC/gaT,LOW,COSM434641(2),0.699081,0.8661,rs2745136,,,,,,chr16,1268494,1268494,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1904Asp/c.5712C>T|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|32|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1910Asp/c.5730C>T|2353|CACNA1H|protein_coding|CODING|NM_021098.2|33|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.5552,0.7075,0.6441,0.65,0.72,0.62,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1H,SILENT,NM_021098.2:p.Leu1983Leu/c.5947T>C,Ttg/Ctg,LOW,,0.691693,0.8681,rs2738893,,,,,,chr16,1269029,1269029,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1977Leu/c.5929T>C|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|33|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1983Leu/c.5947T>C|2353|CACNA1H|protein_coding|CODING|NM_021098.2|34|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.5552,0.7075,0.6441,0.66,0.70,0.64,,,,,,,,,,,,,,,,
missense_variant,CACNA1H,MISSENSE,NM_021098.2:p.Arg2077His/c.6230G>A,cGc/cAc,MODERATE,COSM3754643(3),0.700679,0.8681,rs1054645,0.3(T),"0.001,0.0(B,B)",-0.895(N),-1.0482(T),,chr16,1270162,1270162,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2071His/c.6212G>A|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|34|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg2077His/c.6230G>A|2353|CACNA1H|protein_coding|CODING|NM_021098.2|35|1),downstream_gene_variant(MODIFIER||1489||321|TPSG1|protein_coding|CODING|NM_012467.3||1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,RCV000082076.1,,0.547,0.7075,0.6441,0.65,0.73,0.61,,,1.000(P),"1.43,1.43(T,T)",0.0000(T),0.231,0.689039,4.02,0.758,0.306000,0.095000,-0.663000,0.169000,0.956000,0.000000,8.2472
synonymous_variant,CACNA1H,SILENT,NM_021098.2:p.Asp2139Asp/c.6417T>C,gaT/gaC,LOW,COSM3749326(11),0.913938,0.999,rs4247094,,,,,,chr16,1270349,1270349,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2133Asp/c.6399T>C|2347|CACNA1H|protein_coding|CODING|NM_001005407.1|34|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2139Asp/c.6417T>C|2353|CACNA1H|protein_coding|CODING|NM_021098.2|35|1),downstream_gene_variant(MODIFIER||1302||321|TPSG1|protein_coding|CODING|NM_012467.3||1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,RCV000082078.1,,0.9448,0.8401,0.827,0.86,0.92,0.83,,,,,,,,,,,,,,,,
missense_variant,TPSG1,MISSENSE,NM_012467.3:p.Thr239Ile/c.716C>T,aCt/aTt,MODERATE,COSM434650(1),0.877596,0.998,rs11248860,1(T),0.0(B),-3.05(N),-0.9422(T),,chr16,1272038,1272038,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr239Ile/c.716C>T|321|TPSG1|protein_coding|CODING|NM_012467.3|6|1),downstream_gene_variant(MODIFIER||266||2347|CACNA1H|protein_coding|CODING|NM_001005407.1||1),downstream_gene_variant(MODIFIER||266||2353|CACNA1H|protein_coding|CODING|NM_021098.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8916,0.8026,0.7714,0.79,0.87,0.75,,,1.000(P),-2.51(D),0.0000(T),0.23,-2.369950,4.1,4.1,-0.288000,0.521000,3.120000,0.044000,0.023000,0.026000,8.0662
synonymous_variant,TPSG1,SILENT,NM_012467.3:p.Leu100Leu/c.298C>T,Ctg/Ttg,LOW,,0.797923,0.8988,rs4984639,,,,,,chr16,1272865,1272865,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu100Leu/c.298C>T|321|TPSG1|protein_coding|CODING|NM_012467.3|4|1),downstream_gene_variant(MODIFIER||1093||2347|CACNA1H|protein_coding|CODING|NM_001005407.1||1),downstream_gene_variant(MODIFIER||1093||2353|CACNA1H|protein_coding|CODING|NM_021098.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8436,0.768,0.7565,0.73,0.73,0.73,,,,,,,,,,,,,,,,
missense_variant,TPSAB1,MISSENSE,NM_003294.3:p.Thr141Ala/c.421A>G,Acc/Gcc,MODERATE,COSM3817206(2),0.201478,0.1171,rs149113013,0.24(T),"0.001,0.001(B,B)",-0.37(N),-1.0825(T),,chr16,1291622,1291622,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr141Ala/c.421A>G|275|TPSAB1|protein_coding|CODING|NM_003294.3|4|1),"H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1339,0.2695,0.1918,,,,,0.771165(N),0.998(P),"-1.44,-1.44(T,T)",0.0000(T),0.399,-1.071903,3.74,0.17,0.392000,0.161000,0.545000,0.169000,0.458000,0.000000,7.8036
missense_variant,TPSAB1,MISSENSE,NM_003294.3:p.Asp162Asn/c.484G>A,Gat/Aat,MODERATE,COSM4128681(3),0.0259585,0,rs143210825,0.74(T),"0.033,0.056(B,B)",0.295(N),-0.8755(T),,chr16,1291685,1291685,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp162Asn/c.484G>A|275|TPSAB1|protein_coding|CODING|NM_003294.3|4|1),"H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0542,0.0303,0.0527,0.04,0.01,0.06,,0.085431(N),1.000(N),"-2.27,-2.27(D,D)",0.0485(T),0.146,-0.450958,3.21,-2.67,0.479000,-0.398000,-0.998000,0.337000,0.000000,0.000000,8.8642
missense_variant,TPSD1,MISSENSE,NM_012217.2:p.Val25Ala/c.74T>C,gTg/gCg,MODERATE,COSM1563251(1),0.71865,0.9484,rs1800984,1(T),0.0(B),-0.695(N),-0.9803(T),,chr16,1306355,1306355,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val25Ala/c.74T>C|242|TPSD1|protein_coding|CODING|NM_012217.2|1|1),"H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6421,0.6542,0.5577,0.60,0.71,0.55,,0.651704(N),1.000(P),"-1.47,-1.47(T,T)",0.0000(T),0.15,-0.737258,2.55,-3.13,-1.137000,-0.826000,-1.814000,0.008000,0.000000,0.000000,3.4489
synonymous_variant,TPSD1,SILENT,NM_012217.2:p.Thr146Thr/c.438G>A,acG/acA,LOW,COSM3754655(1),0.247404,0.122,rs2272971,,,,,,chr16,1306981,1306981,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr146Thr/c.438G>A|242|TPSD1|protein_coding|CODING|NM_012217.2|3|1),"H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1472,0.3343,0.2187,0.26,0.35,0.21,,,,,,,,,,,,,,,,
missense_variant,BAIAP3,MISSENSE,NM_001286464.1:p.Pro87Thr/c.259C>A,Ccc/Acc,MODERATE,COSM4128687(2),0.95627,1,rs7202563,0.6(T),0.039(B),,-0.9627(T),,chr16,1389153,1389153,C,A,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro87Thr/c.259C>A|1169|BAIAP3|protein_coding|CODING|NM_001286464.1|4|1),intron_variant(MODIFIER|||c.220-12C>A|1116|BAIAP3|protein_coding|CODING|NM_001199096.1|3|1),intron_variant(MODIFIER|||c.220-12C>A|1152|BAIAP3|protein_coding|CODING|NM_001199097.1|3|1),intron_variant(MODIFIER|||c.220-12C>A|1129|BAIAP3|protein_coding|CODING|NM_001199098.1|3|1),intron_variant(MODIFIER|||c.220-12C>A|1124|BAIAP3|protein_coding|CODING|NM_001199099.1|3|1),intron_variant(MODIFIER|||c.325-12C>A|1187|BAIAP3|protein_coding|CODING|NM_003933.4|3|1)","H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9315,0.9409,0.9225,0.94,0.97,0.92,,,1.000(P),"-0.47,-0.47(T,T)",0.0000(T),0.14,1.999996,3.43,1.43,0.484000,0.743000,-1.047000,0.348000,0.025000,0.000000,4.6223
missense_variant,BAIAP3,MISSENSE,NM_003933.4:p.Asp582Ala/c.1745A>C,gAc/gCc,MODERATE,COSM4128689(1),0.951078,1,rs1132356,0.57(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-0.9783(T),,chr16,1394507,1394507,A,C,hom,"missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp511Ala/c.1532A>C|1116|BAIAP3|protein_coding|CODING|NM_001199096.1|17|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp547Ala/c.1640A>C|1152|BAIAP3|protein_coding|CODING|NM_001199097.1|18|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp524Ala/c.1571A>C|1129|BAIAP3|protein_coding|CODING|NM_001199098.1|18|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp519Ala/c.1556A>C|1124|BAIAP3|protein_coding|CODING|NM_001199099.1|18|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp564Ala/c.1691A>C|1169|BAIAP3|protein_coding|CODING|NM_001286464.1|18|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp582Ala/c.1745A>C|1187|BAIAP3|protein_coding|CODING|NM_003933.4|18|1)","H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.9284,0.938,0.9016,0.92,0.97,0.90,,0.735663(N),1.000(P),"-0.47,-0.47,-0.47,-0.47,-0.47(T,T,T,T,T)",0.0000(T),0.042,-1.843676,4.17,3.1,-0.323000,0.868000,0.765000,0.012000,0.094000,0.000000,6.1235
synonymous_variant,UNKL,SILENT,NM_001276414.1:p.Leu21Leu/c.61T>C,Ttg/Ctg,LOW,COSM4128691(1),0.967452,1,rs11248874,,,,,,chr16,1419947,1419947,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu21Leu/c.61T>C|229|UNKL|protein_coding|CODING|NM_001276414.1|3|1),intron_variant(MODIFIER|||c.1585+184T>C|683|UNKL|protein_coding|CODING|NM_001193388.3|12|1),intron_variant(MODIFIER|||c.82+184T>C|182|UNKL|protein_coding|CODING|NM_001193389.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9652,0.951,0.9364,0.94,0.97,0.93,,,,,,,,,,,,,,,,
synonymous_variant,UNKL,SILENT,NM_001193388.3:p.Pro373Pro/c.1119G>A,ccG/ccA,LOW,,,,,,,,,,chr16,1435354,1435354,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro373Pro/c.1119G>A|683|UNKL|protein_coding|CODING|NM_001193388.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,UNKL,SILENT,NM_001193388.3:p.Thr19Thr/c.57T>G,acT/acG,LOW,COSM3754661(8),0.952875,1,rs111437424,,,,,,chr16,1464636,1464636,A,C,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr19Thr/c.57T>G|277|UNKL|protein_coding|CODING|NM_001037125.3|1|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr19Thr/c.57T>G|683|UNKL|protein_coding|CODING|NM_001193388.3|1|1)","K562:ZBTB7A,NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,CD4:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.955,0.9222,0.8966,0.92,0.96,0.90,,,,,,,,,,,,,,,,
missense_variant,CCDC154,MISSENSE,NM_001143980.1:p.Leu647Pro/c.1940T>C,cTg/cCg,MODERATE,COSM4128700(1),0.967652,0.998,rs7192331,0.29(T),0.0(B),0(N),-1.0318(T),,chr16,1484473,1484473,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu647Pro/c.1940T>C|667|CCDC154|protein_coding|CODING|NM_001143980.1|17|1),"GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9714,0.9438,0.9384,0.94,0.97,0.93,,,1.000(P),,0.0000(T),0.023,0.675886,4.2,-2.89,-0.642000,-0.439000,-1.708000,0.201000,0.000000,0.000000,6.4987
missense_variant,TELO2,MISSENSE,NM_016111.3:p.Gln146Arg/c.437A>G,cAg/cGg,MODERATE,COSM3754693(3),0.463658,0.5724,rs2235624,0.48(T),0.052(B),0(N),-1.0034(T),,chr16,1545448,1545448,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln146Arg/c.437A>G|837|TELO2|protein_coding|CODING|NM_016111.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4018,0.6556,0.6153,0.48,0.27,0.60,,0.549007(N),1.000(P),-1.74(D),0.0000(T),0.032,0.008978,5.33,-2.64,-1.063000,-0.281000,0.588000,0.010000,0.004000,0.006000,7.4525
synonymous_variant,TELO2,SILENT,NM_016111.3:p.Ala805Ala/c.2415T>C,gcT/gcC,LOW,COSM3754698(2),0.421725,0.4226,rs3180228,,,,,,chr16,1559838,1559838,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala805Ala/c.2415T>C|837|TELO2|protein_coding|CODING|NM_016111.3|21|1),downstream_gene_variant(MODIFIER||590||1462|IFT140|protein_coding|CODING|NM_014714.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3896,0.2147,0.2455,0.38,0.62,0.26,,,,,,,,,,,,,,,,
synonymous_variant,IFT140,SILENT,NM_014714.3:p.Ala973Ala/c.2919C>T,gcC/gcT,LOW,COSM3754700(1),0.23103,0.3214,rs2235640,,,,,,chr16,1574863,1574863,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala973Ala/c.2919C>T|1462|IFT140|protein_coding|CODING|NM_014714.3|23|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,RCV000117259.2,,0.2628,0.1268,0.171,0.19,0.21,0.18,,,,,,,,,,,,,,,,
synonymous_variant,TMEM204,SILENT,NM_001256541.1:p.Thr107Thr/c.321G>A,acG/acA,LOW,COSM434706(3),0.30631,0.3423,rs2076443,,,,,,chr16,1591962,1591962,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr107Thr/c.321G>A|226|TMEM204|protein_coding|CODING|NM_001256541.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr107Thr/c.321G>A|226|TMEM204|protein_coding|CODING|NM_024600.5|2|1),intron_variant(MODIFIER|||c.2400-15165C>T|1462|IFT140|protein_coding|CODING|NM_014714.3|19|1)","HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3",,,,0.3333,0.1599,0.1918,0.25,0.36,0.19,,,,,,,,,,,,,,,,
synonymous_variant,IFT140,SILENT,NM_014714.3:p.Pro751Pro/c.2253T>C,ccT/ccC,LOW,COSM148006(1),0.347444,0.3433,rs2076436,,,,,,chr16,1608082,1608082,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro751Pro/c.2253T>C|1462|IFT140|protein_coding|CODING|NM_014714.3|19|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000117258.2,,0.3354,0.1844,0.2087,0.31,0.49,0.22,,,,,,,,,,,,,,,,
synonymous_variant,IFT140,SILENT,NM_014714.3:p.Ser656Ser/c.1968T>C,agT/agC,LOW,COSM3754702(1),0.505192,0.5675,rs386432765,,,,,,chr16,1614097,1614097,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser656Ser/c.1968T>C|1462|IFT140|protein_coding|CODING|NM_014714.3|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000117257.2,,0.4458,0.3934,0.2982,0.42,0.64,0.31,,,,,,,,,,,,,,,,
synonymous_variant,CRAMP1L,SILENT,NM_020825.3:p.Asp97Asp/c.291T>C,gaT/gaC,LOW,COSM3754713(4),0.701078,0.7371,rs7201813,,,,,,chr16,1664931,1664931,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp97Asp/c.291T>C|1269|CRAMP1L|protein_coding|CODING|NM_020825.3|1|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7352,0.6383,0.4016,,,,,,,,,,,,,,,,,,,
synonymous_variant,CRAMP1L,SILENT,NM_020825.3:p.Ala203Ala/c.609A>G,gcA/gcG,LOW,COSM434722(2),0.453874,0.5605,rs3169425,,,,,,chr16,1682281,1682281,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala203Ala/c.609A>G|1269|CRAMP1L|protein_coding|CODING|NM_020825.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4039,0.3386,0.173,0.31,0.58,0.18,,,,,,,,,,,,,,,,
synonymous_variant,MAPK8IP3,SILENT,NM_015133.3:p.Ser255Ser/c.765C>T,tcC/tcT,LOW,COSM3754718(2),0.0854633,0.0843,rs2294613,,,,,,chr16,1797050,1797050,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser255Ser/c.765C>T|1330|MAPK8IP3|protein_coding|CODING|NM_001040439.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser255Ser/c.765C>T|1336|MAPK8IP3|protein_coding|CODING|NM_015133.3|6|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1033,0.0476,0.0905,0.09,0.10,0.09,,,,,,,,,,,,,,,,
synonymous_variant,MAPK8IP3,SILENT,NM_015133.3:p.Gly1255Gly/c.3765G>C,ggG/ggC,LOW,COSM3749338(4),0.762181,0.6448,rs2076431,,,,,,chr16,1818503,1818503,G,C,hom,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1249Gly/c.3747G>C|1330|MAPK8IP3|protein_coding|CODING|NM_001040439.1|30|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1255Gly/c.3765G>C|1336|MAPK8IP3|protein_coding|CODING|NM_015133.3|31|1),downstream_gene_variant(MODIFIER||1818||169|NME3|protein_coding|CODING|NM_002513.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6779,0.8732,0.7873,0.82,0.84,0.81,,,,,,,,,,,,,,,,
synonymous_variant,EME2,SILENT,NM_001257370.1:p.Val72Val/c.216C>G,gtC/gtG,LOW,COSM3749342(3),0.336062,0.2808,rs761065,,,,,,chr16,1823444,1823444,C,G,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val72Val/c.216C>G|379|EME2|protein_coding|CODING|NM_001257370.1|1|1),upstream_gene_variant(MODIFIER||1734||169|NME3|protein_coding|CODING|NM_002513.2||1),upstream_gene_variant(MODIFIER||304||225|MRPS34|protein_coding|CODING|NM_001300900.1||1),upstream_gene_variant(MODIFIER||304||218|MRPS34|protein_coding|CODING|NM_023936.1||1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:H3K9ac,H1ESC:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:CTCFL,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:Yy1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.3783,0.4885,0.5666,0.42,0.14,0.54,,,,,,,,,,,,,,,,
synonymous_variant,SPSB3,SILENT,NM_080861.3:p.Ser329Ser/c.987C>G,tcC/tcG,LOW,,,,rs137926807,,,,,,chr16,1827179,1827179,G,C,hom,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser329Ser/c.987C>G|355|SPSB3|protein_coding|CODING|NM_080861.3|7|1),downstream_gene_variant(MODIFIER||940||379|EME2|protein_coding|CODING|NM_001257370.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,SPSB3,MISSENSE,NM_080861.3:p.Ser329Cys/c.986C>G,tCc/tGc,MODERATE,,,,rs149477898,0.24(T),0.283(B),0.895(L),-1.0502(T),,chr16,1827180,1827180,G,C,hom,"missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser329Cys/c.986C>G|355|SPSB3|protein_coding|CODING|NM_080861.3|7|1),downstream_gene_variant(MODIFIER||941||379|EME2|protein_coding|CODING|NM_001257370.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.235860(N),1.000(N),0.85(T),0.0909(T),0.083,2.962269,3.83,3.83,0.462000,1.679000,5.106000,0.001000,0.002000,0.932000,14.3127
synonymous_variant,SPSB3,SILENT,NM_080861.3:p.Ser211Ser/c.633A>G,tcA/tcG,LOW,COSM4128747(1),0.852835,0.7391,rs1178432,,,,,,chr16,1827836,1827836,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser211Ser/c.633A>G|355|SPSB3|protein_coding|CODING|NM_080861.3|6|1),downstream_gene_variant(MODIFIER||1597||379|EME2|protein_coding|CODING|NM_001257370.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7577,0.9179,0.8588,0.90,0.95,0.87,,,,,,,,,,,,,,,,
synonymous_variant,NUBP2,SILENT,NM_012225.3:p.Ile58Ile/c.174C>A,atC/atA,LOW,COSM434733(4),0.49401,0.4097,rs2235648,,,,,,chr16,1836796,1836796,C,A,hom,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile58Ile/c.174C>A|271|NUBP2|protein_coding|CODING|NM_012225.3|3|1),5_prime_UTR_variant(MODIFIER||7|c.-7C>A|211|NUBP2|protein_coding|CODING|NM_001284501.1|4|1),intron_variant(MODIFIER|||c.-90+140C>A|222|NUBP2|protein_coding|CODING|NM_001284502.1|2|1),intron_variant(MODIFIER|||n.233+140C>A||NUBP2||CODING|NR_104318.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.6095,0.5885,0.59,0.55,0.60,,,,,,,,,,,,,,,,
missense_variant,NUBP2,MISSENSE,NM_001284502.1:p.Trp99Arg/c.295T>C,Tgg/Cgg,MODERATE,,0.822883,0.7232,rs344359,,,,,,chr16,1838640,1838640,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp99Arg/c.295T>C|222|NUBP2|protein_coding|CODING|NM_001284502.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro187Pro/c.561T>C|211|NUBP2|protein_coding|CODING|NM_001284501.1|8|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro247Pro/c.741T>C|271|NUBP2|protein_coding|CODING|NM_012225.3|7|1),downstream_gene_variant(MODIFIER||1774||643|IGFALS|protein_coding|CODING|NM_001146006.1||1),downstream_gene_variant(MODIFIER||1774||605|IGFALS|protein_coding|CODING|NM_004970.2||1),downstream_gene_variant(MODIFIER||1774|||IGFALS||CODING|NR_027389.1||1),non_coding_exon_variant(MODIFIER|||n.640T>C||NUBP2||CODING|NR_104318.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7853,0.7896,0.8022,0.86,0.93,0.82,,,,,,,,,,,,,,,,
missense_variant,NUBP2,MISSENSE,NM_001284502.1:p.Pro164Arg/c.491C>G,cCg/cGg,MODERATE,,0.669529,0.5595,rs1065656,,,,,,chr16,1838836,1838836,C,G,hom,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro164Arg/c.491C>G|222|NUBP2|protein_coding|CODING|NM_001284502.1|6|1),3_prime_UTR_variant(MODIFIER||121|c.*121C>G|211|NUBP2|protein_coding|CODING|NM_001284501.1|8|1),3_prime_UTR_variant(MODIFIER||121|c.*121C>G|271|NUBP2|protein_coding|CODING|NM_012225.3|7|1),downstream_gene_variant(MODIFIER||1578||643|IGFALS|protein_coding|CODING|NM_001146006.1||1),downstream_gene_variant(MODIFIER||1578||605|IGFALS|protein_coding|CODING|NM_004970.2||1),downstream_gene_variant(MODIFIER||1578|||IGFALS||CODING|NR_027389.1||1),non_coding_exon_variant(MODIFIER|||n.836C>G||NUBP2||CODING|NR_104318.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",Insulin_like_growth_factors,,,0.6094,0.6902,0.6759,,,,,,,,,,,,,,,,,,,
synonymous_variant,IGFALS,SILENT,NM_001146006.1:p.Asp108Asp/c.324T>C,gaT/gaC,LOW,COSM434736(8),0.784145,0.7272,rs3751893,,,,,,chr16,1842209,1842209,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp70Asp/c.210T>C|605|IGFALS|protein_coding|CODING|NM_004970.2|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp108Asp/c.324T>C|643|IGFALS|protein_coding|CODING|NM_001146006.1|2|1),non_coding_exon_variant(MODIFIER|||n.264T>C||IGFALS||CODING|NR_027389.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7802,0.7781,0.8032,0.82,0.82,0.82,,,,,,,,,,,,,,,,
missense_variant,MEIOB,MISSENSE,NM_001163560.2:p.Thr18Pro/c.52A>C,Aca/Cca,MODERATE,,0.8125,0.8165,rs1742446,1(T),"0.0,0.0(B,B)",-1.935(N),-0.9579(T),,chr16,1918125,1918125,T,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr18Pro/c.52A>C|471|MEIOB|protein_coding|CODING|NM_001163560.2|2|1),missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr18Pro/c.52A>C|442|MEIOB|protein_coding|CODING|NM_152764.2|2|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.82,0.7767,0.826,0.84,0.82,0.85,,0.881892(N),0.000(P),"2.37,2.37,2.37,2.37(T,T,T,T)",0.0000(T),0.2,-1.435777,5.03,5.03,-0.121000,1.261000,4.123000,0.360000,0.945000,1.000000,12.7797
missense_variant,RPL3L,MISSENSE,NM_005061.2:p.Val262Met/c.784G>A,Gtg/Atg,MODERATE,,0.0211661,0.0248,rs113956264,0(D),0.986(D),3.455(M),0.0283(D),,chr16,1997004,1997004,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val262Met/c.784G>A|407|RPL3L|protein_coding|CODING|NM_005061.2|6|1),HepG2:H3K27me3,,,,0.0327,0.0231,0.0288,0.02,0.00,0.03,,0.000000(D),1.000(D),-0.12(T),0.3007(T),0.612,3.390711,4.92,4.92,0.655000,2.423000,7.729000,0.029000,0.940000,1.000000,17.4758
synonymous_variant,RPS2,SILENT,NM_002952.3:p.Pro87Pro/c.261T>C,ccT/ccC,LOW,,0.86262,0.8681,rs2286466,,,,,,chr16,2014283,2014283,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro87Pro/c.261T>C|293|RPS2|protein_coding|CODING|NM_002952.3|3|1),upstream_gene_variant(MODIFIER||1816|||SNORA10||NON_CODING|NR_002327.1||1),upstream_gene_variant(MODIFIER||714|||SNHG9||NON_CODING|NR_003142.2||1),upstream_gene_variant(MODIFIER||1176|||SNORA64||NON_CODING|NR_002326.1||1),upstream_gene_variant(MODIFIER||902|||SNORA78||NON_CODING|NR_003020.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K79me2,IMR90:H3K4me3,GM06990:CTCF",,,,0.7924,0.781,0.8091,0.86,0.96,0.80,,,,,,,,,,,,,,,,
missense_variant,ZNF598,MISSENSE,NM_178167.3:p.Glu25Gly/c.74A>G,gAa/gGa,MODERATE,COSM3754766(3),1,1,rs71384660,0.39(T),,,-0.9820(T),,chr16,2059674,2059674,T,C,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu25Gly/c.74A>G|904|ZNF598|protein_coding|CODING|NM_178167.3|2|1),"K562:ZBTB7A,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:Yy1,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.051871(N),0.000(P),-1.07(T),0.0000(T),0.188,-0.537056,3.3,3.3,-0.642000,0.691000,0.911000,0.107000,1.000000,1.000000,8.393
missense_variant,ZNF598,MISSENSE,NM_178167.3:p.Glu17Ala/c.50A>C,gAg/gCg,MODERATE,COSM4128778(1),1,1,rs71384661,0.76(T),,,-0.9888(T),,chr16,2059698,2059698,T,G,hom,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu17Ala/c.50A>C|904|ZNF598|protein_coding|CODING|NM_178167.3|2|1),"K562:ZBTB7A,NHEK:H3K9ac,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.754556(N),0.944(P),2.29(T),0.0000(T),0.187,-0.848858,3.15,-1.53,-1.838000,-0.838000,0.100000,0.003000,0.018000,0.008000,0.2073
missense_variant,ZNF598,MISSENSE,NM_178167.3:p.Met14Leu/c.40A>C,Atg/Ctg,MODERATE,COSM4128779(2),1,1,rs71384662,0.75(T),,,-0.9959(T),,chr16,2059708,2059708,T,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met14Leu/c.40A>C|904|ZNF598|protein_coding|CODING|NM_178167.3|2|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.000396(N),0.996(P),2.44(T),0.0195(T),0.158,-1.487564,2.36,2.36,-0.648000,0.577000,0.546000,0.004000,0.121000,0.004000,4.383
missense_variant,ZNF598,MISSENSE,NM_178167.3:p.Asp13Ala/c.38A>C,gAc/gCc,MODERATE,COSM4128780(2),1,1,rs71384663,0.59(T),,,-0.9920(T),,chr16,2059710,2059710,T,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp13Ala/c.38A>C|904|ZNF598|protein_coding|CODING|NM_178167.3|2|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.000057(N),0.999(P),2.37(T),0.0000(T),0.116,-0.904928,2.36,2.36,-0.648000,0.577000,0.972000,0.003000,0.085000,0.004000,3.054
missense_variant,TSC2,MISSENSE,NM_000548.3:p.Arg367Gln/c.1100G>A,cGg/cAg,MODERATE,,0.00878594,0,rs1800725,0.34(T),"0.978,0.973,0.594,0.997,0.952,0.99(D,D,P,D,D,D)",2.015(M),-0.1373(T),,chr16,2110795,2110795,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg367Gln/c.1100G>A|1807|TSC2|protein_coding|CODING|NM_000548.3|11|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg367Gln/c.1100G>A|1740|TSC2|protein_coding|CODING|NM_001077183.1|11|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg367Gln/c.1100G>A|1784|TSC2|protein_coding|CODING|NM_001114382.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,"RCV000034642.3|RCV000054867.1|RCV000118696.3|RCV000129200.1,RCV000055059.1",,0.0174,0.0159,0.0139,0.02,0.01,0.02,,0.000000(D),1.000(D),"-1.35,-1.35,-1.35,-1.35,-1.35,-1.35(T,T,T,T,T,T)",0.4297(T),0.525,3.903535,4.6,4.6,0.561000,2.257000,6.654000,0.826000,0.441000,1.000000,12.2923
synonymous_variant,PKD1,SILENT,NM_001009944.2:p.Thr1558Thr/c.4674G>A,acG/acA,LOW,COSM3754780(1),0.0710863,0.1875,rs79884128,,,,,,chr16,2160494,2160494,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr1558Thr/c.4674G>A|4302|PKD1|protein_coding|CODING|NM_000296.3|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr1558Thr/c.4674G>A|4303|PKD1|protein_coding|CODING|NM_001009944.2|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0552,0.062,0.0676,0.05,0.01,0.08,,,,,,,,,,,,,,,,
missense_variant,PKD1,MISSENSE,NM_001009944.2:p.Pro1168Ser/c.3502C>T,Cct/Tct,MODERATE,COSM434871(1),0.00399361,0,rs146887330,0.51(T),"0.122,0.241(B,B)",0.79(N),-1.0704(T),,chr16,2161666,2161666,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1168Ser/c.3502C>T|4302|PKD1|protein_coding|CODING|NM_000296.3|15|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1168Ser/c.3502C>T|4303|PKD1|protein_coding|CODING|NM_001009944.2|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.001,0.0029,0.0169,0.01,0.00,0.01,,0.257821(N),1.000(N),"0.1,0.1(T,T)",0.0531(T),0.076,0.448499,5.66,3.69,0.645000,0.732000,0.432000,0.022000,0.642000,0.033000,2.6536
synonymous_variant,BRICD5,SILENT,NM_182563.3:p.Val219Val/c.657G>C,gtG/gtC,LOW,COSM3754792(2),0.0213658,0,rs1129185,,,,,,chr16,2259393,2259393,C,G,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val219Val/c.657G>C|228|BRICD5|protein_coding|CODING|NM_182563.3|6|1),3_prime_UTR_variant(MODIFIER||515|c.*515C>G|326|MLST8|protein_coding|CODING|NM_001199173.1|9|1),3_prime_UTR_variant(MODIFIER||515|c.*515C>G|326|MLST8|protein_coding|CODING|NM_001199174.1|9|1),3_prime_UTR_variant(MODIFIER||515|c.*515C>G|325|MLST8|protein_coding|CODING|NM_001199175.1|9|1),3_prime_UTR_variant(MODIFIER||515|c.*515C>G|326|MLST8|protein_coding|CODING|NM_022372.4|9|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0204,0.0504,0.0487,0.05,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,BRICD5,MISSENSE,NM_182563.3:p.Ser31Gly/c.91A>G,Agc/Ggc,MODERATE,COSM3754796(1),0.632788,0.6042,rs26856,1(T),"0.0,0.0(B,B)",-0.75(N),-0.9586(T),,chr16,2260612,2260612,T,C,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser31Gly/c.91A>G|228|BRICD5|protein_coding|CODING|NM_182563.3|2|1),downstream_gene_variant(MODIFIER||1194||326|MLST8|protein_coding|CODING|NM_001199173.1||1),downstream_gene_variant(MODIFIER||1194||326|MLST8|protein_coding|CODING|NM_001199174.1||1),downstream_gene_variant(MODIFIER||1194||325|MLST8|protein_coding|CODING|NM_001199175.1||1),downstream_gene_variant(MODIFIER||1194||326|MLST8|protein_coding|CODING|NM_022372.4||1),downstream_gene_variant(MODIFIER||991||321|PGP|protein_coding|CODING|NM_001042371.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.592,0.6671,0.6998,0.69,0.64,0.71,,0.005113(N),1.000(P),1.97(T),0.0000(T),0.068,-1.709638,5.69,2.61,-0.119000,0.338000,0.270000,0.001000,0.005000,0.000000,4.9257
missense_variant,E4F1,MISSENSE,NM_004424.4:p.Arg167His/c.500G>A,cGc/cAc,MODERATE,COSM4128818(1),0.995607,1,rs26839,0.17(T),"0.001,0.0,0.042(B,B,B)",-0.69(N),-0.9709(T),,chr16,2282256,2282256,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg167His/c.500G>A|654|E4F1|protein_coding|CODING|NM_001288776.1|4|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg167His/c.500G>A|607|E4F1|protein_coding|CODING|NM_001288778.1|4|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg167His/c.500G>A|784|E4F1|protein_coding|CODING|NM_004424.4|4|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9957,0.9851,0.99,1.00,0.99,,0.034714(N),1.000(P),3.3(T),0.0000(T),0.291,1.364304,4.21,-6.01,-1.374000,-1.533000,-0.663000,0.001000,0.000000,0.000000,8.465
missense_variant,ECI1,MISSENSE,NM_001919.3:p.Thr76Met/c.227C>T,aCg/aTg,MODERATE,,0.00658946,0.001,rs112729404,0.1(T),"0.209,0.344(B,B)",2.01(M),-0.7118(T),,chr16,2296927,2296927,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr76Met/c.227C>T|285|ECI1|protein_coding|CODING|NM_001178029.1|3|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr76Met/c.227C>T|302|ECI1|protein_coding|CODING|NM_001919.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0,0.002,0.00,0.00,0.00,,0.000000(N),1.000(D),-0.37(T),0.2284(T),0.795,1.170560,5.21,3.22,-0.175000,0.761000,6.033000,0.002000,0.027000,1.000000,9.0817
synonymous_variant,ABCA3,SILENT,NM_001089.2:p.Ser1372Ser/c.4116T>C,agT/agC,LOW,COSM4128822(1),0.900958,1,rs149532,,,,,,chr16,2331430,2331430,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1372Ser/c.4116T>C|1704|ABCA3|protein_coding|CODING|NM_001089.2|27|1),"HepG2:Nrsf,HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,HeLa-S3:Nrsf,IMR90:H3K27me3,H1ESC:Nrsf,K562:Nrsf,HepG2:H3K27me3,GM12878:Nrsf",,,,0.9611,0.9179,0.9175,0.87,0.78,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ABCA3,SILENT,NM_001089.2:p.Phe353Phe/c.1059C>T,ttC/ttT,LOW,,0.192692,0.372,rs13332514,,,,,,chr16,2367336,2367336,G,A,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe353Phe/c.1059C>T|1704|ABCA3|protein_coding|CODING|NM_001089.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1748,0.3228,0.0934,0.09,0.09,0.10,,,,,,,,,,,,,,,,
synonymous_variant,SRRM2,SILENT,NM_016333.3:p.Ser706Ser/c.2118C>T,agC/agT,LOW,COSM3754826(2),0.17492,0.2589,rs2240142,,,,,,chr16,2812647,2812647,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser706Ser/c.2118C>T|2752|SRRM2|protein_coding|CODING|NM_016333.3|11|1),"H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.092,0.1311,0.167,0.17,0.19,0.16,,,,,,,,,,,,,,,,
synonymous_variant,SRRM2,SILENT,NM_016333.3:p.Lys787Lys/c.2361A>G,aaA/aaG,LOW,COSM3999817(2),0.674321,0.4464,rs2240141,,,,,,chr16,2812890,2812890,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys787Lys/c.2361A>G|2752|SRRM2|protein_coding|CODING|NM_016333.3|11|1),"H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6912,0.853,0.8151,0.78,0.68,0.83,,,,,,,,,,,,,,,,
missense_variant,SRRM2,MISSENSE,NM_016333.3:p.Pro804Thr/c.2410C>A,Cct/Act,MODERATE,,0.414337,0.372,rs2240140,0.69(T),0.001(B),0.805(L),-0.9572(T),,chr16,2812939,2812939,C,A,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro804Thr/c.2410C>A|2752|SRRM2|protein_coding|CODING|NM_016333.3|11|1),"H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5736,0.6873,0.6262,0.45,0.13,0.61,,0.057840(N),1.000(P),1.74(T),0.0000(T),0.245,-1.693981,5.36,3.39,-0.181000,0.628000,0.748000,0.749000,0.462000,0.049000,4.3612
synonymous_variant,SRRM2,SILENT,NM_016333.3:p.Arg1211Arg/c.3633G>A,agG/agA,LOW,COSM3999820(2),0.654553,0.4226,rs3094775,,,,,,chr16,2814162,2814162,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg1211Arg/c.3633G>A|2752|SRRM2|protein_coding|CODING|NM_016333.3|11|1),"H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.684,0.8329,0.7744,0.74,0.67,0.78,,,,,,,,,,,,,,,,
synonymous_variant,SRRM2,SILENT,NM_016333.3:p.Arg1570Arg/c.4708A>C,Aga/Cga,LOW,,0.895168,0.7054,rs3094773,,,,,,chr16,2815237,2815237,A,C,hom,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg1570Arg/c.4708A>C|2752|SRRM2|protein_coding|CODING|NM_016333.3|11|1),"H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7986,0.9942,0.9851,0.99,0.99,0.99,,,,,,,,,,,,,,,,
synonymous_variant,SRRM2,SILENT,NM_016333.3:p.Ser2544Ser/c.7632T>C,tcT/tcC,LOW,COSM4128867(1),0.671725,0.4335,rs2301802,,,,,,chr16,2818161,2818161,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser2544Ser/c.7632T>C|2752|SRRM2|protein_coding|CODING|NM_016333.3|11|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7004,0.8545,0.8131,0.78,0.68,0.83,,,,,,,,,,,,,,,,
missense_variant,TCEB2,MISSENSE,NM_207013.2:p.Thr145Met/c.434C>T,aCg/aTg,MODERATE,COSM3754827(1),0.188299,0.0754,rs4036,1(T),0.0(B),0(N),-0.9347(T),,chr16,2821525,2821525,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr145Met/c.434C>T|161|TCEB2|protein_coding|CODING|NM_207013.2|5|1),3_prime_UTR_variant(MODIFIER||466|c.*466C>T|118|TCEB2|protein_coding|CODING|NM_007108.3|4|1),downstream_gene_variant(MODIFIER||112||2752|SRRM2|protein_coding|CODING|NM_016333.3||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0685,0.1138,0.1044,0.19,0.39,0.09,,,1.000(P),,0.0000(T),0.015,0.358230,2.58,0.106,-0.254000,-0.315000,-0.772000,0.003000,0.000000,0.000000,2.9225
missense_variant,TCEB2,MISSENSE,NM_207013.2:p.Ser129Asn/c.386G>A,aGc/aAc,MODERATE,COSM3754828(4),0.413738,0.3591,rs8017,0.25(T),0.023(B),0(N),-0.9333(T),,chr16,2821573,2821573,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser129Asn/c.386G>A|161|TCEB2|protein_coding|CODING|NM_207013.2|5|1),3_prime_UTR_variant(MODIFIER||418|c.*418G>A|118|TCEB2|protein_coding|CODING|NM_007108.3|4|1),downstream_gene_variant(MODIFIER||160||2752|SRRM2|protein_coding|CODING|NM_016333.3||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5174,0.5533,0.5169,0.45,0.29,0.53,,,1.000(P),,0.0000(T),0.001,1.206812,3.06,1.03,0.609000,0.323000,-0.011000,0.012000,0.000000,0.000000,3.6722
synonymous_variant,PRSS21,SILENT,NM_006799.3:p.Pro28Pro/c.84G>C,ccG/ccC,LOW,COSM3754831(9),0.470248,0.2738,rs71386691,,,,,,chr16,2867450,2867450,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro28Pro/c.84G>C|225|PRSS21|protein_coding|CODING|NM_001270452.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro28Pro/c.84G>C|314|PRSS21|protein_coding|CODING|NM_006799.3|2|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro28Pro/c.84G>C|312|PRSS21|protein_coding|CODING|NM_144956.2|2|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro28Pro/c.84G>C|300|PRSS21|protein_coding|CODING|NM_144957.2|2|1),non_coding_exon_variant(MODIFIER|||n.190G>C||PRSS21||CODING|NR_073012.1|2|1)","K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:DNase1,K562:Znf263,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:PolII,K562:Yy1,IMR90:H3K27me3,HeLa-S3:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:DNase1",,,,0.4417,0.5447,0.5129,0.46,0.49,0.44,,,,,,,,,,,,,,,,
synonymous_variant,PRSS21,SILENT,NM_006799.3:p.Pro298Pro/c.894G>A,ccG/ccA,LOW,COSM3765878(1),0.667931,0.6706,rs10641,,,,,,chr16,2871555,2871555,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro298Pro/c.894G>A|314|PRSS21|protein_coding|CODING|NM_006799.3|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro296Pro/c.888G>A|312|PRSS21|protein_coding|CODING|NM_144956.2|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro284Pro/c.852G>A|300|PRSS21|protein_coding|CODING|NM_144957.2|6|1),3_prime_UTR_variant(MODIFIER||184|c.*184G>A|225|PRSS21|protein_coding|CODING|NM_001270452.1|6|1),non_coding_exon_variant(MODIFIER|||n.876G>A||PRSS21||CODING|NR_073012.1|6|1)","HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6431,0.6254,0.6829,0.70,0.71,0.69,,,,,,,,,,,,,,,,
missense_variant,CLDN6,MISSENSE,NM_021195.4:p.Ile143Val/c.427A>G,Atc/Gtc,MODERATE,COSM435115(4),0.298922,0.1925,rs2257295,0.38(T),0.08(B),0.995(L),-1.0615(T),,chr16,3065596,3065596,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile143Val/c.427A>G|220|CLDN6|protein_coding|CODING|NM_021195.4|2|1),downstream_gene_variant(MODIFIER||1090||217|CLDN9|protein_coding|CODING|NM_020982.3||1)","H1ESC:PolII,H1ESC:H3K36me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2342,0.3343,0.3708,0.39,0.37,0.39,,0.000076(N),0.000(P),"-2.49,-2.49(D,D)",0.0000(T),0.046,0.549571,4.76,2.51,0.533000,0.423000,1.726000,0.114000,0.941000,1.000000,7.5467
missense_variant,CCDC64B,MISSENSE,NM_001103175.1:p.Gln273Arg/c.818A>G,cAg/cGg,MODERATE,,0.245407,0.1786,rs2244494,0.11(T),0.979(D),1.65(L),-1.0216(T),,chr16,3079685,3079685,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln273Arg/c.818A>G|508|CCDC64B|protein_coding|CODING|NM_001103175.1|5|1),downstream_gene_variant(MODIFIER||1929||296|THOC6|protein_coding|CODING|NM_001142350.1||1),downstream_gene_variant(MODIFIER||1929||341|THOC6|protein_coding|CODING|NM_024339.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,GM12878:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HepG2:PolII,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:TAF1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.2331,0.2233,0.3161,0.24,0.20,0.25,,0.000613(D),0.000(P),1.4(T),0.0000(T),0.354,3.677950,5.14,5.14,0.402000,1.956000,2.560000,0.128000,1.000000,1.000000,11.3354
missense_variant,CCDC64B,MISSENSE,NM_001103175.1:p.Gln55Glu/c.163C>G,Cag/Gag,MODERATE,COSM435137(2),0.273562,0.1905,rs7204908,0.92(T),0.143(B),0.41(N),-0.9619(T),,chr16,3085335,3085335,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln55Glu/c.163C>G|508|CCDC64B|protein_coding|CODING|NM_001103175.1|1|1),splice_region_variant(LOW|||n.241G>C||LOC100128770||NON_CODING|NR_047572.1|3|1),intron_variant(MODIFIER|||n.241-4G>C||LOC100128770||NON_CODING|NR_047572.1|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.226,0.3573,0.333,0.34,0.30,0.35,,0.008422(N),0.000(P),3.6(T),0.0000(T),0.315,2.200816,5.08,5.08,0.457000,2.361000,3.490000,0.977000,1.000000,1.000000,11.814
synonymous_variant,CCDC64B,SILENT,NM_001103175.1:p.Gly41Gly/c.123C>T,ggC/ggT,LOW,,0.294329,0.1905,rs11077096,,,,,,chr16,3085375,3085375,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly41Gly/c.123C>T|508|CCDC64B|protein_coding|CODING|NM_001103175.1|1|1),non_coding_exon_variant(MODIFIER|||n.277G>A||LOC100128770||NON_CODING|NR_047572.1|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2301,0.3631,0.336,0.35,0.35,0.35,,,,,,,,,,,,,,,,
synonymous_variant,MMP25,SILENT,NM_022468.4:p.Arg106Arg/c.318C>T,cgC/cgT,LOW,COSM3754852(5),0.252196,0.1905,rs10431961,,,,,,chr16,3100095,3100095,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg106Arg/c.318C>T|562|MMP25|protein_coding|CODING|NM_022468.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2618,0.3458,0.3091,0.29,0.23,0.33,,,,,,,,,,,,,,,,
missense_variant,MMP25,MISSENSE,NM_022468.4:p.Gly541Glu/c.1622G>A,gGa/gAa,MODERATE,COSM3754861(1),0.090655,0,rs7188234,1(T),0.002(B),0.345(N),-0.9893(T),,chr16,3109032,3109032,G,A,het,"missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly541Glu/c.1622G>A|562|MMP25|protein_coding|CODING|NM_022468.4|10|1),non_coding_exon_variant(MODIFIER|||n.340C>T||LOC100507419||NON_CODING|NR_123723.1|1|1)","K562:ZBTB7A,NHEK:CTCF,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:Cmyc,K562:CTCFL,HMEC:CTCF,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,GM06990:CTCF",,,,0.0552,0.0793,0.0895,0.11,0.17,0.08,,0.680715(N),1.000(P),2.41(T),0.0000(T),0.042,2.994496,4.14,0.638,-0.550000,0.194000,0.432000,0.010000,0.002000,0.003000,1.7657
synonymous_variant,ZNF205,SILENT,NM_001042428.1:p.Cys509Cys/c.1527C>T,tgC/tgT,LOW,COSM3724261(3),0.384185,0.4365,rs12032,,,,,,chr16,3170188,3170188,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys509Cys/c.1527C>T|554|ZNF205|protein_coding|CODING|NM_001042428.1|7|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys509Cys/c.1527C>T|554|ZNF205|protein_coding|CODING|NM_001278158.1|7|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys509Cys/c.1527C>T|554|ZNF205|protein_coding|CODING|NM_003456.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3926,0.4496,0.4076,0.36,0.29,0.39,,,,,,,,,,,,,,,,
missense_variant,OR1F1,MISSENSE,NM_012360.1:p.Phe75Ser/c.224T>C,tTc/tCc,MODERATE,,0.431909,0.5655,rs1834026,1(T),0.0(B),-2.935(N),-1.0444(T),,chr16,3254470,3254470,T,C,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe75Ser/c.224T>C|312|OR1F1|protein_coding|CODING|NM_012360.1|1|1),"HUVEC:H3K27me3,CD4:H2BK20ac,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4458,0.5202,0.4314,0.40,0.31,0.44,,0.001220(N),0.999(P),7.62(T),0.0000(T),0.052,-0.911763,5.26,4.3,-0.665000,0.582000,0.779000,0.820000,1.000000,0.000000,9.205
synonymous_variant,OR1F1,SILENT,NM_012360.1:p.Gly242Gly/c.726T>C,ggT/ggC,LOW,,0.390176,0.5685,rs2075851,,,,,,chr16,3254972,3254972,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly242Gly/c.726T>C|312|OR1F1|protein_coding|CODING|NM_012360.1|1|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.4458,0.5101,0.4294,0.35,0.19,0.44,,,,,,,,,,,,,,,,
missense_variant,MEFV,MISSENSE,NM_001198536.1:p.Gly436Arg/c.1306G>A,Gga/Aga,MODERATE,COSM3754866(1),0.353634,0.3958,rs1231122,0.26(T),,,-0.9470(T),,chr16,3293888,3293888,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly436Arg/c.1306G>A|445|MEFV|protein_coding|CODING|NM_001198536.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro588Pro/c.1764G>A|781|MEFV|protein_coding|CODING|NM_000243.2|9|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030177.1,,0.2352,0.3746,0.4423,0.42,0.34,0.47,,,1.000(P),-0.16(T),0.0000(T),.,-0.810459,4.83,-0.232,-0.972000,-0.445000,0.169000,0.018000,0.175000,0.338000,0.9747
missense_variant,MEFV,MISSENSE,NM_001198536.1:p.Asp424Glu/c.1272T>A,gaT/gaA,MODERATE,,0.311302,0.2808,rs1231123,,,0(N),-0.9437(T),,chr16,3293922,3293922,A,T,het,"missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp424Glu/c.1272T>A|445|MEFV|protein_coding|CODING|NM_001198536.1|8|1),intron_variant(MODIFIER|||c.1760-30T>A|781|MEFV|protein_coding|CODING|NM_000243.2|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2157,0.3646,0.4414,0.41,0.30,0.46,,,1.000(P),0.04(T),0.0000(T),0.046,3.199416,4.99,-1.4,-0.812000,-0.780000,-0.068000,0.003000,0.000000,0.000000,1.6153
synonymous_variant,MEFV,SILENT,NM_000243.2:p.Asp510Asp/c.1530T>C,gaT/gaC,LOW,,0.663139,0.6518,rs224206,,,,,,chr16,3297073,3297073,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp510Asp/c.1530T>C|781|MEFV|protein_coding|CODING|NM_000243.2|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp299Asp/c.897T>C|445|MEFV|protein_coding|CODING|NM_001198536.1|4|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030175.1,,0.7658,0.6297,0.5577,0.58,0.68,0.53,,,,,,,,,,,,,,,,
synonymous_variant,MEFV,SILENT,NM_000243.2:p.Gln476Gln/c.1428A>G,caA/caG,LOW,,0.650559,0.6528,rs224207,,,,,,chr16,3297175,3297175,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln476Gln/c.1428A>G|781|MEFV|protein_coding|CODING|NM_000243.2|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln265Gln/c.795A>G|445|MEFV|protein_coding|CODING|NM_001198536.1|4|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7648,0.6239,0.5577,0.57,0.64,0.53,,,,,,,,,,,,,,,,
synonymous_variant,MEFV,SILENT,NM_000243.2:p.Glu474Glu/c.1422G>A,gaG/gaA,LOW,,0.638978,0.6062,rs224208,,,,,,chr16,3297181,3297181,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu474Glu/c.1422G>A|781|MEFV|protein_coding|CODING|NM_000243.2|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu263Glu/c.789G>A|445|MEFV|protein_coding|CODING|NM_001198536.1|4|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030172.1,,0.7648,0.6239,0.5577,0.57,0.63,0.53,,,,,,,,,,,,,,,,
synonymous_variant,MEFV,SILENT,NM_000243.2:p.Arg314Arg/c.942C>T,cgC/cgT,LOW,COSM3754869(2),0.690695,0.7083,rs224213,,,,,,chr16,3299749,3299749,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg314Arg/c.942C>T|781|MEFV|protein_coding|CODING|NM_000243.2|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg103Arg/c.309C>T|445|MEFV|protein_coding|CODING|NM_001198536.1|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030188.1,,0.7853,0.6412,0.5606,0.60,0.71,0.54,,,,,,,,,,,,,,,,
missense_variant,MEFV,MISSENSE,NM_000243.2:p.Arg202Gln/c.605G>A,cGg/cAg,MODERATE,COSM3749364(9),0.135982,0.0308,rs224222,1(T),0.001(B),0(N),-1.0421(T),,chr16,3304463,3304463,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg202Gln/c.605G>A|781|MEFV|protein_coding|CODING|NM_000243.2|2|1),intron_variant(MODIFIER|||c.277+1848G>A|445|MEFV|protein_coding|CODING|NM_001198536.1|1|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030185.1|RCV000126742.1,,0.0992,0.3242,0.2783,0.18,0.07,0.24,,0.003723(N),1.000(P),0.03(T),0.0000(T),0.075,-0.600781,4.79,-5.23,-2.943000,-1.150000,-2.420000,0.000000,0.000000,0.000000,1.8616
synonymous_variant,MEFV,SILENT,NM_000243.2:p.Ala165Ala/c.495C>A,gcC/gcA,LOW,COSM1128970(16),0.386382,0.1667,rs224223,,,,,,chr16,3304573,3304573,G,T,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala165Ala/c.495C>A|781|MEFV|protein_coding|CODING|NM_000243.2|2|1),intron_variant(MODIFIER|||c.277+1738C>A|445|MEFV|protein_coding|CODING|NM_001198536.1|1|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030184.1,,0.183,0.5965,0.4732,0.47,0.49,0.45,,,,,,,,,,,,,,,,
synonymous_variant,MEFV,SILENT,NM_000243.2:p.Gly138Gly/c.414A>G,ggA/ggG,LOW,COSM3754870(4),0.386581,0.1587,rs224224,,,,,,chr16,3304654,3304654,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly138Gly/c.414A>G|781|MEFV|protein_coding|CODING|NM_000243.2|2|1),intron_variant(MODIFIER|||c.277+1657A>G|445|MEFV|protein_coding|CODING|NM_001198536.1|1|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030183.1|RCV000126740.1,,0.1963,0.5937,0.4742,0.47,0.49,0.45,,,,,,,,,,,,,,,,
synonymous_variant,MEFV,SILENT,NM_000243.2:p.Asp102Asp/c.306T>C,gaT/gaC,LOW,COSM435205(3),0.389377,0.1577,,,,,,,chr16,3304762,3304762,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp102Asp/c.306T>C|781|MEFV|protein_coding|CODING|NM_000243.2|2|1),intron_variant(MODIFIER|||c.277+1549T>C|445|MEFV|protein_coding|CODING|NM_001198536.1|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000030182.1,,0.2117,0.5937,0.4732,0.48,0.50,0.46,,,,,,,,,,,,,,,,
missense_variant,ZNF263,MISSENSE,NM_005741.4:p.Cys310Ser/c.929G>C,tGc/tCc,MODERATE,,0.272165,0.0357,rs220379,0.97(T),0.0(B),-0.345(N),-0.9646(T),,chr16,3339435,3339435,G,C,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys310Ser/c.929G>C|683|ZNF263|protein_coding|CODING|NM_005741.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.3545,0.2634,0.34,0.51,0.25,,0.431863(N),1.000(P),3.58(T),0.0000(T),0.009,-0.246389,5.49,-0.916,-0.120000,-0.156000,-0.858000,0.000000,0.000000,0.000000,2.0718
missense_variant,ZNF75A,MISSENSE,NM_153028.2:p.Val84Ala/c.251T>C,gTg/gCg,MODERATE,,0.129393,0.0327,rs17611866,0.52(T),0.001(B),0.69(N),-1.0133(T),,chr16,3367229,3367229,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val84Ala/c.251T>C|296|ZNF75A|protein_coding|CODING|NM_153028.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1043,0.3055,0.2704,0.19,0.06,0.25,,0.131634(N),1.000(P),,0.0000(T),0.148,-0.872896,4.57,0.954,0.455000,0.033000,0.004000,0.236000,0.001000,0.000000,7.8956
missense_variant,OR2C1,MISSENSE,NM_012368.2:p.Gly16Ser/c.46G>A,Ggc/Agc,MODERATE,COSM3754874(2),0.252596,0.1429,rs1218762,0.02(D),0.922(D),3.72(H),-0.9629(T),,chr16,3405986,3405986,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly16Ser/c.46G>A|312|OR2C1|protein_coding|CODING|NM_012368.2|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2464,0.2435,0.2614,0.30,0.35,0.27,,0.000912(D),0.005(P),5.96(T),0.0000(T),0.306,2.841769,4.35,4.35,0.401000,2.241000,7.449000,0.583000,0.979000,1.000000,14.4129
synonymous_variant,OR2C1,SILENT,NM_012368.2:p.Ser18Ser/c.54A>G,tcA/tcG,LOW,COSM4129045(1),0.869808,0.9147,rs1228348,,,,,,chr16,3405994,3405994,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser18Ser/c.54A>G|312|OR2C1|protein_coding|CODING|NM_012368.2|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.9489,0.889,0.8479,0.84,0.80,0.86,,,,,,,,,,,,,,,,
missense_variant,OR2C1,MISSENSE,NM_012368.2:p.Cys149Trp/c.447C>G,tgC/tgG,MODERATE,COSM4129046(1),0.998003,1,rs1218763,1(T),0.0(B),-2.86(N),-0.9907(T),,chr16,3406387,3406387,C,G,hom,missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys149Trp/c.447C>G|312|OR2C1|protein_coding|CODING|NM_012368.2|1|1),"K562:CTCF,GM12878:H3K36me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,0.99,1.00,,0.036918(N),0.006(P),2.21(T),0.0000(T),0.125,-2.113307,4.63,3.67,-0.291000,0.580000,1.333000,0.353000,0.889000,0.916000,9.4906
synonymous_variant,OR2C1,SILENT,NM_012368.2:p.Thr192Thr/c.576A>G,acA/acG,LOW,COSM4129047(1),0.316893,0.1736,rs11643487,,,,,,chr16,3406516,3406516,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr192Thr/c.576A>G|312|OR2C1|protein_coding|CODING|NM_012368.2|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3047,0.2882,0.336,0.37,0.43,0.34,,,,,,,,,,,,,,,,
missense_variant,OR2C1,MISSENSE,NM_012368.2:p.Arg229His/c.686G>A,cGc/cAc,MODERATE,COSM3754875(1),0.252596,0.1429,rs11648783,0.03(D),0.005(B),0.285(N),-0.9503(T),,chr16,3406626,3406626,G,A,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg229His/c.686G>A|312|OR2C1|protein_coding|CODING|NM_012368.2|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.2474,0.2421,0.2614,0.30,0.35,0.28,,0.343234(N),1.000(P),1.09(T),0.0000(T),0.049,0.103149,5.0,-5.29,-2.321000,-0.962000,-0.888000,0.003000,0.334000,0.000000,2.6261
missense_variant,ZSCAN32,MISSENSE,NM_001284527.1:p.Tyr332His/c.994T>C,Tat/Cat,MODERATE,COSM3754877(1),0.0656949,0,rs27230,0.27(T),"0.838,0.008,0.008(P,B,B)",2.83(M),-1.0797(T),,chr16,3434699,3434699,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr332His/c.994T>C|697|ZSCAN32|protein_coding|CODING|NM_001284527.1|6|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr43His/c.127T>C|408|ZSCAN32|protein_coding|CODING|NM_001284528.1|3|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr43His/c.127T>C|408|ZSCAN32|protein_coding|CODING|NM_001284529.1|2|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr120His/c.358T>C|485|ZSCAN32|protein_coding|CODING|NM_017810.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0562,0.1196,0.1779,0.14,0.04,0.19,,0.521018(N),1.000(P),"0.67,0.67,0.67,0.67,0.67(T,T,T,T,T)",0.0005(T),0.324,2.346838,3.02,0.563,0.533000,-0.156000,-0.419000,0.122000,0.000000,0.000000,3.4475
missense_variant,ZSCAN32,MISSENSE,NM_001284527.1:p.Glu92Asp/c.276G>C,gaG/gaC,MODERATE,COSM3817944(2),0.257388,0.131,rs27241,0.01(D),"0.992,0.118(D,B)",,-0.9331(T),,chr16,3447282,3447282,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu92Asp/c.276G>C|697|ZSCAN32|protein_coding|CODING|NM_001284527.1|2|1),5_prime_UTR_variant(MODIFIER||12457|c.-207G>C|408|ZSCAN32|protein_coding|CODING|NM_001284528.1|2|1),5_prime_UTR_variant(MODIFIER||7158|c.-245G>C|485|ZSCAN32|protein_coding|CODING|NM_017810.3|2|1),intron_variant(MODIFIER|||c.-117+3663G>C|408|ZSCAN32|protein_coding|CODING|NM_001284529.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2556,0.2262,0.2475,,,,,0.115140(U),0.079(P),"3.18,3.18(T,T)",0.0000(T),0.171,1.703130,4.36,2.35,-0.136000,0.285000,0.238000,0.986000,0.008000,0.976000,5.3104
synonymous_variant,ZNF174,SILENT,NM_003450.2:p.Ala63Ala/c.189T>G,gcT/gcG,LOW,,0.921925,0.9206,rs37811,,,,,,chr16,3452193,3452193,T,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala63Ala/c.189T>G|234|ZNF174|protein_coding|CODING|NM_001032292.2|1|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala63Ala/c.189T>G|407|ZNF174|protein_coding|CODING|NM_003450.2|1|1),upstream_gene_variant(MODIFIER||1128||697|ZSCAN32|protein_coding|CODING|NM_001284527.1||1),upstream_gene_variant(MODIFIER||1128||408|ZSCAN32|protein_coding|CODING|NM_001284528.1||1),upstream_gene_variant(MODIFIER||1128||408|ZSCAN32|protein_coding|CODING|NM_001284529.1||1),upstream_gene_variant(MODIFIER||1128||485|ZSCAN32|protein_coding|CODING|NM_017810.3||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,HeLa-S3:H3K4me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,IMR90:H3K4me3,K562:DNase1",,,,0.9468,0.9049,0.8519,0.89,0.95,0.86,,,,,,,,,,,,,,,,
missense_variant,CLUAP1,MISSENSE,NM_015041.2:p.Arg401Trp/c.1201C>T,Cgg/Tgg,MODERATE,,0.178514,0.2044,rs9790,0.01(D),"0.528,0.306(P,B)",1.39(L),-1.0785(T),,chr16,3586230,3586230,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg401Trp/c.1201C>T|413|CLUAP1|protein_coding|CODING|NM_015041.2|12|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg235Trp/c.703C>T|247|CLUAP1|protein_coding|CODING|NM_024793.2|8|1)","IMR90:H2BK120ac,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,IMR90:H3K4me1,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,GM06990:H3K36me3",,,,0.3037,0.2421,0.1968,0.15,0.05,0.19,,0.083496(N),0.000(P),"0.86,0.6(T,T)",0.0001(T),0.293,1.992071,5.82,2.59,0.484000,1.473000,0.678000,0.381000,0.996000,0.501000,5.2258
synonymous_variant,NLRC3,SILENT,NM_178844.3:p.Ala935Ala/c.2805G>A,gcG/gcA,LOW,,0.0583067,0.0556,rs35402060,,,,,,chr16,3594296,3594296,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala935Ala/c.2805G>A|1065|NLRC3|protein_coding|CODING|NM_178844.3|17|1),non_coding_exon_variant(MODIFIER|||n.3427G>A||NLRC3||CODING|NR_075083.2|17|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,GM06990:H3K36me3",,,,0.045,0.072,0.0636,0.06,0.06,0.07,,,,,,,,,,,,,,,,
synonymous_variant,NLRC3,SILENT,NM_178844.3:p.Thr596Thr/c.1788T>C,acT/acC,LOW,COSM3749366(3),0.756989,0.7986,rs8044743,,,,,,chr16,3613150,3613150,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr596Thr/c.1788T>C|1065|NLRC3|protein_coding|CODING|NM_178844.3|5|1),non_coding_exon_variant(MODIFIER|||n.2273T>C||NLRC3||CODING|NR_075083.2|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7955,0.6527,0.501,0.63,0.88,0.51,,,,,,,,,,,,,,,,
synonymous_variant,NLRC3,SILENT,NM_178844.3:p.Thr577Thr/c.1731C>A,acC/acA,LOW,COSM3754886(2),0.0471246,0.0546,rs9940099,,,,,,chr16,3613207,3613207,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr577Thr/c.1731C>A|1065|NLRC3|protein_coding|CODING|NM_178844.3|5|1),non_coding_exon_variant(MODIFIER|||n.2216C>A||NLRC3||CODING|NR_075083.2|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0419,0.072,0.0636,,,,,,,,,,,,,,,,,,,
missense_variant,NLRC3,MISSENSE,NM_178844.3:p.Ser345Thr/c.1034G>C,aGc/aCc,MODERATE,,0.0423323,0.0546,rs117213971,0.58(T),0.002(B),,-1.0096(T),,chr16,3613904,3613904,C,G,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser345Thr/c.1034G>C|1065|NLRC3|protein_coding|CODING|NM_178844.3|5|1),non_coding_exon_variant(MODIFIER|||n.1519G>C||NLRC3||CODING|NR_075083.2|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0419,0.0677,0.0636,0.05,0.01,0.07,,0.430187(N),1.000(N),"-1.79,-1.79,-1.79,-1.79(D,D,D,D)",0.0283(T),0.109,-1.635514,5.15,-4.9,-0.345000,-0.607000,-0.419000,0.010000,0.000000,0.000000,9.0719
missense_variant,NLRC3,MISSENSE,NM_178844.3:p.Met337Thr/c.1010T>C,aTg/aCg,MODERATE,COSM3754890(2),0.0836661,0.0546,rs45483498,1(T),0.0(B),,-0.8056(T),,chr16,3613928,3613928,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met337Thr/c.1010T>C|1065|NLRC3|protein_coding|CODING|NM_178844.3|5|1),non_coding_exon_variant(MODIFIER|||n.1495T>C||NLRC3||CODING|NR_075083.2|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.045,0.0865,0.0666,0.08,0.11,0.07,,0.028623(N),1.000(P),"-1.57,-1.57,-1.57,-1.57(D,D,D,D)",0.0016(T),0.285,-3.320587,5.01,-8.16,-3.171000,-3.082000,-0.679000,0.000000,0.000000,0.000000,18.5924
synonymous_variant,SLX4,SILENT,NM_032444.2:p.Asn1500Asn/c.4500T>C,aaT/aaC,LOW,,0.739617,0.7103,rs3810812,,,,,,chr16,3639139,3639139,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1500Asn/c.4500T>C|1834|SLX4|protein_coding|CODING|NM_032444.2|12|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8088,0.647,0.5169,0.63,0.86,0.51,,,,,,,,,,,,,,,,
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Ala1221Val/c.3662C>T,gCg/gTg,MODERATE,COSM1377775(1),0.0411342,0.0496,rs3827530,0.29(T),0.001(B),0(N),-1.0393(T),,chr16,3639977,3639977,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1221Val/c.3662C>T|1834|SLX4|protein_coding|CODING|NM_032444.2|12|1),"H1ESC:H3K36me3,K562:Max,IMR90:H3K36me3,K562:E2F6,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0419,0.0648,0.0646,0.05,0.01,0.07,,0.070905(N),1.000(N),1.87(T),0.0027(T),0.007,1.851826,5.61,-3.84,-0.226000,-0.446000,-0.220000,0.007000,0.000000,0.000000,5.056
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Pro1122Leu/c.3365C>T,cCg/cTg,MODERATE,,0.239617,0.0843,rs714181,0.39(T),0.002(B),0.695(N),-0.9481(T),,chr16,3640274,3640274,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1122Leu/c.3365C>T|1834|SLX4|protein_coding|CODING|NM_032444.2|12|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2055,0.147,0.0865,0.21,0.46,0.08,,0.327602(N),1.000(P),2.31(T),0.0000(T),0.018,-0.285532,6.07,-0.664,-0.254000,-0.331000,0.088000,0.605000,0.000000,0.001000,6.0854
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Ala952Val/c.2855C>T,gCg/gTg,MODERATE,COSM3754891(1),0.0411342,0.0496,rs78637028,0.1(T),0.299(B),1.67(L),-0.8994(T),,chr16,3640784,3640784,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala952Val/c.2855C>T|1834|SLX4|protein_coding|CODING|NM_032444.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0648,0.0646,0.05,0.01,0.06,,0.673336(N),1.000(N),4.88(T),0.0010(T),0.059,2.603371,5.27,3.18,0.561000,1.359000,-0.216000,0.006000,0.003000,0.000000,5.0782
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Ala952Thr/c.2854G>A,Gcg/Acg,MODERATE,COSM3754892(1),0.0670927,0.0496,rs59939128,0.32(T),0.026(B),1.32(L),-0.9089(T),,chr16,3640785,3640785,C,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala952Thr/c.2854G>A|1834|SLX4|protein_coding|CODING|NM_032444.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0764,0.0646,0.08,0.11,0.07,,0.673336(N),1.000(N),4.97(T),0.0001(T),0.037,1.210756,4.64,-1.42,0.549000,-0.235000,-0.014000,0.009000,0.000000,0.000000,1.7256
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Leu671Ser/c.2012T>C,tTg/tCg,MODERATE,,0.0621006,0.0506,rs77985244,0.55(T),0.0(B),-1.95(N),-0.9632(T),,chr16,3645607,3645607,A,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu671Ser/c.2012T>C|1834|SLX4|protein_coding|CODING|NM_032444.2|9|1),splice_region_variant(LOW|||c.2012T>C|1834|SLX4|protein_coding|CODING|NM_032444.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0735,0.0646,0.08,0.09,0.07,,0.694860(N),1.000(N),5.46(T),0.0000(T),0.02,-0.615866,5.07,0.88,-0.215000,0.028000,0.569000,0.065000,0.107000,0.263000,7.4261
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Asn457Lys/c.1371T>G,aaT/aaG,MODERATE,,0.0549121,0.0506,rs74319927,1(T),0.0(B),-1.545(N),-0.9621(T),,chr16,3647692,3647692,A,C,het,missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn457Lys/c.1371T>G|1834|SLX4|protein_coding|CODING|NM_032444.2|7|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0429,0.0706,0.0656,0.07,0.06,0.07,,0.000011(N),1.000(N),2.35(T),0.0009(T),0.023,0.329828,5.19,5.19,-0.121000,1.195000,0.674000,0.947000,0.998000,1.000000,8.0402
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Met386Val/c.1156A>G,Atg/Gtg,MODERATE,,0.0545128,0.0506,rs113490934,1(T),0.0(B),-1.04(N),-0.9750(T),,chr16,3650987,3650987,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met386Val/c.1156A>G|1834|SLX4|protein_coding|CODING|NM_032444.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0706,0.0646,0.07,0.06,0.07,,0.025592(N),1.000(N),2.19(T),0.0016(T),0.022,-0.102080,5.46,2.41,-0.128000,0.084000,0.435000,0.000000,0.000000,0.000000,5.0684
synonymous_variant,SLX4,SILENT,NM_032444.2:p.Pro384Pro/c.1152A>G,ccA/ccG,LOW,,0.0547125,0.0516,rs112511042,,,,,,chr16,3650991,3650991,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro384Pro/c.1152A>G|1834|SLX4|protein_coding|CODING|NM_032444.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0706,0.0646,0.07,0.06,0.07,,,,,,,,,,,,,,,,
missense_variant,SLX4,MISSENSE,NM_032444.2:p.Arg204Cys/c.610C>T,Cgc/Tgc,MODERATE,,0.0597045,0.0506,rs386477922,0(D),0.999(D),1.75(L),-1.2227(T),,chr16,3656625,3656625,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg204Cys/c.610C>T|1834|SLX4|protein_coding|CODING|NM_032444.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0735,0.0646,0.07,0.08,0.07,,0.000360(D),0.999(D),3.49(T),0.0031(T),0.282,3.839913,5.16,3.11,0.655000,0.620000,2.460000,0.776000,0.943000,0.990000,12.8945
synonymous_variant,SLX4,SILENT,NM_032444.2:p.Asp185Asp/c.555C>T,gaC/gaT,LOW,,0.0419329,0.0506,rs74640850,,,,,,chr16,3656680,3656680,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp185Asp/c.555C>T|1834|SLX4|protein_coding|CODING|NM_032444.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0419,0.0692,0.0646,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,DNASE1,SILENT,NM_005223.3:p.Val176Val/c.528C>G,gtC/gtG,LOW,,0.0179712,0,rs8176938,,,,,,chr16,3707091,3707091,C,G,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val176Val/c.528C>G|282|DNASE1|protein_coding|CODING|NM_005223.3|6|1),downstream_gene_variant(MODIFIER||947||651|TRAP1|protein_coding|CODING|NM_001272049.1||1),downstream_gene_variant(MODIFIER||947||704|TRAP1|protein_coding|CODING|NM_016292.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0447,0.0437,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,DNASE1,MISSENSE,NM_005223.3:p.Arg244Gln/c.731G>A,cGa/cAa,MODERATE,,0.494209,0.4286,rs1053874,0.8(T),0.001(B),-0.875(N),-0.9900(T),,chr16,3707747,3707747,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg244Gln/c.731G>A|282|DNASE1|protein_coding|CODING|NM_005223.3|8|1),downstream_gene_variant(MODIFIER||291||651|TRAP1|protein_coding|CODING|NM_001272049.1||1),downstream_gene_variant(MODIFIER||291||704|TRAP1|protein_coding|CODING|NM_016292.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000018346.1,,0.4254,0.3473,0.3032,0.45,0.74,0.30,,0.000756(N),0.093(P),"1.46,1.46,1.46(T,T,T)",0.0000(T),0.542,0.339737,4.5,4.5,-0.361000,0.875000,0.033000,0.004000,0.315000,0.000000,5.216
missense_variant,TRAP1,MISSENSE,NM_016292.2:p.Arg692His/c.2075G>A,cGc/cAc,MODERATE,,0.0171725,0,rs2791,0.01(D),"0.305,0.431(B,B)",3.545(H),-1.0914(T),,chr16,3708170,3708170,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg639His/c.1916G>A|651|TRAP1|protein_coding|CODING|NM_001272049.1|17|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg692His/c.2075G>A|704|TRAP1|protein_coding|CODING|NM_016292.2|18|1),downstream_gene_variant(MODIFIER||74||282|DNASE1|protein_coding|CODING|NM_005223.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0447,0.0398,0.03,0.01,0.04,,0.000001(N),1.000(D),"2.63,2.63(T,T)",0.0156(T),0.228,3.015272,5.39,3.45,-0.142000,0.792000,3.600000,0.010000,0.983000,1.000000,11.4387
missense_variant,TRAP1,MISSENSE,NM_016292.2:p.Tyr444Asn/c.1330T>A,Tac/Aac,MODERATE,,0.00199681,0,rs61756351,0(D),"0.965,0.985(D,D)",3.12(M),-0.9271(T),,chr16,3716025,3716025,A,T,het,"missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr391Asn/c.1171T>A|651|TRAP1|protein_coding|CODING|NM_001272049.1|11|1),missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr444Asn/c.1330T>A|704|TRAP1|protein_coding|CODING|NM_016292.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0029,0.006,0.01,0.00,0.01,,0.000051(D),1.000(D),"2.9,2.9(T,T)",0.0837(T),0.928,4.477422,5.78,5.78,0.460000,2.215000,8.684000,0.656000,1.000000,1.000000,15.291
synonymous_variant,TRAP1,SILENT,NM_016292.2:p.Tyr344Tyr/c.1032C>T,taC/taT,LOW,,0.0485224,0.0407,rs11541712,,,,,,chr16,3724352,3724352,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr291Tyr/c.873C>T|651|TRAP1|protein_coding|CODING|NM_001272049.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr344Tyr/c.1032C>T|704|TRAP1|protein_coding|CODING|NM_016292.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0648,0.0567,0.05,0.02,0.06,,,,,,,,,,,,,,,,
missense_variant,TRAP1,MISSENSE,NM_016292.2:p.Arg307Gly/c.919C>G,Cgt/Ggt,MODERATE,,0.392772,0.5605,rs13926,0.27(T),"0.0,0.0(B,B)",-0.895(N),-0.9271(T),,chr16,3724465,3724465,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg254Gly/c.760C>G|651|TRAP1|protein_coding|CODING|NM_001272049.1|8|1),missense_variant(MODERATE|MISSENSE|Cgt/Ggt|p.Arg307Gly/c.919C>G|704|TRAP1|protein_coding|CODING|NM_016292.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.4496,0.4394,0.33,0.15,0.43,,0.006158(N),0.727(P),"2.33,2.33(T,T)",0.0000(T),0.118,-0.010686,5.82,-1.77,-2.041000,-0.455000,0.012000,0.001000,0.000000,0.002000,13.4852
synonymous_variant,TRAP1,SILENT,NM_016292.2:p.Ser259Ser/c.777C>G,tcC/tcG,LOW,,0.0405351,0.0397,rs61753377,,,,,,chr16,3726074,3726074,G,C,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser206Ser/c.618C>G|651|TRAP1|protein_coding|CODING|NM_001272049.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser259Ser/c.777C>G|704|TRAP1|protein_coding|CODING|NM_016292.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0605,0.0596,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,TRAP1,MISSENSE,NM_016292.2:p.Ser259Phe/c.776C>T,tCc/tTc,MODERATE,,0.0403355,0.0397,rs61753378,0(D),"0.309,0.56(B,P)",1.445(L),-0.6564(T),,chr16,3726075,3726075,G,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser206Phe/c.617C>T|651|TRAP1|protein_coding|CODING|NM_001272049.1|6|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser259Phe/c.776C>T|704|TRAP1|protein_coding|CODING|NM_016292.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0573,0.0605,0.0596,0.05,0.01,0.07,,0.363480(N),1.000(N),"-1.04,-1.04(T,T)",0.0731(T),0.393,3.087742,5.32,5.32,0.563000,2.644000,5.333000,0.806000,0.066000,0.988000,12.1003
missense_variant,TRAP1,MISSENSE,NM_016292.2:p.Arg13Cys/c.37C>T,Cgc/Tgc,MODERATE,,0.0313498,0.001,rs737260,0(D),"0.001,0.0(B,B)",1.21(L),-1.0666(T),,chr16,3767473,3767473,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg13Cys/c.37C>T|651|TRAP1|protein_coding|CODING|NM_001272049.1|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg13Cys/c.37C>T|704|TRAP1|protein_coding|CODING|NM_016292.2|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,GM12878:Pax5,K562:PolII,H1ESC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.0204,0.085,0.0716,,,,,0.037796(N),1.000(P),"2.39,2.38(T,T)",0.0009(T),0.295,1.098426,3.43,0.268,-0.261000,0.098000,0.279000,0.012000,0.051000,0.001000,4.5026
synonymous_variant,ADCY9,SILENT,NM_001116.3:p.His1054His/c.3162T>C,caT/caC,LOW,COSM4129058(1),0.730631,0.8323,rs2230742,,,,,,chr16,4016676,4016676,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His1054His/c.3162T>C|1353|ADCY9|protein_coding|CODING|NM_001116.3|11|1),"CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5429,0.8372,0.8469,0.80,0.69,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ADCY9,SILENT,NM_001116.3:p.Arg998Arg/c.2994C>T,cgC/cgT,LOW,,0.00259585,0,rs143722912,,,,,,chr16,4016844,4016844,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg998Arg/c.2994C>T|1353|ADCY9|protein_coding|CODING|NM_001116.3|11|1),"CD4:H4K91ac,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0031,0.0058,0.005,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ADCY9,SILENT,NM_001116.3:p.Ala902Ala/c.2706G>A,gcG/gcA,LOW,COSM4129059(1),0.46845,0.5228,rs2240735,,,,,,chr16,4027605,4027605,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala902Ala/c.2706G>A|1353|ADCY9|protein_coding|CODING|NM_001116.3|9|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4346,0.6527,0.7465,0.58,0.24,0.75,,,,,,,,,,,,,,,,
synonymous_variant,ADCY9,SILENT,NM_001116.3:p.Pro4Pro/c.12A>G,ccA/ccG,LOW,,0.9998,1,rs2530898,,,,,,chr16,4165432,4165432,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4Pro/c.12A>G|1353|ADCY9|protein_coding|CODING|NM_001116.3|2|1),"K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,SRL,SILENT,NM_001098814.1:p.Arg157Arg/c.471T>C,cgT/cgC,LOW,,0.813299,0.755,rs10852643,,,,,,chr16,4245693,4245693,A,G,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg157Arg/c.471T>C|473|SRL|protein_coding|CODING|NM_001098814.1|5|1),HepG2:H3K27me3,,,,0.8252,0.7147,0.7286,0.78,0.92,0.71,,,,,,,,,,,,,,,,
synonymous_variant,GLIS2,SILENT,NM_032575.2:p.Tyr288Tyr/c.864T>C,taT/taC,LOW,COSM4129065(1),0.991214,1,rs669561,,,,,,chr16,4386814,4386814,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr288Tyr/c.864T>C|524|GLIS2|protein_coding|CODING|NM_032575.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000082303.1,,0.9888,0.9813,0.9801,0.97,0.99,0.97,,,,,,,,,,,,,,,,
synonymous_variant,VASN,SILENT,NM_138440.2:p.Thr108Thr/c.324A>G,acA/acG,LOW,,0.689696,0.7917,rs758044,,,,,,chr16,4431202,4431202,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr108Thr/c.324A>G|673|VASN|protein_coding|CODING|NM_138440.2|2|1),intron_variant(MODIFIER|||c.731+6785T>C|907|CORO7|protein_coding|CODING|NM_001201472.1|9|1),intron_variant(MODIFIER|||c.530+6785T>C|840|CORO7|protein_coding|CODING|NM_001201473.1|7|1),intron_variant(MODIFIER|||c.785+6785T>C|1048|CORO7-PAM16|protein_coding|CODING|NM_001201479.1|9|1),intron_variant(MODIFIER|||c.785+6785T>C|925|CORO7|protein_coding|CODING|NM_024535.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.7406,0.7883,0.74,0.65,0.79,,,,,,,,,,,,,,,,
missense_variant,VASN,MISSENSE,NM_138440.2:p.Glu384Ala/c.1151A>C,gAg/gCg,MODERATE,COSM435258(5),0.686302,0.7907,rs3810818,0.7(T),0.001(B),0.895(L),-0.9552(T),,chr16,4432029,4432029,A,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu384Ala/c.1151A>C|673|VASN|protein_coding|CODING|NM_138440.2|2|1),intron_variant(MODIFIER|||c.731+5958T>G|907|CORO7|protein_coding|CODING|NM_001201472.1|9|1),intron_variant(MODIFIER|||c.530+5958T>G|840|CORO7|protein_coding|CODING|NM_001201473.1|7|1),intron_variant(MODIFIER|||c.785+5958T>G|1048|CORO7-PAM16|protein_coding|CODING|NM_001201479.1|9|1),intron_variant(MODIFIER|||c.785+5958T>G|925|CORO7|protein_coding|CODING|NM_024535.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5491,0.7363,0.7763,0.74,0.65,0.78,,0.963077(N),0.559(P),0.48(T),0.0000(T),0.073,-0.188265,5.54,0.0708,0.477000,0.386000,0.149000,0.504000,0.454000,0.001000,2.8453
missense_variant,CORO7-PAM16,MISSENSE,NM_001201479.1:p.Arg193Gln/c.578G>A,cGg/cAg,MODERATE,COSM435259(2),0.507388,0.7817,rs3747579,0.04(D),"0.11,0.988(B,D)",2.75(M),-0.9673(T),,chr16,4445327,4445327,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg175Gln/c.524G>A|907|CORO7|protein_coding|CODING|NM_001201472.1|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg108Gln/c.323G>A|840|CORO7|protein_coding|CODING|NM_001201473.1|5|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg193Gln/c.578G>A|1048|CORO7-PAM16|protein_coding|CODING|NM_001201479.1|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg193Gln/c.578G>A|925|CORO7|protein_coding|CODING|NM_024535.4|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4898,0.5836,0.7097,0.55,0.22,0.72,,0.042517(N),0.000(P),"-0.29,4.88(T,T)",0.0000(T),0.574,3.487498,4.17,4.17,0.563000,2.135000,1.096000,0.986000,0.993000,0.120000,11.8635
missense_variant,DNAJA3,MISSENSE,NM_001286516.1:p.Tyr33His/c.97T>C,Tac/Cac,MODERATE,COSM435261(2),0.641973,0.7054,rs1139652,0(D),0.062(B),,-1.0061(T),,chr16,4476089,4476089,T,C,het,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr33His/c.97T>C|300|DNAJA3|protein_coding|CODING|NM_001286516.1|1|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu69Leu/c.207T>C|453|DNAJA3|protein_coding|CODING|NM_001135110.2|1|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu69Leu/c.207T>C|480|DNAJA3|protein_coding|CODING|NM_005147.5|1|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,GM12878:ZEB1,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.5031,0.7118,0.7386,0.70,0.61,0.75,,,0.000(P),0.79(T),0.0000(T),.,2.122266,5.45,4.5,-0.215000,0.885000,0.090000,0.345000,1.000000,0.893000,8.5014
missense_variant,DNAJA3,MISSENSE,NM_005147.5:p.Asn75Tyr/c.223A>T,Aac/Tac,MODERATE,,0.634984,0.6954,rs1139653,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9269(T),,chr16,4484396,4484396,A,T,het,"missense_variant(MODERATE|MISSENSE|Aac/Tac|p.Asn75Tyr/c.223A>T|453|DNAJA3|protein_coding|CODING|NM_001135110.2|2|1),missense_variant(MODERATE|MISSENSE|Aac/Tac|p.Asn75Tyr/c.223A>T|480|DNAJA3|protein_coding|CODING|NM_005147.5|2|1),intron_variant(MODIFIER|||c.102-7111A>T|300|DNAJA3|protein_coding|CODING|NM_001286516.1|1|1)","H1ESC:H3K36me3,K562:H3K4me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:Cmyc,IMR90:H3K36me3,K562:H3K9ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1",,,,0.4898,0.6282,0.6978,0.70,0.66,0.72,,0.018960(N),0.000(P),"-0.08,-0.08(T,T)",0.0000(T),0.081,-1.700991,5.2,5.2,-0.257000,0.816000,1.204000,0.226000,0.623000,0.240000,6.2993
synonymous_variant,DNAJA3,SILENT,NM_005147.5:p.Gly361Gly/c.1083T>A,ggT/ggA,LOW,COSM4129070(1),0.627796,0.6964,rs2304633,,,,,,chr16,4496973,4496973,T,A,het,"synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly361Gly/c.1083T>A|453|DNAJA3|protein_coding|CODING|NM_001135110.2|8|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly208Gly/c.624T>A|300|DNAJA3|protein_coding|CODING|NM_001286516.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly361Gly/c.1083T>A|480|DNAJA3|protein_coding|CODING|NM_005147.5|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4836,0.6052,0.6859,0.70,0.67,0.71,,,,,,,,,,,,,,,,
missense_variant,C16orf96,MISSENSE,NM_001145011.1:p.Ile265Val/c.793A>G,Atc/Gtc,MODERATE,,0.144968,0.131,rs1256768,0.53(T),0.003(B),0.55(N),-1.0309(T),,chr16,4625274,4625274,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile265Val/c.793A>G|1141|C16orf96|protein_coding|CODING|NM_001145011.1|5|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.2546,0.0951,0.163,0.15,0.11,0.16,,,1.000(P),,0.0002(T),0.035,-0.107540,3.33,-6.66,0.379000,-2.190000,-3.668000,0.025000,0.000000,0.000000,7.8742
missense_variant,C16orf96,MISSENSE,NM_001145011.1:p.Pro330Arg/c.989C>G,cCt/cGt,MODERATE,COSM435266(1),0.110823,0.2698,rs77379438,0.47(T),0.883(P),0(N),-1.0495(T),,chr16,4625470,4625470,C,G,het,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro330Arg/c.989C>G|1141|C16orf96|protein_coding|CODING|NM_001145011.1|5|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.1278,0.1441,0.0557,0.04,0.02,0.06,,,1.000(P),,0.0000(T),0.09,2.112756,3.06,2.09,0.407000,0.830000,0.370000,0.093000,0.001000,0.000000,6.5083
missense_variant,C16orf96,MISSENSE,NM_001145011.1:p.Asp486Val/c.1457A>T,gAt/gTt,MODERATE,COSM970736(1),0.155152,0.13,rs2450386,0.27(T),0.028(B),0.805(L),-1.0144(T),,chr16,4625938,4625938,A,T,het,missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp486Val/c.1457A>T|1141|C16orf96|protein_coding|CODING|NM_001145011.1|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2495,0.0965,0.162,0.16,0.15,0.16,,,0.392(P),,0.0002(T),0.048,0.289366,1.78,-3.3,-0.991000,-0.880000,0.330000,0.013000,0.000000,0.001000,0.5877
synonymous_variant,ANKS3,SILENT,NM_133450.3:p.Gln509Gln/c.1527G>A,caG/caA,LOW,COSM435279(3),0.404952,0.624,rs841214,,,,,,chr16,4748825,4748825,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln402Gln/c.1206G>A|549|ANKS3|protein_coding|CODING|NM_001242929.1|10|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln509Gln/c.1527G>A|656|ANKS3|protein_coding|CODING|NM_133450.3|13|1),non_coding_exon_variant(MODIFIER|||n.1825G>A||ANKS3||CODING|NR_040252.1|12|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4325,0.4611,0.4602,0.38,0.22,0.47,,,,,,,,,,,,,,,,
missense_variant,ANKS3,MISSENSE,NM_133450.3:p.Ala404Thr/c.1210G>A,Gct/Act,MODERATE,COSM148013(3),0.51238,0.626,rs863980,1(T),"0.004,0.0(B,B)",0(N),-0.9609(T),,chr16,4751045,4751045,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala297Thr/c.889G>A|549|ANKS3|protein_coding|CODING|NM_001242929.1|8|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala404Thr/c.1210G>A|656|ANKS3|protein_coding|CODING|NM_133450.3|11|1),non_coding_exon_variant(MODIFIER|||n.1508G>A||ANKS3||CODING|NR_040252.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4489,0.5216,0.5398,0.53,0.49,0.55,,0.792789(N),1.000(P),"1.44,3.19,0.94(T,T,T)",0.0000(T),0.086,-0.404636,5.71,-4.46,-1.533000,-1.797000,-0.174000,0.001000,0.000000,0.031000,3.5825
synonymous_variant,ANKS3,SILENT,NM_133450.3:p.Asp326Asp/c.978T>C,gaT/gaC,LOW,,0.529952,0.6478,rs841210,,,,,,chr16,4752134,4752134,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp219Asp/c.657T>C|549|ANKS3|protein_coding|CODING|NM_001242929.1|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp326Asp/c.978T>C|656|ANKS3|protein_coding|CODING|NM_133450.3|9|1),non_coding_exon_variant(MODIFIER|||n.1276T>C||ANKS3||CODING|NR_040252.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.454,0.5331,0.5557,0.55,0.52,0.57,,,,,,,,,,,,,,,,
synonymous_variant,C16orf71,SILENT,NM_139170.2:p.Glu132Glu/c.396G>A,gaG/gaA,LOW,,0.552716,0.6806,rs859305,,,,,,chr16,4790273,4790273,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu132Glu/c.396G>A|520|C16orf71|protein_coding|CODING|NM_139170.2|4|1),,,,,0.4857,0.5548,0.6044,0.58,0.52,0.61,,,,,,,,,,,,,,,,
missense_variant,C16orf71,MISSENSE,NM_139170.2:p.Arg302Cys/c.904C>T,Cgc/Tgc,MODERATE,COSM435287(1),0.551518,0.6776,rs2075469,0.09(T),0.311(B),1.245(L),-1.0027(T),,chr16,4794873,4794873,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg302Cys/c.904C>T|520|C16orf71|protein_coding|CODING|NM_139170.2|6|1),splice_region_variant(LOW|||c.904C>T|520|C16orf71|protein_coding|CODING|NM_139170.2|6|1)",NHEK:H3K36me3,,,,0.4888,0.5576,0.6372,0.60,0.49,0.65,,0.800580(N),1.000(P),2.56(T),0.0000(T),0.103,1.904312,4.02,1.82,0.561000,0.488000,0.399000,0.076000,0.008000,0.000000,4.3239
missense_variant,C16orf71,MISSENSE,NM_139170.2:p.Gln354Arg/c.1061A>G,cAg/cGg,MODERATE,COSM435288(1),0.565895,0.6786,rs737700,0.45(T),0.0(B),0(N),-0.9959(T),,chr16,4796393,4796393,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln354Arg/c.1061A>G|520|C16orf71|protein_coding|CODING|NM_139170.2|7|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.4949,0.5692,0.6481,0.61,0.53,0.66,,0.080735(N),1.000(P),3.32(T),0.0000(T),0.007,-1.227684,3.3,-6.6,-2.018000,-2.323000,-1.218000,0.001000,0.000000,0.000000,3.002
missense_variant,C16orf71,MISSENSE,NM_139170.2:p.Pro465Leu/c.1394C>T,cCt/cTt,MODERATE,,0.427915,0.6528,rs17853375,0.08(T),0.006(B),1.59(L),-0.9045(T),,chr16,4797457,4797457,C,T,hom,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro465Leu/c.1394C>T|520|C16orf71|protein_coding|CODING|NM_139170.2|9|1),"IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4622,0.5086,0.5994,0.44,0.14,0.60,,0.237451(N),1.000(P),1.4(T),0.0000(T),0.031,2.087887,4.89,0.549,-0.521000,-0.045000,-0.107000,0.011000,0.001000,0.000000,4.3323
synonymous_variant,ZNF500,SILENT,NM_021646.1:p.Ala478Ala/c.1434C>A,gcC/gcA,LOW,COSM3754899(5),0.513978,0.6607,rs3747602,,,,,,chr16,4802386,4802386,G,T,hom,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala478Ala/c.1434C>A|480|ZNF500|protein_coding|CODING|NM_021646.1|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.5403,0.6163,0.57,0.45,0.64,,,,,,,,,,,,,,,,
synonymous_variant,ZNF500,SILENT,NM_021646.1:p.Leu124Leu/c.372T>C,ctT/ctC,LOW,,0.934505,0.999,rs4786549,,,,,,chr16,4815608,4815608,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu124Leu/c.372T>C|480|ZNF500|protein_coding|CODING|NM_021646.1|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9726,1,0.94,0.82,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GLYR1,SILENT,NM_032569.3:p.Ser540Ser/c.1620T>C,tcT/tcC,LOW,,0.576677,0.3244,rs8064024,,,,,,chr16,4855279,4855279,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser540Ser/c.1620T>C|553|GLYR1|protein_coding|CODING|NM_032569.3|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.546,0.6484,0.5199,0.58,0.76,0.48,,,,,,,,,,,,,,,,
missense_variant,GLYR1,MISSENSE,NM_032569.3:p.His459Gln/c.1377C>G,caC/caG,MODERATE,,,,rs2085329,0.69(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.735(N),-1.0193(T),,chr16,4861709,4861709,G,C,hom,missense_variant(MODERATE|MISSENSE|caC/caG|p.His459Gln/c.1377C>G|553|GLYR1|protein_coding|CODING|NM_032569.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(N),1.000(P),"1.7,1.7,1.7(T,T,T)",0.0000(T),0.28,0.111634,5.85,0.0979,-0.120000,-0.205000,0.102000,0.996000,0.994000,0.973000,6.4052
synonymous_variant,UBN1,SILENT,NM_001079514.2:p.Val960Val/c.2880T>G,gtT/gtG,LOW,,0.0662939,0.006,rs17137364,,,,,,chr16,4925291,4925291,T,G,het,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val960Val/c.2880T>G|1134|UBN1|protein_coding|CODING|NM_001079514.2|15|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val960Val/c.2880T>G|1104|UBN1|protein_coding|CODING|NM_001288656.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.0331,0.0785,0.09,0.12,0.08,,,,,,,,,,,,,,,,
synonymous_variant,PPL,SILENT,NM_002705.4:p.Gln1583Gln/c.4749A>G,caA/caG,LOW,,0.0700879,0.006,rs17137389,,,,,,chr16,4933907,4933907,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln1583Gln/c.4749A>G|1756|PPL|protein_coding|CODING|NM_002705.4|22|1),downstream_gene_variant(MODIFIER||1505||1134|UBN1|protein_coding|CODING|NM_001079514.2||1),downstream_gene_variant(MODIFIER||1505||1104|UBN1|protein_coding|CODING|NM_001288656.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.036,0.0775,0.10,0.15,0.08,,,,,,,,,,,,,,,,
missense_variant,PPL,MISSENSE,NM_002705.4:p.Gln1573Glu/c.4717C>G,Caa/Gaa,MODERATE,,0.402756,0.6518,rs2037912,1(T),0.977(D),2.14(M),-1.0059(T),,chr16,4933939,4933939,G,C,het,"missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln1573Glu/c.4717C>G|1756|PPL|protein_coding|CODING|NM_002705.4|22|1),downstream_gene_variant(MODIFIER||1537||1134|UBN1|protein_coding|CODING|NM_001079514.2||1),downstream_gene_variant(MODIFIER||1537||1104|UBN1|protein_coding|CODING|NM_001288656.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4683,0.4712,0.5318,0.40,0.12,0.55,,0.000009(D),0.000(P),0.9(T),0.0000(T),0.274,3.469610,5.83,5.83,0.655000,2.769000,9.428000,0.919000,0.998000,1.000000,20.1184
synonymous_variant,PPL,SILENT,NM_002705.4:p.Ser1369Ser/c.4107C>T,agC/agT,LOW,,0.40635,0.6339,rs1049208,,,,,,chr16,4934549,4934549,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser1369Ser/c.4107C>T|1756|PPL|protein_coding|CODING|NM_002705.4|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4663,0.4726,0.5298,0.41,0.13,0.55,,,,,,,,,,,,,,,,
synonymous_variant,PPL,SILENT,NM_002705.4:p.Leu1364Leu/c.4092G>C,ctG/ctC,LOW,,0.420727,0.6478,rs1049207,,,,,,chr16,4934564,4934564,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu1364Leu/c.4092G>C|1756|PPL|protein_coding|CODING|NM_002705.4|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4703,0.4697,0.5308,0.42,0.16,0.55,,,,,,,,,,,,,,,,
synonymous_variant,PPL,SILENT,NM_002705.4:p.Gln1293Gln/c.3879G>A,caG/caA,LOW,,0.0571086,0.006,rs386506685,,,,,,chr16,4934777,4934777,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1293Gln/c.3879G>A|1756|PPL|protein_coding|CODING|NM_002705.4|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.0317,0.0775,0.09,0.11,0.08,,,,,,,,,,,,,,,,
missense_variant,PPL,MISSENSE,NM_002705.4:p.Glu891Gln/c.2671G>C,Gag/Cag,MODERATE,COSM435325(1),0.0327476,0.006,rs35869286,0.03(D),0.018(B),2.28(M),-0.9682(T),,chr16,4935985,4935985,C,G,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu891Gln/c.2671G>C|1756|PPL|protein_coding|CODING|NM_002705.4|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0307,0.0245,0.0706,0.06,0.04,0.07,,0.000004(N),0.984(D),0.32(T),0.0191(T),0.051,0.678938,4.71,3.75,-2.039000,0.430000,6.068000,0.032000,0.050000,1.000000,17.7271
missense_variant,PPL,MISSENSE,NM_002705.4:p.Arg819Ser/c.2457A>C,agA/agC,MODERATE,,0.938299,1,rs2734742,0.74(T),0.0(B),-1.1(N),-0.9850(T),,chr16,4938160,4938160,T,G,hom,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg819Ser/c.2457A>C|1756|PPL|protein_coding|CODING|NM_002705.4|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9784,0.997,0.93,0.80,1.00,,0.045751(N),1.000(P),0.82(T),0.0000(T),0.098,0.341209,5.11,2.92,-0.217000,0.574000,0.644000,0.924000,0.998000,0.993000,3.2969
synonymous_variant,PPL,SILENT,NM_002705.4:p.Cys694Cys/c.2082T>C,tgT/tgC,LOW,,0.928914,1,rs2471844,,,,,,chr16,4940809,4940809,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys694Cys/c.2082T>C|1756|PPL|protein_coding|CODING|NM_002705.4|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9769,0.997,0.92,0.78,1.00,,,,,,,,,,,,,,,,
missense_variant,PPL,MISSENSE,NM_002705.4:p.Arg589Gln/c.1766G>A,cGg/cAg,MODERATE,COSM435328(2),0.39976,0.6399,rs1049205,0.56(T),0.115(B),1.39(L),-0.9540(T),,chr16,4942099,4942099,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg589Gln/c.1766G>A|1756|PPL|protein_coding|CODING|NM_002705.4|15|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4571,0.4654,0.5388,0.41,0.12,0.55,,0.000092(D),0.046(P),1.25(T),0.0000(T),0.122,2.534249,5.35,5.35,0.549000,2.519000,5.278000,0.352000,1.000000,1.000000,6.9724
synonymous_variant,PPL,SILENT,NM_002705.4:p.Val448Val/c.1344G>C,gtG/gtC,LOW,,0.865615,1,rs1876363,,,,,,chr16,4944518,4944518,C,G,hom,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val448Val/c.1344G>C|1756|PPL|protein_coding|CODING|NM_002705.4|12|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9597,0.996,0.85,0.57,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SEC14L5,SILENT,NM_014692.1:p.Gly367Gly/c.1101G>C,ggG/ggC,LOW,COSM4129099(1),0.397364,0.2609,rs2286966,,,,,,chr16,5050897,5050897,G,C,hom,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly367Gly/c.1101G>C|696|SEC14L5|protein_coding|CODING|NM_014692.1|10|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3732,0.4885,0.4742,0.45,0.41,0.47,,,,,,,,,,,,,,,,
synonymous_variant,NAGPA,SILENT,NM_016256.3:p.Asn495Asn/c.1485C>T,aaC/aaT,LOW,COSM3765914(1),0.792532,0.8224,rs386619534,,,,,,chr16,5075542,5075542,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn495Asn/c.1485C>T|515|NAGPA|protein_coding|CODING|NM_016256.3|10|1),"H1ESC:H3K36me3,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K36me3,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF",,,,0.8292,0.6988,0.6581,0.72,0.85,0.65,,,,,,,,,,,,,,,,
synonymous_variant,NAGPA,SILENT,NM_016256.3:p.Gly111Gly/c.333A>G,ggA/ggG,LOW,,0.730232,0.8274,rs2972272,,,,,,chr16,5083483,5083483,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly111Gly/c.333A>G|515|NAGPA|protein_coding|CODING|NM_016256.3|2|1),upstream_gene_variant(MODIFIER||220|||NAGPA-AS1||NON_CODING|NR_038913.1||1)","NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.8354,0.6988,0.6849,0.68,0.68,0.69,,,,,,,,,,,,,,,,
synonymous_variant,C16orf89,SILENT,NM_152459.4:p.Gly211Gly/c.633G>A,ggG/ggA,LOW,,0.522963,0.5665,rs741164,,,,,,chr16,5106184,5106184,C,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly211Gly/c.633G>A|361|C16orf89|protein_coding|CODING|NM_001098514.2|5|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly211Gly/c.633G>A|402|C16orf89|protein_coding|CODING|NM_152459.4|5|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.456,0.6398,0.6292,0.57,0.46,0.62,,,,,,,,,,,,,,,,
missense_variant,TMEM114,MISSENSE,NM_001146336.1:p.Arg80Thr/c.239G>C,aGg/aCg,MODERATE,,,,,0.56(T),0.6(P),1.245(L),-0.9940(T),,chr16,8619907,8619907,C,G,het,"missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg80Thr/c.239G>C|122|TMEM114|protein_coding|CODING|NM_001146336.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg34Thr/c.101G>C|76|TMEM114|protein_coding|CODING|NM_001290095.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg80Thr/c.239G>C|122|TMEM114|protein_coding|CODING|NM_001290097.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,0.0869(T),0.254,0.973240,4.79,2.69,0.555000,1.017000,2.107000,0.663000,1.000000,1.000000,1.12
synonymous_variant,METTL22,SILENT,NM_024109.2:p.Leu291Leu/c.871T>C,Ttg/Ctg,LOW,,0.985823,1,rs1614616,,,,,,chr16,8736028,8736028,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu291Leu/c.871T>C|404|METTL22|protein_coding|CODING|NM_024109.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,METTL22,SILENT,NM_024109.2:p.Leu342Leu/c.1024T>C,Ttg/Ctg,LOW,,0.985823,1,rs1641066,,,,,,chr16,8738427,8738427,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu342Leu/c.1024T>C|404|METTL22|protein_coding|CODING|NM_024109.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,METTL22,MISSENSE,NM_024109.2:p.Ala366Thr/c.1096G>A,Gca/Aca,MODERATE,,0.986222,1,rs1731000,0.57(T),"0.004,0.002(B,B)",1.7(L),-0.9856(T),,chr16,8738499,8738499,G,A,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala366Thr/c.1096G>A|404|METTL22|protein_coding|CODING|NM_024109.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.99,0.96,1.00,,0.666442(N),1.000(P),2.23(T),0.0000(T),0.223,-0.248409,5.47,-4.67,-0.439000,-0.577000,-0.065000,0.009000,0.000000,0.000000,3.3287
synonymous_variant,METTL22,SILENT,NM_024109.2:p.Gln392Gln/c.1176A>G,caA/caG,LOW,COSM3755168(1),0.985823,1,rs1641067,,,,,,chr16,8738579,8738579,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln392Gln/c.1176A>G|404|METTL22|protein_coding|CODING|NM_024109.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ABAT,SILENT,NM_000663.4:p.Val103Val/c.309C>T,gtC/gtT,LOW,COSM3755186(3),0.104832,0.1756,rs2229157,,,,,,chr16,8844389,8844389,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val103Val/c.309C>T|500|ABAT|protein_coding|CODING|NM_000663.4|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val103Val/c.309C>T|500|ABAT|protein_coding|CODING|NM_001127448.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val103Val/c.309C>T|500|ABAT|protein_coding|CODING|NM_020686.5|5|1)","CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.138,0.0994,0.1034,0.09,0.05,0.11,,,,,,,,,,,,,,,,
synonymous_variant,CARHSP1,SILENT,NM_001042476.2:p.Thr80Thr/c.240T>C,acT/acC,LOW,,0.96885,1,rs988065,,,,,,chr16,8952248,8952248,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001042476.2|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001278260.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001278261.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001278262.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001278263.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001278264.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001278265.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_001278266.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr80Thr/c.240T>C|147|CARHSP1|protein_coding|CODING|NM_014316.3|3|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,HepG2:FOSL2,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,1,0.9885,1,0.97,0.91,1.00,,,,,,,,,,,,,,,,
synonymous_variant,USP7,SILENT,NM_001286457.1:p.Leu9Leu/c.27G>C,ctG/ctC,LOW,,0.977436,0.9901,rs1382390,,,,,,chr16,9030444,9030444,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu9Leu/c.27G>C|1086|USP7|protein_coding|CODING|NM_001286457.1|1|1),5_prime_UTR_variant(MODIFIER||13287|c.-398G>C|1003|USP7|protein_coding|CODING|NM_001286458.1|1|1),intron_variant(MODIFIER|||c.80-6190G>C|1102|USP7|protein_coding|CODING|NM_003470.2|1|1)","NHEK:CTCF,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,GM12878:H3K79me2,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,HeLa-S3:CTCF,GM12878:CTCF,HSMM:DNase1,NH-A:DNase1,CD4:H2BK5me1,HMEC:CTCF,NH-A:CTCF,CD4:H3K4me1,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,K562:H3K79me2,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,1,0.9914,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ATF7IP2,SILENT,NM_024997.3:p.Pro589Pro/c.1767C>A,ccC/ccA,LOW,COSM1179765(3),0.466054,0.5704,rs1970817,,,,,,chr16,10575824,10575824,C,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro589Pro/c.1767C>A|682|ATF7IP2|protein_coding|CODING|NM_024997.3|12|1),3_prime_UTR_variant(MODIFIER||68|c.*68C>A|543|ATF7IP2|protein_coding|CODING|NM_001256160.1|12|1),non_coding_exon_variant(MODIFIER|||n.1768C>A||ATF7IP2||CODING|NR_045815.1|10|1),non_coding_exon_variant(MODIFIER|||n.1762C>A||ATF7IP2||CODING|NR_045816.1|10|1)","K562:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.499,0.5173,0.5179,0.46,0.33,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TEKT5,SILENT,NM_144674.1:p.Arg109Arg/c.325C>A,Cgg/Agg,LOW,,0.328075,0.5407,rs9922129,,,,,,chr16,10788406,10788406,G,T,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg109Arg/c.325C>A|485|TEKT5|protein_coding|CODING|NM_144674.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.32,0.4323,0.2266,0.22,0.22,0.22,,,,,,,,,,,,,,,,
missense_variant,CIITA,MISSENSE,NM_001286402.1:p.Arg175Gly/c.523A>G,Aga/Gga,MODERATE,COSM4128622(1),0.98722,1,rs8046121,0.55(T),"0.0,0.0(B,B)",-0.69(N),-0.9760(T),,chr16,10995933,10995933,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg174Gly/c.520A>G|1130|CIITA|protein_coding|CODING|NM_000246.3|7|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg175Gly/c.523A>G|1131|CIITA|protein_coding|CODING|NM_001286402.1|7|1),intron_variant(MODIFIER|||c.481+518A>G|546|CIITA|protein_coding|CODING|NM_001286403.1|6|1),non_coding_exon_variant(MODIFIER|||n.653A>G||CIITA||CODING|NR_104444.1|7|1)","GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9971,0.999,0.98,0.95,1.00,,,0.000(P),-0.52(T),0.0000(T),0.409,0.101201,4.09,4.09,-0.355000,0.855000,1.716000,0.016000,0.864000,0.747000,8.2928
missense_variant,CIITA,MISSENSE,NM_001286402.1:p.Gly501Ala/c.1502G>C,gGc/gCc,MODERATE,COSM434601(3),0.258986,0.1329,rs4774,0.4(T),"0.012,0.024,0.005(B,B,B)",0.775(N),-0.9696(T),,chr16,11000848,11000848,G,C,het,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly500Ala/c.1499G>C|1130|CIITA|protein_coding|CODING|NM_000246.3|11|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly501Ala/c.1502G>C|1131|CIITA|protein_coding|CODING|NM_001286402.1|11|1),intron_variant(MODIFIER|||c.860-1992G>C|546|CIITA|protein_coding|CODING|NM_001286403.1|9|1),intron_variant(MODIFIER|||n.1139+2179G>C||CIITA||CODING|NR_104444.1|10|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2454,0.428,0.2724,0.28,0.26,0.29,,0.059640(N),1.000(P),-1.49(T),0.0000(T),0.101,-1.704285,5.27,-0.799,-0.216000,-0.719000,0.706000,0.405000,0.011000,0.872000,24.3173
synonymous_variant,CIITA,SILENT,NM_001286402.1:p.Pro799Pro/c.2397G>A,ccG/ccA,LOW,COSM3754602(3),0.189297,0.3145,rs2229320,,,,,,chr16,11001743,11001743,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro798Pro/c.2394G>A|1130|CIITA|protein_coding|CODING|NM_000246.3|11|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro799Pro/c.2397G>A|1131|CIITA|protein_coding|CODING|NM_001286402.1|11|1),intron_variant(MODIFIER|||c.860-1097G>A|546|CIITA|protein_coding|CODING|NM_001286403.1|9|1),intron_variant(MODIFIER|||n.1140-2302G>A||CIITA||CODING|NR_104444.1|10|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2935,0.1499,0.2217,0.15,0.05,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CIITA,SILENT,NM_001286402.1:p.Leu808Leu/c.2424G>T,ctG/ctT,LOW,COSM329251(2),0.215855,0.1329,rs34654419,,,,,,chr16,11001770,11001770,G,T,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu807Leu/c.2421G>T|1130|CIITA|protein_coding|CODING|NM_000246.3|11|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu808Leu/c.2424G>T|1131|CIITA|protein_coding|CODING|NM_001286402.1|11|1),intron_variant(MODIFIER|||c.860-1070G>T|546|CIITA|protein_coding|CODING|NM_001286403.1|9|1),intron_variant(MODIFIER|||n.1140-2275G>T||CIITA||CODING|NR_104444.1|10|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2229,0.3876,0.1869,0.20,0.19,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CIITA,SILENT,NM_001286402.1:p.Thr893Thr/c.2679G>A,acG/acA,LOW,,0.663139,0.8671,rs2228238,,,,,,chr16,11002904,11002904,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr308Thr/c.924G>A|546|CIITA|protein_coding|CODING|NM_001286403.1|10|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr892Thr/c.2676G>A|1130|CIITA|protein_coding|CODING|NM_000246.3|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr893Thr/c.2679G>A|1131|CIITA|protein_coding|CODING|NM_001286402.1|12|1),intron_variant(MODIFIER|||n.1140-1141G>A||CIITA||CODING|NR_104444.1|10|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7393,0.5504,0.7137,0.63,0.51,0.70,,,,,,,,,,,,,,,,
missense_variant,CIITA,MISSENSE,NM_001286402.1:p.Gln901Arg/c.2702A>G,cAg/cGg,MODERATE,,0.928714,1,rs7197779,0.47(T),"0.002,0.0(B,B)",1.32(L),-0.9796(T),,chr16,11002927,11002927,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln316Arg/c.947A>G|546|CIITA|protein_coding|CODING|NM_001286403.1|10|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln900Arg/c.2699A>G|1130|CIITA|protein_coding|CODING|NM_000246.3|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln901Arg/c.2702A>G|1131|CIITA|protein_coding|CODING|NM_001286402.1|12|1),intron_variant(MODIFIER|||n.1140-1118A>G||CIITA||CODING|NR_104444.1|10|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.999,0.9856,0.998,0.92,0.76,1.00,,0.074369(N),1.000(P),"-0.68,1.7(T,T)",0.0000(T),0.029,-0.019857,4.85,-0.248,-1.374000,-0.419000,0.884000,0.041000,0.872000,0.824000,11.0257
synonymous_variant,CIITA,SILENT,NM_001286402.1:p.Cys1058Cys/c.3174C>T,tgC/tgT,LOW,COSM3754604(2),0.104832,0.1865,rs2229322,,,,,,chr16,11016045,11016045,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1057Cys/c.3171C>T|1130|CIITA|protein_coding|CODING|NM_000246.3|17|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1058Cys/c.3174C>T|1131|CIITA|protein_coding|CODING|NM_001286402.1|17|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys473Cys/c.1419C>T|546|CIITA|protein_coding|CODING|NM_001286403.1|15|1),non_coding_exon_variant(MODIFIER|||n.1494C>T||CIITA||CODING|NR_104444.1|15|1)","HepG2:H3K4me2,GM12878:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,HepG2:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0593,0.1081,0.0994,0.10,0.08,0.11,,,,,,,,,,,,,,,,
synonymous_variant,CLEC16A,SILENT,NM_015226.2:p.Tyr92Tyr/c.276C>T,taC/taT,LOW,COSM148020(1),0.128994,0.121,rs16957839,,,,,,chr16,11056378,11056378,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr92Tyr/c.276C>T|906|CLEC16A|protein_coding|CODING|NM_001243403.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr92Tyr/c.276C>T|1053|CLEC16A|protein_coding|CODING|NM_015226.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1462,0.1009,0.1352,0.13,0.14,0.13,,,,,,,,,,,,,,,,
synonymous_variant,CLEC16A,SILENT,NM_015226.2:p.Val669Val/c.2007G>A,gtG/gtA,LOW,COSM148021(3),0.496406,0.3363,rs2286973,,,,,,chr16,11154770,11154770,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val651Val/c.1953G>A|906|CLEC16A|protein_coding|CODING|NM_001243403.1|18|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val669Val/c.2007G>A|1053|CLEC16A|protein_coding|CODING|NM_015226.2|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.3458,0.4135,0.52,0.70,0.43,,,,,,,,,,,,,,,,
stop_gained,PRM3,NONSENSE,NM_021247.2:p.Arg104*/c.310C>T,Cga/Tga,HIGH,,0.956669,1,rs438289,,,,,,chr16,11367143,11367143,G,A,hom,stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg104*/c.310C>T|103|PRM3|protein_coding|CODING|NM_021247.2|1|1),HepG2:H3K27ac,,,,0.998,0.9856,0.997,0.96,0.89,0.99,,,,,,,,,,,,,,,,
missense_variant,PRM3,MISSENSE,NM_021247.2:p.Arg100Gln/c.299G>A,cGg/cAg,MODERATE,,0.770168,0.4692,rs429744,1(T),,,-0.9485(T),,chr16,11367154,11367154,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg100Gln/c.299G>A|103|PRM3|protein_coding|CODING|NM_021247.2|1|1),HepG2:H3K27ac,,,,0.8885,0.8646,0.8986,0.90,0.82,0.94,,0.976596(N),0.001(P),1.16(T),0.0000(T),0.015,-1.433416,4.54,1.2,-0.254000,0.060000,0.547000,0.004000,0.761000,0.947000,0.7793
missense_variant,PRM3,MISSENSE,NM_021247.2:p.His86Gln/c.258C>G,caC/caG,MODERATE,,0.0940495,0.0387,rs35598356,0.54(T),,,-1.0644(T),,chr16,11367195,11367195,G,C,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His86Gln/c.258C>G|103|PRM3|protein_coding|CODING|NM_021247.2|1|1),HepG2:H3K27ac,,,,0.1063,0.1585,0.2008,0.13,0.03,0.18,,0.371033(N),1.000(P),1.04(T),0.0001(T),0.01,-0.412073,4.82,-9.63,-3.196000,-2.916000,-3.559000,0.000000,0.000000,0.000000,0.7477
missense_variant,LITAF,MISSENSE,NM_001136472.1:p.Ile92Val/c.274A>G,Atc/Gtc,MODERATE,,0.102636,0.0625,rs4280262,1(T),"0.003,0.001(B,B)",-1.64(N),-1.0349(T),,chr16,11647492,11647492,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile92Val/c.274A>G|161|LITAF|protein_coding|CODING|NM_001136472.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile92Val/c.274A>G|152|LITAF|protein_coding|CODING|NM_001136473.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile92Val/c.274A>G|161|LITAF|protein_coding|CODING|NM_004862.3|3|1),non_coding_exon_variant(MODIFIER|||n.408A>G||LITAF||CODING|NR_024320.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.089,0.1513,0.2058,0.17,0.07,0.21,,0.000408(N),0.000(P),"-2.02,-2.02,-2.02(D,D,D)",0.0001(T),0.193,-2.004687,5.38,1.12,-0.119000,0.009000,0.244000,0.028000,0.100000,0.046000,9.8475
synonymous_variant,SNN,SILENT,NM_003498.5:p.Gly11Gly/c.33C>T,ggC/ggT,LOW,COSM1749403(3),0.246605,0.254,rs1050068,,,,,,chr16,11769948,11769948,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly11Gly/c.33C>T|88|SNN|protein_coding|CODING|NM_003498.5|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3282,0.2017,0.4672,0.35,0.11,0.47,,,,,,,,,,,,,,,,
synonymous_variant,SNN,SILENT,NM_003498.5:p.Ile16Ile/c.48C>T,atC/atT,LOW,COSM3754609(2),0.255791,0.252,rs1050069,,,,,,chr16,11769963,11769963,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile16Ile/c.48C>T|88|SNN|protein_coding|CODING|NM_003498.5|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.2032,0.4672,0.35,0.13,0.47,,,,,,,,,,,,,,,,
missense_variant,TXNDC11,MISSENSE,NM_015914.5:p.Val756Leu/c.2266G>C,Gtc/Ctc,MODERATE,COSM3754610(1),0.451877,0.4345,rs3190321,0.86(T),"0.001,0.0(B,B)",-0.895(N),-0.9595(T),,chr16,11773662,11773662,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val756Leu/c.2266G>C|958|TXNDC11|protein_coding|CODING|NM_015914.5|12|1),downstream_gene_variant(MODIFIER||647||88|SNN|protein_coding|CODING|NM_003498.5||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4744,0.3285,0.5557,0.51,0.44,0.54,,0.005449(N),1.000(P),"2.95,2.73(T,T)",0.0000(T),0.04,-0.480073,5.91,3.63,-0.764000,0.850000,1.521000,0.687000,1.000000,1.000000,9.1018
missense_variant,TXNDC11,MISSENSE,NM_015914.5:p.Ala609Val/c.1826C>T,gCg/gTg,MODERATE,,0.000998403,0,rs17674449,1(T),"0.276,0.815(B,P)",1.795(L),-1.0603(T),,chr16,11785220,11785220,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala609Val/c.1826C>T|958|TXNDC11|protein_coding|CODING|NM_015914.5|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.002,0.00,0.00,0.00,,0.000000(D),1.000(D),"1.91,1.91(T,T)",0.0770(T),0.824,3.589040,5.81,5.81,0.655000,2.746000,6.838000,0.615000,0.939000,1.000000,19.0707
synonymous_variant,RSL1D1,SILENT,NM_015659.2:p.Thr201Thr/c.603A>G,acA/acG,LOW,COSM148023(2),0.703474,0.4355,rs8052900,,,,,,chr16,11940390,11940390,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr201Thr/c.603A>G|490|RSL1D1|protein_coding|CODING|NM_015659.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.59,0.7983,0.6551,0.75,0.93,0.66,,,,,,,,,,,,,,,,
synonymous_variant,GSPT1,SILENT,NM_002094.3:p.Gly299Gly/c.897C>T,ggC/ggT,LOW,,0.120008,0.0109,rs3752426,,,,,,chr16,11981487,11981487,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly298Gly/c.894C>T|636|GSPT1|protein_coding|CODING|NM_001130006.1|7|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly161Gly/c.483C>T|499|GSPT1|protein_coding|CODING|NM_001130007.1|7|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly299Gly/c.897C>T|637|GSPT1|protein_coding|CODING|NM_002094.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.091,0.2075,0.3211,0.25,0.08,0.34,,,,,,,,,,,,,,,,
missense_variant,GSPT1,MISSENSE,NM_002094.3:p.Val100Ala/c.299T>C,gTt/gCt,MODERATE,COSM3749324(6),0.985024,1,rs424518,1(T),0.0(B),,-0.9838(T),,chr16,12009279,12009279,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val100Ala/c.299T>C|636|GSPT1|protein_coding|CODING|NM_001130006.1|1|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val100Ala/c.299T>C|637|GSPT1|protein_coding|CODING|NM_002094.3|1|1),intron_variant(MODIFIER|||c.-63+620T>C|499|GSPT1|protein_coding|CODING|NM_001130007.1|1|1)","NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,GM12878:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9957,1,0.99,0.96,1.00,,0.265704(N),1.000(P),"1.66,1.68(T,T)",0.0000(T),0.054,-1.259008,4.02,1.94,-1.194000,0.353000,0.637000,0.009000,0.000000,0.985000,5.5037
missense_variant,GSPT1,MISSENSE,NM_002094.3:p.Gly92Cys/c.274G>T,Ggc/Tgc,MODERATE,COSM3754615(2),0.302716,0.2063,rs11544193,0.01(D),0.996(D),,-0.9014(T),,chr16,12009304,12009304,C,A,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly92Cys/c.274G>T|636|GSPT1|protein_coding|CODING|NM_001130006.1|1|1),missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly92Cys/c.274G>T|637|GSPT1|protein_coding|CODING|NM_002094.3|1|1),intron_variant(MODIFIER|||c.-63+595G>T|499|GSPT1|protein_coding|CODING|NM_001130007.1|1|1)","NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.3415,0.4438,0.5507,0.45,0.16,0.58,,0.440919(U),0.000(P),"1.47,1.47(T,T)",0.0000(T),0.185,3.109685,4.57,4.57,0.556000,2.062000,1.202000,0.011000,0.988000,0.983000,12.7153
missense_variant,TNFRSF17,MISSENSE,NM_001192.2:p.Asn81Ser/c.242A>G,aAc/aGc,MODERATE,,0.961262,1,rs373496,1(T),"0.001,0.0(B,B)",0.425(N),-0.9754(T),,chr16,12060163,12060163,A,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn81Ser/c.242A>G|184|TNFRSF17|protein_coding|CODING|NM_001192.2|2|1),"GM12878:H3K4me3,GM12878:H3K27ac,GM12878:MEF2C,GM06990:H3K4me3,GM12878:SP1,GM12878:MEF2A,GM12878:IRF4,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:PU1,GM06990:DNase1",,,,0.9734,0.9914,0.9891,0.96,0.90,0.99,,0.999770(N),0.999(P),2.97(T),0.0000(T),0.069,-2.209588,5.84,-3.14,-1.595000,-0.750000,-1.103000,0.024000,0.003000,0.000000,7.1764
missense_variant,SNX29,MISSENSE,NM_032167.3:p.Gly279Ala/c.836G>C,gGg/gCg,MODERATE,,0.00678914,0.001,rs118191509,0.84(T),,0.895(L),-1.0346(T),,chr16,12145791,12145791,G,C,het,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly279Ala/c.836G>C|813|SNX29|protein_coding|CODING|NM_032167.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0014,0.0229,0.02,0.01,0.03,,0.005122(N),1.000(D),,0.0595(T),0.119,0.060912,5.78,4.82,0.313000,1.447000,3.912000,0.455000,0.231000,1.000000,14.9466
synonymous_variant,SNX29,SILENT,NM_032167.3:p.Pro433Pro/c.1299A>G,ccA/ccG,LOW,COSM3754617(1),0.609026,0.5258,rs1641843,,,,,,chr16,12162969,12162969,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro433Pro/c.1299A>G|813|SNX29|protein_coding|CODING|NM_032167.3|10|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6472,0.5014,0.4632,0.51,0.74,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SNX29,SILENT,NM_032167.3:p.Phe792Phe/c.2376C>T,ttC/ttT,LOW,,0.326278,0.4524,rs2288423,,,,,,chr16,12662420,12662420,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe792Phe/c.2376C>T|813|SNX29|protein_coding|CODING|NM_032167.3|21|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2699,0.2017,0.2306,0.26,0.34,0.22,,,,,,,,,,,,,,,,
missense_variant,CPPED1,MISSENSE,NM_018340.2:p.Lys241Arg/c.722A>G,aAa/aGa,MODERATE,,0.730232,0.5367,rs1713480,0.44(T),"0.015,0.02(B,B)",0.805(L),-0.9896(T),,chr16,12758966,12758966,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys99Arg/c.296A>G|172|CPPED1|protein_coding|CODING|NM_001099455.1|3|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys241Arg/c.722A>G|314|CPPED1|protein_coding|CODING|NM_018340.2|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.7658,0.7305,0.9453,0.89,0.76,0.94,,0.000058(N),0.000(P),"-2.04,-3.41(D,D)",0.0000(T),0.054,1.356647,5.87,-0.704,-0.408000,-0.307000,0.265000,0.796000,0.335000,0.906000,5.4337
missense_variant,CPPED1,MISSENSE,NM_018340.2:p.Ala19Asp/c.56C>A,gCc/gAc,MODERATE,,0.371006,0.4018,rs3748976,0.76(T),"0.0,0.0(B,B)",-1.39(N),-1.0643(T),,chr16,12897578,12897578,G,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala19Asp/c.56C>A|172|CPPED1|protein_coding|CODING|NM_001099455.1|1|1),missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala19Asp/c.56C>A|314|CPPED1|protein_coding|CODING|NM_018340.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,CD4:H3K18ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,HepG2:Srf,H1ESC:TAF1,CD4:H2BK5ac,HepG2:p300,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:HDAC2,H1ESC:H3K27ac,GM12878:SIX5,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:BCLAF1,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HNF4G,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,GM12878:ZEB1,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,GM12878:MEF2A,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:HNF4A,GM12878:TAF1,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,GM12878:Rad21,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ",,,,0.1595,0.2637,0.1421,0.31,0.59,0.18,,0.005578(N),1.000(P),"4.06,4.13,4.06(T,T,T)",0.0000(T),0.101,0.581246,4.81,4.81,-0.534000,0.870000,1.878000,0.781000,1.000000,1.000000,8.6703
missense_variant,SHISA9,MISSENSE,NM_001145205.1:p.Met196Thr/c.587T>C,aTg/aCg,MODERATE,,0.854633,1,rs9938751,0.14(T),0.0(B),0(N),-1.0409(T),,chr16,13002359,13002359,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met196Thr/c.587T>C|221|SHISA9|protein_coding|CODING|NM_001145205.1|2|1),intron_variant(MODIFIER|||c.563+5875T>C|424|SHISA9|protein_coding|CODING|NM_001145204.2|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.9775,0.9107,0.8429,0.80,0.68,0.86,,,1.000(P),,0.0000(T),0.01,0.437412,2.98,2.03,-0.197000,0.296000,0.993000,0.001000,0.001000,0.002000,5.2989
synonymous_variant,MKL2,SILENT,NM_014048.3:p.Ala135Ala/c.405T>C,gcT/gcC,LOW,COSM148026(2),0.151158,0.2986,rs226788,,,,,,chr16,14311035,14311035,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala135Ala/c.405T>C|1049|MKL2|protein_coding|CODING|NM_014048.3|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2229,0.0778,0.0984,0.05,0.06,0.05,,,,,,,,,,,,,,,,
missense_variant,BFAR,MISSENSE,NM_016561.2:p.Met140Arg/c.419T>G,aTg/aGg,MODERATE,COSM1376003(1),0.251997,0.1558,rs11546303,1(T),0.0(B),-1.04(N),-0.9231(T),,chr16,14742400,14742400,T,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aGg|p.Met140Arg/c.419T>G|450|BFAR|protein_coding|CODING|NM_016561.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2812,0.4049,0.3917,0.32,0.18,0.39,,0.000001(N),0.000(P),3.38(T),0.0000(T),0.093,-0.294767,6.08,6.08,-0.121000,1.599000,3.507000,0.325000,1.000000,1.000000,16.121
missense_variant,PDXDC1,MISSENSE,NM_015027.3:p.Ile82Met/c.246C>G,atC/atG,MODERATE,COSM1744075(3),,,rs11549900,0.16(T),"0.02,0.005,0.012,0.025(B,B,B,B)",0(N),-0.9140(T),,chr16,15098047,15098047,C,G,het,"missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile55Met/c.165C>G|761|PDXDC1|protein_coding|CODING|NM_001285444.1|4|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile54Met/c.162C>G|760|PDXDC1|protein_coding|CODING|NM_001285445.1|4|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile67Met/c.201C>G|773|PDXDC1|protein_coding|CODING|NM_001285447.1|5|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile82Met/c.246C>G|498|PDXDC1|protein_coding|CODING|NM_001285449.1|5|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile82Met/c.246C>G|429|PDXDC1|protein_coding|CODING|NM_001285450.1|5|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile82Met/c.246C>G|788|PDXDC1|protein_coding|CODING|NM_015027.3|5|1),intron_variant(MODIFIER|||c.117-2204C>G|697|PDXDC1|protein_coding|CODING|NM_001285448.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.002527(N),0.000(P),"1.17,1.17,1.17,2.07,1.17(T,T,T,T,T)",0.0000(T),0.394,0.415784,5.72,2.76,-0.142000,0.455000,1.821000,0.351000,1.000000,1.000000,9.1032
synonymous_variant,PDXDC1,SILENT,NM_015027.3:p.His725His/c.2175C>T,caC/caT,LOW,COSM3754675(2),0.16234,0.003,rs3198697,,,,,,chr16,15129940,15129940,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His698His/c.2094C>T|761|PDXDC1|protein_coding|CODING|NM_001285444.1|22|1),synonymous_variant(LOW|SILENT|caC/caT|p.His697His/c.2091C>T|760|PDXDC1|protein_coding|CODING|NM_001285445.1|22|1),synonymous_variant(LOW|SILENT|caC/caT|p.His710His/c.2130C>T|773|PDXDC1|protein_coding|CODING|NM_001285447.1|23|1),synonymous_variant(LOW|SILENT|caC/caT|p.His634His/c.1902C>T|697|PDXDC1|protein_coding|CODING|NM_001285448.1|22|1),synonymous_variant(LOW|SILENT|caC/caT|p.His725His/c.2175C>T|788|PDXDC1|protein_coding|CODING|NM_015027.3|23|1),downstream_gene_variant(MODIFIER||1770||205|NTAN1|protein_coding|CODING|NM_001270766.1||1),downstream_gene_variant(MODIFIER||1770||205|NTAN1|protein_coding|CODING|NM_001270767.1||1),downstream_gene_variant(MODIFIER||1770||310|NTAN1|protein_coding|CODING|NM_173474.3||1),intron_variant(MODIFIER|||c.1399+6027C>T|498|PDXDC1|protein_coding|CODING|NM_001285449.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2372,0.2133,0.3976,0.31,0.09,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PDXDC1,SILENT,NM_015027.3:p.Leu735Leu/c.2205A>G,ctA/ctG,LOW,COSM3754676(2),0.345048,0.371,rs7200543,,,,,,chr16,15129970,15129970,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu708Leu/c.2124A>G|761|PDXDC1|protein_coding|CODING|NM_001285444.1|22|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu707Leu/c.2121A>G|760|PDXDC1|protein_coding|CODING|NM_001285445.1|22|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu720Leu/c.2160A>G|773|PDXDC1|protein_coding|CODING|NM_001285447.1|23|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu644Leu/c.1932A>G|697|PDXDC1|protein_coding|CODING|NM_001285448.1|22|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu735Leu/c.2205A>G|788|PDXDC1|protein_coding|CODING|NM_015027.3|23|1),downstream_gene_variant(MODIFIER||1740||205|NTAN1|protein_coding|CODING|NM_001270766.1||1),downstream_gene_variant(MODIFIER||1740||205|NTAN1|protein_coding|CODING|NM_001270767.1||1),downstream_gene_variant(MODIFIER||1740||310|NTAN1|protein_coding|CODING|NM_173474.3||1),intron_variant(MODIFIER|||c.1399+6057A>G|498|PDXDC1|protein_coding|CODING|NM_001285449.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Metabolic_traits,,,0.4417,0.5331,0.3062,0.28,0.23,0.30,,,,,,,,,,,,,,,,
missense_variant,NTAN1,MISSENSE,NM_173474.3:p.Ser287Pro/c.859T>C,Tct/Cct,MODERATE,COSM3754677(1),0.34405,0.37,rs1135999,1(T),0.0(B),-2.54(N),-0.9284(T),,chr16,15131962,15131962,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser182Pro/c.544T>C|205|NTAN1|protein_coding|CODING|NM_001270766.1|9|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser182Pro/c.544T>C|205|NTAN1|protein_coding|CODING|NM_001270767.1|8|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser287Pro/c.859T>C|310|NTAN1|protein_coding|CODING|NM_173474.3|10|1),3_prime_UTR_variant(MODIFIER||1830|c.*1830A>G|761|PDXDC1|protein_coding|CODING|NM_001285444.1|22|1),3_prime_UTR_variant(MODIFIER||1830|c.*1830A>G|760|PDXDC1|protein_coding|CODING|NM_001285445.1|22|1),3_prime_UTR_variant(MODIFIER||1830|c.*1830A>G|773|PDXDC1|protein_coding|CODING|NM_001285447.1|23|1),3_prime_UTR_variant(MODIFIER||1830|c.*1830A>G|697|PDXDC1|protein_coding|CODING|NM_001285448.1|22|1),3_prime_UTR_variant(MODIFIER||1830|c.*1830A>G|788|PDXDC1|protein_coding|CODING|NM_015027.3|23|1),intron_variant(MODIFIER|||c.1399+8049A>G|498|PDXDC1|protein_coding|CODING|NM_001285449.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.4376,0.5331,0.3072,0.27,0.22,0.30,,0.000000(N),0.000(P),1.9(T),0.0000(T),0.089,0.729487,5.87,5.87,-0.119000,1.644000,5.104000,0.977000,1.000000,1.000000,14.696
missense_variant,NTAN1,MISSENSE,NM_173474.3:p.His283Asn/c.847C>A,Cac/Aac,MODERATE,COSM3754678(1),0.343251,0.3661,rs1136001,0.5(T),0.0(B),-0.805(N),-0.9124(T),,chr16,15131974,15131974,G,T,het,"missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His178Asn/c.532C>A|205|NTAN1|protein_coding|CODING|NM_001270766.1|9|1),missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His178Asn/c.532C>A|205|NTAN1|protein_coding|CODING|NM_001270767.1|8|1),missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His283Asn/c.847C>A|310|NTAN1|protein_coding|CODING|NM_173474.3|10|1),3_prime_UTR_variant(MODIFIER||1842|c.*1842G>T|761|PDXDC1|protein_coding|CODING|NM_001285444.1|22|1),3_prime_UTR_variant(MODIFIER||1842|c.*1842G>T|760|PDXDC1|protein_coding|CODING|NM_001285445.1|22|1),3_prime_UTR_variant(MODIFIER||1842|c.*1842G>T|773|PDXDC1|protein_coding|CODING|NM_001285447.1|23|1),3_prime_UTR_variant(MODIFIER||1842|c.*1842G>T|697|PDXDC1|protein_coding|CODING|NM_001285448.1|22|1),3_prime_UTR_variant(MODIFIER||1842|c.*1842G>T|788|PDXDC1|protein_coding|CODING|NM_015027.3|23|1),intron_variant(MODIFIER|||c.1399+8061G>T|498|PDXDC1|protein_coding|CODING|NM_001285449.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Height,,,0.4376,0.5331,0.3072,0.28,0.23,0.30,,0.009345(N),1.000(P),1.65(T),0.0000(T),0.018,-0.522108,5.35,1.84,-1.131000,-0.026000,0.598000,0.756000,0.000000,0.000000,6.9113
synonymous_variant,NTAN1,SILENT,NM_173474.3:p.Ala192Ala/c.576A>C,gcA/gcC,LOW,COSM3754679(1),0.344649,0.372,rs14347,,,,,,chr16,15133889,15133889,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala87Ala/c.261A>C|205|NTAN1|protein_coding|CODING|NM_001270766.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala87Ala/c.261A>C|205|NTAN1|protein_coding|CODING|NM_001270767.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala192Ala/c.576A>C|310|NTAN1|protein_coding|CODING|NM_173474.3|8|1),downstream_gene_variant(MODIFIER||1702||761|PDXDC1|protein_coding|CODING|NM_001285444.1||1),downstream_gene_variant(MODIFIER||1702||760|PDXDC1|protein_coding|CODING|NM_001285445.1||1),downstream_gene_variant(MODIFIER||1702||773|PDXDC1|protein_coding|CODING|NM_001285447.1||1),downstream_gene_variant(MODIFIER||1702||697|PDXDC1|protein_coding|CODING|NM_001285448.1||1),downstream_gene_variant(MODIFIER||1702||788|PDXDC1|protein_coding|CODING|NM_015027.3||1),intron_variant(MODIFIER|||c.1399+9976T>G|498|PDXDC1|protein_coding|CODING|NM_001285449.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4376,0.5331,0.3072,0.28,0.23,0.30,,,,,,,,,,,,,,,,
missense_variant,RRN3,MISSENSE,NM_018427.4:p.Ser199Leu/c.596C>T,tCg/tTg,MODERATE,COSM3764542(3),,,rs76732059,,"0.017,0.041,0.05,0.099(B,B,B,B)",1.22(L),-1.0663(T),,chr16,15178499,15178499,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser169Leu/c.506C>T|621|RRN3|protein_coding|CODING|NM_001301064.1|6|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser199Leu/c.596C>T|651|RRN3|protein_coding|CODING|NM_018427.4|7|1),splice_region_variant(LOW|||c.506C>T|621|RRN3|protein_coding|CODING|NM_001301064.1|6|1),splice_region_variant(LOW|||c.596C>T|651|RRN3|protein_coding|CODING|NM_018427.4|7|1),intron_variant(MODIFIER|||c.1400-54237G>A|498|PDXDC1|protein_coding|CODING|NM_001285449.1|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.004372(U),1.000(D),"1.14,1.14,1.14,0.96(T,T,T,T)",0.0761(T),0.615,1.465668,3.86,3.86,0.313000,1.700000,4.366000,0.614000,1.000000,1.000000,12.516
synonymous_variant,KIAA0430,SILENT,NM_001184998.1:p.Ile926Ile/c.2778C>T,atC/atT,LOW,,0.0353435,0.0387,rs62036917,,,,,,chr16,15711335,15711335,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile926Ile/c.2778C>T|1742|KIAA0430|protein_coding|CODING|NM_001184998.1|14|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile923Ile/c.2769C>T|1739|KIAA0430|protein_coding|CODING|NM_001184999.1|14|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile926Ile/c.2778C>T|1742|KIAA0430|protein_coding|CODING|NM_014647.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0297,0.049,0.0686,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,MYH11,MISSENSE,NM_001040114.1:p.Val1296Ala/c.3887T>C,gTt/gCt,MODERATE,,0.0201677,0,rs16967510,0.49(T),"0.3,0.103,0.232,0.103,0.156(B,B,B,B,B)",0.255(N),-0.9286(T),,chr16,15818842,15818842,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1296Ala/c.3887T>C|1945|MYH11|protein_coding|CODING|NM_001040113.1|30|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1296Ala/c.3887T>C|1979|MYH11|protein_coding|CODING|NM_001040114.1|30|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1289Ala/c.3866T>C|1972|MYH11|protein_coding|CODING|NM_002474.2|29|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1289Ala/c.3866T>C|1938|MYH11|protein_coding|CODING|NM_022844.2|29|1),3_prime_UTR_variant(MODIFIER||734|c.*734A>G|335|NDE1|protein_coding|CODING|NM_001143979.1|10|1),3_prime_UTR_variant(MODIFIER||734|c.*734A>G|335|NDE1|protein_coding|CODING|NM_017668.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.0375,0.0537,0.05,0.01,0.07,,0.017132(N),1.000(D),"-1.04,-1.04,-1.04,-1.04(T,T,T,T)",0.0341(T),0.18,2.468431,5.17,5.17,0.528000,1.952000,7.353000,0.547000,1.000000,1.000000,14.2182
missense_variant,MYH11,MISSENSE,NM_001040114.1:p.Ala1241Thr/c.3721G>A,Gca/Aca,MODERATE,COSM3999722(2),0.203874,0.2728,rs16967494,0.01(D),"0.025,0.015,0.015,0.015,0.025(B,B,B,B,B)",0.28(N),-1.0876(T),,chr16,15820863,15820863,C,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1241Thr/c.3721G>A|1945|MYH11|protein_coding|CODING|NM_001040113.1|29|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1241Thr/c.3721G>A|1979|MYH11|protein_coding|CODING|NM_001040114.1|29|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1234Thr/c.3700G>A|1972|MYH11|protein_coding|CODING|NM_002474.2|28|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1234Thr/c.3700G>A|1938|MYH11|protein_coding|CODING|NM_022844.2|28|1),downstream_gene_variant(MODIFIER||655||335|NDE1|protein_coding|CODING|NM_001143979.1||1),downstream_gene_variant(MODIFIER||655||335|NDE1|protein_coding|CODING|NM_017668.2||1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2219,0.2349,0.2883,0.21,0.10,0.26,,0.000279(D),0.021(P),"-1.15,-1.15,-1.15,-1.15(T,T,T,T)",0.0000(T),0.065,1.365018,4.68,4.68,0.655000,2.311000,0.783000,0.595000,0.998000,0.184000,12.1208
synonymous_variant,MYH11,SILENT,NM_001040114.1:p.Ala831Ala/c.2493C>T,gcC/gcT,LOW,,0.253594,0.3542,rs1050113,,,,,,chr16,15839034,15839034,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala831Ala/c.2493C>T|1945|MYH11|protein_coding|CODING|NM_001040113.1|21|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala831Ala/c.2493C>T|1979|MYH11|protein_coding|CODING|NM_001040114.1|21|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala824Ala/c.2472C>T|1972|MYH11|protein_coding|CODING|NM_002474.2|20|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala824Ala/c.2472C>T|1938|MYH11|protein_coding|CODING|NM_022844.2|20|1)","K562:CTCF,H1ESC:DNase1,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K27me3,H1ESC:CTCF",,,,0.2434,0.2695,0.339,0.26,0.15,0.32,,,,,,,,,,,,,,,,
synonymous_variant,MYH11,SILENT,NM_001040114.1:p.Ala588Ala/c.1764T>C,gcT/gcC,LOW,COSM4128737(1),0.548123,0.6647,rs2272554,,,,,,chr16,15850204,15850204,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala588Ala/c.1764T>C|1945|MYH11|protein_coding|CODING|NM_001040113.1|15|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala588Ala/c.1764T>C|1979|MYH11|protein_coding|CODING|NM_001040114.1|15|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala581Ala/c.1743T>C|1972|MYH11|protein_coding|CODING|NM_002474.2|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala581Ala/c.1743T>C|1938|MYH11|protein_coding|CODING|NM_022844.2|14|1)","K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,GM12878:EBF,HepG2:CTCF,HepG2:DNase1,GM06990:DNase1,GM12878:Tcf12,H1ESC:CTCF",,,,0.3967,0.3905,0.4245,0.50,0.68,0.41,,,,,,,,,,,,,,,,
synonymous_variant,ABCC1,SILENT,NM_004996.3:p.Val275Val/c.825T>C,gtT/gtC,LOW,,0.42472,0.4425,rs246221,,,,,,chr16,16138322,16138322,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val275Val/c.825T>C|1531|ABCC1|protein_coding|CODING|NM_004996.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1738,0.3617,0.3171,0.40,0.62,0.29,,,,,,,,,,,,,,,,
synonymous_variant,ABCC1,SILENT,NM_004996.3:p.Asn354Asn/c.1062T>C,aaT/aaC,LOW,,0.422923,0.4415,rs35587,,,,,,chr16,16139714,16139714,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn354Asn/c.1062T>C|1531|ABCC1|protein_coding|CODING|NM_004996.3|9|1),"NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1738,0.3573,0.3131,0.40,0.62,0.29,,,,,,,,,,,,,,,,
synonymous_variant,ABCC1,SILENT,NM_004996.3:p.Leu562Leu/c.1684T>C,Ttg/Ctg,LOW,,0.786542,0.8135,rs35605,,,,,,chr16,16162019,16162019,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu562Leu/c.1684T>C|1531|ABCC1|protein_coding|CODING|NM_004996.3|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.7824,0.829,0.85,0.89,0.83,,,,,,,,,,,,,,,,
missense_variant,ABCC1,MISSENSE,NM_004996.3:p.Ala1116Thr/c.3346G>A,Gcc/Acc,MODERATE,COSM4058627(2),0.000399361,0.001,rs200039403,0.61(T),"0.027,0.793,0.429,0.876,0.766,0.761(B,P,B,P,P,P)",1.31(L),0.0651(D),,chr16,16208889,16208889,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1116Thr/c.3346G>A|1531|ABCC1|protein_coding|CODING|NM_004996.3|23|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.000000(D),1.000(D),"-2.26,-2.26,-2.26,-2.26,-2.26,-2.26(D,D,D,D,D,D)",0.6340(D),0.666,1.529200,5.18,4.21,0.655000,1.165000,6.740000,0.029000,0.022000,1.000000,14.2162
synonymous_variant,ABCC1,SILENT,NM_004996.3:p.Ser1334Ser/c.4002G>A,tcG/tcA,LOW,COSM3754707(2),0.17512,0.121,rs2230671,,,,,,chr16,16228242,16228242,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1334Ser/c.4002G>A|1531|ABCC1|protein_coding|CODING|NM_004996.3|28|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1779,0.2867,0.2922,0.22,0.10,0.28,,,,,,,,,,,,,,,,
missense_variant,ABCC6,MISSENSE,NM_001171.5:p.Arg1268Gln/c.3803G>A,cGg/cAg,MODERATE,COSM3754708(2),0.18131,0.125,rs386562149,0.35(T),0.007(B),0.54(N),-1.1130(T),,chr16,16251599,16251599,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1268Gln/c.3803G>A|1503|ABCC6|protein_coding|CODING|NM_001171.5|27|1),"IMR90:H3K36me3,HepG2:H3K36me3",,RCV000006948.1,,0.1871,0.2983,0.3012,0.22,0.11,0.28,,0.018411(N),0.000(P),-2.69(D),0.0000(T),0.182,1.734060,5.09,2.01,0.530000,0.191000,-0.326000,0.951000,0.612000,0.000000,10.2379
missense_variant,ABCC6,MISSENSE,NM_001171.5:p.Met848Val/c.2542A>G,Atg/Gtg,MODERATE,,0.964257,1,rs6416668,0.17(T),0.0(B),0(N),-0.9450(T),,chr16,16271357,16271357,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met848Val/c.2542A>G|1503|ABCC6|protein_coding|CODING|NM_001171.5|19|1),"HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,1,0.987,1,0.96,0.90,1.00,,0.614547(N),1.000(P),-2.59(D),0.0000(T),0.065,-0.610191,5.27,1.01,-1.247000,0.211000,1.463000,0.030000,0.738000,0.679000,5.4374
synonymous_variant,ABCC6,SILENT,NM_001171.5:p.Gly800Gly/c.2400A>G,ggA/ggG,LOW,,0.964457,1,rs7500834,,,,,,chr16,16272670,16272670,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly800Gly/c.2400A>G|1503|ABCC6|protein_coding|CODING|NM_001171.5|18|1),"H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,1,0.987,1,0.96,0.90,1.00,,,,,,,,,,,,,,,,
missense_variant,ABCC6,MISSENSE,NM_001171.5:p.His632Gln/c.1896C>A,caC/caA,MODERATE,,0.332668,0.1627,rs8058694,0.33(T),"0.001,0.001(B,B)",-0.86(N),-1.0036(T),,chr16,16278863,16278863,G,T,het,missense_variant(MODERATE|MISSENSE|caC/caA|p.His632Gln/c.1896C>A|1503|ABCC6|protein_coding|CODING|NM_001171.5|15|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0.2587,0.4769,0.4861,0.45,0.36,0.50,,0.735553(N),1.000(P),"-2.6,-2.6(D,D)",0.0000(T),0.278,1.089665,5.13,-8.99,-0.182000,-1.176000,-1.090000,0.000000,0.000000,0.000000,4.3691
synonymous_variant,ABCC6,SILENT,NM_001171.5:p.Thr630Thr/c.1890C>G,acC/acG,LOW,,0.332668,0.1627,rs8058696,,,,,,chr16,16278869,16278869,G,C,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr630Thr/c.1890C>G|1503|ABCC6|protein_coding|CODING|NM_001171.5|15|1),"NHEK:H3K27me3,HepG2:H3K36me3",,,,0.2587,0.4769,0.4861,0.45,0.36,0.50,,,,,,,,,,,,,,,,
missense_variant,ABCC6,MISSENSE,NM_001171.5:p.Val614Ala/c.1841T>C,gTc/gCc,MODERATE,COSM3932234(1),0.339457,0.1518,rs12931472,0.46(T),"0.0,0.0(B,B)",-0.305(N),-0.9650(T),,chr16,16281007,16281007,A,G,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val614Ala/c.1841T>C|1503|ABCC6|protein_coding|CODING|NM_001171.5|14|1),HepG2:H3K36me3,,,,0.2658,0.4957,0.5,0.46,0.38,0.50,,0.421879(N),1.000(P),"-2.56,-2.61(D,D)",0.0000(T),0.303,0.166267,4.84,3.85,-0.215000,0.432000,1.037000,0.011000,0.002000,0.006000,3.5818
synonymous_variant,XYLT1,SILENT,NM_022166.3:p.His359His/c.1077C>T,caC/caT,LOW,,0.0105831,0,rs35488326,,,,,,chr16,17294348,17294348,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His359His/c.1077C>T|959|XYLT1|protein_coding|CODING|NM_022166.3|4|1),"GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0112,0.0202,0.0268,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,SMG1,SILENT,NM_015092.4:p.Gln3564Gln/c.10692A>G,caA/caG,LOW,,0.990815,1,rs2606556,,,,,,chr16,18823379,18823379,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln3564Gln/c.10692A>G|3661|SMG1|protein_coding|CODING|NM_015092.4|61|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9352,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SMG1,SILENT,NM_015092.4:p.Ala3244Ala/c.9732A>G,gcA/gcG,LOW,COSM3999744(3),0.242812,0.1081,rs12445870,,,,,,chr16,18839362,18839362,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala3244Ala/c.9732A>G|3661|SMG1|protein_coding|CODING|NM_015092.4|55|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.2997,0.3926,0.32,0.18,0.39,,,,,,,,,,,,,,,,
synonymous_variant,SMG1,SILENT,NM_015092.4:p.His1799His/c.5397T>C,caT/caC,LOW,COSM3754733(2),0.514976,0.2242,rs2650613,,,,,,chr16,18861335,18861335,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His1799His/c.5397T>C|3661|SMG1|protein_coding|CODING|NM_015092.4|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4806,0.5591,0.5258,0.62,0.73,0.56,,,,,,,,,,,,,,,,
missense_variant,TMC7,MISSENSE,NM_001300732.1:p.Gly254Glu/c.761G>A,gGg/gAg,MODERATE,COSM4128760(1),0.54373,0.7788,rs28583298,1(T),0.007(B),0.345(N),-0.9716(T),,chr16,19041595,19041595,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly144Glu/c.431G>A|613|TMC7|protein_coding|CODING|NM_001160364.2|6|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly254Glu/c.761G>A|758|TMC7|protein_coding|CODING|NM_001300732.1|6|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly254Glu/c.761G>A|723|TMC7|protein_coding|CODING|NM_024847.4|6|1)","HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6585,0.598,0.6491,0.50,0.25,0.63,,0.010468(N),0.430(P),"0.78,0.78(T,T)",0.0000(T),0.419,2.127155,5.52,4.51,0.655000,2.770000,1.028000,0.974000,0.997000,0.953000,13.4685
synonymous_variant,TMC7,SILENT,NM_001300732.1:p.Thr647Thr/c.1941G>A,acG/acA,LOW,COSM3754738(1),0.471246,0.754,rs17854511,,,,,,chr16,19067933,19067933,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr537Thr/c.1611G>A|613|TMC7|protein_coding|CODING|NM_001160364.2|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr647Thr/c.1941G>A|758|TMC7|protein_coding|CODING|NM_001300732.1|14|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr647Thr/c.1941G>A|723|TMC7|protein_coding|CODING|NM_024847.4|14|1)","HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5164,0.5,0.6193,0.46,0.18,0.60,,,,,,,,,,,,,,,,
missense_variant,COQ7,MISSENSE,NM_016138.4:p.Thr103Met/c.308C>T,aCg/aTg,MODERATE,COSM3754740(1),0.574681,0.8145,rs11074359,0.02(D),0.631(P),1.24(L),-1.0496(T),,chr16,19085298,19085298,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr65Met/c.194C>T|179|COQ7|protein_coding|CODING|NM_001190983.1|3|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr103Met/c.308C>T|217|COQ7|protein_coding|CODING|NM_016138.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6401,0.6196,0.6461,0.54,0.34,0.64,,0.011650(N),1.000(P),"0.94,0.94(T,T)",0.0000(T),0.305,3.605641,5.91,5.91,0.655000,2.793000,3.071000,0.913000,0.328000,0.228000,19.9089
synonymous_variant,CLEC19A,SILENT,NM_001256720.1:p.Ala62Ala/c.186T>C,gcT/gcC,LOW,COSM434753(2),0.467252,0.5099,rs1548450,,,,,,chr16,19310092,19310092,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala62Ala/c.186T>C|186|CLEC19A|protein_coding|CODING|NM_001256720.1|2|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3988,0.3415,0.2962,,,,,,,,,,,,,,,,,,,
missense_variant,TMC5,MISSENSE,NM_001105248.1:p.Ala355Thr/c.1063G>A,Gca/Aca,MODERATE,,0.0211661,0.003,rs36019638,0.49(T),"0.016,0.004,0.016,0.007,0.007,0.024(B,B,B,B,B,B)",1.67(L),-1.0962(T),,chr16,19471571,19471571,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala355Thr/c.1063G>A|1006|TMC5|protein_coding|CODING|NM_001105248.1|6|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala355Thr/c.1063G>A|948|TMC5|protein_coding|CODING|NM_001105249.1|6|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala355Thr/c.1063G>A|1006|TMC5|protein_coding|CODING|NM_001261841.1|6|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala109Thr/c.325G>A|760|TMC5|protein_coding|CODING|NM_024780.4|2|1)",HepG2:H3K27me3,,,,0.0092,0.0274,0.0716,0.05,0.01,0.06,,0.508741(N),0.999(N),"0.62,0.62,0.62,0.62,0.62(T,T,T,T,T)",0.0110(T),0.051,1.513279,5.28,3.34,0.655000,0.802000,0.092000,0.954000,0.154000,0.000000,10.2475
synonymous_variant,TMC5,SILENT,NM_001105248.1:p.Ser830Ser/c.2490A>G,tcA/tcG,LOW,,0.0215655,0,rs34170384,,,,,,chr16,19498565,19498565,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser830Ser/c.2490A>G|1006|TMC5|protein_coding|CODING|NM_001105248.1|17|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser830Ser/c.2490A>G|948|TMC5|protein_coding|CODING|NM_001105249.1|17|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser830Ser/c.2490A>G|1006|TMC5|protein_coding|CODING|NM_001261841.1|17|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser584Ser/c.1752A>G|760|TMC5|protein_coding|CODING|NM_024780.4|13|1)","HepG2:H3K27me3,K562:H3K4me2",,,,0.0051,0.0317,0.0775,0.05,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,CCP110,MISSENSE,NM_001199022.1:p.Ile252Met/c.756C>G,atC/atG,MODERATE,COSM148034(1),0.828075,0.7579,rs226891,0.14(T),"0.002,0.003(B,B)",0(N),-0.9819(T),,chr16,19547747,19547747,C,G,hom,"missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile252Met/c.756C>G|1012|CCP110|protein_coding|CODING|NM_001199022.1|4|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile252Met/c.756C>G|991|CCP110|protein_coding|CODING|NM_014711.4|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5869,0.8602,0.9324,0.93,0.95,0.92,,0.207608(N),1.000(P),"2.52,2.53,2.52(T,T,T)",0.0000(T),0.044,-0.406059,5.89,-7.75,-1.093000,-1.174000,-1.056000,0.002000,0.000000,0.000000,3.376
missense_variant,CCP110,MISSENSE,NM_001199022.1:p.Met375Ile/c.1125G>A,atG/atA,MODERATE,COSM3999752(1),0.155751,0.1587,rs7190666,0.01(D),"0.991,0.991(D,D)",1.845(L),-1.1233(T),,chr16,19548116,19548116,G,A,hom,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met375Ile/c.1125G>A|1012|CCP110|protein_coding|CODING|NM_001199022.1|4|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met375Ile/c.1125G>A|991|CCP110|protein_coding|CODING|NM_014711.4|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.1844,0.1581,0.16,0.16,0.16,,0.000000(N),0.003(P),"2.12,2.12,2.12(T,T,T)",0.0001(T),0.137,3.714216,6.07,4.02,0.655000,1.526000,4.303000,0.949000,1.000000,1.000000,15.5763
synonymous_variant,CCP110,SILENT,NM_001199022.1:p.Ala433Ala/c.1299G>A,gcG/gcA,LOW,COSM3999753(1),0.154952,0.1577,rs7191012,,,,,,chr16,19548290,19548290,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala433Ala/c.1299G>A|1012|CCP110|protein_coding|CODING|NM_001199022.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala433Ala/c.1299G>A|991|CCP110|protein_coding|CODING|NM_014711.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.1844,0.1581,0.16,0.16,0.16,,,,,,,,,,,,,,,,
synonymous_variant,C16orf62,SILENT,NM_020314.5:p.Asp851Asp/c.2553T>C,gaT/gaC,LOW,COSM3754749(1),0.32488,0.2887,rs957676,,,,,,chr16,19680546,19680546,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp758Asp/c.2274T>C|959|C16orf62|protein_coding|CODING|NM_001300743.1|24|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp851Asp/c.2553T>C|1052|C16orf62|protein_coding|CODING|NM_020314.5|27|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2924,0.3098,0.34,0.34,0.37,0.33,,,,,,,,,,,,,,,,
missense_variant,KNOP1,MISSENSE,NM_001012991.2:p.Arg28Gln/c.83G>A,cGa/cAa,MODERATE,COSM3754752(1),0.076877,0.003,rs11640454,,0.002(B),-1.1(N),-0.9696(T),,chr16,19726275,19726275,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg28Gln/c.83G>A|458|KNOP1|protein_coding|CODING|NM_001012991.2|2|1),upstream_gene_variant(MODIFIER||1503||287|IQCK|protein_coding|CODING|NM_153208.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.089,0.0937,0.1928,0.15,0.05,0.20,,0.424454(N),1.000(P),2.05(T),0.0000(T),0.031,-0.818824,4.6,0.767,-0.459000,0.040000,-0.166000,0.103000,0.118000,0.035000,6.5268
synonymous_variant,GPR139,SILENT,NM_001002911.2:p.Val263Val/c.789A>G,gtA/gtG,LOW,COSM4128767(1),0.517971,0.7827,rs2147865,,,,,,chr16,20043330,20043330,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val263Val/c.789A>G|353|GPR139|protein_coding|CODING|NM_001002911.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4029,0.4092,0.328,0.39,0.54,0.30,,,,,,,,,,,,,,,,
synonymous_variant,UMOD,SILENT,NM_001278614.1:p.Cys207Cys/c.621C>T,tgC/tgT,LOW,COSM3749349(14),0.54393,0.3056,rs7193058,,,,,,chr16,20360101,20360101,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys174Cys/c.522C>T|640|UMOD|protein_coding|CODING|NM_001008389.2|3|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys207Cys/c.621C>T|673|UMOD|protein_coding|CODING|NM_001278614.1|4|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys174Cys/c.522C>T|640|UMOD|protein_coding|CODING|NM_003361.3|3|1)","HepG2:DNase1,HepG2:Rad21,H1ESC:CTCF",,RCV000080093.1,,0.4417,0.5274,0.7167,0.75,0.72,0.77,,,,,,,,,,,,,,,,
missense_variant,PDILT,MISSENSE,NM_174924.1:p.Gly529Glu/c.1586G>A,gGg/gAg,MODERATE,,0.352835,0.1538,rs9652588,1(T),0.0(B),-0.895(N),-0.9697(T),,chr16,20370810,20370810,C,T,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly529Glu/c.1586G>A|584|PDILT|protein_coding|CODING|NM_174924.1|12|1),HepG2:H3K27me3,,,,0.3722,0.3473,0.4732,0.47,0.41,0.50,,0.211332(N),1.000(P),4.15(T),0.0000(T),0.028,-1.492764,3.86,2.75,-0.409000,0.297000,0.562000,0.016000,0.005000,0.005000,3.4626
missense_variant,PDILT,MISSENSE,NM_174924.1:p.Arg527Lys/c.1580G>A,aGg/aAg,MODERATE,,0.35643,0.1538,rs9652589,1(T),0.0(B),-0.805(N),-0.9586(T),,chr16,20370816,20370816,C,T,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg527Lys/c.1580G>A|584|PDILT|protein_coding|CODING|NM_174924.1|12|1),HepG2:H3K27me3,,,,0.3722,0.3473,0.4732,0.47,0.42,0.50,,0.518087(N),1.000(P),4.11(T),0.0000(T),0.024,-1.198838,3.72,2.63,-1.551000,0.269000,1.003000,0.000000,0.000000,0.002000,5.7063
synonymous_variant,PDILT,SILENT,NM_174924.1:p.Val408Val/c.1224A>G,gtA/gtG,LOW,,0.471446,0.1925,rs8054266,,,,,,chr16,20376755,20376755,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val408Val/c.1224A>G|584|PDILT|protein_coding|CODING|NM_174924.1|9|1),HepG2:H3K27me3,,,,0.4499,0.4467,0.5765,0.60,0.59,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ACSM2B,SILENT,NM_001105069.1:p.Ile510Ile/c.1530C>A,atC/atA,LOW,,0.70607,0.4187,rs16970280,,,,,,chr16,20552075,20552075,G,T,hom,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile510Ile/c.1530C>A|577|ACSM2B|protein_coding|CODING|NM_001105069.1|13|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile510Ile/c.1530C>A|577|ACSM2B|protein_coding|CODING|NM_182617.3|14|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.6697,0.8444,0.7972,0.81,0.79,0.83,,,,,,,,,,,,,,,,
synonymous_variant,ERI2,SILENT,NM_001142725.1:p.Lys168Lys/c.504G>A,aaG/aaA,LOW,COSM3999767(1),0.629792,0.4435,rs2301771,,,,,,chr16,20811681,20811681,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys168Lys/c.504G>A|691|ERI2|protein_coding|CODING|NM_001142725.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys168Lys/c.504G>A|328|ERI2|protein_coding|CODING|NM_080663.2|6|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7086,0.6326,0.7177,0.71,0.66,0.73,,,,,,,,,,,,,,,,
synonymous_variant,LOC81691,SILENT,NM_001199053.1:p.Glu560Glu/c.1680A>G,gaA/gaG,LOW,,0.824281,0.8671,rs9929443,,,,,,chr16,20855309,20855309,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu560Glu/c.1680A>G|774|LOC81691|protein_coding|CODING|NM_001199053.1|16|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu560Glu/c.1680A>G|774|LOC81691|protein_coding|CODING|NM_030941.2|16|1),intron_variant(MODIFIER|||c.1627-642A>G|743|LOC81691|protein_coding|CODING|NM_001144924.1|15|1)","CD4:H2AZ,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8701,0.8876,0.9085,0.83,0.70,0.90,,,,,,,,,,,,,,,,
missense_variant,DNAH3,MISSENSE,NM_017539.1:p.Met4058Val/c.12172A>G,Atg/Gtg,MODERATE,,,,rs143778940,0.14(T),0.003(B),-1.865(N),-0.9696(T),,chr16,20944655,20944655,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met4058Val/c.12172A>G|4116|DNAH3|protein_coding|CODING|NM_017539.1|62|1),HepG2:H3K27me3,,,,,,,0.00,0.00,0.00,,0.126550(N),1.000(N),3.14(T),0.0062(T),0.155,-0.034573,5.24,-2.19,0.460000,-0.850000,-0.010000,0.011000,0.000000,0.000000,2.9608
missense_variant,DNAH3,MISSENSE,NM_017539.1:p.Leu3639Ile/c.10915C>A,Ctc/Atc,MODERATE,,0.0315495,0.0169,rs34771199,0.12(T),0.552(P),1.575(L),-1.1395(T),,chr16,20966291,20966291,G,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Atc|p.Leu3639Ile/c.10915C>A|4116|DNAH3|protein_coding|CODING|NM_017539.1|55|1),,,,,0.0082,0.0259,0.0298,0.03,0.05,0.03,,0.001151(N),1.000(D),2.86(T),0.0038(T),0.115,3.913612,5.43,4.45,0.655000,2.543000,2.655000,0.998000,0.996000,1.000000,16.6368
missense_variant,DNAH3,MISSENSE,NM_017539.1:p.His3234Arg/c.9701A>G,cAt/cGt,MODERATE,,0.0319489,0.0169,rs61735055,0.21(T),0.034(B),-1.935(N),-0.9876(T),,chr16,20975505,20975505,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His3234Arg/c.9701A>G|4116|DNAH3|protein_coding|CODING|NM_017539.1|53|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0082,0.0259,0.0308,0.03,0.05,0.03,,0.000008(D),1.000(D),1.63(T),0.0022(T),0.067,1.545898,5.82,5.82,0.482000,2.223000,8.040000,0.514000,0.998000,1.000000,16.1742
missense_variant,DNAH3,MISSENSE,NM_017539.1:p.Met3112Ile/c.9336G>A,atG/atA,MODERATE,,0.00559105,0,rs34622944,0.15(T),0.001(B),0.45(N),-1.0437(T),,chr16,20975870,20975870,C,T,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met3112Ile/c.9336G>A|4116|DNAH3|protein_coding|CODING|NM_017539.1|53|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0,0.0144,0.003,0.00,0.01,0.00,,0.000184(D),1.000(D),2.09(T),0.0139(T),0.23,-0.679544,5.82,2.84,0.561000,0.395000,1.209000,0.052000,0.604000,1.000000,5.7294
missense_variant,DNAH3,MISSENSE,NM_017539.1:p.Ile2804Val/c.8410A>G,Atc/Gtc,MODERATE,,0.171925,0.1895,rs12929546,0.69(T),0.002(B),-0.1(N),-1.1055(T),,chr16,20981162,20981162,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile2804Val/c.8410A>G|4116|DNAH3|protein_coding|CODING|NM_017539.1|52|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.18,0.1052,0.1054,0.14,0.21,0.10,,0.000552(N),0.000(P),-0.67(T),0.0001(T),0.011,-1.339308,5.79,4.85,-0.772000,0.829000,2.152000,0.039000,0.997000,0.998000,11.8457
synonymous_variant,DNAH3,SILENT,NM_017539.1:p.Ala1143Ala/c.3429A>C,gcA/gcC,LOW,,0.444489,0.6766,rs861424,,,,,,chr16,21078693,21078693,T,G,het,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala1143Ala/c.3429A>C|4116|DNAH3|protein_coding|CODING|NM_017539.1|24|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.365,0.3732,0.4215,0.41,0.41,0.41,,,,,,,,,,,,,,,,
synonymous_variant,DNAH3,SILENT,NM_017539.1:p.Lys338Lys/c.1014G>A,aaG/aaA,LOW,COSM148041(2),0.2498,0.2946,rs11074483,,,,,,chr16,21145648,21145648,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys338Lys/c.1014G>A|4116|DNAH3|protein_coding|CODING|NM_017539.1|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.226,0.3646,0.2336,0.23,0.21,0.24,,,,,,,,,,,,,,,,
synonymous_variant,DNAH3,SILENT,NM_017539.1:p.Ser335Ser/c.1005C>T,agC/agT,LOW,COSM148044(3),0.0844649,0.1657,rs16970950,,,,,,chr16,21145657,21145657,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser335Ser/c.1005C>T|4116|DNAH3|protein_coding|CODING|NM_017539.1|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0307,0.072,0.0467,0.06,0.09,0.04,,,,,,,,,,,,,,,,
synonymous_variant,DNAH3,SILENT,NM_017539.1:p.Val191Val/c.573A>G,gtA/gtG,LOW,COSM148045(3),0.0557109,0.1548,rs8061600,,,,,,chr16,21151980,21151980,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val191Val/c.573A>G|4116|DNAH3|protein_coding|CODING|NM_017539.1|5|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.0194,0.0591,0.0467,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,TMEM159,MISSENSE,NM_020422.4:p.Glu154Asp/c.462A>C,gaA/gaC,MODERATE,,0.898762,0.999,rs1063087,1(T),"0.0,0.0(B,B)",-0.92(N),-0.9977(T),,chr16,21190853,21190853,A,C,hom,missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu154Asp/c.462A>C|161|TMEM159|protein_coding|CODING|NM_020422.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8885,0.8429,0.7416,0.80,0.94,0.73,,0.884191(N),1.000(P),"1.9,1.9,1.86(T,T,T)",0.0000(T),0.019,-0.532616,4.81,-1.46,-0.770000,-0.220000,-0.123000,0.022000,0.000000,0.000000,6.0328
synonymous_variant,ZP2,SILENT,NM_003460.2:p.Asp173Asp/c.519C>T,gaC/gaT,LOW,,0.283147,0.4157,rs16971234,,,,,,chr16,21217061,21217061,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp173Asp/c.519C>T|736|ZP2|protein_coding|CODING|NM_001290104.1|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp173Asp/c.519C>T|745|ZP2|protein_coding|CODING|NM_003460.2|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2485,0.2378,0.1074,0.19,0.33,0.12,,,,,,,,,,,,,,,,
missense_variant,ZP2,MISSENSE,NM_003460.2:p.Gly36Val/c.107G>T,gGg/gTg,MODERATE,COSM3999773(1),0.448083,0.4444,rs2075520,1(T),"0.0,0.0,0.0(B,B,B)",-2.42(N),-0.9547(T),,chr16,21222672,21222672,C,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly36Val/c.107G>T|736|ZP2|protein_coding|CODING|NM_001290104.1|3|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly36Val/c.107G>T|745|ZP2|protein_coding|CODING|NM_003460.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3446,0.4524,0.2555,0.39,0.61,0.28,,0.278368(N),1.000(P),2.01(T),0.0000(T),0.196,-2.221557,4.73,2.42,-0.256000,0.059000,0.668000,0.204000,0.414000,0.012000,5.3241
missense_variant,ANKS4B,MISSENSE,NM_145865.2:p.Arg228Gly/c.682A>G,Agg/Ggg,MODERATE,,0.00259585,0,rs148626912,0.53(T),0.001(B),1.59(L),-1.0482(T),,chr16,21261569,21261569,A,G,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg228Gly/c.682A>G|417|ANKS4B|protein_coding|CODING|NM_145865.2|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0,0.0029,0.002,0.00,0.00,0.00,,0.000739(D),1.000(D),0.89(T),0.0550(T),0.341,0.662714,5.77,4.62,0.482000,2.200000,2.005000,0.122000,0.987000,0.882000,4.5409
synonymous_variant,CRYM,SILENT,NM_001888.3:p.Thr288Thr/c.864C>G,acC/acG,LOW,,0.502596,0.2966,rs14122,,,,,,chr16,21272591,21272591,G,C,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr246Thr/c.738C>G|272|CRYM|protein_coding|CODING|NM_001014444.2|8|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr288Thr/c.864C>G|314|CRYM|protein_coding|CODING|NM_001888.3|9|1)","HepG2:RXRA,HepG2:H3K4me2,HeLa-S3:DNase1,HeLa-S3:Jund,HepG2:p300,K562:H3K27ac,K562:Nfe2,HepG2:H3K27ac,IMR90:DNase1,HepG2:PolII,HepG2:SP1,K562:Cfos,HepG2:HNF4G,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Junb,K562:Cjun,K562:FOSL1,HepG2:HNF4A,HepG2:FOSL2,HepG2:H3K9ac,HepG2:DNase1,HMEC:DNase1,HepG2:FAIRE,GM12878:DNase1,HepG2:Jund,K562:H3K4me2,NHEK:DNase1,HepG2:Cmyc,K562:DNase1,K562:Jund",,RCV000037221.1,,0.4417,0.4179,0.4016,0.53,0.76,0.42,,,,,,,,,,,,,,,,
missense_variant,VWA3A,MISSENSE,NM_173615.4:p.Phe1005Leu/c.3013T>C,Ttt/Ctt,MODERATE,,0.964257,0.8829,rs1991020,0.56(T),"0.0,0.0(B,B)",-1.135(N),-1.0389(T),,chr16,22161136,22161136,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe1005Leu/c.3013T>C|1184|VWA3A|protein_coding|CODING|NM_173615.4|29|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9898,0.9308,0.999,1.00,1.00,1.00,,0.364778(N),1.000(P),"3.2,3.2(T,T)",0.0000(T),0.03,-1.078937,5.57,2.21,-0.119000,0.254000,0.657000,0.260000,0.338000,0.180000,3.5203
synonymous_variant,EEF2K,SILENT,NM_013302.3:p.Leu130Leu/c.390G>C,ctG/ctC,LOW,,,,,,,,,,chr16,22260118,22260118,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu130Leu/c.390G>C|725|EEF2K|protein_coding|CODING|NM_013302.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,EEF2K,MISSENSE,NM_013302.3:p.Gln361Arg/c.1082A>G,cAa/cGa,MODERATE,,0.999601,1,rs4783453,1(T),0.0(B),-1.04(N),-0.9445(T),,chr16,22269867,22269867,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln361Arg/c.1082A>G|725|EEF2K|protein_coding|CODING|NM_013302.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000003(N),1.000(P),1.58(T),0.0000(T),0.234,0.219062,5.8,3.78,-0.213000,0.339000,4.685000,0.764000,0.372000,0.998000,9.9261
synonymous_variant,HS3ST2,SILENT,NM_006043.1:p.Val136Val/c.408A>G,gtA/gtG,LOW,COSM3765873(4),0.409944,0.3571,rs208951,,,,,,chr16,22826339,22826339,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val136Val/c.408A>G|367|HS3ST2|protein_coding|CODING|NM_006043.1|1|1),"NHEK:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.2863,0.4741,0.3688,0.42,0.51,0.37,,,,,,,,,,,,,,,,
missense_variant,USP31,MISSENSE,NM_020718.3:p.Arg1309Cys/c.3925C>T,Cgc/Tgc,MODERATE,COSM3754798(1),0.0319489,0.001,rs35254998,0(D),"0.543,0.736(P,P)",1.79(L),-1.1451(T),,chr16,23079501,23079501,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1309Cys/c.3925C>T|1352|USP31|protein_coding|CODING|NM_020718.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0706,0.013,0.0765,0.05,0.01,0.07,,0.929120(N),0.999(D),3.06(T),0.0040(T),0.454,3.005726,5.8,5.8,0.655000,2.735000,3.035000,0.992000,0.935000,1.000000,19.0512
synonymous_variant,SCNN1B,SILENT,NM_000336.2:p.Pro93Pro/c.279T>C,ccT/ccC,LOW,,0.788538,0.9831,rs238547,,,,,,chr16,23360199,23360199,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro93Pro/c.279T>C|640|SCNN1B|protein_coding|CODING|NM_000336.2|2|1),"K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,K562:H3K27me3,HepG2:CTCF,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.8333,0.4582,0.5408,0.66,0.89,0.55,,,,,,,,,,,,,,,,
missense_variant,GGA2,MISSENSE,NM_015044.4:p.Ala424Pro/c.1270G>C,Gca/Cca,MODERATE,,0.676318,0.6994,rs1135045,0.48(T),0.0(B),-1.87(N),-1.0041(T),,chr16,23489711,23489711,C,G,het,missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala424Pro/c.1270G>C|613|GGA2|protein_coding|CODING|NM_015044.4|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6892,0.7233,0.8111,0.73,0.58,0.81,,0.520402(N),0.869(P),2.51(T),0.0000(T),0.052,-0.726950,4.15,2.1,-0.120000,0.139000,0.670000,0.013000,0.449000,0.926000,6.2465
missense_variant,EARS2,MISSENSE,NM_001083614.1:p.Ser457Gly/c.1369A>G,Agt/Ggt,MODERATE,,0.801917,0.7163,rs6497671,0.41(T),0.0(B),-1.3(N),-1.0292(T),,chr16,23536684,23536684,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser457Gly/c.1369A>G|523|EARS2|protein_coding|CODING|NM_001083614.1|8|1),non_coding_exon_variant(MODIFIER|||n.1401A>G||EARS2||CODING|NR_003501.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7832,0.866,0.8499,0.85,0.83,0.86,,0.231473(N),1.000(P),0.97(T),0.0000(T),0.03,-1.009262,4.94,0.794,-0.374000,-0.062000,-0.616000,0.157000,0.000000,0.000000,8.8693
synonymous_variant,EARS2,SILENT,NM_001083614.1:p.Pro328Pro/c.984G>A,ccG/ccA,LOW,COSM3754802(1),0.013778,0,rs77939239,,,,,,chr16,23544061,23544061,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro328Pro/c.984G>A|523|EARS2|protein_coding|CODING|NM_001083614.1|5|1),non_coding_exon_variant(MODIFIER|||n.1016G>A||EARS2||CODING|NR_003501.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0159,0.0268,0.03,0.03,0.03,,,,,,,,,,,,,,,,
synonymous_variant,EARS2,SILENT,NM_001083614.1:p.Val202Val/c.606C>G,gtC/gtG,LOW,COSM4128826(1),0.802716,0.7163,rs2073951,,,,,,chr16,23546561,23546561,G,C,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val202Val/c.606C>G|523|EARS2|protein_coding|CODING|NM_001083614.1|4|1),non_coding_exon_variant(MODIFIER|||n.638C>G||EARS2||CODING|NR_003501.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7873,0.866,0.8499,0.85,0.84,0.86,,,,,,,,,,,,,,,,
synonymous_variant,EARS2,SILENT,NM_001083614.1:p.Ala88Ala/c.264G>A,gcG/gcA,LOW,,0.67472,0.6974,rs7187920,,,,,,chr16,23563501,23563501,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala88Ala/c.264G>A|523|EARS2|protein_coding|CODING|NM_001083614.1|2|1),non_coding_exon_variant(MODIFIER|||n.296G>A||EARS2||CODING|NR_003501.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6922,0.7233,0.8131,0.73,0.58,0.81,,,,,,,,,,,,,,,,
synonymous_variant,NDUFAB1,SILENT,NM_005003.2:p.Leu36Leu/c.108C>G,ctC/ctG,LOW,COSM434928(3),0.125599,0.1726,rs466719,,,,,,chr16,23607504,23607504,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu36Leu/c.108C>G|156|NDUFAB1|protein_coding|CODING|NM_005003.2|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HepG2:p300,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:HNF4A,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.0726,0.062,0.0736,0.10,0.17,0.07,,,,,,,,,,,,,,,,
missense_variant,PALB2,MISSENSE,NM_024675.3:p.Gln559Arg/c.1676A>G,cAa/cGa,MODERATE,,0.150759,0.1786,,1(T),0.0(B),-0.755(N),-0.9795(T),,chr16,23646191,23646191,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln559Arg/c.1676A>G|1186|PALB2|protein_coding|CODING|NM_024675.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000114486.1|RCV000121747.1|RCV000128962.1,,0.1022,0.0908,0.0934,0.13,0.22,0.09,,0.017104(N),1.000(P),2.49(T),0.0000(T),0.01,-1.346517,4.55,-2.73,-1.082000,-0.613000,0.401000,0.003000,0.001000,0.011000,5.6066
synonymous_variant,DCTN5,SILENT,NM_032486.3:p.Pro136Pro/c.408A>G,ccA/ccG,LOW,,0.233626,0.4355,rs35586,,,,,,chr16,23677006,23677006,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro136Pro/c.408A>G|152|DCTN5|protein_coding|CODING|NM_001199743.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro136Pro/c.408A>G|182|DCTN5|protein_coding|CODING|NM_032486.3|5|1),non_coding_exon_variant(MODIFIER|||n.686A>G||DCTN5||CODING|NR_037573.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2669,0.1758,0.2117,0.17,0.12,0.20,,,,,,,,,,,,,,,,
missense_variant,ERN2,MISSENSE,NM_033266.3:p.Ser535Thr/c.1604G>C,aGc/aCc,MODERATE,COSM3754803(1),0.434704,0.4792,rs26764,0.68(T),"0.0,0.0(B,B)",-0.345(N),-0.9222(T),,chr16,23711925,23711925,C,G,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser535Thr/c.1604G>C|974|ERN2|protein_coding|CODING|NM_033266.3|13|1),"HUVEC:H3K27me3,H1ESC:DNase1,HepG2:H3K36me3,HepG2:DNase1",,,,0.3108,0.3228,0.2734,0.37,0.59,0.26,,0.877043(N),1.000(P),"0.2,0.26(T,T)",0.0000(T),0.033,-0.768622,4.1,2.02,-0.216000,0.255000,0.105000,0.001000,0.005000,0.025000,6.4926
synonymous_variant,TNRC6A,SILENT,NM_014494.2:p.Ser672Ser/c.2016C>T,agC/agT,LOW,,0.166334,0.002,rs13336754,,,,,,chr16,24801979,24801979,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser672Ser/c.2016C>T|1962|TNRC6A|protein_coding|CODING|NM_014494.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1002,0.1427,0.2763,0.28,0.30,0.27,,,,,,,,,,,,,,,,
synonymous_variant,TNRC6A,SILENT,NM_014494.2:p.Leu790Leu/c.2368C>T,Ctg/Ttg,LOW,,0.0185703,0,rs72770409,,,,,,chr16,24802331,24802331,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu790Leu/c.2368C>T|1962|TNRC6A|protein_coding|CODING|NM_014494.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0288,0.0547,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TNRC6A,SILENT,NM_014494.2:p.His1804His/c.5412C>T,caC/caT,LOW,COSM148053(4),0.220847,0.4038,rs2303085,,,,-0.9305(T),,chr16,24834233,24834233,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1804His/c.5412C>T|1962|TNRC6A|protein_coding|CODING|NM_014494.2|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.137,0.2637,0.166,0.14,0.16,0.14,,,0.000(P),,0.0000(T),.,1.073739,5.27,1.87,-0.310000,0.338000,0.189000,0.993000,1.000000,0.979000,7.3864
missense_variant,SLC5A11,MISSENSE,NM_052944.4:p.Val182Ala/c.545T>C,gTt/gCt,MODERATE,,0.178914,0.0446,rs11074656,0.12(T),"0.026,0.009,0.016,0.376(B,B,B,B)",0.795(N),-1.1125(T),,chr16,24888646,24888646,T,C,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val147Ala/c.440T>C|640|SLC5A11|protein_coding|CODING|NM_001258411.2|7|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val112Ala/c.335T>C|605|SLC5A11|protein_coding|CODING|NM_001258412.2|6|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val118Ala/c.353T>C|611|SLC5A11|protein_coding|CODING|NM_001258413.2|7|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val118Ala/c.353T>C|519|SLC5A11|protein_coding|CODING|NM_001258414.1|7|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val182Ala/c.545T>C|675|SLC5A11|protein_coding|CODING|NM_052944.4|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.1779,0.2305,0.3787,0.30,0.15,0.38,,0.055041(N),1.000(P),"-2.4,-2.4,-2.4,-2.4,-2.4(D,D,D,D,D)",0.0000(T),0.234,1.239429,5.05,3.88,0.459000,2.021000,2.634000,0.563000,0.009000,0.147000,9.9717
synonymous_variant,SLC5A11,SILENT,NM_052944.4:p.Phe223Phe/c.669T>C,ttT/ttC,LOW,,0.9998,0.999,rs274081,,,,,,chr16,24902194,24902194,T,C,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe188Phe/c.564T>C|640|SLC5A11|protein_coding|CODING|NM_001258411.2|9|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe153Phe/c.459T>C|605|SLC5A11|protein_coding|CODING|NM_001258412.2|8|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe159Phe/c.477T>C|611|SLC5A11|protein_coding|CODING|NM_001258413.2|9|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe223Phe/c.669T>C|675|SLC5A11|protein_coding|CODING|NM_052944.4|9|1),intron_variant(MODIFIER|||c.472+6742T>C|519|SLC5A11|protein_coding|CODING|NM_001258414.1|8|1)","GM12878:H3K36me3,IMR90:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,SLC5A11,MISSENSE,NM_001258414.1:p.Arg227Cys/c.679C>T,Cgc/Tgc,MODERATE,COSM1162532(2),0.237021,0.0169,rs17772929,0(D),0.001(B),,-0.9786(T),,chr16,24918048,24918048,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg227Cys/c.679C>T|519|SLC5A11|protein_coding|CODING|NM_001258414.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile324Ile/c.972C>T|640|SLC5A11|protein_coding|CODING|NM_001258411.2|11|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile289Ile/c.867C>T|605|SLC5A11|protein_coding|CODING|NM_001258412.2|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile295Ile/c.885C>T|611|SLC5A11|protein_coding|CODING|NM_001258413.2|11|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile359Ile/c.1077C>T|675|SLC5A11|protein_coding|CODING|NM_052944.4|11|1)","HeLa-S3:CTCF,HMEC:CTCF",,,,0.1677,0.2565,0.4254,0.40,0.34,0.43,,,0.000(P),-1.79(D),0.0000(T),.,2.903209,5.73,-2.83,0.563000,-0.302000,-0.908000,0.958000,0.939000,0.031000,11.6091
missense_variant,AQP8,MISSENSE,NM_001169.2:p.Arg261Gln/c.782G>A,cGg/cAg,MODERATE,,0.0159744,0,rs111840156,0.16(T),0.001(B),0.895(L),-0.7514(T),,chr16,25239809,25239809,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg261Gln/c.782G>A|261|AQP8|protein_coding|CODING|NM_001169.2|6|1),,,,,0.0164,0.0245,0.0447,0.02,0.01,0.03,,0.448738(N),1.000(N),-2.72(D),0.1489(T),0.054,2.115640,4.71,-1.2,-0.345000,-0.151000,-0.175000,0.002000,0.000000,0.000000,7.8845
missense_variant,HS3ST4,MISSENSE,NM_006040.2:p.Gln136Arg/c.407A>G,cAg/cGg,MODERATE,,0.98103,1,rs2943336,0.54(T),,,-0.9590(T),,chr16,25704145,25704145,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln136Arg/c.407A>G|456|HS3ST4|protein_coding|CODING|NM_006040.2|1|1),"H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.998,0.9957,1,0.99,0.96,1.00,,0.931036(N),1.000(P),1.14(T),0.0000(T),0.026,-0.202008,2.87,2.87,-0.279000,0.405000,0.082000,0.752000,1.000000,0.991000,7.6536
synonymous_variant,KDM8,SILENT,NM_001145348.1:p.Leu378Leu/c.1134G>C,ctG/ctC,LOW,,0.0790735,0.0069,rs34577370,,,,,,chr16,27231740,27231740,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu378Leu/c.1134G>C|454|KDM8|protein_coding|CODING|NM_001145348.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu340Leu/c.1020G>C|416|KDM8|protein_coding|CODING|NM_024773.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1237,0.0893,0.1332,0.12,0.09,0.14,,,,,,,,,,,,,,,,
missense_variant,KIAA0556,MISSENSE,NM_015202.2:p.Ala1267Thr/c.3799G>A,Gcc/Acc,MODERATE,,0.9998,1,rs4787984,1(T),0.0(B),-3.175(N),-0.9864(T),,chr16,27772901,27772901,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1267Thr/c.3799G>A|1618|KIAA0556|protein_coding|CODING|NM_015202.2|19|1),"HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,1.00,1.00,,0.000000(N),0.997(P),2.79(T),0.0000(T),0.074,0.691394,4.56,4.56,-0.361000,0.616000,7.372000,0.880000,1.000000,1.000000,9.8305
synonymous_variant,GSG1L,SILENT,NM_001109763.1:p.Ala129Ala/c.387A>G,gcA/gcG,LOW,COSM3754825(1),0.580671,0.754,rs2051743,,,,,,chr16,27974487,27974487,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala129Ala/c.387A>G|331|GSG1L|protein_coding|CODING|NM_001109763.1|2|1),"K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5675,0.6787,0.5577,0.54,0.46,0.58,,,,,,,,,,,,,,,,
synonymous_variant,XPO6,SILENT,NM_015171.3:p.His751His/c.2253C>T,caC/caT,LOW,COSM3741875(1),0.166334,0.1032,rs205384,,,,,,chr16,28123226,28123226,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His737His/c.2211C>T|1111|XPO6|protein_coding|CODING|NM_001270940.1|18|1),synonymous_variant(LOW|SILENT|caC/caT|p.His751His/c.2253C>T|1125|XPO6|protein_coding|CODING|NM_015171.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.2363,0.2773,0.24,0.15,0.29,,,,,,,,,,,,,,,,
missense_variant,APOBR,MISSENSE,NM_018690.3:p.Val785Ala/c.2354T>C,gTg/gCg,MODERATE,,0.987021,1,rs40832,0.81(T),,,-1.0051(T),,chr16,28508716,28508716,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val785Ala/c.2354T>C|1097|APOBR|protein_coding|CODING|NM_018690.3|2|1),downstream_gene_variant(MODIFIER||1967||243|IL27|protein_coding|CODING|NM_145659.3||1)","CD4:H4K91ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,1,0.98,0.95,1.00,,,1.000(P),"0.43,0.43(T,T)",0.0000(T),0.013,-1.015119,4.39,-6.06,-2.189000,-1.532000,-1.060000,0.003000,0.000000,0.000000,3.4955
missense_variant,APOBR,MISSENSE,NM_018690.3:p.Glu844Lys/c.2530G>A,Gag/Aag,MODERATE,,0.0141773,0,rs34395441,0.67(T),"0.009,0.005(B,B)",0.695(N),-1.0700(T),,chr16,28508892,28508892,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu844Lys/c.2530G>A|1097|APOBR|protein_coding|CODING|NM_018690.3|2|1),downstream_gene_variant(MODIFIER||1791||243|IL27|protein_coding|CODING|NM_145659.3||1)","CD4:H4K91ac,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0031,0.013,0.0557,0.04,0.01,0.05,,,1.000(N),"0.09,0.09(T,T)",0.0176(T),0.056,0.355236,4.32,-0.811,0.457000,0.044000,-0.419000,0.027000,0.000000,0.000000,6.546
missense_variant,SULT1A2,MISSENSE,NM_001054.3:p.Lys282Glu/c.844A>G,Aag/Gag,MODERATE,,0.986422,1,rs27742,0.43(T),0.0(B),0.335(N),-1.0214(T),,chr16,28603393,28603393,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys282Glu/c.844A>G|295|SULT1A2|protein_coding|CODING|NM_001054.3|8|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys282Glu/c.844A>G|295|SULT1A2|protein_coding|CODING|NM_177528.2|8|1),downstream_gene_variant(MODIFIER||282||293|CCDC101|protein_coding|CODING|NM_138414.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.94,1.00,,0.984443(N),1.000(P),"-1.41,-1.41,-1.41(T,T,T)",0.0000(T),0.11,-0.271479,4.58,-4.61,-2.127000,-1.084000,-0.006000,0.020000,0.003000,0.001000,7.3916
missense_variant,SULT1A1,MISSENSE,NM_001055.3:p.Val223Met/c.667G>A,Gtg/Atg,MODERATE,,,,rs1801030,0.09(T),"0.011,0.084(B,B)",1.01(L),-1.0336(T),,chr16,28617485,28617485,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val223Met/c.667G>A|295|SULT1A1|protein_coding|CODING|NM_001055.3|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val223Met/c.667G>A|295|SULT1A1|protein_coding|CODING|NM_177529.2|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val223Met/c.667G>A|295|SULT1A1|protein_coding|CODING|NM_177530.2|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val223Met/c.667G>A|295|SULT1A1|protein_coding|CODING|NM_177534.2|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val145Met/c.433G>A|217|SULT1A1|protein_coding|CODING|NM_177536.3|5|1)","HMEC:H3K36me3,IMR90:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.87,0.63,1.00,,0.000057(N),1.000(P),"4.53,4.53,4.53,4.53(T,T,T,T)",0.0000(T),0.407,-0.204037,2.18,2.18,-0.848000,0.299000,2.112000,0.220000,0.017000,0.983000,5.7389
synonymous_variant,ATXN2L,SILENT,NM_148414.2:p.Gln413Gln/c.1239A>G,caA/caG,LOW,,0.997804,1,rs4344749,,,,,,chr16,28842311,28842311,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|1075|ATXN2L|protein_coding|CODING|NM_007245.3|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|1062|ATXN2L|protein_coding|CODING|NM_017492.3|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|1062|ATXN2L|protein_coding|CODING|NM_145714.2|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|1097|ATXN2L|protein_coding|CODING|NM_148414.2|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|1044|ATXN2L|protein_coding|CODING|NM_148415.2|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|1044|ATXN2L|protein_coding|CODING|NM_148416.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,CD19,MISSENSE,NM_001178098.1:p.Leu174Val/c.520C>G,Ctc/Gtc,MODERATE,,0.830272,0.9018,rs2904880,0.15(T),"0.0,0.0(B,B)",0(N),-1.0146(T),,chr16,28944396,28944396,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu174Val/c.520C>G|557|CD19|protein_coding|CODING|NM_001178098.1|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu174Val/c.520C>G|556|CD19|protein_coding|CODING|NM_001770.5|3|1)","GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K79me2,GM12878:ELF1,GM06990:H3K4me3,GM12878:PolII,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.8436,0.5504,0.7276,0.77,0.93,0.69,,0.663709(N),1.000(P),"1.35,1.35(T,T)",0.0000(T),0.025,1.427882,5.16,2.82,-0.371000,0.572000,0.092000,0.001000,0.045000,0.014000,5.7621
synonymous_variant,CD19,SILENT,NM_001178098.1:p.Pro235Pro/c.705G>T,ccG/ccT,LOW,COSM3754835(2),0.187101,0.1726,rs35979293,,,,,,chr16,28944700,28944700,G,T,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro235Pro/c.705G>T|557|CD19|protein_coding|CODING|NM_001178098.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro235Pro/c.705G>T|556|CD19|protein_coding|CODING|NM_001770.5|4|1)","GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K79me2,GM06990:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.1043,0.2406,0.3976,0.28,0.12,0.36,,,,,,,,,,,,,,,,
synonymous_variant,LAT,SILENT,NM_001014989.1:p.Ala156Ala/c.468G>A,gcG/gcA,LOW,COSM3754836(1),0.239217,0.3125,rs1131543,,,,,,chr16,28997997,28997997,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala149Ala/c.447G>A|262|LAT|protein_coding|CODING|NM_014387.3|6|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala120Ala/c.360G>A|233|LAT|protein_coding|CODING|NM_001014987.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala119Ala/c.357G>A|232|LAT|protein_coding|CODING|NM_001014988.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala156Ala/c.468G>A|269|LAT|protein_coding|CODING|NM_001014989.1|8|1)","CD4:H3K9me1,H1ESC:H3K36me3,CD4:H2BK5ac,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.3088,0.1772,0.3052,0.26,0.14,0.33,,,,,,,,,,,,,,,,
missense_variant,QPRT,MISSENSE,NM_014298.3:p.Thr195Ala/c.583A>G,Act/Gct,MODERATE,COSM4128940(1),0.999201,1,rs386625989,0.42(T),0.001(B),0.215(N),-1.0062(T),,chr16,29708350,29708350,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr195Ala/c.583A>G|297|QPRT|protein_coding|CODING|NM_014298.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.286410(N),1.000(P),1.58(T),0.0000(T),0.039,-0.048509,4.73,-9.46,-2.879000,-3.960000,-1.598000,0.020000,0.000000,0.000000,1.9745
missense_variant,ZG16,MISSENSE,NM_152338.3:p.Gly32Ser/c.94G>A,Ggt/Agt,MODERATE,,0.825879,0.9405,rs235636,0.17(T),,,-1.0018(T),,chr16,29790864,29790864,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly32Ser/c.94G>A|167|ZG16|protein_coding|CODING|NM_152338.3|3|1),"HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HSMM:DNase1,K562:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.9969,0.938,0.996,0.84,0.48,1.00,,0.013365(N),0.304(P),1.24(T),0.0000(T),0.081,-0.377251,5.51,4.56,0.557000,1.332000,2.274000,0.355000,0.987000,1.000000,6.9329
missense_variant,ZG16,MISSENSE,NM_152338.3:p.Leu109Val/c.325T>G,Tta/Gta,MODERATE,,0.999002,1,rs235637,0.49(T),,,-0.9428(T),,chr16,29791561,29791561,T,G,hom,missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu109Val/c.325T>G|167|ZG16|protein_coding|CODING|NM_152338.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.108752(N),1.000(P),1.59(T),0.0000(T),0.052,-1.210125,5.61,4.65,-0.215000,0.714000,1.151000,0.271000,1.000000,1.000000,4.9502
missense_variant,ZG16,MISSENSE,NM_152338.3:p.Ser162Thr/c.485G>C,aGt/aCt,MODERATE,COSM4128942(1),0.886981,0.9405,rs235638,0.59(T),,,-0.9414(T),,chr16,29791721,29791721,G,C,hom,missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser162Thr/c.485G>C|167|ZG16|protein_coding|CODING|NM_152338.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9969,0.9625,0.998,0.90,0.66,1.00,,0.479207(N),1.000(P),1.87(T),0.0000(T),0.072,1.799397,5.33,2.15,0.655000,0.810000,1.196000,0.859000,0.429000,0.897000,7.4081
synonymous_variant,KIF22,SILENT,NM_007317.2:p.Ile410Ile/c.1230C>T,atC/atT,LOW,,,,rs235648,,,,,,chr16,29811319,29811319,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile342Ile/c.1026C>T|597|KIF22|protein_coding|CODING|NM_001256269.1|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile342Ile/c.1026C>T|597|KIF22|protein_coding|CODING|NM_001256270.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile410Ile/c.1230C>T|665|KIF22|protein_coding|CODING|NM_007317.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.91,0.73,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KIF22,SILENT,NM_007317.2:p.Val475Val/c.1425G>A,gtG/gtA,LOW,,0.903155,0.9345,rs2450399,,,,,,chr16,29814234,29814234,G,A,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val407Val/c.1221G>A|597|KIF22|protein_coding|CODING|NM_001256269.1|10|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val407Val/c.1221G>A|597|KIF22|protein_coding|CODING|NM_001256270.1|9|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val475Val/c.1425G>A|665|KIF22|protein_coding|CODING|NM_007317.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9969,0.9697,1,0.91,0.73,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PRRT2,SILENT,NM_001256442.1:p.Leu251Leu/c.751T>C,Ttg/Ctg,LOW,,0.991813,1,rs11150573,,,,,,chr16,29825126,29825126,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu251Leu/c.751T>C|394|PRRT2|protein_coding|CODING|NM_001256442.1|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu251Leu/c.751T>C|340|PRRT2|protein_coding|CODING|NM_145239.2|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu251Leu/c.751T>C|299|PRRT2|protein_coding|CODING|NM_001256443.1|2|1)","K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,SEZ6L2,MISSENSE,NM_001243332.1:p.Arg74Pro/c.221G>C,cGg/cCg,MODERATE,COSM435083(5),0.750998,0.6052,rs11649499,,"0.0,0.0(B,B)",-0.345(N),-0.9972(T),,chr16,29908433,29908433,C,G,het,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg74Pro/c.221G>C|809|SEZ6L2|protein_coding|CODING|NM_001114100.2|3|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg74Pro/c.221G>C|923|SEZ6L2|protein_coding|CODING|NM_001243332.1|3|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg30Pro/c.89G>C|879|SEZ6L2|protein_coding|CODING|NM_001243333.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg74Pro/c.221G>C|910|SEZ6L2|protein_coding|CODING|NM_201575.3|3|1),intron_variant(MODIFIER|||c.212-201G>C|840|SEZ6L2|protein_coding|CODING|NM_001114099.2|2|1),intron_variant(MODIFIER|||c.212-201G>C|853|SEZ6L2|protein_coding|CODING|NM_012410.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.499,0.7464,0.827,0.88,0.95,0.84,,0.003211(N),0.000(P),"0.9,0.9,0.9(T,T,T)",0.0000(T),0.432,-1.806021,5.17,2.85,-0.998000,0.600000,0.504000,0.050000,1.000000,0.685000,7.5026
synonymous_variant,TBX6,SILENT,NM_004608.3:p.Pro409Pro/c.1227G>A,ccG/ccA,LOW,COSM330328(6),0.250799,0.4633,rs2289292,,,,,,chr16,30097630,30097630,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro409Pro/c.1227G>A|436|TBX6|protein_coding|CODING|NM_004608.3|9|1),downstream_gene_variant(MODIFIER||935||307|PPP4C|protein_coding|CODING|NM_002720.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.3112,0.339,0.25,0.08,0.34,,,,,,,,,,,,,,,,
synonymous_variant,CORO1A,SILENT,NM_001193333.2:p.Pro112Pro/c.336A>G,ccA/ccG,LOW,COSM3721331(2),0.794129,0.9256,rs1132812,,,,,,chr16,30198151,30198151,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro112Pro/c.336A>G|461|CORO1A|protein_coding|CODING|NM_001193333.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro112Pro/c.336A>G|461|CORO1A|protein_coding|CODING|NM_007074.3|4|1),upstream_gene_variant(MODIFIER||1854|||LOC606724||NON_CODING|NR_002454.2.2||1)","K562:PolII,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,GM12878:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:EBF,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.7147,0.7421,0.5706,0.67,0.89,0.55,,,,,,,,,,,,,,,,
synonymous_variant,SEPT1,SILENT,NM_052838.4:p.Ala57Ala/c.171C>T,gcC/gcT,LOW,,0.773163,0.9127,rs4787643,,,,,,chr16,30393660,30393660,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala57Ala/c.171C>T|414|SEPT1|protein_coding|CODING|NM_052838.4|3|1),intron_variant(MODIFIER|||c.-16+3929G>A|618|ZNF48|protein_coding|CODING|NM_001214906.1|1|1),intron_variant(MODIFIER|||c.-291+3929G>A|495|ZNF48|protein_coding|CODING|NM_001214907.1|1|1)","CD4:H3K18ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,CD4:H3K27ac,GM12878:Yy1,GM06990:H3K4me3,CD4:H3K36ac,GM12878:PolII,CD4:H3K4ac,CD4:PolII,CD4:H3K4me2,GM12878:H3K9ac,CD4:H2BK120ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,CD4:H2BK12ac",,,,0.7352,0.7767,0.673,0.70,0.75,0.67,,,,,,,,,,,,,,,,
missense_variant,ZNF48,MISSENSE,NM_001214906.1:p.Ala65Val/c.194C>T,gCc/gTc,MODERATE,,0.660942,0.9127,rs12921440,0.04(D),0.0(B),0.55(N),-1.0563(T),,chr16,30408765,30408765,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala65Val/c.194C>T|618|ZNF48|protein_coding|CODING|NM_001214906.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala65Val/c.194C>T|618|ZNF48|protein_coding|CODING|NM_001214909.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala65Val/c.194C>T|618|ZNF48|protein_coding|CODING|NM_152652.2|2|1),5_prime_UTR_variant(MODIFIER||176|c.-176C>T|495|ZNF48|protein_coding|CODING|NM_001214907.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7229,0.7219,0.6392,0.57,0.45,0.63,,0.924972(N),1.000(P),"3.52,3.4,3.26(T,T,T)",0.0000(T),0.414,1.440627,4.46,-3.03,0.563000,-0.282000,.,0.958000,0.020000,.,1.1199
missense_variant,ZNF48,MISSENSE,NM_001214906.1:p.Ile224Val/c.670A>G,Ata/Gta,MODERATE,,0.013778,0,rs34843513,0.09(T),0.004(B),-0.89(N),-0.9752(T),,chr16,30409241,30409241,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile224Val/c.670A>G|618|ZNF48|protein_coding|CODING|NM_001214906.1|3|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile101Val/c.301A>G|495|ZNF48|protein_coding|CODING|NM_001214907.1|2|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile224Val/c.670A>G|618|ZNF48|protein_coding|CODING|NM_001214909.1|3|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile224Val/c.670A>G|618|ZNF48|protein_coding|CODING|NM_152652.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0231,0.0278,0.03,0.01,0.04,,0.106879(N),1.000(N),2.28(T),0.0036(T),0.033,0.713871,4.85,-1.06,0.460000,-0.099000,-0.486000,0.988000,0.991000,0.000000,9.7449
synonymous_variant,ZNF48,SILENT,NM_001214906.1:p.Arg376Arg/c.1128C>T,cgC/cgT,LOW,,0.0980431,0,rs9936065,,,,,,chr16,30409699,30409699,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg376Arg/c.1128C>T|618|ZNF48|protein_coding|CODING|NM_001214906.1|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg253Arg/c.759C>T|495|ZNF48|protein_coding|CODING|NM_001214907.1|2|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg376Arg/c.1128C>T|618|ZNF48|protein_coding|CODING|NM_001214909.1|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg376Arg/c.1128C>T|618|ZNF48|protein_coding|CODING|NM_152652.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0102,0.049,0.0308,0.11,0.25,0.04,,,,,,,,,,,,,,,,
missense_variant,ITGAL,MISSENSE,NM_002209.2:p.Arg214Trp/c.640C>T,Cgg/Tgg,MODERATE,,0.0119808,0,rs1064524,0.03(D),"0.001,0.0(B,B)",0.55(N),-0.9027(T),,chr16,30492823,30492823,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg131Trp/c.391C>T|1086|ITGAL|protein_coding|CODING|NM_001114380.1|5|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg214Trp/c.640C>T|1170|ITGAL|protein_coding|CODING|NM_002209.2|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,CD4:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.0061,0.0159,0.0398,0.04,0.01,0.05,,0.004493(N),1.000(N),"-1.74,-1.74(D,D)",0.0654(T),0.339,2.251140,5.71,-8.15,-0.398000,-0.822000,-3.667000,0.011000,0.000000,0.000000,3.5645
synonymous_variant,SRCAP,SILENT,NM_006662.2:p.Arg688Arg/c.2064G>T,cgG/cgT,LOW,,0.972644,1,rs4889500,,,,,,chr16,30724070,30724070,G,T,hom,synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg688Arg/c.2064G>T|3230|SRCAP|protein_coding|CODING|NM_006662.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.96,0.89,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SRCAP,SILENT,NM_006662.2:p.Ser1406Ser/c.4218C>A,tcC/tcA,LOW,,0.98123,1,rs4889502,,,,,,chr16,30734963,30734963,C,A,hom,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser1406Ser/c.4218C>A|3230|SRCAP|protein_coding|CODING|NM_006662.2|25|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,0.999,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,RNF40,MISSENSE,NM_001286572.2:p.Gln615Arg/c.1844A>G,cAg/cGg,MODERATE,,1,1,rs7195142,0.83(T),"0.0,0.0,0.0(B,B,B)",-1.59(N),-0.9642(T),,chr16,30779716,30779716,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln615Arg/c.1844A>G|1000|RNF40|protein_coding|CODING|NM_001207033.1|13|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln515Arg/c.1544A>G|901|RNF40|protein_coding|CODING|NM_001207034.1|11|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln615Arg/c.1844A>G|1001|RNF40|protein_coding|CODING|NM_001286572.2|13|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln615Arg/c.1844A>G|1001|RNF40|protein_coding|CODING|NM_014771.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.021022(N),1.000(P),"1.66,1.65,1.65(T,T,T)",0.0000(T),0.296,-0.483637,5.97,5.0,-0.119000,0.853000,2.979000,0.557000,1.000000,1.000000,10.5107
synonymous_variant,RNF40,SILENT,NM_001286572.2:p.Leu831Leu/c.2493A>G,ctA/ctG,LOW,,0.98143,1,rs386596189,,,,,,chr16,30780828,30780828,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu831Leu/c.2493A>G|1000|RNF40|protein_coding|CODING|NM_001207033.1|17|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu731Leu/c.2193A>G|901|RNF40|protein_coding|CODING|NM_001207034.1|15|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu831Leu/c.2493A>G|1001|RNF40|protein_coding|CODING|NM_001286572.2|17|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu831Leu/c.2493A>G|1001|RNF40|protein_coding|CODING|NM_014771.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ORAI3,SILENT,NM_152288.2:p.Gln221Gln/c.663A>G,caA/caG,LOW,,0.988219,1,rs9926903,,,,,,chr16,30964940,30964940,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln221Gln/c.663A>G|295|ORAI3|protein_coding|CODING|NM_152288.2|2|1),"NHEK:CTCF,K562:PolII,K562:CTCF,HUVEC:CTCF,HepG2:PolII,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,GM06990:DNase1",,,,1,0.9986,0.999,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,HSD3B7,MISSENSE,NM_025193.3:p.Thr250Ala/c.748A>G,Acc/Gcc,MODERATE,COSM4129006(2),0.493411,0.9048,rs9938550,0.64(T),0.001(B),,-0.9715(T),,chr16,30999142,30999142,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr250Ala/c.748A>G|369|HSD3B7|protein_coding|CODING|NM_025193.3|7|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln195Gln/c.585A>G|196|HSD3B7|protein_coding|CODING|NM_001142777.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln195Gln/c.585A>G|196|HSD3B7|protein_coding|CODING|NM_001142778.1|6|1),downstream_gene_variant(MODIFIER||1435||288|STX1B|protein_coding|CODING|NM_052874.3||1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.5692,0.6362,0.52,0.29,0.64,,0.795663(N),1.000(P),-1.81(D),0.0000(T),0.008,-0.576438,5.1,0.275,-0.119000,0.134000,-0.060000,0.027000,0.000000,0.000000,1.6826
synonymous_variant,HSD3B7,SILENT,NM_025193.3:p.Arg356Arg/c.1068T>C,cgT/cgC,LOW,COSM3754851(6),0.492812,0.9058,rs2305880,,,,,,chr16,30999462,30999462,T,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg356Arg/c.1068T>C|369|HSD3B7|protein_coding|CODING|NM_025193.3|7|1),3_prime_UTR_variant(MODIFIER||314|c.*314T>C|196|HSD3B7|protein_coding|CODING|NM_001142777.1|6|1),3_prime_UTR_variant(MODIFIER||314|c.*314T>C|196|HSD3B7|protein_coding|CODING|NM_001142778.1|6|1),downstream_gene_variant(MODIFIER||1115||288|STX1B|protein_coding|CODING|NM_052874.3||1)","GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.5692,0.6362,0.52,0.29,0.64,,,,,,,,,,,,,,,,
missense_variant,ZNF668,MISSENSE,NM_001172669.1:p.Ala470Val/c.1409C>T,gCa/gTa,MODERATE,COSM3754855(2),0.0942492,0.003,rs8046978,0(D),,0(N),-0.9082(T),,chr16,31072909,31072909,G,A,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala470Val/c.1409C>T|642|ZNF668|protein_coding|CODING|NM_001172669.1|4|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala447Val/c.1340C>T|619|ZNF668|protein_coding|CODING|NM_001172670.1|3|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala447Val/c.1340C>T|619|ZNF668|protein_coding|CODING|NM_024706.4|3|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala447Val/c.1340C>T|619|ZNF668|protein_coding|CODING|NM_001172668.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.089,0.1383,0.2336,0.17,0.06,0.23,,0.864087(N),1.000(P),,0.0000(T),0.038,0.638493,4.63,-1.8,0.462000,-0.091000,-0.300000,0.410000,0.000000,0.002000,4.0535
synonymous_variant,ZNF668,SILENT,NM_001172669.1:p.Gly225Gly/c.675C>T,ggC/ggT,LOW,COSM3754858(1),0.345847,0.8859,rs2303223,,,,,,chr16,31075175,31075175,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly202Gly/c.606C>T|619|ZNF668|protein_coding|CODING|NM_001172668.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly225Gly/c.675C>T|642|ZNF668|protein_coding|CODING|NM_001172669.1|3|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly202Gly/c.606C>T|619|ZNF668|protein_coding|CODING|NM_001172670.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly202Gly/c.606C>T|619|ZNF668|protein_coding|CODING|NM_024706.4|2|1)","H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1452,0.4092,0.3877,0.30,0.09,0.40,,,,,,,,,,,,,,,,
missense_variant,ZNF668,MISSENSE,NM_001172669.1:p.Val48Leu/c.142G>C,Gtg/Ctg,MODERATE,,0.983826,1,rs2032917,0.11(T),0.0(B),-0.695(N),-1.0227(T),,chr16,31075708,31075708,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val25Leu/c.73G>C|619|ZNF668|protein_coding|CODING|NM_001172668.1|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val48Leu/c.142G>C|642|ZNF668|protein_coding|CODING|NM_001172669.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val25Leu/c.73G>C|619|ZNF668|protein_coding|CODING|NM_001172670.1|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val25Leu/c.73G>C|619|ZNF668|protein_coding|CODING|NM_024706.4|2|1)","CD4:H3K9me1,H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:H3K27ac,IMR90:H3K36me3,IMR90:H3K27ac,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H3K4me2,HSMM:H3K4me3,GM06990:H3K36me3",,,,1,0.9986,0.999,0.99,0.96,1.00,,0.007660(N),1.000(P),"2.48,2.48,2.48,2.48,2.48,1.04,3.2,1.66(T,T,T,T,T,T,T,T)",0.0000(T),0.26,-0.016021,4.73,2.79,-0.357000,0.244000,.,0.907000,1.000000,.,5.0492
synonymous_variant,ZNF646,SILENT,NM_014699.3:p.Glu234Glu/c.702G>A,gaG/gaA,LOW,,0.353435,0.8849,rs386610694,,,,,,chr16,31088347,31088347,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu234Glu/c.702G>A|1832|ZNF646|protein_coding|CODING|NM_014699.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1452,0.4035,0.3817,0.30,0.11,0.40,,,,,,,,,,,,,,,,
missense_variant,ZNF646,MISSENSE,NM_014699.3:p.Glu327Gly/c.980A>G,gAg/gGg,MODERATE,,0.345647,0.8849,rs749670,0.65(T),0.007(B),0.695(N),-0.9575(T),,chr16,31088625,31088625,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu327Gly/c.980A>G|1832|ZNF646|protein_coding|CODING|NM_014699.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1452,0.4092,0.3877,0.30,0.09,0.40,,,0.998(P),"2.92,2.96(T,T)",0.0000(T),0.139,0.079178,5.34,4.18,0.533000,2.022000,-0.083000,0.196000,0.990000,0.005000,6.2909
synonymous_variant,BCKDK,SILENT,NM_005881.3:p.Thr205Thr/c.615G>A,acG/acA,LOW,COSM1563134(1),0.359225,0.8849,rs14235,,,,,,chr16,31121793,31121793,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr205Thr/c.615G>A|365|BCKDK|protein_coding|CODING|NM_001122957.2|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr205Thr/c.615G>A|335|BCKDK|protein_coding|CODING|NM_001271926.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr205Thr/c.615G>A|412|BCKDK|protein_coding|CODING|NM_005881.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116491.2,,0.1421,0.3833,0.3817,0.30,0.13,0.39,,,,,,,,,,,,,,,,
synonymous_variant,KAT8,SILENT,NM_182958.2:p.Pro352Pro/c.1056A>G,ccA/ccG,LOW,COSM4129015(1),0.986022,0.999,rs1549295,,,,,,chr16,31141826,31141826,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro352Pro/c.1056A>G|458|KAT8|protein_coding|CODING|NM_032188.2|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro352Pro/c.1056A>G|467|KAT8|protein_coding|CODING|NM_182958.2|9|1),downstream_gene_variant(MODIFIER||928||343|PRSS8|protein_coding|CODING|NM_002773.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KAT8,SILENT,NM_182958.2:p.Leu370Leu/c.1110A>G,ctA/ctG,LOW,,0.96246,1,rs1549294,,,,,,chr16,31141880,31141880,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu370Leu/c.1110A>G|458|KAT8|protein_coding|CODING|NM_032188.2|9|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu370Leu/c.1110A>G|467|KAT8|protein_coding|CODING|NM_182958.2|9|1),downstream_gene_variant(MODIFIER||874||343|PRSS8|protein_coding|CODING|NM_002773.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3",,,,0.999,0.9942,1,0.96,0.89,1.00,,,,,,,,,,,,,,,,
missense_variant,KAT8,MISSENSE,NM_182958.2:p.Ile454Met/c.1362A>G,atA/atG,MODERATE,,0.116613,0.003,rs17855606,,0.04(B),,-0.9448(T),,chr16,31142271,31142271,A,G,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile454Met/c.1362A>G|467|KAT8|protein_coding|CODING|NM_182958.2|10|1),downstream_gene_variant(MODIFIER||483||343|PRSS8|protein_coding|CODING|NM_002773.3||1),intron_variant(MODIFIER|||c.1312+50A>G|458|KAT8|protein_coding|CODING|NM_032188.2|10|1)","H1ESC:H3K36me3,H1ESC:USF1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.1145,0.1715,0.3201,0.23,0.06,0.32,,,1.000(P),,0.0000(T),0.016,-0.221622,4.57,0.859,-0.383000,0.030000,-2.877000,0.003000,0.000000,0.000000,3.7748
missense_variant,PRSS36,MISSENSE,NM_173502.4:p.Val625Ile/c.1873G>A,Gtc/Atc,MODERATE,,0.00898562,0,rs117442264,0.24(T),"0.03,0.028,0.028(B,B,B)",1.585(L),-0.4188(T),,chr16,31152818,31152818,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val620Ile/c.1858G>A|850|PRSS36|protein_coding|CODING|NM_001258290.1|12|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val625Ile/c.1873G>A|752|PRSS36|protein_coding|CODING|NM_001258291.1|12|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val625Ile/c.1873G>A|855|PRSS36|protein_coding|CODING|NM_173502.4|12|1)","NHEK:H3K27ac,HepG2:H3K4me2,HepG2:H3K27ac,IMR90:H3K4me1,HepG2:H3K4me3,HMEC:H3K4me1,HepG2:H3K9ac,HepG2:H3K27me3,K562:H3K4me2",,,,0.001,0.0303,0.0199,0.01,0.00,0.02,,,0.654(N),"-0.48,-2.31(T,D)",0.2616(T),0.083,3.217405,5.29,4.34,0.455000,1.226000,3.299000,0.890000,1.000000,1.000000,8.0067
synonymous_variant,PRSS36,SILENT,NM_173502.4:p.Asp566Asp/c.1698T>C,gaT/gaC,LOW,,0.879393,0.999,rs1549300,,,,,,chr16,31153105,31153105,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp561Asp/c.1683T>C|850|PRSS36|protein_coding|CODING|NM_001258290.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp566Asp/c.1698T>C|752|PRSS36|protein_coding|CODING|NM_001258291.1|11|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp566Asp/c.1698T>C|855|PRSS36|protein_coding|CODING|NM_173502.4|11|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,IMR90:H3K9ac,CD4:DNase1,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,IMR90:H3K4me1,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HMEC:H3K4me1,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,K562:DNase1",,,,1,0.9669,0.999,0.87,0.62,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PRSS36,SILENT,NM_173502.4:p.Ser423Ser/c.1269C>T,agC/agT,LOW,COSM3749361(17),0.488618,0.8909,rs1549299,,,,,,chr16,31154146,31154146,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser423Ser/c.1269C>T|850|PRSS36|protein_coding|CODING|NM_001258290.1|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser423Ser/c.1269C>T|752|PRSS36|protein_coding|CODING|NM_001258291.1|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser423Ser/c.1269C>T|855|PRSS36|protein_coding|CODING|NM_173502.4|9|1)","HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HeLa-S3:Max,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:CTCF,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,HepG2:H3K4me3,HeLa-S3:Ini1,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:Yy1,GM12878:H3K4me2,GM06990:DNase1,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,0.2618,0.5519,0.6978,0.57,0.27,0.73,,,,,,,,,,,,,,,,
synonymous_variant,FUS,SILENT,NM_004960.3:p.Tyr97Tyr/c.291C>T,taC/taT,LOW,,0.473842,0.7431,rs1052352,,,,,,chr16,31195279,31195279,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr97Tyr/c.291C>T|522|FUS|protein_coding|CODING|NM_001170937.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr97Tyr/c.291C>T|526|FUS|protein_coding|CODING|NM_004960.3|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr96Tyr/c.288C>T|525|FUS|protein_coding|CODING|NM_001170634.1|4|1),non_coding_exon_variant(MODIFIER|||n.396C>T||FUS||CODING|NR_028388.2|4|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,K562:HEY1,GM06990:H3K36me3,NHEK:DNase1,HSMM:H3K79me2",,,,0.4131,0.5173,0.5517,0.46,0.27,0.55,,,,,,,,,,,,,,,,
synonymous_variant,TRIM72,SILENT,NM_001008274.3:p.Arg146Arg/c.438C>T,cgC/cgT,LOW,,0.569489,0.745,rs7186832,,,,,,chr16,31230463,31230463,C,T,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg146Arg/c.438C>T|477|TRIM72|protein_coding|CODING|NM_001008274.3|3|1),"GM06990:H3K27me3,H1ESC:H3K27me3,HSMM:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4233,0.5893,0.6839,0.62,0.47,0.70,,,,,,,,,,,,,,,,
synonymous_variant,ITGAM,SILENT,NM_001145808.1:p.Thr834Thr/c.2502G>A,acG/acA,LOW,COSM1128977(2),0.294529,0.6558,rs1143682,,,,,,chr16,31336719,31336719,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr833Thr/c.2499G>A|1152|ITGAM|protein_coding|CODING|NM_000632.3|20|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr834Thr/c.2502G>A|1153|ITGAM|protein_coding|CODING|NM_001145808.1|20|1)",HepG2:H3K27me3,,,,0.1217,0.3329,0.3519,0.29,0.14,0.37,,,,,,,,,,,,,,,,
missense_variant,ITGAX,MISSENSE,NM_001286375.1:p.Pro517Arg/c.1550C>G,cCc/cGc,MODERATE,COSM4129026(1),0.298722,0.6766,rs2230429,0(D),0.727(P),1.88(L),-1.0316(T),,chr16,31374535,31374535,C,G,hom,"missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro517Arg/c.1550C>G|1163|ITGAX|protein_coding|CODING|NM_000887.4|14|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro517Arg/c.1550C>G|1169|ITGAX|protein_coding|CODING|NM_001286375.1|14|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1207,0.3184,0.339,0.29,0.16,0.37,,,0.900(P),1.35(T),0.0000(T),0.389,2.681501,4.03,4.03,0.460000,1.952000,0.907000,0.965000,1.000000,0.951000,13.447
synonymous_variant,ITGAD,SILENT,NM_005353.2:p.Ser463Ser/c.1389T>C,tcT/tcC,LOW,,0.913938,0.8244,rs12444660,,,,,,chr16,31422429,31422429,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser463Ser/c.1389T>C|1161|ITGAD|protein_coding|CODING|NM_005353.2|13|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9581,0.9568,0.9394,0.94,0.93,0.94,,,,,,,,,,,,,,,,
synonymous_variant,ARMC5,SILENT,NM_001288767.1:p.Leu709Leu/c.2127C>G,ctC/ctG,LOW,COSM4129033(1),0.0329473,0.0069,rs55800131,,,,,,chr16,31476186,31476186,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu614Leu/c.1842C>G|935|ARMC5|protein_coding|CODING|NM_001105247.1|4|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu709Leu/c.2127C>G|1030|ARMC5|protein_coding|CODING|NM_001288767.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu614Leu/c.1842C>G|725|ARMC5|protein_coding|CODING|NM_024742.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0297,0.0504,0.0845,0.07,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,ARMC5,MISSENSE,NM_024742.2:p.Ala705Val/c.2114C>T,gCg/gTg,MODERATE,COSM1599969(2),0.304113,0.4494,rs11150624,,0.011(B),,-0.9284(T),,chr16,31476458,31476458,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala705Val/c.2114C>T|725|ARMC5|protein_coding|CODING|NM_024742.2|4|1),intron_variant(MODIFIER|||c.1864+250C>T|935|ARMC5|protein_coding|CODING|NM_001105247.1|4|1),intron_variant(MODIFIER|||c.2149+250C>T|1030|ARMC5|protein_coding|CODING|NM_001288767.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1595,0.5735,0.4463,0.32,0.11,0.43,,,1.000(P),2.0(T),0.0000(T),0.019,0.773579,3.63,-7.27,-1.359000,-1.705000,-1.168000,0.001000,0.000000,0.000000,4.3423
missense_variant,SLC5A2,MISSENSE,NM_003041.3:p.Val470Ala/c.1409T>C,gTc/gCc,MODERATE,,,,rs139661242,0.1(T),0.766(P),2.065(M),0.5770(D),,chr16,31500329,31500329,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val470Ala/c.1409T>C|672|SLC5A2|protein_coding|CODING|NM_003041.3|11|1),downstream_gene_variant(MODIFIER||467||468|C16orf58|protein_coding|CODING|NM_022744.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.000146(D),1.000(D),-2.73(D),0.7577(D),0.627,4.241778,4.89,4.89,0.459000,2.062000,7.824000,0.299000,0.816000,1.000000,12.5131
synonymous_variant,AHSP,SILENT,NM_016633.2:p.Leu77Leu/c.231G>T,ctG/ctT,LOW,COSM4129036(1),0.317492,0.2222,rs17677,,,,,,chr16,31539934,31539934,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu77Leu/c.231G>T|102|AHSP|protein_coding|CODING|NM_016633.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:H3K4me2",,,,0.5143,0.1311,0.1541,0.25,0.41,0.16,,,,,,,,,,,,,,,,
missense_variant,ZNF267,MISSENSE,NM_003414.5:p.Cys350Tyr/c.1049G>A,tGt/tAt,MODERATE,,0.855032,1,rs3850114,1(T),0.0(B),-2.515(N),-0.9880(T),,chr16,31926619,31926619,G,A,hom,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys318Tyr/c.953G>A|711|ZNF267|protein_coding|CODING|NM_001265588.1|5|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys350Tyr/c.1049G>A|743|ZNF267|protein_coding|CODING|NM_003414.5|4|1),non_coding_exon_variant(MODIFIER|||n.1302G>A||ZNF267||CODING|NR_049749.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.9816,0.9409,0.9672,0.84,0.61,0.97,,,0.999(P),2.83(T),0.0000(T),0.116,-0.642866,0.458,0.458,-0.524000,-0.490000,-0.878000,0.007000,0.008000,0.000000,1.4118
missense_variant,SHCBP1,MISSENSE,NM_024745.4:p.Met21Thr/c.62T>C,aTg/aCg,MODERATE,COSM3754898(2),0.983427,1,rs6598679,0.86(T),0.0(B),0(N),-1.0054(T),,chr16,46655210,46655210,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met21Thr/c.62T>C|672|SHCBP1|protein_coding|CODING|NM_024745.4|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:E2F6,HeLa-S3:E2F4,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,GM12878:Cfos,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,1,0.9957,1,0.98,0.95,1.00,,0.164021(N),1.000(P),2.06(T),0.0000(T),0.041,-1.265789,3.83,-0.124,-1.054000,-0.121000,-0.334000,0.001000,0.000000,0.000000,3.327
synonymous_variant,VPS35,SILENT,NM_018206.4:p.His646His/c.1938C>T,caC/caT,LOW,,0.974441,1,rs168745,,,,,,chr16,46696284,46696284,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His646His/c.1938C>T|796|VPS35|protein_coding|CODING|NM_018206.4|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,MYLK3,MISSENSE,NM_182493.2:p.Val180Leu/c.538G>T,Gtg/Ttg,MODERATE,COSM148070(3),0.466054,0.5536,rs28407821,0.26(T),0.001(B),1.245(L),-0.9296(T),,chr16,46773999,46773999,C,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val180Leu/c.538G>T|819|MYLK3|protein_coding|CODING|NM_182493.2|2|1),"K562:H3K4me1,HepG2:H3K27me3,K562:DNase1",,,,0.7086,0.464,0.5984,0.46,0.20,0.59,,0.431687(N),0.873(P),-0.66(T),0.0000(T),0.108,1.938748,5.58,2.57,-0.158000,0.400000,1.065000,0.007000,0.050000,0.026000,5.3239
missense_variant,PHKB,MISSENSE,NM_000293.2:p.Tyr770Cys/c.2309A>G,tAt/tGt,MODERATE,,0.0646965,0.0149,rs16945474,0.06(T),"0.518,0.425(P,B)",2.4(M),-0.9561(T),,chr16,47697618,47697618,A,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr770Cys/c.2309A>G|1093|PHKB|protein_coding|CODING|NM_000293.2|24|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr763Cys/c.2288A>G|1086|PHKB|protein_coding|CODING|NM_001031835.2|25|1)","HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0286,0.0375,0.0368,0.08,0.15,0.04,,0.000000(D),0.000(P),"-2.84,-2.84(D,D)",0.0123(T),0.908,3.992193,5.73,5.73,0.533000,2.180000,8.569000,0.988000,1.000000,1.000000,16.0152
missense_variant,ABCC12,MISSENSE,NM_033226.2:p.Arg1117Cys/c.3349C>T,Cgt/Tgt,MODERATE,COSM1378010(1),0.591254,0.8889,rs7193955,0.05(D),0.006(B),1.88(L),-0.9809(T),,chr16,48122582,48122582,G,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1117Cys/c.3349C>T|1359|ABCC12|protein_coding|CODING|NM_033226.2|24|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.773,0.5331,0.7873,0.60,0.23,0.78,,0.159431(N),1.000(P),-2.74(D),0.0000(T),0.145,0.739832,5.87,2.67,-0.150000,0.781000,0.035000,0.087000,0.535000,0.000000,3.9511
stop_gained,ABCC12,NONSENSE,NM_033226.2:p.Trp1024*/c.3071G>A,tGg/tAg,HIGH,,0.0181709,0.002,rs36102575,1(T),,,,ABCC12:1.00(1);ABCC12:1.00(1);,chr16,48130781,48130781,C,T,het,stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp1024*/c.3071G>A|1359|ABCC12|protein_coding|CODING|NM_033226.2|22|1),NHEK:H3K27me3,,,,0.0348,0.0231,0.0308,0.02,0.01,0.03,,0.000018(D),1.000(D),,,.,9.683658,5.79,5.79,0.655000,2.722000,6.709000,0.383000,1.000000,1.000000,18.8188
synonymous_variant,ABCC12,SILENT,NM_033226.2:p.Val386Val/c.1158A>G,gtA/gtG,LOW,COSM3754900(1),0.120807,0,rs12149826,,,,,,chr16,48164777,48164777,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val386Val/c.1158A>G|1359|ABCC12|protein_coding|CODING|NM_033226.2|8|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.1902,0.1931,0.2714,0.22,0.06,0.31,,,,,,,,,,,,,,,,
missense_variant,ABCC11,MISSENSE,NM_032583.3:p.His1344Arg/c.4031A>G,cAc/cGc,MODERATE,COSM3754902(1),0.170128,0.0446,rs16945916,1(T),"0.0,0.0(B,B)",-2.365(N),-0.9804(T),,chr16,48201432,48201432,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1344Arg/c.4031A>G|1382|ABCC11|protein_coding|CODING|NM_032583.3|29|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1344Arg/c.4031A>G|1382|ABCC11|protein_coding|CODING|NM_033151.3|28|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1306Arg/c.3917A>G|1344|ABCC11|protein_coding|CODING|NM_145186.2|28|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0327,0.1369,0.168,0.23,0.34,0.17,,0.000642(N),0.000(P),"-0.81,-0.81,-0.81,-0.81(T,T,T,T)",0.0000(T),0.028,-0.823357,5.14,2.03,-0.231000,-0.048000,1.892000,0.498000,0.178000,0.910000,5.22
missense_variant,ABCC11,MISSENSE,NM_032583.3:p.Asn1277Tyr/c.3829A>T,Aac/Tac,MODERATE,,0.0509185,0,rs61739606,0(D),1.0(D),2.775(M),-0.4149(T),,chr16,48204078,48204078,T,A,het,"missense_variant(MODERATE|MISSENSE|Aac/Tac|p.Asn1277Tyr/c.3829A>T|1382|ABCC11|protein_coding|CODING|NM_032583.3|28|1),missense_variant(MODERATE|MISSENSE|Aac/Tac|p.Asn1277Tyr/c.3829A>T|1382|ABCC11|protein_coding|CODING|NM_033151.3|27|1),intron_variant(MODIFIER|||c.3777+722A>T|1344|ABCC11|protein_coding|CODING|NM_145186.2|27|1)",,,,,0.0164,0.0634,0.0915,0.09,0.07,0.10,,0.000000(D),1.000(D),"-3.37,-3.37,-3.37(D,D,D)",0.2031(T),0.168,3.087564,5.24,5.24,0.529000,1.990000,4.516000,0.149000,0.888000,1.000000,11.5638
synonymous_variant,ABCC11,SILENT,NM_032583.3:p.Phe812Phe/c.2436C>T,ttC/ttT,LOW,COSM3754904(1),0.138778,0.0446,rs11866251,,,,,,chr16,48227862,48227862,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe812Phe/c.2436C>T|1382|ABCC11|protein_coding|CODING|NM_032583.3|19|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe812Phe/c.2436C>T|1382|ABCC11|protein_coding|CODING|NM_033151.3|18|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe812Phe/c.2436C>T|1344|ABCC11|protein_coding|CODING|NM_145186.2|19|1)",IMR90:H3K27me3,,,,0.0327,0.1311,0.164,0.19,0.23,0.17,,,,,,,,,,,,,,,,
missense_variant,ABCC11,MISSENSE,NM_032583.3:p.Thr546Met/c.1637C>T,aCg/aTg,MODERATE,,0.0245607,0,rs17822471,0(D),"0.917,0.791(D,P)",2.495(M),-0.2883(T),,chr16,48242379,48242379,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr546Met/c.1637C>T|1382|ABCC11|protein_coding|CODING|NM_032583.3|12|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr546Met/c.1637C>T|1382|ABCC11|protein_coding|CODING|NM_033151.3|11|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr546Met/c.1637C>T|1344|ABCC11|protein_coding|CODING|NM_145186.2|12|1)","GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0153,0.0519,0.0656,0.05,0.02,0.07,,0.000871(D),1.000(N),"-3.4,-3.4,-3.4,-3.4,-3.4(D,D,D,D,D)",0.3189(T),0.199,2.169582,5.06,2.27,0.650000,0.295000,1.431000,0.250000,0.036000,0.100000,5.3769
synonymous_variant,ABCC11,SILENT,NM_032583.3:p.Lys374Lys/c.1122A>G,aaA/aaG,LOW,COSM3754905(1),0.169928,0.0446,rs8047091,,,,,,chr16,48248918,48248918,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys374Lys/c.1122A>G|1382|ABCC11|protein_coding|CODING|NM_032583.3|9|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys374Lys/c.1122A>G|1382|ABCC11|protein_coding|CODING|NM_033151.3|8|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys374Lys/c.1122A>G|1344|ABCC11|protein_coding|CODING|NM_145186.2|9|1)","GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0593,0.1455,0.167,0.21,0.32,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ZNF423,SILENT,NM_015069.3:p.Cys891Cys/c.2673T>C,tgT/tgC,LOW,COSM3999869(1),0.204872,0.2073,rs3803667,,,,,,chr16,49670390,49670390,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys831Cys/c.2493T>C|1224|ZNF423|protein_coding|CODING|NM_001271620.1|4|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys891Cys/c.2673T>C|1284|ZNF423|protein_coding|CODING|NM_015069.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1677,0.281,0.1948,0.21,0.21,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ZNF423,SILENT,NM_015069.3:p.Arg181Arg/c.543T>C,cgT/cgC,LOW,COSM3754916(1),0.578674,0.4603,rs3803665,,,,,,chr16,49672520,49672520,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg121Arg/c.363T>C|1224|ZNF423|protein_coding|CODING|NM_001271620.1|4|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg181Arg/c.543T>C|1284|ZNF423|protein_coding|CODING|NM_015069.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4928,0.4597,0.4254,0.57,0.85,0.43,,,,,,,,,,,,,,,,
synonymous_variant,HEATR3,SILENT,NM_182922.2:p.Phe197Phe/c.591T>C,ttT/ttC,LOW,,0.599441,0.6429,rs2287197,,,,,,chr16,50106594,50106594,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe197Phe/c.591T>C|680|HEATR3|protein_coding|CODING|NM_182922.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7219,0.7176,0.7097,0.60,0.39,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ADCY7,SILENT,NM_001114.4:p.Ala204Ala/c.612A>G,gcA/gcG,LOW,,0.994409,1,rs8051594,,,,,,chr16,50326661,50326661,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala204Ala/c.612A>G|1080|ADCY7|protein_coding|CODING|NM_001114.4|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala204Ala/c.612A>G|734|ADCY7|protein_coding|CODING|NM_001286057.1|5|1),downstream_gene_variant(MODIFIER||75|||MIR6771||NON_CODING|NR_106829.1||1)","GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ADCY7,SILENT,NM_001114.4:p.Ala672Ala/c.2016C>T,gcC/gcT,LOW,COSM435351(1),0.0978435,0.0119,rs17289102,,,,,,chr16,50342658,50342658,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala672Ala/c.2016C>T|1080|ADCY7|protein_coding|CODING|NM_001114.4|16|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala672Ala/c.2016C>T|734|ADCY7|protein_coding|CODING|NM_001286057.1|17|1)","GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1247,0.1009,0.2515,0.19,0.06,0.26,,,,,,,,,,,,,,,,
synonymous_variant,NOD2,SILENT,NM_022162.2:p.Ser178Ser/c.534C>G,tcC/tcG,LOW,COSM435361(1),0.246605,0.0496,rs2067085,,,,,,chr16,50733859,50733859,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser151Ser/c.453C>G|1013|NOD2|protein_coding|CODING|NM_001293557.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser178Ser/c.534C>G|1040|NOD2|protein_coding|CODING|NM_022162.2|2|1)","HeLa-S3:DNase1,CD4:DNase1,GM12878:H3K36me3,HSMM:DNase1,HMEC:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1871,0.2954,0.4264,0.37,0.30,0.41,,,,,,,,,,,,,,,,
synonymous_variant,NOD2,SILENT,NM_022162.2:p.Arg587Arg/c.1761T>G,cgT/cgG,LOW,COSM3754920(2),0.216054,0.0992,rs1861759,,,,,,chr16,50745583,50745583,T,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg560Arg/c.1680T>G|1013|NOD2|protein_coding|CODING|NM_001293557.1|3|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg587Arg/c.1761T>G|1040|NOD2|protein_coding|CODING|NM_022162.2|4|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1677,0.2723,0.4165,0.34,0.21,0.40,,,,,,,,,,,,,,,,
missense_variant,SALL1,MISSENSE,NM_002968.2:p.Val1275Ile/c.3823G>A,Gtt/Att,MODERATE,,0.986821,1,rs4614723,0.41(T),"0.0,0.0(B,B)",-0.755(N),-0.9904(T),,chr16,51171175,51171175,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1178Ile/c.3532G>A|1227|SALL1|protein_coding|CODING|NM_001127892.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val1275Ile/c.3823G>A|1324|SALL1|protein_coding|CODING|NM_002968.2|3|1)","H1ESC:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,HepG2:H3K36me3",,,,1,0.9957,1,0.99,0.97,1.00,,0.000000(N),0.000(P),"1.19,1.19,1.19(T,T,T)",0.0000(T),0.043,-1.031871,5.8,3.5,-0.268000,0.101000,0.732000,0.960000,0.998000,1.000000,8.6079
synonymous_variant,SALL1,SILENT,NM_002968.2:p.Leu858Leu/c.2574C>T,ctC/ctT,LOW,COSM1128938(1),0.538738,0.7173,rs1965024,,,,,,chr16,51173559,51173559,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu761Leu/c.2283C>T|1227|SALL1|protein_coding|CODING|NM_001127892.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu858Leu/c.2574C>T|1324|SALL1|protein_coding|CODING|NM_002968.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7935,0.634,0.6223,0.49,0.20,0.64,,,,,,,,,,,,,,,,
synonymous_variant,TOX3,SILENT,NM_001080430.2:p.Pro535Pro/c.1605T>C,ccT/ccC,LOW,COSM148075(1),0.489617,0.2679,rs9925256,,,,,,chr16,52473263,52473263,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro535Pro/c.1605T>C|576|TOX3|protein_coding|CODING|NM_001080430.2|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro530Pro/c.1590T>C|571|TOX3|protein_coding|CODING|NM_001146188.1|8|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.455,0.3977,0.4473,0.56,0.74,0.47,,,,,,,,,,,,,,,,
synonymous_variant,CHD9,SILENT,NM_025134.4:p.Gln1283Gln/c.3849G>A,caG/caA,LOW,COSM3754930(2),0.304712,0.247,rs8052283,,,,,,chr16,53283966,53283966,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1283Gln/c.3849G>A|2881|CHD9|protein_coding|CODING|NM_025134.4|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3661,0.1902,0.2962,0.32,0.33,0.31,,,,,,,,,,,,,,,,
missense_variant,CHD9,MISSENSE,NM_025134.4:p.Arg1603Gln/c.4808G>A,cGa/cAa,MODERATE,,,,,0.22(T),"0.119,0.715,0.852(B,P,P)",1.14(L),0.1538(D),,chr16,53307628,53307628,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1603Gln/c.4808G>A|2881|CHD9|protein_coding|CODING|NM_025134.4|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.009094(N),1.000(D),"-1.91,-1.91(D,D)",0.6192(D),0.519,3.074120,5.43,5.43,0.563000,2.551000,3.917000,0.996000,0.997000,0.998000,19.2344
synonymous_variant,CHD9,SILENT,NM_025134.4:p.Gln1802Gln/c.5406G>A,caG/caA,LOW,COSM148078(3),0.298922,0.247,rs2287078,,,,,,chr16,53326860,53326860,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1802Gln/c.5406G>A|2881|CHD9|protein_coding|CODING|NM_025134.4|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.1902,0.2962,0.32,0.33,0.31,,,,,,,,,,,,,,,,
missense_variant,CHD9,MISSENSE,NM_025134.4:p.Asp2312Glu/c.6936T>G,gaT/gaG,MODERATE,,0.826877,0.7837,rs6499548,1(T),"0.006,0.0,0.085,0.003(B,B,B,B)",-1.43(N),-0.9394(T),,chr16,53341748,53341748,T,G,het,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp2312Glu/c.6936T>G|2881|CHD9|protein_coding|CODING|NM_025134.4|33|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.774,0.8098,0.7913,0.83,0.91,0.79,,0.000017(N),1.000(P),"-1.87,-1.96(D,D)",0.0000(T),0.069,-0.688813,5.71,4.73,-0.127000,0.845000,1.123000,0.196000,0.999000,1.000000,7.839
missense_variant,CHD9,MISSENSE,NM_025134.4:p.Thr2760Ala/c.8278A>G,Aca/Gca,MODERATE,COSM435387(1),0.210663,0.2341,rs3743771,0.98(T),"0.003,0.009,0.004,0.009(B,B,B,B)",1.04(L),-1.0971(T),,chr16,53358439,53358439,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr2760Ala/c.8278A>G|2881|CHD9|protein_coding|CODING|NM_025134.4|39|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.271,0.1571,0.2704,0.24,0.15,0.28,,0.001198(N),0.007(P),-1.99(D),0.0000(T),0.187,-0.646382,5.47,3.22,0.533000,0.457000,2.344000,0.734000,0.847000,0.970000,9.8557
missense_variant,LOC643802,MISSENSE,NM_001207030.1:p.Gly92Val/c.275G>T,gGt/gTt,MODERATE,,0.732827,0.9196,rs10775327,,,,,,chr16,53404203,53404203,C,A,hom,missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly92Val/c.275G>T|151|LOC643802|protein_coding|CODING|NM_001207030.1|2|1),"HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7311,0.7118,0.7187,,,,,,,,,,,,,,,,,,,
missense_variant,RBL2,MISSENSE,NM_005611.3:p.Tyr210Cys/c.629A>G,tAt/tGt,MODERATE,COSM4129114(1),0.108027,0.001,rs17800727,0.19(T),"0.271,0.87(B,P)",0.16(N),-1.0578(T),,chr16,53481010,53481010,A,G,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr210Cys/c.629A>G|1139|RBL2|protein_coding|CODING|NM_005611.3|4|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0828,0.2075,0.2883,0.22,0.05,0.31,,0.000001(D),0.000(P),"-0.71,-0.71(T,T)",0.0000(T),0.603,3.289226,5.38,5.38,0.482000,2.047000,5.903000,0.979000,1.000000,1.000000,15.3883
synonymous_variant,RBL2,SILENT,NM_005611.3:p.Thr694Thr/c.2082G>A,acG/acA,LOW,,0.505391,0.1786,rs1131220,,,,,,chr16,53503934,53503934,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr694Thr/c.2082G>A|1139|RBL2|protein_coding|CODING|NM_005611.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.4049,0.4662,0.58,0.77,0.49,,,,,,,,,,,,,,,,
synonymous_variant,RBL2,SILENT,NM_005611.3:p.Arg697Arg/c.2091C>G,cgC/cgG,LOW,,0.254393,0.0496,rs11540358,,,,,,chr16,53503943,53503943,C,G,het,synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg697Arg/c.2091C>G|1139|RBL2|protein_coding|CODING|NM_005611.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.2406,0.2992,0.33,0.35,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RBL2,SILENT,NM_005611.3:p.Leu864Leu/c.2590T>C,Ttg/Ctg,LOW,COSM4129115(1),0.503994,0.1786,rs10748,,,,,,chr16,53504721,53504721,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu864Leu/c.2590T>C|1139|RBL2|protein_coding|CODING|NM_005611.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.4049,0.4662,0.58,0.77,0.49,,,,,,,,,,,,,,,,
missense_variant,IRX3,MISSENSE,NM_024336.2:p.Leu422Pro/c.1265T>C,cTg/cCg,MODERATE,COSM4129116(1),0.96865,1,rs1450355,0.23(T),0.0(B),-0.895(N),-1.0233(T),,chr16,54318528,54318528,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu422Pro/c.1265T>C|501|IRX3|protein_coding|CODING|NM_024336.2|2|1),"HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,1,0.987,1,0.98,0.94,1.00,,0.286760(N),0.177(P),0.58(T),0.0000(T),0.052,0.303067,4.4,2.45,-1.528000,0.155000,1.455000,0.000000,0.984000,1.000000,5.143
synonymous_variant,MMP2,SILENT,NM_004530.4:p.Asp383Asp/c.1149T>C,gaT/gaC,LOW,COSM4129119(1),0.79992,0.8016,rs243849,,,,,,chr16,55523705,55523705,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp333Asp/c.999T>C|610|MMP2|protein_coding|CODING|NM_001127891.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp383Asp/c.1149T>C|660|MMP2|protein_coding|CODING|NM_004530.4|7|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8865,0.804,0.8419,0.80,0.71,0.85,,,,,,,,,,,,,,,,
missense_variant,LPCAT2,MISSENSE,NM_017839.4:p.Met163Ile/c.489G>A,atG/atA,MODERATE,,0.517772,0.4296,rs837550,1(T),0.001(B),-1.105(N),-1.0011(T),,chr16,55562466,55562466,G,A,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met163Ile/c.489G>A|544|LPCAT2|protein_coding|CODING|NM_017839.4|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6452,0.621,0.6461,0.56,0.38,0.65,,0.076759(N),1.000(P),-3.13(D),0.0000(T),0.183,-1.747828,5.8,-3.8,-0.203000,-0.392000,-1.098000,0.272000,0.006000,0.003000,7.5195
synonymous_variant,CAPNS2,SILENT,NM_032330.1:p.Glu240Glu/c.720A>G,gaA/gaG,LOW,,0.422923,0.4087,rs1502003,,,,,,chr16,55601388,55601388,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu240Glu/c.720A>G|248|CAPNS2|protein_coding|CODING|NM_032330.1|1|1),intron_variant(MODIFIER|||c.1216-7155A>G|544|LPCAT2|protein_coding|CODING|NM_017839.4|11|1)","NHEK:H3K9ac,NHEK:H3K27ac,NHEK:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:DNase1,HSMM:DNase1,NHEK:H3K36me3,NHEK:H3K4me2,HMEC:DNase1",,,,0.5072,0.353,0.4632,0.44,0.40,0.46,,,,,,,,,,,,,,,,
synonymous_variant,SLC6A2,SILENT,NM_001172504.1:p.Thr429Thr/c.1287G>A,acG/acA,LOW,COSM3754932(1),0.233427,0.2599,rs386599040,,,,,,chr16,55731835,55731835,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr429Thr/c.1287G>A|617|SLC6A2|protein_coding|CODING|NM_001043.3|9|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr429Thr/c.1287G>A|617|SLC6A2|protein_coding|CODING|NM_001172501.1|10|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr324Thr/c.972G>A|512|SLC6A2|protein_coding|CODING|NM_001172502.1|7|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr429Thr/c.1287G>A|628|SLC6A2|protein_coding|CODING|NM_001172504.1|9|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1881,0.3617,0.3598,0.26,0.12,0.33,,,,,,,,,,,,,,,,
missense_variant,CES1,MISSENSE,NM_001025195.1:p.Ser83Leu/c.248C>T,tCg/tTg,MODERATE,COSM1745024(1),,,rs62028647,0(D),"0.509,0.509,0.375(P,P,B)",2.61(M),-0.9810(T),,chr16,55862691,55862691,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser82Leu/c.245C>T|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser82Leu/c.245C>T|566|CES1|protein_coding|CODING|NM_001266.4|2|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser83Leu/c.248C>T|568|CES1|protein_coding|CODING|NM_001025195.1|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,0.007582(N),0.840(D),"-0.35,-0.35,-0.35(T,T,T)",0.0000(T),0.362,1.827253,4.48,4.48,0.393000,2.051000,3.676000,0.053000,0.984000,0.941000,14.6933
synonymous_variant,CES1,SILENT,NM_001025195.1:p.Pro74Pro/c.222A>G,ccA/ccG,LOW,COSM4129125(2),,,rs76828834,,,,,,chr16,55862717,55862717,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro73Pro/c.219A>G|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro73Pro/c.219A>G|566|CES1|protein_coding|CODING|NM_001266.4|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro74Pro/c.222A>G|568|CES1|protein_coding|CODING|NM_001025195.1|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CES1,SILENT,NM_001025195.1:p.Glu73Glu/c.219A>G,gaA/gaG,LOW,COSM1378424(4),,,rs74019278,,,,,,chr16,55862720,55862720,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu72Glu/c.216A>G|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu72Glu/c.216A>G|566|CES1|protein_coding|CODING|NM_001266.4|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu73Glu/c.219A>G|568|CES1|protein_coding|CODING|NM_001025195.1|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CES1,SILENT,NM_001025195.1:p.Pro59Pro/c.177G>C,ccG/ccC,LOW,COSM1378425(3),,,rs3826194,,,,,,chr16,55862762,55862762,C,G,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro58Pro/c.174G>C|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro58Pro/c.174G>C|566|CES1|protein_coding|CODING|NM_001266.4|2|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro59Pro/c.177G>C|568|CES1|protein_coding|CODING|NM_001025195.1|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CES1,MISSENSE,NM_001025195.1:p.Ile50Val/c.148A>G,Att/Gtt,MODERATE,COSM4129126(3),,,rs114632091,1(T),"0.001,0.001,0.0(B,B,B)",-1.75(N),-0.9641(T),,chr16,55862791,55862791,T,C,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile49Val/c.145A>G|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile49Val/c.145A>G|566|CES1|protein_coding|CODING|NM_001266.4|2|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile50Val/c.148A>G|568|CES1|protein_coding|CODING|NM_001025195.1|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,0.015560(N),1.000(N),"-0.1,-0.1,-0.1(T,T,T)",0.0463(T),0.024,-2.119403,4.48,2.48,-0.534000,0.358000,0.503000,0.060000,0.534000,0.001000,8.5586
missense_variant,CES1,MISSENSE,NM_001025195.1:p.Val39Ile/c.115G>A,Gtc/Atc,MODERATE,,,,rs3826192,0.2(T),"0.014,0.014,0.008(B,B,B)",0.94(L),-0.9566(T),,chr16,55862824,55862824,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val38Ile/c.112G>A|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val38Ile/c.112G>A|566|CES1|protein_coding|CODING|NM_001266.4|2|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val39Ile/c.115G>A|568|CES1|protein_coding|CODING|NM_001025195.1|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,0.144578(N),1.000(N),"3.07,3.07,-0.37(T,T,T)",0.1702(T),0.05,0.047210,4.48,3.5,0.393000,0.849000,0.558000,0.063000,0.003000,0.000000,10.7143
synonymous_variant,CES1,SILENT,NM_001025195.1:p.Leu35Leu/c.103C>T,Ctg/Ttg,LOW,COSM1378426(3),,,rs3826191,,,,,,chr16,55862836,55862836,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu34Leu/c.100C>T|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu34Leu/c.100C>T|566|CES1|protein_coding|CODING|NM_001266.4|2|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu35Leu/c.103C>T|568|CES1|protein_coding|CODING|NM_001025195.1|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CES1,MISSENSE,NM_001025195.1:p.Gly19Val/c.56G>T,gGg/gTg,MODERATE,COSM1128928(5),,,rs3826190,0.01(D),"0.969,0.958,0.891(D,D,P)",1.96(M),-0.8422(T),,chr16,55862883,55862883,C,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly18Val/c.53G>T|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly18Val/c.53G>T|566|CES1|protein_coding|CODING|NM_001266.4|2|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly19Val/c.56G>T|568|CES1|protein_coding|CODING|NM_001025195.1|2|1),splice_region_variant(LOW|||c.53G>T|567|CES1|protein_coding|CODING|NM_001025194.1|2|1),splice_region_variant(LOW|||c.53G>T|566|CES1|protein_coding|CODING|NM_001266.4|2|1)","GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,0.000020(N),1.000(D),"-0.24,-0.17,-0.17(T,T,T)",0.0000(T),0.599,3.604104,4.48,3.52,0.393000,2.051000,1.881000,0.099000,0.780000,0.940000,9.5301
synonymous_variant,CES5A,SILENT,NM_001190158.1:p.Pro476Pro/c.1428A>G,ccA/ccG,LOW,COSM3754938(1),0.688698,0.7768,rs2160276,,,,,,chr16,55883618,55883618,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro447Pro/c.1341A>G|575|CES5A|protein_coding|CODING|NM_001143685.1|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro476Pro/c.1428A>G|604|CES5A|protein_coding|CODING|NM_001190158.1|12|1),intron_variant(MODIFIER|||c.1274-2866A>G|525|CES5A|protein_coding|CODING|NM_145024.2|10|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5961,0.7839,0.7455,0.70,0.63,0.73,,,,,,,,,,,,,,,,
synonymous_variant,CES5A,SILENT,NM_001190158.1:p.His135His/c.405T>C,caT/caC,LOW,,0.990815,1,rs3859108,,,,,,chr16,55905636,55905636,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His106His/c.318T>C|575|CES5A|protein_coding|CODING|NM_001143685.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His135His/c.405T>C|604|CES5A|protein_coding|CODING|NM_001190158.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His106His/c.318T>C|525|CES5A|protein_coding|CODING|NM_145024.2|3|1)","HepG2:H3K4me2,HepG2:HNF4A,HepG2:DNase1,HepG2:H3K27me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GNAO1,SILENT,NM_138736.2:p.Lys317Lys/c.951A>G,aaA/aaG,LOW,COSM3754939(1),0.409944,0.2242,rs1799917,,,,,,chr16,56377748,56377748,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys317Lys/c.951A>G|354|GNAO1|protein_coding|CODING|NM_138736.2|8|1),intron_variant(MODIFIER|||c.723+6976A>G|354|GNAO1|protein_coding|CODING|NM_020988.2|6|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.5102,0.2435,0.326,0.42,0.57,0.35,,,,,,,,,,,,,,,,
missense_variant,BBS2,MISSENSE,NM_031885.3:p.Ser70Asn/c.209G>A,aGc/aAc,MODERATE,,0.996406,1,rs4784677,1(T),,,-0.9091(T),,chr16,56548501,56548501,C,T,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser70Asn/c.209G>A|721|BBS2|protein_coding|CODING|NM_031885.3|2|1),NHEK:H3K36me3,,RCV000004838.1,,0.9939,0.9986,0.9911,0.99,1.00,0.99,,0.000000(N),1.000(P),-1.16(T),0.0000(T),0.168,0.718579,5.54,5.54,-0.332000,0.950000,5.011000,0.994000,1.000000,1.000000,10.2501
missense_variant,MT4,MISSENSE,NM_032935.2:p.Tyr30Cys/c.89A>G,tAt/tGt,MODERATE,,0.858427,0.7183,rs666636,1(T),0.0(B),,-0.9379(T),,chr16,56601720,56601720,A,G,hom,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr30Cys/c.89A>G|62|MT4|protein_coding|CODING|NM_032935.2|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9611,0.9496,0.9662,0.92,0.81,0.98,,0.000000(N),1.000(P),3.38(T),0.0000(T),0.389,0.491731,5.73,5.73,-0.186000,1.449000,4.767000,0.197000,0.968000,1.000000,10.9507
missense_variant,MT4,MISSENSE,NM_032935.2:p.Trp31Arg/c.91T>C,Tgg/Cgg,MODERATE,,0.866014,0.7192,rs666647,0.49(T),0.0(B),,-0.9506(T),,chr16,56601722,56601722,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp31Arg/c.91T>C|62|MT4|protein_coding|CODING|NM_032935.2|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9611,0.9524,0.9662,0.93,0.84,0.98,,0.000250(N),1.000(P),3.23(T),0.0000(T),0.219,0.180928,5.73,4.72,-0.186000,1.449000,0.095000,0.160000,0.958000,0.099000,6.802
missense_variant,MT1M,MISSENSE,NM_176870.2:p.Thr20Lys/c.59C>A,aCg/aAg,MODERATE,,0.710663,0.6657,rs1827210,1(T),0.002(B),,-0.9983(T),,chr16,56667282,56667282,C,A,het,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr20Lys/c.59C>A|61|MT1M|protein_coding|CODING|NM_176870.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7965,0.7867,0.832,0.77,0.60,0.85,,0.017646(N),1.000(P),3.23(T),0.0000(T),0.139,-2.343099,2.45,-0.0809,-0.533000,-0.602000,0.288000,0.202000,0.153000,0.014000,4.0918
missense_variant,MT1A,MISSENSE,NM_005946.2:p.Thr27Asn/c.80C>A,aCc/aAc,MODERATE,,0.470647,0.4752,rs11640851,0.01(D),0.642(P),,-1.0172(T),,chr16,56673227,56673227,C,A,het,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr27Asn/c.80C>A|61|MT1A|protein_coding|CODING|NM_005946.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5153,0.6167,0.6441,0.53,0.29,0.65,,0.000013(U),0.002(P),2.91(T),0.0000(T),0.11,0.209331,2.93,1.96,-0.380000,0.552000,1.566000,0.005000,0.839000,0.886000,7.5905
missense_variant,MT1A,MISSENSE,NM_005946.2:p.Lys51Arg/c.152A>G,aAa/aGa,MODERATE,,0.176518,0.2292,rs8052394,0.02(D),0.049(B),,-0.9895(T),,chr16,56673828,56673828,A,G,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys51Arg/c.152A>G|61|MT1A|protein_coding|CODING|NM_005946.2|3|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.184,0.1671,0.1441,0.14,0.17,0.13,,0.000010(U),0.551(P),2.64(T),0.0000(T),0.086,0.742314,3.07,1.95,-0.624000,0.358000,4.890000,0.004000,0.976000,1.000000,6.2045
synonymous_variant,NUP93,SILENT,NM_014669.4:p.Tyr128Tyr/c.384C>T,taC/taT,LOW,COSM3754943(1),0.0992412,0.1558,rs1803870,,,,,,chr16,56839439,56839439,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr5Tyr/c.15C>T|696|NUP93|protein_coding|CODING|NM_001242795.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr5Tyr/c.15C>T|696|NUP93|protein_coding|CODING|NM_001242796.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr128Tyr/c.384C>T|819|NUP93|protein_coding|CODING|NM_014669.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.1239,0.1074,0.09,0.06,0.11,,,,,,,,,,,,,,,,
synonymous_variant,NUP93,SILENT,NM_014669.4:p.Leu215Leu/c.645C>G,ctC/ctG,LOW,COSM3754944(1),0.875799,0.9236,rs2118017,,,,,,chr16,56855496,56855496,C,G,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu92Leu/c.276C>G|696|NUP93|protein_coding|CODING|NM_001242795.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu92Leu/c.276C>G|696|NUP93|protein_coding|CODING|NM_001242796.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu215Leu/c.645C>G|819|NUP93|protein_coding|CODING|NM_014669.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8691,0.853,0.8191,0.83,0.88,0.81,,,,,,,,,,,,,,,,
missense_variant,SLC12A3,MISSENSE,NM_000339.2:p.Ala13Pro/c.37G>C,Gcc/Ccc,MODERATE,,0.000599042,0,rs147200024,0.33(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.8521(T),,chr16,56899184,56899184,G,C,het,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala13Pro/c.37G>C|1030|SLC12A3|protein_coding|CODING|NM_000339.2|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala13Pro/c.37G>C|1029|SLC12A3|protein_coding|CODING|NM_001126107.1|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala13Pro/c.37G>C|1021|SLC12A3|protein_coding|CODING|NM_001126108.1|1|1)","HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,HeLa-S3:H3K4me2,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,HeLa-S3:H3K4me3",,,,0,0.0014,0.002,0.00,0.00,0.00,,0.090768(N),1.000(N),"-1.89,-1.88(D,D)",0.2886(T),0.684,-1.409807,4.95,1.73,-0.147000,0.093000,0.422000,0.217000,0.048000,0.044000,8.9548
missense_variant,SLC12A3,MISSENSE,NM_000339.2:p.Ala264Gly/c.791C>G,gCc/gGc,MODERATE,COSM4129132(1),0.990615,1,rs1529927,1(T),"0.0,0.0,0.0(B,B,B)",-1.765(N),-0.9250(T),,chr16,56904587,56904587,C,G,hom,"missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala264Gly/c.791C>G|1030|SLC12A3|protein_coding|CODING|NM_000339.2|6|1),missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala263Gly/c.788C>G|1029|SLC12A3|protein_coding|CODING|NM_001126107.1|6|1),missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala264Gly/c.791C>G|1021|SLC12A3|protein_coding|CODING|NM_001126108.1|6|1)","GM12878:H3K4me1,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.999,0.9899,0.9612,0.97,0.99,0.96,,0.000000(N),0.977(P),,0.0000(T),0.308,-0.148654,4.94,4.94,-0.215000,1.075000,7.970000,0.141000,0.914000,1.000000,15.4513
synonymous_variant,SLC12A3,SILENT,NM_000339.2:p.Ser628Ser/c.1884G>A,tcG/tcA,LOW,,0.0642971,0.0437,rs5802,,,,,,chr16,56919235,56919235,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser628Ser/c.1884G>A|1030|SLC12A3|protein_coding|CODING|NM_000339.2|15|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser627Ser/c.1881G>A|1029|SLC12A3|protein_coding|CODING|NM_001126107.1|15|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser628Ser/c.1884G>A|1021|SLC12A3|protein_coding|CODING|NM_001126108.1|15|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HeLa-S3:PolII,K562:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.0706,0.072,0.1133,0.07,0.04,0.09,,,,,,,,,,,,,,,,
missense_variant,SLC12A3,MISSENSE,NM_000339.2:p.Arg913Gln/c.2738G>A,cGg/cAg,MODERATE,,0.0798722,0.0744,rs11643718,1(T),"0.001,0.001,0.001(B,B,B)",-0.67(N),-0.9962(T),,chr16,56933519,56933519,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg913Gln/c.2738G>A|1030|SLC12A3|protein_coding|CODING|NM_000339.2|23|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg912Gln/c.2735G>A|1029|SLC12A3|protein_coding|CODING|NM_001126107.1|23|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg904Gln/c.2711G>A|1021|SLC12A3|protein_coding|CODING|NM_001126108.1|23|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.0838,0.1369,0.1392,0.08,0.02,0.10,,0.002511(N),0.995(P),,0.0001(T),0.088,-0.078648,4.9,1.7,0.561000,0.079000,1.550000,0.787000,0.158000,0.961000,8.3737
missense_variant,CETP,MISSENSE,NM_000078.2:p.Val422Ile/c.1264G>A,Gtc/Atc,MODERATE,COSM3754947(1),0.533946,0.5635,rs5882,0.37(T),"0.0,0.003(B,B)",-0.55(N),-0.9868(T),,chr16,57016092,57016092,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val422Ile/c.1264G>A|493|CETP|protein_coding|CODING|NM_000078.2|14|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val362Ile/c.1084G>A|433|CETP|protein_coding|CODING|NM_001286085.1|13|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000019077.1,,0.5501,0.5994,0.669,0.59,0.41,0.68,,0.775724(N),1.000(P),"3.35,3.35(T,T)",0.0000(T),0.043,-1.024059,3.66,-6.67,-0.461000,-1.419000,-2.553000,0.221000,0.001000,0.000000,8.142
synonymous_variant,NLRC5,SILENT,NM_032206.4:p.Ser906Ser/c.2718T>C,agT/agC,LOW,COSM148084(3),0.576278,0.3958,rs1684579,,,,,,chr16,57071113,57071113,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser906Ser/c.2718T>C|1866|NLRC5|protein_coding|CODING|NM_032206.4|14|1),"CD4:H2BK5ac,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5153,0.6081,0.7455,0.69,0.63,0.71,,,0.000(P),,,.,-0.547262,3.78,-4.08,-1.577000,-1.299000,-2.080000,0.166000,0.509000,0.002000,14.8124
missense_variant,NLRC5,MISSENSE,NM_032206.4:p.Asn907Asp/c.2719A>G,Aac/Gac,MODERATE,COSM4129138(1),0.994409,0.999,rs1672867,0.75(T),"0.0,0.001,0.0,0.001(B,B,B,B)",-1.245(N),-0.9998(T),,chr16,57071114,57071114,A,G,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn907Asp/c.2719A>G|1866|NLRC5|protein_coding|CODING|NM_032206.4|14|1),"CD4:H2BK5ac,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9898,0.9942,0.9871,0.99,1.00,0.98,,0.048398(N),1.000(P),"0.62,0.62,0.62,0.62,0.62,0.62(T,T,T,T,T,T)",0.0000(T),0.263,-1.995975,3.78,1.81,-0.404000,0.216000,-0.193000,0.158000,0.568000,0.014000,4.0753
missense_variant,NLRC5,MISSENSE,NM_032206.4:p.Gln1105Lys/c.3313C>A,Cag/Aag,MODERATE,COSM3999885(1),0.168331,0.1081,rs289723,1(T),"0.004,0.009,0.013(B,B,B)",1.95(M),-1.0431(T),,chr16,57080528,57080528,C,A,het,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln1105Lys/c.3313C>A|1866|NLRC5|protein_coding|CODING|NM_032206.4|21|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2454,0.2911,0.2455,0.22,0.08,0.29,,0.691069(N),1.000(P),"-0.51,-0.53,-0.7,-0.53(T,T,T,T)",0.0000(T),0.216,0.213957,3.55,1.52,-0.254000,0.475000,0.665000,0.001000,0.001000,0.000000,5.0579
synonymous_variant,NLRC5,SILENT,NM_032206.4:p.Asp1620Asp/c.4860C>T,gaC/gaT,LOW,COSM3754950(2),0.172524,0.1468,rs11864231,,,,,,chr16,57111232,57111232,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1620Asp/c.4860C>T|1866|NLRC5|protein_coding|CODING|NM_032206.4|40|1),"GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2239,0.1816,0.2326,0.19,0.13,0.21,,,,,,,,,,,,,,,,
missense_variant,CCL22,MISSENSE,NM_002990.4:p.Asp2Ala/c.5A>C,gAt/gCt,MODERATE,,0.916534,0.879,rs4359426,1(T),0.0(B),,-0.9637(T),,chr16,57392733,57392733,A,C,het,missense_variant(MODERATE|MISSENSE|gAt/gCt|p.Asp2Ala/c.5A>C|93|CCL22|protein_coding|CODING|NM_002990.4|1|1),"GM06990:H3K4me3,GM12878:ZEB1,GM12878:PolII,IMR90:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1",,,,0.9141,0.8372,0.9652,0.95,0.95,0.95,,0.003894(N),1.000(P),4.3(T),0.0000(T),0.075,-0.302846,3.45,3.45,-0.121000,1.057000,1.024000,0.035000,0.775000,0.759000,8.3578
synonymous_variant,POLR2C,SILENT,NM_032940.2:p.Val58Val/c.174T>C,gtT/gtC,LOW,COSM3999888(1),0.758387,0.6091,rs4937,,,,,,chr16,57499902,57499902,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val58Val/c.174T>C|275|POLR2C|protein_coding|CODING|NM_032940.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7198,0.6513,0.7485,0.82,0.93,0.76,,,,,,,,,,,,,,,,
missense_variant,CCDC102A,MISSENSE,NM_033212.3:p.Arg96Trp/c.286C>T,Cgg/Tgg,MODERATE,COSM3754954(3),1,1,rs12935069,0.24(T),0.0(B),-2.415(N),-0.9305(T),,chr16,57562804,57562804,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg96Trp/c.286C>T|550|CCDC102A|protein_coding|CODING|NM_033212.3|2|1),"H1ESC:PolII,H1ESC:H3K36me3,H1ESC:H3K9ac,H1ESC:TAF1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000001(N),0.978(P),1.18(T),0.0000(T),0.327,1.277909,4.82,4.82,-0.556000,0.698000,6.801000,0.971000,1.000000,1.000000,9.5348
missense_variant,CNGB1,MISSENSE,NM_001297.4:p.Ala961Val/c.2882C>T,gCa/gTa,MODERATE,COSM3754957(1),0.0399361,0.0079,rs112002818,0.22(T),"0.086,0.186(B,B)",1.67(L),-0.2979(T),,chr16,57935442,57935442,G,A,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala955Val/c.2864C>T|1245|CNGB1|protein_coding|CODING|NM_001286130.1|28|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala961Val/c.2882C>T|1251|CNGB1|protein_coding|CODING|NM_001297.4|28|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K4me3,HepG2:FOSL2,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000086950.1,,0.1063,0.0187,0.0726,0.04,0.01,0.06,,0.000026(D),1.000(D),-4.08(D),0.2147(T),0.379,2.183705,4.87,4.87,0.561000,2.245000,4.769000,0.064000,0.993000,1.000000,10.6253
synonymous_variant,CNGB1,SILENT,NM_001297.4:p.Ala888Ala/c.2664C>G,gcC/gcG,LOW,,0.704872,0.9077,rs413562,,,,,,chr16,57937856,57937856,G,C,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala882Ala/c.2646C>G|1245|CNGB1|protein_coding|CODING|NM_001286130.1|27|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala888Ala/c.2664C>G|1251|CNGB1|protein_coding|CODING|NM_001297.4|27|1)","GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000079632.1,,0.8436,0.7291,0.7555,0.79,0.66,0.85,,,,,,,,,,,,,,,,
synonymous_variant,CNGB1,SILENT,NM_001297.4:p.Ala839Ala/c.2517T>C,gcT/gcC,LOW,,0.0119808,0,rs17821412,,,,,,chr16,57938755,57938755,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala833Ala/c.2499T>C|1245|CNGB1|protein_coding|CODING|NM_001286130.1|26|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala839Ala/c.2517T>C|1251|CNGB1|protein_coding|CODING|NM_001297.4|26|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0072,0.0497,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CNGB1,SILENT,NM_001297.4:p.Asn731Asn/c.2193C>T,aaC/aaT,LOW,COSM3754958(1),0.362021,0.5486,rs376270,,,,,,chr16,57950057,57950057,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn725Asn/c.2175C>T|1245|CNGB1|protein_coding|CODING|NM_001286130.1|22|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn731Asn/c.2193C>T|1251|CNGB1|protein_coding|CODING|NM_001297.4|22|1)","HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4765,0.3372,0.3191,0.29,0.19,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CNGB1,SILENT,NM_001297.4:p.Gly109Gly/c.327C>T,ggC/ggT,LOW,,0.314097,0.3403,rs17821448,,,,,,chr16,57996932,57996932,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly109Gly/c.327C>T|299|CNGB1|protein_coding|CODING|NM_001135639.1|5|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly109Gly/c.327C>T|1245|CNGB1|protein_coding|CODING|NM_001286130.1|5|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly109Gly/c.327C>T|1251|CNGB1|protein_coding|CODING|NM_001297.4|5|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.456,0.304,0.497,0.37,0.12,0.49,,,,,,,,,,,,,,,,
missense_variant,CNGB1,MISSENSE,NM_001297.4:p.Arg100His/c.299G>A,cGc/cAc,MODERATE,,0.751997,0.8214,rs13336595,0.24(T),"0.396,0.14(B,B)",0.69(N),-0.9043(T),,chr16,57996960,57996960,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg100His/c.299G>A|299|CNGB1|protein_coding|CODING|NM_001135639.1|5|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg100His/c.299G>A|1245|CNGB1|protein_coding|CODING|NM_001286130.1|5|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg100His/c.299G>A|1251|CNGB1|protein_coding|CODING|NM_001297.4|5|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6963,0.8487,0.7644,0.75,0.72,0.77,,,1.000(P),"-4.04,0.92(D,T)",0.0000(T),0.221,0.674537,3.95,1.88,0.306000,0.236000,0.080000,0.218000,0.041000,0.000000,5.5435
missense_variant,TEPP,MISSENSE,NM_199046.2:p.Ser260Asn/c.779G>A,aGc/aAc,MODERATE,COSM4129151(2),0.783546,0.5595,rs9934227,1(T),"0.0,0.0(B,B)",-2.56(N),-0.9820(T),,chr16,58019396,58019396,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser260Asn/c.779G>A|298|TEPP|protein_coding|CODING|NM_199046.2|6|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser233Asn/c.698G>A|271|TEPP|protein_coding|CODING|NM_199456.2|6|1)","K562:ZBTB7A,CD4:H2AZ,K562:H3K4me3,CD4:H3K18ac,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,K562:DNase1",,,,0.8579,0.585,0.8559,0.88,0.94,0.85,,0.001030(N),1.000(P),"1.08,1.02(T,T)",0.0000(T),0.013,0.170667,5.1,1.54,-0.442000,0.085000,0.593000,0.852000,0.997000,0.997000,7.8965
synonymous_variant,ZNF319,SILENT,NM_020807.1:p.Lys512Lys/c.1536G>A,aaG/aaA,LOW,COSM4129152(5),0.672324,0.5377,rs3743556,,,,,,chr16,58030634,58030634,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys512Lys/c.1536G>A|582|ZNF319|protein_coding|CODING|NM_020807.1|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7444,0.4899,0.6889,0.72,0.77,0.69,,,,,,,,,,,,,,,,
missense_variant,PRSS54,MISSENSE,NM_001080492.1:p.Ser182Gly/c.544A>G,Agt/Ggt,MODERATE,COSM148088(5),0.536941,0.3929,rs3815803,0.46(T),0.262(B),1.92(M),-0.9479(T),,chr16,58318604,58318604,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser182Gly/c.544A>G|395|PRSS54|protein_coding|CODING|NM_001080492.1|6|1),downstream_gene_variant(MODIFIER||870||323|CCDC113|protein_coding|CODING|NM_001142302.1||1),downstream_gene_variant(MODIFIER||870||377|CCDC113|protein_coding|CODING|NM_014157.3||1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.4744,0.3718,0.5537,0.62,0.74,0.56,,0.000016(D),0.512(P),"0.29,0.29(T,T)",0.0000(T),0.375,1.188593,5.83,3.28,-0.371000,1.046000,1.893000,0.109000,1.000000,1.000000,7.4576
synonymous_variant,PRSS54,SILENT,NM_001080492.1:p.Tyr25Tyr/c.75T>C,taT/taC,LOW,COSM148089(1),0.733427,0.631,rs2288012,,,,,,chr16,58327646,58327646,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr25Tyr/c.75T>C|395|PRSS54|protein_coding|CODING|NM_001080492.1|3|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.636,0.6167,0.7773,0.81,0.89,0.78,,,,,,,,,,,,,,,,
synonymous_variant,NDRG4,SILENT,NM_001130487.1:p.Thr307Thr/c.921G>A,acG/acA,LOW,,0.358826,0.5694,rs867583,,,,,,chr16,58542901,58542901,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr307Thr/c.921G>A|391|NDRG4|protein_coding|CODING|NM_001130487.1|13|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr285Thr/c.855G>A|369|NDRG4|protein_coding|CODING|NM_001242833.1|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr273Thr/c.819G>A|357|NDRG4|protein_coding|CODING|NM_001242834.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr255Thr/c.765G>A|352|NDRG4|protein_coding|CODING|NM_001242835.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr255Thr/c.765G>A|339|NDRG4|protein_coding|CODING|NM_001242836.1|11|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr287Thr/c.861G>A|371|NDRG4|protein_coding|CODING|NM_020465.3|13|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr287Thr/c.861G>A|371|NDRG4|protein_coding|CODING|NM_022910.3|13|1),non_coding_exon_variant(MODIFIER|||n.963G>A||NDRG4||CODING|NR_040072.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3497,0.2392,0.2127,0.26,0.37,0.20,,,,,,,,,,,,,,,,
synonymous_variant,NDRG4,SILENT,NM_001130487.1:p.Ser374Ser/c.1122A>G,tcA/tcG,LOW,,0.814297,0.9673,rs42945,,,,,,chr16,58545426,58545426,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser374Ser/c.1122A>G|391|NDRG4|protein_coding|CODING|NM_001130487.1|16|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser352Ser/c.1056A>G|369|NDRG4|protein_coding|CODING|NM_001242833.1|15|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser340Ser/c.1020A>G|357|NDRG4|protein_coding|CODING|NM_001242834.1|14|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser335Ser/c.1005A>G|352|NDRG4|protein_coding|CODING|NM_001242835.1|15|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser322Ser/c.966A>G|339|NDRG4|protein_coding|CODING|NM_001242836.1|14|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser354Ser/c.1062A>G|371|NDRG4|protein_coding|CODING|NM_020465.3|16|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser354Ser/c.1062A>G|371|NDRG4|protein_coding|CODING|NM_022910.3|16|1),non_coding_exon_variant(MODIFIER|||n.1164A>G||NDRG4||CODING|NR_040072.1|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7822,0.7392,0.5577,0.65,0.88,0.54,,,,,,,,,,,,,,,,
synonymous_variant,SETD6,SILENT,NM_001160305.1:p.Leu89Leu/c.265T>C,Ttg/Ctg,LOW,COSM3749370(10),0.769968,0.9544,rs4784046,,,,,,chr16,58549932,58549932,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu89Leu/c.265T>C|473|SETD6|protein_coding|CODING|NM_001160305.1|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu65Leu/c.193T>C|449|SETD6|protein_coding|CODING|NM_024860.2|3|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K36me3,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.7894,0.7104,0.5626,0.62,0.76,0.56,,,,,,,,,,,,,,,,
synonymous_variant,SETD6,SILENT,NM_001160305.1:p.Glu470Glu/c.1410G>A,gaG/gaA,LOW,,0.769569,0.9544,rs3607,,,,,,chr16,58552921,58552921,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu470Glu/c.1410G>A|473|SETD6|protein_coding|CODING|NM_001160305.1|8|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu446Glu/c.1338G>A|449|SETD6|protein_coding|CODING|NM_024860.2|9|1),downstream_gene_variant(MODIFIER||929||2371|CNOT1|protein_coding|CODING|NM_001265612.1||1),downstream_gene_variant(MODIFIER||929||2376|CNOT1|protein_coding|CODING|NM_016284.4||1),downstream_gene_variant(MODIFIER||929|||CNOT1||CODING|NR_049763.1||1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:PU1,GM12878:H3K4me2,GM06990:DNase1",,,,0.7904,0.7104,0.5616,0.62,0.76,0.55,,,,,,,,,,,,,,,,
synonymous_variant,CNOT1,SILENT,NM_016284.4:p.Tyr1572Tyr/c.4716C>T,taC/taT,LOW,,0.485224,0.5704,rs11540994,,,,,,chr16,58575489,58575489,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1567Tyr/c.4701C>T|2371|CNOT1|protein_coding|CODING|NM_001265612.1|34|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1572Tyr/c.4716C>T|2376|CNOT1|protein_coding|CODING|NM_016284.4|34|1),downstream_gene_variant(MODIFIER||1568||1551|CNOT1|protein_coding|CODING|NM_206999.2||1),non_coding_exon_variant(MODIFIER|||n.5034C>T||CNOT1||CODING|NR_049763.1|34|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4509,0.2983,0.3211,0.40,0.60,0.29,,,,,,,,,,,,,,,,
synonymous_variant,CNOT1,SILENT,NM_206999.2:p.Ala1508Ala/c.4524G>A,gcG/gcA,LOW,,0.80631,0.9712,rs41260,,,,,,chr16,58577421,58577421,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1508Ala/c.4524G>A|1551|CNOT1|protein_coding|CODING|NM_206999.2|31|1),intron_variant(MODIFIER|||c.4419+90G>A|2371|CNOT1|protein_coding|CODING|NM_001265612.1|31|1),intron_variant(MODIFIER|||c.4434+90G>A|2376|CNOT1|protein_coding|CODING|NM_016284.4|31|1),intron_variant(MODIFIER|||n.4752+90G>A||CNOT1||CODING|NR_049763.1|31|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7894,0.7392,0.5726,0.66,0.85,0.55,,,,,,,,,,,,,,,,
synonymous_variant,CNOT1,SILENT,NM_016284.4:p.Gln973Gln/c.2919G>A,caG/caA,LOW,,0.485224,0.5704,rs11866002,,,,,,chr16,58587737,58587737,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln968Gln/c.2904G>A|2371|CNOT1|protein_coding|CODING|NM_001265612.1|22|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln973Gln/c.2919G>A|2376|CNOT1|protein_coding|CODING|NM_016284.4|22|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln973Gln/c.2919G>A|1551|CNOT1|protein_coding|CODING|NM_206999.2|22|1),non_coding_exon_variant(MODIFIER|||n.3237G>A||CNOT1||CODING|NR_049763.1|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4509,0.2983,0.3211,0.40,0.60,0.29,,,,,,,,,,,,,,,,
synonymous_variant,CNOT1,SILENT,NM_016284.4:p.Gly303Gly/c.909A>G,ggA/ggG,LOW,COSM435466(1),0.202077,0.0288,rs17854029,,,,,,chr16,58616984,58616984,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly303Gly/c.909A>G|2371|CNOT1|protein_coding|CODING|NM_001265612.1|9|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly303Gly/c.909A>G|2376|CNOT1|protein_coding|CODING|NM_016284.4|9|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly303Gly/c.909A>G|1551|CNOT1|protein_coding|CODING|NM_206999.2|9|1),non_coding_exon_variant(MODIFIER|||n.1242A>G||CNOT1||CODING|NR_049763.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2117,0.268,0.4264,0.36,0.19,0.45,,,,,,,,,,,,,,,,
missense_variant,SLC38A7,MISSENSE,NM_018231.1:p.Thr78Ile/c.233C>T,aCt/aTt,MODERATE,COSM435471(1),0.11262,0.0228,rs7191331,,"0.013,0.014(B,B)",0(N),-0.7689(T),,chr16,58713798,58713798,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr78Ile/c.233C>T|462|SLC38A7|protein_coding|CODING|NM_018231.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1626,0.0778,0.1948,0.17,0.12,0.19,,0.000130(D),0.000(P),4.35(T),0.0000(T),0.306,1.434544,5.91,5.91,0.655000,2.813000,2.320000,0.010000,0.916000,0.991000,12.4954
missense_variant,GOT2,MISSENSE,NM_002080.3:p.Val346Gly/c.1037T>G,gTc/gGc,MODERATE,,0.755192,0.6607,rs30842,,"0.0,0.0(B,B)",-1.64(N),-0.9439(T),,chr16,58743454,58743454,A,C,hom,"missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val303Gly/c.908T>G|387|GOT2|protein_coding|CODING|NM_001286220.1|8|1),missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val346Gly/c.1037T>G|430|GOT2|protein_coding|CODING|NM_002080.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6851,0.7824,0.7097,0.75,0.86,0.69,,0.000059(N),0.642(P),"-2.64,-2.64(D,D)",0.0000(T),0.125,-0.149293,5.31,5.31,-0.127000,1.252000,3.160000,0.975000,1.000000,1.000000,14.6551
synonymous_variant,GOT2,SILENT,NM_002080.3:p.Cys272Cys/c.816C>T,tgC/tgT,LOW,COSM1128916(2),0.720248,0.6478,rs1058192,,,,,,chr16,58750604,58750604,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys229Cys/c.687C>T|387|GOT2|protein_coding|CODING|NM_001286220.1|6|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys272Cys/c.816C>T|430|GOT2|protein_coding|CODING|NM_002080.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5798,0.7738,0.67,0.71,0.84,0.65,,,,,,,,,,,,,,,,
synonymous_variant,GOT2,SILENT,NM_002080.3:p.Val76Val/c.228T>G,gtT/gtG,LOW,COSM3999894(2),0.708267,0.6339,rs14221,,,,,,chr16,58757668,58757668,A,C,hom,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val76Val/c.228T>G|387|GOT2|protein_coding|CODING|NM_001286220.1|2|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val76Val/c.228T>G|430|GOT2|protein_coding|CODING|NM_002080.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5798,0.7608,0.662,0.71,0.83,0.65,,,,,,,,,,,,,,,,
synonymous_variant,GOT2,SILENT,NM_002080.3:p.Asn71Asn/c.213T>C,aaT/aaC,LOW,COSM4129159(1),0.689497,0.6032,rs257636,,,,,,chr16,58757683,58757683,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn71Asn/c.213T>C|387|GOT2|protein_coding|CODING|NM_001286220.1|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn71Asn/c.213T>C|430|GOT2|protein_coding|CODING|NM_002080.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5767,0.7594,0.661,0.70,0.79,0.65,,,,,,,,,,,,,,,,
missense_variant,GOT2,MISSENSE,NM_002080.3:p.Ala2Ser/c.4G>T,Gcc/Tcc,MODERATE,COSM435472(3),0.0433307,0,rs11558171,,"0.935,0.935(D,D)",1.1(L),-1.1754(T),,chr16,58768129,58768129,C,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala2Ser/c.4G>T|387|GOT2|protein_coding|CODING|NM_001286220.1|1|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala2Ser/c.4G>T|430|GOT2|protein_coding|CODING|NM_002080.3|1|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HepG2:Nrsf,K562:SP2,HUVEC:H3K9ac,H1ESC:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,K562:Cmyc,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Nrsf,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.0613,0.0432,0.1203,0.08,0.02,0.11,,0.000000(D),0.954(D),"2.14,2.07(T,T)",0.0015(T),0.23,3.449346,4.94,4.94,0.563000,2.558000,3.168000,0.916000,1.000000,1.000000,13.5501
missense_variant,LOC729159,MISSENSE,NM_001282301.1:p.Asp68Val/c.203A>T,gAc/gTc,MODERATE,,0.508986,0.2282,rs2407146,,,,,,chr16,60393404,60393404,T,A,het,missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp68Val/c.203A>T|415|LOC729159|protein_coding|CODING|NM_001282301.1|1|1),,,,,0.5337,0.3415,0.5417,,,,,,,,,,,,,,,,,,,
missense_variant,CDH11,MISSENSE,NM_001797.2:p.Ser373Ala/c.1117T>G,Tca/Gca,MODERATE,,0.745407,0.995,rs35213,0.53(T),"0.004,0.002(B,B)",1.195(L),-0.9688(T),,chr16,65016087,65016087,A,C,het,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser373Ala/c.1117T>G|796|CDH11|protein_coding|CODING|NM_001797.2|8|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9029,0.7637,0.8052,0.69,0.45,0.82,,0.015046(N),1.000(P),"4.7,4.7(T,T)",0.0000(T),0.049,-1.026855,5.76,1.34,-0.121000,0.151000,-0.184000,0.272000,0.024000,0.000000,5.4029
synonymous_variant,CDH5,SILENT,NM_001795.3:p.Gly128Gly/c.384C>T,ggC/ggT,LOW,,0.622204,0.8175,rs1130844,,,,,,chr16,66420885,66420885,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly128Gly/c.384C>T|784|CDH5|protein_coding|CODING|NM_001795.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.5644,0.7017,0.5119,0.54,0.56,0.53,,,,,,,,,,,,,,,,
missense_variant,CDH5,MISSENSE,NM_001795.3:p.Ile503Thr/c.1508T>C,aTa/aCa,MODERATE,,0.0435304,0,rs16956504,0.3(T),0.005(B),-0.905(N),-1.0189(T),,chr16,66432381,66432381,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile503Thr/c.1508T>C|784|CDH5|protein_coding|CODING|NM_001795.3|10|1),"HUVEC:H3K36me3,IMR90:H3K27me3",,,,0.0726,0.0447,0.1113,0.08,0.02,0.11,,,0.778(P),0.92(T),0.0006(T),0.035,1.015519,4.95,-4.5,0.459000,-0.795000,-0.467000,0.989000,0.776000,0.101000,13.6298
missense_variant,CDH5,MISSENSE,NM_001795.3:p.Ile517Thr/c.1550T>C,aTc/aCc,MODERATE,COSM1128913(3),0.744409,0.8224,rs1049970,0.1(T),0.001(B),-0.97(N),-0.9946(T),,chr16,66432423,66432423,T,C,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile517Thr/c.1550T>C|784|CDH5|protein_coding|CODING|NM_001795.3|10|1),"HUVEC:H3K36me3,IMR90:H3K27me3",,,,0.6585,0.83,0.6869,0.58,0.62,0.56,,,0.000(P),0.26(T),0.0000(T),0.015,0.803910,4.95,3.99,-0.215000,0.699000,1.933000,0.055000,0.911000,0.998000,7.3952
synonymous_variant,CDH5,SILENT,NM_001795.3:p.Ile517Ile/c.1551C>T,atC/atT,LOW,COSM1378765(2),0.415136,0.5506,rs3826229,,,,,,chr16,66432424,66432424,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile517Ile/c.1551C>T|784|CDH5|protein_coding|CODING|NM_001795.3|10|1),"HUVEC:H3K36me3,IMR90:H3K27me3",,,,0.3292,0.4409,0.3678,0.02,0.02,0.01,,,,,,,,,,,,,,,,
missense_variant,TK2,MISSENSE,NM_004614.4:p.Arg32Trp/c.94C>T,Cgg/Tgg,MODERATE,,0.00239617,0,rs200121712,0.01(D),"0.446,0.353,0.446(B,B,B)",0.69(N),0.6448(D),,chr16,66583871,66583871,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg32Trp/c.94C>T|240|TK2|protein_coding|CODING|NM_001172644.1|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg32Trp/c.94C>T|247|TK2|protein_coding|CODING|NM_001172645.1|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg32Trp/c.94C>T|265|TK2|protein_coding|CODING|NM_004614.4|1|1),5_prime_UTR_variant(MODIFIER||1989|c.-149C>T|216|TK2|protein_coding|CODING|NM_001271934.1|1|1),upstream_gene_variant(MODIFIER||143||168|TK2|protein_coding|CODING|NM_001272050.1||1),intron_variant(MODIFIER|||c.31+285C>T|234|TK2|protein_coding|CODING|NM_001172643.1|1|1),intron_variant(MODIFIER|||c.31+285C>T|146|TK2|protein_coding|CODING|NM_001271935.1|1|1),non_coding_exon_variant(MODIFIER|||n.445C>T||TK2||CODING|NR_073520.1|1|1)","K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0031,0.0014,0.008,,,,,0.043495(N),1.000(N),"-5.23,-4.86,-4.94,-5.17(D,D,D,D)",0.8831(D),0.229,3.293009,2.76,1.76,0.491000,0.707000,2.018000,0.011000,0.001000,0.010000,6.7817
missense_variant,CCDC79,MISSENSE,NM_001136505.1:p.Gln653Arg/c.1958A>G,cAa/cGa,MODERATE,,0.34385,0.6161,rs363156,1(T),0.0(B),-1.61(N),-0.9233(T),,chr16,66792714,66792714,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln653Arg/c.1958A>G|727|CCDC79|protein_coding|CODING|NM_001136505.1|18|1),IMR90:H3K27me3,,,,0.3947,0.3963,0.3479,0.29,0.12,0.36,,,1.000(P),,0.0000(T),0.052,0.733318,4.96,-7.59,-1.010000,-1.282000,-1.224000,0.728000,0.000000,0.013000,14.4873
synonymous_variant,CCDC79,SILENT,NM_001136505.1:p.Thr274Thr/c.822G>A,acG/acA,LOW,COSM3754978(1),0.578275,0.6498,rs363162,,,,,,chr16,66812797,66812797,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr274Thr/c.822G>A|727|CCDC79|protein_coding|CODING|NM_001136505.1|10|1),,,,,0.5757,0.4928,0.4384,0.49,0.63,0.44,,,,,,,,,,,,,,,,
missense_variant,ELMO3,MISSENSE,NM_024712.3:p.Lys66Gln/c.196A>C,Aag/Cag,MODERATE,COSM3749373(6),0.596845,0.4117,rs12923138,0.42(T),"0.0,0.0(B,B)",-1.555(N),-0.9850(T),,chr16,67233266,67233266,A,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys66Gln/c.196A>C|773|ELMO3|protein_coding|CODING|NM_024712.3|1|1),downstream_gene_variant(MODIFIER||445||413|E2F4|protein_coding|CODING|NM_001950.3||1)","H1ESC:PolII,NHEK:CTCF,K562:PolII,NHEK:H3K4me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,HMEC:H3K4me3,NHEK:DNase1,H1ESC:CTCF",,,,0.5521,0.4308,0.4612,0.59,0.88,0.44,,0.000076(N),0.000(P),"2.55,2.55(T,T)",0.0000(T),0.049,0.795820,5.19,4.18,-0.215000,1.197000,2.004000,0.945000,1.000000,1.000000,7.9999
missense_variant,LRRC36,MISSENSE,NM_018296.5:p.Arg259Cys/c.775C>T,Cgt/Tgt,MODERATE,,0.00339457,0,rs77430254,0.18(T),"0.001,0.001,0.001(B,B,B)",0.69(N),-1.1005(T),,chr16,67400940,67400940,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg138Cys/c.412C>T|633|LRRC36|protein_coding|CODING|NM_001161575.1|5|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg259Cys/c.775C>T|754|LRRC36|protein_coding|CODING|NM_018296.5|8|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.0041,0.0029,0.0109,0.01,0.00,0.01,,0.380957(N),1.000(D),"3.15,1.43(T,T)",0.0428(T),0.111,3.211387,6.16,4.21,0.650000,0.926000,2.407000,0.832000,0.465000,0.964000,8.0061
missense_variant,ACD,MISSENSE,NM_001082486.1:p.Val518Ala/c.1553T>C,gTc/gCc,MODERATE,,0.571486,0.1617,rs6979,0.65(T),"0.0,0.0(B,B)",-0.92(N),-1.0197(T),,chr16,67691668,67691668,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val502Ala/c.1505T>C|528|ACD|protein_coding|CODING|NM_001082487.1|11|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val518Ala/c.1553T>C|544|ACD|protein_coding|CODING|NM_001082486.1|11|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val515Ala/c.1544T>C|541|ACD|protein_coding|CODING|NM_022914.2|11|1),downstream_gene_variant(MODIFIER||196||1435|RLTPR|protein_coding|CODING|NM_001013838.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5695,0.4784,0.5268,0.62,0.88,0.49,,0.885214(N),1.000(P),"1.58,1.58(T,T)",0.0000(T),0.019,-0.153252,4.76,1.6,-0.349000,-0.070000,-0.130000,0.808000,0.994000,0.095000,7.1387
synonymous_variant,SLC12A4,SILENT,NM_001145962.1:p.Arg963Arg/c.2887C>A,Cgg/Agg,LOW,,0.0301518,0,rs17851876,,,,,,chr16,67979423,67979423,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg955Arg/c.2863C>A|1079|SLC12A4|protein_coding|CODING|NM_001145961.1|22|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg963Arg/c.2887C>A|1087|SLC12A4|protein_coding|CODING|NM_001145962.1|21|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg955Arg/c.2863C>A|1079|SLC12A4|protein_coding|CODING|NM_001145963.1|22|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg930Arg/c.2788C>A|1054|SLC12A4|protein_coding|CODING|NM_001145964.1|22|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg961Arg/c.2881C>A|1085|SLC12A4|protein_coding|CODING|NM_005072.4|22|1),upstream_gene_variant(MODIFIER||1408||440|LCAT|protein_coding|CODING|NM_000229.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0695,0.0245,0.0646,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,DPEP2,MISSENSE,NM_022355.3:p.Pro201Arg/c.602C>G,cCt/cGt,MODERATE,,1,1,rs255051,1(T),"0.0,0.0(B,B)",-4(N),-0.9601(T),,chr16,68025801,68025801,G,C,hom,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro201Arg/c.602C>G|486|DPEP2|protein_coding|CODING|NM_022355.3|5|1),"H1ESC:H3K27me3,CD4:H4K20me1,HepG2:H3K27me3",,,,1,1,1,,,,,0.000000(N),0.000(P),"2.15,2.15(T,T)",0.0000(T),0.536,-1.052545,4.78,3.82,-0.216000,0.757000,3.748000,0.193000,0.048000,0.998000,9.8676
missense_variant,DDX28,MISSENSE,NM_018380.3:p.Thr4Ala/c.10A>G,Acg/Gcg,MODERATE,COSM3754989(2),0.972843,1,rs237831,1(T),0.0(B),0(N),-0.9487(T),,chr16,68057096,68057096,T,C,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr4Ala/c.10A>G|540|DDX28|protein_coding|CODING|NM_018380.3|1|1),5_prime_UTR_variant(MODIFIER||14831|c.-177T>C|493|DUS2|protein_coding|CODING|NM_001271762.1|1|1),5_prime_UTR_variant(MODIFIER||14831|c.-257T>C|458|DUS2|protein_coding|CODING|NM_001271763.1|1|1),5_prime_UTR_variant(MODIFIER||14831|c.-257T>C|493|DUS2|protein_coding|CODING|NM_017803.4|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,H1ESC:ATF3,HUVEC:H3K9ac,K562:FAIRE,H1ESC:H3K27me3,GM12878:SIX5,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,GM12878:ATF3,HMEC:H3K27ac,CD4:H4K20me1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:ATF3,HepG2:HNF4A,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.9775,0.9539,0.9245,0.95,0.99,0.93,,0.030070(N),1.000(P),4.15(T),0.0000(T),0.042,-0.474531,5.3,-5.55,-4.488000,-1.490000,-1.874000,0.000000,0.000000,0.000000,0.2207
missense_variant,SLC7A6OS,MISSENSE,NM_032178.2:p.Gly45Asp/c.134G>A,gGt/gAt,MODERATE,COSM435576(1),0.668331,0.7728,rs3803650,0.63(T),0.006(B),1.355(L),-0.9950(T),,chr16,68344696,68344696,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly45Asp/c.134G>A|309|SLC7A6OS|protein_coding|CODING|NM_032178.2|1|1),upstream_gene_variant(MODIFIER||181||642|PRMT7|protein_coding|CODING|NM_001184824.1||1),upstream_gene_variant(MODIFIER||181||692|PRMT7|protein_coding|CODING|NM_019023.2||1),upstream_gene_variant(MODIFIER||321||692|PRMT7|protein_coding|CODING|NM_001290018.1||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,K562:H3K36me3,CD4:MOF,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:SIX5,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,HepG2:H3K9ac,CD4:PolII,K562:PU1,HepG2:TAF1,K562:H3K79me2,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:PU1,HepG2:Yy1,CD4:H3K9ac,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,K562:E2F4,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.5358,0.6816,0.5437,0.64,0.74,0.58,,0.475201(N),1.000(P),2.24(T),0.0000(T),0.275,0.840662,5.14,-5.34,-0.124000,-0.806000,-0.287000,0.276000,0.002000,0.184000,7.5123
synonymous_variant,SMPD3,SILENT,NM_018667.3:p.Pro465Pro/c.1395G>A,ccG/ccA,LOW,,0.632388,0.7698,rs1868158,,,,,,chr16,68398924,68398924,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro465Pro/c.1395G>A|655|SMPD3|protein_coding|CODING|NM_018667.3|4|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.5225,0.6671,0.5308,0.60,0.65,0.58,,,,,,,,,,,,,,,,
synonymous_variant,ZFP90,SILENT,NM_133458.2:p.Gln439Gln/c.1317A>G,caA/caG,LOW,,0.528754,0.7659,rs1177648,,,,,,chr16,68598007,68598007,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln439Gln/c.1317A>G|636|ZFP90|protein_coding|CODING|NM_133458.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6421,0.6167,0.5676,0.49,0.26,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CDH3,SILENT,NM_001793.4:p.Ile204Ile/c.612C>A,atC/atA,LOW,COSM3754997(1),0.139776,0.002,rs8049247,,,,,,chr16,68712730,68712730,C,A,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile204Ile/c.612C>A|829|CDH3|protein_coding|CODING|NM_001793.4|6|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0685,0.0865,0.1471,0.19,0.28,0.14,,,,,,,,,,,,,,,,
synonymous_variant,CDH3,SILENT,NM_001793.4:p.Thr240Thr/c.720G>A,acG/acA,LOW,COSM3754999(1),0.607827,0.6141,rs2296409,,,,,,chr16,68713730,68713730,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr240Thr/c.720G>A|829|CDH3|protein_coding|CODING|NM_001793.4|7|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5481,0.5476,0.6223,0.64,0.67,0.62,,,,,,,,,,,,,,,,
synonymous_variant,CDH3,SILENT,NM_001793.4:p.Thr271Thr/c.813C>A,acC/acA,LOW,COSM3755001(2),0.607827,0.6141,rs2296408,,,,,,chr16,68713823,68713823,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr271Thr/c.813C>A|829|CDH3|protein_coding|CODING|NM_001793.4|7|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5481,0.5476,0.6223,0.64,0.67,0.62,,,,,,,,,,,,,,,,
synonymous_variant,CDH3,SILENT,NM_001793.4:p.Asn542Asn/c.1626T>C,aaT/aaC,LOW,COSM3755002(2),0.597444,0.5536,rs2296405,,,,,,chr16,68721470,68721470,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn542Asn/c.1626T>C|829|CDH3|protein_coding|CODING|NM_001793.4|12|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5654,0.5476,0.6173,0.64,0.67,0.62,,,,,,,,,,,,,,,,
synonymous_variant,CDH3,SILENT,NM_001793.4:p.Lys652Lys/c.1956G>A,aaG/aaA,LOW,COSM3755006(2),0.574481,0.4732,rs2274239,,,,,,chr16,68725783,68725783,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys652Lys/c.1956G>A|829|CDH3|protein_coding|CODING|NM_001793.4|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5613,0.5461,0.6153,0.63,0.64,0.62,,,,,,,,,,,,,,,,
synonymous_variant,CDH3,SILENT,NM_001793.4:p.Arg747Arg/c.2239C>A,Cgg/Agg,LOW,COSM3755009(2),0.466853,0.4732,rs17715450,,,,,,chr16,68729785,68729785,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg747Arg/c.2239C>A|829|CDH3|protein_coding|CODING|NM_001793.4|15|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,RCV000079721.1,,0.5562,0.5043,0.5845,0.50,0.32,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CDH1,SILENT,NM_004360.3:p.Ala692Ala/c.2076T>C,gcT/gcC,LOW,COSM3755010(1),0.71865,0.6448,rs1801552,,,,,,chr16,68857441,68857441,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala692Ala/c.2076T>C|882|CDH1|protein_coding|CODING|NM_004360.3|13|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HSMM:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:DNase1,H1ESC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.6687,0.585,0.6451,0.72,0.88,0.63,,,,,,,,,,,,,,,,
synonymous_variant,TANGO6,SILENT,NM_024562.1:p.Ser87Ser/c.261T>C,tcT/tcC,LOW,COSM3755011(1),0.0808706,0.0883,rs4597312,,,,,,chr16,68893953,68893953,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser87Ser/c.261T>C|1094|TANGO6|protein_coding|CODING|NM_024562.1|2|1),"GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0521,0.0663,0.1183,0.11,0.08,0.12,,,,,,,,,,,,,,,,
synonymous_variant,HAS3,SILENT,NM_001199280.1:p.Leu61Leu/c.183T>G,ctT/ctG,LOW,,0.0924521,0.0466,rs2232227,,,,,,chr16,69143481,69143481,T,G,het,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu61Leu/c.183T>G|553|HAS3|protein_coding|CODING|NM_001199280.1|2|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu61Leu/c.183T>G|553|HAS3|protein_coding|CODING|NM_005329.2|2|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu61Leu/c.183T>G|281|HAS3|protein_coding|CODING|NM_138612.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1227,0.0562,0.0616,0.10,0.14,0.07,,,,,,,,,,,,,,,,
synonymous_variant,HAS3,SILENT,NM_001199280.1:p.Ala93Ala/c.279A>G,gcA/gcG,LOW,COSM3755013(1),0.342252,0.5149,rs2232228,,,,,,chr16,69143577,69143577,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala93Ala/c.279A>G|553|HAS3|protein_coding|CODING|NM_001199280.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala93Ala/c.279A>G|553|HAS3|protein_coding|CODING|NM_005329.2|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala93Ala/c.279A>G|281|HAS3|protein_coding|CODING|NM_138612.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3834,0.4337,0.4384,0.33,0.13,0.43,,,,,,,,,,,,,,,,
missense_variant,CIRH1A,MISSENSE,NM_032830.2:p.Val484Gly/c.1451T>G,gTg/gGg,MODERATE,,,,rs199824083,0.38(T),"0.0,0.0(B,B)",0.695(N),-1.0815(T),,chr16,69194265,69194265,T,G,het,missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val484Gly/c.1451T>G|686|CIRH1A|protein_coding|CODING|NM_032830.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.771738(N),0.999(D),"1.68,1.75(T,T)",0.0454(T),0.547,1.459825,5.71,4.61,0.529000,2.180000,0.631000,0.895000,0.997000,0.794000,9.1643
missense_variant,CIRH1A,MISSENSE,NM_032830.2:p.Arg636Cys/c.1906C>T,Cgc/Tgc,MODERATE,,0.0169728,0.0179,rs61185783,0.04(D),0.009(B),0.205(N),-1.1124(T),,chr16,69201050,69201050,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg636Cys/c.1906C>T|686|CIRH1A|protein_coding|CODING|NM_032830.2|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0187,0.0368,0.03,0.01,0.04,,0.018245(N),1.000(D),"1.55,1.0(T,T)",0.0158(T),0.591,3.098804,6.03,6.03,0.655000,2.861000,1.337000,0.989000,1.000000,1.000000,12.9281
synonymous_variant,SNTB2,SILENT,NM_006750.3:p.Pro147Pro/c.441C>G,ccC/ccG,LOW,COSM3749375(7),0.180711,0.0417,rs10650,0(D),,,-1.0351(T),,chr16,69221510,69221510,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro147Pro/c.441C>G|540|SNTB2|protein_coding|CODING|NM_006750.3|1|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1217,0.1671,0.2296,0.23,0.26,0.22,,0.000013(N),0.000(P),1.49(T),0.0000(T),.,2.137905,4.91,2.86,-0.215000,0.564000,0.499000,0.953000,1.000000,0.942000,8.6306
synonymous_variant,VPS4A,SILENT,NM_013245.2:p.Lys287Lys/c.861A>G,aaA/aaG,LOW,COSM3755014(3),0.270966,0.0833,rs1127231,,,,,,chr16,69354963,69354963,A,G,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys287Lys/c.861A>G|437|VPS4A|protein_coding|CODING|NM_013245.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.2147,0.2863,0.34,0.38,0.31,,,,,,,,,,,,,,,,
missense_variant,PDF,MISSENSE,NM_022341.1:p.Trp11Arg/c.31T>C,Tgg/Cgg,MODERATE,COSM3765922(1),0.285343,0.0833,rs8057004,0.86(T),0.0(B),-0.345(N),-1.0133(T),,chr16,69364443,69364443,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp11Arg/c.31T>C|243|PDF|protein_coding|CODING|NM_022341.1|1|1),intron_variant(MODIFIER|||c.*26+273T>C|612|COG8|protein_coding|CODING|NM_032382.4|5|1)","H1ESC:PolII,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,IMR90:H3K36me3,HUVEC:Cmyc,K562:E2F6,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HepG2:HNF4A,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:FOSL2,K562:Yy1,HeLa-S3:Ini1,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.3528,0.2161,0.2843,,,,,0.375264(U),1.000(P),0.83(T),0.0000(T),0.069,1.046331,3.99,-7.98,-3.742000,-1.980000,-4.345000,0.000000,0.000000,0.000000,10.088
synonymous_variant,COG8,SILENT,NM_032382.4:p.Thr14Thr/c.42A>G,acA/acG,LOW,COSM4129245(1),0.257588,0.0833,rs11542583,,,,,,chr16,69373414,69373414,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr14Thr/c.42A>G|612|COG8|protein_coding|CODING|NM_032382.4|1|1),upstream_gene_variant(MODIFIER||1||133|NIP7|protein_coding|CODING|NM_001199434.1||1),upstream_gene_variant(MODIFIER||1||180|NIP7|protein_coding|CODING|NM_016101.4||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,GM12878:ETS1,K562:SP2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,H1ESC:Gabp,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NH-A:CTCF,HepG2:HNF4A,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HUVEC:FAIRE,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:PU1,HepG2:Yy1,K562:SP1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,RCV000082299.1,,0.3548,0.2161,0.2853,0.32,0.34,0.32,,,,,,,,,,,,,,,,
missense_variant,NQO1,MISSENSE,NM_000903.2:p.Pro187Ser/c.559C>T,Cct/Tct,MODERATE,COSM148097(2),0.288938,0.4187,rs1800566,0.11(T),"0.999,0.356,0.167(D,B,B)",2.085(M),-0.9027(T),,chr16,69745145,69745145,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro187Ser/c.559C>T|274|NQO1|protein_coding|CODING|NM_000903.2|6|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro153Ser/c.457C>T|240|NQO1|protein_coding|CODING|NM_001025433.1|5|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro149Ser/c.445C>T|236|NQO1|protein_coding|CODING|NM_001025434.1|5|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro115Ser/c.343C>T|202|NQO1|protein_coding|CODING|NM_001286137.1|4|1)","NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000018300.1|RCV000018301.1|RCV000018302.22,,0.3579,0.3329,0.2107,0.20,0.19,0.20,,0.000000(D),0.000(P),"2.95,3.11,3.11,3.11(T,T,T,T)",0.0000(T),0.871,4.442223,5.41,5.41,0.655000,2.696000,9.220000,0.986000,1.000000,1.000000,18.3313
missense_variant,NOB1,MISSENSE,NM_014062.2:p.Arg231Gln/c.692G>A,cGg/cAg,MODERATE,COSM4129247(1),0.34385,0.2341,rs3811348,,0.002(B),-1.37(N),-0.9677(T),,chr16,69782855,69782855,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg231Gln/c.692G>A|412|NOB1|protein_coding|CODING|NM_014062.2|6|1),non_coding_exon_variant(MODIFIER|||n.619G>A||NOB1||CODING|NR_074074.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4489,0.4899,0.5736,0.44,0.18,0.57,,0.283193(N),1.000(P),1.69(T),0.0000(T),0.041,0.320468,5.33,1.11,0.585000,0.315000,-0.419000,0.285000,0.990000,0.006000,4.6223
synonymous_variant,WWP2,SILENT,NM_001270454.1:p.Lys413Lys/c.1239G>A,aaG/aaA,LOW,COSM4129249(1),0.855032,0.9683,rs1566452,,,,,,chr16,69963355,69963355,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys297Lys/c.891G>A|754|WWP2|protein_coding|CODING|NM_001270453.1|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys413Lys/c.1239G>A|870|WWP2|protein_coding|CODING|NM_001270454.1|12|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys413Lys/c.1239G>A|870|WWP2|protein_coding|CODING|NM_007014.4|13|1),5_prime_UTR_variant(MODIFIER||679|c.-79G>A|431|WWP2|protein_coding|CODING|NM_199424.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7955,0.7493,0.7535,0.79,0.89,0.74,,,,,,,,,,,,,,,,
synonymous_variant,WWP2,SILENT,NM_001270454.1:p.His569His/c.1707T>C,caT/caC,LOW,COSM435641(1),0.854633,0.9683,rs2270841,,,,,,chr16,69967897,69967897,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His453His/c.1359T>C|754|WWP2|protein_coding|CODING|NM_001270453.1|14|1),synonymous_variant(LOW|SILENT|caT/caC|p.His569His/c.1707T>C|870|WWP2|protein_coding|CODING|NM_001270454.1|17|1),synonymous_variant(LOW|SILENT|caT/caC|p.His569His/c.1707T>C|870|WWP2|protein_coding|CODING|NM_007014.4|18|1),synonymous_variant(LOW|SILENT|caT/caC|p.His130His/c.390T>C|431|WWP2|protein_coding|CODING|NM_199424.2|7|1),downstream_gene_variant(MODIFIER||814|||MIR140||NON_CODING|NR_029681.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7914,0.7507,0.7525,0.79,0.90,0.74,,,,,,,,,,,,,,,,
synonymous_variant,WWP2,SILENT,NM_001270454.1:p.Thr697Thr/c.2091A>G,acA/acG,LOW,COSM435643(2),0.845447,0.9663,rs1983016,,,,,,chr16,69970329,69970329,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr581Thr/c.1743A>G|754|WWP2|protein_coding|CODING|NM_001270453.1|16|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr697Thr/c.2091A>G|870|WWP2|protein_coding|CODING|NM_001270454.1|19|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr697Thr/c.2091A>G|870|WWP2|protein_coding|CODING|NM_007014.4|20|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr258Thr/c.774A>G|431|WWP2|protein_coding|CODING|NM_199424.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7975,0.7565,0.7515,0.78,0.86,0.74,,,,,,,,,,,,,,,,
missense_variant,PDPR,MISSENSE,NM_017990.3:p.Ile206Val/c.616A>G,Atc/Gtc,MODERATE,COSM148098(4),,,rs10852462,0.37(T),0.074(B),0.12(N),-1.0420(T),,chr16,70164334,70164334,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile206Val/c.616A>G|879|PDPR|protein_coding|CODING|NM_017990.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"-1.51,-1.51(D,D)",0.0000(T),0.122,1.706647,4.93,4.93,0.455000,1.843000,5.916000,0.980000,1.000000,1.000000,8.4788
synonymous_variant,PDPR,SILENT,NM_017990.3:p.Ser657Ser/c.1971T>C,agT/agC,LOW,COSM3999905(2),,,rs62050977,,,,,,chr16,70182375,70182375,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser657Ser/c.1971T>C|879|PDPR|protein_coding|CODING|NM_017990.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PDPR,MISSENSE,NM_017990.3:p.Asn662Lys/c.1986T>G,aaT/aaG,MODERATE,COSM3742010(4),,,rs62050978,0.34(T),0.021(B),1.59(L),-0.4972(T),,chr16,70182390,70182390,T,G,het,missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn662Lys/c.1986T>G|879|PDPR|protein_coding|CODING|NM_017990.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"-0.38,-0.31,-2.84(T,T,D)",0.5551(D),0.392,2.518492,5.15,-1.15,-0.451000,-0.552000,-1.180000,0.987000,0.763000,0.005000,11.2784
synonymous_variant,PDPR,SILENT,NM_017990.3:p.Asp753Asp/c.2259C>T,gaC/gaT,LOW,COSM3999906(2),,,rs6499302,,,,,,chr16,70190401,70190401,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp753Asp/c.2259C>T|879|PDPR|protein_coding|CODING|NM_017990.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.40,0.36,0.42,,,,,,,,,,,,,,,,
synonymous_variant,CLEC18C,SILENT,NM_173619.2:p.Val121Val/c.363T>C,gtT/gtC,LOW,COSM4129263(1),,,rs2549610,0.51(T),,,-0.9988(T),,chr16,70211290,70211290,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val121Val/c.363T>C|446|CLEC18C|protein_coding|CODING|NM_173619.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),,0.0424(T),.,-0.955602,4.32,-6.76,-1.964000,-1.357000,-3.765000,0.040000,0.001000,0.000000,7.0439
missense_variant,CLEC18C,MISSENSE,NM_173619.2:p.Thr148Ser/c.443C>G,aCc/aGc,MODERATE,COSM288429(2),,,rs144090331,0.08(T),0.008(B),0.845(L),-0.9964(T),,chr16,70211370,70211370,C,G,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr148Ser/c.443C>G|446|CLEC18C|protein_coding|CODING|NM_173619.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.109248(N),1.000(N),"3.17,3.17,3.17(T,T,T)",0.0167(T),0.113,0.389845,4.32,2.09,0.298000,0.903000,1.141000,0.135000,1.000000,0.141000,10.1296
synonymous_variant,CLEC18C,SILENT,NM_173619.2:p.Thr151Thr/c.453G>A,acG/acA,LOW,COSM3679982(1),,,rs200721332,,,,,,chr16,70211380,70211380,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr151Thr/c.453G>A|446|CLEC18C|protein_coding|CODING|NM_173619.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,AARS,SILENT,NM_001605.2:p.Val905Val/c.2715T>C,gtT/gtC,LOW,COSM435653(2),0.88119,0.9663,rs4081753,,,,,,chr16,70287177,70287177,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val905Val/c.2715T>C|968|AARS|protein_coding|CODING|NM_001605.2|20|1),upstream_gene_variant(MODIFIER||1344||272|EXOSC6|protein_coding|CODING|NM_058219.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8057,0.7795,0.7972,0.85,0.96,0.79,,,,,,,,,,,,,,,,
synonymous_variant,AARS,SILENT,NM_001605.2:p.His301His/c.903C>T,caC/caT,LOW,,0.425319,0.4256,rs2070203,,,,,,chr16,70303580,70303580,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His301His/c.903C>T|968|AARS|protein_coding|CODING|NM_001605.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.4078,0.5338,0.49,0.47,0.50,,,,,,,,,,,,,,,,
synonymous_variant,DDX19A,SILENT,NM_018332.3:p.Asn120Asn/c.360C>T,aaC/aaT,LOW,COSM3755019(1),0.225639,0.3036,rs1134074,,,,,,chr16,70395387,70395387,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn120Asn/c.360C>T|478|DDX19A|protein_coding|CODING|NM_018332.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1738,0.3184,0.3996,0.28,0.08,0.38,,,,,,,,,,,,,,,,
synonymous_variant,FUK,SILENT,NM_145059.2:p.Pro476Pro/c.1428T>C,ccT/ccC,LOW,COSM1128894(3),0.578075,0.6607,rs386608257,,,,,,chr16,70506907,70506907,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro476Pro/c.1428T>C|1084|FUK|protein_coding|CODING|NM_145059.2|15|1),"HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3006,0.5764,0.498,0.57,0.75,0.49,,,,,,,,,,,,,,,,
synonymous_variant,COG4,SILENT,NM_015386.2:p.Ser714Ser/c.2142G>A,tcG/tcA,LOW,COSM4129270(1),0.373802,0.2222,rs11054,,,,,,chr16,70515355,70515355,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser693Ser/c.2079G>A|768|COG4|protein_coding|CODING|NM_001195139.1|17|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser714Ser/c.2142G>A|789|COG4|protein_coding|CODING|NM_015386.2|18|1),downstream_gene_variant(MODIFIER||1178||1084|FUK|protein_coding|CODING|NM_145059.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116788.2,,0.2423,0.3847,0.4692,0.48,0.52,0.47,,,,,,,,,,,,,,,,
missense_variant,COG4,MISSENSE,NM_015386.2:p.Thr162Ile/c.485C>T,aCt/aTt,MODERATE,,0.959465,1,rs3931036,1(T),0.0(B),-2.305(N),-0.9483(T),,chr16,70548297,70548297,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr162Ile/c.485C>T|768|COG4|protein_coding|CODING|NM_001195139.1|4|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr162Ile/c.485C>T|789|COG4|protein_coding|CODING|NM_015386.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000081731.3,,0.9673,0.8573,0.9314,0.96,0.99,0.94,,0.000000(N),0.998(P),"0.97,0.97,0.97(T,T,T)",0.0000(T),0.481,0.807253,5.51,5.51,-0.361000,0.929000,6.976000,0.891000,1.000000,1.000000,11.5088
synonymous_variant,VAC14,SILENT,NM_018052.3:p.Pro705Pro/c.2115G>T,ccG/ccT,LOW,COSM3755023(1),0.242812,0.1657,rs2278983,,,,,,chr16,70726795,70726795,C,A,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro705Pro/c.2115G>T|782|VAC14|protein_coding|CODING|NM_018052.3|18|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:DNase1,IMR90:H3K4ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.2894,0.3401,0.4901,0.34,0.09,0.47,,,,,,,,,,,,,,,,
missense_variant,HYDIN,MISSENSE,NM_001270974.1:p.Glu2306Gly/c.6917A>G,gAa/gGa,MODERATE,COSM3818433(1),0.453874,0.4365,rs2502726,0.01(D),0.998(D),1.1(L),-1.1854(T),,chr16,70972595,70972595,T,C,het,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu2306Gly/c.6917A>G|5121|HYDIN|protein_coding|CODING|NM_001270974.1|44|1),"GM06990:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5051,0.4597,0.7445,,,,,0.005343(U),0.000(P),4.58(T),0.0000(T),0.623,4.886630,5.6,5.6,0.491000,2.148000,6.226000,0.958000,0.998000,1.000000,15.4913
missense_variant,HYDIN,MISSENSE,NM_001270974.1:p.Pro1492His/c.4475C>A,cCc/cAc,MODERATE,COSM1318561(3),0.467252,0.5645,rs112779887,0.09(T),0.999(D),2.485(M),-0.9287(T),,chr16,71015329,71015329,G,T,hom,missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro1492His/c.4475C>A|5121|HYDIN|protein_coding|CODING|NM_001270974.1|29|1),"GM06990:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4744,0.5591,0.328,,,,,0.005376(U),0.000(P),5.15(T),0.0000(T),0.779,4.480970,4.26,4.26,0.603000,2.083000,9.105000,0.977000,1.000000,1.000000,16.6224
missense_variant,CMTR2,MISSENSE,NM_001099642.1:p.Thr608Lys/c.1823C>A,aCa/aAa,MODERATE,COSM3755033(1),0.113019,0.0288,rs3096381,0.12(T),0.014(B),0.55(N),-0.9848(T),,chr16,71318001,71318001,G,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr608Lys/c.1823C>A|770|CMTR2|protein_coding|CODING|NM_001099642.1|3|1),missense_variant(MODERATE|MISSENSE|aCa/aAa|p.Thr608Lys/c.1823C>A|770|CMTR2|protein_coding|CODING|NM_018348.5|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.1354,0.1879,0.14,0.08,0.17,,0.181921(N),1.000(P),"2.56,2.56(T,T)",0.0001(T),0.054,-0.509532,6.04,2.66,-0.367000,0.204000,1.210000,0.220000,0.080000,0.506000,8.4422
missense_variant,CMTR2,MISSENSE,NM_001099642.1:p.Asn416Ser/c.1247A>G,aAt/aGt,MODERATE,COSM435711(4),0.277955,0.2103,rs3803704,0.64(T),0.002(B),1.445(L),-0.9201(T),,chr16,71318577,71318577,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn416Ser/c.1247A>G|770|CMTR2|protein_coding|CODING|NM_001099642.1|3|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn416Ser/c.1247A>G|770|CMTR2|protein_coding|CODING|NM_018348.5|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.226,0.4784,0.2485,0.25,0.26,0.25,,0.002739(N),0.643(P),"2.6,2.6(T,T)",0.0000(T),0.003,-0.720809,5.95,2.53,0.402000,0.503000,0.147000,0.989000,1.000000,0.994000,8.9128
synonymous_variant,CMTR2,SILENT,NM_001099642.1:p.Ala95Ala/c.285G>A,gcG/gcA,LOW,COSM3999908(1),0.462061,0.245,rs3826247,,,,,,chr16,71319539,71319539,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala95Ala/c.285G>A|770|CMTR2|protein_coding|CODING|NM_001099642.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala95Ala/c.285G>A|770|CMTR2|protein_coding|CODING|NM_018348.5|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4468,0.6628,0.675,0.57,0.40,0.65,,,,,,,,,,,,,,,,
missense_variant,CMTR2,MISSENSE,NM_001099642.1:p.Leu60Phe/c.178C>T,Ctt/Ttt,MODERATE,,0.926318,0.8284,rs3096380,1(T),0.0(B),-1.005(N),-0.9662(T),,chr16,71319646,71319646,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu60Phe/c.178C>T|770|CMTR2|protein_coding|CODING|NM_001099642.1|3|1),missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu60Phe/c.178C>T|770|CMTR2|protein_coding|CODING|NM_018348.5|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9006,0.9652,0.96,0.96,0.96,,0.000365(N),1.000(P),"2.43,2.43(T,T)",0.0000(T),0.179,-1.361380,5.7,4.6,-0.254000,0.438000,1.944000,0.964000,0.543000,1.000000,7.9779
missense_variant,ZNF23,MISSENSE,NM_145911.1:p.Ser28Gly/c.82A>G,Agt/Ggt,MODERATE,COSM148109(2),0.666534,0.2887,rs2070832,0.32(T),"0.0,0.0(B,B)",-0.125(N),-1.0319(T),,chr16,71487206,71487206,T,C,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser28Gly/c.82A>G|643|ZNF23|protein_coding|CODING|NM_145911.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7014,0.5346,0.6978,0.77,0.93,0.69,,0.612574(N),0.000(P),"1.63,1.63,1.63(T,T,T)",0.0000(T),0.032,0.701872,4.75,0.548,-0.898000,0.035000,0.120000,0.357000,0.985000,0.000000,8.8389
synonymous_variant,ZNF19,SILENT,NM_006961.3:p.Thr255Thr/c.765G>C,acG/acC,LOW,,0.785543,0.6042,rs2288489,,,,,,chr16,71509685,71509685,C,G,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr255Thr/c.765G>C|458|ZNF19|protein_coding|CODING|NM_006961.3|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8497,0.6686,0.8181,0.85,0.88,0.83,,,,,,,,,,,,,,,,
missense_variant,ZNF19,MISSENSE,NM_006961.3:p.Gln218His/c.654G>C,caG/caC,MODERATE,,0.653954,0.6012,rs8050871,0.02(D),0.754(P),1.76(L),-0.9318(T),,chr16,71509796,71509796,C,G,hom,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln218His/c.654G>C|458|ZNF19|protein_coding|CODING|NM_006961.3|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H2BK12ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.817,0.585,0.674,0.66,0.59,0.69,,0.047196(N),0.000(P),2.15(T),0.0000(T),0.024,2.592560,3.49,-2.11,-0.127000,-0.382000,-2.771000,0.896000,0.500000,0.000000,0.2239
missense_variant,MARVELD3,MISSENSE,NM_001017967.3:p.Glu60Lys/c.178G>A,Gag/Aag,MODERATE,COSM3755040(1),0.413738,0.7421,rs4788821,0.48(T),"0.017,0.017(B,B)",1.04(L),-0.9381(T),,chr16,71660310,71660310,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu60Lys/c.178G>A|148|MARVELD3|protein_coding|CODING|NM_001271329.1|1|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu60Lys/c.178G>A|410|MARVELD3|protein_coding|CODING|NM_001017967.3|1|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu60Lys/c.178G>A|401|MARVELD3|protein_coding|CODING|NM_052858.5|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,H1ESC:H4K5ac,GM12878:ZEB1,K562:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.317,0.5231,0.325,0.27,0.23,0.30,,0.008678(U),0.000(P),"0.46,0.46(T,T)",0.0000(T),0.082,2.104181,2.15,1.17,0.298000,0.129000,1.980000,0.013000,0.002000,0.017000,6.0428
missense_variant,MARVELD3,MISSENSE,NM_001017967.3:p.Arg91Gln/c.272G>A,cGg/cAg,MODERATE,COSM3755041(1),0.191294,0.0665,rs61753635,1(T),"0.001,0.001,0.001(B,B,B)",-1.1(N),-1.0100(T),,chr16,71660404,71660404,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg91Gln/c.272G>A|148|MARVELD3|protein_coding|CODING|NM_001271329.1|1|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg91Gln/c.272G>A|410|MARVELD3|protein_coding|CODING|NM_001017967.3|1|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg91Gln/c.272G>A|401|MARVELD3|protein_coding|CODING|NM_052858.5|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,H1ESC:H4K5ac,K562:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3",,,,0.1718,0.1758,0.3002,0.25,0.22,0.26,,0.646785(N),0.786(P),"1.04,1.04(T,T)",0.0000(T),0.028,2.538478,3.96,-4.97,-0.516000,-0.568000,-1.014000,0.153000,0.028000,0.000000,0.9839
synonymous_variant,MARVELD3,SILENT,NM_052858.5:p.Ala378Ala/c.1134T>G,gcT/gcG,LOW,,,,rs12932850,,,,,,chr16,71668634,71668634,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala378Ala/c.1134T>G|401|MARVELD3|protein_coding|CODING|NM_052858.5|3|1),intron_variant(MODIFIER|||c.595+5237T>G|410|MARVELD3|protein_coding|CODING|NM_001017967.3|2|1),intron_variant(MODIFIER|||c.432+5237T>G|148|MARVELD3|protein_coding|CODING|NM_001271329.1|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,0.31,0.27,0.34,,,,,,,,,,,,,,,,
synonymous_variant,MARVELD3,SILENT,NM_001017967.3:p.Pro395Pro/c.1185C>G,ccC/ccG,LOW,,0.403554,0.6835,rs2303225,0.11(T),,,-0.9307(T),,chr16,71674882,71674882,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro395Pro/c.1185C>G|410|MARVELD3|protein_coding|CODING|NM_001017967.3|3|1),3_prime_UTR_variant(MODIFIER||575|c.*575C>G|148|MARVELD3|protein_coding|CODING|NM_001271329.1|3|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3088,0.5274,0.325,0.31,0.27,0.33,,,1.000(P),,0.0000(T),.,2.270000,5.67,1.4,0.655000,0.041000,0.022000,0.004000,0.000000,0.000000,9.1148
missense_variant,ATXN1L,MISSENSE,NM_001137675.3:p.Ser594Gly/c.1780A>G,Agc/Ggc,MODERATE,,0.169329,0.2927,rs61747555,0.4(T),0.001(B),-0.14(N),-0.9532(T),,chr16,71885423,71885423,A,G,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser594Gly/c.1780A>G|689|ATXN1L|protein_coding|CODING|NM_001137675.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.2219,0.1889,0.15,0.03,0.20,,,0.222(P),1.43(T),0.0000(T),0.01,0.832987,5.61,3.01,0.454000,1.040000,3.465000,0.998000,1.000000,1.000000,9.8813
missense_variant,IST1,MISSENSE,NM_001270976.1:p.Glu320Ala/c.959A>C,gAa/gCa,MODERATE,,0.00638978,0,rs79258602,1(T),"0.001,0.002,0.001(B,B,B)",,-0.8019(T),,chr16,71961535,71961535,A,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu307Ala/c.920A>C|366|IST1|protein_coding|CODING|NM_001270975.1|10|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu320Ala/c.959A>C|379|IST1|protein_coding|CODING|NM_001270976.1|11|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu276Ala/c.827A>C|335|IST1|protein_coding|CODING|NM_001270977.1|9|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu159Ala/c.476A>C|218|IST1|protein_coding|CODING|NM_001270978.1|7|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu159Ala/c.476A>C|218|IST1|protein_coding|CODING|NM_001270979.1|6|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys306Gln/c.916A>C|360|IST1|protein_coding|CODING|NM_014761.3|10|1),downstream_gene_variant(MODIFIER||1906||1730|PKD1L3|protein_coding|CODING|NM_181536.1||1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Jund,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:FAIRE,HepG2:H3K36me3,HeLa-S3:Cfos,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.0061,0.0058,0.0219,0.02,0.00,0.03,,0.000283(D),0.999(D),,0.1158(T),0.425,2.296495,5.44,5.44,0.528000,2.190000,2.324000,0.979000,1.000000,0.981000,13.5313
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Val1571Ile/c.4711G>A,Gtc/Atc,MODERATE,,0.126997,0.0476,rs17358402,,,,,,chr16,71967927,71967927,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1571Ile/c.4711G>A|1730|PKD1L3|protein_coding|CODING|NM_181536.1|27|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.1626,0.134,0.2704,0.22,0.10,0.27,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Ser1176Arg/c.3528C>G,agC/agG,MODERATE,,0.39397,0.6597,rs1035543,,,,,,chr16,71983772,71983772,G,C,het,missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser1176Arg/c.3528C>G|1730|PKD1L3|protein_coding|CODING|NM_181536.1|21|1|WARNING_TRANSCRIPT_INCOMPLETE),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2935,0.5259,0.3211,0.31,0.26,0.33,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L3,SILENT,NM_181536.1:p.His952His/c.2856T>C,caT/caC,LOW,,0.842053,0.9762,rs7204708,,,,,,chr16,71986946,71986946,A,G,het,synonymous_variant(LOW|SILENT|caT/caC|p.His952His/c.2856T>C|1730|PKD1L3|protein_coding|CODING|NM_181536.1|18|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.817,0.7316,0.76,0.80,0.74,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Val903Ile/c.2707G>A,Gtc/Atc,MODERATE,,0.787141,0.9752,rs9921412,,,,,,chr16,71988106,71988106,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val903Ile/c.2707G>A|1730|PKD1L3|protein_coding|CODING|NM_181536.1|17|1|WARNING_TRANSCRIPT_INCOMPLETE),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.8834,0.8012,0.7306,0.70,0.60,0.74,,,,,,,,,,,,,,,,
stop_gained,PKD1L3,NONSENSE,NM_181536.1:p.Arg789*/c.2365C>T,Cga/Tga,HIGH,COSM1379658(1),0.263379,0.4058,rs4788587,,,,,PKD1L3:1.00(1);PKD1L3:1.00(1);,chr16,72001136,72001136,G,A,het,stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg789*/c.2365C>T|1730|PKD1L3|protein_coding|CODING|NM_181536.1|15|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.2658,0.2305,0.174,0.21,0.22,0.20,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Val593Met/c.1777G>A,Gtg/Atg,MODERATE,,0.514377,0.4504,rs9925415,,,,,,chr16,72007399,72007399,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val593Met/c.1777G>A|1730|PKD1L3|protein_coding|CODING|NM_181536.1|12|1|WARNING_TRANSCRIPT_INCOMPLETE),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4213,0.415,0.5109,0.58,0.69,0.53,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.His571Gln/c.1713C>A,caC/caA,MODERATE,COSM973416(1),0.755192,0.746,rs1559401,,,,,,chr16,72011181,72011181,G,T,het,missense_variant(MODERATE|MISSENSE|caC/caA|p.His571Gln/c.1713C>A|1730|PKD1L3|protein_coding|CODING|NM_181536.1|11|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,K562:H3K27me3",,,,0.8773,0.6052,0.7783,0.77,0.75,0.78,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L3,SILENT,NM_181536.1:p.Pro567Pro/c.1701T>G,ccT/ccG,LOW,COSM973417(2),0.755192,0.746,rs1559400,,,,,,chr16,72011193,72011193,A,C,het,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro567Pro/c.1701T>G|1730|PKD1L3|protein_coding|CODING|NM_181536.1|11|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,K562:H3K27me3",,,,0.8773,0.6052,0.7783,0.77,0.75,0.78,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L3,SILENT,NM_181536.1:p.Leu545Leu/c.1633T>C,Ttg/Ctg,LOW,COSM973419(1),0.776158,0.746,rs1559399,,,,,,chr16,72011261,72011261,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu545Leu/c.1633T>C|1730|PKD1L3|protein_coding|CODING|NM_181536.1|11|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,K562:H3K27me3",,,,0.8773,0.6138,0.7793,0.79,0.81,0.78,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Arg496His/c.1487G>A,cGt/cAt,MODERATE,,,,,,,,,,chr16,72012194,72012194,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg496His/c.1487G>A|1730|PKD1L3|protein_coding|CODING|NM_181536.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,K562:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Thr429Ser/c.1286C>G,aCt/aGt,MODERATE,,0.755192,0.746,rs7185272,,,,,,chr16,72013797,72013797,G,C,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr429Ser/c.1286C>G|1730|PKD1L3|protein_coding|CODING|NM_181536.1|9|1|WARNING_TRANSCRIPT_INCOMPLETE),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:FOXA1",,,,0.8773,0.6052,0.7783,0.77,0.75,0.78,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Lys274Glu/c.820A>G,Aag/Gag,MODERATE,COSM3999912(1),0.513179,0.4534,rs12708923,,,,,,chr16,72020134,72020134,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys274Glu/c.820A>G|1730|PKD1L3|protein_coding|CODING|NM_181536.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4264,0.4107,0.508,0.57,0.68,0.52,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L3,SILENT,NM_181536.1:p.Ala220Ala/c.660C>T,gcC/gcT,LOW,,0.757388,0.746,rs4788590,,,,,,chr16,72020294,72020294,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala220Ala/c.660C>T|1730|PKD1L3|protein_coding|CODING|NM_181536.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8773,0.6066,0.7773,0.78,0.77,0.78,,,,,,,,,,,,,,,,
missense_variant,PKD1L3,MISSENSE,NM_181536.1:p.Ser211Pro/c.631T>C,Tca/Cca,MODERATE,,0.775359,0.746,rs4788591,,,,,,chr16,72020323,72020323,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser211Pro/c.631T>C|1730|PKD1L3|protein_coding|CODING|NM_181536.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8773,0.6138,0.7783,0.79,0.81,0.78,,,,,,,,,,,,,,,,
missense_variant,HPR,MISSENSE,NM_020995.3:p.His339Asp/c.1015C>G,Cac/Gac,MODERATE,COSM85673(1),,,rs12646,1(T),0.0(B),-2.76(N),-0.9489(T),,chr16,72110948,72110948,C,G,het,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His339Asp/c.1015C>G|348|HPR|protein_coding|CODING|NM_020995.3|5|1),"NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.29,0.29,0.30,,0.008477(N),0.000(P),"-2.73,-2.73,-2.73(D,D,D)",0.0000(T),0.157,-2.720080,2.64,2.64,-0.477000,0.437000,3.354000,0.019000,0.478000,1.000000,10.297
synonymous_variant,DHX38,SILENT,NM_014003.3:p.Leu49Leu/c.147C>G,ctC/ctG,LOW,COSM148114(1),0.513179,0.3542,rs1050361,,,,,,chr16,72130203,72130203,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu49Leu/c.147C>G|1227|DHX38|protein_coding|CODING|NM_014003.3|2|1),upstream_gene_variant(MODIFIER||1988||149|TXNL4B|protein_coding|CODING|NM_001142318.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.3588,0.3986,0.53,0.73,0.43,,,,,,,,,,,,,,,,
synonymous_variant,DHX38,SILENT,NM_014003.3:p.Arg140Arg/c.418C>A,Cgg/Agg,LOW,COSM3999920(1),0.478235,0.3105,rs1050362,,,,,,chr16,72130815,72130815,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg140Arg/c.418C>A|1227|DHX38|protein_coding|CODING|NM_014003.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4755,0.3156,0.3549,0.48,0.69,0.37,,,,,,,,,,,,,,,,
synonymous_variant,DHX38,SILENT,NM_014003.3:p.Ala436Ala/c.1308T>C,gcT/gcC,LOW,COSM148115(1),0.557907,0.3591,rs1050363,,,,,,chr16,72135014,72135014,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala436Ala/c.1308T>C|1227|DHX38|protein_coding|CODING|NM_014003.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5787,0.3963,0.5,0.61,0.75,0.53,,,,,,,,,,,,,,,,
synonymous_variant,DHX38,SILENT,NM_014003.3:p.Thr566Thr/c.1698G>A,acG/acA,LOW,,0.472843,0.3105,rs2240243,,,,,,chr16,72137561,72137561,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr566Thr/c.1698G>A|1227|DHX38|protein_coding|CODING|NM_014003.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4622,0.3112,0.3519,0.48,0.69,0.37,,,,,,,,,,,,,,,,
synonymous_variant,DHX38,SILENT,NM_014003.3:p.Ala772Ala/c.2316C>A,gcC/gcA,LOW,COSM1128887(2),0.476238,0.3085,rs2074626,,,,,,chr16,72139184,72139184,C,A,het,synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala772Ala/c.2316C>A|1227|DHX38|protein_coding|CODING|NM_014003.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4765,0.3156,0.3559,0.48,0.69,0.37,,,,,,,,,,,,,,,,
missense_variant,PMFBP1,MISSENSE,NM_031293.2:p.Lys913Asn/c.2739A>C,aaA/aaC,MODERATE,COSM3755053(2),0.481629,0.3413,rs16973716,0.06(T),"0.996,0.948,0.994(D,D,D)",2.08(M),-0.8860(T),,chr16,72156842,72156842,T,G,het,"missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys768Asn/c.2304A>C|882|PMFBP1|protein_coding|CODING|NM_001160213.1|20|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys913Asn/c.2739A>C|1007|PMFBP1|protein_coding|CODING|NM_031293.2|19|1)",HepG2:H3K36me3,,,,0.6247,0.3112,0.4105,0.47,0.55,0.42,,0.000097(D),0.447(P),"0.33,2.27,2.3,2.11(T,T,T,T)",0.0000(T),0.13,3.456390,4.87,3.78,0.477000,0.893000,1.490000,0.857000,1.000000,1.000000,7.1271
missense_variant,ZFHX3,MISSENSE,NM_006885.3:p.Gly3128Arg/c.9382G>C,Ggc/Cgc,MODERATE,,,,,0.01(D),0.788(P),1.24(L),-0.1556(T),,chr16,72827199,72827199,C,G,het,"missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly2214Arg/c.6640G>C|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|8|1),missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly3128Arg/c.9382G>C|3703|ZFHX3|protein_coding|CODING|NM_006885.3|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000098(D),1.000(D),"-1.03,-0.99(T,T)",0.4400(T),0.615,1.145686,5.84,3.89,0.655000,0.815000,3.338000,0.977000,0.712000,0.996000,12.7802
synonymous_variant,ZFHX3,SILENT,NM_006885.3:p.Gly2941Gly/c.8823A>G,ggA/ggG,LOW,,0.920727,0.998,rs386606454,,,,,,chr16,72827758,72827758,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly2027Gly/c.6081A>G|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|8|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly2941Gly/c.8823A>G|3703|ZFHX3|protein_coding|CODING|NM_006885.3|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8681,0.8746,0.833,0.88,0.97,0.84,,,,,,,,,,,,,,,,
synonymous_variant,ZFHX3,SILENT,NM_006885.3:p.Ala1482Ala/c.4446A>T,gcA/gcT,LOW,,0.886182,0.9603,rs740178,,,,,,chr16,72832135,72832135,T,A,hom,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala568Ala/c.1704A>T|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|8|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala1482Ala/c.4446A>T|3703|ZFHX3|protein_coding|CODING|NM_006885.3|9|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7975,0.8343,0.7952,0.85,0.96,0.80,,,,,,,,,,,,,,,,
synonymous_variant,ZFHX3,SILENT,NM_006885.3:p.Pro795Pro/c.2385G>C,ccG/ccC,LOW,COSM3999922(3),0.770966,0.6865,rs10852515,,,,,,chr16,72991660,72991660,C,G,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro795Pro/c.2385G>C|3703|ZFHX3|protein_coding|CODING|NM_006885.3|2|1),intron_variant(MODIFIER|||c.-23-6796G>C|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6912,0.8991,0.8708,0.84,0.79,0.86,,,,,,,,,,,,,,,,
missense_variant,ZFHX3,MISSENSE,NM_006885.3:p.Val777Ala/c.2330T>C,gTg/gCg,MODERATE,,0.765575,0.6855,rs4788682,0.67(T),0.0(B),0(N),-0.9743(T),,chr16,72991715,72991715,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val777Ala/c.2330T>C|3703|ZFHX3|protein_coding|CODING|NM_006885.3|2|1),intron_variant(MODIFIER|||c.-23-6851T>C|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6943,0.8862,0.8559,0.82,0.77,0.85,,0.002526(N),0.000(P),-0.67(T),0.0000(T),0.056,-0.587199,5.49,4.54,-0.215000,0.709000,5.328000,0.024000,0.004000,1.000000,12.3576
synonymous_variant,ZFHX3,SILENT,NM_006885.3:p.Ser608Ser/c.1824C>T,agC/agT,LOW,,0.0830671,0,rs61735550,,,,,,chr16,72992221,72992221,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser608Ser/c.1824C>T|3703|ZFHX3|protein_coding|CODING|NM_006885.3|2|1),intron_variant(MODIFIER|||c.-23-7357C>T|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0951,0.098,0.2306,0.18,0.05,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ZFHX3,SILENT,NM_006885.3:p.Asp592Asp/c.1776C>T,gaC/gaT,LOW,,0.0255591,0,rs11075951,,,,,,chr16,72992269,72992269,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp592Asp/c.1776C>T|3703|ZFHX3|protein_coding|CODING|NM_006885.3|2|1),intron_variant(MODIFIER|||c.-23-7405C>T|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0476,0.0795,0.07,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,ZFHX3,MISSENSE,NM_006885.3:p.Ser72Ala/c.214T>G,Tcc/Gcc,MODERATE,COSM1563502(3),0.470447,0.2599,rs7193297,1(T),0.004(B),-0.205(N),-0.9634(T),,chr16,72993831,72993831,A,C,het,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser72Ala/c.214T>G|3703|ZFHX3|protein_coding|CODING|NM_006885.3|2|1),intron_variant(MODIFIER|||c.-23-8967T>G|2789|ZFHX3|protein_coding|CODING|NM_001164766.1|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4775,0.3127,0.3946,0.47,0.68,0.37,,0.000135(N),0.000(P),-0.66(T),0.0000(T),0.009,0.235641,5.11,5.11,-0.358000,1.168000,0.375000,0.194000,0.980000,0.038000,13.1969
synonymous_variant,GLG1,SILENT,NM_012201.5:p.Cys884Cys/c.2652C>T,tgC/tgT,LOW,COSM3755068(1),0.111821,0.1548,rs2303275,,,,,,chr16,74499589,74499589,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys873Cys/c.2619C>T|1192|GLG1|protein_coding|CODING|NM_001145666.1|18|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys884Cys/c.2652C>T|1179|GLG1|protein_coding|CODING|NM_001145667.1|19|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys884Cys/c.2652C>T|1203|GLG1|protein_coding|CODING|NM_012201.5|19|1),non_coding_exon_variant(MODIFIER|||n.2811C>T||GLG1||CODING|NR_027264.1|20|1),non_coding_exon_variant(MODIFIER|||n.1699C>T||GLG1||CODING|NR_027265.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0798,0.1643,0.1382,0.11,0.07,0.13,,,,,,,,,,,,,,,,
synonymous_variant,FA2H,SILENT,NM_024306.4:p.Pro293Pro/c.879C>T,ccC/ccT,LOW,,0.72524,0.6478,rs2301865,,,,,,chr16,74750405,74750405,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro293Pro/c.879C>T|372|FA2H|protein_coding|CODING|NM_024306.4|6|1),"K562:CTCF,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,RCV000117012.1,,0.6646,0.7954,0.8171,0.78,0.73,0.81,,,,,,,,,,,,,,,,
missense_variant,CTRB2,MISSENSE,NM_001025200.3:p.Ala250Thr/c.748G>A,Gcc/Acc,MODERATE,,0.828874,0.998,rs4737,1(T),0.001(B),0.5(N),-0.9058(T),,chr16,75238103,75238103,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala250Thr/c.748G>A|263|CTRB2|protein_coding|CODING|NM_001025200.3|7|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9182,0.8862,0.829,0.75,0.63,0.82,,0.000001(N),1.000(P),-3.15(D),0.0000(T),0.054,-0.815252,4.09,4.09,-0.665000,0.573000,2.536000,0.117000,0.570000,1.000000,5.0269
synonymous_variant,BCAR1,SILENT,NM_001170714.1:p.Ala556Ala/c.1668T>C,gcT/gcC,LOW,COSM3755077(3),0.926318,0.996,rs3169330,,,,,,chr16,75269267,75269267,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala556Ala/c.1668T>C|916|BCAR1|protein_coding|CODING|NM_001170714.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala528Ala/c.1584T>C|888|BCAR1|protein_coding|CODING|NM_001170715.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala528Ala/c.1584T>C|888|BCAR1|protein_coding|CODING|NM_001170716.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala528Ala/c.1584T>C|888|BCAR1|protein_coding|CODING|NM_001170717.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala510Ala/c.1530T>C|870|BCAR1|protein_coding|CODING|NM_001170718.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala508Ala/c.1524T>C|868|BCAR1|protein_coding|CODING|NM_001170719.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala362Ala/c.1086T>C|722|BCAR1|protein_coding|CODING|NM_001170720.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala300Ala/c.900T>C|660|BCAR1|protein_coding|CODING|NM_001170721.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala510Ala/c.1530T>C|870|BCAR1|protein_coding|CODING|NM_014567.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9356,0.915,0.83,0.85,0.90,0.82,,,,,,,,,,,,,,,,
synonymous_variant,BCAR1,SILENT,NM_001170714.1:p.Pro467Pro/c.1401G>A,ccG/ccA,LOW,COSM4129362(2),0.471845,0.8512,rs3743613,,,,,,chr16,75269534,75269534,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro467Pro/c.1401G>A|916|BCAR1|protein_coding|CODING|NM_001170714.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro439Pro/c.1317G>A|888|BCAR1|protein_coding|CODING|NM_001170715.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro439Pro/c.1317G>A|888|BCAR1|protein_coding|CODING|NM_001170716.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro439Pro/c.1317G>A|888|BCAR1|protein_coding|CODING|NM_001170717.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro421Pro/c.1263G>A|870|BCAR1|protein_coding|CODING|NM_001170718.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro419Pro/c.1257G>A|868|BCAR1|protein_coding|CODING|NM_001170719.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro273Pro/c.819G>A|722|BCAR1|protein_coding|CODING|NM_001170720.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro211Pro/c.633G>A|660|BCAR1|protein_coding|CODING|NM_001170721.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro421Pro/c.1263G>A|870|BCAR1|protein_coding|CODING|NM_014567.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5368,0.3703,0.3171,0.30,0.30,0.31,,,,,,,,,,,,,,,,
missense_variant,BCAR1,MISSENSE,NM_001170714.1:p.Pro122Ser/c.364C>T,Ccc/Tcc,MODERATE,COSM1563498(4),0.59385,0.629,rs1035539,0.5(T),"0.002,0.003,0.004,0.006,0.001,0.007,0.001(B,B,B,B,B,B,B)",1.1(L),-0.9437(T),,chr16,75276775,75276775,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro122Ser/c.364C>T|916|BCAR1|protein_coding|CODING|NM_001170714.1|3|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro94Ser/c.280C>T|888|BCAR1|protein_coding|CODING|NM_001170715.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro94Ser/c.280C>T|888|BCAR1|protein_coding|CODING|NM_001170716.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro76Ser/c.226C>T|888|BCAR1|protein_coding|CODING|NM_001170717.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro76Ser/c.226C>T|870|BCAR1|protein_coding|CODING|NM_001170718.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro74Ser/c.220C>T|868|BCAR1|protein_coding|CODING|NM_001170719.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro76Ser/c.226C>T|870|BCAR1|protein_coding|CODING|NM_014567.3|2|1),intron_variant(MODIFIER|||c.189+37C>T|722|BCAR1|protein_coding|CODING|NM_001170720.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6922,0.7622,0.6769,0.58,0.40,0.67,,0.318187(N),0.005(P),"0.51,0.51,0.51,0.51,0.51,0.51,0.51,0.51(T,T,T,T,T,T,T,T)",0.0000(T),0.256,0.047302,4.97,3.99,0.655000,1.200000,3.618000,0.115000,0.109000,0.726000,9.9141
synonymous_variant,CFDP1,SILENT,NM_006324.2:p.Leu278Leu/c.834T>C,ctT/ctC,LOW,,0.785942,0.6002,rs386556452,,,,,,chr16,75327916,75327916,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu278Leu/c.834T>C|299|CFDP1|protein_coding|CODING|NM_006324.2|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8395,0.8991,0.8469,0.83,0.79,0.86,,,,,,,,,,,,,,,,
missense_variant,CNTNAP4,MISSENSE,NM_033401.3:p.Arg786Gly/c.2356A>G,Agg/Ggg,MODERATE,,0.839457,0.9712,rs12933808,0.65(T),"0.001,0.0,0.0(B,B,B)",,-0.9940(T),,chr16,76532583,76532583,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg786Gly/c.2356A>G|1307|CNTNAP4|protein_coding|CODING|NM_033401.3|15|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln713Arg/c.2138A>G|1235|CNTNAP4|protein_coding|CODING|NM_138994.3|14|1)",,,,,0.8783,0.8818,0.9066,0.84,0.70,0.91,,0.166516(N),1.000(P),"-1.24,-1.24,-1.24,-1.24(T,T,T,T)",0.0000(T),0.816,0.057421,4.93,-0.494,-0.128000,-0.350000,0.279000,0.643000,0.046000,0.000000,6.0408
synonymous_variant,MON1B,SILENT,NM_014940.3:p.Arg291Arg/c.873A>G,cgA/cgG,LOW,COSM4129372(1),0.98722,0.999,rs2232503,,,,,,chr16,77228629,77228629,A,G,hom,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg182Arg/c.546A>G|438|MON1B|protein_coding|CODING|NM_001286639.1|3|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg145Arg/c.435A>G|401|MON1B|protein_coding|CODING|NM_001286640.1|2|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg291Arg/c.873A>G|547|MON1B|protein_coding|CODING|NM_014940.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,SYCE1L,MISSENSE,NM_001129979.1:p.Thr16Ala/c.46A>G,Act/Gct,MODERATE,,0.98762,1,rs4888607,1(T),0.0(B),-1.32(N),-0.9808(T),,chr16,77233394,77233394,A,G,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr16Ala/c.46A>G|242|SYCE1L|protein_coding|CODING|NM_001129979.1|1|1),3_prime_UTR_variant(MODIFIER||1189|c.*1189A>G|438|MON1B|protein_coding|CODING|NM_001286639.1|5|1),3_prime_UTR_variant(MODIFIER||1189|c.*1189A>G|401|MON1B|protein_coding|CODING|NM_001286640.1|4|1),3_prime_UTR_variant(MODIFIER||1189|c.*1189A>G|547|MON1B|protein_coding|CODING|NM_014940.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,,1.000(P),1.09(T),0.0000(T),0.017,-1.407103,3.65,-6.73,-0.766000,-2.124000,-0.606000,0.002000,0.000000,0.000000,2.7059
missense_variant,SYCE1L,MISSENSE,NM_001129979.1:p.Arg178Gln/c.533G>A,cGg/cAg,MODERATE,COSM435799(1),0.36242,0.3065,rs13331769,0.71(T),0.408(B),0.55(N),-0.9470(T),,chr16,77246218,77246218,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg178Gln/c.533G>A|242|SYCE1L|protein_coding|CODING|NM_001129979.1|9|1),"H1ESC:PolII,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,K562:E2F6,H1ESC:Yy1,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,H1ESC:Tcf12,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.3845,0.3833,0.5875,,,,,0.457533(U),1.000(P),0.88(T),0.0000(T),0.182,-0.115281,3.01,0.923,0.471000,0.272000,-0.261000,0.107000,0.001000,0.005000,3.8967
missense_variant,SYCE1L,MISSENSE,NM_001129979.1:p.Pro210Thr/c.628C>A,Ccc/Acc,MODERATE,COSM435800(10),0.204872,0.1339,rs62049594,0.34(T),0.118(B),0.695(N),-0.9113(T),,chr16,77246517,77246517,C,A,hom,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro210Thr/c.628C>A|242|SYCE1L|protein_coding|CODING|NM_001129979.1|10|1),"H1ESC:PolII,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HUVEC:H3K27ac,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.2658,0.2435,0.4175,0.29,0.09,0.38,,,1.000(P),0.93(T),0.0000(T),0.074,1.685129,3.12,-0.663,0.305000,0.118000,-0.852000,0.082000,0.002000,0.000000,1.3164
synonymous_variant,SYCE1L,SILENT,NM_001129979.1:p.Pro232Pro/c.696C>G,ccC/ccG,LOW,COSM3755090(1),0.510583,0.5942,rs2278049,,,,,,chr16,77246795,77246795,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro232Pro/c.696C>G|242|SYCE1L|protein_coding|CODING|NM_001129979.1|11|1),"H1ESC:PolII,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.5613,0.4841,0.6968,,,,,,,,,,,,,,,,,,,
missense_variant,ADAMTS18,MISSENSE,NM_199355.2:p.Ser1080Arg/c.3240C>A,agC/agA,MODERATE,COSM148121(4),0.227835,0.1101,rs35478105,0.56(T),0.125(B),0.31(N),-0.9601(T),,chr16,77325325,77325325,G,T,hom,missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser1080Arg/c.3240C>A|1221|ADAMTS18|protein_coding|CODING|NM_199355.2|21|1),"GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3078,0.245,0.5159,0.37,0.12,0.50,,0.001099(N),0.999(P),0.6(T),0.0000(T),0.15,3.274610,5.8,-4.75,-0.253000,-0.629000,-0.545000,0.846000,0.928000,0.036000,10.3361
synonymous_variant,ADAMTS18,SILENT,NM_199355.2:p.Asp447Asp/c.1341T>C,gaT/gaC,LOW,,0.882188,0.8968,rs386615100,,,,,,chr16,77389956,77389956,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp447Asp/c.1341T>C|1221|ADAMTS18|protein_coding|CODING|NM_199355.2|9|1),HUVEC:H3K36me3,,,,0.8763,0.866,0.8549,0.87,0.89,0.87,,,,,,,,,,,,,,,,
missense_variant,NUDT7,MISSENSE,NM_001243660.1:p.Arg90Cys/c.268C>T,Cgc/Tgc,MODERATE,,0.914137,0.9901,rs308926,,,,,,chr16,77769369,77769369,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg90Cys/c.268C>T|223|NUDT7|protein_coding|CODING|NM_001243660.1|3|1),intron_variant(MODIFIER|||c.190-356C>T|238|NUDT7|protein_coding|CODING|NM_001105663.2|2|1),intron_variant(MODIFIER|||c.190-356C>T|170|NUDT7|protein_coding|CODING|NM_001243657.1|2|1),intron_variant(MODIFIER|||c.190-6110C>T|185|NUDT7|protein_coding|CODING|NM_001243661.1|2|1)",,,,,0.9939,0.9683,0.9901,,,,,,,,,,,,,,,,,,,
missense_variant,CLEC3A,MISSENSE,NM_005752.4:p.Gln206Lys/c.616C>A,Caa/Aaa,MODERATE,,0.13139,0.245,rs2072663,0.41(T),0.0(B),0(N),-1.0255(T),,chr16,78064733,78064733,C,A,hom,"missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln145Lys/c.433C>A|145|CLEC3A|protein_coding|CODING|NM_001244755.1|2|1),missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln206Lys/c.616C>A|206|CLEC3A|protein_coding|CODING|NM_005752.4|3|1)",NHEK:H3K27me3,,,,0.0951,0.1441,0.1223,0.12,0.08,0.13,,0.018298(N),1.000(P),,0.0000(T),0.115,1.268501,6.07,3.85,-0.238000,0.547000,3.057000,0.032000,0.264000,0.904000,10.2292
missense_variant,WWOX,MISSENSE,NM_130791.3:p.Lys182Glu/c.544A>G,Aag/Gag,MODERATE,,0.0646965,0.0694,rs77067228,0(D),0.0(B),,-0.9169(T),,chr16,78312527,78312527,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys182Glu/c.544A>G|189|WWOX|protein_coding|CODING|NM_130791.3|6|1),intron_variant(MODIFIER|||c.178-108230A>G|301|WWOX|protein_coding|CODING|NM_001291997.1|4|1),intron_variant(MODIFIER|||c.517-108230A>G|414|WWOX|protein_coding|CODING|NM_016373.3|5|1),non_coding_exon_variant(MODIFIER|||n.1024A>G||WWOX||CODING|NR_120436.1|6|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.1391,0.0504,0.0755,0.05,0.01,0.07,,,1.000(P),-1.46(T),0.0249(T),0.057,2.533270,4.95,1.18,-0.408000,0.060000,-0.544000,0.070000,0.000000,0.000000,1.5385
missense_variant,WWOX,MISSENSE,NM_016373.3:p.Ala179Thr/c.535G>A,Gca/Aca,MODERATE,,0.263379,0.0635,rs11545029,0.14(T),0.076(B),0.7(N),-0.9280(T),,chr16,78420775,78420775,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala66Thr/c.196G>A|301|WWOX|protein_coding|CODING|NM_001291997.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala179Thr/c.535G>A|414|WWOX|protein_coding|CODING|NM_016373.3|6|1)",,,,,0.229,0.4035,0.6064,0.46,0.20,0.58,,0.000002(D),0.000(P),-2.28(D),0.0000(T),0.664,3.128484,5.52,5.52,0.655000,2.597000,8.072000,0.985000,1.000000,1.000000,19.4505
missense_variant,CENPN,MISSENSE,NM_001100625.2:p.Glu84Asp/c.252A>T,gaA/gaT,MODERATE,,0.984026,1,rs935939,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.5(N),-0.9702(T),,chr16,81050965,81050965,A,T,hom,"missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu84Asp/c.252A>T|339|CENPN|protein_coding|CODING|NM_001100624.2|4|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu84Asp/c.252A>T|353|CENPN|protein_coding|CODING|NM_001100625.2|4|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu84Asp/c.252A>T|305|CENPN|protein_coding|CODING|NM_001270474.1|4|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu84Asp/c.252A>T|204|CENPN|protein_coding|CODING|NM_018455.5|4|1),intron_variant(MODIFIER|||c.218-398A>T|319|CENPN|protein_coding|CODING|NM_001270473.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.96,1.00,,0.319544(N),0.000(P),"1.98,1.98,1.98,1.98(T,T,T,T)",0.0000(T),0.053,0.694723,5.58,5.58,-0.336000,0.960000,1.454000,0.551000,1.000000,1.000000,9.899
missense_variant,CENPN,MISSENSE,NM_001100625.2:p.Glu288Lys/c.862G>A,Gaa/Aaa,MODERATE,COSM3999943(2),0.597244,0.5456,rs2549887,0.74(T),"0.003,0.002,0.007,0.003(B,B,B,B)",-0.18(N),-1.0249(T),,chr16,81061827,81061827,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu288Lys/c.862G>A|339|CENPN|protein_coding|CODING|NM_001100624.2|10|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu288Lys/c.862G>A|353|CENPN|protein_coding|CODING|NM_001100625.2|10|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu268Lys/c.802G>A|319|CENPN|protein_coding|CODING|NM_001270473.1|9|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu254Lys/c.760G>A|305|CENPN|protein_coding|CODING|NM_001270474.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.817,0.6412,0.7694,0.67,0.40,0.79,,0.012139(N),0.003(P),"2.02,2.02,2.02,2.02(T,T,T,T)",0.0000(T),0.05,1.035856,6.17,-1.92,-0.768000,-0.569000,0.124000,0.656000,0.224000,0.928000,8.5922
synonymous_variant,ATMIN,SILENT,NM_015251.2:p.Ala604Ala/c.1812T>C,gcT/gcC,LOW,,0.702676,0.7202,rs2257378,,,,,,chr16,81077915,81077915,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala448Ala/c.1344T>C|667|ATMIN|protein_coding|CODING|NM_001300728.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala604Ala/c.1812T>C|823|ATMIN|protein_coding|CODING|NM_015251.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8824,0.8271,0.8738,0.74,0.45,0.89,,,,,,,,,,,,,,,,
synonymous_variant,C16orf46,SILENT,NM_152337.2:p.Pro279Pro/c.837A>G,ccA/ccG,LOW,,0.00339457,0.001,rs34941481,,,,,,chr16,81095117,81095117,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro279Pro/c.837A>G|395|C16orf46|protein_coding|CODING|NM_152337.2|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro279Pro/c.837A>G|388|C16orf46|protein_coding|CODING|NM_001100873.1|3|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.002,0.0086,0.008,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,C16orf46,SILENT,NM_152337.2:p.Leu197Leu/c.591G>A,ctG/ctA,LOW,COSM3999946(1),0.716054,0.7252,rs804885,,,,,,chr16,81095363,81095363,C,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu197Leu/c.591G>A|395|C16orf46|protein_coding|CODING|NM_152337.2|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu197Leu/c.591G>A|388|C16orf46|protein_coding|CODING|NM_001100873.1|3|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8834,0.8501,0.8946,0.77,0.48,0.92,,,,,,,,,,,,,,,,
stop_lost,PKD1L2,MISSENSE,NM_052892.3:p.Ter2315Serext*?/c.6944G>C,tGa/tCa,HIGH,,0.836661,0.7966,rs8054182,,,,,,chr16,81145807,81145807,C,G,hom,"stop_lost(HIGH|MISSENSE|tGa/tCa|p.Ter1630Serext*?/c.4889G>C|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|29|1|WARNING_TRANSCRIPT_INCOMPLETE),stop_lost(HIGH|MISSENSE|tGa/tCa|p.Ter2315Serext*?/c.6944G>C|2458|PKD1L2|protein_coding|CODING|NM_052892.3|40|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8211,0.8991,0.992,0.92,0.76,0.99,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Val2209Gly/c.6626T>G,gTa/gGa,MODERATE,,0.985423,1,rs4889238,,,,,,chr16,81151122,81151122,A,C,hom,"missense_variant(MODERATE|MISSENSE|gTa/gGa|p.Val1524Gly/c.4571T>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|28|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gTa/gGa|p.Val2209Gly/c.6626T>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|39|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,1,0.9971,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Pro2139Ser/c.6415C>T,Cca/Tca,MODERATE,,0.871805,0.9415,rs4889241,,,,,,chr16,81157324,81157324,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro1454Ser/c.4360C>T|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|26|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro2139Ser/c.6415C>T|2458|PKD1L2|protein_coding|CODING|NM_052892.3|37|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,K562:DNase1",,,,0.8661,0.9553,0.9791,0.90,0.75,0.98,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Met1867Val/c.5599A>G,Atg/Gtg,MODERATE,,0.946286,0.9306,rs12918619,,,,,,chr16,81173136,81173136,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1182Val/c.3544A>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|21|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1867Val/c.5599A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|32|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.9693,0.9323,0.9592,0.96,0.94,0.96,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Gly1848Arg/c.5542G>A,Ggg/Agg,MODERATE,,0.421725,0.3135,rs4889244,,,,,,chr16,81173193,81173193,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly1163Arg/c.3487G>A|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|21|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly1848Arg/c.5542G>A|2458|PKD1L2|protein_coding|CODING|NM_052892.3|32|1|WARNING_TRANSCRIPT_INCOMPLETE)",,,,,0.5726,0.3977,0.6799,0.57,0.31,0.69,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Ala1739Val/c.5216C>T,gCg/gTg,MODERATE,COSM435821(1),0.134984,0.2282,rs35941327,,,,,,chr16,81175103,81175103,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1054Val/c.3161C>T|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|20|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1739Val/c.5216C>T|2458|PKD1L2|protein_coding|CODING|NM_052892.3|31|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:CTCF,HepG2:H3K4me2,K562:Nfe2,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0.0808,0.0965,0.1044,0.10,0.12,0.09,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Tyr1699Cys/c.5096A>G,tAt/tGt,MODERATE,,0.104433,0.25,rs66463064,,,,,,chr16,81180995,81180995,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1014Cys/c.3041A>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|19|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1699Cys/c.5096A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|30|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0777,0.0836,0.1054,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L2,SILENT,NM_052892.3:p.Pro1675Pro/c.5025C>T,ccC/ccT,LOW,,0.104633,0.251,rs55991107,,,,,,chr16,81181066,81181066,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro990Pro/c.2970C>T|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|19|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1675Pro/c.5025C>T|2458|PKD1L2|protein_coding|CODING|NM_052892.3|30|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0777,0.0836,0.1054,0.07,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Met1645Val/c.4933A>G,Atg/Gtg,MODERATE,,0.178315,0.3125,rs9921748,,,,,,chr16,81181783,81181783,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met960Val/c.2878A>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|18|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1645Val/c.4933A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|29|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0808,0.2205,0.1143,0.11,0.15,0.09,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Gln1616Arg/c.4847A>G,cAg/cGg,MODERATE,,0.178315,0.3125,rs9921827,,,,,,chr16,81181869,81181869,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln931Arg/c.2792A>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|18|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1616Arg/c.4847A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|29|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0808,0.2205,0.1143,0.11,0.16,0.09,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Val1505Met/c.4513G>A,Gtg/Atg,MODERATE,,0.174121,0.3095,rs34444956,,,,,,chr16,81185412,81185412,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val820Met/c.2458G>A|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|16|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1505Met/c.4513G>A|2458|PKD1L2|protein_coding|CODING|NM_052892.3|27|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0787,0.2161,0.1133,0.11,0.15,0.09,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L2,SILENT,NM_052892.3:p.Asp1503Asp/c.4509T>C,gaT/gaC,LOW,,0.940096,1,rs8061038,,,,,,chr16,81185416,81185416,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp818Asp/c.2454T>C|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|16|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1503Asp/c.4509T>C|2458|PKD1L2|protein_coding|CODING|NM_052892.3|27|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9769,0.999,0.95,0.83,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L2,SILENT,NM_052892.3:p.Leu1502Leu/c.4506C>G,ctC/ctG,LOW,,0.174321,0.3095,rs57461213,,,,,,chr16,81185419,81185419,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu817Leu/c.2451C>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|16|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1502Leu/c.4506C>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|27|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0787,0.2161,0.1133,0.11,0.15,0.08,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Ile1331Val/c.3991A>G,Atc/Gtc,MODERATE,,0.21226,0.369,rs9938333,,,,,,chr16,81190598,81190598,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile646Val/c.1936A>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|13|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1331Val/c.3991A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|24|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1483,0.2781,0.1561,0.14,0.14,0.13,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Asn1330Asp/c.3988A>G,Aac/Gac,MODERATE,COSM4129391(1),0.969249,1,rs1453325,,,,,,chr16,81190601,81190601,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn645Asp/c.1933A>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|13|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1330Asp/c.3988A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|24|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9898,0.9769,0.9672,0.98,0.99,0.97,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Ser1326Pro/c.3976T>C,Tcc/Ccc,MODERATE,,0.766773,0.6974,rs1453324,,,,,,chr16,81190613,81190613,A,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser641Pro/c.1921T>C|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|13|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser1326Pro/c.3976T>C|2458|PKD1L2|protein_coding|CODING|NM_052892.3|24|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8926,0.745,0.8598,0.83,0.73,0.88,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Gly1268Ser/c.3802G>A,Ggc/Agc,MODERATE,,0.170927,0.2262,rs72628271,,,,,,chr16,81193321,81193321,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly583Ser/c.1747G>A|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|12|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1268Ser/c.3802G>A|2458|PKD1L2|protein_coding|CODING|NM_052892.3|23|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.183,0.147,0.2505,0.20,0.10,0.24,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L2,SILENT,NM_052892.3:p.Pro1202Pro/c.3606A>G,ccA/ccG,LOW,COSM4129393(1),0.662939,0.625,rs2317117,,,,,,chr16,81194382,81194382,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro517Pro/c.1551A>G|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|11|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1202Pro/c.3606A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|22|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7464,0.7017,0.8459,0.80,0.56,0.92,,,,,,,,,,,,,,,,
synonymous_variant,PKD1L2,SILENT,NM_052892.3:p.Thr853Thr/c.2559G>A,acG/acA,LOW,COSM3755105(1),0.200679,0.3075,rs935933,,,,-1.0008(T),,chr16,81209234,81209234,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr853Thr/c.2559G>A|991|PKD1L2|protein_coding|CODING|NM_001076780.1|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr168Thr/c.504G>A|306|PKD1L2|protein_coding|CODING|NM_001278423.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr168Thr/c.504G>A|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|acG/acA|p.Thr853Thr/c.2559G>A|2458|PKD1L2|protein_coding|CODING|NM_052892.3|15|1|WARNING_TRANSCRIPT_INCOMPLETE)","IMR90:H2BK120ac,GM06990:H3K27me3,GM12878:H3K36me3,IMR90:H3K4me2,IMR90:DNase1,IMR90:H2BK12ac,HSMM:DNase1,IMR90:H3K4ac,IMR90:H3K4me1,IMR90:H3K27ac,IMR90:H4K91ac,HepG2:FOSL2,HepG2:FOXA2,HeLa-S3:Cfos,IMR90:H3K18ac,HepG2:FOXA1,HepG2:Jund",,,,0.1524,0.196,0.0964,0.13,0.20,0.09,,,1.000(P),,0.0000(T),.,-1.028937,4.82,0.137,-0.556000,-0.300000,-0.049000,0.088000,0.006000,0.056000,8.9929
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Leu711Pro/c.2132T>C,cTg/cCg,MODERATE,COSM4129396(1),0.80012,0.9623,rs4889261,1(T),"0.0,0.0,0.0(B,B,B)",,-0.9405(T),,chr16,81213378,81213378,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu711Pro/c.2132T>C|991|PKD1L2|protein_coding|CODING|NM_001076780.1|13|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu26Pro/c.77T>C|306|PKD1L2|protein_coding|CODING|NM_001278423.1|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu26Pro/c.77T>C|1773|PKD1L2|protein_coding|CODING|NM_001278425.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu711Pro/c.2132T>C|2458|PKD1L2|protein_coding|CODING|NM_052892.3|13|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7311,0.8213,0.83,0.80,0.73,0.83,,0.003525(N),0.001(P),"2.73,-0.41,2.4(T,T,T)",0.0000(T),0.489,-1.631266,5.02,5.02,-0.355000,1.137000,3.419000,0.003000,0.737000,0.998000,10.9073
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Pro512Leu/c.1535C>T,cCg/cTg,MODERATE,,0.761182,0.9514,rs7205673,0.06(T),"0.947,0.755(D,P)",,-1.0474(T),,chr16,81232275,81232275,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro512Leu/c.1535C>T|991|PKD1L2|protein_coding|CODING|NM_001076780.1|7|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro512Leu/c.1535C>T|2458|PKD1L2|protein_coding|CODING|NM_052892.3|7|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.7004,0.7824,0.7833,0.75,0.66,0.79,,0.029294(N),0.000(P),4.95(T),0.0000(T),0.415,1.872282,5.08,5.08,0.549000,2.371000,1.925000,0.023000,0.881000,0.983000,14.1224
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Lys416Gln/c.1246A>C,Aaa/Caa,MODERATE,,0.787939,0.9544,rs386608275,0.92(T),"0.002,0.003(B,B)",,-1.0026(T),,chr16,81232564,81232564,T,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys416Gln/c.1246A>C|991|PKD1L2|protein_coding|CODING|NM_001076780.1|7|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys416Gln/c.1246A>C|2458|PKD1L2|protein_coding|CODING|NM_052892.3|7|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,K562:CTCF,GM12878:H3K36me3,HeLa-S3:CTCF,HMEC:CTCF,K562:H3K27me3,HepG2:HNF4A,K562:Rad21,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21",,,,0.7035,0.7896,0.7863,0.78,0.74,0.80,,0.581429(N),1.000(P),5.1(T),0.0000(T),0.201,-0.231983,5.25,2.15,-0.384000,0.198000,0.483000,0.032000,0.049000,0.051000,9.2619
synonymous_variant,PKD1L2,SILENT,NM_052892.3:p.Pro301Pro/c.903G>A,ccG/ccA,LOW,COSM3932457(2),0.701677,0.8839,rs11150369,,,,,,chr16,81241098,81241098,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro301Pro/c.903G>A|991|PKD1L2|protein_coding|CODING|NM_001076780.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro301Pro/c.903G>A|2458|PKD1L2|protein_coding|CODING|NM_052892.3|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6636,0.7378,0.8539,0.74,0.53,0.84,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Pro301Ala/c.901C>G,Ccg/Gcg,MODERATE,COSM3932459(2),0.473642,0.8661,rs11150370,0.03(D),"0.639,0.977(P,D)",,-0.9748(T),,chr16,81241100,81241100,G,C,het,"missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro301Ala/c.901C>G|991|PKD1L2|protein_coding|CODING|NM_001076780.1|5|1),missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro301Ala/c.901C>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5031,0.4784,0.4384,0.36,0.21,0.43,,0.000000(D),0.000(P),-0.2(T),0.0000(T),0.351,2.741991,4.93,4.93,0.563000,2.277000,6.049000,0.032000,0.976000,1.000000,18.1543
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Arg252Trp/c.754C>T,Cgg/Tgg,MODERATE,COSM3755117(1),0.565495,0.881,rs6420424,0.1(T),"0.003,0.002(B,B)",,-1.0089(T),,chr16,81242102,81242102,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg252Trp/c.754C>T|991|PKD1L2|protein_coding|CODING|NM_001076780.1|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg252Trp/c.754C>T|2458|PKD1L2|protein_coding|CODING|NM_052892.3|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5245,0.5086,0.4632,0.46,0.44,0.47,,0.090491(N),1.000(P),4.94(T),0.0000(T),0.386,-0.209849,4.11,2.0,-1.598000,0.223000,1.700000,0.086000,0.580000,0.965000,2.9711
synonymous_variant,PKD1L2,SILENT,NM_052892.3:p.Gly235Gly/c.705A>G,ggA/ggG,LOW,COSM314179(7),0.441494,0.8026,rs5818326,,,,,,chr16,81242151,81242151,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly235Gly/c.705A>G|991|PKD1L2|protein_coding|CODING|NM_001076780.1|4|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly235Gly/c.705A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4407,0.4625,0.4205,,,,,,,,,,,,,,,,,,,
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Glu221Gly/c.662A>G,gAg/gGg,MODERATE,,0.732228,0.8839,rs6564838,1(T),"0.0,0.0(B,B)",,-0.9745(T),,chr16,81242194,81242194,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu221Gly/c.662A>G|991|PKD1L2|protein_coding|CODING|NM_001076780.1|4|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu221Gly/c.662A>G|2458|PKD1L2|protein_coding|CODING|NM_052892.3|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6616,0.745,0.8469,0.77,0.63,0.84,,0.000031(N),0.000(P),2.53(T),0.0000(T),0.231,-0.362040,4.31,4.31,-0.642000,0.824000,4.255000,0.451000,1.000000,0.999000,11.9836
stop_gained,PKD1L2,NONSENSE,NM_052892.3:p.Gln220*/c.658C>T,Cag/Tag,HIGH,,0.161741,0.003,rs7499011,0.04(D),,,,PKD1L2:0.50(4);PKD1L2:0.50(4);,chr16,81242198,81242198,G,A,het,"stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln220*/c.658C>T|991|PKD1L2|protein_coding|CODING|NM_001076780.1|4|1),stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln220*/c.658C>T|2458|PKD1L2|protein_coding|CODING|NM_052892.3|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1391,0.2349,0.3837,0.29,0.14,0.36,,0.000017(D),0.000(P),,,.,5.056326,4.31,4.31,0.313000,1.957000,7.373000,0.521000,1.000000,1.000000,16.402
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Val183Ile/c.547G>A,Gtc/Atc,MODERATE,COSM4129400(1),0.224042,0.3423,rs12933806,0.42(T),"0.001,0.001(B,B)",,-0.9810(T),,chr16,81248716,81248716,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val183Ile/c.547G>A|991|PKD1L2|protein_coding|CODING|NM_001076780.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val183Ile/c.547G>A|2458|PKD1L2|protein_coding|CODING|NM_052892.3|3|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:CTCF,HeLa-S3:DNase1,K562:CTCF,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,K562:H3K27me3,K562:Rad21,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.2413,0.1844,0.1948,0.19,0.15,0.21,,0.140537(N),0.432(P),2.31(T),0.0000(T),0.084,-0.763459,4.77,-9.53,-1.103000,-1.943000,0.549000,0.029000,0.038000,0.534000,3.3061
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Gly129Asp/c.386G>A,gGc/gAc,MODERATE,,0.149361,0.0089,rs7185774,0.09(T),"0.939,0.947(D,D)",,-1.0031(T),,chr16,81249927,81249927,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly129Asp/c.386G>A|991|PKD1L2|protein_coding|CODING|NM_001076780.1|2|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly129Asp/c.386G>A|2458|PKD1L2|protein_coding|CODING|NM_052892.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1472,0.2219,0.3598,0.27,0.12,0.35,,0.794543(N),0.000(P),2.2(T),0.0000(T),0.495,3.316419,5.09,5.09,0.650000,2.391000,3.983000,0.035000,0.902000,1.000000,18.5832
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Gln120Leu/c.359A>T,cAg/cTg,MODERATE,,0.469449,0.4425,rs7191351,0(D),"0.463,0.187(P,B)",,-0.9949(T),,chr16,81249954,81249954,T,A,het,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln120Leu/c.359A>T|991|PKD1L2|protein_coding|CODING|NM_001076780.1|2|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln120Leu/c.359A>T|2458|PKD1L2|protein_coding|CODING|NM_052892.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.409,0.5519,0.6541,0.58,0.46,0.63,,0.087718(N),1.000(P),2.1(T),0.0000(T),0.442,2.245031,5.09,1.37,-0.320000,0.292000,1.173000,0.008000,0.011000,0.462000,7.8882
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Trp73Arg/c.217T>C,Tgg/Cgg,MODERATE,,0.534545,0.4405,rs9924371,0.54(T),"0.0,0.0(B,B)",,-0.9833(T),,chr16,81253759,81253759,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp73Arg/c.217T>C|991|PKD1L2|protein_coding|CODING|NM_001076780.1|1|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp73Arg/c.217T>C|2458|PKD1L2|protein_coding|CODING|NM_052892.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4059,0.562,0.6511,0.64,0.64,0.63,,0.200499(N),0.998(P),2.33(T),0.0000(T),0.347,-2.430925,4.17,-0.109,-0.930000,-0.436000,0.397000,0.214000,0.022000,0.984000,0.212
missense_variant,PKD1L2,MISSENSE,NM_052892.3:p.Val20Ala/c.59T>C,gTt/gCt,MODERATE,,0.535144,0.4405,rs386499964,1(T),"0.0,0.0(B,B)",,-0.9365(T),,chr16,81253917,81253917,A,G,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val20Ala/c.59T>C|991|PKD1L2|protein_coding|CODING|NM_001076780.1|1|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val20Ala/c.59T>C|2458|PKD1L2|protein_coding|CODING|NM_052892.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4059,0.562,0.6501,0.64,0.65,0.63,,0.049204(N),1.000(P),2.36(T),0.0000(T),0.154,-1.453081,4.17,3.22,-0.213000,0.426000,1.062000,0.013000,0.001000,0.009000,3.3619
synonymous_variant,BCO1,SILENT,NM_017429.2:p.Asn35Asn/c.105T>C,aaT/aaC,LOW,COSM148124(1),0.379593,0.3472,rs28370522,0(D),0.0(B),,-1.0381(T),,chr16,81279120,81279120,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn35Asn/c.105T>C|547|BCO1|protein_coding|CODING|NM_017429.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2342,0.366,0.341,0.39,0.52,0.32,,,0.000(P),-3.19(D),0.0000(T),.,0.577439,4.89,-7.85,-1.551000,-2.283000,-2.127000,0.549000,0.029000,0.000000,17.4964
missense_variant,BCO1,MISSENSE,NM_017429.2:p.Arg267Ser/c.801A>T,agA/agT,MODERATE,COSM4129401(1),0.227236,0.128,rs12934922,0.09(T),"0.009,0.002(B,B)",0.255(N),-0.9177(T),,chr16,81301694,81301694,A,T,het,missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg267Ser/c.801A>T|547|BCO1|protein_coding|CODING|NM_017429.2|6|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.2311,0.3199,0.4404,0.35,0.16,0.45,,0.000009(D),0.000(P),"-3.48,-3.1(D,D)",0.0000(T),0.132,2.565170,5.22,-7.5,0.319000,-0.659000,-2.352000,0.887000,0.976000,0.000000,0.3682
missense_variant,BCO1,MISSENSE,NM_017429.2:p.Ala379Val/c.1136C>T,gCa/gTa,MODERATE,COSM3999952(1),0.152157,0.1875,rs7501331,0.28(T),"0.345,0.114(B,B)",1.245(L),-1.0829(T),,chr16,81314496,81314496,C,T,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala379Val/c.1136C>T|547|BCO1|protein_coding|CODING|NM_017429.2|8|1),"GM12878:H3K36me3,HUVEC:DNase1,HUVEC:H3K4me2,K562:H3K27me3,HUVEC:H3K4me1,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.2117,0.1744,0.2316,0.17,0.05,0.23,,0.761746(N),0.219(P),"-3.61,-3.23(D,D)",0.0008(T),0.074,2.954275,5.61,4.6,0.655000,2.793000,1.730000,0.986000,0.265000,0.052000,15.431
synonymous_variant,CMIP,SILENT,NM_198390.2:p.Leu622Leu/c.1866G>A,ctG/ctA,LOW,,0.000199681,0,,,,,,,chr16,81735375,81735375,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu528Leu/c.1584G>A|679|CMIP|protein_coding|CODING|NM_030629.2|16|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu622Leu/c.1866G>A|773|CMIP|protein_coding|CODING|NM_198390.2|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLCG2,SILENT,NM_002661.4:p.Ala58Ala/c.174T>C,gcT/gcC,LOW,,0.733227,0.8591,rs1143685,,,,,,chr16,81819768,81819768,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala58Ala/c.174T>C|1265|PLCG2|protein_coding|CODING|NM_002661.4|2|1),"GM12878:H3K4me3,GM12878:H3K36me3,GM12878:H3K79me2,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.7791,0.7277,0.6859,0.67,0.63,0.69,,,,,,,,,,,,,,,,
synonymous_variant,PLCG2,SILENT,NM_002661.4:p.Leu99Leu/c.297A>G,ctA/ctG,LOW,,0.212061,0.0625,rs1143686,,,,,,chr16,81888152,81888152,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu99Leu/c.297A>G|1265|PLCG2|protein_coding|CODING|NM_002661.4|3|1),"GM12878:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3078,0.2853,0.3111,0.26,0.16,0.31,,,,,,,,,,,,,,,,
missense_variant,PLCG2,MISSENSE,NM_002661.4:p.His257Leu/c.770A>T,cAt/cTt,MODERATE,COSM3755126(1),0.0121805,0,rs45443101,0.36(T),"0.0,0.0(B,B)",-0.975(N),-0.9871(T),,chr16,81922781,81922781,A,T,het,missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His257Leu/c.770A>T|1265|PLCG2|protein_coding|CODING|NM_002661.4|10|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:HNF4A,HepG2:FOSL2,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:FOXA1,HepG2:DNase1,GM06990:H3K36me3",,,,0.0051,0.0375,0.0278,0.03,0.01,0.04,,0.336717(N),1.000(N),2.36(T),0.0035(T),0.362,1.580056,4.74,-3.75,-0.624000,-0.319000,-0.073000,0.651000,0.071000,0.000000,5.1267
synonymous_variant,PLCG2,SILENT,NM_002661.4:p.Asp383Asp/c.1149C>T,gaC/gaT,LOW,,0.40655,0.7113,rs1143688,,,,,,chr16,81929488,81929488,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp383Asp/c.1149C>T|1265|PLCG2|protein_coding|CODING|NM_002661.4|13|1),"H1ESC:H3K36me3,K562:CTCF,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.4192,0.5994,0.3549,0.29,0.15,0.36,,,,,,,,,,,,,,,,
synonymous_variant,PLCG2,SILENT,NM_002661.4:p.Ala499Ala/c.1497C>T,gcC/gcT,LOW,,0.77496,0.9544,rs1143689,,,,,,chr16,81941319,81941319,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala499Ala/c.1497C>T|1265|PLCG2|protein_coding|CODING|NM_002661.4|16|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8047,0.8746,0.7535,0.72,0.62,0.77,,,,,,,,,,,,,,,,
synonymous_variant,PLCG2,SILENT,NM_002661.4:p.Asn1031Asn/c.3093T>C,aaT/aaC,LOW,,0.313898,0.3442,rs1071644,,,,,,chr16,81971403,81971403,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1031Asn/c.3093T>C|1265|PLCG2|protein_coding|CODING|NM_002661.4|28|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4039,0.3199,0.504,0.41,0.15,0.53,,,,,,,,,,,,,,,,
synonymous_variant,MPHOSPH6,SILENT,NM_005792.2:p.Leu13Leu/c.39A>G,ctA/ctG,LOW,COSM1563469(5),0.642572,0.7649,rs1134847,,,,,,chr16,82203742,82203742,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu13Leu/c.39A>G|160|MPHOSPH6|protein_coding|CODING|NM_005792.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.6094,0.8127,0.7465,0.65,0.48,0.74,,,,,,,,,,,,,,,,
missense_variant,MPHOSPH6,MISSENSE,NM_005792.2:p.Arg8Lys/c.23G>A,aGg/aAg,MODERATE,COSM4129413(1),0.869409,0.8492,rs2303262,1(T),0.0(B),-1.305(N),-0.9692(T),,chr16,82203758,82203758,C,T,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg8Lys/c.23G>A|160|MPHOSPH6|protein_coding|CODING|NM_005792.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.8221,0.8804,0.7853,0.82,0.94,0.76,,0.000009(N),0.000(P),1.19(T),0.0000(T),0.038,0.384710,4.68,2.45,-0.269000,0.023000,1.106000,0.561000,0.939000,1.000000,7.4541
synonymous_variant,MPHOSPH6,SILENT,NM_005792.2:p.Arg5Arg/c.13C>A,Cga/Aga,LOW,COSM1563468(4),0.642572,0.7649,rs2303261,,,,,,chr16,82203768,82203768,G,T,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg5Arg/c.13C>A|160|MPHOSPH6|protein_coding|CODING|NM_005792.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.6094,0.8112,0.7475,0.64,0.48,0.73,,,,,,,,,,,,,,,,
missense_variant,CDH13,MISSENSE,NM_001220488.1:p.Pro55Ser/c.163C>T,Cca/Tca,MODERATE,,0.938698,1,rs4782724,0.35(T),,,-0.9991(T),,chr16,82673047,82673047,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro55Ser/c.163C>T|760|CDH13|protein_coding|CODING|NM_001220488.1|2|1),intron_variant(MODIFIER|||c.45+12305C>T|674|CDH13|protein_coding|CODING|NM_001220489.1|1|1),intron_variant(MODIFIER|||c.-509+12305C>T|459|CDH13|protein_coding|CODING|NM_001220490.1|1|1),intron_variant(MODIFIER|||c.45+12305C>T|190|CDH13|protein_coding|CODING|NM_001220491.1|1|1),intron_variant(MODIFIER|||c.45+12305C>T|175|CDH13|protein_coding|CODING|NM_001220492.1|1|1),intron_variant(MODIFIER|||c.45+12305C>T|713|CDH13|protein_coding|CODING|NM_001257.4|1|1)","IMR90:H2BK120ac,HUVEC:H3K9ac,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H2BK12ac,IMR90:H3K4ac,NH-A:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,NHEK:DNase1",,,,1,0.9755,0.999,,,,,,1.000(P),0.49(T),0.0000(T),0.046,0.002257,3.29,2.2,-0.361000,0.203000,0.197000,0.002000,0.000000,0.000000,5.0461
synonymous_variant,CDH13,SILENT,NM_001220488.1:p.Ser116Ser/c.348G>A,tcG/tcA,LOW,COSM3755128(1),0.534145,0.4573,rs6565105,,,,,,chr16,83065664,83065664,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser116Ser/c.348G>A|760|CDH13|protein_coding|CODING|NM_001220488.1|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser69Ser/c.207G>A|674|CDH13|protein_coding|CODING|NM_001220489.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser69Ser/c.207G>A|190|CDH13|protein_coding|CODING|NM_001220491.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser69Ser/c.207G>A|175|CDH13|protein_coding|CODING|NM_001220492.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser69Ser/c.207G>A|713|CDH13|protein_coding|CODING|NM_001257.4|3|1),intron_variant(MODIFIER|||c.-396-93326G>A|459|CDH13|protein_coding|CODING|NM_001220490.1|2|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NHEK:H3K36me3",,,,0.5501,0.5821,0.5298,0.55,0.55,0.55,,,,,,,,,,,,,,,,
synonymous_variant,CDH13,SILENT,NM_001220491.1:p.Thr163Thr/c.489C>A,acC/acA,LOW,COSM3818633(2),0.45008,0.2708,rs7188594,,,,,,chr16,83214480,83214480,C,A,hom,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr163Thr/c.489C>A|190|CDH13|protein_coding|CODING|NM_001220491.1|5|1),3_prime_UTR_variant(MODIFIER||9309|c.*9C>A|175|CDH13|protein_coding|CODING|NM_001220492.1|6|1),intron_variant(MODIFIER|||c.367-36470C>A|674|CDH13|protein_coding|CODING|NM_001220489.1|3|1),intron_variant(MODIFIER|||c.625-36470C>A|760|CDH13|protein_coding|CODING|NM_001220488.1|5|1),intron_variant(MODIFIER|||c.-279-36470C>A|459|CDH13|protein_coding|CODING|NM_001220490.1|3|1),intron_variant(MODIFIER|||c.484-36470C>A|713|CDH13|protein_coding|CODING|NM_001257.4|4|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.3272,0.2565,0.3777,,,,,,,,,,,,,,,,,,,
synonymous_variant,CDH13,SILENT,NM_001220488.1:p.Asp500Asp/c.1500C>T,gaC/gaT,LOW,,0.0521166,0.004,rs34697339,,,,,,chr16,83711887,83711887,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp500Asp/c.1500C>T|760|CDH13|protein_coding|CODING|NM_001220488.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp414Asp/c.1242C>T|674|CDH13|protein_coding|CODING|NM_001220489.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp199Asp/c.597C>T|459|CDH13|protein_coding|CODING|NM_001220490.1|9|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp453Asp/c.1359C>T|713|CDH13|protein_coding|CODING|NM_001257.4|10|1)","GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0429,0.0274,0.0328,0.06,0.12,0.03,,,,,,,,,,,,,,,,
synonymous_variant,CDH13,SILENT,NM_001220488.1:p.Ala739Ala/c.2217A>G,gcA/gcG,LOW,COSM3999956(1),0.816094,0.7788,rs1048612,,,,,,chr16,83817019,83817019,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala739Ala/c.2217A>G|760|CDH13|protein_coding|CODING|NM_001220488.1|14|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala653Ala/c.1959A>G|674|CDH13|protein_coding|CODING|NM_001220489.1|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala438Ala/c.1314A>G|459|CDH13|protein_coding|CODING|NM_001220490.1|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala692Ala/c.2076A>G|713|CDH13|protein_coding|CODING|NM_001257.4|13|1)","GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8037,0.8602,0.7952,0.81,0.84,0.80,,,,,,,,,,,,,,,,
missense_variant,MLYCD,MISSENSE,NM_012213.2:p.Tyr75His/c.223T>C,Tac/Cac,MODERATE,,,,,0(D),0.088(B),2.095(M),0.7504(D),,chr16,83932972,83932972,T,C,het,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr75His/c.223T>C|493|MLYCD|protein_coding|CODING|NM_012213.2|1|1),"K562:Max,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,K562:Gabp,K562:E2F6,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,,,,,,,,0.000000(D),1.000(D),-3.95(D),0.8299(D),0.691,3.183712,4.25,4.25,0.247000,1.685000,5.856000,0.415000,1.000000,1.000000,12.8227
missense_variant,MLYCD,MISSENSE,NM_012213.2:p.Val301Leu/c.901G>C,Gtg/Ctg,MODERATE,,0.000199681,0,rs199656023,0.03(D),0.869(P),3.01(M),0.8342(D),,chr16,83945925,83945925,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val301Leu/c.901G>C|493|MLYCD|protein_coding|CODING|NM_012213.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0,,,,,0.000001(D),1.000(D),-2.63(D),0.8350(D),0.779,3.583150,5.23,4.27,0.655000,1.346000,7.037000,0.200000,0.706000,1.000000,12.9807
synonymous_variant,OSGIN1,SILENT,NM_182981.2:p.Leu361Leu/c.1083C>A,ctC/ctA,LOW,,0.0625,0.0159,rs35132222,,,,,,chr16,83999261,83999261,C,A,hom,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu361Leu/c.1083C>A|477|OSGIN1|protein_coding|CODING|NM_182981.2|6|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.089,0.0778,0.1491,0.10,0.03,0.14,,,,,,,,,,,,,,,,
synonymous_variant,SLC38A8,SILENT,NM_001080442.2:p.Ser65Ser/c.195G>C,tcG/tcC,LOW,COSM3723593(3),0.441094,0.5863,rs1317524,,,,,,chr16,84070500,84070500,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser65Ser/c.195G>C|435|SLC38A8|protein_coding|CODING|NM_001080442.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3241,0.3646,0.33,0.37,0.48,0.32,,,,,,,,,,,,,,,,
missense_variant,DNAAF1,MISSENSE,NM_178452.4:p.Leu659Val/c.1975C>G,Cta/Gta,MODERATE,COSM3755135(1),0.13139,0.0972,rs2288021,0.16(T),"0.025,0.037(B,B)",0(N),-0.9518(T),,chr16,84209815,84209815,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu659Val/c.1975C>G|725|DNAAF1|protein_coding|CODING|NM_178452.4|11|1),downstream_gene_variant(MODIFIER||1638||843|TAF1C|protein_coding|CODING|NM_001243156.1||1),downstream_gene_variant(MODIFIER||1638||537|TAF1C|protein_coding|CODING|NM_001243157.1||1),downstream_gene_variant(MODIFIER||1638||537|TAF1C|protein_coding|CODING|NM_001243158.1||1),downstream_gene_variant(MODIFIER||1638||460|TAF1C|protein_coding|CODING|NM_001243159.1||1),downstream_gene_variant(MODIFIER||1638||392|TAF1C|protein_coding|CODING|NM_001243160.1||1),downstream_gene_variant(MODIFIER||1638||869|TAF1C|protein_coding|CODING|NM_005679.3||1),downstream_gene_variant(MODIFIER||1638||775|TAF1C|protein_coding|CODING|NM_139353.2||1)","HepG2:H3K4me2,K562:PolII,NHEK:H3K4me1,GM12878:PolII,HepG2:H3K4me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1789,0.2406,0.2078,0.16,0.04,0.22,,0.627428(N),1.000(P),1.86(T),0.0000(T),0.2,1.096043,4.67,0.294,-0.360000,0.214000,-0.449000,0.003000,0.000000,0.000000,2.8722
missense_variant,TAF1C,MISSENSE,NM_005679.3:p.Cys91Tyr/c.272G>A,tGc/tAc,MODERATE,COSM4129433(1),0.9998,1,rs4782591,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.39(N),-0.9306(T),,chr16,84217062,84217062,C,T,hom,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys91Tyr/c.272G>A|843|TAF1C|protein_coding|CODING|NM_001243156.1|4|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys91Tyr/c.272G>A|869|TAF1C|protein_coding|CODING|NM_005679.3|4|1),missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys24Tyr/c.71G>A|775|TAF1C|protein_coding|CODING|NM_139353.2|4|1),5_prime_UTR_variant(MODIFIER||1673|c.-573G>A|537|TAF1C|protein_coding|CODING|NM_001243157.1|2|1),5_prime_UTR_variant(MODIFIER||2114|c.-1006G>A|460|TAF1C|protein_coding|CODING|NM_001243159.1|4|1),5_prime_UTR_variant(MODIFIER||3154|c.-1186G>A|392|TAF1C|protein_coding|CODING|NM_001243160.1|2|1),intron_variant(MODIFIER|||c.-436-1016G>A|537|TAF1C|protein_coding|CODING|NM_001243158.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,0.214693(N),1.000(P),"1.04,1.04,1.04(T,T,T)",0.0000(T),0.33,-0.850193,4.53,-4.59,-0.254000,-0.764000,-1.897000,0.219000,0.000000,0.000000,0.6927
missense_variant,KCNG4,MISSENSE,NM_172347.2:p.Gly325Arg/c.973G>A,Ggg/Agg,MODERATE,,0.176717,0.0506,rs7196482,0.01(D),0.672(P),2.285(M),-0.8804(T),,chr16,84256410,84256410,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly325Arg/c.973G>A|519|KCNG4|protein_coding|CODING|NM_172347.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2086,0.1686,0.2266,0.22,0.21,0.22,,0.004108(N),1.000(P),-4.22(D),0.0018(T),0.059,0.794792,5.61,-2.74,0.655000,-0.433000,-0.117000,0.064000,0.000000,0.000000,8.1708
synonymous_variant,KCNG4,SILENT,NM_172347.2:p.Ser237Ser/c.711C>T,agC/agT,LOW,COSM3755145(2),0.596845,0.4643,rs244811,,,,,,chr16,84270381,84270381,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser237Ser/c.711C>T|519|KCNG4|protein_coding|CODING|NM_172347.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6288,0.5648,0.6183,0.61,0.65,0.58,,,,,,,,,,,,,,,,
missense_variant,KCNG4,MISSENSE,NM_172347.2:p.Arg206Trp/c.616C>T,Cgg/Tgg,MODERATE,COSM3755146(2),0.273762,0.1161,rs11646443,0.17(T),"0.009,0.011(B,B)",0.805(L),-1.0955(T),,chr16,84270476,84270476,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg206Trp/c.616C>T|519|KCNG4|protein_coding|CODING|NM_172347.2|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4254,0.2507,0.3628,0.30,0.25,0.33,,0.808448(U),1.000(P),-4.21(D),0.0000(T),0.092,1.675051,5.11,3.0,0.549000,0.386000,1.442000,0.856000,0.367000,0.249000,5.8407
missense_variant,WFDC1,MISSENSE,NM_001282466.1:p.Lys217Arg/c.650A>G,aAg/aGg,MODERATE,COSM3755147(1),0.298323,0.2788,rs12933084,1(T),0.0(B),0(N),-0.9466(T),,chr16,84360533,84360533,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys217Arg/c.650A>G|220|WFDC1|protein_coding|CODING|NM_001282466.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys216Arg/c.647A>G|219|WFDC1|protein_coding|CODING|NM_001282467.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys217Arg/c.650A>G|220|WFDC1|protein_coding|CODING|NM_021197.3|6|1)","GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2955,0.2709,0.3012,0.32,0.33,0.31,,0.000119(N),1.000(P),1.41(T),0.0000(T),0.028,-1.161164,3.48,1.41,-0.349000,0.111000,0.806000,0.159000,0.001000,0.993000,3.5776
missense_variant,ATP2C2,MISSENSE,NM_001286527.2:p.Met165Leu/c.493A>C,Atg/Ctg,MODERATE,,0.996206,1,rs247818,1(T),"0.0,0.0,0.0(B,B,B)",-1.435(N),-0.9407(T),,chr16,84444349,84444349,A,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met165Leu/c.493A>C|975|ATP2C2|protein_coding|CODING|NM_001286527.2|6|1),missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met165Leu/c.493A>C|946|ATP2C2|protein_coding|CODING|NM_014861.3|6|1),intron_variant(MODIFIER|||c.62+140A>C|795|ATP2C2|protein_coding|CODING|NM_001291454.1|3|1)","GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.99,1.00,,0.002012(N),1.000(P),"-2.27,-2.27(D,D)",0.0000(T),0.061,-0.496664,4.84,3.89,-0.195000,0.473000,1.107000,0.714000,0.999000,1.000000,5.8681
missense_variant,ATP2C2,MISSENSE,NM_001286527.2:p.Met466Leu/c.1396A>T,Atg/Ttg,MODERATE,COSM3755148(1),0.408147,0.4226,rs247897,0.34(T),"0.102,0.051,0.091,0.147(B,B,B,B)",0.105(N),-1.0023(T),,chr16,84476200,84476200,A,T,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met466Leu/c.1396A>T|975|ATP2C2|protein_coding|CODING|NM_001286527.2|15|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met315Leu/c.943A>T|795|ATP2C2|protein_coding|CODING|NM_001291454.1|12|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met466Leu/c.1396A>T|946|ATP2C2|protein_coding|CODING|NM_014861.3|15|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4162,0.3401,0.3499,0.39,0.42,0.38,,0.000001(D),0.002(P),"-3.68,-3.68(D,D)",0.0000(T),0.137,1.446866,4.92,3.8,0.402000,0.794000,6.632000,0.277000,0.883000,1.000000,11.1725
synonymous_variant,ATP2C2,SILENT,NM_001286527.2:p.Leu569Leu/c.1707C>A,ctC/ctA,LOW,,0.998203,1,rs247885,,,,,,chr16,84485573,84485573,C,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu569Leu/c.1707C>A|975|ATP2C2|protein_coding|CODING|NM_001286527.2|18|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu418Leu/c.1254C>A|795|ATP2C2|protein_coding|CODING|NM_001291454.1|15|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu569Leu/c.1707C>A|946|ATP2C2|protein_coding|CODING|NM_014861.3|18|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,ATP2C2,MISSENSE,NM_001286527.2:p.Ala789Gly/c.2366C>G,gCa/gGa,MODERATE,,0.998403,1,rs410388,1(T),0.0(B),,-0.9242(T),,chr16,84493144,84493144,C,G,hom,"missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala789Gly/c.2366C>G|975|ATP2C2|protein_coding|CODING|NM_001286527.2|24|1),intron_variant(MODIFIER|||c.1880+152C>G|795|ATP2C2|protein_coding|CODING|NM_001291454.1|20|1),intron_variant(MODIFIER|||c.2333+152C>G|946|ATP2C2|protein_coding|CODING|NM_014861.3|23|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,1,0.9986,1,,,,,,1.000(P),-3.18(D),0.0000(T),0.073,-0.401750,1.49,-0.829,-0.216000,-0.645000,0.086000,0.028000,0.000000,0.000000,0.7587
synonymous_variant,ATP2C2,SILENT,NM_001286527.2:p.Pro812Pro/c.2436C>T,ccC/ccT,LOW,,0.472244,0.6349,rs2241640,,,,,,chr16,84494275,84494275,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro812Pro/c.2436C>T|975|ATP2C2|protein_coding|CODING|NM_001286527.2|25|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro632Pro/c.1896C>T|795|ATP2C2|protein_coding|CODING|NM_001291454.1|21|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro783Pro/c.2349C>T|946|ATP2C2|protein_coding|CODING|NM_014861.3|24|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4121,0.5043,0.4304,0.43,0.40,0.44,,,,,,,,,,,,,,,,
synonymous_variant,TLDC1,SILENT,NM_020947.3:p.Asn322Asn/c.966C>T,aaC/aaT,LOW,COSM435876(1),0.439497,0.5575,rs433293,,,,,,chr16,84516309,84516309,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn322Asn/c.966C>T|456|TLDC1|protein_coding|CODING|NM_020947.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.5187,0.4205,0.36,0.25,0.42,,,,,,,,,,,,,,,,
synonymous_variant,TLDC1,SILENT,NM_020947.3:p.Gly290Gly/c.870A>G,ggA/ggG,LOW,,0.636182,0.8978,rs431389,,,,,,chr16,84520325,84520325,T,C,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly290Gly/c.870A>G|456|TLDC1|protein_coding|CODING|NM_020947.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7863,0.6643,0.4821,0.46,0.45,0.47,,,,,,,,,,,,,,,,
missense_variant,TLDC1,MISSENSE,NM_020947.3:p.Cys267Arg/c.799T>C,Tgc/Cgc,MODERATE,,0.997604,1,rs422145,1(T),"0.0,0.0(B,B)",-2.25(N),-0.9847(T),,chr16,84520396,84520396,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys267Arg/c.799T>C|456|TLDC1|protein_coding|CODING|NM_020947.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.001358(N),0.708(P),"3.38,3.2(T,T)",0.0000(T),0.114,-1.893539,5.18,4.16,-0.215000,1.191000,0.837000,0.008000,0.991000,0.705000,10.1465
missense_variant,TLDC1,MISSENSE,NM_020947.3:p.Ile220Val/c.658A>G,Atc/Gtc,MODERATE,,0.983027,1,rs431818,1(T),"0.0,0.0(B,B)",-0.455(N),-0.9953(T),,chr16,84520537,84520537,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile220Val/c.658A>G|456|TLDC1|protein_coding|CODING|NM_020947.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9856,0.999,0.98,0.95,1.00,,0.024478(N),1.000(P),"3.34,3.17(T,T)",0.0000(T),0.027,-2.299647,4.98,-2.68,-0.213000,-0.844000,-0.439000,0.002000,0.000000,0.003000,5.099
missense_variant,TLDC1,MISSENSE,NM_020947.3:p.Asp172Glu/c.516C>G,gaC/gaG,MODERATE,COSM1128850(4),0.620807,0.8998,rs436278,1(T),"0.0,0.0(B,B)",-2.255(N),-1.0148(T),,chr16,84522897,84522897,G,C,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp172Glu/c.516C>G|456|TLDC1|protein_coding|CODING|NM_020947.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7812,0.6542,0.4612,0.44,0.42,0.45,,0.235695(N),1.000(P),"3.44,3.24(T,T)",0.0000(T),0.065,-0.034215,5.04,3.06,-0.187000,1.127000,0.946000,0.785000,0.994000,0.734000,4.4693
synonymous_variant,KLHL36,SILENT,NM_024731.2:p.Leu211Leu/c.631C>T,Ctg/Ttg,LOW,COSM435878(4),0.213458,0.1756,rs3751762,,,,,,chr16,84691044,84691044,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu211Leu/c.631C>T|616|KLHL36|protein_coding|CODING|NM_024731.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2209,0.2795,0.3439,0.26,0.15,0.32,,,,,,,,,,,,,,,,
synonymous_variant,KLHL36,SILENT,NM_024731.2:p.Leu464Leu/c.1392A>G,ctA/ctG,LOW,COSM435879(2),0.177117,0.0347,rs17755815,,,,,,chr16,84695280,84695280,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu464Leu/c.1392A>G|616|KLHL36|protein_coding|CODING|NM_024731.2|5|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0798,0.1081,0.2068,0.27,0.36,0.23,,,,,,,,,,,,,,,,
synonymous_variant,KLHL36,SILENT,NM_024731.2:p.His534His/c.1602C>T,caC/caT,LOW,COSM3755149(1),0.143371,0.0327,rs12928590,,,,,,chr16,84695490,84695490,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His534His/c.1602C>T|616|KLHL36|protein_coding|CODING|NM_024731.2|5|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0767,0.098,0.2068,0.23,0.25,0.23,,,,,,,,,,,,,,,,
synonymous_variant,USP10,SILENT,NM_001272075.1:p.Asp229Asp/c.687C>T,gaC/gaT,LOW,COSM3755155(2),0.231629,0.4018,rs4553618,,,,,,chr16,84778762,84778762,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp229Asp/c.687C>T|802|USP10|protein_coding|CODING|NM_001272075.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp225Asp/c.675C>T|798|USP10|protein_coding|CODING|NM_005153.2|4|1),intron_variant(MODIFIER|||n.232+11653C>T||USP10||CODING|NR_073577.1|2|1),non_coding_exon_variant(MODIFIER|||n.756C>T||USP10||CODING|NR_073578.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.3934,0.2107,0.17,0.08,0.22,,,,,,,,,,,,,,,,
synonymous_variant,USP10,SILENT,NM_001272075.1:p.Val391Val/c.1173T>G,gtT/gtG,LOW,COSM3755156(1),0.232228,0.4038,rs7185949,,,,,,chr16,84779248,84779248,T,G,het,"synonymous_variant(LOW|SILENT|gtT/gtG|p.Val391Val/c.1173T>G|802|USP10|protein_coding|CODING|NM_001272075.1|5|1),synonymous_variant(LOW|SILENT|gtT/gtG|p.Val387Val/c.1161T>G|798|USP10|protein_coding|CODING|NM_005153.2|4|1),intron_variant(MODIFIER|||n.232+12139T>G||USP10||CODING|NR_073577.1|2|1),non_coding_exon_variant(MODIFIER|||n.1242T>G||USP10||CODING|NR_073578.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.3948,0.2107,0.17,0.08,0.22,,,,,,,,,,,,,,,,
synonymous_variant,USP10,SILENT,NM_001272075.1:p.Pro418Pro/c.1254C>G,ccC/ccG,LOW,,0.0241613,0,rs71386866,,,,,,chr16,84792371,84792371,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro418Pro/c.1254C>G|802|USP10|protein_coding|CODING|NM_001272075.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro414Pro/c.1242C>G|798|USP10|protein_coding|CODING|NM_005153.2|5|1),intron_variant(MODIFIER|||n.1274-1126C>G||USP10||CODING|NR_073578.1|3|1),non_coding_exon_variant(MODIFIER|||n.282C>G||USP10||CODING|NR_073577.1|3|1)","CD4:H3K9me1,H1ESC:H3K36me3,IMR90:H2BK120ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K4ac,IMR90:H3K36me3,IMR90:H3K27ac,CD4:H3K4me1,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3,IMR90:H4K8ac",,,,0.0327,0.0403,0.0577,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,USP10,SILENT,NM_001272075.1:p.Gln525Gln/c.1575A>G,caA/caG,LOW,COSM3999965(1),0.26258,0.4087,rs12932018,,,,,,chr16,84796603,84796603,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln525Gln/c.1575A>G|802|USP10|protein_coding|CODING|NM_001272075.1|10|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln521Gln/c.1563A>G|798|USP10|protein_coding|CODING|NM_005153.2|9|1),non_coding_exon_variant(MODIFIER|||n.603A>G||USP10||CODING|NR_073577.1|7|1),non_coding_exon_variant(MODIFIER|||n.1442A>G||USP10||CODING|NR_073578.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Response_to_mTOR_inhibitor_everolimus,,,0.2883,0.428,0.2525,0.21,0.09,0.27,,,,,,,,,,,,,,,,
synonymous_variant,USP10,SILENT,NM_001272075.1:p.Leu738Leu/c.2214C>G,ctC/ctG,LOW,COSM148135(3),0.435104,0.506,rs774298,,,,,,chr16,84808824,84808824,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu738Leu/c.2214C>G|802|USP10|protein_coding|CODING|NM_001272075.1|14|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu734Leu/c.2202C>G|798|USP10|protein_coding|CODING|NM_005153.2|13|1),non_coding_exon_variant(MODIFIER|||n.1242C>G||USP10||CODING|NR_073577.1|11|1),non_coding_exon_variant(MODIFIER|||n.2081C>G||USP10||CODING|NR_073578.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.3855,0.3818,0.6163,0.53,0.34,0.61,,,,,,,,,,,,,,,,
synonymous_variant,CRISPLD2,SILENT,NM_031476.3:p.Pro157Pro/c.471C>T,ccC/ccT,LOW,COSM4129444(2),0.59385,0.6786,rs8061351,,,,,,chr16,84883102,84883102,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro157Pro/c.471C>T|497|CRISPLD2|protein_coding|CODING|NM_031476.3|4|1),"GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7382,0.6484,0.7326,0.60,0.34,0.74,,,,,,,,,,,,,,,,
missense_variant,CRISPLD2,MISSENSE,NM_031476.3:p.Thr322Ser/c.965C>G,aCt/aGt,MODERATE,COSM148136(3),0.485024,0.6488,rs721005,0.79(T),"0.284,0.108,0.038(B,B,B)",0.67(N),-0.9849(T),,chr16,84906098,84906098,C,G,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr322Ser/c.965C>G|497|CRISPLD2|protein_coding|CODING|NM_031476.3|9|1),"HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4407,0.2911,0.3857,0.44,0.55,0.39,,0.000000(N),0.000(P),-2.44(D),0.0000(T),0.396,-0.062909,5.01,5.01,0.561000,2.481000,5.047000,0.084000,0.202000,0.954000,14.2014
synonymous_variant,CRISPLD2,SILENT,NM_031476.3:p.Ala443Ala/c.1329C>T,gcC/gcT,LOW,COSM435881(1),0.682708,0.8591,rs386612381,,,,,,chr16,84922859,84922859,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala443Ala/c.1329C>T|497|CRISPLD2|protein_coding|CODING|NM_031476.3|14|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6708,0.5692,0.5507,0.59,0.67,0.54,,,,,,,,,,,,,,,,
synonymous_variant,ZDHHC7,SILENT,NM_001145548.1:p.Gly339Gly/c.1017T>C,ggT/ggC,LOW,COSM3755158(2),0.701278,0.63,rs7195377,,,,,,chr16,85009970,85009970,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly339Gly/c.1017T>C|345|ZDHHC7|protein_coding|CODING|NM_001145548.1|9|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly302Gly/c.906T>C|308|ZDHHC7|protein_coding|CODING|NM_017740.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6125,0.7421,0.502,0.64,0.88,0.52,,,,,,,,,,,,,,,,
synonymous_variant,ZDHHC7,SILENT,NM_001145548.1:p.Pro162Pro/c.486C>T,ccC/ccT,LOW,,0.133387,0.1508,rs16975086,,,,,,chr16,85015541,85015541,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro162Pro/c.486C>T|345|ZDHHC7|protein_coding|CODING|NM_001145548.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro125Pro/c.375C>T|308|ZDHHC7|protein_coding|CODING|NM_017740.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1391,0.304,0.1571,0.13,0.04,0.17,,,,,,,,,,,,,,,,
synonymous_variant,FAM92B,SILENT,NM_198491.1:p.Tyr100Tyr/c.300C>T,taC/taT,LOW,,0.0702875,0.002,rs17200833,,,,,,chr16,85141661,85141661,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr100Tyr/c.300C>T|304|FAM92B|protein_coding|CODING|NM_198491.1|3|1),"CD4:H4K91ac,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1247,0.0836,0.1461,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,GSE1,MISSENSE,NM_014615.3:p.Tyr763Asn/c.2287T>A,Tac/Aac,MODERATE,,,,,1(T),"0.988,0.993(D,D)",1.79(L),-0.8903(T),,chr16,85696613,85696613,T,A,het,"missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr659Asn/c.1975T>A|1113|GSE1|protein_coding|CODING|NM_001134473.2|9|1),missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr690Asn/c.2068T>A|1144|GSE1|protein_coding|CODING|NM_001278184.1|9|1),missense_variant(MODERATE|MISSENSE|Tac/Aac|p.Tyr763Asn/c.2287T>A|1217|GSE1|protein_coding|CODING|NM_014615.3|10|1),intron_variant(MODIFIER|||n.18-29232T>A||MIR7851||NON_CODING|NR_107005.1.2|2|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000002(D),1.000(D),"1.38,1.39,1.38(T,T,T)",0.1633(T),0.705,3.335923,5.48,5.48,0.459000,2.091000,7.485000,0.190000,0.806000,1.000000,15.228
synonymous_variant,GSE1,SILENT,NM_014615.3:p.Arg1186Arg/c.3556A>C,Agg/Cgg,LOW,COSM4129449(1),0.681909,0.873,rs9940601,,,,-0.9304(T),,chr16,85706047,85706047,A,C,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg1082Arg/c.3244A>C|1113|GSE1|protein_coding|CODING|NM_001134473.2|15|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg1113Arg/c.3337A>C|1144|GSE1|protein_coding|CODING|NM_001278184.1|15|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg1186Arg/c.3556A>C|1217|GSE1|protein_coding|CODING|NM_014615.3|16|1),intron_variant(MODIFIER|||n.18-19798A>C||MIR7851||NON_CODING|NR_107005.1.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7536,0.5562,0.6044,0.62,0.64,0.62,,,0.000(P),,0.0000(T),.,-1.016584,5.89,-4.9,-2.096000,-1.792000,-0.023000,0.225000,0.001000,0.104000,23.8648
synonymous_variant,GINS2,SILENT,NM_016095.2:p.Thr172Thr/c.516G>A,acG/acA,LOW,,0.3748,0.494,rs1053328,,,,,,chr16,85711860,85711860,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr172Thr/c.516G>A|185|GINS2|protein_coding|CODING|NM_016095.2|5|1),intron_variant(MODIFIER|||n.18-13985C>T||MIR7851||NON_CODING|NR_107005.1.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4468,0.3156,0.3429,0.34,0.30,0.36,,,,,,,,,,,,,,,,
synonymous_variant,COX4I1,SILENT,NM_001861.3:p.Leu62Leu/c.184T>C,Ttg/Ctg,LOW,,0.977037,1,rs111177161,,,,,,chr16,85838653,85838653,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu62Leu/c.184T>C|169|COX4I1|protein_coding|CODING|NM_001861.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,IRF8,SILENT,NM_002163.2:p.Cys138Cys/c.414C>T,tgC/tgT,LOW,,0.0874601,0.001,rs386615059,,,,,,chr16,85945231,85945231,C,T,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys138Cys/c.414C>T|426|IRF8|protein_coding|CODING|NM_002163.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0757,0.1052,0.1302,0.14,0.13,0.14,,,,,,,,,,,,,,,,
missense_variant,MTHFSD,MISSENSE,NM_001159377.1:p.Gly315Arg/c.943G>C,Ggg/Cgg,MODERATE,,0.892772,0.8552,rs3751803,0.75(T),"0.004,0.002,0.001(B,B,B)",-1.15(N),-1.0327(T),,chr16,86565826,86565826,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly315Arg/c.943G>C|383|MTHFSD|protein_coding|CODING|NM_001159377.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly315Arg/c.943G>C|383|MTHFSD|protein_coding|CODING|NM_001159378.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly314Arg/c.940G>C|382|MTHFSD|protein_coding|CODING|NM_001159379.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly295Arg/c.883G>C|363|MTHFSD|protein_coding|CODING|NM_001159380.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly314Arg/c.940G>C|382|MTHFSD|protein_coding|CODING|NM_022764.2|8|1),non_coding_exon_variant(MODIFIER|||n.1064G>C||MTHFSD||CODING|NR_027489.1|9|1),non_coding_exon_variant(MODIFIER|||n.1054G>C||MTHFSD||CODING|NR_027490.1|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8763,0.9092,0.9056,0.90,0.91,0.90,,0.578294(N),1.000(P),"2.46,2.46,2.46,2.46(T,T,T,T)",0.0000(T),0.076,-1.491778,5.16,-0.307,-0.167000,-0.576000,0.399000,0.041000,0.004000,0.028000,6.5494
synonymous_variant,C16orf95,SILENT,NM_001195124.1:p.Thr122Thr/c.366C>T,acC/acT,LOW,,0.173323,0.1875,rs74038425,,,,,,chr16,87344867,87344867,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr122Thr/c.366C>T|239|C16orf95|protein_coding|CODING|NM_001195124.1|4|1),intron_variant(MODIFIER|||c.330+3710C>T|158|C16orf95|protein_coding|CODING|NM_001195125.1|3|1),intron_variant(MODIFIER|||c.285+3710C>T|143|C16orf95|protein_coding|CODING|NM_001256917.1|3|1)",HepG2:H3K36me3,,,,0.3241,0.1196,0.1541,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZCCHC14,SILENT,NM_015144.2:p.His851His/c.2553C>T,caC/caT,LOW,COSM3755170(3),0.147364,0.002,rs1050846,,,,,,chr16,87445363,87445363,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His851His/c.2553C>T|949|ZCCHC14|protein_coding|CODING|NM_015144.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0675,0.2161,0.4453,0.33,0.12,0.44,,,,,,,,,,,,,,,,
missense_variant,ZCCHC14,MISSENSE,NM_015144.2:p.Val693Met/c.2077G>A,Gtg/Atg,MODERATE,COSM3765942(3),0.461462,0.3115,rs3748400,0.16(T),"0.997,0.994(D,D)",0.625(N),-1.1026(T),,chr16,87445839,87445839,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val693Met/c.2077G>A|949|ZCCHC14|protein_coding|CODING|NM_015144.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7342,0.5259,0.7594,0.58,0.24,0.76,,0.000012(D),0.235(P),1.77(T),0.0000(T),0.209,3.179118,5.59,4.51,0.563000,1.107000,1.327000,0.967000,1.000000,0.790000,12.1285
synonymous_variant,ZCCHC14,SILENT,NM_015144.2:p.Ala621Ala/c.1863C>T,gcC/gcT,LOW,COSM329616(2),0.459864,0.3095,rs2042395,,,,,,chr16,87446053,87446053,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala621Ala/c.1863C>T|949|ZCCHC14|protein_coding|CODING|NM_015144.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7342,0.5231,0.7565,0.58,0.24,0.76,,,,,,,,,,,,,,,,
missense_variant,ZCCHC14,MISSENSE,NM_015144.2:p.Ile54Val/c.160A>G,Atc/Gtc,MODERATE,COSM3755171(2),0.127196,0.2272,rs11648852,0.56(T),0.002(B),-1.5(N),-0.9067(T),,chr16,87493737,87493737,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile54Val/c.160A>G|949|ZCCHC14|protein_coding|CODING|NM_015144.2|2|1),splice_region_variant(LOW|||c.160A>G|949|ZCCHC14|protein_coding|CODING|NM_015144.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1217,0.1182,0.1183,0.12,0.09,0.13,,0.840201(N),1.000(P),2.43(T),0.0000(T),0.026,-1.284746,5.01,-3.02,-0.290000,-0.381000,0.450000,0.005000,0.020000,0.967000,13.4733
synonymous_variant,JPH3,SILENT,NM_020655.3:p.Ser221Ser/c.663T>C,agT/agC,LOW,COSM3765943(1),0.651757,0.7232,rs918368,,,,,,chr16,87678144,87678144,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser221Ser/c.663T>C|748|JPH3|protein_coding|CODING|NM_020655.3|2|1),non_coding_exon_variant(MODIFIER|||n.377T>C||JPH3||CODING|NR_073379.2|2|1)","H1ESC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6329,0.6873,0.503,0.57,0.68,0.52,,,,,,,,,,,,,,,,
synonymous_variant,JPH3,SILENT,NM_020655.3:p.Ser228Ser/c.684G>A,tcG/tcA,LOW,COSM3755172(2),0.185903,0.3204,rs3751725,,,,,,chr16,87678165,87678165,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser228Ser/c.684G>A|748|JPH3|protein_coding|CODING|NM_020655.3|2|1),non_coding_exon_variant(MODIFIER|||n.398G>A||JPH3||CODING|NR_073379.2|2|1)","H1ESC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1892,0.2291,0.2028,0.18,0.07,0.23,,,,,,,,,,,,,,,,
synonymous_variant,JPH3,SILENT,NM_020655.3:p.Thr256Thr/c.768G>A,acG/acA,LOW,COSM3755173(1),0.102636,0,rs9934222,,,,,,chr16,87678249,87678249,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr256Thr/c.768G>A|748|JPH3|protein_coding|CODING|NM_020655.3|2|1),non_coding_exon_variant(MODIFIER|||n.482G>A||JPH3||CODING|NR_073379.2|2|1)","H1ESC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0521,0.0951,0.1551,0.16,0.17,0.15,,,,,,,,,,,,,,,,
synonymous_variant,JPH3,SILENT,NM_020655.3:p.His624His/c.1872T>C,caT/caC,LOW,COSM435892(1),0.442093,0.2659,rs34767155,,,,,,chr16,87723838,87723838,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His624His/c.1872T>C|748|JPH3|protein_coding|CODING|NM_020655.3|4|1),non_coding_exon_variant(MODIFIER|||n.1586T>C||JPH3||CODING|NR_073379.2|4|1)","H1ESC:H3K36me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3947,0.428,0.3161,0.40,0.62,0.29,,,,,,,,,,,,,,,,
missense_variant,KLHDC4,MISSENSE,NM_017566.3:p.Gly130Val/c.389G>T,gGt/gTt,MODERATE,COSM3755175(1),0.0529153,0.0417,rs34779002,0.18(T),"0.578,0.804,0.642(P,P,P)",0.23(N),-0.9473(T),,chr16,87782396,87782396,C,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly73Val/c.218G>T|463|KLHDC4|protein_coding|CODING|NM_001184854.1|3|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly130Val/c.389G>T|489|KLHDC4|protein_coding|CODING|NM_001184856.1|5|1),missense_variant(MODERATE|MISSENSE|gGt/gTt|p.Gly130Val/c.389G>T|520|KLHDC4|protein_coding|CODING|NM_017566.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.049,0.1153,0.07,0.02,0.10,,0.000003(D),0.000(P),"3.73,2.99,3.52(T,T,T)",0.0004(T),0.549,3.649718,5.27,4.31,-0.305000,1.190000,1.998000,0.952000,0.616000,0.941000,14.3206
synonymous_variant,KLHDC4,SILENT,NM_017566.3:p.Asp111Asp/c.333C>T,gaC/gaT,LOW,,0.0710863,0.0198,rs17699859,,,,,,chr16,87788836,87788836,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp54Asp/c.162C>T|463|KLHDC4|protein_coding|CODING|NM_001184854.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp111Asp/c.333C>T|489|KLHDC4|protein_coding|CODING|NM_001184856.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp111Asp/c.333C>T|520|KLHDC4|protein_coding|CODING|NM_017566.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.0634,0.1143,0.10,0.10,0.10,,,,,,,,,,,,,,,,
missense_variant,KLHDC4,MISSENSE,NM_017566.3:p.Thr102Ile/c.305C>T,aCc/aTc,MODERATE,COSM3755177(2),0.407149,0.3403,rs2303771,1(T),"0.001,0.001,0.001(B,B,B)",-1.66(N),-0.9443(T),,chr16,87788864,87788864,G,A,het,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr45Ile/c.134C>T|463|KLHDC4|protein_coding|CODING|NM_001184854.1|2|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr102Ile/c.305C>T|489|KLHDC4|protein_coding|CODING|NM_001184856.1|4|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr102Ile/c.305C>T|520|KLHDC4|protein_coding|CODING|NM_017566.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5266,0.4481,0.3539,0.36,0.38,0.35,,0.000000(N),1.000(P),"1.1,1.1,-0.16(T,T,T)",0.0000(T),0.368,-1.635015,5.12,1.51,-0.361000,-0.011000,4.201000,0.048000,0.068000,1.000000,9.2513
missense_variant,KLHDC4,MISSENSE,NM_017566.3:p.Leu56Val/c.166C>G,Ctt/Gtt,MODERATE,COSM3755178(1),0.076278,0.0188,rs2303772,0.38(T),"0.005,0.005(B,B)",-1.32(N),-1.0866(T),,chr16,87795580,87795580,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu56Val/c.166C>G|489|KLHDC4|protein_coding|CODING|NM_001184856.1|2|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu56Val/c.166C>G|520|KLHDC4|protein_coding|CODING|NM_017566.3|2|1),intron_variant(MODIFIER|||c.99+3818C>G|463|KLHDC4|protein_coding|CODING|NM_001184854.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.0634,0.1123,0.10,0.11,0.10,,0.000042(D),1.000(P),"-0.46,3.24(T,T)",0.0013(T),0.112,-2.962716,4.12,1.82,-3.255000,-0.232000,1.245000,0.002000,0.000000,0.130000,7.4337
synonymous_variant,BANP,SILENT,NM_001173543.1:p.Val94Val/c.282C>T,gtC/gtT,LOW,,0.58726,0.5218,rs3815820,,,,,,chr16,88017809,88017809,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val102Val/c.306C>T|505|BANP|protein_coding|CODING|NM_001173539.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val108Val/c.324C>T|497|BANP|protein_coding|CODING|NM_001173540.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val102Val/c.306C>T|466|BANP|protein_coding|CODING|NM_001173541.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val102Val/c.306C>T|508|BANP|protein_coding|CODING|NM_001173542.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val102Val/c.306C>T|469|BANP|protein_coding|CODING|NM_017869.3|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val102Val/c.306C>T|491|BANP|protein_coding|CODING|NM_079837.2|4|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val94Val/c.282C>T|519|BANP|protein_coding|CODING|NM_001173543.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3272,0.7017,0.6133,,,,,,,,,,,,,,,,,,,
synonymous_variant,BANP,SILENT,NM_001173543.1:p.Leu253Leu/c.759C>A,ctC/ctA,LOW,COSM3755184(2),0.580471,0.5159,rs7499814,,,,,,chr16,88052161,88052161,C,A,het,"synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu261Leu/c.783C>A|505|BANP|protein_coding|CODING|NM_001173539.1|7|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu228Leu/c.684C>A|497|BANP|protein_coding|CODING|NM_001173540.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu222Leu/c.666C>A|466|BANP|protein_coding|CODING|NM_001173541.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu261Leu/c.783C>A|508|BANP|protein_coding|CODING|NM_001173542.1|7|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu253Leu/c.759C>A|519|BANP|protein_coding|CODING|NM_001173543.1|7|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu222Leu/c.666C>A|469|BANP|protein_coding|CODING|NM_017869.3|6|1),synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu222Leu/c.666C>A|491|BANP|protein_coding|CODING|NM_079837.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7474,0.5821,0.8072,0.67,0.40,0.81,,,,,,,,,,,,,,,,
synonymous_variant,BANP,SILENT,NM_001173543.1:p.Ile311Ile/c.933C>T,atC/atT,LOW,,0.3748,0.5476,rs74740586,,,,,,chr16,88061150,88061150,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile319Ile/c.957C>T|505|BANP|protein_coding|CODING|NM_001173539.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile286Ile/c.858C>T|497|BANP|protein_coding|CODING|NM_001173540.1|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile280Ile/c.840C>T|466|BANP|protein_coding|CODING|NM_001173541.1|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile319Ile/c.957C>T|508|BANP|protein_coding|CODING|NM_001173542.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile311Ile/c.933C>T|519|BANP|protein_coding|CODING|NM_001173543.1|8|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile280Ile/c.840C>T|469|BANP|protein_coding|CODING|NM_017869.3|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile280Ile/c.840C>T|491|BANP|protein_coding|CODING|NM_079837.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.274,0.4496,0.2674,0.28,0.34,0.24,,,,,,,,,,,,,,,,
missense_variant,BANP,MISSENSE,NM_001173543.1:p.Pro348Ser/c.1042C>T,Ccg/Tcg,MODERATE,,0.184305,0.1349,rs74992447,0.73(T),"0.0,0.0,0.0,0.0,0.0,0.001(B,B,B,B,B,B)",-0.345(N),-1.0216(T),,chr16,88066717,88066717,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro356Ser/c.1066C>T|505|BANP|protein_coding|CODING|NM_001173539.1|9|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro323Ser/c.967C>T|497|BANP|protein_coding|CODING|NM_001173540.1|8|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro317Ser/c.949C>T|466|BANP|protein_coding|CODING|NM_001173541.1|8|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro356Ser/c.1066C>T|508|BANP|protein_coding|CODING|NM_001173542.1|9|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro348Ser/c.1042C>T|519|BANP|protein_coding|CODING|NM_001173543.1|9|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro317Ser/c.949C>T|469|BANP|protein_coding|CODING|NM_017869.3|8|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro317Ser/c.949C>T|491|BANP|protein_coding|CODING|NM_079837.2|8|1),splice_region_variant(LOW|||c.1066C>T|505|BANP|protein_coding|CODING|NM_001173539.1|9|1),splice_region_variant(LOW|||c.967C>T|497|BANP|protein_coding|CODING|NM_001173540.1|8|1),splice_region_variant(LOW|||c.949C>T|466|BANP|protein_coding|CODING|NM_001173541.1|8|1),splice_region_variant(LOW|||c.1066C>T|508|BANP|protein_coding|CODING|NM_001173542.1|9|1),splice_region_variant(LOW|||c.1042C>T|519|BANP|protein_coding|CODING|NM_001173543.1|9|1),splice_region_variant(LOW|||c.949C>T|469|BANP|protein_coding|CODING|NM_017869.3|8|1),splice_region_variant(LOW|||c.949C>T|491|BANP|protein_coding|CODING|NM_079837.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3988,0.0735,0.1243,0.12,0.16,0.10,,0.086754(N),0.998(P),,0.0001(T),0.066,-1.671606,3.75,2.65,0.305000,0.625000,1.255000,0.171000,0.998000,1.000000,7.0763
synonymous_variant,BANP,SILENT,NM_001173543.1:p.Ala465Ala/c.1395G>A,gcG/gcA,LOW,COSM3749387(6),0.454872,0.3016,rs386615047,,,,,,chr16,88105725,88105725,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala451Ala/c.1353G>A|505|BANP|protein_coding|CODING|NM_001173539.1|12|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala443Ala/c.1329G>A|497|BANP|protein_coding|CODING|NM_001173540.1|12|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala412Ala/c.1236G>A|466|BANP|protein_coding|CODING|NM_001173541.1|11|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala454Ala/c.1362G>A|508|BANP|protein_coding|CODING|NM_001173542.1|12|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala465Ala/c.1395G>A|519|BANP|protein_coding|CODING|NM_001173543.1|13|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala415Ala/c.1245G>A|469|BANP|protein_coding|CODING|NM_017869.3|11|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala437Ala/c.1311G>A|491|BANP|protein_coding|CODING|NM_079837.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4847,0.3804,0.5388,0.54,0.55,0.54,,,,,,,,,,,,,,,,
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Ser357Pro/c.1069T>C,Tcc/Ccc,MODERATE,COSM4129466(1),0.989018,1,rs11648572,0.52(T),0.0(B),-0.205(N),-1.0537(T),,chr16,88494947,88494947,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser357Pro/c.1069T>C|3925|ZNF469|protein_coding|CODING|NM_001127464.1|1|1),"H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9959,0.9827,0.9682,,,,,,1.000(P),3.3(T),0.0000(T),0.067,-0.816136,4.6,-0.624,-1.473000,-0.226000,-0.443000,0.002000,0.000000,0.000000,4.3808
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Arg366Ser/c.1098A>C,agA/agC,MODERATE,,0.855032,0.9147,rs11640794,1(T),0.0(B),0(N),-0.9936(T),,chr16,88494976,88494976,A,C,hom,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg366Ser/c.1098A>C|3925|ZNF469|protein_coding|CODING|NM_001127464.1|1|1),"H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9847,0.9424,0.9453,,,,,,1.000(P),3.61(T),0.0000(T),0.04,-0.031218,4.6,0.792,-0.648000,0.325000,0.562000,0.285000,0.657000,0.925000,4.2752
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Gly510Ala/c.1529G>C,gGc/gCc,MODERATE,COSM3755187(2),0.991613,0.996,rs7199961,0.66(T),0.0(B),-0.345(N),-1.0331(T),,chr16,88495407,88495407,G,C,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly510Ala/c.1529G>C|3925|ZNF469|protein_coding|CODING|NM_001127464.1|1|1),"H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.9928,0.9971,0.996,,,,,,1.000(P),2.54(T),0.0000(T),0.043,-0.547375,4.88,-1.03,-0.647000,-0.814000,0.152000,0.021000,0.000000,0.000000,8.8169
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Pro592Pro/c.1776A>G,ccA/ccG,LOW,COSM4129467(1),0.8748,0.9157,rs12927001,,,,,,chr16,88495654,88495654,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro592Pro/c.1776A>G|3925|ZNF469|protein_coding|CODING|NM_001127464.1|1|1),"H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9847,0.9438,0.9453,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Pro710Pro/c.2130T>C,ccT/ccC,LOW,COSM4129468(1),0.604433,0.6052,rs12918876,,,,,,chr16,88496008,88496008,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro710Pro/c.2130T>C|3925|ZNF469|protein_coding|CODING|NM_001127464.1|1|1),"H1ESC:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7761,0.7161,0.7495,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Ile1051Ile/c.3153T>C,atT/atC,LOW,,1,1,rs9924504,,,,,,chr16,88497031,88497031,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1051Ile/c.3153T>C|3925|ZNF469|protein_coding|CODING|NM_001127464.1|1|1),"CD4:H3K18ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:Gabp,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:DNase1,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Pro1146Pro/c.3438G>A,ccG/ccA,LOW,COSM3755189(7),0.902556,1,rs9938800,,,,,,chr16,88497400,88497400,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1146Pro/c.3438G>A|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"CD4:H3K18ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:Gabp,GM12878:ELF1,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,K562:DNase1",,,,0.9908,0.9597,0.9771,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Lys1162Glu/c.3484A>G,Aag/Gag,MODERATE,COSM3755190(2),0.81889,0.9444,rs7197071,1(T),0.012(B),0.345(N),-0.9735(T),,chr16,88497446,88497446,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1162Glu/c.3484A>G|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"CD4:H3K18ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:Gabp,GM12878:ELF1,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.9387,0.9207,0.9344,0.81,0.56,0.92,,,1.000(P),3.12(T),0.0000(T),0.052,2.705532,4.0,-2.95,0.260000,-0.425000,-0.304000,0.370000,0.002000,0.000000,7.3727
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Pro1420Leu/c.4259C>T,cCg/cTg,MODERATE,COSM3755191(1),0.844249,0.8601,rs4782300,1(T),0.0(B),-0.55(N),-1.0202(T),,chr16,88498221,88498221,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro1420Leu/c.4259C>T|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8364,0.9207,0.8946,0.88,0.79,0.92,,,0.892(P),4.47(T),0.0000(T),0.043,0.667823,4.79,3.69,-0.361000,0.210000,2.711000,0.243000,0.886000,1.000000,7.3001
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Ser1445Ser/c.4335T>G,tcT/tcG,LOW,COSM4129472(1),0.846446,0.9514,rs12445417,,,,,,chr16,88498297,88498297,T,G,hom,synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser1445Ser/c.4335T>G|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9857,0.9467,0.9801,0.84,0.54,0.97,,,,,,,,,,,,,,,,
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Thr1859Thr/c.5577C>G,acC/acG,LOW,COSM435898(1),0.779553,0.8591,rs9931465,,,,,,chr16,88499539,88499539,C,G,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr1859Thr/c.5577C>G|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8446,0.9049,0.9046,0.82,0.56,0.93,,,,,,,,,,,,,,,,
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Leu2670Gln/c.8009T>A,cTg/cAg,MODERATE,COSM3755192(1),0.294329,0.4028,rs3812956,0.31(T),0.001(B),-0.345(N),-0.9029(T),,chr16,88501971,88501971,T,A,het,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu2670Gln/c.8009T>A|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2168,0.3473,0.3728,0.34,0.22,0.39,,,1.000(P),3.45(T),0.0000(T),0.101,0.063439,3.23,-6.47,-1.156000,-2.507000,-1.057000,0.000000,0.000000,0.000000,0.6077
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Asp2749Val/c.8246A>T,gAc/gTc,MODERATE,COSM3765944(1),0.0435304,0.0427,rs3812954,0.03(D),0.261(B),0.55(N),-0.9640(T),,chr16,88502208,88502208,A,T,het,missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp2749Val/c.8246A>T|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0378,0.0432,0.0984,0.06,0.01,0.08,,,1.000(P),3.18(T),0.0006(T),0.375,1.580640,4.56,2.24,0.459000,0.136000,-0.155000,0.021000,0.001000,0.000000,5.1164
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Arg2840Arg/c.8520C>T,cgC/cgT,LOW,COSM435901(4),0.470048,0.4514,rs3812953,,,,,,chr16,88502482,88502482,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg2840Arg/c.8520C>T|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6217,0.5231,0.4682,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.His2848Arg/c.8543A>G,cAt/cGt,MODERATE,,0.996206,1,rs1983014,1(T),0.0(B),-0.805(N),-0.9457(T),,chr16,88502505,88502505,A,G,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His2848Arg/c.8543A>G|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,0.98,1.00,,,1.000(P),1.32(T),0.0000(T),0.059,0.292362,5.01,4.05,-0.215000,0.527000,4.799000,0.004000,0.008000,0.944000,10.7701
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Glu3630Gln/c.10888G>C,Gag/Cag,MODERATE,,0.390974,0.38,rs1105066,0.09(T),0.117(B),0.695(N),-0.9636(T),,chr16,88504850,88504850,G,C,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu3630Gln/c.10888G>C|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2178,0.3818,0.3926,0.45,0.53,0.42,,,1.000(P),2.93(T),0.0000(T),0.081,1.079583,4.65,1.33,0.561000,0.950000,-0.519000,0.019000,0.122000,0.000000,6.1191
missense_variant,ZNF469,MISSENSE,NM_001127464.1:p.Thr3636Ala/c.10906A>G,Acc/Gcc,MODERATE,COSM4129476(1),0.999201,1,rs904783,0.02(D),0.0(B),0(N),-1.0295(T),,chr16,88504868,88504868,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr3636Ala/c.10906A>G|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,1,1.00,1.00,1.00,,,1.000(P),3.44(T),0.0000(T),0.013,0.978424,4.89,-4.76,-0.938000,-0.724000,-1.397000,0.024000,0.001000,0.000000,2.9249
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Pro3891Pro/c.11673A>G,ccA/ccG,LOW,,0.796326,0.7748,rs4782301,,,,,,chr16,88505635,88505635,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3891Pro/c.11673A>G|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"HepG2:Nrsf,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:Nrsf,K562:Nrsf,HepG2:H3K27me3,GM12878:Nrsf",,,,0.82,0.8473,0.7624,0.78,0.80,0.77,,,,,,,,,,,,,,,,
synonymous_variant,ZNF469,SILENT,NM_001127464.1:p.Ser3924Ser/c.11772C>T,tcC/tcT,LOW,,0.98722,1,rs4782362,,,,,,chr16,88505734,88505734,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser3924Ser/c.11772C>T|3925|ZNF469|protein_coding|CODING|NM_001127464.1|2|1),"HepG2:Nrsf,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:Nrsf,K562:Nrsf,HepG2:H3K27me3,GM12878:Nrsf",,,,1,0.9928,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
missense_variant,ZFPM1,MISSENSE,NM_153813.2:p.Arg22Gly/c.64A>G,Aga/Gga,MODERATE,COSM4129478(1),0.533746,0.4891,rs3751673,1(T),0.0(B),-1.5(N),-0.9647(T),,chr16,88552370,88552370,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg22Gly/c.64A>G|1006|ZFPM1|protein_coding|CODING|NM_153813.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4591,0.5634,0.3588,0.48,0.69,0.38,,0.048037(N),1.000(P),3.3(T),0.0000(T),0.013,-0.236090,3.77,-5.43,-1.945000,-1.708000,-1.363000,0.206000,0.002000,0.000000,4.7628
synonymous_variant,ZFPM1,SILENT,NM_153813.2:p.Pro571Pro/c.1713C>G,ccC/ccG,LOW,COSM3755194(5),0.917532,1,rs13335396,,,,,,chr16,88600079,88600079,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro571Pro/c.1713C>G|1006|ZFPM1|protein_coding|CODING|NM_153813.2|10|1),"HeLa-S3:DNase1,H1ESC:H3K9ac,K562:H3K36me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,HepG2:H3K36me3,CD4:PolII,HeLa-S3:E2F1",,,,1,0.9798,0.999,0.93,0.80,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ZFPM1,SILENT,NM_153813.2:p.Pro787Pro/c.2361C>G,ccC/ccG,LOW,,0.00219649,0,,,,,,,chr16,88600727,88600727,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro787Pro/c.2361C>G|1006|ZFPM1|protein_coding|CODING|NM_153813.2|10|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,CD4:CTCF,HepG2:H3K36me3,CD4:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.0082,0,0.002,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZC3H18,SILENT,NM_001294340.1:p.Lys158Lys/c.474A>G,aaA/aaG,LOW,COSM3755195(1),0.862819,0.9405,rs899728,,,,,,chr16,88644005,88644005,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys158Lys/c.474A>G|977|ZC3H18|protein_coding|CODING|NM_001294340.1|2|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys158Lys/c.474A>G|953|ZC3H18|protein_coding|CODING|NM_144604.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7157,0.9179,0.9105,0.89,0.85,0.91,,,,,,,,,,,,,,,,
missense_variant,CYBA,MISSENSE,NM_000101.3:p.Tyr72His/c.214T>C,Tac/Cac,MODERATE,COSM3755197(1),0.664337,0.9157,rs386594564,0.45(T),0.999(D),2.47(M),-0.9169(T),,chr16,88713236,88713236,A,G,hom,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr72His/c.214T>C|195|CYBA|protein_coding|CODING|NM_000101.3|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000002351.1,,0.6247,0.6931,0.6581,0.62,0.55,0.66,,0.000050(N),0.046(P),-2.1(D),0.0000(T),0.556,2.225798,4.55,3.46,0.448000,0.616000,4.415000,0.205000,0.970000,1.000000,8.0663
synonymous_variant,CYBA,SILENT,NM_000101.3:p.Glu12Glu/c.36A>G,gaA/gaG,LOW,COSM4129484(1),0.995607,1,rs8053867,,,,,,chr16,88717386,88717386,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu12Glu/c.36A>G|195|CYBA|protein_coding|CODING|NM_000101.3|1|1),downstream_gene_variant(MODIFIER||962||400|MVD|protein_coding|CODING|NM_002461.1||1)","K562:ZBTB7A,H1ESC:PolII,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:USF1,CD4:H4K20me1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,GM12878:ZEB1,K562:Cmyc,HeLa-S3:PolII,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,1,0.9971,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MVD,SILENT,NM_002461.1:p.Arg78Arg/c.232C>A,Cgg/Agg,LOW,COSM3755198(5),0.498403,0.6438,rs2279258,,,,,,chr16,88724347,88724347,G,T,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg78Arg/c.232C>A|400|MVD|protein_coding|CODING|NM_002461.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.7089,0.6441,0.55,0.34,0.66,,,,,,,,,,,,,,,,
synonymous_variant,RNF166,SILENT,NM_178841.3:p.Leu71Leu/c.213C>G,ctC/ctG,LOW,COSM4129485(1),0.388379,0.3194,rs2306049,,,,,,chr16,88767769,88767769,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu71Leu/c.213C>G|237|RNF166|protein_coding|CODING|NM_178841.3|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||128|RNF166|protein_coding|CODING|NM_001171816.1|2|1),5_prime_UTR_variant(MODIFIER||1644|c.-115C>G|128|RNF166|protein_coding|CODING|NM_001171816.1|2|1),intron_variant(MODIFIER|||c.115-1674C>G|156|RNF166|protein_coding|CODING|NM_001171815.1|1|1)","H1ESC:H3K36me3,K562:Max,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,K562:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,GM12878:ELF1,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,GM12878:EBF,GM12878:Pbx3,GM12878:PolII,NHEK:H3K36me3,CD4:H3K4ac,CD4:PolII,HUVEC:H3K4me1,HUVEC:H3K27ac,CD4:HDAC1,HepG2:DNase1,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,K562:DNase1",,,,0.3947,0.4265,0.5417,0.49,0.34,0.57,,,,,,,,,,,,,,,,
missense_variant,CTU2,MISSENSE,NM_001012759.1:p.Met253Val/c.757A>G,Atg/Gtg,MODERATE,COSM4129487(1),0.452676,0.6637,rs11549837,0.71(T),"0.0,0.0,0.0(B,B,B)",-2.135(N),-1.0082(T),,chr16,88779739,88779739,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met253Val/c.757A>G|515|CTU2|protein_coding|CODING|NM_001012759.1|8|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met253Val/c.757A>G|485|CTU2|protein_coding|CODING|NM_001012762.1|8|1)","K562:ZBTB7A,H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.3834,0.4308,0.3439,0.37,0.42,0.34,,0.118787(N),0.999(P),"2.48,2.48,2.48(T,T,T)",0.0000(T),0.032,-1.128461,5.04,1.54,-0.177000,0.492000,0.845000,0.760000,0.986000,0.000000,4.674
missense_variant,CTU2,MISSENSE,NM_001012759.1:p.Val332Ile/c.994G>A,Gtc/Atc,MODERATE,COSM3737992(1),0.0393371,0,rs4782321,0.63(T),"0.004,0.006,0.005(B,B,B)",-0.475(N),-1.0419(T),,chr16,88780175,88780175,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val332Ile/c.994G>A|515|CTU2|protein_coding|CODING|NM_001012759.1|9|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val332Ile/c.994G>A|485|CTU2|protein_coding|CODING|NM_001012762.1|9|1),downstream_gene_variant(MODIFIER||1571||2521|PIEZO1|protein_coding|CODING|NM_001142864.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0375,0.1282,0.10,0.04,0.14,,0.075058(N),1.000(P),"0.95,0.95,0.95(T,T,T)",0.0002(T),0.049,-0.326271,4.96,-5.78,-0.302000,-1.464000,-0.746000,0.168000,0.000000,0.000000,3.8935
missense_variant,CTU2,MISSENSE,NM_001012759.1:p.Gln416Arg/c.1247A>G,cAg/cGg,MODERATE,COSM1479164(5),0.321885,0.6647,rs386615099,0.17(T),"0.013,0.021,0.009(B,B,B)",1.65(L),-0.9787(T),,chr16,88781040,88781040,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln416Arg/c.1247A>G|515|CTU2|protein_coding|CODING|NM_001012759.1|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln416Arg/c.1247A>G|485|CTU2|protein_coding|CODING|NM_001012762.1|12|1),downstream_gene_variant(MODIFIER||706||2521|PIEZO1|protein_coding|CODING|NM_001142864.2||1),downstream_gene_variant(MODIFIER||1646|||MIR4722||NON_CODING|NR_039873.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2536,0.3746,0.1958,0.19,0.20,0.19,,0.000019(D),1.000(P),"0.65,0.65,0.65(T,T,T)",0.0000(T),0.327,1.258563,4.32,1.86,0.379000,0.108000,-0.277000,0.048000,0.077000,0.004000,4.6795
missense_variant,CTU2,MISSENSE,NM_001012759.1:p.Arg427Gln/c.1280G>A,cGg/cAg,MODERATE,COSM3755200(1),0.0397364,0,rs11549835,0.55(T),"0.056,0.056,0.025(B,B,B)",0.345(N),-0.9777(T),,chr16,88781073,88781073,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg427Gln/c.1280G>A|515|CTU2|protein_coding|CODING|NM_001012759.1|12|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg427Gln/c.1280G>A|485|CTU2|protein_coding|CODING|NM_001012762.1|12|1),downstream_gene_variant(MODIFIER||673||2521|PIEZO1|protein_coding|CODING|NM_001142864.2||1),downstream_gene_variant(MODIFIER||1613|||MIR4722||NON_CODING|NR_039873.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0123,0.0375,0.1292,0.10,0.04,0.14,,0.994048(N),1.000(P),"2.33,2.59,2.59(T,T,T)",0.0001(T),0.144,-0.000621,2.67,0.244,0.462000,-0.031000,0.029000,0.036000,0.001000,0.001000,4.2804
synonymous_variant,CTU2,SILENT,NM_001012759.1:p.Cys444Cys/c.1332T>C,tgT/tgC,LOW,COSM3755205(1),0.871805,0.9405,rs8043637,,,,,,chr16,88781125,88781125,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys444Cys/c.1332T>C|515|CTU2|protein_coding|CODING|NM_001012759.1|12|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys444Cys/c.1332T>C|485|CTU2|protein_coding|CODING|NM_001012762.1|12|1),downstream_gene_variant(MODIFIER||621||2521|PIEZO1|protein_coding|CODING|NM_001142864.2||1),downstream_gene_variant(MODIFIER||1561|||MIR4722||NON_CODING|NR_039873.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8528,0.8689,0.8926,0.89,0.84,0.91,,,,,,,,,,,,,,,,
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Pro2353Pro/c.7059T>C,ccT/ccC,LOW,COSM4129489(1),0.867812,0.9167,rs2290902,,,,,,chr16,88782676,88782676,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2353Pro/c.7059T>C|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|49|1),downstream_gene_variant(MODIFIER||10|||MIR4722||NON_CODING|NR_039873.1||1),downstream_gene_variant(MODIFIER||890||515|CTU2|protein_coding|CODING|NM_001012759.1||1),downstream_gene_variant(MODIFIER||890||485|CTU2|protein_coding|CODING|NM_001012762.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8528,0.8458,0.8946,,,,,,0.000(P),,,.,-1.328822,3.81,-0.413,-4.544000,-0.434000,-0.273000,0.131000,0.803000,0.001000,1.8486
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Leu2214Leu/c.6642G>C,ctG/ctC,LOW,COSM4129492(1),0.685703,0.8313,rs8057031,,,,-1.0366(T),,chr16,88783449,88783449,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu2214Leu/c.6642G>C|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|45|1),upstream_gene_variant(MODIFIER||704|||MIR4722||NON_CODING|NR_039873.1||1),downstream_gene_variant(MODIFIER||1663||515|CTU2|protein_coding|CODING|NM_001012759.1||1),downstream_gene_variant(MODIFIER||1663||485|CTU2|protein_coding|CODING|NM_001012762.1||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5266,0.7176,0.5596,0.63,0.75,0.58,,,0.000(P),,0.0000(T),.,-1.040115,4.54,1.05,-0.216000,-0.209000,0.982000,0.103000,0.992000,1.000000,5.2143
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Pro2190Pro/c.6570A>G,ccA/ccG,LOW,COSM4129493(1),0.891973,0.9256,rs6500491,,,,-1.0941(T),,chr16,88783521,88783521,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro2190Pro/c.6570A>G|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|45|1),upstream_gene_variant(MODIFIER||776|||MIR4722||NON_CODING|NR_039873.1||1),downstream_gene_variant(MODIFIER||1735||515|CTU2|protein_coding|CODING|NM_001012759.1||1),downstream_gene_variant(MODIFIER||1735||485|CTU2|protein_coding|CODING|NM_001012762.1||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8569,0.9107,0.8946,0.91,0.89,0.91,,,0.000(P),,0.0000(T),.,-0.204171,4.68,-9.36,-4.327000,-4.408000,-11.502000,0.527000,0.038000,0.000000,4.9532
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Ala1846Ala/c.5538C>G,gcC/gcG,LOW,,0.852436,0.9325,rs8043924,,,,-1.0412(T),,chr16,88787704,88787704,G,C,hom,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala1846Ala/c.5538C>G|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|39|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7607,0.8487,0.8718,0.88,0.86,0.89,,,1.000(P),,0.0000(T),.,0.476171,4.73,-0.508,-0.382000,-0.592000,-3.648000,0.019000,0.000000,0.000000,2.9033
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Phe1338Phe/c.4014T>C,ttT/ttC,LOW,,0.872604,0.9296,rs4782430,0.72(T),,,-1.0302(T),,chr16,88792047,88792047,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1338Phe/c.4014T>C|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|28|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7771,0.768,0.8718,0.90,0.94,0.89,,0.263037(N),0.032(P),,0.0000(T),.,-0.368158,4.45,1.14,-0.355000,-0.130000,0.317000,0.194000,0.008000,0.080000,8.4582
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Gln955Gln/c.2865G>A,caG/caA,LOW,,0.00479233,0,rs35597347,,,,-0.8422(T),,chr16,88798869,88798869,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln955Gln/c.2865G>A|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|21|1),intron_variant(MODIFIER|||n.269+1013C>T||LOC100289580||NON_CODING|NR_103774.1|1|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0133,0.0058,0.006,,,,,,1.000(D),,0.1357(T),.,1.184225,4.71,4.71,0.472000,2.343000,0.777000,0.844000,1.000000,0.900000,11.2166
missense_variant,PIEZO1,MISSENSE,NM_001142864.2:p.Arg720His/c.2159G>A,cGc/cAc,MODERATE,COSM3755215(2),0.0549121,0,rs35265318,0.12(T),0.143(B),1.525(L),-1.0755(T),,chr16,88800785,88800785,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg720His/c.2159G>A|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|16|1),intron_variant(MODIFIER|||n.269+2929C>T||LOC100289580||NON_CODING|NR_103774.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0375,0.1203,,,,,0.955314(N),1.000(P),0.98(T),0.0006(T),0.232,1.808195,4.7,-0.738,0.491000,-0.291000,-0.437000,0.023000,0.000000,0.000000,8.7612
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Asp710Asp/c.2130C>T,gaC/gaT,LOW,COSM3755216(1),0.0551118,0,rs35353288,,,,-1.0476(T),,chr16,88800814,88800814,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp710Asp/c.2130C>T|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|16|1),intron_variant(MODIFIER|||n.269+2958G>A||LOC100289580||NON_CODING|NR_103774.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0389,0.1203,0.12,0.10,0.13,,,0.000(P),,0.0017(T),.,-0.158016,4.92,2.91,0.491000,1.214000,4.116000,0.203000,0.995000,1.000000,10.6984
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Val677Val/c.2031G>A,gtG/gtA,LOW,COSM3755217(1),0.105431,0,rs34908386,0.3(T),,,-1.1084(T),,chr16,88800913,88800913,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val677Val/c.2031G>A|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|16|1),intron_variant(MODIFIER|||n.269+3057C>T||LOC100289580||NON_CODING|NR_103774.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0504,0.1203,,,,,0.011908(N),0.000(P),,0.0001(T),.,1.473128,4.76,3.72,0.313000,2.371000,0.711000,0.986000,1.000000,1.000000,14.0764
synonymous_variant,PIEZO1,SILENT,NM_001142864.2:p.Leu514Leu/c.1540C>T,Ctg/Ttg,LOW,COSM3755218(2),0.0493211,0,rs78905828,,,,-1.0589(T),,chr16,88802573,88802573,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu514Leu/c.1540C>T|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|12|1),intron_variant(MODIFIER|||n.270-1656G>A||LOC100289580||NON_CODING|NR_103774.1|1|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0346,0.1223,,,,,,0.000(P),,0.0018(T),.,-0.774493,4.73,2.75,0.446000,0.537000,1.683000,0.006000,0.883000,1.000000,10.6691
missense_variant,PIEZO1,MISSENSE,NM_001142864.2:p.Arg407Gly/c.1219A>G,Agg/Ggg,MODERATE,,0.430312,0.7163,rs13333358,,,-0.205(N),-0.9378(T),,chr16,88803124,88803124,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg407Gly/c.1219A>G|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|11|1),intron_variant(MODIFIER|||n.270-1105T>C||LOC100289580||NON_CODING|NR_103774.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2577,0.4625,0.2972,0.35,0.42,0.32,,,1.000(P),,0.0000(T),.,1.813915,5.41,-2.0,0.477000,-0.261000,-0.135000,0.011000,0.000000,0.000000,11.6509
missense_variant,PIEZO1,MISSENSE,NM_001142864.2:p.Val394Leu/c.1180G>C,Gtc/Ctc,MODERATE,,0.757188,0.8889,rs6500493,,,0.55(N),-1.0563(T),,chr16,88803982,88803982,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val394Leu/c.1180G>C|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|10|1),intron_variant(MODIFIER|||n.270-247C>G||LOC100289580||NON_CODING|NR_103774.1|1|1)","K562:ZBTB7A,NHEK:CTCF,K562:Max,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,HUVEC:Max,CD4:DNase1,K562:CTCF,HUVEC:H3K36me3,K562:TFIIIC-110,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:USF1,HSMM:DNase1,K562:Cmyc,IMR90:H3K36me3,CD4:H2BK5me1,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,K562:Cjun,NH-A:CTCF,GM12878:PolII,K562:Egr1,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,GM06990:H3K36me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HepG2:Cmyc,K562:Srf,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.7229,0.7695,0.674,,,,,,1.000(P),,0.0000(T),.,-0.430634,4.17,-7.76,-3.133000,-2.239000,-3.838000,0.001000,0.000000,0.000000,8.2407
missense_variant,PIEZO1,MISSENSE,NM_001142864.2:p.Val250Ala/c.749T>C,gTc/gCc,MODERATE,COSM3765947(1),0.820288,0.9008,rs7184427,0.33(T),0.014(B),0.995(L),-0.9946(T),,chr16,88804734,88804734,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val250Ala/c.749T>C|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|7|1),non_coding_exon_variant(MODIFIER|||n.775A>G||LOC100289580||NON_CODING|NR_103774.1|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6503,0.8228,0.837,0.86,0.88,0.85,,,0.000(P),-0.81(T),0.0000(T),0.12,1.029733,4.78,3.7,0.374000,0.872000,5.784000,0.007000,0.008000,0.971000,9.8831
missense_variant,PIEZO1,MISSENSE,NM_001142864.2:p.Ile83Thr/c.248T>C,aTt/aCt,MODERATE,,0.909345,0.9593,rs6500495,0.6(T),0.0(B),-0.895(N),-0.9754(T),,chr16,88808743,88808743,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile83Thr/c.248T>C|2521|PIEZO1|protein_coding|CODING|NM_001142864.2|3|1),upstream_gene_variant(MODIFIER||432|||LOC339059||NON_CODING|NR_120387.1||1),downstream_gene_variant(MODIFIER||910|||LOC100289580||NON_CODING|NR_103774.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8466,0.9092,0.8569,0.90,0.95,0.88,,,0.000(P),-0.57(T),0.0000(T),0.032,0.150903,4.37,4.37,-0.355000,0.972000,4.107000,0.003000,0.117000,1.000000,12.4115
missense_variant,CDT1,MISSENSE,NM_030928.3:p.Cys234Arg/c.700T>C,Tgc/Cgc,MODERATE,,0.9998,1,rs386421199,1(T),0.0(B),-2.075(N),-0.9721(T),,chr16,88872145,88872145,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys234Arg/c.700T>C|546|CDT1|protein_coding|CODING|NM_030928.3|5|1),"H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116652.2,,1,1,0.999,1.00,1.00,1.00,,0.006976(N),0.106(P),1.7(T),0.0000(T),0.039,-1.681195,4.83,3.83,-0.355000,1.053000,1.022000,0.007000,0.999000,0.978000,9.6496
missense_variant,CDT1,MISSENSE,NM_030928.3:p.Thr262Ala/c.784A>G,Acc/Gcc,MODERATE,COSM3765949(1),0.571286,0.7024,rs480727,0.52(T),0.007(B),0(N),-1.0042(T),,chr16,88872229,88872229,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr262Ala/c.784A>G|546|CDT1|protein_coding|CODING|NM_030928.3|5|1),"H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116654.2,,0.4254,0.5043,0.3897,0.50,0.71,0.38,,0.705131(N),1.000(P),1.84(T),0.0000(T),0.232,-1.252044,4.83,-1.33,-0.355000,-0.900000,-0.763000,0.004000,0.000000,0.000000,5.5378
synonymous_variant,CDT1,SILENT,NM_030928.3:p.His305His/c.915T>C,caT/caC,LOW,COSM3755220(2),0.870208,0.8819,rs510862,,,,,,chr16,88872511,88872511,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His305His/c.915T>C|546|CDT1|protein_coding|CODING|NM_030928.3|6|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,RCV000116655.2,,0.865,0.7767,0.7753,0.85,0.95,0.79,,,,,,,,,,,,,,,,
synonymous_variant,CDT1,SILENT,NM_030928.3:p.Leu529Leu/c.1587C>G,ctC/ctG,LOW,COSM3755221(2),0.552716,0.6637,rs572275,,,,,,chr16,88874632,88874632,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu529Leu/c.1587C>G|546|CDT1|protein_coding|CODING|NM_030928.3|10|1),downstream_gene_variant(MODIFIER||1245||180|APRT|protein_coding|CODING|NM_000485.2||1),downstream_gene_variant(MODIFIER||1245||134|APRT|protein_coding|CODING|NM_001030018.1||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116645.2,,0.3957,0.4942,0.3767,0.48,0.71,0.37,,,,,,,,,,,,,,,,
synonymous_variant,GALNS,SILENT,NM_000512.4:p.Glu477Glu/c.1431G>A,gaG/gaA,LOW,COSM3755225(1),0.474241,0.627,rs2303271,,,,,,chr16,88884466,88884466,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu477Glu/c.1431G>A|522|GALNS|protein_coding|CODING|NM_000512.4|13|1),"H1ESC:H3K36me3,IMR90:H3K4me1,IMR90:H3K36me3,IMR90:H3K27ac,HepG2:H3K27me3",,RCV000079026.1,,0.4172,0.4265,0.3827,0.40,0.47,0.37,,,,,,,,,,,,,,,,
synonymous_variant,GALNS,SILENT,NM_000512.4:p.His236His/c.708C>T,caC/caT,LOW,COSM3755226(1),0.316693,0.5486,rs1064315,,,,,,chr16,88902183,88902183,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His236His/c.708C>T|522|GALNS|protein_coding|CODING|NM_000512.4|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000079044.1,,0.2945,0.2767,0.2724,0.24,0.21,0.26,,,,,,,,,,,,,,,,
missense_variant,PABPN1L,MISSENSE,NM_001080487.2:p.Gly214Asp/c.641G>A,gGc/gAc,MODERATE,COSM1380470(1),0.0205671,0.001,rs76267236,0.06(T),"0.943,0.097(D,B)",2.75(M),-0.4802(T),,chr16,88931274,88931274,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly214Asp/c.641G>A|278|PABPN1L|protein_coding|CODING|NM_001080487.2|5|1),intron_variant(MODIFIER|||c.566+156G>A|255|PABPN1L|protein_coding|CODING|NM_001294328.1|4|1)","H1ESC:DNase1,HepG2:H3K27me3",,,,0.0112,0.0187,0.0726,0.05,0.01,0.07,,0.000001(N),1.000(D),"-1.54,-1.54(D,D)",0.1084(T),0.223,4.063480,5.41,4.46,0.511000,1.273000,3.555000,0.814000,0.538000,1.000000,11.22
synonymous_variant,LOC100129697,SILENT,NM_001290330.1:p.Gly315Gly/c.945A>G,ggA/ggG,LOW,,0.0990415,0.0317,rs200007421,,,,,,chr16,89017471,89017471,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly315Gly/c.945A>G|413|LOC100129697|protein_coding|CODING|NM_001290330.1|2|1),intron_variant(MODIFIER|||c.151+25594T>C|653|CBFA2T3|protein_coding|CODING|NM_005187.5|1|1)","GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1513,0.0778,0.1103,,,,,,,,,,,,,,,,,,,
missense_variant,ACSF3,MISSENSE,NM_001127214.3:p.Leu2Pro/c.5T>C,cTg/cCg,MODERATE,COSM3755227(4),0.624401,0.4841,rs7188200,0.28(T),0.001(B),1.04(L),-0.9984(T),,chr16,89167094,89167094,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu2Pro/c.5T>C|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu2Pro/c.5T>C|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu2Pro/c.5T>C|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1918T>C|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.386T>C||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5235,0.7853,0.7803,,,,,0.006101(N),1.000(P),"0.82,0.39,0.82(T,T,T)",0.0000(T),0.333,0.892749,4.81,-8.23,-2.069000,-2.224000,-1.587000,0.000000,0.000000,0.000000,6.063
missense_variant,ACSF3,MISSENSE,NM_001127214.3:p.Ala17Pro/c.49G>C,Gcg/Ccg,MODERATE,COSM3755228(2),0.0563099,0.1597,rs11547019,0.21(T),0.003(B),1.52(L),-1.0952(T),,chr16,89167138,89167138,G,C,het,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala17Pro/c.49G>C|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala17Pro/c.49G>C|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala17Pro/c.49G>C|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1874G>C|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.430G>C||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0399,0.0317,0.0577,0.03,0.01,0.04,,0.351700(N),1.000(N),"0.81,0.39,0.81(T,T,T)",0.0004(T),0.28,1.870413,5.02,0.452,0.650000,0.149000,-0.170000,0.070000,0.009000,0.000000,2.9079
synonymous_variant,ACSF3,SILENT,NM_001127214.3:p.Ala17Ala/c.51G>C,gcG/gcC,LOW,COSM1380483(7),0.849241,0.6994,rs7201122,,,,,,chr16,89167140,89167140,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala17Ala/c.51G>C|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala17Ala/c.51G>C|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala17Ala/c.51G>C|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1872G>C|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.432G>C||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7464,0.9323,0.9344,0.92,0.92,0.91,,,,,,,,,,,,,,,,
synonymous_variant,ACSF3,SILENT,NM_001127214.3:p.Cys102Cys/c.306C>T,tgC/tgT,LOW,COSM3765950(3),0.61901,0.4821,rs6500526,,,,,,chr16,89167395,89167395,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys102Cys/c.306C>T|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys102Cys/c.306C>T|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys102Cys/c.306C>T|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1617C>T|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.687C>T||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5204,0.7839,0.7793,0.72,0.61,0.78,,,,,,,,,,,,,,,,
synonymous_variant,ACSF3,SILENT,NM_001127214.3:p.Asp105Asp/c.315T>C,gaT/gaC,LOW,COSM3765951(2),0.619808,0.4841,rs7193255,,,,,,chr16,89167404,89167404,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp105Asp/c.315T>C|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp105Asp/c.315T>C|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp105Asp/c.315T>C|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1608T>C|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.696T>C||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.7853,0.7803,0.72,0.61,0.78,,,,,,,,,,,,,,,,
synonymous_variant,ACSF3,SILENT,NM_001127214.3:p.Ala114Ala/c.342G>C,gcG/gcC,LOW,COSM4129507(1),0.619808,0.4821,rs6500527,,,,,,chr16,89167431,89167431,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala114Ala/c.342G>C|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala114Ala/c.342G>C|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala114Ala/c.342G>C|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1581G>C|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.723G>C||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.7853,0.7793,0.72,0.61,0.78,,,,,,,,,,,,,,,,
synonymous_variant,ACSF3,SILENT,NM_001127214.3:p.Ser118Ser/c.354T>C,agT/agC,LOW,COSM3765952(3),0.619808,0.4821,rs6500528,,,,,,chr16,89167443,89167443,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser118Ser/c.354T>C|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser118Ser/c.354T>C|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser118Ser/c.354T>C|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1569T>C|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.735T>C||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5215,0.7853,0.7793,0.73,0.62,0.78,,,,,,,,,,,,,,,,
synonymous_variant,ACSF3,SILENT,NM_001127214.3:p.Val123Val/c.369C>A,gtC/gtA,LOW,COSM3765953(3),0.619209,0.4792,rs6500529,,,,,,chr16,89167458,89167458,C,A,hom,"synonymous_variant(LOW|SILENT|gtC/gtA|p.Val123Val/c.369C>A|576|ACSF3|protein_coding|CODING|NM_001127214.3|2|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val123Val/c.369C>A|576|ACSF3|protein_coding|CODING|NM_001243279.2|3|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val123Val/c.369C>A|576|ACSF3|protein_coding|CODING|NM_174917.4|3|1),intron_variant(MODIFIER|||c.-129-1554C>A|311|ACSF3|protein_coding|CODING|NM_001284316.1|1|1),non_coding_exon_variant(MODIFIER|||n.750C>A||ACSF3||CODING|NR_104293.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5225,0.7853,0.7803,,,,,,,,,,,,,,,,,,,
missense_variant,ACSF3,MISSENSE,NM_001127214.3:p.Val372Met/c.1114G>A,Gtg/Atg,MODERATE,COSM435928(3),0.629593,0.4821,rs3743979,,,1.905(M),-0.9917(T),,chr16,89180883,89180883,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val372Met/c.1114G>A|576|ACSF3|protein_coding|CODING|NM_001127214.3|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val372Met/c.1114G>A|576|ACSF3|protein_coding|CODING|NM_001243279.2|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val107Met/c.319G>A|311|ACSF3|protein_coding|CODING|NM_001284316.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val372Met/c.1114G>A|576|ACSF3|protein_coding|CODING|NM_174917.4|6|1),non_coding_exon_variant(MODIFIER|||n.1495G>A||ACSF3||CODING|NR_104293.1|6|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.5603,0.7752,0.7575,0.71,0.62,0.75,,,1.000(P),,0.0000(T),.,1.620982,4.83,-0.274,0.558000,0.153000,0.535000,0.002000,0.000000,0.000000,2.7866
synonymous_variant,CDH15,SILENT,NM_004933.2:p.His58His/c.174C>T,caC/caT,LOW,COSM3999975(2),0.0688898,0.1885,rs2287358,,,,,,chr16,89245955,89245955,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His58His/c.174C>T|814|CDH15|protein_coding|CODING|NM_004933.2|2|1),"HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116617.2,,0.0368,0.0922,0.0517,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CDH15,SILENT,NM_004933.2:p.Asp88Asp/c.264T>C,gaT/gaC,LOW,COSM3773766(2),0.430911,0.8224,rs59865771,,,,,,chr16,89246670,89246670,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp88Asp/c.264T>C|814|CDH15|protein_coding|CODING|NM_004933.2|3|1),"HSMM:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116623.2,,0.4407,0.3141,0.2813,0.27,0.29,0.26,,,,,,,,,,,,,,,,
missense_variant,CDH15,MISSENSE,NM_004933.2:p.Lys584Gln/c.1750A>C,Aag/Cag,MODERATE,COSM4129510(1),0.453075,0.6528,rs75791347,0.48(T),0.003(B),-0.06(N),-0.9644(T),,chr16,89258747,89258747,A,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys584Gln/c.1750A>C|814|CDH15|protein_coding|CODING|NM_004933.2|11|1),"HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HepG2:Nrsf,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,HepG2:SP1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1",,RCV000116618.1,,0.4458,0.3804,0.4304,0.29,0.24,0.31,,0.245167(N),1.000(P),0.43(T),0.0000(T),0.016,-0.178252,4.6,-4.43,-0.675000,-0.999000,-0.609000,0.049000,0.000000,0.000000,3.3286
synonymous_variant,CDH15,SILENT,NM_004933.2:p.Gln657Gln/c.1971A>G,caA/caG,LOW,COSM3755229(3),0.4998,0.8333,rs3815615,,,,,,chr16,89259993,89259993,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln657Gln/c.1971A>G|814|CDH15|protein_coding|CODING|NM_004933.2|12|1),"H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,HUVEC:DNase1,NHEK:H3K27me3,HepG2:DNase1,K562:DNase1",,RCV000116619.2,,0.5143,0.3775,0.4473,0.40,0.34,0.42,,,,,,,,,,,,,,,,
stop_gained,CDH15,NONSENSE,NM_004933.2:p.Tyr788*/c.2364C>A,taC/taA,HIGH,,0.0750799,0.1825,rs2270416,0.43(T),,,,,chr16,89261482,89261482,C,A,het,"stop_gained(HIGH|NONSENSE|taC/taA|p.Tyr788*/c.2364C>A|814|CDH15|protein_coding|CODING|NM_004933.2|14|1),downstream_gene_variant(MODIFIER||687||338|SLC22A31|protein_coding|CODING|NM_001242757.1||1)","HSMM:H3K36me3,HepG2:PolII,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000116622.2,,0.0348,0.0922,0.0507,0.04,0.03,0.04,,,0.105(P),,,.,4.099087,2.5,0.245,-0.363000,-0.259000,-1.517000,0.003000,0.002000,0.000000,2.871
missense_variant,SLC22A31,MISSENSE,NM_001242757.1:p.Ser83Pro/c.247T>C,Tcc/Ccc,MODERATE,,0.342452,0.5089,rs61732365,,,,,,chr16,89265087,89265087,A,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser83Pro/c.247T>C|338|SLC22A31|protein_coding|CODING|NM_001242757.1|4|1),"HepG2:H3K27ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3487,0.2507,0.3091,,,,,,,,,,,,,,,,,,,
missense_variant,SLC22A31,MISSENSE,NM_001242757.1:p.Gly80Glu/c.239G>A,gGg/gAg,MODERATE,,0.0694888,0.1815,rs4785728,,,,,,chr16,89265095,89265095,C,T,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly80Glu/c.239G>A|338|SLC22A31|protein_coding|CODING|NM_001242757.1|4|1),"HepG2:H3K27ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0358,0.0922,0.0517,,,,,,,,,,,,,,,,,,,
missense_variant,SLC22A31,MISSENSE,NM_001242757.1:p.Gly78Val/c.233G>T,gGc/gTc,MODERATE,,0.0834665,0.1806,rs74640353,,,,,,chr16,89265101,89265101,C,"A,T",,"missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly78Val/c.233G>T|338|SLC22A31|protein_coding|CODING|NM_001242757.1|4|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly78Asp/c.233G>A|338|SLC22A31|protein_coding|CODING|NM_001242757.1|4|2)","HepG2:H3K27ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0337,0.0965,0.0517,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC22A31,SILENT,NM_001242757.1:p.Gly31Gly/c.93T>C,ggT/ggC,LOW,,0.479832,0.8403,rs12926888,,,,,,chr16,89265466,89265466,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly31Gly/c.93T>C|338|SLC22A31|protein_coding|CODING|NM_001242757.1|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4571,0.3559,0.3708,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF778,SILENT,NM_001201407.1:p.Leu59Leu/c.177G>A,ctG/ctA,LOW,,0.115216,0.0972,rs12920028,,,,,,chr16,89289624,89289624,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu59Leu/c.177G>A|757|ZNF778|protein_coding|CODING|NM_001201407.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu59Leu/c.177G>A|729|ZNF778|protein_coding|CODING|NM_182531.3|4|1),intron_variant(MODIFIER|||n.456+1033G>A||ZNF778||CODING|NR_037705.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0677,0.0626,0.10,0.18,0.06,,,,,,,,,,,,,,,,
missense_variant,ZNF778,MISSENSE,NM_001201407.1:p.Val199Met/c.595G>A,Gtg/Atg,MODERATE,,0.0413339,0.0694,rs117690401,0.02(D),"0.055,0.025(B,B)",0.895(L),-0.9618(T),,chr16,89293291,89293291,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val199Met/c.595G>A|757|ZNF778|protein_coding|CODING|NM_001201407.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val171Met/c.511G>A|729|ZNF778|protein_coding|CODING|NM_182531.3|6|1),non_coding_exon_variant(MODIFIER|||n.807G>A||ZNF778||CODING|NR_037705.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.036,0.0278,0.03,0.01,0.04,,,1.000(N),"3.4,3.29(T,T)",0.0008(T),0.061,1.161779,1.08,-2.16,-0.700000,-0.526000,.,0.001000,0.000000,.,2.6431
synonymous_variant,ZNF778,SILENT,NM_001201407.1:p.Glu306Glu/c.918A>G,gaA/gaG,LOW,,0.770168,0.8948,rs4785626,,,,,,chr16,89293614,89293614,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu306Glu/c.918A>G|757|ZNF778|protein_coding|CODING|NM_001201407.1|7|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu278Glu/c.834A>G|729|ZNF778|protein_coding|CODING|NM_182531.3|6|1),non_coding_exon_variant(MODIFIER|||n.1130A>G||ZNF778||CODING|NR_037705.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7495,0.9107,0.9254,0.82,0.60,0.92,,,,,,,,,,,,,,,,
missense_variant,ZNF778,MISSENSE,NM_001201407.1:p.Ala345Val/c.1034C>T,gCc/gTc,MODERATE,COSM3999980(2),0.0680911,0.1806,rs72819401,0.21(T),"0.037,0.063(B,B)",1.675(L),-1.0313(T),,chr16,89293730,89293730,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala345Val/c.1034C>T|757|ZNF778|protein_coding|CODING|NM_001201407.1|7|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala317Val/c.950C>T|729|ZNF778|protein_coding|CODING|NM_182531.3|6|1),non_coding_exon_variant(MODIFIER|||n.1246C>T||ZNF778||CODING|NR_037705.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0429,0.0908,0.0517,0.03,0.01,0.04,,,1.000(P),"2.17,2.17(T,T)",0.0001(T),0.046,0.809861,1.13,1.13,0.558000,0.927000,1.012000,0.002000,0.003000,0.016000,5.182
synonymous_variant,ZNF778,SILENT,NM_001201407.1:p.Ala496Ala/c.1488G>A,gcG/gcA,LOW,,0.76877,0.8948,rs4785627,,,,,,chr16,89294184,89294184,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala496Ala/c.1488G>A|757|ZNF778|protein_coding|CODING|NM_001201407.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala468Ala/c.1404G>A|729|ZNF778|protein_coding|CODING|NM_182531.3|6|1),non_coding_exon_variant(MODIFIER|||n.1700G>A||ZNF778||CODING|NR_037705.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7485,0.9063,0.9254,0.81,0.58,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ZNF778,SILENT,NM_001201407.1:p.Thr605Thr/c.1815C>T,acC/acT,LOW,,0.76857,0.8948,rs28638280,,,,,,chr16,89294511,89294511,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr605Thr/c.1815C>T|757|ZNF778|protein_coding|CODING|NM_001201407.1|7|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr577Thr/c.1731C>T|729|ZNF778|protein_coding|CODING|NM_182531.3|6|1),non_coding_exon_variant(MODIFIER|||n.2027C>T||ZNF778||CODING|NR_037705.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7485,0.9063,0.9254,0.81,0.58,0.92,,,,,,,,,,,,,,,,
missense_variant,ZNF778,MISSENSE,NM_001201407.1:p.Tyr701Cys/c.2102A>G,tAt/tGt,MODERATE,,0.0413339,0.0694,rs118093429,0(D),"0.764,0.788(P,P)",2.44(M),-1.0936(T),,chr16,89294798,89294798,A,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr701Cys/c.2102A>G|757|ZNF778|protein_coding|CODING|NM_001201407.1|7|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr673Cys/c.2018A>G|729|ZNF778|protein_coding|CODING|NM_182531.3|6|1),non_coding_exon_variant(MODIFIER|||n.2314A>G||ZNF778||CODING|NR_037705.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.036,0.0278,0.03,0.01,0.04,,,0.999(N),"1.8,1.8(T,T)",0.0098(T),0.103,1.682042,1.21,-0.189,0.378000,-0.061000,0.004000,0.157000,0.005000,0.000000,2.0904
missense_variant,ZNF778,MISSENSE,NM_001201407.1:p.Asn711Asp/c.2131A>G,Aat/Gat,MODERATE,COSM3999982(1),0.0686901,0.1825,rs55974122,0.04(D),"0.0,0.0(B,B)",1.11(L),-0.9916(T),,chr16,89294827,89294827,A,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn711Asp/c.2131A>G|757|ZNF778|protein_coding|CODING|NM_001201407.1|7|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn683Asp/c.2047A>G|729|ZNF778|protein_coding|CODING|NM_182531.3|6|1),non_coding_exon_variant(MODIFIER|||n.2343A>G||ZNF778||CODING|NR_037705.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.044,0.0908,0.0517,0.03,0.01,0.04,,,1.000(P),"2.25,2.25(T,T)",0.0000(T),0.01,0.167248,1.0,-0.308,-0.466000,-0.112000,0.205000,0.002000,0.001000,0.006000,4.2362
missense_variant,ANKRD11,MISSENSE,NM_001256182.1:p.Pro2263Ser/c.6787C>T,Ccc/Tcc,MODERATE,COSM1324227(1),0.0303514,0.0744,rs76793093,0.58(T),0.001(B),0.205(N),-1.0478(T),,chr16,89346163,89346163,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro2263Ser/c.6787C>T|2663|ANKRD11|protein_coding|CODING|NM_001256182.1|10|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro2263Ser/c.6787C>T|2663|ANKRD11|protein_coding|CODING|NM_001256183.1|9|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro2263Ser/c.6787C>T|2663|ANKRD11|protein_coding|CODING|NM_013275.5|9|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0245,0.0507,0.01,0.00,0.02,,0.422636(N),1.000(N),"1.29,1.29(T,T)",0.0059(T),0.045,1.833606,4.96,1.28,-1.568000,0.141000,0.923000,0.000000,0.000000,0.006000,2.8329
missense_variant,ANKRD11,MISSENSE,NM_001256182.1:p.Ala2023Pro/c.6067G>C,Gcc/Ccc,MODERATE,,0.0375399,0.0744,rs60520302,0.22(T),0.029(B),0.345(N),-1.0665(T),,chr16,89346883,89346883,C,G,het,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala2023Pro/c.6067G>C|2663|ANKRD11|protein_coding|CODING|NM_001256182.1|10|1),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala2023Pro/c.6067G>C|2663|ANKRD11|protein_coding|CODING|NM_001256183.1|9|1),missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala2023Pro/c.6067G>C|2663|ANKRD11|protein_coding|CODING|NM_013275.5|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0245,0.0507,0.03,0.02,0.03,,0.764014(N),1.000(N),"1.19,1.19(T,T)",0.0036(T),0.126,-0.784169,0.207,0.207,0.298000,0.293000,0.465000,0.028000,0.026000,0.046000,.
synonymous_variant,ANKRD11,SILENT,NM_001256182.1:p.Gly1644Gly/c.4932G>A,ggG/ggA,LOW,,0.0297524,0.0714,rs72821356,,,,,,chr16,89348018,89348018,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1644Gly/c.4932G>A|2663|ANKRD11|protein_coding|CODING|NM_001256182.1|10|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1644Gly/c.4932G>A|2663|ANKRD11|protein_coding|CODING|NM_001256183.1|9|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1644Gly/c.4932G>A|2663|ANKRD11|protein_coding|CODING|NM_013275.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0245,0.0507,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD11,SILENT,NM_001256182.1:p.Ala1274Ala/c.3822C>T,gcC/gcT,LOW,,0.0297524,0.0714,rs61741725,,,,,,chr16,89349128,89349128,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1274Ala/c.3822C>T|2663|ANKRD11|protein_coding|CODING|NM_001256182.1|10|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1274Ala/c.3822C>T|2663|ANKRD11|protein_coding|CODING|NM_001256183.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1274Ala/c.3822C>T|2663|ANKRD11|protein_coding|CODING|NM_013275.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0245,0.0507,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD11,SILENT,NM_001256182.1:p.Ala1191Ala/c.3573C>G,gcC/gcG,LOW,,0.0299521,0.0714,rs62000377,,,,,,chr16,89349377,89349377,G,C,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala1191Ala/c.3573C>G|2663|ANKRD11|protein_coding|CODING|NM_001256182.1|10|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala1191Ala/c.3573C>G|2663|ANKRD11|protein_coding|CODING|NM_001256183.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala1191Ala/c.3573C>G|2663|ANKRD11|protein_coding|CODING|NM_013275.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0259,0.0507,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD11,SILENT,NM_001256182.1:p.Thr924Thr/c.2772C>T,acC/acT,LOW,,0.763578,0.6161,rs2279349,,,,,,chr16,89350178,89350178,G,A,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr924Thr/c.2772C>T|2663|ANKRD11|protein_coding|CODING|NM_001256182.1|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr924Thr/c.2772C>T|2663|ANKRD11|protein_coding|CODING|NM_001256183.1|9|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr924Thr/c.2772C>T|2663|ANKRD11|protein_coding|CODING|NM_013275.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7577,0.7118,0.8201,0.85,0.86,0.85,,,,,,,,,,,,,,,,
stop_lost,SPG7,MISSENSE,NM_199367.2:p.Ter490Cysext*?/c.1470A>T,tgA/tgT,HIGH,,,,,,,,,,chr16,89603318,89603318,A,T,het,"stop_lost(HIGH|MISSENSE|tgA/tgT|p.Ter490Cysext*?/c.1470A>T|489|SPG7|protein_coding|CODING|NM_199367.2|10|1),intron_variant(MODIFIER|||c.1324+4274A>T|795|SPG7|protein_coding|CODING|NM_003119.3|9|1)","H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),,,.,-0.834505,2.22,-0.54,0.379000,-0.127000,0.236000,0.008000,0.004000,0.002000,2.7742
missense_variant,CPNE7,MISSENSE,NM_014427.4:p.Phe77Leu/c.229T>C,Ttc/Ctc,MODERATE,,0.0930511,0.2143,rs386593736,0.15(T),"0.065,0.012(B,B)",0.97(L),-1.0875(T),,chr16,89644001,89644001,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe77Leu/c.229T>C|633|CPNE7|protein_coding|CODING|NM_014427.4|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe77Leu/c.229T>C|558|CPNE7|protein_coding|CODING|NM_153636.2|2|1)","HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.0675,0.1441,0.0785,0.04,0.01,0.05,,0.000000(D),0.034(P),"-0.99,-0.99(T,T)",0.0001(T),0.443,1.860949,4.48,4.48,0.459000,1.632000,5.789000,0.230000,1.000000,1.000000,12.7544
synonymous_variant,CPNE7,SILENT,NM_014427.4:p.Gly520Gly/c.1560C>T,ggC/ggT,LOW,,0.0870607,0.1181,rs12445560,,,,,,chr16,89661807,89661807,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly520Gly/c.1560C>T|633|CPNE7|protein_coding|CODING|NM_014427.4|16|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly445Gly/c.1335C>T|558|CPNE7|protein_coding|CODING|NM_153636.2|14|1)","H1ESC:H3K36me3,CD4:H4K91ac,CD4:H2BK20ac,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0491,0.2536,0.0855,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,CPNE7,SILENT,NM_014427.4:p.Gly621Gly/c.1863T>C,ggT/ggC,LOW,COSM1380543(2),0.472045,0.8333,rs694285,,,,-1.0189(T),,chr16,89662990,89662990,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly621Gly/c.1863T>C|633|CPNE7|protein_coding|CODING|NM_014427.4|17|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly546Gly/c.1638T>C|558|CPNE7|protein_coding|CODING|NM_153636.2|15|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.3119,0.3963,0.1948,0.29,0.48,0.19,,,1.000(P),,0.0000(T),.,0.297052,3.79,-2.66,-1.103000,-0.392000,-1.151000,0.000000,0.000000,0.000000,5.9551
missense_variant,DPEP1,MISSENSE,NM_001128141.2:p.Glu351Gln/c.1051G>C,Gag/Cag,MODERATE,COSM1749832(1),0.241813,0.3562,rs1126464,0.24(T),0.03(B),1.545(L),-0.9251(T),,chr16,89704365,89704365,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu351Gln/c.1051G>C|411|DPEP1|protein_coding|CODING|NM_001128141.2|10|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu351Gln/c.1051G>C|411|DPEP1|protein_coding|CODING|NM_004413.3|10|1)","NHEK:H3K27me3,IMR90:H3K27me3",,,,0.272,0.3343,0.2505,0.19,0.11,0.23,,0.786374(N),1.000(P),"1.95,1.95,1.95(T,T,T)",0.0000(T),0.07,0.568509,5.53,-5.67,0.556000,-1.064000,-0.055000,0.264000,0.000000,0.000000,2.9533
synonymous_variant,VPS9D1,SILENT,NM_004913.2:p.Val269Val/c.807G>A,gtG/gtA,LOW,COSM435943(1),0.562101,0.4623,rs12920315,,,,,,chr16,89777761,89777761,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val269Val/c.807G>A|631|VPS9D1|protein_coding|CODING|NM_004913.2|9|1),upstream_gene_variant(MODIFIER||503|||VPS9D1-AS1||NON_CODING|NR_036480.1||1)","H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.7965,0.5951,0.5527,0.54,0.51,0.55,,,,,,,,,,,,,,,,
synonymous_variant,VPS9D1,SILENT,NM_004913.2:p.Ile104Ile/c.312T>C,atT/atC,LOW,COSM4129523(1),0.895168,0.7401,rs7206570,,,,,,chr16,89782989,89782989,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile104Ile/c.312T>C|631|VPS9D1|protein_coding|CODING|NM_004913.2|4|1),non_coding_exon_variant(MODIFIER|||n.608A>G||VPS9D1-AS1||NON_CODING|NR_036480.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8957,0.9784,0.9851,0.96,0.91,0.98,,,,,,,,,,,,,,,,
synonymous_variant,VPS9D1,SILENT,NM_004913.2:p.Lys73Lys/c.219G>A,aaG/aaA,LOW,,0.97504,0.999,rs4785706,,,,,,chr16,89783187,89783187,C,T,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys73Lys/c.219G>A|631|VPS9D1|protein_coding|CODING|NM_004913.2|3|1),non_coding_exon_variant(MODIFIER|||n.806C>T||VPS9D1-AS1||NON_CODING|NR_036480.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9856,0.998,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,ZNF276,MISSENSE,NM_001113525.1:p.Trp263Arg/c.787T>C,Tgg/Cgg,MODERATE,COSM1380560(3),0.54353,0.7282,rs6500437,0.81(T),"0.008,0.008(B,B)",1.43(L),-0.9958(T),,chr16,89789898,89789898,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp263Arg/c.787T>C|614|ZNF276|protein_coding|CODING|NM_001113525.1|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp188Arg/c.562T>C|539|ZNF276|protein_coding|CODING|NM_152287.3|4|1),non_coding_exon_variant(MODIFIER|||n.874T>C||ZNF276||CODING|NR_110122.1|4|1),non_coding_exon_variant(MODIFIER|||n.874T>C||ZNF276||CODING|NR_110126.1|4|1),non_coding_exon_variant(MODIFIER|||n.797T>C||ZNF276||CODING|NR_110128.1|4|1),non_coding_exon_variant(MODIFIER|||n.886T>C||ZNF276||CODING|NR_110129.1|4|1)","H1ESC:H3K36me3,K562:PolII,CD4:H2BK5ac,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,CD4:H3K4ac,HMEC:H3K4me1,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5337,0.5562,0.3101,0.37,0.52,0.29,,0.004757(N),0.000(P),"3.44,3.48(T,T)",0.0000(T),0.131,2.558270,5.42,3.13,0.459000,0.861000,1.332000,0.673000,0.961000,0.916000,6.2916
missense_variant,ZNF276,MISSENSE,NM_001113525.1:p.Glu605Asp/c.1815G>C,gaG/gaC,MODERATE,,0.0409345,0.1359,rs17227424,0.18(T),"0.081,0.081,0.081(B,B,B)",0.805(L),-1.0281(T),,chr16,89804624,89804624,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu605Asp/c.1815G>C|614|ZNF276|protein_coding|CODING|NM_001113525.1|11|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu530Asp/c.1590G>C|539|ZNF276|protein_coding|CODING|NM_152287.3|11|1),3_prime_UTR_variant(MODIFIER||385|c.*385C>G|1455|FANCA|protein_coding|CODING|NM_000135.2|43|1),3_prime_UTR_variant(MODIFIER||482|c.*482C>G|1424|FANCA|protein_coding|CODING|NM_001286167.1|43|1),non_coding_exon_variant(MODIFIER|||n.1987G>C||ZNF276||CODING|NR_110122.1|11|1),non_coding_exon_variant(MODIFIER|||n.1870G>C||ZNF276||CODING|NR_110126.1|11|1),non_coding_exon_variant(MODIFIER|||n.1793G>C||ZNF276||CODING|NR_110128.1|11|1),non_coding_exon_variant(MODIFIER|||n.1882G>C||ZNF276||CODING|NR_110129.1|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0086,0.0437,0.03,0.01,0.04,,0.000021(D),1.000(N),"3.34,3.28,3.32(T,T,T)",0.0002(T),0.158,2.555403,5.15,-6.11,-0.367000,-1.082000,-1.039000,0.074000,0.001000,0.000000,15.1585
missense_variant,FANCA,MISSENSE,NM_000135.2:p.Gly809Asp/c.2426G>A,gGt/gAt,MODERATE,COSM435949(2),0.666733,0.9881,rs7195066,0.47(T),"0.0,0.0(B,B)",0(N),-1.0085(T),,chr16,89836323,89836323,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly809Asp/c.2426G>A|1455|FANCA|protein_coding|CODING|NM_000135.2|26|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly809Asp/c.2426G>A|1424|FANCA|protein_coding|CODING|NM_001286167.1|26|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6513,0.5821,0.3221,0.43,0.66,0.31,,0.250384(N),1.000(P),-1.85(D),0.0000(T),0.18,-0.100499,3.13,-0.167,-1.562000,-0.200000,0.305000,0.001000,0.000000,0.000000,2.3692
missense_variant,FANCA,MISSENSE,NM_000135.2:p.Gly501Ser/c.1501G>A,Ggc/Agc,MODERATE,,0.624002,0.8671,rs2239359,1(T),"0.0,0.0(B,B)",-0.755(N),-0.9570(T),,chr16,89849480,89849480,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly501Ser/c.1501G>A|1455|FANCA|protein_coding|CODING|NM_000135.2|16|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly501Ser/c.1501G>A|1424|FANCA|protein_coding|CODING|NM_001286167.1|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5245,0.5821,0.4066,0.48,0.68,0.38,,0.309285(N),1.000(P),-1.65(D),0.0000(T),0.044,-1.467911,5.5,-4.64,-1.234000,-1.689000,-0.038000,0.032000,0.000000,0.000000,14.5434
missense_variant,FANCA,MISSENSE,NM_000135.2:p.Thr266Ala/c.796A>G,Acg/Gcg,MODERATE,,0.690495,0.9871,rs7190823,1(T),"0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",-1.95(N),-1.0013(T),,chr16,89866043,89866043,T,C,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr266Ala/c.796A>G|1455|FANCA|protein_coding|CODING|NM_000135.2|9|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr266Ala/c.796A>G|297|FANCA|protein_coding|CODING|NM_001018112.1|9|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr266Ala/c.796A>G|1424|FANCA|protein_coding|CODING|NM_001286167.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6524,0.6037,0.3956,0.51,0.73,0.39,,0.416735(N),1.000(P),"1.19,1.19,1.19,1.19(T,T,T,T)",0.0000(T),0.339,-0.919409,4.1,1.85,-0.222000,0.381000,0.402000,0.146000,0.078000,0.007000,5.1091
synonymous_variant,SPIRE2,SILENT,NM_032451.1:p.Gln263Gln/c.789A>G,caA/caG,LOW,,0.0754792,0.2708,rs12598737,,,,,,chr16,89920957,89920957,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln263Gln/c.789A>G|714|SPIRE2|protein_coding|CODING|NM_032451.1|5|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0184,0.0259,0.0606,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,MC1R,MISSENSE,NM_002386.3:p.Val60Leu/c.178G>T,Gtg/Ttg,MODERATE,COSM3765964(1),0.0353435,0,rs1805005,,0.951(D),1.275(L),-0.9901(T),,chr16,89985844,89985844,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val60Leu/c.178G>T|317|MC1R|protein_coding|CODING|NM_002386.3|1|1),"HepG2:H3K4me2,GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K36me3",,RCV000015384.24,,0.0072,0.072,0.1123,0.10,0.02,0.13,,0.004187(U),0.008(P),"-0.5,-0.5,-0.5(T,T,T)",0.0080(T),0.424,2.658140,4.86,4.86,0.455000,2.255000,2.424000,0.082000,0.995000,1.000000,16.9746
missense_variant,MC1R,MISSENSE,NM_002386.3:p.Val92Met/c.274G>A,Gtg/Atg,MODERATE,COSM3999988(2),0.0796725,0.2887,rs2228479,,0.034(B),1.32(L),-0.9227(T),,chr16,89985940,89985940,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val92Met/c.274G>A|317|MC1R|protein_coding|CODING|NM_002386.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,HepG2:H3K36me3",,RCV000015378.24|RCV000015379.24,,0.0184,0.0231,0.0686,0.06,0.02,0.09,,0.127063(U),0.946(P),"3.52,3.52,3.52(T,T,T)",0.0000(T),0.149,0.180387,4.86,0.165,-1.360000,0.100000,1.008000,0.182000,0.359000,0.750000,8.2022
synonymous_variant,MC1R,SILENT,NM_002386.3:p.Thr314Thr/c.942A>G,acA/acG,LOW,COSM3999989(2),0.258986,0.2927,rs2228478,,,,,,chr16,89986608,89986608,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr314Thr/c.942A>G|317|MC1R|protein_coding|CODING|NM_002386.3|1|1),upstream_gene_variant(MODIFIER||1809||378|TUBB3|protein_coding|CODING|NM_001197181.1||1)","HepG2:H3K4me2,GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K4me3,HepG2:H3K36me3",,,,0.2117,0.0836,0.0924,0.21,0.41,0.11,,,,,,,,,,,,,,,,
missense_variant,CENPBD1,MISSENSE,NM_145039.3:p.Thr168Ile/c.503C>T,aCa/aTa,MODERATE,COSM1380601(2),0.681909,0.7093,rs4785755,0.18(T),0.03(B),0(N),-1.0374(T),,chr16,90037828,90037828,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr168Ile/c.503C>T|187|CENPBD1|protein_coding|CODING|NM_145039.3|1|1),upstream_gene_variant(MODIFIER||1160|||AFG3L1P||NON_CODING|NR_003226.1||1),upstream_gene_variant(MODIFIER||1160|||AFG3L1P||NON_CODING|NR_003227.1||1),upstream_gene_variant(MODIFIER||1160|||AFG3L1P||NON_CODING|NR_003228.1||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K9ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,K562:H3K79me2,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.7474,0.7983,0.7416,0.67,0.57,0.72,,,1.000(P),0.97(T),0.0000(T),0.079,0.733310,3.76,2.78,0.514000,0.767000,0.298000,0.026000,0.011000,0.000000,8.9993
synonymous_variant,GAS8,SILENT,NM_001481.2:p.Glu199Glu/c.597A>G,gaA/gaG,LOW,,0.264377,0.0079,rs868045,,,,,,chr16,90102835,90102835,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu116Glu/c.348A>G|395|GAS8|protein_coding|CODING|NM_001286205.1|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu7Glu/c.21A>G|286|GAS8|protein_coding|CODING|NM_001286208.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu174Glu/c.522A>G|453|GAS8|protein_coding|CODING|NM_001286209.1|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu199Glu/c.597A>G|478|GAS8|protein_coding|CODING|NM_001481.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2352,0.2493,0.3907,0.40,0.39,0.41,,,,,,,,,,,,,,,,
synonymous_variant,GAS8,SILENT,NM_001481.2:p.Thr465Thr/c.1395A>G,acA/acG,LOW,,0.844249,0.8472,rs3743825,,,,,,chr16,90109711,90109711,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr382Thr/c.1146A>G|395|GAS8|protein_coding|CODING|NM_001286205.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr273Thr/c.819A>G|286|GAS8|protein_coding|CODING|NM_001286208.1|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr440Thr/c.1320A>G|453|GAS8|protein_coding|CODING|NM_001286209.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr465Thr/c.1395A>G|478|GAS8|protein_coding|CODING|NM_001481.2|11|1),intron_variant(MODIFIER|||n.692+345T>C||URAHP||NON_CODING|NR_027335.2|4|1),non_coding_exon_variant(MODIFIER|||n.990T>C||URAHP||NON_CODING|NR_027336.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7853,0.8112,0.7386,0.83,0.96,0.76,,,,,,,,,,,,,,,,
missense_variant,PRDM7,MISSENSE,NM_001098173.1:p.Asp90Glu/c.270T>G,gaT/gaG,MODERATE,,0.390575,0.1905,rs12925933,,0.991(D),1.39(L),-0.9576(T),,chr16,90141355,90141355,A,C,het,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp90Glu/c.270T>G|492|PRDM7|protein_coding|CODING|NM_001098173.1|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5327,0.513,0.6779,0.54,0.24,0.68,,,1.000(P),2.77(T),0.0000(T),0.075,2.832471,1.4,0.141,0.397000,0.019000,1.107000,0.517000,0.017000,1.000000,3.4724
synonymous_variant,DOC2B,SILENT,NM_003585.4:p.Ser273Ser/c.819C>G,tcC/tcG,LOW,,0.724441,0.8591,rs61739713,,,,,,chr17,6115,6115,G,C,hom,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser273Ser/c.819C>G|306|DOC2B|protein_coding|CODING|NM_003585.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7955,0.804,0.7326,0.69,0.58,0.74,,,,,,,,,,,,,,,,
synonymous_variant,DOC2B,SILENT,NM_003585.4:p.Thr259Thr/c.777T>C,acT/acC,LOW,COSM3755743(1),0.735224,0.8591,rs2294076,,,,,,chr17,6157,6157,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr259Thr/c.777T>C|306|DOC2B|protein_coding|CODING|NM_003585.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7955,0.8055,0.7326,0.70,0.61,0.74,,,,,,,,,,,,,,,,
synonymous_variant,RPH3AL,SILENT,NM_001190411.1:p.Ala62Ala/c.186A>C,gcA/gcC,LOW,COSM3766014(3),0.139776,0.0536,rs73971738,,,,,,chr17,171098,171098,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala62Ala/c.186A>C|315|RPH3AL|protein_coding|CODING|NM_001190411.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala62Ala/c.186A>C|286|RPH3AL|protein_coding|CODING|NM_001190412.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala62Ala/c.186A>C|286|RPH3AL|protein_coding|CODING|NM_001190413.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala62Ala/c.186A>C|315|RPH3AL|protein_coding|CODING|NM_006987.3|4|1)","H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1104,0.0893,0.1173,0.17,0.25,0.13,,,,,,,,,,,,,,,,
synonymous_variant,RPH3AL,SILENT,NM_001190411.1:p.Pro49Pro/c.147G>T,ccG/ccT,LOW,COSM3755300(1),0.0690895,0.0288,rs78269977,,,,,,chr17,171137,171137,C,A,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro49Pro/c.147G>T|315|RPH3AL|protein_coding|CODING|NM_001190411.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro49Pro/c.147G>T|286|RPH3AL|protein_coding|CODING|NM_001190412.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro49Pro/c.147G>T|286|RPH3AL|protein_coding|CODING|NM_001190413.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro49Pro/c.147G>T|315|RPH3AL|protein_coding|CODING|NM_006987.3|4|1)","H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0859,0.0562,0.0835,0.09,0.08,0.10,,,,,,,,,,,,,,,,
synonymous_variant,LOC100506388,SILENT,NM_001242780.1:p.His42His/c.126T>C,caT/caC,LOW,,0.842452,0.9444,rs12953074,,,,,,chr17,181474,181474,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His42His/c.126T>C|127|LOC100506388|protein_coding|CODING|NM_001242780.1|1|1),intron_variant(MODIFIER|||c.-37+2076A>G|286|RPH3AL|protein_coding|CODING|NM_001190412.1|2|1),intron_variant(MODIFIER|||c.-37+2076A>G|315|RPH3AL|protein_coding|CODING|NM_006987.3|2|1),intron_variant(MODIFIER|||c.-36-4104A>G|315|RPH3AL|protein_coding|CODING|NM_001190411.1|1|1),intron_variant(MODIFIER|||c.-36-4104A>G|286|RPH3AL|protein_coding|CODING|NM_001190413.1|1|1),non_coding_exon_variant(MODIFIER|||n.479T>C||LOC100506388||CODING|NR_040011.1|1|1)","HSMM:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K4me3",,,,0.862,0.9308,0.8847,,,,,,,,,,,,,,,,,,,
synonymous_variant,VPS53,SILENT,NM_001128159.2:p.Ile27Ile/c.81C>T,atC/atT,LOW,COSM3755747(2),0.145367,0.0248,rs11558129,,,,,,chr17,617869,617869,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile27Ile/c.81C>T|832|VPS53|protein_coding|CODING|NM_001128159.2|1|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile27Ile/c.81C>T|670|VPS53|protein_coding|CODING|NM_018289.3|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.2679,0.2435,0.2356,0.18,0.05,0.25,,,,,,,,,,,,,,,,
missense_variant,GEMIN4,MISSENSE,NM_015721.2:p.Arg1033Cys/c.3097C>T,Cgc/Tgc,MODERATE,COSM3766150(1),0.707069,0.7232,rs7813,0.01(D),0.528(P),1.61(L),-1.1581(T),,chr17,648186,648186,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1033Cys/c.3097C>T|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6268,0.6398,0.5905,0.65,0.84,0.56,,0.000003(D),0.000(P),3.24(T),0.0000(T),0.431,3.372854,5.71,5.71,0.655000,2.709000,7.130000,0.380000,1.000000,1.000000,18.8558
missense_variant,GEMIN4,MISSENSE,NM_015721.2:p.Asp929Asn/c.2785G>A,Gat/Aat,MODERATE,COSM4130508(1),0.892173,0.8899,rs2740349,1(T),0.0(B),-1.24(N),-0.9912(T),,chr17,648498,648498,C,T,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp929Asn/c.2785G>A|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:USF1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8834,0.8242,0.8439,0.87,0.96,0.83,,0.027482(N),1.000(P),3.33(T),0.0000(T),0.018,-1.534733,5.83,4.69,-0.254000,1.046000,1.204000,0.603000,0.205000,0.017000,4.6294
synonymous_variant,GEMIN4,SILENT,NM_015721.2:p.Thr789Thr/c.2367A>G,acA/acG,LOW,,0.0147764,0,rs12942598,,,,,,chr17,648916,648916,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr789Thr/c.2367A>G|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0102,0.0331,0.0398,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,GEMIN4,MISSENSE,NM_015721.2:p.Ile739Thr/c.2216T>C,aTt/aCt,MODERATE,COSM4130510(1),0.0742812,0.002,rs1062923,0.16(T),0.002(B),1.245(L),-0.9863(T),,chr17,649067,649067,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile739Thr/c.2216T>C|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1043,0.0865,0.1918,0.13,0.03,0.17,,0.611688(N),1.000(P),3.23(T),0.0000(T),0.023,-0.632507,5.46,-2.19,0.533000,-0.811000,1.057000,0.038000,0.001000,0.000000,12.0072
missense_variant,GEMIN4,MISSENSE,NM_015721.2:p.Ala579Gly/c.1736C>G,gCc/gGc,MODERATE,,0.710064,0.7232,rs910925,0.03(D),0.997(D),2.095(M),-1.0797(T),,chr17,649547,649547,G,C,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala579Gly/c.1736C>G|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6329,0.6412,0.5885,0.65,0.83,0.56,,0.000000(D),0.000(P),2.35(T),0.0000(T),0.581,4.442024,5.84,5.84,0.591000,2.779000,9.633000,0.983000,0.997000,1.000000,19.1348
missense_variant,GEMIN4,MISSENSE,NM_015721.2:p.Thr529Ser/c.1585A>T,Act/Tct,MODERATE,,0.00159744,0,rs35172207,0.05(D),0.164(B),1.935(M),-1.1181(T),,chr17,649698,649698,T,A,het,missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr529Ser/c.1585A>T|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.005,0.00,0.00,0.00,,0.000027(D),1.000(D),2.45(T),0.0351(T),0.433,1.162794,5.84,4.77,0.482000,2.243000,3.088000,0.040000,0.493000,0.997000,10.6075
missense_variant,GEMIN4,MISSENSE,NM_015721.2:p.Gln450Glu/c.1348C>G,Cag/Gag,MODERATE,,0.893371,0.8899,rs2740348,1(T),0.0(B),-1.445(N),-0.9709(T),,chr17,649935,649935,G,C,het,missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln450Glu/c.1348C>G|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8896,0.8242,0.8439,0.87,0.96,0.83,,0.059752(N),1.000(P),2.76(T),0.0000(T),0.047,-2.123239,6.08,6.08,-0.187000,1.603000,2.121000,0.245000,0.884000,0.440000,10.1146
synonymous_variant,GEMIN4,SILENT,NM_015721.2:p.Asp255Asp/c.765C>T,gaC/gaT,LOW,COSM4130512(1),0.0738818,0.002,rs35696687,1(T),0.002(B),,-0.9800(T),,chr17,650518,650518,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp255Asp/c.765C>T|1058|GEMIN4|protein_coding|CODING|NM_015721.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1043,0.0865,0.1918,0.12,0.03,0.17,,,0.084(P),2.92(T),0.0000(T),.,-0.845209,5.37,-10.7,0.557000,-2.233000,-4.479000,0.664000,0.616000,0.000000,7.923
missense_variant,RNMTL1,MISSENSE,NM_018146.2:p.Ala8Ser/c.22G>T,Gcg/Tcg,MODERATE,COSM3755784(2),0.264177,0.505,rs2273454,0.83(T),0.001(B),0(N),-0.9398(T),,chr17,685640,685640,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala8Ser/c.22G>T|420|RNMTL1|protein_coding|CODING|NM_018146.2|1|1),upstream_gene_variant(MODIFIER||69||298|GLOD4|protein_coding|CODING|NM_016080.3||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:CBP,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,GM12878:USF1,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,H1ESC:ATF3,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,GM12878:SIX5,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,GM12878:ATF3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:Srf,H1ESC:H3K4me3,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:Egr1,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:ATF3,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20",,,,0.2832,0.3314,0.1988,0.17,0.11,0.20,,0.449707(N),1.000(P),2.25(T),0.0000(T),0.029,2.002514,4.97,-8.41,-0.217000,-1.851000,-0.782000,0.000000,0.000000,0.000000,1.9843
synonymous_variant,TIMM22,SILENT,NM_013337.2:p.Thr15Thr/c.45A>G,acA/acG,LOW,COSM1480213(1),0.00279553,0,rs143321619,,,,,,chr17,900427,900427,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr15Thr/c.45A>G|194|TIMM22|protein_coding|CODING|NM_013337.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:SIX5,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:USF1,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,GM06990:H3K4me3,HepG2:HEY1,H1ESC:SIX5,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.002,0.0058,0.006,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ABR,SILENT,NM_001256847.2:p.Arg28Arg/c.84C>T,cgC/cgT,LOW,,0.0846645,0.0109,rs9903778,,,,,,chr17,934898,934898,G,A,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg28Arg/c.84C>T|310|ABR|protein_coding|CODING|NM_001256847.2|1|1),intron_variant(MODIFIER|||c.1680+18392C>T|822|ABR|protein_coding|CODING|NM_001092.4|15|1),intron_variant(MODIFIER|||c.1653+18392C>T|813|ABR|protein_coding|CODING|NM_001159746.2|16|1),intron_variant(MODIFIER|||c.1137+18392C>T|641|ABR|protein_coding|CODING|NM_001282149.1|11|1),intron_variant(MODIFIER|||c.1791+18392C>T|859|ABR|protein_coding|CODING|NM_021962.4|16|1)","GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.0481,0.1311,0.168,,,,,,,,,,,,,,,,,,,
missense_variant,ABR,MISSENSE,NM_001256847.2:p.Pro18Thr/c.52C>A,Ccc/Acc,MODERATE,,0.0451278,0,rs146613429,0.41(T),0.005(B),,-0.9737(T),,chr17,934930,934930,G,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro18Thr/c.52C>A|310|ABR|protein_coding|CODING|NM_001256847.2|1|1),intron_variant(MODIFIER|||c.1680+18360C>A|822|ABR|protein_coding|CODING|NM_001092.4|15|1),intron_variant(MODIFIER|||c.1653+18360C>A|813|ABR|protein_coding|CODING|NM_001159746.2|16|1),intron_variant(MODIFIER|||c.1137+18360C>A|641|ABR|protein_coding|CODING|NM_001282149.1|11|1),intron_variant(MODIFIER|||c.1791+18360C>A|859|ABR|protein_coding|CODING|NM_021962.4|16|1)","GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.0368,0.0807,0.1083,,,,,,0.001(P),2.44(T),0.0005(T),0.119,3.605433,5.01,1.8,0.506000,0.198000,4.351000,0.604000,0.884000,0.998000,6.0935
missense_variant,ABR,MISSENSE,NM_001256847.2:p.Asp9Asn/c.25G>A,Gac/Aac,MODERATE,,,,,0.01(D),0.012(B),,-1.0793(T),,chr17,934957,934957,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp9Asn/c.25G>A|310|ABR|protein_coding|CODING|NM_001256847.2|1|1),intron_variant(MODIFIER|||c.1680+18333G>A|822|ABR|protein_coding|CODING|NM_001092.4|15|1),intron_variant(MODIFIER|||c.1653+18333G>A|813|ABR|protein_coding|CODING|NM_001159746.2|16|1),intron_variant(MODIFIER|||c.1137+18333G>A|641|ABR|protein_coding|CODING|NM_001282149.1|11|1),intron_variant(MODIFIER|||c.1791+18333G>A|859|ABR|protein_coding|CODING|NM_021962.4|16|1)","GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),2.52(T),0.0239(T),0.132,4.325546,5.01,5.01,0.506000,2.478000,3.314000,0.439000,0.999000,1.000000,10.8568
synonymous_variant,ABR,SILENT,NM_021962.4:p.Glu362Glu/c.1086G>A,gaG/gaA,LOW,,0.896965,0.9683,rs2262150,,,,,,chr17,970413,970413,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu325Glu/c.975G>A|822|ABR|protein_coding|CODING|NM_001092.4|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu316Glu/c.948G>A|813|ABR|protein_coding|CODING|NM_001159746.2|10|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu144Glu/c.432G>A|641|ABR|protein_coding|CODING|NM_001282149.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu362Glu/c.1086G>A|859|ABR|protein_coding|CODING|NM_021962.4|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.955,0.8977,0.9404,0.87,0.79,0.90,,,,,,,,,,,,,,,,
missense_variant,TUSC5,MISSENSE,NM_172367.2:p.Phe20Ser/c.59T>C,tTc/tCc,MODERATE,COSM4129567(1),0.849042,0.8819,rs6502774,0.36(T),0.0(B),0(N),-0.9878(T),,chr17,1183354,1183354,T,C,hom,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe20Ser/c.59T>C|177|TUSC5|protein_coding|CODING|NM_172367.2|1|1),"NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7945,0.8876,0.7435,0.80,0.90,0.75,,0.000000(U),1.000(P),-0.44(T),0.0000(T),0.084,3.225470,5.22,5.22,-0.254000,1.247000,2.666000,0.191000,0.007000,0.086000,10.057
missense_variant,TUSC5,MISSENSE,NM_172367.2:p.Ser57Gly/c.169A>G,Agc/Ggc,MODERATE,,0.780152,0.8671,rs6502776,1(T),0.0(B),-2.255(N),-0.9496(T),,chr17,1183464,1183464,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser57Gly/c.169A>G|177|TUSC5|protein_coding|CODING|NM_172367.2|1|1),"NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7638,0.8761,0.7495,0.74,0.72,0.75,,0.000000(N),0.999(P),0.06(T),0.0000(T),0.02,-0.379221,5.38,4.41,-0.254000,0.680000,3.482000,0.323000,0.839000,1.000000,9.6977
synonymous_variant,CRK,SILENT,NM_016823.3:p.Arg17Arg/c.49A>C,Agg/Cgg,LOW,COSM3755259(12),0.727835,0.5149,rs2229075,,,,,,chr17,1359363,1359363,T,G,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg17Arg/c.49A>C|204|CRK|protein_coding|CODING|NM_005206.4|1|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg17Arg/c.49A>C|304|CRK|protein_coding|CODING|NM_016823.3|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,GM12878:ETS1,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:THAP1,GM12878:MEF2A,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:HNF4A,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.7249,0.7104,0.7018,0.78,0.88,0.72,,,,,,,,,,,,,,,,
synonymous_variant,MYO1C,SILENT,NM_001080779.1:p.Leu1053Leu/c.3159G>T,ctG/ctT,LOW,COSM3765987(1),0.0924521,0.0903,rs2302458,,,,,,chr17,1370542,1370542,C,A,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu1053Leu/c.3159G>T|1063|MYO1C|protein_coding|CODING|NM_001080779.1|31|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu1034Leu/c.3102G>T|1044|MYO1C|protein_coding|CODING|NM_001080950.1|31|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu1018Leu/c.3054G>T|1028|MYO1C|protein_coding|CODING|NM_033375.4|31|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.0735,0.0924,0.11,0.12,0.10,,,,,,,,,,,,,,,,
missense_variant,MYO1C,MISSENSE,NM_001080779.1:p.Lys858Asn/c.2574A>C,aaA/aaC,MODERATE,,0.00379393,0,rs61753652,0.06(T),"0.024,0.586(B,P)",1.995(M),0.0487(D),,chr17,1372861,1372861,T,G,het,"missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys858Asn/c.2574A>C|1063|MYO1C|protein_coding|CODING|NM_001080779.1|25|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys839Asn/c.2517A>C|1044|MYO1C|protein_coding|CODING|NM_001080950.1|25|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys823Asn/c.2469A>C|1028|MYO1C|protein_coding|CODING|NM_033375.4|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:SETDB1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0014,0.0139,0.01,0.00,0.01,,0.004924(N),0.617(D),"-2.36,-2.35,-2.35,-2.35(D,D,D,D)",0.5238(D),0.345,3.014550,5.14,-2.4,-0.242000,-0.252000,-1.228000,0.982000,0.993000,0.010000,7.8571
missense_variant,MYO1C,MISSENSE,NM_001080779.1:p.Gln826Arg/c.2477A>G,cAg/cGg,MODERATE,COSM4129576(1),0.711661,0.4196,rs9905106,0.53(T),"0.001,0.0(B,B)",-0.345(N),-0.9526(T),,chr17,1373518,1373518,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln826Arg/c.2477A>G|1063|MYO1C|protein_coding|CODING|NM_001080779.1|24|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln807Arg/c.2420A>G|1044|MYO1C|protein_coding|CODING|NM_001080950.1|24|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln791Arg/c.2372A>G|1028|MYO1C|protein_coding|CODING|NM_033375.4|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7515,0.7017,0.7008,0.79,0.89,0.74,,0.000009(N),1.000(P),"-2.19,-2.2,-2.2,-2.2(D,D,D,D)",0.0000(T),0.087,0.344923,4.95,4.95,-0.215000,1.334000,1.400000,0.215000,0.999000,0.998000,6.3336
missense_variant,MYO1C,MISSENSE,NM_001080779.1:p.Val795Ile/c.2383G>A,Gtc/Atc,MODERATE,,0.820887,0.5308,rs8081370,0.54(T),,-2.625(N),-0.9377(T),,chr17,1373612,1373612,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val795Ile/c.2383G>A|1063|MYO1C|protein_coding|CODING|NM_001080779.1|24|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val776Ile/c.2326G>A|1044|MYO1C|protein_coding|CODING|NM_001080950.1|24|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val760Ile/c.2278G>A|1028|MYO1C|protein_coding|CODING|NM_033375.4|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8067,0.8213,0.8936,0.94,0.98,0.91,,,1.000(P),,0.0000(T),.,-0.353600,4.89,4.89,-0.361000,0.898000,4.556000,0.667000,1.000000,1.000000,7.5016
synonymous_variant,MYO1C,SILENT,NM_001080779.1:p.Phe586Phe/c.1758T>C,ttT/ttC,LOW,COSM3755263(1),0.417532,0.2093,rs2286873,,,,,,chr17,1377943,1377943,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe586Phe/c.1758T>C|1063|MYO1C|protein_coding|CODING|NM_001080779.1|17|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe567Phe/c.1701T>C|1044|MYO1C|protein_coding|CODING|NM_001080950.1|17|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe551Phe/c.1653T>C|1028|MYO1C|protein_coding|CODING|NM_033375.4|17|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,GM12878:ELF1,GM12878:ZEB1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.2812,0.3977,0.3847,0.45,0.66,0.35,,,,,,,,,,,,,,,,
synonymous_variant,MYO1C,SILENT,NM_001080779.1:p.Gly247Gly/c.741T>C,ggT/ggC,LOW,COSM4129577(1),0.994409,0.9732,rs4790518,,,,,,chr17,1384066,1384066,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly247Gly/c.741T>C|1063|MYO1C|protein_coding|CODING|NM_001080779.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly228Gly/c.684T>C|1044|MYO1C|protein_coding|CODING|NM_001080950.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly212Gly/c.636T>C|1028|MYO1C|protein_coding|CODING|NM_033375.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MYO1C,SILENT,NM_001080779.1:p.Thr129Thr/c.387G>A,acG/acA,LOW,,0.00319489,0.001,rs112029113,,,,,,chr17,1386314,1386314,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr129Thr/c.387G>A|1063|MYO1C|protein_coding|CODING|NM_001080779.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr110Thr/c.330G>A|1044|MYO1C|protein_coding|CODING|NM_001080950.1|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr94Thr/c.282G>A|1028|MYO1C|protein_coding|CODING|NM_033375.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0058,0.0109,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,SCARF1,MISSENSE,NM_003693.3:p.Gly667Ser/c.1999G>A,Ggc/Agc,MODERATE,COSM3755270(2),0.906749,0.9226,rs4790250,0.86(T),"0.022,0.01(B,B)",1.175(L),-0.9174(T),,chr17,1538546,1538546,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly667Ser/c.1999G>A|830|SCARF1|protein_coding|CODING|NM_003693.3|11|1),3_prime_UTR_variant(MODIFIER||252|c.*252G>A|569|SCARF1|protein_coding|CODING|NM_145350.2|11|1),non_coding_exon_variant(MODIFIER|||n.2021G>A||SCARF1||CODING|NR_028075.2|11|1),non_coding_exon_variant(MODIFIER|||n.2128G>A||SCARF1||CODING|NR_102409.1|11|1)","HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9847,0.9827,0.998,0.93,0.78,1.00,,0.049337(N),1.000(P),"1.61,1.61(T,T)",0.0000(T),0.042,0.566040,5.0,2.24,0.555000,0.208000,0.357000,0.196000,0.231000,0.037000,8.6638
missense_variant,SCARF1,MISSENSE,NM_003693.3:p.Glu639Asp/c.1917G>C,gaG/gaC,MODERATE,,0.903754,0.9256,rs3744644,0.56(T),"0.616,0.017(P,B)",1.725(L),-0.9072(T),,chr17,1538628,1538628,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu639Asp/c.1917G>C|830|SCARF1|protein_coding|CODING|NM_003693.3|11|1),3_prime_UTR_variant(MODIFIER||170|c.*170G>C|569|SCARF1|protein_coding|CODING|NM_145350.2|11|1),non_coding_exon_variant(MODIFIER|||n.1939G>C||SCARF1||CODING|NR_028075.2|11|1),non_coding_exon_variant(MODIFIER|||n.2046G>C||SCARF1||CODING|NR_102409.1|11|1)","HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9652,0.9813,0.998,0.92,0.78,1.00,,0.000851(D),1.000(P),"1.13,1.13(T,T)",0.0000(T),0.1,0.796078,5.21,3.2,0.555000,0.576000,-0.283000,0.125000,0.148000,0.000000,7.906
missense_variant,SCARF1,MISSENSE,NM_145350.2:p.Ser498Leu/c.1493C>T,tCg/tTg,MODERATE,COSM3755271(2),0.0527157,0.001,rs34849297,0.03(D),0.017(B),,-1.0576(T),,chr17,1540106,1540106,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser498Leu/c.1493C>T|569|SCARF1|protein_coding|CODING|NM_145350.2|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile510Ile/c.1530C>T|830|SCARF1|protein_coding|CODING|NM_003693.3|10|1),non_coding_exon_variant(MODIFIER|||n.1552C>T||SCARF1||CODING|NR_028075.2|10|1),non_coding_exon_variant(MODIFIER|||n.1659C>T||SCARF1||CODING|NR_102409.1|10|1)","HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0368,0.0865,0.159,0.12,0.03,0.16,,,0.000(P),,0.0005(T),.,2.855703,5.15,-2.06,0.556000,-0.203000,-1.417000,0.986000,0.989000,0.001000,11.0843
synonymous_variant,SCARF1,SILENT,NM_003693.3:p.Gly437Gly/c.1311C>T,ggC/ggT,LOW,,0.645767,0.877,rs2272012,,,,,,chr17,1542153,1542153,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly437Gly/c.1311C>T|830|SCARF1|protein_coding|CODING|NM_003693.3|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly437Gly/c.1311C>T|569|SCARF1|protein_coding|CODING|NM_145350.2|8|1),non_coding_exon_variant(MODIFIER|||n.1333C>T||SCARF1||CODING|NR_028075.2|8|1),non_coding_exon_variant(MODIFIER|||n.1440C>T||SCARF1||CODING|NR_102409.1|8|1)","HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6881,0.6902,0.6332,0.57,0.46,0.62,,,,,,,,,,,,,,,,
missense_variant,SCARF1,MISSENSE,NM_003693.3:p.Ala425Val/c.1274C>T,gCg/gTg,MODERATE,COSM436062(3),0.666733,0.878,rs2272011,0.25(T),"0.003,0.019,0.016(B,B,B)",1.7(L),-1.0341(T),,chr17,1542190,1542190,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala425Val/c.1274C>T|830|SCARF1|protein_coding|CODING|NM_003693.3|8|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala425Val/c.1274C>T|569|SCARF1|protein_coding|CODING|NM_145350.2|8|1),non_coding_exon_variant(MODIFIER|||n.1296C>T||SCARF1||CODING|NR_028075.2|8|1),non_coding_exon_variant(MODIFIER|||n.1403C>T||SCARF1||CODING|NR_102409.1|8|1)","HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6851,0.6916,0.6133,0.58,0.53,0.60,,0.176501(N),1.000(P),"1.07,1.07(T,T)",0.0000(T),0.129,1.859897,5.51,-3.51,-3.352000,-1.023000,-0.070000,0.000000,0.000000,0.000000,8.8818
synonymous_variant,TLCD2,SILENT,NM_001164407.1:p.Ser142Ser/c.426T>C,tcT/tcC,LOW,,0.754593,0.6161,rs4790809,,,,,,chr17,1611433,1611433,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser142Ser/c.426T>C|264|TLCD2|protein_coding|CODING|NM_001164407.1|4|1),"GM12878:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6656,0.8718,0.8738,0.88,0.80,0.91,,,,,,,,,,,,,,,,
missense_variant,WDR81,MISSENSE,NM_001163809.1:p.Pro652Leu/c.1955C>T,cCg/cTg,MODERATE,COSM4129616(1),0.233227,0.4821,rs57207396,1(T),,,-0.9249(T),,chr17,1630208,1630208,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro652Leu/c.1955C>T|1941|WDR81|protein_coding|CODING|NM_001163809.1|1|1),intron_variant(MODIFIER|||c.-123-1076C>T|890|WDR81|protein_coding|CODING|NM_152348.3|1|1),intron_variant(MODIFIER|||c.59-3466C>T|738|WDR81|protein_coding|CODING|NM_001163673.1|1|1),intron_variant(MODIFIER|||c.-15+2128C>T|714|WDR81|protein_coding|CODING|NM_001163811.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118850.2,,0.2474,0.1988,0.2604,,,,,,0.998(P),0.7(T),0.0000(T),0.203,0.950427,5.07,3.02,0.462000,0.670000,1.499000,0.832000,0.143000,0.001000,5.6639
synonymous_variant,WDR81,SILENT,NM_001163809.1:p.Gly714Gly/c.2142T>C,ggT/ggC,LOW,,0.267173,0.4861,rs59643265,,,,,,chr17,1630395,1630395,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly714Gly/c.2142T>C|1941|WDR81|protein_coding|CODING|NM_001163809.1|1|1),intron_variant(MODIFIER|||c.-123-889T>C|890|WDR81|protein_coding|CODING|NM_152348.3|1|1),intron_variant(MODIFIER|||c.59-3279T>C|738|WDR81|protein_coding|CODING|NM_001163673.1|1|1),intron_variant(MODIFIER|||c.-15+2315T>C|714|WDR81|protein_coding|CODING|NM_001163811.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118851.2,,0.2474,0.2133,0.2614,0.23,0.15,0.26,,,,,,,,,,,,,,,,
synonymous_variant,WDR81,SILENT,NM_001163809.1:p.Leu777Leu/c.2331A>G,ctA/ctG,LOW,COSM4129617(1),0.298522,0.4861,rs7221974,,,,,,chr17,1630584,1630584,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu777Leu/c.2331A>G|1941|WDR81|protein_coding|CODING|NM_001163809.1|1|1),intron_variant(MODIFIER|||c.-123-700A>G|890|WDR81|protein_coding|CODING|NM_152348.3|1|1),intron_variant(MODIFIER|||c.59-3090A>G|738|WDR81|protein_coding|CODING|NM_001163673.1|1|1),intron_variant(MODIFIER|||c.-15+2504A>G|714|WDR81|protein_coding|CODING|NM_001163811.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118852.2,,0.2434,0.2219,0.2614,0.27,0.27,0.26,,,,,,,,,,,,,,,,
missense_variant,WDR81,MISSENSE,NM_001163809.1:p.Met1535Val/c.4603A>G,Atg/Gtg,MODERATE,COSM3932488(1),0.278954,0.4861,rs3809870,0.6(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0.345(N),-1.0216(T),,chr17,1636934,1636934,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met332Val/c.994A>G|738|WDR81|protein_coding|CODING|NM_001163673.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1535Val/c.4603A>G|1941|WDR81|protein_coding|CODING|NM_001163809.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met308Val/c.922A>G|714|WDR81|protein_coding|CODING|NM_001163811.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met484Val/c.1450A>G|890|WDR81|protein_coding|CODING|NM_152348.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118855.2,,0.2485,0.2219,0.2744,0.24,0.18,0.26,,0.257327(N),1.000(P),"-1.07,-1.07,-1.07,-1.07,-1.07,-1.07,-1.07(T,T,T,T,T,T,T)",0.0000(T),0.136,-3.187157,4.26,-1.04,-0.971000,-0.539000,-0.684000,0.035000,0.001000,0.000000,9.6648
synonymous_variant,WDR81,SILENT,NM_001163809.1:p.Pro1581Pro/c.4743A>G,ccA/ccG,LOW,COSM436111(1),0.539537,0.7312,rs3809871,,,,,,chr17,1637074,1637074,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro378Pro/c.1134A>G|738|WDR81|protein_coding|CODING|NM_001163673.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1581Pro/c.4743A>G|1941|WDR81|protein_coding|CODING|NM_001163809.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro354Pro/c.1062A>G|714|WDR81|protein_coding|CODING|NM_001163811.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro530Pro/c.1590A>G|890|WDR81|protein_coding|CODING|NM_152348.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118856.2,,0.3783,0.5,0.5149,0.52,0.55,0.51,,,,,,,,,,,,,,,,
synonymous_variant,WDR81,SILENT,NM_001163809.1:p.Leu1657Leu/c.4971A>G,ctA/ctG,LOW,COSM3755291(4),0.76238,0.9157,rs3809872,,,,,,chr17,1637302,1637302,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu454Leu/c.1362A>G|738|WDR81|protein_coding|CODING|NM_001163673.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1657Leu/c.4971A>G|1941|WDR81|protein_coding|CODING|NM_001163809.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu430Leu/c.1290A>G|714|WDR81|protein_coding|CODING|NM_001163811.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu606Leu/c.1818A>G|890|WDR81|protein_coding|CODING|NM_152348.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118857.2,,0.7566,0.7089,0.7137,0.72,0.72,0.72,,,,,,,,,,,,,,,,
synonymous_variant,WDR81,SILENT,NM_001163809.1:p.Thr1817Thr/c.5451A>G,acA/acG,LOW,COSM436116(2),0.717652,0.8383,rs11549259,,,,,,chr17,1639458,1639458,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr614Thr/c.1842A>G|738|WDR81|protein_coding|CODING|NM_001163673.1|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1817Thr/c.5451A>G|1941|WDR81|protein_coding|CODING|NM_001163809.1|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr590Thr/c.1770A>G|714|WDR81|protein_coding|CODING|NM_001163811.1|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr766Thr/c.2298A>G|890|WDR81|protein_coding|CODING|NM_152348.3|10|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3",,RCV000118860.2,,0.7505,0.6772,0.7177,0.69,0.63,0.72,,,,,,,,,,,,,,,,
missense_variant,SERPINF1,MISSENSE,NM_002615.5:p.Thr72Met/c.215C>T,aCg/aTg,MODERATE,COSM1381146(1),0.626198,0.4871,rs1136287,0.18(T),0.006(B),0.805(L),-0.9554(T),,chr17,1673276,1673276,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr72Met/c.215C>T|418|SERPINF1|protein_coding|CODING|NM_002615.5|3|1),"NHEK:H3K9ac,HepG2:RXRA,NHEK:H3K27ac,HUVEC:H3K27me3,CD4:H4K91ac,NHEK:H3K4me1,K562:H3K36me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,IMR90:H3K36me3,HepG2:FOXA2,HMEC:H3K4me1,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:FOXA1,HepG2:DNase1,NHEK:DNase1,GM12878:H2AZ",,,,0.4294,0.5893,0.6541,0.71,0.83,0.65,,0.000341(N),1.000(P),-1.87(D),0.0000(T),0.283,1.045905,5.67,-11.3,-0.260000,-2.772000,-0.750000,0.243000,0.000000,0.000000,5.2065
synonymous_variant,SERPINF1,SILENT,NM_002615.5:p.Thr130Thr/c.390T>C,acT/acC,LOW,COSM436124(4),0.300319,0.4067,rs8074840,,,,,,chr17,1674429,1674429,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr130Thr/c.390T>C|418|SERPINF1|protein_coding|CODING|NM_002615.5|4|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.3793,0.3631,0.3101,0.25,0.16,0.29,,,,,,,,,,,,,,,,
synonymous_variant,SERPINF1,SILENT,NM_002615.5:p.Tyr321Tyr/c.963T>C,taT/taC,LOW,COSM3766007(3),0.776757,0.7758,rs6828,,,,,,chr17,1680002,1680002,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr321Tyr/c.963T>C|418|SERPINF1|protein_coding|CODING|NM_002615.5|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.638,0.7565,0.7386,0.77,0.89,0.71,,,,,,,,,,,,,,,,
missense_variant,SMYD4,MISSENSE,NM_052928.2:p.Tyr727Cys/c.2180A>G,tAc/tGc,MODERATE,COSM3766010(1),0.776757,0.7758,rs9902398,0.15(T),0.004(B),0(N),-0.9104(T),,chr17,1686410,1686410,T,C,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr727Cys/c.2180A>G|804|SMYD4|protein_coding|CODING|NM_052928.2|10|1),"H1ESC:H3K36me3,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K9ac,IMR90:H3K36me3,HSMM:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.638,0.7565,0.7386,0.77,0.89,0.71,,0.070408(N),1.000(P),-0.01(T),0.0000(T),0.094,0.226433,5.84,-11.7,-1.212000,-2.928000,-3.368000,0.007000,0.000000,0.000000,12.5806
missense_variant,SMYD4,MISSENSE,NM_052928.2:p.Arg562Trp/c.1684C>T,Cgg/Tgg,MODERATE,COSM3766011(2),0.440495,0.5268,rs11549830,0.12(T),0.809(P),1.525(L),-0.9865(T),,chr17,1690752,1690752,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg562Trp/c.1684C>T|804|SMYD4|protein_coding|CODING|NM_052928.2|6|1),"H1ESC:H3K36me3,IMR90:H3K9ac,HSMM:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,HSMM:H3K36me3,IMR90:H2AK5ac,IMR90:H3K4ac,IMR90:H3K4me1,IMR90:H3K36me3,HSMM:H3K4me1,IMR90:H3K27ac,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HUVEC:H3K4me1,IMR90:H3K18ac,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.4632,0.4914,0.3439,0.35,0.39,0.33,,0.310634(N),0.940(P),-1.37(T),0.0000(T),0.172,3.640410,5.86,2.54,0.655000,0.244000,0.773000,0.743000,0.266000,0.456000,11.3134
missense_variant,SMYD4,MISSENSE,NM_052928.2:p.Pro382Arg/c.1145C>G,cCt/cGt,MODERATE,COSM4000036(1),0.279353,0.1905,rs3809875,0.51(T),0.936(D),2.105(M),-0.8567(T),,chr17,1703543,1703543,G,C,het,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro382Arg/c.1145C>G|804|SMYD4|protein_coding|CODING|NM_052928.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.2305,0.2773,0.33,0.39,0.30,,0.016186(N),1.000(P),2.92(T),0.0000(T),0.427,1.626284,5.85,4.83,0.655000,2.941000,3.500000,0.075000,0.860000,0.916000,16.8524
missense_variant,SMYD4,MISSENSE,NM_052928.2:p.Arg131Ile/c.392G>T,aGa/aTa,MODERATE,COSM3755299(3),0.28734,0.2688,rs7224496,0.21(T),0.961(D),2.79(M),-0.9128(T),,chr17,1704296,1704296,C,A,het,missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg131Ile/c.392G>T|804|SMYD4|protein_coding|CODING|NM_052928.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2311,0.2594,0.4851,0.40,0.23,0.49,,0.040700(N),0.000(P),2.19(T),0.0000(T),0.461,2.148721,5.98,3.97,-0.157000,0.844000,3.005000,0.069000,0.942000,1.000000,9.7875
synonymous_variant,SMYD4,SILENT,NM_052928.2:p.Glu7Glu/c.21A>G,gaA/gaG,LOW,COSM3755301(2),0.589257,0.4583,rs8067660,,,,,,chr17,1731268,1731268,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu7Glu/c.21A>G|804|SMYD4|protein_coding|CODING|NM_052928.2|2|1),"H1ESC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4857,0.4971,0.7634,0.76,0.72,0.79,,,,,,,,,,,,,,,,
synonymous_variant,RPA1,SILENT,NM_002945.3:p.Gln4Gln/c.12A>G,caA/caG,LOW,COSM3755302(1),0.544129,0.3611,rs5030749,,,,,,chr17,1733399,1733399,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln4Gln/c.12A>G|616|RPA1|protein_coding|CODING|NM_002945.3|1|1),upstream_gene_variant(MODIFIER||224||804|SMYD4|protein_coding|CODING|NM_052928.2||1)","HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:DNase1,HSMM:DNase1,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,K562:E2F4",,,,0.4703,0.4769,0.7515,0.74,0.67,0.78,,,,,,,,,,,,,,,,
missense_variant,RPA1,MISSENSE,NM_002945.3:p.Thr351Ala/c.1051A>G,Aca/Gca,MODERATE,,0.0291534,0,rs5030755,0.53(T),0.001(B),0.865(L),-1.0082(T),,chr17,1782952,1782952,A,G,het,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr351Ala/c.1051A>G|616|RPA1|protein_coding|CODING|NM_002945.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.0202,0.1024,0.08,0.02,0.11,,0.005307(N),0.995(P),2.37(T),0.0007(T),0.09,0.478367,5.93,5.93,0.482000,2.273000,4.639000,0.410000,0.933000,1.000000,10.1813
synonymous_variant,RTN4RL1,SILENT,NM_178568.2:p.Ala216Ala/c.648G>A,gcG/gcA,LOW,COSM4129658(1),0.679113,0.6558,rs386498278,,,,,,chr17,1840468,1840468,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala216Ala/c.648G>A|441|RTN4RL1|protein_coding|CODING|NM_178568.2|2|1),"H1ESC:DNase1,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5726,0.6599,0.7545,0.75,0.76,0.74,,,,,,,,,,,,,,,,
synonymous_variant,DPH1,SILENT,NM_001383.3:p.Pro337Pro/c.1011T>C,ccT/ccC,LOW,,0.816693,0.9306,rs2236375,,,,,,chr17,1943888,1943888,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro337Pro/c.1011T>C|443|DPH1|protein_coding|CODING|NM_001383.3|9|1),upstream_gene_variant(MODIFIER||1389||227|OVCA2|protein_coding|CODING|NM_080822.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6973,0.8761,0.7575,0.79,0.81,0.78,,,,,,,,,,,,,,,,
missense_variant,SMG6,MISSENSE,NM_017575.4:p.Asn575Ser/c.1724A>G,aAc/aGc,MODERATE,,0.0159744,0,rs34047637,0.95(T),0.006(B),0.55(N),-0.9387(T),,chr17,2202323,2202323,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn575Ser/c.1724A>G|1419|SMG6|protein_coding|CODING|NM_017575.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0432,0.0427,0.04,0.01,0.05,,0.000239(D),1.000(N),"3.18,3.18(T,T)",0.0016(T),0.088,0.345025,5.67,5.67,0.524000,2.158000,2.910000,0.853000,1.000000,1.000000,7.1522
synonymous_variant,SMG6,SILENT,NM_017575.4:p.Ser368Ser/c.1104A>G,tcA/tcG,LOW,COSM4129723(1),0.331669,0.5913,rs216196,,,,,,chr17,2202943,2202943,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser368Ser/c.1104A>G|1419|SMG6|protein_coding|CODING|NM_017575.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3916,0.1988,0.2555,0.26,0.25,0.26,,,,,,,,,,,,,,,,
missense_variant,SMG6,MISSENSE,NM_017575.4:p.Asn341Thr/c.1022A>C,aAc/aCc,MODERATE,COSM4129724(1),0.229433,0.1716,rs1885987,0.41(T),0.004(B),0(N),-0.9392(T),,chr17,2203025,2203025,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn341Thr/c.1022A>C|1419|SMG6|protein_coding|CODING|NM_017575.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2301,0.438,0.3827,0.29,0.09,0.39,,0.742929(N),0.000(P),"3.15,3.15(T,T)",0.0000(T),0.095,0.919722,5.35,2.3,-0.146000,0.252000,3.302000,0.885000,1.000000,1.000000,10.1357
missense_variant,SMG6,MISSENSE,NM_017575.4:p.Lys294Gln/c.880A>C,Aag/Cag,MODERATE,COSM3755342(1),0.401358,0.6736,rs216195,0.17(T),0.038(B),0.895(L),-1.0731(T),,chr17,2203167,2203167,T,G,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys294Gln/c.880A>C|1419|SMG6|protein_coding|CODING|NM_017575.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4796,0.2205,0.2813,0.31,0.35,0.29,,0.006125(N),0.000(P),"3.05,3.05(T,T)",0.0000(T),0.471,2.679107,5.35,5.35,0.533000,2.015000,2.662000,0.963000,1.000000,1.000000,11.93
missense_variant,SMG6,MISSENSE,NM_017575.4:p.Arg291Pro/c.872G>C,cGa/cCa,MODERATE,COSM3755343(2),0.184704,0.0893,rs1885986,0.06(T),0.921(D),0.895(L),-0.8165(T),,chr17,2203175,2203175,C,G,het,missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg291Pro/c.872G>C|1419|SMG6|protein_coding|CODING|NM_017575.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1442,0.4222,0.3569,0.26,0.07,0.36,,0.004131(N),0.000(P),"2.89,2.89(T,T)",0.0000(T),0.777,2.871802,5.35,5.35,0.655000,2.490000,3.931000,0.976000,0.997000,0.963000,19.0567
synonymous_variant,SMG6,SILENT,NM_017575.4:p.Pro233Pro/c.699A>G,ccA/ccG,LOW,,0.94369,1,rs216194,,,,,,chr17,2203348,2203348,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro233Pro/c.699A>G|1419|SMG6|protein_coding|CODING|NM_017575.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9703,0.8963,0.825,0.89,0.97,0.84,,,,,,,,,,,,,,,,
synonymous_variant,SMG6,SILENT,NM_017575.4:p.Ala198Ala/c.594T>C,gcT/gcC,LOW,COSM3755344(2),0.544529,0.6806,rs216193,,,,,,chr17,2203453,2203453,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala198Ala/c.594T>C|1419|SMG6|protein_coding|CODING|NM_017575.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5389,0.6282,0.6133,0.55,0.41,0.62,,,,,,,,,,,,,,,,
missense_variant,TSR1,MISSENSE,NM_018128.4:p.His750Gln/c.2250C>A,caC/caA,MODERATE,,0.00798722,0,rs35343613,0.15(T),0.969(D),3.085(M),-1.1062(T),,chr17,2227655,2227655,G,T,het,"missense_variant(MODERATE|MISSENSE|caC/caA|p.His750Gln/c.2250C>A|804|TSR1|protein_coding|CODING|NM_018128.4|15|1),3_prime_UTR_variant(MODIFIER||488|c.*488G>T|340|SRR|protein_coding|CODING|NM_021947.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0072,0.0298,0.03,0.01,0.04,,0.000000(D),1.000(D),2.3(T),0.0316(T),0.314,3.333244,4.92,0.254,0.655000,0.061000,1.850000,0.995000,0.999000,1.000000,8.5046
missense_variant,SGSM2,MISSENSE,NM_014853.2:p.Arg238Lys/c.713G>A,aGg/aAg,MODERATE,COSM3755345(3),0.552117,0.7639,rs745400,0.35(T),"0.01,0.005,0.009(B,B,B)",0.97(L),-1.0538(T),,chr17,2266799,2266799,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg238Lys/c.713G>A|1006|SGSM2|protein_coding|CODING|NM_001098509.1|7|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg238Lys/c.713G>A|1051|SGSM2|protein_coding|CODING|NM_014853.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6881,0.3386,0.4284,0.47,0.49,0.46,,0.000035(D),0.018(P),"2.64,2.67(T,T)",0.0000(T),0.086,3.215159,5.73,3.73,0.655000,1.440000,2.476000,0.823000,0.994000,0.979000,9.2868
synonymous_variant,SGSM2,SILENT,NM_014853.2:p.Cys242Cys/c.726T>C,tgT/tgC,LOW,COSM1563374(5),0.566294,0.7639,rs2003968,,,,,,chr17,2266812,2266812,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys242Cys/c.726T>C|1006|SGSM2|protein_coding|CODING|NM_001098509.1|7|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys242Cys/c.726T>C|1051|SGSM2|protein_coding|CODING|NM_014853.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000071372.2,,0.6902,0.3444,0.4314,0.48,0.54,0.46,,,,,,,,,,,,,,,,
missense_variant,SGSM2,MISSENSE,NM_014853.2:p.Arg374Gln/c.1121G>A,cGg/cAg,MODERATE,COSM4129727(1),0.563898,0.7619,rs2248821,0.06(T),"0.028,0.009,0.002(B,B,B)",1.59(L),-1.0329(T),,chr17,2268311,2268311,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg374Gln/c.1121G>A|1006|SGSM2|protein_coding|CODING|NM_001098509.1|10|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg374Gln/c.1121G>A|1051|SGSM2|protein_coding|CODING|NM_014853.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6892,0.3444,0.4274,0.48,0.53,0.46,,0.000001(N),0.000(P),"1.59,1.59(T,T)",0.0000(T),0.08,3.748905,5.52,2.47,0.655000,0.303000,2.258000,0.997000,0.831000,0.983000,10.2336
synonymous_variant,CLUH,SILENT,NM_015229.3:p.Ala1074Ala/c.3222C>T,gcC/gcT,LOW,COSM436208(5),0.457468,0.501,rs2302199,,,,,,chr17,2595964,2595964,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1074Ala/c.3222C>T|1309|CLUH|protein_coding|CODING|NM_015229.3|21|1),downstream_gene_variant(MODIFIER||191|||MIR6776||NON_CODING|NR_106834.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4233,0.3689,0.4235,0.42,0.51,0.37,,,,,,,,,,,,,,,,
synonymous_variant,CLUH,SILENT,NM_015229.3:p.Arg86Arg/c.258C>T,cgC/cgT,LOW,,0.488818,0.5248,rs1065479,,,,,,chr17,2606715,2606715,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg86Arg/c.258C>T|1309|CLUH|protein_coding|CODING|NM_015229.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5358,0.6354,0.5696,0.53,0.34,0.62,,,,,,,,,,,,,,,,
synonymous_variant,RAP1GAP2,SILENT,NM_015085.4:p.Pro614Pro/c.1842G>A,ccG/ccA,LOW,COSM3932535(1),0.428514,0.5466,rs55904912,,,,,,chr17,2929392,2929392,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro599Pro/c.1797G>A|715|RAP1GAP2|protein_coding|CODING|NM_001100398.1|19|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro614Pro/c.1842G>A|730|RAP1GAP2|protein_coding|CODING|NM_015085.4|20|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5276,0.4986,0.4066,0.36,0.27,0.41,,,,,,,,,,,,,,,,
synonymous_variant,RAP1GAP2,SILENT,NM_015085.4:p.Arg632Arg/c.1896T>C,cgT/cgC,LOW,COSM329589(2),0.581869,0.6429,rs12941934,,,,,,chr17,2929674,2929674,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg617Arg/c.1851T>C|715|RAP1GAP2|protein_coding|CODING|NM_001100398.1|20|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg632Arg/c.1896T>C|730|RAP1GAP2|protein_coding|CODING|NM_015085.4|21|1)","H1ESC:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6789,0.6744,0.5606,0.57,0.48,0.61,,,,,,,,,,,,,,,,
synonymous_variant,RAP1GAP2,SILENT,NM_015085.4:p.Pro694Pro/c.2082G>A,ccG/ccA,LOW,COSM1382340(5),0.427316,0.5486,rs4790115,,,,,,chr17,2930339,2930339,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro679Pro/c.2037G>A|715|RAP1GAP2|protein_coding|CODING|NM_001100398.1|21|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro694Pro/c.2082G>A|730|RAP1GAP2|protein_coding|CODING|NM_015085.4|22|1)","H1ESC:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5256,0.4942,0.4066,0.36,0.28,0.41,,,,,,,,,,,,,,,,
synonymous_variant,OR1D5,SILENT,NM_014566.1:p.Ser243Ser/c.729C>G,tcC/tcG,LOW,,0.266374,0.0228,rs2676565,,,,,,chr17,2966173,2966173,G,C,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser243Ser/c.729C>G|312|OR1D5|protein_coding|CODING|NM_014566.1|1|1),HepG2:H3K27me3,,,,0.2955,0.2954,0.334,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR1D5,SILENT,NM_014566.1:p.Thr237Thr/c.711C>T,acC/acT,LOW,COSM4129825(2),0.271765,0.0228,rs2676566,,,,,,chr17,2966191,2966191,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr237Thr/c.711C>T|312|OR1D5|protein_coding|CODING|NM_014566.1|1|1),HepG2:H3K27me3,,,,0.2955,0.2968,0.333,,,,,,,,,,,,,,,,,,,
missense_variant,OR1D5,MISSENSE,NM_014566.1:p.Pro210Leu/c.629C>T,cCc/cTc,MODERATE,COSM3819247(2),0.271166,0.0228,rs2676567,,,,,,chr17,2966273,2966273,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro210Leu/c.629C>T|312|OR1D5|protein_coding|CODING|NM_014566.1|1|1),HepG2:H3K27me3,,,,0.2945,0.2968,0.331,,,,,,,,,,,,,,,,,,,
synonymous_variant,OR1D5,SILENT,NM_014566.1:p.Ala198Ala/c.594G>A,gcG/gcA,LOW,COSM4129828(1),,,rs2855605,,,,,,chr17,2966308,2966308,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala198Ala/c.594G>A|312|OR1D5|protein_coding|CODING|NM_014566.1|1|1),HepG2:H3K27me3,,,,,,,0.35,0.36,0.34,,,,,,,,,,,,,,,,
synonymous_variant,OR1A2,SILENT,NM_012352.1:p.Gly88Gly/c.264G>C,ggG/ggC,LOW,,0.864217,0.8185,rs2241092,,,,,,chr17,3101076,3101076,G,C,hom,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly88Gly/c.264G>C|309|OR1A2|protein_coding|CODING|NM_012352.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8978,0.7277,0.9404,0.92,0.88,0.94,,,,,,,,,,,,,,,,
missense_variant,OR1A2,MISSENSE,NM_012352.1:p.Arg260Cys/c.778C>T,Cgc/Tgc,MODERATE,,0.147764,0.001,rs2469791,0.38(T),0.175(B),1.65(L),-1.0035(T),,chr17,3101590,3101590,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg260Cys/c.778C>T|309|OR1A2|protein_coding|CODING|NM_012352.1|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1002,0.1571,0.2406,0.24,0.21,0.25,,0.004118(N),1.000(P),1.29(T),0.0000(T),0.266,-0.534700,4.0,-0.599,0.543000,-0.147000,-1.119000,0.177000,0.012000,0.000000,4.6096
synonymous_variant,OR1A1,SILENT,NM_014565.2:p.Leu32Leu/c.94T>C,Ttg/Ctg,LOW,,0.827276,0.7421,rs4325604,,,,,,chr17,3119008,3119008,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu32Leu/c.94T>C|309|OR1A1|protein_coding|CODING|NM_014565.2|1|1),,,,,0.9049,0.719,0.9125,0.90,0.84,0.93,,,,,,,,,,,,,,,,
synonymous_variant,OR1A1,SILENT,NM_014565.2:p.Thr253Thr/c.759A>G,acA/acG,LOW,,0.128994,0.004,rs386612561,,,,,,chr17,3119673,3119673,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr253Thr/c.759A>G|309|OR1A1|protein_coding|CODING|NM_014565.2|1|1),,,,,0.1135,0.1643,0.2803,0.24,0.13,0.29,,,,,,,,,,,,,,,,
missense_variant,OR1A1,MISSENSE,NM_014565.2:p.Pro285Ser/c.853C>T,Cct/Tct,MODERATE,COSM148149(1),0.342252,0.1438,rs386612562,0(D),0.543(P),3.635(H),-0.9980(T),,chr17,3119767,3119767,C,T,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro285Ser/c.853C>T|309|OR1A1|protein_coding|CODING|NM_014565.2|1|1),,,,,0.4121,0.33,0.492,0.45,0.36,0.49,,0.000106(D),0.006(P),-0.04(T),0.0000(T),0.459,3.976185,5.05,4.08,0.511000,1.350000,5.333000,0.887000,1.000000,1.000000,13.6842
synonymous_variant,OR1E1,SILENT,NM_003553.2:p.Asp52Asp/c.156C>T,gaC/gaT,LOW,COSM3766065(4),0.446286,0.4315,rs150988,,,,,,chr17,3301549,3301549,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp52Asp/c.156C>T|314|OR1E1|protein_coding|CODING|NM_003553.2|1|1),,,,,0.5573,0.5663,0.4016,0.38,0.37,0.39,,,,,,,,,,,,,,,,
synonymous_variant,OR1E2,SILENT,NM_003554.1:p.Pro292Pro/c.876T>C,ccT/ccC,LOW,COSM4129842(1),0.17492,0.002,rs61739591,,,,,,chr17,3336260,3336260,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro292Pro/c.876T>C|323|OR1E2|protein_coding|CODING|NM_003554.1|1|1),,,,,0.1646,0.2464,0.4543,0.37,0.14,0.48,,,,,,,,,,,,,,,,
missense_variant,OR1E2,MISSENSE,NM_003554.1:p.Cys27Arg/c.79T>C,Tgc/Cgc,MODERATE,,0.747005,0.7063,rs41333251,0(D),0.009(B),0.695(N),-1.0071(T),,chr17,3337057,3337057,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys27Arg/c.79T>C|323|OR1E2|protein_coding|CODING|NM_003554.1|1|1),,,,,0.6943,0.83,0.7525,,,,,0.131252(N),1.000(P),4.1(T),0.0000(T),0.215,2.409332,5.34,4.24,0.473000,2.252000,0.725000,0.717000,0.004000,0.278000,8.6651
synonymous_variant,SPATA22,SILENT,NM_001170695.1:p.Glu338Glu/c.1014A>G,gaA/gaG,LOW,,0.263379,0.4147,rs17822627,,,,,,chr17,3343519,3343519,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu338Glu/c.1014A>G|363|SPATA22|protein_coding|CODING|NM_001170695.1|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu295Glu/c.885A>G|320|SPATA22|protein_coding|CODING|NM_001170696.1|8|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu338Glu/c.1014A>G|363|SPATA22|protein_coding|CODING|NM_001170697.1|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu338Glu/c.1014A>G|363|SPATA22|protein_coding|CODING|NM_001170698.1|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu338Glu/c.1014A>G|363|SPATA22|protein_coding|CODING|NM_032598.4|9|1),3_prime_UTR_variant(MODIFIER||106|c.*106A>G|269|SPATA22|protein_coding|CODING|NM_001170699.1|8|1)",NHEK:H3K27me3,,,,0.2035,0.3501,0.1809,0.20,0.24,0.18,,,,,,,,,,,,,,,,
missense_variant,SPATA22,MISSENSE,NM_001170695.1:p.Ile160Thr/c.479T>C,aTa/aCa,MODERATE,,0.266973,0.4187,rs1488689,0.45(T),"0.003,0.002,0.003,0.003(B,B,B,B)",0.205(N),-0.9314(T),,chr17,3352294,3352294,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile160Thr/c.479T>C|363|SPATA22|protein_coding|CODING|NM_001170695.1|6|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile117Thr/c.350T>C|320|SPATA22|protein_coding|CODING|NM_001170696.1|5|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile160Thr/c.479T>C|363|SPATA22|protein_coding|CODING|NM_001170697.1|6|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile160Thr/c.479T>C|363|SPATA22|protein_coding|CODING|NM_001170698.1|6|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile160Thr/c.479T>C|269|SPATA22|protein_coding|CODING|NM_001170699.1|6|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile160Thr/c.479T>C|363|SPATA22|protein_coding|CODING|NM_032598.4|6|1)",,,,,0.2025,0.3501,0.1809,0.21,0.25,0.18,,0.246975(N),1.000(P),"2.28,2.3,2.31,2.29(T,T,T,T)",0.0000(T),0.192,-1.004215,3.87,2.79,0.454000,0.851000,0.736000,0.010000,0.003000,0.025000,6.7352
missense_variant,SPATA22,MISSENSE,NM_001170695.1:p.Gln155Arg/c.464A>G,cAa/cGa,MODERATE,COSM4129845(1),0.171526,0.002,rs11556563,0.15(T),"0.281,0.623,0.453,0.281(B,P,P,B)",0.805(L),-0.9085(T),,chr17,3352309,3352309,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln155Arg/c.464A>G|363|SPATA22|protein_coding|CODING|NM_001170695.1|6|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln112Arg/c.335A>G|320|SPATA22|protein_coding|CODING|NM_001170696.1|5|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln155Arg/c.464A>G|363|SPATA22|protein_coding|CODING|NM_001170697.1|6|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln155Arg/c.464A>G|363|SPATA22|protein_coding|CODING|NM_001170698.1|6|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln155Arg/c.464A>G|269|SPATA22|protein_coding|CODING|NM_001170699.1|6|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln155Arg/c.464A>G|363|SPATA22|protein_coding|CODING|NM_032598.4|6|1)",,,,,0.1524,0.2421,0.4523,0.37,0.14,0.48,,0.030870(N),1.000(P),"2.16,2.18,2.18,2.18(T,T,T,T)",0.0000(T),0.116,0.933511,5.07,0.123,0.454000,0.036000,0.202000,0.052000,0.008000,0.065000,5.2873
missense_variant,SPATA22,MISSENSE,NM_001170695.1:p.Val148Met/c.442G>A,Gtg/Atg,MODERATE,,0.266973,0.4187,rs1488690,0.33(T),"0.005,0.003,0.005,0.002(B,B,B,B)",0.55(N),-0.9734(T),,chr17,3352331,3352331,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val148Met/c.442G>A|363|SPATA22|protein_coding|CODING|NM_001170695.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val105Met/c.313G>A|320|SPATA22|protein_coding|CODING|NM_001170696.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val148Met/c.442G>A|363|SPATA22|protein_coding|CODING|NM_001170697.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val148Met/c.442G>A|363|SPATA22|protein_coding|CODING|NM_001170698.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val148Met/c.442G>A|269|SPATA22|protein_coding|CODING|NM_001170699.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val148Met/c.442G>A|363|SPATA22|protein_coding|CODING|NM_032598.4|6|1)",,,,,0.2025,0.3501,0.1809,0.21,0.25,0.18,,0.882007(N),1.000(P),"2.19,2.2,2.18,2.19(T,T,T,T)",0.0000(T),0.236,0.114227,5.07,-9.61,-0.417000,-1.929000,-1.651000,0.059000,0.019000,0.002000,15.7227
synonymous_variant,TRPV3,SILENT,NM_001258205.1:p.Asn778Asn/c.2334T>C,aaT/aaC,LOW,,0.00279553,0,rs74362949,,,,,,chr17,3417253,3417253,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn777Asn/c.2331T>C|790|TRPV3|protein_coding|CODING|NM_145068.3|18|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn778Asn/c.2334T>C|791|TRPV3|protein_coding|CODING|NM_001258205.1|18|1)","GM12878:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.0031,0.0029,0.0089,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,TRPV3,SILENT,NM_001258205.1:p.Asp641Asp/c.1923C>T,gaC/gaT,LOW,COSM3755411(1),0.66893,0.9524,rs7216486,,,,,,chr17,3422032,3422032,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp641Asp/c.1923C>T|791|TRPV3|protein_coding|CODING|NM_001258205.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp641Asp/c.1923C>T|790|TRPV3|protein_coding|CODING|NM_145068.3|15|1)","GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7454,0.5994,0.5517,0.53,0.55,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TRPV3,SILENT,NM_001258205.1:p.Ser626Ser/c.1878C>T,agC/agT,LOW,COSM148151(2),0.327676,0.3333,rs12946883,,,,,,chr17,3422077,3422077,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser626Ser/c.1878C>T|791|TRPV3|protein_coding|CODING|NM_001258205.1|15|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser626Ser/c.1878C>T|790|TRPV3|protein_coding|CODING|NM_145068.3|15|1)","GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3998,0.2478,0.2873,0.30,0.34,0.28,,,,,,,,,,,,,,,,
synonymous_variant,TRPV3,SILENT,NM_001258205.1:p.Ile186Ile/c.558A>C,atA/atC,LOW,,0.579073,0.746,rs11078458,,,,,,chr17,3445901,3445901,T,G,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile186Ile/c.558A>C|791|TRPV3|protein_coding|CODING|NM_001258205.1|6|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile186Ile/c.558A>C|790|TRPV3|protein_coding|CODING|NM_145068.3|6|1)","GM12878:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.6922,0.7305,0.5994,0.51,0.34,0.61,,,,,,,,,,,,,,,,
synonymous_variant,TRPV3,SILENT,NM_001258205.1:p.Gln90Gln/c.270G>A,caG/caA,LOW,,0.66254,0.7937,rs1039519,,,,,,chr17,3447914,3447914,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln90Gln/c.270G>A|791|TRPV3|protein_coding|CODING|NM_001258205.1|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln90Gln/c.270G>A|790|TRPV3|protein_coding|CODING|NM_145068.3|4|1)","GM12878:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.6789,0.7781,0.5885,0.59,0.56,0.60,,,,,,,,,,,,,,,,
missense_variant,TRPV3,MISSENSE,NM_001258205.1:p.Ile25Val/c.73A>G,Atc/Gtc,MODERATE,,0.997204,1,rs322965,0.56(T),"0.0,0.0,0.0(B,B,B)",-0.345(N),-1.0241(T),,chr17,3458072,3458072,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile25Val/c.73A>G|791|TRPV3|protein_coding|CODING|NM_001258205.1|2|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile25Val/c.73A>G|790|TRPV3|protein_coding|CODING|NM_145068.3|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,0.949300(N),1.000(P),1.19(T),0.0000(T),0.022,-2.292033,4.79,-0.188,-0.355000,-0.110000,-1.999000,0.082000,0.082000,0.000000,5.5124
missense_variant,TRPV1,MISSENSE,NM_018727.5:p.Met315Ile/c.945G>C,atG/atC,MODERATE,COSM3927728(1),0.733427,0.4425,rs222747,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.085(N),-0.9574(T),,chr17,3493200,3493200,C,G,hom,"missense_variant(MODERATE|MISSENSE|atG/atC|p.Met315Ile/c.945G>C|839|TRPV1|protein_coding|CODING|NM_018727.5|6|1),missense_variant(MODERATE|MISSENSE|atG/atC|p.Met315Ile/c.945G>C|839|TRPV1|protein_coding|CODING|NM_080704.3|7|1),missense_variant(MODERATE|MISSENSE|atG/atC|p.Met315Ile/c.945G>C|839|TRPV1|protein_coding|CODING|NM_080705.3|6|1),missense_variant(MODERATE|MISSENSE|atG/atC|p.Met315Ile/c.945G>C|839|TRPV1|protein_coding|CODING|NM_080706.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.771,0.7781,0.7525,0.80,0.88,0.76,,0.007149(N),1.000(P),"-0.54,-0.54,-0.54,-0.54,-0.54(T,T,T,T,T)",0.0000(T),0.152,-0.722241,4.88,2.85,-0.352000,0.609000,0.766000,0.694000,1.000000,1.000000,7.0002
missense_variant,SHPK,MISSENSE,NM_013276.2:p.Asp421Glu/c.1263C>G,gaC/gaG,MODERATE,,0.999401,1,rs224496,0.4(T),0.0(B),-2.14(N),-1.0136(T),,chr17,3514028,3514028,G,C,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp421Glu/c.1263C>G|478|SHPK|protein_coding|CODING|NM_013276.2|7|1),upstream_gene_variant(MODIFIER||1323||839|TRPV1|protein_coding|CODING|NM_080704.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.019128(N),1.000(P),2.32(T),0.0000(T),0.127,-2.002756,4.66,0.309,-0.215000,-0.055000,0.025000,0.060000,0.795000,0.909000,5.9384
missense_variant,CTNS,MISSENSE,NM_001031681.2:p.Ser39Leu/c.116C>T,tCg/tTg,MODERATE,,0.000798722,0,rs144751390,0.03(D),"0.041,0.088(B,B)",2.175(M),0.5699(D),,chr17,3550792,3550792,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser39Leu/c.116C>T|400|CTNS|protein_coding|CODING|NM_001031681.2|4|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser39Leu/c.116C>T|367|CTNS|protein_coding|CODING|NM_004937.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.001,0.00,0.00,0.00,,0.000479(D),1.000(D),"-3.76,-3.79,1.57,1.57(D,D,T,T)",0.7236(D),0.669,3.357204,5.02,5.02,0.655000,2.720000,2.390000,0.007000,0.839000,0.872000,14.5729
missense_variant,CTNS,MISSENSE,NM_001031681.2:p.Thr260Ile/c.779C>T,aCc/aTc,MODERATE,,0.818291,0.9256,rs161400,0.78(T),"0.001,0.0,0.001(B,B,B)",-1.365(N),-0.9477(T),,chr17,3561396,3561396,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr260Ile/c.779C>T|400|CTNS|protein_coding|CODING|NM_001031681.2|10|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr260Ile/c.779C>T|367|CTNS|protein_coding|CODING|NM_004937.2|10|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9264,0.9179,0.9414,0.83,0.60,0.96,,0.000067(N),0.000(P),"-3.6,-3.61,-4.16,-4.03(D,D,D,D)",0.0000(T),0.078,1.080957,5.24,2.87,0.655000,1.336000,2.395000,0.608000,0.945000,1.000000,4.6668
missense_variant,CTNS,MISSENSE,NM_001031681.2:p.Pro380Ala/c.1138C>G,Cca/Gca,MODERATE,COSM3721369(2),0.228634,0.503,rs2873624,0.63(T),"0.004,0.004(B,B)",0(N),-1.0088(T),,chr17,3563963,3563963,C,G,het,"missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro380Ala/c.1138C>G|400|CTNS|protein_coding|CODING|NM_001031681.2|13|1),3_prime_UTR_variant(MODIFIER||300|c.*300C>G|367|CTNS|protein_coding|CODING|NM_004937.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.2882,0.2167,0.19,0.05,0.26,,0.629221(N),1.000(P),"-3.56,-4.03(D,D)",0.0000(T),0.055,-0.849610,4.56,1.44,-0.268000,0.408000,0.328000,0.012000,0.000000,0.000000,4.5312
synonymous_variant,TAX1BP3,SILENT,NM_014604.3:p.Asp40Asp/c.120T>C,gaT/gaC,LOW,,0.792532,0.6746,rs386420898,,,,,,chr17,3568012,3568012,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp40Asp/c.120T>C|98|TAX1BP3|protein_coding|CODING|NM_001204698.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp40Asp/c.120T>C|124|TAX1BP3|protein_coding|CODING|NM_014604.3|2|1),downstream_gene_variant(MODIFIER||1615||400|CTNS|protein_coding|CODING|NM_001031681.2||1),downstream_gene_variant(MODIFIER||1615||367|CTNS|protein_coding|CODING|NM_004937.2||1),non_coding_exon_variant(MODIFIER|||n.5175T>C||P2RX5-TAX1BP3||NON_CODING|NR_037928.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.774,0.8473,0.8887,0.87,0.82,0.89,,,,,,,,,,,,,,,,
synonymous_variant,ITGAE,SILENT,NM_002208.4:p.Arg721Arg/c.2163C>T,cgC/cgT,LOW,COSM3766074(3),0.715056,0.4524,rs1183610,,,,,,chr17,3649214,3649214,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg721Arg/c.2163C>T|1179|ITGAE|protein_coding|CODING|NM_002208.4|18|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.5041,0.8271,0.831,0.83,0.91,0.79,,,,,,,,,,,,,,,,
missense_variant,ITGAE,MISSENSE,NM_002208.4:p.Arg482Gln/c.1445G>A,cGg/cAg,MODERATE,COSM3766075(3),0.554313,0.2341,rs2272606,0(D),0.058(B),2.23(M),-0.9748(T),,chr17,3657159,3657159,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg482Gln/c.1445G>A|1179|ITGAE|protein_coding|CODING|NM_002208.4|13|1),IMR90:H3K27me3,,,,0.4131,0.5245,0.7515,0.73,0.74,0.72,,,1.000(P),1.04(T),0.0000(T),0.107,1.214581,4.73,0.437,0.462000,0.033000,-0.221000,0.092000,0.019000,0.000000,7.4304
missense_variant,ITGAE,MISSENSE,NM_002208.4:p.Ile477Val/c.1429A>G,Atc/Gtc,MODERATE,COSM3766076(3),0.710264,0.4058,rs220479,1(T),0.002(B),-1.235(N),-1.0052(T),,chr17,3657175,3657175,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile477Val/c.1429A>G|1179|ITGAE|protein_coding|CODING|NM_002208.4|13|1),IMR90:H3K27me3,,,,0.5583,0.6167,0.8618,0.86,0.96,0.82,,,1.000(P),2.37(T),0.0000(T),0.037,-2.501285,4.56,-3.83,-1.403000,-0.905000,-0.538000,0.003000,0.002000,0.001000,6.7004
synonymous_variant,ATP2A3,SILENT,NM_174955.2:p.Arg1034Arg/c.3102A>G,agA/agG,LOW,COSM3766079(1),0.286342,0.2857,rs887387,,,,,,chr17,3828702,3828702,T,C,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg1034Arg/c.3102A>G|1043|ATP2A3|protein_coding|CODING|NM_174955.2|22|1),3_prime_UTR_variant(MODIFIER||14|c.*14A>G|999|ATP2A3|protein_coding|CODING|NM_005173.3|21|1),3_prime_UTR_variant(MODIFIER||14|c.*14A>G|1052|ATP2A3|protein_coding|CODING|NM_174953.2|23|1),3_prime_UTR_variant(MODIFIER||14|c.*14A>G|998|ATP2A3|protein_coding|CODING|NM_174957.2|21|1),3_prime_UTR_variant(MODIFIER||25|c.*25A>G|1044|ATP2A3|protein_coding|CODING|NM_174954.2|23|1),3_prime_UTR_variant(MODIFIER||25|c.*25A>G|1029|ATP2A3|protein_coding|CODING|NM_174956.2|22|1),3_prime_UTR_variant(MODIFIER||25|c.*25A>G|1029|ATP2A3|protein_coding|CODING|NM_174958.2|22|1)","K562:PolII,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2669,0.4424,0.335,0.33,0.22,0.38,,,,,,,,,,,,,,,,
synonymous_variant,ATP2A3,SILENT,NM_174953.2:p.Ile716Ile/c.2148C>T,atC/atT,LOW,,0.00179712,0,rs148008479,,,,,,chr17,3840883,3840883,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile716Ile/c.2148C>T|999|ATP2A3|protein_coding|CODING|NM_005173.3|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile716Ile/c.2148C>T|1052|ATP2A3|protein_coding|CODING|NM_174953.2|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile716Ile/c.2148C>T|1044|ATP2A3|protein_coding|CODING|NM_174954.2|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile716Ile/c.2148C>T|1043|ATP2A3|protein_coding|CODING|NM_174955.2|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile716Ile/c.2148C>T|1029|ATP2A3|protein_coding|CODING|NM_174956.2|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile716Ile/c.2148C>T|998|ATP2A3|protein_coding|CODING|NM_174957.2|15|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile716Ile/c.2148C>T|1029|ATP2A3|protein_coding|CODING|NM_174958.2|15|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0,0.0014,0.007,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,ATP2A3,SILENT,NM_174953.2:p.Ala569Ala/c.1707G>C,gcG/gcC,LOW,,0.147963,0.004,rs1800912,,,,,,chr17,3844787,3844787,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala569Ala/c.1707G>C|999|ATP2A3|protein_coding|CODING|NM_005173.3|13|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala569Ala/c.1707G>C|1052|ATP2A3|protein_coding|CODING|NM_174953.2|13|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala569Ala/c.1707G>C|1044|ATP2A3|protein_coding|CODING|NM_174954.2|13|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala569Ala/c.1707G>C|1043|ATP2A3|protein_coding|CODING|NM_174955.2|13|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala569Ala/c.1707G>C|1029|ATP2A3|protein_coding|CODING|NM_174956.2|13|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala569Ala/c.1707G>C|998|ATP2A3|protein_coding|CODING|NM_174957.2|13|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala569Ala/c.1707G>C|1029|ATP2A3|protein_coding|CODING|NM_174958.2|13|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.093,0.2637,0.2515,0.22,0.18,0.25,,,,,,,,,,,,,,,,
synonymous_variant,ATP2A3,SILENT,NM_174953.2:p.Thr506Thr/c.1518T>C,acT/acC,LOW,COSM3766083(2),0.384784,0.0873,rs17846889,,,,,,chr17,3845927,3845927,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr506Thr/c.1518T>C|999|ATP2A3|protein_coding|CODING|NM_005173.3|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr506Thr/c.1518T>C|1052|ATP2A3|protein_coding|CODING|NM_174953.2|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr506Thr/c.1518T>C|1044|ATP2A3|protein_coding|CODING|NM_174954.2|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr506Thr/c.1518T>C|1043|ATP2A3|protein_coding|CODING|NM_174955.2|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr506Thr/c.1518T>C|1029|ATP2A3|protein_coding|CODING|NM_174956.2|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr506Thr/c.1518T>C|998|ATP2A3|protein_coding|CODING|NM_174957.2|12|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr506Thr/c.1518T>C|1029|ATP2A3|protein_coding|CODING|NM_174958.2|12|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2883,0.4712,0.4553,0.50,0.57,0.46,,,,,,,,,,,,,,,,
synonymous_variant,ATP2A3,SILENT,NM_174953.2:p.Tyr434Tyr/c.1302T>C,taT/taC,LOW,COSM3755465(1),0.333267,0.0843,rs758641,,,,,,chr17,3846802,3846802,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr434Tyr/c.1302T>C|999|ATP2A3|protein_coding|CODING|NM_005173.3|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr434Tyr/c.1302T>C|1052|ATP2A3|protein_coding|CODING|NM_174953.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr434Tyr/c.1302T>C|1044|ATP2A3|protein_coding|CODING|NM_174954.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr434Tyr/c.1302T>C|1043|ATP2A3|protein_coding|CODING|NM_174955.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr434Tyr/c.1302T>C|1029|ATP2A3|protein_coding|CODING|NM_174956.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr434Tyr/c.1302T>C|998|ATP2A3|protein_coding|CODING|NM_174957.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr434Tyr/c.1302T>C|1029|ATP2A3|protein_coding|CODING|NM_174958.2|11|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2904,0.4582,0.4563,0.44,0.39,0.46,,,,,,,,,,,,,,,,
synonymous_variant,ATP2A3,SILENT,NM_174953.2:p.Ala424Ala/c.1272T>G,gcT/gcG,LOW,COSM3755467(1),0.336262,0.0843,rs1800911,,,,,,chr17,3848013,3848013,A,C,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala424Ala/c.1272T>G|999|ATP2A3|protein_coding|CODING|NM_005173.3|10|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala424Ala/c.1272T>G|1052|ATP2A3|protein_coding|CODING|NM_174953.2|10|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala424Ala/c.1272T>G|1044|ATP2A3|protein_coding|CODING|NM_174954.2|10|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala424Ala/c.1272T>G|1043|ATP2A3|protein_coding|CODING|NM_174955.2|10|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala424Ala/c.1272T>G|1029|ATP2A3|protein_coding|CODING|NM_174956.2|10|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala424Ala/c.1272T>G|998|ATP2A3|protein_coding|CODING|NM_174957.2|10|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala424Ala/c.1272T>G|1029|ATP2A3|protein_coding|CODING|NM_174958.2|10|1)","K562:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.2894,0.4597,0.4573,0.44,0.39,0.46,,,,,,,,,,,,,,,,
missense_variant,ZZEF1,MISSENSE,NM_015113.3:p.Val30Ala/c.89T>C,gTc/gCc,MODERATE,COSM3755556(1),0.804313,1,rs1454121,0.23(T),"0.0,0.0(B,B)",0(N),-1.0285(T),,chr17,4046101,4046101,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val30Ala/c.89T>C|2961|ZZEF1|protein_coding|CODING|NM_015113.3|1|1),upstream_gene_variant(MODIFIER||361||152|CYB5D2|protein_coding|CODING|NM_001254756.1||1),upstream_gene_variant(MODIFIER||361||264|CYB5D2|protein_coding|CODING|NM_144611.3||1),upstream_gene_variant(MODIFIER||814||152|CYB5D2|protein_coding|CODING|NM_001254755.1||1)","NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,GM12878:H3K79me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HeLa-S3:PolII,IMR90:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.953,0.8617,0.8529,,,,,0.247743(N),1.000(P),2.19(T),0.0000(T),0.078,1.999923,4.8,1.17,-0.527000,0.760000,0.278000,0.882000,0.021000,0.343000,0.9962
synonymous_variant,ANKFY1,SILENT,NM_001257999.1:p.Thr549Thr/c.1647G>A,acG/acA,LOW,,0.774361,0.9534,rs2020118,,,,,,chr17,4088291,4088291,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr549Thr/c.1647G>A|1211|ANKFY1|protein_coding|CODING|NM_001257999.1|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr507Thr/c.1521G>A|1170|ANKFY1|protein_coding|CODING|NM_016376.3|12|1),non_coding_exon_variant(MODIFIER|||n.1440G>A||ANKFY1||CODING|NR_047571.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.818,0.8343,0.9115,0.79,0.53,0.92,,,,,,,,,,,,,,,,
synonymous_variant,SPNS3,SILENT,NM_182538.4:p.Arg244Arg/c.732G>A,agG/agA,LOW,,0.2498,0.1151,rs12450838,,,,,,chr17,4351560,4351560,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg244Arg/c.732G>A|512|SPNS3|protein_coding|CODING|NM_182538.4|6|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.365,0.4669,0.3469,0.28,0.12,0.37,,,,,,,,,,,,,,,,
synonymous_variant,SPNS3,SILENT,NM_182538.4:p.Phe260Phe/c.780C>T,ttC/ttT,LOW,COSM3755592(1),0.483227,0.1577,rs7224464,,,,,,chr17,4352539,4352539,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe260Phe/c.780C>T|512|SPNS3|protein_coding|CODING|NM_182538.4|7|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5215,0.6729,0.6998,0.63,0.46,0.72,,,,,,,,,,,,,,,,
missense_variant,SPNS3,MISSENSE,NM_182538.4:p.Ala330Ser/c.988G>T,Gcg/Tcg,MODERATE,COSM4130165(1),0.245008,0.1091,rs11655342,1(T),"0.009,0.032(B,B)",-0.135(N),-0.9772(T),,chr17,4356375,4356375,G,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala330Ser/c.988G>T|512|SPNS3|protein_coding|CODING|NM_182538.4|8|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4018,0.4582,0.3459,0.27,0.09,0.36,,0.032119(N),1.000(P),"0.46,0.46(T,T)",0.0000(T),0.048,-1.224667,4.68,-1.19,0.442000,-0.372000,0.283000,0.456000,0.179000,0.004000,8.7901
synonymous_variant,MYBBP1A,SILENT,NM_001105538.1:p.Ala275Ala/c.825A>G,gcA/gcG,LOW,COSM4130175(1),0.992812,1,rs7206974,,,,,,chr17,4455500,4455500,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala275Ala/c.825A>G|1332|MYBBP1A|protein_coding|CODING|NM_001105538.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala275Ala/c.825A>G|1328|MYBBP1A|protein_coding|CODING|NM_014520.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
stop_gained,GGT6,NONSENSE,NM_001288703.1:p.Arg152*/c.454C>T,Cga/Tga,HIGH,COSM3755602(2),0.496805,0.7421,rs7215121,,,,,,chr17,4461748,4461748,G,A,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg152*/c.454C>T|198|GGT6|protein_coding|CODING|NM_001288703.1|4|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg120*/c.358C>T|166|GGT6|protein_coding|CODING|NM_001288704.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro348Pro/c.1044C>T|493|GGT6|protein_coding|CODING|NM_001122890.2|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro354Pro/c.1062C>T|499|GGT6|protein_coding|CODING|NM_001288702.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro316Pro/c.948C>T|461|GGT6|protein_coding|CODING|NM_153338.3|3|1)",,,,,0.5982,0.3718,0.3986,0.38,0.37,0.39,,,,,,,,,,,,,,,,
synonymous_variant,GGT6,SILENT,NM_001288702.1:p.Gly182Gly/c.546C>T,ggC/ggT,LOW,COSM3691633(1),0.00219649,0,rs200487392,,,,,,chr17,4462264,4462264,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly176Gly/c.528C>T|493|GGT6|protein_coding|CODING|NM_001122890.2|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly182Gly/c.546C>T|499|GGT6|protein_coding|CODING|NM_001288702.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly144Gly/c.432C>T|461|GGT6|protein_coding|CODING|NM_153338.3|3|1),intron_variant(MODIFIER|||c.439+374C>T|198|GGT6|protein_coding|CODING|NM_001288703.1|3|1),intron_variant(MODIFIER|||c.344-502C>T|166|GGT6|protein_coding|CODING|NM_001288704.1|2|1)",,,,,0,0,0.0099,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,GGT6,MISSENSE,NM_001288702.1:p.Ala58Val/c.173C>T,gCc/gTc,MODERATE,,0.755391,0.8909,rs11657054,0.05(D),"0.14,0.453(B,P)",2.015(M),-1.0975(T),,chr17,4463023,4463023,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala58Val/c.173C>T|493|GGT6|protein_coding|CODING|NM_001122890.2|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala58Val/c.173C>T|499|GGT6|protein_coding|CODING|NM_001288702.1|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala58Val/c.173C>T|198|GGT6|protein_coding|CODING|NM_001288703.1|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala58Val/c.173C>T|166|GGT6|protein_coding|CODING|NM_001288704.1|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala58Val/c.173C>T|461|GGT6|protein_coding|CODING|NM_153338.3|2|1)",,,,,0.7352,0.7896,0.7674,0.74,0.69,0.77,,0.282373(N),0.000(P),"2.45,1.45(T,T)",0.0000(T),0.1,4.063155,5.26,4.29,0.655000,1.377000,2.357000,0.133000,0.936000,0.886000,10.0217
missense_variant,GGT6,MISSENSE,NM_001288702.1:p.Arg40Trp/c.118C>T,Cgg/Tgg,MODERATE,COSM3755603(2),0.178315,0.1577,rs386608444,0.07(T),"0.0,0.0,0.0(B,B,B)",-0.145(N),-0.9511(T),,chr17,4463699,4463699,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg40Trp/c.118C>T|493|GGT6|protein_coding|CODING|NM_001122890.2|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg40Trp/c.118C>T|499|GGT6|protein_coding|CODING|NM_001288702.1|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg40Trp/c.118C>T|198|GGT6|protein_coding|CODING|NM_001288703.1|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg40Trp/c.118C>T|166|GGT6|protein_coding|CODING|NM_001288704.1|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg40Trp/c.118C>T|461|GGT6|protein_coding|CODING|NM_153338.3|1|1)",HMEC:H3K4me1,,,,0.2975,0.1816,0.2674,0.20,0.07,0.27,,0.635030(N),1.000(P),"2.36,1.75(T,T)",0.0000(T),0.105,1.573159,4.18,0.734,-0.254000,-0.149000,-0.374000,0.397000,0.048000,0.000000,3.4582
synonymous_variant,GGT6,SILENT,NM_001288702.1:p.Pro7Pro/c.21C>T,ccC/ccT,LOW,,0.147764,0.0942,rs7216474,,,,,,chr17,4463796,4463796,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro7Pro/c.21C>T|493|GGT6|protein_coding|CODING|NM_001122890.2|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro7Pro/c.21C>T|499|GGT6|protein_coding|CODING|NM_001288702.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro7Pro/c.21C>T|198|GGT6|protein_coding|CODING|NM_001288703.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro7Pro/c.21C>T|166|GGT6|protein_coding|CODING|NM_001288704.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro7Pro/c.21C>T|461|GGT6|protein_coding|CODING|NM_153338.3|1|1)","NH-A:H3K27me3,HMEC:H3K4me1",,,,0.2566,0.111,0.2286,0.18,0.08,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SMTNL2,SILENT,NM_001114974.1:p.Glu142Glu/c.426G>A,gaG/gaA,LOW,,0.172923,0.126,rs4790654,,,,,,chr17,4495682,4495682,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu142Glu/c.426G>A|461|SMTNL2|protein_coding|CODING|NM_001114974.1|2|1),5_prime_UTR_variant(MODIFIER||7|c.-7G>A|317|SMTNL2|protein_coding|CODING|NM_198501.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1943,0.1369,0.1799,0.18,0.20,0.18,,,,,,,,,,,,,,,,
synonymous_variant,SMTNL2,SILENT,NM_001114974.1:p.Tyr258Tyr/c.774T>C,taT/taC,LOW,COSM3766106(1),0.682708,0.8462,rs8080130,,,,,,chr17,4497160,4497160,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr258Tyr/c.774T>C|461|SMTNL2|protein_coding|CODING|NM_001114974.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr114Tyr/c.342T>C|317|SMTNL2|protein_coding|CODING|NM_198501.2|4|1)","NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7035,0.7709,0.6441,0.62,0.55,0.65,,,,,,,,,,,,,,,,
synonymous_variant,SMTNL2,SILENT,NM_001114974.1:p.Thr326Thr/c.978G>A,acG/acA,LOW,,0.165535,0.0992,rs12103697,,,,,,chr17,4498611,4498611,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr326Thr/c.978G>A|461|SMTNL2|protein_coding|CODING|NM_001114974.1|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr182Thr/c.546G>A|317|SMTNL2|protein_coding|CODING|NM_198501.2|5|1)","GM06990:H3K27me3,K562:CTCF,H1ESC:DNase1,GM12878:CTCF,HUVEC:DNase1,HMEC:H3K27me3,HMEC:CTCF,K562:Rad21,HepG2:CTCF,IMR90:H3K27me3,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.2219,0.1657,0.3022,0.22,0.10,0.28,,,,,,,,,,,,,,,,
synonymous_variant,PELP1,SILENT,NM_014389.2:p.Pro1051Pro/c.3153T>C,ccT/ccC,LOW,,0.842252,1,rs3862485,,,,,,chr17,4575283,4575283,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1051Pro/c.3153T>C|1180|PELP1|protein_coding|CODING|NM_014389.2|16|1),intron_variant(MODIFIER|||c.2437-106T>C|906|PELP1|protein_coding|CODING|NM_001278241.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9315,0.902,0.9374,0.84,0.62,0.94,,,,,,,,,,,,,,,,
synonymous_variant,ARRB2,SILENT,NM_001257328.1:p.Ser301Ser/c.903C>T,agC/agT,LOW,,0.669529,0.8254,rs1045280,,,,,,chr17,4622638,4622638,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser301Ser/c.903C>T|430|ARRB2|protein_coding|CODING|NM_001257328.1|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser280Ser/c.840C>T|421|ARRB2|protein_coding|CODING|NM_001257330.1|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser265Ser/c.795C>T|406|ARRB2|protein_coding|CODING|NM_001257331.1|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser280Ser/c.840C>T|409|ARRB2|protein_coding|CODING|NM_004313.3|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser265Ser/c.795C>T|394|ARRB2|protein_coding|CODING|NM_199004.1|10|1),intron_variant(MODIFIER|||c.782+655C>T|330|ARRB2|protein_coding|CODING|NM_001257329.1|11|1),non_coding_exon_variant(MODIFIER|||n.1037C>T||ARRB2||CODING|NR_047516.1|10|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8119,0.7205,0.6879,0.60,0.45,0.68,,,,,,,,,,,,,,,,
synonymous_variant,CXCL16,SILENT,NM_001100812.1:p.Pro226Pro/c.678A>G,ccA/ccG,LOW,COSM148159(1),0.530751,0.5933,rs1876444,,,,,,chr17,4638484,4638484,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro226Pro/c.678A>G|273|CXCL16|protein_coding|CODING|NM_001100812.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro226Pro/c.678A>G|273|CXCL16|protein_coding|CODING|NM_022059.3|4|1),downstream_gene_variant(MODIFIER||1588||117|MED11|protein_coding|CODING|NM_001001683.2||1)","H1ESC:H3K27me3,HepG2:HNF4A,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6237,0.5764,0.5765,0.51,0.39,0.57,,,,,,,,,,,,,,,,
missense_variant,CXCL16,MISSENSE,NM_001100812.1:p.Ala200Val/c.599C>T,gCt/gTt,MODERATE,,0.461462,0.5804,rs2277680,0.46(T),0.004(B),-0.205(N),-0.9277(T),,chr17,4638563,4638563,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala200Val/c.599C>T|273|CXCL16|protein_coding|CODING|NM_001100812.1|4|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala200Val/c.599C>T|273|CXCL16|protein_coding|CODING|NM_022059.3|4|1),downstream_gene_variant(MODIFIER||1667||117|MED11|protein_coding|CODING|NM_001001683.2||1)","H1ESC:H3K27me3,HepG2:HNF4A,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5716,0.4813,0.4394,0.39,0.31,0.44,,0.641717(N),1.000(P),1.22(T),0.0000(T),0.023,0.624211,5.31,-2.64,-1.214000,-0.477000,-0.819000,0.003000,0.000000,0.000000,13.3114
missense_variant,CXCL16,MISSENSE,NM_001100812.1:p.Ile142Thr/c.425T>C,aTt/aCt,MODERATE,COSM148160(2),0.463259,0.5883,rs1050998,0.43(T),0.003(B),-0.145(N),-0.9936(T),,chr17,4638737,4638737,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile142Thr/c.425T>C|273|CXCL16|protein_coding|CODING|NM_001100812.1|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile142Thr/c.425T>C|273|CXCL16|protein_coding|CODING|NM_022059.3|4|1),downstream_gene_variant(MODIFIER||1841||117|MED11|protein_coding|CODING|NM_001001683.2||1)","H1ESC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5726,0.4813,0.4394,0.39,0.31,0.44,,0.181791(N),1.000(P),1.22(T),0.0000(T),0.205,0.654588,5.39,-10.8,-1.759000,-2.302000,-0.475000,0.001000,0.000000,0.000000,11.7582
synonymous_variant,CXCL16,SILENT,NM_001100812.1:p.Gly102Gly/c.306G>A,ggG/ggA,LOW,COSM4130339(1),0.624002,0.6944,rs1050997,,,,,,chr17,4641755,4641755,C,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly102Gly/c.306G>A|273|CXCL16|protein_coding|CODING|NM_001100812.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly102Gly/c.306G>A|273|CXCL16|protein_coding|CODING|NM_022059.3|3|1),upstream_gene_variant(MODIFIER||1555||742|ZMYND15|protein_coding|CODING|NM_001136046.2||1),upstream_gene_variant(MODIFIER||1555||750|ZMYND15|protein_coding|CODING|NM_001267822.1||1),upstream_gene_variant(MODIFIER||1555||703|ZMYND15|protein_coding|CODING|NM_032265.2||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,K562:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,NHEK:H3K4me2,HSMM:H3K27me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.6646,0.6816,0.7913,0.67,0.46,0.77,,,,,,,,,,,,,,,,
synonymous_variant,ZMYND15,SILENT,NM_001267822.1:p.His314His/c.942T>C,caT/caC,LOW,COSM3766115(1),0.256589,0.1438,rs3826517,,,,,,chr17,4645324,4645324,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His314His/c.942T>C|742|ZMYND15|protein_coding|CODING|NM_001136046.2|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His314His/c.942T>C|750|ZMYND15|protein_coding|CODING|NM_001267822.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His314His/c.942T>C|703|ZMYND15|protein_coding|CODING|NM_032265.2|4|1)","GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4008,0.3271,0.4642,0.34,0.11,0.45,,,,,,,,,,,,,,,,
synonymous_variant,ZMYND15,SILENT,NM_001267822.1:p.Ala687Ala/c.2061G>T,gcG/gcT,LOW,,,,,,,,,,chr17,4648650,4648650,G,T,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala679Ala/c.2037G>T|742|ZMYND15|protein_coding|CODING|NM_001136046.2|13|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala687Ala/c.2061G>T|750|ZMYND15|protein_coding|CODING|NM_001267822.1|13|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala640Ala/c.1920G>T|703|ZMYND15|protein_coding|CODING|NM_032265.2|12|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,TM4SF5,SILENT,NM_003963.2:p.Pro63Pro/c.189G>A,ccG/ccA,LOW,COSM3755625(2),0.326677,0.1865,rs13520,,,,,,chr17,4684095,4684095,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro63Pro/c.189G>A|197|TM4SF5|protein_coding|CODING|NM_003963.2|2|1),"HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4172,0.4337,0.5089,0.42,0.24,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TM4SF5,SILENT,NM_003963.2:p.Thr195Thr/c.585A>C,acA/acC,LOW,COSM4000185(1),0.409744,0.4504,rs3851,,,,,,chr17,4686414,4686414,A,C,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr195Thr/c.585A>C|197|TM4SF5|protein_coding|CODING|NM_003963.2|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6534,0.2882,0.3986,0.37,0.31,0.40,,,,,,,,,,,,,,,,
missense_variant,VMO1,MISSENSE,NM_182566.2:p.Thr26Ala/c.76A>G,Aca/Gca,MODERATE,,0.533546,0.5516,rs4790706,0.6(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.805(N),-0.9462(T),,chr17,4689572,4689572,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr26Ala/c.76A>G|114|VMO1|protein_coding|CODING|NM_001144939.1|1|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr26Ala/c.76A>G|102|VMO1|protein_coding|CODING|NM_001144940.1|1|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr26Ala/c.76A>G|70|VMO1|protein_coding|CODING|NM_001144941.1|1|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr26Ala/c.76A>G|202|VMO1|protein_coding|CODING|NM_182566.2|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3",,,,0.7117,0.4957,0.5348,0.50,0.45,0.53,,0.170489(N),1.000(P),"1.33,1.33,1.33,1.33(T,T,T,T)",0.0000(T),0.015,-0.225681,5.57,-3.6,-1.096000,-0.778000,0.070000,0.004000,0.000000,0.000000,1.4357
missense_variant,GLTPD2,MISSENSE,NM_001014985.2:p.Val152Ala/c.455T>C,gTg/gCg,MODERATE,COSM3755631(3),0.989018,1,rs34850425,0.74(T),0.0(B),-0.69(N),-1.0244(T),,chr17,4693170,4693170,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val152Ala/c.455T>C|291|GLTPD2|protein_coding|CODING|NM_001014985.2|4|1),"NHEK:CTCF,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,K562:Cmyc,K562:CTCFL,HMEC:CTCF,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ",,,,1,1,1,0.99,0.97,1.00,,,1.000(P),,0.0000(T),0.021,-1.172563,4.59,-1.06,-2.147000,-0.620000,-0.183000,0.024000,0.000000,0.001000,5.0552
missense_variant,GLTPD2,MISSENSE,NM_001014985.2:p.Asp209Glu/c.627C>A,gaC/gaA,MODERATE,COSM3749405(15),0.979233,1,rs35910358,0.63(T),0.133(B),1.25(L),-0.9820(T),,chr17,4693342,4693342,C,A,hom,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp209Glu/c.627C>A|291|GLTPD2|protein_coding|CODING|NM_001014985.2|4|1),"NHEK:CTCF,NHEK:H3K9ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,GM12878:EBF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,GM12878:Rad21,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20,GM06990:CTCF",,,,1,1,0.998,0.99,0.97,1.00,,,1.000(P),,0.0000(T),0.065,1.017148,4.58,0.162,0.555000,-0.068000,0.011000,0.081000,0.082000,0.004000,5.889
missense_variant,GLTPD2,MISSENSE,NM_001014985.2:p.Val265Leu/c.793G>C,Gtc/Ctc,MODERATE,,0.979233,1,rs34421346,0.31(T),0.0(B),0(N),-1.0337(T),,chr17,4693508,4693508,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val265Leu/c.793G>C|291|GLTPD2|protein_coding|CODING|NM_001014985.2|4|1),"NHEK:CTCF,NHEK:H3K9ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,GM12878:Rad21,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,H1ESC:CTCF,HeLa-S3:E2F6,GM12878:Sin3Ak20,GM06990:CTCF",,,,1,1,0.998,0.99,0.97,1.00,,,1.000(P),,0.0000(T),0.066,1.120086,4.46,1.12,0.462000,0.496000,-0.070000,0.170000,0.828000,0.001000,3.4437
synonymous_variant,PLD2,SILENT,NM_002663.4:p.Glu393Glu/c.1179G>A,gaG/gaA,LOW,,0.6252,0.6349,rs1132448,,,,,,chr17,4718776,4718776,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu393Glu/c.1179G>A|922|PLD2|protein_coding|CODING|NM_001243108.1|13|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu393Glu/c.1179G>A|933|PLD2|protein_coding|CODING|NM_002663.4|13|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HeLa-S3:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.772,0.7435,0.7028,0.63,0.45,0.72,,,,,,,,,,,,,,,,
missense_variant,PLD2,MISSENSE,NM_002663.4:p.Glu632Gly/c.1895A>G,gAg/gGg,MODERATE,COSM3766119(3),0.0758786,0.0675,rs17854914,0.26(T),"0.022,0.064,0.326(B,B,B)",0.785(N),-1.0244(T),,chr17,4721376,4721376,A,G,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu632Gly/c.1895A>G|922|PLD2|protein_coding|CODING|NM_001243108.1|18|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu632Gly/c.1895A>G|933|PLD2|protein_coding|CODING|NM_002663.4|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0603,0.0836,0.163,0.11,0.04,0.14,,0.000095(D),0.050(P),1.54(T),0.0004(T),0.301,2.631171,4.77,4.77,0.454000,1.787000,3.862000,0.703000,1.000000,1.000000,12.2194
synonymous_variant,PLD2,SILENT,NM_002663.4:p.Leu790Leu/c.2370G>A,ctG/ctA,LOW,COSM3755636(2),0.120807,0.0427,rs1052751,,,,,,chr17,4722785,4722785,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu790Leu/c.2370G>A|922|PLD2|protein_coding|CODING|NM_001243108.1|23|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu790Leu/c.2370G>A|933|PLD2|protein_coding|CODING|NM_002663.4|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.09,0.1715,0.1829,0.15,0.12,0.17,,,,,,,,,,,,,,,,
missense_variant,PLD2,MISSENSE,NM_002663.4:p.Gly821Ser/c.2461G>A,Ggt/Agt,MODERATE,COSM3755638(2),0.183307,0.1071,rs3764897,0.41(T),0.0(B),-2.045(N),-0.9551(T),,chr17,4722876,4722876,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly821Ser/c.2461G>A|933|PLD2|protein_coding|CODING|NM_002663.4|23|1),splice_region_variant(LOW|||c.2461G>A|933|PLD2|protein_coding|CODING|NM_002663.4|23|1),intron_variant(MODIFIER|||c.2429+32G>A|922|PLD2|protein_coding|CODING|NM_001243108.1|23|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.1671,0.168,0.20,0.27,0.16,,0.000000(N),0.000(P),3.34(T),0.0000(T),0.362,1.668938,3.82,3.82,-0.521000,0.645000,3.580000,0.736000,1.000000,1.000000,7.5853
missense_variant,MINK1,MISSENSE,NM_153827.4:p.Val771Ala/c.2312T>C,gTc/gCc,MODERATE,COSM3755639(3),0.706669,0.9266,rs11556634,,"0.0,0.0,0.0,0.0(B,B,B,B)",-1.905(N),-0.9665(T),,chr17,4796274,4796274,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val751Ala/c.2252T>C|1312|MINK1|protein_coding|CODING|NM_001024937.3|20|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val734Ala/c.2201T>C|1295|MINK1|protein_coding|CODING|NM_015716.4|19|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val771Ala/c.2312T>C|1332|MINK1|protein_coding|CODING|NM_153827.4|20|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val734Ala/c.2201T>C|1303|MINK1|protein_coding|CODING|NM_170663.4|19|1),splice_region_variant(LOW|||c.2252T>C|1312|MINK1|protein_coding|CODING|NM_001024937.3|20|1),splice_region_variant(LOW|||c.2201T>C|1295|MINK1|protein_coding|CODING|NM_015716.4|19|1),splice_region_variant(LOW|||c.2312T>C|1332|MINK1|protein_coding|CODING|NM_153827.4|20|1),splice_region_variant(LOW|||c.2201T>C|1303|MINK1|protein_coding|CODING|NM_170663.4|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6748,0.5562,0.4264,0.53,0.79,0.40,,0.003100(N),0.478(P),"-0.63,-0.62,-0.58(T,T,T)",0.0000(T),0.027,0.123176,4.91,3.93,-0.119000,0.675000,0.356000,0.799000,0.993000,0.603000,9.6596
missense_variant,MINK1,MISSENSE,NM_153827.4:p.Pro775Leu/c.2324C>T,cCg/cTg,MODERATE,COSM3755642(3),0.70028,0.9246,rs11556635,0.27(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.23(N),-0.9707(T),,chr17,4796286,4796286,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro755Leu/c.2264C>T|1312|MINK1|protein_coding|CODING|NM_001024937.3|20|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro738Leu/c.2213C>T|1295|MINK1|protein_coding|CODING|NM_015716.4|19|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro775Leu/c.2324C>T|1332|MINK1|protein_coding|CODING|NM_153827.4|20|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro738Leu/c.2213C>T|1303|MINK1|protein_coding|CODING|NM_170663.4|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6769,0.5461,0.4066,0.49,0.74,0.37,,0.000918(N),0.865(P),"-0.66,-0.65,-0.68(T,T,T)",0.0000(T),0.086,1.681467,4.98,4.98,-0.254000,0.934000,1.561000,0.987000,1.000000,1.000000,8.9983
missense_variant,MINK1,MISSENSE,NM_153827.4:p.Val863Ile/c.2587G>A,Gtc/Atc,MODERATE,COSM3736166(1),0.208666,0.5069,rs2302319,0.04(D),"0.001,0.001,0.001,0.001(B,B,B,B)",2.135(M),-0.9722(T),,chr17,4797305,4797305,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val843Ile/c.2527G>A|1312|MINK1|protein_coding|CODING|NM_001024937.3|22|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val826Ile/c.2476G>A|1295|MINK1|protein_coding|CODING|NM_015716.4|21|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val863Ile/c.2587G>A|1332|MINK1|protein_coding|CODING|NM_153827.4|22|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val834Ile/c.2500G>A|1303|MINK1|protein_coding|CODING|NM_170663.4|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3763,0.0764,0.1024,0.06,0.02,0.08,,0.000414(D),0.167(P),"-0.91,-0.91,-0.91(T,T,T)",0.0000(T),0.057,2.423731,5.24,3.22,-0.137000,1.446000,2.046000,0.946000,0.989000,0.991000,10.3147
synonymous_variant,CHRNE,SILENT,NM_000080.3:p.Ala431Ala/c.1293C>T,gcC/gcT,LOW,COSM3755643(1),0.191294,0.0655,rs33978919,,,,,,chr17,4802329,4802329,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala431Ala/c.1293C>T|493|CHRNE|protein_coding|CODING|NM_000080.3|11|1),upstream_gene_variant(MODIFIER||619||190|C17orf107|protein_coding|CODING|NM_001145536.1||1),downstream_gene_variant(MODIFIER||973||1312|MINK1|protein_coding|CODING|NM_001024937.3||1),downstream_gene_variant(MODIFIER||973||1295|MINK1|protein_coding|CODING|NM_015716.4||1),downstream_gene_variant(MODIFIER||973||1332|MINK1|protein_coding|CODING|NM_153827.4||1),downstream_gene_variant(MODIFIER||973||1303|MINK1|protein_coding|CODING|NM_170663.4||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116735.1,,0.1616,0.2176,0.1461,0.19,0.28,0.14,,,,,,,,,,,,,,,,
stop_gained,C17orf107,NONSENSE,NM_001145536.1:p.Trp152*/c.456G>A,tgG/tgA,HIGH,COSM3755644(1),0.221645,0.0863,rs35400274,1(T),,,,,chr17,4803711,4803711,G,A,het,"stop_gained(HIGH|NONSENSE|tgG/tgA|p.Trp152*/c.456G>A|190|C17orf107|protein_coding|CODING|NM_001145536.1|3|1),intron_variant(MODIFIER|||c.917+377C>T|493|CHRNE|protein_coding|CODING|NM_000080.3|8|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1616,0.2378,0.1511,0.21,0.36,0.14,,0.670805(N),0.000(P),,,.,3.907762,4.62,4.62,0.561000,2.411000,1.993000,0.119000,0.994000,0.793000,12.8268
missense_variant,GP1BA,MISSENSE,NM_000173.5:p.Thr161Met/c.482C>T,aCg/aTg,MODERATE,COSM3755652(1),0.131589,0.0704,rs6065,0.16(T),0.159(B),0.84(L),-1.1055(T),,chr17,4836381,4836381,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr161Met/c.482C>T|652|GP1BA|protein_coding|CODING|NM_000173.5|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3","Platelet_counts,Platelet_counts",,,0.0624,0.1542,0.0875,0.12,0.21,0.08,,0.389490(N),1.000(P),0.37(T),0.0000(T),0.034,1.596638,4.81,-9.62,-0.657000,-2.443000,-2.797000,0.533000,0.000000,0.000000,1.5063
missense_variant,ENO3,MISSENSE,NM_001976.4:p.Asn71Ser/c.212A>G,aAt/aGt,MODERATE,,0.564097,0.3988,rs238238,0.24(T),0.001(B),,-1.0220(T),,chr17,4856376,4856376,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn71Ser/c.212A>G|434|ENO3|protein_coding|CODING|NM_001976.4|4|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn71Ser/c.212A>G|434|ENO3|protein_coding|CODING|NM_053013.3|4|1),intron_variant(MODIFIER|||c.181+191A>G|391|ENO3|protein_coding|CODING|NM_001193503.1|3|1)","IMR90:H3K27ac,HepG2:H3K36me3",,,,0.4806,0.7795,0.6809,0.67,0.60,0.70,,,0.000(P),"1.57,1.57,1.57,1.57,1.57(T,T,T,T,T)",0.0000(T),0.074,2.282795,5.4,5.4,0.533000,2.176000,3.651000,0.994000,1.000000,1.000000,13.6512
missense_variant,CAMTA2,MISSENSE,NM_001171167.1:p.Ser926Pro/c.2776T>C,Tcc/Ccc,MODERATE,COSM3755666(1),0.091254,0.0486,rs16942615,0.83(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-0.205(N),-1.0228(T),,chr17,4875628,4875628,A,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser905Pro/c.2713T>C|1197|CAMTA2|protein_coding|CODING|NM_001171166.1|15|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser926Pro/c.2776T>C|1241|CAMTA2|protein_coding|CODING|NM_001171167.1|16|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser902Pro/c.2704T>C|1201|CAMTA2|protein_coding|CODING|NM_001171168.1|15|1),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser903Pro/c.2707T>C|1202|CAMTA2|protein_coding|CODING|NM_015099.3|16|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0593,0.1326,0.0835,0.09,0.12,0.07,,0.230460(N),0.420(P),"0.8,0.8,0.8,0.8,0.8(T,T,T,T,T)",0.0008(T),0.057,0.039495,5.88,0.446,-0.462000,-0.104000,-0.137000,0.010000,0.934000,0.519000,7.9089
missense_variant,CAMTA2,MISSENSE,NM_001171167.1:p.Ala290Pro/c.868G>C,Gct/Cct,MODERATE,COSM3766128(1),0.71865,0.499,rs238234,0.38(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.55(N),-1.0430(T),,chr17,4883818,4883818,C,G,het,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala269Pro/c.805G>C|1197|CAMTA2|protein_coding|CODING|NM_001171166.1|8|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala290Pro/c.868G>C|1241|CAMTA2|protein_coding|CODING|NM_001171167.1|9|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala266Pro/c.796G>C|1201|CAMTA2|protein_coding|CODING|NM_001171168.1|8|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala267Pro/c.799G>C|1202|CAMTA2|protein_coding|CODING|NM_015099.3|9|1)","NHEK:CTCF,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4734,0.8501,0.7843,0.85,0.94,0.81,,0.141405(N),1.000(P),"1.01,1.01,1.01,1.01,1.01(T,T,T,T,T)",0.0000(T),0.054,-2.976681,4.38,-2.14,-4.433000,-0.994000,0.294000,0.071000,0.002000,0.000000,1.3796
missense_variant,SLC52A1,MISSENSE,NM_001104577.1:p.Ala271Val/c.812C>T,gCc/gTc,MODERATE,,0.529153,0.2331,rs346821,0.35(T),"0.059,0.008(B,B)",0.55(N),-0.9269(T),,chr17,4936972,4936972,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala271Val/c.812C>T|448|SLC52A1|protein_coding|CODING|NM_001104577.1|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala271Val/c.812C>T|448|SLC52A1|protein_coding|CODING|NM_017986.3|3|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3722,0.6369,0.6402,0.69,0.74,0.66,,0.815895(N),0.166(P),"-0.9,-0.73,-0.9(T,T,T)",0.0000(T),0.045,1.389727,0.784,0.784,0.563000,0.699000,.,0.095000,0.026000,.,7.3913
synonymous_variant,SLC52A1,SILENT,NM_001104577.1:p.Arg145Arg/c.433C>A,Cgg/Agg,LOW,COSM1750163(2),0.0662939,0.0744,rs56126318,,,,,,chr17,4937351,4937351,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg145Arg/c.433C>A|448|SLC52A1|protein_coding|CODING|NM_001104577.1|3|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg145Arg/c.433C>A|448|SLC52A1|protein_coding|CODING|NM_017986.3|3|1)","HUVEC:H3K27me3,CD4:H4K91ac,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0552,0.1268,0.0875,0.06,0.03,0.08,,,,,,,,,,,,,,,,
missense_variant,SLC52A1,MISSENSE,NM_001104577.1:p.Gln70Arg/c.209A>G,cAg/cGg,MODERATE,COSM4130409(2),0.923522,0.8204,rs346822,1(T),"0.0,0.0(B,B)",-1.935(N),-0.9730(T),,chr17,4937575,4937575,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln70Arg/c.209A>G|448|SLC52A1|protein_coding|CODING|NM_001104577.1|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln70Arg/c.209A>G|448|SLC52A1|protein_coding|CODING|NM_017986.3|3|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.907,0.9597,0.9602,0.96,0.96,0.95,,0.000076(N),1.000(P),"-0.43,-0.43,-0.43(T,T,T)",0.0000(T),0.073,-2.496691,2.28,1.29,-0.898000,0.087000,0.473000,0.022000,0.067000,0.987000,6.4068
missense_variant,USP6,MISSENSE,NM_004505.2:p.Lys66Gln/c.196A>C,Aaa/Caa,MODERATE,COSM1610490(3),,,rs80328123,,"0.0,0.0(B,B)",-1.39(N),-0.9407(T),,chr17,5036205,5036205,A,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys66Gln/c.196A>C|1406|USP6|protein_coding|CODING|NM_004505.2|5|1),splice_region_variant(LOW|||c.196A>C|1406|USP6|protein_coding|CODING|NM_004505.2|5|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000279(N),1.000(D),"1.77,1.77(T,T)",0.0131(T),0.047,-2.334726,0.0465,-0.093,-1.674000,-1.642000,0.539000,0.009000,0.009000,0.995000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.Ile67Met/c.201T>G,atT/atG,MODERATE,COSM1315964(4),,,,0(D),"0.137,0.137(B,B)",1.87(L),-1.0073(T),,chr17,5036210,5036210,T,G,het,missense_variant(MODERATE|MISSENSE|atT/atG|p.Ile67Met/c.201T>G|1406|USP6|protein_coding|CODING|NM_004505.2|5|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000014(D),0.779(N),"1.58,1.58(T,T)",0.0476(T),0.056,0.501066,0.0465,0.0465,0.113000,0.115000,-0.673000,0.014000,0.014000,0.032000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.Arg68Trp/c.202C>T,Cgg/Tgg,MODERATE,COSM1315966(3),,,rs201674756,0(D),"0.428,0.428(B,B)",1.735(L),-1.0151(T),,chr17,5036211,5036211,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg68Trp/c.202C>T|1406|USP6|protein_coding|CODING|NM_004505.2|5|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000008(D),0.986(N),"1.37,1.37(T,T)",0.0745(T),0.198,1.839234,0.0465,0.0465,0.134000,0.132000,0.615000,0.014000,0.014000,0.024000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.Arg69Trp/c.205C>T,Cgg/Tgg,MODERATE,COSM4130411(5),,,rs114647990,0(D),"0.042,0.016(B,B)",1.935(M),-0.9965(T),,chr17,5036214,5036214,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg69Trp/c.205C>T|1406|USP6|protein_coding|CODING|NM_004505.2|5|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000003(D),0.999(N),"1.34,1.34(T,T)",0.0522(T),0.231,1.702955,0.0465,0.0465,0.134000,0.132000,-0.081000,0.009000,0.009000,0.014000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.Thr72Arg/c.215C>G,aCa/aGa,MODERATE,COSM256119(13),,,rs72830922,0(D),"0.002,0.001(B,B)",-0.83(N),-0.9910(T),,chr17,5036224,5036224,C,G,het,missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr72Arg/c.215C>G|1406|USP6|protein_coding|CODING|NM_004505.2|5|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.001520(N),1.000(D),"1.55,1.55(T,T)",0.0227(T),0.185,-0.389573,0.0465,-0.093,-1.549000,-1.539000,0.250000,0.001000,0.001000,0.870000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.His89Asn/c.265C>A,Cac/Aac,MODERATE,COSM132780(6),,,rs78465432,0.43(T),"0.0,0.0(B,B)",-1.85(N),-0.9430(T),,chr17,5036274,5036274,C,A,het,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His89Asn/c.265C>A|1406|USP6|protein_coding|CODING|NM_004505.2|5|1),"GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000149(N),1.000(D),"1.74,1.74(T,T)",0.0117(T),0.036,-2.834052,0.0465,-0.093,-1.549000,-1.539000,0.046000,0.005000,0.005000,0.993000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.Ser91Thr/c.272G>C,aGc/aCc,MODERATE,COSM1610491(4),,,rs76236903,0.52(T),"0.003,0.001(B,B)",0.345(N),-0.6644(T),,chr17,5036281,5036281,G,C,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser91Thr/c.272G>C|1406|USP6|protein_coding|CODING|NM_004505.2|5|1),"GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000037(D),1.000(D),"3.66,3.66(T,T)",0.0000(T),0.128,0.372233,0.0465,-0.093,-1.368000,-1.381000,0.365000,0.002000,0.002000,0.945000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.Trp475Arg/c.1423T>C,Tgg/Cgg,MODERATE,COSM3766135(1),0.77496,0.9087,rs8073787,0.46(T),"0.001,0.001(B,B)",0(N),-1.0649(T),,chr17,5042894,5042894,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp475Arg/c.1423T>C|1406|USP6|protein_coding|CODING|NM_004505.2|14|1),"HeLa-S3:DNase1,HepG2:DNase1,HepG2:H3K27me3,NHEK:DNase1,K562:DNase1",,,,0.8558,0.5735,0.5626,0.64,0.81,0.55,,0.000000(D),1.000(P),"2.62,3.11,2.7(T,T,T)",0.0000(T),0.233,0.149914,0.266,-0.532,-1.203000,-1.209000,-0.049000,0.001000,0.001000,0.074000,.
missense_variant,USP6,MISSENSE,NM_004505.2:p.Arg912Gln/c.2735G>A,cGg/cAg,MODERATE,,0.337061,0.1706,rs9899177,0.79(T),"0.755,0.876(P,P)",1.75(L),-1.1088(T),,chr17,5058808,5058808,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg912Gln/c.2735G>A|1406|USP6|protein_coding|CODING|NM_004505.2|23|1),HUVEC:H3K27me3,,,,0.2382,0.6052,0.6034,0.52,0.29,0.64,,0.000002(D),0.000(P),"2.99,2.59(T,T)",0.0000(T),0.481,3.402406,2.91,2.91,0.398000,1.614000,6.359000,0.943000,1.000000,1.000000,11.6235
synonymous_variant,ZNF594,SILENT,NM_032530.1:p.Glu553Glu/c.1659G>A,gaG/gaA,LOW,COSM4151675(1),0.322085,0.1746,rs4115657,,,,,,chr17,5085893,5085893,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu553Glu/c.1659G>A|807|ZNF594|protein_coding|CODING|NM_032530.1|2|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H4K20me3",,,,0.2382,0.5994,0.6034,0.52,0.26,0.64,,,,,,,,,,,,,,,,
missense_variant,ZNF594,MISSENSE,NM_032530.1:p.Ile171Thr/c.512T>C,aTt/aCt,MODERATE,COSM1384544(1),0.226438,0.0972,rs9908414,0.75(T),0.001(B),1.32(L),-0.9160(T),,chr17,5087040,5087040,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile171Thr/c.512T>C|807|ZNF594|protein_coding|CODING|NM_032530.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1421,0.4265,0.4354,,,,,,1.000(P),1.19(T),0.0000(T),0.094,-4.054948,2.29,-2.72,-1.319000,-0.853000,-1.675000,0.000000,0.203000,0.000000,6.3503
synonymous_variant,SCIMP,SILENT,NM_207103.3:p.Gly33Gly/c.99T>C,ggT/ggC,LOW,COSM4000211(1),0.437899,0.3542,rs2641256,,,,,,chr17,5126674,5126674,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly33Gly/c.99T>C|145|SCIMP|protein_coding|CODING|NM_207103.3|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly33Gly/c.99T>C|138|SCIMP|protein_coding|CODING|NM_001271842.1|2|1),non_coding_exon_variant(MODIFIER|||n.596A>G||LOC100130950||NON_CODING|NR_034082.1|5|1)","GM12878:H3K27ac,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3057,0.6354,0.66,0.59,0.37,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SCIMP,SILENT,NM_207103.3:p.Ile28Ile/c.84C>T,atC/atT,LOW,COSM4000212(1),0.335463,0.1984,rs2585271,,,,,,chr17,5126689,5126689,G,A,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile28Ile/c.84C>T|145|SCIMP|protein_coding|CODING|NM_207103.3|2|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile28Ile/c.84C>T|138|SCIMP|protein_coding|CODING|NM_001271842.1|2|1),non_coding_exon_variant(MODIFIER|||n.611G>A||LOC100130950||NON_CODING|NR_034082.1|5|1)","GM12878:H3K27ac,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.226,0.5937,0.6014,0.51,0.25,0.64,,,,,,,,,,,,,,,,
missense_variant,NLRP1,MISSENSE,NM_033004.3:p.Met1184Val/c.3550A>G,Atg/Gtg,MODERATE,COSM4000217(1),0.417931,0.2768,rs11651270,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-2.485(N),-0.9399(T),,chr17,5425077,5425077,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1188Val/c.3562A>G|1375|NLRP1|protein_coding|CODING|NM_001033053.2|13|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1184Val/c.3550A>G|1429|NLRP1|protein_coding|CODING|NM_014922.4|13|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1184Val/c.3550A>G|1473|NLRP1|protein_coding|CODING|NM_033004.3|13|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1154Val/c.3460A>G|1443|NLRP1|protein_coding|CODING|NM_033006.3|12|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1154Val/c.3460A>G|1399|NLRP1|protein_coding|CODING|NM_033007.3|12|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4213,0.4294,0.4612,0.48,0.51,0.47,,0.058166(N),1.000(P),"2.82,2.82,2.82,2.82,2.82(T,T,T,T,T)",0.0000(T),0.061,-1.251336,4.3,2.26,-0.124000,0.565000,0.439000,0.983000,0.153000,0.004000,6.0509
missense_variant,NLRP1,MISSENSE,NM_033004.3:p.Val1059Met/c.3175G>A,Gtg/Atg,MODERATE,COSM3755689(2),0.184305,0.0228,rs2301582,0.09(T),"0.055,0.037,0.037,0.017,0.037,0.01(B,B,B,B,B,B)",0(N),-1.0362(T),,chr17,5436263,5436263,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1063Met/c.3187G>A|1375|NLRP1|protein_coding|CODING|NM_001033053.2|11|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1059Met/c.3175G>A|1429|NLRP1|protein_coding|CODING|NM_014922.4|11|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1059Met/c.3175G>A|1473|NLRP1|protein_coding|CODING|NM_033004.3|11|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1029Met/c.3085G>A|1443|NLRP1|protein_coding|CODING|NM_033006.3|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1029Met/c.3085G>A|1399|NLRP1|protein_coding|CODING|NM_033007.3|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1759,0.3573,0.3738,0.31,0.13,0.40,,0.758189(N),1.000(P),"-0.6,-0.6,-0.58,-0.48,-0.58(T,T,T,T,T)",0.0000(T),0.097,0.971710,3.94,0.836,-0.236000,0.255000,-0.977000,0.006000,0.000000,0.000000,6.2112
missense_variant,NLRP1,MISSENSE,NM_033004.3:p.Leu155His/c.464T>A,cTc/cAc,MODERATE,COSM1130227(2),0.192093,0.0308,rs12150220,0.15(T),"0.823,0.823,0.669,0.823,0.669(P,P,P,P,P)",0.345(N),-0.9716(T),,chr17,5485367,5485367,A,T,het,"missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu155His/c.464T>A|1375|NLRP1|protein_coding|CODING|NM_001033053.2|3|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu155His/c.464T>A|1429|NLRP1|protein_coding|CODING|NM_014922.4|3|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu155His/c.464T>A|1473|NLRP1|protein_coding|CODING|NM_033004.3|3|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu155His/c.464T>A|1443|NLRP1|protein_coding|CODING|NM_033006.3|3|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu155His/c.464T>A|1399|NLRP1|protein_coding|CODING|NM_033007.3|3|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000004380.2,,0.1881,0.3674,0.4443,0.33,0.10,0.45,,,1.000(P),"0.99,0.99,0.99,0.99,0.99(T,T,T,T,T)",0.0000(T),0.252,1.745635,2.85,-1.07,0.459000,-0.277000,-1.072000,0.027000,0.000000,0.000000,0.4436
synonymous_variant,NLRP1,SILENT,NM_033004.3:p.Ser38Ser/c.114G>C,tcG/tcC,LOW,COSM3755695(1),0.283147,0.6587,rs884367,,,,,,chr17,5487164,5487164,C,G,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser38Ser/c.114G>C|1375|NLRP1|protein_coding|CODING|NM_001033053.2|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser38Ser/c.114G>C|1429|NLRP1|protein_coding|CODING|NM_014922.4|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser38Ser/c.114G>C|1473|NLRP1|protein_coding|CODING|NM_033004.3|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser38Ser/c.114G>C|1443|NLRP1|protein_coding|CODING|NM_033006.3|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser38Ser/c.114G>C|1399|NLRP1|protein_coding|CODING|NM_033007.3|1|1)","CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,CD4:H3K18ac,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H2AK5ac,CD4:H4K91ac,CD4:H2BK20ac,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,GM06990:H3K4me3,HUVEC:DNase1,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K36ac,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,CD4:H2BK12ac",,,,0.4213,0.1902,0.1779,0.13,0.05,0.17,,,,,,,,,,,,,,,,
synonymous_variant,WSCD1,SILENT,NM_015253.1:p.His154His/c.462C>T,caC/caT,LOW,,0.526757,0.8204,rs2302836,,,,,,chr17,5991344,5991344,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His154His/c.462C>T|575|WSCD1|protein_coding|CODING|NM_015253.1|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.7117,0.5259,0.5338,0.43,0.22,0.53,,,,,,,,,,,,,,,,
synonymous_variant,WSCD1,SILENT,NM_015253.1:p.Thr365Thr/c.1095A>G,acA/acG,LOW,,0.901757,0.9504,rs2302837,,,,,,chr17,6014176,6014176,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr365Thr/c.1095A>G|575|WSCD1|protein_coding|CODING|NM_015253.1|7|1),"GM12878:BATF,HUVEC:H3K36me3,HUVEC:Cjun,HUVEC:DNase1,GM12878:IRF4,HepG2:FOSL2,HUVEC:H3K27ac",,,,0.9499,0.9352,0.9115,0.89,0.82,0.93,,,,,,,,,,,,,,,,
synonymous_variant,AIPL1,SILENT,NM_014336.4:p.Pro217Pro/c.651A>G,ccA/ccG,LOW,COSM1162537(2),0.713658,0.6716,rs2292546,,,,,,chr17,6330068,6330068,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro209Pro/c.627A>G|262|AIPL1|protein_coding|CODING|NM_001285403.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro154Pro/c.462A>G|321|AIPL1|protein_coding|CODING|NM_001033054.2|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro157Pro/c.471A>G|324|AIPL1|protein_coding|CODING|NM_001033055.2|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro205Pro/c.615A>G|372|AIPL1|protein_coding|CODING|NM_001285399.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro195Pro/c.585A>G|362|AIPL1|protein_coding|CODING|NM_001285400.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro178Pro/c.534A>G|345|AIPL1|protein_coding|CODING|NM_001285402.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro217Pro/c.651A>G|384|AIPL1|protein_coding|CODING|NM_014336.4|5|1),intron_variant(MODIFIER|||c.643-64A>G|360|AIPL1|protein_coding|CODING|NM_001285401.2|4|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000086230.1,,0.6636,0.745,0.7614,0.74,0.72,0.75,,,,,,,,,,,,,,,,
synonymous_variant,AIPL1,SILENT,NM_014336.4:p.Leu100Leu/c.300A>G,ctA/ctG,LOW,COSM3755752(2),0.575879,0.5367,rs8075035,,,,,,chr17,6331803,6331803,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu40Leu/c.120A>G|324|AIPL1|protein_coding|CODING|NM_001033055.2|2|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu88Leu/c.264A>G|372|AIPL1|protein_coding|CODING|NM_001285399.2|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu78Leu/c.234A>G|362|AIPL1|protein_coding|CODING|NM_001285400.2|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu100Leu/c.300A>G|360|AIPL1|protein_coding|CODING|NM_001285401.2|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu61Leu/c.183A>G|345|AIPL1|protein_coding|CODING|NM_001285402.1|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu100Leu/c.300A>G|262|AIPL1|protein_coding|CODING|NM_001285403.2|3|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu100Leu/c.300A>G|384|AIPL1|protein_coding|CODING|NM_014336.4|3|1),intron_variant(MODIFIER|||c.277-1426A>G|321|AIPL1|protein_coding|CODING|NM_001033054.2|2|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6033,0.6758,0.6759,0.61,0.50,0.66,,,,,,,,,,,,,,,,
synonymous_variant,PITPNM3,SILENT,NM_031220.3:p.Asp810Asp/c.2430T>C,gaT/gaC,LOW,COSM3766147(2),0.913938,0.9058,rs11654099,,,,,,chr17,6364753,6364753,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp774Asp/c.2322T>C|938|PITPNM3|protein_coding|CODING|NM_001165966.1|17|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp810Asp/c.2430T>C|974|PITPNM3|protein_coding|CODING|NM_031220.3|18|1)","H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.8967,0.8573,0.8728,0.89,0.97,0.85,,,,,,,,,,,,,,,,
synonymous_variant,PITPNM3,SILENT,NM_031220.3:p.Thr235Thr/c.705C>T,acC/acT,LOW,,0.382388,0.2421,rs938288,,,,,,chr17,6381939,6381939,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr199Thr/c.597C>T|938|PITPNM3|protein_coding|CODING|NM_001165966.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr235Thr/c.705C>T|974|PITPNM3|protein_coding|CODING|NM_031220.3|7|1)","GM06990:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.3967,0.4697,0.6322,0.52,0.29,0.63,,,,,,,,,,,,,,,,
missense_variant,PITPNM3,MISSENSE,NM_031220.3:p.Ala80Thr/c.238G>A,Gcg/Acg,MODERATE,COSM3755756(2),0.273562,0.252,rs3809835,0.75(T),"0.003,0.0(B,B)",0.55(N),-0.9434(T),,chr17,6406883,6406883,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala44Thr/c.130G>A|938|PITPNM3|protein_coding|CODING|NM_001165966.1|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala80Thr/c.238G>A|974|PITPNM3|protein_coding|CODING|NM_031220.3|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.2321,0.1988,0.3618,0.32,0.28,0.34,,0.973856(N),1.000(P),"2.1,1.0(T,T)",0.0000(T),0.025,1.080943,3.83,-1.55,-0.136000,-0.243000,-1.150000,0.127000,0.000000,0.000000,7.2358
missense_variant,KIAA0753,MISSENSE,NM_014804.2:p.Gln896Arg/c.2687A>G,cAg/cGg,MODERATE,COSM4000264(1),0.688898,0.7093,rs1443417,0.42(T),0.0(B),-1.52(N),-1.0175(T),,chr17,6493198,6493198,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln896Arg/c.2687A>G|967|KIAA0753|protein_coding|CODING|NM_014804.2|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.636,0.6787,0.5477,0.64,0.78,0.57,,0.038289(N),1.000(P),"1.02,1.02(T,T)",0.0000(T),0.052,-0.857067,5.64,2.43,-0.119000,0.088000,1.060000,0.127000,0.892000,0.796000,5.4199
synonymous_variant,KIAA0753,SILENT,NM_014804.2:p.Ala572Ala/c.1716T>C,gcT/gcC,LOW,COSM3755763(2),0.663339,0.7103,rs4796519,,,,,,chr17,6511781,6511781,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala572Ala/c.1716T>C|967|KIAA0753|protein_coding|CODING|NM_014804.2|10|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Jund,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.637,0.6729,0.5467,0.62,0.71,0.57,,,,,,,,,,,,,,,,
missense_variant,KIAA0753,MISSENSE,NM_014804.2:p.Pro566Leu/c.1697C>T,cCa/cTa,MODERATE,COSM3755764(3),0.271765,0.3562,rs2304977,0.31(T),0.747(P),2.43(M),-1.1362(T),,chr17,6513329,6513329,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro566Leu/c.1697C>T|967|KIAA0753|protein_coding|CODING|NM_014804.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.3876,0.3459,0.28,0.09,0.38,,0.000007(D),0.000(P),"-2.02,-2.02(D,D)",0.0000(T),0.315,3.688818,5.14,4.15,0.650000,1.275000,2.037000,0.886000,0.998000,0.999000,11.2919
missense_variant,KIAA0753,MISSENSE,NM_014804.2:p.Leu466Pro/c.1397T>C,cTg/cCg,MODERATE,COSM3755765(2),0.689097,0.7103,rs2289642,0.43(T),0.0(B),-1.445(N),-1.0174(T),,chr17,6515387,6515387,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu466Pro/c.1397T>C|967|KIAA0753|protein_coding|CODING|NM_014804.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.636,0.6801,0.5467,0.64,0.78,0.57,,0.284834(N),1.000(P),"2.87,2.87(T,T)",0.0000(T),0.128,-0.790487,4.43,-3.82,-0.119000,-1.047000,-0.776000,0.038000,0.000000,0.000000,5.0425
missense_variant,KIAA0753,MISSENSE,NM_014804.2:p.Asp444Asn/c.1330G>A,Gat/Aat,MODERATE,COSM1130191(2),0.536342,0.7103,rs2289643,0.41(T),0.005(B),1.61(L),-0.9478(T),,chr17,6515454,6515454,C,T,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp444Asn/c.1330G>A|967|KIAA0753|protein_coding|CODING|NM_014804.2|8|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6012,0.621,0.5149,0.48,0.37,0.54,,0.199827(N),1.000(P),"3.04,3.04(T,T)",0.0000(T),0.025,0.774006,4.33,3.36,0.591000,1.434000,1.423000,0.004000,0.040000,0.245000,8.2745
missense_variant,KIAA0753,MISSENSE,NM_014804.2:p.Glu375Asp/c.1125A>T,gaA/gaT,MODERATE,COSM4000267(1),0.307907,0.3562,rs9889363,0.03(D),0.994(D),2.34(M),-1.1460(T),,chr17,6524298,6524298,T,A,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu375Asp/c.1125A>T|967|KIAA0753|protein_coding|CODING|NM_014804.2|7|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3528,0.4006,0.3489,0.32,0.20,0.38,,0.017391(N),0.000(P),"-2.19,-2.19(D,D)",0.0000(T),0.163,4.484199,4.92,3.84,0.377000,0.991000,0.810000,0.995000,1.000000,1.000000,7.6264
synonymous_variant,KIAA0753,SILENT,NM_014804.2:p.Ser169Ser/c.507T>C,tcT/tcC,LOW,COSM3755766(2),0.697085,0.7103,rs2072149,,,,,,chr17,6531648,6531648,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser169Ser/c.507T>C|967|KIAA0753|protein_coding|CODING|NM_014804.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.636,0.6801,0.5457,0.65,0.81,0.58,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0753,SILENT,NM_014804.2:p.Ser23Ser/c.69C>T,agC/agT,LOW,COSM437193(2),0.336262,0.2897,rs2301873,,,,,,chr17,6538355,6538355,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser23Ser/c.69C>T|967|KIAA0753|protein_coding|CODING|NM_014804.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.365,0.3271,0.4543,0.38,0.29,0.43,,,,,,,,,,,,,,,,
missense_variant,SLC13A5,MISSENSE,NM_177550.4:p.Leu30Pro/c.89T>C,cTg/cCg,MODERATE,,,,,0.04(D),"0.876,0.667,0.876,0.876(P,P,P,P)",2.74(M),-1.1913(T),,chr17,6616564,6616564,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu30Pro/c.89T>C|522|SLC13A5|protein_coding|CODING|NM_001143838.2|1|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu30Pro/c.89T>C|551|SLC13A5|protein_coding|CODING|NM_001284509.1|1|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu30Pro/c.89T>C|525|SLC13A5|protein_coding|CODING|NM_001284510.1|1|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu30Pro/c.89T>C|568|SLC13A5|protein_coding|CODING|NM_177550.4|1|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HepG2:H3K27me3,HepG2:Yy1",,,,,,,,,,,0.091908(N),1.000(D),"3.94,3.94,4.16(T,T,T)",0.0343(T),0.618,3.944729,4.72,3.63,0.524000,1.908000,2.907000,0.996000,0.999000,1.000000,6.4968
synonymous_variant,XAF1,SILENT,NM_017523.3:p.Arg132Arg/c.396C>G,cgC/cgG,LOW,COSM4130531(1),0.52496,0.5813,rs2271231,,,,,,chr17,6663895,6663895,C,G,het,"synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg132Arg/c.396C>G|301|XAF1|protein_coding|CODING|NM_017523.3|4|1),synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg113Arg/c.339C>G|282|XAF1|protein_coding|CODING|NM_199139.2|3|1),intron_variant(MODIFIER|||n.411-1579C>G||XAF1||CODING|NR_046398.1|2|1),non_coding_exon_variant(MODIFIER|||n.638C>G||XAF1||CODING|NR_046396.1|4|1),non_coding_exon_variant(MODIFIER|||n.581C>G||XAF1||CODING|NR_046397.1|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4888,0.3934,0.3141,0.41,0.61,0.31,,,,,,,,,,,,,,,,
synonymous_variant,ALOX12,SILENT,NM_000697.2:p.Pro41Pro/c.123C>G,ccC/ccG,LOW,COSM3749414(19),0.949281,0.996,rs312467,,,,,,chr17,6899559,6899559,C,G,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro41Pro/c.123C>G|663|ALOX12|protein_coding|CODING|NM_000697.2|1|1),intron_variant(MODIFIER|||n.234-10700G>C||LOC100506713||NON_CODING|NR_040089.1|2|1)","NHEK:H3K4me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.9949,0.9395,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,ALOX12,SILENT,NM_000697.2:p.Ser255Ser/c.765G>A,tcG/tcA,LOW,COSM3766154(2),0.601837,0.5208,rs1042356,,,,,,chr17,6902743,6902743,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser255Ser/c.765G>A|663|ALOX12|protein_coding|CODING|NM_000697.2|6|1),intron_variant(MODIFIER|||n.233+10372C>T||LOC100506713||NON_CODING|NR_040089.1|2|1)","H1ESC:H3K36me3,K562:H3K27ac,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.5358,0.67,0.5984,0.61,0.66,0.58,,,,,,,,,,,,,,,,
missense_variant,ALOX12,MISSENSE,NM_000697.2:p.Gln261Arg/c.782A>G,cAg/cGg,MODERATE,COSM3766155(2),0.604034,0.5218,rs1126667,0.33(T),0.003(B),1.64(L),-0.9981(T),,chr17,6902760,6902760,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln261Arg/c.782A>G|663|ALOX12|protein_coding|CODING|NM_000697.2|6|1),intron_variant(MODIFIER|||n.233+10355T>C||LOC100506713||NON_CODING|NR_040089.1|2|1)","H1ESC:H3K36me3,K562:H3K27ac,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:H3K4me2",,,,0.5368,0.67,0.5984,0.61,0.67,0.58,,0.230826(N),1.000(P),-1.12(T),0.0000(T),0.014,0.509948,5.13,-6.14,-0.131000,-1.676000,-1.555000,0.019000,0.000000,0.000000,11.8644
missense_variant,ALOX12,MISSENSE,NM_000697.2:p.Asn322Ser/c.965A>G,aAc/aGc,MODERATE,,0.341254,0.4712,rs386592567,0.8(T),0.004(B),-0.06(N),-1.0188(T),,chr17,6904934,6904934,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn322Ser/c.965A>G|663|ALOX12|protein_coding|CODING|NM_000697.2|8|1),intron_variant(MODIFIER|||n.233+8181T>C||LOC100506713||NON_CODING|NR_040089.1|2|1)","NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HSMM:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,K562:Rad21,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.4519,0.268,0.4016,0.35,0.20,0.42,,0.099691(N),0.999(P),-1.0(T),0.0000(T),0.017,-0.762597,4.78,-4.4,-0.380000,-0.672000,-0.487000,0.091000,0.829000,0.000000,8.2298
synonymous_variant,ALOX12,SILENT,NM_000697.2:p.Thr364Thr/c.1092T>G,acT/acG,LOW,COSM3766156(2),0.572284,0.5238,rs1042357,,,,,,chr17,6905061,6905061,T,G,het,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr364Thr/c.1092T>G|663|ALOX12|protein_coding|CODING|NM_000697.2|8|1),intron_variant(MODIFIER|||n.233+8054A>C||LOC100506713||NON_CODING|NR_040089.1|2|1)","NHEK:CTCF,H1ESC:H3K36me3,CD4:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,HMEC:CTCF,CD4:H3K36me3,NH-A:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.5378,0.67,0.5974,0.57,0.57,0.58,,,,,,,,,,,,,,,,
synonymous_variant,ALOX12,SILENT,NM_000697.2:p.Leu634Leu/c.1902G>A,ctG/ctA,LOW,COSM4000285(1),0.119209,0.129,rs312462,,,,,,chr17,6913652,6913652,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu634Leu/c.1902G>A|663|ALOX12|protein_coding|CODING|NM_000697.2|14|1),intron_variant(MODIFIER|||n.140-444C>T||LOC100506713||NON_CODING|NR_040089.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.0879,0.0865,0.09,0.07,0.10,,,,,,,,,,,,,,,,
synonymous_variant,BCL6B,SILENT,NM_181844.3:p.His346His/c.1038T>C,caT/caC,LOW,,0.959864,0.996,rs379478,,,,,,chr17,6929924,6929924,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His346His/c.1038T>C|479|BCL6B|protein_coding|CODING|NM_181844.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K27me3,HUVEC:H3K4me1",,,,0.9939,0.987,0.998,0.96,0.89,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC16A13,SILENT,NM_201566.2:p.Val328Val/c.984G>T,gtG/gtT,LOW,COSM1385695(2),0.196885,0.0615,rs33979567,,,,,,chr17,6942111,6942111,G,T,het,synonymous_variant(LOW|SILENT|gtG/gtT|p.Val328Val/c.984G>T|426|SLC16A13|protein_coding|CODING|NM_201566.2|3|1),"H1ESC:H3K36me3,HepG2:H3K4me2,H1ESC:H3K27me3,HepG2:H3K4me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1984,0.1643,0.2068,0.24,0.29,0.21,,,,,,,,,,,,,,,,
synonymous_variant,CLEC10A,SILENT,NM_182906.2:p.Pro182Pro/c.546T>C,ccT/ccC,LOW,,0.424321,0.3294,rs364569,,,,,,chr17,6979179,6979179,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro158Pro/c.474T>C|292|CLEC10A|protein_coding|CODING|NM_006344.2|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro182Pro/c.546T>C|316|CLEC10A|protein_coding|CODING|NM_182906.2|7|1)",IMR90:H3K27me3,,,,0.3067,0.3127,0.3569,0.46,0.66,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CLEC10A,SILENT,NM_182906.2:p.Leu49Leu/c.147C>G,ctC/ctG,LOW,,0.41234,0.2669,rs732828,,,,,,chr17,6981353,6981353,G,C,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu49Leu/c.147C>G|292|CLEC10A|protein_coding|CODING|NM_006344.2|3|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu49Leu/c.147C>G|316|CLEC10A|protein_coding|CODING|NM_182906.2|3|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2628,0.2882,0.2903,0.43,0.70,0.28,,,,,,,,,,,,,,,,
missense_variant,CLEC10A,MISSENSE,NM_182906.2:p.Cys35Arg/c.103T>C,Tgc/Cgc,MODERATE,COSM4130543(2),0.519968,0.4702,rs90951,0.19(T),"0.002,0.001,0.036(B,B,B)",0.925(L),-1.0722(T),,chr17,6981397,6981397,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys35Arg/c.103T>C|292|CLEC10A|protein_coding|CODING|NM_006344.2|3|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys35Arg/c.103T>C|316|CLEC10A|protein_coding|CODING|NM_182906.2|3|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3078,0.3473,0.3608,0.51,0.82,0.35,,0.282488(N),1.000(P),"2.05,2.05(T,T)",0.0000(T),0.018,0.740365,4.43,-0.382,-1.140000,-0.472000,0.674000,0.013000,0.000000,0.081000,8.7412
missense_variant,ASGR2,MISSENSE,NM_001181.4:p.Gly85Arg/c.253G>A,Ggg/Agg,MODERATE,COSM148172(1),0.254992,0.2887,rs2304978,0.55(T),"0.0,0.0(B,B)",0.345(N),-1.0375(T),,chr17,7012079,7012079,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly85Arg/c.253G>A|311|ASGR2|protein_coding|CODING|NM_001181.4|3|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly85Arg/c.253G>A|311|ASGR2|protein_coding|CODING|NM_080912.3|3|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly66Arg/c.196G>A|292|ASGR2|protein_coding|CODING|NM_080914.2|2|1),intron_variant(MODIFIER|||c.241+12G>A|306|ASGR2|protein_coding|CODING|NM_001201352.1|3|1),intron_variant(MODIFIER|||c.184+12G>A|287|ASGR2|protein_coding|CODING|NM_080913.3|3|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3712,0.3689,0.2724,0.22,0.11,0.28,,,1.000(P),"5.71,5.71,5.74(T,T,T)",0.0000(T),0.139,-0.784581,1.92,0.39,-0.326000,-0.404000,-0.348000,0.543000,0.001000,0.000000,1.9813
synonymous_variant,DLG4,SILENT,NM_001365.3:p.Ile432Ile/c.1296C>T,atC/atT,LOW,COSM3766166(2),0.246006,0.3155,rs17203281,,,,,,chr17,7099811,7099811,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile386Ile/c.1158C>T|721|DLG4|protein_coding|CODING|NM_001128827.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile432Ile/c.1296C>T|767|DLG4|protein_coding|CODING|NM_001365.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.18,0.2349,0.331,0.27,0.19,0.31,,,,,,,,,,,,,,,,
synonymous_variant,DVL2,SILENT,NM_004422.2:p.Gln554Gln/c.1662A>G,caA/caG,LOW,,0.519569,0.4732,rs35594616,,,,,,chr17,7129840,7129840,T,C,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln554Gln/c.1662A>G|736|DVL2|protein_coding|CODING|NM_004422.2|14|1),downstream_gene_variant(MODIFIER||1254||655|ACADVL|protein_coding|CODING|NM_000018.3||1),downstream_gene_variant(MODIFIER||1254||633|ACADVL|protein_coding|CODING|NM_001033859.2||1),downstream_gene_variant(MODIFIER||1254||678|ACADVL|protein_coding|CODING|NM_001270447.1||1),downstream_gene_variant(MODIFIER||1254||579|ACADVL|protein_coding|CODING|NM_001270448.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.4957,0.6233,0.56,0.44,0.63,,,,,,,,,,,,,,,,
synonymous_variant,DVL2,SILENT,NM_004422.2:p.Gln285Gln/c.855G>A,caG/caA,LOW,,0.655152,0.6359,rs222837,,,,,,chr17,7132556,7132556,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln285Gln/c.855G>A|736|DVL2|protein_coding|CODING|NM_004422.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.5591,0.5229,0.61,0.80,0.51,,,,,,,,,,,,,,,,
synonymous_variant,DVL2,SILENT,NM_004422.2:p.Ser207Ser/c.621C>T,agC/agT,LOW,,0.452077,0.4712,rs222836,,,,,,chr17,7133162,7133162,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser207Ser/c.621C>T|736|DVL2|protein_coding|CODING|NM_004422.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5757,0.451,0.5109,0.46,0.34,0.52,,,,,,,,,,,,,,,,
synonymous_variant,DVL2,SILENT,NM_004422.2:p.Ser135Ser/c.405C>T,tcC/tcT,LOW,COSM4130555(1),0.332668,0.3859,rs2074216,,,,,,chr17,7133609,7133609,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser135Ser/c.405C>T|736|DVL2|protein_coding|CODING|NM_004422.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.268,0.3777,0.33,0.26,0.36,,,,,,,,,,,,,,,,
synonymous_variant,CTDNEP1,SILENT,NM_015343.4:p.Leu28Leu/c.82C>T,Ctg/Ttg,LOW,COSM437281(1),0.701078,0.6498,rs414206,,,,,,chr17,7154534,7154534,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu28Leu/c.82C>T|244|CTDNEP1|protein_coding|CODING|NM_015343.4|2|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu28Leu/c.82C>T|244|CTDNEP1|protein_coding|CODING|NM_001143775.1|1|1),upstream_gene_variant(MODIFIER||838||316|ELP5|protein_coding|CODING|NM_203415.1||1),upstream_gene_variant(MODIFIER||986||316|ELP5|protein_coding|CODING|NM_015362.4||1),upstream_gene_variant(MODIFIER||986||279|ELP5|protein_coding|CODING|NM_203413.2||1),upstream_gene_variant(MODIFIER||986||316|ELP5|protein_coding|CODING|NM_203414.2||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,HeLa-S3:H3K79me2,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.6421,0.5922,0.6342,0.69,0.84,0.62,,,,,,,,,,,,,,,,
missense_variant,CLDN7,MISSENSE,NM_001185022.1:p.Val197Ala/c.590T>C,gTa/gCa,MODERATE,,0.703674,0.6488,rs4562,0.57(T),0.0(B),-0.93(N),-0.9521(T),,chr17,7163739,7163739,A,G,het,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val197Ala/c.590T>C|211|CLDN7|protein_coding|CODING|NM_001185022.1|5|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val197Ala/c.590T>C|211|CLDN7|protein_coding|CODING|NM_001307.5|4|1),3_prime_UTR_variant(MODIFIER||67|c.*67T>C|145|CLDN7|protein_coding|CODING|NM_001185023.1|3|1),downstream_gene_variant(MODIFIER||480||316|ELP5|protein_coding|CODING|NM_015362.4||1),downstream_gene_variant(MODIFIER||480||279|ELP5|protein_coding|CODING|NM_203413.2||1),downstream_gene_variant(MODIFIER||480||316|ELP5|protein_coding|CODING|NM_203414.2||1),downstream_gene_variant(MODIFIER||480||316|ELP5|protein_coding|CODING|NM_203415.1||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:H3K4me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.6431,0.5937,0.6412,0.70,0.84,0.62,,0.505365(N),1.000(P),"-1.75,-1.75(D,D)",0.0000(T),0.023,-1.674509,4.92,4.92,-0.320000,1.455000,1.686000,0.192000,0.192000,0.012000,6.6125
synonymous_variant,GPS2,SILENT,NM_004489.4:p.Leu111Leu/c.333A>G,ctA/ctG,LOW,COSM437290(3),0.57488,0.6796,rs2292064,,,,,,chr17,7217463,7217463,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu111Leu/c.333A>G|327|GPS2|protein_coding|CODING|NM_004489.4|5|1),downstream_gene_variant(MODIFIER||1681||184|EIF5A|protein_coding|CODING|NM_001143760.1||1),downstream_gene_variant(MODIFIER||1681||154|EIF5A|protein_coding|CODING|NM_001143761.1||1),downstream_gene_variant(MODIFIER||1681||154|EIF5A|protein_coding|CODING|NM_001143762.1||1),downstream_gene_variant(MODIFIER||1681||154|EIF5A|protein_coding|CODING|NM_001970.4||1),downstream_gene_variant(MODIFIER||1488||1560|NEURL4|protein_coding|CODING|NM_001005408.1||1),downstream_gene_variant(MODIFIER||1488||1562|NEURL4|protein_coding|CODING|NM_032442.2||1)","H1ESC:H3K36me3,HepG2:H3K4me2,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,GM06990:H3K36me3,GM12878:H3K4me2,NHEK:DNase1",,,,0.6299,0.6484,0.5179,0.51,0.47,0.53,,,,,,,,,,,,,,,,
missense_variant,NEURL4,MISSENSE,NM_032442.2:p.Gln1019His/c.3057G>C,caG/caC,MODERATE,,0.205471,0.3819,rs3809813,0.55(T),"0.001,0.135(B,B)",1.845(L),-0.9147(T),,chr17,7224921,7224921,C,G,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln1017His/c.3051G>C|1560|NEURL4|protein_coding|CODING|NM_001005408.1|18|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln1019His/c.3057G>C|1562|NEURL4|protein_coding|CODING|NM_032442.2|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3006,0.2507,0.163,0.10,0.03,0.13,,0.015411(N),0.881(P),"1.52,1.52(T,T)",0.0000(T),0.219,0.502080,5.0,0.713,0.655000,0.359000,-0.472000,0.999000,1.000000,0.502000,5.8763
missense_variant,ACAP1,MISSENSE,NM_014716.3:p.Ala707Thr/c.2119G>A,Gca/Aca,MODERATE,COSM3766175(1),0.0427316,0.0357,rs35985803,0.37(T),0.001(B),0.255(N),-1.1084(T),,chr17,7254315,7254315,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala707Thr/c.2119G>A|740|ACAP1|protein_coding|CODING|NM_014716.3|21|1),upstream_gene_variant(MODIFIER||893||232|KCTD11|protein_coding|CODING|NM_001002914.2||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,IMR90:H2AK5ac,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0603,0.0389,0.0716,0.07,0.03,0.08,,0.279041(N),0.891(N),-0.72(T),0.0101(T),0.088,1.972076,4.53,0.24,-0.461000,-0.061000,0.407000,0.310000,0.996000,1.000000,7.096
synonymous_variant,TNK1,SILENT,NM_001251902.1:p.Leu27Leu/c.81T>A,ctT/ctA,LOW,COSM4000294(1),0.384585,0.2579,rs1554948,,,,,,chr17,7286326,7286326,T,A,het,"synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu27Leu/c.81T>A|666|TNK1|protein_coding|CODING|NM_001251902.1|2|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu27Leu/c.81T>A|661|TNK1|protein_coding|CODING|NM_003985.4|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.6012,0.3314,0.4533,0.41,0.31,0.46,,,,,,,,,,,,,,,,
splice_acceptor_variant,TNK1,protein_coding,NM_001251902.1:c.1413A>G,,HIGH,COSM3755835(2),0.0772764,0.1786,rs7220814,,,,,TNK1:1.00(2);,chr17,7290695,7290695,A,G,het,"splice_acceptor_variant(HIGH|||c.1413A>G|666|TNK1|protein_coding|CODING|NM_001251902.1|10|1),splice_acceptor_variant(HIGH|||c.1398A>G|661|TNK1|protein_coding|CODING|NM_003985.4|10|1),intron_variant(MODIFIER|||c.1413-2A>G|666|TNK1|protein_coding|CODING|NM_001251902.1|9|1),intron_variant(MODIFIER|||c.1398-2A>G|661|TNK1|protein_coding|CODING|NM_003985.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0276,0.1542,0.0686,0.04,0.01,0.06,,,0.000(P),,,.,1.750202,3.93,3.93,0.379000,2.026000,3.792000,0.054000,0.944000,0.980000,9.472
missense_variant,TNK1,MISSENSE,NM_001251902.1:p.Val598Met/c.1792G>A,Gtg/Atg,MODERATE,COSM4130593(1),0.725639,0.7718,rs6503018,,"0.179,0.087(B,B)",2.16(M),-1.0204(T),,chr17,7292107,7292107,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val598Met/c.1792G>A|666|TNK1|protein_coding|CODING|NM_001251902.1|12|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val593Met/c.1777G>A|661|TNK1|protein_coding|CODING|NM_003985.4|12|1),splice_region_variant(LOW|||c.1792G>A|666|TNK1|protein_coding|CODING|NM_001251902.1|12|1),splice_region_variant(LOW|||c.1777G>A|661|TNK1|protein_coding|CODING|NM_003985.4|12|1),downstream_gene_variant(MODIFIER||940||295|PLSCR3|protein_coding|CODING|NM_001201576.1||1),downstream_gene_variant(MODIFIER||940||295|PLSCR3|protein_coding|CODING|NM_020360.3||1),downstream_gene_variant(MODIFIER||940|||TMEM256-PLSCR3||NON_CODING|NR_037719.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7894,0.7925,0.9394,0.82,0.55,0.95,,0.102391(N),0.002(P),-1.63(D),0.0000(T),0.091,2.087246,5.0,0.321,-0.345000,0.565000,2.235000,0.056000,0.993000,1.000000,4.5509
missense_variant,PLSCR3,MISSENSE,NM_001201576.1:p.Val293Ile/c.877G>A,Gtc/Atc,MODERATE,,0.525359,0.2788,rs3744549,0.62(T),0.0(B),0(N),-1.0445(T),,chr17,7293715,7293715,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val293Ile/c.877G>A|295|PLSCR3|protein_coding|CODING|NM_001201576.1|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val293Ile/c.877G>A|295|PLSCR3|protein_coding|CODING|NM_020360.3|8|1),downstream_gene_variant(MODIFIER||623||666|TNK1|protein_coding|CODING|NM_001251902.1||1),downstream_gene_variant(MODIFIER||623||661|TNK1|protein_coding|CODING|NM_003985.4||1),non_coding_exon_variant(MODIFIER|||n.1381G>A||TMEM256-PLSCR3||NON_CODING|NR_037719.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6513,0.4914,0.8171,0.74,0.52,0.85,,0.546449(N),1.000(P),"2.32,2.32(T,T)",0.0000(T),0.064,-0.448027,5.69,-1.82,-2.680000,-0.780000,-1.714000,0.015000,0.959000,0.073000,8.4009
synonymous_variant,NLGN2,SILENT,NM_020795.3:p.Ser322Ser/c.966C>T,agC/agT,LOW,,0.76897,0.9534,rs2241233,,,,,,chr17,7318396,7318396,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser322Ser/c.966C>T|835|NLGN2|protein_coding|CODING|NM_020795.3|5|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7843,0.8919,0.8499,0.74,0.53,0.85,,,,,,,,,,,,,,,,
synonymous_variant,NLGN2,SILENT,NM_020795.3:p.Gly381Gly/c.1143C>T,ggC/ggT,LOW,COSM4000296(1),0.192292,0.1835,rs12947017,,,,,,chr17,7318935,7318935,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly381Gly/c.1143C>T|835|NLGN2|protein_coding|CODING|NM_020795.3|6|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0869,0.2464,0.3827,0.31,0.15,0.39,,,,,,,,,,,,,,,,
missense_variant,SPEM1,MISSENSE,NM_199339.2:p.Arg265Gln/c.794G>A,cGg/cAg,MODERATE,,0.0810703,0.1151,rs33989543,0.17(T),0.049(B),1.04(L),-1.0805(T),,chr17,7324788,7324788,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg265Gln/c.794G>A|309|SPEM1|protein_coding|CODING|NM_199339.2|3|1),downstream_gene_variant(MODIFIER||1605||835|NLGN2|protein_coding|CODING|NM_020795.3||1)",HepG2:H3K27me3,,,,0.0746,0.0836,0.0736,0.07,0.06,0.07,,0.090401(N),0.989(P),,0.0014(T),0.108,4.063878,5.65,3.66,-0.140000,0.732000,1.127000,0.709000,0.653000,0.547000,8.5979
synonymous_variant,SPEM1,SILENT,NM_199339.2:p.Pro286Pro/c.858C>G,ccC/ccG,LOW,,0.0814696,0.1161,rs34333422,,,,,,chr17,7324852,7324852,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro286Pro/c.858C>G|309|SPEM1|protein_coding|CODING|NM_199339.2|3|1),downstream_gene_variant(MODIFIER||1669||835|NLGN2|protein_coding|CODING|NM_020795.3||1)",HepG2:H3K27me3,,,,0.0746,0.0836,0.0746,0.07,0.06,0.07,,,,,,,,,,,,,,,,
missense_variant,ZBTB4,MISSENSE,NM_001128833.1:p.Met550Ile/c.1650G>C,atG/atC,MODERATE,,0.1873,0.1944,rs871990,0.11(T),0.0(B),0(N),-0.8947(T),,chr17,7366651,7366651,C,G,het,"missense_variant(MODERATE|MISSENSE|atG/atC|p.Met550Ile/c.1650G>C|1013|ZBTB4|protein_coding|CODING|NM_001128833.1|4|1),missense_variant(MODERATE|MISSENSE|atG/atC|p.Met550Ile/c.1650G>C|1013|ZBTB4|protein_coding|CODING|NM_020899.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.273,0.2277,0.1571,0.14,0.13,0.14,,0.971512(U),1.000(P),"3.9,3.9(T,T)",0.0000(T),0.049,0.088158,4.9,-9.81,-0.448000,-2.294000,-3.455000,0.509000,0.006000,0.000000,4.0539
missense_variant,SLC35G6,MISSENSE,NM_001102614.1:p.Ala51Thr/c.151G>A,Gct/Act,MODERATE,,0.185304,0.1935,rs3760422,0.37(T),0.997(D),0.695(N),-1.0354(T),,chr17,7385454,7385454,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala51Thr/c.151G>A|338|SLC35G6|protein_coding|CODING|NM_001102614.1|2|1),intron_variant(MODIFIER|||c.-81+1869C>T|1013|ZBTB4|protein_coding|CODING|NM_020899.3|1|1)",H1ESC:H3K27me3,,,,0.2566,0.2392,0.161,0.14,0.13,0.15,,,0.000(P),1.64(T),0.0000(T),0.145,1.678465,4.04,4.04,0.462000,1.959000,2.163000,0.086000,0.989000,0.643000,11.4032
synonymous_variant,POLR2A,SILENT,NM_000937.4:p.Leu198Leu/c.592T>C,Ttg/Ctg,LOW,COSM4130648(1),0.973243,1,rs9898024,,,,,,chr17,7400137,7400137,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu198Leu/c.592T>C|1970|POLR2A|protein_coding|CODING|NM_000937.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,1,0.9899,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,POLR2A,SILENT,NM_000937.4:p.Asn320Asn/c.960T>C,aaT/aaC,LOW,,0.117612,0.0536,rs2228128,,,,,,chr17,7400815,7400815,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn320Asn/c.960T>C|1970|POLR2A|protein_coding|CODING|NM_000937.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:Cmyc,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0961,0.1354,0.2664,0.22,0.09,0.28,,,,,,,,,,,,,,,,
synonymous_variant,POLR2A,SILENT,NM_000937.4:p.Ser607Ser/c.1821T>C,agT/agC,LOW,,0.973243,1,rs7217707,,,,,,chr17,7404107,7404107,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser607Ser/c.1821T>C|1970|POLR2A|protein_coding|CODING|NM_000937.4|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.97,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,POLR2A,SILENT,NM_000937.4:p.Asn764Asn/c.2292T>C,aaT/aaC,LOW,,0.913738,0.9464,rs2228130,,,,,,chr17,7404991,7404991,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn764Asn/c.2292T>C|1970|POLR2A|protein_coding|CODING|NM_000937.4|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9857,0.9712,0.9583,0.91,0.81,0.96,,,,,,,,,,,,,,,,
synonymous_variant,POLR2A,SILENT,NM_000937.4:p.Tyr891Tyr/c.2673C>T,taC/taT,LOW,,0.177117,0.1885,rs2071504,,,,,,chr17,7405937,7405937,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr891Tyr/c.2673C>T|1970|POLR2A|protein_coding|CODING|NM_000937.4|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2311,0.2334,0.162,0.14,0.13,0.15,,,,,,,,,,,,,,,,
synonymous_variant,POLR2A,SILENT,NM_000937.4:p.Phe1202Phe/c.3606T>C,ttT/ttC,LOW,,0.110423,0.2183,rs2228133,,,,,,chr17,7412403,7412403,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe1202Phe/c.3606T>C|1970|POLR2A|protein_coding|CODING|NM_000937.4|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0675,0.1859,0.0805,0.07,0.06,0.07,,,,,,,,,,,,,,,,
synonymous_variant,POLR2A,SILENT,NM_000937.4:p.Ser1700Ser/c.5100A>G,tcA/tcG,LOW,,1,1,rs9894023,,,,,,chr17,7416683,7416683,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1700Ser/c.5100A>G|1970|POLR2A|protein_coding|CODING|NM_000937.4|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,POLR2A,MISSENSE,NM_000937.4:p.Ala1835Thr/c.5503G>A,Gcc/Acc,MODERATE,,0.9998,1,rs4344809,1(T),0.0(B),-2.05(N),-0.9595(T),,chr17,7417086,7417086,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1835Thr/c.5503G>A|1970|POLR2A|protein_coding|CODING|NM_000937.4|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.016154(N),0.000(P),-0.46(T),0.0000(T),0.074,-0.093599,3.4,3.4,-0.943000,0.513000,4.206000,0.842000,0.043000,0.998000,8.0172
synonymous_variant,TNFSF12,SILENT,NM_003809.2:p.Ala200Ala/c.600G>C,gcG/gcC,LOW,COSM292476(8),0.547524,0.6458,rs3803798,,,,,,chr17,7460517,7460517,G,C,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala200Ala/c.600G>C|249|TNFSF12|protein_coding|CODING|NM_003809.2|7|1),upstream_gene_variant(MODIFIER||1092||223|TNFSF13|protein_coding|CODING|NM_001198622.1||1),upstream_gene_variant(MODIFIER||1092||222|TNFSF13|protein_coding|CODING|NM_001198623.1||1),upstream_gene_variant(MODIFIER||1092||205|TNFSF13|protein_coding|CODING|NM_001198624.1||1),upstream_gene_variant(MODIFIER||1092||250|TNFSF13|protein_coding|CODING|NM_003808.3||1),upstream_gene_variant(MODIFIER||1092||234|TNFSF13|protein_coding|CODING|NM_172087.2||1),upstream_gene_variant(MODIFIER||1092||247|TNFSF13|protein_coding|CODING|NM_172088.2||1),upstream_gene_variant(MODIFIER||1092|||TNFSF13||CODING|NR_073490.2||1),intron_variant(MODIFIER|||c.498+298G>C|330|TNFSF12-TNFSF13|protein_coding|CODING|NM_172089.3|6|1),non_coding_exon_variant(MODIFIER|||n.935G>C||TNFSF12||CODING|NR_037146.1|8|1)","HepG2:H3K4me2,H1ESC:DNase1,CD4:H4K20me1,HepG2:H3K4me3",,,,0.5951,0.6167,0.5139,0.50,0.45,0.52,,,,,,,,,,,,,,,,
synonymous_variant,TNFSF12,SILENT,NM_003809.2:p.Gly214Gly/c.642T>G,ggT/ggG,LOW,COSM3755898(1),0.980032,1,rs4968189,,,,,,chr17,7460559,7460559,T,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly214Gly/c.642T>G|249|TNFSF12|protein_coding|CODING|NM_003809.2|7|1),upstream_gene_variant(MODIFIER||1050||223|TNFSF13|protein_coding|CODING|NM_001198622.1||1),upstream_gene_variant(MODIFIER||1050||222|TNFSF13|protein_coding|CODING|NM_001198623.1||1),upstream_gene_variant(MODIFIER||1050||205|TNFSF13|protein_coding|CODING|NM_001198624.1||1),upstream_gene_variant(MODIFIER||1050||250|TNFSF13|protein_coding|CODING|NM_003808.3||1),upstream_gene_variant(MODIFIER||1050||234|TNFSF13|protein_coding|CODING|NM_172087.2||1),upstream_gene_variant(MODIFIER||1050||247|TNFSF13|protein_coding|CODING|NM_172088.2||1),upstream_gene_variant(MODIFIER||1050|||TNFSF13||CODING|NR_073490.2||1),intron_variant(MODIFIER|||c.498+340T>G|330|TNFSF12-TNFSF13|protein_coding|CODING|NM_172089.3|6|1),non_coding_exon_variant(MODIFIER|||n.977T>G||TNFSF12||CODING|NR_037146.1|8|1)","HepG2:H3K4me2,H1ESC:DNase1,CD4:H4K20me1,HepG2:H3K4me3,HepG2:DNase1",,,,1,0.9928,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
missense_variant,TNFSF12-TNFSF13,MISSENSE,NM_172089.3:p.Asn176Ser/c.527A>G,aAt/aGt,MODERATE,COSM4130672(1),0.559704,0.6498,rs3803800,1(T),"0.005,0.001,0.002,0.03(B,B,B,B)",1.61(L),-0.9025(T),,chr17,7462969,7462969,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn96Ser/c.287A>G|250|TNFSF13|protein_coding|CODING|NM_003808.3|2|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn96Ser/c.287A>G|234|TNFSF13|protein_coding|CODING|NM_172087.2|2|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn96Ser/c.287A>G|247|TNFSF13|protein_coding|CODING|NM_172088.2|2|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn176Ser/c.527A>G|330|TNFSF12-TNFSF13|protein_coding|CODING|NM_172089.3|7|1),downstream_gene_variant(MODIFIER||1762||249|TNFSF12|protein_coding|CODING|NM_003809.2||1),downstream_gene_variant(MODIFIER||1762|||TNFSF12||CODING|NR_037146.1||1),intron_variant(MODIFIER|||c.259-196A>G|223|TNFSF13|protein_coding|CODING|NM_001198622.1|1|1),intron_variant(MODIFIER|||c.259-199A>G|222|TNFSF13|protein_coding|CODING|NM_001198623.1|1|1),intron_variant(MODIFIER|||c.208-199A>G|205|TNFSF13|protein_coding|CODING|NM_001198624.1|2|1),intron_variant(MODIFIER|||n.1006+355A>G||TNFSF13||CODING|NR_073490.2|1|1)",HepG2:H3K4me2,"IgA_levels,Non_albumin_protein_levels,IgA_nephropathy",,,0.6319,0.585,0.7674,0.65,0.38,0.78,,0.976927(N),0.000(P),"-4.33,-4.33,1.47,1.49,-3.83,-3.79,-3.79(D,D,T,T,D,D,D)",0.0000(T),0.024,1.491471,4.58,2.35,0.459000,0.366000,1.119000,0.996000,0.990000,0.997000,6.0907
synonymous_variant,EIF4A1,SILENT,NM_001416.3:p.Ala49Ala/c.147G>C,gcG/gcC,LOW,,0.796725,0.7688,rs1057086,,,,,,chr17,7477938,7477938,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala49Ala/c.147G>C|347|EIF4A1|protein_coding|CODING|NM_001204510.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala49Ala/c.147G>C|406|EIF4A1|protein_coding|CODING|NM_001416.3|3|1),upstream_gene_variant(MODIFIER||93|||SNORA48||NON_CODING|NR_002918.1||1),non_coding_exon_variant(MODIFIER|||n.2710G>C||SENP3-EIF4A1||NON_CODING|NR_037926.1|14|1)","H1ESC:PolII,NHEK:H3K9ac,HSMM:H4K20me1,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,HeLa-S3:H3K79me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H4K20me1,IMR90:H3K4me2,HepG2:H4K20me1,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.9182,0.7133,0.9672,0.88,0.72,0.97,,,,,,,,,,,,,,,,
synonymous_variant,EIF4A1,SILENT,NM_001416.3:p.His132His/c.396C>T,caC/caT,LOW,,0.0642971,0.2054,rs11078698,,,,,,chr17,7479892,7479892,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His132His/c.396C>T|347|EIF4A1|protein_coding|CODING|NM_001204510.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His132His/c.396C>T|406|EIF4A1|protein_coding|CODING|NM_001416.3|5|1),upstream_gene_variant(MODIFIER||237|||SNORD10||NON_CODING|NR_002604.2||1),upstream_gene_variant(MODIFIER||1381|||SNORA67||NON_CODING|NR_002912.1||1),downstream_gene_variant(MODIFIER||1727|||SNORA48||NON_CODING|NR_002918.1||1),non_coding_exon_variant(MODIFIER|||n.2959C>T||SENP3-EIF4A1||NON_CODING|NR_037926.1|16|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H4K20me1,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:HEY1,GM06990:H3K36me3,NHEK:DNase1",,,,0.0153,0.098,0.0229,0.02,0.01,0.02,,,,,,,,,,,,,,,,
synonymous_variant,SAT2,SILENT,NM_133491.3:p.Pro98Pro/c.294G>A,ccG/ccA,LOW,COSM3755911(2),0.271366,0.3155,rs386617700,,,,,,chr17,7530271,7530271,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro98Pro/c.294G>A|170|SAT2|protein_coding|CODING|NM_133491.3|4|1),upstream_gene_variant(MODIFIER||1016||344|SHBG|protein_coding|CODING|NM_001289113.1||1),upstream_gene_variant(MODIFIER||1016||235|SHBG|protein_coding|CODING|NM_001289115.1||1),intron_variant(MODIFIER|||c.-61-3465C>T|344|SHBG|protein_coding|CODING|NM_001289114.1|1|1)","H1ESC:H3K36me3,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,HeLa-S3:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4489,0.2695,0.3887,0.28,0.08,0.39,,,,,,,,,,,,,,,,
synonymous_variant,ATP1B2,SILENT,NM_001678.3:p.Gly132Gly/c.396A>G,ggA/ggG,LOW,COSM4130693(1),0.789936,0.6687,rs1642763,,,,,,chr17,7557419,7557419,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly132Gly/c.396A>G|290|ATP1B2|protein_coding|CODING|NM_001678.3|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7342,0.8084,0.7843,0.80,0.87,0.77,,,,,,,,,,,,,,,,
missense_variant,TP53,MISSENSE,NM_000546.5:p.Pro72Arg/c.215C>G,cCc/cGc,MODERATE,,0.542931,0.5863,rs1042522,0.17(T),"0.0,0.128,0.147,0.045,0.372(B,B,B,B,B)",0(N),-0.9287(T),,chr17,7579472,7579472,G,C,hom,"missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|NM_000546.5|4|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|NM_001126112.2|4|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|346|TP53|protein_coding|CODING|NM_001126113.2|4|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|341|TP53|protein_coding|CODING|NM_001126114.2|4|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro33Arg/c.98C>G|354|TP53|protein_coding|CODING|NM_001126118.1|3|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro33Arg/c.98C>G|307|TP53|protein_coding|CODING|NM_001276695.1|4|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro33Arg/c.98C>G|302|TP53|protein_coding|CODING|NM_001276696.1|4|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro33Arg/c.98C>G|354|TP53|protein_coding|CODING|NM_001276760.1|4|1),missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro33Arg/c.98C>G|354|TP53|protein_coding|CODING|NM_001276761.1|4|1),upstream_gene_variant(MODIFIER||661||261|TP53|protein_coding|CODING|NM_001126115.1||1),upstream_gene_variant(MODIFIER||661||209|TP53|protein_coding|CODING|NM_001126116.1||1),upstream_gene_variant(MODIFIER||661||214|TP53|protein_coding|CODING|NM_001126117.1||1),upstream_gene_variant(MODIFIER||661||234|TP53|protein_coding|CODING|NM_001276697.1||1),upstream_gene_variant(MODIFIER||661||182|TP53|protein_coding|CODING|NM_001276698.1||1),upstream_gene_variant(MODIFIER||661||187|TP53|protein_coding|CODING|NM_001276699.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000013144.1|RCV000034639.1|RCV000079202.2|RCV000132165.1,,0.5082,0.683,0.7147,0.63,0.41,0.75,,0.370853(U),1.000(P),"-5.23,-5.74,-5.45,-5.74,-5.74,-5.45,-4.11,-2.05(D,D,D,D,D,D,D,D)",0.0000(T),0.267,0.823228,1.87,1.87,0.561000,1.355000,1.015000,0.002000,0.003000,0.002000,9.7733
missense_variant,WRAP53,MISSENSE,NM_018081.2:p.Arg68Gly/c.202C>G,Cgg/Ggg,MODERATE,,0.406749,0.2996,rs2287499,0.65(T),"0.0,0.0(B,B)",-0.805(N),-1.0023(T),,chr17,7592168,7592168,C,G,het,"missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg68Gly/c.202C>G|548|WRAP53|protein_coding|CODING|NM_018081.2|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg68Gly/c.202C>G|548|WRAP53|protein_coding|CODING|NM_001143990.1|2|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg68Gly/c.202C>G|548|WRAP53|protein_coding|CODING|NM_001143991.1|2|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg68Gly/c.202C>G|548|WRAP53|protein_coding|CODING|NM_001143992.1|2|1),upstream_gene_variant(MODIFIER||1300||393|TP53|protein_coding|CODING|NM_000546.5||1),upstream_gene_variant(MODIFIER||1300||393|TP53|protein_coding|CODING|NM_001126112.2||1),upstream_gene_variant(MODIFIER||1300||346|TP53|protein_coding|CODING|NM_001126113.2||1),upstream_gene_variant(MODIFIER||1300||341|TP53|protein_coding|CODING|NM_001126114.2||1),upstream_gene_variant(MODIFIER||1300||354|TP53|protein_coding|CODING|NM_001126118.1||1),upstream_gene_variant(MODIFIER||1300||307|TP53|protein_coding|CODING|NM_001276695.1||1),upstream_gene_variant(MODIFIER||1300||302|TP53|protein_coding|CODING|NM_001276696.1||1),upstream_gene_variant(MODIFIER||1300||354|TP53|protein_coding|CODING|NM_001276760.1||1),upstream_gene_variant(MODIFIER||1300||354|TP53|protein_coding|CODING|NM_001276761.1||1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ",,,,0.2577,0.2421,0.1421,0.33,0.74,0.12,,0.769471(N),1.000(P),"0.68,0.68,0.68,0.68,0.85(T,T,T,T,T)",0.0000(T),0.037,-0.772120,5.41,1.08,-1.100000,-0.094000,0.308000,0.056000,0.000000,0.000000,5.0994
missense_variant,WRAP53,MISSENSE,NM_001143990.1:p.Ala522Gly/c.1565C>G,gCg/gGg,MODERATE,COSM148183(1),0.511182,0.4077,rs7640,1(T),"0.0,0.0(B,B)",-0.885(N),-0.9929(T),,chr17,7606722,7606722,C,G,het,"missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala522Gly/c.1565C>G|548|WRAP53|protein_coding|CODING|NM_001143990.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala522Gly/c.1565C>G|548|WRAP53|protein_coding|CODING|NM_001143991.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala522Gly/c.1565C>G|548|WRAP53|protein_coding|CODING|NM_001143992.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala522Gly/c.1565C>G|548|WRAP53|protein_coding|CODING|NM_018081.2|10|1),upstream_gene_variant(MODIFIER||1798||340|EFNB3|protein_coding|CODING|NM_001406.3||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4785,0.3069,0.2336,0.40,0.79,0.19,,0.885533(N),1.000(P),"0.67,0.67,0.67,0.67,0.76(T,T,T,T,T)",0.0000(T),0.093,-1.279172,5.45,-6.63,-0.232000,-1.379000,-1.904000,0.172000,0.000000,0.000000,8.5577
missense_variant,WRAP53,MISSENSE,NM_001143990.1:p.Gly536Trp/c.1606G>T,Ggg/Tgg,MODERATE,,,,,0.07(T),"0.87,0.87(P,P)",1.95(M),-0.8096(T),,chr17,7606763,7606763,G,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly536Trp/c.1606G>T|548|WRAP53|protein_coding|CODING|NM_001143990.1|11|1),missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly536Trp/c.1606G>T|548|WRAP53|protein_coding|CODING|NM_001143991.1|11|1),missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly536Trp/c.1606G>T|548|WRAP53|protein_coding|CODING|NM_001143992.1|11|1),missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly536Trp/c.1606G>T|548|WRAP53|protein_coding|CODING|NM_018081.2|10|1),upstream_gene_variant(MODIFIER||1757||340|EFNB3|protein_coding|CODING|NM_001406.3||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.102229(N),1.000(N),"0.53,0.53,0.53,0.53,0.71(T,T,T,T,T)",0.2513(T),0.553,0.639290,5.34,4.38,0.549000,1.406000,1.814000,0.028000,0.032000,0.959000,10.0993
synonymous_variant,DNAH2,SILENT,NM_020877.2:p.Pro1384Pro/c.4152C>G,ccC/ccG,LOW,COSM3755946(2),0.358027,0.374,rs9909288,,,,,,chr17,7673928,7673928,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1384Pro/c.4152C>G|4427|DNAH2|protein_coding|CODING|NM_020877.2|25|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3742,0.4424,0.2913,0.28,0.32,0.26,,,,,,,,,,,,,,,,
synonymous_variant,DNAH2,SILENT,NM_020877.2:p.Ala1670Ala/c.5010G>A,gcG/gcA,LOW,COSM3755947(3),0.120407,0,rs62059684,,,,,,chr17,7680159,7680159,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1670Ala/c.5010G>A|4427|DNAH2|protein_coding|CODING|NM_020877.2|31|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0879,0.2046,0.3579,0.25,0.07,0.34,,,,,,,,,,,,,,,,
synonymous_variant,DNAH2,SILENT,NM_020877.2:p.Val1755Val/c.5265C>G,gtC/gtG,LOW,,0.761382,0.7976,rs7359662,,,,,,chr17,7681412,7681412,C,G,hom,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val1755Val/c.5265C>G|4427|DNAH2|protein_coding|CODING|NM_020877.2|33|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8855,0.8862,0.9503,0.79,0.51,0.94,,,,,,,,,,,,,,,,
synonymous_variant,DNAH2,SILENT,NM_020877.2:p.Ile1862Ile/c.5586C>T,atC/atT,LOW,,0.0714856,0.001,rs17806045,,,,,,chr17,7682605,7682605,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile1862Ile/c.5586C>T|4427|DNAH2|protein_coding|CODING|NM_020877.2|35|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0777,0.1527,0.169,0.11,0.03,0.14,,,,,,,,,,,,,,,,
missense_variant,DNAH2,MISSENSE,NM_020877.2:p.Thr3600Ile/c.10799C>T,aCt/aTt,MODERATE,,0.611022,0.3522,rs7213894,1(T),"0.0,0.0(B,B)",-3.685(N),-0.9467(T),,chr17,7722365,7722365,C,T,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr3600Ile/c.10799C>T|4427|DNAH2|protein_coding|CODING|NM_020877.2|70|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6892,0.5418,0.6064,0.65,0.75,0.60,,0.000001(N),0.000(P),1.87(T),0.0000(T),0.481,-1.459140,4.07,4.07,-0.521000,0.616000,5.350000,0.162000,0.753000,1.000000,7.3461
synonymous_variant,CHD3,SILENT,NM_001005271.2:p.Gly1198Gly/c.3594G>T,ggG/ggT,LOW,,0.000399361,0,rs61753146,,,,,,chr17,7806301,7806301,G,T,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1198Gly/c.3594G>T|2059|CHD3|protein_coding|CODING|NM_001005271.2|22|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1139Gly/c.3417G>T|2000|CHD3|protein_coding|CODING|NM_001005273.2|22|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1139Gly/c.3417G>T|1966|CHD3|protein_coding|CODING|NM_005852.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,CNTROB,SILENT,NM_001037144.5:p.Leu384Leu/c.1150C>T,Ctg/Ttg,LOW,COSM3766208(1),0.594848,0.8016,rs11078719,,,,,,chr17,7843053,7843053,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu384Leu/c.1150C>T|925|CNTROB|protein_coding|CODING|NM_001037144.5|8|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu384Leu/c.1150C>T|903|CNTROB|protein_coding|CODING|NM_053051.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.727,0.6398,0.4274,0.45,0.46,0.44,,,,,,,,,,,,,,,,
missense_variant,CNTROB,MISSENSE,NM_001037144.5:p.Pro578Gln/c.1733C>A,cCa/cAa,MODERATE,COSM1387479(3),0.604633,0.8016,rs11650083,0.67(T),"0.001,0.001,0.007(B,B,B)",0.46(N),-0.9546(T),,chr17,7847955,7847955,C,A,het,"missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro578Gln/c.1733C>A|925|CNTROB|protein_coding|CODING|NM_001037144.5|12|1),missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro578Gln/c.1733C>A|903|CNTROB|protein_coding|CODING|NM_053051.3|12|1),splice_region_variant(LOW|||c.1733C>A|925|CNTROB|protein_coding|CODING|NM_001037144.5|12|1),splice_region_variant(LOW|||c.1733C>A|903|CNTROB|protein_coding|CODING|NM_053051.3|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7342,0.6614,0.4493,0.46,0.47,0.46,,0.951533(N),1.000(P),1.16(T),0.0000(T),0.09,0.957899,4.56,-2.37,0.561000,-0.113000,-0.104000,0.010000,0.002000,0.021000,4.5619
synonymous_variant,CNTROB,SILENT,NM_001037144.5:p.Pro592Pro/c.1776C>G,ccC/ccG,LOW,COSM1387480(2),0.63099,0.8016,rs4462665,0.32(T),,,-1.0489(T),,chr17,7849087,7849087,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro592Pro/c.1776C>G|925|CNTROB|protein_coding|CODING|NM_001037144.5|13|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro592Pro/c.1776C>G|903|CNTROB|protein_coding|CODING|NM_053051.3|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7342,0.67,0.4493,0.49,0.55,0.46,,0.212908(N),0.285(P),0.87(T),0.0000(T),.,-1.015843,5.48,-5.31,-2.784000,-1.742000,-1.603000,0.109000,0.002000,0.000000,7.964
synonymous_variant,GUCY2D,SILENT,NM_000180.3:p.His247His/c.741C>T,caC/caT,LOW,COSM4130789(1),0.112021,0.2103,rs3829789,,,,,,chr17,7907189,7907189,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His247His/c.741C>T|1103|GUCY2D|protein_coding|CODING|NM_000180.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,RCV000078321.1,,0.0951,0.1037,0.1034,0.11,0.08,0.12,,,,,,,,,,,,,,,,
synonymous_variant,GUCY2D,SILENT,NM_000180.3:p.Ala703Ala/c.2109G>A,gcG/gcA,LOW,COSM3766211(1),0.0806709,0.002,rs56130505,,,,,,chr17,7915920,7915920,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala703Ala/c.2109G>A|1103|GUCY2D|protein_coding|CODING|NM_000180.3|10|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000084852.1,,0.0317,0.0519,0.0815,0.13,0.19,0.10,,,,,,,,,,,,,,,,
missense_variant,GUCY2D,MISSENSE,NM_000180.3:p.Leu782His/c.2345T>A,cTc/cAc,MODERATE,COSM3756014(2),0.171326,0.001,rs8069344,0.31(T),0.0(B),-0.51(N),-0.9241(T),,chr17,7917279,7917279,T,A,het,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu782His/c.2345T>A|1103|GUCY2D|protein_coding|CODING|NM_000180.3|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1299,0.0937,0.1014,0.22,0.39,0.13,,0.079134(N),1.000(P),0.07(T),0.0000(T),0.099,1.375000,5.44,3.12,-0.257000,0.487000,2.697000,0.262000,0.993000,1.000000,4.145
synonymous_variant,ALOX15B,SILENT,NM_001141.2:p.Thr115Thr/c.345C>G,acC/acG,LOW,COSM3749425(8),0.263578,0.3859,rs76589243,,,,,,chr17,7942901,7942901,C,G,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr115Thr/c.345C>G|647|ALOX15B|protein_coding|CODING|NM_001039130.1|2|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr115Thr/c.345C>G|602|ALOX15B|protein_coding|CODING|NM_001039131.1|2|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr115Thr/c.345C>G|676|ALOX15B|protein_coding|CODING|NM_001141.2|2|1)","NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.2014,0.2608,0.3598,0.22,0.14,0.26,,,,,,,,,,,,,,,,
synonymous_variant,ALOXE3,SILENT,NM_001165960.1:p.Ser840Ser/c.2520C>T,agC/agT,LOW,COSM437813(2),0.42472,0.6022,rs3809881,,,,,,chr17,7999957,7999957,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser840Ser/c.2520C>T|843|ALOXE3|protein_coding|CODING|NM_001165960.1|16|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser708Ser/c.2124C>T|711|ALOXE3|protein_coding|CODING|NM_021628.2|16|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3763,0.5735,0.4205,0.37,0.27,0.42,,,,,,,,,,,,,,,,
missense_variant,PER1,MISSENSE,NM_002616.2:p.Ala962Pro/c.2884G>C,Gcc/Ccc,MODERATE,COSM3766231(2),0.771765,0.5337,rs2585405,0.52(T),0.0(B),-0.205(N),-1.0415(T),,chr17,8046772,8046772,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala962Pro/c.2884G>C|1290|PER1|protein_coding|CODING|NM_002616.2|19|1),downstream_gene_variant(MODIFIER||1540|||MIR6883||NON_CODING|NR_106943.1||1)","H1ESC:H3K36me3,NHEK:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.8712,0.8357,0.8917,0.86,0.79,0.90,,0.082081(N),1.000(P),2.59(T),0.0000(T),0.084,-1.546402,5.35,3.22,-0.352000,0.658000,1.592000,0.003000,0.392000,0.866000,12.9354
synonymous_variant,PER1,SILENT,NM_002616.2:p.Thr787Thr/c.2361A>G,acA/acG,LOW,COSM4130865(1),0.570288,0.2847,rs2253820,,,,,,chr17,8048169,8048169,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr787Thr/c.2361A>G|1290|PER1|protein_coding|CODING|NM_002616.2|18|1),downstream_gene_variant(MODIFIER||143|||MIR6883||NON_CODING|NR_106943.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.7382,0.5029,0.8241,0.74,0.55,0.84,,,,,,,,,,,,,,,,
synonymous_variant,PER1,SILENT,NM_002616.2:p.Gly749Gly/c.2247C>T,ggC/ggT,LOW,COSM4130866(2),0.570487,0.2837,rs2735611,,,,,,chr17,8048283,8048283,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly749Gly/c.2247C>T|1290|PER1|protein_coding|CODING|NM_002616.2|18|1),downstream_gene_variant(MODIFIER||29|||MIR6883||NON_CODING|NR_106943.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.7382,0.5029,0.8241,0.74,0.56,0.84,,,,,,,,,,,,,,,,
synonymous_variant,C17orf59,SILENT,NM_017622.2:p.Pro255Pro/c.765A>C,ccA/ccC,LOW,COSM3756056(3),0.600639,0.2887,rs386617465,,,,,,chr17,8092694,8092694,T,G,hom,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro255Pro/c.765A>C|357|C17orf59|protein_coding|CODING|NM_017622.2|1|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7597,0.4971,0.827,0.77,0.67,0.82,,,,,,,,,,,,,,,,
missense_variant,C17orf59,MISSENSE,NM_017622.2:p.Glu141Lys/c.421G>A,Gag/Aag,MODERATE,,,,rs144247363,0.11(T),0.001(B),0.695(N),-1.0265(T),,chr17,8093038,8093038,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu141Lys/c.421G>A|357|C17orf59|protein_coding|CODING|NM_017622.2|1|1),"NHEK:CTCF,NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,0.00,0.00,0.00,,0.600661(U),1.000(N),,0.0664(T),0.153,1.008284,5.02,1.8,0.561000,0.125000,0.318000,0.185000,0.007000,0.000000,6.5537
missense_variant,AURKB,MISSENSE,NM_001284526.1:p.Met299Thr/c.896T>C,aTg/aCg,MODERATE,COSM4130880(2),0.736022,0.5516,rs1059476,0.39(T),"0.0,0.0(B,B)",-0.25(N),-0.9915(T),,chr17,8108331,8108331,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met257Thr/c.770T>C|303|AURKB|protein_coding|CODING|NM_001256834.1|8|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met299Thr/c.896T>C|345|AURKB|protein_coding|CODING|NM_001284526.1|9|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met298Thr/c.893T>C|344|AURKB|protein_coding|CODING|NM_004217.3|9|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8487,0.8141,0.8827,0.82,0.70,0.88,,0.189864(N),1.000(P),-0.07(T),0.0000(T),0.329,-1.165487,4.91,-1.93,-1.234000,-0.814000,1.251000,0.153000,0.000000,0.001000,4.479
synonymous_variant,AURKB,SILENT,NM_001284526.1:p.Ser296Ser/c.888C>T,tcC/tcT,LOW,COSM3766233(3),0.620807,0.5179,rs2241909,,,,,,chr17,8108339,8108339,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser254Ser/c.762C>T|303|AURKB|protein_coding|CODING|NM_001256834.1|8|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser296Ser/c.888C>T|345|AURKB|protein_coding|CODING|NM_001284526.1|9|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser295Ser/c.885C>T|344|AURKB|protein_coding|CODING|NM_004217.3|9|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7229,0.696,0.66,0.62,0.57,0.65,,,,,,,,,,,,,,,,
missense_variant,CTC1,MISSENSE,NM_025099.5:p.Ile1005Val/c.3013A>G,Att/Gtt,MODERATE,COSM4130882(2),0.663538,0.3611,rs3826543,1(T),0.0(B),0.69(N),-0.9187(T),,chr17,8132763,8132763,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1005Val/c.3013A>G|1217|CTC1|protein_coding|CODING|NM_025099.5|19|1),splice_region_variant(LOW|||c.3013A>G|1217|CTC1|protein_coding|CODING|NM_025099.5|19|1),splice_region_variant(LOW|||n.2967A>G||CTC1||CODING|NR_046431.1|19|1),non_coding_exon_variant(MODIFIER|||n.2967A>G||CTC1||CODING|NR_046431.1|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116841.2,,0.7321,0.6311,0.832,0.80,0.77,0.81,,0.733603(N),1.000(P),"-1.49,-1.49(T,T)",0.0000(T),0.016,-0.792979,5.56,-3.33,-2.198000,-0.769000,-0.768000,0.002000,0.000000,0.000000,1.4105
missense_variant,CTC1,MISSENSE,NM_025099.5:p.Ile820Val/c.2458A>G,Ata/Gta,MODERATE,,0.9373,0.9881,rs3027238,1(T),0.001(B),-0.42(N),-0.9529(T),,chr17,8135061,8135061,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile820Val/c.2458A>G|1217|CTC1|protein_coding|CODING|NM_025099.5|14|1),non_coding_exon_variant(MODIFIER|||n.2412A>G||CTC1||CODING|NR_046431.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116840.2,,0.9264,0.8775,0.9742,0.95,0.93,0.96,,0.013712(N),1.000(P),"-1.33,-1.33(T,T)",0.0000(T),0.089,-1.013646,5.8,1.07,-2.908000,0.116000,0.382000,0.004000,0.145000,0.061000,5.9614
missense_variant,PFAS,MISSENSE,NM_012393.2:p.Pro19Ser/c.55C>T,Cct/Tct,MODERATE,,0.634784,0.5595,rs9891699,0.59(T),0.0(B),-1.04(N),-1.0376(T),,chr17,8157310,8157310,C,T,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro19Ser/c.55C>T|1338|PFAS|protein_coding|CODING|NM_012393.2|2|1),"H1ESC:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6472,0.7939,0.827,0.70,0.51,0.80,,0.058038(N),1.000(P),1.04(T),0.0000(T),0.176,-0.728658,5.25,-1.22,-2.885000,-0.816000,0.069000,0.715000,0.000000,0.000000,2.9369
missense_variant,PFAS,MISSENSE,NM_012393.2:p.Pro367Leu/c.1100C>T,cCa/cTa,MODERATE,COSM3766235(1),0.338858,0.2272,rs386595479,0(D),0.004(B),1.575(L),-0.9394(T),,chr17,8161149,8161149,C,T,hom,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro367Leu/c.1100C>T|1338|PFAS|protein_coding|CODING|NM_012393.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4213,0.3184,0.5288,0.42,0.28,0.49,,0.001378(N),0.000(P),1.04(T),0.0000(T),0.072,2.458258,5.79,4.82,0.561000,1.467000,1.652000,0.975000,0.408000,0.006000,12.4284
missense_variant,PFAS,MISSENSE,NM_012393.2:p.Leu621Pro/c.1862T>C,cTg/cCg,MODERATE,,0.525759,0.2708,rs11078738,1(T),"0.0,0.0(B,B)",0(N),-0.9457(T),,chr17,8167600,8167600,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu621Pro/c.1862T>C|1338|PFAS|protein_coding|CODING|NM_012393.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5153,0.5677,0.7694,0.69,0.57,0.75,,0.005828(N),1.000(P),"1.34,2.08(T,T)",0.0000(T),0.118,0.275891,5.75,1.53,-0.964000,-0.109000,0.220000,0.003000,0.000000,0.000000,5.6681
synonymous_variant,PFAS,SILENT,NM_012393.2:p.Ser687Ser/c.2061T>C,tcT/tcC,LOW,COSM437866(2),0.529353,0.2708,rs9902252,,,,,,chr17,8168224,8168224,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser687Ser/c.2061T>C|1338|PFAS|protein_coding|CODING|NM_012393.2|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5123,0.5692,0.7704,0.70,0.58,0.76,,,,,,,,,,,,,,,,
missense_variant,ARHGEF15,MISSENSE,NM_025014.1:p.Ser831Pro/c.2491T>C,Tct/Cct,MODERATE,,0.577875,0.4256,rs3744647,0.36(T),0.0(B),-0.55(N),-0.9386(T),,chr17,8224276,8224276,T,C,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser831Pro/c.2491T>C|841|ARHGEF15|protein_coding|CODING|NM_025014.1|16|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser831Pro/c.2491T>C|841|ARHGEF15|protein_coding|CODING|NM_173728.3|16|1)","GM06990:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4734,0.6988,0.6342,0.64,0.67,0.63,,0.340874(N),1.000(P),"-0.4,-0.4(T,T)",0.0000(T),0.101,-2.192952,4.09,0.487,-0.213000,-0.060000,-1.059000,0.076000,0.091000,0.000000,6.9304
missense_variant,ODF4,MISSENSE,NM_153007.4:p.Arg77Cys/c.229C>T,Cgc/Tgc,MODERATE,,0.0982428,0.0139,rs73250854,0(D),0.833(P),1.32(L),-1.0824(T),,chr17,8243598,8243598,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg77Cys/c.229C>T|257|ODF4|protein_coding|CODING|NM_153007.4|1|1),HepG2:H3K27me3,,,,0.0849,0.098,0.1024,0.12,0.14,0.11,,0.573108(N),1.000(P),0.99(T),0.0005(T),0.158,1.916018,4.89,2.84,0.655000,0.615000,0.702000,0.003000,0.001000,0.013000,5.6501
missense_variant,ODF4,MISSENSE,NM_153007.4:p.Val98Met/c.292G>A,Gtg/Atg,MODERATE,COSM148189(1),0.538938,0.3214,rs12601097,1(T),0.0(B),-1.65(N),-0.9430(T),,chr17,8243661,8243661,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val98Met/c.292G>A|257|ODF4|protein_coding|CODING|NM_153007.4|1|1),HepG2:H3K27me3,,,,0.4468,0.647,0.6223,0.64,0.65,0.63,,0.006962(N),0.000(P),2.02(T),0.0000(T),0.041,-1.573078,4.89,4.89,-0.254000,0.887000,1.035000,0.017000,0.988000,0.918000,7.3683
missense_variant,ODF4,MISSENSE,NM_153007.4:p.Tyr139Cys/c.416A>G,tAc/tGc,MODERATE,,0.538938,0.3214,rs12936935,1(T),0.0(B),-1.245(N),-0.9353(T),,chr17,8243785,8243785,A,G,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr139Cys/c.416A>G|257|ODF4|protein_coding|CODING|NM_153007.4|1|1),HepG2:H3K27me3,,,,0.4468,0.647,0.6223,0.64,0.65,0.63,,0.024200(N),1.000(P),1.88(T),0.0000(T),0.081,-1.222525,4.89,3.92,-0.119000,0.672000,1.156000,0.026000,0.081000,0.420000,7.4417
missense_variant,RNF222,MISSENSE,NM_001146684.2:p.Ala133Thr/c.397G>A,Gcc/Acc,MODERATE,COSM3749428(5),0.183307,0.1954,rs12601362,0.07(T),0.0(B),0.345(N),-0.9836(T),,chr17,8296383,8296383,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala133Thr/c.397G>A|220|RNF222|protein_coding|CODING|NM_001146684.2|3|1),"CD4:H4K91ac,CD4:H2BK20ac,HepG2:H3K27me3",,,,0.2188,0.1657,0.2346,0.18,0.12,0.21,,0.819153(N),1.000(P),,0.0000(T),0.008,-0.305162,4.22,-3.43,0.549000,-0.331000,-0.068000,0.224000,0.000000,0.001000,2.2125
missense_variant,RNF222,MISSENSE,NM_001146684.2:p.Pro114Ser/c.340C>T,Cct/Tct,MODERATE,COSM3749429(5),0.652556,0.3502,rs12601265,0.81(T),0.001(B),1.04(L),-0.9550(T),,chr17,8296440,8296440,G,A,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro114Ser/c.340C>T|220|RNF222|protein_coding|CODING|NM_001146684.2|3|1),"CD4:H4K91ac,CD4:H2BK20ac,CD4:H2BK120ac,HepG2:H3K27me3",,,,0.592,0.7594,0.7515,,,,,0.515149(N),1.000(P),,0.0000(T),0.087,-1.902163,4.21,2.17,-1.013000,0.155000,0.221000,0.003000,0.137000,0.008000,9.4381
synonymous_variant,MYH10,SILENT,NM_001256012.1:p.Thr900Thr/c.2700G>A,acG/acA,LOW,COSM1130107(1),0.423323,0.502,rs11374,,,,,,chr17,8416901,8416901,C,T,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr900Thr/c.2700G>A|2007|MYH10|protein_coding|CODING|NM_001256012.1|23|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr878Thr/c.2634G>A|1985|MYH10|protein_coding|CODING|NM_001256095.1|22|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr869Thr/c.2607G>A|1976|MYH10|protein_coding|CODING|NM_005964.3|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4632,0.4323,0.3519,0.38,0.38,0.38,,,,,,,,,,,,,,,,
synonymous_variant,MYH10,SILENT,NM_001256012.1:p.Asn733Asn/c.2199C>T,aaC/aaT,LOW,,0.979433,1,rs8067456,,,,,,chr17,8424270,8424270,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn733Asn/c.2199C>T|2007|MYH10|protein_coding|CODING|NM_001256012.1|19|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn711Asn/c.2133C>T|1985|MYH10|protein_coding|CODING|NM_001256095.1|18|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn702Asn/c.2106C>T|1976|MYH10|protein_coding|CODING|NM_005964.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9957,0.999,0.97,0.91,1.00,,,,,,,,,,,,,,,,
missense_variant,SPDYE4,MISSENSE,NM_001128076.1:p.Ala141Val/c.422C>T,gCg/gTg,MODERATE,COSM3890741(1),0.0247604,0,rs74844184,0.53(T),0.28(B),1.42(L),-1.0601(T),,chr17,8658901,8658901,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala141Val/c.422C>T|237|SPDYE4|protein_coding|CODING|NM_001128076.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0072,0.0548,0.0765,0.06,0.01,0.09,,0.000014(D),1.000(P),,0.0045(T),0.33,1.087856,2.98,2.98,0.411000,1.663000,0.068000,0.006000,0.209000,0.002000,9.5264
missense_variant,MFSD6L,MISSENSE,NM_152599.3:p.Pro214Thr/c.640C>A,Cct/Act,MODERATE,COSM4000363(1),0.26857,0.4256,rs17854013,0.66(T),0.598(P),1.39(L),-0.9630(T),,chr17,8701799,8701799,G,T,hom,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro214Thr/c.640C>A|586|MFSD6L|protein_coding|CODING|NM_152599.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2658,0.2147,0.1889,0.20,0.22,0.19,,0.106692(N),1.000(P),0.94(T),0.0000(T),0.035,0.969329,4.86,3.89,0.655000,1.257000,1.414000,0.070000,0.560000,0.002000,12.0746
synonymous_variant,PIK3R5,SILENT,NM_001142633.2:p.Ser367Ser/c.1101G>A,tcG/tcA,LOW,,0.203075,0.001,rs9915880,,,,,,chr17,8792003,8792003,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser367Ser/c.1101G>A|880|PIK3R5|protein_coding|CODING|NM_001142633.2|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser367Ser/c.1101G>A|880|PIK3R5|protein_coding|CODING|NM_014308.3|10|1),5_prime_UTR_variant(MODIFIER||58|c.-58G>A|494|PIK3R5|protein_coding|CODING|NM_001251852.1|9|1),5_prime_UTR_variant(MODIFIER||58|c.-58G>A|494|PIK3R5|protein_coding|CODING|NM_001251853.1|9|1),5_prime_UTR_variant(MODIFIER||58|c.-58G>A|494|PIK3R5|protein_coding|CODING|NM_001251855.1|9|1),5_prime_UTR_variant(MODIFIER||58|c.-58G>A|494|PIK3R5|protein_coding|CODING|NM_001251851.1|10|1)","K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,HUVEC:DNase1,HSMM:DNase1,CD4:H3K36me3,K562:Rad21,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,RCV000118165.2,,0.1401,0.2853,0.2833,0.31,0.29,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PIK3R5,SILENT,NM_001142633.2:p.Leu359Leu/c.1075T>C,Ttg/Ctg,LOW,COSM3756060(1),0.44349,0.1786,rs381309,,,,,,chr17,8792029,8792029,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu359Leu/c.1075T>C|880|PIK3R5|protein_coding|CODING|NM_001142633.2|10|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu359Leu/c.1075T>C|880|PIK3R5|protein_coding|CODING|NM_014308.3|10|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251852.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251853.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251855.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251851.1|10|1),5_prime_UTR_variant(MODIFIER||84|c.-84T>C|494|PIK3R5|protein_coding|CODING|NM_001251852.1|9|1),5_prime_UTR_variant(MODIFIER||84|c.-84T>C|494|PIK3R5|protein_coding|CODING|NM_001251853.1|9|1),5_prime_UTR_variant(MODIFIER||84|c.-84T>C|494|PIK3R5|protein_coding|CODING|NM_001251855.1|9|1),5_prime_UTR_variant(MODIFIER||84|c.-84T>C|494|PIK3R5|protein_coding|CODING|NM_001251851.1|10|1)","K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,HSMM:DNase1,CD4:H3K36me3,K562:Rad21,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,RCV000117913.2,,0.4162,0.4049,0.3907,0.50,0.66,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PIK3R5,SILENT,NM_001142633.2:p.Asp337Asp/c.1011C>T,gaC/gaT,LOW,COSM3756061(2),0.203075,0.001,rs16957702,,,,,,chr17,8792093,8792093,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp337Asp/c.1011C>T|880|PIK3R5|protein_coding|CODING|NM_001142633.2|10|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp337Asp/c.1011C>T|880|PIK3R5|protein_coding|CODING|NM_014308.3|10|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251852.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251853.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251855.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251851.1|10|1),5_prime_UTR_variant(MODIFIER||148|c.-148C>T|494|PIK3R5|protein_coding|CODING|NM_001251852.1|9|1),5_prime_UTR_variant(MODIFIER||148|c.-148C>T|494|PIK3R5|protein_coding|CODING|NM_001251853.1|9|1),5_prime_UTR_variant(MODIFIER||148|c.-148C>T|494|PIK3R5|protein_coding|CODING|NM_001251855.1|9|1),5_prime_UTR_variant(MODIFIER||148|c.-148C>T|494|PIK3R5|protein_coding|CODING|NM_001251851.1|10|1)","K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,CD4:H3K36me3,K562:Rad21,HepG2:CTCF,HepG2:H3K27me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,RCV000117912.2,,0.1401,0.2839,0.2843,0.31,0.30,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PIK3R5,SILENT,NM_001142633.2:p.Leu311Leu/c.933A>G,ctA/ctG,LOW,COSM1130104(5),0.203075,0.001,rs11650737,,,,,,chr17,8792171,8792171,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu311Leu/c.933A>G|880|PIK3R5|protein_coding|CODING|NM_001142633.2|10|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu311Leu/c.933A>G|880|PIK3R5|protein_coding|CODING|NM_014308.3|10|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251852.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251853.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251855.1|9|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||494|PIK3R5|protein_coding|CODING|NM_001251851.1|10|1),5_prime_UTR_variant(MODIFIER||226|c.-226A>G|494|PIK3R5|protein_coding|CODING|NM_001251852.1|9|1),5_prime_UTR_variant(MODIFIER||226|c.-226A>G|494|PIK3R5|protein_coding|CODING|NM_001251853.1|9|1),5_prime_UTR_variant(MODIFIER||226|c.-226A>G|494|PIK3R5|protein_coding|CODING|NM_001251855.1|9|1),5_prime_UTR_variant(MODIFIER||226|c.-226A>G|494|PIK3R5|protein_coding|CODING|NM_001251851.1|10|1)","GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000117915.2,,0.1401,0.2839,0.2843,0.31,0.30,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PIK3R5,SILENT,NM_001142633.2:p.His279His/c.837C>T,caC/caT,LOW,COSM3756062(1),0.442692,0.1786,rs394811,,,,,,chr17,8792514,8792514,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His279His/c.837C>T|880|PIK3R5|protein_coding|CODING|NM_001142633.2|9|1),synonymous_variant(LOW|SILENT|caC/caT|p.His279His/c.837C>T|880|PIK3R5|protein_coding|CODING|NM_014308.3|9|1),5_prime_UTR_variant(MODIFIER||569|c.-384C>T|494|PIK3R5|protein_coding|CODING|NM_001251851.1|9|1),5_prime_UTR_variant(MODIFIER||569|c.-322C>T|494|PIK3R5|protein_coding|CODING|NM_001251852.1|8|1),5_prime_UTR_variant(MODIFIER||569|c.-322C>T|494|PIK3R5|protein_coding|CODING|NM_001251853.1|8|1),5_prime_UTR_variant(MODIFIER||569|c.-322C>T|494|PIK3R5|protein_coding|CODING|NM_001251855.1|8|1)","GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000117914.2,,0.4131,0.4049,0.3907,0.50,0.66,0.42,,,,,,,,,,,,,,,,
synonymous_variant,STX8,SILENT,NM_004853.2:p.Asp152Asp/c.456C>T,gaC/gaT,LOW,,0.71226,0.8462,rs9893664,,,,,,chr17,9395231,9395231,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp152Asp/c.456C>T|236|STX8|protein_coding|CODING|NM_004853.2|6|1),non_coding_exon_variant(MODIFIER|||n.400C>T||STX8||CODING|NR_033656.1|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.683,0.7983,0.8628,0.73,0.51,0.84,,,,,,,,,,,,,,,,
synonymous_variant,STX8,SILENT,NM_004853.2:p.Arg32Arg/c.94A>C,Aga/Cga,LOW,,0.680112,0.9891,rs1133295,,,,,,chr17,9471711,9471711,T,G,hom,"synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg32Arg/c.94A>C|236|STX8|protein_coding|CODING|NM_004853.2|2|1),non_coding_exon_variant(MODIFIER|||n.244A>C||STX8||CODING|NR_033656.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.8372,0.8002,0.64,0.36,0.78,,,,,,,,,,,,,,,,
missense_variant,WDR16,MISSENSE,NM_145054.4:p.Glu336Lys/c.1006G>A,Gag/Aag,MODERATE,COSM148192(1),0.599641,0.5714,rs6503235,0.75(T),"0.002,0.001,0.0(B,B,B)",-1.245(N),-0.9144(T),,chr17,9515777,9515777,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu268Lys/c.802G>A|552|WDR16|protein_coding|CODING|NM_001080556.1|7|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu336Lys/c.1006G>A|620|WDR16|protein_coding|CODING|NM_145054.4|8|1)",,,,,0.7403,0.7594,0.7594,0.64,0.41,0.76,,0.022601(N),1.000(P),"2.58,-2.61,5.07(T,D,T)",0.0000(T),0.065,0.470932,5.53,0.828,-0.312000,-0.055000,0.842000,0.119000,0.154000,0.598000,13.1025
synonymous_variant,DHRS7C,SILENT,NM_001220493.1:p.Phe274Phe/c.822T>C,ttT/ttC,LOW,,0.0425319,0.0387,rs11654889,,,,,,chr17,9674922,9674922,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe273Phe/c.819T>C|311|DHRS7C|protein_coding|CODING|NM_001105571.2|6|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe274Phe/c.822T>C|312|DHRS7C|protein_coding|CODING|NM_001220493.1|6|1)",HepG2:H3K27me3,,,,0.0542,0.0504,0.0755,0.07,0.03,0.09,,,,,,,,,,,,,,,,
synonymous_variant,DHRS7C,SILENT,NM_001220493.1:p.Val256Val/c.768A>G,gtA/gtG,LOW,,0.0415335,0.0387,rs11655932,,,,,,chr17,9674976,9674976,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val255Val/c.765A>G|311|DHRS7C|protein_coding|CODING|NM_001105571.2|6|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val256Val/c.768A>G|312|DHRS7C|protein_coding|CODING|NM_001220493.1|6|1)",HepG2:H3K27me3,,,,0.0542,0.0504,0.0755,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,GLP2R,SILENT,NM_004246.1:p.Glu158Glu/c.474A>G,gaA/gaG,LOW,COSM4130906(1),0.0327476,0.0764,rs114610622,,,,-0.8768(T),,chr17,9745903,9745903,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu158Glu/c.474A>G|553|GLP2R|protein_coding|CODING|NM_004246.1|4|1),"HeLa-S3:Cmyc,HepG2:H3K4me2,HeLa-S3:DNase1,HeLa-S3:Max,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:FOXA2,HepG2:FOXA1",,,,0.0481,0.0159,0.0268,0.02,0.01,0.02,,,1.000(D),,0.0563(T),.,1.514846,5.06,5.06,0.533000,2.135000,2.390000,0.995000,1.000000,1.000000,13.9411
missense_variant,GLP2R,MISSENSE,NM_004246.1:p.Asp470Asn/c.1408G>A,Gac/Aac,MODERATE,COSM3756070(1),0.100639,0.002,rs17681684,0.65(T),0.0(B),-0.43(N),-0.9581(T),,chr17,9792768,9792768,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp470Asn/c.1408G>A|553|GLP2R|protein_coding|CODING|NM_004246.1|13|1),"HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.0879,0.1571,0.2773,0.23,0.07,0.31,,0.074649(N),1.000(P),0.61(T),0.0000(T),0.008,0.853055,5.43,1.83,-0.269000,-0.146000,0.930000,0.051000,0.969000,1.000000,5.4283
synonymous_variant,GLP2R,SILENT,NM_004246.1:p.His504His/c.1512T>C,caT/caC,LOW,COSM437895(2),0.100639,0.002,rs17681708,,,,,,chr17,9792872,9792872,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His504His/c.1512T>C|553|GLP2R|protein_coding|CODING|NM_004246.1|13|1),"HSMM:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.0879,0.1585,0.2763,0.23,0.07,0.31,,,,,,,,,,,,,,,,
synonymous_variant,MYH13,SILENT,NM_003802.2:p.Asn700Asn/c.2100C>T,aaC/aaT,LOW,COSM435971(1),0.428514,0.3968,rs2240579,,,,,,chr17,10236465,10236465,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn700Asn/c.2100C>T|1938|MYH13|protein_coding|CODING|NM_003802.2|19|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.407,0.5836,0.6362,0.56,0.34,0.66,,,,,,,,,,,,,,,,
synonymous_variant,MYH13,SILENT,NM_003802.2:p.Asn604Asn/c.1812C>T,aaC/aaT,LOW,,0.0970447,0,rs12938754,,,,,,chr17,10247199,10247199,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn604Asn/c.1812C>T|1938|MYH13|protein_coding|CODING|NM_003802.2|16|1),HeLa-S3:H3K27me3,,,,0.0481,0.1527,0.3062,0.21,0.06,0.29,,,,,,,,,,,,,,,,
synonymous_variant,MYH8,SILENT,NM_002472.2:p.Asp1736Asp/c.5208C>T,gaC/gaT,LOW,,0.0954473,0.002,rs33969260,,,,,,chr17,10296486,10296486,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1736Asp/c.5208C>T|1937|MYH8|protein_coding|CODING|NM_002472.2|36|1),intron_variant(MODIFIER|||n.76+9962G>A||MYHAS||NON_CODING|NR_125367.1|1|1)","GM12878:H3K27me3,HepG2:H3K27me3",,RCV000117693.1,,0.0573,0.1383,0.2942,0.18,0.05,0.24,,,,,,,,,,,,,,,,
missense_variant,MYH8,MISSENSE,NM_002472.2:p.Trp1692Arg/c.5074T>C,Tgg/Cgg,MODERATE,COSM3765969(3),0.485423,0.124,rs8069834,1(T),0.0(B),-3.88(N),-0.8923(T),,chr17,10297658,10297658,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1692Arg/c.5074T>C|1937|MYH8|protein_coding|CODING|NM_002472.2|35|1),intron_variant(MODIFIER|||n.76+11134A>G||MYHAS||NON_CODING|NR_125367.1|1|1)",HeLa-S3:H3K27me3,,RCV000117692.1,,0.3364,0.4856,0.6322,0.63,0.72,0.58,,0.002002(N),1.000(P),-0.82(T),0.0000(T),0.076,-0.454810,5.06,1.84,-0.128000,0.017000,0.948000,0.990000,0.998000,0.997000,8.832
synonymous_variant,MYH8,SILENT,NM_002472.2:p.Ile1090Ile/c.3270C>T,atC/atT,LOW,COSM3765970(2),0.473642,0.124,rs3744552,,,,,,chr17,10304261,10304261,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile1090Ile/c.3270C>T|1937|MYH8|protein_coding|CODING|NM_002472.2|26|1),intron_variant(MODIFIER|||n.77-5204G>A||MYHAS||NON_CODING|NR_125367.1|1|1)",HepG2:H3K27me3,,RCV000117688.1,,0.3231,0.4841,0.6272,0.62,0.69,0.58,,,,,,,,,,,,,,,,
synonymous_variant,MYH8,SILENT,NM_002472.2:p.Gly1039Gly/c.3117G>A,ggG/ggA,LOW,COSM3999995(1),0.0505192,0.0288,rs3744553,,,,,,chr17,10304500,10304500,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1039Gly/c.3117G>A|1937|MYH8|protein_coding|CODING|NM_002472.2|25|1),intron_variant(MODIFIER|||n.77-4965C>T||MYHAS||NON_CODING|NR_125367.1|1|1)",HepG2:H3K27me3,,RCV000117687.1,,0.1319,0.0346,0.0547,0.05,0.02,0.06,,,,,,,,,,,,,,,,
synonymous_variant,MYH8,SILENT,NM_002472.2:p.Phe672Phe/c.2016C>T,ttC/ttT,LOW,COSM3999996(1),0.0559105,0.0308,rs12936716,,,,,,chr17,10310246,10310246,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe672Phe/c.2016C>T|1937|MYH8|protein_coding|CODING|NM_002472.2|18|1),intron_variant(MODIFIER|||n.167+691G>A||MYHAS||NON_CODING|NR_125367.1|2|1)",,,RCV000117686.1,,0.1237,0.0346,0.0517,0.06,0.04,0.06,,,,,,,,,,,,,,,,
missense_variant,MYH8,MISSENSE,NM_002472.2:p.Ala636Val/c.1907C>T,gCg/gTg,MODERATE,,0.0597045,0.0427,rs34693726,0.02(D),0.003(B),1.195(L),-0.9071(T),,chr17,10312472,10312472,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala636Val/c.1907C>T|1937|MYH8|protein_coding|CODING|NM_002472.2|17|1),intron_variant(MODIFIER|||n.167+2917G>A||MYHAS||NON_CODING|NR_125367.1|2|1)",HepG2:H3K27me3,,RCV000117685.1,,0.1268,0.0375,0.0517,0.06,0.05,0.06,,0.511511(U),0.787(N),-0.65(T),0.0426(T),0.107,1.054554,5.23,5.23,0.655000,2.736000,0.660000,0.006000,0.876000,0.018000,13.1246
synonymous_variant,MYH8,SILENT,NM_002472.2:p.Thr238Thr/c.714T>C,acT/acC,LOW,,0.86242,0.998,rs8068729,,,,,,chr17,10318636,10318636,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr238Thr/c.714T>C|1937|MYH8|protein_coding|CODING|NM_002472.2|8|1),intron_variant(MODIFIER|||n.167+9081A>G||MYHAS||NON_CODING|NR_125367.1|2|1)","HepG2:H3K27me3,H1ESC:CTCF",,RCV000117694.1,,0.9274,0.9207,0.9414,0.86,0.68,0.95,,,,,,,,,,,,,,,,
missense_variant,MYH4,MISSENSE,NM_017533.2:p.Lys1911Glu/c.5731A>G,Aag/Gag,MODERATE,,0.533147,0.8631,rs3744554,1(T),0.0(B),-2.63(N),-0.9311(T),,chr17,10346781,10346781,T,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1911Glu/c.5731A>G|1939|MYH4|protein_coding|CODING|NM_017533.2|40|1),intron_variant(MODIFIER|||n.167+37226T>C||MYHAS||NON_CODING|NR_125367.1|2|1)","HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.637,0.5245,0.3698,0.40,0.35,0.42,,0.002785(N),1.000(P),-1.67(D),0.0000(T),0.041,-0.304632,5.19,4.23,-0.119000,0.912000,1.988000,0.594000,0.884000,0.929000,12.1163
missense_variant,MYH4,MISSENSE,NM_017533.2:p.Arg1716Cys/c.5146C>T,Cgt/Tgt,MODERATE,,0.000199681,0,rs201824445,0.02(D),0.625(P),3.69(H),0.6742(D),,chr17,10350353,10350353,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1716Cys/c.5146C>T|1939|MYH4|protein_coding|CODING|NM_017533.2|35|1),intron_variant(MODIFIER|||n.167+40798G>A||MYHAS||NON_CODING|NR_125367.1|2|1)",HepG2:H3K27ac,,,,0,0,0,0.00,0.00,0.00,,0.004801(U),1.000(D),-1.67(D),0.7123(D),0.874,3.949087,5.29,4.26,0.563000,2.646000,0.355000,0.994000,1.000000,0.913000,15.8351
missense_variant,MYH4,MISSENSE,NM_017533.2:p.Glu1209Lys/c.3625G>A,Gag/Aag,MODERATE,COSM3765971(1),0.507987,0.8631,rs11651295,0(D),0.911(D),3.59(H),-0.9028(T),,chr17,10355371,10355371,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1209Lys/c.3625G>A|1939|MYH4|protein_coding|CODING|NM_017533.2|27|1),intron_variant(MODIFIER|||n.167+45816C>T||MYHAS||NON_CODING|NR_125367.1|2|1)",HepG2:H3K27me3,,,,0.6176,0.4841,0.334,0.35,0.32,0.36,,0.002023(U),0.000(P),-1.38(T),0.0000(T),0.329,5.299995,5.51,5.51,0.655000,2.745000,7.722000,0.879000,1.000000,1.000000,19.7768
missense_variant,MYH4,MISSENSE,NM_017533.2:p.Ile1106Met/c.3318A>G,atA/atG,MODERATE,COSM3765972(1),0.533946,0.8631,rs917361,0.22(T),0.003(B),-0.425(N),-0.9637(T),,chr17,10355763,10355763,T,C,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile1106Met/c.3318A>G|1939|MYH4|protein_coding|CODING|NM_017533.2|26|1),intron_variant(MODIFIER|||n.167+46208T>C||MYHAS||NON_CODING|NR_125367.1|2|1)",HepG2:H3K27me3,,,,0.6309,0.5187,0.3698,0.40,0.36,0.42,,0.000374(N),1.000(P),-1.67(D),0.0000(T),0.037,0.572480,5.6,4.63,-0.119000,0.854000,-0.314000,0.963000,0.998000,0.004000,4.1163
missense_variant,MYH4,MISSENSE,NM_017533.2:p.Ala594Thr/c.1780G>A,Gcc/Acc,MODERATE,COSM3999997(1),0.057508,0.0308,rs12949680,1(T),0.001(B),-1.705(N),-0.9027(T),,chr17,10360854,10360854,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala594Thr/c.1780G>A|1939|MYH4|protein_coding|CODING|NM_017533.2|16|1),intron_variant(MODIFIER|||n.167+51299C>T||MYHAS||NON_CODING|NR_125367.1|2|1)",HepG2:H3K27me3,,,,0.1309,0.0346,0.0517,0.06,0.04,0.06,,0.883241(U),1.000(N),-2.12(D),0.0266(T),0.031,-1.979767,5.01,-1.26,-0.291000,-0.060000,-0.206000,0.009000,0.002000,0.000000,5.3299
synonymous_variant,MYH4,SILENT,NM_017533.2:p.Asn425Asn/c.1275T>C,aaT/aaC,LOW,COSM3765974(1),0.535543,0.8601,rs3744561,,,,,,chr17,10363410,10363410,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn425Asn/c.1275T>C|1939|MYH4|protein_coding|CODING|NM_017533.2|14|1),intron_variant(MODIFIER|||n.167+53855A>G||MYHAS||NON_CODING|NR_125367.1|2|1)","HepG2:FOXA1,HepG2:H3K27me3",,,,0.637,0.5245,0.3708,0.40,0.36,0.42,,,,,,,,,,,,,,,,
missense_variant,MYH4,MISSENSE,NM_017533.2:p.Gln329Arg/c.986A>G,cAg/cGg,MODERATE,,0.0151757,0.001,rs35984286,0.13(T),0.004(B),-0.02(N),-0.8422(T),,chr17,10366204,10366204,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln329Arg/c.986A>G|1939|MYH4|protein_coding|CODING|NM_017533.2|11|1),intron_variant(MODIFIER|||n.167+56649T>C||MYHAS||NON_CODING|NR_125367.1|2|1)",,,,,0.0061,0.0231,0.0497,0.03,0.01,0.04,,0.002987(U),1.000(N),-2.23(D),0.0961(T),0.087,1.604097,5.37,5.37,0.528000,2.153000,0.064000,0.976000,0.998000,0.000000,11.6349
synonymous_variant,MYH1,SILENT,NM_005963.3:p.Phe344Phe/c.1032T>C,ttT/ttC,LOW,,0.88139,0.998,rs2007027,,,,,,chr17,10415840,10415840,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe344Phe/c.1032T>C|1939|MYH1|protein_coding|CODING|NM_005963.3|12|1),intron_variant(MODIFIER|||n.168-55014A>G||MYHAS||NON_CODING|NR_125367.1|2|1)",,,,,0.9274,0.9352,0.9453,0.88,0.74,0.95,,,,,,,,,,,,,,,,
synonymous_variant,MYH2,SILENT,NM_001100112.1:p.Ala1678Ala/c.5034C>T,gcC/gcT,LOW,COSM3765976(1),0.31889,0.7302,rs1042236,,,,,,chr17,10427924,10427924,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1678Ala/c.5034C>T|1941|MYH2|protein_coding|CODING|NM_001100112.1|35|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1678Ala/c.5034C>T|1941|MYH2|protein_coding|CODING|NM_017534.5|35|1),intron_variant(MODIFIER|||n.168-42930G>A||MYHAS||NON_CODING|NR_125367.1|2|1)",HepG2:H3K27me3,,,,0.3344,0.3602,0.1541,0.14,0.11,0.16,,,,,,,,,,,,,,,,
synonymous_variant,MYH2,SILENT,NM_001100112.1:p.Pro133Pro/c.399T>A,ccT/ccA,LOW,,0.516773,0.8333,rs11078850,,,,,,chr17,10448769,10448769,A,T,hom,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro133Pro/c.399T>A|1941|MYH2|protein_coding|CODING|NM_001100112.1|5|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro133Pro/c.399T>A|1941|MYH2|protein_coding|CODING|NM_017534.5|5|1),intron_variant(MODIFIER|||n.168-22085A>T||MYHAS||NON_CODING|NR_125367.1|2|1)",HepG2:H3K27me3,,,,0.6186,0.5144,0.3847,0.38,0.33,0.41,,,,,,,,,,,,,,,,
synonymous_variant,MYH2,SILENT,NM_001100112.1:p.Glu108Glu/c.324A>G,gaA/gaG,LOW,COSM3765977(1),0.54353,0.8492,rs12600539,,,,,,chr17,10450816,10450816,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu108Glu/c.324A>G|1941|MYH2|protein_coding|CODING|NM_001100112.1|4|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu108Glu/c.324A>G|1941|MYH2|protein_coding|CODING|NM_017534.5|4|1),intron_variant(MODIFIER|||n.168-20038T>C||MYHAS||NON_CODING|NR_125367.1|2|1)","HSMM:DNase1,K562:Cjun,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6217,0.5216,0.3917,0.41,0.40,0.41,,,,,,,,,,,,,,,,
synonymous_variant,MYH3,SILENT,NM_002470.3:p.Ile1577Ile/c.4731C>T,atC/atT,LOW,COSM4000000(1),0.469649,0.3849,rs2285479,,,,,,chr17,10536018,10536018,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile1577Ile/c.4731C>T|1940|MYH3|protein_coding|CODING|NM_002470.3|34|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000117675.1,,0.5102,0.5346,0.7584,0.58,0.30,0.73,,,,,,,,,,,,,,,,
missense_variant,MYH3,MISSENSE,NM_002470.3:p.Ala1192Thr/c.3574G>A,Gcg/Acg,MODERATE,COSM4000001(1),0.586462,0.3929,rs2285477,0.68(T),0.02(B),0.76(N),-0.9687(T),,chr17,10541515,10541515,C,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala1192Thr/c.3574G>A|1940|MYH3|protein_coding|CODING|NM_002470.3|27|1),"NHEK:H3K36me3,HepG2:H3K36me3",,RCV000117670.1,,0.6053,0.6023,0.8161,0.72,0.57,0.79,,,1.000(P),-1.1(T),0.0000(T),0.031,1.676116,5.45,-2.15,-0.360000,-0.722000,-0.429000,0.961000,0.313000,0.000000,7.8259
synonymous_variant,MYH3,SILENT,NM_002470.3:p.Ile1116Ile/c.3348T>C,atT/atC,LOW,COSM1749857(3),0.260982,0.5923,rs201626,,,,,,chr17,10541741,10541741,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1116Ile/c.3348T>C|1940|MYH3|protein_coding|CODING|NM_002470.3|27|1),"CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000117669.1,,0.2474,0.2853,0.0815,0.10,0.13,0.09,,,,,,,,,,,,,,,,
synonymous_variant,MYH3,SILENT,NM_002470.3:p.Arg1046Arg/c.3138A>C,cgA/cgC,LOW,COSM4000003(1),0.466454,0.3839,rs2285475,,,,,,chr17,10542471,10542471,T,G,het,synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg1046Arg/c.3138A>C|1940|MYH3|protein_coding|CODING|NM_002470.3|25|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117668.1,,0.5092,0.5346,0.7584,0.58,0.30,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MYH3,SILENT,NM_002470.3:p.Ser984Ser/c.2952T>C,tcT/tcC,LOW,COSM4000004(1),0.466454,0.3839,rs2285474,,,,,,chr17,10542765,10542765,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser984Ser/c.2952T>C|1940|MYH3|protein_coding|CODING|NM_002470.3|24|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117665.1,,0.5092,0.5346,0.7584,0.58,0.30,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MYH3,SILENT,NM_002470.3:p.Thr972Thr/c.2916A>G,acA/acG,LOW,COSM4000005(1),0.466254,0.3839,rs2285472,,,,,,chr17,10542886,10542886,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr972Thr/c.2916A>G|1940|MYH3|protein_coding|CODING|NM_002470.3|23|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117664.1,,0.5092,0.5346,0.7575,0.58,0.30,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MYH3,SILENT,NM_002470.3:p.Ala844Ala/c.2532A>G,gcA/gcG,LOW,COSM4000006(1),0.466454,0.3839,rs2285469,,,,,,chr17,10543463,10543463,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala844Ala/c.2532A>G|1940|MYH3|protein_coding|CODING|NM_002470.3|22|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000117662.1,,0.5092,0.5346,0.7584,0.58,0.30,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MYH3,SILENT,NM_002470.3:p.Gly717Gly/c.2151C>A,ggC/ggA,LOW,COSM4000007(1),,,rs876657,,,,,,chr17,10544416,10544416,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly717Gly/c.2151C>A|1940|MYH3|protein_coding|CODING|NM_002470.3|19|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000117661.1,,,,,0.58,0.29,0.73,,,,,,,,,,,,,,,,
missense_variant,DNAH9,MISSENSE,NM_001372.3:p.Gln445Arg/c.1334A>G,cAa/cGa,MODERATE,,0.990216,1,rs9892256,1(T),0.0(B),-2.61(N),-0.9658(T),,chr17,11523082,11523082,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln445Arg/c.1334A>G|4486|DNAH9|protein_coding|CODING|NM_001372.3|6|1),,,,,1,0.9971,0.999,0.99,0.98,1.00,,0.001794(N),0.966(P),"1.22,1.22(T,T)",0.0000(T),0.031,-1.798617,5.98,4.0,-0.930000,0.446000,3.773000,0.046000,0.010000,0.915000,9.6892
synonymous_variant,DNAH9,SILENT,NM_001372.3:p.Asp1123Asp/c.3369T>C,gaT/gaC,LOW,COSM4000011(1),0.947883,0.9147,rs8071438,,,,,,chr17,11583089,11583089,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1123Asp/c.3369T>C|4486|DNAH9|protein_coding|CODING|NM_001372.3|18|1),HepG2:H3K27me3,,,,0.9622,0.9654,0.9891,0.97,0.93,0.99,,,,,,,,,,,,,,,,
synonymous_variant,DNAH9,SILENT,NM_001372.3:p.Asn2110Asn/c.6330C>T,aaC/aaT,LOW,COSM3765980(1),0.770168,0.9345,rs3744578,,,,,,chr17,11648332,11648332,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn2110Asn/c.6330C>T|4486|DNAH9|protein_coding|CODING|NM_001372.3|31|1),HeLa-S3:H3K27me3,,,,0.8119,0.8386,0.7932,0.74,0.61,0.80,,,,,,,,,,,,,,,,
missense_variant,DNAH9,MISSENSE,NM_001372.3:p.Met4374Ile/c.13122G>A,atG/atA,MODERATE,COSM3755258(1),0.160144,0.1815,rs1990236,0.04(D),0.35(B),1.265(L),-0.9115(T),,chr17,11865462,11865462,G,A,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met4374Ile/c.13122G>A|4486|DNAH9|protein_coding|CODING|NM_001372.3|68|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met686Ile/c.2058G>A|798|DNAH9|protein_coding|CODING|NM_004662.2|14|1)",NHEK:H3K36me3,,,,0.1247,0.2392,0.1948,0.16,0.13,0.18,,0.000000(D),0.000(P),"3.09,3.09,3.09(T,T,T)",0.0000(T),0.176,2.725497,5.04,4.05,0.655000,2.618000,6.366000,0.996000,1.000000,1.000000,13.8943
synonymous_variant,ELAC2,SILENT,NM_018127.6:p.Thr631Thr/c.1893A>G,acA/acG,LOW,COSM3765984(1),0.0503195,0.001,rs17552022,,,,,,chr17,12898295,12898295,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr591Thr/c.1773A>G|786|ELAC2|protein_coding|CODING|NM_001165962.1|19|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr631Thr/c.1893A>G|826|ELAC2|protein_coding|CODING|NM_018127.6|20|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr630Thr/c.1890A>G|825|ELAC2|protein_coding|CODING|NM_173717.1|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0695,0.0793,0.1203,0.09,0.02,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ELAC2,SILENT,NM_018127.6:p.Thr520Thr/c.1560A>G,acA/acG,LOW,,0.207268,0.0347,rs11545302,,,,,,chr17,12899963,12899963,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr480Thr/c.1440A>G|786|ELAC2|protein_coding|CODING|NM_001165962.1|16|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr520Thr/c.1560A>G|826|ELAC2|protein_coding|CODING|NM_018127.6|17|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr519Thr/c.1557A>G|825|ELAC2|protein_coding|CODING|NM_173717.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2526,0.2406,0.3151,0.27,0.22,0.30,,,,,,,,,,,,,,,,
missense_variant,ELAC2,MISSENSE,NM_018127.6:p.Ser217Leu/c.650C>T,tCg/tTg,MODERATE,COSM3765986(1),0.214457,0.0347,rs4792311,0.63(T),"0.015,0.075,0.107,0.023(B,B,B,B)",1.995(M),-0.9997(T),,chr17,12915009,12915009,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser217Leu/c.650C>T|826|ELAC2|protein_coding|CODING|NM_018127.6|7|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser217Leu/c.650C>T|825|ELAC2|protein_coding|CODING|NM_173717.1|7|1),intron_variant(MODIFIER|||c.560-1021C>T|786|ELAC2|protein_coding|CODING|NM_001165962.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000005358.1,,0.2495,0.245,0.3151,0.28,0.23,0.30,,0.066197(N),1.000(P),"-0.16,-0.18(T,T)",0.0000(T),0.373,1.146016,4.2,3.23,-0.148000,1.372000,3.696000,0.003000,0.002000,0.065000,8.0532
synonymous_variant,HS3ST3A1,SILENT,NM_006042.1:p.Pro373Pro/c.1119T>A,ccT/ccA,LOW,COSM3818852(3),0.417532,0.5585,rs62057033,,,,,,chr17,13399616,13399616,A,T,hom,synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro373Pro/c.1119T>A|406|HS3ST3A1|protein_coding|CODING|NM_006042.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.5951,0.5144,0.3459,,,,,,,,,,,,,,,,,,,
missense_variant,COX10,MISSENSE,NM_001303.3:p.Arg159Gln/c.476G>A,cGa/cAa,MODERATE,,0.463858,0.375,rs2072279,0.01(D),0.025(B),2.33(M),-0.9323(T),,chr17,13980350,13980350,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg159Gln/c.476G>A|443|COX10|protein_coding|CODING|NM_001303.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4888,0.536,0.506,0.49,0.44,0.52,,,0.000(P),-0.58(T),0.0000(T),0.136,3.226566,5.49,5.49,0.655000,2.741000,7.163000,0.996000,0.605000,1.000000,17.9318
synonymous_variant,COX10,SILENT,NM_001303.3:p.Leu168Leu/c.504G>A,ctG/ctA,LOW,COSM4000019(2),0.491813,0.3462,rs2159132,,,,,,chr17,14005439,14005439,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu168Leu/c.504G>A|443|COX10|protein_coding|CODING|NM_001303.3|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.4813,0.5855,0.56,0.51,0.58,,,,,,,,,,,,,,,,
synonymous_variant,COX10,SILENT,NM_001303.3:p.Pro233Pro/c.699A>G,ccA/ccG,LOW,COSM3765989(1),0.548323,0.619,rs2230354,,,,,,chr17,14095309,14095309,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro233Pro/c.699A>G|443|COX10|protein_coding|CODING|NM_001303.3|6|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6033,0.562,0.5616,0.55,0.48,0.59,,,,,,,,,,,,,,,,
missense_variant,CDRT15,MISSENSE,NM_001007530.1:p.Leu87Arg/c.260T>G,cTt/cGt,MODERATE,COSM4129580(1),0.96905,0.9405,rs62052131,0.35(T),0.0(B),0(N),-0.9936(T),,chr17,14139891,14139891,A,C,hom,"missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu87Arg/c.260T>G|188|CDRT15|protein_coding|CODING|NM_001007530.1|1|1),splice_region_variant(LOW|||c.260T>G|188|CDRT15|protein_coding|CODING|NM_001007530.1|1|1)",NHEK:H3K36me3,,,,0.9969,0.9352,1,,,,,,1.000(P),0.81(T),0.0000(T),0.196,-2.743356,0.128,0.128,-1.750000,-1.637000,-4.004000,0.036000,0.035000,0.005000,.
synonymous_variant,CDRT15,SILENT,NM_001007530.1:p.Asn16Asn/c.48T>C,aaT/aaC,LOW,COSM4129582(1),0.991014,1,rs4792453,,,,,,chr17,14140103,14140103,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn16Asn/c.48T>C|188|CDRT15|protein_coding|CODING|NM_001007530.1|1|1),,,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TEKT3,SILENT,NM_031898.2:p.Thr454Thr/c.1362A>C,acA/acC,LOW,COSM3765991(1),0.786741,0.7232,rs13961,,,,,,chr17,15207364,15207364,T,G,hom,synonymous_variant(LOW|SILENT|acA/acC|p.Thr454Thr/c.1362A>C|490|TEKT3|protein_coding|CODING|NM_031898.2|9|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8108,0.7536,0.7684,0.79,0.84,0.76,,,,,,,,,,,,,,,,
missense_variant,TEKT3,MISSENSE,NM_031898.2:p.Gly282Ala/c.845G>C,gGc/gCc,MODERATE,COSM3755269(2),0.427516,0.4732,rs230898,0.61(T),0.004(B),0.65(N),-0.9382(T),,chr17,15217437,15217437,C,G,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly282Ala/c.845G>C|490|TEKT3|protein_coding|CODING|NM_031898.2|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5491,0.3919,0.4652,0.43,0.33,0.48,,0.000015(D),0.128(P),"4.34,4.34,4.34(T,T,T)",0.0000(T),0.336,1.832668,5.43,5.43,0.655000,2.549000,5.786000,0.095000,1.000000,1.000000,14.451
synonymous_variant,ZNF286A,SILENT,NM_001288642.1:p.Leu524Leu/c.1572C>T,ctC/ctT,LOW,COSM148198(5),0.322085,0.25,rs2530064,,,,,,chr17,15620481,15620481,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu369Leu/c.1107C>T|409|ZNF286A|protein_coding|CODING|NM_001288645.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu369Leu/c.1107C>T|409|ZNF286A|protein_coding|CODING|NM_001288646.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu369Leu/c.1107C>T|409|ZNF286A|protein_coding|CODING|NM_001288647.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu369Leu/c.1107C>T|409|ZNF286A|protein_coding|CODING|NM_001288648.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu369Leu/c.1107C>T|409|ZNF286A|protein_coding|CODING|NM_001288649.1|4|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu481Leu/c.1443C>T|521|ZNF286A|protein_coding|CODING|NM_001130842.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu524Leu/c.1572C>T|564|ZNF286A|protein_coding|CODING|NM_001288642.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu471Leu/c.1413C>T|511|ZNF286A|protein_coding|CODING|NM_001288643.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu450Leu/c.1350C>T|490|ZNF286A|protein_coding|CODING|NM_001288644.1|4|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu481Leu/c.1443C>T|521|ZNF286A|protein_coding|CODING|NM_020652.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.3742,0.3473,0.327,,,,,,,,,,,,,,,,,,,
missense_variant,TBC1D26,MISSENSE,NM_178571.4:p.Ala206Val/c.617C>T,gCt/gTt,MODERATE,COSM3755280(1),0.246605,0.255,rs11650318,,,,,,chr17,15644506,15644506,C,T,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala206Val/c.617C>T|250|TBC1D26|protein_coding|CODING|NM_178571.4|10|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2955,0.2651,0.3946,0.31,0.13,0.40,,,,,,,,,,,,,,,,
missense_variant,TBC1D26,MISSENSE,NM_178571.4:p.Gly234Ser/c.700G>A,Ggc/Agc,MODERATE,COSM3755281(3),0.246206,0.254,rs17855672,,,,,,chr17,15645289,15645289,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly234Ser/c.700G>A|250|TBC1D26|protein_coding|CODING|NM_178571.4|11|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2955,0.2651,0.3946,0.31,0.13,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TRPV2,SILENT,NM_016113.4:p.Gly130Gly/c.390A>G,ggA/ggG,LOW,COSM148201(4),0.391374,0.2321,rs8121,,,,-0.9182(T),,chr17,16325968,16325968,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly130Gly/c.390A>G|764|TRPV2|protein_coding|CODING|NM_016113.4|4|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2198,0.3818,0.3877,0.46,0.59,0.39,,,0.000(P),,0.0000(T),.,-0.784796,5.24,-5.94,-0.812000,-1.326000,-1.548000,0.089000,0.029000,0.000000,0.4381
synonymous_variant,TRPV2,SILENT,NM_016113.4:p.Arg143Arg/c.427A>C,Agg/Cgg,LOW,COSM3755285(2),0.371605,0.2302,rs1129235,,,,-0.9722(T),,chr17,16326005,16326005,A,C,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg143Arg/c.427A>C|764|TRPV2|protein_coding|CODING|NM_016113.4|4|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2055,0.366,0.3867,0.44,0.54,0.39,,,0.980(P),,0.0000(T),.,0.977622,5.24,-2.87,-0.121000,-0.859000,-0.477000,0.899000,0.005000,0.001000,14.0002
synonymous_variant,TRPV2,SILENT,NM_016113.4:p.Pro698Pro/c.2094C>G,ccC/ccG,LOW,COSM148202(4),0.288139,0.2232,rs14039,,,,,,chr17,16336992,16336992,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro698Pro/c.2094C>G|764|TRPV2|protein_coding|CODING|NM_016113.4|13|1),"K562:PolII,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,GM06990:H3K36me3",,,,0.2137,0.3401,0.3579,0.36,0.33,0.38,,,,,,,,,,,,,,,,
synonymous_variant,LRRC75A,SILENT,NM_001113567.2:p.Gly335Gly/c.1005C>A,ggC/ggA,LOW,COSM3755286(2),0.273962,0.2212,rs4792745,,,,,,chr17,16346932,16346932,G,T,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly335Gly/c.1005C>A|344|LRRC75A|protein_coding|CODING|NM_001113567.2|4|1),3_prime_UTR_variant(MODIFIER||250|c.*250C>A|212|LRRC75A|protein_coding|CODING|NM_207387.3|3|1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027158.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027159.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027160.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027161.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027162.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027163.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027164.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027165.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027166.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027167.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027168.2||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027169.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027170.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_027667.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_045021.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_045022.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_045027.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_045028.1||1),downstream_gene_variant(MODIFIER||1592|||LRRC75A-AS1||NON_CODING|NR_045029.1||1),intron_variant(MODIFIER|||n.231+3365G>T||LRRC75A-AS1||NON_CODING|NR_027176.1|3|1),intron_variant(MODIFIER|||n.231+3365G>T||LRRC75A-AS1||NON_CODING|NR_045023.1|3|1),intron_variant(MODIFIER|||n.288+2488G>T||LRRC75A-AS1||NON_CODING|NR_027173.1|4|1),intron_variant(MODIFIER|||n.288+2488G>T||LRRC75A-AS1||NON_CODING|NR_027174.1|4|1),intron_variant(MODIFIER|||n.288+2488G>T||LRRC75A-AS1||NON_CODING|NR_027177.1|4|1),intron_variant(MODIFIER|||n.288+2488G>T||LRRC75A-AS1||NON_CODING|NR_027178.1|4|1),intron_variant(MODIFIER|||n.554+2488G>T||LRRC75A-AS1||NON_CODING|NR_027171.1|3|1),intron_variant(MODIFIER|||n.257+2488G>T||LRRC75A-AS1||NON_CODING|NR_027172.2|4|1),intron_variant(MODIFIER|||n.288+2488G>T||LRRC75A-AS1||NON_CODING|NR_027175.1|4|1),intron_variant(MODIFIER|||n.200+2488G>T||LRRC75A-AS1||NON_CODING|NR_045025.1|3|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,K562:HEY1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1",,,,0.2117,0.3343,0.3569,0.35,0.29,0.37,,,,,,,,,,,,,,,,
synonymous_variant,TNFRSF13B,SILENT,NM_012452.2:p.Ser277Ser/c.831T>C,agT/agC,LOW,COSM3766008(2),0.595248,0.7976,rs11078355,,,,,,chr17,16842912,16842912,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser277Ser/c.831T>C|293|TNFRSF13B|protein_coding|CODING|NM_012452.2|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6166,0.5706,0.3718,0.48,0.61,0.41,,,,,,,,,,,,,,,,
missense_variant,TNFRSF13B,MISSENSE,NM_012452.2:p.Pro251Leu/c.752C>T,cCc/cTc,MODERATE,,0.190695,0.4236,rs34562254,1(T),"0.476,0.284(P,B)",1.15(L),-0.9153(T),,chr17,16842991,16842991,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro251Leu/c.752C>T|293|TNFRSF13B|protein_coding|CODING|NM_012452.2|5|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1575,0.1182,0.1064,0.12,0.13,0.11,,0.342023(N),1.000(P),"-3.03,-3.08(D,D)",0.0000(T),0.203,0.354776,3.12,0.879,0.448000,0.505000,-0.051000,0.013000,0.003000,0.001000,2.8954
synonymous_variant,TNFRSF13B,SILENT,NM_012452.2:p.Thr27Thr/c.81G>A,acG/acA,LOW,,0.899561,0.999,rs8072293,,,,,,chr17,16855878,16855878,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr27Thr/c.81G>A|293|TNFRSF13B|protein_coding|CODING|NM_012452.2|2|1),"GM12878:H3K36me3,GM12878:H3K79me2,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000030561.1,,0.8773,0.8112,0.7734,0.81,0.95,0.74,,,,,,,,,,,,,,,,
missense_variant,MPRIP,MISSENSE,NM_015134.3:p.Pro327Gln/c.980C>A,cCa/cAa,MODERATE,COSM3766012(2),0.444688,0.7113,rs3744137,0.25(T),"0.011,0.001(B,B)",0.755(N),-0.9892(T),,chr17,17046024,17046024,C,A,hom,"missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro327Gln/c.980C>A|1038|MPRIP|protein_coding|CODING|NM_015134.3|8|1),missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro327Gln/c.980C>A|1025|MPRIP|protein_coding|CODING|NM_201274.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5511,0.4986,0.5229,0.40,0.14,0.53,,,1.000(P),"1.93,2.18,2.18,2.18(T,T,T,T)",0.0000(T),0.117,-0.067284,5.04,1.63,0.561000,1.113000,0.648000,0.007000,0.001000,0.000000,5.4532
synonymous_variant,MPRIP,SILENT,NM_015134.3:p.Ala657Ala/c.1971C>G,gcC/gcG,LOW,COSM436128(1),0.453075,0.7113,rs11551189,,,,-0.9634(T),,chr17,17062241,17062241,C,G,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala657Ala/c.1971C>G|1038|MPRIP|protein_coding|CODING|NM_015134.3|14|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala657Ala/c.1971C>G|1025|MPRIP|protein_coding|CODING|NM_201274.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.5231,0.5417,0.40,0.14,0.54,,,0.000(P),,0.0000(T),.,-1.025905,5.38,0.988,-2.698000,-0.232000,0.224000,0.019000,0.872000,0.574000,8.5409
synonymous_variant,COPS3,SILENT,NM_003653.3:p.Ile191Ile/c.573C>T,atC/atT,LOW,,0.486222,0.6558,rs3182911,,,,,,chr17,17168164,17168164,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile171Ile/c.513C>T|403|COPS3|protein_coding|CODING|NM_001199125.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile191Ile/c.573C>T|423|COPS3|protein_coding|CODING|NM_003653.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4755,0.5317,0.5119,0.44,0.33,0.50,,,,,,,,,,,,,,,,
synonymous_variant,MED9,SILENT,NM_018019.2:p.Pro81Pro/c.243G>A,ccG/ccA,LOW,COSM3766015(1),0.159944,0.1409,rs1242489,,,,,,chr17,17394611,17394611,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro81Pro/c.243G>A|146|MED9|protein_coding|CODING|NM_018019.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1022,0.2925,0.3211,0.23,0.07,0.30,,,,,,,,,,,,,,,,
missense_variant,PEMT,MISSENSE,NM_148172.2:p.Val212Met/c.634G>A,Gtg/Atg,MODERATE,COSM1128813(2),0.424521,0.1716,rs7946,0.55(T),0.009(B),2.045(M),-0.9711(T),,chr17,17409560,17409560,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val190Met/c.568G>A|214|PEMT|protein_coding|CODING|NM_001267551.1|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser222Asn/c.665G>A|232|PEMT|protein_coding|CODING|NM_001267552.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val175Met/c.523G>A|199|PEMT|protein_coding|CODING|NM_007169.2|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val212Met/c.634G>A|236|PEMT|protein_coding|CODING|NM_148172.2|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val175Met/c.523G>A|199|PEMT|protein_coding|CODING|NM_148173.1|6|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.4427,0.5562,0.7038,0.62,0.41,0.72,,,1.000(P),"1.7,1.74(T,T)",0.0000(T),0.042,-1.024667,4.24,2.16,0.484000,0.380000,-0.047000,0.114000,0.231000,0.001000,5.4807
missense_variant,PEMT,MISSENSE,NM_148172.2:p.Val95Ile/c.283G>A,Gtc/Atc,MODERATE,COSM3755304(1),0.198882,0.0952,rs386619997,0.58(T),"0.002,0.002,0.001(B,B,B)",0.12(N),-0.9265(T),,chr17,17425631,17425631,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val73Ile/c.217G>A|214|PEMT|protein_coding|CODING|NM_001267551.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val95Ile/c.283G>A|232|PEMT|protein_coding|CODING|NM_001267552.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val58Ile/c.172G>A|199|PEMT|protein_coding|CODING|NM_007169.2|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val95Ile/c.283G>A|236|PEMT|protein_coding|CODING|NM_148172.2|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val58Ile/c.172G>A|199|PEMT|protein_coding|CODING|NM_148173.1|3|1)","IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1738,0.2767,0.4513,0.34,0.13,0.45,,0.304729(N),1.000(P),"2.43,2.42,2.42,1.79,1.8(T,T,T,T,T)",0.0000(T),0.042,-0.446896,4.87,-5.06,-0.254000,-0.796000,-0.039000,0.207000,0.000000,0.000000,4.3382
missense_variant,RAI1,MISSENSE,NM_030665.3:p.Gly90Ala/c.269G>C,gGc/gCc,MODERATE,COSM1381228(2),0.666933,0.9167,rs3803763,0.26(T),0.0(B),-1.1(N),-1.0291(T),,chr17,17696531,17696531,G,C,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly90Ala/c.269G>C|1906|RAI1|protein_coding|CODING|NM_030665.3|3|1),"CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,CD4:CTCF,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082261.3,,0.7965,0.5403,0.3509,0.41,0.61,0.31,,0.443899(N),1.000(P),"-0.15,2.58,0.47(T,T,T)",0.0000(T),0.201,-2.186931,4.55,1.06,-0.357000,0.029000,-0.280000,0.238000,0.905000,0.214000,3.3322
missense_variant,RAI1,MISSENSE,NM_030665.3:p.Pro165Thr/c.493C>A,Ccc/Acc,MODERATE,COSM436133(3),0.563698,0.8353,rs11649804,0.09(T),0.997(D),1.935(M),-0.9953(T),,chr17,17696755,17696755,C,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro165Thr/c.493C>A|1906|RAI1|protein_coding|CODING|NM_030665.3|3|1),"CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082272.3,,0.7689,0.5058,0.334,0.34,0.40,0.31,,0.000800(D),0.748(P),"-0.24,2.48,0.35(T,T,T)",0.0000(T),0.175,3.025501,4.55,3.58,0.462000,0.902000,0.679000,0.989000,1.000000,0.775000,11.7853
synonymous_variant,RAI1,SILENT,NM_030665.3:p.Pro664Pro/c.1992G>A,ccG/ccA,LOW,COSM3766017(3),0.39976,0.1617,rs8067439,,,,,,chr17,17698254,17698254,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro664Pro/c.1992G>A|1906|RAI1|protein_coding|CODING|NM_030665.3|3|1),"CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082257.3,,0.2178,0.4395,0.5875,0.60,0.56,0.62,,,,,,,,,,,,,,,,
synonymous_variant,RAI1,SILENT,NM_030665.3:p.Ser1119Ser/c.3357C>T,tcC/tcT,LOW,,,,rs139448147,,,,,,chr17,17699619,17699619,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1119Ser/c.3357C>T|1906|RAI1|protein_coding|CODING|NM_030665.3|3|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082264.1,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,RAI1,SILENT,NM_030665.3:p.Ile1867Ile/c.5601T>C,atT/atC,LOW,COSM3766019(2),0.240615,0.0754,rs3818717,0.17(T),,,-0.9993(T),,chr17,17707105,17707105,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile1867Ile/c.5601T>C|1906|RAI1|protein_coding|CODING|NM_030665.3|4|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082273.3,,0.1656,0.3847,0.5318,0.44,0.19,0.56,,0.011262(N),0.000(P),,0.0000(T),.,1.450792,5.46,-6.98,-0.256000,-1.125000,-1.200000,0.987000,0.900000,0.036000,6.6284
synonymous_variant,LRRC48,SILENT,NM_001130090.1:p.Leu152Leu/c.456C>T,ctC/ctT,LOW,COSM3755309(1),0.581869,0.8641,rs4368210,,,,,,chr17,17896090,17896090,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu152Leu/c.456C>T|523|LRRC48|protein_coding|CODING|NM_001130090.1|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu152Leu/c.456C>T|457|LRRC48|protein_coding|CODING|NM_001130091.1|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu152Leu/c.456C>T|457|LRRC48|protein_coding|CODING|NM_001130092.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu152Leu/c.456C>T|523|LRRC48|protein_coding|CODING|NM_031294.3|6|1)",HepG2:H3K27me3,,,,0.7751,0.5187,0.3748,0.35,0.40,0.33,,,,,,,,,,,,,,,,
missense_variant,LRRC48,MISSENSE,NM_001130090.1:p.Arg191Trp/c.571C>T,Cgg/Tgg,MODERATE,,0.582069,0.8641,rs4584886,0.01(D),"0.964,0.984(D,D)",2.835(M),-1.0568(T),,chr17,17896205,17896205,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg191Trp/c.571C>T|523|LRRC48|protein_coding|CODING|NM_001130090.1|7|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg191Trp/c.571C>T|457|LRRC48|protein_coding|CODING|NM_001130091.1|7|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg191Trp/c.571C>T|457|LRRC48|protein_coding|CODING|NM_001130092.1|6|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg191Trp/c.571C>T|523|LRRC48|protein_coding|CODING|NM_031294.3|6|1)",HepG2:H3K27me3,,,,0.7751,0.5187,0.3748,0.35,0.40,0.33,,0.000091(D),0.000(P),"0.5,0.5,0.5,0.5(T,T,T,T)",0.0000(T),0.585,3.637604,5.22,3.04,0.655000,1.156000,3.333000,0.690000,0.986000,1.000000,12.1487
synonymous_variant,GID4,SILENT,NM_024052.4:p.Gly151Gly/c.453G>A,ggG/ggA,LOW,COSM4129639(1),0.366014,0.0952,rs2955355,,,,,,chr17,17948475,17948475,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly151Gly/c.453G>A|300|GID4|protein_coding|CODING|NM_024052.4|2|1),"HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2219,0.4625,0.6233,0.60,0.46,0.67,,,,,,,,,,,,,,,,
synonymous_variant,DRG2,SILENT,NM_001388.4:p.Ser49Ser/c.147G>A,tcG/tcA,LOW,,0.2498,0.0645,rs2230316,,,,,,chr17,17997209,17997209,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser49Ser/c.147G>A|364|DRG2|protein_coding|CODING|NM_001388.4|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1933,0.3804,0.5358,0.46,0.21,0.59,,,,,,,,,,,,,,,,
missense_variant,MYO15A,MISSENSE,NM_016239.3:p.Ala595Thr/c.1783G>A,Gcc/Acc,MODERATE,COSM1749888(9),0.553514,0.6567,rs2955365,0.05(D),0.186(B),0.695(N),-0.8990(T),,chr17,18023897,18023897,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala595Thr/c.1783G>A|3530|MYO15A|protein_coding|CODING|NM_016239.3|2|1),,,,,0.7597,0.4741,0.3708,0.34,0.43,0.29,,,0.000(P),-2.47(D),0.0000(T),0.101,1.890897,4.63,3.58,0.448000,2.122000,1.488000,0.175000,0.973000,0.906000,12.164
synonymous_variant,MYO15A,SILENT,NM_016239.3:p.Pro633Pro/c.1899A>G,ccA/ccG,LOW,COSM3755311(8),0.565895,0.6567,rs2955366,,,,,,chr17,18024013,18024013,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro633Pro/c.1899A>G|3530|MYO15A|protein_coding|CODING|NM_016239.3|2|1),H1ESC:DNase1,,,,0.7597,0.4769,0.3708,0.30,0.41,0.26,,,,,,,,,,,,,,,,
missense_variant,MYO15A,MISSENSE,NM_016239.3:p.Trp718Gly/c.2152T>G,Tgg/Ggg,MODERATE,COSM4129640(1),0.496006,0.6567,rs2955367,0.2(T),0.161(B),0.805(L),-0.8900(T),,chr17,18024266,18024266,T,G,het,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp718Gly/c.2152T>G|3530|MYO15A|protein_coding|CODING|NM_016239.3|2|1),H1ESC:DNase1,,,,0.7607,0.451,0.3668,,,,,,0.000(P),-2.39(D),0.0000(T),0.368,0.888709,4.17,3.0,0.247000,1.516000,0.549000,0.089000,0.967000,0.538000,3.0044
synonymous_variant,MYO15A,SILENT,NM_016239.3:p.Leu1652Leu/c.4954C>T,Ctg/Ttg,LOW,COSM4129643(1),0.478634,0.5933,rs2280777,,,,,,chr17,18041507,18041507,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1652Leu/c.4954C>T|3530|MYO15A|protein_coding|CODING|NM_016239.3|16|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3497,0.5735,0.5209,0.50,0.43,0.54,,,,,,,,,,,,,,,,
missense_variant,MYO15A,MISSENSE,NM_016239.3:p.Cys1977Arg/c.5929T>C,Tgc/Cgc,MODERATE,,0.718051,0.619,rs854777,0.77(T),0.0(B),-1.24(N),-0.9588(T),,chr17,18046898,18046898,T,C,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys1977Arg/c.5929T>C|3530|MYO15A|protein_coding|CODING|NM_016239.3|25|1),"NHEK:H3K27me3,HepG2:H3K27me3",,RCV000038976.1,,0.5194,0.7853,0.7386,0.80,0.87,0.77,,,0.000(P),-2.16(D),0.0000(T),0.018,-1.173196,4.28,1.17,-2.318000,-0.033000,-0.308000,0.003000,0.977000,0.035000,10.4693
synonymous_variant,MYO15A,SILENT,NM_016239.3:p.Phe2395Phe/c.7185T>C,ttT/ttC,LOW,COSM4129645(1),0.989816,1,rs2955379,,,,,,chr17,18052867,18052867,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe2395Phe/c.7185T>C|3530|MYO15A|protein_coding|CODING|NM_016239.3|34|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000038982.1,,1,0.9265,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MYO15A,SILENT,NM_016239.3:p.Gly2619Gly/c.7857G>A,ggG/ggA,LOW,COSM148205(2),0.390775,0.0804,rs386617550,,,,,,chr17,18055229,18055229,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly2619Gly/c.7857G>A|3530|MYO15A|protein_coding|CODING|NM_016239.3|40|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000038985.1,,0.3231,0.4798,0.6004,0.60,0.53,0.63,,,,,,,,,,,,,,,,
missense_variant,MYO15A,MISSENSE,NM_016239.3:p.Tyr2682Phe/c.8045A>T,tAc/tTc,MODERATE,COSM436144(2),0.212859,0.0704,rs712270,0.46(T),0.913(D),1.01(L),-1.0216(T),,chr17,18057167,18057167,A,T,het,missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr2682Phe/c.8045A>T|3530|MYO15A|protein_coding|CODING|NM_016239.3|42|1),"H1ESC:PolII,CD4:H3K9me1,CD4:H2AZ,HUVEC:H3K4me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HepG2:H3K4me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1708,0.2968,0.3907,0.35,0.23,0.41,,,0.000(P),-2.27(D),0.0000(T),0.252,3.311675,5.07,5.07,0.460000,1.915000,5.142000,0.804000,0.513000,1.000000,8.7972
synonymous_variant,MYO15A,SILENT,NM_016239.3:p.Ser2774Ser/c.8322C>T,tcC/tcT,LOW,COSM3755314(2),0.215256,0.0675,rs712272,,,,,,chr17,18058521,18058521,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser2774Ser/c.8322C>T|3530|MYO15A|protein_coding|CODING|NM_016239.3|45|1),HepG2:H3K27me3,,RCV000038991.1,,0.1697,0.2983,0.3907,0.35,0.23,0.41,,,,,,,,,,,,,,,,
synonymous_variant,MYO15A,SILENT,NM_016239.3:p.Tyr3477Tyr/c.10431T>C,taT/taC,LOW,COSM3766020(1),0.721446,0.6319,rs854800,,,,,,chr17,18077175,18077175,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr3477Tyr/c.10431T>C|3530|MYO15A|protein_coding|CODING|NM_016239.3|64|1),HepG2:H3K27me3,,RCV000038967.1,,0.5235,0.7896,0.7366,0.79,0.86,0.76,,,,,,,,,,,,,,,,
missense_variant,LLGL1,MISSENSE,NM_004140.3:p.Ser148Gly/c.442A>G,Agc/Ggc,MODERATE,COSM1563388(3),0.782348,0.6786,rs2290505,0.51(T),0.0(B),0.13(N),-1.0760(T),,chr17,18137141,18137141,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser148Gly/c.442A>G|1064|LLGL1|protein_coding|CODING|NM_004140.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8456,0.7493,0.7614,0.78,0.84,0.75,,0.002589(N),1.000(P),3.49(T),0.0000(T),0.054,-1.867144,5.87,2.63,-0.748000,0.428000,-0.023000,0.033000,0.001000,0.002000,7.0524
missense_variant,MIEF2,MISSENSE,NM_148886.1:p.Arg9Lys/c.26G>A,aGg/aAg,MODERATE,,0.00299521,0,rs117304413,0(D),,,-1.0410(T),,chr17,18164475,18164475,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg9Lys/c.26G>A|465|MIEF2|protein_coding|CODING|NM_148886.1|1|1),splice_region_variant(LOW|||c.26G>A|465|MIEF2|protein_coding|CODING|NM_148886.1|1|1),intron_variant(MODIFIER|||c.-8+424G>A|205|MIEF2|protein_coding|CODING|NM_001144900.1|1|1),intron_variant(MODIFIER|||c.-8+424G>A|454|MIEF2|protein_coding|CODING|NM_139162.3|1|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H4K5ac,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0,0.0014,0.0139,0.01,0.00,0.02,,0.296493(U),1.000(N),2.72(T),0.0183(T),0.086,3.497251,3.46,1.42,0.561000,0.446000,0.874000,0.088000,0.001000,0.051000,4.774
synonymous_variant,MIEF2,SILENT,NM_148886.1:p.Ala275Ala/c.825T>C,gcT/gcC,LOW,COSM3755317(4),0.676917,0.5427,rs2605143,,,,,,chr17,18167505,18167505,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala264Ala/c.792T>C|454|MIEF2|protein_coding|CODING|NM_139162.3|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala275Ala/c.825T>C|465|MIEF2|protein_coding|CODING|NM_148886.1|4|1),3_prime_UTR_variant(MODIFIER||100|c.*100T>C|205|MIEF2|protein_coding|CODING|NM_001144900.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5123,0.696,0.66,0.73,0.84,0.67,,,,,,,,,,,,,,,,
synonymous_variant,TOP3A,SILENT,NM_004618.3:p.Asp509Asp/c.1527C>T,gaC/gaT,LOW,COSM148206(1),0.178914,0.0605,rs2230154,,,,,,chr17,18193941,18193941,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp509Asp/c.1527C>T|1001|TOP3A|protein_coding|CODING|NM_004618.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1493,0.2421,0.3062,0.27,0.20,0.30,,,,,,,,,,,,,,,,
missense_variant,SMCR8,MISSENSE,NM_144775.2:p.Pro524Leu/c.1571C>T,cCc/cTc,MODERATE,COSM3766022(1),0.178514,0.0605,rs386490660,0.56(T),0.997(D),0.975(L),-1.0799(T),,chr17,18220674,18220674,C,T,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro524Leu/c.1571C>T|937|SMCR8|protein_coding|CODING|NM_144775.2|1|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.1483,0.2421,0.3062,0.27,0.21,0.30,,0.000294(D),0.000(P),-0.61(T),0.0000(T),0.483,1.012468,5.91,5.91,0.655000,2.802000,5.311000,0.997000,1.000000,1.000000,20.2983
missense_variant,SMCR8,MISSENSE,NM_144775.2:p.Arg556His/c.1667G>A,cGc/cAc,MODERATE,COSM3766023(1),0.675719,0.5407,rs1563632,1(T),0.0(B),-0.46(N),-0.9625(T),,chr17,18220770,18220770,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg556His/c.1667G>A|937|SMCR8|protein_coding|CODING|NM_144775.2|1|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.5123,0.6916,0.659,0.73,0.85,0.67,,0.038063(N),1.000(P),1.6(T),0.0000(T),0.093,-2.464307,6.03,3.78,-0.254000,0.485000,0.419000,0.014000,0.999000,0.094000,5.2516
synonymous_variant,SMCR8,SILENT,NM_144775.2:p.Tyr677Tyr/c.2031C>T,taC/taT,LOW,COSM1381342(2),0.178714,0.0605,rs1563631,,,,,,chr17,18221134,18221134,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr677Tyr/c.2031C>T|937|SMCR8|protein_coding|CODING|NM_144775.2|1|1),"CD4:H3K9me1,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1483,0.2421,0.3062,0.27,0.21,0.30,,,,,,,,,,,,,,,,
synonymous_variant,SMCR8,SILENT,NM_144775.2:p.Leu869Leu/c.2607G>T,ctG/ctT,LOW,COSM148208(2),0.230032,0.0605,rs4925171,,,,,,chr17,18226177,18226177,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu869Leu/c.2607G>T|937|SMCR8|protein_coding|CODING|NM_144775.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1483,0.2695,0.3082,0.31,0.33,0.30,,,,,,,,,,,,,,,,
missense_variant,SHMT1,MISSENSE,NM_004169.4:p.Leu474Phe/c.1420C>T,Ctc/Ttc,MODERATE,COSM1381346(2),0.227835,0.0605,rs1979277,0.04(D),"0.001,0.058,0.0(B,B,B)",1.355(L),-0.9252(T),,chr17,18232096,18232096,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu336Phe/c.1006C>T|345|SHMT1|protein_coding|CODING|NM_001281786.1|11|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu474Phe/c.1420C>T|483|SHMT1|protein_coding|CODING|NM_004169.4|12|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu435Phe/c.1303C>T|444|SHMT1|protein_coding|CODING|NM_148918.2|11|1),downstream_gene_variant(MODIFIER||726||937|SMCR8|protein_coding|CODING|NM_144775.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1483,0.2695,0.3082,0.31,0.34,0.30,,0.750310(N),1.000(P),"1.56,1.56,1.56,1.56(T,T,T,T)",0.0000(T),0.106,1.239397,5.37,-4.52,-0.211000,-0.245000,0.542000,0.247000,0.006000,0.000000,5.6984
missense_variant,EVPLL,MISSENSE,NM_001145127.1:p.Ser4Asn/c.11G>A,aGc/aAc,MODERATE,COSM3766024(2),0.523363,0.2054,rs570145,1(T),0.0(B),-1.04(N),-0.9746(T),,chr17,18284262,18284262,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser4Asn/c.11G>A|301|EVPLL|protein_coding|CODING|NM_001145127.1|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4458,0.562,0.5785,0.64,0.71,0.61,,,1.000(P),2.46(T),0.0000(T),0.006,0.107031,0.634,0.634,-1.973000,-1.287000,0.422000,0.151000,0.981000,0.179000,4.5811
synonymous_variant,EVPLL,SILENT,NM_001145127.1:p.Pro296Pro/c.888A>G,ccA/ccG,LOW,COSM3766025(2),0.518171,0.2063,rs586322,,,,,,chr17,18291544,18291544,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro296Pro/c.888A>G|301|EVPLL|protein_coding|CODING|NM_001145127.1|10|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.456,0.5519,0.5815,,,,,,,,,,,,,,,,,,,
missense_variant,TRIM16L,MISSENSE,NM_001037330.1:p.Arg42Lys/c.125G>A,aGg/aAg,MODERATE,COSM3766029(3),0.326478,0.2024,rs8075739,0.18(T),"0.047,0.047,0.065,0.047(B,B,B,B)",0.805(L),-0.9484(T),,chr17,18630995,18630995,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg42Lys/c.125G>A|348|TRIM16L|protein_coding|CODING|NM_001037330.1|2|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1789,0.389,0.3976,0.40,0.43,0.39,,0.001157(U),0.946(P),"-0.24,-0.26,-0.26(T,T,T)",0.0000(T),0.393,0.306187,3.25,2.26,0.194000,1.813000,2.912000,0.168000,0.986000,1.000000,4.6102
missense_variant,FBXW10,MISSENSE,NM_001267585.1:p.Ile23Asn/c.68T>A,aTc/aAc,MODERATE,COSM3755323(3),0.467851,0.4544,rs11544711,0(D),"0.264,0.347,0.136,0.192(B,B,B,B)",0(N),-1.0052(T),,chr17,18647625,18647625,T,A,hom,"missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile23Asn/c.68T>A|1052|FBXW10|protein_coding|CODING|NM_001267585.1|1|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile23Asn/c.68T>A|999|FBXW10|protein_coding|CODING|NM_001267586.1|1|1),non_coding_exon_variant(MODIFIER|||n.300T>A||FBXW10||CODING|NR_051988.1|1|1)","HepG2:H3K4me2,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3558,0.5159,0.675,0.59,0.43,0.68,,0.860403(U),1.000(P),"1.84,1.84,1.84,1.84(T,T,T,T)",0.0000(T),0.178,-0.939803,3.31,1.04,0.333000,-0.003000,1.013000,0.161000,0.115000,0.002000,5.7983
missense_variant,FBXW10,MISSENSE,NM_001267585.1:p.Glu236Lys/c.706G>A,Gaa/Aaa,MODERATE,COSM4000045(1),,,rs9895749,0.03(D),"0.043,0.043,0.019,0.024(B,B,B,B)",1.95(M),-0.9568(T),,chr17,18653070,18653070,G,A,het,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu236Lys/c.706G>A|1052|FBXW10|protein_coding|CODING|NM_001267585.1|3|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu236Lys/c.706G>A|999|FBXW10|protein_coding|CODING|NM_001267586.1|3|1),non_coding_exon_variant(MODIFIER|||n.1584G>A||FBXW10||CODING|NR_051988.1|3|1)",NHEK:H3K36me3,,,,,,,0.37,0.30,0.40,,0.224080(N),1.000(P),"1.6,1.6,1.6,1.6(T,T,T,T)",0.0000(T),0.182,2.228790,2.49,1.48,0.405000,0.368000,0.490000,0.040000,0.129000,0.661000,5.1562
missense_variant,TVP23B,MISSENSE,NM_016078.4:p.Gly55Glu/c.164G>A,gGg/gAg,MODERATE,COSM3773779(1),0.843051,0.8948,rs61075345,0.95(T),0.002(B),-0.315(N),-0.9586(T),,chr17,18694277,18694277,G,A,hom,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly55Glu/c.164G>A|205|TVP23B|protein_coding|CODING|NM_016078.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7321,0.8516,0.8519,0.82,0.83,0.81,,0.000404(N),0.000(P),0.99(T),0.0000(T),0.095,-1.936877,3.76,3.76,-0.966000,0.496000,3.641000,0.153000,0.997000,1.000000,5.3949
synonymous_variant,TVP23B,SILENT,NM_016078.4:p.Ala142Ala/c.426T>C,gcT/gcC,LOW,,0.677516,0.8284,rs41389048,,,,,,chr17,18702220,18702220,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala142Ala/c.426T>C|205|TVP23B|protein_coding|CODING|NM_016078.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5327,0.7421,0.7028,0.67,0.63,0.70,,,,,,,,,,,,,,,,
synonymous_variant,PRPSAP2,SILENT,NM_002767.3:p.Thr59Thr/c.177A>G,acA/acG,LOW,COSM436169(1),0.46246,0.3294,rs4393623,,,,,,chr17,18775900,18775900,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr59Thr/c.177A>G|320|PRPSAP2|protein_coding|CODING|NM_001243940.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr59Thr/c.177A>G|369|PRPSAP2|protein_coding|CODING|NM_002767.3|5|1),5_prime_UTR_variant(MODIFIER||5130|c.-82A>G|283|PRPSAP2|protein_coding|CODING|NM_001243941.1|3|1),5_prime_UTR_variant(MODIFIER||5130|c.-82A>G|283|PRPSAP2|protein_coding|CODING|NM_001243942.1|4|1),intron_variant(MODIFIER|||c.120-5111A>G|329|PRPSAP2|protein_coding|CODING|NM_001243936.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.5101,0.5577,0.56,0.56,0.56,,,,,,,,,,,,,,,,
synonymous_variant,FAM83G,SILENT,NM_001039999.2:p.Ser808Ser/c.2424G>C,tcG/tcC,LOW,COSM3766031(3),0.674321,0.6329,rs916823,,,,,,chr17,18874720,18874720,C,G,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser808Ser/c.2424G>C|823|FAM83G|protein_coding|CODING|NM_001039999.2|6|1),intron_variant(MODIFIER|||c.846+189C>G|596|SLC5A10|protein_coding|CODING|NM_001042450.2|8|1),intron_variant(MODIFIER|||c.765+189C>G|569|SLC5A10|protein_coding|CODING|NM_001270648.1|7|1),intron_variant(MODIFIER|||c.846+189C>G|560|SLC5A10|protein_coding|CODING|NM_001270649.1|8|1),intron_variant(MODIFIER|||c.597+189C>G|566|SLC5A10|protein_coding|CODING|NM_001282417.1|7|1),intron_variant(MODIFIER|||c.846+189C>G|612|SLC5A10|protein_coding|CODING|NM_152351.4|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.6844,0.5855,0.63,0.73,0.57,,,,,,,,,,,,,,,,
missense_variant,EPN2,MISSENSE,NM_014964.4:p.Val401Ala/c.1202T>C,gTa/gCa,MODERATE,,0.903355,0.8542,rs6587220,0.55(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.695(N),-0.9834(T),,chr17,19232078,19232078,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val116Ala/c.347T>C|356|EPN2|protein_coding|CODING|NM_001102664.1|5|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val401Ala/c.1202T>C|641|EPN2|protein_coding|CODING|NM_014964.4|8|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val344Ala/c.1031T>C|584|EPN2|protein_coding|CODING|NM_148921.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7515,0.8746,0.994,0.99,0.99,0.99,,0.416644(N),1.000(P),"2.56,2.32,2.55,1.58,2.56,1.54(T,T,T,T,T,T)",0.0000(T),0.191,0.307242,5.14,3.11,-0.215000,0.266000,2.215000,0.037000,0.106000,0.680000,11.1271
missense_variant,B9D1,MISSENSE,NM_001243473.1:p.His187Tyr/c.559C>T,Cat/Tat,MODERATE,,0.310503,0.004,rs4924987,,,,,,chr17,19247075,19247075,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His187Tyr/c.559C>T|257|B9D1|protein_coding|CODING|NM_001243473.1|6|1),downstream_gene_variant(MODIFIER||744|||MIR1180||NON_CODING|NR_031591.1||1),intron_variant(MODIFIER|||c.399+28C>T|147|B9D1|protein_coding|CODING|NM_001243475.1|6|1),intron_variant(MODIFIER|||c.472+28C>T|204|B9D1|protein_coding|CODING|NM_015681.3|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.2853,0.5173,0.8121,0.60,0.20,0.81,,,,,,,,,,,,,,,,
synonymous_variant,SLC47A2,SILENT,NM_152908.3:p.Tyr331Tyr/c.993C>T,taC/taT,LOW,COSM1749904(4),0.426518,0.6081,rs4925042,,,,,,chr17,19608773,19608773,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr295Tyr/c.885C>T|566|SLC47A2|protein_coding|CODING|NM_001099646.1|10|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr295Tyr/c.885C>T|580|SLC47A2|protein_coding|CODING|NM_001256663.1|10|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr331Tyr/c.993C>T|602|SLC47A2|protein_coding|CODING|NM_152908.3|10|1)","H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4049,0.4409,0.2972,0.34,0.42,0.31,,,,,,,,,,,,,,,,
synonymous_variant,SLC47A2,SILENT,NM_152908.3:p.Gly115Gly/c.345C>A,ggC/ggA,LOW,COSM3755329(3),0.361621,0.4514,rs4924792,,,,,,chr17,19617236,19617236,G,T,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly115Gly/c.345C>A|566|SLC47A2|protein_coding|CODING|NM_001099646.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly115Gly/c.345C>A|580|SLC47A2|protein_coding|CODING|NM_001256663.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly115Gly/c.345C>A|602|SLC47A2|protein_coding|CODING|NM_152908.3|4|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4162,0.3372,0.2942,0.32,0.32,0.31,,,,,,,,,,,,,,,,
missense_variant,ALDH3A1,MISSENSE,NM_000691.4:p.Pro329Ala/c.985C>G,Ccg/Gcg,MODERATE,COSM3755330(1),0.379992,0.4395,rs2228100,0.29(T),"0.0,0.019,0.0(B,B,B)",0.17(N),-0.9620(T),,chr17,19642952,19642952,G,C,het,"missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro329Ala/c.985C>G|453|ALDH3A1|protein_coding|CODING|NM_000691.4|8|1),missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro329Ala/c.985C>G|453|ALDH3A1|protein_coding|CODING|NM_001135167.1|8|1),missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro329Ala/c.985C>G|453|ALDH3A1|protein_coding|CODING|NM_001135168.1|7|1)","K562:H3K27me3,IMR90:H3K27me3",,,,0.3834,0.3098,0.2396,0.32,0.46,0.25,,0.034329(N),0.000(P),"-0.93,-0.93,-0.93,-0.93(T,T,T,T)",0.0000(T),0.164,1.228526,4.82,2.57,0.655000,2.232000,0.843000,0.652000,0.947000,0.256000,11.1793
missense_variant,ALDH3A1,MISSENSE,NM_000691.4:p.Arg314Cys/c.940C>T,Cgc/Tgc,MODERATE,,0.00139776,0.0069,rs140881083,0.15(T),"0.027,0.057,0.027(B,B,B)",1.325(L),-0.9266(T),,chr17,19643658,19643658,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg314Cys/c.940C>T|453|ALDH3A1|protein_coding|CODING|NM_000691.4|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg314Cys/c.940C>T|453|ALDH3A1|protein_coding|CODING|NM_001135167.1|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg314Cys/c.940C>T|453|ALDH3A1|protein_coding|CODING|NM_001135168.1|6|1)","K562:H3K27me3,IMR90:H3K27me3",,,,0,0,0,0.00,0.00,0.00,,0.000009(D),1.000(D),"-1.0,-1.0,-1.0,-1.0(T,T,T,T)",0.1556(T),0.264,1.839839,4.82,1.14,0.655000,0.449000,0.823000,0.176000,0.077000,0.339000,3.5294
synonymous_variant,ALDH3A1,SILENT,NM_000691.4:p.Pro247Pro/c.741T>A,ccT/ccA,LOW,COSM3755331(1),0.290735,0.2956,rs2072330,,,,,,chr17,19644472,19644472,A,T,het,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro247Pro/c.741T>A|453|ALDH3A1|protein_coding|CODING|NM_000691.4|6|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro247Pro/c.741T>A|453|ALDH3A1|protein_coding|CODING|NM_001135167.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro247Pro/c.741T>A|453|ALDH3A1|protein_coding|CODING|NM_001135168.1|5|1)",IMR90:H3K27me3,,,,0.3783,0.3934,0.3907,0.30,0.12,0.39,,,,,,,,,,,,,,,,
missense_variant,ALDH3A1,MISSENSE,NM_000691.4:p.Ser134Ala/c.400T>G,Tca/Gca,MODERATE,,0.744609,0.9524,rs386619508,0.47(T),0.0(B),-1.785(N),-0.9688(T),,chr17,19645938,19645938,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser134Ala/c.400T>G|453|ALDH3A1|protein_coding|CODING|NM_000691.4|4|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser134Ala/c.400T>G|453|ALDH3A1|protein_coding|CODING|NM_001135167.1|4|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser134Ala/c.400T>G|453|ALDH3A1|protein_coding|CODING|NM_001135168.1|3|1)",IMR90:H3K27me3,,,,0.7863,0.7334,0.6441,0.65,0.64,0.66,,0.000004(N),1.000(P),"-0.9,-0.9,-0.9,-0.9,-0.9(T,T,T,T,T)",0.0000(T),0.047,-1.697205,4.63,3.64,-0.215000,0.396000,0.629000,0.038000,0.008000,0.072000,7.0596
missense_variant,ULK2,MISSENSE,NM_001142610.1:p.Val370Met/c.1108G>A,Gtg/Atg,MODERATE,,0.886581,0.7401,rs150122,0.29(T),0.0(B),-1.1(N),-1.0153(T),,chr17,19713740,19713740,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val370Met/c.1108G>A|1036|ULK2|protein_coding|CODING|NM_001142610.1|14|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val370Met/c.1108G>A|1036|ULK2|protein_coding|CODING|NM_014683.3|14|1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8211,0.9294,0.9662,0.97,0.96,0.97,,0.001686(N),1.000(P),"-0.71,-0.71(T,T)",0.0000(T),0.061,-1.186906,5.42,-0.961,-2.289000,-0.901000,-0.901000,0.005000,0.039000,0.000000,4.0877
synonymous_variant,ULK2,SILENT,NM_001142610.1:p.Ala264Ala/c.792A>G,gcA/gcG,LOW,,0.794129,0.5923,rs157397,,,,,,chr17,19729495,19729495,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala264Ala/c.792A>G|1036|ULK2|protein_coding|CODING|NM_001142610.1|11|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala264Ala/c.792A>G|1036|ULK2|protein_coding|CODING|NM_014683.3|11|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.817,0.8948,0.9642,0.91,0.80,0.97,,,,,,,,,,,,,,,,
missense_variant,AKAP10,MISSENSE,NM_007202.3:p.Ile646Val/c.1936A>G,Att/Gtt,MODERATE,,0.39397,0.1895,rs386553773,1(T),"0.0,0.0,0.0(B,B,B)",-1.085(N),-0.9687(T),,chr17,19812541,19812541,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile646Val/c.1936A>G|662|AKAP10|protein_coding|CODING|NM_007202.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000005735.1,,0.2751,0.4179,0.3946,0.45,0.58,0.38,,0.000000(N),1.000(P),2.01(T),0.0000(T),0.245,0.427698,5.88,5.88,-0.119000,1.505000,4.154000,0.790000,0.965000,0.997000,12.6849
missense_variant,AKAP10,MISSENSE,NM_007202.3:p.Arg249His/c.746G>A,cGt/cAt,MODERATE,,0.389577,0.1895,rs2108978,0.78(T),"0.0,0.0,0.0(B,B,B)",-1.61(N),-0.9733(T),,chr17,19861458,19861458,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg249His/c.746G>A|662|AKAP10|protein_coding|CODING|NM_007202.3|4|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:Cjun,HUVEC:Cjun,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:Cfos,HeLa-S3:H3K36me3,HUVEC:H3K27ac,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.2751,0.4135,0.3946,0.44,0.57,0.38,,0.004410(N),1.000(P),2.17(T),0.0000(T),0.073,-1.725654,5.87,2.36,-0.332000,0.128000,0.073000,0.206000,0.995000,0.989000,6.0625
synonymous_variant,SPECC1,SILENT,NM_001033553.2:p.Ser137Ser/c.411T>C,tcT/tcC,LOW,,0.539936,0.7937,rs2703805,,,,,,chr17,20107773,20107773,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser137Ser/c.411T>C|1068|SPECC1|protein_coding|CODING|NM_001033553.2|4|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser56Ser/c.168T>C|709|SPECC1|protein_coding|CODING|NM_001033554.2|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser56Ser/c.168T>C|987|SPECC1|protein_coding|CODING|NM_001033555.2|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser56Ser/c.168T>C|703|SPECC1|protein_coding|CODING|NM_001243438.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser137Ser/c.411T>C|1068|SPECC1|protein_coding|CODING|NM_001243439.1|4|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser137Ser/c.411T>C|790|SPECC1|protein_coding|CODING|NM_152904.4|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6503,0.4741,0.3996,0.40,0.40,0.40,,,,,,,,,,,,,,,,
missense_variant,SPECC1,MISSENSE,NM_001033553.2:p.Met293Leu/c.877A>T,Atg/Ttg,MODERATE,,0.819289,0.9861,rs2703806,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.845(N),-0.9024(T),,chr17,20108239,20108239,A,T,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met293Leu/c.877A>T|1068|SPECC1|protein_coding|CODING|NM_001033553.2|4|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met212Leu/c.634A>T|709|SPECC1|protein_coding|CODING|NM_001033554.2|2|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met212Leu/c.634A>T|987|SPECC1|protein_coding|CODING|NM_001033555.2|2|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met212Leu/c.634A>T|703|SPECC1|protein_coding|CODING|NM_001243438.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met293Leu/c.877A>T|1068|SPECC1|protein_coding|CODING|NM_001243439.1|4|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met293Leu/c.877A>T|790|SPECC1|protein_coding|CODING|NM_152904.4|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.6686,0.5716,0.69,0.91,0.58,,0.737914(N),1.000(P),"0.16,3.17,3.16,3.16(T,T,T,T)",0.0000(T),0.028,-1.185106,5.38,-10.8,-1.068000,-2.451000,-2.366000,0.251000,0.000000,0.000000,3.7002
synonymous_variant,SPECC1,SILENT,NM_001033553.2:p.Asn609Asn/c.1827C>T,aaC/aaT,LOW,,0.522764,0.7927,rs2703807,,,,,,chr17,20109189,20109189,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn609Asn/c.1827C>T|1068|SPECC1|protein_coding|CODING|NM_001033553.2|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn528Asn/c.1584C>T|709|SPECC1|protein_coding|CODING|NM_001033554.2|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn528Asn/c.1584C>T|987|SPECC1|protein_coding|CODING|NM_001033555.2|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn528Asn/c.1584C>T|703|SPECC1|protein_coding|CODING|NM_001243438.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn609Asn/c.1827C>T|1068|SPECC1|protein_coding|CODING|NM_001243439.1|4|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn609Asn/c.1827C>T|790|SPECC1|protein_coding|CODING|NM_152904.4|4|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.4669,0.3986,0.38,0.35,0.39,,,,,,,,,,,,,,,,
synonymous_variant,SPECC1,SILENT,NM_001033553.2:p.Ala954Ala/c.2862A>G,gcA/gcG,LOW,,0.819289,0.9861,rs2703791,,,,,,chr17,20163529,20163529,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala954Ala/c.2862A>G|1068|SPECC1|protein_coding|CODING|NM_001033553.2|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala873Ala/c.2619A>G|987|SPECC1|protein_coding|CODING|NM_001033555.2|10|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala954Ala/c.2862A>G|1068|SPECC1|protein_coding|CODING|NM_001243439.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8037,0.6686,0.5716,0.69,0.91,0.58,,,,,,,,,,,,,,,,
missense_variant,LGALS9B,MISSENSE,NM_001042685.1:p.Ser6Cys/c.17C>G,tCc/tGc,MODERATE,,0.807708,0.5913,rs4985834,0.13(T),"0.001,0.001(B,B)",1.245(L),-0.9396(T),,chr17,20370767,20370767,G,C,hom,missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser6Cys/c.17C>G|355|LGALS9B|protein_coding|CODING|NM_001042685.1|1|1),"HeLa-S3:DNase1,GM12878:SP1,GM12878:PolII,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1",,,,0.9294,0.8818,0.9115,,,,,0.175956(N),1.000(P),"3.89,3.89(T,T)",0.0117(T),0.117,0.153387,2.46,-0.148,0.175000,0.328000,-0.627000,0.283000,0.008000,0.001000,4.1392
missense_variant,CCDC144NL,MISSENSE,NM_001004306.1:p.Ala22Thr/c.64G>A,Gcc/Acc,MODERATE,,,,rs202138135,0(D),0.913(D),0.345(N),-1.0628(T),,chr17,20799270,20799270,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala22Thr/c.64G>A|221|CCDC144NL|protein_coding|CODING|NM_001004306.1|1|1),intron_variant(MODIFIER|||n.456+3525C>T||LOC440416||NON_CODING|NR_104185.1|2|1)","H1ESC:H3K36me3,K562:H3K36me3,HepG2:H3K36me3",,,,,,,0.00,0.00,0.00,,,1.000(N),1.55(T),0.0736(T),0.055,2.193273,0.87,0.87,0.274000,0.809000,0.237000,0.040000,0.008000,0.021000,5.162
synonymous_variant,USP22,SILENT,NM_015276.1:p.Tyr107Tyr/c.321C>T,taC/taT,LOW,,0.626997,0.4345,rs2291037,,,,,,chr17,20924523,20924523,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr107Tyr/c.321C>T|525|USP22|protein_coding|CODING|NM_015276.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.819,0.7032,0.7833,0.70,0.52,0.79,,,,,,,,,,,,,,,,
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Pro40Thr/c.118C>A,Ccc/Acc,MODERATE,COSM1741564(1),0.000199681,0,rs33911218,0.15(T),0.326(B),0.95(L),-0.9401(T),,chr17,21202191,21202191,C,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro11Thr/c.31C>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|3|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro40Thr/c.118C>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|3|1),splice_region_variant(LOW|||c.31C>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|3|1),splice_region_variant(LOW|||c.118C>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0,,,,,0.000143(D),1.000(D),"-0.67,-0.65,-0.74(T,T,T)",0.0000(T),0.453,2.557959,5.93,4.95,-0.175000,1.500000,7.043000,0.943000,0.967000,1.000000,17.1333
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Arg55Thr/c.164G>C,aGa/aCa,MODERATE,COSM3766040(2),0.000199681,0,rs36047035,0.1(T),0.03(B),0.625(N),-0.9684(T),,chr17,21202237,21202237,G,C,het,"missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg26Thr/c.77G>C|318|MAP2K3|protein_coding|CODING|NM_002756.4|3|1),missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg55Thr/c.164G>C|347|MAP2K3|protein_coding|CODING|NM_145109.2|3|1),splice_region_variant(LOW|||c.77G>C|318|MAP2K3|protein_coding|CODING|NM_002756.4|3|1),splice_region_variant(LOW|||c.164G>C|347|MAP2K3|protein_coding|CODING|NM_145109.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,,,,,0.000098(D),0.970(D),"1.08,1.08,-2.47(T,T,D)",0.0000(T),0.387,2.754779,5.93,3.5,0.655000,1.261000,4.728000,0.983000,0.997000,1.000000,4.5427
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Ser68Pro/c.202T>C,Tca/Cca,MODERATE,,,,rs34105301,0.05(D),0.056(B),2.555(M),-1.0974(T),,chr17,21203893,21203893,T,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser39Pro/c.115T>C|318|MAP2K3|protein_coding|CODING|NM_002756.4|4|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser68Pro/c.202T>C|347|MAP2K3|protein_coding|CODING|NM_145109.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.001191(N),1.000(N),"1.02,1.02,-2.52,-0.24(T,T,D,T)",0.0000(T),0.715,1.507030,5.47,5.47,0.533000,2.087000,1.894000,0.888000,0.984000,0.119000,11.1477
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Arg72Arg/c.216T>C,cgT/cgC,LOW,COSM3773781(2),,,rs73311539,,,,,,chr17,21203907,21203907,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg43Arg/c.129T>C|318|MAP2K3|protein_coding|CODING|NM_002756.4|4|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg72Arg/c.216T>C|347|MAP2K3|protein_coding|CODING|NM_145109.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Val81Val/c.243G>A,gtG/gtA,LOW,COSM4129702(1),,,rs62057672,,,,,,chr17,21203934,21203934,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val52Val/c.156G>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|4|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val81Val/c.243G>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Ala84Thr/c.250G>A,Gcc/Acc,MODERATE,COSM1579200(3),,,rs2305873,0.4(T),0.338(B),-0.17(N),-1.0151(T),,chr17,21203941,21203941,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala55Thr/c.163G>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala84Thr/c.250G>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000110(D),0.999(D),"-0.17,-0.17,-0.17(T,T,T)",0.0000(T),0.691,3.511568,5.47,5.47,0.655000,2.582000,4.059000,0.975000,0.998000,1.000000,19.3291
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Ser86Ser/c.258C>T,agC/agT,LOW,,,,rs62057673,,,,,,chr17,21203949,21203949,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser57Ser/c.171C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|4|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser86Ser/c.258C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Ala91Ala/c.273C>G,gcC/gcG,LOW,COSM330335(2),,,rs34458870,,,,,,chr17,21203964,21203964,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala62Ala/c.186C>G|318|MAP2K3|protein_coding|CODING|NM_002756.4|4|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala91Ala/c.273C>G|347|MAP2K3|protein_coding|CODING|NM_145109.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Arg94Leu/c.281G>T,cGg/cTg,MODERATE,COSM3773782(4),,,rs56067280,0.01(D),0.671(P),0.595(N),-1.0011(T),,chr17,21204187,21204187,G,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg65Leu/c.194G>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|5|1),missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg94Leu/c.281G>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|5|1),splice_region_variant(LOW|||c.194G>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|5|1),splice_region_variant(LOW|||c.281G>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000002(D),0.000(P),"1.09,1.09,-2.47(T,T,D)",0.0000(T),0.953,3.314111,5.08,5.08,0.655000,2.359000,7.845000,0.817000,1.000000,1.000000,18.4815
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Arg96Trp/c.286C>T,Cgg/Tgg,MODERATE,COSM3773783(4),,,rs56216806,0.01(D),0.994(D),2.375(M),-0.9444(T),,chr17,21204192,21204192,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg67Trp/c.199C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|5|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg96Trp/c.286C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000006(D),1.000(D),"-0.23,-0.23,-0.23(T,T,T)",0.0000(T),0.939,2.698443,5.08,5.08,0.655000,2.359000,2.458000,0.876000,1.000000,0.986000,13.4514
stop_gained,MAP2K3,NONSENSE,NM_145109.2:p.Gln102*/c.304C>T,Cag/Tag,HIGH,,,,rs55796947,0.74(T),,,,MAP2K3:1.00(2);MAP2K3:1.00(2);,chr17,21204210,21204210,C,T,het,"stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln73*/c.217C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|5|1),stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln102*/c.304C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000004(D),1.000(A),,,.,4.876226,5.08,5.08,0.655000,2.359000,5.826000,0.967000,0.939000,1.000000,18.4815
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Thr117Thr/c.351G>A,acG/acA,LOW,COSM298238(1),,,rs56166328,,,,,,chr17,21204257,21204257,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr88Thr/c.264G>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|5|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr117Thr/c.351G>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Cys120Cys/c.360T>C,tgT/tgC,LOW,,0.306909,0.2183,rs2230435,,,,,,chr17,21204266,21204266,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys91Cys/c.273T>C|318|MAP2K3|protein_coding|CODING|NM_002756.4|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys120Cys/c.360T>C|347|MAP2K3|protein_coding|CODING|NM_145109.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3507,0.2939,0.2664,0.52,0.55,0.51,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Gly128Gly/c.384G>C,ggG/ggC,LOW,COSM330336(4),,,rs2305872,,,,,,chr17,21204290,21204290,G,C,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly99Gly/c.297G>C|318|MAP2K3|protein_coding|CODING|NM_002756.4|5|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly128Gly/c.384G>C|347|MAP2K3|protein_coding|CODING|NM_145109.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Asp135Asp/c.405C>T,gaC/gaT,LOW,,,,rs62057721,,,,,,chr17,21205460,21205460,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp106Asp/c.318C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp135Asp/c.405C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Thr222Met/c.665C>T,aCg/aTg,MODERATE,,,,rs58609466,0.01(D),1.0(D),2.465(M),-1.1514(T),,chr17,21207834,21207834,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr193Met/c.578C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr222Met/c.665C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,0.000001(D),1.000(D),"-0.3,-0.3(T,T)",0.0000(T),0.854,4.735409,4.87,4.87,0.563000,2.242000,7.677000,0.990000,0.971000,1.000000,18.0327
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Ser249Ser/c.747C>T,tcC/tcT,LOW,,,,rs1657695,,,,,,chr17,21208413,21208413,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser220Ser/c.660C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|9|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser249Ser/c.747C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Tyr268Tyr/c.804C>T,taC/taT,LOW,COSM3773785(2),0.00798722,0.0357,rs55935757,,,,,,chr17,21215483,21215483,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr239Tyr/c.717C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|10|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr268Tyr/c.804C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0,0,0.004,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Ser286Ser/c.858C>A,tcC/tcA,LOW,COSM4129707(1),0.00219649,0,rs55736474,,,,,,chr17,21215537,21215537,C,A,het,"synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser257Ser/c.771C>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|10|1),synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser286Ser/c.858C>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Ala291Ala/c.873C>T,gcC/gcT,LOW,COSM3773788(3),,,rs56369732,,,,,,chr17,21215552,21215552,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala262Ala/c.786C>T|318|MAP2K3|protein_coding|CODING|NM_002756.4|10|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala291Ala/c.873C>T|347|MAP2K3|protein_coding|CODING|NM_145109.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Arg293His/c.878G>A,cGt/cAt,MODERATE,COSM3773790(2),,,rs35206134,0.09(T),0.836(P),0.42(N),-0.9520(T),,chr17,21215557,21215557,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg264His/c.791G>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|10|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg293His/c.878G>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,0.063605(N),0.991(N),"-0.18,-0.18(T,T)",0.0000(T),0.234,3.411528,5.93,0.552,-0.734000,-0.076000,0.507000,0.759000,0.104000,0.003000,5.9239
synonymous_variant,MAP2K3,SILENT,NM_145109.2:p.Leu319Leu/c.957G>C,ctG/ctC,LOW,COSM4129709(2),,,rs1657688,,,,,,chr17,21216846,21216846,G,C,het,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu290Leu/c.870G>C|318|MAP2K3|protein_coding|CODING|NM_002756.4|11|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu319Leu/c.957G>C|347|MAP2K3|protein_coding|CODING|NM_145109.2|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MAP2K3,MISSENSE,NM_145109.2:p.Val339Met/c.1015G>A,Gtg/Atg,MODERATE,,,,rs2363198,0(D),0.789(P),1.655(L),-0.9864(T),,chr17,21217513,21217513,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val310Met/c.928G>A|318|MAP2K3|protein_coding|CODING|NM_002756.4|12|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val339Met/c.1015G>A|347|MAP2K3|protein_coding|CODING|NM_145109.2|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000260(D),1.000(D),"-0.77,-0.77(T,T)",0.0000(T),0.308,3.585780,4.9,3.94,-0.320000,1.057000,7.174000,0.492000,0.983000,1.000000,10.6662
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Ala3Ala/c.9G>A,gcG/gcA,LOW,COSM3755337(6),,,rs72846666,,,,,,chr17,21318663,21318663,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala3Ala/c.9G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala3Ala/c.9G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Ser15Leu/c.44C>T,tCg/tTg,MODERATE,COSM436188(5),,,rs1657738,0.12(T),0.179(B),1.735(L),-0.7984(T),,chr17,21318698,21318698,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser15Leu/c.44C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser15Leu/c.44C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000002(D),1.000(D),1.3(T),0.0000(T),0.334,3.253602,5.33,4.37,0.591000,1.257000,5.954000,0.983000,0.117000,1.000000,13.6407
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Arg43His/c.128G>A,cGc/cAc,MODERATE,COSM1318527(5),,,rs78117732,0.06(T),0.028(B),1.555(L),-0.8500(T),,chr17,21318782,21318782,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg43His/c.128G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg43His/c.128G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),1.29(T),0.0000(T),0.83,3.420800,5.33,4.37,0.591000,1.265000,9.690000,0.990000,0.997000,1.000000,14.0406
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Glu56Ala/c.167A>C,gAg/gCg,MODERATE,COSM148213(4),,,rs1714865,0.71(T),0.042(B),0.375(N),-1.0999(T),,chr17,21318821,21318821,A,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu56Ala/c.167A>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu56Ala/c.167A>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,0.34,0.35,0.34,,0.000001(D),1.000(D),-3.29(D),0.0000(T),0.301,0.732400,5.33,5.33,0.482000,2.027000,9.171000,0.981000,1.000000,1.000000,15.3028
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Arg81Arg/c.243G>C,cgG/cgC,LOW,,,,rs1657739,,,,,,chr17,21318897,21318897,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg81Arg/c.243G>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg81Arg/c.243G>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Phe98Phe/c.294C>T,ttC/ttT,LOW,COSM291475(1),,,rs112314728,,,,,,chr17,21318948,21318948,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe98Phe/c.294C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe98Phe/c.294C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Gly99Gly/c.297C>T,ggC/ggT,LOW,,0.00499201,0,,,,,,,chr17,21318951,21318951,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly99Gly/c.297C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly99Gly/c.297C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Ile100Val/c.298A>G,Atc/Gtc,MODERATE,,0.4998,0.5,rs8076599,0.48(T),0.001(B),-0.67(N),-0.9349(T),,chr17,21318952,21318952,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile100Val/c.298A>G|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile100Val/c.298A>G|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.5,0.5,0.5,,,,,0.069129(N),1.000(N),-3.76(D),0.0000(T),0.131,-0.839995,5.22,-3.72,-1.952000,-0.937000,-0.470000,0.354000,0.004000,0.000000,4.0563
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Ile105Ile/c.315C>T,atC/atT,LOW,COSM4129712(1),0.000199681,0,rs79666990,,,,,,chr17,21318969,21318969,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile105Ile/c.315C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile105Ile/c.315C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.His109His/c.327C>T,caC/caT,LOW,COSM4129713(1),,,rs9909970,,,,,,chr17,21318981,21318981,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His109His/c.327C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His109His/c.327C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Arg118Gln/c.353G>A,cGg/cAg,MODERATE,COSM1630088(2),0.498203,0.5,rs1657740,0.58(T),0.108(B),-0.345(N),-0.4626(T),,chr17,21319007,21319007,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg118Gln/c.353G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg118Gln/c.353G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.499,0.5,0.5,,,,,0.308893(N),1.000(N),-3.25(D),0.4279(T),0.092,0.333536,5.23,-2.04,0.591000,-0.020000,1.199000,0.632000,0.034000,0.491000,5.7265
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Arg118Arg/c.354G>C,cgG/cgC,LOW,COSM3766041(1),0.498802,0.5,rs1657741,,,,,,chr17,21319008,21319008,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg118Arg/c.354G>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg118Arg/c.354G>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.499,0.5,0.5,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Glu139Lys/c.415G>A,Gag/Aag,MODERATE,COSM312196(5),,,rs76265595,0.01(D),1.0(D),3.72(H),1.0984(D),,chr17,21319069,21319069,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu139Lys/c.415G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu139Lys/c.415G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-4.08(D),0.9588(D),0.988,5.148688,5.23,5.23,0.591000,2.448000,9.690000,0.998000,0.995000,1.000000,18.7905
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Thr142Asn/c.425C>A,aCc/aAc,MODERATE,COSM4129714(1),,,rs76518282,0.06(T),0.95(D),3.72(H),1.0906(D),,chr17,21319079,21319079,C,A,het,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr142Asn/c.425C>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr142Asn/c.425C>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000001(D),1.000(D),-4.35(D),0.9630(D),0.445,4.380515,5.23,5.23,0.591000,2.448000,7.680000,0.997000,1.000000,1.000000,18.7906
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Gly145Ser/c.433G>A,Ggc/Agc,MODERATE,COSM1741566(2),0.000199681,0.001,rs75029097,0.01(D),1.0(D),4.135(H),0.8995(D),,chr17,21319087,21319087,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly145Ser/c.433G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly145Ser/c.433G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0,0,0,,,,,0.000000(D),1.000(D),-7.9(D),0.9974(D),0.982,5.047022,5.23,5.23,0.591000,2.448000,9.690000,0.981000,0.993000,1.000000,18.7905
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Thr152Thr/c.456G>A,acG/acA,LOW,COSM4129715(1),,,rs77283567,,,,,,chr17,21319110,21319110,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr152Thr/c.456G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr152Thr/c.456G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Pro156Leu/c.467C>T,cCg/cTg,MODERATE,,,,rs1714864,0.01(D),1.0(D),2.795(M),-1.3685(T),,chr17,21319121,21319121,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro156Leu/c.467C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro156Leu/c.467C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.43(D),0.0000(T),0.942,4.637763,5.32,5.32,0.655000,2.496000,7.680000,0.966000,0.949000,1.000000,18.9979
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Asp173Asn/c.517G>A,Gac/Aac,MODERATE,COSM1741567(2),,,rs73313922,0.56(T),1.0(D),1.78(L),0.6607(D),,chr17,21319171,21319171,G,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp173Asn/c.517G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp173Asn/c.517G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.27(D),0.8553(D),0.402,3.410287,5.32,5.32,0.655000,2.496000,9.690000,0.997000,1.000000,1.000000,18.9979
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Ala185Val/c.554C>T,gCa/gTa,MODERATE,COSM3766042(2),,,rs73979896,0.02(D),0.435(B),2.34(M),0.8905(D),,chr17,21319208,21319208,C,T,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala185Val/c.554C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala185Val/c.554C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.76(D),0.8507(D),0.905,4.568141,5.32,5.32,0.655000,2.496000,7.680000,0.950000,0.954000,1.000000,18.9979
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Gln192His/c.576G>C,caG/caC,MODERATE,COSM436189(3),,,rs1657742,0.03(D),0.009(B),1.6(L),0.1784(D),,chr17,21319230,21319230,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln192His/c.576G>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln192His/c.576G>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000001(N),0.998(D),-3.38(D),0.6905(D),0.731,1.781011,5.32,5.32,0.655000,2.496000,2.586000,0.996000,1.000000,1.000000,9.6785
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Asn199Asn/c.597C>T,aaC/aaT,LOW,COSM3766043(2),0.000399361,0.002,rs73313923,,,,,,chr17,21319251,21319251,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn199Asn/c.597C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn199Asn/c.597C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Asp206Asp/c.618C>T,gaC/gaT,LOW,COSM3766044(3),,,rs73313926,,,,,,chr17,21319272,21319272,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp206Asp/c.618C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp206Asp/c.618C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Leu211Phe/c.631C>T,Ctc/Ttc,MODERATE,COSM1600357(4),,,rs72846667,0.13(T),0.618(P),1.52(L),0.7144(D),,chr17,21319285,21319285,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu211Phe/c.631C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu211Phe/c.631C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000001(D),1.000(D),-3.96(D),0.8377(D),0.908,2.862709,5.32,5.32,0.655000,2.496000,2.117000,0.998000,1.000000,1.000000,10.5828
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Gly216Gly/c.648T>C,ggT/ggC,LOW,,,,rs1657743,,,,,,chr17,21319302,21319302,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly216Gly/c.648T>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly216Gly/c.648T>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Arg219Arg/c.657C>T,cgC/cgT,LOW,COSM3766045(2),,,rs72846668,,,,,,chr17,21319311,21319311,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg219Arg/c.657C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg219Arg/c.657C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Glu239Lys/c.715G>A,Gag/Aag,MODERATE,COSM3722241(5),,,rs77048459,1(T),0.207(B),0.375(N),-0.0101(T),,chr17,21319369,21319369,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu239Lys/c.715G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu239Lys/c.715G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000067(D),1.000(D),-3.22(D),0.5512(D),0.558,1.365207,5.32,4.34,0.655000,1.219000,4.708000,0.959000,0.858000,1.000000,15.9443
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Leu246Leu/c.738G>A,ctG/ctA,LOW,COSM3722243(3),,,rs73979899,,,,,,chr17,21319392,21319392,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu246Leu/c.738G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu246Leu/c.738G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Ile251Ile/c.753C>T,atC/atT,LOW,COSM1381528(3),,,rs16962951,,,,,,chr17,21319407,21319407,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile251Ile/c.753C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile251Ile/c.753C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Arg261His/c.782G>A,cGc/cAc,MODERATE,COSM312197(5),,,rs77270326,0.01(D),0.997(D),2.88(M),1.0466(D),,chr17,21319436,21319436,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg261His/c.782G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg261His/c.782G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.45(D),0.9236(D),0.915,4.973917,5.43,5.43,0.655000,2.554000,9.690000,0.995000,1.000000,1.000000,19.2333
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Ile262Ser/c.785T>G,aTc/aGc,MODERATE,COSM312198(5),,,rs76684759,0.01(D),0.99(D),2.925(M),1.0543(D),,chr17,21319439,21319439,T,G,het,"missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile262Ser/c.785T>G|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile262Ser/c.785T>G|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.51(D),0.9192(D),0.991,4.198903,5.43,5.43,0.533000,2.065000,7.898000,0.985000,1.000000,1.000000,15.4739
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Ser266Ser/c.798G>A,tcG/tcA,LOW,COSM4129716(2),0.00319489,0,rs73313929,,,,,,chr17,21319452,21319452,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser266Ser/c.798G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser266Ser/c.798G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0,0.0014,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Leu271Leu/c.811T>C,Ttg/Ctg,LOW,COSM312199(4),,,,,,,,,chr17,21319465,21319465,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu271Leu/c.811T>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu271Leu/c.811T>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.His272His/c.816T>C,caT/caC,LOW,COSM312200(2),,,,,,,,,chr17,21319470,21319470,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His272His/c.816T>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His272His/c.816T>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Glu273Glu/c.819G>A,gaG/gaA,LOW,,,,rs1657744,,,,,,chr17,21319473,21319473,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu273Glu/c.819G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu273Glu/c.819G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Ser278Ser/c.834C>T,agC/agT,LOW,COSM312201(4),,,rs77176173,,,,,,chr17,21319488,21319488,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser278Ser/c.834C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser278Ser/c.834C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Glu289Gln/c.865G>C,Gag/Cag,MODERATE,COSM312202(5),,,rs78113532,0.5(T),0.023(B),1.135(L),0.1159(D),,chr17,21319519,21319519,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu289Gln/c.865G>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu289Gln/c.865G>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.33(D),0.6840(D),0.762,2.275709,5.44,5.44,0.561000,2.561000,9.698000,0.959000,1.000000,1.000000,19.2719
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Thr290Met/c.869C>T,aCg/aTg,MODERATE,COSM4129717(2),0.000199681,0,rs77987694,0.09(T),0.479(P),2.31(M),0.7282(D),,chr17,21319523,21319523,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr290Met/c.869C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr290Met/c.869C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0,0.0014,0,,,,,0.000000(D),1.000(D),-3.35(D),0.8060(D),0.646,3.773212,5.44,5.44,0.561000,2.561000,3.955000,0.864000,0.921000,0.999000,19.2719
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Asp291Asp/c.873C>T,gaC/gaT,LOW,COSM3773791(2),0.000399361,0,rs80022364,,,,,,chr17,21319527,21319527,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp291Asp/c.873C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp291Asp/c.873C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Val297Ile/c.889G>A,Gtc/Atc,MODERATE,COSM4129718(1),,,rs80335301,0.05(D),0.169(B),2.305(M),0.6847(D),,chr17,21319543,21319543,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val297Ile/c.889G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val297Ile/c.889G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.45(D),0.8287(D),0.752,3.881967,5.44,5.44,0.561000,2.561000,9.698000,0.979000,1.000000,1.000000,19.2719
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Met302Ile/c.906G>T,atG/atT,MODERATE,COSM4129719(1),,,rs74801394,0.34(T),0.681(P),0.985(L),0.4755(D),,chr17,21319560,21319560,G,T,het,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met302Ile/c.906G>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met302Ile/c.906G>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-3.19(D),0.7653(D),0.908,4.197178,5.44,5.44,0.561000,2.561000,9.698000,0.997000,1.000000,1.000000,19.2719
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Ser343Leu/c.1028C>T,tCg/tTg,MODERATE,COSM77932(3),,,rs80203231,0.03(D),0.058(B),2.375(M),0.4282(D),,chr17,21319682,21319682,C,T,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser343Leu/c.1028C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser343Leu/c.1028C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000001(D),1.000(D),-3.12(D),0.7634(D),0.615,3.857121,5.76,5.76,0.655000,2.732000,7.686000,0.997000,0.994000,1.000000,19.9738
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Thr354Thr/c.1062G>A,acG/acA,LOW,COSM148214(3),,,rs78135255,,,,,,chr17,21319716,21319716,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr354Thr/c.1062G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr354Thr/c.1062G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Ser358Ser/c.1074T>C,agT/agC,LOW,COSM148215(2),,,rs76681424,,,,,,chr17,21319728,21319728,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser358Ser/c.1074T>C|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser358Ser/c.1074T>C|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Val363Val/c.1089A>G,gtA/gtG,LOW,COSM312203(4),,,rs76267885,,,,,,chr17,21319743,21319743,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val363Val/c.1089A>G|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val363Val/c.1089A>G|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Ser371Ser/c.1113C>T,agC/agT,LOW,COSM1285668(2),,,,,,,,,chr17,21319767,21319767,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser371Ser/c.1113C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser371Ser/c.1113C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,RCV000071369.2,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Tyr377Tyr/c.1131C>T,taC/taT,LOW,,,,rs1657745,,,,,,chr17,21319785,21319785,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr377Tyr/c.1131C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr377Tyr/c.1131C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Glu378Lys/c.1132G>A,Gag/Aag,MODERATE,COSM312204(6),,,rs78547883,0.13(T),0.876(P),2.74(M),0.9464(D),,chr17,21319786,21319786,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu378Lys/c.1132G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu378Lys/c.1132G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.000004(D),1.000(D),-3.47(D),0.9079(D),0.608,4.902792,5.64,5.64,0.637000,2.662000,9.689000,0.769000,0.986000,1.000000,19.6933
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Asp397Asp/c.1191C>T,gaC/gaT,LOW,COSM3773792(1),0.000199681,0,,,,,,,chr17,21319845,21319845,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp397Asp/c.1191C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp397Asp/c.1191C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,RCV000071370.2,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ18,SILENT,NM_001194958.2:p.Asp402Asp/c.1206C>T,gaC/gaT,LOW,COSM1285669(1),,,rs2917720,,,,,,chr17,21319860,21319860,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp402Asp/c.1206C>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp402Asp/c.1206C>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Ser405Ile/c.1214G>T,aGc/aTc,MODERATE,COSM1563379(4),,,,0.08(T),0.027(B),1.61(L),-0.3693(T),,chr17,21319868,21319868,G,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser405Ile/c.1214G>T|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser405Ile/c.1214G>T|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,RCV000071371.2,,,,,,,,,0.357607(N),0.000(P),-2.37(D),0.6707(D),0.617,3.252898,5.83,5.83,0.655000,2.758000,5.226000,0.849000,0.718000,1.000000,18.3013
missense_variant,KCNJ18,MISSENSE,NM_001194958.2:p.Glu430Gly/c.1289A>G,gAg/gGg,MODERATE,COSM3755340(4),,,rs5021699,0.04(D),0.999(D),2.175(M),0.8096(D),,chr17,21319943,21319943,A,G,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu430Gly/c.1289A>G|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu430Gly/c.1289A>G|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,0.023059(N),1.000(D),-2.63(D),0.8290(D),0.594,3.515652,5.41,5.41,0.528000,2.066000,9.091000,0.519000,0.998000,1.000000,15.4536
stop_retained_variant,KCNJ18,SILENT,NM_001194958.2:p.Ter434Ter/c.1301G>A,tGa/tAa,LOW,COSM3932518(1),,,rs76506689,,,,,,chr17,21319955,21319955,G,A,het,"stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter434Ter/c.1301G>A|433|KCNJ18|protein_coding|CODING|NM_001194958.2|3|1),stop_retained_variant(LOW|SILENT|tGa/tAa|p.Ter434Ter/c.1301G>A|433|KCNJ12|protein_coding|CODING|NM_021012.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,WSB1,MISSENSE,NM_015626.8:p.Leu16Ser/c.47T>C,tTa/tCa,MODERATE,COSM4000066(1),0.45607,0.2609,rs6561,0.32(T),"0.0,0.0(B,B)",-0.69(N),-0.9891(T),,chr17,25628820,25628820,T,C,het,"missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu16Ser/c.47T>C|421|WSB1|protein_coding|CODING|NM_015626.8|2|1),intron_variant(MODIFIER|||c.41-2986T>C|275|WSB1|protein_coding|CODING|NM_134265.2|1|1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.5256,0.3718,0.3887,0.49,0.62,0.42,,0.010041(N),0.000(P),1.16(T),0.0000(T),0.5,0.400188,5.84,4.87,-0.119000,0.824000,5.174000,0.158000,1.000000,1.000000,11.8244
synonymous_variant,KSR1,SILENT,NM_014238.1:p.Leu96Leu/c.288G>T,ctG/ctT,LOW,COSM4129737(1),0.383187,0.4067,rs2293181,,,,,,chr17,25909850,25909850,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu96Leu/c.288G>T|762|KSR1|protein_coding|CODING|NM_014238.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.274,0.438,0.4911,0.41,0.32,0.45,,,,,,,,,,,,,,,,
synonymous_variant,NOS2,SILENT,NM_000625.4:p.Thr919Thr/c.2757A>G,acA/acG,LOW,COSM1243439(1),0.729832,0.6696,rs1060826,,,,,,chr17,26089867,26089867,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr919Thr/c.2757A>G|1153|NOS2|protein_coding|CODING|NM_000625.4|22|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,HeLa-S3:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.8671,0.6484,0.6153,0.67,0.77,0.61,,,,,,,,,,,,,,,,
synonymous_variant,NOS2,SILENT,NM_000625.4:p.Gly786Gly/c.2358T>C,ggT/ggC,LOW,COSM4000072(1),0.730831,0.6706,rs1060822,,,,,,chr17,26092631,26092631,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly786Gly/c.2358T>C|1153|NOS2|protein_coding|CODING|NM_000625.4|20|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.8681,0.6484,0.6143,0.67,0.78,0.61,,,,,,,,,,,,,,,,
missense_variant,POLDIP2,MISSENSE,NM_015584.4:p.Arg322His/c.965G>A,cGc/cAc,MODERATE,,0.505192,0.7073,rs13469,,,,,,chr17,26676135,26676135,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg304His/c.911G>A|349|POLDIP2|protein_coding|CODING|NM_001290145.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg322His/c.965G>A|367|POLDIP2|protein_coding|CODING|NM_015584.4|10|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4744,0.562,0.499,0.47,0.36,0.52,,,,,,,,,,,,,,,,
missense_variant,POLDIP2,MISSENSE,NM_015584.4:p.Gln27Pro/c.80A>C,cAa/cCa,MODERATE,,0.998602,0.999,rs17856014,,,,,,chr17,26684394,26684394,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln27Pro/c.80A>C|349|POLDIP2|protein_coding|CODING|NM_001290145.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln27Pro/c.80A>C|367|POLDIP2|protein_coding|CODING|NM_015584.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),upstream_gene_variant(MODIFIER||293||208|TMEM199|protein_coding|CODING|NM_152464.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:Sin3Ak20",,,,0.999,0.9957,0.999,,,,,,,,,,,,,,,,,,,
missense_variant,POLDIP2,MISSENSE,NM_015584.4:p.Pro9Ala/c.25C>G,Ccc/Gcc,MODERATE,,1,1,rs4795429,,,,,,chr17,26684449,26684449,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro9Ala/c.25C>G|349|POLDIP2|protein_coding|CODING|NM_001290145.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro9Ala/c.25C>G|367|POLDIP2|protein_coding|CODING|NM_015584.4|1|1|WARNING_TRANSCRIPT_INCOMPLETE),upstream_gene_variant(MODIFIER||238||208|TMEM199|protein_coding|CODING|NM_152464.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,GM12878:ETS1,HUVEC:H3K9ac,GM12878:SIX5,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:HNF4A,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,SEBOX,MISSENSE,NM_001080837.3:p.Leu181Ser/c.542T>C,tTg/tCg,MODERATE,COSM4129761(1),0.879193,0.9921,rs9910163,0.93(T),"0.0,0.0(B,B)",-0.975(N),-0.9225(T),,chr17,26691321,26691321,A,G,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu181Ser/c.542T>C|190|SEBOX|protein_coding|CODING|NM_001080837.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.82,0.7651,0.7584,0.84,0.96,0.78,,0.063460(N),0.984(P),"-2.72,-2.8,-2.8(D,D,D)",0.0000(T),0.169,-1.684992,5.21,2.09,-1.964000,0.080000,1.886000,0.188000,0.147000,0.981000,12.9531
missense_variant,VTN,MISSENSE,NM_000638.3:p.Thr400Met/c.1199C>T,aCg/aTg,MODERATE,COSM4129762(1),0.555112,0.7083,rs704,,,1.15(L),-0.9025(T),,chr17,26694861,26694861,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr400Met/c.1199C>T|478|VTN|protein_coding|CODING|NM_000638.3|7|1),"HUVEC:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4438,0.5389,0.4493,0.51,0.57,0.48,,,1.000(P),,0.0000(T),.,1.846907,4.47,-8.94,-0.964000,-2.112000,-3.133000,0.000000,0.000000,0.000000,6.4258
missense_variant,SARM1,MISSENSE,NM_015077.3:p.Arg23Pro/c.68G>C,cGg/cCg,MODERATE,,1,1,rs7212814,1(T),,,-0.9646(T),,chr17,26699121,26699121,G,C,hom,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg23Pro/c.68G>C|723|SARM1|protein_coding|CODING|NM_015077.3|1|1),upstream_gene_variant(MODIFIER||1748||478|VTN|protein_coding|CODING|NM_000638.3||1)","IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,GM12878:PolII,HSMM:H3K4me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,1,1,,,,,0.686070(N),0.978(P),,0.0000(T),0.137,0.116613,4.93,3.94,-1.514000,0.497000,1.263000,0.001000,0.000000,0.001000,5.2918
missense_variant,SARM1,MISSENSE,NM_015077.3:p.Ser266Pro/c.796T>C,Tcg/Ccg,MODERATE,COSM4129767(1),0.966254,0.9355,rs11658194,0.46(T),0.0(B),,-1.0468(T),,chr17,26708550,26708550,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser266Pro/c.796T>C|723|SARM1|protein_coding|CODING|NM_015077.3|3|1),"NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.9949,0.9452,0.9543,1.00,1.00,1.00,,,0.000(P),1.07(T),0.0000(T),0.129,3.396671,5.27,3.19,-0.119000,0.192000,3.698000,0.836000,0.987000,1.000000,9.1482
missense_variant,SARM1,MISSENSE,NM_015077.3:p.Ser266Trp/c.797C>G,tCg/tGg,MODERATE,COSM4129768(1),1,1,rs11652384,0.3(T),0.0(B),,-1.0718(T),,chr17,26708551,26708551,C,G,hom,missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser266Trp/c.797C>G|723|SARM1|protein_coding|CODING|NM_015077.3|3|1),"NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3,H1ESC:CTCF",,,,1,1,1,1.00,0.99,1.00,,,0.000(P),1.22(T),0.0000(T),0.109,2.869362,5.27,4.09,-0.120000,1.236000,4.471000,0.842000,0.992000,1.000000,9.8266
missense_variant,SLC13A2,MISSENSE,NM_001145975.1:p.Ile599Val/c.1795A>G,Atc/Gtc,MODERATE,COSM148219(4),0.473442,0.3452,rs11567842,1(T),"0.0,0.0,0.0,0.001(B,B,B,B)",-1.425(N),-1.0085(T),,chr17,26824156,26824156,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile599Val/c.1795A>G|641|SLC13A2|protein_coding|CODING|NM_001145975.1|12|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile550Val/c.1648A>G|592|SLC13A2|protein_coding|CODING|NM_003984.3|12|1),non_coding_exon_variant(MODIFIER|||n.1856A>G||SLC13A2||CODING|NR_027384.1|13|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4417,0.5346,0.3698,0.42,0.58,0.35,,0.490860(N),1.000(P),"3.99,3.99,3.99,3.99(T,T,T,T)",0.0000(T),0.112,-1.113770,5.27,3.21,-0.215000,0.590000,0.555000,0.420000,1.000000,0.529000,8.1201
synonymous_variant,SUPT6H,SILENT,NM_003170.3:p.Gly534Gly/c.1602C>T,ggC/ggT,LOW,,0.402955,0.5962,rs12051648,,,,,,chr17,27009749,27009749,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly534Gly/c.1602C>T|1726|SUPT6H|protein_coding|CODING|NM_003170.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.501,0.4568,0.5646,0.42,0.12,0.58,,,,,,,,,,,,,,,,
synonymous_variant,ERAL1,SILENT,NM_005702.2:p.Asp315Asp/c.945C>T,gaC/gaT,LOW,,0.771166,0.749,rs2242345,,,,,,chr17,27185827,27185827,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp315Asp/c.945C>T|437|ERAL1|protein_coding|CODING|NM_005702.2|7|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6667,0.6873,0.8052,0.82,0.87,0.80,,,,,,,,,,,,,,,,
missense_variant,SEZ6,MISSENSE,NM_178860.4:p.Thr546Ala/c.1636A>G,Aca/Gca,MODERATE,,0.360423,0.244,rs1976165,0.27(T),"0.0,0.0(B,B)",1.04(L),-0.9403(T),,chr17,27286851,27286851,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|993|SEZ6|protein_coding|CODING|NM_001098635.1|8|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr421Ala/c.1261A>G|869|SEZ6|protein_coding|CODING|NM_001290202.1|8|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr546Ala/c.1636A>G|994|SEZ6|protein_coding|CODING|NM_178860.4|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4366,0.317,0.2525,0.31,0.43,0.25,,0.000180(N),0.000(P),"-0.06,-0.06(T,T)",0.0000(T),0.131,1.848110,5.07,5.07,-0.215000,1.281000,5.780000,0.752000,0.865000,1.000000,11.8833
synonymous_variant,TAOK1,SILENT,NM_020791.2:p.Ala521Ala/c.1563C>T,gcC/gcT,LOW,,0.829872,0.7768,rs508706,,,,,,chr17,27835138,27835138,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala521Ala/c.1563C>T|1001|TAOK1|protein_coding|CODING|NM_020791.2|14|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala521Ala/c.1563C>T|853|TAOK1|protein_coding|CODING|NM_025142.1|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7546,0.8674,0.8777,0.87,0.88,0.87,,,,,,,,,,,,,,,,
synonymous_variant,TAOK1,SILENT,NM_020791.2:p.Thr978Thr/c.2934G>A,acG/acA,LOW,,0.270966,0.0317,rs507577,,,,,,chr17,27869968,27869968,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr978Thr/c.2934G>A|1001|TAOK1|protein_coding|CODING|NM_020791.2|20|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr830Thr/c.2490G>A|853|TAOK1|protein_coding|CODING|NM_025142.1|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3446,0.4135,0.4592,0.39,0.23,0.47,,,,,,,,,,,,,,,,
missense_variant,ABHD15,MISSENSE,NM_198147.2:p.Thr334Ala/c.1000A>G,Acc/Gcc,MODERATE,COSM3755369(1),0.767971,0.8998,rs542939,0.37(T),0.028(B),-0.46(N),-1.0651(T),,chr17,27889986,27889986,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr334Ala/c.1000A>G|468|ABHD15|protein_coding|CODING|NM_198147.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H2BK5me1,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7699,0.6585,0.6531,0.69,0.77,0.66,,0.081795(N),0.997(P),2.84(T),0.0000(T),0.063,1.001241,5.92,2.57,0.533000,0.510000,0.092000,0.997000,0.994000,0.040000,7.8137
synonymous_variant,GIT1,SILENT,NM_001085454.1:p.Ala320Ala/c.960C>T,gcC/gcT,LOW,COSM3766058(1),0.385982,0.6845,rs11080105,,,,,,chr17,27904711,27904711,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala320Ala/c.960C>T|770|GIT1|protein_coding|CODING|NM_001085454.1|11|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala311Ala/c.933C>T|761|GIT1|protein_coding|CODING|NM_014030.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4642,0.3876,0.4284,0.33,0.13,0.43,,,,,,,,,,,,,,,,
missense_variant,SSH2,MISSENSE,NM_001282129.1:p.Ser770Leu/c.2309C>T,tCg/tTg,MODERATE,,0.184704,0.0764,rs2289629,0.1(T),"0.028,0.013(B,B)",2.045(M),-1.0670(T),,chr17,27959903,27959903,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser770Leu/c.2309C>T|1450|SSH2|protein_coding|CODING|NM_001282129.1|16|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser743Leu/c.2228C>T|1423|SSH2|protein_coding|CODING|NM_033389.3|15|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1697,0.2983,0.335,0.27,0.15,0.33,,0.053336(N),0.000(P),"0.56,0.56(T,T)",0.0000(T),0.163,2.653224,6.08,4.1,-0.940000,0.907000,3.615000,0.923000,1.000000,1.000000,17.9574
missense_variant,EFCAB5,MISSENSE,NM_198529.3:p.Ile278Lys/c.833T>A,aTa/aAa,MODERATE,,0.98742,1,rs4795524,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",,-0.9212(T),,chr17,28320248,28320248,T,A,hom,"missense_variant(MODERATE|MISSENSE|aTa/aAa|p.Ile222Lys/c.665T>A|856|EFCAB5|protein_coding|CODING|NM_001145053.1|5|1),missense_variant(MODERATE|MISSENSE|aTa/aAa|p.Ile278Lys/c.833T>A|1503|EFCAB5|protein_coding|CODING|NM_198529.3|5|1),non_coding_exon_variant(MODIFIER|||n.1025T>A||EFCAB5||CODING|NR_026738.1|5|1)",,,,,0.9959,0.9697,0.9632,0.98,1.00,0.97,,0.000074(N),0.000(P),"1.37,1.37,1.37,1.37,1.37,1.37(T,T,T,T,T,T)",0.0000(T),0.261,-1.402190,5.26,5.26,-0.257000,1.017000,2.475000,0.008000,0.628000,0.997000,8.4693
synonymous_variant,EFCAB5,SILENT,NM_198529.3:p.Thr723Thr/c.2169C>G,acC/acG,LOW,COSM4000081(2),0.570887,0.2917,rs4074170,,,,,,chr17,28381141,28381141,C,G,hom,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr667Thr/c.2001C>G|856|EFCAB5|protein_coding|CODING|NM_001145053.1|10|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr723Thr/c.2169C>G|1503|EFCAB5|protein_coding|CODING|NM_198529.3|10|1),non_coding_exon_variant(MODIFIER|||n.2361C>G||EFCAB5||CODING|NR_026738.1|10|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4489,0.4669,0.5656,0.64,0.86,0.54,,,,,,,,,,,,,,,,
synonymous_variant,EFCAB5,SILENT,NM_198529.3:p.Gly1101Gly/c.3303T>G,ggT/ggG,LOW,COSM4000083(1),0.570687,0.2897,rs7221743,,,,,,chr17,28407876,28407876,T,G,hom,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly1101Gly/c.3303T>G|1503|EFCAB5|protein_coding|CODING|NM_198529.3|17|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4397,0.4669,0.5656,0.65,0.87,0.54,,,,,,,,,,,,,,,,
missense_variant,BLMH,MISSENSE,NM_000386.3:p.Ile443Val/c.1327A>G,Atc/Gtc,MODERATE,COSM3755373(1),0.253794,0.1736,rs1050565,1(T),"0.0,0.0(B,B)",-2.105(N),-0.9287(T),,chr17,28576076,28576076,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile443Val/c.1327A>G|455|BLMH|protein_coding|CODING|NM_000386.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000007670.1,,0.2474,0.3746,0.329,0.29,0.21,0.32,,0.034224(N),1.000(P),"1.06,1.06(T,T)",0.0000(T),0.063,-0.850369,5.83,1.54,-1.125000,0.080000,1.148000,0.957000,0.649000,0.494000,9.4628
synonymous_variant,BLMH,SILENT,NM_000386.3:p.Thr201Thr/c.603C>G,acC/acG,LOW,COSM3755374(1),0.26877,0.1746,rs7342921,,,,,,chr17,28612448,28612448,G,C,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr201Thr/c.603C>G|455|BLMH|protein_coding|CODING|NM_000386.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2464,0.3746,0.329,0.30,0.26,0.32,,,,,,,,,,,,,,,,
missense_variant,ATAD5,MISSENSE,NM_024857.3:p.Glu135Gly/c.404A>G,gAa/gGa,MODERATE,,0.151558,0.001,rs11080134,0.18(T),"0.647,0.444(P,B)",1.735(L),-1.0328(T),,chr17,29161503,29161503,A,G,het,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu135Gly/c.404A>G|1844|ATAD5|protein_coding|CODING|NM_024857.3|2|1),"HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2",,,,0.1636,0.2594,0.327,0.26,0.11,0.34,,0.007499(N),0.201(P),2.21(T),0.0000(T),0.232,0.478550,5.35,4.24,0.533000,1.067000,1.536000,0.400000,0.997000,1.000000,6.6781
synonymous_variant,NF1,SILENT,NM_001042492.2:p.Leu234Leu/c.702G>A,ctG/ctA,LOW,COSM3755377(1),0.511781,0.5506,rs1801052,,,,,,chr17,29508775,29508775,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu234Leu/c.702G>A|2818|NF1|protein_coding|CODING|NM_000267.3|7|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu234Leu/c.702G>A|2839|NF1|protein_coding|CODING|NM_001042492.2|7|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu234Leu/c.702G>A|593|NF1|protein_coding|CODING|NM_001128147.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6299,0.5288,0.7157,0.57,0.31,0.71,,,,,,,,,,,,,,,,
synonymous_variant,EVI2A,SILENT,NM_001003927.2:p.Ser23Ser/c.69C>T,agC/agT,LOW,COSM4000091(1),0.591853,0.4474,rs1129506,,,,,,chr17,29646032,29646032,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser23Ser/c.69C>T|259|EVI2A|protein_coding|CODING|NM_001003927.2|3|1),5_prime_UTR_variant(MODIFIER||1|c.-1C>T|236|EVI2A|protein_coding|CODING|NM_014210.3|2|1),intron_variant(MODIFIER|||c.4773-6806G>A|2818|NF1|protein_coding|CODING|NM_000267.3|35|1),intron_variant(MODIFIER|||c.4836-6806G>A|2839|NF1|protein_coding|CODING|NM_001042492.2|36|1)","HMEC:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,GM12878:H3K27ac,HSMM:H3K36me3,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,CD4:H2AK9ac,GM06990:H3K4me3,NH-A:H3K27ac,CD4:H3K36ac,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,CD4:H2BK120ac,GM12878:H3K9ac,CD4:H3K9ac,GM12878:H3K4me2",,,,0.6186,0.4625,0.6372,0.67,0.72,0.64,,,,,,,,,,,,,,,,
synonymous_variant,RAB11FIP4,SILENT,NM_032932.3:p.Ala590Ala/c.1770G>A,gcG/gcA,LOW,COSM3755381(2),0.091254,0.0833,rs61731602,,,,,,chr17,29857460,29857460,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala590Ala/c.1770G>A|637|RAB11FIP4|protein_coding|CODING|NM_032932.3|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.045,0.2003,0.174,0.12,0.03,0.16,,,,,,,,,,,,,,,,
missense_variant,COPRS,MISSENSE,NM_018405.3:p.Ser43Gly/c.127A>G,Agt/Ggt,MODERATE,,0.903954,0.8681,rs8068049,1(T),0.0(B),-0.145(N),-0.9900(T),,chr17,30183857,30183857,T,C,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser43Gly/c.127A>G|184|COPRS|protein_coding|CODING|NM_018405.3|2|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9008,0.8314,0.8728,0.91,0.97,0.88,,0.754784(N),1.000(P),"1.19,1.19(T,T)",0.0000(T),0.02,-1.287114,3.6,-7.21,-2.424000,-2.071000,-3.028000,0.000000,0.000000,0.000000,2.4836
missense_variant,UTP6,MISSENSE,NM_018428.2:p.Gln69Arg/c.206A>G,cAg/cGg,MODERATE,,0.355431,0.6458,rs3760454,1(T),0.029(B),-1.135(N),-0.9875(T),,chr17,30222002,30222002,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln69Arg/c.206A>G|597|UTP6|protein_coding|CODING|NM_018428.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4243,0.3242,0.4523,0.33,0.09,0.45,,0.000108(D),0.214(P),1.65(T),0.0000(T),0.06,1.603617,5.31,5.31,0.533000,2.118000,4.609000,0.716000,0.999000,1.000000,13.7773
synonymous_variant,TMEM98,SILENT,NM_001033504.1:p.Asp65Asp/c.195C>T,gaC/gaT,LOW,COSM3755385(1),0.0601038,0,rs29019,,,,,,chr17,31260255,31260255,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp65Asp/c.195C>T|226|TMEM98|protein_coding|CODING|NM_001033504.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp65Asp/c.195C>T|226|TMEM98|protein_coding|CODING|NM_015544.2|4|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.0429,0.1124,0.0785,0.09,0.08,0.09,,,,,,,,,,,,,,,,
synonymous_variant,ASIC2,SILENT,NM_001094.4:p.Asn105Asn/c.315T>C,aaT/aaC,LOW,COSM4129838(1),0.272165,0.3552,rs2228990,,,,,,chr17,32483237,32483237,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn105Asn/c.315T>C|512|ASIC2|protein_coding|CODING|NM_001094.4|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3057,0.3674,0.2018,0.19,0.18,0.19,,,,,,,,,,,,,,,,
synonymous_variant,ASIC2,SILENT,NM_001094.4:p.Leu94Leu/c.282G>C,ctG/ctC,LOW,COSM4129839(1),0.232228,0.3532,rs2228989,,,,,,chr17,32483270,32483270,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu94Leu/c.282G>C|512|ASIC2|protein_coding|CODING|NM_001094.4|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3057,0.3573,0.2008,0.15,0.06,0.19,,,,,,,,,,,,,,,,
synonymous_variant,CCL2,SILENT,NM_002982.3:p.Cys35Cys/c.105T>C,tgT/tgC,LOW,,0.542332,0.5456,rs4586,,,,,,chr17,32583269,32583269,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys35Cys/c.105T>C|99|CCL2|protein_coding|CODING|NM_002982.3|2|1),"GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,NH-A:H3K4me3,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.4427,0.5778,0.3897,0.46,0.67,0.36,,,,,,,,,,,,,,,,
missense_variant,CCL11,MISSENSE,NM_002986.2:p.Ala23Thr/c.67G>A,Gct/Act,MODERATE,COSM4000094(2),0.144369,0.1974,rs1129844,0.1(T),0.112(B),,-0.8969(T),,chr17,32612894,32612894,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala23Thr/c.67G>A|97|CCL11|protein_coding|CODING|NM_002986.2|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1503,0.1369,0.17,0.15,0.09,0.18,,0.248132(N),1.000(P),4.15(T),0.0000(T),0.074,1.621023,4.48,-1.52,-1.871000,-0.280000,0.232000,0.069000,0.536000,0.027000,5.8131
missense_variant,C17orf102,MISSENSE,NM_207454.2:p.Arg155Lys/c.464G>A,aGg/aAg,MODERATE,,0.796526,0.7778,rs887230,0(D),0.0(B),-0.55(N),-1.0482(T),,chr17,32904586,32904586,C,T,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg155Lys/c.464G>A|167|C17orf102|protein_coding|CODING|NM_207454.2|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6892,0.7997,0.834,0.86,0.87,0.85,,,1.000(P),1.19(T),0.0000(T),0.005,0.337677,3.17,0.846,-0.254000,-0.129000,-0.063000,0.003000,0.000000,0.000000,3.2468
missense_variant,CCT6B,MISSENSE,NM_006584.3:p.Gly247Ala/c.740G>C,gGt/gCt,MODERATE,,0.243211,0.2639,rs2230553,0.03(D),"0.276,0.303,0.458(B,B,P)",3.255(M),-1.0743(T),,chr17,33269648,33269648,C,G,het,"missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly210Ala/c.629G>C|493|CCT6B|protein_coding|CODING|NM_001193529.1|6|1),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly202Ala/c.605G>C|485|CCT6B|protein_coding|CODING|NM_001193530.1|6|1),missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly247Ala/c.740G>C|530|CCT6B|protein_coding|CODING|NM_006584.3|7|1)",HUVEC:H3K27me3,,,,0.2566,0.1859,0.3728,0.30,0.17,0.37,,0.000000(D),0.000(P),"-0.27,-0.27,-0.27(T,T,T)",0.0000(T),0.211,3.244978,4.06,4.06,0.591000,2.220000,7.019000,0.669000,1.000000,1.000000,14.0935
missense_variant,CCT6B,MISSENSE,NM_006584.3:p.Arg17Gln/c.50G>A,cGg/cAg,MODERATE,COSM436375(3),0.548722,0.8353,rs9635769,0.39(T),"0.0,0.0,0.0(B,B,B)",-0.06(N),-1.0786(T),,chr17,33288363,33288363,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg17Gln/c.50G>A|493|CCT6B|protein_coding|CODING|NM_001193529.1|1|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg17Gln/c.50G>A|485|CCT6B|protein_coding|CODING|NM_001193530.1|1|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg17Gln/c.50G>A|530|CCT6B|protein_coding|CODING|NM_006584.3|1|1),upstream_gene_variant(MODIFIER||186||372|ZNF830|protein_coding|CODING|NM_052857.3||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:H4K16ac,NHEK:H3K27ac,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,CD4:MOF,HUVEC:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:GTF2B,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,CD4:H2BK12ac,IMR90:H4K8ac",,,,0.6268,0.4813,0.5696,0.49,0.32,0.58,,0.000060(N),1.000(P),"2.79,2.79,2.79(T,T,T)",0.0000(T),0.026,-0.138708,5.23,0.553,-0.254000,-0.266000,1.629000,0.350000,0.994000,1.000000,9.5733
missense_variant,ZNF830,MISSENSE,NM_052857.3:p.His99Gln/c.297T>G,caT/caG,MODERATE,COSM3724344(2),0.881989,0.9286,rs931196,1(T),0.0(B),-0.695(N),-0.9831(T),,chr17,33288882,33288882,T,G,hom,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His99Gln/c.297T>G|372|ZNF830|protein_coding|CODING|NM_052857.3|1|1),upstream_gene_variant(MODIFIER||354||493|CCT6B|protein_coding|CODING|NM_001193529.1||1),upstream_gene_variant(MODIFIER||354||485|CCT6B|protein_coding|CODING|NM_001193530.1||1),upstream_gene_variant(MODIFIER||354||530|CCT6B|protein_coding|CODING|NM_006584.3||1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.9438,0.9712,0.9781,0.89,0.71,0.98,,0.094856(N),1.000(P),2.64(T),0.0000(T),0.027,-1.216808,5.45,2.27,-0.121000,0.418000,0.196000,0.006000,0.000000,0.001000,7.0731
missense_variant,FNDC8,MISSENSE,NM_017559.2:p.Ser36Pro/c.106T>C,Tca/Cca,MODERATE,,0.840256,0.9137,rs1871892,1(T),0.0(B),-0.805(N),-0.9876(T),,chr17,33448818,33448818,T,C,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser36Pro/c.106T>C|324|FNDC8|protein_coding|CODING|NM_017559.2|1|1),upstream_gene_variant(MODIFIER||1930||348|RAD51D|protein_coding|CODING|NM_001142571.1||1),upstream_gene_variant(MODIFIER||1930||328|RAD51D|protein_coding|CODING|NM_002878.3||1),upstream_gene_variant(MODIFIER||1930||216|RAD51D|protein_coding|CODING|NM_133629.2||1),upstream_gene_variant(MODIFIER||1930|||RAD51D||CODING|NR_037711.1||1),upstream_gene_variant(MODIFIER||1930|||RAD51D||CODING|NR_037712.1||1),upstream_gene_variant(MODIFIER||277|||RAD51L3-RFFL||NON_CODING|NR_037714.1||1)",H1ESC:H3K27me3,,,,0.9008,0.8357,0.6769,0.74,0.86,0.68,,0.777699(N),1.000(P),1.83(T),0.0000(T),0.036,-0.524872,4.61,3.61,-0.298000,0.638000,0.372000,0.871000,0.982000,0.017000,6.5773
synonymous_variant,FNDC8,SILENT,NM_017559.2:p.Thr188Thr/c.564C>A,acC/acA,LOW,,0.444489,0.7123,rs2306508,,,,,,chr17,33454415,33454415,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr188Thr/c.564C>A|324|FNDC8|protein_coding|CODING|NM_017559.2|2|1),"IMR90:H2BK120ac,IMR90:H4K5ac,H1ESC:H3K27me3,IMR90:H3K4me1,IMR90:H3K27ac,IMR90:H4K91ac,IMR90:H3K18ac",,,,0.5665,0.5447,0.4354,0.33,0.16,0.42,,,,,,,,,,,,,,,,
missense_variant,NLE1,MISSENSE,NM_018096.4:p.Arg169Lys/c.506G>A,aGg/aAg,MODERATE,,0.848842,0.9137,rs7215209,1(T),0.001(B),-0.71(N),-0.9606(T),,chr17,33464864,33464864,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg169Lys/c.506G>A|485|NLE1|protein_coding|CODING|NM_018096.4|5|1),5_prime_UTR_variant(MODIFIER||1396|c.-371G>A|193|NLE1|protein_coding|CODING|NM_001014445.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8967,0.8602,0.7048,0.77,0.87,0.72,,0.000000(N),0.000(P),1.61(T),0.0000(T),0.037,0.456156,5.02,3.95,-0.332000,0.414000,2.347000,0.992000,1.000000,1.000000,6.4974
missense_variant,NLE1,MISSENSE,NM_018096.4:p.Pro6Ala/c.16C>G,Ccg/Gcg,MODERATE,COSM3755395(6),0.993411,1,rs1471615,0.47(T),0.0(B),0.145(N),-0.9840(T),,chr17,33469279,33469279,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro6Ala/c.16C>G|485|NLE1|protein_coding|CODING|NM_018096.4|1|1),splice_region_variant(LOW|||c.16C>G|485|NLE1|protein_coding|CODING|NM_018096.4|1|1),upstream_gene_variant(MODIFIER||9||193|NLE1|protein_coding|CODING|NM_001014445.2||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,K562:ETS1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,K562:SP2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,CD4:H3K4me3,HepG2:USF1,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,K562:Cmyc,K562:CTCFL,HMEC:CTCF,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,NH-A:CTCF,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.998,0.9957,0.9742,0.99,0.99,0.98,,,1.000(P),0.51(T),0.0000(T),0.021,2.088081,4.34,3.37,-0.187000,1.193000,0.511000,0.119000,0.010000,0.001000,5.5414
missense_variant,UNC45B,MISSENSE,NM_173167.2:p.Thr44Met/c.131C>T,aCg/aTg,MODERATE,,,,,0(D),"0.949,0.264,0.624(D,B,P)",1.475(L),-0.6023(T),,chr17,33475413,33475413,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr44Met/c.131C>T|929|UNC45B|protein_coding|CODING|NM_001033576.1|2|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr44Met/c.131C>T|931|UNC45B|protein_coding|CODING|NM_173167.2|2|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr44Met/c.131C>T|929|UNC45B|protein_coding|CODING|NM_001267052.1|2|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.006106(N),1.000(N),"-0.82,-0.82,-0.82,-0.82(T,T,T,T)",0.4115(T),0.367,2.548274,4.81,2.83,-0.251000,0.647000,4.727000,0.508000,0.193000,0.997000,6.1452
missense_variant,UNC45B,MISSENSE,NM_173167.2:p.Ile852Asn/c.2555T>A,aTc/aAc,MODERATE,COSM3755396(1),0.033746,0,rs11654824,0(D),"0.997,0.999,0.496(D,D,P)",2.305(M),-0.9588(T),,chr17,33513337,33513337,T,A,het,"missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile850Asn/c.2549T>A|929|UNC45B|protein_coding|CODING|NM_001033576.1|20|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile850Asn/c.2549T>A|929|UNC45B|protein_coding|CODING|NM_001267052.1|20|1),missense_variant(MODERATE|MISSENSE|aTc/aAc|p.Ile852Asn/c.2555T>A|931|UNC45B|protein_coding|CODING|NM_173167.2|20|1)","GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0501,0.0317,0.0905,0.05,0.01,0.07,,0.000000(D),0.000(P),"0.7,1.45,0.7(T,T,T)",0.0102(T),0.575,3.516186,6.02,6.02,0.533000,2.311000,7.886000,0.992000,0.958000,1.000000,15.7258
missense_variant,SLFN5,MISSENSE,NM_144975.3:p.Pro787Leu/c.2360C>T,cCg/cTg,MODERATE,COSM3755399(2),0.210463,0.0744,rs11651240,0.04(D),0.178(B),2.285(M),-0.9967(T),,chr17,33592591,33592591,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro787Leu/c.2360C>T|891|SLFN5|protein_coding|CODING|NM_144975.3|5|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.2594,0.4751,0.34,0.12,0.45,,0.056868(N),1.000(P),-1.67(D),0.0000(T),0.12,2.322746,3.28,2.29,0.655000,0.710000,0.314000,0.417000,0.149000,0.000000,6.4697
synonymous_variant,SLFN11,SILENT,NM_001104587.1:p.Gln479Gln/c.1437A>G,caA/caG,LOW,,,,rs28571667,,,,,,chr17,33680840,33680840,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln479Gln/c.1437A>G|901|SLFN11|protein_coding|CODING|NM_001104587.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln479Gln/c.1437A>G|901|SLFN11|protein_coding|CODING|NM_001104588.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln479Gln/c.1437A>G|901|SLFN11|protein_coding|CODING|NM_001104589.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln479Gln/c.1437A>G|901|SLFN11|protein_coding|CODING|NM_001104590.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln479Gln/c.1437A>G|901|SLFN11|protein_coding|CODING|NM_152270.3|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SLFN11,MISSENSE,NM_001104587.1:p.Asn301Asp/c.901A>G,Aat/Gat,MODERATE,,0.961462,0.9653,rs4796077,1(T),0.0(B),-0.235(N),-0.9505(T),,chr17,33689926,33689926,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn301Asp/c.901A>G|901|SLFN11|protein_coding|CODING|NM_001104587.1|4|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn301Asp/c.901A>G|901|SLFN11|protein_coding|CODING|NM_001104588.1|4|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn301Asp/c.901A>G|901|SLFN11|protein_coding|CODING|NM_001104589.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn301Asp/c.901A>G|901|SLFN11|protein_coding|CODING|NM_001104590.1|4|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn301Asp/c.901A>G|901|SLFN11|protein_coding|CODING|NM_152270.3|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.9438,0.987,0.9722,0.96,0.95,0.97,,0.111612(N),1.000(P),"0.12,0.12(T,T)",0.0000(T),0.014,-1.154143,4.32,1.27,-0.724000,-0.075000,-1.815000,0.001000,0.000000,0.000000,6.6464
missense_variant,SLFN11,MISSENSE,NM_001104587.1:p.Val121Phe/c.361G>T,Gtc/Ttc,MODERATE,,0.416134,0.4821,rs12453150,0.77(T),0.002(B),0.46(N),-0.9229(T),,chr17,33690466,33690466,C,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val121Phe/c.361G>T|901|SLFN11|protein_coding|CODING|NM_001104587.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val121Phe/c.361G>T|901|SLFN11|protein_coding|CODING|NM_001104588.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val121Phe/c.361G>T|901|SLFN11|protein_coding|CODING|NM_001104589.1|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val121Phe/c.361G>T|901|SLFN11|protein_coding|CODING|NM_001104590.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val121Phe/c.361G>T|901|SLFN11|protein_coding|CODING|NM_152270.3|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.4857,0.5202,0.5547,0.44,0.23,0.55,,0.005654(N),1.000(P),"4.52,4.52(T,T)",0.0000(T),0.029,0.538262,4.18,-8.36,-0.150000,-3.775000,-1.838000,0.024000,0.000000,0.000000,1.5129
missense_variant,SLFN11,MISSENSE,NM_001104587.1:p.Pro70Thr/c.208C>A,Ccc/Acc,MODERATE,COSM3755400(1),0.086861,0.001,rs72825958,0.43(T),0.006(B),2.005(M),-1.0459(T),,chr17,33690619,33690619,G,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro70Thr/c.208C>A|901|SLFN11|protein_coding|CODING|NM_001104587.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro70Thr/c.208C>A|901|SLFN11|protein_coding|CODING|NM_001104588.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro70Thr/c.208C>A|901|SLFN11|protein_coding|CODING|NM_001104589.1|3|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro70Thr/c.208C>A|901|SLFN11|protein_coding|CODING|NM_001104590.1|4|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro70Thr/c.208C>A|901|SLFN11|protein_coding|CODING|NM_152270.3|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.0491,0.0965,0.172,0.15,0.12,0.17,,0.092676(N),1.000(P),"4.58,4.58,1.97,2.31,1.97(T,T,T,T,T)",0.0001(T),0.208,0.729570,3.67,1.41,0.655000,0.869000,0.264000,0.008000,0.001000,0.002000,5.7866
missense_variant,SLFN12,MISSENSE,NM_001289009.1:p.Cys168Arg/c.502T>C,Tgt/Cgt,MODERATE,,0.589856,0.4504,rs2586514,0.37(T),0.0(B),1.795(L),-0.9761(T),,chr17,33749546,33749546,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys168Arg/c.502T>C|578|SLFN12|protein_coding|CODING|NM_001289009.1|2|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys168Arg/c.502T>C|578|SLFN12|protein_coding|CODING|NM_018042.4|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6493,0.6354,0.5905,0.61,0.63,0.60,,,1.000(P),"3.92,3.92,3.92(T,T,T)",0.0000(T),0.042,-0.135420,3.23,-6.47,-1.786000,-2.103000,-0.790000,0.001000,0.000000,0.000000,1.5985
missense_variant,SLFN12,MISSENSE,NM_001289009.1:p.Ser43Arg/c.129T>G,agT/agG,MODERATE,COSM1179770(1),0.376198,0.3462,rs1849733,0.73(T),0.003(B),0.125(N),-0.9125(T),,chr17,33749919,33749919,A,C,het,"missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser43Arg/c.129T>G|578|SLFN12|protein_coding|CODING|NM_001289009.1|2|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser43Arg/c.129T>G|578|SLFN12|protein_coding|CODING|NM_018042.4|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3231,0.5375,0.4881,0.43,0.33,0.49,,,1.000(P),"3.93,3.93,3.93,2.02,1.6(T,T,T,T,T)",0.0000(T),0.257,-0.406307,3.2,-6.41,0.358000,-0.829000,-2.082000,0.155000,0.000000,0.000000,3.679
missense_variant,SLFN14,MISSENSE,NM_001129820.1:p.Lys385Glu/c.1153A>G,Aaa/Gaa,MODERATE,,0.627196,0.6885,rs321612,1(T),0.0(B),-1.935(N),-0.9369(T),,chr17,33881631,33881631,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys385Glu/c.1153A>G|912|SLFN14|protein_coding|CODING|NM_001129820.1|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.6556,0.5805,0.63,0.69,0.60,,,1.000(P),0.54(T),0.0000(T),0.054,-1.728039,4.88,1.51,-0.128000,0.336000,0.169000,0.003000,0.902000,0.015000,5.1052
missense_variant,SLFN14,MISSENSE,NM_001129820.1:p.Pro356Ser/c.1066C>T,Ccc/Tcc,MODERATE,COSM4129854(1),0.627396,0.6895,rs321613,1(T),0.0(B),-1.32(N),-0.9332(T),,chr17,33881718,33881718,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro356Ser/c.1066C>T|912|SLFN14|protein_coding|CODING|NM_001129820.1|2|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.6556,0.5805,0.63,0.69,0.60,,,1.000(P),0.34(T),0.0000(T),0.042,-0.445528,4.75,1.39,-0.361000,0.098000,0.427000,0.176000,0.001000,0.009000,7.0888
synonymous_variant,AP2B1,SILENT,NM_001030006.1:p.Val687Val/c.2061G>C,gtG/gtC,LOW,COSM3755407(3),0.471046,0.5317,rs1049379,,,,,,chr17,33998802,33998802,G,C,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val687Val/c.2061G>C|951|AP2B1|protein_coding|CODING|NM_001030006.1|16|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val673Val/c.2019G>C|937|AP2B1|protein_coding|CODING|NM_001282.2|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4151,0.4798,0.4672,0.49,0.49,0.49,,,,,,,,,,,,,,,,
missense_variant,CCL16,MISSENSE,NM_004590.2:p.Gln120His/c.360G>T,caG/caT,MODERATE,,0.071885,0.0427,rs79254649,0(D),0.133(B),0(N),-0.9267(T),,chr17,34304605,34304605,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln120His/c.360G>T|120|CCL16|protein_coding|CODING|NM_004590.2|3|1),"GM12878:H3K36me3,GM12878:SP1,HepG2:H3K36me3,GM12878:PU1",,,,0.1554,0.0303,0.0268,0.04,0.07,0.02,,,1.000(N),4.01(T),0.0002(T),0.267,-1.174693,4.38,-8.76,-0.367000,-2.119000,-2.843000,0.022000,0.001000,0.000000,5.6985
synonymous_variant,CCL16,SILENT,NM_004590.2:p.Leu95Leu/c.285G>A,ttG/ttA,LOW,COSM3755413(1),0.0714856,0.0427,rs74842203,,,,,,chr17,34304680,34304680,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu95Leu/c.285G>A|120|CCL16|protein_coding|CODING|NM_004590.2|3|1),"GM12878:H3K36me3,GM12878:SP1,HepG2:H3K36me3,GM12878:PU1",,,,0.1554,0.0303,0.0268,0.04,0.07,0.02,,,,,,,,,,,,,,,,
missense_variant,CCL15,MISSENSE,NM_032965.5:p.Ile24Thr/c.71T>C,aTa/aCa,MODERATE,,0.749002,0.6339,rs854625,0.6(T),0.0(B),-0.345(N),-0.9943(T),,chr17,34328461,34328461,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile24Thr/c.71T>C|113|CCL15|protein_coding|CODING|NM_032965.5|1|1),non_coding_exon_variant(MODIFIER|||n.624T>C||CCL15-CCL14||NON_CODING|NR_027921.3|1|1),non_coding_exon_variant(MODIFIER|||n.624T>C||CCL15-CCL14||NON_CODING|NR_027922.3|1|1)","HepG2:H3K4me2,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,NHEK:H3K27me3,HepG2:HNF4A,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HepG2:H3K27me3",,,,0.7873,0.9078,0.9642,0.83,0.57,0.96,,0.003857(N),1.000(P),3.53(T),0.0000(T),0.089,-2.106246,3.32,-4.81,-1.838000,-1.807000,-3.300000,0.005000,0.000000,0.000000,12.3274
missense_variant,CCL23,MISSENSE,NM_005064.5:p.Val123Met/c.367G>A,Gtg/Atg,MODERATE,,0.520767,0.5744,rs1003645,1(T),"0.015,0.003(B,B)",-0.965(N),-1.0062(T),,chr17,34340284,34340284,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val123Met/c.367G>A|137|CCL23|protein_coding|CODING|NM_005064.5|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val106Met/c.316G>A|120|CCL23|protein_coding|CODING|NM_145898.3|4|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.5941,0.719,0.8062,0.61,0.20,0.81,,0.426020(N),1.000(P),3.68(T),0.0000(T),0.072,-0.793645,3.71,-0.245,-0.443000,-0.566000,-0.206000,0.003000,0.015000,0.099000,4.3408
synonymous_variant,CCL4,SILENT,NM_002984.2:p.Thr39Thr/c.117T>C,acT/acC,LOW,,0.91274,0.7768,rs1719146,,,,,,chr17,34431961,34431961,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr39Thr/c.117T>C|92|CCL4|protein_coding|CODING|NM_002984.2|2|1),"HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9703,0.9683,0.998,,,,,,,,,,,,,,,,,,,
synonymous_variant,ACACA,SILENT,NM_198834.2:p.Thr2063Thr/c.6189A>G,acA/acG,LOW,,1,1,rs1470452,,,,,,chr17,35478362,35478362,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr2063Thr/c.6189A>G|2383|ACACA|protein_coding|CODING|NM_198834.2|50|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr2026Thr/c.6078A>G|2346|ACACA|protein_coding|CODING|NM_198836.2|50|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1968Thr/c.5904A>G|2288|ACACA|protein_coding|CODING|NM_198837.1|48|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1948Thr/c.5844A>G|2268|ACACA|protein_coding|CODING|NM_198838.1|49|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr2026Thr/c.6078A>G|2346|ACACA|protein_coding|CODING|NM_198839.2|54|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ACACA,SILENT,NM_198834.2:p.Phe15Phe/c.45C>T,ttC/ttT,LOW,COSM1742676(2),0.585463,0.6915,rs58654829,,,,,,chr17,35696804,35696804,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe15Phe/c.45C>T|2383|ACACA|protein_coding|CODING|NM_198834.2|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||2346|ACACA|protein_coding|CODING|NM_198836.2|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||2346|ACACA|protein_coding|CODING|NM_198839.2|6|1),5_prime_UTR_variant(MODIFIER||9465|c.-67C>T|2346|ACACA|protein_coding|CODING|NM_198836.2|2|1),5_prime_UTR_variant(MODIFIER||9465|c.-67C>T|2346|ACACA|protein_coding|CODING|NM_198839.2|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7249,0.5245,0.8101,0.65,0.33,0.80,,,,,,,,,,,,,,,,
missense_variant,C17orf78,MISSENSE,NM_173625.3:p.Thr152Ser/c.455C>G,aCt/aGt,MODERATE,COSM148253(2),0.316294,0.5377,rs1714987,0.33(T),0.015(B),0.975(L),-0.9167(T),,chr17,35743010,35743010,C,G,het,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr152Ser/c.455C>G|275|C17orf78|protein_coding|CODING|NM_173625.3|4|1),intron_variant(MODIFIER|||c.38+23342G>C|2383|ACACA|protein_coding|CODING|NM_198834.2|1|1),intron_variant(MODIFIER|||c.-747-16580G>C|2346|ACACA|protein_coding|CODING|NM_198839.2|1|1)",,,,,0.3497,0.2493,0.1918,0.20,0.24,0.18,,0.350483(N),1.000(P),0.82(T),0.0000(T),0.034,0.940004,4.94,1.87,0.655000,0.375000,-0.114000,0.013000,0.000000,0.000000,7.1964
missense_variant,TADA2A,MISSENSE,NM_001166105.2:p.Pro6Ser/c.16C>T,Ccc/Tcc,MODERATE,,0.854832,0.7391,rs7211875,1(T),"0.0,0.0(B,B)",-0.41(N),-0.9512(T),,chr17,35771468,35771468,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro6Ser/c.16C>T|443|TADA2A|protein_coding|CODING|NM_001166105.2|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro6Ser/c.16C>T|305|TADA2A|protein_coding|CODING|NM_001291918.1|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro6Ser/c.16C>T|443|TADA2A|protein_coding|CODING|NM_001488.4|2|1),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro6Ser/c.16C>T|305|TADA2A|protein_coding|CODING|NM_133439.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8507,0.8761,0.83,0.88,0.93,0.86,,0.000006(N),1.000(P),"2.15,2.15,1.7(T,T,T)",0.0000(T),0.044,-0.048816,4.79,4.79,-0.368000,0.986000,1.970000,0.983000,1.000000,1.000000,7.4762
synonymous_variant,SYNRG,SILENT,NM_007247.5:p.Pro1017Pro/c.3051G>C,ccG/ccC,LOW,COSM4000116(1),0.539936,0.6548,rs3110623,,,,,,chr17,35902225,35902225,C,G,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro894Pro/c.2682G>C|1179|SYNRG|protein_coding|CODING|NM_001163546.2|14|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro811Pro/c.2433G>C|1108|SYNRG|protein_coding|CODING|NM_001163547.2|13|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro939Pro/c.2817G>C|1236|SYNRG|protein_coding|CODING|NM_001163544.2|14|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro938Pro/c.2814G>C|1235|SYNRG|protein_coding|CODING|NM_001163545.2|14|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro1017Pro/c.3051G>C|1314|SYNRG|protein_coding|CODING|NM_007247.5|15|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro939Pro/c.2817G>C|1224|SYNRG|protein_coding|CODING|NM_080550.4|14|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro939Pro/c.2817G>C|1259|SYNRG|protein_coding|CODING|NM_198882.2|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.3775,0.4036,0.42,0.55,0.36,,,,,,,,,,,,,,,,
missense_variant,DDX52,MISSENSE,NM_007010.4:p.Met403Val/c.1207A>G,Atg/Gtg,MODERATE,,0.574481,0.5605,rs7216445,0.18(T),0.009(B),-0.605(N),-1.0975(T),,chr17,35984410,35984410,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met295Val/c.883A>G|491|DDX52|protein_coding|CODING|NM_001291476.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met403Val/c.1207A>G|599|DDX52|protein_coding|CODING|NM_007010.4|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5297,0.7205,0.7604,0.70,0.49,0.80,,0.000000(D),0.001(P),"3.73,3.73(T,T)",0.0000(T),0.296,1.931580,5.8,4.73,-0.263000,1.027000,3.268000,0.983000,1.000000,1.000000,11.0562
synonymous_variant,DDX52,SILENT,NM_007010.4:p.Arg264Arg/c.792G>A,agG/agA,LOW,,0.567891,0.5526,rs7224513,,,,,,chr17,35988672,35988672,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg156Arg/c.468G>A|491|DDX52|protein_coding|CODING|NM_001291476.1|7|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg264Arg/c.792G>A|599|DDX52|protein_coding|CODING|NM_007010.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5184,0.7133,0.7535,0.69,0.48,0.79,,,,,,,,,,,,,,,,
synonymous_variant,SOCS7,SILENT,NM_014598.3:p.Pro86Pro/c.258T>C,ccT/ccC,LOW,COSM3749397(12),0.262979,0.1974,rs41377745,,,,,,chr17,36508385,36508385,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro86Pro/c.258T>C|581|SOCS7|protein_coding|CODING|NM_014598.3|1|1),"K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1534,0.1787,0.1948,0.17,0.28,0.11,,,,,,,,,,,,,,,,
synonymous_variant,ARHGAP23,SILENT,NM_001199417.1:p.Ala1010Ala/c.3030A>G,gcA/gcG,LOW,COSM4129921(1),0.990815,1,rs9891156,,,,,,chr17,36646386,36646386,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1010Ala/c.3030A>G|1491|ARHGAP23|protein_coding|CODING|NM_001199417.1|18|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.9928,0.9769,0.9781,0.98,1.00,0.97,,,,,,,,,,,,,,,,
missense_variant,SRCIN1,MISSENSE,NM_025248.2:p.Arg792Cys/c.2374C>T,Cgc/Tgc,MODERATE,,,,,0(D),"0.999,0.999,0.999,0.998(D,D,D,D)",2.265(M),-0.1906(T),,chr17,36708789,36708789,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg792Cys/c.2374C>T|1183|SRCIN1|protein_coding|CODING|NM_025248.2|13|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),0.14(T),0.3979(T),0.877,4.343508,5.05,5.05,0.561000,2.628000,2.161000,0.988000,0.999000,0.995000,17.3326
missense_variant,C17orf96,MISSENSE,NM_001130677.1:p.Pro97Leu/c.290C>T,cCc/cTc,MODERATE,COSM3755435(2),0.264177,0.0942,rs111565436,0(D),0.06(B),0.345(N),-0.9370(T),,chr17,36830459,36830459,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro97Leu/c.290C>T|379|C17orf96|protein_coding|CODING|NM_001130677.1|1|1),"HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,NHEK:H3K4me2,HSMM:H3K27me3,HeLa-S3:H3K4me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.2403,0.1671,0.1789,,,,,,1.000(P),,0.0000(T),0.093,1.970645,3.57,1.42,0.313000,0.121000,0.571000,0.049000,0.308000,0.001000,6.42
missense_variant,MLLT6,MISSENSE,NM_005937.3:p.Val33Ala/c.98T>C,gTc/gCc,MODERATE,COSM4129924(1),1,1,rs17855918,1(T),"0.002,0.0(B,B)",-2.81(N),-0.9474(T),,chr17,36861983,36861983,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val33Ala/c.98T>C|1093|MLLT6|protein_coding|CODING|NM_005937.3|1|1),"K562:ZBTB7A,K562:H3K4me3,HeLa-S3:DNase1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,0.000001(N),1.000(P),"-2.15,-2.15(D,D)",0.0000(T),0.144,0.091752,3.32,2.34,-0.971000,0.247000,4.890000,0.545000,0.817000,1.000000,7.306
synonymous_variant,PCGF2,SILENT,NM_007144.2:p.Asp145Asp/c.435C>T,gaC/gaT,LOW,COSM3755439(3),0.433706,0.2758,rs1138349,,,,,,chr17,36894839,36894839,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp145Asp/c.435C>T|344|PCGF2|protein_coding|CODING|NM_007144.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5072,0.4179,0.4284,0.48,0.52,0.46,,,,,,,,,,,,,,,,
synonymous_variant,LASP1,SILENT,NM_006148.3:p.Ser146Ser/c.438A>G,tcA/tcG,LOW,COSM436474(5),0.676717,0.5933,rs525989,,,,,,chr17,37070658,37070658,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser90Ser/c.270A>G|205|LASP1|protein_coding|CODING|NM_001271608.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser146Ser/c.438A>G|261|LASP1|protein_coding|CODING|NM_006148.3|5|1),upstream_gene_variant(MODIFIER||574|||MIR6779||NON_CODING|NR_106837.1||1),non_coding_exon_variant(MODIFIER|||n.939A>G||LASP1||CODING|NR_073384.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.5562,0.5519,0.6471,0.73,0.86,0.66,,,,,,,,,,,,,,,,
missense_variant,FBXO47,MISSENSE,NM_001008777.2:p.Gln209Arg/c.626A>G,cAa/cGa,MODERATE,,0.972045,1,rs9906595,0.71(T),0.0(B),-1.7(N),-0.9653(T),,chr17,37101380,37101380,T,C,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln209Arg/c.626A>G|452|FBXO47|protein_coding|CODING|NM_001008777.2|7|1),,Obesity_related_traits,,,0.9867,0.9424,0.9155,0.94,0.98,0.92,,0.004213(N),1.000(P),-0.32(T),0.0000(T),0.03,0.124036,5.53,3.53,-0.197000,0.307000,2.045000,0.767000,0.786000,0.992000,8.1824
synonymous_variant,PLXDC1,SILENT,NM_020405.4:p.Tyr280Tyr/c.840T>C,taT/taC,LOW,COSM1162592(1),0.291334,0.3492,rs12602945,,,,,,chr17,37243927,37243927,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr280Tyr/c.840T>C|500|PLXDC1|protein_coding|CODING|NM_020405.4|8|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3569,0.4496,0.3032,0.24,0.14,0.29,,,,,,,,,,,,,,,,
missense_variant,STARD3,MISSENSE,NM_001165937.1:p.Arg117Gln/c.350G>A,cGg/cAg,MODERATE,COSM148258(4),0.46905,0.4157,rs1877031,0.31(T),"0.637,0.183,0.109(P,B,B)",1.245(L),-0.9784(T),,chr17,37814080,37814080,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg117Gln/c.350G>A|445|STARD3|protein_coding|CODING|NM_001165937.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg117Gln/c.350G>A|427|STARD3|protein_coding|CODING|NM_001165938.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg117Gln/c.350G>A|445|STARD3|protein_coding|CODING|NM_006804.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6728,0.5043,0.673,0.51,0.24,0.65,,0.000000(D),0.000(P),"0.94,0.94,0.94,0.94(T,T,T,T)",0.0000(T),0.531,3.168811,4.38,4.38,0.561000,2.125000,3.666000,0.665000,1.000000,0.991000,17.3051
synonymous_variant,STARD3,SILENT,NM_001165937.1:p.Thr246Thr/c.738G>A,acG/acA,LOW,COSM1382854(1),0.028754,0,rs73296109,,,,,,chr17,37815749,37815749,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr246Thr/c.738G>A|445|STARD3|protein_coding|CODING|NM_001165937.1|9|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr228Thr/c.684G>A|427|STARD3|protein_coding|CODING|NM_001165938.1|8|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr246Thr/c.738G>A|445|STARD3|protein_coding|CODING|NM_006804.3|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,,,0.0031,0.0274,0.0437,0.06,0.06,0.06,,,,,,,,,,,,,,,,
synonymous_variant,STARD3,SILENT,NM_001165937.1:p.Val399Val/c.1197T>C,gtT/gtC,LOW,,0.0301518,0,rs2941513,,,,,,chr17,37818561,37818561,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val399Val/c.1197T>C|445|STARD3|protein_coding|CODING|NM_001165937.1|14|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val381Val/c.1143T>C|427|STARD3|protein_coding|CODING|NM_001165938.1|13|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val399Val/c.1197T>C|445|STARD3|protein_coding|CODING|NM_006804.3|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0274,0.0437,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TCAP,SILENT,NM_003673.3:p.Ala151Ala/c.453A>C,gcA/gcC,LOW,COSM436493(6),0.54972,0.4167,rs1053651,,,,,,chr17,37822311,37822311,A,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala151Ala/c.453A>C|167|TCAP|protein_coding|CODING|NM_003673.3|2|1),upstream_gene_variant(MODIFIER||1923|||PNMT||CODING|NR_073461.1||1),downstream_gene_variant(MODIFIER||1857||445|STARD3|protein_coding|CODING|NM_001165937.1||1),downstream_gene_variant(MODIFIER||1857||427|STARD3|protein_coding|CODING|NM_001165938.1||1),downstream_gene_variant(MODIFIER||1857||445|STARD3|protein_coding|CODING|NM_006804.3||1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,CD4:PolII,HepG2:H3K27me3",,RCV000037796.3|RCV000128377.1,,0.68,0.5591,0.7217,0.62,0.43,0.71,,,,,,,,,,,,,,,,
synonymous_variant,PGAP3,SILENT,NM_033419.4:p.Val155Val/c.465T>C,gtT/gtC,LOW,COSM3755445(1),0.577875,0.4067,rs2941504,,,,,,chr17,37830900,37830900,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val104Val/c.312T>C|269|PGAP3|protein_coding|CODING|NM_001291726.1|3|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val155Val/c.465T>C|206|PGAP3|protein_coding|CODING|NM_001291730.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val155Val/c.465T>C|320|PGAP3|protein_coding|CODING|NM_033419.4|4|1),intron_variant(MODIFIER|||c.433-1781T>C|148|PGAP3|protein_coding|CODING|NM_001291733.1|3|1),intron_variant(MODIFIER|||c.433-593T>C|299|PGAP3|protein_coding|CODING|NM_001291728.1|3|1),intron_variant(MODIFIER|||c.433-593T>C|185|PGAP3|protein_coding|CODING|NM_001291732.1|3|1)",,,,,0.6984,0.5548,0.6899,0.66,0.57,0.70,,,,,,,,,,,,,,,,
missense_variant,ERBB2,MISSENSE,NM_004448.3:p.Ile655Val/c.1963A>G,Atc/Gtc,MODERATE,COSM4000121(1),0.121406,0.124,rs1136201,0.39(T),"0.108,0.255,0.108(B,B,B)",0.75(N),-1.0856(T),,chr17,37879588,37879588,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile625Val/c.1873A>G|1225|ERBB2|protein_coding|CODING|NM_001005862.2|20|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile640Val/c.1918A>G|1240|ERBB2|protein_coding|CODING|NM_001289936.1|21|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile655Val/c.1963A>G|1055|ERBB2|protein_coding|CODING|NM_001289937.1|17|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile655Val/c.1963A>G|1255|ERBB2|protein_coding|CODING|NM_004448.3|17|1),non_coding_exon_variant(MODIFIER|||n.2287A>G||ERBB2||CODING|NR_110535.1|17|1)","K562:ZBTB7A,H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,K562:H3K27ac,IMR90:H3K36me3,K562:ELF1,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K4me2,K562:H2AZ,K562:DNase1",,RCV000014887.1|RCV000120744.1,,0.1309,0.1369,0.2455,0.17,0.05,0.23,,,0.000(P),"-1.01,-1.01,-0.99,-1.01,-1.01(T,T,T,T,T)",0.0001(T),0.172,2.306999,4.97,4.97,0.459000,1.880000,4.008000,0.892000,0.995000,1.000000,8.987
missense_variant,ERBB2,MISSENSE,NM_004448.3:p.Pro1170Ala/c.3508C>G,Ccc/Gcc,MODERATE,,0.452077,0.4018,rs1058808,0.03(D),"0.607,0.225,0.473(P,B,P)",2.05(M),-0.8809(T),,chr17,37884037,37884037,C,G,het,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro1140Ala/c.3418C>G|1225|ERBB2|protein_coding|CODING|NM_001005862.2|30|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro1155Ala/c.3463C>G|1240|ERBB2|protein_coding|CODING|NM_001289936.1|31|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro1170Ala/c.3508C>G|1255|ERBB2|protein_coding|CODING|NM_004448.3|27|1),3_prime_UTR_variant(MODIFIER||87|c.*87C>G|1055|ERBB2|protein_coding|CODING|NM_001289937.1|26|1),downstream_gene_variant(MODIFIER||1223|||MIR4728||NON_CODING|NR_039881.2||1),downstream_gene_variant(MODIFIER||1372||115|MIEN1|protein_coding|CODING|NM_032339.3||1),non_coding_exon_variant(MODIFIER|||n.3832C>G||ERBB2||CODING|NR_110535.1|27|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.4784,0.673,0.51,0.23,0.66,,,0.000(P),"-0.81,-0.81,-0.81,-0.81,-0.81(T,T,T,T,T)",0.0000(T),0.26,4.264979,5.04,5.04,0.450000,2.326000,3.926000,0.892000,0.979000,1.000000,18.0073
missense_variant,GRB7,MISSENSE,NM_001242442.1:p.Cys20Arg/c.58T>C,Tgc/Cgc,MODERATE,,0.998602,1,rs2952142,0.26(T),,,-1.0111(T),,chr17,37898543,37898543,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys20Arg/c.58T>C|555|GRB7|protein_coding|CODING|NM_001242442.1|2|1),5_prime_UTR_variant(MODIFIER||12|c.-12T>C|532|GRB7|protein_coding|CODING|NM_001030002.2|2|1),5_prime_UTR_variant(MODIFIER||12|c.-12T>C|532|GRB7|protein_coding|CODING|NM_001242443.1|2|1),5_prime_UTR_variant(MODIFIER||12|c.-12T>C|532|GRB7|protein_coding|CODING|NM_005310.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,1,1,1.00,0.99,1.00,,,1.000(P),1.66(T),0.0000(T),0.014,0.294471,4.17,1.11,-1.183000,-0.120000,-0.384000,0.007000,0.000000,0.000000,6.448
synonymous_variant,IKZF3,SILENT,NM_012481.4:p.Ser438Ser/c.1314C>T,tcC/tcT,LOW,COSM148259(1),0.298722,0.2937,rs907092,,,,-0.8731(T),,chr17,37922259,37922259,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser404Ser/c.1212C>T|475|IKZF3|protein_coding|CODING|NM_001257408.1|7|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser365Ser/c.1095C>T|436|IKZF3|protein_coding|CODING|NM_001257409.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser351Ser/c.1053C>T|422|IKZF3|protein_coding|CODING|NM_001257410.1|7|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser295Ser/c.885C>T|366|IKZF3|protein_coding|CODING|NM_001257411.1|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser256Ser/c.768C>T|327|IKZF3|protein_coding|CODING|NM_001257412.1|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser217Ser/c.651C>T|288|IKZF3|protein_coding|CODING|NM_001257413.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser304Ser/c.912C>T|375|IKZF3|protein_coding|CODING|NM_001257414.1|5|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser191Ser/c.573C>T|262|IKZF3|protein_coding|CODING|NM_001284514.1|9|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser191Ser/c.573C>T|262|IKZF3|protein_coding|CODING|NM_001284515.1|8|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser191Ser/c.573C>T|262|IKZF3|protein_coding|CODING|NM_001284516.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser438Ser/c.1314C>T|509|IKZF3|protein_coding|CODING|NM_012481.4|8|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser382Ser/c.1146C>T|453|IKZF3|protein_coding|CODING|NM_183228.2|7|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser399Ser/c.1197C>T|470|IKZF3|protein_coding|CODING|NM_183229.2|7|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser399Ser/c.1197C>T|470|IKZF3|protein_coding|CODING|NM_183230.2|7|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser343Ser/c.1029C>T|414|IKZF3|protein_coding|CODING|NM_183231.2|6|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser360Ser/c.1080C>T|431|IKZF3|protein_coding|CODING|NM_183232.2|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,CD4:H4K20me1,NH-A:H3K27me3,HMEC:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",Primary_biliary_cirrhosis,,,0.3119,0.3401,0.4732,0.36,0.17,0.45,,,0.000(P),,0.0000(T),.,0.844787,5.72,4.73,0.655000,1.382000,2.032000,0.986000,1.000000,1.000000,9.9806
synonymous_variant,ZPBP2,SILENT,NM_199321.2:p.Leu7Leu/c.19C>T,Cta/Tta,LOW,COSM4129949(1),0.290535,0.2827,rs11557466,,,,,,chr17,38024626,38024626,C,T,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu7Leu/c.19C>T|316|ZPBP2|protein_coding|CODING|NM_198844.2|1|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu7Leu/c.19C>T|338|ZPBP2|protein_coding|CODING|NM_199321.2|1|1)","CD4:H3K18ac,HUVEC:H3K27me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K27me3,GM12878:ELF1,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,CD4:H2BK120ac,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.3129,0.3415,0.4722,0.35,0.15,0.45,,,,,,,,,,,,,,,,
missense_variant,ZPBP2,MISSENSE,NM_199321.2:p.Ser173Ile/c.518G>T,aGt/aTt,MODERATE,,0.379593,0.2817,rs11557467,0.02(D),"0.001,0.266(B,B)",0.345(N),-0.9201(T),,chr17,38028634,38028634,G,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser151Ile/c.452G>T|316|ZPBP2|protein_coding|CODING|NM_198844.2|4|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser173Ile/c.518G>T|338|ZPBP2|protein_coding|CODING|NM_199321.2|5|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.3344,0.3862,0.508,0.43,0.33,0.49,,0.004505(N),0.973(P),"0.57,0.57(T,T)",0.0000(T),0.316,0.151266,5.48,4.4,-0.606000,0.900000,3.003000,0.414000,0.999000,1.000000,8.3724
synonymous_variant,ZPBP2,SILENT,NM_199321.2:p.Cys292Cys/c.876C>T,tgC/tgT,LOW,COSM148260(4),0.290136,0.2827,rs10852935,,,,,,chr17,38031674,38031674,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys270Cys/c.810C>T|316|ZPBP2|protein_coding|CODING|NM_198844.2|6|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys292Cys/c.876C>T|338|ZPBP2|protein_coding|CODING|NM_199321.2|7|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3129,0.3415,0.4722,0.35,0.15,0.45,,,,,,,,,,,,,,,,
missense_variant,GSDMB,MISSENSE,NM_001165958.1:p.Pro311Ser/c.931C>T,Cca/Tca,MODERATE,COSM148261(3),0.286741,0.2817,rs2305480,0.57(T),"0.675,0.087,0.404,0.143,0.087(P,B,B,B,B)",1.155(L),-0.9496(T),,chr17,38062196,38062196,G,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro298Ser/c.892C>T|403|GSDMB|protein_coding|CODING|NM_001042471.1|8|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro311Ser/c.931C>T|416|GSDMB|protein_coding|CODING|NM_001165958.1|9|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro302Ser/c.904C>T|407|GSDMB|protein_coding|CODING|NM_001165959.1|8|1),missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro289Ser/c.865C>T|394|GSDMB|protein_coding|CODING|NM_018530.2|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3","Asthma,Ulcerative_colitis",,,0.3149,0.3357,0.4662,0.34,0.15,0.44,,0.034000(N),1.000(P),"1.6,1.6,1.6,1.6,1.6(T,T,T,T,T)",0.0000(T),0.088,-0.717902,3.8,0.469,-0.466000,0.325000,0.422000,0.002000,0.001000,0.032000,5.491
missense_variant,GSDMB,MISSENSE,NM_001165958.1:p.Gly304Arg/c.910G>A,Ggg/Agg,MODERATE,COSM3927730(2),0.311102,0.2817,rs2305479,0.06(T),"0.995,0.999,0.993,0.013,0.013(D,D,D,B,B)",1.895(L),-0.9691(T),,chr17,38062217,38062217,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly291Arg/c.871G>A|403|GSDMB|protein_coding|CODING|NM_001042471.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly304Arg/c.910G>A|416|GSDMB|protein_coding|CODING|NM_001165958.1|9|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly295Arg/c.883G>A|407|GSDMB|protein_coding|CODING|NM_001165959.1|8|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly282Arg/c.844G>A|394|GSDMB|protein_coding|CODING|NM_018530.2|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3354,0.3646,0.502,0.38,0.18,0.48,,0.849236(N),1.000(P),"1.92,1.92,1.92,1.92,1.92(T,T,T,T,T)",0.0000(T),0.036,2.060971,3.64,-2.46,-2.010000,-0.954000,0.110000,0.000000,0.000000,0.001000,5.3214
splice_acceptor_variant,GSDMB,protein_coding,NM_001165958.1:c.662A>G,,HIGH,COSM148263(3),0.285543,0.2817,rs11078928,,,,,GSDMB:0.50(4);,chr17,38064469,38064469,T,C,het,"splice_acceptor_variant(HIGH|||c.662A>G|416|GSDMB|protein_coding|CODING|NM_001165958.1|6|1),splice_acceptor_variant(HIGH|||c.662A>G|407|GSDMB|protein_coding|CODING|NM_001165959.1|6|1),intron_variant(MODIFIER|||c.661+742A>G|394|GSDMB|protein_coding|CODING|NM_018530.2|4|1),intron_variant(MODIFIER|||c.661+742A>G|403|GSDMB|protein_coding|CODING|NM_001042471.1|5|1),intron_variant(MODIFIER|||c.662-2A>G|416|GSDMB|protein_coding|CODING|NM_001165958.1|5|1),intron_variant(MODIFIER|||c.662-2A>G|407|GSDMB|protein_coding|CODING|NM_001165959.1|5|1)","K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3149,0.3357,0.4652,0.35,0.13,0.44,,,1.000(P),,,.,-0.223260,3.19,2.11,-1.524000,0.144000,0.732000,0.003000,0.001000,0.022000,8.3471
missense_variant,GSDMA,MISSENSE,NM_178171.4:p.Arg18Gln/c.53G>A,cGa/cAa,MODERATE,COSM3755448(1),0.430911,0.5397,rs3894194,0.44(T),0.01(B),1.56(L),-0.9394(T),,chr17,38121993,38121993,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg18Gln/c.53G>A|445|GSDMA|protein_coding|CODING|NM_178171.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",Asthma,,,0.4836,0.5043,0.4463,0.40,0.30,0.46,,0.488832(N),0.941(P),1.94(T),0.0000(T),0.314,2.270656,5.36,3.34,0.462000,1.245000,0.886000,0.934000,1.000000,0.267000,7.6027
missense_variant,GSDMA,MISSENSE,NM_178171.4:p.Val128Leu/c.382G>T,Gtg/Ttg,MODERATE,COSM3755450(1),,,rs7212938,1(T),0.0(B),-2.175(N),-1.0328(T),,chr17,38122680,38122680,G,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val128Leu/c.382G>T|445|GSDMA|protein_coding|CODING|NM_178171.4|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,0.60,0.81,0.50,,0.007345(N),1.000(P),3.01(T),0.0000(T),0.23,1.142349,5.5,-2.32,-0.362000,-0.902000,-0.611000,0.743000,0.027000,0.009000,2.8183
missense_variant,GSDMA,MISSENSE,NM_178171.4:p.Glu130Lys/c.388G>A,Gag/Aag,MODERATE,COSM3755452(1),0.31849,0.38,rs7212944,0.76(T),0.062(B),0.045(N),-0.9138(T),,chr17,38122686,38122686,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu130Lys/c.388G>A|445|GSDMA|protein_coding|CODING|NM_178171.4|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2423,0.2795,0.331,0.33,0.34,0.33,,0.957779(N),0.999(P),2.03(T),0.0000(T),0.175,1.149475,4.97,2.99,0.563000,0.692000,2.671000,0.493000,0.418000,1.000000,7.4073
missense_variant,GSDMA,MISSENSE,NM_178171.4:p.Thr314Asn/c.941C>A,aCc/aAc,MODERATE,COSM3755455(2),0.382788,0.4742,rs56030650,0.34(T),0.637(P),1.79(L),-0.8926(T),,chr17,38131187,38131187,C,A,het,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr314Asn/c.941C>A|445|GSDMA|protein_coding|CODING|NM_178171.4|10|1),"GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3047,0.3847,0.4573,0.43,0.33,0.47,,0.062101(N),0.617(P),1.91(T),0.0000(T),0.098,2.002462,6.03,3.96,0.655000,0.779000,1.437000,0.177000,0.987000,0.996000,13.3157
synonymous_variant,PSMD3,SILENT,NM_002809.3:p.Ser47Ser/c.141G>A,tcG/tcA,LOW,COSM3755456(2),0.52516,0.4325,rs3087852,,,,,,chr17,38137364,38137364,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser47Ser/c.141G>A|534|PSMD3|protein_coding|CODING|NM_002809.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.4857,0.5259,0.4563,0.56,0.66,0.51,,,,,,,,,,,,,,,,
synonymous_variant,CSF3,SILENT,NM_000759.3:p.Leu185Leu/c.555G>A,ctG/ctA,LOW,,0.313698,0.4276,rs25645,,,,,,chr17,38173143,38173143,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu185Leu/c.555G>A|207|CSF3|protein_coding|CODING|NM_000759.3|5|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu146Leu/c.438G>A|168|CSF3|protein_coding|CODING|NM_001178147.1|4|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu182Leu/c.546G>A|204|CSF3|protein_coding|CODING|NM_172219.2|5|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu149Leu/c.447G>A|171|CSF3|protein_coding|CODING|NM_172220.2|4|1),non_coding_exon_variant(MODIFIER|||n.836G>A||CSF3||CODING|NR_033662.1|4|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3",,,,0.4254,0.4135,0.3668,0.28,0.10,0.37,,,,,,,,,,,,,,,,
synonymous_variant,MED24,SILENT,NM_014815.3:p.Ile714Ile/c.2142T>C,atT/atC,LOW,COSM3755459(1),0.314497,0.4226,rs2302777,,,,,,chr17,38179492,38179492,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile701Ile/c.2103T>C|976|MED24|protein_coding|CODING|NM_001079518.1|19|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile701Ile/c.2103T>C|976|MED24|protein_coding|CODING|NM_001267797.1|19|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile714Ile/c.2142T>C|989|MED24|protein_coding|CODING|NM_014815.3|20|1),non_coding_exon_variant(MODIFIER|||n.2381T>C||MED24||CODING|NR_052017.1|19|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HUVEC:H3K27ac,GM06990:H3K36me3",Multiple_myeloma_hyperdiploidy,,,0.4315,0.4135,0.3668,0.28,0.10,0.38,,,,,,,,,,,,,,,,
synonymous_variant,THRA,SILENT,NM_001190919.1:p.Ala117Ala/c.351C>T,gcC/gcT,LOW,COSM3755460(1),0.0297524,0.002,rs2230701,,,,,,chr17,38240216,38240216,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala117Ala/c.351C>T|451|THRA|protein_coding|CODING|NM_001190918.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala117Ala/c.351C>T|490|THRA|protein_coding|CODING|NM_001190919.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala117Ala/c.351C>T|490|THRA|protein_coding|CODING|NM_003250.5|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala117Ala/c.351C>T|410|THRA|protein_coding|CODING|NM_199334.3|5|1)","HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0358,0.0288,0.0388,0.05,0.04,0.05,,,,,,,,,,,,,,,,
synonymous_variant,GJD3,SILENT,NM_152219.3:p.Pro259Pro/c.777G>C,ccG/ccC,LOW,COSM4129964(1),0.787141,0.7827,rs502041,,,,,,chr17,38519291,38519291,C,G,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro259Pro/c.777G>C|294|GJD3|protein_coding|CODING|NM_152219.3|1|1),"HepG2:Gabp,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:Gabp,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.6176,0.6571,0.7922,,,,,,,,,,,,,,,,,,,
synonymous_variant,IGFBP4,SILENT,NM_001552.2:p.Leu35Leu/c.105G>A,ctG/ctA,LOW,COSM3749399(4),0.357827,0.4752,rs598892,,,,,,chr17,38600092,38600092,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu35Leu/c.105G>A|258|IGFBP4|protein_coding|CODING|NM_001552.2|1|1),"NHEK:CTCF,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,IMR90:H3K9ac,HUVEC:H3K4me3,CD4:DNase1,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,K562:Rad21,CD4:CTCF,HepG2:CTCF,CD4:PolII,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.5297,0.5,0.3946,0.24,0.08,0.32,,,,,,,,,,,,,,,,
missense_variant,TNS4,MISSENSE,NM_032865.5:p.Ser498Asn/c.1493G>A,aGt/aAt,MODERATE,COSM3755468(2),0.276757,0.3562,rs2290207,0.65(T),0.003(B),0.315(N),-0.9003(T),,chr17,38640744,38640744,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser498Asn/c.1493G>A|715|TNS4|protein_coding|CODING|NM_032865.5|6|1),"IMR90:H2BK120ac,HUVEC:H3K27me3,NHEK:PolII,HMEC:H3K36me3,IMR90:H2BK12ac,IMR90:H2AK5ac,HeLa-S3:PolII,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,NHEK:DNase1",,,,0.4049,0.2954,0.2594,0.22,0.17,0.25,,0.477279(N),1.000(P),2.17(T),0.0000(T),0.005,-0.638024,5.6,0.651,-0.361000,-0.112000,0.553000,0.023000,0.073000,0.982000,6.0639
missense_variant,TNS4,MISSENSE,NM_032865.5:p.Leu179Pro/c.536T>C,cTt/cCt,MODERATE,COSM436526(3),0.348243,0.3601,rs3764424,1(T),0.0(B),-1.04(N),-0.9551(T),,chr17,38645125,38645125,A,G,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu179Pro/c.536T>C|715|TNS4|protein_coding|CODING|NM_032865.5|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:PolII,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.4059,0.3343,0.2664,0.27,0.34,0.24,,0.178943(N),0.676(P),2.5(T),0.0000(T),0.023,-0.474428,5.77,5.77,-0.213000,1.462000,3.492000,0.285000,0.866000,1.000000,13.0665
missense_variant,KRT24,MISSENSE,NM_019016.2:p.Lys429Glu/c.1285A>G,Aag/Gag,MODERATE,COSM3755469(1),0.580671,0.5823,rs2462961,0.84(T),0.0(B),-0.91(N),-0.9503(T),,chr17,38855772,38855772,T,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys429Glu/c.1285A>G|525|KRT24|protein_coding|CODING|NM_019016.2|6|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.593,0.6787,0.4692,0.49,0.57,0.44,,,1.000(P),-2.23(D),0.0000(T),0.03,-1.546799,5.62,4.63,-1.054000,0.725000,0.034000,0.086000,0.004000,0.010000,10.8017
missense_variant,KRT24,MISSENSE,NM_019016.2:p.Met267Ile/c.801G>T,atG/atT,MODERATE,COSM3755470(1),0.476837,0.5823,rs874889,0.37(T),0.002(B),0.615(N),-0.9029(T),,chr17,38857446,38857446,C,A,hom,missense_variant(MODERATE|MISSENSE|atG/atT|p.Met267Ile/c.801G>T|525|KRT24|protein_coding|CODING|NM_019016.2|3|1),"GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.593,0.6427,0.4563,0.38,0.28,0.43,,,0.993(P),-1.43(T),0.0000(T),0.119,0.503839,5.82,2.79,-0.252000,0.395000,0.613000,0.322000,0.997000,0.316000,8.2903
synonymous_variant,KRT27,SILENT,NM_181537.3:p.Gly63Gly/c.189C>T,ggC/ggT,LOW,COSM3755474(1),0.0876597,0.0704,rs67771170,,,,,,chr17,38938557,38938557,G,A,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly63Gly/c.189C>T|459|KRT27|protein_coding|CODING|NM_181537.3|1|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.182,0.0605,0.1441,0.10,0.03,0.13,,,,,,,,,,,,,,,,
missense_variant,KRT27,MISSENSE,NM_181537.3:p.Ser52Thr/c.155G>C,aGc/aCc,MODERATE,COSM148267(2),0.308107,0.2361,rs2469826,0.32(T),0.15(B),1.87(L),-1.0655(T),,chr17,38938591,38938591,C,G,hom,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser52Thr/c.155G>C|459|KRT27|protein_coding|CODING|NM_181537.3|1|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2618,0.3977,0.2773,0.30,0.36,0.26,,0.000147(D),0.859(P),-1.74(D),0.0000(T),0.13,1.291162,5.43,3.41,0.655000,0.749000,1.215000,0.401000,0.972000,0.000000,10.227
missense_variant,KRT28,MISSENSE,NM_181535.3:p.Glu365Lys/c.1093G>A,Gag/Aag,MODERATE,COSM1479538(2),,,rs144664854,0(D),0.262(B),2.805(M),0.6250(D),,chr17,38950184,38950184,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu365Lys/c.1093G>A|464|KRT28|protein_coding|CODING|NM_181535.3|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,0.00,0.00,0.00,,0.000009(D),0.978(D),-2.62(D),0.7503(D),0.298,4.840631,5.7,4.73,0.650000,1.544000,4.078000,0.968000,0.906000,0.999000,14.3935
synonymous_variant,KRT28,SILENT,NM_181535.3:p.Thr335Thr/c.1005A>G,acA/acG,LOW,,0.618411,0.4196,rs2250671,,,,,,chr17,38950272,38950272,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr335Thr/c.1005A>G|464|KRT28|protein_coding|CODING|NM_181535.3|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6247,0.5259,0.6213,0.65,0.77,0.58,,,,,,,,,,,,,,,,
missense_variant,KRT28,MISSENSE,NM_181535.3:p.Ala62Val/c.185C>T,gCt/gTt,MODERATE,,0.292532,0.4077,rs4624233,0.5(T),0.005(B),0.69(N),-0.9943(T),,chr17,38955961,38955961,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala62Val/c.185C>T|464|KRT28|protein_coding|CODING|NM_181535.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3834,0.134,0.1938,0.22,0.29,0.19,,0.705705(N),1.000(P),-0.97(T),0.0000(T),0.078,0.275848,5.08,1.35,0.650000,0.623000,-0.548000,0.014000,0.000000,0.000000,5.8448
missense_variant,KRT28,MISSENSE,NM_181535.3:p.Gly52Asp/c.155G>A,gGc/gAc,MODERATE,COSM3755477(1),0.104034,0.004,rs7209228,0.12(T),0.186(B),0.895(L),-1.0168(T),,chr17,38955991,38955991,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly52Asp/c.155G>A|464|KRT28|protein_coding|CODING|NM_181535.3|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.091,0.1124,0.1829,0.15,0.11,0.18,,0.133542(N),0.986(P),-2.37(D),0.0019(T),0.246,2.696528,5.52,3.47,0.650000,0.765000,2.612000,0.886000,0.846000,0.015000,14.9934
missense_variant,KRT10,MISSENSE,NM_000421.3:p.His487Tyr/c.1459C>T,Cac/Tac,MODERATE,,0.697085,0.4653,rs17855579,0.05(D),0.0(B),0(N),-0.9545(T),,chr17,38975328,38975328,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His487Tyr/c.1459C>T|584|KRT10|protein_coding|CODING|NM_000421.3|7|1),upstream_gene_variant(MODIFIER||16||258|TMEM99|protein_coding|CODING|NM_001195387.1||1),upstream_gene_variant(MODIFIER||46||258|TMEM99|protein_coding|CODING|NM_145274.3||1),upstream_gene_variant(MODIFIER||109||258|TMEM99|protein_coding|CODING|NM_001195386.1||1)","HepG2:Gabp,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,HepG2:p300,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HSMM:H3K27ac,K562:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,H1ESC:Egr1,HeLa-S3:Gabp,HeLa-S3:PolII,GM12878:PolII,K562:ELF1,K562:Egr1,HepG2:H3K4me3,CD4:PolII,H1ESC:p300,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7157,0.572,0.6958,,,,,0.913467(N),1.000(P),-2.39(D),0.0000(T),0.115,2.673549,4.29,-1.49,-0.300000,-0.264000,-3.317000,0.062000,0.007000,0.000000,2.9439
missense_variant,KRT10,MISSENSE,NM_000421.3:p.Ile101Ser/c.302T>G,aTc/aGc,MODERATE,,0.999201,1,rs4261597,0.52(T),0.0(B),-0.345(N),-0.9587(T),,chr17,38978536,38978536,A,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile101Ser/c.302T>G|584|KRT10|protein_coding|CODING|NM_000421.3|1|1),intron_variant(MODIFIER|||c.-221+3114A>C|258|TMEM99|protein_coding|CODING|NM_001195387.1|1|1),intron_variant(MODIFIER|||c.-221+3076A>C|258|TMEM99|protein_coding|CODING|NM_145274.3|1|1),intron_variant(MODIFIER|||c.-221+3005A>C|258|TMEM99|protein_coding|CODING|NM_001195386.1|1|1)","HMEC:H3K36me3,K562:H3K36me3,K562:Znf263,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,0.997,1.00,1.00,1.00,,,0.000(P),-1.3(T),0.0000(T),0.211,1.908039,5.36,5.36,-0.175000,1.275000,2.539000,0.001000,0.628000,0.011000,15.6156
synonymous_variant,TMEM99,SILENT,NM_001195386.1:p.Val22Val/c.66G>C,gtG/gtC,LOW,COSM4000127(1),0.901558,0.8056,rs2240078,,,,,,chr17,38990834,38990834,G,C,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val22Val/c.66G>C|258|TMEM99|protein_coding|CODING|NM_001195386.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val22Val/c.66G>C|258|TMEM99|protein_coding|CODING|NM_001195387.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val22Val/c.66G>C|258|TMEM99|protein_coding|CODING|NM_145274.3|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9448,0.7954,0.9583,0.97,0.97,0.97,,,,,,,,,,,,,,,,
missense_variant,TMEM99,MISSENSE,NM_001195386.1:p.Tyr79His/c.235T>C,Tat/Cat,MODERATE,COSM3755478(3),0.33746,0.4077,rs10558,0(D),0.03(B),0(N),-0.9261(T),,chr17,38991003,38991003,T,C,het,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr79His/c.235T>C|258|TMEM99|protein_coding|CODING|NM_001195386.1|3|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr79His/c.235T>C|258|TMEM99|protein_coding|CODING|NM_001195387.1|3|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr79His/c.235T>C|258|TMEM99|protein_coding|CODING|NM_145274.3|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3691,0.1499,0.1839,0.25,0.42,0.16,,,1.000(P),"1.5,1.5(T,T)",0.0000(T),0.344,-0.444291,0.235,-0.47,-0.946000,-0.905000,-1.878000,0.001000,0.001000,0.002000,.
synonymous_variant,TMEM99,SILENT,NM_001195386.1:p.Gly88Gly/c.264T>A,ggT/ggA,LOW,,0.583067,0.4494,rs6694,,,,,,chr17,38991032,38991032,T,A,hom,"synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly88Gly/c.264T>A|258|TMEM99|protein_coding|CODING|NM_001195386.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly88Gly/c.264T>A|258|TMEM99|protein_coding|CODING|NM_001195387.1|3|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly88Gly/c.264T>A|258|TMEM99|protein_coding|CODING|NM_145274.3|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6513,0.4539,0.6064,0.62,0.68,0.60,,,,,,,,,,,,,,,,
missense_variant,TMEM99,MISSENSE,NM_001195386.1:p.Leu95Arg/c.284T>G,cTt/cGt,MODERATE,COSM3755479(1),0.108626,0.004,rs1044806,0(D),0.883(P),0(N),-1.0363(T),,chr17,38991052,38991052,T,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu95Arg/c.284T>G|258|TMEM99|protein_coding|CODING|NM_001195386.1|3|1),missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu95Arg/c.284T>G|258|TMEM99|protein_coding|CODING|NM_001195387.1|3|1),missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu95Arg/c.284T>G|258|TMEM99|protein_coding|CODING|NM_145274.3|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1012,0.1182,0.1928,0.17,0.11,0.19,,,1.000(P),"1.4,1.4(T,T)",0.0001(T),0.584,0.568095,0.158,0.158,0.172000,0.175000,0.215000,0.090000,0.089000,0.051000,.
synonymous_variant,TMEM99,SILENT,NM_001195386.1:p.Leu95Leu/c.285T>A,ctT/ctA,LOW,,0.108626,0.004,rs3169915,,,,,,chr17,38991053,38991053,T,A,het,"synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu95Leu/c.285T>A|258|TMEM99|protein_coding|CODING|NM_001195386.1|3|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu95Leu/c.285T>A|258|TMEM99|protein_coding|CODING|NM_001195387.1|3|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu95Leu/c.285T>A|258|TMEM99|protein_coding|CODING|NM_145274.3|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1012,0.1182,0.1928,0.17,0.11,0.19,,,,,,,,,,,,,,,,
synonymous_variant,KRT23,SILENT,NM_015515.4:p.His345His/c.1035T>C,caT/caC,LOW,COSM3755481(2),0.570887,0.7083,rs8037,,,,,,chr17,39081713,39081713,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His208His/c.624T>C|285|KRT23|protein_coding|CODING|NM_001282433.1|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His345His/c.1035T>C|422|KRT23|protein_coding|CODING|NM_015515.4|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.5818,0.6081,0.4056,0.44,0.53,0.39,,,,,,,,,,,,,,,,
missense_variant,KRT23,MISSENSE,NM_015515.4:p.Thr303Ala/c.907A>G,Aca/Gca,MODERATE,COSM3755482(2),0.583267,0.7083,rs9257,0.85(T),0.0(B),-1.08(N),-0.9703(T),,chr17,39084504,39084504,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr166Ala/c.496A>G|285|KRT23|protein_coding|CODING|NM_001282433.1|5|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr303Ala/c.907A>G|422|KRT23|protein_coding|CODING|NM_015515.4|6|1)","HUVEC:H3K27me3,HepG2:H3K36me3",,,,0.591,0.6081,0.4076,0.45,0.56,0.39,,0.019584(N),1.000(P),"-2.31,-2.31(D,D)",0.0000(T),0.031,0.681559,5.79,-1.48,-0.726000,-0.303000,0.423000,0.605000,0.368000,0.800000,8.4899
synonymous_variant,KRT23,SILENT,NM_015515.4:p.Arg24Arg/c.72G>A,cgG/cgA,LOW,,0.0541134,0,rs61745879,,,,,,chr17,39092784,39092784,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg24Arg/c.72G>A|422|KRT23|protein_coding|CODING|NM_015515.4|2|1),intron_variant(MODIFIER|||c.-16+596G>A|285|KRT23|protein_coding|CODING|NM_001282433.1|1|1)","HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HepG2:H3K27ac,K562:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1",,,,0.0951,0.0476,0.1083,0.07,0.04,0.09,,,,,,,,,,,,,,,,
synonymous_variant,KRT40,SILENT,NM_182497.3:p.Cys349Cys/c.1047T>C,tgT/tgC,LOW,COSM1128721(2),0.699081,0.5863,rs8064910,,,,,,chr17,39135205,39135205,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys349Cys/c.1047T>C|431|KRT40|protein_coding|CODING|NM_182497.3|8|1),GM12878:H3K36me3,,,,0.6748,0.6787,0.5378,0.64,0.85,0.52,,,,,,,,,,,,,,,,
missense_variant,KRT40,MISSENSE,NM_182497.3:p.Cys349Arg/c.1045T>C,Tgt/Cgt,MODERATE,COSM3736163(1),0.216054,0.251,rs150812789,0.36(T),0.02(B),0.79(N),-1.1071(T),,chr17,39135207,39135207,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys349Arg/c.1045T>C|431|KRT40|protein_coding|CODING|NM_182497.3|8|1),GM12878:H3K36me3,,,,0.2883,0.317,0.2425,0.18,0.08,0.23,,0.002560(N),0.001(P),"-2.29,-2.29(D,D)",0.0000(T),0.119,1.562779,5.56,3.25,0.533000,0.438000,-0.302000,0.967000,0.998000,0.000000,13.2354
missense_variant,KRT40,MISSENSE,NM_182497.3:p.Cys265Tyr/c.794G>A,tGt/tAt,MODERATE,,0.69389,0.5843,rs721957,1(T),0.0(B),-3.685(N),-0.9190(T),,chr17,39137297,39137297,C,T,hom,missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys265Tyr/c.794G>A|431|KRT40|protein_coding|CODING|NM_182497.3|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3",,,,0.6984,0.6744,0.5358,0.63,0.83,0.53,,0.008758(N),0.979(P),"-1.5,-1.5(D,D)",0.0000(T),0.141,0.487147,5.4,5.4,-0.254000,0.993000,6.219000,0.938000,0.977000,1.000000,10.8983
synonymous_variant,KRT40,SILENT,NM_182497.3:p.Leu160Leu/c.480T>C,ctT/ctC,LOW,,0.157548,0.1548,rs16968859,,,,,,chr17,39139348,39139348,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu160Leu/c.480T>C|431|KRT40|protein_coding|CODING|NM_182497.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.2004,0.1715,0.1302,0.12,0.13,0.11,,,,,,,,,,,,,,,,
missense_variant,KRT40,MISSENSE,NM_182497.3:p.Phe85Ser/c.254T>C,tTc/tCc,MODERATE,COSM4000132(1),0.161542,0.1548,rs17843015,0.01(D),0.866(P),2.445(M),-0.9950(T),,chr17,39140272,39140272,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe85Ser/c.254T>C|431|KRT40|protein_coding|CODING|NM_182497.3|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.2004,0.1715,0.1302,0.12,0.15,0.11,,0.003359(N),0.723(P),"-1.64,-1.64(D,D)",0.0063(T),0.343,2.959361,5.06,5.06,0.482000,2.037000,5.337000,0.589000,0.979000,0.977000,14.2835
synonymous_variant,KRTAP3-3,SILENT,NM_033185.2:p.Cys61Cys/c.183C>T,tgC/tgT,LOW,COSM1128719(2),0.241613,0.3234,rs12452295,,,,,,chr17,39150167,39150167,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys61Cys/c.183C>T|98|KRTAP3-3|protein_coding|CODING|NM_033185.2|1|1),HUVEC:H3K27me3,,,,0.3139,0.3141,0.2823,0.23,0.09,0.30,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP3-3,SILENT,NM_033185.2:p.Ser22Ser/c.66T>C,tcT/tcC,LOW,,0.47504,0.5,rs2010201,,,,,,chr17,39150284,39150284,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser22Ser/c.66T>C|98|KRTAP3-3|protein_coding|CODING|NM_033185.2|1|1),HUVEC:H3K27me3,,,,0.4162,0.4784,0.2913,0.37,0.57,0.26,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP3-2,SILENT,NM_031959.2:p.Pro75Pro/c.225G>A,ccG/ccA,LOW,,0.299121,0.2312,rs3813048,,,,,,chr17,39155881,39155881,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro75Pro/c.225G>A|98|KRTAP3-2|protein_coding|CODING|NM_031959.2|1|1),HUVEC:H3K27me3,,,,0.1953,0.2061,0.1223,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP3-2,MISSENSE,NM_031959.2:p.Arg27Cys/c.79C>T,Cgc/Tgc,MODERATE,,0.174121,0.2629,rs3829598,0(D),0.998(D),,-1.0961(T),,chr17,39156027,39156027,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg27Cys/c.79C>T|98|KRTAP3-2|protein_coding|CODING|NM_031959.2|1|1),HUVEC:H3K27me3,,,,0.2188,0.2709,0.169,0.13,0.04,0.17,,0.000100(D),0.001(P),1.39(T),0.0001(T),0.318,2.862235,5.76,2.56,-0.318000,0.312000,2.055000,0.472000,0.959000,1.000000,11.8174
synonymous_variant,KRTAP3-2,SILENT,NM_031959.2:p.Thr13Thr/c.39T>C,acT/acC,LOW,COSM4000133(2),0.298922,0.2302,rs9890989,,,,,,chr17,39156067,39156067,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr13Thr/c.39T>C|98|KRTAP3-2|protein_coding|CODING|NM_031959.2|1|1),HUVEC:H3K27me3,,,,0.1943,0.2075,0.1223,0.20,0.44,0.07,,,,,,,,,,,,,,,,
missense_variant,KRTAP3-2,MISSENSE,NM_031959.2:p.Ser8Gly/c.22A>G,Agc/Ggc,MODERATE,COSM4000134(2),0.298922,0.2312,rs9897046,0.28(T),0.0(B),,-0.9201(T),,chr17,39156084,39156084,T,C,het,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser8Gly/c.22A>G|98|KRTAP3-2|protein_coding|CODING|NM_031959.2|1|1),HUVEC:H3K27me3,,,,0.1943,0.2061,0.1223,0.20,0.41,0.09,,0.009810(N),1.000(P),1.86(T),0.0000(T),0.058,-1.614825,5.76,-0.514,-4.665000,-0.762000,-0.147000,0.009000,0.100000,0.300000,9.5685
synonymous_variant,KRTAP1-4,SILENT,NM_001257305.1:p.Pro100Pro/c.300G>A,ccG/ccA,LOW,COSM4129989(1),0.341454,0.3085,rs8074117,,,,,,chr17,39186031,39186031,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro100Pro/c.300G>A|121|KRTAP1-4|protein_coding|CODING|NM_001257305.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.4192,0.3602,0.2644,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP1-4,MISSENSE,NM_001257305.1:p.Ser55Ala/c.163T>G,Tct/Gct,MODERATE,COSM3766088(1),0.447883,0.4692,rs8074887,0.7(T),,,-0.9424(T),,chr17,39186168,39186168,A,C,het,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser55Ala/c.163T>G|121|KRTAP1-4|protein_coding|CODING|NM_001257305.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.4438,0.4769,0.2803,,,,,0.082099(N),,2.02(T),0.0000(T),0.054,-0.509272,4.76,1.2,-0.121000,0.245000,0.019000,0.014000,0.240000,0.009000,7.0566
synonymous_variant,KRTAP1-4,SILENT,NM_001257305.1:p.Thr37Thr/c.111C>T,acC/acT,LOW,COSM4000139(1),0.352037,0.3065,rs8073323,,,,,,chr17,39186220,39186220,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr37Thr/c.111C>T|121|KRTAP1-4|protein_coding|CODING|NM_001257305.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3",,,,0.4192,0.3617,0.2644,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP1-3,MISSENSE,NM_030966.1:p.Ile106Val/c.316A>G,Atc/Gtc,MODERATE,COSM3766089(1),,,rs62622847,0.19(T),0.105(B),,-0.9731(T),,chr17,39190758,39190758,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile106Val/c.316A>G|167|KRTAP1-3|protein_coding|CODING|NM_030966.1|1|1),HSMM:DNase1,,,,,,,0.15,0.13,0.15,,,1.000(P),1.56(T),0.0000(T),0.055,1.136827,4.53,0.255,0.533000,-0.065000,0.212000,0.612000,0.202000,0.848000,7.2048
synonymous_variant,KRTAP1-1,SILENT,NM_030967.2:p.Tyr158Tyr/c.474C>T,taC/taT,LOW,,0.222045,0.2817,rs3815561,,,,,,chr17,39197176,39197176,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr158Tyr/c.474C>T|177|KRTAP1-1|protein_coding|CODING|NM_030967.2|1|1),"GM06990:H3K27me3,GM12878:H3K27me3",,,,0.2577,0.2622,0.1332,0.16,0.18,0.15,,,,,,,,,,,,,,,,
stop_gained,KRTAP1-1,NONSENSE,NM_030967.2:p.Gln51*/c.151C>T,Cag/Tag,HIGH,,,,rs3213755,0.88(T),,,,,chr17,39197499,39197499,G,A,het,stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln51*/c.151C>T|177|KRTAP1-1|protein_coding|CODING|NM_030967.2|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HSMM:DNase1",,,,,,,0.16,0.18,0.15,,,0.000(P),,,.,4.100620,3.6,3.6,0.650000,2.339000,-0.153000,0.931000,1.000000,0.237000,7.1567
missense_variant,KRTAP4-7,MISSENSE,NM_033061.3:p.Ser16Gly/c.46A>G,Agc/Ggc,MODERATE,COSM979035(5),0.621805,0.3938,rs11655310,1(T),0.0(B),,-1.0265(T),,chr17,39240504,39240504,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser16Gly/c.46A>G|155|KRTAP4-7|protein_coding|CODING|NM_033061.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,IMR90:H2BK12ac,HSMM:DNase1,HepG2:H3K27me3",,,,0.499,0.6297,0.6153,,,,,,1.000(P),6.35(T),0.0000(T),0.114,-1.989467,3.09,2.03,-0.355000,0.103000,0.317000,0.015000,0.190000,0.673000,3.8452
missense_variant,KRTAP4-7,MISSENSE,NM_033061.3:p.Asp18Val/c.53A>T,gAc/gTc,MODERATE,COSM3970039(3),0.551717,0.3879,rs383835,0.12(T),0.007(B),,-1.0455(T),,chr17,39240511,39240511,A,T,hom,missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp18Val/c.53A>T|155|KRTAP4-7|protein_coding|CODING|NM_033061.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,IMR90:H2BK12ac,HSMM:DNase1,HepG2:H3K27me3",,,,0.5031,0.6081,0.6024,,,,,0.272684(U),1.000(P),6.25(T),0.0000(T),0.247,-0.889937,1.02,-1.55,0.260000,-0.591000,0.065000,0.074000,0.114000,0.086000,2.8192
missense_variant,KRTAP4-7,MISSENSE,NM_033061.3:p.Thr68Ser/c.203C>G,aCc/aGc,MODERATE,COSM3755491(2),0.644768,0.4177,rs11650484,,,,,,chr17,39240661,39240661,C,G,hom,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr68Ser/c.203C>G|155|KRTAP4-7|protein_coding|CODING|NM_033061.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HSMM:DNase1,HepG2:H3K27me3",,,,0.5082,0.634,0.6203,,,,,,1.000(P),,,.,-2.356434,3.78,-3.84,-0.383000,-0.884000,-2.567000,0.039000,0.002000,0.000000,3.9478
missense_variant,KRTAP4-9,MISSENSE,NM_001146041.1:p.Ala98Val/c.293C>T,gCg/gTg,MODERATE,,0.675519,0.4028,rs7207685,1(T),0.0(B),-1.08(N),-0.9905(T),,chr17,39261933,39261933,C,T,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala98Val/c.293C>T|210|KRTAP4-9|protein_coding|CODING|NM_001146041.1|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5429,0.6787,0.7147,,,,,0.000156(U),1.000(P),1.49(T),0.0219(T),0.126,-1.019148,2.51,-2.04,-1.140000,-0.852000,-6.039000,0.124000,0.004000,0.000000,5.0861
synonymous_variant,KRTAP4-9,SILENT,NM_001146041.1:p.Thr103Thr/c.309T>C,acT/acC,LOW,COSM3783054(3),0.664736,0.4038,rs7212474,,,,,,chr17,39261949,39261949,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr103Thr/c.309T>C|210|KRTAP4-9|protein_coding|CODING|NM_001146041.1|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,HSMM:DNase1,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5419,0.6441,0.6869,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP4-11,MISSENSE,NM_033059.3:p.Arg167Gly/c.499C>G,Cga/Gga,MODERATE,COSM3819534(1),0.463259,0.252,rs349771,0.08(T),0.088(B),1.1(L),-1.1925(T),,chr17,39274069,39274069,G,C,het,missense_variant(MODERATE|MISSENSE|Cga/Gga|p.Arg167Gly/c.499C>G|195|KRTAP4-11|protein_coding|CODING|NM_033059.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.4969,0.487,0.661,,,,,,0.998(P),6.16(T),0.0000(T),0.191,1.937647,3.95,2.95,0.609000,0.934000,2.143000,0.879000,0.948000,0.116000,11.1465
synonymous_variant,KRTAP4-11,SILENT,NM_033059.3:p.Arg111Arg/c.333C>T,cgC/cgT,LOW,COSM472755(7),0.293131,0.1042,rs11654403,,,,,,chr17,39274235,39274235,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg111Arg/c.333C>T|195|KRTAP4-11|protein_coding|CODING|NM_033059.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.3937,0.2522,0.4235,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP4-11,MISSENSE,NM_033059.3:p.Arg17Gln/c.50G>A,cGa/cAa,MODERATE,COSM3795591(2),0.6877,0.4306,rs9897031,0.7(T),0.0(B),-1.405(N),-1.0484(T),,chr17,39274518,39274518,C,T,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg17Gln/c.50G>A|195|KRTAP4-11|protein_coding|CODING|NM_033059.3|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:H3K27me3",,,,0.5685,0.6686,0.7137,0.79,0.93,0.72,,0.911716(N),1.000(P),6.36(T),0.0000(T),0.051,-1.890787,2.47,-0.215,-0.684000,-0.140000,2.115000,0.113000,0.304000,0.092000,2.9268
missense_variant,KRTAP4-6,MISSENSE,NM_030976.1:p.Pro92Ser/c.274C>T,Ccc/Tcc,MODERATE,COSM3755499(3),0.0449281,0,rs35985080,0.14(T),,2.135(M),-0.9562(T),,chr17,39296466,39296466,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro92Ser/c.274C>T|205|KRTAP4-6|protein_coding|CODING|NM_030976.1|1|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.0787,0.0591,0.1034,,,,,,1.000(N),4.58(T),0.0004(T),0.112,3.119382,4.48,0.151,0.603000,-0.192000,0.189000,0.894000,0.000000,0.018000,4.591
missense_variant,KRTAP4-5,MISSENSE,NM_033188.3:p.Arg22Cys/c.64C>T,Cgc/Tgc,MODERATE,COSM3755503(1),0.441094,0.3532,rs1497383,0.09(T),0.013(B),2.205(M),-0.9781(T),,chr17,39305956,39305956,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg22Cys/c.64C>T|181|KRTAP4-5|protein_coding|CODING|NM_033188.3|1|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.5297,0.5144,0.4861,0.45,0.38,0.48,,0.884953(U),0.988(P),4.88(T),0.0000(T),0.117,0.059209,3.52,1.46,-0.254000,0.421000,-0.126000,0.011000,0.504000,0.022000,2.1325
missense_variant,KRTAP4-2,MISSENSE,NM_033062.3:p.Tyr95Cys/c.284A>G,tAc/tGc,MODERATE,,0.952077,0.9484,rs389784,1(T),0.0(B),-4.31(N),-0.9809(T),,chr17,39334133,39334133,T,C,hom,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr95Cys/c.284A>G|136|KRTAP4-2|protein_coding|CODING|NM_033062.3|1|1),"HSMM:DNase1,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9775,0.9741,0.9324,0.93,0.94,0.92,,,0.940(P),5.76(T),0.0000(T),0.234,1.386287,4.65,4.65,-0.166000,1.072000,1.484000,0.610000,0.978000,0.330000,11.0935
missense_variant,KRTAP4-1,MISSENSE,NM_033060.2:p.Ala115Thr/c.343G>A,Gca/Aca,MODERATE,,0.952077,0.9484,rs398825,0.16(T),0.0(B),,-1.0487(T),,chr17,39340707,39340707,C,T,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala115Thr/c.343G>A|127|KRTAP4-1|protein_coding|CODING|NM_033060.2|2|1),,,,,0.9775,0.9741,0.9324,0.93,0.94,0.92,,,1.000(P),5.06(T),0.0000(T),0.051,1.831264,5.33,-1.83,-1.169000,-0.659000,-0.133000,0.000000,0.000000,0.002000,6.8152
missense_variant,KRTAP4-1,MISSENSE,NM_033060.2:p.His66Arg/c.197A>G,cAc/cGc,MODERATE,,0.952077,0.9484,rs2320231,0.57(T),0.0(B),,-0.9997(T),,chr17,39340910,39340910,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His66Arg/c.197A>G|127|KRTAP4-1|protein_coding|CODING|NM_033060.2|1|1),HSMM:DNase1,,,,0.9775,0.9741,0.9324,0.93,0.94,0.92,,,1.000(P),6.34(T),0.0000(T),0.087,-0.809802,4.44,2.33,-0.349000,0.313000,0.025000,0.348000,0.628000,0.000000,3.5768
missense_variant,KRTAP9-1,MISSENSE,NM_001190460.1:p.Ile127Thr/c.380T>C,aTc/aCc,MODERATE,COSM4130027(1),0.955671,0.9484,rs238824,0.66(T),,-1.45(N),-1.0355(T),,chr17,39346518,39346518,T,C,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile127Thr/c.380T>C|250|KRTAP9-1|protein_coding|CODING|NM_001190460.1|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9775,0.9755,0.9324,,,,,,1.000(P),6.16(T),0.0000(T),0.078,-2.074518,2.29,-3.25,-0.479000,-1.282000,-4.366000,0.021000,0.000000,0.000000,5.1633
synonymous_variant,KRTAP9-3,SILENT,NM_031962.2:p.Cys33Cys/c.99T>C,tgT/tgC,LOW,,0.958866,0.9504,rs1860551,,,,,,chr17,39388852,39388852,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys33Cys/c.99T>C|159|KRTAP9-3|protein_coding|CODING|NM_031962.2|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9785,0.9769,0.9364,0.93,0.95,0.93,,,,,,,,,,,,,,,,
missense_variant,KRTAP9-4,MISSENSE,NM_033191.2:p.Ser146Tyr/c.437C>A,tCc/tAc,MODERATE,COSM3755510(1),0.675919,0.631,rs2191379,0.17(T),0.093(B),1.24(L),-1.1369(T),,chr17,39406409,39406409,C,A,hom,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser146Tyr/c.437C>A|154|KRTAP9-4|protein_coding|CODING|NM_033191.2|1|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.8047,0.8012,0.7336,0.66,0.52,0.72,,,1.000(P),5.3(T),0.0000(T),0.182,1.429114,2.38,1.38,0.393000,0.535000,-0.100000,0.507000,0.008000,0.947000,4.3378
synonymous_variant,KRTAP29-1,SILENT,NM_001257309.1:p.Ser113Ser/c.339T>C,tcT/tcC,LOW,,0.678315,0.629,rs1005197,,,,,,chr17,39458765,39458765,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser113Ser/c.339T>C|341|KRTAP29-1|protein_coding|CODING|NM_001257309.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,CD4:H2AK5ac,CD4:H4K91ac,NHEK:H3K4me1,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8037,0.8012,0.7336,,,,,,,,,,,,,,,,,,,
missense_variant,KRT34,MISSENSE,NM_021013.3:p.Ile280Thr/c.839T>C,aTt/aCt,MODERATE,COSM1383139(1),0.744609,0.5873,rs2239710,1(T),0.0(B),-2.1(N),-0.9779(T),,chr17,39535859,39535859,A,G,hom,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile280Thr/c.839T>C|436|KRT34|protein_coding|CODING|NM_021013.3|4|1),"NHEK:H3K27ac,IMR90:H2BK120ac,GM12878:H3K36me3,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4ac,K562:H3K27me3,HeLa-S3:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K27me3,IMR90:H2BK20ac",,,,0.7566,0.6744,0.6451,0.74,0.91,0.65,,0.000259(N),1.000(P),,0.0000(T),0.046,-1.679480,4.6,3.56,-0.176000,1.064000,2.515000,0.206000,1.000000,1.000000,7.2738
missense_variant,KRT37,MISSENSE,NM_003770.4:p.Ser73Cys/c.217A>T,Agt/Tgt,MODERATE,COSM4130048(1),0.391374,0.4067,rs9916475,1(T),0.0(B),-2.305(N),-0.9269(T),,chr17,39580559,39580559,T,A,het,missense_variant(MODERATE|MISSENSE|Agt/Tgt|p.Ser73Cys/c.217A>T|449|KRT37|protein_coding|CODING|NM_003770.4|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.6207,0.3415,0.4592,0.40,0.22,0.49,,0.000046(N),1.000(P),-1.49(T),0.0000(T),0.061,0.260139,4.69,4.69,-0.257000,0.661000,1.043000,0.002000,0.665000,0.952000,2.6648
missense_variant,KRT37,MISSENSE,NM_003770.4:p.Thr72Ala/c.214A>G,Acc/Gcc,MODERATE,COSM3755529(2),0.391374,0.4067,rs9916484,0.08(T),0.004(B),0.895(L),-0.9782(T),,chr17,39580562,39580562,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr72Ala/c.214A>G|449|KRT37|protein_coding|CODING|NM_003770.4|1|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.6207,0.3415,0.4592,0.40,0.22,0.49,,0.004415(N),0.999(P),-1.47(T),0.0000(T),0.072,1.211427,4.69,4.69,0.533000,1.760000,0.986000,0.004000,0.517000,0.311000,12.0874
missense_variant,KRT37,MISSENSE,NM_003770.4:p.Asn39Ser/c.116A>G,aAt/aGt,MODERATE,COSM3755530(1),0.391374,0.4067,rs9916724,0.69(T),0.0(B),0.55(N),-0.9769(T),,chr17,39580660,39580660,T,C,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn39Ser/c.116A>G|449|KRT37|protein_coding|CODING|NM_003770.4|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.6207,0.3415,0.4592,0.40,0.22,0.48,,0.455396(N),1.000(P),-1.47(T),0.0000(T),0.088,0.219886,2.94,2.94,0.383000,1.127000,-0.252000,0.004000,0.002000,0.000000,6.4153
missense_variant,KRT37,MISSENSE,NM_003770.4:p.Gly13Cys/c.37G>T,Ggt/Tgt,MODERATE,COSM436577(1),0.21905,0.0843,rs9910204,0.15(T),0.423(B),0.695(N),-1.1192(T),,chr17,39580739,39580739,C,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Tgt|p.Gly13Cys/c.37G>T|449|KRT37|protein_coding|CODING|NM_003770.4|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.3875,0.2147,0.2833,0.26,0.17,0.31,,0.026036(N),1.000(P),-1.75(D),0.0000(T),0.209,2.061581,4.0,4.0,0.655000,1.955000,1.771000,0.019000,0.052000,0.122000,12.269
missense_variant,KRT38,MISSENSE,NM_006771.3:p.Gly438Asp/c.1313G>A,gGc/gAc,MODERATE,,0.00579073,0,rs56120541,0.57(T),0.07(B),0(N),-0.9015(T),,chr17,39593722,39593722,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly438Asp/c.1313G>A|456|KRT38|protein_coding|CODING|NM_006771.3|7|1),"GM06990:H3K27me3,GM12878:H3K36me3",,,,0.0092,0.0101,0.0119,0.01,0.00,0.01,,0.368529(N),1.000(N),-1.56(D),0.1493(T),0.282,0.743038,2.26,0.0134,-0.311000,0.042000,0.158000,0.012000,0.531000,0.142000,2.9093
missense_variant,KRT38,MISSENSE,NM_006771.3:p.Ser423Pro/c.1267T>C,Tct/Cct,MODERATE,,0.933706,0.999,rs386619995,0.55(T),0.0(B),0(N),-1.0061(T),,chr17,39593768,39593768,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser423Pro/c.1267T>C|456|KRT38|protein_coding|CODING|NM_006771.3|7|1),"GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3",,,,0.9182,0.9236,0.8837,0.91,0.93,0.91,,0.103121(N),1.000(P),-1.58(D),0.0000(T),0.053,-0.447651,2.36,-0.938,-0.215000,-0.486000,-0.227000,0.253000,0.002000,0.004000,3.3536
synonymous_variant,KRT38,SILENT,NM_006771.3:p.Glu400Glu/c.1200G>A,gaG/gaA,LOW,,0.000399361,0,rs72828202,,,,,,chr17,39594386,39594386,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu400Glu/c.1200G>A|456|KRT38|protein_coding|CODING|NM_006771.3|6|1),"GM12878:H3K27me3,GM12878:H3K36me3,IMR90:DNase1,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,KRT32,MISSENSE,NM_002278.3:p.Pro427Thr/c.1279C>A,Ccc/Acc,MODERATE,,0.819489,0.7748,rs2604953,0.22(T),0.055(B),2.125(M),-0.9856(T),,chr17,39616430,39616430,G,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro427Thr/c.1279C>A|448|KRT32|protein_coding|CODING|NM_002278.3|7|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8579,0.781,0.9463,0.89,0.78,0.95,,0.493574(N),1.000(P),-2.21(D),0.0000(T),0.11,0.903949,3.89,0.565,0.511000,0.050000,-0.026000,0.002000,0.010000,0.003000,3.1164
missense_variant,KRT32,MISSENSE,NM_002278.3:p.Arg280His/c.839G>A,cGc/cAc,MODERATE,COSM4130050(1),0.179513,0.1141,rs72830046,0.05(D),0.179(B),2.68(M),-0.9778(T),,chr17,39620565,39620565,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg280His/c.839G>A|448|KRT32|protein_coding|CODING|NM_002278.3|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HMEC:H3K4me1,HepG2:H3K27me3",,,,0.3241,0.196,0.2724,0.23,0.08,0.30,,0.491809(N),1.000(P),-2.6(D),0.0001(T),0.108,3.117464,5.22,-2.66,0.655000,-0.710000,-0.526000,0.991000,0.896000,0.000000,4.826
missense_variant,KRT32,MISSENSE,NM_002278.3:p.Ser222Tyr/c.665C>A,tCc/tAc,MODERATE,COSM3755534(1),0.499601,0.6369,rs2071561,0(D),0.977(D),3.725(H),-1.0639(T),,chr17,39622068,39622068,G,T,het,missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser222Tyr/c.665C>A|448|KRT32|protein_coding|CODING|NM_002278.3|3|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7178,0.5187,0.4761,0.43,0.29,0.50,,0.001589(N),0.268(P),-2.74(D),0.0000(T),0.369,3.513733,5.1,4.12,0.558000,1.285000,0.600000,0.995000,1.000000,0.000000,9.1393
missense_variant,KRT32,MISSENSE,NM_002278.3:p.Gln72Arg/c.215A>G,cAg/cGg,MODERATE,,0.325479,0.3413,rs3744786,0.37(T),0.0(B),0(N),-1.0251(T),,chr17,39623363,39623363,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln72Arg/c.215A>G|448|KRT32|protein_coding|CODING|NM_002278.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4959,0.3963,0.3032,0.28,0.19,0.33,,0.949751(N),1.000(P),-1.46(T),0.0000(T),0.025,-0.753225,4.87,-2.1,-1.977000,-0.904000,-0.471000,0.000000,0.000000,0.000000,10.2254
synonymous_variant,KRT35,SILENT,NM_002280.4:p.Gly453Gly/c.1359T>C,ggT/ggC,LOW,COSM3932593(1),0.73103,0.6419,rs2239711,,,,,,chr17,39633317,39633317,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly453Gly/c.1359T>C|455|KRT35|protein_coding|CODING|NM_002280.4|7|1),"GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8742,0.6729,0.7107,0.72,0.74,0.72,,,,,,,,,,,,,,,,
missense_variant,KRT35,MISSENSE,NM_002280.4:p.Pro443Ala/c.1327C>G,Ccc/Gcc,MODERATE,COSM1750026(3),0.548323,0.3462,rs2071601,0.08(T),0.022(B),1.795(L),-0.8975(T),,chr17,39633349,39633349,G,C,hom,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro443Ala/c.1327C>G|455|KRT35|protein_coding|CODING|NM_002280.4|7|1),"GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6524,0.5432,0.5388,0.57,0.62,0.54,,0.000624(D),0.021(P),"-1.45,-1.38(T,T)",0.0000(T),0.248,2.905373,5.41,5.41,0.563000,2.816000,4.118000,0.840000,1.000000,1.000000,14.573
synonymous_variant,KRT35,SILENT,NM_002280.4:p.Ala329Ala/c.987T>C,gcT/gcC,LOW,COSM3766093(1),0.576078,0.3403,rs7216017,,,,,,chr17,39634625,39634625,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala329Ala/c.987T>C|455|KRT35|protein_coding|CODING|NM_002280.4|5|1),"GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6524,0.5591,0.5398,0.60,0.70,0.54,,,,,,,,,,,,,,,,
synonymous_variant,KRT35,SILENT,NM_002280.4:p.Asp255Asp/c.765C>T,gaC/gaT,LOW,,0.0678914,0.001,rs12936485,,,,,,chr17,39635194,39635194,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp255Asp/c.765C>T|455|KRT35|protein_coding|CODING|NM_002280.4|4|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.092,0.085,0.1183,0.09,0.05,0.10,,,,,,,,,,,,,,,,
missense_variant,KRT35,MISSENSE,NM_002280.4:p.Ser36Pro/c.106T>C,Tct/Cct,MODERATE,,0.574481,0.3333,rs743686,0.07(T),0.933(D),2.11(M),-0.8528(T),,chr17,39637244,39637244,A,G,hom,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser36Pro/c.106T>C|455|KRT35|protein_coding|CODING|NM_002280.4|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6524,0.5591,0.5398,0.60,0.71,0.55,,0.026597(N),0.221(P),"-1.58,-1.59(D,D)",0.0000(T),0.48,3.234991,5.31,5.31,0.460000,2.231000,0.577000,0.628000,0.998000,0.119000,9.1168
synonymous_variant,KRT36,SILENT,NM_003771.4:p.Cys409Cys/c.1227T>C,tgT/tgC,LOW,,0.00599042,0,rs72832087,,,,,,chr17,39642805,39642805,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys409Cys/c.1227T>C|467|KRT36|protein_coding|CODING|NM_003771.4|7|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0092,0.0101,0.0129,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,KRT36,MISSENSE,NM_003771.4:p.Asn357Thr/c.1070A>C,aAc/aCc,MODERATE,,0.142173,0.004,rs11657323,0.02(D),0.395(B),2.015(M),-0.9855(T),,chr17,39643340,39643340,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn357Thr/c.1070A>C|467|KRT36|protein_coding|CODING|NM_003771.4|6|1),"NHEK:CTCF,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,NHEK:H3K27me3,K562:Rad21,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.1605,0.1239,0.2316,0.20,0.17,0.22,,0.000047(D),1.000(P),"-2.43,-2.43(D,D)",0.0005(T),0.078,2.491425,6.07,3.84,0.533000,0.520000,-0.770000,0.956000,0.023000,0.000000,5.6032
missense_variant,KRT36,MISSENSE,NM_003771.4:p.Thr315Met/c.944C>T,aCg/aTg,MODERATE,,0.484425,0.3323,rs2301354,0.01(D),0.36(B),2.575(M),-0.9291(T),,chr17,39643646,39643646,G,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr315Met/c.944C>T|467|KRT36|protein_coding|CODING|NM_003771.4|5|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6524,0.5447,0.5398,0.50,0.41,0.55,,0.040964(N),0.999(P),"-2.5,-2.5(D,D)",0.0000(T),0.078,2.436719,5.95,1.13,0.655000,0.389000,-0.279000,0.676000,0.929000,0.000000,17.8773
synonymous_variant,KRT36,SILENT,NM_003771.4:p.Arg32Arg/c.96T>C,cgT/cgC,LOW,COSM4130051(1),0.767572,0.7361,rs1003842,,,,,,chr17,39646021,39646021,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg32Arg/c.96T>C|467|KRT36|protein_coding|CODING|NM_003771.4|1|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.7248,0.7127,0.73,0.74,0.73,,,,,,,,,,,,,,,,
missense_variant,KRT13,MISSENSE,NM_153490.2:p.Thr298Ala/c.892A>G,Acc/Gcc,MODERATE,,0.903954,0.999,rs4796697,0.28(T),"0.012,0.011,0.034(B,B,B)",0.815(L),-0.9641(T),,chr17,39659194,39659194,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr298Ala/c.892A>G|420|KRT13|protein_coding|CODING|NM_002274.3|4|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr298Ala/c.892A>G|458|KRT13|protein_coding|CODING|NM_153490.2|4|1)","GM12878:H3K27me3,HepG2:H3K27me3",,,,0.9775,0.9726,0.995,0.92,0.76,0.99,,0.424941(N),1.000(P),"-1.05,-1.05(T,T)",0.0000(T),0.091,-0.179970,4.32,-3.22,-1.381000,-0.648000,-2.022000,0.042000,0.122000,0.000000,1.056
missense_variant,KRT13,MISSENSE,NM_153490.2:p.Ala187Val/c.560C>T,gCg/gTg,MODERATE,,0.705272,0.9048,rs9891361,0.02(D),"0.811,0.677,0.784(P,P,P)",1.845(L),-0.9151(T),,chr17,39659913,39659913,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala187Val/c.560C>T|420|KRT13|protein_coding|CODING|NM_002274.3|2|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala187Val/c.560C>T|458|KRT13|protein_coding|CODING|NM_153490.2|2|1)","GM12878:H3K27me3,HepG2:H3K27me3",,,,0.911,0.8617,0.9006,0.70,0.31,0.89,,0.000264(D),0.000(P),"-2.36,-2.36(D,D)",0.0000(T),0.381,5.384180,4.89,4.89,0.655000,2.539000,6.585000,0.977000,0.952000,1.000000,18.2498
missense_variant,KRT13,MISSENSE,NM_153490.2:p.Ala146Gly/c.437C>G,gCt/gGt,MODERATE,,0.0742812,0.0278,rs760134,0.61(T),"0.164,0.253,0.164,0.253(B,B,B,B)",-0.94(N),-0.8999(T),,chr17,39661366,39661366,G,C,het,"missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala146Gly/c.437C>G|420|KRT13|protein_coding|CODING|NM_002274.3|1|1),missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala146Gly/c.437C>G|458|KRT13|protein_coding|CODING|NM_153490.2|1|1)",HepG2:H3K27me3,,,,0.0542,0.0677,0.0616,0.08,0.12,0.05,,0.089123(N),1.000(P),"-2.5,-2.5(D,D)",0.0036(T),0.053,-1.530348,4.9,-0.947,0.655000,-0.256000,0.374000,0.002000,0.000000,0.000000,2.0777
synonymous_variant,KRT13,SILENT,NM_153490.2:p.Ser38Ser/c.114C>T,tcC/tcT,LOW,,0.855032,0.9712,rs8182306,,,,,,chr17,39661689,39661689,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser38Ser/c.114C>T|420|KRT13|protein_coding|CODING|NM_002274.3|1|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser38Ser/c.114C>T|458|KRT13|protein_coding|CODING|NM_153490.2|1|1)",HepG2:H3K27me3,,,,0.9233,0.9135,0.9324,0.87,0.72,0.94,,,,,,,,,,,,,,,,
missense_variant,KRT15,MISSENSE,NM_002275.3:p.Ala421Gly/c.1262C>G,gCc/gGc,MODERATE,,0.972843,1,rs897420,0.17(T),"0.001,0.001(B,B)",0(N),-0.9708(T),,chr17,39670912,39670912,G,C,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala421Gly/c.1262C>G|456|KRT15|protein_coding|CODING|NM_002275.3|7|1),"HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,0.9942,1,0.97,0.92,1.00,,0.384126(N),1.000(P),"-1.51,-1.35,-1.51(D,T,D)",0.0000(T),0.13,-0.327756,4.22,3.22,-0.127000,0.690000,0.541000,0.016000,0.011000,0.587000,10.6352
missense_variant,KRT15,MISSENSE,NM_002275.3:p.Thr147Ala/c.439A>G,Acc/Gcc,MODERATE,,0.732827,0.9147,rs1050784,0.52(T),0.006(B),0.83(L),-0.9948(T),,chr17,39674641,39674641,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr147Ala/c.439A>G|456|KRT15|protein_coding|CODING|NM_002275.3|1|1),upstream_gene_variant(MODIFIER||1172|||MIR6510||NON_CODING|NR_106765.1||1)","NHEK:H3K4me3,GM12878:H3K27me3,NHEK:H3K4me1,HMEC:H3K36me3,HMEC:H3K4me2,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.7832,0.7867,0.6481,0.62,0.59,0.64,,0.604104(N),1.000(P),"-3.49,-3.49(D,D)",0.0000(T),0.021,-1.421478,5.31,-3.05,0.459000,-0.744000,-0.885000,0.063000,0.000000,0.000000,5.6988
synonymous_variant,KRT19,SILENT,NM_002276.4:p.Asn157Asn/c.471T>C,aaT/aaC,LOW,,0.731829,0.9137,rs4601,,,,,,chr17,39681475,39681475,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn157Asn/c.471T>C|400|KRT19|protein_coding|CODING|NM_002276.4|2|1),"H1ESC:H3K36me3,GM12878:H3K27me3,K562:H3K36me3,HepG2:H3K36me3",,RCV000056946.1,,0.7843,0.7853,0.6471,0.62,0.59,0.64,,,,,,,,,,,,,,,,
missense_variant,KRT19,MISSENSE,NM_002276.4:p.Ala60Gly/c.179C>G,gCc/gGc,MODERATE,COSM3755537(3),0.748003,0.9187,rs4602,0.58(T),0.0(B),-1.79(N),-0.9584(T),,chr17,39684321,39684321,G,C,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala60Gly/c.179C>G|400|KRT19|protein_coding|CODING|NM_002276.4|1|1),"H1ESC:PolII,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,H1ESC:TAF1,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HSMM:H3K27me3,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HepG2:H3K27me3,K562:H3K4me2",,RCV000056945.1,,0.7863,0.7896,0.6471,0.63,0.63,0.63,,0.102967(N),1.000(P),"-1.48,-1.07(T,T)",0.0000(T),0.276,-0.264716,4.39,4.39,-0.216000,1.213000,0.256000,0.129000,1.000000,0.005000,14.8587
synonymous_variant,KRT19,SILENT,NM_002276.4:p.Ala30Ala/c.90C>T,gcC/gcT,LOW,COSM436587(13),0.684105,0.9177,rs11550883,,,,,,chr17,39684410,39684410,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala30Ala/c.90C>T|400|KRT19|protein_coding|CODING|NM_002276.4|1|1),"H1ESC:PolII,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,H1ESC:TAF1,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27ac,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,K562:DNase1",,RCV000056950.1,,0.7863,0.7709,0.6402,0.59,0.48,0.64,,,,,,,,,,,,,,,,
missense_variant,KRT14,MISSENSE,NM_000526.4:p.Ala94Thr/c.280G>A,Gct/Act,MODERATE,COSM3755538(2),0.290735,0.0575,rs3826550,0.39(T),0.08(B),1.795(L),-1.0729(T),,chr17,39742807,39742807,C,T,hom,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala94Thr/c.280G>A|472|KRT14|protein_coding|CODING|NM_000526.4|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K27me3,NHEK:PolII,GM12878:H3K36me3,HMEC:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1",,RCV000056702.1,,0.2495,0.2709,0.4145,,,,,0.714173(N),0.999(P),-2.51(D),0.0000(T),0.317,0.497409,5.11,5.11,0.549000,2.541000,0.065000,0.013000,0.725000,0.000000,14.2293
synonymous_variant,KRT14,SILENT,NM_000526.4:p.Ser77Ser/c.231C>T,agC/agT,LOW,COSM3766094(1),0.152356,0,rs6503639,,,,,,chr17,39742856,39742856,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser77Ser/c.231C>T|472|KRT14|protein_coding|CODING|NM_000526.4|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K27me3,NHEK:PolII,GM12878:H3K36me3,HMEC:H3K36me3,HMEC:H3K27ac,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1",,RCV000056700.1,,0.1217,0.2003,0.3012,0.28,0.17,0.34,,,,,,,,,,,,,,,,
missense_variant,KRT14,MISSENSE,NM_000526.4:p.Cys63Tyr/c.188G>A,tGc/tAc,MODERATE,,0.992612,0.998,rs6503640,0.11(T),0.0(B),1.245(L),-1.0130(T),,chr17,39742899,39742899,C,T,hom,missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys63Tyr/c.188G>A|472|KRT14|protein_coding|CODING|NM_000526.4|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K27me3,NHEK:PolII,GM12878:H3K36me3,HMEC:H3K36me3,HMEC:H3K27ac,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1",,RCV000056696.1,,1,1,0.998,,,,,0.037057(N),1.000(P),-2.24(D),0.0000(T),0.178,0.217908,4.76,-1.0,-2.674000,-0.636000,-1.774000,0.004000,0.065000,0.000000,4.7411
synonymous_variant,GAST,SILENT,NM_000805.4:p.Leu4Leu/c.12G>A,ctG/ctA,LOW,,0.847045,0.9028,rs7220169,,,,,,chr17,39871700,39871700,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu4Leu/c.12G>A|101|GAST|protein_coding|CODING|NM_000805.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9376,0.8156,0.8907,0.84,0.76,0.88,,,,,,,,,,,,,,,,
missense_variant,HAP1,MISSENSE,NM_177977.2:p.Phe508Leu/c.1524C>G,ttC/ttG,MODERATE,,0.896565,0.8968,rs8075017,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.805(N),-0.9595(T),,chr17,39881289,39881289,G,C,hom,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe491Leu/c.1473C>G|602|HAP1|protein_coding|CODING|NM_001079870.1|10|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe483Leu/c.1449C>G|594|HAP1|protein_coding|CODING|NM_001079871.1|10|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe508Leu/c.1524C>G|619|HAP1|protein_coding|CODING|NM_177977.2|11|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9376,0.8285,0.8917,0.89,0.92,0.88,,0.714735(N),1.000(P),"1.8,1.68,3.76,3.91,3.91,3.76(T,T,T,T,T,T)",0.0000(T),0.043,-1.171146,3.37,-1.63,-0.975000,-0.568000,-0.471000,0.001000,0.000000,0.000000,0.2251
missense_variant,HAP1,MISSENSE,NM_177977.2:p.Thr441Met/c.1322C>T,aCg/aTg,MODERATE,,0.198882,0.249,rs4523977,0.3(T),"0.037,0.037,0.037,0.006(B,B,B,B)",-0.46(N),-0.9025(T),,chr17,39883350,39883350,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr424Met/c.1271C>T|602|HAP1|protein_coding|CODING|NM_001079870.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr416Met/c.1247C>T|594|HAP1|protein_coding|CODING|NM_001079871.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr441Met/c.1322C>T|619|HAP1|protein_coding|CODING|NM_177977.2|9|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3609,0.2017,0.2346,0.16,0.04,0.22,,0.800198(N),1.000(P),"3.22,3.58,3.34,3.23(T,T,T,T)",0.0000(T),0.073,-0.293044,3.61,-4.26,-0.224000,-1.024000,-1.167000,0.002000,0.001000,0.000000,5.3193
missense_variant,HAP1,MISSENSE,NM_177977.2:p.Ser357Leu/c.1070C>T,tCg/tTg,MODERATE,COSM3755543(1),0.773163,0.9018,rs4796693,0.5(T),"0.458,0.458,0.272,0.709(P,P,B,P)",1.995(M),-0.9823(T),,chr17,39884583,39884583,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser365Leu/c.1094C>T|602|HAP1|protein_coding|CODING|NM_001079870.1|7|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser357Leu/c.1070C>T|594|HAP1|protein_coding|CODING|NM_001079871.1|7|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser357Leu/c.1070C>T|619|HAP1|protein_coding|CODING|NM_177977.2|7|1),splice_region_variant(LOW|||c.1094C>T|602|HAP1|protein_coding|CODING|NM_001079870.1|7|1),splice_region_variant(LOW|||c.1070C>T|594|HAP1|protein_coding|CODING|NM_001079871.1|7|1),splice_region_variant(LOW|||c.1070C>T|619|HAP1|protein_coding|CODING|NM_177977.2|7|1)","NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9182,0.7925,0.7982,0.72,0.58,0.79,,0.066211(N),0.000(P),"2.2,2.2,2.2,2.2(T,T,T,T)",0.0000(T),0.209,2.210357,4.14,1.07,-1.190000,0.105000,1.437000,0.525000,0.188000,0.955000,7.2686
missense_variant,HAP1,MISSENSE,NM_177977.2:p.Ser58Thr/c.172T>A,Tcc/Acc,MODERATE,COSM4130066(1),0.769968,0.8998,rs4796603,0.48(T),"0.451,0.451,0.451,0.264(P,P,P,B)",0.46(N),-1.0030(T),,chr17,39890715,39890715,A,T,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser58Thr/c.172T>A|602|HAP1|protein_coding|CODING|NM_001079870.1|1|1),missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser58Thr/c.172T>A|594|HAP1|protein_coding|CODING|NM_001079871.1|1|1),missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser58Thr/c.172T>A|619|HAP1|protein_coding|CODING|NM_177977.2|1|1)","H1ESC:PolII,HepG2:H3K4me2,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,H1ESC:TAF7,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.9233,0.8069,0.8211,0.72,0.55,0.81,,,1.000(P),"2.98,3.16,3.1,3.0(T,T,T,T)",0.0000(T),0.026,2.358092,1.1,1.1,0.383000,0.738000,0.914000,0.004000,0.003000,0.021000,4.3951
missense_variant,HAP1,MISSENSE,NM_177977.2:p.Lys4Arg/c.11A>G,aAg/aGg,MODERATE,COSM3749401(8),0.547125,0.7073,rs386595516,0.73(T),"0.007,0.007,0.007,0.002(B,B,B,B)",0.46(N),-1.0136(T),,chr17,39890876,39890876,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys4Arg/c.11A>G|602|HAP1|protein_coding|CODING|NM_001079870.1|1|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys4Arg/c.11A>G|594|HAP1|protein_coding|CODING|NM_001079871.1|1|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys4Arg/c.11A>G|619|HAP1|protein_coding|CODING|NM_177977.2|1|1)","H1ESC:PolII,HepG2:H3K4me2,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,H1ESC:p300,HSMM:H3K27me3,HepG2:TAF1,H1ESC:Jund,HepG2:DNase1,HMEC:DNase1,H1ESC:TAF7,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.7434,0.5965,0.5,0.39,0.28,0.45,,,1.000(P),"2.74,2.88,2.86,2.77(T,T,T,T)",0.0000(T),0.027,2.589197,2.8,0.545,-0.376000,0.061000,0.539000,0.001000,0.000000,0.000000,4.831
missense_variant,JUP,MISSENSE,NM_002230.2:p.Met697Leu/c.2089A>T,Atg/Ttg,MODERATE,,0.58726,0.3452,rs1126821,0.73(T),0.0(B),0.69(N),-0.9590(T),,chr17,39912145,39912145,T,A,hom,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met697Leu/c.2089A>T|745|JUP|protein_coding|CODING|NM_002230.2|14|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met697Leu/c.2089A>T|745|JUP|protein_coding|CODING|NM_021991.2|14|1),splice_region_variant(LOW|||c.2089A>T|745|JUP|protein_coding|CODING|NM_002230.2|14|1),splice_region_variant(LOW|||c.2089A>T|745|JUP|protein_coding|CODING|NM_021991.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000020467.1|RCV000039075.1|RCV000126389.1,,0.7423,0.5231,0.7435,0.70,0.61,0.74,,0.081420(N),0.000(P),"0.31,0.31,0.31(T,T,T)",0.0000(T),0.106,0.033281,4.94,1.12,0.533000,0.317000,0.962000,0.992000,1.000000,1.000000,12.1106
synonymous_variant,JUP,SILENT,NM_002230.2:p.Asp71Asp/c.213T>C,gaT/gaC,LOW,,0.715655,0.5238,rs7405731,,,,,,chr17,39925925,39925925,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp71Asp/c.213T>C|745|JUP|protein_coding|CODING|NM_002230.2|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp71Asp/c.213T>C|745|JUP|protein_coding|CODING|NM_021991.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,RCV000039076.1,,0.7382,0.5706,0.7525,0.80,0.87,0.76,,,,,,,,,,,,,,,,
missense_variant,NT5C3B,MISSENSE,NM_052935.4:p.Ser213Cys/c.638C>G,tCt/tGt,MODERATE,,0.786142,0.8323,rs1046404,0.16(T),"0.852,0.852(P,P)",1.8(L),-0.9021(T),,chr17,39983808,39983808,G,C,het,"missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser213Cys/c.638C>G|300|NT5C3B|protein_coding|CODING|NM_052935.4|8|1),non_coding_exon_variant(MODIFIER|||n.784C>G||NT5C3B||CODING|NR_033464.1|8|1),non_coding_exon_variant(MODIFIER|||n.940C>G||NT5C3B||CODING|NR_033465.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7863,0.8646,0.7296,0.76,0.76,0.76,,0.000001(D),0.000(P),"-1.57,-1.57,-1.57(D,D,D)",0.0000(T),0.309,4.713231,5.07,5.07,0.462000,2.638000,7.741000,0.802000,0.812000,1.000000,18.2446
missense_variant,NT5C3B,MISSENSE,NM_052935.4:p.Ala209Val/c.626C>T,gCg/gTg,MODERATE,COSM4130068(1),0.786142,0.8323,rs1046403,1(T),"0.001,0.001(B,B)",0.505(N),-0.9339(T),,chr17,39983820,39983820,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala209Val/c.626C>T|300|NT5C3B|protein_coding|CODING|NM_052935.4|8|1),non_coding_exon_variant(MODIFIER|||n.772C>T||NT5C3B||CODING|NR_033464.1|8|1),non_coding_exon_variant(MODIFIER|||n.928C>T||NT5C3B||CODING|NR_033465.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7863,0.8646,0.7296,0.76,0.76,0.76,,0.004309(N),0.000(P),"-1.38,-1.38,-1.38(T,T,T)",0.0000(T),0.533,0.130584,5.07,2.87,-0.605000,0.407000,2.795000,0.648000,0.060000,0.981000,9.327
synonymous_variant,NT5C3B,SILENT,NM_052935.4:p.Leu199Leu/c.597C>G,ctC/ctG,LOW,COSM4130069(1),0.701877,0.8323,rs1128966,,,,,,chr17,39983849,39983849,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu199Leu/c.597C>G|300|NT5C3B|protein_coding|CODING|NM_052935.4|8|1),non_coding_exon_variant(MODIFIER|||n.743C>G||NT5C3B||CODING|NR_033464.1|8|1),non_coding_exon_variant(MODIFIER|||n.899C>G||NT5C3B||CODING|NR_033465.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7863,0.8487,0.7276,0.68,0.51,0.76,,,,,,,,,,,,,,,,
synonymous_variant,NT5C3B,SILENT,NM_052935.4:p.Ala109Ala/c.327A>G,gcA/gcG,LOW,,0.917332,1,rs4796712,,,,,,chr17,39987130,39987130,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala109Ala/c.327A>G|300|NT5C3B|protein_coding|CODING|NM_052935.4|6|1),non_coding_exon_variant(MODIFIER|||n.473A>G||NT5C3B||CODING|NR_033464.1|6|1),non_coding_exon_variant(MODIFIER|||n.629A>G||NT5C3B||CODING|NR_033465.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9571,0.9366,0.8877,0.89,0.85,0.91,,,,,,,,,,,,,,,,
synonymous_variant,KLHL10,SILENT,NM_152467.3:p.Pro87Pro/c.261C>T,ccC/ccT,LOW,,0.778155,0.8323,rs1529933,,,,,,chr17,39998141,39998141,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro87Pro/c.261C>T|608|KLHL10|protein_coding|CODING|NM_152467.3|2|1),,,,,0.8027,0.8631,0.7396,0.76,0.74,0.77,,,,,,,,,,,,,,,,
synonymous_variant,KLHL11,SILENT,NM_018143.1:p.Tyr380Tyr/c.1140C>T,taC/taT,LOW,,0.778554,0.8313,rs3744782,,,,,,chr17,40010979,40010979,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr380Tyr/c.1140C>T|708|KLHL11|protein_coding|CODING|NM_018143.1|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8027,0.8631,0.7396,0.76,0.73,0.77,,,,,,,,,,,,,,,,
synonymous_variant,ACLY,SILENT,NM_001096.2:p.His563His/c.1689T>C,caT/caC,LOW,COSM4130073(1),0.904353,1,rs8065502,,,,,,chr17,40048613,40048613,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His563His/c.1689T>C|1101|ACLY|protein_coding|CODING|NM_001096.2|16|1),synonymous_variant(LOW|SILENT|caT/caC|p.His553His/c.1659T>C|1091|ACLY|protein_coding|CODING|NM_198830.1|15|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9755,0.9337,0.8986,0.88,0.79,0.92,,,,,,,,,,,,,,,,
synonymous_variant,CNP,SILENT,NM_033133.4:p.Gly396Gly/c.1188G>A,ggG/ggA,LOW,COSM3755547(1),0.27516,0.4157,rs2070106,,,,,,chr17,40125864,40125864,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly396Gly/c.1188G>A|421|CNP|protein_coding|CODING|NM_033133.4|4|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4151,0.2406,0.2843,0.25,0.10,0.32,,,,,,,,,,,,,,,,
synonymous_variant,ZNF385C,SILENT,NM_001242704.1:p.Pro29Pro/c.87G>A,ccG/ccA,LOW,,0.0916534,0.0268,rs60110245,,,,,,chr17,40189830,40189830,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro29Pro/c.87G>A|424|ZNF385C|protein_coding|CODING|NM_001242704.1|2|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0215,0.0562,0.0934,,,,,,,,,,,,,,,,,,,
missense_variant,DHX58,MISSENSE,NM_024119.2:p.Gln425Arg/c.1274A>G,cAg/cGg,MODERATE,COSM3755551(1),0.356829,0.1875,rs2074158,0.57(T),"0.002,0.002(B,B)",-0.58(N),-0.9389(T),,chr17,40257163,40257163,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln425Arg/c.1274A>G|678|DHX58|protein_coding|CODING|NM_024119.2|10|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2249,0.1772,0.1779,0.35,0.71,0.17,,0.160968(N),1.000(P),-0.87(T),0.0000(T),0.008,-1.586724,4.87,-4.24,-1.342000,-0.564000,-0.256000,0.143000,0.638000,0.001000,14.4174
missense_variant,DHX58,MISSENSE,NM_024119.2:p.Arg95Gln/c.284G>A,cGg/cAg,MODERATE,,0.028754,0,rs35118457,0.69(T),"0.28,0.476(B,P)",0.285(N),-1.0972(T),,chr17,40263400,40263400,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg95Gln/c.284G>A|678|DHX58|protein_coding|CODING|NM_024119.2|4|1),downstream_gene_variant(MODIFIER||1729||837|KAT2A|protein_coding|CODING|NM_021078.2||1)","K562:USF1,NHEK:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.0501,0.0303,0.0557,0.04,0.02,0.06,,0.000892(D),1.000(N),"3.53,1.28,1.28(T,T,T)",0.0066(T),0.169,3.202963,5.54,3.53,0.555000,1.362000,0.835000,0.984000,0.179000,0.157000,8.9573
missense_variant,HSPB9,MISSENSE,NM_033194.2:p.Gln2Pro/c.5A>C,cAg/cCg,MODERATE,COSM3755554(3),0.334465,0.1657,rs1122326,0(D),0.799(P),1.04(L),-0.9027(T),,chr17,40274873,40274873,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln2Pro/c.5A>C|159|HSPB9|protein_coding|CODING|NM_033194.2|1|1),upstream_gene_variant(MODIFIER||1491||837|KAT2A|protein_coding|CODING|NM_021078.2||1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.2372,0.1916,0.2326,0.35,0.60,0.22,,0.023700(U),0.693(P),-2.49(D),0.0000(T),0.182,2.513722,3.55,2.47,0.379000,0.749000,0.039000,0.037000,0.970000,0.211000,7.0866
synonymous_variant,KCNH4,SILENT,NM_012285.2:p.Ser421Ser/c.1263A>G,tcA/tcG,LOW,,0.169529,0.3522,rs939881,,,,,,chr17,40322252,40322252,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser421Ser/c.1263A>G|1017|KCNH4|protein_coding|CODING|NM_012285.2|8|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2393,0.1412,0.0815,0.08,0.07,0.09,,,,,,,,,,,,,,,,
missense_variant,GHDC,MISSENSE,NM_032484.4:p.Arg94Leu/c.281G>T,cGg/cTg,MODERATE,,0.000599042,0,rs149568450,0.58(T),"0.993,0.991,0.947(D,D,D)",1.1(L),-0.8304(T),,chr17,40345030,40345030,C,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg94Leu/c.281G>T|474|GHDC|protein_coding|CODING|NM_001142623.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg94Leu/c.281G>T|530|GHDC|protein_coding|CODING|NM_032484.4|4|1),missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg94Leu/c.281G>T|491|GHDC|protein_coding|CODING|NM_001142622.1|4|1),non_coding_exon_variant(MODIFIER|||n.765G>T||GHDC||CODING|NR_024573.1|3|1)","K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0,0,0.003,0.00,0.00,0.00,,0.007384(N),0.934(D),,0.1926(T),0.718,3.548857,4.77,3.8,0.561000,1.237000,1.429000,0.981000,1.000000,1.000000,8.5337
synonymous_variant,STAT5A,SILENT,NM_001288718.1:p.Asp634Asp/c.1902C>T,gaC/gaT,LOW,,0.241014,0.371,rs1135669,,,,,,chr17,40459737,40459737,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp634Asp/c.1902C>T|794|STAT5A|protein_coding|CODING|NM_001288718.1|15|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp604Asp/c.1812C>T|764|STAT5A|protein_coding|CODING|NM_001288719.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp603Asp/c.1809C>T|763|STAT5A|protein_coding|CODING|NM_001288720.1|14|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp634Asp/c.1902C>T|794|STAT5A|protein_coding|CODING|NM_003152.3|16|1)","K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.3272,0.0908,0.1889,0.18,0.19,0.17,,,,,,,,,,,,,,,,
synonymous_variant,ATP6V0A1,SILENT,NM_001130020.1:p.Gly233Gly/c.699C>T,ggC/ggT,LOW,,0.0175719,0,rs41283429,,,,,,chr17,40632729,40632729,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly233Gly/c.699C>T|838|ATP6V0A1|protein_coding|CODING|NM_001130020.1|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly226Gly/c.678C>T|837|ATP6V0A1|protein_coding|CODING|NM_001130021.1|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly226Gly/c.678C>T|831|ATP6V0A1|protein_coding|CODING|NM_005177.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0235,0.0259,0.0368,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,NAGLU,SILENT,NM_000263.3:p.Ser141Ser/c.423T>C,tcT/tcC,LOW,,0.997604,1,rs659497,,,,,,chr17,40689455,40689455,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser141Ser/c.423T>C|743|NAGLU|protein_coding|CODING|NM_000263.3|2|1),"K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,HSMM:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,GM06990:H3K4me3,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2",,RCV000078458.1,,0.999,0.9971,0.993,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,NAGLU,MISSENSE,NM_000263.3:p.Arg737Gly/c.2209C>G,Cgc/Ggc,MODERATE,,0.859225,0.999,rs86312,0.21(T),0.128(B),0.695(N),-0.9025(T),,chr17,40696233,40696233,C,G,het,missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg737Gly/c.2209C>G|743|NAGLU|protein_coding|CODING|NM_000263.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,"RCV000078456.1,RCV000078457.1",,0.9387,0.9308,0.9344,0.85,0.66,0.94,,0.597366(N),0.994(P),-5.4(D),0.0000(T),0.123,1.441971,4.01,4.01,0.561000,2.524000,0.878000,0.519000,0.901000,0.600000,9.3374
missense_variant,PLEKHH3,MISSENSE,NM_024927.4:p.Gln547His/c.1641G>T,caG/caT,MODERATE,,0.977835,0.999,rs8071056,0.53(T),"0.0,0.0(B,B)",-0.625(N),-1.0152(T),,chr17,40822308,40822308,C,A,het,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln547His/c.1641G>T|793|PLEKHH3|protein_coding|CODING|NM_024927.4|11|1),non_coding_exon_variant(MODIFIER|||n.2108G>T||PLEKHH3||CODING|NR_073573.1|11|1),non_coding_exon_variant(MODIFIER|||n.1480G>T||PLEKHH3||CODING|NR_073574.1|11|1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,H1ESC:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.9744,0.9741,0.9533,,,,,0.170710(N),0.000(P),,0.0000(T),0.545,0.440315,4.35,2.37,-0.952000,0.145000,0.620000,0.942000,0.990000,0.709000,4.8279
synonymous_variant,PLEKHH3,SILENT,NM_024927.4:p.Gly489Gly/c.1467G>A,ggG/ggA,LOW,,0.212859,0.5347,rs2277618,,,,,,chr17,40822678,40822678,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly489Gly/c.1467G>A|793|PLEKHH3|protein_coding|CODING|NM_024927.4|10|1),non_coding_exon_variant(MODIFIER|||n.1934G>A||PLEKHH3||CODING|NR_073573.1|10|1),non_coding_exon_variant(MODIFIER|||n.1306G>A||PLEKHH3||CODING|NR_073574.1|10|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,H1ESC:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.2106,0.2378,0.1421,0.09,0.03,0.13,,,,,,,,,,,,,,,,
missense_variant,PLEKHH3,MISSENSE,NM_024927.4:p.Arg281Trp/c.841C>T,Cgg/Tgg,MODERATE,,0.00219649,0,rs200210041,0.02(D),"0.998,0.999(D,D)",1.1(L),0.4631(D),,chr17,40824339,40824339,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg281Trp/c.841C>T|793|PLEKHH3|protein_coding|CODING|NM_024927.4|7|1),intron_variant(MODIFIER|||n.798-109C>T||PLEKHH3||CODING|NR_073574.1|6|1),non_coding_exon_variant(MODIFIER|||n.1308C>T||PLEKHH3||CODING|NR_073573.1|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.002,0.0014,0.008,0.01,0.00,0.01,,0.000363(D),1.000(D),"-2.06,-2.37(D,D)",0.6552(D),0.703,5.272087,5.41,4.43,0.655000,1.486000,2.205000,0.995000,1.000000,0.977000,15.2543
synonymous_variant,CNTNAP1,SILENT,NM_003632.2:p.Arg51Arg/c.151A>C,Aga/Cga,LOW,COSM1383417(4),0.578275,0.4663,rs2271029,,,,,,chr17,40835922,40835922,A,C,het,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg51Arg/c.151A>C|1384|CNTNAP1|protein_coding|CODING|NM_003632.2|2|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.7014,0.5245,0.5775,0.60,0.60,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CNTNAP1,SILENT,NM_003632.2:p.Arg621Arg/c.1861C>A,Cga/Aga,LOW,,0.0395367,0,rs1553469,,,,,,chr17,40842762,40842762,C,A,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg621Arg/c.1861C>A|1384|CNTNAP1|protein_coding|CODING|NM_003632.2|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0337,0.1196,0.0497,0.06,0.03,0.07,,,,,,,,,,,,,,,,
synonymous_variant,RAMP2,SILENT,NM_005854.2:p.Leu29Leu/c.87C>T,ctC/ctT,LOW,,0.382588,0.5198,rs9892728,,,,,,chr17,40913366,40913366,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu29Leu/c.87C>T|175|RAMP2|protein_coding|CODING|NM_005854.2|1|1),upstream_gene_variant(MODIFIER||91|||RAMP2-AS1||NON_CODING|NR_024461.1||1),upstream_gene_variant(MODIFIER||91|||RAMP2-AS1||NON_CODING|NR_024462.1||1)","HepG2:H3K4me2,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.3333,0.5504,0.4861,,,,,,,,,,,,,,,,,,,
missense_variant,WNK4,MISSENSE,NM_032387.4:p.Arg736Gln/c.2207G>A,cGg/cAg,MODERATE,COSM4066670(1),0.000599042,0,rs149389156,0.33(T),"0.996,0.999,0.994,0.994(D,D,D,D)",0.45(N),-1.0134(T),,chr17,40945659,40945659,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg736Gln/c.2207G>A|1243|WNK4|protein_coding|CODING|NM_032387.4|12|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0,0,0.003,0.00,0.00,0.00,,0.001346(N),0.974(D),1.54(T),0.1033(T),0.355,2.051685,4.46,4.46,0.561000,2.302000,4.694000,0.868000,0.996000,0.964000,16.0356
missense_variant,AOC2,MISSENSE,NM_009590.2:p.Ile5Val/c.13A>G,Ata/Gta,MODERATE,,0.00519169,0,rs34230945,1(T),"0.0,0.001(B,B)",0(N),-0.9398(T),,chr17,40996656,40996656,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile5Val/c.13A>G|729|AOC2|protein_coding|CODING|NM_001158.3|1|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile5Val/c.13A>G|756|AOC2|protein_coding|CODING|NM_009590.2|1|1),downstream_gene_variant(MODIFIER||879||265|PSME3|protein_coding|CODING|NM_001267045.1||1),downstream_gene_variant(MODIFIER||879||254|PSME3|protein_coding|CODING|NM_005789.3||1),downstream_gene_variant(MODIFIER||879||267|PSME3|protein_coding|CODING|NM_176863.2||1),downstream_gene_variant(MODIFIER||879|||PSME3||CODING|NR_049772.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0031,0.0086,0.0169,0.02,0.01,0.03,,0.464182(N),1.000(N),"4.64,4.64(T,T)",0.0012(T),0.017,-1.172883,5.3,2.18,0.533000,0.327000,1.238000,0.986000,0.983000,0.908000,3.5251
synonymous_variant,PTGES3L-AARSD1,SILENT,NM_001136042.2:p.Ser194Ser/c.582C>T,tcC/tcT,LOW,,0.929513,1,rs690941,,,,-1.0019(T),,chr17,41116234,41116234,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser194Ser/c.582C>T|586|PTGES3L-AARSD1|protein_coding|CODING|NM_001136042.2|7|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser20Ser/c.60C>T|412|AARSD1|protein_coding|CODING|NM_001261434.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser133Ser/c.399C>T|525|PTGES3L-AARSD1|protein_coding|CODING|NM_025267.3|7|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:Max,GM12878:DNase1,K562:HEY1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,1,0.9784,1,0.93,0.78,1.00,,,,,0.0000(T),.,0.871445,5.52,2.37,0.442000,0.678000,0.666000,0.531000,0.998000,1.000000,6.8713
missense_variant,PTGES3L-AARSD1,MISSENSE,NM_001136042.2:p.Arg58Met/c.173G>T,aGg/aTg,MODERATE,COSM1563824(1),0.104233,0,rs35444712,,,1.1(L),-0.9912(T),,chr17,41131645,41131645,C,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg58Met/c.173G>T|586|PTGES3L-AARSD1|protein_coding|CODING|NM_001136042.2|2|1),missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg58Met/c.173G>T|166|PTGES3L|protein_coding|CODING|NM_001142653.1|2|1),missense_variant(MODERATE|MISSENSE|aGg/aTg|p.Arg58Met/c.173G>T|199|PTGES3L|protein_coding|CODING|NM_001261430.1|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||525|PTGES3L-AARSD1|protein_coding|CODING|NM_025267.3|2|1),5_prime_UTR_variant(MODIFIER||11|c.-11G>T|525|PTGES3L-AARSD1|protein_coding|CODING|NM_025267.3|2|1),upstream_gene_variant(MODIFIER||937||613|RUNDC1|protein_coding|CODING|NM_173079.2||1),intron_variant(MODIFIER|||c.138-184G>T|161|PTGES3L|protein_coding|CODING|NM_001142654.1|1|1)","K562:Max,K562:H3K4me3,HepG2:H3K4me2,K562:H3K27ac,HeLa-S3:H3K9ac,K562:H3K4me1,H1ESC:H3K4me2,HeLa-S3:H3K4me2,K562:E2F6,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,K562:H2AZ",,,,0.0256,0.0778,0.0954,0.13,0.24,0.08,,,,,0.0000(T),.,4.031603,5.02,2.82,-0.255000,0.397000,0.833000,0.989000,1.000000,0.991000,7.3946
missense_variant,RUNDC1,MISSENSE,NM_173079.2:p.Trp160Arg/c.478T>C,Tgg/Cgg,MODERATE,COSM3755558(9),0.926917,1,rs1708875,0.73(T),0.0(B),-0.69(N),-0.9957(T),,chr17,41133071,41133071,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp160Arg/c.478T>C|613|RUNDC1|protein_coding|CODING|NM_173079.2|1|1),upstream_gene_variant(MODIFIER||1051||525|PTGES3L-AARSD1|protein_coding|CODING|NM_025267.3||1),upstream_gene_variant(MODIFIER||526||586|PTGES3L-AARSD1|protein_coding|CODING|NM_001136042.2||1),upstream_gene_variant(MODIFIER||526||166|PTGES3L|protein_coding|CODING|NM_001142653.1||1),upstream_gene_variant(MODIFIER||526||161|PTGES3L|protein_coding|CODING|NM_001142654.1||1),upstream_gene_variant(MODIFIER||526||199|PTGES3L|protein_coding|CODING|NM_001261430.1||1)","NHEK:CTCF,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,1,0.9784,1,0.94,0.82,1.00,,0.363133(N),1.000(P),-0.4(T),0.0000(T),0.059,-0.385999,4.73,1.47,-1.016000,0.237000,-0.234000,0.391000,0.915000,0.000000,6.0769
missense_variant,IFI35,MISSENSE,NM_005533.4:p.Met128Val/c.382A>G,Atg/Gtg,MODERATE,,0.975439,1,rs588703,,,-1.86(N),-0.9709(T),,chr17,41165493,41165493,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met128Val/c.382A>G|288|IFI35|protein_coding|CODING|NM_005533.4|5|1),splice_region_variant(LOW|||c.382A>G|288|IFI35|protein_coding|CODING|NM_005533.4|5|1),downstream_gene_variant(MODIFIER||1129||393|VAT1|protein_coding|CODING|NM_006373.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9856,1,0.98,0.93,1.00,,0.003110(N),0.998(P),"1.39,1.23(T,T)",0.0000(T),0.046,0.058402,5.08,4.12,-0.215000,0.747000,1.204000,0.790000,0.998000,1.000000,7.35
synonymous_variant,IFI35,SILENT,NM_005533.4:p.Asn218Asn/c.654C>T,aaC/aaT,LOW,,0.97524,1,rs13229,,,,,,chr17,41165878,41165878,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn218Asn/c.654C>T|288|IFI35|protein_coding|CODING|NM_005533.4|6|1),downstream_gene_variant(MODIFIER||744||393|VAT1|protein_coding|CODING|NM_006373.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9856,1,0.98,0.93,1.00,,,,,,,,,,,,,,,,
synonymous_variant,VAT1,SILENT,NM_006373.3:p.Pro105Pro/c.315T>G,ccT/ccG,LOW,COSM436660(2),0.342652,0.374,rs2070835,,,,,,chr17,41174025,41174025,A,C,het,synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro105Pro/c.315T>G|393|VAT1|protein_coding|CODING|NM_006373.3|1|1),"K562:ZBTB7A,NHEK:H3K9ac,CD4:H2AZ,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.4939,0.2939,0.3559,0.27,0.22,0.30,,,,,,,,,,,,,,,,
missense_variant,BRCA1,MISSENSE,NM_007300.3:p.Ser1634Gly/c.4900A>G,Agt/Ggt,MODERATE,COSM3755560(1),0.355831,0.372,rs1799966,0.05(D),"0.003,0.079,0.002,0.115,0.003,0.003,0.038,0.006(B,B,B,B,B,B,B,B)",1.04(L),-1.0796(T),,chr17,41223094,41223094,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser1613Gly/c.4837A>G|1863|BRCA1|protein_coding|CODING|NM_007294.3|15|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser1566Gly/c.4696A>G|1816|BRCA1|protein_coding|CODING|NM_007297.3|14|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser509Gly/c.1525A>G|759|BRCA1|protein_coding|CODING|NM_007298.3|14|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser509Gly/c.1525A>G|699|BRCA1|protein_coding|CODING|NM_007299.3|15|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser1634Gly/c.4900A>G|1884|BRCA1|protein_coding|CODING|NM_007300.3|16|1),non_coding_exon_variant(MODIFIER|||n.4973A>G||BRCA1||CODING|NR_027676.1|15|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,"RCV000031194.3|RCV000048673.2|RCV000130704.1,RCV000034753.2|RCV000048672.4|RCV000112410.2|RCV000119096.1|RCV000120260.1|RCV000128996.1",,0.498,0.3746,0.3598,0.30,0.24,0.33,,0.372123(N),1.000(P),"-1.93,-1.93,-1.93,-1.93,-1.93,-1.93,-1.93,-1.93,-1.93,-1.93(D,D,D,D,D,D,D,D,D,D)",0.0000(T),0.454,1.651916,4.92,1.5,0.533000,0.128000,-0.112000,0.007000,0.000000,0.000000,6.8942
synonymous_variant,BRCA1,SILENT,NM_007300.3:p.Ser1436Ser/c.4308T>C,tcT/tcC,LOW,,0.336262,0.371,rs1060915,,,,-0.9315(T),,chr17,41234470,41234470,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1436Ser/c.4308T>C|1863|BRCA1|protein_coding|CODING|NM_007294.3|12|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1389Ser/c.4167T>C|1816|BRCA1|protein_coding|CODING|NM_007297.3|11|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser333Ser/c.999T>C|759|BRCA1|protein_coding|CODING|NM_007298.3|11|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser333Ser/c.999T>C|699|BRCA1|protein_coding|CODING|NM_007299.3|12|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser1436Ser/c.4308T>C|1884|BRCA1|protein_coding|CODING|NM_007300.3|12|1),non_coding_exon_variant(MODIFIER|||n.4444T>C||BRCA1||CODING|NR_027676.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000112313.2|RCV000114988.1|RCV000123918.1|RCV000128938.1,,0.4969,0.3646,0.3579,0.28,0.19,0.33,,,1.000(P),,0.0000(T),.,0.566994,5.26,0.257,0.533000,0.129000,-0.119000,0.190000,0.000000,0.000000,2.9468
missense_variant,BRCA1,MISSENSE,NM_007300.3:p.Lys1183Arg/c.3548A>G,aAa/aGa,MODERATE,COSM3755561(3),0.352636,0.371,rs16942,1(T),"0.0,0.0,0.001,0.002,0.001,0.002(B,B,B,B,B,B)",-1.085(N),-1.0241(T),,chr17,41244000,41244000,T,C,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1183Arg/c.3548A>G|1863|BRCA1|protein_coding|CODING|NM_007294.3|10|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1136Arg/c.3407A>G|1816|BRCA1|protein_coding|CODING|NM_007297.3|9|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys1183Arg/c.3548A>G|1884|BRCA1|protein_coding|CODING|NM_007300.3|10|1),intron_variant(MODIFIER|||c.788-951A>G|759|BRCA1|protein_coding|CODING|NM_007298.3|9|1),intron_variant(MODIFIER|||c.788-951A>G|699|BRCA1|protein_coding|CODING|NM_007299.3|10|1),non_coding_exon_variant(MODIFIER|||n.3684A>G||BRCA1||CODING|NR_027676.1|10|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000034742.2|RCV000048229.3|RCV000112115.2|RCV000120278.1|RCV000128991.1,,0.498,0.3746,0.3549,0.30,0.24,0.32,,0.151790(N),1.000(P),"-0.35,-0.35,-0.35,-0.35,-0.35,-0.35(T,T,T,T,T,T)",0.0000(T),0.258,-2.282426,5.31,-2.35,-0.726000,-0.437000,-0.365000,0.004000,0.003000,0.000000,7.8272
missense_variant,BRCA1,MISSENSE,NM_007300.3:p.Glu1038Gly/c.3113A>G,gAa/gGa,MODERATE,COSM3755563(1),0.335663,0.371,rs16941,0.04(D),"0.006,0.006,0.118,0.177,0.606,0.065(B,B,B,B,P,B)",2.54(M),-1.0940(T),,chr17,41244435,41244435,T,C,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu1038Gly/c.3113A>G|1863|BRCA1|protein_coding|CODING|NM_007294.3|10|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu991Gly/c.2972A>G|1816|BRCA1|protein_coding|CODING|NM_007297.3|9|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu1038Gly/c.3113A>G|1884|BRCA1|protein_coding|CODING|NM_007300.3|10|1),intron_variant(MODIFIER|||c.788-1386A>G|759|BRCA1|protein_coding|CODING|NM_007298.3|9|1),intron_variant(MODIFIER|||c.788-1386A>G|699|BRCA1|protein_coding|CODING|NM_007299.3|10|1),non_coding_exon_variant(MODIFIER|||n.3249A>G||BRCA1||CODING|NR_027676.1|10|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000034738.2|RCV000112006.2|RCV000114987.1|RCV000120276.1|RCV000128978.1,,0.498,0.3646,0.3569,0.28,0.19,0.33,,0.155009(N),1.000(P),"-1.24,-1.24,-1.24,-1.24,-1.24,-1.24(T,T,T,T,T,T)",0.0000(T),0.252,1.803390,5.23,-0.974,0.455000,0.112000,-0.480000,0.856000,0.509000,0.000000,6.1615
missense_variant,BRCA1,MISSENSE,NM_007300.3:p.Pro871Leu/c.2612C>T,cCg/cTg,MODERATE,COSM148278(3),0.54393,0.371,rs386614652,1(T),"0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",-3.395(N),-0.9367(T),,chr17,41244936,41244936,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro871Leu/c.2612C>T|1863|BRCA1|protein_coding|CODING|NM_007294.3|10|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro824Leu/c.2471C>T|1816|BRCA1|protein_coding|CODING|NM_007297.3|9|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro871Leu/c.2612C>T|1884|BRCA1|protein_coding|CODING|NM_007300.3|10|1),intron_variant(MODIFIER|||c.787+1825C>T|759|BRCA1|protein_coding|CODING|NM_007298.3|9|1),intron_variant(MODIFIER|||c.787+1825C>T|699|BRCA1|protein_coding|CODING|NM_007299.3|10|1),non_coding_exon_variant(MODIFIER|||n.2748C>T||BRCA1||CODING|NR_027676.1|10|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5297,0.428,0.3628,0.49,0.80,0.34,,0.001340(N),0.000(P),"-0.05,-0.05,-0.05,-0.05,-0.05,-0.05(T,T,T,T,T,T)",0.0000(T),0.255,-0.374065,5.04,5.04,-0.524000,0.938000,4.246000,0.855000,1.000000,1.000000,9.647
synonymous_variant,BRCA1,SILENT,NM_007300.3:p.Leu771Leu/c.2311T>C,Ttg/Ctg,LOW,COSM3755566(1),0.335264,0.371,rs16940,,,,,,chr17,41245237,41245237,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu771Leu/c.2311T>C|1863|BRCA1|protein_coding|CODING|NM_007294.3|10|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu724Leu/c.2170T>C|1816|BRCA1|protein_coding|CODING|NM_007297.3|9|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu771Leu/c.2311T>C|1884|BRCA1|protein_coding|CODING|NM_007300.3|10|1),intron_variant(MODIFIER|||c.787+1524T>C|759|BRCA1|protein_coding|CODING|NM_007298.3|9|1),intron_variant(MODIFIER|||c.787+1524T>C|699|BRCA1|protein_coding|CODING|NM_007299.3|10|1),non_coding_exon_variant(MODIFIER|||n.2447T>C||BRCA1||CODING|NR_027676.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000111822.2|RCV000114985.1|RCV000123904.1|RCV000128982.1,,0.498,0.3674,0.3529,0.28,0.19,0.32,,,,,,,,,,,,,,,,
synonymous_variant,BRCA1,SILENT,NM_007300.3:p.Ser694Ser/c.2082C>T,agC/agT,LOW,COSM148280(2),0.336462,0.371,rs1799949,,,,,,chr17,41245466,41245466,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser694Ser/c.2082C>T|1863|BRCA1|protein_coding|CODING|NM_007294.3|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser647Ser/c.1941C>T|1816|BRCA1|protein_coding|CODING|NM_007297.3|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser694Ser/c.2082C>T|1884|BRCA1|protein_coding|CODING|NM_007300.3|10|1),intron_variant(MODIFIER|||c.787+1295C>T|759|BRCA1|protein_coding|CODING|NM_007298.3|9|1),intron_variant(MODIFIER|||c.787+1295C>T|699|BRCA1|protein_coding|CODING|NM_007299.3|10|1),non_coding_exon_variant(MODIFIER|||n.2218C>T||BRCA1||CODING|NR_027676.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000111763.2|RCV000114984.1|RCV000123900.1|RCV000128966.1,,0.4969,0.353,0.3002,0.30,0.24,0.32,,,,,,,,,,,,,,,,
missense_variant,BRCA1,MISSENSE,NM_007300.3:p.Asp693Asn/c.2077G>A,Gac/Aac,MODERATE,,0.0335463,0,rs386597001,0.01(D),"0.033,0.033,0.009,0.01,0.01,0.006(B,B,B,B,B,B)",0.55(N),-0.9508(T),,chr17,41245471,41245471,C,T,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp693Asn/c.2077G>A|1863|BRCA1|protein_coding|CODING|NM_007294.3|10|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp646Asn/c.1936G>A|1816|BRCA1|protein_coding|CODING|NM_007297.3|9|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp693Asn/c.2077G>A|1884|BRCA1|protein_coding|CODING|NM_007300.3|10|1),intron_variant(MODIFIER|||c.787+1290G>A|759|BRCA1|protein_coding|CODING|NM_007298.3|9|1),intron_variant(MODIFIER|||c.787+1290G>A|699|BRCA1|protein_coding|CODING|NM_007299.3|10|1),non_coding_exon_variant(MODIFIER|||n.2213G>A||BRCA1||CODING|NR_027676.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,"RCV000111759.1,RCV000034730.2|RCV000047702.3|RCV000111758.2|RCV000120289.1|RCV000129094.1",,0.0297,0.0576,0.0835,0.05,0.02,0.07,,0.806191(N),1.000(P),"-1.41,-1.41,-1.41,-1.41,-1.41,-1.41(T,T,T,T,T,T)",0.0226(T),0.265,1.645472,5.51,1.23,0.561000,0.125000,0.186000,0.735000,0.000000,0.000000,2.9151
missense_variant,NBR1,MISSENSE,NM_005899.4:p.His923Arg/c.2768A>G,cAt/cGt,MODERATE,COSM3755570(1),0.357029,0.373,rs8482,0.57(T),0.4(B),1.87(L),-0.9054(T),,chr17,41361960,41361960,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His923Arg/c.2768A>G|966|NBR1|protein_coding|CODING|NM_005899.4|21|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His923Arg/c.2768A>G|966|NBR1|protein_coding|CODING|NM_031862.3|21|1),3_prime_UTR_variant(MODIFIER||27|c.*27A>G|837|NBR1|protein_coding|CODING|NM_001291572.1|18|1),upstream_gene_variant(MODIFIER||1886||262|TMEM106A|protein_coding|CODING|NM_001291586.1||1),upstream_gene_variant(MODIFIER||1886||214|TMEM106A|protein_coding|CODING|NM_001291587.1||1),upstream_gene_variant(MODIFIER||1886||215|TMEM106A|protein_coding|CODING|NM_001291588.1||1),upstream_gene_variant(MODIFIER||1886||262|TMEM106A|protein_coding|CODING|NM_145041.3||1),downstream_gene_variant(MODIFIER||84||937|NBR1|protein_coding|CODING|NM_001291571.1||1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5,0.3775,0.3638,0.31,0.25,0.33,,,0.000(P),"1.05,1.05,1.05(T,T,T)",0.0000(T),0.161,2.026576,5.86,5.86,0.533000,2.241000,3.466000,0.995000,1.000000,1.000000,6.1609
synonymous_variant,MPP2,SILENT,NM_001278370.1:p.Gln220Gln/c.660A>G,caA/caG,LOW,COSM4130124(1),0.920927,1,rs124721,,,,,,chr17,41959808,41959808,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln220Gln/c.660A>G|597|MPP2|protein_coding|CODING|NM_001278370.1|6|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln164Gln/c.492A>G|541|MPP2|protein_coding|CODING|NM_001278371.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln199Gln/c.597A>G|576|MPP2|protein_coding|CODING|NM_001278372.1|7|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln164Gln/c.492A>G|541|MPP2|protein_coding|CODING|NM_001278373.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln36Gln/c.108A>G|413|MPP2|protein_coding|CODING|NM_001278374.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln164Gln/c.492A>G|541|MPP2|protein_coding|CODING|NM_001278375.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln192Gln/c.576A>G|569|MPP2|protein_coding|CODING|NM_001278376.2|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln175Gln/c.525A>G|552|MPP2|protein_coding|CODING|NM_001278381.1|7|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln175Gln/c.525A>G|552|MPP2|protein_coding|CODING|NM_005374.4|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.907,0.9294,0.8439,0.88,0.91,0.86,,,,,,,,,,,,,,,,
synonymous_variant,MPP2,SILENT,NM_001278370.1:p.Thr172Thr/c.516A>G,acA/acG,LOW,,0.826278,1,rs124719,,,,,,chr17,41960343,41960343,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr172Thr/c.516A>G|597|MPP2|protein_coding|CODING|NM_001278370.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr116Thr/c.348A>G|541|MPP2|protein_coding|CODING|NM_001278371.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr151Thr/c.453A>G|576|MPP2|protein_coding|CODING|NM_001278372.1|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr116Thr/c.348A>G|541|MPP2|protein_coding|CODING|NM_001278373.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr116Thr/c.348A>G|541|MPP2|protein_coding|CODING|NM_001278375.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr144Thr/c.432A>G|569|MPP2|protein_coding|CODING|NM_001278376.2|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr127Thr/c.381A>G|552|MPP2|protein_coding|CODING|NM_001278381.1|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr127Thr/c.381A>G|552|MPP2|protein_coding|CODING|NM_005374.4|5|1),5_prime_UTR_variant(MODIFIER||37|c.-37A>G|413|MPP2|protein_coding|CODING|NM_001278374.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9059,0.9006,0.838,0.78,0.63,0.86,,,,,,,,,,,,,,,,
missense_variant,MPP2,MISSENSE,NM_001278370.1:p.Val126Leu/c.376G>C,Gtg/Ctg,MODERATE,,1,1,rs412849,0.83(T),"0.001,0.001,0.002(B,B,B)",-0.345(N),-0.9924(T),,chr17,41960633,41960633,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val126Leu/c.376G>C|597|MPP2|protein_coding|CODING|NM_001278370.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val70Leu/c.208G>C|541|MPP2|protein_coding|CODING|NM_001278371.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val105Leu/c.313G>C|576|MPP2|protein_coding|CODING|NM_001278372.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val70Leu/c.208G>C|541|MPP2|protein_coding|CODING|NM_001278373.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val70Leu/c.208G>C|541|MPP2|protein_coding|CODING|NM_001278375.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val98Leu/c.292G>C|569|MPP2|protein_coding|CODING|NM_001278376.2|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val81Leu/c.241G>C|552|MPP2|protein_coding|CODING|NM_001278381.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val81Leu/c.241G>C|552|MPP2|protein_coding|CODING|NM_005374.4|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||413|MPP2|protein_coding|CODING|NM_001278374.1|3|1),5_prime_UTR_variant(MODIFIER||327|c.-177G>C|413|MPP2|protein_coding|CODING|NM_001278374.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,0.000(P),"3.02,3.2,3.07,3.03,3.03,3.19,1.04,1.13,1.13,1.16,1.1(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.26,-1.173283,4.03,4.03,-0.233000,0.930000,0.435000,0.118000,0.982000,0.997000,10.507
missense_variant,MPP2,MISSENSE,NM_001278370.1:p.His125Gln/c.375C>G,caC/caG,MODERATE,,1,1,rs440755,0.73(T),"0.0,0.0,0.001(B,B,B)",0(N),-0.9942(T),,chr17,41960634,41960634,G,C,hom,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His125Gln/c.375C>G|597|MPP2|protein_coding|CODING|NM_001278370.1|4|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His69Gln/c.207C>G|541|MPP2|protein_coding|CODING|NM_001278371.1|3|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His104Gln/c.312C>G|576|MPP2|protein_coding|CODING|NM_001278372.1|5|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His69Gln/c.207C>G|541|MPP2|protein_coding|CODING|NM_001278373.1|3|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His69Gln/c.207C>G|541|MPP2|protein_coding|CODING|NM_001278375.1|3|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His97Gln/c.291C>G|569|MPP2|protein_coding|CODING|NM_001278376.2|3|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His80Gln/c.240C>G|552|MPP2|protein_coding|CODING|NM_001278381.1|5|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His80Gln/c.240C>G|552|MPP2|protein_coding|CODING|NM_005374.4|4|1),5_prime_UTR_variant(MODIFIER||328|c.-178C>G|413|MPP2|protein_coding|CODING|NM_001278374.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,0.000(P),"3.07,3.24,3.07,3.07,3.07,3.23,1.1,1.08,1.08,1.1,1.08(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.226,-1.033605,4.03,3.03,-0.233000,0.354000,1.440000,0.125000,0.955000,0.998000,2.6276
splice_donor_variant,MPP2,protein_coding,NM_001278372.1:c.223A>G,,HIGH,,0.921126,1,rs231518,,,,,MPP2:0.11(9);,chr17,41961451,41961451,T,C,hom,"splice_donor_variant(HIGH|||c.223A>G|576|MPP2|protein_coding|CODING|NM_001278372.1|4|1),intron_variant(MODIFIER|||c.222+1A>G|576|MPP2|protein_coding|CODING|NM_001278372.1|4|1),intron_variant(MODIFIER|||c.286-728A>G|597|MPP2|protein_coding|CODING|NM_001278370.1|3|1),intron_variant(MODIFIER|||c.118-728A>G|541|MPP2|protein_coding|CODING|NM_001278371.1|2|1),intron_variant(MODIFIER|||c.118-728A>G|541|MPP2|protein_coding|CODING|NM_001278373.1|2|1),intron_variant(MODIFIER|||c.118-728A>G|541|MPP2|protein_coding|CODING|NM_001278375.1|2|1),intron_variant(MODIFIER|||c.202-728A>G|569|MPP2|protein_coding|CODING|NM_001278376.2|2|1),intron_variant(MODIFIER|||c.151-728A>G|552|MPP2|protein_coding|CODING|NM_001278381.1|4|1),intron_variant(MODIFIER|||c.151-728A>G|552|MPP2|protein_coding|CODING|NM_005374.4|3|1),intron_variant(MODIFIER|||c.-267-728A>G|413|MPP2|protein_coding|CODING|NM_001278374.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.908,0.9294,0.8439,,,,,,,,,,,,,,,,,,,
missense_variant,PYY,MISSENSE,NM_004160.4:p.Thr72Arg/c.215C>G,aCg/aGg,MODERATE,COSM3766098(1),0.54373,0.3343,rs1058046,0.07(T),0.029(B),,-1.0489(T),,chr17,42030531,42030531,G,C,hom,missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr72Arg/c.215C>G|97|PYY|protein_coding|CODING|NM_004160.4|6|1),"H1ESC:PolII,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:SP1,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.728,0.5519,0.6909,0.59,0.45,0.66,,,1.000(P),2.49(T),0.0000(T),0.064,1.560590,3.75,1.58,0.561000,0.211000,0.144000,0.001000,0.000000,0.000000,5.9892
missense_variant,PYY,MISSENSE,NM_004160.4:p.Arg37Gly/c.109C>G,Cgc/Ggc,MODERATE,COSM4130126(2),1,1,rs229969,1(T),0.0(B),,-0.9554(T),,chr17,42030743,42030743,G,C,hom,missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg37Gly/c.109C>G|97|PYY|protein_coding|CODING|NM_004160.4|5|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,1,1,1,,,,,,1.000(P),1.61(T),0.0000(T),0.175,-0.544086,4.73,2.43,-0.232000,0.992000,2.522000,0.636000,0.071000,0.934000,5.4204
synonymous_variant,NAGS,SILENT,NM_153006.2:p.Phe362Phe/c.1086T>C,ttT/ttC,LOW,,0.106829,0.0139,rs55708447,,,,,,chr17,42084067,42084067,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe362Phe/c.1086T>C|534|NAGS|protein_coding|CODING|NM_153006.2|4|1),"K562:ZBTB7A,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:E2F6,HeLa-S3:PolII,HepG2:H3K36me3,HMEC:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1145,0.111,0.2097,0.15,0.10,0.18,,,,,,,,,,,,,,,,
synonymous_variant,TMEM101,SILENT,NM_032376.2:p.Leu18Leu/c.54G>A,ttG/ttA,LOW,,0.00858626,0,rs35301047,,,,,,chr17,42092267,42092267,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu18Leu/c.54G>A|257|TMEM101|protein_coding|CODING|NM_032376.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:CBP,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,K562:Tr4,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:ETS1,CD4:MOF,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:SP1,CD4:H4K8ac,GM12878:SIX5,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,GM12878:BCLAF1,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:THAP1,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:FOSL2,K562:Yy1,CD4:CTCF,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:Tr4,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,K562:BCLAF1,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,IMR90:H4K8ac",,,,0.001,0.0058,0.005,0.01,0.03,0.01,,,,,,,,,,,,,,,,
missense_variant,HDAC5,MISSENSE,NM_001015053.1:p.Asp594Glu/c.1782C>G,gaC/gaG,MODERATE,COSM3736164(3),0.754593,0.8403,rs111154781,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.245(N),-1.0146(T),,chr17,42164885,42164885,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp594Glu/c.1782C>G|1123|HDAC5|protein_coding|CODING|NM_001015053.1|13|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp593Glu/c.1779C>G|1122|HDAC5|protein_coding|CODING|NM_005474.4|13|1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HMEC:H3K9ac,NHEK:H3K4me1,K562:H3K4me1,GM12878:H3K36me3,H1ESC:H3K27ac,H1ESC:DNase1,HMEC:H3K27ac,K562:Znf263,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,GM06990:H3K36me3",,,,0.8988,0.8285,0.7515,0.68,0.58,0.73,,0.005724(N),1.000(P),"2.89,2.89,2.89(T,T,T)",0.0000(T),0.031,-1.750464,4.6,1.44,-1.471000,-0.178000,0.121000,0.100000,0.005000,0.910000,2.2779
missense_variant,C17orf53,MISSENSE,NM_024032.3:p.Thr126Pro/c.376A>C,Aca/Cca,MODERATE,,0.576478,0.7589,rs227584,1(T),"0.0,0.0,0.0(B,B,B)",-1.67(N),-0.9872(T),,chr17,42225547,42225547,A,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr126Pro/c.376A>C|646|C17orf53|protein_coding|CODING|NM_001171251.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr126Pro/c.376A>C|647|C17orf53|protein_coding|CODING|NM_024032.3|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3","Bone_mineral_density,Bone_mineral_density_hip",,,0.3139,0.4582,0.2992,0.47,0.79,0.31,,0.531181(N),1.000(P),"0.97,0.97(T,T)",0.0000(T),0.059,-0.942870,4.61,1.5,-0.217000,0.023000,0.105000,0.059000,0.737000,0.082000,3.1789
missense_variant,ASB16,MISSENSE,NM_080863.4:p.Gln63His/c.189A>T,caA/caT,MODERATE,COSM436689(2),0.926518,0.9881,rs7218599,0.55(T),0.0(B),0.69(N),-0.9915(T),,chr17,42248346,42248346,A,T,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln63His/c.189A>T|453|ASB16|protein_coding|CODING|NM_080863.4|1|1),"HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:DNase1,IMR90:H3K4me1,HepG2:H3K4me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.8487,0.928,0.8539,0.90,0.97,0.86,,0.000022(N),1.000(P),0.63(T),0.0000(T),0.066,2.353447,5.26,3.06,-0.364000,0.128000,-0.067000,0.833000,0.987000,0.886000,4.0728
splice_acceptor_variant,ASB16-AS1,,NR_049730.1:n.252G>C,,HIGH,,0.520168,0.752,rs7220138,,,,,,chr17,42254011,42254011,C,G,het,"splice_acceptor_variant(HIGH|||n.252G>C||ASB16-AS1||NON_CODING|NR_049730.1|3|1),intron_variant(MODIFIER|||c.570-95C>G|453|ASB16|protein_coding|CODING|NM_080863.4|2|1),intron_variant(MODIFIER|||n.252-1G>C||ASB16-AS1||NON_CODING|NR_049730.1|2|1),non_coding_exon_variant(MODIFIER|||n.1589G>C||ASB16-AS1||NON_CODING|NR_049729.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3129,0.4452,0.2972,0.42,0.62,0.31,,,,,,,,,,,,,,,,
missense_variant,ASB16,MISSENSE,NM_080863.4:p.Thr249Ala/c.745A>G,Acg/Gcg,MODERATE,COSM436690(2),0.517971,0.752,rs7212573,0(D),0.0(B),-0.265(N),-0.9505(T),,chr17,42254281,42254281,A,G,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr249Ala/c.745A>G|453|ASB16|protein_coding|CODING|NM_080863.4|3|1),intron_variant(MODIFIER|||n.252-271T>C||ASB16-AS1||NON_CODING|NR_049730.1|2|1),non_coding_exon_variant(MODIFIER|||n.1319T>C||ASB16-AS1||NON_CODING|NR_049729.1|4|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3129,0.4424,0.2932,0.39,0.59,0.29,,,1.000(P),,0.0000(T),0.094,0.353578,5.22,3.08,-0.227000,0.777000,1.059000,0.056000,0.723000,0.002000,9.5645
missense_variant,ASB16,MISSENSE,NM_080863.4:p.Ser331Ala/c.991T>G,Tcc/Gcc,MODERATE,COSM3755574(2),0.519169,0.752,rs7217858,0.31(T),0.0(B),-1.15(N),-0.9872(T),,chr17,42254527,42254527,T,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser331Ala/c.991T>G|453|ASB16|protein_coding|CODING|NM_080863.4|3|1),intron_variant(MODIFIER|||n.252-517A>C||ASB16-AS1||NON_CODING|NR_049730.1|2|1),non_coding_exon_variant(MODIFIER|||n.1073A>C||ASB16-AS1||NON_CODING|NR_049729.1|4|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3129,0.4452,0.2972,0.36,0.53,0.28,,0.484158(N),1.000(P),0.07(T),0.0000(T),0.039,-0.315378,4.95,-0.697,-1.002000,-0.152000,-0.108000,0.003000,0.045000,0.000000,0.5636
synonymous_variant,UBTF,SILENT,NM_014233.3:p.Lys533Lys/c.1599G>A,aaG/aaA,LOW,COSM3755576(1),0.451478,0.6915,rs2071167,,,,,,chr17,42287519,42287519,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys496Lys/c.1488G>A|727|UBTF|protein_coding|CODING|NM_001076683.1|14|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys496Lys/c.1488G>A|727|UBTF|protein_coding|CODING|NM_001076684.2|14|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys533Lys/c.1599G>A|764|UBTF|protein_coding|CODING|NM_014233.3|15|1),non_coding_exon_variant(MODIFIER|||n.2092G>A||UBTF||CODING|NR_045058.1|15|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:PolII,CD4:DNase1,GM12878:H3K27ac,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2597,0.3646,0.2416,0.35,0.53,0.25,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A1,SILENT,NM_000342.3:p.Lys590Lys/c.1770G>A,aaG/aaA,LOW,,0.00698882,0,rs35807245,,,,,,chr17,42333071,42333071,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys590Lys/c.1770G>A|911|SLC4A1|protein_coding|CODING|NM_000342.3|14|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0274,0.0149,0.02,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A1,SILENT,NM_000342.3:p.Leu441Leu/c.1323G>A,ctG/ctA,LOW,,0.0229633,0.001,rs386597288,,,,,,chr17,42335135,42335135,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu441Leu/c.1323G>A|911|SLC4A1|protein_coding|CODING|NM_000342.3|12|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0164,0.0375,0.0676,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,RUNDC3A,SILENT,NM_001144825.1:p.Asp243Asp/c.729T>C,gaT/gaC,LOW,,0.63139,0.9097,rs708386,,,,,,chr17,42392622,42392622,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp243Asp/c.729T>C|446|RUNDC3A|protein_coding|CODING|NM_001144825.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp238Asp/c.714T>C|400|RUNDC3A|protein_coding|CODING|NM_001144826.1|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp243Asp/c.729T>C|405|RUNDC3A|protein_coding|CODING|NM_006695.4|7|1)","GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.5358,0.5634,0.3877,0.43,0.61,0.35,,,,,,,,,,,,,,,,
missense_variant,SLC25A39,MISSENSE,NM_001143780.1:p.Phe247Leu/c.739T>C,Ttc/Ctc,MODERATE,COSM3755577(1),0.68111,0.9266,rs2011951,0.74(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9708(T),,chr17,42398052,42398052,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe247Leu/c.739T>C|359|SLC25A39|protein_coding|CODING|NM_001143780.1|9|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe239Leu/c.715T>C|351|SLC25A39|protein_coding|CODING|NM_016016.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.5764,0.4036,0.50,0.73,0.39,,0.020130(N),1.000(P),"-1.25,-1.1,-1.22(T,T,T)",0.0000(T),0.029,-0.415327,5.18,0.7,-0.119000,0.094000,0.161000,0.207000,0.000000,0.000000,5.6686
synonymous_variant,GPATCH8,SILENT,NM_001002909.2:p.Thr1154Thr/c.3462C>G,acC/acG,LOW,COSM1178442(1),0.491613,0.497,rs936019,,,,,,chr17,42475983,42475983,G,C,hom,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr1154Thr/c.3462C>G|1502|GPATCH8|protein_coding|CODING|NM_001002909.2|8|1),non_coding_exon_variant(MODIFIER|||n.3699C>G||GPATCH8||CODING|NR_036474.1|9|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4233,0.5937,0.6014,0.55,0.41,0.62,,,,,,,,,,,,,,,,
missense_variant,DBF4B,MISSENSE,NM_145663.2:p.Ser20Asn/c.59G>A,aGt/aAt,MODERATE,,0.00559105,0,rs34159181,0.06(T),"0.006,0.006,0.007,0.006(B,B,B,B)",0.895(L),-1.0396(T),,chr17,42786711,42786711,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser20Asn/c.59G>A|431|DBF4B|protein_coding|CODING|NM_025104.3|2|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser20Asn/c.59G>A|615|DBF4B|protein_coding|CODING|NM_145663.2|2|1),non_coding_exon_variant(MODIFIER|||n.272G>A||DBF4B||CODING|NR_036623.1|2|1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0051,0.0058,0.0179,0.01,0.00,0.02,,,1.000(N),"0.59,0.62,0.48(T,T,T)",0.0473(T),0.009,1.783634,2.69,-0.947,0.462000,-0.132000,0.341000,0.166000,0.001000,0.015000,4.6902
synonymous_variant,ADAM11,SILENT,NM_002390.4:p.His353His/c.1059C>T,caC/caT,LOW,,0.645567,0.7708,rs35936481,,,,,,chr17,42851729,42851729,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His353His/c.1059C>T|769|ADAM11|protein_coding|CODING|NM_002390.4|12|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7188,0.6931,0.6769,0.59,0.51,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ADAM11,SILENT,NM_002390.4:p.Ser415Ser/c.1245G>T,tcG/tcT,LOW,COSM4130148(1),0.645567,0.7688,rs1558083,,,,,,chr17,42852604,42852604,G,T,hom,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser415Ser/c.1245G>T|769|ADAM11|protein_coding|CODING|NM_002390.4|15|1),"NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,K562:CTCF,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,GM12878:ZEB1,HUVEC:H3K4me2,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.7188,0.6945,0.6779,0.58,0.50,0.62,,,,,,,,,,,,,,,,
synonymous_variant,ADAM11,SILENT,NM_002390.4:p.Cys417Cys/c.1251T>C,tgT/tgC,LOW,COSM4130150(1),0.904952,0.874,rs1558084,,,,,,chr17,42852610,42852610,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys417Cys/c.1251T>C|769|ADAM11|protein_coding|CODING|NM_002390.4|15|1),"NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,HUVEC:H3K4me2,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.8988,0.9496,0.9165,0.89,0.90,0.89,,,,,,,,,,,,,,,,
synonymous_variant,ADAM11,SILENT,NM_002390.4:p.Ser586Ser/c.1758T>C,tcT/tcC,LOW,COSM1750080(1),0.645367,0.7698,rs8075210,,,,,,chr17,42854610,42854610,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser586Ser/c.1758T>C|769|ADAM11|protein_coding|CODING|NM_002390.4|21|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7188,0.6931,0.6769,0.58,0.50,0.62,,,,,,,,,,,,,,,,
synonymous_variant,ADAM11,SILENT,NM_002390.4:p.Ile740Ile/c.2220T>C,atT/atC,LOW,,0.645367,0.7698,rs2070605,,,,,,chr17,42855554,42855554,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile740Ile/c.2220T>C|769|ADAM11|protein_coding|CODING|NM_002390.4|25|1),"GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7188,0.6931,0.6769,0.58,0.50,0.62,,,,,,,,,,,,,,,,
synonymous_variant,HIGD1B,SILENT,NM_016438.3:p.Asp13Asp/c.39C>T,gaC/gaT,LOW,,0.652556,0.5446,rs12164,,,,,,chr17,42925559,42925559,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp13Asp/c.39C>T|99|HIGD1B|protein_coding|CODING|NM_016438.3|1|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp13Asp/c.39C>T|99|HIGD1B|protein_coding|CODING|NM_001271880.1|2|1),non_coding_exon_variant(MODIFIER|||n.290C>T||HIGD1B||CODING|NR_073504.1|1|1)","IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6748,0.5476,0.5895,0.68,0.79,0.62,,,,,,,,,,,,,,,,
missense_variant,HIGD1B,MISSENSE,NM_001271880.1:p.Ser86Asn/c.257G>A,aGc/aAc,MODERATE,COSM3755581(1),0.22524,0.0843,rs1071682,0.21(T),0.0(B),,-0.9450(T),,chr17,42927721,42927721,G,A,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser86Asn/c.257G>A|99|HIGD1B|protein_coding|CODING|NM_001271880.1|4|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser86Asn/c.257G>A|99|HIGD1B|protein_coding|CODING|NM_016438.3|3|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|937|EFTUD2|protein_coding|CODING|NM_001142605.1|27|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|972|EFTUD2|protein_coding|CODING|NM_001258353.1|28|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|962|EFTUD2|protein_coding|CODING|NM_001258354.1|28|1),3_prime_UTR_variant(MODIFIER||921|c.*921C>T|972|EFTUD2|protein_coding|CODING|NM_004247.3|28|1),non_coding_exon_variant(MODIFIER|||n.373G>A||HIGD1B||CODING|NR_073504.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:EBF,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2822,0.2334,0.3439,0.31,0.22,0.36,,0.010170(N),0.000(P),1.55(T),0.0000(T),0.016,0.760046,5.24,4.23,-0.466000,1.112000,1.774000,0.158000,1.000000,1.000000,7.5238
missense_variant,HIGD1B,MISSENSE,NM_001271880.1:p.Asp87Asn/c.259G>A,Gat/Aat,MODERATE,,0.00758786,0,rs2231650,0.01(D),0.006(B),,-1.0966(T),,chr17,42927723,42927723,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp87Asn/c.259G>A|99|HIGD1B|protein_coding|CODING|NM_001271880.1|4|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp87Asn/c.259G>A|99|HIGD1B|protein_coding|CODING|NM_016438.3|3|1),3_prime_UTR_variant(MODIFIER||919|c.*919C>T|937|EFTUD2|protein_coding|CODING|NM_001142605.1|27|1),3_prime_UTR_variant(MODIFIER||919|c.*919C>T|972|EFTUD2|protein_coding|CODING|NM_001258353.1|28|1),3_prime_UTR_variant(MODIFIER||919|c.*919C>T|962|EFTUD2|protein_coding|CODING|NM_001258354.1|28|1),3_prime_UTR_variant(MODIFIER||919|c.*919C>T|972|EFTUD2|protein_coding|CODING|NM_004247.3|28|1),non_coding_exon_variant(MODIFIER|||n.375G>A||HIGD1B||CODING|NR_073504.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:EBF,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0086,0.0258,0.02,0.00,0.02,,0.000011(D),1.000(D),1.33(T),0.0297(T),0.029,1.878713,5.24,4.28,0.609000,1.208000,3.676000,0.108000,1.000000,1.000000,11.4354
synonymous_variant,PLCD3,SILENT,NM_133373.4:p.Leu484Leu/c.1450T>C,Ttg/Ctg,LOW,COSM436724(2),0.543331,0.6746,rs713101,,,,,,chr17,43192821,43192821,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu484Leu/c.1450T>C|788|PLCD3|protein_coding|CODING|NM_133373.4|9|1|WARNING_TRANSCRIPT_INCOMPLETE),upstream_gene_variant(MODIFIER||1020|||MIR6784||NON_CODING|NR_106842.1||1)","HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4826,0.536,0.5885,0.54,0.49,0.57,,,,,,,,,,,,,,,,
synonymous_variant,HEXIM1,SILENT,NM_006460.2:p.Glu110Glu/c.330A>G,gaA/gaG,LOW,COSM3755587(3),0.198882,0.2183,rs12051846,,,,,,chr17,43226887,43226887,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu110Glu/c.330A>G|359|HEXIM1|protein_coding|CODING|NM_006460.2|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HMEC:CTCF,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM06990:CTCF",,,,0.3098,0.1945,0.2734,0.17,0.07,0.22,,,,,,,,,,,,,,,,
synonymous_variant,HEXIM1,SILENT,NM_006460.2:p.Asp219Asp/c.657T>C,gaT/gaC,LOW,COSM3932621(2),0.198682,0.2183,rs1044977,,,,,,chr17,43227214,43227214,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp219Asp/c.657T>C|359|HEXIM1|protein_coding|CODING|NM_006460.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:SP1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.3078,0.196,0.2734,0.19,0.08,0.24,,,,,,,,,,,,,,,,
synonymous_variant,HEXIM1,SILENT,NM_006460.2:p.Leu315Leu/c.943C>T,Ctg/Ttg,LOW,,,,,,,,,,chr17,43227500,43227500,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu315Leu/c.943C>T|359|HEXIM1|protein_coding|CODING|NM_006460.2|1|1),"NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FMNL1,SILENT,NM_005892.3:p.Ser336Ser/c.1008G>A,tcG/tcA,LOW,,0.112819,0.1339,rs12940312,,,,,,chr17,43316360,43316360,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser336Ser/c.1008G>A|1100|FMNL1|protein_coding|CODING|NM_005892.3|11|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2577,0.0879,0.1083,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,FMNL1,SILENT,NM_005892.3:p.Gly454Gly/c.1362G>C,ggG/ggC,LOW,,0.987819,0.994,rs7218169,,,,,,chr17,43318778,43318778,G,C,hom,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly454Gly/c.1362G>C|1100|FMNL1|protein_coding|CODING|NM_005892.3|14|1),"H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,CD4:PolII,NHEK:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9898,0.9885,0.9771,0.99,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,FMNL1,MISSENSE,NM_005892.3:p.Pro455Ala/c.1363C>G,Ccc/Gcc,MODERATE,,0.988818,0.994,rs7219366,0.77(T),0.0(B),-0.345(N),-1.0086(T),,chr17,43318779,43318779,C,G,hom,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro455Ala/c.1363C>G|1100|FMNL1|protein_coding|CODING|NM_005892.3|14|1),"H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,CD4:PolII,NHEK:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9918,0.9885,0.9771,1.00,0.99,1.00,,0.714614(N),1.000(P),"-1.15,-1.15(T,T)",0.0000(T),0.058,-0.485600,4.14,-2.26,-2.166000,-0.662000,-1.046000,0.139000,0.001000,0.000000,4.9719
stop_gained,MAP3K14,NONSENSE,NM_003954.4:p.Ser902*/c.2705C>G,tCa/tGa,HIGH,,0.718251,0.7073,rs1047833,,,,,,chr17,43342141,43342141,G,C,het,"stop_gained(HIGH|NONSENSE|tCa/tGa|p.Ser902*/c.2705C>G|946|MAP3K14|protein_coding|CODING|NM_003954.4|16|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.80-2339G>C||MAP3K14-AS1||NON_CODING|NR_024434.2|1|1),intron_variant(MODIFIER|||n.260-2339G>C||MAP3K14-AS1||NON_CODING|NR_110325.1|3|1),intron_variant(MODIFIER|||n.164-2339G>C||MAP3K14-AS1||NON_CODING|NR_110326.1|2|1),intron_variant(MODIFIER|||n.265-1476G>C||MAP3K14-AS1||NON_CODING|NR_024435.2|1|1),intron_variant(MODIFIER|||n.265-2339G>C||MAP3K14-AS1||NON_CODING|NR_110324.1|1|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6237,0.7651,0.7087,0.75,0.79,0.72,,,,,,,,,,,,,,,,
synonymous_variant,NSF,SILENT,NM_006178.3.2:p.Lys702Lys/c.2106G>A,aaG/aaA,LOW,,0.0790735,0.001,rs199533,,,,,,chr17,44828931,44828931,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys702Lys/c.2106G>A|744|NSF|protein_coding|CODING|NM_006178.3.2|19|1),non_coding_exon_variant(MODIFIER|||n.2173G>A||NSF||CODING|NR_040116.1|18|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1","Parkinson_s_disease,Parkinson_s_disease",,,0.0532,0.1513,0.2227,0.16,0.04,0.21,,,,,,,,,,,,,,,,
missense_variant,WNT9B,MISSENSE,NM_003396.1:p.Met106Thr/c.317T>C,aTg/aCg,MODERATE,COSM4130180(1),0.707069,0.4643,rs4968281,,"0.0,0.0(B,B)",-0.57(N),-0.9945(T),,chr17,44950122,44950122,T,C,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met106Thr/c.317T>C|357|WNT9B|protein_coding|CODING|NM_003396.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6544,0.6354,0.7465,0.79,0.91,0.73,,0.941186(N),1.000(P),"-0.87,-0.87(T,T)",0.0000(T),0.343,-1.754299,4.49,-0.0339,-1.694000,-0.234000,0.967000,0.346000,0.235000,0.449000,2.2191
synonymous_variant,WNT9B,SILENT,NM_003396.1:p.Arg133Arg/c.399G>T,cgG/cgT,LOW,COSM1383864(2),0.0329473,0.0417,rs34072914,,,,,,chr17,44952531,44952531,G,T,het,synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg133Arg/c.399G>T|357|WNT9B|protein_coding|CODING|NM_003396.1|3|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.0245,0.0179,0.03,0.04,0.03,,,,,,,,,,,,,,,,
missense_variant,GOSR2,MISSENSE,NM_054022.2:p.Arg67Lys/c.200G>A,aGa/aAa,MODERATE,COSM3755609(4),0.346046,0.3621,rs197922,1(T),"0.001,0.0,0.001,0.002(B,B,B,B)",-1.04(N),-0.9628(T),,chr17,45008570,45008570,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg67Lys/c.200G>A|195|GOSR2|protein_coding|CODING|NM_001012511.1|3|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg67Lys/c.200G>A|212|GOSR2|protein_coding|CODING|NM_004287.3|3|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg67Lys/c.200G>A|213|GOSR2|protein_coding|CODING|NM_054022.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117154.2,,0.4591,0.2507,0.3648,0.32,0.31,0.33,,0.000000(N),0.998(P),"0.73,0.73,0.73,1.77(T,T,T,T)",0.0000(T),0.149,0.799785,5.87,4.78,-0.254000,0.548000,3.772000,0.867000,1.000000,1.000000,9.229
missense_variant,CDC27,MISSENSE,NM_001114091.2:p.Trp644Arg/c.1930T>C,Tgg/Cgg,MODERATE,COSM249060(6),,,rs74348171,0(D),"1.0,0.999,0.999,0.999(D,D,D,D)",3.36(M),0.1386(D),,chr17,45214519,45214519,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp644Arg/c.1930T>C|830|CDC27|protein_coding|CODING|NM_001114091.2|14|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp638Arg/c.1912T>C|824|CDC27|protein_coding|CODING|NM_001256.4|14|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp637Arg/c.1909T>C|823|CDC27|protein_coding|CODING|NM_001293089.1|14|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp577Arg/c.1729T>C|763|CDC27|protein_coding|CODING|NM_001293091.1|13|1),splice_region_variant(LOW|||c.1930T>C|830|CDC27|protein_coding|CODING|NM_001114091.2|14|1),splice_region_variant(LOW|||c.1912T>C|824|CDC27|protein_coding|CODING|NM_001256.4|14|1),splice_region_variant(LOW|||c.1909T>C|823|CDC27|protein_coding|CODING|NM_001293089.1|14|1),splice_region_variant(LOW|||c.1729T>C|763|CDC27|protein_coding|CODING|NM_001293091.1|13|1)","H1ESC:H3K36me3,CD4:H3R2me2,CD4:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,0.000000(D),1.000(D),"0.24,0.24,0.24,0.24(T,T,T,T)",0.4812(T),0.983,5.024717,5.98,5.98,0.477000,2.293000,9.339000,0.975000,1.000000,1.000000,14.4087
missense_variant,CDC27,MISSENSE,NM_001114091.2:p.Tyr641Cys/c.1922A>G,tAt/tGt,MODERATE,COSM4130185(1),,,rs62075618,0(D),"0.79,0.753,0.753,0.727(P,P,P,P)",3.91(H),0.3289(D),,chr17,45214527,45214527,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr641Cys/c.1922A>G|830|CDC27|protein_coding|CODING|NM_001114091.2|14|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr635Cys/c.1904A>G|824|CDC27|protein_coding|CODING|NM_001256.4|14|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr634Cys/c.1901A>G|823|CDC27|protein_coding|CODING|NM_001293089.1|14|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr574Cys/c.1721A>G|763|CDC27|protein_coding|CODING|NM_001293091.1|13|1)","H1ESC:H3K36me3,CD4:H3R2me2,CD4:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,0.000000(D),0.000(P),"0.26,0.26,0.26,0.26(T,T,T,T)",0.4692(T),0.933,5.004463,5.98,5.98,0.477000,2.293000,6.308000,0.988000,1.000000,1.000000,14.4087
missense_variant,CDC27,MISSENSE,NM_001114091.2:p.His615Gln/c.1845T>A,caT/caA,MODERATE,,,,rs75661039,0(D),"0.983,0.971,0.979,0.976(D,D,D,D)",3.08(M),-0.3777(T),,chr17,45214604,45214604,A,T,het,"missense_variant(MODERATE|MISSENSE|caT/caA|p.His615Gln/c.1845T>A|830|CDC27|protein_coding|CODING|NM_001114091.2|14|1),missense_variant(MODERATE|MISSENSE|caT/caA|p.His609Gln/c.1827T>A|824|CDC27|protein_coding|CODING|NM_001256.4|14|1),missense_variant(MODERATE|MISSENSE|caT/caA|p.His608Gln/c.1824T>A|823|CDC27|protein_coding|CODING|NM_001293089.1|14|1),missense_variant(MODERATE|MISSENSE|caT/caA|p.His548Gln/c.1644T>A|763|CDC27|protein_coding|CODING|NM_001293091.1|13|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H3K36me1,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,0.000000(D),1.000(D),"0.34,0.34,0.34,0.34(T,T,T,T)",0.3452(T),0.879,4.387750,5.81,-1.66,0.477000,-0.648000,0.088000,0.997000,0.974000,0.800000,11.9196
missense_variant,CDC27,MISSENSE,NM_001114091.2:p.His615Arg/c.1844A>G,cAt/cGt,MODERATE,,,,rs76926116,0(D),"0.513,0.379,0.455,0.428(P,B,P,B)",3.425(M),-0.1135(T),,chr17,45214605,45214605,T,C,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His615Arg/c.1844A>G|830|CDC27|protein_coding|CODING|NM_001114091.2|14|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His609Arg/c.1826A>G|824|CDC27|protein_coding|CODING|NM_001256.4|14|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His608Arg/c.1823A>G|823|CDC27|protein_coding|CODING|NM_001293089.1|14|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His548Arg/c.1643A>G|763|CDC27|protein_coding|CODING|NM_001293091.1|13|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H3K36me1,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,0.000000(D),1.000(D),"0.32,0.32,0.32,0.32(T,T,T,T)",0.3545(T),0.89,4.752269,5.81,5.81,0.477000,2.228000,6.308000,0.997000,0.997000,1.000000,14.1085
missense_variant,CDC27,MISSENSE,NM_001114091.2:p.Ile235Thr/c.704T>C,aTt/aCt,MODERATE,COSM4130263(1),,,rs193061947,0.56(T),"0.006,0.046,0.008,0.004(B,B,B,B)",0.695(N),-0.9163(T),,chr17,45234417,45234417,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile235Thr/c.704T>C|830|CDC27|protein_coding|CODING|NM_001114091.2|7|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile235Thr/c.704T>C|824|CDC27|protein_coding|CODING|NM_001256.4|7|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile235Thr/c.704T>C|823|CDC27|protein_coding|CODING|NM_001293089.1|7|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile174Thr/c.521T>C|763|CDC27|protein_coding|CODING|NM_001293091.1|6|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H3K36me1,CD4:H4R3me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K27me2,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HepG2:DNase1,GM12878:DNase1,GM12878:FAIRE,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,0.000000(D),1.000(D),"-0.3,-0.29,0.02,-0.3,0.81(T,T,T,T,T)",0.1622(T),0.93,3.168932,5.44,5.44,0.377000,2.066000,8.754000,0.996000,1.000000,1.000000,13.444
missense_variant,CDC27,MISSENSE,NM_001114091.2:p.Tyr234Ser/c.701A>C,tAt/tCt,MODERATE,COSM3734971(6),,,rs78493795,0.4(T),"0.003,0.006,0.004,0.002(B,B,B,B)",0.55(N),-0.8526(T),,chr17,45234420,45234420,T,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr234Ser/c.701A>C|830|CDC27|protein_coding|CODING|NM_001114091.2|7|1),missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr234Ser/c.701A>C|824|CDC27|protein_coding|CODING|NM_001256.4|7|1),missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr234Ser/c.701A>C|823|CDC27|protein_coding|CODING|NM_001293089.1|7|1),missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr173Ser/c.518A>C|763|CDC27|protein_coding|CODING|NM_001293091.1|6|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H3K36me1,CD4:H4R3me2,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K27me2,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HepG2:DNase1,GM12878:DNase1,GM12878:FAIRE,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,,,,,,,,0.000000(D),0.000(P),"-0.19,-0.19,0.08,-0.19,0.9(T,T,T,T,T)",0.1394(T),0.936,2.264783,5.44,5.44,0.377000,2.066000,7.522000,0.995000,0.999000,1.000000,13.444
synonymous_variant,ITGB3,SILENT,NM_000212.2:p.Val381Val/c.1143A>C,gtA/gtC,LOW,,0.43111,0.5476,rs15908,,,,,,chr17,45368337,45368337,A,C,hom,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val381Val/c.1143A>C|788|ITGB3|protein_coding|CODING|NM_000212.2|9|1),"HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.453,0.3602,0.3678,0.39,0.42,0.37,,,,,,,,,,,,,,,,
synonymous_variant,ITGB3,SILENT,NM_000212.2:p.Glu511Glu/c.1533A>G,gaA/gaG,LOW,COSM1383908(4),0.28734,0.3313,rs4642,,,,,,chr17,45369777,45369777,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu511Glu/c.1533A>G|788|ITGB3|protein_coding|CODING|NM_000212.2|10|1),"HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2945,0.268,0.2903,0.28,0.27,0.29,,,,,,,,,,,,,,,,
synonymous_variant,ITGB3,SILENT,NM_000212.2:p.Arg515Arg/c.1545G>A,cgG/cgA,LOW,COSM4000180(2),0.28734,0.3313,rs4634,,,,,,chr17,45369789,45369789,G,A,hom,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg515Arg/c.1545G>A|788|ITGB3|protein_coding|CODING|NM_000212.2|10|1),"HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2945,0.268,0.2903,0.28,0.27,0.29,,,,,,,,,,,,,,,,
missense_variant,EFCAB13,MISSENSE,NM_152347.4:p.Ile279Val/c.835A>G,Ata/Gta,MODERATE,,0.0623003,0.1091,rs55853213,0(D),"0.022,0.032,0.019(B,B,B)",0.63(N),-1.1328(T),,chr17,45447832,45447832,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile183Val/c.547A>G|784|EFCAB13|protein_coding|CODING|NM_001195192.1|9|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile279Val/c.835A>G|973|EFCAB13|protein_coding|CODING|NM_152347.4|11|1)","NHEK:H3K27me3,HepG2:H3K36me3",,,,0.0603,0.0821,0.0517,0.05,0.03,0.06,,0.037371(N),1.000(P),"0.81,-0.22(T,T)",0.0032(T),0.048,1.356387,3.86,-4.0,-1.573000,-1.067000,-1.738000,0.326000,0.132000,0.018000,5.0206
missense_variant,EFCAB13,MISSENSE,NM_152347.4:p.Val312Ile/c.934G>A,Gta/Ata,MODERATE,COSM3721034(1),0.621805,0.5903,rs4968318,1(T),"0.001,0.0,0.0(B,B,B)",0.55(N),-0.9884(T),,chr17,45451894,45451894,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val216Ile/c.646G>A|784|EFCAB13|protein_coding|CODING|NM_001195192.1|10|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val312Ile/c.934G>A|973|EFCAB13|protein_coding|CODING|NM_152347.4|12|1)",,,,,0.5613,0.5317,0.6034,0.65,0.72,0.61,,0.009260(N),1.000(P),"0.26,-0.1(T,T)",0.0000(T),0.037,-1.272243,4.02,-8.04,-2.097000,-3.238000,-3.603000,0.069000,0.000000,0.000000,1.6133
missense_variant,EFCAB13,MISSENSE,NM_152347.4:p.Asp541Val/c.1622A>T,gAt/gTt,MODERATE,COSM148288(1),0.0892572,0.1657,rs72825679,0(D),"0.994,0.995,0.984(D,D,D)",1.935(M),-0.9779(T),,chr17,45468842,45468842,A,T,het,"missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp445Val/c.1334A>T|784|EFCAB13|protein_coding|CODING|NM_001195192.1|13|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp541Val/c.1622A>T|973|EFCAB13|protein_coding|CODING|NM_152347.4|15|1)",,,,,0.1043,0.0893,0.0537,0.06,0.05,0.06,,0.348875(N),0.001(P),"0.01,-0.42,0.51(T,T,T)",0.0019(T),0.536,2.215371,3.2,3.2,0.383000,1.671000,2.948000,0.473000,0.826000,1.000000,8.1506
synonymous_variant,EFCAB13,SILENT,NM_152347.4:p.Phe797Phe/c.2391C>T,ttC/ttT,LOW,COSM148290(1),0.148363,0.3353,rs386588483,,,,,,chr17,45490251,45490251,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe701Phe/c.2103C>T|784|EFCAB13|protein_coding|CODING|NM_001195192.1|20|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe797Phe/c.2391C>T|973|EFCAB13|protein_coding|CODING|NM_152347.4|22|1)",,,,,0.1697,0.1037,0.0815,0.07,0.07,0.08,,,,,,,,,,,,,,,,
missense_variant,TBX21,MISSENSE,NM_013351.1:p.His33Gln/c.99C>G,caC/caG,MODERATE,,0.0499201,0.1062,rs2240017,0.48(T),0.004(B),0.345(N),-1.0218(T),,chr17,45810919,45810919,C,G,het,missense_variant(MODERATE|MISSENSE|caC/caG|p.His33Gln/c.99C>G|535|TBX21|protein_coding|CODING|NM_013351.1|1|1),"HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.0542,0.0865,0.0199,0.01,0.01,0.02,,0.809058(N),0.916(P),-1.91(D),0.0148(T),0.067,0.478682,3.64,0.45,-0.339000,-0.053000,0.245000,0.049000,0.964000,0.000000,5.3817
synonymous_variant,OSBPL7,SILENT,NM_145798.2:p.Tyr833Tyr/c.2499T>C,taT/taC,LOW,COSM1750105(3),0.836661,0.8165,rs9907142,,,,,,chr17,45885687,45885687,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr833Tyr/c.2499T>C|842|OSBPL7|protein_coding|CODING|NM_145798.2|23|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8108,0.8718,0.9473,0.91,0.83,0.95,,,,,,,,,,,,,,,,
synonymous_variant,OSBPL7,SILENT,NM_145798.2:p.Thr810Thr/c.2430G>A,acG/acA,LOW,COSM3755618(1),0.474042,0.1528,rs9911983,,,,,,chr17,45885756,45885756,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr810Thr/c.2430G>A|842|OSBPL7|protein_coding|CODING|NM_145798.2|23|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4693,0.4352,0.5298,0.61,0.70,0.56,,,,,,,,,,,,,,,,
synonymous_variant,OSBPL7,SILENT,NM_145798.2:p.Lys554Lys/c.1662G>A,aaG/aaA,LOW,COSM4130333(1),0.158746,0.0139,rs2301690,,,,,,chr17,45890707,45890707,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys554Lys/c.1662G>A|842|OSBPL7|protein_coding|CODING|NM_145798.2|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1861,0.2233,0.3569,0.29,0.11,0.38,,,,,,,,,,,,,,,,
missense_variant,MRPL10,MISSENSE,NM_148887.2:p.Val135Ile/c.403G>A,Gtc/Atc,MODERATE,COSM3755619(1),0.158746,0.0139,rs11538868,0.14(T),"0.015,0.022(B,B)",0.665(N),-0.9689(T),,chr17,45904420,45904420,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val125Ile/c.373G>A|261|MRPL10|protein_coding|CODING|NM_145255.3|3|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val135Ile/c.403G>A|271|MRPL10|protein_coding|CODING|NM_148887.2|4|1),non_coding_exon_variant(MODIFIER|||n.552G>A||MRPL10||CODING|NR_037575.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1861,0.2161,0.3549,0.29,0.11,0.38,,0.043052(N),1.000(P),"0.6,0.6,0.6(T,T,T)",0.0000(T),0.032,1.425026,5.62,-0.131,-0.367000,-0.216000,0.048000,0.804000,0.971000,0.779000,1.9376
missense_variant,SCRN2,MISSENSE,NM_138355.3:p.Met323Val/c.967A>G,Atg/Gtg,MODERATE,,0.983027,0.998,rs7350974,0.37(T),"0.0,0.0(B,B)",-1.7(N),-0.9959(T),,chr17,45915788,45915788,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met323Val/c.967A>G|378|SCRN2|protein_coding|CODING|NM_001145023.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met323Val/c.967A>G|425|SCRN2|protein_coding|CODING|NM_138355.3|7|1),downstream_gene_variant(MODIFIER||709||321|LRRC46|protein_coding|CODING|NM_033413.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9939,0.915,0.9831,0.99,1.00,0.98,,0.847504(N),1.000(P),"3.35,3.2(T,T)",0.0000(T),0.138,-0.704681,5.66,2.45,-0.119000,0.040000,-0.387000,0.295000,0.004000,0.000000,8.6081
missense_variant,SCRN2,MISSENSE,NM_138355.3:p.Leu139Arg/c.416T>G,cTg/cGg,MODERATE,,,,,0(D),"1.0,1.0,1.0(D,D,D)",3.4(M),-0.3201(T),,chr17,45916950,45916950,A,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu139Arg/c.416T>G|378|SCRN2|protein_coding|CODING|NM_001145023.1|4|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu139Arg/c.416T>G|425|SCRN2|protein_coding|CODING|NM_138355.3|4|1),downstream_gene_variant(MODIFIER||1871||321|LRRC46|protein_coding|CODING|NM_033413.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"1.54,1.54(T,T)",0.2702(T),0.995,4.442200,5.34,5.34,0.459000,2.025000,9.333000,0.872000,1.000000,1.000000,14.2948
synonymous_variant,SP2,SILENT,NM_003110.5:p.Leu203Leu/c.607C>T,Ctg/Ttg,LOW,COSM3937437(2),0.567891,0.7748,rs2228253,,,,,,chr17,45994044,45994044,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu203Leu/c.607C>T|613|SP2|protein_coding|CODING|NM_003110.5|3|1),intron_variant(MODIFIER|||n.178+1774G>A||LOC100506325||NON_CODING|NR_103857.1|2|1),intron_variant(MODIFIER|||n.189+1774G>A||LOC100506325||NON_CODING|NR_103856.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4611,0.4813,0.4622,0.49,0.59,0.44,,,,,,,,,,,,,,,,
synonymous_variant,SP2,SILENT,NM_003110.5:p.Leu219Leu/c.657T>C,ctT/ctC,LOW,COSM3937438(2),0.568091,0.7758,rs2228251,,,,,,chr17,45994094,45994094,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu219Leu/c.657T>C|613|SP2|protein_coding|CODING|NM_003110.5|3|1),intron_variant(MODIFIER|||n.178+1724A>G||LOC100506325||NON_CODING|NR_103857.1|2|1),intron_variant(MODIFIER|||n.189+1724A>G||LOC100506325||NON_CODING|NR_103856.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4611,0.4813,0.4622,0.49,0.59,0.44,,,,,,,,,,,,,,,,
synonymous_variant,SP2,SILENT,NM_003110.5:p.Pro239Pro/c.717G>A,ccG/ccA,LOW,COSM3937439(3),0.49381,0.7748,rs2229358,,,,,,chr17,45994154,45994154,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro239Pro/c.717G>A|613|SP2|protein_coding|CODING|NM_003110.5|3|1),intron_variant(MODIFIER|||n.178+1664C>T||LOC100506325||NON_CODING|NR_103857.1|2|1),intron_variant(MODIFIER|||n.189+1664C>T||LOC100506325||NON_CODING|NR_103856.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4611,0.4625,0.4602,0.41,0.37,0.43,,,,,,,,,,,,,,,,
synonymous_variant,SP2,SILENT,NM_003110.5:p.Val526Val/c.1578G>T,gtG/gtT,LOW,COSM292333(1),0.502796,0.7708,rs1130932,,,,,,chr17,46002744,46002744,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val526Val/c.1578G>T|613|SP2|protein_coding|CODING|NM_003110.5|6|1),intron_variant(MODIFIER|||n.70-6807C>A||LOC100506325||NON_CODING|NR_103856.1|1|1),intron_variant(MODIFIER|||n.59-6807C>A||LOC100506325||NON_CODING|NR_103857.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4611,0.4697,0.4583,0.42,0.40,0.43,,,,,,,,,,,,,,,,
synonymous_variant,PNPO,SILENT,NM_018129.3:p.Ser55Ser/c.165C>T,tcC/tcT,LOW,COSM1179771(3),0.16254,0.1617,rs11079804,,,,,,chr17,46020698,46020698,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser55Ser/c.165C>T|261|PNPO|protein_coding|CODING|NM_018129.3|2|1),upstream_gene_variant(MODIFIER||1928|||LOC100506325||NON_CODING|NR_103856.1||1),upstream_gene_variant(MODIFIER||1928|||LOC100506325||NON_CODING|NR_103857.1||1)","HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118001.2,,0.272,0.2176,0.162,0.14,0.07,0.17,,,,,,,,,,,,,,,,
synonymous_variant,NFE2L1,SILENT,NM_003204.2:p.Ser483Ser/c.1449G>C,tcG/tcC,LOW,,0.0932508,0.1954,rs2229369,,,,,,chr17,46136133,46136133,G,C,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser483Ser/c.1449G>C|772|NFE2L1|protein_coding|CODING|NM_003204.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1074,0.049,0.1213,0.08,0.03,0.10,,,,,,,,,,,,,,,,
missense_variant,SKAP1,MISSENSE,NM_003726.3:p.Gly161Ser/c.481G>A,Ggt/Agt,MODERATE,COSM1179686(2),0.607029,0.7827,rs2278868,1(T),"0.002,0.0(B,B)",-1.8(N),-0.9289(T),,chr17,46262171,46262171,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly161Ser/c.481G>A|358|SKAP1|protein_coding|CODING|NM_001075099.1|7|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly161Ser/c.481G>A|359|SKAP1|protein_coding|CODING|NM_003726.3|7|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HSMM:DNase1,HMEC:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7536,0.6484,0.5885,0.53,0.40,0.60,,0.035534(N),1.000(P),-0.8(T),0.0000(T),0.066,0.046397,5.37,5.37,-0.381000,0.875000,1.837000,0.924000,1.000000,0.983000,6.8689
missense_variant,HOXB1,MISSENSE,NM_002144.3:p.Glu265Gly/c.794A>G,gAa/gGa,MODERATE,COSM4130340(1),0.986621,1,rs7226137,1(T),0.0(B),-0.975(N),-0.9351(T),,chr17,46607021,46607021,T,C,hom,missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu265Gly/c.794A>G|301|HOXB1|protein_coding|CODING|NM_002144.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,1,0.9971,1,0.98,0.95,1.00,,0.000231(N),0.000(P),-2.53(D),0.0000(T),0.058,0.425736,5.19,5.19,-0.119000,1.446000,2.109000,0.877000,1.000000,0.979000,6.3062
synonymous_variant,HOXB1,SILENT,NM_002144.3:p.Ala150Ala/c.450G>A,gcG/gcA,LOW,COSM4130341(1),0.131789,0.0972,rs7207109,,,,,,chr17,46607817,46607817,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala150Ala/c.450G>A|301|HOXB1|protein_coding|CODING|NM_002144.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1309,0.1225,0.2048,0.18,0.12,0.21,,,,,,,,,,,,,,,,
missense_variant,HOXB1,MISSENSE,NM_002144.3:p.Gln103His/c.309A>T,caA/caT,MODERATE,,0.114417,0.0982,rs12939811,0.03(D),0.19(B),1.625(L),-0.9028(T),,chr17,46607958,46607958,T,A,het,missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln103His/c.309A>T|301|HOXB1|protein_coding|CODING|NM_002144.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.1023,0.1928,0.15,0.08,0.19,,0.000838(D),1.000(P),-2.58(D),0.0010(T),0.091,0.847945,4.37,-5.68,-0.925000,-1.633000,-1.050000,0.737000,0.000000,0.003000,11.7967
synonymous_variant,HOXB1,SILENT,NM_002144.3:p.Ser79Ser/c.237C>T,tcC/tcT,LOW,COSM3755622(2),0.134185,0.0972,rs12946855,,,,,,chr17,46608030,46608030,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser79Ser/c.237C>T|301|HOXB1|protein_coding|CODING|NM_002144.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1309,0.1225,0.2048,0.18,0.13,0.21,,,,,,,,,,,,,,,,
missense_variant,HOXB3,MISSENSE,NM_002146.4:p.Pro82Thr/c.244C>A,Ccc/Acc,MODERATE,COSM3755624(5),0.603435,0.7976,rs2229304,0.63(T),0.021(B),0.55(N),-0.9642(T),,chr17,46629593,46629593,G,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro82Thr/c.244C>A|431|HOXB3|protein_coding|CODING|NM_002146.4|3|1),downstream_gene_variant(MODIFIER||990|||HOXB-AS1||NON_CODING|NR_102279.1||1)","H1ESC:H3K36me3,IMR90:H3K9ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,NH-A:H3K27me3,IMR90:H3K4ac,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,0.591,0.6599,0.7068,0.61,0.43,0.70,,0.327285(U),0.000(P),"-2.78,-2.78,-2.78,-2.78,-2.78,-2.78,1.53(D,D,D,D,D,D,T)",0.0000(T),0.091,0.005447,3.96,3.96,0.491000,2.203000,3.016000,0.017000,1.000000,1.000000,16.1347
missense_variant,HOXB4,MISSENSE,NM_024015.4:p.Pro91Ser/c.271C>T,Cct/Tct,MODERATE,COSM1290715(1),0.00279553,0,rs201123784,0.46(T),0.002(B),1.11(L),-0.9662(T),,chr17,46655411,46655411,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro91Ser/c.271C>T|251|HOXB4|protein_coding|CODING|NM_024015.4|1|1),downstream_gene_variant(MODIFIER||1789|||MIR10A||NON_CODING|NR_029608.1||1)","K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:E2F6,IMR90:H3K27ac,NHEK:H3K27me3,GM12878:PolII,K562:Egr1,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H3K4me3",,,,0,0,0.0139,,,,,0.368085(N),1.000(D),0.27(T),0.1258(T),0.237,0.826869,3.38,1.26,0.313000,0.385000,3.025000,0.686000,0.999000,1.000000,3.2796
synonymous_variant,HOXB5,SILENT,NM_002147.3:p.Gln175Gln/c.525A>G,caA/caG,LOW,COSM4130343(1),0.936302,1,rs386451248,,,,,,chr17,46670520,46670520,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln175Gln/c.525A>G|269|HOXB5|protein_coding|CODING|NM_002147.3|1|1),intron_variant(MODIFIER|||n.170+2569T>C||HOXB-AS3||NON_CODING|NR_033202.2|1|1),intron_variant(MODIFIER|||n.170+2569T>C||HOXB-AS3||NON_CODING|NR_110331.1|1|1),intron_variant(MODIFIER|||n.170+2569T>C||HOXB-AS3||NON_CODING|NR_033201.2|1|1),intron_variant(MODIFIER|||n.73+794T>C||HOXB-AS3||NON_CODING|NR_033203.1|1|1),intron_variant(MODIFIER|||n.73+794T>C||HOXB-AS3||NON_CODING|NR_110329.1|1|1),intron_variant(MODIFIER|||n.73+794T>C||HOXB-AS3||NON_CODING|NR_033204.2|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,GM12878:H3K27me3,HUVEC:H3K36me3,IMR90:H3K56ac,IMR90:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,NH-A:H3K27me3,NH-A:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,1,0.964,0.996,0.94,0.82,1.00,,,,,,,,,,,,,,,,
synonymous_variant,HOXB6,SILENT,NM_018952.4:p.Ser29Ser/c.87G>A,tcG/tcA,LOW,,0.00279553,0,rs33990581,,,,,,chr17,46675426,46675426,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser29Ser/c.87G>A|224|HOXB6|protein_coding|CODING|NM_018952.4|3|1),intron_variant(MODIFIER|||n.171-2383C>T||HOXB-AS3||NON_CODING|NR_033202.2|1|1),intron_variant(MODIFIER|||n.171-2383C>T||HOXB-AS3||NON_CODING|NR_110331.1|1|1),intron_variant(MODIFIER|||n.171-5863C>T||HOXB-AS3||NON_CODING|NR_033201.2|1|1),intron_variant(MODIFIER|||n.74-2383C>T||HOXB-AS3||NON_CODING|NR_033203.1|1|1),intron_variant(MODIFIER|||n.74-4015C>T||HOXB-AS3||NON_CODING|NR_110329.1|1|1),intron_variant(MODIFIER|||n.73+5700C>T||HOXB-AS3||NON_CODING|NR_033204.2|1|1),intron_variant(MODIFIER|||n.166+1941C>T||HOXB-AS3||NON_CODING|NR_033205.1|1|1),intron_variant(MODIFIER|||n.166+1941C>T||HOXB-AS3||NON_CODING|NR_110330.1|1|1)","CD4:H3K9me1,H1ESC:H3K36me3,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,HSMM:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,HMEC:H3K27me3,HUVEC:H3K4me2,IMR90:H3K27ac,NHEK:H3K27me3,NHEK:H3K4me2,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0,0,0.0139,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,HOXB7,MISSENSE,NM_004502.3:p.Thr9Ala/c.25A>G,Act/Gct,MODERATE,,0.834265,0.8562,rs7406910,1(T),0.0(B),-2.47(N),-0.9701(T),,chr17,46688256,46688256,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr9Ala/c.25A>G|217|HOXB7|protein_coding|CODING|NM_004502.3|1|1),downstream_gene_variant(MODIFIER||1452||243|HOXB8|protein_coding|CODING|NM_024016.3||1)","NHEK:H3K9ac,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,IMR90:H3K56ac,H1ESC:ATF3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,IMR90:DNase1,CD4:H3K4me3,HepG2:USF1,GM12878:ATF3,HMEC:H3K4me2,GM12878:ELF1,K562:Cfos,GM12878:Yy1,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,HSMM:DNase1,HSMM:H3K9ac,HMEC:H3K27me3,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,NHEK:H3K27me3,HeLa-S3:H3K27ac,GM12878:Cfos,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:Max,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.7802,0.8228,0.9056,0.89,0.83,0.92,,0.000011(N),1.000(P),1.84(T),0.0000(T),0.025,0.406059,4.26,4.26,-0.227000,1.024000,3.598000,0.993000,1.000000,1.000000,12.0541
missense_variant,TTLL6,MISSENSE,NM_001130918.1:p.Glu712Asp/c.2136G>T,gaG/gaT,MODERATE,COSM3755626(4),0.238219,0.1736,rs2032844,0.09(T),"0.437,0.994(B,D)",1.845(L),-1.0187(T),,chr17,46847364,46847364,C,A,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu712Asp/c.2136G>T|891|TTLL6|protein_coding|CODING|NM_001130918.1|14|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu405Asp/c.1215G>T|584|TTLL6|protein_coding|CODING|NM_173623.3|7|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1605,0.3905,0.2445,0.25,0.26,0.25,,0.000038(N),1.000(P),,0.0000(T),0.074,3.541315,4.36,-3.84,0.655000,-0.440000,-1.741000,0.210000,0.002000,0.000000,5.6836
missense_variant,TTLL6,MISSENSE,NM_001130918.1:p.Trp20Gly/c.58T>G,Tgg/Ggg,MODERATE,,0.271565,0.1875,rs3959442,0.29(T),,-0.345(N),-0.9112(T),,chr17,46894377,46894377,A,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Ggg|p.Trp20Gly/c.58T>G|891|TTLL6|protein_coding|CODING|NM_001130918.1|1|1),"H1ESC:PolII,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.1708,0.4063,0.2664,0.29,0.33,0.27,,,1.000(P),,0.0000(T),0.149,-0.713124,4.19,-0.634,-0.294000,-0.138000,-0.112000,0.002000,0.000000,0.000000,5.1484
missense_variant,CALCOCO2,MISSENSE,NM_001261390.1:p.Pro413Ala/c.1237C>G,Ccc/Gcc,MODERATE,COSM4130346(1),,,rs10278,0.23(T),"0.004,0.006,0.004,0.003(B,B,B,B)",1.795(L),-0.9928(T),,chr17,46939658,46939658,C,G,het,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro413Ala/c.1237C>G|470|CALCOCO2|protein_coding|CODING|NM_001261390.1|13|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro410Ala/c.1228C>G|467|CALCOCO2|protein_coding|CODING|NM_001261391.1|13|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro347Ala/c.1039C>G|404|CALCOCO2|protein_coding|CODING|NM_001261393.1|11|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro317Ala/c.949C>G|374|CALCOCO2|protein_coding|CODING|NM_001261395.1|11|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro389Ala/c.1165C>G|446|CALCOCO2|protein_coding|CODING|NM_005831.4|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.31,0.33,0.30,,0.189977(N),1.000(P),"2.6,2.74,2.6,2.73,2.5,-0.56(T,T,T,T,T,T)",0.0000(T),0.066,2.161292,5.05,-0.674,0.655000,-0.118000,0.019000,0.572000,0.000000,0.000000,4.5603
synonymous_variant,UBE2Z,SILENT,NM_023079.4:p.Tyr282Tyr/c.846C>T,taC/taT,LOW,,0.634784,0.747,rs1058018,,,,,,chr17,47000251,47000251,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr282Tyr/c.846C>T|354|UBE2Z|protein_coding|CODING|NM_023079.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7372,0.5187,0.6044,0.56,0.54,0.58,,,,,,,,,,,,,,,,
synonymous_variant,SNF8,SILENT,NM_007241.2:p.Leu217Leu/c.651G>A,ctG/ctA,LOW,,0.233427,0.1746,rs2270576,,,,,,chr17,47007963,47007963,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu217Leu/c.651G>A|258|SNF8|protein_coding|CODING|NM_007241.2|8|1),downstream_gene_variant(MODIFIER||1541||354|UBE2Z|protein_coding|CODING|NM_023079.4||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.1881,0.4063,0.2664,0.26,0.23,0.28,,,,,,,,,,,,,,,,
missense_variant,GIP,MISSENSE,NM_004123.2:p.Ser103Gly/c.307A>G,Agt/Ggt,MODERATE,COSM148293(2),0.422524,0.6835,rs2291725,0.65(T),0.0(B),-0.205(N),-0.9738(T),,chr17,47039132,47039132,T,C,het,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser103Gly/c.307A>G|153|GIP|protein_coding|CODING|NM_004123.2|4|1),"HepG2:H3K4me2,HeLa-S3:DNase1,GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,K562:Cjun,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:FOSL2,HepG2:DNase1,HepG2:H3K27me3,K562:DNase1",,,,0.4857,0.451,0.5497,0.40,0.14,0.54,,0.476193(N),1.000(P),1.88(T),0.0000(T),0.008,-0.286910,5.03,-5.07,-1.140000,-1.203000,0.042000,0.000000,0.000000,0.007000,4.5241
synonymous_variant,B4GALNT2,SILENT,NM_153446.2:p.Glu14Glu/c.42A>G,gaA/gaG,LOW,COSM3755633(1),0.742212,0.5179,rs7207842,,,,,,chr17,47210429,47210429,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu14Glu/c.42A>G|566|B4GALNT2|protein_coding|CODING|NM_153446.2|1|1),intron_variant(MODIFIER|||c.-65+557A>G|480|B4GALNT2|protein_coding|CODING|NM_001159388.1|1|1),intron_variant(MODIFIER|||c.14+261A>G|506|B4GALNT2|protein_coding|CODING|NM_001159387.1|1|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8548,0.7824,0.8002,0.81,0.78,0.82,,,,,,,,,,,,,,,,
missense_variant,B4GALNT2,MISSENSE,NM_153446.2:p.Glu28Lys/c.82G>A,Gag/Aag,MODERATE,,0.0559105,0.0724,rs117575112,0.35(T),0.086(B),0(N),-1.0151(T),,chr17,47210469,47210469,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu28Lys/c.82G>A|566|B4GALNT2|protein_coding|CODING|NM_153446.2|1|1),intron_variant(MODIFIER|||c.-65+597G>A|480|B4GALNT2|protein_coding|CODING|NM_001159388.1|1|1),intron_variant(MODIFIER|||c.14+301G>A|506|B4GALNT2|protein_coding|CODING|NM_001159387.1|1|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.0849,0.0432,0.0716,0.05,0.03,0.06,,,0.997(N),2.1(T),0.0014(T),0.055,2.392587,2.36,2.36,0.550000,1.623000,-0.172000,0.009000,0.002000,0.000000,8.3567
missense_variant,B4GALNT2,MISSENSE,NM_153446.2:p.Ala40Asp/c.119C>A,gCt/gAt,MODERATE,COSM3755634(3),0.43111,0.129,rs7207403,0.61(T),0.0(B),0(N),-0.9194(T),,chr17,47210506,47210506,C,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala40Asp/c.119C>A|566|B4GALNT2|protein_coding|CODING|NM_153446.2|1|1),intron_variant(MODIFIER|||c.-65+634C>A|480|B4GALNT2|protein_coding|CODING|NM_001159388.1|1|1),intron_variant(MODIFIER|||c.14+338C>A|506|B4GALNT2|protein_coding|CODING|NM_001159387.1|1|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4673,0.4914,0.5348,0.56,0.54,0.57,,0.041783(N),1.000(P),2.05(T),0.0000(T),0.05,1.400523,2.04,-1.38,-0.284000,-0.291000,0.254000,0.004000,0.000000,0.000000,0.8699
synonymous_variant,B4GALNT2,SILENT,NM_153446.2:p.Asn367Asn/c.1101T>C,aaT/aaC,LOW,,0.996206,1,rs8074457,,,,,,chr17,47241604,47241604,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn307Asn/c.921T>C|506|B4GALNT2|protein_coding|CODING|NM_001159387.1|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn281Asn/c.843T>C|480|B4GALNT2|protein_coding|CODING|NM_001159388.1|8|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn367Asn/c.1101T>C|566|B4GALNT2|protein_coding|CODING|NM_153446.2|8|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9986,0.998,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,GNGT2,MISSENSE,NM_001198754.1:p.Gln17Arg/c.50A>G,cAg/cGg,MODERATE,,0.0177716,0.002,rs35638197,0(D),0.999(D),,-1.0535(T),,chr17,47284735,47284735,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln17Arg/c.50A>G|69|GNGT2|protein_coding|CODING|NM_001198754.1|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln17Arg/c.50A>G|69|GNGT2|protein_coding|CODING|NM_001198755.1|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln17Arg/c.50A>G|69|GNGT2|protein_coding|CODING|NM_001198756.1|3|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln17Arg/c.50A>G|69|GNGT2|protein_coding|CODING|NM_031498.2|3|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0123,0.0288,0.0497,0.04,0.01,0.05,,0.000000(D),1.000(D),"1.97,1.97,1.97,1.97,1.97,1.97(T,T,T,T,T,T)",0.0291(T),0.428,3.290087,4.79,4.79,0.459000,2.019000,7.031000,0.197000,1.000000,1.000000,13.4368
missense_variant,ABI3,MISSENSE,NM_016428.2:p.Phe209Ser/c.626T>C,tTt/tCt,MODERATE,COSM4130358(1),0.998403,1,rs616338,0.47(T),"0.0,0.0(B,B)",-1.245(N),-1.0009(T),,chr17,47297297,47297297,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe203Ser/c.608T>C|360|ABI3|protein_coding|CODING|NM_001135186.1|5|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe209Ser/c.626T>C|366|ABI3|protein_coding|CODING|NM_016428.2|5|1)","NHEK:CTCF,GM12878:H3K27ac,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,GM12878:ELF1,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:CTCF,GM12878:Rad21,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,GM12878:Tcf12,H1ESC:CTCF,GM06990:CTCF",,,,1,1,0.993,0.99,1.00,0.99,,0.271289(N),1.000(P),"3.04,3.04(T,T)",0.0000(T),0.253,-1.301897,3.59,2.61,-0.355000,0.807000,0.943000,0.169000,0.801000,0.026000,6.961
missense_variant,PHB,MISSENSE,NM_001281496.1:p.Leu268Phe/c.802C>T,Ctc/Ttc,MODERATE,,,,,0.05(D),0.12(B),2.455(M),-0.4989(T),,chr17,47482371,47482371,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu151Phe/c.451C>T|155|PHB|protein_coding|CODING|NM_001281497.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu268Phe/c.802C>T|272|PHB|protein_coding|CODING|NM_001281496.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu268Phe/c.802C>T|272|PHB|protein_coding|CODING|NM_001281715.1|8|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu268Phe/c.802C>T|272|PHB|protein_coding|CODING|NM_002634.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.022786(N),1.000(N),,0.2245(T),0.34,2.629904,5.56,5.56,0.655000,2.603000,6.786000,0.551000,0.999000,1.000000,12.4851
synonymous_variant,KAT7,SILENT,NM_007067.4:p.Arg256Arg/c.768A>G,agA/agG,LOW,,0.997204,0.999,rs4462645,,,,,,chr17,47888852,47888852,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg226Arg/c.678A>G|581|KAT7|protein_coding|CODING|NM_001199155.1|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg117Arg/c.351A>G|472|KAT7|protein_coding|CODING|NM_001199156.1|5|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg146Arg/c.438A>G|501|KAT7|protein_coding|CODING|NM_001199157.1|5|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg87Arg/c.261A>G|442|KAT7|protein_coding|CODING|NM_001199158.1|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg256Arg/c.768A>G|611|KAT7|protein_coding|CODING|NM_007067.4|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ITGA3,SILENT,NM_005501.2:p.Ala391Ala/c.1173T>C,gcT/gcC,LOW,,0.00199681,0,rs117783166,,,,,,chr17,48151296,48151296,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala391Ala/c.1173T>C|1051|ITGA3|protein_coding|CODING|NM_002204.2|8|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala391Ala/c.1173T>C|1066|ITGA3|protein_coding|CODING|NM_005501.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,NHEK:DNase1",,,,0,0.0014,0.0089,0.00,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,PDK2,SILENT,NM_002611.4:p.Ser80Ser/c.240C>T,tcC/tcT,LOW,COSM436818(3),0.435104,0.38,rs9839,,,,,,chr17,48174908,48174908,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser16Ser/c.48C>T|343|PDK2|protein_coding|CODING|NM_001199898.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser16Ser/c.48C>T|343|PDK2|protein_coding|CODING|NM_001199899.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser80Ser/c.240C>T|199|PDK2|protein_coding|CODING|NM_001199900.1|2|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser80Ser/c.240C>T|407|PDK2|protein_coding|CODING|NM_002611.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.4395,0.2783,0.36,0.47,0.29,,,,,,,,,,,,,,,,
synonymous_variant,PDK2,SILENT,NM_001199900.1:p.Gly185Gly/c.555G>A,ggG/ggA,LOW,,0.186502,0.0238,rs11237,,,,,,chr17,48183471,48183471,G,A,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly185Gly/c.555G>A|199|PDK2|protein_coding|CODING|NM_001199900.1|4|1),intron_variant(MODIFIER|||c.325+38G>A|343|PDK2|protein_coding|CODING|NM_001199898.1|5|1),intron_variant(MODIFIER|||c.325+38G>A|343|PDK2|protein_coding|CODING|NM_001199899.1|4|1),intron_variant(MODIFIER|||c.517+38G>A|407|PDK2|protein_coding|CODING|NM_002611.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1513,0.1499,0.2942,0.28,0.28,0.29,,,,,,,,,,,,,,,,
missense_variant,PPP1R9B,MISSENSE,NM_032595.4:p.Arg622Gln/c.1865G>A,cGg/cAg,MODERATE,,0.126997,0.002,rs1569116,,,,,,chr17,48216944,48216944,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg622Gln/c.1865G>A|815|PPP1R9B|protein_coding|CODING|NM_032595.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.1865G>A|815|PPP1R9B|protein_coding|CODING|NM_032595.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.0735,0.1511,0.18,0.23,0.15,,,,,,,,,,,,,,,,
missense_variant,COL1A1,MISSENSE,NM_000088.3:p.Thr1075Ala/c.3223A>G,Acc/Gcc,MODERATE,COSM4130378(1),0.978834,1,rs1800215,1(T),0.0(B),-0.31(N),-0.9360(T),,chr17,48265495,48265495,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1075Ala/c.3223A>G|1464|COL1A1|protein_coding|CODING|NM_000088.3|44|1),"H1ESC:H3K36me3,IMR90:H3K9ac,NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9969,0.9942,0.9751,0.97,0.95,0.98,,0.000027(N),1.000(P),-3.21(D),0.0000(T),0.2,-1.115160,5.13,5.13,-0.642000,1.179000,0.571000,0.026000,0.995000,0.062000,11.6795
synonymous_variant,COL1A1,SILENT,NM_000088.3:p.Thr766Thr/c.2298T>C,acT/acC,LOW,COSM4130379(1),0.9998,1,rs2734272,,,,,,chr17,48268223,48268223,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr766Thr/c.2298T>C|1464|COL1A1|protein_coding|CODING|NM_000088.3|33|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,IMR90:H3K9ac,NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K36me3,HeLa-S3:H3K36me3,IMR90:H3K18ac,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9986,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,TMEM92,MISSENSE,NM_001168215.1:p.Ser90Thr/c.269G>C,aGc/aCc,MODERATE,,0.543331,0.5982,rs6504642,1(T),0.0(B),0(N),-0.9871(T),,chr17,48356260,48356260,G,C,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser90Thr/c.269G>C|159|TMEM92|protein_coding|CODING|NM_001168215.1|5|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser90Thr/c.269G>C|159|TMEM92|protein_coding|CODING|NM_153229.2|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5419,0.5677,0.5467,0.60,0.61,0.59,,0.243598(N),1.000(P),"3.47,3.47(T,T)",0.0000(T),0.009,-1.170336,4.38,-0.12,-0.357000,-0.394000,-0.745000,0.001000,0.000000,0.000000,6.2699
synonymous_variant,XYLT2,SILENT,NM_022167.3:p.Glu59Glu/c.177G>A,gaG/gaA,LOW,COSM436838(1),0.131789,0.0784,rs739990,,,,,,chr17,48431032,48431032,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu59Glu/c.177G>A|865|XYLT2|protein_coding|CODING|NM_022167.3|2|1),non_coding_exon_variant(MODIFIER|||n.286G>A||XYLT2||CODING|NR_110010.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1196,0.2795,0.2147,0.17,0.07,0.22,,,,,,,,,,,,,,,,
synonymous_variant,XYLT2,SILENT,NM_022167.3:p.Pro114Pro/c.342C>T,ccC/ccT,LOW,COSM3755654(2),0.132388,0.0794,rs739989,,,,,,chr17,48431197,48431197,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro114Pro/c.342C>T|865|XYLT2|protein_coding|CODING|NM_022167.3|2|1),non_coding_exon_variant(MODIFIER|||n.451C>T||XYLT2||CODING|NR_110010.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1196,0.2795,0.2147,0.16,0.06,0.20,,,,,,,,,,,,,,,,
missense_variant,XYLT2,MISSENSE,NM_022167.3:p.Arg305Thr/c.914G>C,aGg/aCg,MODERATE,COSM4000192(1),0.13139,0.0784,rs12451299,0.84(T),0.006(B),-1.01(N),-0.9025(T),,chr17,48432324,48432324,G,C,het,"missense_variant(MODERATE|MISSENSE|aGg/aCg|p.Arg305Thr/c.914G>C|865|XYLT2|protein_coding|CODING|NM_022167.3|4|1),non_coding_exon_variant(MODIFIER|||n.1023G>C||XYLT2||CODING|NR_110010.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1196,0.2795,0.2127,0.17,0.07,0.22,,0.000258(D),0.972(P),"2.78,2.78(T,T)",0.0000(T),0.179,-0.258362,4.61,3.57,0.306000,2.399000,2.212000,0.966000,1.000000,1.000000,3.2345
synonymous_variant,XYLT2,SILENT,NM_022167.3:p.Tyr523Tyr/c.1569T>C,taT/taC,LOW,COSM3755655(2),0.382588,0.1111,rs4794136,,,,,,chr17,48433958,48433958,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr523Tyr/c.1569T>C|865|XYLT2|protein_coding|CODING|NM_022167.3|8|1),non_coding_exon_variant(MODIFIER|||n.1678T>C||XYLT2||CODING|NR_110010.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3108,0.572,0.4483,0.48,0.50,0.48,,,,,,,,,,,,,,,,
missense_variant,XYLT2,MISSENSE,NM_022167.3:p.Thr801Arg/c.2402C>G,aCa/aGa,MODERATE,COSM1384191(2),0.250998,0.0962,rs6504649,0(D),0.036(B),0.345(N),-0.9078(T),,chr17,48437456,48437456,C,G,het,"missense_variant(MODERATE|MISSENSE|aCa/aGa|p.Thr801Arg/c.2402C>G|865|XYLT2|protein_coding|CODING|NM_022167.3|11|1),non_coding_exon_variant(MODIFIER|||n.2315C>G||XYLT2||CODING|NR_110010.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000002642.2,,0.3088,0.2767,0.4006,0.34,0.24,0.40,,0.017549(N),0.998(P),3.69(T),0.0000(T),0.184,0.281686,4.99,1.87,0.655000,0.273000,3.021000,0.004000,0.000000,0.027000,5.8296
missense_variant,EME1,MISSENSE,NM_001166131.1:p.Glu69Asp/c.207A>C,gaA/gaC,MODERATE,,0.745407,0.244,rs3760413,1(T),"0.001,0.0(B,B)",-0.255(N),-0.9547(T),,chr17,48452776,48452776,A,C,hom,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu69Asp/c.207A>C|583|EME1|protein_coding|CODING|NM_001166131.1|2|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu69Asp/c.207A>C|570|EME1|protein_coding|CODING|NM_152463.2|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6881,0.8905,0.8777,0.92,0.97,0.89,,0.882892(N),1.000(P),"2.87,2.86,2.16,2.86(T,T,T,T)",0.0000(T),0.124,-1.770481,5.65,-6.36,-1.758000,-1.189000,-1.563000,0.004000,0.000000,0.000000,1.0925
synonymous_variant,EME1,SILENT,NM_001166131.1:p.Thr311Thr/c.933A>T,acA/acT,LOW,COSM148296(2),0.142772,0.0794,rs2189712,0(D),,,-0.9526(T),,chr17,48455985,48455985,A,T,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr311Thr/c.933A>T|583|EME1|protein_coding|CODING|NM_001166131.1|4|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr311Thr/c.933A>T|570|EME1|protein_coding|CODING|NM_152463.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.2911,0.2465,0.20,0.08,0.26,,,1.000(P),2.15(T),0.0000(T),.,-0.290728,5.32,-1.3,-0.366000,0.137000,-0.478000,0.004000,0.071000,0.000000,0.2198
missense_variant,EME1,MISSENSE,NM_001166131.1:p.Ile350Thr/c.1049T>C,aTc/aCc,MODERATE,COSM148297(4),0.142572,0.0804,rs12450550,0.04(D),"0.292,0.318(B,B)",2.005(M),-1.0219(T),,chr17,48456193,48456193,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile350Thr/c.1049T>C|583|EME1|protein_coding|CODING|NM_001166131.1|5|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile350Thr/c.1049T>C|570|EME1|protein_coding|CODING|NM_152463.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.2911,0.2445,0.20,0.08,0.26,,0.792688(N),1.000(P),"1.89,1.89,1.89(T,T,T)",0.0000(T),0.525,2.279564,5.58,2.1,-0.451000,0.468000,1.796000,0.240000,0.023000,0.076000,8.9778
synonymous_variant,ABCC3,SILENT,NM_003786.3:p.Glu1503Glu/c.4509A>G,gaA/gaG,LOW,,0.104034,0.0417,rs1051640,,,,,,chr17,48768486,48768486,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1503Glu/c.4509A>G|1527|ABCC3|protein_coding|CODING|NM_003786.3|31|1),"HMEC:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1022,0.1095,0.1829,0.15,0.08,0.18,,,,,,,,,,,,,,,,
synonymous_variant,WFIKKN2,SILENT,NM_175575.5:p.Ser60Ser/c.180C>T,agC/agT,LOW,COSM436917(1),0.0199681,0,rs77632597,,,,,,chr17,48913478,48913478,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser60Ser/c.180C>T|576|WFIKKN2|protein_coding|CODING|NM_175575.5|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.002,0.0375,0.0656,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,WFIKKN2,MISSENSE,NM_175575.5:p.Val96Met/c.286G>A,Gtg/Atg,MODERATE,,0.0920527,0.0169,rs35300894,0.02(D),0.721(P),1.245(L),-0.9292(T),,chr17,48916935,48916935,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val96Met/c.286G>A|576|WFIKKN2|protein_coding|CODING|NM_175575.5|2|1),HepG2:H3K27me3,,,,0.2577,0.0173,0.0278,0.05,0.09,0.03,,0.000667(D),0.014(P),"-1.63,-1.55(D,D)",0.0046(T),0.292,3.143493,5.53,5.53,0.645000,2.593000,2.195000,0.986000,0.917000,0.994000,14.6853
synonymous_variant,WFIKKN2,SILENT,NM_175575.5:p.Gly320Gly/c.960C>T,ggC/ggT,LOW,COSM1384382(1),0.109625,0.0377,rs36031777,,,,,,chr17,48917609,48917609,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly320Gly/c.960C>T|576|WFIKKN2|protein_coding|CODING|NM_175575.5|2|1),HepG2:H3K27me3,,,,0.2587,0.0274,0.0278,0.06,0.14,0.03,,,,,,,,,,,,,,,,
synonymous_variant,WFIKKN2,SILENT,NM_175575.5:p.Pro332Pro/c.996A>C,ccA/ccC,LOW,,0.0928514,0.0169,rs35114322,,,,,,chr17,48917645,48917645,A,C,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro332Pro/c.996A>C|576|WFIKKN2|protein_coding|CODING|NM_175575.5|2|1),HepG2:H3K27me3,,,,0.2311,0.0216,0.0358,0.06,0.11,0.03,,,,,,,,,,,,,,,,
synonymous_variant,TOB1,SILENT,NM_001243877.1:p.Lys319Lys/c.957A>G,aaA/aaG,LOW,,0.63139,0.501,rs4626,,,,,,chr17,48940422,48940422,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys180Lys/c.540A>G|206|TOB1|protein_coding|CODING|NM_001243885.1|2|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys319Lys/c.957A>G|345|TOB1|protein_coding|CODING|NM_001243877.1|3|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys319Lys/c.957A>G|345|TOB1|protein_coding|CODING|NM_005749.3|2|1)","H1ESC:H3K36me3,HepG2:H3K4me2,NHEK:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H4K20me1,HSMM:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.7065,0.5461,0.6978,0.70,0.67,0.72,,,,,,,,,,,,,,,,
synonymous_variant,UTP18,SILENT,NM_016001.2:p.Gly234Gly/c.702A>C,ggA/ggC,LOW,COSM3755671(2),0.426118,0.6071,rs2318789,,,,,,chr17,49350802,49350802,A,C,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly234Gly/c.702A>C|556|UTP18|protein_coding|CODING|NM_016001.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5808,0.4424,0.4791,0.37,0.17,0.47,,,,,,,,,,,,,,,,
synonymous_variant,CA10,SILENT,NM_001082533.1:p.Tyr235Tyr/c.705C>T,taC/taT,LOW,COSM148301(3),0.364018,0.3442,rs11870209,,,,,,chr17,49713300,49713300,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr235Tyr/c.705C>T|328|CA10|protein_coding|CODING|NM_001082533.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr235Tyr/c.705C>T|328|CA10|protein_coding|CODING|NM_001082534.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr235Tyr/c.705C>T|328|CA10|protein_coding|CODING|NM_020178.4|7|1)",,,,,0.3497,0.4496,0.4911,0.41,0.28,0.48,,,,,,,,,,,,,,,,
missense_variant,KIF2B,MISSENSE,NM_032559.4:p.Ala112Val/c.335C>T,gCc/gTc,MODERATE,,0.210264,0.2034,rs3803824,0.48(T),0.01(B),0.895(L),-0.9964(T),,chr17,51900729,51900729,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala112Val/c.335C>T|673|KIF2B|protein_coding|CODING|NM_032559.4|1|1),,,,,0.2474,0.268,0.3847,0.30,0.09,0.41,,0.084805(N),1.000(P),-0.91(T),0.0000(T),0.058,-0.432000,4.99,4.02,0.655000,1.446000,0.532000,0.004000,0.002000,0.000000,7.5842
synonymous_variant,KIF2B,SILENT,NM_032559.4:p.Leu230Leu/c.690A>G,ttA/ttG,LOW,COSM4130416(1),0.762181,0.8145,rs3803825,,,,,,chr17,51901084,51901084,A,G,hom,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu230Leu/c.690A>G|673|KIF2B|protein_coding|CODING|NM_032559.4|1|1),,,,,0.589,0.7651,0.841,0.84,0.80,0.85,,,,,,,,,,,,,,,,
synonymous_variant,KIF2B,SILENT,NM_032559.4:p.Leu331Leu/c.991C>T,Ctg/Ttg,LOW,COSM3755675(1),0.334465,0.5863,rs3803826,,,,,,chr17,51901385,51901385,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu331Leu/c.991C>T|673|KIF2B|protein_coding|CODING|NM_032559.4|1|1),,,,,0.2955,0.4107,0.3658,0.29,0.15,0.36,,,,,,,,,,,,,,,,
missense_variant,KIF2B,MISSENSE,NM_032559.4:p.Pro417Ser/c.1249C>T,Cct/Tct,MODERATE,,0.760184,0.8145,rs4561518,1(T),0.0(B),-2.16(N),-0.9404(T),,chr17,51901643,51901643,C,T,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro417Ser/c.1249C>T|673|KIF2B|protein_coding|CODING|NM_032559.4|1|1),,,,,0.589,0.7608,0.834,0.83,0.80,0.84,,0.000578(N),0.996(P),-0.77(T),0.0000(T),0.058,-1.797937,5.73,5.73,-0.254000,1.101000,3.483000,0.090000,0.357000,0.996000,11.3956
missense_variant,KIF2B,MISSENSE,NM_032559.4:p.Arg437Gly/c.1309C>G,Cgg/Ggg,MODERATE,,0.76238,0.8145,rs4561519,1(T),0.0(B),-1.29(N),-0.9591(T),,chr17,51901703,51901703,C,G,hom,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg437Gly/c.1309C>G|673|KIF2B|protein_coding|CODING|NM_032559.4|1|1),,,,,0.59,0.7651,0.841,0.84,0.80,0.85,,0.008646(N),1.000(P),-0.9(T),0.0000(T),0.036,-1.970271,5.73,5.73,-0.120000,1.569000,7.980000,0.009000,0.069000,1.000000,9.8616
synonymous_variant,KIF2B,SILENT,NM_032559.4:p.Leu620Leu/c.1858C>T,Ctg/Ttg,LOW,,0.760184,0.8145,rs3826355,,,,,,chr17,51902252,51902252,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu620Leu/c.1858C>T|673|KIF2B|protein_coding|CODING|NM_032559.4|1|1),,,,,0.589,0.7608,0.834,0.83,0.80,0.84,,,,,,,,,,,,,,,,
missense_variant,TOM1L1,MISSENSE,NM_005486.2:p.Arg164Gly/c.490A>G,Aga/Gga,MODERATE,,,,rs200659319,0.3(T),"0.003,0.001,0.001,0.001,0.0,0.001(B,B,B,B,B,B)",0.695(N),-1.0411(T),,chr17,52991226,52991226,A,G,het,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg164Gly/c.490A>G|476|TOM1L1|protein_coding|CODING|NM_005486.2|5|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.584737(U),1.000(N),"1.82,0.99,1.86,1.86(T,T,T,T)",0.0551(T),0.261,2.048380,5.31,-2.88,-0.408000,-0.767000,-0.134000,0.784000,0.000000,0.000000,6.2478
missense_variant,COX11,MISSENSE,NM_001162862.1:p.Val223Gly/c.668T>G,gTc/gGc,MODERATE,,0.151558,0.129,rs1802212,,,,,,chr17,53038654,53038654,A,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val223Gly/c.668T>G|231|COX11|protein_coding|CODING|NM_001162862.1|4|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser228Ala/c.682T>G|230|COX11|protein_coding|CODING|NM_001162861.1|4|1),3_prime_UTR_variant(MODIFIER||1440|c.*1440T>G|276|COX11|protein_coding|CODING|NM_004375.3|4|1),3_prime_UTR_variant(MODIFIER||667|c.*60A>C|476|TOM1L1|protein_coding|CODING|NM_005486.2|16|1),non_coding_exon_variant(MODIFIER|||n.725T>G||COX11||CODING|NR_027942.1|4|1),non_coding_exon_variant(MODIFIER|||n.739T>G||COX11||CODING|NR_027941.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1697,0.1585,0.2714,,,,,,,,,,,,,,,,,,,
missense_variant,STXBP4,MISSENSE,NM_178509.5:p.Gly92Arg/c.274G>A,Gga/Aga,MODERATE,,0.852436,0.8958,rs1156287,1(T),"0.0,0.0,0.0(B,B,B)",-0.985(N),-0.9680(T),,chr17,53076799,53076799,G,A,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly92Arg/c.274G>A|553|STXBP4|protein_coding|CODING|NM_178509.5|5|1),"K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.8057,0.8516,0.7386,0.78,0.91,0.72,,0.000031(N),1.000(P),"1.66,2.3,1.66,1.66,2.3(T,T,T,T,T)",0.0000(T),0.106,-2.065508,5.92,3.56,-0.254000,0.477000,1.996000,0.122000,0.997000,0.919000,6.3876
synonymous_variant,STXBP4,SILENT,NM_178509.5:p.Ala479Ala/c.1437G>A,gcG/gcA,LOW,COSM3755681(1),0.189097,0.2431,rs386615195,,,,,,chr17,53158492,53158492,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala479Ala/c.1437G>A|553|STXBP4|protein_coding|CODING|NM_178509.5|16|1),"K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.2771,0.1484,0.2455,0.18,0.08,0.23,,,,,,,,,,,,,,,,
synonymous_variant,PCTP,SILENT,NM_021213.3:p.Ile161Ile/c.483C>T,atC/atT,LOW,COSM4130420(1),0.777955,0.9405,rs2960062,,,,,,chr17,53851228,53851228,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile89Ile/c.267C>T|142|PCTP|protein_coding|CODING|NM_001102402.2|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile161Ile/c.483C>T|214|PCTP|protein_coding|CODING|NM_021213.3|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9243,0.8487,0.9612,0.81,0.49,0.97,,,,,,,,,,,,,,,,
synonymous_variant,ANKFN1,SILENT,NM_153228.2:p.Leu214Leu/c.642C>A,ctC/ctA,LOW,,0.615615,0.9573,rs386623542,,,,,,chr17,54450038,54450038,C,A,het,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu214Leu/c.642C>A|763|ANKFN1|protein_coding|CODING|NM_153228.2|6|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.635,0.755,0.7038,0.54,0.27,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ANKFN1,SILENT,NM_153228.2:p.Lys246Lys/c.738G>A,aaG/aaA,LOW,,0.672324,0.9583,rs8069322,,,,,,chr17,54450134,54450134,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys246Lys/c.738G>A|763|ANKFN1|protein_coding|CODING|NM_153228.2|6|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.681,0.7839,0.7614,0.61,0.37,0.73,,,,,,,,,,,,,,,,
synonymous_variant,DGKE,SILENT,NM_003647.2:p.Thr193Thr/c.579A>C,acA/acC,LOW,,0.698283,0.9157,rs3760158,,,,,,chr17,54921494,54921494,A,C,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr193Thr/c.579A>C|567|DGKE|protein_coding|CODING|NM_003647.2|3|1),"HUVEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5624,0.8012,0.7087,0.70,0.62,0.74,,,,,,,,,,,,,,,,
missense_variant,TRIM25,MISSENSE,NM_005082.4:p.Pro358Leu/c.1073C>T,cCc/cTc,MODERATE,COSM4000224(1),0.774361,0.8095,rs205498,0.33(T),0.019(B),0(N),-0.9557(T),,chr17,54978794,54978794,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro358Leu/c.1073C>T|630|TRIM25|protein_coding|CODING|NM_005082.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7178,0.7061,0.7535,0.76,0.81,0.74,,0.147272(N),0.006(P),"-0.21,-0.21(T,T)",0.0000(T),0.058,1.614070,4.16,0.603,-1.105000,0.050000,-0.009000,0.116000,0.992000,0.352000,3.9494
synonymous_variant,COIL,SILENT,NM_004645.2:p.Glu251Glu/c.753A>G,gaA/gaG,LOW,,0.923522,0.998,rs8071691,,,,,,chr17,55027850,55027850,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu251Glu/c.753A>G|576|COIL|protein_coding|CODING|NM_004645.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.909,0.8415,0.832,0.87,0.96,0.82,,,,,,,,,,,,,,,,
missense_variant,COIL,MISSENSE,NM_004645.2:p.Val145Ile/c.433G>A,Gtc/Atc,MODERATE,,0.0888578,0.005,rs61731978,0.18(T),0.053(B),0(N),-1.0081(T),,chr17,55028170,55028170,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val145Ile/c.433G>A|576|COIL|protein_coding|CODING|NM_004645.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1534,0.2176,0.1252,0.09,0.03,0.12,,0.581254(N),1.000(P),0.99(T),0.0000(T),0.005,2.010244,5.62,-0.916,0.650000,0.207000,0.214000,0.914000,0.003000,0.012000,6.4384
synonymous_variant,SCPEP1,SILENT,NM_021626.2:p.Leu409Leu/c.1225T>C,Ttg/Ctg,LOW,,0.0756789,0.002,rs12940187,,,,,,chr17,55079471,55079471,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu409Leu/c.1225T>C|452|SCPEP1|protein_coding|CODING|NM_021626.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0787,0.1671,0.17,0.14,0.04,0.18,,,,,,,,,,,,,,,,
missense_variant,AKAP1,MISSENSE,NM_001242902.1:p.Arg124Cys/c.370C>T,Cgc/Tgc,MODERATE,,0.00798722,0.001,rs17833723,0.15(T),0.005(B),0.895(L),-0.9994(T),,chr17,55183195,55183195,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg124Cys/c.370C>T|903|AKAP1|protein_coding|CODING|NM_001242902.1|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg124Cys/c.370C>T|903|AKAP1|protein_coding|CODING|NM_001242903.1|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg124Cys/c.370C>T|903|AKAP1|protein_coding|CODING|NM_003488.3|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0231,0.0209,0.02,0.00,0.03,,0.830966(N),1.000(N),"2.08,2.08,2.08(T,T,T)",0.0126(T),0.33,1.610195,5.91,-0.868,-0.136000,-0.357000,-1.473000,0.004000,0.000000,0.000000,6.5905
synonymous_variant,AKAP1,SILENT,NM_001242902.1:p.Asp126Asp/c.378T>C,gaT/gaC,LOW,,0.478235,0.8046,rs2230772,,,,,,chr17,55183203,55183203,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp126Asp/c.378T>C|903|AKAP1|protein_coding|CODING|NM_001242902.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp126Asp/c.378T>C|903|AKAP1|protein_coding|CODING|NM_001242903.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp126Asp/c.378T>C|903|AKAP1|protein_coding|CODING|NM_003488.3|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.4798,0.4026,0.39,0.35,0.41,,,,,,,,,,,,,,,,
synonymous_variant,AKAP1,SILENT,NM_001242902.1:p.Asp297Asp/c.891T>C,gaT/gaC,LOW,,0.590655,0.8115,rs1050515,,,,,,chr17,55183716,55183716,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp297Asp/c.891T>C|903|AKAP1|protein_coding|CODING|NM_001242902.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp297Asp/c.891T>C|903|AKAP1|protein_coding|CODING|NM_001242903.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp297Asp/c.891T>C|903|AKAP1|protein_coding|CODING|NM_003488.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4581,0.549,0.5318,0.54,0.57,0.53,,,,,,,,,,,,,,,,
synonymous_variant,CUEDC1,SILENT,NM_001271875.1:p.Glu248Glu/c.744G>A,gaG/gaA,LOW,,0.234026,0.0069,rs35704289,,,,,,chr17,55950064,55950064,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu248Glu/c.744G>A|386|CUEDC1|protein_coding|CODING|NM_001271875.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu248Glu/c.744G>A|386|CUEDC1|protein_coding|CODING|NM_001292025.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2761,0.3285,0.3221,0.32,0.27,0.34,,,,,,,,,,,,,,,,
missense_variant,OR4D1,MISSENSE,NM_012374.1:p.Leu174Ile/c.520C>A,Cta/Ata,MODERATE,COSM148303(2),0.265375,0.1478,rs7218964,1(T),0.536(P),-0.225(N),-1.0971(T),,chr17,56233034,56233034,C,A,het,"missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu174Ile/c.520C>A|310|OR4D1|protein_coding|CODING|NM_012374.1|1|1),upstream_gene_variant(MODIFIER||1286|||MSX2P1||NON_CODING|NR_002307.1||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2382,0.2378,0.1809,0.26,0.40,0.19,,0.006262(U),0.753(P),8.91(T),0.0000(T),0.088,0.827031,5.63,5.63,0.543000,2.652000,-0.453000,0.100000,0.984000,0.000000,12.168
missense_variant,OR4D2,MISSENSE,NM_001004707.3:p.Cys97Ser/c.290G>C,tGc/tCc,MODERATE,COSM1318468(1),0.0876597,0.002,rs80043692,0(D),0.998(D),3.81(H),-1.1209(T),,chr17,56247306,56247306,G,C,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys97Ser/c.290G>C|307|OR4D2|protein_coding|CODING|NM_001004707.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1207,0.0346,0.1153,0.12,0.13,0.11,,0.000011(D),0.000(P),6.7(T),0.0001(T),0.351,3.976158,5.71,5.71,0.609000,2.860000,7.955000,0.686000,1.000000,1.000000,17.7074
synonymous_variant,OR4D2,SILENT,NM_001004707.3:p.Val146Val/c.438A>G,gtA/gtG,LOW,,0.091853,0.002,rs9912728,,,,,,chr17,56247454,56247454,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val146Val/c.438A>G|307|OR4D2|protein_coding|CODING|NM_001004707.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1227,0.0375,0.1153,0.12,0.14,0.11,,,,,,,,,,,,,,,,
missense_variant,OR4D2,MISSENSE,NM_001004707.3:p.Leu187Phe/c.559C>T,Ctt/Ttt,MODERATE,,0.0878594,0.002,rs74730740,0(D),1.0(D),4.605(H),-1.1328(T),,chr17,56247575,56247575,C,T,het,missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu187Phe/c.559C>T|307|OR4D2|protein_coding|CODING|NM_001004707.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1227,0.0346,0.1153,0.12,0.13,0.11,,0.000167(D),0.000(P),7.58(T),0.0001(T),0.387,4.539384,5.71,5.71,0.609000,2.860000,2.584000,0.984000,1.000000,0.979000,17.7075
missense_variant,EPX,MISSENSE,NM_000502.4:p.Gln122His/c.366G>C,caG/caC,MODERATE,,0.213658,0.0923,rs11652709,0.53(T),0.999(D),2.56(M),-0.9632(T),,chr17,56271094,56271094,G,C,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln122His/c.366G>C|715|EPX|protein_coding|CODING|NM_000502.4|4|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2679,0.1873,0.3091,0.29,0.24,0.32,,0.000012(D),0.321(P),-0.55(T),0.0000(T),0.107,1.628503,4.6,3.62,0.442000,1.058000,2.524000,0.142000,0.993000,0.996000,7.6582
synonymous_variant,EPX,SILENT,NM_000502.4:p.Arg220Arg/c.660A>G,cgA/cgG,LOW,,0.501398,0.244,rs2240815,,,,,,chr17,56272390,56272390,A,G,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg220Arg/c.660A>G|715|EPX|protein_coding|CODING|NM_000502.4|6|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5092,0.2968,0.4354,0.56,0.78,0.44,,,,,,,,,,,,,,,,
synonymous_variant,LPO,SILENT,NM_006151.2:p.Pro617Pro/c.1851G>A,ccG/ccA,LOW,COSM4000230(2),0.169129,0.12,rs8178409,,,,,,chr17,56344867,56344867,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro534Pro/c.1602G>A|629|LPO|protein_coding|CODING|NM_001160102.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro617Pro/c.1851G>A|712|LPO|protein_coding|CODING|NM_006151.2|12|1),non_coding_exon_variant(MODIFIER|||n.2079G>A||LPO||CODING|NR_027647.1|11|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2025,0.1369,0.1938,0.20,0.18,0.20,,,,,,,,,,,,,,,,
missense_variant,RNF43,MISSENSE,NM_017763.4:p.Leu418Met/c.1252C>A,Ctg/Atg,MODERATE,COSM4130449(1),0.399561,0.4494,rs2526374,0.08(T),"0.677,0.836,0.478(P,P,P)",0.695(N),-0.9173(T),,chr17,56435885,56435885,G,T,hom,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu418Met/c.1252C>A|783|RNF43|protein_coding|CODING|NM_017763.4|9|1),"GM12878:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3712,0.4669,0.329,0.37,0.40,0.36,,0.009510(N),1.000(P),"3.15,3.0(T,T)",0.0000(T),0.111,1.974857,4.2,4.2,0.195000,2.179000,2.082000,0.574000,0.040000,0.025000,9.6456
missense_variant,RNF43,MISSENSE,NM_017763.4:p.Arg343His/c.1028G>A,cGc/cAc,MODERATE,COSM437002(1),0.0652955,0.001,rs34523089,0.12(T),"0.005,0.992,0.981(B,D,D)",0.805(L),-1.0375(T),,chr17,56436109,56436109,C,T,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg343His/c.1028G>A|783|RNF43|protein_coding|CODING|NM_017763.4|9|1),"GM12878:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0706,0.1167,0.163,0.12,0.04,0.16,,0.038106(N),0.107(P),"3.14,2.99(T,T)",0.0002(T),0.123,3.058842,3.66,2.69,0.400000,0.886000,2.096000,0.937000,0.999000,1.000000,8.7609
missense_variant,RNF43,MISSENSE,NM_017763.4:p.Ile47Val/c.139A>G,Att/Gtt,MODERATE,,0.373802,0.5258,rs3744093,0.49(T),"0.003,0.001(B,B)",0.345(N),-0.9537(T),,chr17,56492800,56492800,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile47Val/c.139A>G|783|RNF43|protein_coding|CODING|NM_017763.4|2|1),"NHEK:H3K9ac,NHEK:H3K27ac,HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HepG2:Sin3Ak20,HepG2:H3K27ac,HepG2:PolII,HMEC:H3K4me2,NH-A:H3K27me3,HepG2:HEY1,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:H3K79me2,HepG2:DNase1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,GM12878:Tcf12",,,,0.3834,0.5317,0.3718,0.33,0.22,0.39,,0.068731(N),0.000(P),"3.24,2.99(T,T)",0.0000(T),0.057,0.992132,5.49,3.19,0.533000,0.973000,1.086000,0.998000,1.000000,0.997000,6.2359
missense_variant,HSF5,MISSENSE,NM_001080439.2:p.Asn329Thr/c.986A>C,aAt/aCt,MODERATE,,1,1,rs1017089,1(T),0.0(B),-0.695(N),-0.9334(T),,chr17,56544280,56544280,T,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aCt|p.Asn329Thr/c.986A>C|596|HSF5|protein_coding|CODING|NM_001080439.2|3|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.000585(N),1.000(P),-0.5(T),0.0000(T),0.025,0.579872,5.81,5.81,-0.187000,1.476000,3.237000,0.985000,1.000000,1.000000,13.5763
missense_variant,MTMR4,MISSENSE,NM_004687.4:p.Val297Gly/c.890T>G,gTg/gGg,MODERATE,,0.397165,0.5298,rs2302189,0.28(T),0.628(P),1.745(L),-1.0434(T),,chr17,56584205,56584205,A,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val297Gly/c.890T>G|1195|MTMR4|protein_coding|CODING|NM_004687.4|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Dental_caries,,,0.3804,0.5591,0.3688,0.34,0.28,0.38,,0.000038(D),0.000(P),-3.1(D),0.0000(T),0.362,3.143399,5.63,4.55,0.524000,1.091000,3.781000,0.992000,1.000000,1.000000,10.8537
missense_variant,MTMR4,MISSENSE,NM_004687.4:p.Leu170Val/c.508C>G,Ctg/Gtg,MODERATE,,0.394968,0.5188,rs3744108,0.21(T),0.1(B),0.675(N),-0.9707(T),,chr17,56585872,56585872,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu170Val/c.508C>G|1195|MTMR4|protein_coding|CODING|NM_004687.4|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3804,0.5591,0.3648,0.34,0.28,0.37,,0.000086(D),0.001(P),-3.1(D),0.0000(T),0.223,1.896361,6.08,5.11,0.655000,1.585000,1.698000,0.997000,1.000000,1.000000,8.4868
synonymous_variant,SEPT4,SILENT,NM_001256782.1:p.Thr414Thr/c.1242A>G,acA/acG,LOW,,0.400759,0.5188,rs1057068,,,,,,chr17,56598439,56598439,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr391Thr/c.1173A>G|470|SEPT4|protein_coding|CODING|NM_001198713.1|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr414Thr/c.1242A>G|493|SEPT4|protein_coding|CODING|NM_001256782.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr252Thr/c.756A>G|331|SEPT4|protein_coding|CODING|NM_001256822.1|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr399Thr/c.1197A>G|478|SEPT4|protein_coding|CODING|NM_004574.4|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr380Thr/c.1140A>G|459|SEPT4|protein_coding|CODING|NM_080416.3|10|1),3_prime_UTR_variant(MODIFIER||804|c.*428A>G|274|SEPT4|protein_coding|CODING|NM_080415.3|9|1),intron_variant(MODIFIER|||n.141+1101T>C||LOC101927688||NON_CODING|NR_110810.1|1|1),non_coding_exon_variant(MODIFIER|||n.1858A>G||SEPT4||CODING|NR_037155.2|9|1),non_coding_exon_variant(MODIFIER|||n.1490A>G||SEPT4||CODING|NR_104196.1|10|1),non_coding_exon_variant(MODIFIER|||n.1384A>G||SEPT4||CODING|NR_104197.1|9|1)","NHEK:CTCF,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.362,0.5778,0.3708,0.35,0.30,0.38,,,,,,,,,,,,,,,,
missense_variant,C17orf47,MISSENSE,NM_001038704.2:p.Pro88Thr/c.262C>A,Ccc/Acc,MODERATE,,0.896366,1,rs8071623,1(T),0.0(B),-0.345(N),-0.9890(T),,chr17,56621286,56621286,G,T,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro88Thr/c.262C>A|570|C17orf47|protein_coding|CODING|NM_001038704.2|1|1),intron_variant(MODIFIER|||n.400+327G>T||LOC101927688||NON_CODING|NR_110810.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9151,0.8718,0.7704,0.82,0.90,0.78,,0.704266(N),1.000(P),1.79(T),0.0000(T),0.093,-1.060934,5.62,2.03,-0.256000,0.169000,0.059000,0.003000,0.006000,0.025000,4.6716
synonymous_variant,C17orf47,SILENT,NM_001038704.2:p.Ser63Ser/c.189A>G,tcA/tcG,LOW,,0.910343,0.999,rs6503867,,,,,,chr17,56621359,56621359,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser63Ser/c.189A>G|570|C17orf47|protein_coding|CODING|NM_001038704.2|1|1),intron_variant(MODIFIER|||n.400+400T>C||LOC101927688||NON_CODING|NR_110810.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9151,0.8718,0.7714,0.84,0.94,0.78,,,,,,,,,,,,,,,,
synonymous_variant,TEX14,SILENT,NM_001201457.1:p.Glu1455Glu/c.4365A>G,gaA/gaG,LOW,COSM1178444(1),0.896965,1,rs7225128,,,,,,chr17,56636854,56636854,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1455Glu/c.4365A>G|1497|TEX14|protein_coding|CODING|NM_001201457.1|31|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1409Glu/c.4227A>G|1451|TEX14|protein_coding|CODING|NM_031272.4|30|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1449Glu/c.4347A>G|1491|TEX14|protein_coding|CODING|NM_198393.3|31|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9151,0.8718,0.7734,0.82,0.90,0.79,,,,,,,,,,,,,,,,
synonymous_variant,SMG8,SILENT,NM_018149.6:p.Ala14Ala/c.42A>G,gcA/gcG,LOW,COSM3932680(2),0.664137,0.4415,rs6503905,,,,,,chr17,57287454,57287454,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala14Ala/c.42A>G|991|SMG8|protein_coding|CODING|NM_018149.6|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:TFIIIC-110,IMR90:H4K5ac,HUVEC:H3K9ac,CD4:H4K8ac,GM12878:SIX5,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,H1ESC:Gabp,HMEC:H3K27ac,CD4:H3K27ac,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZZZ3,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:Tr4,K562:Cmyc,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,HepG2:H3K9ac,CD4:PolII,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,K562:BCLAF1,IMR90:H3K4me3,K562:DNase1,IMR90:H4K8ac",Circulating_myeloperoxidase_levels_plasma,,,0.6247,0.5562,0.6183,0.72,0.89,0.63,,,,,,,,,,,,,,,,
missense_variant,TUBD1,MISSENSE,NM_016261.3:p.Met76Thr/c.227T>C,aTg/aCg,MODERATE,COSM148311(2),0.48123,0.5754,rs1292053,0.65(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.095(N),-0.9262(T),,chr17,57963537,57963537,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met76Thr/c.227T>C|398|TUBD1|protein_coding|CODING|NM_001193609.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met76Thr/c.227T>C|396|TUBD1|protein_coding|CODING|NM_001193610.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met76Thr/c.227T>C|351|TUBD1|protein_coding|CODING|NM_001193611.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met76Thr/c.227T>C|453|TUBD1|protein_coding|CODING|NM_016261.3|3|1),5_prime_UTR_variant(MODIFIER||5103|c.-227T>C|279|TUBD1|protein_coding|CODING|NM_001193612.1|3|1),intron_variant(MODIFIER|||c.-112+6521T>C|237|TUBD1|protein_coding|CODING|NM_001193613.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Inflammatory_bowel_disease,,,0.4121,0.4597,0.4175,0.45,0.48,0.44,,0.000019(N),0.000(P),"-0.47,-0.47,-0.47,-0.47(T,T,T,T)",0.0000(T),0.082,-0.354555,6.08,4.1,-0.119000,0.476000,4.164000,0.931000,0.705000,1.000000,11.3011
synonymous_variant,RNFT1,SILENT,NM_016125.3:p.Ile389Ile/c.1167T>C,atT/atC,LOW,,0.579273,0.5764,rs11368,,,,,,chr17,58031412,58031412,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile389Ile/c.1167T>C|435|RNFT1|protein_coding|CODING|NM_016125.3|8|1),"NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.3967,0.5,0.4195,0.55,0.80,0.44,,,,,,,,,,,,,,,,
missense_variant,HEATR6,MISSENSE,NM_022070.4:p.Ser1006Leu/c.3017C>T,tCg/tTg,MODERATE,COSM3736168(1),0.0954473,0.0625,rs16943991,0.2(T),"0.026,0.002(B,B)",0.93(L),-1.0542(T),,chr17,58121453,58121453,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser1006Leu/c.3017C>T|1181|HEATR6|protein_coding|CODING|NM_022070.4|20|1),upstream_gene_variant(MODIFIER||987|||MIR4737||NON_CODING|NR_039890.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0348,0.0706,0.0716,0.10,0.17,0.07,,0.037539(N),1.000(P),1.56(T),0.0001(T),0.096,0.960615,5.15,4.19,0.650000,1.321000,4.156000,0.922000,0.140000,0.931000,12.9139
missense_variant,HEATR6,MISSENSE,NM_022070.4:p.Ala71Val/c.212C>T,gCc/gTc,MODERATE,COSM4130460(1),0.0924521,0.0585,rs3744376,0.18(T),0.038(B),1.39(L),-1.0802(T),,chr17,58156064,58156064,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala71Val/c.212C>T|1181|HEATR6|protein_coding|CODING|NM_022070.4|1|1),"NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K56ac,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,K562:Gabp,HeLa-S3:Tr4,K562:Cmyc,HUVEC:Cmyc,HMEC:CTCF,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.0317,0.0576,0.0626,0.08,0.14,0.05,,0.053686(N),0.998(P),0.85(T),0.0002(T),0.225,2.377027,4.71,2.57,0.650000,0.592000,0.973000,0.132000,0.997000,0.950000,10.1088
missense_variant,BCAS3,MISSENSE,NM_001099432.1:p.Asn87Ser/c.260A>G,aAt/aGt,MODERATE,,0.748802,0.8958,rs2643103,0.86(T),"0.054,0.004,0.005(B,B,B)",1.5(L),-0.9057(T),,chr17,58786625,58786625,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn87Ser/c.260A>G|928|BCAS3|protein_coding|CODING|NM_001099432.1|5|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn87Ser/c.260A>G|913|BCAS3|protein_coding|CODING|NM_017679.3|5|1)","HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9387,0.9366,0.993,0.81,0.40,0.99,,0.000049(N),0.000(P),"3.44,3.44,3.44(T,T,T)",0.0000(T),0.126,2.057270,5.83,4.76,0.482000,1.040000,2.655000,0.996000,1.000000,1.000000,11.302
synonymous_variant,BCAS3,SILENT,NM_001099432.1:p.Gly110Gly/c.330T>C,ggT/ggC,LOW,,0.993411,1,rs7501675,,,,,,chr17,58824567,58824567,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly110Gly/c.330T>C|928|BCAS3|protein_coding|CODING|NM_001099432.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly110Gly/c.330T>C|913|BCAS3|protein_coding|CODING|NM_017679.3|6|1)",,,,,1,0.9971,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TBX2,SILENT,NM_005994.3:p.Ser609Ser/c.1827C>T,agC/agT,LOW,COSM4130466(1),0.424321,0.369,rs1057987,,,,,,chr17,59485555,59485555,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser609Ser/c.1827C>T|712|TBX2|protein_coding|CODING|NM_005994.3|7|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4734,0.4236,0.7276,0.58,0.29,0.72,,,,,,,,,,,,,,,,
missense_variant,C17orf82,MISSENSE,NM_203425.1:p.Leu186Pro/c.557T>C,cTc/cCc,MODERATE,COSM1479817(9),0.723442,0.7004,rs9907379,0.17(T),0.0(B),0(N),-1.0255(T),,chr17,59489893,59489893,T,C,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu186Pro/c.557T>C|251|C17orf82|protein_coding|CODING|NM_203425.1|1|1),"NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:HDAC2,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HMEC:CTCF,K562:E2F6,IMR90:H3K27ac,NHEK:H3K27me3,NH-A:CTCF,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.6431,0.6571,0.8002,0.80,0.80,0.79,,,0.976(P),0.35(T),0.0000(T),0.095,0.977736,4.29,0.931,-0.380000,-0.103000,0.032000,0.106000,0.119000,0.009000,1.8756
missense_variant,TBX4,MISSENSE,NM_018488.2:p.Ala314Val/c.941C>T,gCg/gTg,MODERATE,COSM3755736(1),0.213259,0.1111,rs3744438,,"0.198,0.041(B,B)",1.1(L),-1.0140(T),,chr17,59557600,59557600,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala314Val/c.941C>T|545|TBX4|protein_coding|CODING|NM_018488.2|7|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.1626,0.134,0.1213,0.22,0.41,0.12,,0.010974(N),0.999(P),"-1.5,-1.5(D,D)",0.0000(T),0.08,2.496648,5.84,5.84,0.655000,2.779000,4.496000,0.022000,0.011000,0.289000,19.1261
synonymous_variant,TBX4,SILENT,NM_018488.2:p.Asp408Asp/c.1224C>T,gaC/gaT,LOW,COSM1384986(2),0.115615,0.1151,rs7218485,,,,,,chr17,59560463,59560463,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp408Asp/c.1224C>T|545|TBX4|protein_coding|CODING|NM_018488.2|8|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.1636,0.0764,0.0994,0.11,0.11,0.10,,,,,,,,,,,,,,,,
missense_variant,NACA2,MISSENSE,NM_199290.3:p.Val9Phe/c.25G>T,Gtc/Ttc,MODERATE,,0.00938498,0.001,rs61748812,,0.002(B),1.87(L),-1.0193(T),,chr17,59668517,59668517,C,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val9Phe/c.25G>T|215|NACA2|protein_coding|CODING|NM_199290.3|1|1),"GM12878:H3K36me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,K562:Yy1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0133,0.0144,0.0229,0.02,0.01,0.03,,0.000103(U),0.933(D),0.79(T),0.0408(T),0.168,2.001431,0.753,0.753,0.411000,0.702000,2.662000,0.139000,0.943000,1.000000,.
synonymous_variant,BRIP1,SILENT,NM_032043.2:p.Tyr1137Tyr/c.3411T>C,taT/taC,LOW,,0.620807,0.754,rs4986763,,,,,,chr17,59760996,59760996,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1137Tyr/c.3411T>C|1249|BRIP1|protein_coding|CODING|NM_032043.2|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.408,0.7305,0.5616,0.61,0.64,0.59,,,,,,,,,,,,,,,,
missense_variant,BRIP1,MISSENSE,NM_032043.2:p.Ser919Pro/c.2755T>C,Tca/Cca,MODERATE,,0.627796,0.755,rs4986764,,0.0(B),,-0.9367(T),,chr17,59763347,59763347,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser919Pro/c.2755T>C|1249|BRIP1|protein_coding|CODING|NM_032043.2|19|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.409,0.7363,0.5616,0.61,0.66,0.59,,0.053329(N),1.000(P),-0.86(T),0.0000(T),0.026,0.059004,5.81,0.71,-0.802000,0.011000,0.136000,0.001000,0.000000,0.001000,5.6501
synonymous_variant,BRIP1,SILENT,NM_032043.2:p.Glu879Glu/c.2637A>G,gaA/gaG,LOW,COSM437064(1),0.815096,0.9127,rs386596996,,,,,,chr17,59763465,59763465,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu879Glu/c.2637A>G|1249|BRIP1|protein_coding|CODING|NM_032043.2|19|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3",,,,0.7014,0.8285,0.6531,0.73,0.89,0.66,,,,,,,,,,,,,,,,
missense_variant,BRIP1,MISSENSE,NM_032043.2:p.Leu195Pro/c.584T>C,cTc/cCc,MODERATE,,0.000798722,0,rs4988347,,0.001(B),-0.3(N),-0.9191(T),,chr17,59924505,59924505,A,G,het,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu195Pro/c.584T>C|1249|BRIP1|protein_coding|CODING|NM_032043.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.002,0.0014,0.001,0.00,0.00,0.00,,0.264300(N),1.000(D),-0.94(T),0.1553(T),0.098,-0.838418,5.26,-0.0114,-0.689000,0.088000,0.326000,0.003000,0.936000,0.392000,4.1812
missense_variant,INTS2,MISSENSE,NM_020748.2:p.Asn768His/c.2302A>C,Aac/Cac,MODERATE,,0.997005,1,rs606072,,0.0(B),-0.69(N),-1.0114(T),,chr17,59955426,59955426,T,G,hom,"missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn768His/c.2302A>C|1204|INTS2|protein_coding|CODING|NM_020748.2|18|1),non_coding_exon_variant(MODIFIER|||n.2659A>C||INTS2||CODING|NR_026641.1|18|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,0.000770(N),1.000(P),1.0(T),0.0000(T),0.088,0.295327,5.56,1.33,-0.752000,-0.162000,1.138000,0.847000,0.991000,1.000000,6.2131
synonymous_variant,MED13,SILENT,NM_005121.2:p.Asp1440Asp/c.4320C>T,gaC/gaT,LOW,,0.996206,1,rs671347,,,,,,chr17,60043884,60043884,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1440Asp/c.4320C>T|2174|MED13|protein_coding|CODING|NM_005121.2|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,METTL2A,SILENT,NM_181725.3:p.Ser145Ser/c.435A>G,tcA/tcG,LOW,,0.932708,0.999,rs2543409,,,,,,chr17,60503892,60503892,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser145Ser/c.435A>G|378|METTL2A|protein_coding|CODING|NM_181725.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9798,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,TLK2,SILENT,NM_001284333.1:p.Pro646Pro/c.1938A>G,ccA/ccG,LOW,,0.526358,0.8135,rs8078132,,,,,,chr17,60683503,60683503,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro646Pro/c.1938A>G|772|TLK2|protein_coding|CODING|NM_001284333.1|21|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro592Pro/c.1776A>G|718|TLK2|protein_coding|CODING|NM_001284363.1|18|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro624Pro/c.1872A>G|750|TLK2|protein_coding|CODING|NM_006852.3|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6196,0.5086,0.6153,0.49,0.26,0.61,,,,,,,,,,,,,,,,
missense_variant,MRC2,MISSENSE,NM_006039.4:p.Val43Ile/c.127G>A,Gtc/Atc,MODERATE,COSM3755739(1),0.0830671,0.0437,rs2014055,0.58(T),0.002(B),0.9(L),-1.0037(T),,chr17,60741917,60741917,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val43Ile/c.127G>A|1479|MRC2|protein_coding|CODING|NM_006039.4|2|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.1094,0.098,0.1839,0.13,0.04,0.17,,0.005677(N),0.000(P),1.6(T),0.0001(T),0.019,0.012468,4.7,2.71,0.561000,0.603000,2.991000,0.990000,0.724000,0.999000,8.395
synonymous_variant,MRC2,SILENT,NM_006039.4:p.Ser862Ser/c.2586G>C,tcG/tcC,LOW,,0.847444,0.9286,rs2245463,,,,,,chr17,60758273,60758273,G,C,hom,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser862Ser/c.2586G>C|1479|MRC2|protein_coding|CODING|NM_006039.4|17|1),"H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HeLa-S3:CTCF,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,HeLa-S3:E2F6",,,,0.8354,0.9597,0.9801,0.89,0.71,0.98,,,,,,,,,,,,,,,,
synonymous_variant,MRC2,SILENT,NM_006039.4:p.Ala1079Ala/c.3237A>G,gcA/gcG,LOW,COSM4130474(1),0.877796,0.9375,rs2465430,0.82(T),0.0(B),,-1.0136(T),,chr17,60766224,60766224,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1079Ala/c.3237A>G|1479|MRC2|protein_coding|CODING|NM_006039.4|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8569,0.9683,0.9861,0.92,0.79,0.99,,,0.008(P),4.05(T),0.0000(T),.,-0.567093,4.46,-1.93,-2.896000,-0.680000,-2.402000,0.005000,0.372000,0.000000,2.2935
synonymous_variant,MRC2,SILENT,NM_006039.4:p.Asp1094Asp/c.3282C>T,gaC/gaT,LOW,COSM1318466(2),0.0129792,0.001,rs77011456,0.02(D),0.0(B),,-1.0302(T),,chr17,60766269,60766269,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1094Asp/c.3282C>T|1479|MRC2|protein_coding|CODING|NM_006039.4|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0174,0.0159,0.0318,0.02,0.01,0.03,,,1.000(D),3.89(T),0.0037(T),.,2.353836,4.59,-4.0,-1.986000,-1.052000,-3.003000,0.859000,0.788000,0.000000,11.6258
missense_variant,MRC2,MISSENSE,NM_006039.4:p.Arg1156His/c.3467G>A,cGc/cAc,MODERATE,COSM3755740(1),0.798722,0.9435,rs2429387,0.58(T),0.004(B),0.69(N),-0.9979(T),,chr17,60767015,60767015,G,A,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1156His/c.3467G>A|1479|MRC2|protein_coding|CODING|NM_006039.4|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8466,0.951,0.9791,0.84,0.55,0.98,,0.036182(N),0.000(P),0.57(T),0.0000(T),0.078,0.713525,4.8,-1.07,0.561000,0.050000,0.992000,0.817000,0.597000,0.993000,5.4768
splice_donor_variant,MARCH10,protein_coding,NM_001288779.1:c.497T>C,,HIGH,,0.151158,0.0615,rs17746153,,,,,MARCH10:0.25(4);,chr17,60824224,60824224,A,G,hom,"splice_donor_variant(HIGH|||c.497T>C|846|MARCH10|protein_coding|CODING|NM_001288779.1|5|1),intron_variant(MODIFIER|||n.21+25316A>G||MIR548W||NON_CODING|NR_036146.1|2|1),intron_variant(MODIFIER|||c.383-2338T>C|799|MARCH10|protein_coding|CODING|NM_001288780.1|5|1),intron_variant(MODIFIER|||c.496+2T>C|846|MARCH10|protein_coding|CODING|NM_001288779.1|5|1),intron_variant(MODIFIER|||c.383-2335T>C|808|MARCH10|protein_coding|CODING|NM_001100875.2|4|1),intron_variant(MODIFIER|||c.383-2335T>C|808|MARCH10|protein_coding|CODING|NM_152598.3|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2444,0.1801,0.2932,,,,,,,,,,,,,,,,,,,
synonymous_variant,TANC2,SILENT,NM_025185.3:p.Gln215Gln/c.645G>A,caG/caA,LOW,COSM330351(1),0.534545,0.1667,rs2460111,,,,,,chr17,61315272,61315272,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln215Gln/c.645G>A|1990|TANC2|protein_coding|CODING|NM_025185.3|6|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4632,0.4827,0.4911,0.62,0.86,0.51,,,,,,,,,,,,,,,,
synonymous_variant,TANC2,SILENT,NM_025185.3:p.Leu1086Leu/c.3256T>C,Tta/Cta,LOW,,0.0091853,0,rs61737624,,,,,,chr17,61483527,61483527,T,C,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1086Leu/c.3256T>C|1990|TANC2|protein_coding|CODING|NM_025185.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,0.002,0.013,0.0338,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ACE,SILENT,NM_000789.3:p.Asn194Asn/c.582C>T,aaC/aaT,LOW,COSM4130477(1),0.144369,0.0099,rs4298,,,,,,chr17,61557200,61557200,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn194Asn/c.582C>T|1306|ACE|protein_coding|CODING|NM_000789.3|4|1),"GM12878:H3K27me3,HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0399,0.0807,0.0835,0.16,0.34,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ACE,SILENT,NM_000789.3:p.Glu1302Glu/c.3906G>A,gaG/gaA,LOW,,0.0117812,0,rs4365,,,,,,chr17,61574712,61574712,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1302Glu/c.3906G>A|1306|ACE|protein_coding|CODING|NM_000789.3|25|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu687Glu/c.2061G>A|691|ACE|protein_coding|CODING|NM_001178057.1|13|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu728Glu/c.2184G>A|732|ACE|protein_coding|CODING|NM_152830.2|14|1)","HUVEC:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0143,0.013,0.0328,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,KCNH6,SILENT,NM_030779.3:p.His160His/c.480T>C,caT/caC,LOW,COSM3755744(2),0.28734,0.2252,rs7221517,,,,,,chr17,61607708,61607708,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His160His/c.480T>C|958|KCNH6|protein_coding|CODING|NM_001278919.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His37His/c.111T>C|835|KCNH6|protein_coding|CODING|NM_001278920.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His160His/c.480T>C|994|KCNH6|protein_coding|CODING|NM_030779.3|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His160His/c.480T>C|905|KCNH6|protein_coding|CODING|NM_173092.2|4|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2607,0.3141,0.3797,0.34,0.30,0.35,,,,,,,,,,,,,,,,
synonymous_variant,KCNH6,SILENT,NM_030779.3:p.Asp284Asp/c.852T>C,gaT/gaC,LOW,,0.447484,0.2599,rs386608519,,,,,,chr17,61611423,61611423,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp284Asp/c.852T>C|958|KCNH6|protein_coding|CODING|NM_001278919.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp161Asp/c.483T>C|835|KCNH6|protein_coding|CODING|NM_001278920.1|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp284Asp/c.852T>C|994|KCNH6|protein_coding|CODING|NM_030779.3|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp284Asp/c.852T>C|905|KCNH6|protein_coding|CODING|NM_173092.2|5|1)","GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3824,0.4251,0.6064,0.57,0.53,0.59,,,,,,,,,,,,,,,,
synonymous_variant,KCNH6,SILENT,NM_030779.3:p.Ala672Ala/c.2016A>G,gcA/gcG,LOW,,0.00559105,0,rs41280098,,,,,,chr17,61619663,61619663,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala672Ala/c.2016A>G|958|KCNH6|protein_coding|CODING|NM_001278919.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala549Ala/c.1647A>G|835|KCNH6|protein_coding|CODING|NM_001278920.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala672Ala/c.2016A>G|994|KCNH6|protein_coding|CODING|NM_030779.3|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala619Ala/c.1857A>G|905|KCNH6|protein_coding|CODING|NM_173092.2|10|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0086,0.0209,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,KCNH6,MISSENSE,NM_030779.3:p.Thr925Met/c.2774C>T,aCg/aTg,MODERATE,COSM3755745(2),0.139976,0.0367,rs35819807,0.28(T),"0.003,0.004,0.002(B,B,B)",0.41(N),-0.3939(T),,chr17,61623052,61623052,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr836Met/c.2507C>T|905|KCNH6|protein_coding|CODING|NM_173092.2|14|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr889Met/c.2666C>T|958|KCNH6|protein_coding|CODING|NM_001278919.1|13|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr766Met/c.2297C>T|835|KCNH6|protein_coding|CODING|NM_001278920.1|13|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr925Met/c.2774C>T|994|KCNH6|protein_coding|CODING|NM_030779.3|14|1)",HepG2:H3K27me3,,,,0.1288,0.1052,0.2485,0.22,0.16,0.25,,0.426110(N),1.000(P),-5.58(D),0.0011(T),0.032,1.056938,5.02,-7.62,-1.092000,-1.025000,0.188000,0.002000,0.000000,0.000000,6.9583
missense_variant,FTSJ3,MISSENSE,NM_017647.3:p.Ser424Cys/c.1270A>T,Agc/Tgc,MODERATE,COSM4000251(2),0.726438,0.5556,rs2727288,0.01(D),0.215(B),0.345(N),-1.0319(T),,chr17,61901197,61901197,T,A,hom,missense_variant(MODERATE|MISSENSE|Agc/Tgc|p.Ser424Cys/c.1270A>T|847|FTSJ3|protein_coding|CODING|NM_017647.3|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7566,0.6787,0.5984,0.70,0.89,0.61,,0.001907(N),1.000(P),1.42(T),0.0000(T),0.141,0.477083,5.65,4.68,-0.121000,0.948000,0.028000,0.950000,0.934000,0.000000,8.945
missense_variant,FTSJ3,MISSENSE,NM_017647.3:p.Gln91Glu/c.271C>G,Cag/Gag,MODERATE,COSM4000253(1),0.732827,0.5556,rs2584625,1(T),0.0(B),-1.78(N),-0.9548(T),,chr17,61903445,61903445,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln91Glu/c.271C>G|847|FTSJ3|protein_coding|CODING|NM_017647.3|5|1),upstream_gene_variant(MODIFIER||1325||406|PSMC5|protein_coding|CODING|NM_002805.5||1),upstream_gene_variant(MODIFIER||1599||398|PSMC5|protein_coding|CODING|NM_001199163.1||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.7566,0.6816,0.5984,0.71,0.91,0.61,,0.000000(N),1.000(P),1.61(T),0.0000(T),0.184,2.818139,4.74,4.74,-0.216000,1.367000,5.111000,0.958000,1.000000,1.000000,13.1779
synonymous_variant,PSMC5,SILENT,NM_002805.5:p.Leu219Leu/c.655C>T,Ctg/Ttg,LOW,,0.732628,0.5556,rs41414452,,,,,,chr17,61908271,61908271,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu211Leu/c.631C>T|398|PSMC5|protein_coding|CODING|NM_001199163.1|7|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu219Leu/c.655C>T|406|PSMC5|protein_coding|CODING|NM_002805.5|7|1),downstream_gene_variant(MODIFIER||1170||531|SMARCD2|protein_coding|CODING|NM_001098426.1||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7566,0.6816,0.5984,0.71,0.91,0.61,,,,,,,,,,,,,,,,
synonymous_variant,PSMC5,SILENT,NM_002805.5:p.Leu280Leu/c.840C>T,ctC/ctT,LOW,COSM3755748(1),0.396565,0.505,rs13030,,,,,,chr17,61908556,61908556,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu272Leu/c.816C>T|398|PSMC5|protein_coding|CODING|NM_001199163.1|8|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu280Leu/c.840C>T|406|PSMC5|protein_coding|CODING|NM_002805.5|8|1),downstream_gene_variant(MODIFIER||885||531|SMARCD2|protein_coding|CODING|NM_001098426.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6022,0.4467,0.327,0.28,0.21,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CD79B,SILENT,NM_001039933.1:p.Cys123Cys/c.369T>C,tgT/tgC,LOW,COSM148316(1),0.561701,0.4881,rs2070776,,,,,,chr17,62007498,62007498,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys122Cys/c.366T>C|229|CD79B|protein_coding|CODING|NM_000626.2|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys123Cys/c.369T>C|230|CD79B|protein_coding|CODING|NM_001039933.1|3|1),intron_variant(MODIFIER|||c.119-250T>C|125|CD79B|protein_coding|CODING|NM_021602.2|2|1)","GM12878:H3K4me3,GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",Height,,,0.4151,0.4841,0.6531,0.66,0.67,0.65,,,,,,,,,,,,,,,,
synonymous_variant,SCN4A,SILENT,NM_000334.4:p.Ile1513Ile/c.4539C>A,atC/atA,LOW,COSM148317(2),0.140176,0.1062,rs56342400,,,,,,chr17,62019103,62019103,G,T,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile1513Ile/c.4539C>A|1836|SCN4A|protein_coding|CODING|NM_000334.4|24|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000078661.2,,0.1207,0.1254,0.1968,0.17,0.13,0.20,,,,,,,,,,,,,,,,
missense_variant,SCN4A,MISSENSE,NM_000334.4:p.Asn1376Asp/c.4126A>G,Aac/Gac,MODERATE,COSM148318(3),0.561502,0.5377,rs2058194,1(T),0.0(B),-2.445(N),-0.9143(T),,chr17,62020348,62020348,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn1376Asp/c.4126A>G|1836|SCN4A|protein_coding|CODING|NM_000334.4|23|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000118272.1,,0.3569,0.4697,0.5557,0.60,0.73,0.53,,0.000000(N),1.000(P),-4.34(D),0.0000(T),0.052,0.824528,3.87,3.87,-0.355000,0.993000,4.799000,0.969000,0.988000,1.000000,11.0601
missense_variant,SCN4A,MISSENSE,NM_000334.4:p.Ser524Gly/c.1570A>G,Agc/Ggc,MODERATE,COSM4130494(1),0.944289,1,rs6504191,0.46(T),0.0(B),0.895(L),-0.9337(T),,chr17,62041068,62041068,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser524Gly/c.1570A>G|1836|SCN4A|protein_coding|CODING|NM_000334.4|10|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000118264.1,,0.9724,0.9553,0.9115,0.92,0.91,0.92,,0.491942(N),1.000(P),-3.91(D),0.0000(T),0.057,-0.912228,3.93,1.63,-2.026000,-0.067000,1.343000,0.004000,0.856000,1.000000,7.1256
missense_variant,PRR29,MISSENSE,NM_001191029.1:p.Thr24Ser/c.71C>G,aCc/aGc,MODERATE,COSM4130497(1),0.253395,0.2351,rs62070903,0.55(T),"0.841,0.732(P,P)",2.015(M),-1.0065(T),,chr17,62076077,62076077,C,G,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr24Ser/c.71C>G|189|PRR29|protein_coding|CODING|NM_001164257.1|2|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr24Ser/c.71C>G|236|PRR29|protein_coding|CODING|NM_001191029.1|2|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr24Ser/c.71C>G|98|PRR29|protein_coding|CODING|NM_001191031.1|2|1),intron_variant(MODIFIER|||c.61-11C>G|182|PRR29|protein_coding|CODING|NM_001191030.1|1|1)","K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,GM12878:Sin3Ak20",,,,0.2464,0.3156,0.329,,,,,,0.000(P),"0.49,0.66(T,T)",0.0000(T),0.411,1.779948,4.01,4.01,0.448000,2.062000,3.602000,0.133000,0.996000,0.980000,11.5057
stop_retained_variant,PRR29,SILENT,NM_001191029.1:p.Ter237Ter/c.710A>G,tAa/tGa,LOW,,0.248203,0.251,rs11079520,,,,,,chr17,62079334,62079334,A,G,hom,"stop_retained_variant(LOW|SILENT|tAa/tGa|p.Ter237Ter/c.710A>G|236|PRR29|protein_coding|CODING|NM_001191029.1|5|1),3_prime_UTR_variant(MODIFIER||454|c.*259A>G|98|PRR29|protein_coding|CODING|NM_001191031.1|5|1),3_prime_UTR_variant(MODIFIER||213|c.*213A>G|189|PRR29|protein_coding|CODING|NM_001164257.1|6|1),3_prime_UTR_variant(MODIFIER||213|c.*213A>G|182|PRR29|protein_coding|CODING|NM_001191030.1|6|1),downstream_gene_variant(MODIFIER||621||275|ICAM2|protein_coding|CODING|NM_000873.3||1),downstream_gene_variant(MODIFIER||621||275|ICAM2|protein_coding|CODING|NM_001099786.1||1),downstream_gene_variant(MODIFIER||621||275|ICAM2|protein_coding|CODING|NM_001099787.1||1),downstream_gene_variant(MODIFIER||621||275|ICAM2|protein_coding|CODING|NM_001099788.1||1),downstream_gene_variant(MODIFIER||621||275|ICAM2|protein_coding|CODING|NM_001099789.1||1)","K562:PolII,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.229,0.438,0.4056,,,,,,,,,,,,,,,,,,,
synonymous_variant,ERN1,SILENT,NM_001433.3:p.Thr934Thr/c.2802A>G,acA/acG,LOW,,0.581869,0.6806,rs196912,,,,,,chr17,62121480,62121480,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr934Thr/c.2802A>G|977|ERN1|protein_coding|CODING|NM_001433.3|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7822,0.6009,0.7515,0.62,0.32,0.76,,,,,,,,,,,,,,,,
synonymous_variant,ERN1,SILENT,NM_001433.3:p.His825His/c.2475T>C,caT/caC,LOW,,0.951478,1,rs196923,,,,,,chr17,62125272,62125272,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His825His/c.2475T>C|977|ERN1|protein_coding|CODING|NM_001433.3|19|1),"GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9813,0.998,0.96,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ERN1,SILENT,NM_001433.3:p.Ile326Ile/c.978T>C,atT/atC,LOW,COSM4130500(1),0.952077,1,rs187826,,,,,,chr17,62141455,62141455,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile326Ile/c.978T>C|977|ERN1|protein_coding|CODING|NM_001433.3|10|1),"NHEK:CTCF,CD4:DNase1,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,IMR90:H3K36me3,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,1,0.9827,0.998,0.96,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ERN1,SILENT,NM_001433.3:p.Val104Val/c.312G>A,gtG/gtA,LOW,,0.0263578,0.003,rs75995183,,,,,,chr17,62152578,62152578,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val104Val/c.312G>A|977|ERN1|protein_coding|CODING|NM_001433.3|5|1),"HeLa-S3:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:DNase1,HMEC:DNase1,GM06990:H3K36me3",,,,0.0317,0.0418,0.0616,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,AXIN2,SILENT,NM_004655.3:p.Pro462Pro/c.1386C>T,ccC/ccT,LOW,COSM3749411(7),0.446086,0.3472,rs1133683,,,,,,chr17,63533768,63533768,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro462Pro/c.1386C>T|843|AXIN2|protein_coding|CODING|NM_004655.3|6|1),"H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.6022,0.5692,0.6163,0.54,0.31,0.66,,,,,,,,,,,,,,,,
synonymous_variant,AXIN2,SILENT,NM_004655.3:p.Pro455Pro/c.1365A>G,ccA/ccG,LOW,COSM3755754(1),0.909744,0.8264,rs9915936,,,,,,chr17,63533789,63533789,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro455Pro/c.1365A>G|843|AXIN2|protein_coding|CODING|NM_004655.3|6|1),"H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.9673,0.8977,0.9066,0.91,0.94,0.90,,,,,,,,,,,,,,,,
missense_variant,AXIN2,MISSENSE,NM_004655.3:p.Pro50Ser/c.148C>T,Cct/Tct,MODERATE,COSM4000258(1),0.33766,0.3234,rs2240308,0.96(T),0.0(B),,-0.9746(T),,chr17,63554591,63554591,G,A,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro50Ser/c.148C>T|843|AXIN2|protein_coding|CODING|NM_004655.3|2|1),"H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,CD4:H4K20me1,H1ESC:H3K4me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:H3K79me2,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.456,0.5159,0.4702,0.39,0.14,0.53,,0.208652(N),0.001(P),"-0.05,-1.03,-0.04(T,T,T)",0.0000(T),0.044,-0.675392,4.74,2.75,0.561000,0.980000,0.923000,0.020000,0.834000,0.999000,7.627
missense_variant,CEP112,MISSENSE,NM_001037325.2:p.Ile21Val/c.61A>G,Ata/Gta,MODERATE,COSM3755755(1),0.214457,0.125,rs62065084,0.36(T),0.001(B),,-0.9886(T),,chr17,63822357,63822357,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile21Val/c.61A>G|211|CEP112|protein_coding|CODING|NM_001037325.2|1|1),intron_variant(MODIFIER|||c.2394+25565A>G|955|CEP112|protein_coding|CODING|NM_001199165.1|21|1),intron_variant(MODIFIER|||c.2394+25565A>G|955|CEP112|protein_coding|CODING|NM_145036.3|21|1)",HSMM:H3K36me3,,,,0.2618,0.2262,0.2207,0.24,0.24,0.24,,,1.000(P),,0.0000(T),0.014,0.890231,3.01,-0.831,0.454000,-0.210000,-0.252000,0.026000,0.000000,0.000000,4.3253
missense_variant,CEP112,MISSENSE,NM_001199165.1:p.Lys551Glu/c.1651A>G,Aaa/Gaa,MODERATE,,0.38099,0.0913,rs17704679,0.57(T),"0.007,0.007(B,B)",1.21(L),-0.9631(T),,chr17,64023624,64023624,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys551Glu/c.1651A>G|955|CEP112|protein_coding|CODING|NM_001199165.1|16|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys551Glu/c.1651A>G|955|CEP112|protein_coding|CODING|NM_145036.3|16|1)",HSMM:H3K36me3,,,,0.2822,0.317,0.5249,0.57,0.59,0.56,,0.002050(N),0.000(P),"2.07,2.07,2.07,2.07(T,T,T,T)",0.0000(T),0.258,3.491676,5.51,3.27,0.528000,0.877000,3.243000,0.996000,0.982000,0.998000,9.033
synonymous_variant,CEP112,SILENT,NM_001199165.1:p.Leu545Leu/c.1633T>C,Tta/Cta,LOW,,0.536342,0.873,rs11079628,,,,,,chr17,64023642,64023642,A,G,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu545Leu/c.1633T>C|955|CEP112|protein_coding|CODING|NM_001199165.1|16|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu545Leu/c.1633T>C|955|CEP112|protein_coding|CODING|NM_145036.3|16|1)",HSMM:H3K36me3,,,,0.6135,0.6585,0.4384,0.34,0.25,0.39,,,,,,,,,,,,,,,,
synonymous_variant,CEP112,SILENT,NM_001199165.1:p.Asn471Asn/c.1413T>C,aaT/aaC,LOW,,0.380791,0.0903,rs11652766,,,,,,chr17,64025331,64025331,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn471Asn/c.1413T>C|955|CEP112|protein_coding|CODING|NM_001199165.1|14|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn471Asn/c.1413T>C|955|CEP112|protein_coding|CODING|NM_145036.3|14|1)",HSMM:H3K36me3,,,,0.2832,0.317,0.5249,0.56,0.58,0.55,,,,,,,,,,,,,,,,
missense_variant,APOH,MISSENSE,NM_000042.2:p.Val266Leu/c.796G>T,Gta/Tta,MODERATE,,0.541534,0.754,rs386580499,0.78(T),0.001(B),-0.2(N),-0.9917(T),,chr17,64210757,64210757,C,A,het,missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val266Leu/c.796G>T|345|APOH|protein_coding|CODING|NM_000042.2|7|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,RCV000017417.1,,0.635,0.5403,0.2316,0.33,0.51,0.24,,0.015772(N),1.000(P),1.65(T),0.0000(T),0.033,0.319109,5.23,-4.53,-0.274000,-0.422000,-0.386000,0.612000,0.356000,0.307000,2.3666
missense_variant,PRKCA,MISSENSE,NM_002737.2:p.Val568Ile/c.1702G>A,Gtc/Atc,MODERATE,,0.992013,0.999,rs6504459,1(T),0.0(B),-0.01(N),-0.9191(T),,chr17,64783081,64783081,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val568Ile/c.1702G>A|672|PRKCA|protein_coding|CODING|NM_002737.2|15|1),upstream_gene_variant(MODIFIER||109|||MIR634||NON_CODING|NR_030364.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.9949,0.987,0.9751,0.98,0.99,0.97,,0.000000(N),0.997(P),0.57(T),0.0000(T),0.151,1.167063,5.68,5.68,-0.254000,0.977000,7.081000,0.978000,0.998000,1.000000,11.7677
missense_variant,CACNG1,MISSENSE,NM_000727.3:p.Gly196Ser/c.586G>A,Ggt/Agt,MODERATE,,0.0944489,0.0873,rs1799938,0.03(D),0.368(B),2.665(M),-0.9122(T),,chr17,65052304,65052304,G,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly196Ser/c.586G>A|222|CACNG1|protein_coding|CODING|NM_000727.3|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.17,0.1322,0.08,0.02,0.12,,0.000162(N),0.000(P),-0.5(T),0.0030(T),0.278,3.337553,5.0,4.03,0.462000,1.244000,7.606000,0.010000,0.005000,1.000000,12.718
synonymous_variant,HELZ,SILENT,NM_014877.3:p.Arg1556Arg/c.4666A>C,Agg/Cgg,LOW,COSM4130515(1),0.71865,0.881,rs11657929,,,,,,chr17,65104666,65104666,T,G,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg1556Arg/c.4666A>C|1942|HELZ|protein_coding|CODING|NM_014877.3|30|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7464,0.6239,0.5189,0.56,0.72,0.48,,,,,,,,,,,,,,,,
missense_variant,HELZ,MISSENSE,NM_014877.3:p.Ala1530Val/c.4589C>T,gCt/gTt,MODERATE,COSM4130516(1),0.976038,1,rs11653020,0.32(T),0.0(B),0.345(N),-0.9744(T),,chr17,65104743,65104743,G,A,hom,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala1530Val/c.4589C>T|1942|HELZ|protein_coding|CODING|NM_014877.3|30|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9395,0.9304,0.95,0.99,0.93,,0.012352(N),1.000(P),-1.48(T),0.0000(T),0.045,0.284630,5.27,4.19,-0.379000,0.323000,4.767000,0.010000,0.001000,0.998000,9.7752
synonymous_variant,NOL11,SILENT,NM_015462.3:p.Ala656Ala/c.1968A>G,gcA/gcG,LOW,COSM3755767(2),0.48742,0.5069,rs10127,,,,,,chr17,65739627,65739627,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala656Ala/c.1968A>G|719|NOL11|protein_coding|CODING|NM_015462.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.6196,0.5249,0.50,0.41,0.55,,,,,,,,,,,,,,,,
missense_variant,C17orf58,MISSENSE,NM_181655.3:p.Ile92Val/c.274A>G,Att/Gtt,MODERATE,COSM148320(4),0.487021,0.2659,rs9891146,1(T),0.0(B),,-0.9702(T),,chr17,65988049,65988049,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile92Val/c.274A>G|97|C17orf58|protein_coding|CODING|NM_181655.3|3|1),3_prime_UTR_variant(MODIFIER||986|c.*189A>G|75|C17orf58|protein_coding|CODING|NM_181656.4|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5941,0.6455,0.7286,0.62,0.40,0.73,,,1.000(P),1.59(T),0.0000(T),0.015,-0.726655,4.35,-4.59,-0.388000,-1.060000,-0.340000,0.224000,0.000000,0.000000,10.9844
missense_variant,C17orf58,MISSENSE,NM_181656.4:p.Glu72Gly/c.215A>G,gAa/gGa,MODERATE,,0.919928,1,rs28368756,0.12(T),0.0(B),,-1.0698(T),,chr17,65989048,65989048,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu72Gly/c.215A>G|75|C17orf58|protein_coding|CODING|NM_181656.4|2|1),intron_variant(MODIFIER|||c.103+112A>G|97|C17orf58|protein_coding|CODING|NM_181655.3|2|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:H3K9ac,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,1,0.9856,0.998,0.93,0.77,1.00,,0.000003(D),1.000(P),,0.0000(T),0.009,0.758210,2.72,-1.04,-0.263000,-0.544000,-1.323000,0.000000,0.000000,0.000000,3.7646
synonymous_variant,KPNA2,SILENT,NM_002266.2:p.Val267Val/c.801A>G,gtA/gtG,LOW,COSM4000270(3),0.51857,0.2847,rs4638,,,,,,chr17,66039350,66039350,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val267Val/c.801A>G|529|KPNA2|protein_coding|CODING|NM_002266.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.6022,0.6585,0.7276,0.64,0.45,0.74,,,,,,,,,,,,,,,,
missense_variant,AMZ2,MISSENSE,NM_001033569.1:p.Asn30Asp/c.88A>G,Aat/Gat,MODERATE,COSM4000272(2),0.797923,0.7619,rs3213690,1(T),"0.0,0.0(B,B)",-1.95(N),-1.0146(T),,chr17,66246416,66246416,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|360|AMZ2|protein_coding|CODING|NM_001033569.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|360|AMZ2|protein_coding|CODING|NM_001033570.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|360|AMZ2|protein_coding|CODING|NM_001033571.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|360|AMZ2|protein_coding|CODING|NM_001033572.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|302|AMZ2|protein_coding|CODING|NM_001033574.1|2|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|360|AMZ2|protein_coding|CODING|NM_001289054.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|360|AMZ2|protein_coding|CODING|NM_001289056.1|3|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn30Asp/c.88A>G|360|AMZ2|protein_coding|CODING|NM_016627.4|2|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7454,0.8199,0.6431,0.76,0.92,0.67,,0.032215(N),1.000(P),"2.42,2.42,2.42(T,T,T)",0.0000(T),0.071,0.515707,3.58,1.32,-0.665000,0.315000,0.392000,0.701000,0.009000,0.000000,5.3709
synonymous_variant,AMZ2,SILENT,NM_001033569.1:p.Ala356Ala/c.1068T>A,gcT/gcA,LOW,COSM3755768(1),0.370607,0.4762,rs7105,,,,,,chr17,66253095,66253095,T,A,het,"synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala356Ala/c.1068T>A|360|AMZ2|protein_coding|CODING|NM_001033569.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala356Ala/c.1068T>A|360|AMZ2|protein_coding|CODING|NM_001033570.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala356Ala/c.1068T>A|360|AMZ2|protein_coding|CODING|NM_001033571.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala356Ala/c.1068T>A|360|AMZ2|protein_coding|CODING|NM_001033572.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala298Ala/c.894T>A|302|AMZ2|protein_coding|CODING|NM_001033574.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala356Ala/c.1068T>A|360|AMZ2|protein_coding|CODING|NM_001289054.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala356Ala/c.1068T>A|360|AMZ2|protein_coding|CODING|NM_001289056.1|8|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala356Ala/c.1068T>A|360|AMZ2|protein_coding|CODING|NM_016627.4|7|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4182,0.3588,0.3131,0.31,0.29,0.32,,,,,,,,,,,,,,,,
missense_variant,SLC16A6,MISSENSE,NM_001174166.1:p.Glu217Asp/c.651A>C,gaA/gaC,MODERATE,COSM3755770(2),0.160743,0.1319,rs3744307,0.25(T),0.131(B),1.65(L),-1.0547(T),,chr17,66267650,66267650,T,G,het,"missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu217Asp/c.651A>C|523|SLC16A6|protein_coding|CODING|NM_001174166.1|6|1),missense_variant(MODERATE|MISSENSE|gaA/gaC|p.Glu217Asp/c.651A>C|523|SLC16A6|protein_coding|CODING|NM_004694.4|5|1),intron_variant(MODIFIER|||c.-552+12083T>G|525|ARSG|protein_coding|CODING|NM_014960.4|1|1)","GM12878:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1636,0.1254,0.169,0.18,0.17,0.18,,0.000737(N),1.000(P),0.32(T),0.0005(T),0.158,0.779209,4.59,-1.72,0.397000,-0.577000,-1.523000,0.131000,0.001000,0.000000,13.2785
missense_variant,SLC16A6,MISSENSE,NM_001174166.1:p.Phe204Ile/c.610T>A,Ttt/Att,MODERATE,COSM3755771(1),0.379593,0.247,rs7222013,0.24(T),0.0(B),-2.015(N),-1.0719(T),,chr17,66267691,66267691,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe204Ile/c.610T>A|523|SLC16A6|protein_coding|CODING|NM_001174166.1|6|1),missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe204Ile/c.610T>A|523|SLC16A6|protein_coding|CODING|NM_004694.4|5|1),intron_variant(MODIFIER|||c.-552+12124A>T|525|ARSG|protein_coding|CODING|NM_014960.4|1|1)","GM12878:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.3746,0.1928,0.37,0.63,0.23,,0.196264(N),1.000(P),3.77(T),0.0000(T),0.083,-1.881272,4.33,-0.528,-0.514000,-0.690000,-2.006000,0.133000,0.000000,0.000000,6.1866
missense_variant,ARSG,MISSENSE,NM_001267727.1:p.Thr236Ser/c.707C>G,aCc/aGc,MODERATE,COSM3755773(1),0.275958,0.126,rs1558876,0.18(T),0.023(B),0.41(N),-0.9719(T),,chr17,66364691,66364691,C,G,het,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr236Ser/c.707C>G|525|ARSG|protein_coding|CODING|NM_001267727.1|7|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr236Ser/c.707C>G|525|ARSG|protein_coding|CODING|NM_014960.4|7|1),splice_region_variant(LOW|||c.707C>G|525|ARSG|protein_coding|CODING|NM_001267727.1|7|1),splice_region_variant(LOW|||c.707C>G|525|ARSG|protein_coding|CODING|NM_014960.4|7|1)","HeLa-S3:DNase1,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3262,0.3934,0.4076,0.37,0.22,0.44,,0.372438(N),0.994(P),,0.0000(T),0.1,-0.195352,5.26,4.24,0.655000,2.733000,2.123000,0.373000,0.962000,0.184000,12.9999
synonymous_variant,ARSG,SILENT,NM_001267727.1:p.Pro255Pro/c.765T>C,ccT/ccC,LOW,,0.511382,0.2708,rs1558877,,,,,,chr17,66364749,66364749,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro255Pro/c.765T>C|525|ARSG|protein_coding|CODING|NM_001267727.1|7|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro255Pro/c.765T>C|525|ARSG|protein_coding|CODING|NM_014960.4|7|1)","HeLa-S3:DNase1,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4918,0.6167,0.506,0.56,0.64,0.52,,,,,,,,,,,,,,,,
missense_variant,ARSG,MISSENSE,NM_001267727.1:p.Trp274Arg/c.820T>C,Tgg/Cgg,MODERATE,,0.359425,0.2351,rs1558878,0.54(T),0.0(B),-1.645(N),-0.9140(T),,chr17,66364804,66364804,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp274Arg/c.820T>C|525|ARSG|protein_coding|CODING|NM_001267727.1|7|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp274Arg/c.820T>C|525|ARSG|protein_coding|CODING|NM_014960.4|7|1)","HeLa-S3:DNase1,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:Ap2gamma,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3569,0.4424,0.4831,0.45,0.35,0.50,,0.488911(N),1.000(P),,0.0000(T),0.045,-1.427426,5.26,4.28,-0.119000,1.467000,0.486000,0.028000,0.385000,0.021000,5.0112
missense_variant,WIPI1,MISSENSE,NM_017983.5:p.Thr31Ile/c.92C>T,aCt/aTt,MODERATE,,0.736222,0.5337,rs883541,0.24(T),0.0(B),-1.73(N),-0.9768(T),,chr17,66449122,66449122,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr31Ile/c.92C>T|446|WIPI1|protein_coding|CODING|NM_017983.5|2|1),intron_variant(MODIFIER|||c.-7+39186G>A|381|PRKAR1A|protein_coding|CODING|NM_001278433.1|1|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.7914,0.6902,0.7634,0.79,0.83,0.77,,0.000034(N),0.000(P),0.37(T),0.0000(T),0.114,1.467786,6.11,5.02,-0.254000,0.536000,6.391000,0.606000,0.960000,1.000000,8.2244
missense_variant,FAM20A,MISSENSE,NM_017565.3:p.Leu530Ser/c.1589T>C,tTg/tCg,MODERATE,,0.797125,0.8958,rs2907373,0.76(T),"0.0,0.0(B,B)",-1.52(N),-0.9996(T),,chr17,66533655,66533655,A,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu392Ser/c.1175T>C|403|FAM20A|protein_coding|CODING|NM_001243746.1|12|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu530Ser/c.1589T>C|541|FAM20A|protein_coding|CODING|NM_017565.3|11|1),intron_variant(MODIFIER|||c.973+7513A>G|337|PRKAR1A|protein_coding|CODING|NM_001276290.1|9|1),non_coding_exon_variant(MODIFIER|||n.1304T>C||FAM20A||CODING|NR_027751.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7382,0.7608,0.6789,0.72,0.83,0.66,,0.651583(N),1.000(P),,0.0000(T),0.019,-0.755110,5.54,1.13,-0.338000,0.023000,0.360000,0.031000,0.000000,0.000000,2.2353
synonymous_variant,FAM20A,SILENT,NM_017565.3:p.Ser115Ser/c.345G>A,tcG/tcA,LOW,COSM4130530(1),0.169529,0.2748,rs986099,,,,,,chr17,66596463,66596463,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser115Ser/c.345G>A|541|FAM20A|protein_coding|CODING|NM_017565.3|1|1),5_prime_UTR_variant(MODIFIER||44589|c.-296G>A|403|FAM20A|protein_coding|CODING|NM_001243746.1|1|1)","NHEK:CTCF,HepG2:H3K4me2,H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:CTCF,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Rad21,HMEC:H3K4me3,H1ESC:Rad21,H1ESC:CTCF",,,,0.1084,0.2522,0.163,0.13,0.09,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ABCA8,SILENT,NM_001288985.1:p.Pro1414Pro/c.4242C>G,ccC/ccG,LOW,,0.813498,0.9871,rs1481,,,,,,chr17,66872802,66872802,G,C,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1414Pro/c.4242C>G|1621|ABCA8|protein_coding|CODING|NM_001288985.1|34|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1409Pro/c.4227C>G|1616|ABCA8|protein_coding|CODING|NM_001288986.1|33|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1374Pro/c.4122C>G|1581|ABCA8|protein_coding|CODING|NM_007168.3|32|1)",HepG2:H3K27me3,,,,0.8834,0.8559,0.7445,0.73,0.68,0.75,,,,,,,,,,,,,,,,
missense_variant,ABCA9,MISSENSE,NM_080283.3:p.Lys1306Thr/c.3917A>C,aAa/aCa,MODERATE,,0.413339,0.3423,rs2302294,0.01(D),"0.995,0.988(D,D)",1.235(L),-1.0325(T),,chr17,66985992,66985992,T,G,het,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys1306Thr/c.3917A>C|1624|ABCA9|protein_coding|CODING|NM_080283.3|30|1),"HUVEC:H3K36me3,HepG2:H3K27me3",,,,0.5869,0.5476,0.6541,0.48,0.17,0.64,,0.010810(N),0.000(P),"2.54,2.54(T,T)",0.0000(T),0.465,3.747040,4.99,3.89,0.418000,0.723000,4.459000,0.819000,0.969000,1.000000,11.0608
synonymous_variant,ABCA9,SILENT,NM_080283.3:p.Lys478Lys/c.1434A>G,aaA/aaG,LOW,COSM148325(1),0.406949,0.2659,rs2302291,,,,,,chr17,67028260,67028260,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys478Lys/c.1434A>G|1624|ABCA9|protein_coding|CODING|NM_080283.3|10|1),"HUVEC:H3K36me3,HepG2:USF1,HepG2:HNF4A",,,,0.6063,0.5591,0.662,0.52,0.19,0.69,,,,,,,,,,,,,,,,
missense_variant,ABCA9,MISSENSE,NM_080283.3:p.Arg353His/c.1058G>A,cGt/cAt,MODERATE,,0.857827,1,rs1860447,0.52(T),"0.002,0.004(B,B)",-1.3(N),-0.9864(T),,chr17,67031457,67031457,C,T,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg353His/c.1058G>A|1624|ABCA9|protein_coding|CODING|NM_080283.3|8|1),,,,,0.9182,0.9265,0.9334,0.86,0.70,0.94,,0.145442(N),0.000(P),"-2.19,-2.19(D,D)",0.0000(T),0.033,-1.121574,4.14,1.85,-1.239000,-0.031000,2.488000,0.003000,0.967000,0.139000,4.3745
missense_variant,ABCA6,MISSENSE,NM_080284.2:p.Asn1322Ser/c.3965A>G,aAt/aGt,MODERATE,COSM4000276(1),0.459864,0.375,rs2302134,0(D),0.45(P),2.64(M),-1.0109(T),,chr17,67081830,67081830,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn1322Ser/c.3965A>G|1617|ABCA6|protein_coding|CODING|NM_080284.2|31|1),HUVEC:H3K36me3,,,,0.6053,0.6729,0.6481,0.51,0.26,0.65,,0.312616(N),0.000(P),-3.59(D),0.0000(T),0.064,3.008083,4.62,1.13,0.454000,0.059000,2.103000,0.988000,0.986000,0.989000,8.2913
missense_variant,ABCA6,MISSENSE,NM_080284.2:p.Met875Ile/c.2625G>A,atG/atA,MODERATE,,0.747804,0.881,rs7212506,0.48(T),0.002(B),0.205(N),-0.9550(T),,chr17,67101718,67101718,C,T,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met875Ile/c.2625G>A|1617|ABCA6|protein_coding|CODING|NM_080284.2|20|1),"HUVEC:H3K36me3,GM06990:H3K36me3",,,,0.9284,0.7709,0.9324,0.78,0.46,0.94,,0.198531(N),1.000(P),-2.02(D),0.0000(T),0.026,-0.083891,4.97,-1.72,-1.604000,-0.110000,-2.112000,0.002000,0.000000,0.000000,1.5506
missense_variant,ABCA6,MISSENSE,NM_080284.2:p.Val282Ile/c.844G>A,Gtt/Att,MODERATE,COSM4000277(1),0.555112,0.4673,rs4968839,0.33(T),0.002(B),-1.87(N),-0.9026(T),,chr17,67125840,67125840,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val282Ile/c.844G>A|1617|ABCA6|protein_coding|CODING|NM_080284.2|7|1),,,,,0.6697,0.7219,0.7107,0.60,0.41,0.70,,0.069548(N),0.996(P),-1.67(D),0.0000(T),0.046,-0.259664,5.6,2.06,-0.295000,1.048000,1.046000,0.013000,0.290000,0.980000,1.9911
missense_variant,ABCA10,MISSENSE,NM_080282.3:p.Met916Thr/c.2747T>C,aTg/aCg,MODERATE,COSM4000278(2),0.711262,0.4742,rs4968849,0.96(T),"0.0,0.0(B,B)",-1.405(N),-0.9710(T),,chr17,67178316,67178316,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met916Thr/c.2747T>C|1543|ABCA10|protein_coding|CODING|NM_080282.3|23|1),,,,,0.6871,0.7882,0.7326,0.76,0.84,0.72,,0.502466(N),1.000(P),-1.59(D),0.0000(T),0.05,-2.296050,2.76,0.662,-1.152000,-0.189000,0.007000,0.059000,0.000000,0.000000,7.4445
missense_variant,ABCA10,MISSENSE,NM_080282.3:p.Ile287Val/c.859A>G,Att/Gtt,MODERATE,COSM3755780(2),0.261581,0.2788,rs11657804,0.65(T),"0.123,0.123(B,B)",0.585(N),-1.0744(T),,chr17,67210992,67210992,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile287Val/c.859A>G|1543|ABCA10|protein_coding|CODING|NM_080282.3|10|1),splice_region_variant(LOW|||c.859A>G|1543|ABCA10|protein_coding|CODING|NM_080282.3|10|1)",,,,,0.409,0.2839,0.4076,0.30,0.08,0.41,,,0.358(P),"-2.39,-2.39,-2.39(D,D,D)",0.0000(T),0.081,-1.377296,3.34,-0.889,0.416000,-0.462000,0.177000,0.039000,0.040000,0.888000,5.0094
synonymous_variant,ABCA10,SILENT,NM_080282.3:p.Tyr261Tyr/c.783T>C,taT/taC,LOW,COSM4000280(1),0.471446,0.3502,rs11077414,,,,,,chr17,67212031,67212031,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr261Tyr/c.783T>C|1543|ABCA10|protein_coding|CODING|NM_080282.3|9|1),,,,,0.6329,0.5605,0.662,0.58,0.42,0.66,,,,,,,,,,,,,,,,
missense_variant,ABCA10,MISSENSE,NM_080282.3:p.Pro203Ser/c.607C>T,Cca/Tca,MODERATE,COSM4000281(1),0.580671,0.3492,rs9909216,0.87(T),"0.029,0.002(B,B)",-0.11(N),-0.9652(T),,chr17,67212423,67212423,G,A,hom,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro203Ser/c.607C>T|1543|ABCA10|protein_coding|CODING|NM_080282.3|8|1),,,,,0.635,0.6037,0.663,0.65,0.65,0.66,,0.914998(U),1.000(P),"-2.24,-2.24,-2.24(D,D,D)",0.0000(T),0.067,0.140764,3.34,2.35,0.609000,0.585000,0.179000,0.020000,0.005000,0.005000,9.0521
synonymous_variant,ABCA10,SILENT,NM_080282.3:p.Val168Val/c.504G>A,gtG/gtA,LOW,COSM4000282(1),0.598442,0.3462,rs12941264,,,,,,chr17,67215712,67215712,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val168Val/c.504G>A|1543|ABCA10|protein_coding|CODING|NM_080282.3|7|1),,,,,0.6319,0.6066,0.662,0.67,0.70,0.66,,,,,,,,,,,,,,,,
missense_variant,ABCA5,MISSENSE,NM_018672.4:p.Gly1159Arg/c.3475G>A,Gga/Aga,MODERATE,,0.00179712,0,rs144376773,,0.002(B),0.145(N),-0.8238(T),,chr17,67257355,67257355,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1159Arg/c.3475G>A|1642|ABCA5|protein_coding|CODING|NM_018672.4|25|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly1159Arg/c.3475G>A|1642|ABCA5|protein_coding|CODING|NM_172232.3|26|1)",,,,,0.0051,0.0029,0.002,0.00,0.00,0.00,,0.182484(N),0.998(N),"-2.23,-2.23(D,D)",0.3203(T),0.279,0.878602,5.33,2.92,0.650000,1.351000,1.258000,0.937000,0.882000,0.482000,5.7542
synonymous_variant,ABCA5,SILENT,NM_018672.4:p.Leu1089Leu/c.3265T>C,Ttg/Ctg,LOW,COSM3755781(2),0.379393,0.4058,rs12449649,,,,,,chr17,67260926,67260926,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1089Leu/c.3265T>C|1642|ABCA5|protein_coding|CODING|NM_018672.4|23|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1089Leu/c.3265T>C|1642|ABCA5|protein_coding|CODING|NM_172232.3|24|1)",,,,,0.5204,0.353,0.493,0.39,0.23,0.47,,,,,,,,,,,,,,,,
missense_variant,ABCA5,MISSENSE,NM_018672.4:p.Met960Val/c.2878A>G,Atg/Gtg,MODERATE,COSM3755782(1),0.497404,0.6002,rs557491,,0.001(B),0.29(N),-0.9191(T),,chr17,67267317,67267317,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met960Val/c.2878A>G|1642|ABCA5|protein_coding|CODING|NM_018672.4|20|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met960Val/c.2878A>G|1642|ABCA5|protein_coding|CODING|NM_172232.3|21|1)",,,,,0.4724,0.5893,0.4404,0.46,0.45,0.46,,0.035020(N),1.000(P),"-2.13,-2.13(D,D)",0.0000(T),0.043,-1.827882,5.5,1.95,0.482000,0.057000,0.306000,0.149000,0.853000,0.058000,3.3547
missense_variant,ABCA5,MISSENSE,NM_018672.4:p.Ala832Ser/c.2494G>T,Gct/Tct,MODERATE,,0.801717,0.9464,rs536009,,"0.001,0.0(B,B)",-0.14(N),-0.9588(T),,chr17,67273882,67273882,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala832Ser/c.2494G>T|1642|ABCA5|protein_coding|CODING|NM_018672.4|18|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala832Ser/c.2494G>T|1642|ABCA5|protein_coding|CODING|NM_172232.3|19|1)",CD4:H3K36me3,,,,0.9121,0.7478,0.8559,0.78,0.63,0.85,,0.007916(N),1.000(P),"-2.11,-2.11(D,D)",0.0000(T),0.021,-0.151569,5.73,2.1,-0.256000,-0.096000,0.263000,0.989000,0.926000,0.058000,9.9929
synonymous_variant,MAP2K6,SILENT,NM_002758.3:p.Arg31Arg/c.91C>A,Cga/Aga,LOW,COSM4000284(2),0.427316,0.4573,rs1133228,,,,,,chr17,67513003,67513003,C,A,het,synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg31Arg/c.91C>A|334|MAP2K6|protein_coding|CODING|NM_002758.3|3|1),"H1ESC:H3K36me3,GM12878:H3K27ac,GM12878:POU2F2,HepG2:H3K36me3,GM12878:DNase1,GM06990:DNase1",,,,0.4387,0.366,0.4374,0.43,0.41,0.44,,,,,,,,,,,,,,,,
synonymous_variant,SOX9,SILENT,NM_000346.3:p.His169His/c.507C>T,caC/caT,LOW,COSM437264(5),0.136581,0.0139,rs2229989,,,,,,chr17,70118935,70118935,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His169His/c.507C>T|509|SOX9|protein_coding|CODING|NM_000346.3|2|1),"HepG2:H3K4me2,NHEK:H3K4me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000020284.1,,0.2863,0.1254,0.2465,0.17,0.07,0.22,,,,,,,,,,,,,,,,
missense_variant,SLC39A11,MISSENSE,NM_001159770.1:p.Thr111Ala/c.331A>G,Acc/Gcc,MODERATE,,0.88758,0.9901,rs2466517,0.78(T),"0.001,0.0(B,B)",-0.55(N),-0.9561(T),,chr17,70943990,70943990,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr111Ala/c.331A>G|342|SLC39A11|protein_coding|CODING|NM_001159770.1|5|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr111Ala/c.331A>G|335|SLC39A11|protein_coding|CODING|NM_139177.3|5|1)","NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.998,0.9452,0.997,0.89,0.70,1.00,,0.003758(N),1.000(P),"-0.98,-0.96(T,T)",0.0000(T),0.263,1.391674,4.62,4.62,-0.119000,0.953000,2.562000,0.435000,0.993000,0.997000,8.9389
synonymous_variant,COG1,SILENT,NM_018714.2:p.Gln111Gln/c.333G>A,caG/caA,LOW,COSM3755787(1),0.449481,0.6171,rs1052706,,,,,,chr17,71192663,71192663,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln111Gln/c.333G>A|980|COG1|protein_coding|CODING|NM_018714.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:CTCF,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081966.1,,0.4438,0.4726,0.5457,0.45,0.28,0.53,,,,,,,,,,,,,,,,
synonymous_variant,COG1,SILENT,NM_018714.2:p.Ala181Ala/c.543A>G,gcA/gcG,LOW,,0.451278,0.6181,rs11544800,,,,,,chr17,71192873,71192873,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala181Ala/c.543A>G|980|COG1|protein_coding|CODING|NM_018714.2|2|1),"NHEK:CTCF,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1,H1ESC:Rad21",,RCV000081968.1,,0.4438,0.4755,0.5457,0.45,0.28,0.54,,,,,,,,,,,,,,,,
missense_variant,COG1,MISSENSE,NM_018714.2:p.Asn392Ser/c.1175A>G,aAt/aGt,MODERATE,COSM3755788(2),0.520966,0.6171,rs1026128,1(T),"0.001,0.0(B,B)",0.11(N),-0.9636(T),,chr17,71196809,71196809,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn392Ser/c.1175A>G|980|COG1|protein_coding|CODING|NM_018714.2|6|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081960.1,,0.4448,0.5,0.5527,0.53,0.52,0.54,,0.068579(N),0.998(P),"2.01,2.02(T,T)",0.0000(T),0.028,1.350473,5.53,-2.44,0.460000,-0.404000,1.233000,0.704000,0.000000,0.859000,8.4993
synonymous_variant,COG1,SILENT,NM_018714.2:p.Glu594Glu/c.1782G>A,gaG/gaA,LOW,COSM3755791(1),0.525359,0.6171,rs1037256,,,,,,chr17,71197748,71197748,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu594Glu/c.1782G>A|980|COG1|protein_coding|CODING|NM_018714.2|7|1),"H1ESC:H3K36me3,K562:PolII,HepG2:p300,HepG2:Sin3Ak20,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:HDAC2,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,K562:Cjun,HepG2:HNF4A,HepG2:FOSL2,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Jund,K562:DNase1,K562:Jund",,RCV000081963.1,,0.4448,0.5014,0.5527,0.54,0.53,0.54,,,,,,,,,,,,,,,,
missense_variant,FAM104A,MISSENSE,NM_001289411.1:p.Ile98Thr/c.293T>C,aTa/aCa,MODERATE,COSM3755793(4),0.576078,0.6171,rs8387,,,,,,chr17,71205854,71205854,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile92Thr/c.275T>C|103|FAM104A|protein_coding|CODING|NM_001289410.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile98Thr/c.293T>C|109|FAM104A|protein_coding|CODING|NM_001289411.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn146Asn/c.438T>C|207|FAM104A|protein_coding|CODING|NM_001098832.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn79Asn/c.237T>C|140|FAM104A|protein_coding|CODING|NM_001289412.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn125Asn/c.375T>C|186|FAM104A|protein_coding|CODING|NM_032837.2|3|1),downstream_gene_variant(MODIFIER||1209||980|COG1|protein_coding|CODING|NM_018714.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5245,0.5692,0.6412,0.62,0.58,0.64,,,,,,,,,,,,,,,,
missense_variant,C17orf80,MISSENSE,NM_017941.5:p.Phe356Leu/c.1066T>C,Ttc/Ctc,MODERATE,COSM3755795(1),0.519369,0.6329,rs386610275,0.31(T),"0.002,0.003,0.003,0.004(B,B,B,B)",1.5(L),-1.0190(T),,chr17,71232687,71232687,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe356Leu/c.1066T>C|573|C17orf80|protein_coding|CODING|NM_001100621.2|3|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe356Leu/c.1066T>C|583|C17orf80|protein_coding|CODING|NM_001100622.2|3|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe356Leu/c.1066T>C|573|C17orf80|protein_coding|CODING|NM_001288770.1|3|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe356Leu/c.1066T>C|547|C17orf80|protein_coding|CODING|NM_001288771.1|3|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe356Leu/c.1066T>C|609|C17orf80|protein_coding|CODING|NM_017941.5|3|1),intron_variant(MODIFIER|||n.202+3223T>C||C17orf80||CODING|NR_110105.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4162,0.5029,0.5586,0.53,0.51,0.54,,0.158484(N),1.000(P),"2.8,2.97,2.79,2.98,2.97(T,T,T,T,T)",0.0000(T),0.071,-0.538527,5.28,1.81,-1.195000,-0.214000,-0.218000,0.040000,0.000000,0.004000,9.1155
missense_variant,C17orf80,MISSENSE,NM_017941.5:p.His395Asn/c.1183C>A,Cat/Aat,MODERATE,,0.990415,1,rs904384,1(T),"0.0,0.0,0.0(B,B,B)",-1.79(N),-0.9437(T),,chr17,71232804,71232804,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His395Asn/c.1183C>A|573|C17orf80|protein_coding|CODING|NM_001100621.2|3|1),missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His395Asn/c.1183C>A|583|C17orf80|protein_coding|CODING|NM_001100622.2|3|1),missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His395Asn/c.1183C>A|573|C17orf80|protein_coding|CODING|NM_001288770.1|3|1),missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His395Asn/c.1183C>A|547|C17orf80|protein_coding|CODING|NM_001288771.1|3|1),missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His395Asn/c.1183C>A|609|C17orf80|protein_coding|CODING|NM_017941.5|3|1),intron_variant(MODIFIER|||n.202+3340C>A||C17orf80||CODING|NR_110105.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,0.99,0.98,1.00,,0.129004(N),1.000(P),"2.8,2.8,2.8,2.8,2.8(T,T,T,T,T)",0.0000(T),0.048,0.556495,4.71,0.997,-0.363000,-0.334000,-1.278000,0.005000,0.000000,0.000000,12.3872
missense_variant,C17orf80,MISSENSE,NM_017941.5:p.Cys396Arg/c.1186T>C,Tgt/Cgt,MODERATE,COSM3755797(2),0.522364,0.6329,rs904383,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.39(N),-0.9398(T),,chr17,71232807,71232807,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys396Arg/c.1186T>C|573|C17orf80|protein_coding|CODING|NM_001100621.2|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys396Arg/c.1186T>C|583|C17orf80|protein_coding|CODING|NM_001100622.2|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys396Arg/c.1186T>C|573|C17orf80|protein_coding|CODING|NM_001288770.1|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys396Arg/c.1186T>C|547|C17orf80|protein_coding|CODING|NM_001288771.1|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys396Arg/c.1186T>C|609|C17orf80|protein_coding|CODING|NM_017941.5|3|1),intron_variant(MODIFIER|||n.202+3343T>C||C17orf80||CODING|NR_110105.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4182,0.5101,0.5666,0.53,0.51,0.54,,0.037232(N),1.000(P),"2.84,2.84,2.84,2.84,2.84(T,T,T,T,T)",0.0000(T),0.045,0.614691,4.71,2.65,-1.147000,0.542000,0.898000,0.002000,0.000000,0.000000,5.6895
missense_variant,C17orf80,MISSENSE,NM_017941.5:p.Gln420His/c.1260G>C,caG/caC,MODERATE,COSM3755799(3),0.521765,0.6329,rs745142,0.3(T),"0.318,0.318,0.413,0.323(B,B,B,B)",0.895(L),-0.9463(T),,chr17,71232881,71232881,G,C,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln420His/c.1260G>C|573|C17orf80|protein_coding|CODING|NM_001100621.2|3|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln420His/c.1260G>C|583|C17orf80|protein_coding|CODING|NM_001100622.2|3|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln420His/c.1260G>C|573|C17orf80|protein_coding|CODING|NM_001288770.1|3|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln420His/c.1260G>C|547|C17orf80|protein_coding|CODING|NM_001288771.1|3|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln420His/c.1260G>C|609|C17orf80|protein_coding|CODING|NM_017941.5|3|1),intron_variant(MODIFIER|||n.202+3417G>C||C17orf80||CODING|NR_110105.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4172,0.5101,0.5646,0.53,0.51,0.54,,0.000059(N),1.000(P),"2.62,2.84,2.62,2.82,2.84(T,T,T,T,T)",0.0000(T),0.083,0.865125,4.87,1.64,0.561000,0.439000,-0.011000,0.091000,0.005000,0.000000,3.771
synonymous_variant,C17orf80,SILENT,NM_017941.5:p.Ser503Ser/c.1509A>G,tcA/tcG,LOW,COSM4130547(1),0.519569,0.6329,rs11869253,,,,,,chr17,71233130,71233130,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser503Ser/c.1509A>G|573|C17orf80|protein_coding|CODING|NM_001100621.2|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser503Ser/c.1509A>G|583|C17orf80|protein_coding|CODING|NM_001100622.2|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser503Ser/c.1509A>G|573|C17orf80|protein_coding|CODING|NM_001288770.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser503Ser/c.1509A>G|547|C17orf80|protein_coding|CODING|NM_001288771.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser503Ser/c.1509A>G|609|C17orf80|protein_coding|CODING|NM_017941.5|3|1),intron_variant(MODIFIER|||n.202+3666A>G||C17orf80||CODING|NR_110105.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4162,0.5029,0.5586,0.54,0.52,0.54,,,,,,,,,,,,,,,,
missense_variant,C17orf80,MISSENSE,NM_017941.5:p.Ala522Thr/c.1564G>A,Gcc/Acc,MODERATE,,0.515974,0.6379,rs1566286,1(T),"0.001,0.0(B,B)",-1.24(N),-0.9237(T),,chr17,71238433,71238433,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala522Thr/c.1564G>A|583|C17orf80|protein_coding|CODING|NM_001100622.2|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala522Thr/c.1564G>A|609|C17orf80|protein_coding|CODING|NM_017941.5|4|1),intron_variant(MODIFIER|||c.1514-602G>A|573|C17orf80|protein_coding|CODING|NM_001100621.2|3|1),intron_variant(MODIFIER|||c.1514-602G>A|573|C17orf80|protein_coding|CODING|NM_001288770.1|3|1),intron_variant(MODIFIER|||c.1514-602G>A|547|C17orf80|protein_coding|CODING|NM_001288771.1|3|1),non_coding_exon_variant(MODIFIER|||n.253G>A||C17orf80||CODING|NR_110105.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.41,0.5,0.5577,0.53,0.50,0.54,,0.932748(N),1.000(P),"2.7,2.7,2.7(T,T,T)",0.0000(T),0.031,-1.223528,5.67,-11.3,-1.204000,-2.805000,-0.879000,0.269000,0.000000,0.000000,13.613
synonymous_variant,C17orf80,SILENT,NM_017941.5:p.Thr558Thr/c.1674G>T,acG/acT,LOW,COSM3755800(1),0.220248,0.1558,rs1566290,,,,,,chr17,71239087,71239087,G,T,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr522Thr/c.1566G>T|573|C17orf80|protein_coding|CODING|NM_001100621.2|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr558Thr/c.1674G>T|583|C17orf80|protein_coding|CODING|NM_001100622.2|5|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr522Thr/c.1566G>T|573|C17orf80|protein_coding|CODING|NM_001288770.1|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr522Thr/c.1566G>T|547|C17orf80|protein_coding|CODING|NM_001288771.1|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr558Thr/c.1674G>T|609|C17orf80|protein_coding|CODING|NM_017941.5|5|1),non_coding_exon_variant(MODIFIER|||n.363G>T||C17orf80||CODING|NR_110105.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3047,0.3761,0.331,0.27,0.09,0.36,,,,,,,,,,,,,,,,
synonymous_variant,SDK2,SILENT,NM_001144952.1:p.Gly1230Gly/c.3690G>T,ggG/ggT,LOW,,0.207268,0.0456,rs904381,,,,,,chr17,71390366,71390366,C,A,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly1230Gly/c.3690G>T|2172|SDK2|protein_coding|CODING|NM_001144952.1|26|1),"NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1646,0.4611,0.4354,0.35,0.13,0.47,,,,,,,,,,,,,,,,
synonymous_variant,SDK2,SILENT,NM_001144952.1:p.Thr865Thr/c.2595C>G,acC/acG,LOW,COSM437275(1),0.381989,0.2133,rs9302962,,,,,,chr17,71398170,71398170,G,C,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr865Thr/c.2595C>G|2172|SDK2|protein_coding|CODING|NM_001144952.1|19|1),"H1ESC:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K36me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.2393,0.2622,0.3817,0.48,0.64,0.39,,,,,,,,,,,,,,,,
missense_variant,SDK2,MISSENSE,NM_001144952.1:p.Thr526Asn/c.1577C>A,aCc/aAc,MODERATE,COSM3755810(1),0.135383,0.0704,rs1105353,,,1.815(L),-1.0583(T),,chr17,71426656,71426656,G,T,het,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr526Asn/c.1577C>A|2172|SDK2|protein_coding|CODING|NM_001144952.1|12|1),"NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1217,0.1974,0.2922,0.21,0.08,0.27,,,1.000(P),,0.0000(T),.,-0.440461,3.89,3.89,0.462000,1.887000,2.817000,0.028000,0.815000,0.177000,6.8444
synonymous_variant,SDK2,SILENT,NM_001144952.1:p.His521His/c.1563C>T,caC/caT,LOW,COSM3755812(1),0.132588,0.0655,rs1105354,,,,,,chr17,71426670,71426670,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His521His/c.1563C>T|2172|SDK2|protein_coding|CODING|NM_001144952.1|12|1),"NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1145,0.1974,0.2903,0.21,0.08,0.27,,,0.000(P),,,.,-0.503757,4.08,-5.92,-0.369000,-1.056000,-0.479000,0.171000,0.945000,0.099000,13.5169
missense_variant,LOC100134391,MISSENSE,NM_001278587.1:p.Tyr48Cys/c.143A>G,tAt/tGt,MODERATE,,0.532947,0.2877,rs2620035,,,,,,chr17,71746796,71746796,A,G,hom,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr48Cys/c.143A>G|296|LOC100134391|protein_coding|CODING|NM_001278587.1|3|1),intron_variant(MODIFIER|||n.321-159T>C||LINC00469||NON_CODING|NR_027146.1|3|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4939,0.5303,0.4483,,,,,,,,,,,,,,,,,,,
synonymous_variant,TTYH2,SILENT,NM_032646.5:p.Leu319Leu/c.957T>C,ctT/ctC,LOW,COSM3755815(2),0.410743,0.1101,rs3897753,,,,,,chr17,72246101,72246101,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu319Leu/c.957T>C|534|TTYH2|protein_coding|CODING|NM_032646.5|9|1),5_prime_UTR_variant(MODIFIER||7|c.-7T>C|213|TTYH2|protein_coding|CODING|NM_052869.1|3|1)",HMEC:H3K27me3,,,,0.3865,0.3141,0.3638,0.50,0.68,0.41,,,,,,,,,,,,,,,,
synonymous_variant,TTYH2,SILENT,NM_032646.5:p.Thr362Thr/c.1086C>T,acC/acT,LOW,COSM148334(1),0.355631,0.1101,rs7224615,,,,,,chr17,72246466,72246466,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr362Thr/c.1086C>T|534|TTYH2|protein_coding|CODING|NM_032646.5|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr41Thr/c.123C>T|213|TTYH2|protein_coding|CODING|NM_052869.1|4|1)",K562:USF1,,,,0.3855,0.2954,0.3588,0.45,0.53,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TTYH2,SILENT,NM_032646.5:p.Ala409Ala/c.1227A>G,gcA/gcG,LOW,COSM148336(1),0.358826,0.1101,rs4789640,,,,,,chr17,72248483,72248483,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala409Ala/c.1227A>G|534|TTYH2|protein_coding|CODING|NM_032646.5|11|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala88Ala/c.264A>G|213|TTYH2|protein_coding|CODING|NM_052869.1|5|1)","GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3865,0.2983,0.3608,0.42,0.50,0.38,,,,,,,,,,,,,,,,
missense_variant,TTYH2,MISSENSE,NM_032646.5:p.Asp423Glu/c.1269C>A,gaC/gaA,MODERATE,COSM3755816(1),0.183706,0.0466,rs9899862,0.28(T),"0.015,0.042(B,B)",1.825(L),-0.9806(T),,chr17,72249229,72249229,C,A,het,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp423Glu/c.1269C>A|534|TTYH2|protein_coding|CODING|NM_032646.5|12|1),missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp102Glu/c.306C>A|213|TTYH2|protein_coding|CODING|NM_052869.1|6|1)","GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2587,0.1369,0.2147,0.24,0.23,0.25,,0.000348(D),0.000(P),"2.67,2.67,2.67(T,T,T)",0.0000(T),0.154,1.486385,4.51,3.51,0.561000,1.065000,0.568000,0.851000,0.997000,0.997000,4.3371
synonymous_variant,DNAI2,SILENT,NM_023036.4:p.Glu354Glu/c.1062A>G,gaA/gaG,LOW,COSM4130569(1),0.398762,0.254,rs386615251,,,,,,chr17,72301432,72301432,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu354Glu/c.1062A>G|593|DNAI2|protein_coding|CODING|NM_001172810.1|9|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu354Glu/c.1062A>G|605|DNAI2|protein_coding|CODING|NM_023036.4|9|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4867,0.3732,0.6103,0.53,0.36,0.62,,,,,,,,,,,,,,,,
missense_variant,DNAI2,MISSENSE,NM_023036.4:p.Ala558Thr/c.1672G>A,Gca/Aca,MODERATE,COSM4130570(1),0.740815,0.8512,rs1979370,0.59(T),0.0(B),1.32(L),-0.9961(T),,chr17,72308319,72308319,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala546Thr/c.1636G>A|593|DNAI2|protein_coding|CODING|NM_001172810.1|12|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala558Thr/c.1672G>A|605|DNAI2|protein_coding|CODING|NM_023036.4|12|1)","H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7986,0.8775,0.8946,0.77,0.50,0.91,,0.052081(N),1.000(P),"-0.21,-0.21(T,T)",0.0000(T),0.049,0.240835,4.71,-9.42,-0.265000,-4.099000,-2.581000,0.006000,0.000000,0.000000,2.5037
synonymous_variant,KIF19,SILENT,NM_153209.3:p.His466His/c.1398T>C,caT/caC,LOW,COSM3755820(1),0.602436,0.7421,rs11077744,,,,,,chr17,72346855,72346855,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His466His/c.1398T>C|998|KIF19|protein_coding|CODING|NM_153209.3|12|1),"GM06990:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7699,0.7493,0.7843,0.61,0.25,0.80,,,,,,,,,,,,,,,,
synonymous_variant,KIF19,SILENT,NM_153209.3:p.Asp487Asp/c.1461C>T,gaC/gaT,LOW,,0.0726837,0.001,rs73995260,,,,,,chr17,72346918,72346918,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp487Asp/c.1461C>T|998|KIF19|protein_coding|CODING|NM_153209.3|12|1),"GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0153,0.0447,0.0586,0.10,0.18,0.05,,,,,,,,,,,,,,,,
synonymous_variant,KIF19,SILENT,NM_153209.3:p.Ser687Ser/c.2061C>T,agC/agT,LOW,,0.311102,0.0813,rs9897137,,,,,,chr17,72349040,72349040,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser687Ser/c.2061C>T|998|KIF19|protein_coding|CODING|NM_153209.3|15|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1411,0.232,0.1819,0.32,0.63,0.17,,,,,,,,,,,,,,,,
synonymous_variant,KIF19,SILENT,NM_153209.3:p.Ser696Ser/c.2088C>T,agC/agT,LOW,COSM3755821(2),0.330471,0.3988,rs2280108,,,,,,chr17,72349067,72349067,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser696Ser/c.2088C>T|998|KIF19|protein_coding|CODING|NM_153209.3|15|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4039,0.4409,0.5109,0.38,0.11,0.51,,,,,,,,,,,,,,,,
missense_variant,KIF19,MISSENSE,NM_153209.3:p.Arg807His/c.2420G>A,cGc/cAc,MODERATE,COSM437309(14),0.343051,0.4008,rs2271535,0.19(T),0.002(B),1.7(L),-0.9665(T),,chr17,72350412,72350412,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg807His/c.2420G>A|998|KIF19|protein_coding|CODING|NM_153209.3|18|1),"NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.4581,0.4207,0.4712,0.36,0.14,0.47,,,0.985(P),-0.6(T),0.0000(T),0.1,2.036734,5.06,1.78,0.556000,1.141000,1.286000,0.417000,0.967000,1.000000,6.784
missense_variant,GPR142,MISSENSE,NM_181790.1:p.His132Asn/c.394C>A,Cac/Aac,MODERATE,,0.954473,1,rs2382647,1(T),"0.0,0.0(B,B)",-0.695(N),-0.9371(T),,chr17,72366695,72366695,C,A,hom,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His132Asn/c.394C>A|462|GPR142|protein_coding|CODING|NM_181790.1|3|1),"K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.956,0.9784,0.998,0.96,0.89,1.00,,0.000001(N),1.000(P),-0.14(T),0.0000(T),0.053,0.048212,4.64,4.64,-0.855000,0.891000,.,0.033000,0.879000,.,8.9746
synonymous_variant,GPR142,SILENT,NM_181790.1:p.Asn400Asn/c.1200T>C,aaT/aaC,LOW,COSM3755823(3),0.595647,0.4067,rs11658891,,,,,,chr17,72368550,72368550,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn400Asn/c.1200T>C|462|GPR142|protein_coding|CODING|NM_181790.1|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6462,0.4827,0.5845,0.64,0.74,0.59,,,,,,,,,,,,,,,,
synonymous_variant,CD300A,SILENT,NM_007261.3:p.Pro108Pro/c.324A>G,ccA/ccG,LOW,,0.687101,0.7212,rs1127737,,,,,,chr17,72469958,72469958,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro108Pro/c.324A>G|299|CD300A|protein_coding|CODING|NM_007261.3|2|1),intron_variant(MODIFIER|||c.41-713A>G|186|CD300A|protein_coding|CODING|NM_001256841.1|1|1)","GM12878:H3K36me3,NHEK:H3K27me3,CD4:H3K4me1,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5419,0.6657,0.4483,0.59,0.89,0.43,,,,,,,,,,,,,,,,
missense_variant,CD300A,MISSENSE,NM_007261.3:p.Arg111Gln/c.332G>A,cGa/cAa,MODERATE,,0.345647,0.1964,rs2272111,0.63(T),0.015(B),0.405(N),-1.0576(T),,chr17,72469966,72469966,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg111Gln/c.332G>A|299|CD300A|protein_coding|CODING|NM_007261.3|2|1),intron_variant(MODIFIER|||c.41-705G>A|186|CD300A|protein_coding|CODING|NM_001256841.1|1|1)","GM12878:H3K36me3,NHEK:H3K27me3,CD4:H3K4me1,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2577,0.2161,0.1978,0.35,0.63,0.20,,,1.000(P),4.13(T),0.0000(T),0.031,-0.708406,1.13,-2.22,-1.277000,-0.558000,-3.049000,0.000000,0.000000,0.000000,4.3704
synonymous_variant,CD300LB,SILENT,NM_174892.3:p.Ile120Ile/c.360C>T,atC/atT,LOW,COSM4000290(1),0.30631,0.2242,rs17553512,,,,,,chr17,72521897,72521897,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile120Ile/c.360C>T|201|CD300LB|protein_coding|CODING|NM_174892.3|2|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4509,0.3818,0.5497,0.40,0.12,0.55,,,,,,,,,,,,,,,,
synonymous_variant,CD300C,SILENT,NM_006678.4:p.Ala32Ala/c.96G>A,gcG/gcA,LOW,,0.0593051,0.005,rs2292107,,,,,,chr17,72541052,72541052,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala32Ala/c.96G>A|224|CD300C|protein_coding|CODING|NM_006678.4|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0818,0.0951,0.1163,0.10,0.03,0.13,,,,,,,,,,,,,,,,
missense_variant,CD300LD,MISSENSE,NM_001115152.1:p.Val89Met/c.265G>A,Gtg/Atg,MODERATE,COSM148338(4),0.342452,0.249,rs386613502,0.19(T),0.046(B),1.83(L),-0.9074(T),,chr17,72584764,72584764,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val89Met/c.265G>A|194|CD300LD|protein_coding|CODING|NM_001115152.1|2|1),intron_variant(MODIFIER|||c.-290-1894C>T|243|C17orf77|protein_coding|CODING|NM_152460.2|1|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2628,0.2161,0.1829,0.32,0.57,0.21,,0.152512(N),1.000(P),-0.15(T),0.0000(T),0.021,1.054409,4.67,-0.509,-0.361000,-0.727000,-0.650000,0.001000,0.000000,0.000000,4.8858
missense_variant,C17orf77,MISSENSE,NM_152460.2:p.Arg47Ser/c.141A>C,agA/agC,MODERATE,COSM1130172(2),0.674321,0.5714,rs493430,,0.0(B),,-1.0104(T),,chr17,72588326,72588326,A,C,hom,"missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg47Ser/c.141A>C|243|C17orf77|protein_coding|CODING|NM_152460.2|3|1),missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser6Ala/c.16T>G|194|CD300LD|protein_coding|CODING|NM_001115152.1|1|1)","NHEK:H3K27me3,HepG2:H3K27me3,GM12878:PU1",,,,0.6554,0.5533,0.675,0.72,0.81,0.67,,,1.000(P),"0.52,0.52(T,T)",0.0000(T),0.082,1.012840,4.18,2.12,-0.167000,0.142000,-0.793000,0.002000,0.025000,0.000000,3.4548
missense_variant,C17orf77,MISSENSE,NM_152460.2:p.Thr198Ile/c.593C>T,aCa/aTa,MODERATE,COSM148339(4),0.109625,0.2024,rs58253413,,0.114(B),0(N),-1.0135(T),,chr17,72588778,72588778,C,T,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr198Ile/c.593C>T|243|C17orf77|protein_coding|CODING|NM_152460.2|3|1),upstream_gene_variant(MODIFIER||408||194|CD300LD|protein_coding|CODING|NM_001115152.1||1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1135,0.0692,0.0437,0.06,0.09,0.04,,,1.000(P),"0.65,0.65(T,T)",0.0001(T),0.048,-0.256921,2.29,-2.72,-0.436000,-0.613000,-0.120000,0.034000,0.000000,0.001000,3.3787
stop_gained,C17orf77,NONSENSE,NM_152460.2:p.Cys207*/c.621C>A,tgC/tgA,HIGH,,0.223642,0.0476,rs545652,,,,,,chr17,72588806,72588806,C,A,het,"stop_gained(HIGH|NONSENSE|tgC/tgA|p.Cys207*/c.621C>A|243|C17orf77|protein_coding|CODING|NM_152460.2|3|1),upstream_gene_variant(MODIFIER||436||194|CD300LD|protein_coding|CODING|NM_001115152.1||1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1493,0.1441,0.1392,0.27,0.45,0.17,,,0.895(P),,,.,4.351629,2.38,2.38,0.511000,1.642000,-0.036000,0.031000,0.007000,0.000000,8.3461
missense_variant,CD300LF,MISSENSE,NM_001289084.1:p.Gln233Arg/c.698A>G,cAa/cGa,MODERATE,COSM1385796(2),0.705072,0.6647,rs2034310,0.78(T),"0.001,0.001,0.001(B,B,B)",-0.55(N),-1.0046(T),,chr17,72691928,72691928,T,C,het,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln233Arg/c.698A>G|305|CD300LF|protein_coding|CODING|NM_001289084.1|6|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln221Arg/c.662A>G|293|CD300LF|protein_coding|CODING|NM_001289085.1|7|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln218Arg/c.653A>G|290|CD300LF|protein_coding|CODING|NM_139018.4|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala183Ala/c.549A>G|194|CD300LF|protein_coding|CODING|NM_001289082.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala233Ala/c.699A>G|244|CD300LF|protein_coding|CODING|NM_001289083.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala228Ala/c.684A>G|239|CD300LF|protein_coding|CODING|NM_001289086.1|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala210Ala/c.630A>G|221|CD300LF|protein_coding|CODING|NM_001289087.1|5|1),intron_variant(MODIFIER|||c.72+24131T>C|216|RAB37|protein_coding|CODING|NM_175738.4|1|1),non_coding_exon_variant(MODIFIER|||n.825A>G||CD300LF||CODING|NR_110298.1|5|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.7618,0.7089,0.8141,0.76,0.64,0.81,,0.379527(N),1.000(P),0.91(T),0.0000(T),0.049,-0.266639,4.54,-0.605,-0.253000,-0.239000,-0.152000,0.006000,0.003000,0.005000,4.3903
missense_variant,CD300LF,MISSENSE,NM_001289084.1:p.Val19Ala/c.56T>C,gTc/gCc,MODERATE,,0.609026,0.7351,rs35489971,1(T),"0.006,0.001,0.002,0.001,0.001,0.001(B,B,B,B,B,B)",0.345(N),-0.9957(T),,chr17,72700943,72700943,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val22Ala/c.65T>C|194|CD300LF|protein_coding|CODING|NM_001289082.1|3|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val19Ala/c.56T>C|244|CD300LF|protein_coding|CODING|NM_001289083.1|2|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val19Ala/c.56T>C|305|CD300LF|protein_coding|CODING|NM_001289084.1|2|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val22Ala/c.65T>C|293|CD300LF|protein_coding|CODING|NM_001289085.1|3|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val22Ala/c.65T>C|239|CD300LF|protein_coding|CODING|NM_001289086.1|3|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val19Ala/c.56T>C|221|CD300LF|protein_coding|CODING|NM_001289087.1|2|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val19Ala/c.56T>C|290|CD300LF|protein_coding|CODING|NM_139018.4|2|1),intron_variant(MODIFIER|||c.73-24452A>G|216|RAB37|protein_coding|CODING|NM_175738.4|1|1),non_coding_exon_variant(MODIFIER|||n.364T>C||CD300LF||CODING|NR_110298.1|3|1)","GM06990:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7526,0.549,0.8191,0.66,0.35,0.81,,0.073845(N),1.000(P),"3.74,3.73,3.65,3.81(T,T,T,T)",0.0000(T),0.023,-0.926103,3.15,0.208,-0.215000,-0.005000,0.033000,0.007000,0.001000,0.002000,3.6579
missense_variant,GRIN2C,MISSENSE,NM_000835.4:p.Arg1209Ser/c.3627G>T,agG/agT,MODERATE,COSM1479974(3),0.289537,0.381,rs3744215,0.04(D),0.001(B),0.805(L),-0.9075(T),,chr17,72838649,72838649,C,A,het,"missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg1209Ser/c.3627G>T|1233|GRIN2C|protein_coding|CODING|NM_000835.4|13|1),downstream_gene_variant(MODIFIER||1522||873|GRIN2C|protein_coding|CODING|NM_001278553.1||1),non_coding_exon_variant(MODIFIER|||n.3779G>T||GRIN2C||CODING|NR_103735.1|13|1)","HepG2:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.2648,0.1931,0.2942,0.29,0.31,0.28,,0.726218(N),0.000(P),2.84(T),0.0000(T),0.068,2.631722,4.74,-1.36,-0.258000,-0.045000,0.514000,0.666000,0.188000,0.000000,3.6082
synonymous_variant,GRIN2C,SILENT,NM_000835.4:p.Ala33Ala/c.99T>C,gcT/gcC,LOW,COSM437342(4),0.795927,0.7341,rs386605813,,,,,,chr17,72851133,72851133,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|1233|GRIN2C|protein_coding|CODING|NM_000835.4|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|873|GRIN2C|protein_coding|CODING|NM_001278553.1|2|1),non_coding_exon_variant(MODIFIER|||n.255T>C||GRIN2C||CODING|NR_103735.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7434,0.7954,0.8897,0.88,0.82,0.90,,,,,,,,,,,,,,,,
missense_variant,FDXR,MISSENSE,NM_001258012.2:p.Arg166Gln/c.497G>A,cGg/cAg,MODERATE,COSM1479985(4),0.185104,0.378,rs690514,0.31(T),"0.02,0.01,0.015,0.013,0.004,0.009,0.004,0.02(B,B,B,B,B,B,B,B)",0.765(N),-0.9660(T),,chr17,72862593,72862593,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg115Gln/c.344G>A|483|FDXR|protein_coding|CODING|NM_001258014.2|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg166Gln/c.497G>A|534|FDXR|protein_coding|CODING|NM_001258012.2|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg154Gln/c.461G>A|522|FDXR|protein_coding|CODING|NM_001258013.2|5|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg71Gln/c.212G>A|439|FDXR|protein_coding|CODING|NM_001258016.2|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg123Gln/c.368G>A|497|FDXR|protein_coding|CODING|NM_004110.4|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg123Gln/c.368G>A|491|FDXR|protein_coding|CODING|NM_024417.3|4|1),intron_variant(MODIFIER|||c.274-227G>A|451|FDXR|protein_coding|CODING|NM_001258015.2|3|1),non_coding_exon_variant(MODIFIER|||n.555G>A||FDXR||CODING|NR_047576.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.181,0.1571,0.2147,0.17,0.07,0.22,,0.132305(N),0.000(P),"-0.38,-0.38,-0.38,-0.38,-0.38(T,T,T,T,T)",0.0000(T),0.097,1.591102,5.05,-1.99,-0.367000,-0.351000,-1.415000,0.431000,0.953000,0.000000,11.0447
missense_variant,FDXR,MISSENSE,NM_001258012.2:p.Asp92Gly/c.275A>G,gAc/gGc,MODERATE,,0.1875,0.38,rs1688149,,0.0(B),,-0.9039(T),,chr17,72863030,72863030,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp92Gly/c.275A>G|534|FDXR|protein_coding|CODING|NM_001258012.2|3|1),intron_variant(MODIFIER|||c.22-32A>G|439|FDXR|protein_coding|CODING|NM_001258016.2|1|1),intron_variant(MODIFIER|||c.271-32A>G|522|FDXR|protein_coding|CODING|NM_001258013.2|3|1),intron_variant(MODIFIER|||c.178-32A>G|483|FDXR|protein_coding|CODING|NM_001258014.2|2|1),intron_variant(MODIFIER|||c.178-32A>G|497|FDXR|protein_coding|CODING|NM_004110.4|2|1),intron_variant(MODIFIER|||c.178-32A>G|491|FDXR|protein_coding|CODING|NM_024417.3|2|1),intron_variant(MODIFIER|||c.178-29A>G|451|FDXR|protein_coding|CODING|NM_001258015.2|2|1),intron_variant(MODIFIER|||n.362-29A>G||FDXR||CODING|NR_047576.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.184,0.1614,0.2187,0.17,0.06,0.22,,,1.000(P),3.36(T),0.0000(T),0.129,0.947610,4.38,-5.56,-1.163000,-1.270000,-1.266000,0.006000,0.000000,0.000000,8.8315
missense_variant,OTOP3,MISSENSE,NM_178233.2:p.Arg64Gln/c.191G>A,cGg/cAg,MODERATE,COSM330355(3),0.5627,0.5665,rs7210616,0.32(T),0.001(B),0.69(N),-0.9876(T),,chr17,72937605,72937605,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg46Gln/c.137G>A|578|OTOP3|protein_coding|CODING|NM_001272005.1|2|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg64Gln/c.191G>A|596|OTOP3|protein_coding|CODING|NM_178233.2|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6012,0.6902,0.7326,0.61,0.41,0.72,,0.023307(N),1.000(P),3.05(T),0.0000(T),0.042,1.062352,4.86,-9.71,-1.587000,-2.531000,-2.067000,0.030000,0.000000,0.000000,7.1854
missense_variant,OTOP3,MISSENSE,NM_178233.2:p.Arg146Gln/c.437G>A,cGa/cAa,MODERATE,COSM4130594(1),0.653754,0.7341,rs9890664,0.53(T),0.001(B),0.115(N),-1.0050(T),,chr17,72937851,72937851,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg128Gln/c.383G>A|578|OTOP3|protein_coding|CODING|NM_001272005.1|2|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg146Gln/c.437G>A|596|OTOP3|protein_coding|CODING|NM_178233.2|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6616,0.7695,0.6948,0.63,0.55,0.67,,0.981934(N),1.000(P),3.17(T),0.0000(T),0.016,-0.780058,4.71,-6.34,-0.448000,-0.910000,-0.031000,0.005000,0.000000,0.004000,9.6546
missense_variant,OTOP3,MISSENSE,NM_178233.2:p.Ser199Pro/c.595T>C,Tct/Cct,MODERATE,,0.90615,0.9603,rs1542752,1(T),0.0(B),-2.045(N),-1.0148(T),,chr17,72938100,72938100,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser181Pro/c.541T>C|578|OTOP3|protein_coding|CODING|NM_001272005.1|3|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser199Pro/c.595T>C|596|OTOP3|protein_coding|CODING|NM_178233.2|3|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8517,0.9035,0.8429,0.87,0.94,0.83,,0.000025(N),1.000(P),3.47(T),0.0000(T),0.084,-1.018675,3.65,3.65,-0.355000,0.738000,2.160000,0.528000,0.553000,0.998000,7.1336
synonymous_variant,OTOP3,SILENT,NM_178233.2:p.Ala392Ala/c.1176G>A,gcG/gcA,LOW,COSM437353(1),0.290735,0.0655,rs8066909,,,,,,chr17,72943126,72943126,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala374Ala/c.1122G>A|578|OTOP3|protein_coding|CODING|NM_001272005.1|6|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala392Ala/c.1176G>A|596|OTOP3|protein_coding|CODING|NM_178233.2|6|1)","GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3231,0.4885,0.5109,,,,,,,,,,,,,,,,,,,
synonymous_variant,HID1,SILENT,NM_030630.2:p.Ile713Ile/c.2139T>C,atT/atC,LOW,COSM4130597(1),0.954872,1,rs17853024,,,,,,chr17,72948369,72948369,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile713Ile/c.2139T>C|788|HID1|protein_coding|CODING|NM_030630.2|17|1),"H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9407,0.9827,0.9622,0.94,0.92,0.95,,,,,,,,,,,,,,,,
synonymous_variant,HID1,SILENT,NM_030630.2:p.Thr502Thr/c.1506T>C,acT/acC,LOW,COSM4130598(1),0.920727,1,rs9906160,,,,,,chr17,72952017,72952017,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr502Thr/c.1506T>C|788|HID1|protein_coding|CODING|NM_030630.2|13|1),"HUVEC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9407,0.9683,0.9642,0.91,0.81,0.95,,,,,,,,,,,,,,,,
synonymous_variant,HID1,SILENT,NM_030630.2:p.Ala316Ala/c.948C>T,gcC/gcT,LOW,COSM4130599(1),0.244209,0.0615,rs3744198,,,,,,chr17,72956124,72956124,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala316Ala/c.948C>T|788|HID1|protein_coding|CODING|NM_030630.2|7|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2638,0.2997,0.4523,0.39,0.22,0.48,,,,,,,,,,,,,,,,
synonymous_variant,SLC16A5,SILENT,NM_001271765.1:p.Leu41Leu/c.121T>C,Ttg/Ctg,LOW,COSM1479991(2),0.625399,0.3442,rs4788863,,,,,,chr17,73089852,73089852,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu41Leu/c.121T>C|505|SLC16A5|protein_coding|CODING|NM_001271765.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu41Leu/c.121T>C|505|SLC16A5|protein_coding|CODING|NM_004695.3|3|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6881,0.6412,0.7127,0.73,0.74,0.73,,,,,,,,,,,,,,,,
synonymous_variant,NUP85,SILENT,NM_024844.3:p.Asp580Asp/c.1740C>T,gaC/gaT,LOW,,0.883986,0.9306,rs9988,,,,,,chr17,73230856,73230856,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp580Asp/c.1740C>T|656|NUP85|protein_coding|CODING|NM_024844.3|17|1),downstream_gene_variant(MODIFIER||1831||651|GGA3|protein_coding|CODING|NM_001172703.2||1),downstream_gene_variant(MODIFIER||1831||592|GGA3|protein_coding|CODING|NM_001172704.2||1),downstream_gene_variant(MODIFIER||1831||651|GGA3|protein_coding|CODING|NM_001291641.1||1),downstream_gene_variant(MODIFIER||1831||601|GGA3|protein_coding|CODING|NM_001291642.1||1),downstream_gene_variant(MODIFIER||1831||690|GGA3|protein_coding|CODING|NM_014001.4||1),downstream_gene_variant(MODIFIER||1831||723|GGA3|protein_coding|CODING|NM_138619.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9274,0.8833,0.8022,0.84,0.88,0.82,,,,,,,,,,,,,,,,
missense_variant,GGA3,MISSENSE,NM_001172704.2:p.Ala575Gly/c.1724C>G,gCg/gGg,MODERATE,,0.0177716,0,rs79858696,,,,,,chr17,73233599,73233599,G,C,het,"missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala575Gly/c.1724C>G|592|GGA3|protein_coding|CODING|NM_001172704.2|16|1),3_prime_UTR_variant(MODIFIER||761|c.*761C>G|651|GGA3|protein_coding|CODING|NM_001172703.2|17|1),3_prime_UTR_variant(MODIFIER||761|c.*761C>G|651|GGA3|protein_coding|CODING|NM_001291641.1|18|1),3_prime_UTR_variant(MODIFIER||761|c.*761C>G|601|GGA3|protein_coding|CODING|NM_001291642.1|14|1),3_prime_UTR_variant(MODIFIER||761|c.*761C>G|690|GGA3|protein_coding|CODING|NM_014001.4|16|1),3_prime_UTR_variant(MODIFIER||761|c.*761C>G|723|GGA3|protein_coding|CODING|NM_138619.3|17|1),downstream_gene_variant(MODIFIER||1745||656|NUP85|protein_coding|CODING|NM_024844.3||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0331,0.0527,,,,,,,,,,,,,,,,,,,
missense_variant,MRPS7,MISSENSE,NM_015971.3:p.Ala2Val/c.5C>T,gCt/gTt,MODERATE,COSM437370(4),0.657348,0.8284,rs8075276,0.04(D),0.013(B),2.11(M),-1.0147(T),,chr17,73257986,73257986,C,T,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala2Val/c.5C>T|242|MRPS7|protein_coding|CODING|NM_015971.3|1|1),upstream_gene_variant(MODIFIER||244||651|GGA3|protein_coding|CODING|NM_001291641.1||1),upstream_gene_variant(MODIFIER||244||601|GGA3|protein_coding|CODING|NM_001291642.1||1),upstream_gene_variant(MODIFIER||244||690|GGA3|protein_coding|CODING|NM_014001.4||1),upstream_gene_variant(MODIFIER||244||723|GGA3|protein_coding|CODING|NM_138619.3||1),intron_variant(MODIFIER|||c.-177+377G>A|651|GGA3|protein_coding|CODING|NM_001172703.2|1|1),intron_variant(MODIFIER|||c.-228+377G>A|592|GGA3|protein_coding|CODING|NM_001172704.2|1|1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H4K16ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,IMR90:H3K56ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,CD4:H4K12ac,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,HepG2:ZBTB33,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,IMR90:H3K18ac,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,CD4:H2BK12ac,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.8384,0.7867,0.7982,0.66,0.36,0.81,,0.000000(N),0.000(P),0.68(T),0.0000(T),0.18,4.883670,5.72,4.76,0.655000,1.432000,2.435000,0.754000,1.000000,1.000000,10.4562
synonymous_variant,SLC25A19,SILENT,NM_001126121.1:p.Leu273Leu/c.819G>A,ctG/ctA,LOW,,0.530152,0.8264,rs4789164,,,,,,chr17,73269676,73269676,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu273Leu/c.819G>A|320|SLC25A19|protein_coding|CODING|NM_001126121.1|8|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu273Leu/c.819G>A|320|SLC25A19|protein_coding|CODING|NM_001126122.1|7|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu273Leu/c.819G>A|320|SLC25A19|protein_coding|CODING|NM_021734.4|8|1),non_coding_exon_variant(MODIFIER|||n.2297C>T||LOC100287042||NON_CODING|NR_036520.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118371.2,,0.6258,0.67,0.6809,0.50,0.16,0.68,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A19,SILENT,NM_001126121.1:p.Tyr113Tyr/c.339T>C,taT/taC,LOW,COSM4130610(2),0.889577,0.9008,rs7213318,,,,,,chr17,73279624,73279624,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr113Tyr/c.339T>C|320|SLC25A19|protein_coding|CODING|NM_001126121.1|5|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr113Tyr/c.339T>C|320|SLC25A19|protein_coding|CODING|NM_001126122.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr113Tyr/c.339T>C|320|SLC25A19|protein_coding|CODING|NM_021734.4|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118368.2,,0.9192,0.9236,0.999,0.94,0.82,1.00,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0195,SILENT,NM_014738.4:p.Gly306Gly/c.918G>A,ggG/ggA,LOW,COSM3755842(2),0.0347444,0.001,rs34364349,,,,,,chr17,73485707,73485707,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly306Gly/c.918G>A|1356|KIAA0195|protein_coding|CODING|NM_014738.4|9|1),"CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0375,0.0755,0.05,0.04,0.06,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0195,SILENT,NM_014738.4:p.Pro461Pro/c.1383C>T,ccC/ccT,LOW,,0.0453275,0.001,rs76073955,,,,,,chr17,73487533,73487533,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro461Pro/c.1383C>T|1356|KIAA0195|protein_coding|CODING|NM_014738.4|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0432,0.0765,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0195,SILENT,NM_014738.4:p.Ile612Ile/c.1836C>T,atC/atT,LOW,COSM3755843(1),0.635783,0.4673,rs4078259,,,,,,chr17,73488794,73488794,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile612Ile/c.1836C>T|1356|KIAA0195|protein_coding|CODING|NM_014738.4|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.82,0.5706,0.8151,0.75,0.56,0.84,,,,,,,,,,,,,,,,
missense_variant,CASKIN2,MISSENSE,NM_020753.4:p.Glu891Gly/c.2672A>G,gAg/gGg,MODERATE,COSM4130616(1),0.797524,0.5159,rs7503373,0.54(T),0.0(B),-1.1(N),-1.0172(T),,chr17,73498483,73498483,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu809Gly/c.2426A>G|1120|CASKIN2|protein_coding|CODING|NM_001142643.2|17|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu891Gly/c.2672A>G|1202|CASKIN2|protein_coding|CODING|NM_020753.4|18|1),downstream_gene_variant(MODIFIER||1950||1356|KIAA0195|protein_coding|CODING|NM_014738.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8241,0.6556,0.8996,0.94,0.97,0.93,,0.008672(N),0.997(P),"0.48,0.48(T,T)",0.0000(T),0.045,-0.652527,4.87,0.576,-0.320000,-0.210000,-0.889000,0.206000,0.001000,0.000000,2.1311
synonymous_variant,CASKIN2,SILENT,NM_020753.4:p.Ser844Ser/c.2532T>C,agT/agC,LOW,COSM437382(1),0.452875,0.4415,rs7502835,,,,,,chr17,73498623,73498623,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser762Ser/c.2286T>C|1120|CASKIN2|protein_coding|CODING|NM_001142643.2|17|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser844Ser/c.2532T>C|1202|CASKIN2|protein_coding|CODING|NM_020753.4|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5859,0.5994,0.7207,0.57,0.20,0.76,,,,,,,,,,,,,,,,
missense_variant,TSEN54,MISSENSE,NM_207346.2:p.Glu4Asp/c.12G>T,gaG/gaT,MODERATE,COSM4130619(3),0.54373,0.5327,rs7216673,0.25(T),"0.001,0.0(B,B)",0.55(N),-0.9981(T),,chr17,73512653,73512653,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu4Asp/c.12G>T|526|TSEN54|protein_coding|CODING|NM_207346.2|1|1),upstream_gene_variant(MODIFIER||989||1202|CASKIN2|protein_coding|CODING|NM_020753.4||1)","HeLa-S3:Cmyc,K562:Max,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,HepG2:Nrsf,H1ESC:SP1,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,H1ESC:FOSL1,HepG2:SP1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:Gabp,H1ESC:Egr1,K562:E2F6,K562:FOSL1,HeLa-S3:PolII,HepG2:HNF4A,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HeLa-S3:Nrsf,H1ESC:Nrsf,HepG2:TAF1,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,K562:Nrsf,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,GM12878:Nrsf,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,RCV000082837.1,,0.6994,0.4467,0.6809,,,,,0.029793(N),1.000(P),0.34(T),0.0000(T),0.09,2.059824,4.45,-8.91,-0.402000,-3.282000,-2.740000,0.036000,0.000000,0.000000,9.6992
missense_variant,TSEN54,MISSENSE,NM_207346.2:p.His38Gln/c.114T>G,caT/caG,MODERATE,COSM4130620(1),0.163139,0.0298,rs8079373,0.1(T),"0.075,0.918(B,D)",0.805(L),-0.9948(T),,chr17,73512884,73512884,T,G,het,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His38Gln/c.114T>G|526|TSEN54|protein_coding|CODING|NM_207346.2|2|1),upstream_gene_variant(MODIFIER||1220||1202|CASKIN2|protein_coding|CODING|NM_020753.4||1)","K562:Max,K562:H3K4me3,HeLa-S3:DNase1,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,RCV000082835.1|RCV000125719.1,,0.1084,0.1066,0.1421,0.14,0.23,0.10,,0.002767(N),0.017(P),0.45(T),0.0000(T),0.212,3.146141,4.01,2.93,0.368000,0.724000,0.700000,0.995000,1.000000,1.000000,7.7469
synonymous_variant,TSEN54,SILENT,NM_207346.2:p.Arg111Arg/c.333C>G,cgC/cgG,LOW,,0.163139,0.0298,rs6501818,,,,,,chr17,73513289,73513289,C,G,het,"synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg111Arg/c.333C>G|526|TSEN54|protein_coding|CODING|NM_207346.2|4|1),upstream_gene_variant(MODIFIER||1625||1202|CASKIN2|protein_coding|CODING|NM_020753.4||1)","K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1084,0.1066,0.1421,0.20,0.33,0.13,,,,,,,,,,,,,,,,
missense_variant,TSEN54,MISSENSE,NM_207346.2:p.Lys347Asn/c.1041G>C,aaG/aaC,MODERATE,COSM437385(2),0.444688,0.4425,rs9911502,0.07(T),0.642(P),1.935(M),-0.9419(T),,chr17,73518203,73518203,G,C,het,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys347Asn/c.1041G>C|526|TSEN54|protein_coding|CODING|NM_207346.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.4251,0.6829,0.54,0.23,0.70,,0.000001(D),0.001(P),0.18(T),0.0000(T),0.081,2.164337,5.47,4.5,0.655000,1.299000,3.630000,0.553000,0.988000,1.000000,13.8929
synonymous_variant,TSEN54,SILENT,NM_207346.2:p.Arg374Arg/c.1122G>C,cgG/cgC,LOW,,0.814297,0.5655,rs6501820,,,,,,chr17,73518284,73518284,G,C,hom,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg374Arg/c.1122G>C|526|TSEN54|protein_coding|CODING|NM_207346.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082834.1,,0.8732,0.6383,0.8946,0.94,0.97,0.91,,,,,,,,,,,,,,,,
missense_variant,TSEN54,MISSENSE,NM_207346.2:p.Gln389Pro/c.1166A>C,cAg/cCg,MODERATE,COSM3755845(2),0.0706869,0,rs77247739,0.24(T),0.04(B),1.355(L),-1.0544(T),,chr17,73518328,73518328,A,C,het,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln389Pro/c.1166A>C|526|TSEN54|protein_coding|CODING|NM_207346.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000082836.1|RCV000125718.1,,0.0828,0.0648,0.0984,0.07,0.07,0.07,,0.770042(N),1.000(P),0.36(T),0.0031(T),0.353,-0.032674,5.47,-0.0634,0.533000,0.036000,0.306000,0.007000,0.004000,0.000000,9.9457
missense_variant,TSEN54,MISSENSE,NM_207346.2:p.Ala437Val/c.1310C>T,gCc/gTc,MODERATE,,0.561302,0.4415,rs8064529,0.32(T),0.118(B),1.7(L),-0.9206(T),,chr17,73519413,73519413,C,T,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala437Val/c.1310C>T|526|TSEN54|protein_coding|CODING|NM_207346.2|9|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6442,0.4597,0.6839,0.66,0.58,0.70,,0.182635(N),1.000(P),-0.1(T),0.0000(T),0.02,1.205751,5.23,0.513,0.655000,0.259000,0.335000,0.801000,0.153000,0.108000,5.7478
missense_variant,LLGL2,MISSENSE,NM_001031803.1:p.Arg45His/c.134G>A,cGc/cAc,MODERATE,COSM3755847(2),0.409145,0.4683,rs1671036,0.1(T),"0.031,0.004,0.008(B,B,B)",0.895(L),-0.9215(T),,chr17,73552185,73552185,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg45His/c.134G>A|356|LLGL2|protein_coding|CODING|NM_001015002.1|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg45His/c.134G>A|1020|LLGL2|protein_coding|CODING|NM_001031803.1|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg45His/c.134G>A|1015|LLGL2|protein_coding|CODING|NM_004524.2|3|1)",HepG2:H3K36me3,,,,0.6094,0.379,0.5606,0.42,0.18,0.55,,0.013740(N),0.872(P),"1.47,1.47,-0.16(T,T,T)",0.0000(T),0.192,0.712073,4.54,3.58,0.462000,1.146000,1.330000,0.012000,0.990000,0.752000,9.6078
synonymous_variant,LLGL2,SILENT,NM_001031803.1:p.Asp241Asp/c.723C>T,gaC/gaT,LOW,COSM3755849(1),0.014377,0,rs34158736,,,,,,chr17,73559441,73559441,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp241Asp/c.723C>T|356|LLGL2|protein_coding|CODING|NM_001015002.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp241Asp/c.723C>T|1020|LLGL2|protein_coding|CODING|NM_001031803.1|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp241Asp/c.723C>T|1015|LLGL2|protein_coding|CODING|NM_004524.2|8|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0082,0.0101,0.0477,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,LLGL2,MISSENSE,NM_001031803.1:p.Phe479Leu/c.1435T>C,Ttc/Ctc,MODERATE,,0.464856,0.2639,rs1671021,0.47(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.92(N),-1.0187(T),,chr17,73565171,73565171,T,C,het,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe479Leu/c.1435T>C|1020|LLGL2|protein_coding|CODING|NM_001031803.1|13|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe479Leu/c.1435T>C|1015|LLGL2|protein_coding|CODING|NM_004524.2|13|1)","H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2587,0.3372,0.3738,0.53,0.82,0.39,,0.000140(N),0.000(P),"2.97,2.97(T,T)",0.0000(T),0.101,1.409361,5.29,4.33,-0.222000,0.637000,2.038000,0.404000,0.896000,1.000000,2.7305
missense_variant,LLGL2,MISSENSE,NM_001031803.1:p.Pro759Ser/c.2275C>T,Cct/Tct,MODERATE,COSM1480007(5),0.309904,0.1508,rs1661715,0.24(T),"0.166,0.313,0.015,0.004(B,B,B,B)",1.79(L),-1.0822(T),,chr17,73567846,73567846,C,T,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro759Ser/c.2275C>T|1020|LLGL2|protein_coding|CODING|NM_001031803.1|18|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro759Ser/c.2275C>T|1015|LLGL2|protein_coding|CODING|NM_004524.2|18|1)","H1ESC:H3K36me3,GM12878:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM12878:H3K9ac,GM06990:DNase1,GM12878:H2AZ",,,,0.1687,0.2435,0.2823,0.38,0.55,0.30,,0.000100(D),0.000(P),"3.14,3.26(T,T)",0.0000(T),0.19,2.039977,5.4,4.41,0.549000,1.245000,2.448000,0.932000,0.840000,0.854000,10.9596
missense_variant,LLGL2,MISSENSE,NM_004524.2:p.Pro994Arg/c.2981C>G,cCg/cGg,MODERATE,,0.315296,0.1508,rs1126939,0(D),"0.0,0.0(B,B)",,-1.0421(T),,chr17,73570718,73570718,C,G,het,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro994Arg/c.2981C>G|1015|LLGL2|protein_coding|CODING|NM_004524.2|24|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala1008Ala/c.3024C>G|1020|LLGL2|protein_coding|CODING|NM_001031803.1|25|1)","H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1687,0.245,0.2823,0.39,0.58,0.29,,,1.000(P),3.53(T),0.0000(T),.,0.903015,4.66,0.0224,-0.293000,-0.271000,-0.116000,0.271000,0.000000,0.000000,4.422
synonymous_variant,RECQL5,SILENT,NM_004259.6:p.Ser739Ser/c.2217C>T,agC/agT,LOW,,0.228435,0.1577,rs820190,,,,,,chr17,73625286,73625286,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser739Ser/c.2217C>T|991|RECQL5|protein_coding|CODING|NM_004259.6|16|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1994,0.2118,0.3439,0.29,0.22,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RECQL5,SILENT,NM_004259.6:p.His691His/c.2073C>T,caC/caT,LOW,COSM3755854(3),0.525958,0.8085,rs4788902,,,,,,chr17,73625430,73625430,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His691His/c.2073C>T|991|RECQL5|protein_coding|CODING|NM_004259.6|16|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5869,0.647,0.6024,0.48,0.20,0.60,,,,,,,,,,,,,,,,
synonymous_variant,RECQL5,SILENT,NM_004259.6:p.Thr675Thr/c.2025A>G,acA/acG,LOW,COSM4130629(1),0.989217,1,rs820191,,,,,,chr17,73625478,73625478,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr675Thr/c.2025A>G|991|RECQL5|protein_coding|CODING|NM_004259.6|16|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,RECQL5,MISSENSE,NM_004259.6:p.Asp480Gly/c.1439A>G,gAc/gGc,MODERATE,,0.265775,0.2758,rs820196,0.53(T),"0.0,0.0(B,B)",-1.37(N),-1.0186(T),,chr17,73627539,73627539,T,C,het,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp480Gly/c.1439A>G|991|RECQL5|protein_coding|CODING|NM_004259.6|9|1),upstream_gene_variant(MODIFIER||1975||77|SMIM5|protein_coding|CODING|NM_001162995.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.3112,0.2445,0.20,0.17,0.22,,0.000031(N),0.000(P),0.47(T),0.0000(T),0.274,3.125715,5.97,5.97,-0.119000,1.555000,2.326000,0.921000,1.000000,1.000000,12.407
synonymous_variant,RECQL5,SILENT,NM_004259.6:p.Tyr471Tyr/c.1413T>C,taT/taC,LOW,COSM4130630(1),0.988618,1,rs820197,,,,,,chr17,73627565,73627565,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr471Tyr/c.1413T>C|991|RECQL5|protein_coding|CODING|NM_004259.6|9|1),upstream_gene_variant(MODIFIER||1949||77|SMIM5|protein_coding|CODING|NM_001162995.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9942,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ITGB4,SILENT,NM_000213.3:p.Pro1507Pro/c.4521C>G,ccC/ccG,LOW,COSM3755857(1),0.377196,0.5149,rs8669,,,,,,chr17,73750859,73750859,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1507Pro/c.4521C>G|1822|ITGB4|protein_coding|CODING|NM_000213.3|34|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1437Pro/c.4311C>G|1805|ITGB4|protein_coding|CODING|NM_001005619.1|32|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1437Pro/c.4311C>G|1752|ITGB4|protein_coding|CODING|NM_001005731.1|33|1)","K562:Max,HepG2:H3K4me2,K562:PolII,NHEK:PolII,K562:H3K4me1,HMEC:H3K36me3,H1ESC:H3K27me3,HepG2:PolII,HepG2:HNF4G,HepG2:HEY1,K562:Cmyc,CD4:H2BK5me1,K562:E2F6,HepG2:HNF4A,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:TAF1,HepG2:DNase1,NHEK:DNase1,HepG2:Cmyc,K562:DNase1",,,,0.4898,0.4539,0.4732,0.37,0.15,0.48,,,,,,,,,,,,,,,,
missense_variant,ITGB4,MISSENSE,NM_000213.3:p.Leu1779Pro/c.5336T>C,cTg/cCg,MODERATE,COSM3722197(1),0.571486,0.631,rs871443,0.11(T),"0.958,0.827,0.827(D,P,P)",1.79(L),-0.9267(T),,chr17,73753503,73753503,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1779Pro/c.5336T>C|1822|ITGB4|protein_coding|CODING|NM_000213.3|40|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1762Pro/c.5285T>C|1805|ITGB4|protein_coding|CODING|NM_001005619.1|39|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu1709Pro/c.5126T>C|1752|ITGB4|protein_coding|CODING|NM_001005731.1|39|1),downstream_gene_variant(MODIFIER||515||392|GALK1|protein_coding|CODING|NM_000154.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.7249,0.7594,0.7863,0.60,0.28,0.77,,0.002382(N),0.000(P),"-1.24,-1.14,-1.14(T,T,T)",0.0000(T),0.524,1.061595,4.17,4.17,0.379000,1.534000,4.795000,0.555000,0.545000,1.000000,13.2212
synonymous_variant,UNK,SILENT,NM_001080419.2:p.Pro340Pro/c.1020A>G,ccA/ccG,LOW,COSM3755860(1),0.823283,0.6161,rs9908146,,,,,,chr17,73812909,73812909,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro340Pro/c.1020A>G|810|UNK|protein_coding|CODING|NM_001080419.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9274,0.9164,0.9622,0.90,0.79,0.95,,,,,,,,,,,,,,,,
synonymous_variant,UNK,SILENT,NM_001080419.2:p.Ala558Ala/c.1674A>G,gcA/gcG,LOW,COSM3755862(2),0.864816,0.6954,rs11868471,,,,,,chr17,73816026,73816026,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala558Ala/c.1674A>G|810|UNK|protein_coding|CODING|NM_001080419.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.9305,0.9193,0.9602,0.92,0.86,0.96,,,,,,,,,,,,,,,,
missense_variant,ACOX1,MISSENSE,NM_004035.6:p.Ile312Met/c.936C>G,atC/atG,MODERATE,COSM3755874(2),0.550719,0.7877,rs1135640,0.21(T),"0.004,0.004,0.002,0.004(B,B,B,B)",0.855(L),-0.9144(T),,chr17,73949540,73949540,G,C,hom,"missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile274Met/c.822C>G|622|ACOX1|protein_coding|CODING|NM_001185039.1|7|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile312Met/c.936C>G|660|ACOX1|protein_coding|CODING|NM_004035.6|7|1),missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile312Met/c.936C>G|660|ACOX1|protein_coding|CODING|NM_007292.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6575,0.6729,0.6402,0.51,0.23,0.65,,0.000111(D),0.002(P),"-0.47,-0.47,-0.47(T,T,T)",0.0000(T),0.251,2.156848,6.17,5.2,0.655000,2.941000,1.086000,0.997000,1.000000,1.000000,7.546
synonymous_variant,EVPL,SILENT,NM_001988.2:p.His446His/c.1338C>T,caC/caT,LOW,COSM3746456(3),0.500799,0.751,rs2071193,,,,,,chr17,74014628,74014628,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His446His/c.1338C>T|2033|EVPL|protein_coding|CODING|NM_001988.2|12|1),"GM06990:H3K27me3,H1ESC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5389,0.4885,0.4006,0.42,0.41,0.43,,,,,,,,,,,,,,,,
missense_variant,EVPL,MISSENSE,NM_001988.2:p.Gln433Arg/c.1298A>G,cAg/cGg,MODERATE,COSM3755881(1),0.675919,0.755,rs2071192,1(T),"0.0,0.0(B,B)",-2.045(N),-0.9225(T),,chr17,74014668,74014668,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln433Arg/c.1298A>G|2033|EVPL|protein_coding|CODING|NM_001988.2|12|1),"GM06990:H3K27me3,H1ESC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7474,0.6326,0.6193,0.64,0.64,0.65,,0.000020(N),1.000(P),0.49(T),0.0000(T),0.043,-1.969808,5.12,0.862,-0.930000,-0.158000,0.965000,0.039000,0.082000,0.000000,10.6638
missense_variant,EVPL,MISSENSE,NM_001988.2:p.Arg336Ser/c.1006C>A,Cgc/Agc,MODERATE,COSM1130157(5),,,rs74955334,0.11(T),"0.013,0.006(B,B)",1.95(M),-1.0029(T),,chr17,74017554,74017554,G,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg336Ser/c.1006C>A|2033|EVPL|protein_coding|CODING|NM_001988.2|9|1),"HUVEC:H3K27me3,H1ESC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,0.105333(N),0.413(P),1.56(T),0.0703(T),0.291,2.586746,4.5,3.51,0.563000,1.018000,1.629000,0.961000,0.881000,0.006000,6.9071
synonymous_variant,EVPL,SILENT,NM_001988.2:p.Leu329Leu/c.987G>C,ctG/ctC,LOW,COSM127911(4),,,rs78569674,,,,,,chr17,74017573,74017573,C,G,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu329Leu/c.987G>C|2033|EVPL|protein_coding|CODING|NM_001988.2|9|1),"HUVEC:H3K27me3,H1ESC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,EVPL,SILENT,NM_001988.2:p.Cys322Cys/c.966T>C,tgT/tgC,LOW,COSM1750328(3),,,rs193119748,,,,,,chr17,74017594,74017594,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys322Cys/c.966T>C|2033|EVPL|protein_coding|CODING|NM_001988.2|9|1),"HUVEC:H3K27me3,H1ESC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,EVPL,SILENT,NM_001988.2:p.Ser278Ser/c.834C>T,agC/agT,LOW,COSM4069771(1),0.00738818,0,rs148449976,,,,,,chr17,74017836,74017836,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser278Ser/c.834C>T|2033|EVPL|protein_coding|CODING|NM_001988.2|8|1),"HUVEC:H3K27me3,H1ESC:DNase1,K562:E2F6,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.001,0,0,0.01,0.03,0.00,,,,,,,,,,,,,,,,
synonymous_variant,SRP68,SILENT,NM_014230.3:p.Glu271Glu/c.813G>A,gaG/gaA,LOW,COSM3755882(1),0.553914,0.4722,rs2665998,,,,,,chr17,74056413,74056413,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu233Glu/c.699G>A|589|SRP68|protein_coding|CODING|NM_001260502.1|6|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu271Glu/c.813G>A|627|SRP68|protein_coding|CODING|NM_014230.3|7|1),non_coding_exon_variant(MODIFIER|||n.744G>A||SRP68||CODING|NR_048541.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2914,0.5764,0.3926,0.55,0.82,0.40,,,,,,,,,,,,,,,,
missense_variant,ZACN,MISSENSE,NM_180990.3:p.Ala152Thr/c.454G>A,Gcc/Acc,MODERATE,,0.605032,0.5188,rs2257020,0.32(T),0.0(B),-2.14(N),-0.9149(T),,chr17,74076415,74076415,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala152Thr/c.454G>A|412|ZACN|protein_coding|CODING|NM_180990.3|5|1),downstream_gene_variant(MODIFIER||659||684|EXOC7|protein_coding|CODING|NM_001013839.3||1),downstream_gene_variant(MODIFIER||659||735|EXOC7|protein_coding|CODING|NM_001145297.3||1),downstream_gene_variant(MODIFIER||659||676|EXOC7|protein_coding|CODING|NM_001145298.3||1),downstream_gene_variant(MODIFIER||659||707|EXOC7|protein_coding|CODING|NM_001145299.3||1),downstream_gene_variant(MODIFIER||659||656|EXOC7|protein_coding|CODING|NM_001282313.1||1),downstream_gene_variant(MODIFIER||659||653|EXOC7|protein_coding|CODING|NM_015219.4||1)","H1ESC:PolII,K562:PolII,HUVEC:H3K27me3,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.7209,0.4856,0.6173,0.61,0.63,0.61,,0.000582(N),0.000(P),-1.12(T),0.0000(T),0.049,1.521398,4.6,4.6,-0.254000,0.804000,0.920000,0.775000,0.993000,0.954000,8.0886
synonymous_variant,RNF157,SILENT,NM_052916.2:p.Tyr118Tyr/c.354C>T,taC/taT,LOW,COSM3755884(1),0.196486,0.1399,rs2289603,,,,,,chr17,74163821,74163821,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr118Tyr/c.354C>T|679|RNF157|protein_coding|CODING|NM_052916.2|4|1),"HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2444,0.2334,0.1819,0.19,0.20,0.19,,,,,,,,,,,,,,,,
synonymous_variant,UBALD2,SILENT,NM_182565.3:p.Leu31Leu/c.91T>C,Ttg/Ctg,LOW,COSM3749416(11),0.714457,0.7024,rs2585751,,,,,,chr17,74261677,74261677,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu31Leu/c.91T>C|164|UBALD2|protein_coding|CODING|NM_182565.3|1|1),"NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HUVEC:H3K9ac,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,GM12878:TAF1,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.7137,0.6412,0.5547,0.67,0.84,0.58,,,,,,,,,,,,,,,,
missense_variant,SPHK1,MISSENSE,NM_182965.2:p.Ala30Thr/c.88G>A,Gcc/Acc,MODERATE,COSM1324836(11),0.253994,0.1935,rs2247856,0.34(T),0.006(B),,-0.9055(T),,chr17,74381555,74381555,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala30Thr/c.88G>A|470|SPHK1|protein_coding|CODING|NM_182965.2|2|1),5_prime_UTR_variant(MODIFIER||171|c.-171G>A|384|SPHK1|protein_coding|CODING|NM_001142602.1|1|1),5_prime_UTR_variant(MODIFIER||171|c.-171G>A|384|SPHK1|protein_coding|CODING|NM_001142601.1|2|1),5_prime_UTR_variant(MODIFIER||171|c.-171G>A|398|SPHK1|protein_coding|CODING|NM_021972.3|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:E2F6,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.3108,0.3934,0.4473,0.31,0.08,0.41,,0.133237(N),0.061(P),1.8(T),0.0000(T),0.064,2.673696,5.03,1.8,0.462000,0.499000,0.087000,0.366000,0.944000,0.003000,6.4808
missense_variant,SPHK1,MISSENSE,NM_182965.2:p.Ala34Thr/c.100G>A,Gca/Aca,MODERATE,COSM3749417(13),0.902157,0.999,rs346803,1(T),0.004(B),,-0.9727(T),,chr17,74381567,74381567,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala34Thr/c.100G>A|470|SPHK1|protein_coding|CODING|NM_182965.2|2|1),5_prime_UTR_variant(MODIFIER||159|c.-159G>A|384|SPHK1|protein_coding|CODING|NM_001142602.1|1|1),5_prime_UTR_variant(MODIFIER||159|c.-159G>A|384|SPHK1|protein_coding|CODING|NM_001142601.1|2|1),5_prime_UTR_variant(MODIFIER||159|c.-159G>A|398|SPHK1|protein_coding|CODING|NM_021972.3|2|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:E2F6,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9387,0.9121,0.8608,0.90,0.89,0.90,,0.416069(N),0.947(P),1.96(T),0.0000(T),0.013,-0.670939,5.03,-4.9,-1.390000,-0.610000,-0.563000,0.023000,0.001000,0.000000,10.3621
synonymous_variant,SPHK1,SILENT,NM_182965.2:p.Ser449Ser/c.1347C>T,agC/agT,LOW,COSM3932740(1),0.0988419,0.1111,rs346802,,,,,,chr17,74383601,74383601,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser363Ser/c.1089C>T|384|SPHK1|protein_coding|CODING|NM_001142601.1|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser363Ser/c.1089C>T|384|SPHK1|protein_coding|CODING|NM_001142602.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser377Ser/c.1131C>T|398|SPHK1|protein_coding|CODING|NM_021972.3|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser449Ser/c.1347C>T|470|SPHK1|protein_coding|CODING|NM_182965.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1339,0.1124,0.0487,0.05,0.08,0.03,,,,,,,,,,,,,,,,
missense_variant,UBE2O,MISSENSE,NM_022066.3:p.Gly1207Ser/c.3619G>A,Ggc/Agc,MODERATE,COSM4130659(1),0.390176,0.3839,rs3803739,0.77(T),0.098(B),1.1(L),-0.9777(T),,chr17,74387284,74387284,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1207Ser/c.3619G>A|1292|UBE2O|protein_coding|CODING|NM_022066.3|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5256,0.4755,0.5865,0.46,0.19,0.59,,0.446151(N),0.045(P),-0.73(T),0.0000(T),0.146,2.861116,4.6,3.61,0.651000,1.126000,2.578000,0.801000,0.993000,0.924000,14.0198
missense_variant,RHBDF2,MISSENSE,NM_024599.5:p.Pro208Leu/c.623C>T,cCg/cTg,MODERATE,COSM437441(2),0.765176,0.9226,rs3744045,0.11(T),"0.125,0.141(B,B)",1.935(M),-1.0417(T),,chr17,74475024,74475024,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro179Leu/c.536C>T|827|RHBDF2|protein_coding|CODING|NM_001005498.3|5|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro208Leu/c.623C>T|856|RHBDF2|protein_coding|CODING|NM_024599.5|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8323,0.8646,0.9245,0.80,0.51,0.94,,0.000003(N),0.000(P),"-0.18,-0.18(T,T)",0.0000(T),0.099,2.063869,5.55,4.57,0.455000,1.328000,6.857000,0.090000,0.602000,1.000000,14.2479
missense_variant,RHBDF2,MISSENSE,NM_024599.5:p.Ala67Ser/c.199G>T,Gca/Tca,MODERATE,COSM3755895(1),0.45627,0.6052,rs3809694,0.45(T),0.004(B),0(N),-0.9477(T),,chr17,74475975,74475975,C,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala67Ser/c.199G>T|856|RHBDF2|protein_coding|CODING|NM_024599.5|4|1),intron_variant(MODIFIER|||c.151-39G>T|827|RHBDF2|protein_coding|CODING|NM_001005498.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4755,0.5764,0.4652,0.40,0.29,0.46,,0.038673(N),1.000(P),0.56(T),0.0000(T),0.042,0.856677,4.23,-2.03,-0.955000,-0.407000,-0.503000,0.004000,0.000000,0.002000,10.8665
synonymous_variant,SRSF2,SILENT,NM_003016.4:p.Ser134Ser/c.402T>C,agT/agC,LOW,COSM4130675(1),0.990615,1,rs237058,0.56(T),,,-0.9621(T),,chr17,74732507,74732507,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser134Ser/c.402T>C|221|SRSF2|protein_coding|CODING|NM_003016.4|2|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser134Ser/c.402T>C|221|SRSF2|protein_coding|CODING|NM_001195427.1|2|1),upstream_gene_variant(MODIFIER||140||449|MFSD11|protein_coding|CODING|NM_001242534.1||1),upstream_gene_variant(MODIFIER||1076||449|MFSD11|protein_coding|CODING|NM_001242532.1||1),upstream_gene_variant(MODIFIER||1076||449|MFSD11|protein_coding|CODING|NM_001242533.1||1),upstream_gene_variant(MODIFIER||1076||449|MFSD11|protein_coding|CODING|NM_001242535.1||1),upstream_gene_variant(MODIFIER||1076||397|MFSD11|protein_coding|CODING|NM_001242536.1||1),upstream_gene_variant(MODIFIER||1076||397|MFSD11|protein_coding|CODING|NM_001242537.1||1),upstream_gene_variant(MODIFIER||1076||449|MFSD11|protein_coding|CODING|NM_024311.3||1),downstream_gene_variant(MODIFIER||25|||MIR636||NON_CODING|NR_030366.1||1),non_coding_exon_variant(MODIFIER|||n.653T>C||SRSF2||CODING|NR_036608.1|2|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,K562:CTCF,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:MOF,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,HMEC:CTCF,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K36me3,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,K562:E2F4,GM12878:Sin3Ak20",,,,1,0.9914,1,0.99,0.97,1.00,,,0.000(P),,0.0000(T),.,1.816363,4.81,-0.491,-0.971000,-0.179000,2.679000,0.718000,0.501000,1.000000,11.1195
synonymous_variant,SRSF2,SILENT,NM_001195427.1:p.Asp48Asp/c.144C>T,gaC/gaT,LOW,,0.785543,0.9157,rs237057,,,,,,chr17,74733099,74733099,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp48Asp/c.144C>T|221|SRSF2|protein_coding|CODING|NM_001195427.1|1|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp48Asp/c.144C>T|221|SRSF2|protein_coding|CODING|NM_003016.4|1|1),5_prime_UTR_variant(MODIFIER||1336|c.-146G>A|449|MFSD11|protein_coding|CODING|NM_001242534.1|1|1),upstream_gene_variant(MODIFIER||484||449|MFSD11|protein_coding|CODING|NM_001242532.1||1),upstream_gene_variant(MODIFIER||484||449|MFSD11|protein_coding|CODING|NM_001242533.1||1),upstream_gene_variant(MODIFIER||484||449|MFSD11|protein_coding|CODING|NM_001242535.1||1),upstream_gene_variant(MODIFIER||484||397|MFSD11|protein_coding|CODING|NM_001242536.1||1),upstream_gene_variant(MODIFIER||484||397|MFSD11|protein_coding|CODING|NM_001242537.1||1),upstream_gene_variant(MODIFIER||484||449|MFSD11|protein_coding|CODING|NM_024311.3||1),upstream_gene_variant(MODIFIER||469|||MIR636||NON_CODING|NR_030366.1||1),non_coding_exon_variant(MODIFIER|||n.395C>T||SRSF2||CODING|NR_036608.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,IMR90:H2AK5ac,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K36me3,HepG2:TAF1,K562:H3K79me2,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:E2F4",,,,0.9264,0.9049,0.9145,0.80,0.53,0.93,,,,,,,,,,,,,,,,
synonymous_variant,MGAT5B,SILENT,NM_198955.1:p.Arg361Arg/c.1083G>C,cgG/cgC,LOW,COSM3755902(2),0.217053,0.1677,rs3889145,,,,,,chr17,74921072,74921072,G,C,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg350Arg/c.1050G>C|792|MGAT5B|protein_coding|CODING|NM_001199172.1|9|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg350Arg/c.1050G>C|790|MGAT5B|protein_coding|CODING|NM_144677.2|9|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg361Arg/c.1083G>C|801|MGAT5B|protein_coding|CODING|NM_198955.1|8|1)","H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3211,0.1988,0.2157,0.22,0.19,0.23,,,,,,,,,,,,,,,,
synonymous_variant,MGAT5B,SILENT,NM_198955.1:p.Ser730Ser/c.2190C>T,agC/agT,LOW,COSM3755908(1),0.0686901,0,rs71384132,,,,,,chr17,74944151,74944151,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser721Ser/c.2163C>T|792|MGAT5B|protein_coding|CODING|NM_001199172.1|16|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser719Ser/c.2157C>T|790|MGAT5B|protein_coding|CODING|NM_144677.2|16|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser730Ser/c.2190C>T|801|MGAT5B|protein_coding|CODING|NM_198955.1|15|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1186,0.0922,0.1034,0.10,0.06,0.12,,,,,,,,,,,,,,,,
missense_variant,SEC14L1,MISSENSE,NM_001039573.2:p.Thr188Pro/c.562A>C,Acc/Ccc,MODERATE,,0.988019,1,rs673918,0.71(T),"0.003,0.001(B,B)",-1.59(N),-0.9766(T),,chr17,75190846,75190846,A,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr188Pro/c.562A>C|719|SEC14L1|protein_coding|CODING|NM_001039573.2|7|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr188Pro/c.562A>C|715|SEC14L1|protein_coding|CODING|NM_001143998.1|7|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr188Pro/c.562A>C|715|SEC14L1|protein_coding|CODING|NM_001143999.1|7|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr154Pro/c.460A>C|681|SEC14L1|protein_coding|CODING|NM_001144001.1|5|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr188Pro/c.562A>C|719|SEC14L1|protein_coding|CODING|NM_001204408.1|9|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr188Pro/c.562A>C|715|SEC14L1|protein_coding|CODING|NM_001204410.1|8|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr188Pro/c.562A>C|715|SEC14L1|protein_coding|CODING|NM_003003.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.96,1.00,,0.048055(N),1.000(P),"-0.41,-0.41,-0.41,-0.41,-0.41,-0.52(T,T,T,T,T,T)",0.0000(T),0.093,0.107249,5.31,1.8,-0.121000,0.617000,0.839000,0.175000,0.452000,0.001000,2.2293
synonymous_variant,SEC14L1,SILENT,NM_001039573.2:p.Ser226Ser/c.678C>T,agC/agT,LOW,COSM4130680(1),0.358227,0.3433,rs674402,,,,,,chr17,75190962,75190962,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser226Ser/c.678C>T|719|SEC14L1|protein_coding|CODING|NM_001039573.2|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser226Ser/c.678C>T|715|SEC14L1|protein_coding|CODING|NM_001143998.1|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser226Ser/c.678C>T|715|SEC14L1|protein_coding|CODING|NM_001143999.1|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser192Ser/c.576C>T|681|SEC14L1|protein_coding|CODING|NM_001144001.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser226Ser/c.678C>T|719|SEC14L1|protein_coding|CODING|NM_001204408.1|9|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser226Ser/c.678C>T|715|SEC14L1|protein_coding|CODING|NM_001204410.1|8|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser226Ser/c.678C>T|715|SEC14L1|protein_coding|CODING|NM_003003.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4642,0.3329,0.3559,0.35,0.32,0.37,,,,,,,,,,,,,,,,
missense_variant,SEPT9,MISSENSE,NM_001113491.1:p.Pro145Leu/c.434C>T,cCg/cTg,MODERATE,COSM3755914(1),0.0497204,0.0119,rs34587622,0.06(T),"0.007,0.167,0.236,0.119(B,B,B,B)",1.04(L),-1.0493(T),,chr17,75398498,75398498,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro145Leu/c.434C>T|586|SEPT9|protein_coding|CODING|NM_001113491.1|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro138Leu/c.413C>T|579|SEPT9|protein_coding|CODING|NM_001113493.1|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro126Leu/c.377C>T|567|SEPT9|protein_coding|CODING|NM_001293695.1|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro127Leu/c.380C>T|568|SEPT9|protein_coding|CODING|NM_006640.4|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||422|SEPT9|protein_coding|CODING|NM_001113492.1|3|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||422|SEPT9|protein_coding|CODING|NM_001113494.1|2|1),5_prime_UTR_variant(MODIFIER||59|c.-59C>T|422|SEPT9|protein_coding|CODING|NM_001113492.1|3|1),5_prime_UTR_variant(MODIFIER||59|c.-59C>T|422|SEPT9|protein_coding|CODING|NM_001113494.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0501,0.085,0.1163,0.08,0.02,0.11,,0.492427(N),0.000(P),"1.42,1.43,1.42(T,T,T)",0.0016(T),0.147,2.054286,5.25,4.28,0.561000,1.204000,2.152000,0.016000,0.323000,0.960000,12.6714
missense_variant,SEPT9,MISSENSE,NM_001113491.1:p.Met576Val/c.1726A>G,Atg/Gtg,MODERATE,COSM4130688(1),0.90655,1,rs2627223,1(T),"0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B)",-1.78(N),-0.9656(T),,chr17,75494705,75494705,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met576Val/c.1726A>G|586|SEPT9|protein_coding|CODING|NM_001113491.1|12|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met412Val/c.1234A>G|422|SEPT9|protein_coding|CODING|NM_001113492.1|12|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met569Val/c.1705A>G|579|SEPT9|protein_coding|CODING|NM_001113493.1|11|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met412Val/c.1234A>G|422|SEPT9|protein_coding|CODING|NM_001113494.1|11|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met464Val/c.1390A>G|474|SEPT9|protein_coding|CODING|NM_001113495.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met325Val/c.973A>G|335|SEPT9|protein_coding|CODING|NM_001113496.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met557Val/c.1669A>G|567|SEPT9|protein_coding|CODING|NM_001293695.1|11|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met352Val/c.1054A>G|362|SEPT9|protein_coding|CODING|NM_001293696.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met325Val/c.973A>G|335|SEPT9|protein_coding|CODING|NM_001293697.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met325Val/c.973A>G|335|SEPT9|protein_coding|CODING|NM_001293698.1|10|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met558Val/c.1672A>G|568|SEPT9|protein_coding|CODING|NM_006640.4|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9703,0.928,0.9364,0.89,0.80,0.94,,0.337153(N),1.000(P),"1.55,1.1,1.55,1.55,1.1,1.02(T,T,T,T,T,T)",0.0000(T),0.02,-1.536766,3.77,2.77,-0.433000,0.113000,0.038000,0.513000,0.862000,0.000000,6.8959
missense_variant,TMC8,MISSENSE,NM_152468.4:p.Asn306Ile/c.917A>T,aAc/aTc,MODERATE,,0.552316,0.4236,rs386503939,0.56(T),"0.0,0.0(B,B)",-2.075(N),-0.9407(T),,chr17,76130575,76130575,A,T,het,missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn306Ile/c.917A>T|726|TMC8|protein_coding|CODING|NM_152468.4|8|1),"NHEK:CTCF,HeLa-S3:DNase1,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,K562:Cmyc,HMEC:CTCF,NHEK:H3K27me3,GM12878:PolII,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,CD4:PolII,HepG2:DNase1,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.5072,0.5879,0.4901,0.56,0.69,0.49,,0.000458(N),1.000(P),0.26(T),0.0000(T),0.093,-1.051025,4.71,4.71,-0.364000,0.657000,1.351000,0.095000,0.724000,0.917000,9.0321
synonymous_variant,TMC8,SILENT,NM_152468.4:p.Glu369Glu/c.1107G>A,gaG/gaA,LOW,,0.540335,0.3938,rs12452890,,,,,,chr17,76131070,76131070,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu369Glu/c.1107G>A|726|TMC8|protein_coding|CODING|NM_152468.4|9|1),"GM12878:H3K27ac,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.3947,0.6268,0.5288,0.58,0.69,0.52,,,,,,,,,,,,,,,,
missense_variant,C17orf99,MISSENSE,NM_001163075.1:p.Trp101Arg/c.301T>C,Tgg/Cgg,MODERATE,COSM1386395(1),0.751398,0.6677,rs4071641,1(T),0.0(B),-0.345(N),-0.9739(T),,chr17,76157266,76157266,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp101Arg/c.301T>C|265|C17orf99|protein_coding|CODING|NM_001163075.1|3|1),"GM12878:H3K27ac,GM12878:H3K4me1",,,,0.7658,0.7781,0.5417,,,,,0.774238(N),1.000(P),1.09(T),0.0000(T),0.024,-2.731912,3.97,1.89,-1.741000,0.279000,-0.048000,0.011000,0.453000,0.048000,7.0203
synonymous_variant,C17orf99,SILENT,NM_001163075.1:p.Ala102Ala/c.306G>A,gcG/gcA,LOW,COSM1386396(1),0.1248,0.2937,rs72898212,,,,,,chr17,76157271,76157271,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala102Ala/c.306G>A|265|C17orf99|protein_coding|CODING|NM_001163075.1|3|1),"GM12878:H3K27ac,GM12878:H3K4me1",,,,0.1892,0.085,0.0666,0.05,0.02,0.06,,,,,,,,,,,,,,,,
synonymous_variant,TK1,SILENT,NM_003258.4:p.Ala75Ala/c.225A>G,gcA/gcG,LOW,COSM148352(2),0.682109,0.622,rs1143697,,,,,,chr17,76178748,76178748,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala75Ala/c.225A>G|234|TK1|protein_coding|CODING|NM_003258.4|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7352,0.6686,0.4523,0.57,0.82,0.44,,,,,,,,,,,,,,,,
synonymous_variant,TK1,SILENT,NM_003258.4:p.Pro11Pro/c.33T>C,ccT/ccC,LOW,,0.553115,0.5873,rs1071664,,,,,,chr17,76183043,76183043,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro11Pro/c.33T>C|234|TK1|protein_coding|CODING|NM_003258.4|1|1),upstream_gene_variant(MODIFIER||355||303|AFMID|protein_coding|CODING|NM_001010982.4||1),upstream_gene_variant(MODIFIER||355||308|AFMID|protein_coding|CODING|NM_001145526.2||1),upstream_gene_variant(MODIFIER||355|||AFMID||CODING|NR_027083.1||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,H1ESC:H3K36me3,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:SP1,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:GTF2B,GM12878:ZEB1,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:E2F4,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,HeLa-S3:Cfos,GM12878:Cfos,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.4305,0.611,0.3569,0.46,0.68,0.36,,,,,,,,,,,,,,,,
missense_variant,BIRC5,MISSENSE,NM_001012271.1:p.Glu152Lys/c.454G>A,Gag/Aag,MODERATE,,0.929113,0.7728,rs2071214,1(T),"0.0,0.001(B,B)",,-0.9857(T),,chr17,76219591,76219591,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu152Lys/c.454G>A|165|BIRC5|protein_coding|CODING|NM_001012271.1|5|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu129Lys/c.385G>A|142|BIRC5|protein_coding|CODING|NM_001168.2|4|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg89Arg/c.267G>A|137|BIRC5|protein_coding|CODING|NM_001012270.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",Behavioural_disinhibition_generation_interaction,,,0.9642,0.9395,0.9533,0.97,0.99,0.95,,0.069864(N),1.000(P),"3.82,3.82(T,T)",0.0000(T),0.057,-1.103854,5.37,0.406,-0.360000,-0.529000,-0.112000,0.359000,0.002000,0.001000,4.6546
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Tyr4227Tyr/c.12681C>T,taC/taT,LOW,COSM3755927(1),0.684505,0.9425,rs2271613,,,,,,chr17,76423097,76423097,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr4227Tyr/c.12681C>T|4462|DNAH17|protein_coding|CODING|NM_173628.3|78|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7526,0.755,0.7167,0.62,0.43,0.72,,,,,,,,,,,,,,,,
missense_variant,DNAH17,MISSENSE,NM_173628.3:p.His3953Arg/c.11858A>G,cAc/cGc,MODERATE,COSM437656(1),0.950879,0.999,rs12941494,1(T),0.0(B),,-0.9314(T),,chr17,76433898,76433898,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His3953Arg/c.11858A>G|4462|DNAH17|protein_coding|CODING|NM_173628.3|74|1),"GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.999,0.9798,1,0.95,0.85,1.00,,0.000049(N),1.000(P),3.21(T),0.0000(T),0.02,-1.030639,5.07,4.09,-0.215000,1.148000,-0.140000,0.677000,0.989000,0.001000,9.434
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Thr3483Thr/c.10449C>G,acC/acG,LOW,COSM3766196(1),0.466454,0.6042,rs2289751,,,,,,chr17,76449505,76449505,G,C,het,synonymous_variant(LOW|SILENT|acC/acG|p.Thr3483Thr/c.10449C>G|4462|DNAH17|protein_coding|CODING|NM_173628.3|65|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.3978,0.4798,0.5994,0.49,0.34,0.56,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Cys3242Cys/c.9726C>T,tgC/tgT,LOW,COSM3755933(2),0.220647,0.249,rs2289754,,,,,,chr17,76455218,76455218,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys3242Cys/c.9726C>T|4462|DNAH17|protein_coding|CODING|NM_173628.3|61|1),"GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.2975,0.3458,0.1382,0.15,0.14,0.15,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Ser2969Ser/c.8907C>T,agC/agT,LOW,,0.65016,0.8442,rs691225,,,,,,chr17,76462770,76462770,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser2969Ser/c.8907C>T|4462|DNAH17|protein_coding|CODING|NM_173628.3|56|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.6227,0.7651,0.8002,0.67,0.43,0.79,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Asp2835Asp/c.8505C>T,gaC/gaT,LOW,COSM3755935(3),0.133387,0.1895,rs61746438,,,,,,chr17,76471366,76471366,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2835Asp/c.8505C>T|4462|DNAH17|protein_coding|CODING|NM_173628.3|54|1),"HUVEC:H3K27me3,GM12878:H3K27ac,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.1953,0.085,0.1103,0.11,0.08,0.12,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Leu2680Leu/c.8040C>T,ctC/ctT,LOW,COSM3755936(1),0.375599,0.2798,rs7405830,,,,,,chr17,76472768,76472768,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu2680Leu/c.8040C>T|4462|DNAH17|protein_coding|CODING|NM_173628.3|52|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2372,0.2435,0.1909,0.34,0.66,0.19,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Thr2474Thr/c.7422G>C,acG/acC,LOW,COSM437662(1),0.642372,0.621,rs11872051,,,,,,chr17,76481693,76481693,C,G,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr2474Thr/c.7422G>C|4462|DNAH17|protein_coding|CODING|NM_173628.3|47|1),intron_variant(MODIFIER|||n.253+449C>G||DNAH17-AS1||NON_CODING|NR_102401.1|1|1)","GM12878:H3K4me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,H1ESC:H3K4me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3",,,,0.7106,0.7305,0.674,0.64,0.58,0.68,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Ile2325Ile/c.6975T>C,atT/atC,LOW,COSM4000319(2),0.654353,0.5952,rs691151,,,,,,chr17,76482432,76482432,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile2325Ile/c.6975T>C|4462|DNAH17|protein_coding|CODING|NM_173628.3|45|1),intron_variant(MODIFIER|||n.253+1188A>G||DNAH17-AS1||NON_CODING|NR_102401.1|1|1)","GM12878:H3K4me3,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7413,0.768,0.659,0.64,0.58,0.66,,,,,,,,,,,,,,,,
missense_variant,DNAH17,MISSENSE,NM_173628.3:p.Asp1522Tyr/c.4564G>T,Gac/Tac,MODERATE,,0.08127,0.0764,rs62073553,0.17(T),0.003(B),1.005(L),-1.0924(T),,chr17,76503560,76503560,C,A,het,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp1522Tyr/c.4564G>T|4462|DNAH17|protein_coding|CODING|NM_173628.3|28|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0624,0.1311,0.16,0.11,0.03,0.15,,,1.000(P),0.09(T),0.0007(T),0.106,1.352804,4.97,-3.25,-0.214000,-0.946000,-1.199000,0.009000,0.000000,0.000000,5.2866
missense_variant,DNAH17,MISSENSE,NM_173628.3:p.Thr1511Ala/c.4531A>G,Acc/Gcc,MODERATE,COSM148354(1),0.578474,0.4653,rs9896398,0.8(T),0.0(B),-1.185(N),-0.9684(T),,chr17,76503593,76503593,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1511Ala/c.4531A>G|4462|DNAH17|protein_coding|CODING|NM_173628.3|28|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.5542,0.4452,0.5984,0.65,0.74,0.61,,,1.000(P),0.2(T),0.0000(T),0.023,-0.936325,4.97,1.63,-0.213000,0.123000,0.112000,0.918000,0.273000,0.000000,3.1544
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Leu1278Leu/c.3834A>G,ctA/ctG,LOW,,0.146965,0.0873,rs17729253,,,,,,chr17,76521121,76521121,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1278Leu/c.3834A>G|4462|DNAH17|protein_coding|CODING|NM_173628.3|25|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.1973,0.2046,0.2634,0.19,0.05,0.26,,,,,,,,,,,,,,,,
missense_variant,DNAH17,MISSENSE,NM_173628.3:p.Arg1220His/c.3659G>A,cGc/cAc,MODERATE,,0.0924521,0.0804,rs61744544,0.07(T),,0.75(N),-0.9923(T),,chr17,76522785,76522785,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg1220His/c.3659G>A|4462|DNAH17|protein_coding|CODING|NM_173628.3|24|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:HNF4A,IMR90:H3K27me3",,,,0.0573,0.1614,0.1948,0.13,0.03,0.18,,,1.000(P),1.91(T),0.0001(T),0.084,0.096799,4.37,-7.87,-1.351000,-1.574000,-2.782000,0.008000,0.000000,0.000000,8.2143
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Leu1166Leu/c.3496T>C,Ttg/Ctg,LOW,,0.595048,0.5933,rs386592143,,,,,,chr17,76525565,76525565,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1166Leu/c.3496T>C|4462|DNAH17|protein_coding|CODING|NM_173628.3|22|1),"GM12878:H3K36me3,IMR90:H3K27me3",,,,0.4489,0.598,0.6282,0.63,0.63,0.62,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Pro1029Pro/c.3087G>A,ccG/ccA,LOW,,0.460663,0.4167,rs11868065,,,,,,chr17,76528591,76528591,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1029Pro/c.3087G>A|4462|DNAH17|protein_coding|CODING|NM_173628.3|20|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4049,0.4193,0.5348,0.53,0.50,0.54,,,,,,,,,,,,,,,,
missense_variant,DNAH17,MISSENSE,NM_173628.3:p.Ile963Thr/c.2888T>C,aTa/aCa,MODERATE,,0.458866,0.4157,rs11651537,0.52(T),,0.895(L),-0.9258(T),,chr17,76528790,76528790,A,G,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile963Thr/c.2888T>C|4462|DNAH17|protein_coding|CODING|NM_173628.3|20|1),"NHEK:H3K27ac,CD4:H2BK20ac,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3998,0.4179,0.5318,0.52,0.50,0.53,,,1.000(P),1.9(T),0.0000(T),0.284,-0.886596,5.2,2.99,0.379000,1.947000,0.453000,0.233000,0.968000,0.000000,4.7212
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Leu849Leu/c.2547A>G,ctA/ctG,LOW,,0.738019,0.7381,rs7221209,,,,,,chr17,76535948,76535948,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu849Leu/c.2547A>G|4462|DNAH17|protein_coding|CODING|NM_173628.3|18|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.7076,0.7161,0.7545,0.76,0.79,0.75,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Lys590Lys/c.1770A>G,aaA/aaG,LOW,COSM4130726(1),0.940096,0.9236,rs894966,,,,,,chr17,76557862,76557862,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys590Lys/c.1770A>G|4462|DNAH17|protein_coding|CODING|NM_173628.3|12|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9325,0.9582,0.9573,0.95,0.93,0.96,,,,,,,,,,,,,,,,
synonymous_variant,DNAH17,SILENT,NM_173628.3:p.Tyr563Tyr/c.1689C>T,taC/taT,LOW,COSM4000321(1),0.141174,0.2897,rs1108366,,,,,,chr17,76557943,76557943,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr563Tyr/c.1689C>T|4462|DNAH17|protein_coding|CODING|NM_173628.3|12|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0818,0.1902,0.1571,0.13,0.06,0.16,,,,,,,,,,,,,,,,
missense_variant,DNAH17,MISSENSE,NM_173628.3:p.Thr233Ala/c.697A>G,Act/Gct,MODERATE,COSM4130729(1),0.989018,0.999,rs894968,0.84(T),,,-0.9926(T),,chr17,76567707,76567707,T,C,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr233Ala/c.697A>G|4462|DNAH17|protein_coding|CODING|NM_173628.3|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9969,0.987,0.9692,0.97,0.99,0.96,,,1.000(P),0.54(T),0.0000(T),0.01,-2.156561,5.13,-2.63,-2.031000,-0.663000,-0.748000,0.005000,0.418000,0.000000,5.0088
missense_variant,USP36,MISSENSE,NM_025090.3:p.Arg828Cys/c.2482C>T,Cgc/Tgc,MODERATE,COSM3736177(3),0.409145,0.4077,rs1057040,0.06(T),"0.0,0.0(B,B)",-0.92(N),-0.9028(T),,chr17,76799795,76799795,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg828Cys/c.2482C>T|1123|USP36|protein_coding|CODING|NM_025090.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3701,0.4481,0.5149,0.46,0.35,0.52,,0.000014(N),1.000(P),"3.27,3.27(T,T)",0.0000(T),0.054,1.817767,5.39,-10.8,-1.152000,-1.751000,-4.691000,0.058000,0.000000,0.000000,1.3542
missense_variant,USP36,MISSENSE,NM_025090.3:p.Gln806Arg/c.2417A>G,cAg/cGg,MODERATE,,0.570288,0.6111,rs3088040,0.56(T),"0.0,0.001(B,B)",0.69(N),-0.9488(T),,chr17,76799860,76799860,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln806Arg/c.2417A>G|1123|USP36|protein_coding|CODING|NM_025090.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5665,0.4914,0.5477,0.55,0.57,0.54,,0.001065(N),1.000(P),"3.32,3.32(T,T)",0.0000(T),0.022,-1.783789,5.42,-8.65,-2.031000,-2.360000,-1.813000,0.007000,0.000000,0.000000,2.75
synonymous_variant,USP36,SILENT,NM_025090.3:p.Ser793Ser/c.2379T>C,tcT/tcC,LOW,COSM1480118(1),0.566294,0.6081,rs386487426,,,,,,chr17,76799898,76799898,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser793Ser/c.2379T>C|1123|USP36|protein_coding|CODING|NM_025090.3|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5634,0.4914,0.5477,0.55,0.57,0.55,,,,,,,,,,,,,,,,
synonymous_variant,USP36,SILENT,NM_025090.3:p.Arg330Arg/c.990C>T,cgC/cgT,LOW,COSM3755949(1),0.115615,0.0863,rs35273233,,,,,,chr17,76814782,76814782,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg330Arg/c.990C>T|1123|USP36|protein_coding|CODING|NM_025090.3|10|1),"H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.091,0.1297,0.1988,0.16,0.10,0.19,,,,,,,,,,,,,,,,
missense_variant,USP36,MISSENSE,NM_025090.3:p.Val271Ile/c.811G>A,Gtc/Atc,MODERATE,COSM3755951(1),0.358626,0.504,rs3744793,1(T),0.02(B),-0.985(N),-0.9592(T),,chr17,76817090,76817090,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val271Ile/c.811G>A|1123|USP36|protein_coding|CODING|NM_025090.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4693,0.3876,0.4115,0.34,0.16,0.43,,0.000652(N),0.000(P),"3.57,3.57(T,T)",0.0000(T),0.027,-0.080424,5.13,-1.35,-0.290000,-0.216000,0.167000,0.920000,0.327000,0.982000,12.0683
missense_variant,KIAA1731NL,MISSENSE,NM_001243540.1:p.Trp76Arg/c.226T>C,Tgg/Cgg,MODERATE,,0.00419329,0,rs145329239,0.02(D),0.018(B),,-1.0015(T),,chr17,76888360,76888360,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp76Arg/c.226T>C|621|KIAA1731NL|protein_coding|CODING|NM_001243540.1|3|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp18Arg/c.52T>C|563|KIAA1731NL|protein_coding|CODING|NM_001243541.1|3|1),intron_variant(MODIFIER|||c.131-18359T>C|220|TIMP2|protein_coding|CODING|NM_003255.4|1|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.0061,0,0.0139,,,,,0.701765(N),1.000(N),2.38(T),0.0187(T),0.018,1.951999,4.34,-3.4,0.533000,-0.752000,-0.386000,0.003000,0.000000,0.000000,5.2372
synonymous_variant,LGALS3BP,SILENT,NM_005567.3:p.Asp89Asp/c.267T>C,gaT/gaC,LOW,COSM4130735(1),0.920128,0.8194,rs3744166,,,,,,chr17,76970879,76970879,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp89Asp/c.267T>C|585|LGALS3BP|protein_coding|CODING|NM_005567.3|4|1),"H1ESC:H3K36me3,IMR90:DNase1,HepG2:PolII,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8487,0.9395,0.9821,0.99,0.99,0.98,,,0.000(P),,,.,-0.954014,3.22,-4.99,-1.957000,-1.271000,-2.753000,0.153000,0.323000,0.000000,11.0264
missense_variant,CANT1,MISSENSE,NM_001159772.1:p.Arg270Gln/c.809G>A,cGg/cAg,MODERATE,,,,,0.05(D),0.618(P),2.53(M),0.2300(D),,chr17,76991126,76991126,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg270Gln/c.809G>A|401|CANT1|protein_coding|CODING|NM_001159772.1|5|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg270Gln/c.809G>A|401|CANT1|protein_coding|CODING|NM_001159773.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg270Gln/c.809G>A|401|CANT1|protein_coding|CODING|NM_138793.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000368(D),0.917(N),"-2.28,-2.28(D,D)",0.7069(D),0.451,2.584523,4.64,4.64,0.462000,2.129000,3.413000,0.021000,0.009000,0.972000,17.4867
synonymous_variant,CANT1,SILENT,NM_001159772.1:p.Ala53Ala/c.159T>C,gcT/gcC,LOW,COSM3755954(1),0.44349,0.6716,rs8077024,,,,,,chr17,76993546,76993546,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala53Ala/c.159T>C|401|CANT1|protein_coding|CODING|NM_001159772.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala53Ala/c.159T>C|401|CANT1|protein_coding|CODING|NM_001159773.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala53Ala/c.159T>C|401|CANT1|protein_coding|CODING|NM_138793.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4387,0.4366,0.2734,0.32,0.41,0.28,,,,,,,,,,,,,,,,
synonymous_variant,ENGASE,SILENT,NM_001042573.2:p.Ser239Ser/c.717G>T,tcG/tcT,LOW,COSM4130740(1),0.391174,0.3284,rs3744186,,,,,,chr17,77076440,77076440,G,T,het,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser239Ser/c.717G>T|743|ENGASE|protein_coding|CODING|NM_001042573.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4141,0.4265,0.1948,0.30,0.47,0.22,,,,,,,,,,,,,,,,
synonymous_variant,CBX2,SILENT,NM_005189.2:p.Leu414Leu/c.1242G>A,ctG/ctA,LOW,COSM437706(2),0.204473,0.1806,rs3751956,,,,,,chr17,77758484,77758484,G,A,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu414Leu/c.1242G>A|532|CBX2|protein_coding|CODING|NM_005189.2|5|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1994,0.2334,0.4443,0.30,0.09,0.41,,,,,,,,,,,,,,,,
missense_variant,CBX8,MISSENSE,NM_020649.2:p.Gly317Val/c.950G>T,gGg/gTg,MODERATE,COSM437708(5),0.609425,0.4097,rs4889891,0.3(T),0.0(B),-0.69(N),-0.9029(T),,chr17,77768654,77768654,C,A,het,missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly317Val/c.950G>T|389|CBX8|protein_coding|CODING|NM_020649.2|5|1),"HUVEC:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5879,0.6902,0.4702,0.60,0.78,0.51,,0.014826(N),1.000(P),1.08(T),0.0000(T),0.043,-2.575191,4.47,3.36,-0.383000,0.317000,0.443000,0.361000,0.182000,0.000000,10.8184
synonymous_variant,CCDC40,SILENT,NM_017950.3:p.Val69Val/c.207G>C,gtG/gtC,LOW,,0.957268,0.8968,rs2289527,,,,,,chr17,78013724,78013724,G,C,hom,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val69Val/c.207G>C|1030|CCDC40|protein_coding|CODING|NM_001243342.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val69Val/c.207G>C|1142|CCDC40|protein_coding|CODING|NM_017950.3|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.9049,0.9928,0.993,0.99,0.99,0.99,,,,,,,,,,,,,,,,
missense_variant,CCDC40,MISSENSE,NM_017950.3:p.Ala630Val/c.1889C>T,gCt/gTt,MODERATE,,0.0505192,0,rs61749058,0.24(T),"0.197,0.147(B,B)",1.87(L),-1.1094(T),,chr17,78055757,78055757,C,T,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala630Val/c.1889C>T|1030|CCDC40|protein_coding|CODING|NM_001243342.1|12|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala630Val/c.1889C>T|1142|CCDC40|protein_coding|CODING|NM_017950.3|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,NHEK:H3K27me3",,,,0.0501,0.0576,0.1113,,,,,,1.000(N),"0.8,0.83(T,T)",0.0043(T),0.079,1.622316,5.07,0.235,-0.182000,0.138000,-1.124000,0.004000,0.000000,0.000000,1.9275
synonymous_variant,CCDC40,SILENT,NM_017950.3:p.Ala630Ala/c.1890T>G,gcT/gcG,LOW,COSM3755976(3),0.464257,0.2927,rs35578653,,,,,,chr17,78055758,78055758,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala630Ala/c.1890T>G|1030|CCDC40|protein_coding|CODING|NM_001243342.1|12|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala630Ala/c.1890T>G|1142|CCDC40|protein_coding|CODING|NM_017950.3|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,NHEK:H3K27me3",,,,0.4141,0.428,0.5219,0.52,0.58,0.49,,,,,,,,,,,,,,,,
synonymous_variant,CCDC40,SILENT,NM_017950.3:p.Asp1010Asp/c.3030T>C,gaT/gaC,LOW,COSM437721(2),0.714257,0.6567,rs12952612,,,,,,chr17,78071052,78071052,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1010Asp/c.3030T>C|1142|CCDC40|protein_coding|CODING|NM_017950.3|19|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8374,0.5663,0.7614,0.74,0.71,0.75,,,,,,,,,,,,,,,,
synonymous_variant,CCDC40,SILENT,NM_017950.3:p.Thr1070Thr/c.3210A>G,acA/acG,LOW,COSM4000332(1),0.394569,0.4335,rs56407805,,,,,,chr17,78073355,78073355,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1070Thr/c.3210A>G|1142|CCDC40|protein_coding|CODING|NM_017950.3|20|1),upstream_gene_variant(MODIFIER||2000||952|GAA|protein_coding|CODING|NM_000152.3||1),upstream_gene_variant(MODIFIER||2000||952|GAA|protein_coding|CODING|NM_001079803.1||1),upstream_gene_variant(MODIFIER||2000||952|GAA|protein_coding|CODING|NM_001079804.1||1)","H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.3763,0.1931,0.3022,0.35,0.49,0.28,,,,,,,,,,,,,,,,
synonymous_variant,CCDC40,SILENT,NM_017950.3:p.Pro1139Pro/c.3417A>G,ccA/ccG,LOW,COSM4130769(1),0.501597,0.4355,rs2304854,,,,,,chr17,78073562,78073562,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1139Pro/c.3417A>G|1142|CCDC40|protein_coding|CODING|NM_017950.3|20|1),upstream_gene_variant(MODIFIER||1793||952|GAA|protein_coding|CODING|NM_000152.3||1),upstream_gene_variant(MODIFIER||1793||952|GAA|protein_coding|CODING|NM_001079803.1||1),upstream_gene_variant(MODIFIER||1793||952|GAA|protein_coding|CODING|NM_001079804.1||1)","H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.544,0.2911,0.4751,0.49,0.59,0.45,,,,,,,,,,,,,,,,
synonymous_variant,GAA,SILENT,NM_000152.3:p.Cys108Cys/c.324T>C,tgT/tgC,LOW,COSM3755978(3),0.714457,0.6518,rs1800300,,,,,,chr17,78078709,78078709,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys108Cys/c.324T>C|952|GAA|protein_coding|CODING|NM_000152.3|2|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys108Cys/c.324T>C|952|GAA|protein_coding|CODING|NM_001079803.1|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys108Cys/c.324T>C|952|GAA|protein_coding|CODING|NM_001079804.1|2|1)","NHEK:H3K27me3,HepG2:H3K36me3",,RCV000078180.2,,0.8313,0.562,0.7634,0.73,0.70,0.75,,,,,,,,,,,,,,,,
missense_variant,GAA,MISSENSE,NM_000152.3:p.His199Arg/c.596A>G,cAt/cGt,MODERATE,COSM3755979(1),0.600839,0.5437,rs1042393,0.71(T),0.0(B),-2.92(N),-0.8924(T),,chr17,78079597,78079597,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His199Arg/c.596A>G|952|GAA|protein_coding|CODING|NM_000152.3|3|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His199Arg/c.596A>G|952|GAA|protein_coding|CODING|NM_001079803.1|4|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His199Arg/c.596A>G|952|GAA|protein_coding|CODING|NM_001079804.1|3|1)","H1ESC:H3K36me3,K562:Max,GM12878:H3K36me3,NH-A:H3K27me3,HSMM:DNase1,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000078183.2,,0.6524,0.5418,0.7535,0.67,0.54,0.74,,0.262909(N),1.000(P),"-1.81,-1.81(D,D)",0.0000(T),0.174,-1.607992,5.05,-2.36,-0.930000,-0.605000,-0.217000,0.021000,0.000000,0.000000,12.4662
synonymous_variant,GAA,SILENT,NM_000152.3:p.Ser214Ser/c.642C>T,tcC/tcT,LOW,COSM3755980(1),0.10603,0.002,rs1800301,,,,,,chr17,78079643,78079643,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser214Ser/c.642C>T|952|GAA|protein_coding|CODING|NM_000152.3|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser214Ser/c.642C>T|952|GAA|protein_coding|CODING|NM_001079803.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser214Ser/c.642C>T|952|GAA|protein_coding|CODING|NM_001079804.1|3|1)","H1ESC:H3K36me3,K562:Max,GM12878:H3K36me3,NH-A:H3K27me3,HSMM:DNase1,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000078184.2,,0.1472,0.1138,0.2276,0.17,0.08,0.22,,,,,,,,,,,,,,,,
missense_variant,GAA,MISSENSE,NM_000152.3:p.Arg223His/c.668G>A,cGc/cAc,MODERATE,COSM3721877(3),0.602436,0.5437,rs1042395,0.58(T),0.022(B),2.27(M),-0.9104(T),,chr17,78079669,78079669,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg223His/c.668G>A|952|GAA|protein_coding|CODING|NM_000152.3|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg223His/c.668G>A|952|GAA|protein_coding|CODING|NM_001079803.1|4|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg223His/c.668G>A|952|GAA|protein_coding|CODING|NM_001079804.1|3|1)","H1ESC:H3K36me3,K562:Max,GM12878:H3K36me3,NH-A:H3K27me3,HSMM:DNase1,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000078185.2,,0.6605,0.5418,0.7535,0.67,0.54,0.74,,0.000068(D),1.000(P),"-2.0,-2.0(D,D)",0.0000(T),0.37,0.240631,5.15,1.76,0.655000,1.113000,-0.044000,0.027000,0.941000,0.000000,10.8552
synonymous_variant,GAA,SILENT,NM_000152.3:p.Gln401Gln/c.1203G>A,caG/caA,LOW,COSM3755981(1),0.602835,0.5427,rs1800304,,,,,,chr17,78082504,78082504,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln401Gln/c.1203G>A|952|GAA|protein_coding|CODING|NM_000152.3|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln401Gln/c.1203G>A|952|GAA|protein_coding|CODING|NM_001079803.1|9|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln401Gln/c.1203G>A|952|GAA|protein_coding|CODING|NM_001079804.1|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,RCV000078155.2,,0.6718,0.5418,0.7515,0.67,0.54,0.74,,,,,,,,,,,,,,,,
synonymous_variant,GAA,SILENT,NM_000152.3:p.Arg527Arg/c.1581G>A,agG/agA,LOW,COSM148357(2),0.159545,0.1091,rs1042396,,,,,,chr17,78084769,78084769,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg527Arg/c.1581G>A|952|GAA|protein_coding|CODING|NM_000152.3|11|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg527Arg/c.1581G>A|952|GAA|protein_coding|CODING|NM_001079803.1|12|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg527Arg/c.1581G>A|952|GAA|protein_coding|CODING|NM_001079804.1|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000078160.2,,0.1953,0.2579,0.2724,0.21,0.07,0.28,,,,,,,,,,,,,,,,
synonymous_variant,GAA,SILENT,NM_000152.3:p.Thr711Thr/c.2133A>G,acA/acG,LOW,COSM1162489(3),0.241613,0.3819,rs1800310,,,,,,chr17,78087109,78087109,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr711Thr/c.2133A>G|952|GAA|protein_coding|CODING|NM_000152.3|15|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr711Thr/c.2133A>G|952|GAA|protein_coding|CODING|NM_001079803.1|16|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr711Thr/c.2133A>G|952|GAA|protein_coding|CODING|NM_001079804.1|15|1)","GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27ac,H1ESC:DNase1,K562:H3K27me3,HepG2:H3K36me3",,RCV000078168.2,,0.2945,0.1643,0.3052,0.23,0.12,0.28,,,,,,,,,,,,,,,,
missense_variant,GAA,MISSENSE,NM_000152.3:p.Val780Ile/c.2338G>A,Gta/Ata,MODERATE,COSM3755982(4),0.711861,0.6498,rs1126690,0.48(T),0.003(B),0.55(N),-0.9751(T),,chr17,78091405,78091405,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val780Ile/c.2338G>A|952|GAA|protein_coding|CODING|NM_000152.3|17|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val780Ile/c.2338G>A|952|GAA|protein_coding|CODING|NM_001079803.1|18|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val780Ile/c.2338G>A|952|GAA|protein_coding|CODING|NM_001079804.1|17|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,RCV000078171.2,,0.8323,0.5519,0.7624,0.73,0.70,0.75,,0.508455(N),1.000(P),"-2.58,-2.58(D,D)",0.0000(T),0.058,-0.878283,4.12,-2.09,-1.305000,-0.561000,-0.389000,0.212000,0.008000,0.000000,5.9651
synonymous_variant,GAA,SILENT,NM_000152.3:p.Gly851Gly/c.2553G>A,ggG/ggA,LOW,COSM3766205(1),0.509385,0.2887,rs1042397,,,,,,chr17,78092063,78092063,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly851Gly/c.2553G>A|952|GAA|protein_coding|CODING|NM_000152.3|18|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly851Gly/c.2553G>A|952|GAA|protein_coding|CODING|NM_001079803.1|19|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly851Gly/c.2553G>A|952|GAA|protein_coding|CODING|NM_001079804.1|18|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,RCV000078176.2,,0.5429,0.4942,0.663,0.60,0.53,0.64,,,,,,,,,,,,,,,,
synonymous_variant,EIF4A3,SILENT,NM_014740.3:p.Val160Val/c.480C>T,gtC/gtT,LOW,COSM1178449(1),0.129792,0.1022,rs2241886,,,,,,chr17,78113832,78113832,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val160Val/c.480C>T|411|EIF4A3|protein_coding|CODING|NM_014740.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.183,0.2262,0.174,0.15,0.05,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CARD14,SILENT,NM_024110.4:p.Glu211Glu/c.633G>A,gaG/gaA,LOW,COSM4130772(1),0.347045,0.2212,rs4889990,,,,,,chr17,78157995,78157995,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu211Glu/c.633G>A|740|CARD14|protein_coding|CODING|NM_001257970.1|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu211Glu/c.633G>A|1004|CARD14|protein_coding|CODING|NM_024110.4|4|1),non_coding_exon_variant(MODIFIER|||n.866G>A||CARD14||CODING|NR_047566.1|5|1)","GM06990:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4008,0.2939,0.3618,0.39,0.41,0.37,,,,,,,,,,,,,,,,
missense_variant,CARD14,MISSENSE,NM_024110.4:p.Arg547Ser/c.1641G>C,agG/agC,MODERATE,COSM1387027(2),0.370208,0.4554,rs2066964,0.9(T),"0.0,0.0(B,B)",-1.5(N),-0.9222(T),,chr17,78171944,78171944,G,C,het,"missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg547Ser/c.1641G>C|740|CARD14|protein_coding|CODING|NM_001257970.1|12|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg547Ser/c.1641G>C|1004|CARD14|protein_coding|CODING|NM_024110.4|12|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg310Ser/c.930G>C|434|CARD14|protein_coding|CODING|NM_052819.2|9|1),non_coding_exon_variant(MODIFIER|||n.1806G>C||CARD14||CODING|NR_047566.1|13|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.4254,0.2435,0.4006,0.36,0.31,0.38,,0.838903(N),1.000(P),"1.77,2.46(T,T)",0.0000(T),0.326,-1.787786,2.81,0.71,-0.352000,-0.043000,0.149000,0.018000,0.000000,0.002000,6.6802
missense_variant,CARD14,MISSENSE,NM_024110.4:p.Arg820Trp/c.2458C>T,Cgg/Tgg,MODERATE,,0.353035,0.499,rs11652075,0.02(D),0.17(B),1.04(L),-0.9523(T),,chr17,78178893,78178893,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg820Trp/c.2458C>T|1004|CARD14|protein_coding|CODING|NM_024110.4|18|1),non_coding_exon_variant(MODIFIER|||n.2633C>T||CARD14||CODING|NR_047566.1|19|1)","IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.3139,0.2767,0.5099,0.41,0.25,0.49,,0.044886(N),0.149(P),3.41(T),0.0000(T),0.152,1.135215,4.09,1.85,-0.424000,0.706000,3.132000,0.008000,0.544000,0.981000,4.3708
missense_variant,SGSH,MISSENSE,NM_000199.3:p.Arg456His/c.1367G>A,cGc/cAc,MODERATE,COSM3755983(1),0.345847,0.3998,rs7503034,0.12(T),0.0(B),0.345(N),-1.0617(T),,chr17,78184393,78184393,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg456His/c.1367G>A|502|SGSH|protein_coding|CODING|NM_000199.3|8|1),downstream_gene_variant(MODIFIER||1263||1004|CARD14|protein_coding|CODING|NM_024110.4||1),downstream_gene_variant(MODIFIER||1263|||CARD14||CODING|NR_047566.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000078352.1,,0.4213,0.4769,0.3032,0.29,0.22,0.33,,0.198071(N),0.001(P),"-1.1,-1.1(T,T)",0.0000(T),0.032,0.320438,4.89,-6.91,-1.090000,-1.268000,-0.308000,0.003000,0.000000,0.000000,10.126
missense_variant,RNF213,MISSENSE,NM_001256071.2:p.Asn1045Asp/c.3133A>G,Aat/Gat,MODERATE,,0.999401,0.998,rs6565674,1(T),,-1.7(N),-0.9567(T),,chr17,78298938,78298938,A,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn1045Asp/c.3133A>G|5207|RNF213|protein_coding|CODING|NM_001256071.2|18|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,,,,,,0.003(P),,0.0000(T),0.009,0.867751,5.49,5.49,-0.119000,1.331000,2.839000,0.002000,0.002000,0.485000,11.5929
missense_variant,RNF213,MISSENSE,NM_001256071.2:p.Gln1133Lys/c.3397C>A,Caa/Aaa,MODERATE,COSM148362(1),0.558307,0.2262,rs8082521,0.96(T),,-0.345(N),-1.0074(T),,chr17,78302157,78302157,C,A,hom,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln1133Lys/c.3397C>A|5207|RNF213|protein_coding|CODING|NM_001256071.2|20|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5613,0.4524,0.7058,0.70,0.73,0.69,,,1.000(P),,0.0000(T),0.066,0.940644,5.32,-10.6,-1.667000,-3.437000,-1.235000,0.001000,0.000000,0.000000,5.1824
missense_variant,RNF213,MISSENSE,NM_001256071.2:p.Val1195Met/c.3583G>A,Gtg/Atg,MODERATE,,0.488818,0.3879,rs10782008,0.13(T),,0.785(N),-0.9956(T),,chr17,78305871,78305871,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1195Met/c.3583G>A|5207|RNF213|protein_coding|CODING|NM_001256071.2|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.3963,0.67,0.59,0.48,0.64,,,1.000(P),,0.0000(T),0.333,0.865654,5.57,1.26,-0.140000,0.025000,0.737000,0.003000,0.003000,0.476000,5.18
missense_variant,RNF213,MISSENSE,NM_001256071.2:p.Glu1272Gln/c.3814G>C,Gaa/Caa,MODERATE,,0.343251,0.3552,rs9913636,0.42(T),,1.7(L),-0.9184(T),,chr17,78306102,78306102,G,C,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu1272Gln/c.3814G>C|5207|RNF213|protein_coding|CODING|NM_001256071.2|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4305,0.2767,0.499,0.39,0.24,0.45,,,1.000(P),,0.0000(T),0.199,1.352616,5.57,-2.58,0.655000,-0.395000,0.754000,0.004000,0.000000,0.001000,2.1307
missense_variant,RNF213,MISSENSE,NM_001256071.2:p.Asp1331Gly/c.3992A>G,gAc/gGc,MODERATE,,0.596645,0.3948,rs8074015,0.2(T),,2.125(M),-1.0811(T),,chr17,78306280,78306280,A,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp1331Gly/c.3992A>G|5207|RNF213|protein_coding|CODING|NM_001256071.2|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.4539,0.7028,0.70,0.74,0.69,,,1.000(P),3.93(T),0.0000(T),0.072,1.083898,5.4,-2.19,-1.617000,-1.095000,0.281000,0.000000,0.000000,0.000000,9.7872
synonymous_variant,RNF213,SILENT,NM_001256071.2:p.Val1340Val/c.4020C>G,gtC/gtG,LOW,,0.48742,0.3819,rs9908287,,,,,,chr17,78306308,78306308,C,G,hom,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val1340Val/c.4020C>G|5207|RNF213|protein_coding|CODING|NM_001256071.2|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.3963,0.669,0.59,0.48,0.64,,,,,,,,,,,,,,,,
synonymous_variant,RNF213,SILENT,NM_001256071.2:p.Ala1550Ala/c.4650G>A,gcG/gcA,LOW,COSM3766206(2),0.598043,0.375,rs4890009,,,,,,chr17,78311508,78311508,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1550Ala/c.4650G>A|5207|RNF213|protein_coding|CODING|NM_001256071.2|24|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.451,0.7018,0.71,0.75,0.69,,,,,,,,,,,,,,,,
missense_variant,RNF213,MISSENSE,NM_001256071.2:p.Ser2334Asn/c.7001G>A,aGt/aAt,MODERATE,,0.558506,0.376,rs9674961,0.81(T),0.0(B),-1.59(N),-0.9805(T),,chr17,78319136,78319136,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser2334Asn/c.7001G>A|5207|RNF213|protein_coding|CODING|NM_001256071.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5746,0.4337,0.6879,0.66,0.65,0.66,,0.285649(N),1.000(P),1.99(T),0.0000(T),0.008,-0.030522,5.84,0.943,-0.982000,-0.073000,2.159000,0.002000,0.000000,0.098000,11.2868
synonymous_variant,RNF213,SILENT,NM_001256071.2:p.Pro2415Pro/c.7245G>C,ccG/ccC,LOW,COSM4000340(1),0.473243,0.378,rs4890012,,,,,,chr17,78319380,78319380,G,C,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro2415Pro/c.7245G>C|5207|RNF213|protein_coding|CODING|NM_001256071.2|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5164,0.3948,0.668,0.57,0.44,0.64,,,,,,,,,,,,,,,,
synonymous_variant,RNF213,SILENT,NM_001256071.2:p.Glu3490Glu/c.10470G>A,gaG/gaA,LOW,COSM148368(3),0.628994,0.5486,rs7216493,,,,,,chr17,78327358,78327358,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu3490Glu/c.10470G>A|5207|RNF213|protein_coding|CODING|NM_001256071.2|34|1),non_coding_exon_variant(MODIFIER|||n.1971C>T||LOC100294362||NON_CODING|NR_029376.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5971,0.5086,0.7346,0.71,0.70,0.71,,,,,,,,,,,,,,,,
synonymous_variant,RNF213,SILENT,NM_001256071.2:p.His4557His/c.13671C>T,caC/caT,LOW,,0.759385,0.5794,rs4889848,,,,,,chr17,78354661,78354661,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His4557His/c.13671C>T|5207|RNF213|protein_coding|CODING|NM_001256071.2|56|1),intron_variant(MODIFIER|||n.241-25573G>A||LOC100294362||NON_CODING|NR_029376.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6421,0.6311,0.8419,0.88,0.96,0.84,,,,,,,,,,,,,,,,
missense_variant,ENDOV,MISSENSE,NM_173627.4:p.Arg112Gln/c.335G>A,cGg/cAg,MODERATE,COSM4130781(1),0.123802,0.004,rs34933300,0.92(T),0.025(B),0.045(N),-0.9711(T),,chr17,78395734,78395734,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg112Gln/c.335G>A|282|ENDOV|protein_coding|CODING|NM_173627.4|3|1),intron_variant(MODIFIER|||c.229-272G>A|237|ENDOV|protein_coding|CODING|NM_001164637.2|2|1),intron_variant(MODIFIER|||c.229-272G>A|264|ENDOV|protein_coding|CODING|NM_001164638.1|2|1)",IMR90:H3K36me3,,,,0.1636,0.1729,0.2684,0.20,0.08,0.25,,0.264527(N),0.000(P),"2.26,2.26(T,T)",0.0000(T),0.107,0.754864,4.63,-3.72,-0.469000,-1.173000,-0.103000,0.020000,0.005000,0.726000,11.1273
synonymous_variant,NPTX1,SILENT,NM_002522.3:p.Gly418Gly/c.1254A>C,ggA/ggC,LOW,COSM1130122(2),0.837061,0.7629,rs12943620,,,,,,chr17,78444658,78444658,T,G,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly418Gly/c.1254A>C|432|NPTX1|protein_coding|CODING|NM_002522.3|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8006,0.83,0.7694,0.84,0.94,0.78,,,,,,,,,,,,,,,,
synonymous_variant,NPTX1,SILENT,NM_002522.3:p.Leu303Leu/c.907T>C,Ttg/Ctg,LOW,COSM4130783(1),0.775359,0.7649,rs1131609,,,,,,chr17,78445702,78445702,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu303Leu/c.907T>C|432|NPTX1|protein_coding|CODING|NM_002522.3|4|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7209,0.8055,0.7555,0.78,0.83,0.76,,,,,,,,,,,,,,,,
synonymous_variant,RPTOR,SILENT,NM_020761.2:p.Phe30Phe/c.90T>C,ttT/ttC,LOW,,0.0497204,0.001,rs61750765,,,,,,chr17,78519519,78519519,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe30Phe/c.90T>C|1177|RPTOR|protein_coding|CODING|NM_001163034.1|1|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe30Phe/c.90T>C|1335|RPTOR|protein_coding|CODING|NM_020761.2|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.0225,0.0807,0.1173,0.11,0.06,0.13,,,,,,,,,,,,,,,,
synonymous_variant,RPTOR,SILENT,NM_020761.2:p.Gly423Gly/c.1269C>T,ggC/ggT,LOW,COSM3755999(3),0.436701,0.4345,rs3751945,,,,,,chr17,78820329,78820329,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly423Gly/c.1269C>T|1177|RPTOR|protein_coding|CODING|NM_001163034.1|11|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly423Gly/c.1269C>T|1335|RPTOR|protein_coding|CODING|NM_020761.2|11|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:CTCF,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,GM12878:Tcf12",,,,0.5971,0.5317,0.6233,0.50,0.24,0.63,,,,,,,,,,,,,,,,
synonymous_variant,RPTOR,SILENT,NM_020761.2:p.Gln506Gln/c.1518A>G,caA/caG,LOW,COSM3756001(1),0.248003,0.3879,rs2289759,,,,,,chr17,78854223,78854223,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln506Gln/c.1518A>G|1335|RPTOR|protein_coding|CODING|NM_020761.2|14|1),intron_variant(MODIFIER|||c.1510-11297A>G|1177|RPTOR|protein_coding|CODING|NM_001163034.1|13|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.245,0.2515,0.22,0.15,0.26,,,,,,,,,,,,,,,,
synonymous_variant,RPTOR,SILENT,NM_020761.2:p.Thr842Thr/c.2526C>T,acC/acT,LOW,COSM437758(2),0.245407,0.1964,rs2271603,,,,,,chr17,78896529,78896529,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr684Thr/c.2052C>T|1177|RPTOR|protein_coding|CODING|NM_001163034.1|18|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr842Thr/c.2526C>T|1335|RPTOR|protein_coding|CODING|NM_020761.2|22|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3067,0.2911,0.3241,0.27,0.17,0.32,,,,,,,,,,,,,,,,
synonymous_variant,RPTOR,SILENT,NM_020761.2:p.Ala1039Ala/c.3117C>T,gcC/gcT,LOW,COSM4000341(2),0.374601,0.4544,rs1567962,,,,,,chr17,78919558,78919558,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala881Ala/c.2643C>T|1177|RPTOR|protein_coding|CODING|NM_001163034.1|22|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1039Ala/c.3117C>T|1335|RPTOR|protein_coding|CODING|NM_020761.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3436,0.3285,0.334,0.36,0.38,0.35,,,,,,,,,,,,,,,,
synonymous_variant,RPTOR,SILENT,NM_020761.2:p.Arg1203Arg/c.3609C>T,cgC/cgT,LOW,COSM4130785(1),0.309505,0.5546,rs9899178,,,,,,chr17,78935197,78935197,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1045Arg/c.3135C>T|1177|RPTOR|protein_coding|CODING|NM_001163034.1|27|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg1203Arg/c.3609C>T|1335|RPTOR|protein_coding|CODING|NM_020761.2|31|1)","HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.3415,0.3479,0.25,0.12,0.32,,,,,,,,,,,,,,,,
missense_variant,AATK,MISSENSE,NM_001080395.2:p.Phe1266Ser/c.3797T>C,tTc/tCc,MODERATE,,0.359824,0.5437,rs36000545,0.55(T),0.001(B),1.1(L),-0.9199(T),,chr17,79093822,79093822,A,G,het,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe1266Ser/c.3797T>C|1374|AATK|protein_coding|CODING|NM_001080395.2|12|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe1163Ser/c.3488T>C|1271|AATK|protein_coding|CODING|NM_004920.2|11|1)","K562:ZBTB7A,NHEK:CTCF,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HUVEC:DNase1,K562:USF1,NH-A:DNase1,K562:Gabp,K562:CTCFL,K562:Cjun,NHEK:H3K27me3,K562:ELF1,IMR90:H3K27me3,HepG2:DNase1,HMEC:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,K562:E2F4,K562:Jund",,,,0.4049,0.3069,0.3807,0.28,0.17,0.32,,0.511923(N),1.000(P),2.95(T),0.0000(T),0.046,0.053559,3.73,1.32,0.260000,0.108000,0.846000,0.021000,0.005000,0.130000,2.543
synonymous_variant,AATK,SILENT,NM_001080395.2:p.Ala864Ala/c.2592C>T,gcC/gcT,LOW,COSM4130791(1),0.805312,0.8611,rs8073904,,,,-1.0976(T),,chr17,79095144,79095144,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala864Ala/c.2592C>T|1374|AATK|protein_coding|CODING|NM_001080395.2|11|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala761Ala/c.2283C>T|1271|AATK|protein_coding|CODING|NM_004920.2|10|1)","NHEK:CTCF,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HeLa-S3:CTCF,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:CTCF",,,,0.8241,0.634,0.8628,0.85,0.81,0.87,,,0.000(P),,0.0000(T),.,-0.859811,4.47,-8.95,-0.521000,-4.297000,-8.005000,0.003000,0.000000,0.000000,4.3982
missense_variant,AATK,MISSENSE,NM_001080395.2:p.Gly703Cys/c.2107G>T,Ggc/Tgc,MODERATE,COSM437761(8),0.55651,0.6419,rs7503604,0.18(T),0.001(B),0.55(N),-0.9997(T),,chr17,79095629,79095629,C,A,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly703Cys/c.2107G>T|1374|AATK|protein_coding|CODING|NM_001080395.2|11|1),missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly600Cys/c.1798G>T|1271|AATK|protein_coding|CODING|NM_004920.2|10|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,H1ESC:Nrsf,NHEK:DNase1",,,,0.5992,0.6772,0.4911,0.46,0.43,0.48,,0.215355(N),1.000(P),"-1.11,-1.25(T,T)",0.0000(T),0.026,1.142554,3.91,-7.07,-1.672000,-1.190000,-2.384000,0.000000,0.000000,0.000000,1.6467
synonymous_variant,AATK,SILENT,NM_001080395.2:p.Thr118Thr/c.354A>G,acA/acG,LOW,COSM3766210(1),0.0870607,0.0446,rs11871062,,,,-1.0407(T),,chr17,79102330,79102330,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr118Thr/c.354A>G|1374|AATK|protein_coding|CODING|NM_001080395.2|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr15Thr/c.45A>G|1271|AATK|protein_coding|CODING|NM_004920.2|3|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1125,0.0403,0.0616,0.08,0.11,0.06,,,0.000(P),,0.0017(T),.,1.257180,4.09,-0.844,-1.201000,-0.997000,-1.636000,0.886000,0.942000,0.002000,6.0567
synonymous_variant,CEP131,SILENT,NM_014984.2:p.Ala868Ala/c.2604C>T,gcC/gcT,LOW,COSM3756007(2),0.0255591,0,rs113590232,,,,,,chr17,79166136,79166136,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala832Ala/c.2496C>T|1044|CEP131|protein_coding|CODING|NM_001009811.2|20|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala868Ala/c.2604C>T|1080|CEP131|protein_coding|CODING|NM_014984.2|21|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0202,0.0557,0.05,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,CEP131,MISSENSE,NM_014984.2:p.Val473Ala/c.1418T>C,gTg/gCg,MODERATE,COSM4130802(1),0.967652,1,rs2659016,0.65(T),"0.0,0.001,0.0(B,B,B)",0.345(N),-0.9621(T),,chr17,79171967,79171967,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val473Ala/c.1418T>C|1044|CEP131|protein_coding|CODING|NM_001009811.2|12|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val473Ala/c.1418T>C|1080|CEP131|protein_coding|CODING|NM_014984.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.987,0.997,0.97,0.91,1.00,,0.000708(D),1.000(P),"2.04,2.04,2.04(T,T,T)",0.0000(T),0.075,-0.035812,4.68,3.61,-0.349000,0.957000,0.607000,0.017000,0.808000,0.249000,5.245
missense_variant,CEP131,MISSENSE,NM_014984.2:p.Thr397Ala/c.1189A>G,Act/Gct,MODERATE,COSM3756015(3),0.940695,0.9623,rs2659015,1(T),"0.001,0.001,0.002,0.001(B,B,B,B)",-0.63(N),-0.9236(T),,chr17,79173184,79173184,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr397Ala/c.1189A>G|1044|CEP131|protein_coding|CODING|NM_001009811.2|10|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr397Ala/c.1189A>G|1080|CEP131|protein_coding|CODING|NM_014984.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9642,0.9669,0.9732,0.94,0.89,0.97,,0.080477(N),1.000(P),"1.36,1.36,1.36(T,T,T)",0.0000(T),0.025,-1.355550,4.14,-4.27,-3.264000,-2.290000,-2.243000,0.001000,0.000000,0.000000,13.9105
synonymous_variant,CEP131,SILENT,NM_014984.2:p.Thr383Thr/c.1149A>G,acA/acG,LOW,COSM3756017(3),0.909345,0.9157,rs2725419,,,,,,chr17,79173224,79173224,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr383Thr/c.1149A>G|1044|CEP131|protein_coding|CODING|NM_001009811.2|10|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr383Thr/c.1149A>G|1080|CEP131|protein_coding|CODING|NM_014984.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9581,0.9582,0.9682,0.92,0.81,0.97,,,,,,,,,,,,,,,,
missense_variant,CEP131,MISSENSE,NM_014984.2:p.Thr272Ala/c.814A>G,Act/Gct,MODERATE,,0.944089,0.9623,rs2466773,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.135(N),-0.9613(T),,chr17,79174221,79174221,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr272Ala/c.814A>G|1044|CEP131|protein_coding|CODING|NM_001009811.2|8|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr272Ala/c.814A>G|1080|CEP131|protein_coding|CODING|NM_014984.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9816,0.9683,0.9722,0.95,0.89,0.97,,0.000000(N),1.000(P),"2.45,2.45,2.45(T,T,T)",0.0000(T),0.16,-0.229544,5.17,5.17,-0.374000,1.186000,4.978000,0.080000,0.029000,1.000000,13.6089
synonymous_variant,CEP131,SILENT,NM_014984.2:p.Arg74Arg/c.222A>G,agA/agG,LOW,COSM437766(3),0.41853,0.626,rs62075318,,,,,,chr17,79182778,79182778,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg74Arg/c.222A>G|1044|CEP131|protein_coding|CODING|NM_001009811.2|3|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg74Arg/c.222A>G|1080|CEP131|protein_coding|CODING|NM_014984.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5777,0.6095,0.4443,0.35,0.10,0.47,,,,,,,,,,,,,,,,
synonymous_variant,ENTHD2,SILENT,NM_144679.2:p.Pro450Pro/c.1350A>G,ccA/ccG,LOW,COSM4130804(1),0.460863,0.6756,rs2048057,,,,,,chr17,79202956,79202956,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro450Pro/c.1350A>G|525|ENTHD2|protein_coding|CODING|NM_144679.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6411,0.6282,0.4682,0.36,0.14,0.48,,,,,,,,,,,,,,,,
missense_variant,SLC38A10,MISSENSE,NM_001037984.2:p.Ala831Gly/c.2492C>G,gCc/gGc,MODERATE,COSM3756020(2),0.428514,0.7004,rs2725405,0.19(T),0.162(B),1.385(L),-0.9263(T),,chr17,79220224,79220224,G,C,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala831Gly/c.2492C>G|1119|SLC38A10|protein_coding|CODING|NM_001037984.2|16|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6493,0.4784,0.4374,0.33,0.09,0.44,,0.008853(N),1.000(P),"2.93,0.61(T,T)",0.0000(T),0.146,2.033367,3.98,0.68,0.467000,0.336000,0.368000,0.118000,0.000000,0.000000,5.2532
missense_variant,BAHCC1,MISSENSE,NM_001291324.1:p.Ala217Thr/c.649G>A,Gcc/Acc,MODERATE,COSM4130811(1),0.197684,0.004,rs12952981,0.18(T),0.0(B),-0.205(N),-0.8998(T),,chr17,79409189,79409189,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala217Thr/c.649G>A|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|4|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1503,0.2334,0.3519,0.28,0.24,0.30,,,1.000(P),2.72(T),0.0000(T),0.196,-0.951133,3.87,-2.48,0.298000,-0.280000,0.066000,0.057000,0.045000,0.013000,0.2272
missense_variant,BAHCC1,MISSENSE,NM_001291324.1:p.Thr257Ala/c.769A>G,Acg/Gcg,MODERATE,,1,1,rs12938890,0.8(T),0.0(B),0.205(N),-1.0067(T),,chr17,79409309,79409309,A,G,hom,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr257Ala/c.769A>G|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|4|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,,1.000(P),2.77(T),0.0000(T),0.252,-1.278639,3.91,-0.684,-0.764000,-0.596000,-0.082000,0.023000,0.000000,0.000000,5.1399
synonymous_variant,BAHCC1,SILENT,NM_001291324.1:p.Pro298Pro/c.894A>G,ccA/ccG,LOW,,0.494609,0.1984,rs12939225,,,,,,chr17,79409434,79409434,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro298Pro/c.894A>G|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|4|1),"IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4744,0.5447,0.5467,0.61,0.70,0.57,,,,,,,,,,,,,,,,
synonymous_variant,BAHCC1,SILENT,NM_001291324.1:p.Lys390Lys/c.1170G>A,aaG/aaA,LOW,COSM437776(2),0.179712,0.004,rs12943867,,,,,,chr17,79409710,79409710,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys390Lys/c.1170G>A|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|4|1),"HUVEC:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.1176,0.1988,0.336,0.29,0.25,0.31,,,,,,,,,,,,,,,,
missense_variant,BAHCC1,MISSENSE,NM_001291324.1:p.Thr1113Ala/c.3337A>G,Acc/Gcc,MODERATE,COSM437778(1),0.672324,0.4702,rs7213444,0.91(T),"0.0,0.0(B,B)",-0.805(N),-1.0089(T),,chr17,79414307,79414307,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1113Ala/c.3337A>G|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|11|1),"H1ESC:DNase1,K562:Znf263,IMR90:H3K36me3",,,,0.6115,0.8055,0.7763,0.78,0.77,0.79,,0.150458(N),1.000(P),2.61(T),0.0000(T),0.133,-1.589363,4.19,0.76,-0.119000,0.063000,0.226000,0.057000,0.043000,0.000000,0.5353
missense_variant,BAHCC1,MISSENSE,NM_001291324.1:p.Arg1379Gln/c.4136G>A,cGg/cAg,MODERATE,COSM437781(1),0.298922,0.1419,rs35572189,0.61(T),"0.003,0.008(B,B)",1.1(L),-0.9052(T),,chr17,79419025,79419025,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1379Gln/c.4136G>A|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|13|1),upstream_gene_variant(MODIFIER||811|||MIR3186||NON_CODING|NR_036152.1||1)","H1ESC:DNase1,IMR90:H3K36me3",,,,0.3364,0.4164,0.3628,0.33,0.31,0.35,,0.077710(N),0.999(P),1.82(T),0.0000(T),0.441,1.878485,4.39,0.958,0.561000,0.431000,0.682000,0.810000,0.998000,0.001000,5.6911
missense_variant,BAHCC1,MISSENSE,NM_001291324.1:p.Thr1623Ala/c.4867A>G,Acc/Gcc,MODERATE,COSM4130814(3),0.645767,0.4266,rs12601317,0.52(T),"0.0,0.0(B,B)",-1.175(N),-1.0236(T),,chr17,79424516,79424516,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1623Ala/c.4867A>G|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|17|1),"H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3",,,,0.5031,0.7954,0.7893,0.79,0.78,0.80,,0.993871(N),1.000(P),2.8(T),0.0000(T),0.156,-0.631496,4.85,-3.3,-1.507000,-0.167000,-1.163000,0.000000,0.000000,0.000000,1.4631
synonymous_variant,BAHCC1,SILENT,NM_001291324.1:p.Leu1630Leu/c.4888C>T,Ctg/Ttg,LOW,COSM3773833(1),0.304712,0.1438,rs34224936,,,,,,chr17,79424537,79424537,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1630Leu/c.4888C>T|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|17|1),"H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3",,,,0.3395,0.4222,0.3807,0.35,0.30,0.37,,,,,,,,,,,,,,,,
synonymous_variant,BAHCC1,SILENT,NM_001291324.1:p.Ala2280Ala/c.6840C>T,gcC/gcT,LOW,COSM1564132(1),0.0607029,0,rs61738790,,,,,,chr17,79428601,79428601,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2280Ala/c.6840C>T|2584|BAHCC1|protein_coding|CODING|NM_001291324.1|26|1),"HeLa-S3:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,HeLa-S3:H3K4me3",,,,0.0194,0.0504,0.0905,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,ACTG1,SILENT,NM_001199954.1:p.Ala310Ala/c.930C>T,gcC/gcT,LOW,,0.185304,0.005,rs1135989,,,,,,chr17,79478007,79478007,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala310Ala/c.930C>T|375|ACTG1|protein_coding|CODING|NM_001199954.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala310Ala/c.930C>T|375|ACTG1|protein_coding|CODING|NM_001614.3|5|1),non_coding_exon_variant(MODIFIER|||n.1069C>T||ACTG1||CODING|NR_037688.1|5|1)","H1ESC:PolII,NHEK:H3K9ac,HSMM:H4K20me1,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,H1ESC:SP1,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H3K4me3,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,K562:H4K20me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,RCV000037127.3,,0.1534,0.2522,0.3966,0.32,0.19,0.38,,,,,,,,,,,,,,,,
synonymous_variant,ACTG1,SILENT,NM_001199954.1:p.Tyr306Tyr/c.918C>T,taC/taT,LOW,COSM1387303(2),0.75619,0.8433,rs1139405,,,,,,chr17,79478019,79478019,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr306Tyr/c.918C>T|375|ACTG1|protein_coding|CODING|NM_001199954.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr306Tyr/c.918C>T|375|ACTG1|protein_coding|CODING|NM_001614.3|5|1),non_coding_exon_variant(MODIFIER|||n.1057C>T||ACTG1||CODING|NR_037688.1|5|1)","H1ESC:PolII,NHEK:H3K9ac,HSMM:H4K20me1,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,H1ESC:SP1,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H3K4me3,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,K562:H4K20me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,RCV000037126.3,,0.7965,0.7666,0.8151,0.75,0.63,0.82,,,,,,,,,,,,,,,,
missense_variant,FSCN2,MISSENSE,NM_001077182.2:p.Ala323Thr/c.967G>A,Gcc/Acc,MODERATE,,0.013778,0,rs186367879,0.06(T),"0.207,0.079(B,B)",1.765(L),-1.0704(T),,chr17,79502218,79502218,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala323Thr/c.967G>A|516|FSCN2|protein_coding|CODING|NM_001077182.2|2|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala323Thr/c.967G>A|492|FSCN2|protein_coding|CODING|NM_012418.3|2|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.0092,0.0159,0.0447,0.03,0.01,0.04,,,0.823(N),"1.24,1.18(T,T)",0.0174(T),0.116,2.448494,4.91,3.88,0.472000,2.262000,1.457000,0.564000,1.000000,1.000000,13.1706
missense_variant,C17orf70,MISSENSE,NM_025161.5:p.Thr817Ala/c.2449A>G,Acc/Gcc,MODERATE,COSM4130819(1),0.946486,0.999,rs14422,1(T),"0.0,0.0(B,B)",-2.015(N),-1.0016(T),,chr17,79508400,79508400,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr817Ala/c.2449A>G|881|C17orf70|protein_coding|CODING|NM_025161.5|8|1),non_coding_exon_variant(MODIFIER|||n.2718A>G||C17orf70||CODING|NR_033338.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9489,0.9467,0.8807,0.92,0.96,0.91,,,1.000(P),"1.82,1.82,1.82(T,T,T)",0.0000(T),0.019,-1.687715,3.85,2.88,-0.186000,0.423000,0.670000,0.068000,0.456000,0.426000,7.3702
synonymous_variant,C17orf70,SILENT,NM_025161.5:p.Thr774Thr/c.2322T>C,acT/acC,LOW,COSM1178450(2),0.704473,0.7371,rs8077430,,,,,,chr17,79511135,79511135,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr774Thr/c.2322T>C|881|C17orf70|protein_coding|CODING|NM_025161.5|7|1),non_coding_exon_variant(MODIFIER|||n.2591T>C||C17orf70||CODING|NR_033338.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8027,0.8156,0.7406,0.70,0.56,0.77,,,,,,,,,,,,,,,,
missense_variant,C17orf70,MISSENSE,NM_025161.5:p.Pro660Leu/c.1979C>T,cCg/cTg,MODERATE,COSM3756026(3),0.55631,0.621,rs11552304,0.64(T),"0.037,0.103(B,B)",0.69(N),-0.9552(T),,chr17,79514129,79514129,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro660Leu/c.1979C>T|881|C17orf70|protein_coding|CODING|NM_025161.5|5|1),non_coding_exon_variant(MODIFIER|||n.2248C>T||C17orf70||CODING|NR_033338.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6912,0.4841,0.6342,0.58,0.42,0.66,,,1.000(P),"1.53,1.53,1.53(T,T,T)",0.0000(T),0.07,1.714748,4.15,0.0692,0.655000,0.077000,0.956000,0.197000,0.000000,0.001000,4.6267
synonymous_variant,NPLOC4,SILENT,NM_017921.2:p.Gly570Gly/c.1710C>G,ggC/ggG,LOW,COSM437787(1),0.166534,0.1052,rs4073997,,,,,,chr17,79526402,79526402,G,C,hom,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly570Gly/c.1710C>G|608|NPLOC4|protein_coding|CODING|NM_017921.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,H1ESC:CTCF",,,,0.2157,0.3271,0.2545,0.22,0.07,0.29,,,,,,,,,,,,,,,,
synonymous_variant,NPLOC4,SILENT,NM_017921.2:p.Thr257Thr/c.771G>C,acG/acC,LOW,,0.0928514,0.0754,rs11541223,,,,,,chr17,79571637,79571637,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr257Thr/c.771G>C|608|NPLOC4|protein_coding|CODING|NM_017921.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1033,0.245,0.0905,0.08,0.04,0.10,,,,,,,,,,,,,,,,
synonymous_variant,NPLOC4,SILENT,NM_017921.2:p.Thr53Thr/c.159C>T,acC/acT,LOW,COSM3756028(1),0.642772,0.7768,rs6565604,,,,,,chr17,79589242,79589242,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr53Thr/c.159C>T|608|NPLOC4|protein_coding|CODING|NM_017921.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6462,0.6628,0.4076,0.53,0.68,0.46,,,,,,,,,,,,,,,,
synonymous_variant,NPLOC4,SILENT,NM_017921.2:p.Pro12Pro/c.36G>A,ccG/ccA,LOW,COSM3756030(1),0.674121,0.7768,rs9894429,,,,,,chr17,79596811,79596811,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro12Pro/c.36G>A|608|NPLOC4|protein_coding|CODING|NM_017921.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Eye_color_traits,,,0.6472,0.6758,0.4115,0.56,0.76,0.46,,,,,,,,,,,,,,,,
missense_variant,TSPAN10,MISSENSE,NM_001290212.1:p.Cys29Phe/c.86G>T,tGc/tTc,MODERATE,,0.584465,0.7798,rs7406219,,,,,,chr17,79609410,79609410,G,T,het,"missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys29Phe/c.86G>T|393|TSPAN10|protein_coding|CODING|NM_001290212.1|2|1),5_prime_UTR_variant(MODIFIER||29|c.-29G>T|355|TSPAN10|protein_coding|CODING|NM_031945.4|1|1),non_coding_exon_variant(MODIFIER|||n.80G>T||TSPAN10||CODING|NR_110866.1|1|1)","HeLa-S3:DNase1,NHEK:H3K4me1,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,HepG2:H3K27me3,NHEK:DNase1",,,,0.6012,0.6023,0.2853,0.42,0.58,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN10,SILENT,NM_001290212.1:p.Thr98Thr/c.294C>T,acC/acT,LOW,COSM1387326(2),0.577276,0.7798,rs6565616,,,,,,chr17,79612161,79612161,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr98Thr/c.294C>T|393|TSPAN10|protein_coding|CODING|NM_001290212.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr60Thr/c.180C>T|355|TSPAN10|protein_coding|CODING|NM_031945.4|2|1),non_coding_exon_variant(MODIFIER|||n.288C>T||TSPAN10||CODING|NR_110866.1|2|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6012,0.5994,0.2853,0.41,0.56,0.34,,,,,,,,,,,,,,,,
missense_variant,TSPAN10,MISSENSE,NM_001290212.1:p.Ala156Thr/c.466G>A,Gca/Aca,MODERATE,COSM3766212(2),0.585463,0.7808,rs6565617,0.53(T),0.002(B),,-0.9424(T),,chr17,79612333,79612333,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala156Thr/c.466G>A|393|TSPAN10|protein_coding|CODING|NM_001290212.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala118Thr/c.352G>A|355|TSPAN10|protein_coding|CODING|NM_031945.4|2|1),non_coding_exon_variant(MODIFIER|||n.460G>A||TSPAN10||CODING|NR_110866.1|2|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6012,0.6023,0.2853,0.42,0.58,0.34,,0.621349(N),1.000(P),-1.27(T),0.0000(T),0.121,-0.985708,4.15,-6.24,-0.475000,-1.002000,0.223000,0.006000,0.000000,0.000000,0.9097
missense_variant,TSPAN10,MISSENSE,NM_001290212.1:p.Val172Ala/c.515T>C,gTg/gCg,MODERATE,COSM3733881(1),0.585064,0.7798,rs7210026,0.06(T),0.429(B),,-1.1907(T),,chr17,79612382,79612382,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val172Ala/c.515T>C|393|TSPAN10|protein_coding|CODING|NM_001290212.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val134Ala/c.401T>C|355|TSPAN10|protein_coding|CODING|NM_031945.4|2|1),non_coding_exon_variant(MODIFIER|||n.509T>C||TSPAN10||CODING|NR_110866.1|2|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6012,0.6023,0.2853,0.41,0.57,0.34,,0.000111(D),0.000(P),3.07(T),0.0000(T),0.174,2.545822,4.15,4.15,0.379000,1.747000,5.365000,0.193000,0.988000,1.000000,13.3037
missense_variant,TSPAN10,MISSENSE,NM_001290212.1:p.Tyr177Cys/c.530A>G,tAc/tGc,MODERATE,COSM1564129(4),0.844649,0.997,rs6420484,1(T),0.0(B),,-0.9268(T),,chr17,79612397,79612397,A,G,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr177Cys/c.530A>G|393|TSPAN10|protein_coding|CODING|NM_001290212.1|3|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr139Cys/c.416A>G|355|TSPAN10|protein_coding|CODING|NM_031945.4|2|1),non_coding_exon_variant(MODIFIER|||n.524A>G||TSPAN10||CODING|NR_110866.1|2|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8037,0.7781,0.6431,0.73,0.89,0.65,,0.000001(N),0.000(P),-0.78(T),0.0000(T),0.161,-0.964059,4.15,4.15,-0.355000,0.980000,4.684000,0.146000,1.000000,1.000000,12.1229
synonymous_variant,TSPAN10,SILENT,NM_001290212.1:p.Cys182Cys/c.546T>C,tgT/tgC,LOW,COSM4130820(1),0.669928,0.996,rs7210043,,,,,,chr17,79612413,79612413,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys182Cys/c.546T>C|393|TSPAN10|protein_coding|CODING|NM_001290212.1|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys144Cys/c.432T>C|355|TSPAN10|protein_coding|CODING|NM_031945.4|2|1),non_coding_exon_variant(MODIFIER|||n.540T>C||TSPAN10||CODING|NR_110866.1|2|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6718,0.6354,0.328,0.46,0.61,0.38,,,,,,,,,,,,,,,,
synonymous_variant,TSPAN10,SILENT,NM_001290212.1:p.Ser192Ser/c.576T>C,tcT/tcC,LOW,COSM1387328(2),0.669728,0.996,rs7210193,,,,,,chr17,79612443,79612443,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser192Ser/c.576T>C|393|TSPAN10|protein_coding|CODING|NM_001290212.1|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser154Ser/c.462T>C|355|TSPAN10|protein_coding|CODING|NM_031945.4|2|1),non_coding_exon_variant(MODIFIER|||n.570T>C||TSPAN10||CODING|NR_110866.1|2|1)","HUVEC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6718,0.6354,0.327,0.46,0.61,0.38,,,,,,,,,,,,,,,,
splice_acceptor_variant,TSPAN10,,NR_110866.1:n.783A>G,,HIGH,,0.665535,0.996,rs9906358,,,,,,chr17,79614481,79614481,A,G,het,"splice_acceptor_variant(HIGH|||n.783A>G||TSPAN10||CODING|NR_110866.1|3|1),intron_variant(MODIFIER|||n.783-2A>G||TSPAN10||CODING|NR_110866.1|2|1),intron_variant(MODIFIER|||c.795-456A>G|393|TSPAN10|protein_coding|CODING|NM_001290212.1|3|1),intron_variant(MODIFIER|||c.681-456A>G|355|TSPAN10|protein_coding|CODING|NM_031945.4|2|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.6718,0.6297,0.328,,,,,,1.000(P),,,.,-0.812182,1.99,-1.77,-2.830000,-0.833000,-0.697000,0.000000,0.000000,0.000000,5.4869
missense_variant,TSPAN10,MISSENSE,NM_001290212.1:p.Arg361Ser/c.1083G>T,agG/agT,MODERATE,COSM4130821(2),0.983826,1,rs7406494,0.18(T),,,-0.8966(T),,chr17,79615225,79615225,G,T,hom,"missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg361Ser/c.1083G>T|393|TSPAN10|protein_coding|CODING|NM_001290212.1|4|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg323Ser/c.969G>T|355|TSPAN10|protein_coding|CODING|NM_031945.4|3|1),non_coding_exon_variant(MODIFIER|||n.1345G>T||TSPAN10||CODING|NR_110866.1|4|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,NHEK:DNase1",,,,0.9949,0.9914,0.994,,,,,0.937258(N),0.000(P),3.15(T),0.0000(T),0.171,1.412223,4.36,4.36,0.655000,2.401000,3.327000,0.003000,0.012000,0.110000,14.0702
synonymous_variant,CCDC137,SILENT,NM_199287.2:p.Ser121Ser/c.363T>C,tcT/tcC,LOW,,0.98722,1,rs10438817,,,,,,chr17,79637349,79637349,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser121Ser/c.363T>C|289|CCDC137|protein_coding|CODING|NM_199287.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9969,0.9784,0.9583,0.97,0.99,0.96,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A10,SILENT,NM_001270953.1:p.Arg88Arg/c.264T>C,cgT/cgC,LOW,COSM437799(2),0.426318,0.3859,rs2072700,,,,,,chr17,79682558,79682558,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg88Arg/c.264T>C|296|SLC25A10|protein_coding|CODING|NM_001270888.1|3|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg88Arg/c.264T>C|406|SLC25A10|protein_coding|CODING|NM_001270953.1|3|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg88Arg/c.264T>C|287|SLC25A10|protein_coding|CODING|NM_012140.4|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3354,0.4582,0.4384,0.43,0.49,0.40,,,,,,,,,,,,,,,,
missense_variant,SLC25A10,MISSENSE,NM_001270953.1:p.Val298Ile/c.892G>A,Gtc/Atc,MODERATE,,0.41234,0.381,rs11150813,,,,,,chr17,79687218,79687218,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val298Ile/c.892G>A|406|SLC25A10|protein_coding|CODING|NM_001270953.1|11|1),3_prime_UTR_variant(MODIFIER||111|c.*111G>A|296|SLC25A10|protein_coding|CODING|NM_001270888.1|11|1),3_prime_UTR_variant(MODIFIER||111|c.*111G>A|287|SLC25A10|protein_coding|CODING|NM_012140.4|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3364,0.4568,0.4324,,,,,,,,,,,,,,,,,,,
synonymous_variant,GCGR,SILENT,NM_000160.4:p.Phe365Phe/c.1095C>T,ttC/ttT,LOW,,0.126198,0.1379,rs5384,,,,,,chr17,79770740,79770740,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe365Phe/c.1095C>T|477|GCGR|protein_coding|CODING|NM_000160.4|12|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0675,0.2378,0.1521,0.15,0.09,0.17,,,,,,,,,,,,,,,,
synonymous_variant,P4HB,SILENT,NM_000918.3:p.Ile455Ile/c.1365T>C,atT/atC,LOW,,0.250998,0.2857,rs1130674,,,,,,chr17,79803101,79803101,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile455Ile/c.1365T>C|508|P4HB|protein_coding|CODING|NM_000918.3|10|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1063,0.3184,0.173,0.24,0.32,0.20,,,0.000(P),,,.,0.448536,5.16,-6.65,-0.930000,-1.621000,-0.470000,0.556000,0.500000,0.224000,13.4552
synonymous_variant,P4HB,SILENT,NM_000918.3:p.Ile238Ile/c.714C>T,atC/atT,LOW,COSM4000351(1),0.0976438,0.0903,rs2070871,,,,,,chr17,79805134,79805134,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile238Ile/c.714C>T|508|P4HB|protein_coding|CODING|NM_000918.3|5|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0613,0.2277,0.168,0.14,0.04,0.19,,,0.000(P),,,.,1.367499,5.77,1.03,-0.143000,0.379000,0.065000,0.979000,1.000000,0.975000,4.8055
synonymous_variant,P4HB,SILENT,NM_000918.3:p.Arg30Arg/c.88C>A,Cgg/Agg,LOW,COSM1132989(6),0.103834,0.1042,rs11558886,,,,,,chr17,79818260,79818260,G,T,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg30Arg/c.88C>A|508|P4HB|protein_coding|CODING|NM_000918.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,HepG2:Gabp,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM12878:POU2F2,HepG2:PolII,CD4:H2AK9ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:GTF2B,NH-A:DNase1,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.0726,0.2262,0.175,0.11,0.03,0.16,,,,,,,,,,,,,,,,
synonymous_variant,SIRT7,SILENT,NM_016538.2:p.Leu249Leu/c.745T>C,Ttg/Ctg,LOW,,0.986222,1,rs1879569,,,,,,chr17,79872241,79872241,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu249Leu/c.745T>C|400|SIRT7|protein_coding|CODING|NM_016538.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,1,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PYCR1,SILENT,NM_001282281.1:p.Ser328Ser/c.984A>G,tcA/tcG,LOW,COSM4130834(1),0.986022,1,rs61747618,,,,,,chr17,79891147,79891147,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser270Ser/c.810A>G|288|PYCR1|protein_coding|CODING|NM_001282279.1|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser301Ser/c.903A>G|319|PYCR1|protein_coding|CODING|NM_001282280.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser328Ser/c.984A>G|346|PYCR1|protein_coding|CODING|NM_001282281.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser301Ser/c.903A>G|319|PYCR1|protein_coding|CODING|NM_006907.3|7|1),intron_variant(MODIFIER|||c.867+36A>G|316|PYCR1|protein_coding|CODING|NM_153824.2|7|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9971,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,MYADML2,MISSENSE,NM_001145113.2:p.Ser116Pro/c.346T>C,Tcc/Ccc,MODERATE,COSM3749426(11),0.552915,0.3204,rs4796856,0.63(T),0.0(B),-1.1(N),-0.9835(T),,chr17,79899272,79899272,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser116Pro/c.346T>C|307|MYADML2|protein_coding|CODING|NM_001145113.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5757,0.4813,0.6004,,,,,0.000331(N),0.000(P),"1.64,1.64(T,T)",0.0000(T),0.114,0.219995,4.95,4.95,-0.215000,1.332000,2.212000,0.009000,0.625000,0.959000,8.0617
missense_variant,MYADML2,MISSENSE,NM_001145113.2:p.Arg112Gln/c.335G>A,cGg/cAg,MODERATE,COSM3756035(1),0.0307508,0.0089,rs118129884,1(T),0.001(B),-0.345(N),-0.9864(T),,chr17,79899283,79899283,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg112Gln/c.335G>A|307|MYADML2|protein_coding|CODING|NM_001145113.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0286,0.0504,0.0785,,,,,0.012429(N),0.682(N),"1.81,1.81(T,T)",0.0012(T),0.07,-1.597740,4.95,1.91,-0.254000,0.297000,0.982000,0.043000,0.868000,0.532000,4.3983
synonymous_variant,MYADML2,SILENT,NM_001145113.2:p.Ala41Ala/c.123C>T,gcC/gcT,LOW,COSM437809(4),0.427117,0.3135,rs4796854,,,,,,chr17,79899495,79899495,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala41Ala/c.123C>T|307|MYADML2|protein_coding|CODING|NM_001145113.2|3|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.4806,0.451,0.5905,0.54,0.38,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ASPSCR1,SILENT,NM_001251888.1:p.Pro80Pro/c.240C>T,ccC/ccT,LOW,COSM1387380(1),0.0125799,0,rs11539917,,,,,,chr17,79941511,79941511,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro80Pro/c.240C>T|647|ASPSCR1|protein_coding|CODING|NM_001251888.1|3|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro80Pro/c.240C>T|553|ASPSCR1|protein_coding|CODING|NM_024083.3|3|1),non_coding_exon_variant(MODIFIER|||n.281C>T||ASPSCR1||CODING|NR_045351.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0245,0.0231,0.0209,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,ASPSCR1,MISSENSE,NM_001251888.1:p.Leu252Gln/c.755T>A,cTg/cAg,MODERATE,COSM3720890(2),0.382788,0.2063,rs8074498,0.03(D),"0.999,0.999,0.997,0.999(D,D,D,D)",2.395(M),-0.8671(T),,chr17,79954544,79954544,T,A,hom,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu252Gln/c.755T>A|647|ASPSCR1|protein_coding|CODING|NM_001251888.1|7|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu252Gln/c.755T>A|553|ASPSCR1|protein_coding|CODING|NM_024083.3|7|1),non_coding_exon_variant(MODIFIER|||n.796T>A||ASPSCR1||CODING|NR_045351.1|6|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:H3K79me2,HepG2:DNase1,GM06990:H3K36me3",,,,0.4029,0.4467,0.5755,0.50,0.35,0.57,,0.000002(D),0.000(P),"1.19,1.19(T,T)",0.0000(T),0.562,1.267684,4.93,4.93,0.459000,2.065000,4.845000,0.318000,0.997000,1.000000,12.9407
synonymous_variant,ASPSCR1,SILENT,NM_001251888.1:p.Asp581Asp/c.1743T>C,gaT/gaC,LOW,COSM4130838(1),0.580272,0.2788,rs13087,,,,,,chr17,79974731,79974731,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp581Asp/c.1743T>C|647|ASPSCR1|protein_coding|CODING|NM_001251888.1|15|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp487Asp/c.1461T>C|553|ASPSCR1|protein_coding|CODING|NM_024083.3|14|1),downstream_gene_variant(MODIFIER||1848||81|STRA13|protein_coding|CODING|NM_001271006.1||1),downstream_gene_variant(MODIFIER||1848||58|STRA13|protein_coding|CODING|NM_001271007.1||1),downstream_gene_variant(MODIFIER||1848||63|STRA13|protein_coding|CODING|NM_144998.3||1),non_coding_exon_variant(MODIFIER|||n.1502T>C||ASPSCR1||CODING|NR_045351.1|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5838,0.5821,0.5974,0.65,0.76,0.59,,,,,,,,,,,,,,,,
missense_variant,RFNG,MISSENSE,NM_002917.1:p.His288Gln/c.864T>G,caT/caG,MODERATE,,0.530551,0.3085,rs12948507,0.3(T),0.033(B),1.39(L),-0.9864(T),,chr17,80006957,80006957,A,C,het,missense_variant(MODERATE|MISSENSE|caT/caG|p.His288Gln/c.864T>G|331|RFNG|protein_coding|CODING|NM_002917.1|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.502,0.6412,0.663,0.66,0.58,0.70,,0.213767(N),1.000(P),0.02(T),0.0000(T),0.053,-0.752795,3.55,-7.1,0.456000,-1.985000,-1.536000,0.107000,0.030000,0.000000,3.15
synonymous_variant,RFNG,SILENT,NM_002917.1:p.Ala153Ala/c.459C>A,gcC/gcA,LOW,COSM329592(1),0.541334,0.3085,rs9916764,,,,,,chr17,80008392,80008392,G,T,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala153Ala/c.459C>A|331|RFNG|protein_coding|CODING|NM_002917.1|4|1),upstream_gene_variant(MODIFIER||1371||491|GPS1|protein_coding|CODING|NM_004127.4||1),upstream_gene_variant(MODIFIER||1371||527|GPS1|protein_coding|CODING|NM_212492.1||1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4765,0.6254,0.6203,0.65,0.66,0.65,,,,,,,,,,,,,,,,
synonymous_variant,DUS1L,SILENT,NM_022156.4:p.Thr145Thr/c.435G>A,acG/acA,LOW,,0.127396,0.0377,rs11542332,,,,,,chr17,80020812,80020812,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr145Thr/c.435G>A|473|DUS1L|protein_coding|CODING|NM_022156.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1176,0.1225,0.0537,0.11,0.22,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FASN,SILENT,NM_004104.4:p.Ile2134Ile/c.6402C>T,atC/atT,LOW,COSM3766217(1),0.303914,0.2996,rs1140616,,,,,,chr17,80039481,80039481,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile2134Ile/c.6402C>T|2511|FASN|protein_coding|CODING|NM_004104.4|37|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3047,0.2867,0.4791,0.42,0.22,0.52,,,,,,,,,,,,,,,,
synonymous_variant,FASN,SILENT,NM_004104.4:p.Ala1247Ala/c.3741T>C,gcT/gcC,LOW,COSM437819(1),0.236022,0.2877,rs2229422,,,,,,chr17,80043739,80043739,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1247Ala/c.3741T>C|2511|FASN|protein_coding|CODING|NM_004104.4|23|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1769,0.2032,0.3121,0.28,0.23,0.31,,,,,,,,,,,,,,,,
synonymous_variant,FASN,SILENT,NM_004104.4:p.Asn189Asn/c.567T>C,aaT/aaC,LOW,COSM3756037(2),0.391773,0.1746,rs2228309,,,,,,chr17,80051183,80051183,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn189Asn/c.567T>C|2511|FASN|protein_coding|CODING|NM_004104.4|5|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:HEY1,GM06990:H3K36me3",,,,0.4284,0.3674,0.5139,0.54,0.50,0.56,,,,,,,,,,,,,,,,
missense_variant,CCDC57,MISSENSE,NM_198082.2:p.Val480Met/c.1438G>A,Gtg/Atg,MODERATE,COSM4130852(2),0.572684,0.8631,rs7209474,0.12(T),"0.173,0.173(B,B)",1.5(L),-0.9889(T),,chr17,80136418,80136418,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val480Met/c.1438G>A|915|CCDC57|protein_coding|CODING|NM_198082.2|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5419,0.6239,0.4841,0.41,0.38,0.43,,0.804002(N),1.000(P),"2.82,2.82,1.64(T,T,T)",0.0000(T),0.113,1.477704,4.71,-4.43,-0.181000,-0.582000,-1.103000,0.015000,0.031000,0.001000,1.2328
synonymous_variant,CCDC57,SILENT,NM_198082.2:p.Asp251Asp/c.753C>T,gaC/gaT,LOW,COSM3766224(1),0.598642,0.8631,rs386428761,,,,,,chr17,80151881,80151881,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp251Asp/c.753C>T|915|CCDC57|protein_coding|CODING|NM_198082.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5245,0.6282,0.4821,0.43,0.45,0.42,,,,,,,,,,,,,,,,
synonymous_variant,CCDC57,SILENT,NM_198082.2:p.Glu85Glu/c.255A>G,gaA/gaG,LOW,,0.823482,0.9276,rs8072670,,,,,,chr17,80159566,80159566,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu85Glu/c.255A>G|915|CCDC57|protein_coding|CODING|NM_198082.2|2|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7587,0.817,0.7087,0.75,0.87,0.69,,,,,,,,,,,,,,,,
synonymous_variant,SLC16A3,SILENT,NM_001042422.2:p.Gly312Gly/c.936T>C,ggT/ggC,LOW,COSM4130854(2),0.999201,1,rs9303026,,,,,,chr17,80195582,80195582,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly312Gly/c.936T>C|465|SLC16A3|protein_coding|CODING|NM_001042422.2|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly312Gly/c.936T>C|465|SLC16A3|protein_coding|CODING|NM_001042423.2|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly312Gly/c.936T>C|465|SLC16A3|protein_coding|CODING|NM_001206950.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly312Gly/c.936T>C|465|SLC16A3|protein_coding|CODING|NM_001206951.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly312Gly/c.936T>C|465|SLC16A3|protein_coding|CODING|NM_001206952.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly312Gly/c.936T>C|465|SLC16A3|protein_coding|CODING|NM_004207.3|4|1),downstream_gene_variant(MODIFIER||978|||MIR6787||NON_CODING|NR_106845.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,1,1,0.996,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,OGFOD3,SILENT,NM_024648.2:p.Ile301Ile/c.903C>T,atC/atT,LOW,,0.319888,0.3581,rs11903,,,,,,chr17,80350331,80350331,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile301Ile/c.903C>T|319|OGFOD3|protein_coding|CODING|NM_024648.2|9|1),3_prime_UTR_variant(MODIFIER||1916|c.*120C>T|331|OGFOD3|protein_coding|CODING|NM_175902.4|10|1),non_coding_exon_variant(MODIFIER|||n.1260C>T||OGFOD3||CODING|NR_033265.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4519,0.4409,0.2117,0.20,0.21,0.19,,,,,,,,,,,,,,,,
synonymous_variant,OGFOD3,SILENT,NM_175902.4:p.Pro42Pro/c.126G>A,ccG/ccA,LOW,COSM3756044(4),0.327476,0.6687,rs4789769,,,,,,chr17,80373452,80373452,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro42Pro/c.126G>A|319|OGFOD3|protein_coding|CODING|NM_024648.2|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro42Pro/c.126G>A|331|OGFOD3|protein_coding|CODING|NM_175902.4|2|1),non_coding_exon_variant(MODIFIER|||n.278G>A||OGFOD3||CODING|NR_033265.1|2|1)","CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,K562:Nrsf,GM06990:H3K36me3,GM12878:Nrsf",,,,0.1922,0.2464,0.2515,0.24,0.27,0.22,,,,,,,,,,,,,,,,
synonymous_variant,HEXDC,SILENT,NM_173620.2:p.Thr5Thr/c.15T>G,acT/acG,LOW,COSM3756045(1),0.48143,0.7123,rs1141463,,,,,,chr17,80377690,80377690,T,G,het,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr5Thr/c.15T>G|585|HEXDC|protein_coding|CODING|NM_173620.2|2|1),upstream_gene_variant(MODIFIER||1177||319|OGFOD3|protein_coding|CODING|NM_024648.2||1),upstream_gene_variant(MODIFIER||1177||331|OGFOD3|protein_coding|CODING|NM_175902.4||1),upstream_gene_variant(MODIFIER||1177|||OGFOD3||CODING|NR_033265.1||1)","GM12878:H3K4me3,GM12878:H3K27ac,IMR90:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.2464,0.3545,0.333,0.40,0.62,0.30,,,,,,,,,,,,,,,,
missense_variant,HEXDC,MISSENSE,NM_173620.2:p.Ile145Val/c.433A>G,Atc/Gtc,MODERATE,COSM3756046(1),0.563299,0.9018,rs4789773,0.19(T),"0.012,0.137(B,B)",1.91(M),-0.9622(T),,chr17,80391684,80391684,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile145Val/c.433A>G|585|HEXDC|protein_coding|CODING|NM_173620.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4571,0.6239,0.3678,0.38,0.47,0.34,,0.000837(N),0.994(P),"-2.86,-2.86(D,D)",0.0000(T),0.31,0.016250,5.3,0.0361,-0.971000,-0.641000,0.196000,0.008000,0.740000,0.949000,10.9334
synonymous_variant,FN3KRP,SILENT,NM_024619.3:p.Leu4Leu/c.12C>G,ctC/ctG,LOW,COSM3756049(4),0.99381,1,rs2250000,,,,,,chr17,80674643,80674643,C,G,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4Leu/c.12C>G|309|FN3KRP|protein_coding|CODING|NM_024619.3|1|1),non_coding_exon_variant(MODIFIER|||n.62C>G||FN3KRP||CODING|NR_046408.1|1|1)","H1ESC:PolII,K562:Max,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,1,0.9986,0.999,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FN3K,SILENT,NM_022158.3:p.Arg63Arg/c.187A>C,Agg/Cgg,LOW,,0.995008,1,rs2253149,,,,,,chr17,80696410,80696410,A,C,hom,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg63Arg/c.187A>C|309|FN3K|protein_coding|CODING|NM_022158.3|2|1),"HepG2:RXRA,H1ESC:H3K36me3,K562:Max,HepG2:p300,HepG2:Sin3Ak20,HUVEC:H3K36me3,K562:H3K36me3,HepG2:HDAC2,HepG2:USF1,HepG2:PolII,HepG2:SP1,K562:Cmyc,IMR90:H3K36me3,K562:E2F6,HepG2:HNF4A,HepG2:FOSL2,HepG2:FOXA2,HepG2:H3K36me3,HepG2:FOXA1,HepG2:DNase1,HepG2:Yy1,HepG2:Jund,HepG2:Cmyc,K562:DNase1",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
synonymous_variant,FN3K,SILENT,NM_022158.3:p.Ser300Ser/c.900C>G,tcC/tcG,LOW,COSM4130870(1),0.655152,0.6518,rs1056534,,,,,,chr17,80708601,80708601,C,G,hom,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser300Ser/c.900C>G|309|FN3K|protein_coding|CODING|NM_022158.3|6|1),upstream_gene_variant(MODIFIER||1339||1192|TBCD|protein_coding|CODING|NM_005993.4||1)","H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1",,,,0.6708,0.6686,0.6014,0.62,0.64,0.61,,,,,,,,,,,,,,,,
missense_variant,ZNF750,MISSENSE,NM_024702.2:p.Met235Val/c.703A>G,Atg/Gtg,MODERATE,COSM1178452(2),0.124601,0.0833,rs8074277,,0.003(B),0.4(N),-0.9483(T),,chr17,80789628,80789628,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met235Val/c.703A>G|723|ZNF750|protein_coding|CODING|NM_024702.2|2|1),intron_variant(MODIFIER|||c.1318+16818T>C|1192|TBCD|protein_coding|CODING|NM_005993.4|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0266,0.3026,0.1362,0.16,0.13,0.18,,0.814918(N),0.978(P),2.56(T),0.0000(T),0.036,0.872179,5.77,-11.4,-0.256000,-2.288000,-1.308000,0.765000,0.001000,0.000000,13.1455
missense_variant,TBCD,MISSENSE,NM_005993.4:p.Met617Thr/c.1850T>C,aTg/aCg,MODERATE,COSM3756052(2),0.486022,0.2609,rs2292971,,"0.0,0.0,0.0(B,B,B)",-1.14(N),-0.9503(T),,chr17,80863857,80863857,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met617Thr/c.1850T>C|1192|TBCD|protein_coding|CODING|NM_005993.4|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5419,0.3703,0.4573,0.51,0.67,0.43,,0.066222(N),1.000(P),"-0.24,-0.24(T,T)",0.0000(T),0.296,-2.677429,5.18,1.93,-0.735000,-0.066000,0.028000,0.000000,0.053000,0.010000,3.3001
missense_variant,TBCD,MISSENSE,NM_005993.4:p.Glu1097Gly/c.3290A>G,gAg/gGg,MODERATE,COSM437857(3),0.930911,0.9355,rs3785522,,"0.0,0.0,0.0(B,B,B)",-2.215(N),-0.9768(T),,chr17,80895933,80895933,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu1097Gly/c.3290A>G|1192|TBCD|protein_coding|CODING|NM_005993.4|36|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9703,0.8689,0.8588,0.87,0.96,0.82,,0.000002(N),0.000(P),2.34(T),0.0000(T),0.135,-1.681934,4.93,2.91,-2.314000,-0.002000,2.702000,0.005000,0.257000,1.000000,11.6931
synonymous_variant,B3GNTL1,SILENT,NM_001009905.1:p.His79His/c.237C>T,caC/caT,LOW,COSM4130877(1),0.285543,0.3661,rs1143006,,,,,,chr17,81006387,81006387,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His79His/c.237C>T|361|B3GNTL1|protein_coding|CODING|NM_001009905.1|3|1),"HepG2:H3K4me2,HeLa-S3:DNase1,CD4:DNase1,K562:H3K36me3,HepG2:H3K27ac,IMR90:DNase1,HepG2:USF1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:FOSL2,HepG2:FOXA2,HUVEC:FAIRE,HepG2:H3K36me3,CD4:H3K4me2,HepG2:FOXA1,HUVEC:H3K27ac,HepG2:DNase1,HMEC:DNase1,HepG2:Jund",,,,0.2444,0.2709,0.2962,0.27,0.25,0.28,,,,,,,,,,,,,,,,
synonymous_variant,METRNL,SILENT,NM_001004431.1:p.Pro132Pro/c.396A>G,ccA/ccG,LOW,COSM437858(1),0.786741,0.9167,rs9908756,,,,,,chr17,81043039,81043039,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro132Pro/c.396A>G|311|METRNL|protein_coding|CODING|NM_001004431.1|2|1),"HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.7607,0.7507,0.6213,0.69,0.83,0.61,,,,,,,,,,,,,,,,
missense_variant,METRNL,MISSENSE,NM_001004431.1:p.His249Arg/c.746A>G,cAc/cGc,MODERATE,,0.00219649,0,rs142120953,,0.001(B),-0.49(N),-1.0305(T),,chr17,81052130,81052130,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His249Arg/c.746A>G|311|METRNL|protein_coding|CODING|NM_001004431.1|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0,0,0.0109,0.01,0.00,0.01,,0.705393(U),0.998(N),1.63(T),0.0156(T),0.056,-1.631381,2.7,-5.4,-0.516000,-1.385000,1.901000,0.066000,0.827000,0.999000,0.2884
synonymous_variant,THOC1,SILENT,NM_005131.2:p.Asp219Asp/c.657C>T,gaC/gaT,LOW,,0.954673,1,rs657138,,,,,,chr18,252559,252559,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp219Asp/c.657C>T|657|THOC1|protein_coding|CODING|NM_005131.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9841,1,0.95,0.85,1.00,,,,,,,,,,,,,,,,
missense_variant,COLEC12,MISSENSE,NM_130386.2:p.Gly606Ser/c.1816G>A,Ggc/Agc,MODERATE,COSM4130968(1),0.367612,0.4563,rs2305027,,0.998(D),1.905(M),-0.8984(T),,chr18,334742,334742,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly606Ser/c.1816G>A|742|COLEC12|protein_coding|CODING|NM_130386.2|6|1),splice_region_variant(LOW|||c.1816G>A|742|COLEC12|protein_coding|CODING|NM_130386.2|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.3108,0.3473,0.493,0.43,0.29,0.50,,0.000107(D),0.000(P),2.35(T),0.0000(T),0.168,3.156627,5.39,4.5,0.561000,1.232000,5.137000,0.058000,0.967000,1.000000,14.4479
synonymous_variant,COLEC12,SILENT,NM_130386.2:p.Pro600Pro/c.1800A>G,ccA/ccG,LOW,COSM4130969(1),0.884984,0.9861,rs2305026,,,,,,chr18,334758,334758,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro600Pro/c.1800A>G|742|COLEC12|protein_coding|CODING|NM_130386.2|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.7618,0.8746,0.8469,0.86,0.91,0.83,,,,,,,,,,,,,,,,
missense_variant,COLEC12,MISSENSE,NM_130386.2:p.Ser522Pro/c.1564T>C,Tcc/Ccc,MODERATE,COSM438093(2),0.6252,0.7907,rs2305025,0.48(T),0.0(B),-2.235(N),-0.9051(T),,chr18,334994,334994,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser522Pro/c.1564T>C|742|COLEC12|protein_coding|CODING|NM_130386.2|6|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.5215,0.572,0.6103,0.62,0.62,0.62,,0.003939(N),1.000(P),-2.09(D),0.0000(T),0.12,-1.404266,5.67,2.81,-0.733000,0.041000,0.108000,0.548000,0.897000,0.068000,7.4255
synonymous_variant,COLEC12,SILENT,NM_130386.2:p.Thr267Thr/c.801G>A,acG/acA,LOW,COSM1388632(1),0.233227,0.2153,rs3826628,,,,,,chr18,346821,346821,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr267Thr/c.801G>A|742|COLEC12|protein_coding|CODING|NM_130386.2|5|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2699,0.2839,0.2545,0.23,0.18,0.25,,,,,,,,,,,,,,,,
missense_variant,TYMSOS,MISSENSE,NM_001012716.2:p.Arg62Gly/c.184C>G,Cgc/Ggc,MODERATE,COSM3756198(7),0.339058,0.5476,rs2853533,0(D),0.681(P),0(N),-0.9342(T),,chr18,658064,658064,G,C,het,"missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg62Gly/c.184C>G|123|TYMSOS|protein_coding|CODING|NM_001012716.2|1|1),intron_variant(MODIFIER|||c.205+117G>C|313|TYMS|protein_coding|CODING|NM_001071.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HeLa-S3:DNase1,HSMM:H2AZ,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.3599,0.2176,0.1451,0.20,0.34,0.13,,,1.000(P),0.49(T),0.0000(T),0.078,0.869385,2.65,1.7,0.555000,0.615000,0.132000,0.007000,0.000000,0.000000,8.0251
synonymous_variant,YES1,SILENT,NM_005433.3:p.Leu482Leu/c.1444T>C,Tta/Cta,LOW,,0.989816,1,rs537141,,,,,,chr18,724612,724612,A,G,hom,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu482Leu/c.1444T>C|543|YES1|protein_coding|CODING|NM_005433.3|12|1),"HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.999,0.9971,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ADCYAP1,SILENT,NM_001099733.1:p.Ala42Ala/c.126G>A,gcG/gcA,LOW,COSM438418(7),0.702077,0.8492,rs8192597,,,,,,chr18,907675,907675,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala42Ala/c.126G>A|176|ADCYAP1|protein_coding|CODING|NM_001099733.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala42Ala/c.126G>A|176|ADCYAP1|protein_coding|CODING|NM_001117.4|2|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.7863,0.7622,0.6889,0.65,0.54,0.71,,,,,,,,,,,,,,,,
missense_variant,METTL4,MISSENSE,NM_022840.3:p.Val468Leu/c.1402G>C,Gtg/Ctg,MODERATE,,0.973642,1,rs8084295,1(T),0.0(B),-1.495(N),-0.9853(T),,chr18,2539016,2539016,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val468Leu/c.1402G>C|472|METTL4|protein_coding|CODING|NM_022840.3|9|1),"HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,1,0.987,1,0.98,0.93,1.00,,0.117208(N),0.998(P),,0.0000(T),0.04,-1.762986,5.29,2.45,-0.812000,0.610000,-0.312000,0.842000,0.973000,0.000000,5.9189
missense_variant,METTL4,MISSENSE,NM_022840.3:p.Gln310Lys/c.928C>A,Cag/Aag,MODERATE,,0.593051,0.3462,rs2677879,1(T),0.0(B),-1.825(N),-0.9050(T),,chr18,2547500,2547500,G,T,het,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln310Lys/c.928C>A|472|METTL4|protein_coding|CODING|NM_022840.3|6|1),"NHEK:CTCF,H1ESC:H3K36me3,CD4:DNase1,K562:CTCF,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.5951,0.4841,0.6292,0.68,0.79,0.62,,0.000014(N),1.000(P),1.01(T),0.0000(T),0.287,1.505748,5.57,3.08,-1.170000,0.109000,2.867000,0.625000,0.991000,1.000000,14.154
synonymous_variant,SMCHD1,SILENT,NM_015295.2:p.Ala58Ala/c.174G>C,gcG/gcC,LOW,COSM3756107(5),0.630591,0.3274,rs2430853,,,,,,chr18,2656248,2656248,G,C,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala58Ala/c.174G>C|2005|SMCHD1|protein_coding|CODING|NM_015295.2|1|1),upstream_gene_variant(MODIFIER||854|||CBX3P2||NON_CODING|NR_033754.2||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.6626,0.6009,0.5497,0.64,0.85,0.55,,,,,,,,,,,,,,,,
synonymous_variant,SMCHD1,SILENT,NM_015295.2:p.Thr617Thr/c.1851A>G,acA/acG,LOW,,0.584665,0.7103,rs635132,,,,,,chr18,2705700,2705700,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr617Thr/c.1851A>G|2005|SMCHD1|protein_coding|CODING|NM_015295.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.7277,0.7177,0.61,0.35,0.73,,,,,,,,,,,,,,,,
missense_variant,SMCHD1,MISSENSE,NM_015295.2:p.Val708Ile/c.2122G>A,Gtt/Att,MODERATE,COSM3932818(3),0.690296,0.6528,rs2276092,0.47(T),0.001(B),0.695(N),-1.0318(T),,chr18,2707619,2707619,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val708Ile/c.2122G>A|2005|SMCHD1|protein_coding|CODING|NM_015295.2|16|1),"NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6299,0.7839,0.6909,0.71,0.73,0.70,,0.428667(N),1.000(P),"1.95,1.95(T,T)",0.0000(T),0.092,1.566563,5.46,0.384,-0.360000,-0.155000,0.281000,0.982000,0.397000,0.000000,11.4814
missense_variant,SMCHD1,MISSENSE,NM_015295.2:p.Lys879Asn/c.2637A>T,aaA/aaT,MODERATE,COSM3756110(3),0.20627,0.1915,rs633422,0.28(T),0.0(B),0.805(L),-0.9036(T),,chr18,2724930,2724930,A,T,het,missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys879Asn/c.2637A>T|2005|SMCHD1|protein_coding|CODING|NM_015295.2|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1605,0.2925,0.4553,0.33,0.08,0.44,,0.000539(D),0.284(P),"1.8,1.8(T,T)",0.0000(T),0.078,1.976754,5.6,3.1,0.533000,0.363000,1.045000,0.999000,1.000000,0.993000,5.7568
synonymous_variant,SMCHD1,SILENT,NM_015295.2:p.Thr1176Thr/c.3528A>G,acA/acG,LOW,COSM3756112(2),0.386182,0.5228,rs12327477,,,,,,chr18,2740714,2740714,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr1176Thr/c.3528A>G|2005|SMCHD1|protein_coding|CODING|NM_015295.2|28|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4877,0.4467,0.2634,0.28,0.26,0.28,,,,,,,,,,,,,,,,
synonymous_variant,SMCHD1,SILENT,NM_015295.2:p.Ala1379Ala/c.4137A>G,gcA/gcG,LOW,COSM3756117(1),0.385982,0.5218,rs2304859,,,,,,chr18,2750477,2750477,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1379Ala/c.4137A>G|2005|SMCHD1|protein_coding|CODING|NM_015295.2|32|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4877,0.4467,0.2634,0.28,0.26,0.28,,,,,,,,,,,,,,,,
synonymous_variant,SMCHD1,SILENT,NM_015295.2:p.Gly1543Gly/c.4629C>T,ggC/ggT,LOW,COSM1388388(2),0.275759,0.1895,rs483547,,,,,,chr18,2763697,2763697,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1543Gly/c.4629C>T|2005|SMCHD1|protein_coding|CODING|NM_015295.2|37|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1605,0.317,0.4612,0.40,0.30,0.44,,,,,,,,,,,,,,,,
synonymous_variant,EMILIN2,SILENT,NM_032048.2:p.Asn138Asn/c.414C>T,aaC/aaT,LOW,,0.170527,0.0119,rs592120,,,,,,chr18,2885118,2885118,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn138Asn/c.414C>T|1053|EMILIN2|protein_coding|CODING|NM_032048.2|3|1),HepG2:H3K27me3,,,,0.1759,0.2406,0.3668,0.29,0.15,0.37,,,,,,,,,,,,,,,,
synonymous_variant,EMILIN2,SILENT,NM_032048.2:p.Asn451Asn/c.1353T>C,aaT/aaC,LOW,COSM148373(2),0.0760783,0.2024,rs3810067,,,,,,chr18,2891478,2891478,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn451Asn/c.1353T>C|1053|EMILIN2|protein_coding|CODING|NM_032048.2|4|1),"GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0746,0.0418,0.0209,0.03,0.03,0.03,,,,,,,,,,,,,,,,
synonymous_variant,EMILIN2,SILENT,NM_032048.2:p.Gln783Gln/c.2349G>A,caG/caA,LOW,COSM3756118(3),0.158546,0.1111,rs16943989,,,,,,chr18,2892474,2892474,G,A,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln783Gln/c.2349G>A|1053|EMILIN2|protein_coding|CODING|NM_032048.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3149,0.0908,0.1402,0.13,0.11,0.14,,,,,,,,,,,,,,,,
synonymous_variant,DLGAP1,SILENT,NM_004746.3:p.Thr624Thr/c.1872C>T,acC/acT,LOW,,0.123003,0.005,rs56017170,,,,,,chr18,3581966,3581966,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr308Thr/c.924C>T|661|DLGAP1|protein_coding|CODING|NM_001242762.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|675|DLGAP1|protein_coding|CODING|NM_001003809.2|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr624Thr/c.1872C>T|929|DLGAP1|protein_coding|CODING|NM_001242761.1|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr346Thr/c.1038C>T|699|DLGAP1|protein_coding|CODING|NM_001242763.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr330Thr/c.990C>T|683|DLGAP1|protein_coding|CODING|NM_001242764.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|627|DLGAP1|protein_coding|CODING|NM_001242765.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr332Thr/c.996C>T|685|DLGAP1|protein_coding|CODING|NM_001242766.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr624Thr/c.1872C>T|977|DLGAP1|protein_coding|CODING|NM_004746.3|8|1)","GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1063,0.2291,0.3062,0.20,0.06,0.27,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB14,SILENT,NM_001143823.2:p.Thr59Thr/c.177T>C,acT/acC,LOW,,0.84345,0.8254,rs620652,,,,,,chr18,5292030,5292030,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr59Thr/c.177T>C|449|ZBTB14|protein_coding|CODING|NM_001143823.2|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr59Thr/c.177T>C|449|ZBTB14|protein_coding|CODING|NM_001243702.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr59Thr/c.177T>C|449|ZBTB14|protein_coding|CODING|NM_001243704.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr59Thr/c.177T>C|449|ZBTB14|protein_coding|CODING|NM_003409.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7955,0.8401,0.8032,0.86,0.92,0.83,,,,,,,,,,,,,,,,
synonymous_variant,EPB41L3,SILENT,NM_012307.3:p.Thr704Thr/c.2112T>C,acT/acC,LOW,,0.711661,0.9177,rs3817466,,,,,,chr18,5410574,5410574,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr535Thr/c.1605T>C|883|EPB41L3|protein_coding|CODING|NM_001281533.1|13|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr535Thr/c.1605T>C|865|EPB41L3|protein_coding|CODING|NM_001281534.1|13|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr426Thr/c.1278T>C|756|EPB41L3|protein_coding|CODING|NM_001281535.1|15|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr704Thr/c.2112T>C|1087|EPB41L3|protein_coding|CODING|NM_012307.3|14|1)",HUVEC:H3K36me3,,,,0.8027,0.8156,0.9135,,,,,,,,,,,,,,,,,,,
synonymous_variant,TMEM200C,SILENT,NM_001080209.1:p.Pro142Pro/c.426G>T,ccG/ccT,LOW,COSM4131042(1),0.340256,0.2986,rs28656885,,,,,,chr18,5891637,5891637,C,A,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro142Pro/c.426G>T|621|TMEM200C|protein_coding|CODING|NM_001080209.1|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2362,0.3444,0.3598,0.40,0.43,0.38,,,,,,,,,,,,,,,,
missense_variant,L3MBTL4,MISSENSE,NM_173464.3:p.Gly618Asp/c.1853G>A,gGc/gAc,MODERATE,COSM1389481(1),0.384784,0.4742,rs3737353,0.17(T),"0.019,0.043(B,B)",0.69(N),-0.9218(T),,chr18,5956238,5956238,C,T,hom,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly618Asp/c.1853G>A|623|L3MBTL4|protein_coding|CODING|NM_173464.3|20|1),HepG2:H3K36me3,,,,0.4836,0.2723,0.3976,0.36,0.29,0.39,,0.097387(N),1.000(P),"2.34,2.36,2.34,2.36(T,T,T,T)",0.0000(T),0.074,1.432921,5.49,2.78,-0.880000,0.310000,0.125000,0.006000,0.010000,0.015000,7.854
missense_variant,ARHGAP28,MISSENSE,NM_001010000.2:p.Gln568Pro/c.1703A>C,cAa/cCa,MODERATE,,0.729233,0.627,rs1056408,1(T),0.0(B),-0.75(N),-0.9993(T),,chr18,6912143,6912143,A,C,het,missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln568Pro/c.1703A>C|570|ARHGAP28|protein_coding|CODING|NM_001010000.2|17|1),"HSMM:H3K36me3,IMR90:H3K36me3",,,,0.6391,0.7233,0.8678,0.84,0.79,0.86,,,0.424(P),"3.23,3.22,3.23(T,T,T)",0.0000(T),0.095,-0.509013,5.86,4.06,-0.770000,0.394000,1.172000,0.013000,0.002000,0.638000,8.8827
synonymous_variant,LAMA1,SILENT,NM_005559.3:p.Asp2994Asp/c.8982C>T,gaC/gaT,LOW,COSM148377(2),0.286142,0.3413,rs2016639,,,,,,chr18,6943264,6943264,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2994Asp/c.8982C>T|3075|LAMA1|protein_coding|CODING|NM_005559.3|62|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:FOXA2,HeLa-S3:H3K36me3,HepG2:FOXA1",,,,0.4611,0.4006,0.331,0.24,0.07,0.33,,,,,,,,,,,,,,,,
missense_variant,LAMA1,MISSENSE,NM_005559.3:p.Ile2076Thr/c.6227T>C,aTt/aCt,MODERATE,COSM4000462(1),0.273962,0.0893,rs671871,0.53(T),0.0(B),-1.1(N),-0.9427(T),,chr18,6977844,6977844,A,G,het,missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile2076Thr/c.6227T>C|3075|LAMA1|protein_coding|CODING|NM_005559.3|44|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.1329,0.2089,0.172,0.30,0.54,0.18,,0.181313(N),1.000(P),1.0(T),0.0000(T),0.049,0.290674,5.1,2.15,-0.119000,0.209000,1.200000,0.939000,0.949000,0.989000,5.0817
missense_variant,LAMA1,MISSENSE,NM_005559.3:p.Lys2002Glu/c.6004A>G,Aaa/Gaa,MODERATE,,0.69369,0.8244,rs607230,1(T),0.0(B),-1.5(N),-0.9936(T),,chr18,6980523,6980523,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys2002Glu/c.6004A>G|3075|LAMA1|protein_coding|CODING|NM_005559.3|42|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,HMEC:DNase1",,,,0.7505,0.7522,0.6909,0.66,0.55,0.71,,0.075234(N),1.000(P),2.23(T),0.0000(T),0.039,0.913995,5.15,3.34,-0.119000,0.691000,1.467000,0.904000,0.413000,0.989000,5.88
synonymous_variant,LAMA1,SILENT,NM_005559.3:p.Leu1797Leu/c.5391G>A,ctG/ctA,LOW,COSM3756200(1),0.552117,0.6687,rs617206,,,,,,chr18,6985631,6985631,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1797Leu/c.5391G>A|3075|LAMA1|protein_coding|CODING|NM_005559.3|38|1),"H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3",,,,0.5695,0.5908,0.4374,0.45,0.50,0.43,,,,,,,,,,,,,,,,
synonymous_variant,LAMA1,SILENT,NM_005559.3:p.Ser1493Ser/c.4479A>G,tcA/tcG,LOW,COSM3756203(1),0.466254,0.2708,rs625106,,,,,,chr18,6999628,6999628,T,C,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1493Ser/c.4479A>G|3075|LAMA1|protein_coding|CODING|NM_005559.3|32|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.3988,0.3112,0.4215,0.52,0.69,0.44,,,,,,,,,,,,,,,,
synonymous_variant,LAMA1,SILENT,NM_005559.3:p.His1472His/c.4416C>T,caC/caT,LOW,COSM3756204(1),0.0804712,0.001,rs12970643,,,,,,chr18,6999963,6999963,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1472His/c.4416C>T|3075|LAMA1|protein_coding|CODING|NM_005559.3|31|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.0542,0.0663,0.0905,0.11,0.15,0.09,,,,,,,,,,,,,,,,
synonymous_variant,PTPRM,SILENT,NM_001105244.1:p.Asn439Asn/c.1317C>T,aaC/aaT,LOW,COSM4000474(1),0.474441,0.2946,rs2230601,,,,,,chr18,8069868,8069868,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn439Asn/c.1317C>T|1465|PTPRM|protein_coding|CODING|NM_001105244.1|8|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn439Asn/c.1317C>T|1452|PTPRM|protein_coding|CODING|NM_002845.3|8|1)","HMEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.501,0.5159,0.5239,0.53,0.57,0.52,,,,,,,,,,,,,,,,
synonymous_variant,PTPRM,SILENT,NM_001105244.1:p.Glu1390Glu/c.4170G>A,gaG/gaA,LOW,COSM4000476(1),0.634385,0.7361,rs386600535,,,,,,chr18,8387195,8387195,G,A,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1390Glu/c.4170G>A|1465|PTPRM|protein_coding|CODING|NM_001105244.1|31|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1377Glu/c.4131G>A|1452|PTPRM|protein_coding|CODING|NM_002845.3|29|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6063,0.7882,0.6779,0.63,0.52,0.69,,,,,,,,,,,,,,,,
synonymous_variant,PTPRM,SILENT,NM_001105244.1:p.Thr1398Thr/c.4194G>C,acG/acC,LOW,,0.737819,0.7917,rs593950,,,,,,chr18,8387219,8387219,G,C,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr1398Thr/c.4194G>C|1465|PTPRM|protein_coding|CODING|NM_001105244.1|31|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr1385Thr/c.4155G>C|1452|PTPRM|protein_coding|CODING|NM_002845.3|29|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6738,0.8228,0.7266,0.73,0.72,0.73,,,,,,,,,,,,,,,,
missense_variant,MTCL1,MISSENSE,NM_015210.3:p.Met242Thr/c.725T>C,aTg/aCg,MODERATE,COSM3756230(2),0.411741,0.5397,rs35739383,0.13(T),"0.076,0.104(B,B)",1.1(L),-0.9673(T),,chr18,8783835,8783835,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met242Thr/c.725T>C|1586|MTCL1|protein_coding|CODING|NM_015210.3|6|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4959,0.3415,0.5984,0.46,0.22,0.58,,0.739174(N),0.000(P),"2.47,2.47,2.47(T,T,T)",0.0000(T),0.275,1.252487,5.67,5.67,0.454000,2.170000,6.305000,0.748000,0.409000,1.000000,15.9107
synonymous_variant,MTCL1,SILENT,NM_015210.3:p.Glu420Glu/c.1260A>G,gaA/gaG,LOW,COSM4131115(1),0.915935,0.9623,rs918272,,,,,,chr18,8784370,8784370,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu420Glu/c.1260A>G|1586|MTCL1|protein_coding|CODING|NM_015210.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.954,0.9539,0.9742,0.94,0.87,0.97,,,,,,,,,,,,,,,,
missense_variant,MTCL1,MISSENSE,NM_015210.3:p.Gln501Arg/c.1502A>G,cAg/cGg,MODERATE,COSM3756231(1),0.298123,0.2242,rs1965665,0.49(T),"0.0,0.001(B,B)",-0.205(N),-1.0362(T),,chr18,8784612,8784612,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln501Arg/c.1502A>G|1586|MTCL1|protein_coding|CODING|NM_015210.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.41,0.4697,0.3628,0.31,0.18,0.37,,0.191481(N),1.000(P),"1.57,1.57,1.57(T,T,T)",0.0000(T),0.08,-3.784487,2.99,-5.97,-4.723000,-4.169000,-2.553000,0.000000,0.000000,0.000000,3.1576
missense_variant,MTCL1,MISSENSE,NM_015210.3:p.Asp538Gly/c.1613A>G,gAt/gGt,MODERATE,,0.167732,0.2907,rs3744979,0.67(T),"0.325,0.62(B,P)",1.445(L),-1.0255(T),,chr18,8784723,8784723,A,G,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp538Gly/c.1613A>G|1586|MTCL1|protein_coding|CODING|NM_015210.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0828,0.0908,0.1451,0.16,0.18,0.15,,0.016243(N),0.000(P),"1.12,1.12,1.12(T,T,T)",0.0000(T),0.438,1.083744,4.95,3.77,0.533000,0.714000,7.404000,0.826000,0.859000,1.000000,11.0484
synonymous_variant,MTCL1,SILENT,NM_015210.3:p.Gly1228Gly/c.3684A>G,ggA/ggG,LOW,COSM438417(2),0.589058,0.4038,rs581894,,,,,,chr18,8825192,8825192,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly1228Gly/c.3684A>G|1586|MTCL1|protein_coding|CODING|NM_015210.3|15|1),"H1ESC:H3K36me3,GM12878:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4611,0.6441,0.6342,0.64,0.72,0.59,,,,,,,,,,,,,,,,
synonymous_variant,MTCL1,SILENT,NM_015210.3:p.Thr1525Thr/c.4575G>C,acG/acC,LOW,,0.892173,0.8899,rs3744977,,,,,,chr18,8826083,8826083,G,C,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr1525Thr/c.4575G>C|1586|MTCL1|protein_coding|CODING|NM_015210.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9571,0.8818,0.9771,0.92,0.82,0.97,,,,,,,,,,,,,,,,
missense_variant,NDUFV2,MISSENSE,NM_021074.4:p.Val29Ala/c.86T>C,gTt/gCt,MODERATE,COSM3773839(1),0.778954,0.7063,rs906807,1(T),0.0(B),-1.465(N),-0.9661(T),,chr18,9117867,9117867,T,C,het,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val29Ala/c.86T>C|249|NDUFV2|protein_coding|CODING|NM_021074.4|2|1),"NHEK:H3K27ac,H1ESC:H3K36me3,GM12878:H3K27ac,HSMM:H3K27ac,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K36ac,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HUVEC:H3K4me1,HUVEC:H3K27ac,CD4:H2BK12ac",,RCV000009621.1|RCV000117718.2|RCV000127170.1,,0.8405,0.8026,0.831,0.80,0.76,0.82,,0.003096(N),0.000(P),"1.02,0.96(T,T)",0.0000(T),0.042,-0.511449,5.55,4.67,-0.197000,1.497000,1.537000,0.190000,0.974000,1.000000,11.8551
synonymous_variant,NDUFV2,SILENT,NM_021074.4:p.Val67Val/c.201A>T,gtA/gtT,LOW,COSM4131120(1),0.0750799,0.002,rs41274300,,,,,,chr18,9119489,9119489,A,T,het,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val67Val/c.201A>T|249|NDUFV2|protein_coding|CODING|NM_021074.4|4|1),downstream_gene_variant(MODIFIER||1774|||NDUFV2-AS1||NON_CODING|NR_110771.1||1),downstream_gene_variant(MODIFIER||1774|||NDUFV2-AS1||NON_CODING|NR_110772.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HUVEC:H3K4me1,HeLa-S3:H3K36me3",,RCV000117717.2,,0.0358,0.0634,0.0915,0.13,0.16,0.11,,,,,,,,,,,,,,,,
synonymous_variant,TXNDC2,SILENT,NM_001098529.1:p.Ser138Ser/c.414A>G,tcA/tcG,LOW,COSM3756234(1),0.191693,0.001,rs601874,,,,,,chr18,9886890,9886890,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser138Ser/c.414A>G|553|TXNDC2|protein_coding|CODING|NM_001098529.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser71Ser/c.213A>G|486|TXNDC2|protein_coding|CODING|NM_032243.5|2|1)",HepG2:H3K27me3,,,,0.1922,0.1628,0.2873,0.27,0.26,0.28,,,,,,,,,,,,,,,,
synonymous_variant,TXNDC2,SILENT,NM_001098529.1:p.Ala306Ala/c.918C>T,gcC/gcT,LOW,COSM1389975(1),0.518371,0.8155,rs2240910,,,,,,chr18,9887394,9887394,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala306Ala/c.918C>T|553|TXNDC2|protein_coding|CODING|NM_001098529.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala239Ala/c.717C>T|486|TXNDC2|protein_coding|CODING|NM_032243.5|2|1)",HepG2:H3K27me3,,,,0.456,0.5331,0.4761,0.46,0.40,0.49,,,,,,,,,,,,,,,,
missense_variant,TXNDC2,MISSENSE,NM_001098529.1:p.Glu341Lys/c.1021G>A,Gag/Aag,MODERATE,,0.800319,0.999,rs11081510,,0.021(B),1.585(L),-1.0095(T),,chr18,9887497,9887497,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu341Lys/c.1021G>A|553|TXNDC2|protein_coding|CODING|NM_001098529.1|2|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu274Lys/c.820G>A|486|TXNDC2|protein_coding|CODING|NM_032243.5|2|1)",HepG2:H3K27me3,,,,0.8088,0.8271,0.7137,0.72,0.72,0.72,,,1.000(P),"2.34,2.34(T,T)",0.0000(T),0.035,1.368774,3.86,-3.77,-2.332000,-1.211000,-3.459000,0.000000,0.000000,0.000000,13.3139
missense_variant,TXNDC2,MISSENSE,NM_001098529.1:p.Ser392Tyr/c.1175C>A,tCc/tAc,MODERATE,,,,,,0.967(D),1.495(L),-0.9854(T),,chr18,9887651,9887651,C,A,het,"missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser392Tyr/c.1175C>A|553|TXNDC2|protein_coding|CODING|NM_001098529.1|2|1),missense_variant(MODERATE|MISSENSE|tCc/tAc|p.Ser325Tyr/c.974C>A|486|TXNDC2|protein_coding|CODING|NM_032243.5|2|1)",HepG2:H3K27me3,,,,,,,,,,,0.316948(U),1.000(N),"1.76,1.76(T,T)",0.1194(T),0.089,1.975225,3.77,-0.135,-0.398000,-0.045000,0.228000,0.005000,0.000000,0.000000,8.262
synonymous_variant,TXNDC2,SILENT,NM_001098529.1:p.Glu531Glu/c.1593A>G,gaA/gaG,LOW,COSM1389983(1),0.554712,0.8175,rs2240905,,,,,,chr18,9888069,9888069,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu531Glu/c.1593A>G|553|TXNDC2|protein_coding|CODING|NM_001098529.1|2|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu464Glu/c.1392A>G|486|TXNDC2|protein_coding|CODING|NM_032243.5|2|1)",,,,,0.4571,0.5778,0.4791,0.49,0.49,0.49,,,,,,,,,,,,,,,,
synonymous_variant,VAPA,SILENT,NM_003574.5:p.Gly245Gly/c.735T>C,ggT/ggC,LOW,,0.0111821,0.001,rs3025557,,,,,,chr18,9954058,9954058,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly245Gly/c.735T>C|294|VAPA|protein_coding|CODING|NM_003574.5|7|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly200Gly/c.600T>C|249|VAPA|protein_coding|CODING|NM_194434.2|6|1)","H1ESC:H3K36me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0092,0.0216,0.0288,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,PIEZO2,SILENT,NM_022068.3:p.Ala2292Ala/c.6876C>T,gcC/gcT,LOW,,0.201078,0.1111,rs3748421,,,,,,chr18,10691357,10691357,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2292Ala/c.6876C>T|2752|PIEZO2|protein_coding|CODING|NM_022068.3|44|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.2046,0.3559,0.30,0.16,0.36,,,,,,,,,,,,,,,,
synonymous_variant,PIEZO2,SILENT,NM_022068.3:p.Pro2232Pro/c.6696G>A,ccG/ccA,LOW,,0.219249,0.1111,rs2277860,,,,,,chr18,10696227,10696227,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2232Pro/c.6696G>A|2752|PIEZO2|protein_coding|CODING|NM_022068.3|43|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2239,0.2133,0.3569,0.32,0.24,0.36,,,,,,,,,,,,,,,,
missense_variant,PIEZO2,MISSENSE,NM_022068.3:p.Glu1898Gln/c.5692G>C,Gag/Cag,MODERATE,,0.195687,0.1776,rs4796901,0.04(D),,2.115(M),-1.2048(T),,chr18,10704619,10704619,C,G,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu1898Gln/c.5692G>C|2752|PIEZO2|protein_coding|CODING|NM_022068.3|38|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2843,0.1945,0.2237,0.20,0.15,0.23,,,0.000(P),-0.99(T),0.0004(T),0.301,1.651886,5.38,5.38,0.650000,2.681000,7.411000,0.216000,0.409000,1.000000,19.4958
missense_variant,PIEZO2,MISSENSE,NM_022068.3:p.Arg1611Gln/c.4832G>A,cGa/cAa,MODERATE,,0.160343,0.127,rs2865121,0.46(T),,1.24(L),-1.0673(T),,chr18,10731428,10731428,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1611Gln/c.4832G>A|2752|PIEZO2|protein_coding|CODING|NM_022068.3|33|1),,,,,0.2168,0.1556,0.2694,0.23,0.10,0.28,,,1.000(P),-0.68(T),0.0000(T),0.159,0.555010,5.36,2.57,-0.258000,0.243000,-0.163000,0.157000,0.003000,0.000000,5.9308
synonymous_variant,PIEZO2,SILENT,NM_022068.3:p.Leu1405Leu/c.4215T>A,ctT/ctA,LOW,,0.646965,0.7143,rs8096037,,,,,,chr18,10748603,10748603,A,T,het,synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu1405Leu/c.4215T>A|2752|PIEZO2|protein_coding|CODING|NM_022068.3|28|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.453,0.4308,0.5308,0.66,0.90,0.55,,,,,,,,,,,,,,,,
synonymous_variant,PIEZO2,SILENT,NM_022068.3:p.Asn1264Asn/c.3792C>T,aaC/aaT,LOW,,0.823083,0.9157,rs7407105,,,,,,chr18,10758023,10758023,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1264Asn/c.3792C>T|2752|PIEZO2|protein_coding|CODING|NM_022068.3|25|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.728,0.7334,0.7704,0.82,0.90,0.79,,,,,,,,,,,,,,,,
synonymous_variant,PIEZO2,SILENT,NM_022068.3:p.Leu1002Leu/c.3006C>T,ctC/ctT,LOW,,0.778954,0.8859,rs7241380,,,,,,chr18,10762962,10762962,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu1002Leu/c.3006C>T|2752|PIEZO2|protein_coding|CODING|NM_022068.3|20|1),"GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7249,0.7147,0.7684,0.79,0.79,0.79,,,,,,,,,,,,,,,,
synonymous_variant,PIEZO2,SILENT,NM_022068.3:p.Thr987Thr/c.2961A>G,acA/acG,LOW,,0.838059,0.9157,rs7227167,,,,,,chr18,10763007,10763007,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr987Thr/c.2961A>G|2752|PIEZO2|protein_coding|CODING|NM_022068.3|20|1),"GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.728,0.7421,0.7694,0.84,0.94,0.79,,,,,,,,,,,,,,,,
synonymous_variant,PIEZO2,SILENT,NM_022068.3:p.Leu769Leu/c.2305C>T,Ctg/Ttg,LOW,,0.86242,0.9345,rs386425018,,,,,,chr18,10787047,10787047,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu769Leu/c.2305C>T|2752|PIEZO2|protein_coding|CODING|NM_022068.3|16|1),GM06990:H3K36me3,,,,0.8415,0.879,0.841,0.84,0.81,0.85,,,,,,,,,,,,,,,,
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Leu45Met/c.133C>A,Ctg/Atg,MODERATE,COSM148386(1),0.217252,0.1756,rs8087289,0.11(T),,0.695(N),-0.9319(T),,chr18,11609727,11609727,C,A,het,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu45Met/c.133C>A|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1217,0.147,0.2018,,,,,,0.941(P),,0.0000(T),.,0.087943,.,.,0.074000,0.073000,-0.131000,0.102000,0.101000,0.987000,.
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Val73Leu/c.217G>C,Gtc/Ctc,MODERATE,COSM148387(1),0.183706,0.1558,rs8087666,1(T),,-0.895(N),-1.0549(T),,chr18,11609811,11609811,G,C,het,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val73Leu/c.217G>C|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1207,0.1383,0.2018,,,,,,1.000(P),,0.0001(T),.,-1.993465,.,.,-2.362000,-2.321000,0.424000,0.125000,0.124000,0.960000,.
synonymous_variant,SLC35G4P,SILENT,NM_001282300.1:p.Arg103Arg/c.309C>G,cgC/cgG,LOW,,0.853834,0.879,rs8087561,,,,,,chr18,11609903,11609903,C,G,het,synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg103Arg/c.309C>G|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.8834,0.8703,0.8221,,,,,,,,,,,,,,,,,,,
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Thr104Ala/c.310A>G,Acc/Gcc,MODERATE,,0.889776,0.8968,rs8087447,0.33(T),,-0.695(N),-1.0004(T),,chr18,11609904,11609904,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr104Ala/c.310A>G|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.8998,0.8818,0.8221,,,,,,1.000(P),,0.0000(T),.,-1.681013,.,.,-1.973000,-1.986000,-3.105000,0.035000,0.035000,0.000000,.
synonymous_variant,SLC35G4P,SILENT,NM_001282300.1:p.Gly128Gly/c.384C>T,ggC/ggT,LOW,COSM148388(1),0.217252,0.1746,rs79858187,,,,,,chr18,11609978,11609978,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly128Gly/c.384C>T|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1217,0.147,0.2018,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC35G4P,SILENT,NM_001282300.1:p.Asn129Asn/c.387T>C,aaT/aaC,LOW,COSM148389(1),0.217053,0.1756,rs76641843,,,,,,chr18,11609981,11609981,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn129Asn/c.387T>C|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1217,0.147,0.2018,,,,,,,,,,,,,,,,,,,
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Arg134Cys/c.400C>T,Cgc/Tgc,MODERATE,,0.217053,0.1756,rs75154847,0.18(T),,0.695(N),-0.9727(T),,chr18,11609994,11609994,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg134Cys/c.400C>T|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1217,0.147,0.2018,,,,,,0.467(P),,0.0724(T),.,1.423859,.,.,0.000000,-0.000000,0.473000,0.000000,0.000000,0.998000,.
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.His136Arg/c.407A>G,cAt/cGt,MODERATE,COSM148390(1),0.217053,0.1756,rs79348909,0.35(T),,0(N),-0.9948(T),,chr18,11610001,11610001,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His136Arg/c.407A>G|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1217,0.147,0.2018,,,,,,1.000(P),,0.0485(T),.,-0.057458,.,.,0.000000,-0.000000,-0.051000,0.000000,0.000000,0.992000,.
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Ile144Val/c.430A>G,Atc/Gtc,MODERATE,COSM148391(2),0.217252,0.1756,rs80224205,0.57(T),,0.46(N),-0.9708(T),,chr18,11610024,11610024,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile144Val/c.430A>G|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1227,0.147,0.2018,,,,,,1.000(P),,0.0554(T),.,-1.868419,.,.,0.000000,-0.000000,0.136000,0.000000,0.000000,0.649000,.
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Glu150Lys/c.448G>A,Gag/Aag,MODERATE,COSM148392(1),0.217252,0.1756,rs76699910,0.14(T),,0.805(L),-0.9274(T),,chr18,11610042,11610042,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu150Lys/c.448G>A|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1217,0.147,0.2018,,,,,,0.734(P),,0.0000(T),.,0.353356,.,.,0.000000,0.000000,0.362000,0.000000,0.000000,0.011000,.
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Gly176Glu/c.527G>A,gGa/gAa,MODERATE,COSM148393(1),0.217252,0.1756,rs73943948,1(T),,0.695(N),-0.9851(T),,chr18,11610121,11610121,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly176Glu/c.527G>A|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1217,0.147,0.2018,,,,,,0.494(P),,0.0000(T),.,1.232448,.,.,0.064000,0.064000,0.210000,0.018000,0.018000,0.225000,.
synonymous_variant,SLC35G4P,SILENT,NM_001282300.1:p.Thr185Thr/c.555G>A,acG/acA,LOW,COSM148394(1),,,rs74706935,,,,,,chr18,11610149,11610149,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr185Thr/c.555G>A|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Gly190Ser/c.568G>A,Ggc/Agc,MODERATE,,0.24361,0.1885,rs73943949,0.66(T),,0(N),-0.9223(T),,chr18,11610162,11610162,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly190Ser/c.568G>A|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,K562:H3K27me3",,,,0.136,0.1542,0.1968,,,,,,0.729(P),,0.0000(T),.,0.475948,.,.,0.064000,0.064000,0.883000,0.110000,0.109000,0.979000,.
missense_variant,SLC35G4P,MISSENSE,NM_001282300.1:p.Gly190Val/c.569G>T,gGc/gTc,MODERATE,,0.199281,0.1567,rs62084100,0.74(T),,0(N),-1.0032(T),,chr18,11610163,11610163,G,T,het,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly190Val/c.569G>T|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),"H1ESC:H3K36me3,K562:H3K27me3",,,,0.1094,0.1326,0.1869,,,,,,,,0.0227(T),.,-0.015171,.,.,-2.366000,-2.418000,0.155000,0.106000,0.105000,0.977000,.
synonymous_variant,SLC35G4P,SILENT,NM_001282300.1:p.Leu208Leu/c.624C>G,ctC/ctG,LOW,,,,rs112431640,,,,,,chr18,11610218,11610218,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu208Leu/c.624C>G|338|SLC35G4P|protein_coding|CODING|NM_001282300.1|1|1),K562:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,GNAL,MISSENSE,NM_182978.3:p.Arg46Lys/c.137G>A,aGg/aAg,MODERATE,COSM3749432(2),0.0858626,0.0288,rs7236433,0.23(T),0.0(B),,-1.0373(T),,chr18,11689699,11689699,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg46Lys/c.137G>A|458|GNAL|protein_coding|CODING|NM_182978.3|1|1),"HeLa-S3:DNase1,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,K562:E2F6,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.0849,0.0951,0.1451,,,,,0.460515(U),1.000(P),-2.26(D),0.0054(T),0.027,0.550668,1.68,-3.36,-1.468000,-1.203000,-0.079000,0.003000,0.000000,0.069000,5.1989
synonymous_variant,GNAL,SILENT,NM_182978.3:p.Ala415Ala/c.1245C>T,gcC/gcT,LOW,,0.00339457,0,rs41289504,,,,,,chr18,11881002,11881002,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala338Ala/c.1014C>T|381|GNAL|protein_coding|CODING|NM_001142339.2|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala338Ala/c.1014C>T|381|GNAL|protein_coding|CODING|NM_001261443.1|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala131Ala/c.393C>T|174|GNAL|protein_coding|CODING|NM_001261444.1|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala415Ala/c.1245C>T|458|GNAL|protein_coding|CODING|NM_182978.3|12|1)","H1ESC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,0.0031,0.0086,0.008,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD62,SILENT,NM_001277333.1:p.Gly5Gly/c.15G>T,ggG/ggT,LOW,COSM3821165(1),0.29393,0.5347,rs11664969,,,,,,chr18,12094031,12094031,G,T,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly5Gly/c.15G>T|917|ANKRD62|protein_coding|CODING|NM_001277333.1|1|1),H1ESC:H3K27me3,,,,0.2965,0.3285,0.2445,,,,,,,,,,,,,,,,,,,
missense_variant,ANKRD62,MISSENSE,NM_001277333.1:p.Ala188Ser/c.562G>T,Gca/Tca,MODERATE,COSM437906(2),0.524561,0.2391,rs1986751,0(D),,,-0.9275(T),,chr18,12096249,12096249,G,T,het,missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala188Ser/c.562G>T|917|ANKRD62|protein_coding|CODING|NM_001277333.1|4|1),HUVEC:H3K27me3,,,,0.5695,0.5677,0.669,,,,,0.723579(U),1.000(P),-0.05(T),0.0000(T),0.12,0.291063,1.61,-0.402,-1.786000,-0.569000,0.687000,0.187000,0.001000,0.358000,6.5344
missense_variant,ANKRD62,MISSENSE,NM_001277333.1:p.Cys265Arg/c.793T>C,Tgt/Cgt,MODERATE,COSM4000371(1),0.524361,0.2391,rs6505715,0.34(T),,,-0.9715(T),,chr18,12099654,12099654,T,C,het,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys265Arg/c.793T>C|917|ANKRD62|protein_coding|CODING|NM_001277333.1|6|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.5695,0.5677,0.669,,,,,,1.000(P),1.39(T),0.0000(T),0.042,-1.778369,1.61,-0.305,-1.741000,-0.537000,-0.700000,0.008000,0.000000,0.000000,5.1596
missense_variant,ANKRD62,MISSENSE,NM_001277333.1:p.Glu406Lys/c.1216G>A,Gaa/Aaa,MODERATE,COSM437907(1),0.527356,0.252,rs4519391,0.17(T),0.855(P),1.865(L),-0.9717(T),,chr18,12115509,12115509,G,A,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu406Lys/c.1216G>A|917|ANKRD62|protein_coding|CODING|NM_001277333.1|10|1),"HUVEC:H3K27me3,NH-A:H3K27me3",,,,0.5695,0.5692,0.669,,,,,,0.999(P),"1.56,1.56(T,T)",0.0000(T),0.55,1.979289,1.51,1.51,0.313000,1.130000,4.660000,0.025000,0.180000,1.000000,6.4356
missense_variant,ANKRD62,MISSENSE,NM_001277333.1:p.Gln491Glu/c.1471C>G,Caa/Gaa,MODERATE,,0.235423,0.0675,rs11873244,1(T),0.0(B),-1.62(N),-0.9493(T),,chr18,12124152,12124152,C,G,het,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln491Glu/c.1471C>G|917|ANKRD62|protein_coding|CODING|NM_001277333.1|12|1),"HUVEC:H3K27me3,GM12878:H3K36me3",,,,0.2618,0.1974,0.4076,,,,,,0.043(P),"2.7,2.7(T,T)",0.0000(T),0.072,-3.097653,1.67,-1.55,-2.396000,-0.511000,2.219000,0.004000,0.003000,1.000000,5.2513
missense_variant,ANKRD62,MISSENSE,NM_001277333.1:p.Ala613Thr/c.1837G>A,Gca/Aca,MODERATE,COSM437908(1),0.546526,0.249,rs7243248,1(T),0.0(B),-1.415(N),-0.9710(T),,chr18,12125657,12125657,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala613Thr/c.1837G>A|917|ANKRD62|protein_coding|CODING|NM_001277333.1|13|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.5695,0.5692,0.669,,,,,,0.000(P),"2.62,2.62(T,T)",0.0000(T),0.094,-2.503434,1.61,1.61,-1.301000,0.097000,0.658000,0.102000,0.098000,0.998000,5.0534
splice_donor_variant,CIDEA,,NR_036468.1:n.597G>A,,HIGH,,0.15595,0.2183,rs34939372,,,,,,chr18,12254956,12254956,G,A,het,"splice_donor_variant(HIGH|||n.597G>A||CIDEA||CODING|NR_036468.1|1|1),intron_variant(MODIFIER|||c.38+536G>A|219|CIDEA|protein_coding|CODING|NM_001279.3|1|1),intron_variant(MODIFIER|||n.596+1G>A||CIDEA||CODING|NR_036468.1|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,K562:H3K27me3,NHEK:H3K27me3,HMEC:H3K4me1,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.2382,0.1484,0.2068,0.13,0.03,0.17,,,,,,,,,,,,,,,,
missense_variant,CIDEA,MISSENSE,NM_001279.3:p.Val115Phe/c.343G>T,Gtc/Ttc,MODERATE,,0.364217,0.5278,rs11545881,0.7(T),"0.088,0.081(B,B)",1.1(L),-1.0064(T),,chr18,12274104,12274104,G,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val115Phe/c.343G>T|219|CIDEA|protein_coding|CODING|NM_001279.3|4|1),non_coding_exon_variant(MODIFIER|||n.901G>T||CIDEA||CODING|NR_036468.1|4|1)","GM06990:H3K27me3,HepG2:H3K27me3",,,,0.4233,0.402,0.3678,0.31,0.20,0.36,,0.000951(N),1.000(P),0.93(T),0.0000(T),0.111,1.411750,5.03,-7.46,-1.731000,-1.696000,-0.415000,0.000000,0.000000,0.000000,9.7264
synonymous_variant,AFG3L2,SILENT,NM_006796.2:p.Glu550Glu/c.1650A>G,gaA/gaG,LOW,COSM148398(2),0.709864,0.6151,rs11553521,,,,,,chr18,12348285,12348285,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu550Glu/c.1650A>G|797|AFG3L2|protein_coding|CODING|NM_006796.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116249.2|RCV000123557.1,,0.7873,0.5937,0.7674,0.78,0.77,0.78,,,,,,,,,,,,,,,,
synonymous_variant,AFG3L2,SILENT,NM_006796.2:p.Leu463Leu/c.1389G>A,ctG/ctA,LOW,COSM148399(3),0.623203,0.6071,rs11080572,,,,,,chr18,12351342,12351342,C,T,hom,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu463Leu/c.1389G>A|797|AFG3L2|protein_coding|CODING|NM_006796.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116248.2|RCV000123556.1,,0.7822,0.5735,0.7614,0.69,0.50,0.78,,,,,,,,,,,,,,,,
missense_variant,SEH1L,MISSENSE,NM_001013437.1:p.Thr342Asn/c.1025C>A,aCt/aAt,MODERATE,,0.782149,0.8105,rs6505776,0.69(T),"0.0,0.0(B,B)",-1.1(N),-0.9918(T),,chr18,12984144,12984144,C,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr342Asn/c.1025C>A|421|SEH1L|protein_coding|CODING|NM_001013437.1|8|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr342Asn/c.1025C>A|360|SEH1L|protein_coding|CODING|NM_031216.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7515,0.6441,0.6203,0.72,0.92,0.62,,0.006907(N),1.000(P),"-0.29,-0.35(T,T)",0.0000(T),0.021,-0.070133,6.04,1.0,-0.362000,-0.279000,1.686000,0.983000,0.929000,1.000000,7.0792
missense_variant,CEP192,MISSENSE,NM_032142.3:p.Gly74Ala/c.221G>C,gGg/gCg,MODERATE,COSM148402(2),0.430711,0.3552,rs4499304,1(T),0.001(B),-0.345(N),-0.9564(T),,chr18,13001512,13001512,G,C,het,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly74Ala/c.221G>C|2537|CEP192|protein_coding|CODING|NM_032142.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3231,0.4798,0.4493,,,,,,1.000(P),3.51(T),0.0000(T),0.021,-2.151523,4.76,-0.604,0.205000,-0.105000,0.032000,0.258000,0.005000,0.005000,5.6865
missense_variant,CEP192,MISSENSE,NM_032142.3:p.Gly78Arg/c.232G>A,Gga/Aga,MODERATE,COSM3756072(1),0.274161,0.1835,rs11080618,0.37(T),0.012(B),0.345(N),-0.9096(T),,chr18,13001523,13001523,G,A,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly78Arg/c.232G>A|2537|CEP192|protein_coding|CODING|NM_032142.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.229,0.3991,0.3688,,,,,,0.997(P),3.36(T),0.0000(T),0.042,0.952510,4.76,-3.79,0.205000,-0.447000,0.303000,0.231000,0.561000,0.200000,5.9309
synonymous_variant,CEP192,SILENT,NM_032142.3:p.His1248His/c.3744C>T,caC/caT,LOW,COSM3756074(1),0.246206,0.1835,rs2282541,,,,,,chr18,13056333,13056333,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1248His/c.3744C>T|2537|CEP192|protein_coding|CODING|NM_032142.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1779,0.3905,0.34,0.29,0.22,0.33,,,,,,,,,,,,,,,,
missense_variant,CEP192,MISSENSE,NM_032142.3:p.Ser1552Pro/c.4654T>C,Tcc/Ccc,MODERATE,,0.747204,0.8105,rs578208,1(T),"0.0,0.0(B,B)",-2.215(N),-0.9618(T),,chr18,13068132,13068132,T,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser1552Pro/c.4654T>C|2537|CEP192|protein_coding|CODING|NM_032142.3|23|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7301,0.6354,0.6203,0.68,0.81,0.62,,0.000000(N),0.993(P),"1.86,1.86,1.86(T,T,T)",0.0000(T),0.098,0.531696,5.37,5.37,-0.119000,1.415000,4.296000,0.247000,0.796000,1.000000,14.6427
missense_variant,CEP192,MISSENSE,NM_032142.3:p.Leu1701Phe/c.5101C>T,Ctc/Ttc,MODERATE,,0.770168,0.8105,rs6505780,1(T),"0.0,0.0,0.0(B,B,B)",-1.745(N),-0.9552(T),,chr18,13069782,13069782,C,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu1701Phe/c.5101C>T|2537|CEP192|protein_coding|CODING|NM_032142.3|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7311,0.6455,0.6193,0.71,0.88,0.62,,0.000004(N),1.000(P),"0.96,0.96,0.96(T,T,T)",0.0000(T),0.057,-0.381800,5.47,5.47,-0.361000,0.927000,2.323000,0.743000,0.621000,0.968000,10.4557
missense_variant,CEP192,MISSENSE,NM_032142.3:p.Leu2121Pro/c.6362T>C,cTg/cCg,MODERATE,,0.769968,0.8105,rs474337,0.29(T),"0.0,0.003,0.0,0.0(B,B,B,B)",-0.345(N),-1.0322(T),,chr18,13095609,13095609,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu2121Pro/c.6362T>C|2537|CEP192|protein_coding|CODING|NM_032142.3|35|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7301,0.6455,0.6193,0.71,0.88,0.62,,0.013343(N),0.983(P),"1.59,1.59,1.59(T,T,T)",0.0000(T),0.07,1.512281,5.91,3.43,-1.068000,0.506000,1.599000,0.002000,0.039000,0.013000,8.7751
missense_variant,CEP192,MISSENSE,NM_032142.3:p.Arg2449Leu/c.7346G>T,cGg/cTg,MODERATE,,0.775559,0.8075,rs1786263,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.045(N),-0.9999(T),,chr18,13116432,13116432,G,T,het,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg2449Leu/c.7346G>T|2537|CEP192|protein_coding|CODING|NM_032142.3|43|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7301,0.6441,0.6113,0.72,0.92,0.62,,0.000042(N),1.000(P),"3.54,3.54,3.54(T,T,T)",0.0000(T),0.142,-0.276722,4.76,4.76,-0.520000,0.785000,0.755000,0.285000,1.000000,1.000000,4.8966
missense_variant,ZNF519,MISSENSE,NM_145287.3:p.Arg508Ile/c.1523G>T,aGa/aTa,MODERATE,,0.292133,0.6597,rs61609068,0.24(T),0.299(B),2.365(M),-0.9284(T),,chr18,14105016,14105016,C,A,het,"missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg508Ile/c.1523G>T|540|ZNF519|protein_coding|CODING|NM_145287.3|3|1),intron_variant(MODIFIER|||n.217-19941G>T||ZNF519||CODING|NR_033354.1|1|1)","H1ESC:H3K36me3,CD4:H3K36me3",,,,0.2771,0.2622,0.1958,0.19,0.13,0.22,,,0.000(P),,0.0000(T),0.12,0.331605,0.646,0.646,0.089000,0.661000,0.368000,0.513000,0.791000,0.000000,7.2226
missense_variant,ZNF519,MISSENSE,NM_145287.3:p.Arg229Ile/c.686G>T,aGa/aTa,MODERATE,COSM3756081(1),0.165136,0.4454,rs8094412,0.27(T),0.212(B),1.225(L),-0.9140(T),,chr18,14105853,14105853,C,A,het,"missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg229Ile/c.686G>T|540|ZNF519|protein_coding|CODING|NM_145287.3|3|1),intron_variant(MODIFIER|||n.217-20778G>T||ZNF519||CODING|NR_033354.1|1|1)","H1ESC:H3K36me3,CD4:H3K36me3",,,,0.0787,0.2248,0.1302,0.11,0.03,0.15,,,0.000(P),,0.0000(T),0.133,0.437165,0.646,-0.517,0.089000,-0.192000,0.122000,0.342000,0.002000,0.000000,4.7853
missense_variant,ZNF519,MISSENSE,NM_145287.3:p.Lys206Glu/c.616A>G,Aaa/Gaa,MODERATE,,0.980232,1,rs2159940,1(T),0.012(B),-1.415(N),-0.9845(T),,chr18,14105923,14105923,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys206Glu/c.616A>G|540|ZNF519|protein_coding|CODING|NM_145287.3|3|1),intron_variant(MODIFIER|||n.217-20848A>G||ZNF519||CODING|NR_033354.1|1|1)","H1ESC:H3K36me3,CD4:H3K36me3",,,,1,0.9928,1,0.98,0.94,1.00,,,1.000(P),,0.0000(T),0.027,-2.317293,0.646,-0.517,-1.896000,-1.530000,0.310000,0.175000,0.002000,0.000000,5.2398
synonymous_variant,ZNF519,SILENT,NM_145287.3:p.Leu40Leu/c.120C>G,ctC/ctG,LOW,,,,,,,,,,chr18,14124359,14124359,G,C,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu40Leu/c.120C>G|540|ZNF519|protein_coding|CODING|NM_145287.3|2|1),intron_variant(MODIFIER|||n.216+7915C>G||ZNF519||CODING|NR_033354.1|1|1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,POTEC,SILENT,NM_001137671.1:p.Thr93Thr/c.279G>A,acG/acA,LOW,COSM4130924(1),,,rs200779556,,,,,,chr18,14542867,14542867,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr93Thr/c.279G>A|542|POTEC|protein_coding|CODING|NM_001137671.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,POTEC,MISSENSE,NM_001137671.1:p.His86Asp/c.256C>G,Cat/Gat,MODERATE,COSM1522593(1),0.261581,0.1131,rs45469098,0.04(D),0.039(B),1.04(L),-0.9171(T),,chr18,14542890,14542890,G,C,het,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His86Asp/c.256C>G|542|POTEC|protein_coding|CODING|NM_001137671.1|1|1),H1ESC:H3K9me3,,,,0.2577,0.3401,0.4314,,,,,,1.000(P),1.5(T),0.0000(T),0.251,-0.177422,.,.,0.175000,0.172000,-0.485000,0.015000,0.011000,0.000000,.
synonymous_variant,POTEC,SILENT,NM_001137671.1:p.Asn79Asn/c.237C>T,aaC/aaT,LOW,,,,rs370268513,,,,,,chr18,14542909,14542909,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn79Asn/c.237C>T|542|POTEC|protein_coding|CODING|NM_001137671.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,POTEC,MISSENSE,NM_001137671.1:p.Met56Thr/c.167T>C,aTg/aCg,MODERATE,COSM4130925(1),,,rs200806970,0.5(T),0.0(B),-1.1(N),-0.9445(T),,chr18,14542979,14542979,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met56Thr/c.167T>C|542|POTEC|protein_coding|CODING|NM_001137671.1|1|1),H1ESC:H3K9me3,,,,,,,,,,,,1.000(P),1.9(T),0.0000(T),0.217,-3.765553,0.448,-0.896,-1.448000,-1.644000,-1.655000,0.003000,0.000000,0.000000,.
missense_variant,POTEC,MISSENSE,NM_001137671.1:p.Thr3Ala/c.7A>G,Act/Gct,MODERATE,COSM1522590(2),0.878195,0.7718,rs28535987,1(T),0.0(B),-1.355(N),-0.9929(T),,chr18,14543139,14543139,T,C,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr3Ala/c.7A>G|542|POTEC|protein_coding|CODING|NM_001137671.1|1|1),,,,,0.864,0.8213,0.9503,,,,,,1.000(P),2.04(T),0.0000(T),0.057,-2.407919,0.762,-0.721,-1.042000,-1.258000,-1.080000,0.013000,0.001000,0.001000,2.3855
synonymous_variant,ANKRD30B,SILENT,NM_001145029.1:p.Leu152Leu/c.456G>A,ttG/ttA,LOW,COSM3756088(1),0.519968,0.5883,rs12457503,,,,,,chr18,14752957,14752957,G,A,hom,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu152Leu/c.456G>A|1392|ANKRD30B|protein_coding|CODING|NM_001145029.1|3|1),,,,,0.4724,0.6124,0.4513,0.48,0.49,0.48,,,,,,,,,,,,,,,,
missense_variant,ANKRD30B,MISSENSE,NM_001145029.1:p.Arg483Gln/c.1448G>A,cGa/cAa,MODERATE,COSM1303594(5),,,rs76927023,0.4(T),0.003(B),-1.1(N),-1.0053(T),,chr18,14779986,14779986,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg483Gln/c.1448G>A|1392|ANKRD30B|protein_coding|CODING|NM_001145029.1|11|1),,,,,,,,,,,,,1.000(N),"1.51,1.25(T,T)",0.0243(T),0.087,-2.092170,1.69,0.451,-1.326000,0.127000,1.139000,0.094000,0.002000,0.999000,3.9288
missense_variant,ANKRD30B,MISSENSE,NM_001145029.1:p.Gly494Val/c.1481G>T,gGg/gTg,MODERATE,COSM1387909(3),,,rs72873710,0.15(T),0.192(B),0.345(N),-1.0451(T),,chr18,14780019,14780019,G,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly494Val/c.1481G>T|1392|ANKRD30B|protein_coding|CODING|NM_001145029.1|11|1),splice_region_variant(LOW|||c.1481G>T|1392|ANKRD30B|protein_coding|CODING|NM_001145029.1|11|1)",,,,,,,,,,,,,0.998(N),"1.43,1.48(T,T)",0.0293(T),0.172,-0.092527,1.69,0.336,-0.734000,0.156000,0.507000,0.044000,0.341000,1.000000,3.5662
missense_variant,ANKRD30B,MISSENSE,NM_001145029.1:p.Thr977Met/c.2930C>T,aCg/aTg,MODERATE,COSM1136029(5),0.400759,0.5685,rs4090319,1(T),"0.0,0.001(B,B)",-1.04(N),-0.9259(T),,chr18,14848820,14848820,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr977Met/c.2930C>T|1392|ANKRD30B|protein_coding|CODING|NM_001145029.1|34|1),,,,,0.5706,0.5173,0.4801,,,,,,0.000(P),2.38(T),0.0000(T),0.096,-3.829587,1.48,0.0525,-1.169000,0.068000,2.178000,0.012000,0.027000,0.992000,4.8651
missense_variant,ANKRD30B,MISSENSE,NM_001145029.1:p.Asn1345Lys/c.4035C>A,aaC/aaA,MODERATE,,0.968251,1,rs12386087,0.2(T),"0.0,0.0(B,B)",-0.205(N),-1.0710(T),,chr18,14852335,14852335,C,A,hom,missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn1345Lys/c.4035C>A|1392|ANKRD30B|protein_coding|CODING|NM_001145029.1|36|1),,,,,1,0.9827,0.999,,,,,,1.000(P),2.69(T),0.0000(T),0.017,-1.630800,1.39,-1.21,-1.536000,-0.933000,0.701000,0.055000,0.001000,0.974000,3.3613
synonymous_variant,GREB1L,SILENT,NM_001142966.1:p.Glu1185Glu/c.3555A>G,gaA/gaG,LOW,COSM4130927(1),0.98143,1,rs4800747,,,,,,chr18,19079853,19079853,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1185Glu/c.3555A>G|1923|GREB1L|protein_coding|CODING|NM_001142966.1|22|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,1,0.9928,1,0.99,0.96,1.00,,,,,,,,,,,,,,,,
synonymous_variant,GREB1L,SILENT,NM_001142966.1:p.Ser1847Ser/c.5541T>C,agT/agC,LOW,COSM3756092(2),0.0816693,0.002,rs17720074,,,,,,chr18,19100717,19100717,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1847Ser/c.5541T>C|1923|GREB1L|protein_coding|CODING|NM_001142966.1|32|1),"HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0908,0.2008,0.17,0.04,0.23,,,,,,,,,,,,,,,,
synonymous_variant,ESCO1,SILENT,NM_052911.2:p.Thr437Thr/c.1311G>A,acG/acA,LOW,,0.867812,0.9762,rs386624575,,,,,,chr18,19153494,19153494,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr437Thr/c.1311G>A|840|ESCO1|protein_coding|CODING|NM_052911.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8272,0.8977,0.7952,0.83,0.86,0.81,,,,,,,,,,,,,,,,
synonymous_variant,GATA6,SILENT,NM_005257.5:p.Asn458Asn/c.1374C>T,aaC/aaT,LOW,,0.000998403,0.001,rs143026087,,,,,,chr18,19761485,19761485,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn458Asn/c.1374C>T|595|GATA6|protein_coding|CODING|NM_005257.5|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.002,0.0014,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,CTAGE1,SILENT,NM_172241.2:p.Pro674Pro/c.2022A>G,ccA/ccG,LOW,,0.685503,0.7907,rs9946145,,,,,,chr18,19995753,19995753,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro674Pro/c.2022A>G|745|CTAGE1|protein_coding|CODING|NM_172241.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.7761,0.8617,0.9274,0.73,0.39,0.91,,,,,,,,,,,,,,,,
synonymous_variant,CTAGE1,SILENT,NM_172241.2:p.Leu588Leu/c.1764C>T,ctC/ctT,LOW,,0.494209,0.5655,rs7227477,,,,,,chr18,19996011,19996011,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu588Leu/c.1764C>T|745|CTAGE1|protein_coding|CODING|NM_172241.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.3906,0.5576,0.5159,0.46,0.45,0.46,,,,,,,,,,,,,,,,
synonymous_variant,RBBP8,SILENT,NM_002894.2:p.Lys705Lys/c.2115G>A,aaG/aaA,LOW,COSM3756094(1),0.16873,0.003,rs17852769,,,,,,chr18,20577669,20577669,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys705Lys/c.2115G>A|897|RBBP8|protein_coding|CODING|NM_002894.2|14|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys705Lys/c.2115G>A|897|RBBP8|protein_coding|CODING|NM_203291.1|14|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys705Lys/c.2115G>A|867|RBBP8|protein_coding|CODING|NM_203292.1|14|1)","K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118135.2,,0.1564,0.0778,0.1382,0.19,0.34,0.12,,,,,,,,,,,,,,,,
missense_variant,TMEM241,MISSENSE,NM_032933.4:p.Leu131Phe/c.391C>T,Ctc/Ttc,MODERATE,COSM3756096(2),0.410543,0.4147,rs8099409,0.3(T),0.001(B),-1.1(N),-0.9234(T),,chr18,20953720,20953720,G,A,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu131Phe/c.391C>T|296|TMEM241|protein_coding|CODING|NM_032933.4|7|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3067,0.3184,0.4881,0.49,0.48,0.49,,0.003958(N),0.000(P),"1.05,1.05,-1.02(T,T,T)",0.0000(T),0.274,1.468430,5.99,3.62,-0.982000,0.171000,2.411000,0.754000,1.000000,1.000000,7.6304
synonymous_variant,C18orf8,SILENT,NM_013326.4:p.Pro308Pro/c.924C>T,ccC/ccT,LOW,,0.619409,0.8849,rs1367083,,,,,,chr18,21100240,21100240,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro260Pro/c.780C>T|561|C18orf8|protein_coding|CODING|NM_001276342.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro308Pro/c.924C>T|657|C18orf8|protein_coding|CODING|NM_013326.4|10|1),non_coding_exon_variant(MODIFIER|||n.844C>T||C18orf8||CODING|NR_075075.1|7|1),non_coding_exon_variant(MODIFIER|||n.988C>T||C18orf8||CODING|NR_075076.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.5634,0.6513,0.4742,0.50,0.54,0.48,,,,,,,,,,,,,,,,
synonymous_variant,C18orf8,SILENT,NM_013326.4:p.Phe468Phe/c.1404T>C,ttT/ttC,LOW,,0.830471,0.9236,rs1788825,,,,,,chr18,21109250,21109250,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe420Phe/c.1260T>C|561|C18orf8|protein_coding|CODING|NM_001276342.1|13|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe468Phe/c.1404T>C|657|C18orf8|protein_coding|CODING|NM_013326.4|15|1),non_coding_exon_variant(MODIFIER|||n.1324T>C||C18orf8||CODING|NR_075075.1|12|1),non_coding_exon_variant(MODIFIER|||n.1468T>C||C18orf8||CODING|NR_075076.1|14|1)","H1ESC:H3K36me3,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ELF1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7791,0.7781,0.6531,0.74,0.91,0.65,,,,,,,,,,,,,,,,
missense_variant,NPC1,MISSENSE,NM_000271.4:p.Ile858Val/c.2572A>G,Att/Gtt,MODERATE,,0.485823,0.6111,rs1805082,0.52(T),"0.034,0.021(B,B)",1.01(L),-0.9521(T),,chr18,21120444,21120444,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile858Val/c.2572A>G|1278|NPC1|protein_coding|CODING|NM_000271.4|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,RCV000020227.2|RCV000078474.3,,0.4601,0.611,0.4583,0.44,0.39,0.47,,0.000000(D),0.000(P),"-3.33,-3.33(D,D)",0.0000(T),0.269,3.321358,6.07,6.07,0.533000,2.326000,4.947000,0.934000,0.985000,1.000000,16.6288
missense_variant,NPC1,MISSENSE,NM_000271.4:p.Met642Ile/c.1926G>C,atG/atC,MODERATE,,0.831669,0.9226,rs1788799,1(T),"0.0,0.0(B,B)",-1.56(N),-0.9365(T),,chr18,21124945,21124945,C,G,het,missense_variant(MODERATE|MISSENSE|atG/atC|p.Met642Ile/c.1926G>C|1278|NPC1|protein_coding|CODING|NM_000271.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,"RCV000020225.2,RCV000078467.3",,0.7853,0.7795,0.6521,0.73,0.91,0.65,,0.000000(N),1.000(P),"-3.02,-2.93(D,D)",0.0000(T),0.125,0.470967,5.91,5.91,-0.120000,1.514000,3.301000,0.965000,1.000000,1.000000,7.8687
missense_variant,NPC1,MISSENSE,NM_000271.4:p.His215Arg/c.644A>G,cAt/cGt,MODERATE,,0.21865,0.256,rs1805081,0.48(T),0.0(B),0.665(N),-1.0386(T),,chr18,21140432,21140432,T,C,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His215Arg/c.644A>G|1278|NPC1|protein_coding|CODING|NM_000271.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Obesity,RCV000078484.3,,0.2474,0.2637,0.3837,0.30,0.09,0.40,,0.483913(N),1.000(P),-2.61(D),0.0000(T),0.018,1.163509,5.73,-1.13,0.533000,-0.172000,0.589000,0.858000,0.000000,0.005000,0.3945
synonymous_variant,LAMA3,SILENT,NM_198129.1:p.Ala967Ala/c.2901T>C,gcT/gcC,LOW,COSM4130939(1),0.624401,0.7431,rs9962023,,,,,,chr18,21413869,21413869,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala967Ala/c.2901T>C|3277|LAMA3|protein_coding|CODING|NM_001127717.1|24|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala967Ala/c.2901T>C|3333|LAMA3|protein_coding|CODING|NM_198129.1|24|1)","HSMM:DNase1,HMEC:DNase1,NHEK:DNase1",,,,0.6186,0.5476,0.7078,0.65,0.55,0.70,,,,,,,,,,,,,,,,
synonymous_variant,LAMA3,SILENT,NM_198129.1:p.Gly1420Gly/c.4260G>C,ggG/ggC,LOW,,0.34365,0.1736,rs867449,,,,,,chr18,21437931,21437931,G,C,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1420Gly/c.4260G>C|3277|LAMA3|protein_coding|CODING|NM_001127717.1|33|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly1420Gly/c.4260G>C|3333|LAMA3|protein_coding|CODING|NM_198129.1|33|1)","HepG2:ELF1,GM06990:H3K27me3,H1ESC:H3K27me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HMEC:DNase1",,,,0.3834,0.415,0.6123,0.52,0.30,0.62,,,,,,,,,,,,,,,,
synonymous_variant,LAMA3,SILENT,NM_198129.1:p.Pro1510Pro/c.4530C>T,ccC/ccT,LOW,,0.340655,0.1746,rs12965685,,,,,,chr18,21441717,21441717,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1510Pro/c.4530C>T|3277|LAMA3|protein_coding|CODING|NM_001127717.1|35|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1510Pro/c.4530C>T|3333|LAMA3|protein_coding|CODING|NM_198129.1|35|1)","NHEK:H3K27ac,HSMM:H3K27ac,HMEC:H3K27ac,IMR90:H3K4me1,NH-A:H3K27ac,IMR90:H3K27ac,NHEK:H3K36me3,HMEC:H3K4me1",,,,0.3865,0.4121,0.6113,0.50,0.27,0.62,,,,,,,,,,,,,,,,
synonymous_variant,LAMA3,SILENT,NM_198129.1:p.Ala2049Ala/c.6147C>G,gcC/gcG,LOW,COSM1179775(1),0.168331,0.1885,rs1154226,,,,,,chr18,21481233,21481233,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala440Ala/c.1320C>G|1724|LAMA3|protein_coding|CODING|NM_000227.3|11|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala1993Ala/c.5979C>G|3277|LAMA3|protein_coding|CODING|NM_001127717.1|47|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala384Ala/c.1152C>G|1668|LAMA3|protein_coding|CODING|NM_001127718.1|10|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala2049Ala/c.6147C>G|3333|LAMA3|protein_coding|CODING|NM_198129.1|48|1)","HMEC:H3K36me3,HUVEC:DNase1,NH-A:DNase1,NHEK:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0.2423,0.1902,0.2624,0.20,0.06,0.27,,,,,,,,,,,,,,,,
missense_variant,LAMA3,MISSENSE,NM_198129.1:p.Asn2815Lys/c.8445C>A,aaC/aaA,MODERATE,,0.156749,0.1815,rs1154232,0.29(T),"0.006,0.005,0.004,0.004(B,B,B,B)",1.445(L),-1.0975(T),,chr18,21511034,21511034,C,A,het,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn1206Lys/c.3618C>A|1724|LAMA3|protein_coding|CODING|NM_000227.3|28|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn2759Lys/c.8277C>A|3277|LAMA3|protein_coding|CODING|NM_001127717.1|64|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn1150Lys/c.3450C>A|1668|LAMA3|protein_coding|CODING|NM_001127718.1|27|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn2815Lys/c.8445C>A|3333|LAMA3|protein_coding|CODING|NM_198129.1|65|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,0.229,0.1657,0.2097,0.15,0.06,0.20,,,0.000(P),"-1.1,-1.1,-1.1(T,T,T)",0.0002(T),0.101,-0.093580,5.46,2.56,0.655000,0.677000,-0.007000,0.415000,0.212000,0.038000,5.0531
missense_variant,LAMA3,MISSENSE,NM_198129.1:p.Ser2834Gly/c.8500A>G,Agc/Ggc,MODERATE,,1,1,rs1154233,0.49(T),"0.0,0.001,0.0,0.0(B,B,B,B)",2.075(M),-0.9653(T),,chr18,21511089,21511089,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1225Gly/c.3673A>G|1724|LAMA3|protein_coding|CODING|NM_000227.3|28|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser2778Gly/c.8332A>G|3277|LAMA3|protein_coding|CODING|NM_001127717.1|64|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser1169Gly/c.3505A>G|1668|LAMA3|protein_coding|CODING|NM_001127718.1|27|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser2834Gly/c.8500A>G|3333|LAMA3|protein_coding|CODING|NM_198129.1|65|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,1,1,1,,,,,,1.000(P),"2.28,2.28,2.28(T,T,T)",0.0000(T),0.043,-0.315557,5.57,-8.76,-0.757000,-1.199000,-1.256000,0.045000,0.000000,0.000000,7.883
synonymous_variant,LAMA3,SILENT,NM_198129.1:p.Leu2911Leu/c.8731C>T,Cta/Tta,LOW,COSM3756099(1),0.148363,0.1815,rs1131521,,,,,,chr18,21513768,21513768,C,T,het,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu1302Leu/c.3904C>T|1724|LAMA3|protein_coding|CODING|NM_000227.3|30|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu2855Leu/c.8563C>T|3277|LAMA3|protein_coding|CODING|NM_001127717.1|66|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu1246Leu/c.3736C>T|1668|LAMA3|protein_coding|CODING|NM_001127718.1|29|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu2911Leu/c.8731C>T|3333|LAMA3|protein_coding|CODING|NM_198129.1|67|1)","CD4:H2BK20ac,HMEC:H3K36me3,NH-A:DNase1,NHEK:H3K36me3,NHEK:DNase1",,,,0.2301,0.1628,0.2058,0.15,0.04,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TTC39C,SILENT,NM_001135993.1:p.Asn521Asn/c.1563C>T,aaC/aaT,LOW,,0.991613,1,rs12970083,,,,,,chr18,21710321,21710321,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn521Asn/c.1563C>T|583|TTC39C|protein_coding|CODING|NM_001135993.1|12|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn214Asn/c.642C>T|276|TTC39C|protein_coding|CODING|NM_001292030.1|7|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn460Asn/c.1380C>T|522|TTC39C|protein_coding|CODING|NM_153211.3|12|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9957,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,CABYR,MISSENSE,NM_012189.3:p.Ser490Ala/c.1468T>G,Tca/Gca,MODERATE,,0.853235,0.8571,rs1049683,,"0.0,0.0(B,B)",-0.895(N),-1.0279(T),,chr18,21736933,21736933,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser490Ala/c.1468T>G|493|CABYR|protein_coding|CODING|NM_012189.3|4|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser472Ala/c.1414T>G|475|CABYR|protein_coding|CODING|NM_153768.2|3|1),intron_variant(MODIFIER|||c.247+927T>G|281|CABYR|protein_coding|CODING|NM_138643.2|2|1),intron_variant(MODIFIER|||c.541+927T>G|379|CABYR|protein_coding|CODING|NM_138644.2|4|1),intron_variant(MODIFIER|||c.541+927T>G|379|CABYR|protein_coding|CODING|NM_153769.2|4|1),intron_variant(MODIFIER|||c.541+927T>G|221|CABYR|protein_coding|CODING|NM_153770.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8875,0.8285,0.8101,0.84,0.86,0.83,,0.487125(N),1.000(P),2.09(T),0.0000(T),0.156,0.849089,5.34,4.46,-0.121000,0.831000,1.333000,0.272000,0.838000,0.491000,6.5982
missense_variant,IMPACT,MISSENSE,NM_018439.3:p.Asp125Glu/c.375T>A,gaT/gaA,MODERATE,,0.0852636,0.0188,rs111172798,1(T),0.002(B),1.455(L),-0.9328(T),,chr18,22020467,22020467,T,A,het,missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp125Glu/c.375T>A|320|IMPACT|protein_coding|CODING|NM_018439.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1227,0.1556,0.1322,0.12,0.06,0.15,,0.039716(N),1.000(P),1.66(T),0.0001(T),0.053,0.628265,4.97,-9.94,-0.433000,-2.168000,-2.367000,0.497000,0.000000,0.000000,2.223
missense_variant,IMPACT,MISSENSE,NM_018439.3:p.Leu151Val/c.451C>G,Ctt/Gtt,MODERATE,,0.871206,0.6607,rs677688,0.38(T),0.0(B),-1.795(N),-1.0255(T),,chr18,22020543,22020543,C,G,hom,missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu151Val/c.451C>G|320|IMPACT|protein_coding|CODING|NM_018439.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8517,0.9755,0.9374,0.93,0.94,0.92,,0.453486(N),1.000(P),1.55(T),0.0000(T),0.151,-0.962303,5.29,2.38,-1.102000,0.203000,0.781000,0.004000,0.000000,0.001000,4.3808
synonymous_variant,TAF4B,SILENT,NM_001293725.1:p.Ser326Ser/c.978C>T,agC/agT,LOW,COSM3756101(2),0.119609,0.0546,rs12456749,,,,,,chr18,23865851,23865851,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser326Ser/c.978C>T|867|TAF4B|protein_coding|CODING|NM_001293725.1|7|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser326Ser/c.978C>T|862|TAF4B|protein_coding|CODING|NM_005640.2|7|1),non_coding_exon_variant(MODIFIER|||n.1029C>T||TAF4B||CODING|NR_121653.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1012,0.1354,0.2913,0.22,0.08,0.28,,,,,,,,,,,,,,,,
missense_variant,TAF4B,MISSENSE,NM_001293725.1:p.Asn544Ser/c.1631A>G,aAt/aGt,MODERATE,COSM3756104(2),0.121605,0.0546,rs12963653,0.82(T),"0.001,0.001(B,B)",0.55(N),-0.9635(T),,chr18,23872235,23872235,A,G,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn544Ser/c.1631A>G|867|TAF4B|protein_coding|CODING|NM_001293725.1|8|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn539Ser/c.1616A>G|862|TAF4B|protein_coding|CODING|NM_005640.2|8|1),non_coding_exon_variant(MODIFIER|||n.1667A>G||TAF4B||CODING|NR_121653.1|8|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3",,,,0.1012,0.1268,0.2913,0.23,0.09,0.29,,0.509084(N),1.000(P),"2.01,1.98(T,T)",0.0000(T),0.008,0.986046,5.21,-1.79,-0.339000,-0.301000,0.474000,0.860000,0.007000,0.017000,2.7368
synonymous_variant,TAF4B,SILENT,NM_001293725.1:p.Asn605Asn/c.1815T>C,aaT/aaC,LOW,,0.507987,0.7996,rs1677016,,,,,,chr18,23873463,23873463,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn605Asn/c.1815T>C|867|TAF4B|protein_coding|CODING|NM_001293725.1|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn600Asn/c.1800T>C|862|TAF4B|protein_coding|CODING|NM_005640.2|9|1),non_coding_exon_variant(MODIFIER|||n.1851T>C||TAF4B||CODING|NR_121653.1|9|1)","K562:H3K36me3,NHEK:H3K36me3",,,,0.6779,0.5461,0.5696,0.46,0.18,0.58,,,,,,,,,,,,,,,,
synonymous_variant,KCTD1,SILENT,NM_001142730.2:p.Ser839Ser/c.2517C>T,agC/agT,LOW,,0.0714856,0.004,rs3755,,,,,,chr18,24035788,24035788,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser231Ser/c.693C>T|257|KCTD1|protein_coding|CODING|NM_001136205.2|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser839Ser/c.2517C>T|865|KCTD1|protein_coding|CODING|NM_001142730.2|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser231Ser/c.693C>T|257|KCTD1|protein_coding|CODING|NM_001258221.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser239Ser/c.717C>T|265|KCTD1|protein_coding|CODING|NM_001258222.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser231Ser/c.693C>T|257|KCTD1|protein_coding|CODING|NM_198991.3|6|1)","NH-A:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0389,0.0893,0.1511,0.14,0.11,0.15,,,,,,,,,,,,,,,,
synonymous_variant,AQP4,SILENT,NM_001650.4:p.Pro67Pro/c.201G>T,ccG/ccT,LOW,,0.0441294,0.001,rs35248760,,,,,,chr18,24442392,24442392,C,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro67Pro/c.201G>T|323|AQP4|protein_coding|CODING|NM_001650.4|2|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro45Pro/c.135G>T|301|AQP4|protein_coding|CODING|NM_004028.3|1|1)","H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0184,0.1009,0.1223,0.09,0.03,0.12,,,,,,,,,,,,,,,,
synonymous_variant,CDH2,SILENT,NM_001792.3:p.Ala816Ala/c.2448C>T,gcC/gcT,LOW,COSM148413(3),0.327476,0.4216,rs1041985,,,,,,chr18,25543387,25543387,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala816Ala/c.2448C>T|906|CDH2|protein_coding|CODING|NM_001792.3|15|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,0.3589,0.464,0.3419,0.27,0.18,0.31,,,,,,,,,,,,,,,,
synonymous_variant,CDH2,SILENT,NM_001792.3:p.Arg697Arg/c.2091T>C,cgT/cgC,LOW,,0.990016,1,rs1220144,,,,,,chr18,25565082,25565082,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg697Arg/c.2091T>C|906|CDH2|protein_coding|CODING|NM_001792.3|13|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CDH2,SILENT,NM_001792.3:p.Pro477Pro/c.1431C>G,ccC/ccG,LOW,,0.99361,1,rs1628684,,,,,,chr18,25570228,25570228,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro477Pro/c.1431C>G|906|CDH2|protein_coding|CODING|NM_001792.3|10|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
splice_acceptor_variant,DSC3,protein_coding,NM_001941.4:c.155T>G,,HIGH,,1,1,rs276936,,,,,DSC3:1.00(2);,chr18,28611139,28611139,A,C,hom,"splice_acceptor_variant(HIGH|||c.155T>G|896|DSC3|protein_coding|CODING|NM_001941.4|3|1),splice_acceptor_variant(HIGH|||c.155T>G|839|DSC3|protein_coding|CODING|NM_024423.3|3|1),intron_variant(MODIFIER|||c.155-1T>G|896|DSC3|protein_coding|CODING|NM_001941.4|2|1),intron_variant(MODIFIER|||c.155-1T>G|839|DSC3|protein_coding|CODING|NM_024423.3|2|1)","HMEC:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,1,1,1,1.00,1.00,1.00,,,0.000(P),,,.,0.698218,5.21,4.33,-0.843000,0.777000,2.381000,0.001000,0.525000,1.000000,13.4971
missense_variant,DSG1,MISSENSE,NM_001942.2:p.Met11Val/c.31A>G,Atg/Gtg,MODERATE,,0.36262,0.0694,rs1426310,0.86(T),0.0(B),-1.39(N),-0.9191(T),,chr18,28898294,28898294,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met11Val/c.31A>G|1049|DSG1|protein_coding|CODING|NM_001942.2|1|1),HepG2:H3K27me3,,,,0.4796,0.2997,0.4911,0.48,0.47,0.49,,0.394257(N),0.124(P),0.59(T),0.0000(T),0.04,-0.231213,6.16,4.32,-0.128000,0.446000,1.404000,0.895000,0.081000,0.767000,6.0664
synonymous_variant,DSG1,SILENT,NM_001942.2:p.Gly244Gly/c.732C>T,ggC/ggT,LOW,COSM4130948(1),0.327676,0.0665,rs12967407,,,,,,chr18,28913599,28913599,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly244Gly/c.732C>T|1049|DSG1|protein_coding|CODING|NM_001942.2|7|1),,,,,0.4949,0.2882,0.501,0.44,0.32,0.50,,,,,,,,,,,,,,,,
synonymous_variant,DSG4,SILENT,NM_001134453.1:p.Arg86Arg/c.258G>A,cgG/cgA,LOW,,0.720647,0.8839,rs16959856,,,,,,chr18,28968371,28968371,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg86Arg/c.258G>A|1059|DSG4|protein_coding|CODING|NM_001134453.1|4|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg86Arg/c.258G>A|1040|DSG4|protein_coding|CODING|NM_177986.3|4|1),intron_variant(MODIFIER|||n.157-33955C>T||DSG1-AS1||NON_CODING|NR_110788.1|1|1)",,,,,0.6708,0.8617,0.7644,0.69,0.56,0.76,,,,,,,,,,,,,,,,
synonymous_variant,DSG4,SILENT,NM_001134453.1:p.Ser165Ser/c.495C>T,agC/agT,LOW,,0.804912,0.9375,rs9956865,,,,,,chr18,28968959,28968959,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser165Ser/c.495C>T|1059|DSG4|protein_coding|CODING|NM_001134453.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser165Ser/c.495C>T|1040|DSG4|protein_coding|CODING|NM_177986.3|5|1),intron_variant(MODIFIER|||n.157-34543G>A||DSG1-AS1||NON_CODING|NR_110788.1|1|1)",,,,,0.6759,0.8847,0.7654,0.78,0.81,0.76,,,,,,,,,,,,,,,,
missense_variant,DSG4,MISSENSE,NM_001134453.1:p.Ile644Leu/c.1930A>C,Att/Ctt,MODERATE,,0.965855,1,rs4799570,1(T),"0.0,0.0(B,B)",-2.405(N),-0.9679(T),,chr18,28986333,28986333,A,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile644Leu/c.1930A>C|1059|DSG4|protein_coding|CODING|NM_001134453.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile644Leu/c.1930A>C|1040|DSG4|protein_coding|CODING|NM_177986.3|12|1),intron_variant(MODIFIER|||n.156+20463T>G||DSG1-AS1||NON_CODING|NR_110788.1|1|1)",,,,,0.9571,0.9553,0.9066,0.92,0.98,0.90,,0.117263(N),1.000(P),"0.95,0.95(T,T)",0.0000(T),0.146,-1.215508,5.65,4.77,-0.121000,0.736000,1.601000,0.032000,0.762000,0.999000,5.462
synonymous_variant,DSG4,SILENT,NM_001134453.1:p.Pro935Pro/c.2805A>G,ccA/ccG,LOW,,0.393371,0.5139,rs12960081,,,,,,chr18,28993183,28993183,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro935Pro/c.2805A>G|1059|DSG4|protein_coding|CODING|NM_001134453.1|15|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro916Pro/c.2748A>G|1040|DSG4|protein_coding|CODING|NM_177986.3|16|1),intron_variant(MODIFIER|||n.156+13613T>C||DSG1-AS1||NON_CODING|NR_110788.1|1|1)",,,,,0.411,0.4856,0.4781,0.39,0.23,0.47,,,,,,,,,,,,,,,,
synonymous_variant,DSG4,SILENT,NM_001134453.1:p.Pro1041Pro/c.3123C>A,ccC/ccA,LOW,,0.743211,0.8988,rs7234288,,,,,,chr18,28993501,28993501,C,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1041Pro/c.3123C>A|1059|DSG4|protein_coding|CODING|NM_001134453.1|15|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1022Pro/c.3066C>A|1040|DSG4|protein_coding|CODING|NM_177986.3|16|1),intron_variant(MODIFIER|||n.156+13295G>T||DSG1-AS1||NON_CODING|NR_110788.1|1|1)",,,,,0.7137,0.696,0.7485,0.72,0.69,0.74,,,,,,,,,,,,,,,,
missense_variant,DSG3,MISSENSE,NM_001944.2:p.Thr912Ala/c.2734A>G,Acc/Gcc,MODERATE,,0.999201,1,rs1380866,0.33(T),0.0(B),-0.69(N),-1.0292(T),,chr18,29055957,29055957,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr912Ala/c.2734A>G|999|DSG3|protein_coding|CODING|NM_001944.2|16|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,1,1,0.996,1.00,1.00,1.00,,0.381277(N),1.000(P),0.18(T),0.0000(T),0.021,0.701020,5.39,1.12,-0.119000,-0.236000,-0.201000,0.003000,0.001000,0.000000,5.7316
missense_variant,SLC25A52,MISSENSE,NM_001034172.2:p.Leu249Ile/c.745C>A,Cta/Ata,MODERATE,COSM4130950(1),1,1,rs3859364,1(T),0.005(B),0.32(N),-0.9304(T),,chr18,29339910,29339910,G,T,hom,missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu249Ile/c.745C>A|307|SLC25A52|protein_coding|CODING|NM_001034172.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,0.032486(N),1.000(P),-1.78(D),0.0000(T),0.075,0.826507,1.22,1.22,-0.458000,-0.011000,2.335000,0.541000,0.015000,1.000000,5.4553
missense_variant,TRAPPC8,MISSENSE,NM_014939.3:p.Leu137Ser/c.410T>C,tTg/tCg,MODERATE,,0.9998,1,rs6506948,1(T),0.0(B),-1.935(N),-0.9399(T),,chr18,29497573,29497573,A,G,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu137Ser/c.410T>C|1435|TRAPPC8|protein_coding|CODING|NM_014939.3|3|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),0.928(P),3.51(T),0.0000(T),0.691,3.147218,6.05,6.05,-0.128000,1.587000,7.663000,0.989000,1.000000,1.000000,15.6505
synonymous_variant,MEP1B,SILENT,NM_005925.2:p.Ser264Ser/c.792G>A,tcG/tcA,LOW,COSM4000394(1),0.230431,0.126,rs4799640,,,,,,chr18,29788107,29788107,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser264Ser/c.792G>A|701|MEP1B|protein_coding|CODING|NM_005925.2|9|1),,,,,0.3078,0.1902,0.2207,0.25,0.27,0.24,,,,,,,,,,,,,,,,
synonymous_variant,MEP1B,SILENT,NM_005925.2:p.Ser537Ser/c.1611T>C,tcT/tcC,LOW,COSM3932826(1),0.69349,0.873,rs173032,,,,,,chr18,29795076,29795076,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser537Ser/c.1611T>C|701|MEP1B|protein_coding|CODING|NM_005925.2|12|1),,,,,0.6656,0.7522,0.6859,0.62,0.55,0.65,,,,,,,,,,,,,,,,
missense_variant,MEP1B,MISSENSE,NM_005925.2:p.Ser546Pro/c.1636T>C,Tct/Cct,MODERATE,COSM4153949(1),0.83147,0.995,rs233223,0.42(T),0.0(B),-2.105(N),-0.9651(T),,chr18,29795101,29795101,T,C,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser546Pro/c.1636T>C|701|MEP1B|protein_coding|CODING|NM_005925.2|12|1),,,,,0.7607,0.8372,0.7425,0.75,0.81,0.72,,0.000000(N),0.000(P),2.11(T),0.0000(T),0.075,0.617371,5.97,4.14,-0.119000,0.388000,-0.020000,0.439000,0.998000,0.017000,9.1155
missense_variant,MEP1B,MISSENSE,NM_005925.2:p.Pro695Leu/c.2084C>T,cCg/cTg,MODERATE,COSM3756126(2),0.355831,0.255,rs616114,1(T),0.0(B),-1.39(N),-0.9256(T),,chr18,29797921,29797921,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro695Leu/c.2084C>T|701|MEP1B|protein_coding|CODING|NM_005925.2|14|1),,,,,0.4049,0.2882,0.3648,0.39,0.40,0.39,,0.017988(N),1.000(P),2.25(T),0.0000(T),0.033,-1.529447,5.68,0.414,-0.600000,-0.149000,0.916000,0.028000,0.004000,0.005000,9.8349
missense_variant,CCDC178,MISSENSE,NM_001105528.1:p.Asp601Asn/c.1801G>A,Gac/Aac,MODERATE,,0.995407,1,rs466113,0.53(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",0(N),-1.0323(T),,chr18,30804756,30804756,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp601Asn/c.1801G>A|867|CCDC178|protein_coding|CODING|NM_001105528.1|16|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp601Asn/c.1801G>A|829|CCDC178|protein_coding|CODING|NM_198995.2|17|1)",,,,,1,1,1,1.00,0.99,1.00,,,1.000(P),"2.52,2.52,2.5,2.52,2.5(T,T,T,T,T)",0.0000(T),0.033,0.414735,4.58,1.85,-2.121000,0.146000,0.101000,0.000000,0.002000,0.004000,1.5747
missense_variant,CCDC178,MISSENSE,NM_001105528.1:p.Val465Glu/c.1394T>A,gTa/gAa,MODERATE,,0.932508,0.999,rs9965081,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.245(N),-0.9954(T),,chr18,30846895,30846895,A,T,hom,"missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val465Glu/c.1394T>A|867|CCDC178|protein_coding|CODING|NM_001105528.1|13|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val465Glu/c.1394T>A|829|CCDC178|protein_coding|CODING|NM_198995.2|14|1)",,,,,0.9857,0.9452,0.9195,0.90,0.86,0.93,,,1.000(P),"0.93,0.93,0.93,0.93,0.93(T,T,T,T,T)",0.0000(T),0.175,0.031020,4.05,-0.968,-0.540000,-0.447000,-0.838000,0.000000,0.000000,0.000000,4.2666
missense_variant,ASXL3,MISSENSE,NM_030632.1:p.Asn954Ser/c.2861A>G,aAt/aGt,MODERATE,,0.703275,0.8988,rs2282632,0.8(T),0.002(B),0.895(L),-0.9787(T),,chr18,31320229,31320229,A,G,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn954Ser/c.2861A>G|2248|ASXL3|protein_coding|CODING|NM_030632.1|11|1),"GM12878:H3K27me3,HMEC:H3K27me3",,,,0.5501,0.6916,0.5249,0.60,0.78,0.52,,0.272982(N),0.997(P),0.81(T),0.0000(T),0.047,1.200986,5.72,0.361,0.533000,0.109000,0.405000,0.870000,0.907000,0.996000,5.8836
missense_variant,ASXL3,MISSENSE,NM_030632.1:p.Met1708Val/c.5122A>G,Atg/Gtg,MODERATE,,0.679113,0.8988,rs7232237,0.62(T),0.0(B),-0.205(N),-1.0373(T),,chr18,31324934,31324934,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1708Val/c.5122A>G|2248|ASXL3|protein_coding|CODING|NM_030632.1|12|1),"GM12878:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.5399,0.6816,0.5189,0.59,0.74,0.51,,,1.000(P),2.68(T),0.0000(T),0.021,-2.950943,5.86,-7.36,-0.733000,-1.640000,-1.434000,0.136000,0.000000,0.000000,3.2945
synonymous_variant,NOL4,SILENT,NM_003787.4:p.Lys200Lys/c.600A>G,aaA/aaG,LOW,,0.0161741,0,rs34881854,,,,,,chr18,31684050,31684050,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys200Lys/c.600A>G|574|NOL4|protein_coding|CODING|NM_001198546.1|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys126Lys/c.378A>G|564|NOL4|protein_coding|CODING|NM_001198547.1|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys200Lys/c.600A>G|536|NOL4|protein_coding|CODING|NM_001198548.1|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys45Lys/c.135A>G|419|NOL4|protein_coding|CODING|NM_001282527.1|5|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys200Lys/c.600A>G|638|NOL4|protein_coding|CODING|NM_003787.4|4|1)",,,,,0.0061,0.013,0.0139,0.01,0.02,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ZNF397,SILENT,NM_001135178.2:p.Arg473Arg/c.1419A>G,agA/agG,LOW,COSM1388561(2),0.349441,0.2073,rs2278463,,,,,,chr18,32826088,32826088,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg473Arg/c.1419A>G|534|ZNF397|protein_coding|CODING|NM_001135178.2|4|1),intron_variant(MODIFIER|||c.646+773A>G|275|ZNF397|protein_coding|CODING|NM_032347.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4724,0.366,0.4414,0.44,0.32,0.49,,,,,,,,,,,,,,,,
missense_variant,ZNF24,MISSENSE,NM_006965.2:p.Asn220Ser/c.659A>G,aAt/aGt,MODERATE,COSM3756139(1),0.730631,0.3571,rs2032729,0.62(T),0.001(B),0.69(N),-1.0198(T),,chr18,32917644,32917644,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn220Ser/c.659A>G|368|ZNF24|protein_coding|CODING|NM_006965.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7065,0.8184,0.9036,0.89,0.87,0.90,,0.000334(N),0.000(P),"3.64,3.64(T,T)",0.0000(T),0.011,0.058316,5.06,3.9,0.533000,1.070000,1.988000,0.454000,0.997000,0.992000,7.6349
missense_variant,C18orf21,MISSENSE,NM_031446.4:p.Thr132Ala/c.394A>G,Aca/Gca,MODERATE,,0.2498,0.248,rs2276314,1(T),0.002(B),0.39(N),-0.9914(T),,chr18,33557466,33557466,A,G,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr44Ala/c.130A>G|132|C18orf21|protein_coding|CODING|NM_001201474.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr44Ala/c.130A>G|132|C18orf21|protein_coding|CODING|NM_001201475.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr132Ala/c.394A>G|220|C18orf21|protein_coding|CODING|NM_031446.4|4|1),intron_variant(MODIFIER|||c.301-1332A>G|130|C18orf21|protein_coding|CODING|NM_001201476.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2352,0.1859,0.2137,0.25,0.32,0.22,,0.145670(N),1.000(P),1.0(T),0.0000(T),0.376,0.588546,5.52,-9.47,-0.379000,-2.144000,-1.358000,0.059000,0.000000,0.000000,13.2713
synonymous_variant,RPRD1A,SILENT,NM_018170.3:p.Arg38Arg/c.114T>G,cgT/cgG,LOW,,0.936102,1,rs1789517,,,,,,chr18,33647254,33647254,A,C,het,synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg38Arg/c.114T>G|312|RPRD1A|protein_coding|CODING|NM_018170.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.9703,0.9467,0.9274,0.91,0.87,0.93,,,,,,,,,,,,,,,,
missense_variant,SLC39A6,MISSENSE,NM_012319.3:p.Glu119Asp/c.357G>C,gaG/gaC,MODERATE,,0.961462,1,rs1789528,0.85(T),0.0(B),-0.69(N),-0.9978(T),,chr18,33706614,33706614,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu119Asp/c.357G>C|755|SLC39A6|protein_coding|CODING|NM_012319.3|2|1),intron_variant(MODIFIER|||c.-36-1951G>C|433|SLC39A6|protein_coding|CODING|NM_001099406.1|1|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.96,0.89,1.00,,,0.000(P),1.06(T),0.0000(T),0.064,-2.808484,1.33,1.33,-1.964000,0.170000,-0.033000,0.115000,0.847000,0.348000,5.5338
missense_variant,MOCOS,MISSENSE,NM_017947.2:p.Ser22Arg/c.66C>A,agC/agA,MODERATE,COSM4130970(1),0.0463259,0.0069,rs113873219,0.44(T),0.652(P),0(N),-1.0062(T),,chr18,33767568,33767568,C,A,het,missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser22Arg/c.66C>A|888|MOCOS|protein_coding|CODING|NM_017947.2|1|1),"H1ESC:PolII,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,K562:ELF1,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.0337,0.0778,0.1103,0.06,0.02,0.08,,0.116394(N),1.000(P),2.48(T),0.0007(T),0.22,3.641158,3.83,2.05,0.491000,0.586000,-0.697000,0.167000,0.005000,0.000000,6.078
synonymous_variant,MOCOS,SILENT,NM_017947.2:p.Arg159Arg/c.475C>A,Cgg/Agg,LOW,,0.995407,1,rs646424,,,,,,chr18,33779821,33779821,C,A,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg159Arg/c.475C>A|888|MOCOS|protein_coding|CODING|NM_017947.2|4|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,MOCOS,MISSENSE,NM_017947.2:p.Thr170Ile/c.509C>T,aCc/aTc,MODERATE,,0.864417,0.8631,rs386602004,0.56(T),0.008(B),-0.77(N),-1.0307(T),,chr18,33779855,33779855,C,T,hom,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr170Ile/c.509C>T|888|MOCOS|protein_coding|CODING|NM_017947.2|4|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8589,0.8991,0.9384,0.91,0.83,0.95,,0.146639(N),1.000(P),1.81(T),0.0000(T),0.06,-2.273419,5.32,0.728,0.591000,0.176000,1.737000,0.007000,0.015000,0.322000,7.8011
missense_variant,MOCOS,MISSENSE,NM_017947.2:p.Ser184Gly/c.550A>G,Agt/Ggt,MODERATE,,0.993411,1,rs540967,0.4(T),0.0(B),0.895(L),-0.9380(T),,chr18,33779896,33779896,A,G,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser184Gly/c.550A>G|888|MOCOS|protein_coding|CODING|NM_017947.2|4|1),"H1ESC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,0.252061(N),1.000(P),-2.19(D),0.0000(T),0.025,-1.194116,5.32,-0.549,-2.456000,-0.166000,-0.012000,0.000000,0.000000,0.000000,2.0712
missense_variant,MOCOS,MISSENSE,NM_017947.2:p.His225Arg/c.674A>G,cAc/cGc,MODERATE,,0.992612,0.996,rs623558,0.73(T),0.0(B),-1.2(N),-0.9834(T),,chr18,33780020,33780020,A,G,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His225Arg/c.674A>G|888|MOCOS|protein_coding|CODING|NM_017947.2|4|1),"H1ESC:H3K36me3,K562:H3K4me1,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,0.237560(N),1.000(P),-2.22(D),0.0000(T),0.01,-1.633905,5.65,1.7,-2.304000,-0.100000,1.383000,0.001000,0.005000,0.307000,2.9232
missense_variant,MOCOS,MISSENSE,NM_017947.2:p.Val358Met/c.1072G>A,Gtg/Atg,MODERATE,,0.855032,0.8611,rs678560,0.12(T),0.001(B),0.115(N),-0.9024(T),,chr18,33785093,33785093,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val358Met/c.1072G>A|888|MOCOS|protein_coding|CODING|NM_017947.2|6|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8609,0.8934,0.9364,0.90,0.81,0.95,,0.013852(N),1.000(P),1.57(T),0.0000(T),0.03,0.088538,5.89,-11.8,-0.134000,-2.913000,0.010000,0.010000,0.000000,0.000000,2.4443
synonymous_variant,MOCOS,SILENT,NM_017947.2:p.Pro388Pro/c.1164A>G,ccA/ccG,LOW,,0.992812,1,rs667667,,,,,,chr18,33785185,33785185,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro388Pro/c.1164A>G|888|MOCOS|protein_coding|CODING|NM_017947.2|6|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.999,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,MOCOS,MISSENSE,NM_017947.2:p.His703Asn/c.2107C>A,Cat/Aat,MODERATE,COSM3756140(1),0.222843,0.244,rs594445,0.16(T),0.048(B),1.845(L),-0.9247(T),,chr18,33831189,33831189,C,A,het,missense_variant(MODERATE|MISSENSE|Cat/Aat|p.His703Asn/c.2107C>A|888|MOCOS|protein_coding|CODING|NM_017947.2|11|1),"HUVEC:H3K27me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2761,0.3487,0.2932,0.22,0.09,0.28,,0.000001(D),0.923(P),2.33(T),0.0000(T),0.09,1.726291,5.52,5.52,0.655000,2.597000,3.537000,0.333000,0.968000,1.000000,14.9506
synonymous_variant,FHOD3,SILENT,NM_001281740.1:p.Asn1159Asn/c.3477C>T,aaC/aaT,LOW,,0.319489,0.3194,rs3744903,,,,,,chr18,34310668,34310668,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn967Asn/c.2901C>T|1422|FHOD3|protein_coding|CODING|NM_001281739.1|16|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1159Asn/c.3477C>T|1622|FHOD3|protein_coding|CODING|NM_001281740.1|20|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn984Asn/c.2952C>T|1439|FHOD3|protein_coding|CODING|NM_025135.3|17|1)","HMEC:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.4622,0.4452,0.3161,0.29,0.19,0.34,,,,,,,,,,,,,,,,
missense_variant,FHOD3,MISSENSE,NM_001281740.1:p.Val1326Ile/c.3976G>A,Gta/Ata,MODERATE,,0.376198,0.3204,rs2303510,0.18(T),"0.145,0.488,0.622,0.12(B,P,P,B)",0.73(N),-0.8035(T),,chr18,34324091,34324091,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1134Ile/c.3400G>A|1422|FHOD3|protein_coding|CODING|NM_001281739.1|19|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1326Ile/c.3976G>A|1622|FHOD3|protein_coding|CODING|NM_001281740.1|23|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val1151Ile/c.3451G>A|1439|FHOD3|protein_coding|CODING|NM_025135.3|20|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.453,0.389,0.3042,0.36,0.41,0.33,,0.000000(D),0.000(P),"2.36,2.36,2.36(T,T,T)",0.0000(T),0.107,4.066190,5.29,5.29,0.563000,2.451000,7.884000,0.994000,1.000000,1.000000,17.5052
synonymous_variant,TPGS2,SILENT,NM_001271951.1:p.Glu36Glu/c.108G>A,gaG/gaA,LOW,,0.123602,0.004,rs1045781,,,,,,chr18,34398914,34398914,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|265|TPGS2|protein_coding|CODING|NM_001271949.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|257|TPGS2|protein_coding|CODING|NM_001271950.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|304|TPGS2|protein_coding|CODING|NM_001271951.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|231|TPGS2|protein_coding|CODING|NM_001271953.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|227|TPGS2|protein_coding|CODING|NM_001271954.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|130|TPGS2|protein_coding|CODING|NM_001271955.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|232|TPGS2|protein_coding|CODING|NM_001271956.1|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu36Glu/c.108G>A|300|TPGS2|protein_coding|CODING|NM_015476.3|2|1),5_prime_UTR_variant(MODIFIER||37|c.-37G>A|179|TPGS2|protein_coding|CODING|NM_001271952.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.183,0.2277,0.2644,0.21,0.06,0.28,,,,,,,,,,,,,,,,
synonymous_variant,SYT4,SILENT,NM_020783.3:p.Leu67Leu/c.201A>G,ctA/ctG,LOW,,,,,,,,,,chr18,40854193,40854193,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu67Leu/c.201A>G|425|SYT4|protein_coding|CODING|NM_020783.3|2|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SETBP1,MISSENSE,NM_001130110.1:p.Ala222Thr/c.664G>A,Gca/Aca,MODERATE,,0.493011,0.4762,rs663651,0.11(T),0.0(B),,-0.9318(T),,chr18,42456653,42456653,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala222Thr/c.664G>A|242|SETBP1|protein_coding|CODING|NM_001130110.1|4|1),intron_variant(MODIFIER|||c.540+7405G>A|1596|SETBP1|protein_coding|CODING|NM_015559.2|3|1)",NHEK:H3K36me3,,,,0.4489,0.4524,0.5616,,,,,,1.000(P),,0.0000(T),0.006,-0.593310,3.41,-0.915,-0.254000,-0.462000,-0.969000,0.001000,0.000000,0.000000,0.4254
missense_variant,SETBP1,MISSENSE,NM_015559.2:p.Val231Leu/c.691G>C,Gtc/Ctc,MODERATE,,0.156749,0.0139,rs11082414,0.14(T),0.01(B),0(N),-1.0114(T),,chr18,42529996,42529996,G,C,het,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val231Leu/c.691G>C|1596|SETBP1|protein_coding|CODING|NM_015559.2|4|1),"HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2229,0.1859,0.2028,0.19,0.15,0.20,,0.545835(N),0.081(P),1.33(T),0.0000(T),0.016,0.390461,5.61,-5.47,-0.768000,-1.076000,-0.123000,0.449000,0.091000,0.002000,10.5593
missense_variant,SETBP1,MISSENSE,NM_015559.2:p.Pro1130Thr/c.3388C>A,Cct/Act,MODERATE,,0.11861,0.1895,rs1064204,0.17(T),0.003(B),0.695(N),-1.0868(T),,chr18,42532693,42532693,C,A,het,missense_variant(MODERATE|MISSENSE|Cct/Act|p.Pro1130Thr/c.3388C>A|1596|SETBP1|protein_coding|CODING|NM_015559.2|4|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.1012,0.2435,0.1103,0.10,0.05,0.12,,0.002561(N),0.000(P),-0.38(T),0.0001(T),0.102,0.343735,5.88,4.09,0.561000,0.823000,1.873000,0.928000,0.999000,1.000000,2.183
synonymous_variant,SETBP1,SILENT,NM_015559.2:p.Ser1275Ser/c.3825A>G,tcA/tcG,LOW,,0.906949,0.9405,rs8096662,,,,,,chr18,42533130,42533130,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1275Ser/c.3825A>G|1596|SETBP1|protein_coding|CODING|NM_015559.2|4|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.7802,0.9496,0.8529,0.90,0.97,0.86,,,,,,,,,,,,,,,,
missense_variant,SLC14A2,MISSENSE,NM_001242692.1:p.Ile132Val/c.394A>G,Atc/Gtc,MODERATE,,0.892971,0.8532,rs1484873,1(T),"0.0,0.0(B,B)",-2.295(N),-0.9509(T),,chr18,43206985,43206985,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile132Val/c.394A>G|920|SLC14A2|protein_coding|CODING|NM_001242692.1|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile132Val/c.394A>G|920|SLC14A2|protein_coding|CODING|NM_007163.3|4|1)",H1ESC:DNase1,,,,0.9315,0.8818,0.9314,0.93,0.88,0.95,,0.000004(N),0.000(P),"0.88,0.88(T,T)",0.0000(T),0.068,0.935818,5.22,5.22,-0.213000,1.452000,7.110000,0.791000,0.897000,1.000000,14.1654
missense_variant,SLC14A2,MISSENSE,NM_001242692.1:p.Arg510Gln/c.1529G>A,cGa/cAa,MODERATE,COSM148424(2),0.373403,0.3423,rs9960464,0.6(T),0.0(B),-1.39(N),-0.9537(T),,chr18,43246156,43246156,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg510Gln/c.1529G>A|920|SLC14A2|protein_coding|CODING|NM_001242692.1|13|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg510Gln/c.1529G>A|920|SLC14A2|protein_coding|CODING|NM_007163.3|12|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H2BK20ac,CD4:H3K27ac,CD4:H3K4me1,CD4:H4K5ac,CD4:H3K4ac,CD4:H2BK120ac",,,,0.3937,0.4712,0.4314,0.41,0.33,0.45,,0.385873(N),1.000(P),1.45(T),0.0000(T),0.037,0.667826,6.04,-11.7,-0.405000,-1.612000,-0.763000,0.146000,0.000000,0.000000,6.7344
synonymous_variant,SLC14A2,SILENT,NM_001242692.1:p.Val553Val/c.1659C>G,gtC/gtG,LOW,COSM148425(1),0.65016,0.4296,rs2156609,,,,,,chr18,43247001,43247001,C,G,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val553Val/c.1659C>G|920|SLC14A2|protein_coding|CODING|NM_001242692.1|14|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val553Val/c.1659C>G|920|SLC14A2|protein_coding|CODING|NM_007163.3|13|1)","CD4:H4K91ac,CD4:H2BK20ac,CD4:H3K27ac,CD4:H3K4me1,CD4:H4K5ac,HepG2:H3K27me3,GM12878:H3K4me2",,,,0.6984,0.7464,0.7962,0.76,0.63,0.83,,,,,,,,,,,,,,,,
missense_variant,SLC14A2,MISSENSE,NM_001242692.1:p.Ala880Thr/c.2638G>A,Gcc/Acc,MODERATE,COSM1130064(3),0.427716,0.3869,rs3745009,0.38(T),0.024(B),1.53(L),-0.9396(T),,chr18,43262359,43262359,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala880Thr/c.2638G>A|920|SLC14A2|protein_coding|CODING|NM_001242692.1|21|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala880Thr/c.2638G>A|920|SLC14A2|protein_coding|CODING|NM_007163.3|20|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5276,0.3761,0.4404,0.43,0.39,0.45,,0.001291(N),0.000(P),0.72(T),0.0000(T),0.149,2.766981,5.14,5.14,0.561000,2.390000,1.970000,0.993000,0.967000,0.978000,18.2166
missense_variant,SLC14A2,MISSENSE,NM_001242692.1:p.Arg896His/c.2687G>A,cGc/cAc,MODERATE,,0.00519169,0.001,rs41301139,0.03(D),0.988(D),2.11(M),-0.7515(T),,chr18,43262408,43262408,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg896His/c.2687G>A|920|SLC14A2|protein_coding|CODING|NM_001242692.1|21|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg896His/c.2687G>A|920|SLC14A2|protein_coding|CODING|NM_007163.3|20|1)","GM06990:H3K27me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.002,0.0101,0.0139,0.01,0.00,0.02,,0.000753(N),1.000(D),1.04(T),0.1340(T),0.297,4.528185,5.26,4.38,0.561000,1.213000,4.784000,0.980000,0.876000,1.000000,13.6071
missense_variant,SLC14A1,MISSENSE,NM_001146037.1:p.Arg4Trp/c.10C>T,Cgg/Tgg,MODERATE,COSM3756142(1),0.401957,0.5188,rs11877062,0.01(D),0.555(P),1.1(L),-0.9062(T),,chr18,43307246,43307246,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg4Trp/c.10C>T|445|SLC14A1|protein_coding|CODING|NM_001146037.1|1|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg4Trp/c.10C>T|445|SLC14A1|protein_coding|CODING|NM_001128588.3|3|1),intron_variant(MODIFIER|||c.-108-51C>T|389|SLC14A1|protein_coding|CODING|NM_001146036.2|2|1),intron_variant(MODIFIER|||c.-22+2268C>T|389|SLC14A1|protein_coding|CODING|NM_015865.6|2|1)","HUVEC:H3K27me3,NH-A:DNase1,HepG2:H3K27me3",,,,0.3875,0.5115,0.5089,0.41,0.21,0.49,,,0.000(P),"0.8,0.8(T,T)",0.0000(T),0.05,3.288793,4.61,2.81,0.467000,0.488000,0.567000,0.911000,0.918000,0.376000,6.976
synonymous_variant,SLC14A1,SILENT,NM_001146037.1:p.Gly34Gly/c.102C>A,ggC/ggA,LOW,COSM3756143(1),0.402556,0.5198,rs11877086,,,,,,chr18,43307338,43307338,C,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly34Gly/c.102C>A|445|SLC14A1|protein_coding|CODING|NM_001146037.1|1|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly34Gly/c.102C>A|445|SLC14A1|protein_coding|CODING|NM_001128588.3|3|1),5_prime_UTR_variant(MODIFIER||2948|c.-67C>A|389|SLC14A1|protein_coding|CODING|NM_001146036.2|3|1),intron_variant(MODIFIER|||c.-22+2360C>A|389|SLC14A1|protein_coding|CODING|NM_015865.6|2|1)","HUVEC:H3K27me3,NH-A:DNase1,HepG2:H3K27me3",,,,0.3875,0.5115,0.5099,0.41,0.21,0.49,,,,,,,,,,,,,,,,
synonymous_variant,SLC14A1,SILENT,NM_001128588.3:p.Pro252Pro/c.756A>G,ccA/ccG,LOW,COSM438130(2),0.711262,0.9315,rs2298718,,,,,,chr18,43316538,43316538,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro252Pro/c.756A>G|445|SLC14A1|protein_coding|CODING|NM_001128588.3|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro196Pro/c.588A>G|389|SLC14A1|protein_coding|CODING|NM_001146036.2|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro252Pro/c.756A>G|445|SLC14A1|protein_coding|CODING|NM_001146037.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro196Pro/c.588A>G|389|SLC14A1|protein_coding|CODING|NM_015865.6|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6759,0.7464,0.5865,0.58,0.63,0.55,,,,,,,,,,,,,,,,
missense_variant,SLC14A1,MISSENSE,NM_001128588.3:p.Asp336Asn/c.1006G>A,Gac/Aac,MODERATE,COSM3736180(2),0.410942,0.5258,rs1058396,0.5(T),"0.002,0.008,0.008(B,B,B)",0.385(N),-0.9508(T),,chr18,43319519,43319519,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp336Asn/c.1006G>A|445|SLC14A1|protein_coding|CODING|NM_001128588.3|9|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp280Asn/c.838G>A|389|SLC14A1|protein_coding|CODING|NM_001146036.2|9|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp336Asn/c.1006G>A|445|SLC14A1|protein_coding|CODING|NM_001146037.1|7|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp280Asn/c.838G>A|389|SLC14A1|protein_coding|CODING|NM_015865.6|8|1)","HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H3K36me3",,RCV000019290.1,,0.3712,0.5187,0.501,0.41,0.27,0.49,,0.026306(N),0.010(P),"0.74,0.74,0.74,0.74,0.74,0.74(T,T,T,T,T,T)",0.0000(T),0.106,0.971992,5.62,-7.56,0.591000,-1.283000,0.700000,0.859000,0.182000,0.104000,13.0875
synonymous_variant,SLC14A1,SILENT,NM_001128588.3:p.Ser421Ser/c.1263T>C,agT/agC,LOW,,0.00279553,0,rs28898897,,,,,,chr18,43329841,43329841,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser421Ser/c.1263T>C|445|SLC14A1|protein_coding|CODING|NM_001128588.3|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser365Ser/c.1095T>C|389|SLC14A1|protein_coding|CODING|NM_001146036.2|11|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser421Ser/c.1263T>C|445|SLC14A1|protein_coding|CODING|NM_001146037.1|9|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser365Ser/c.1095T>C|389|SLC14A1|protein_coding|CODING|NM_015865.6|10|1)",HUVEC:H3K27me3,,,,0.0061,0.0029,0.006,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,EPG5,MISSENSE,NM_020964.2:p.Ala1511Val/c.4532C>T,gCt/gTt,MODERATE,,0.320288,0.3046,rs1893523,0.36(T),0.0(B),-0.69(N),-0.9219(T),,chr18,43481075,43481075,G,A,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala1511Val/c.4532C>T|2579|EPG5|protein_coding|CODING|NM_020964.2|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3047,0.3329,0.169,0.23,0.40,0.14,,,1.000(P),2.97(T),0.0000(T),0.025,0.155387,5.59,-3.12,-1.204000,-1.280000,0.057000,0.075000,0.005000,0.000000,5.9743
synonymous_variant,EPG5,SILENT,NM_020964.2:p.His1363His/c.4089C>T,caC/caT,LOW,,0.266374,0.3095,rs3744996,,,,,,chr18,43490602,43490602,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1363His/c.4089C>T|2579|EPG5|protein_coding|CODING|NM_020964.2|23|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,NH-A:H3K36me3,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,NH-A:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.3016,0.3055,0.166,0.18,0.25,0.14,,,,,,,,,,,,,,,,
missense_variant,EPG5,MISSENSE,NM_020964.2:p.Val1058Ala/c.3173T>C,gTt/gCt,MODERATE,,0.426917,0.5734,rs3744998,0.01(D),"0.636,0.636(P,P)",1.845(L),-0.9215(T),,chr18,43497710,43497710,A,G,het,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1058Ala/c.3173T>C|2579|EPG5|protein_coding|CODING|NM_020964.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.4222,0.5497,0.48,0.29,0.57,,0.000033(D),0.000(P),2.48(T),0.0000(T),0.33,3.644132,5.4,5.4,0.533000,2.178000,6.681000,0.526000,1.000000,1.000000,15.712
missense_variant,PSTPIP2,MISSENSE,NM_024430.3:p.Asn322Asp/c.964A>G,Aat/Gat,MODERATE,COSM148428(1),0.311102,0.4127,rs2276199,0.97(T),0.0(B),-1.87(N),-0.9204(T),,chr18,43568717,43568717,T,C,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn322Asp/c.964A>G|334|PSTPIP2|protein_coding|CODING|NM_024430.3|14|1),"K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0869,0.2176,0.1312,0.26,0.51,0.13,,0.016664(N),0.000(P),1.39(T),0.0000(T),0.005,-1.058452,5.74,4.87,-0.128000,0.788000,1.864000,0.002000,0.674000,0.980000,8.9937
missense_variant,LOXHD1,MISSENSE,NM_144612.6:p.Arg1155Gly/c.3463A>G,Agg/Ggg,MODERATE,,0.694688,0.6677,rs1893566,0.26(T),"0.007,0.0,0.007(B,B,B)",-1.1(N),-1.0217(T),,chr18,44126909,44126909,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg44Gly/c.130A>G|1114|LOXHD1|protein_coding|CODING|NM_001145472.2|4|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg1155Gly/c.3463A>G|2211|LOXHD1|protein_coding|CODING|NM_144612.6|22|1)",,,RCV000041206.1,,0.7249,0.7003,0.829,0.77,0.63,0.84,,0.001730(N),0.404(P),"1.92,3.37,3.37,3.39,1.8(T,T,T,T,T)",0.0000(T),0.168,0.384649,4.9,4.9,-0.226000,1.072000,1.438000,0.008000,0.083000,0.127000,9.4732
missense_variant,TCEB3B,MISSENSE,NM_016427.2:p.Ala403Ser/c.1207G>T,Gcc/Tcc,MODERATE,,0.596845,0.6518,rs386619763,1(T),0.0(B),-0.55(N),-0.9597(T),,chr18,44560429,44560429,C,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala403Ser/c.1207G>T|753|TCEB3B|protein_coding|CODING|NM_016427.2|1|1),intron_variant(MODIFIER|||c.-94-18822C>A|466|KATNAL2|protein_coding|CODING|NM_031303.2|1|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5879,0.6772,0.5268,0.55,0.59,0.53,,0.978715(N),1.000(P),3.37(T),0.0000(T),0.025,-1.916769,2.19,-0.254,-1.221000,-0.396000,-0.515000,0.000000,0.001000,0.007000,2.9058
missense_variant,TCEB3B,MISSENSE,NM_016427.2:p.Arg179Pro/c.536G>C,cGg/cCg,MODERATE,COSM3756151(2),0.564097,0.6518,rs2571028,0.62(T),0.0(B),-1.04(N),-0.9654(T),,chr18,44561100,44561100,C,G,het,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg179Pro/c.536G>C|753|TCEB3B|protein_coding|CODING|NM_016427.2|1|1),intron_variant(MODIFIER|||c.-94-18151C>G|466|KATNAL2|protein_coding|CODING|NM_031303.2|1|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5879,0.6643,0.5268,0.51,0.48,0.52,,0.003927(N),1.000(P),3.24(T),0.0000(T),0.007,-0.342720,2.59,-5.18,-1.188000,-3.593000,-2.327000,0.000000,0.000000,0.000000,2.6295
missense_variant,TCEB3B,MISSENSE,NM_016427.2:p.Thr6Ser/c.17C>G,aCt/aGt,MODERATE,,0.0379393,0.0069,rs61738602,1(T),0.003(B),-1.185(N),-0.9741(T),,chr18,44561619,44561619,G,C,het,"missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr6Ser/c.17C>G|753|TCEB3B|protein_coding|CODING|NM_016427.2|1|1),intron_variant(MODIFIER|||c.-94-17632G>C|466|KATNAL2|protein_coding|CODING|NM_031303.2|1|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.0041,0.0418,0.0835,0.07,0.06,0.07,,0.016384(N),1.000(P),3.51(T),0.0002(T),0.015,-3.777083,0.195,-0.39,-2.620000,-2.617000,-1.886000,0.000000,0.000000,0.000000,.
synonymous_variant,TCEB3B,SILENT,NM_016427.2:p.Ala2Ala/c.6G>A,gcG/gcA,LOW,,0.0379393,0.0069,rs61746775,,,,,,chr18,44561630,44561630,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2Ala/c.6G>A|753|TCEB3B|protein_coding|CODING|NM_016427.2|1|1),intron_variant(MODIFIER|||c.-94-17621C>T|466|KATNAL2|protein_coding|CODING|NM_031303.2|1|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.0041,0.0418,0.0835,0.07,0.06,0.07,,,,,,,,,,,,,,,,
missense_variant,SKOR2,MISSENSE,NM_001278063.1:p.Cys725Ser/c.2173T>A,Tgc/Agc,MODERATE,COSM3821517(5),0.415935,0.2996,rs9956387,1(T),,-0.695(N),-0.9299(T),,chr18,44773382,44773382,A,T,het,"missense_variant(MODERATE|MISSENSE|Tgc/Agc|p.Cys725Ser/c.2173T>A|1015|SKOR2|protein_coding|CODING|NM_001278063.1|1|1),intron_variant(MODIFIER|||c.774+1399T>A|296|SKOR2|protein_coding|CODING|NM_001037802.1|1|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.4581,0.4078,0.5258,,,,,,0.000(P),-0.24(T),0.0000(T),0.102,-1.280436,4.64,3.45,-0.827000,0.162000,2.126000,0.081000,1.000000,1.000000,9.0712
synonymous_variant,CTIF,SILENT,NM_001142397.1:p.Leu294Leu/c.882T>C,ctT/ctC,LOW,COSM1162539(1),0.859026,0.8889,rs1038308,,,,,,chr18,46284587,46284587,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu294Leu/c.882T>C|598|CTIF|protein_coding|CODING|NM_014772.2|8|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu294Leu/c.882T>C|600|CTIF|protein_coding|CODING|NM_001142397.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7986,0.7507,0.7833,0.84,0.96,0.77,,,,,,,,,,,,,,,,
missense_variant,LIPG,MISSENSE,NM_006033.2:p.Thr111Ile/c.332C>T,aCa/aTa,MODERATE,COSM3756154(1),0.240615,0.3274,rs2000813,0.09(T),"0.006,0.006,0.004(B,B,B)",0.265(N),-1.0767(T),,chr18,47093864,47093864,C,T,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr111Ile/c.332C>T|500|LIPG|protein_coding|CODING|NM_006033.2|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3313,0.2277,0.3022,0.23,0.11,0.29,,0.397833(N),1.000(P),"-2.67,-2.67(D,D)",0.0000(T),0.289,1.238711,5.13,-3.65,0.561000,-0.342000,0.406000,0.332000,0.170000,0.013000,5.0178
missense_variant,MYO5B,MISSENSE,NM_001080467.2:p.Thr126Ala/c.376A>G,Acc/Gcc,MODERATE,,0.973442,1,rs1815930,1(T),"0.0,0.0(B,B)",-2.55(N),-0.9297(T),,chr18,47563299,47563299,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr126Ala/c.376A>G|1848|MYO5B|protein_coding|CODING|NM_001080467.2|4|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,1,0.9957,1,0.98,0.93,1.00,,0.000000(N),0.000(P),-2.13(D),0.0000(T),0.076,1.160370,5.52,5.52,-0.119000,1.482000,6.058000,0.991000,1.000000,1.000000,13.6735
missense_variant,CCDC11,MISSENSE,NM_145020.3:p.Glu294Lys/c.880G>A,Gag/Aag,MODERATE,COSM4000417(2),0.19349,0.0625,rs35193847,0.64(T),0.253(B),1.445(L),-0.9377(T),,chr18,47777244,47777244,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu294Lys/c.880G>A|514|CCDC11|protein_coding|CODING|NM_145020.3|5|1),,,,,0.2556,0.1787,0.3926,0.31,0.14,0.38,,0.080955(N),1.000(P),2.74(T),0.0000(T),0.089,1.807417,5.81,4.94,0.655000,1.471000,2.060000,0.006000,0.806000,0.587000,8.4953
synonymous_variant,MBD1,SILENT,NM_001204137.1:p.Arg269Arg/c.807C>T,cgC/cgT,LOW,COSM438183(2),0.203474,0.123,rs140690,,,,,,chr18,47801800,47801800,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg269Arg/c.807C>T|630|MBD1|protein_coding|CODING|NM_001204137.1|9|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg269Arg/c.807C>T|629|MBD1|protein_coding|CODING|NM_001204138.1|9|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg269Arg/c.807C>T|574|MBD1|protein_coding|CODING|NM_001204140.1|9|1),intron_variant(MODIFIER|||c.792+170C>T|655|MBD1|protein_coding|CODING|NM_001204136.1|8|1),intron_variant(MODIFIER|||c.792+170C>T|605|MBD1|protein_coding|CODING|NM_001204139.1|8|1),intron_variant(MODIFIER|||c.645+170C>T|567|MBD1|protein_coding|CODING|NM_001204141.1|7|1),intron_variant(MODIFIER|||c.792+170C>T|550|MBD1|protein_coding|CODING|NM_001204142.1|8|1),intron_variant(MODIFIER|||c.792+170C>T|535|MBD1|protein_coding|CODING|NM_001204143.1|8|1),intron_variant(MODIFIER|||c.792+170C>T|536|MBD1|protein_coding|CODING|NM_001204151.1|7|1),intron_variant(MODIFIER|||c.792+170C>T|503|MBD1|protein_coding|CODING|NM_002384.2|8|1),intron_variant(MODIFIER|||c.792+170C>T|549|MBD1|protein_coding|CODING|NM_015844.2|8|1),intron_variant(MODIFIER|||c.792+170C>T|586|MBD1|protein_coding|CODING|NM_015845.3|8|1),intron_variant(MODIFIER|||c.792+170C>T|605|MBD1|protein_coding|CODING|NM_015846.3|8|1),intron_variant(MODIFIER|||c.645+170C>T|556|MBD1|protein_coding|CODING|NM_015847.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2331,0.1873,0.3956,0.31,0.16,0.37,,,,,,,,,,,,,,,,
synonymous_variant,MBD1,SILENT,NM_001204136.1:p.Ala80Ala/c.240G>A,gcG/gcA,LOW,,0.221046,0.5784,rs140686,,,,,,chr18,47803354,47803354,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|655|MBD1|protein_coding|CODING|NM_001204136.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|630|MBD1|protein_coding|CODING|NM_001204137.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|629|MBD1|protein_coding|CODING|NM_001204138.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|605|MBD1|protein_coding|CODING|NM_001204139.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|574|MBD1|protein_coding|CODING|NM_001204140.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|567|MBD1|protein_coding|CODING|NM_001204141.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|550|MBD1|protein_coding|CODING|NM_001204142.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|535|MBD1|protein_coding|CODING|NM_001204143.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|536|MBD1|protein_coding|CODING|NM_001204151.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|503|MBD1|protein_coding|CODING|NM_002384.2|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|549|MBD1|protein_coding|CODING|NM_015844.2|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|586|MBD1|protein_coding|CODING|NM_015845.3|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|605|MBD1|protein_coding|CODING|NM_015846.3|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala80Ala/c.240G>A|556|MBD1|protein_coding|CODING|NM_015847.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2751,0.2378,0.0746,0.06,0.03,0.08,,,,,,,,,,,,,,,,
synonymous_variant,CXXC1,SILENT,NM_001101654.1:p.Thr446Thr/c.1338T>C,acT/acC,LOW,,0.714457,0.7907,rs7228084,,,,,,chr18,47810351,47810351,A,G,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr446Thr/c.1338T>C|660|CXXC1|protein_coding|CODING|NM_001101654.1|10|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr442Thr/c.1326T>C|656|CXXC1|protein_coding|CODING|NM_014593.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7311,0.7709,0.7396,0.69,0.62,0.72,,,,,,,,,,,,,,,,
synonymous_variant,MRO,SILENT,NM_001127176.1:p.Ala177Ala/c.531C>T,gcC/gcT,LOW,COSM1130061(1),0.429513,0.3512,rs2276186,,,,,,chr18,48327815,48327815,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala177Ala/c.531C>T|262|MRO|protein_coding|CODING|NM_001127176.1|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala163Ala/c.489C>T|248|MRO|protein_coding|CODING|NM_031939.3|6|1),intron_variant(MODIFIER|||c.430-1302C>T|196|MRO|protein_coding|CODING|NM_001127174.1|4|1),intron_variant(MODIFIER|||c.472-1302C>T|210|MRO|protein_coding|CODING|NM_001127175.1|4|1)",,,,,0.5542,0.5519,0.5239,0.43,0.31,0.50,,,,,,,,,,,,,,,,
missense_variant,MRO,MISSENSE,NM_001127176.1:p.Thr148Ala/c.442A>G,Acc/Gcc,MODERATE,,0.25639,0.2798,rs2849233,1(T),"0.42,0.719,0.004,0.017(B,P,B,B)",2.135(M),-0.9191(T),,chr18,48331553,48331553,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr134Ala/c.400A>G|196|MRO|protein_coding|CODING|NM_001127174.1|4|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr148Ala/c.442A>G|210|MRO|protein_coding|CODING|NM_001127175.1|4|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr148Ala/c.442A>G|262|MRO|protein_coding|CODING|NM_001127176.1|4|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr134Ala/c.400A>G|248|MRO|protein_coding|CODING|NM_031939.3|5|1)",HepG2:H3K27me3,,,,0.3006,0.3401,0.4056,0.30,0.12,0.40,,0.001980(N),0.194(P),"-0.06,-0.08,1.49,1.49,1.49(T,T,T,T,T)",0.0000(T),0.412,3.039804,5.71,5.71,0.455000,2.177000,2.464000,0.409000,0.996000,1.000000,12.3497
missense_variant,MRO,MISSENSE,NM_001127176.1:p.Arg53Ser/c.159G>C,agG/agC,MODERATE,COSM3756160(1),0.463059,0.4673,rs4940019,0.72(T),"0.006,0.251,0.02,0.007(B,B,B,B)",2.2(M),-0.9107(T),,chr18,48333203,48333203,C,G,hom,"missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg39Ser/c.117G>C|196|MRO|protein_coding|CODING|NM_001127174.1|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg53Ser/c.159G>C|210|MRO|protein_coding|CODING|NM_001127175.1|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg53Ser/c.159G>C|262|MRO|protein_coding|CODING|NM_001127176.1|3|1),missense_variant(MODERATE|MISSENSE|agG/agC|p.Arg39Ser/c.117G>C|248|MRO|protein_coding|CODING|NM_031939.3|4|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.635,0.6816,0.496,0.40,0.24,0.48,,0.001864(N),1.000(P),"2.38,1.98,1.5,1.5,1.5(T,T,T,T,T)",0.0000(T),0.109,0.564038,5.39,2.63,-0.300000,0.271000,0.590000,0.732000,0.094000,0.019000,5.1639
synonymous_variant,MEX3C,SILENT,NM_016626.4:p.Pro158Pro/c.474G>A,ccG/ccA,LOW,COSM3756163(3),0.949281,1,rs35675106,,,,,,chr18,48723217,48723217,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro158Pro/c.474G>A|659|MEX3C|protein_coding|CODING|NM_016626.4|1|1),"NHEK:H3K9ac,K562:H3K4me3,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,K562:Znf263,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,0.9827,0.999,0.96,0.86,1.00,,,,,,,,,,,,,,,,
synonymous_variant,MEX3C,SILENT,NM_016626.4:p.Ala84Ala/c.252G>A,gcG/gcA,LOW,COSM3756164(3),0.28774,0.2202,rs4396619,,,,,,chr18,48723439,48723439,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala84Ala/c.252G>A|659|MEX3C|protein_coding|CODING|NM_016626.4|1|1),"NHEK:H3K9ac,K562:H3K4me3,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H3K4me3,HMEC:H3K27ac,K562:Znf263,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.3497,0.3545,0.4384,,,,,,,,,,,,,,,,,,,
missense_variant,DCC,MISSENSE,NM_005215.3:p.Phe23Leu/c.67T>C,Ttc/Ctc,MODERATE,,0.995807,0.998,rs9951523,0.65(T),0.0(B),0(N),-0.9660(T),,chr18,49867224,49867224,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe23Leu/c.67T>C|1447|DCC|protein_coding|CODING|NM_005215.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,0.9841,0.99,1.00,0.98,,0.295075(N),0.000(P),0.84(T),0.0000(T),0.054,1.057395,5.73,4.83,-0.215000,0.710000,1.107000,0.985000,1.000000,1.000000,10.1435
missense_variant,DCC,MISSENSE,NM_005215.3:p.Arg201Gly/c.601C>G,Cga/Gga,MODERATE,,0.477436,0.5387,rs2229080,0.03(D),"0.057,0.483(B,P)",0.675(N),-0.9134(T),,chr18,50432602,50432602,C,G,het,missense_variant(MODERATE|MISSENSE|Cga/Gga|p.Arg201Gly/c.601C>G|1447|DCC|protein_coding|CODING|NM_005215.3|3|1),,,,,0.6575,0.4813,0.4155,0.36,0.34,0.37,,0.000098(D),0.000(P),"1.11,1.11(T,T)",0.0000(T),0.478,1.883736,5.71,-0.494,0.655000,-0.304000,-0.023000,0.924000,0.972000,0.840000,17.8242
synonymous_variant,DCC,SILENT,NM_005215.3:p.Pro1036Pro/c.3108T>C,ccT/ccC,LOW,,0.310304,0.2262,rs2229082,,,,,,chr18,50936994,50936994,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1036Pro/c.3108T>C|1447|DCC|protein_coding|CODING|NM_005215.3|20|1),,,,,0.3466,0.3127,0.5368,0.44,0.24,0.54,,,,,,,,,,,,,,,,
missense_variant,POLI,MISSENSE,NM_007195.2:p.Ala731Thr/c.2191G>A,Gca/Aca,MODERATE,,0.789137,0.7054,rs8305,0.92(T),0.001(B),0.09(N),-0.9917(T),,chr18,51820805,51820805,G,A,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala731Thr/c.2191G>A|740|POLI|protein_coding|CODING|NM_007195.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7914,0.6455,0.7078,0.78,0.93,0.70,,0.649817(N),1.000(P),0.89(T),0.0000(T),0.044,1.410335,5.5,-5.15,-1.189000,-1.312000,-0.656000,0.762000,0.223000,0.019000,10.6257
missense_variant,TCF4,MISSENSE,NM_001243226.2:p.Ala10Pro/c.28G>C,Gca/Cca,MODERATE,,0.996805,1,rs611326,1(T),0.0(B),,-0.9669(T),,chr18,53303101,53303101,C,G,hom,missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala10Pro/c.28G>C|773|TCF4|protein_coding|CODING|NM_001243226.2|1|1),,,,,1,0.9986,1,1.00,1.00,1.00,,,1.000(P),1.42(T),0.0000(T),0.175,-0.246730,1.98,0.675,-0.292000,-0.229000,1.419000,0.008000,0.000000,0.315000,3.3181
synonymous_variant,WDR7,SILENT,NM_015285.2:p.Ala24Ala/c.72C>G,gcC/gcG,LOW,,0.90016,1,rs568078,,,,,,chr18,54339818,54339818,C,G,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala24Ala/c.72C>G|1490|WDR7|protein_coding|CODING|NM_015285.2|2|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala24Ala/c.72C>G|1457|WDR7|protein_coding|CODING|NM_052834.2|2|1)",,,,,1,0.9654,0.998,0.91,0.73,1.00,,,,,,,,,,,,,,,,
synonymous_variant,WDR7,SILENT,NM_015285.2:p.Ala1027Ala/c.3081G>A,gcG/gcA,LOW,,0.584864,0.6905,rs2302845,,,,,,chr18,54448778,54448778,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1027Ala/c.3081G>A|1490|WDR7|protein_coding|CODING|NM_015285.2|19|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala994Ala/c.2982G>A|1457|WDR7|protein_coding|CODING|NM_052834.2|18|1)","HUVEC:H3K36me3,CD4:H3K36me3",,,,0.6943,0.7233,0.6064,0.55,0.38,0.64,,,,,,,,,,,,,,,,
missense_variant,BOD1L2,MISSENSE,NM_001257964.1:p.Val63Met/c.187G>A,Gtg/Atg,MODERATE,,0.0547125,0.0417,rs58215084,0(D),0.099(B),,-1.0748(T),,chr18,54814730,54814730,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val63Met/c.187G>A|172|BOD1L2|protein_coding|CODING|NM_001257964.1|1|1),,,,,0.0654,0.0937,0.0328,,,,,,0.046(P),,0.0033(T),0.176,2.374324,2.34,0.413,0.585000,0.317000,6.127000,0.005000,0.057000,1.000000,6.2625
synonymous_variant,BOD1L2,SILENT,NM_001257964.1:p.Ala76Ala/c.228G>A,gcG/gcA,LOW,,0.0349441,0.0417,rs79220676,,,,,,chr18,54814771,54814771,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala76Ala/c.228G>A|172|BOD1L2|protein_coding|CODING|NM_001257964.1|1|1),K562:H3K27me3,,,,0.0307,0.0821,0.0328,,,,,,,,,,,,,,,,,,,
missense_variant,BOD1L2,MISSENSE,NM_001257964.1:p.Gly161Val/c.482G>T,gGc/gTc,MODERATE,COSM3821604(1),0.568091,0.5794,rs11151997,0.13(T),0.012(B),,-0.9350(T),,chr18,54815025,54815025,G,T,het,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly161Val/c.482G>T|172|BOD1L2|protein_coding|CODING|NM_001257964.1|1|1),K562:H3K27me3,,,,0.5982,0.5519,0.5109,,,,,,1.000(P),,0.0000(T),0.085,1.379007,2.73,-0.478,-0.291000,0.012000,0.004000,0.009000,0.001000,0.037000,3.8142
missense_variant,ST8SIA3,MISSENSE,NM_015879.2:p.Lys91Thr/c.272A>C,aAa/aCa,MODERATE,,0.36861,0.495,rs3745060,0.75(T),0.0(B),0.345(N),-0.9128(T),,chr18,55021725,55021725,A,C,het,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys91Thr/c.272A>C|380|ST8SIA3|protein_coding|CODING|NM_015879.2|2|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:Yy1,NHEK:H3K27me3,IMR90:H3K27me3,K562:Nrsf,HepG2:H3K27me3,GM12878:Nrsf",,,,0.2832,0.3199,0.159,0.26,0.45,0.16,,0.007546(N),1.000(P),1.05(T),0.0000(T),0.03,-0.241904,4.88,2.02,-0.352000,-0.039000,-0.004000,0.979000,0.987000,0.043000,2.5347
synonymous_variant,ST8SIA3,SILENT,NM_015879.2:p.Pro323Pro/c.969G>T,ccG/ccT,LOW,,,,rs1153626,,,,,,chr18,55027334,55027334,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro323Pro/c.969G>T|380|ST8SIA3|protein_coding|CODING|NM_015879.2|4|1),,,,,,,,0.23,0.39,0.16,,,,,,,,,,,,,,,,
missense_variant,ATP8B1,MISSENSE,NM_005603.4:p.Ala1152Thr/c.3454G>A,Gct/Act,MODERATE,,0.9998,1,rs222581,1(T),0.0(B),-1.32(N),-0.9600(T),,chr18,55317676,55317676,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala1152Thr/c.3454G>A|1251|ATP8B1|protein_coding|CODING|NM_005603.4|27|1),intron_variant(MODIFIER|||c.139+8392C>T|102|LOC100505549|protein_coding|CODING|NM_001242804.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000000(N),1.000(P),"1.26,1.26(T,T)",0.0000(T),0.191,-1.023423,5.51,4.34,-0.381000,0.926000,2.010000,0.010000,0.325000,1.000000,5.8321
missense_variant,LOC100505549,MISSENSE,NM_001242804.1:p.Ile48Val/c.142A>G,Ata/Gta,MODERATE,,0.244609,0.0655,rs4940499,,,,,,chr18,55335240,55335240,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile48Val/c.142A>G|102|LOC100505549|protein_coding|CODING|NM_001242804.1|3|1),splice_region_variant(LOW|||c.142A>G|102|LOC100505549|protein_coding|CODING|NM_001242804.1|3|1),intron_variant(MODIFIER|||c.2209+421T>C|1251|ATP8B1|protein_coding|CODING|NM_005603.4|19|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.3548,0.2478,0.3648,,,,,,,,,,,,,,,,,,,
missense_variant,ATP8B1,MISSENSE,NM_005603.4:p.Ile393Val/c.1177A>G,Atc/Gtc,MODERATE,,0.00279553,0,rs34315917,0.27(T),0.431(B),1.29(L),0.0072(D),,chr18,55359082,55359082,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile393Val/c.1177A>G|1251|ATP8B1|protein_coding|CODING|NM_005603.4|12|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0.0043,0.0109,0.01,0.00,0.01,,0.000000(D),1.000(D),"-2.61,-2.61(D,D)",0.5115(D),0.471,3.711265,6.06,6.06,0.533000,2.324000,3.453000,0.844000,1.000000,1.000000,16.2708
synonymous_variant,ATP8B1,SILENT,NM_005603.4:p.Arg271Arg/c.811A>C,Aga/Cga,LOW,,0.992612,1,rs319443,,,,,,chr18,55362532,55362532,T,G,hom,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg271Arg/c.811A>C|1251|ATP8B1|protein_coding|CODING|NM_005603.4|10|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,1,0.9986,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Ile2157Val/c.6469A>G,Ata/Gta,MODERATE,,0.921526,1,rs7240666,1(T),0.0(B),-1.735(N),-0.9243(T),,chr18,56149099,56149099,T,C,het,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile2157Val/c.6469A>G|2170|ALPK2|protein_coding|CODING|NM_052947.3|13|1),"HepG2:RXRA,HUVEC:H3K27me3,HepG2:p300,HepG2:H3K27ac,HSMM:H3K36me3,HepG2:SP1,IMR90:H3K36me3,HepG2:HNF4A,HepG2:FOXA2,HepG2:FOXA1,HepG2:DNase1",,,,0.9867,0.8948,0.835,0.83,0.89,0.81,,0.006204(N),1.000(P),1.12(T),0.0000(T),0.006,-1.256441,5.55,2.83,-0.726000,0.066000,0.439000,0.000000,0.000000,0.000000,5.6133
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Lys1791Lys/c.5373G>A,aaG/aaA,LOW,,0.373003,0.2381,rs7236563,,,,,,chr18,56196451,56196451,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1791Lys/c.5373G>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|6|1),"HUVEC:H3K27me3,HSMM:H3K36me3",,,,0.3436,0.415,0.5815,0.48,0.36,0.54,,,,,,,,,,,,,,,,
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Lys1667Lys/c.5001A>G,aaA/aaG,LOW,,0.930511,1,rs10469212,,,,,,chr18,56202418,56202418,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys1667Lys/c.5001A>G|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:Yy1,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:MEF2A,NHEK:H3K27me3,GM12878:PolII,GM12878:BCL11A,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,,,0.9949,0.9611,0.996,0.93,0.80,1.00,,,,,,,,,,,,,,,,
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Ala1551Ser/c.4651G>T,Gct/Tct,MODERATE,COSM3756167(1),0.33147,0.2381,rs3809983,0.53(T),"0.115,0.055(B,B)",1.24(L),-0.9210(T),,chr18,56202768,56202768,C,A,het,missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala1551Ser/c.4651G>T|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,GM12878:BATF,GM12878:H3K27ac,HSMM:H3K36me3,GM12878:Jund,GM12878:POU2F2,GM12878:Yy1,GM06990:H3K4me3,NH-A:DNase1,GM12878:Cjun,IMR90:H3K36me3,GM12878:p300,GM12878:MEF2A,GM12878:EBF,GM12878:IRF4,NHEK:H3K27me3,GM12878:PolII,GM12878:BCL11A,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:PU1,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.3415,0.3862,0.5348,0.41,0.26,0.49,,0.010641(N),1.000(P),0.86(T),0.0000(T),0.08,2.113587,5.71,-0.0922,-0.137000,0.043000,-0.557000,0.002000,0.000000,0.000000,0.4633
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Ala1479Ala/c.4437T>A,gcT/gcA,LOW,,0.672923,0.7966,rs3826594,,,,,,chr18,56202982,56202982,A,T,hom,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala1479Ala/c.4437T>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:BATF,GM12878:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:POU2F2,GM12878:Yy1,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:EBF,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12",,,,0.7168,0.6758,0.7674,0.68,0.52,0.77,,,,,,,,,,,,,,,,
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Pro1449Ser/c.4345C>T,Ccg/Tcg,MODERATE,COSM3756168(1),0.329273,0.2381,rs3809982,0.14(T),"0.96,0.913(D,D)",1.65(L),-0.9840(T),,chr18,56203074,56203074,G,A,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro1449Ser/c.4345C>T|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:Yy1,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:EBF,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,,,0.3395,0.3847,0.5308,0.41,0.26,0.48,,0.001838(N),1.000(P),0.72(T),0.0000(T),0.193,2.865878,5.25,3.37,0.563000,1.415000,1.301000,0.057000,0.084000,0.602000,10.8865
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Gly1433Gly/c.4299G>A,ggG/ggA,LOW,COSM3756169(1),0.329872,0.2391,rs3809981,,,,,,chr18,56203120,56203120,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1433Gly/c.4299G>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:Yy1,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:EBF,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,,,0.3395,0.3847,0.5308,0.41,0.26,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Pro1336Pro/c.4008C>G,ccC/ccG,LOW,,0.671526,0.7966,rs3809980,,,,,,chr18,56203411,56203411,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1336Pro/c.4008C>G|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2",,,,0.7168,0.6772,0.7674,0.68,0.52,0.77,,,,,,,,,,,,,,,,
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.His1324His/c.3972T>C,caT/caC,LOW,,0.671725,0.7966,rs3809979,,,,,,chr18,56203447,56203447,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His1324His/c.3972T>C|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"GM12878:H3K4me3,GM12878:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2",,,,0.7168,0.6772,0.7674,0.68,0.52,0.77,,,,,,,,,,,,,,,,
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Pro1176Pro/c.3528C>A,ccC/ccA,LOW,,0.671725,0.7966,rs3809978,,,,,,chr18,56203891,56203891,G,T,hom,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1176Pro/c.3528C>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:POU2F2,GM06990:H3K4me3,GM12878:SP1,IMR90:H3K36me3,GM12878:IRF4,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:Nrsf,GM12878:Rad21,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:PU1,K562:SP1,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12,K562:DNase1",,,,0.7168,0.6772,0.7674,0.68,0.52,0.77,,,,,,,,,,,,,,,,
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.His1174Pro/c.3521A>C,cAc/cCc,MODERATE,,0.671725,0.7966,rs3809977,0.14(T),"0.906,0.4(P,B)",1.32(L),-0.8910(T),,chr18,56203898,56203898,T,G,hom,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His1174Pro/c.3521A>C|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:POU2F2,GM06990:H3K4me3,GM12878:SP1,IMR90:H3K36me3,GM12878:IRF4,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:Nrsf,GM12878:Rad21,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM12878:PU1,K562:SP1,GM12878:H3K4me2,GM06990:DNase1,GM12878:Tcf12,K562:DNase1",,,,0.7168,0.6772,0.7674,0.68,0.52,0.77,,0.258088(N),1.000(P),0.88(T),0.0000(T),0.183,3.030988,5.51,-1.63,0.496000,-0.171000,-0.327000,0.023000,0.000000,0.000000,1.0429
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Leu1057Val/c.3169T>G,Ttg/Gtg,MODERATE,,0.672125,0.7976,rs3809976,1(T),"0.26,0.08(B,B)",1.59(L),-0.8435(T),,chr18,56204250,56204250,A,C,hom,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu1057Val/c.3169T>G|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM12878:POU2F2,GM06990:H3K4me3,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.7168,0.6772,0.7674,0.68,0.52,0.77,,0.000005(N),1.000(P),0.94(T),0.0000(T),0.027,2.142712,5.46,-3.32,-0.353000,-0.500000,-0.229000,0.001000,0.000000,0.000000,5.3655
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Arg1003Arg/c.3009G>A,agG/agA,LOW,COSM1389315(2),0.404353,0.2371,rs55910046,,,,,,chr18,56204410,56204410,C,T,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg1003Arg/c.3009G>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3497,0.4294,0.5736,0.43,0.39,0.46,,,,,,,,,,,,,,,,
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Asn916Lys/c.2748T>A,aaT/aaA,MODERATE,COSM3756172(1),0.404153,0.2361,rs4940404,0.06(T),"0.381,0.197(B,B)",1.7(L),-0.9057(T),,chr18,56204671,56204671,A,T,hom,missense_variant(MODERATE|MISSENSE|aaT/aaA|p.Asn916Lys/c.2748T>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3497,0.4294,0.5726,0.51,0.45,0.53,,0.290234(N),1.000(P),0.58(T),0.0000(T),0.013,3.314820,5.57,2.8,0.482000,0.915000,-0.367000,0.023000,0.051000,0.000000,5.5695
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Thr891Ile/c.2672C>T,aCc/aTc,MODERATE,COSM4131036(1),0.798522,0.8363,rs3826593,0.26(T),"0.0,0.0(B,B)",-0.895(N),-0.9759(T),,chr18,56204747,56204747,G,A,hom,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr891Ile/c.2672C>T|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.8671,0.7767,0.9215,0.84,0.68,0.93,,0.156341(N),1.000(P),0.97(T),0.0000(T),0.014,-0.520336,5.57,-4.01,-0.374000,-0.550000,-0.595000,0.026000,0.000000,0.000000,1.8997
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Lys829Asn/c.2487A>C,aaA/aaC,MODERATE,COSM3756173(1),0.404353,0.2361,rs3809973,0.06(T),"0.891,0.524(P,P)",1.7(L),-0.9397(T),,chr18,56204932,56204932,T,G,hom,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys829Asn/c.2487A>C|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3497,0.4294,0.5726,0.51,0.45,0.53,,0.705000(N),1.000(P),0.73(T),0.0000(T),0.02,2.163361,5.57,4.36,0.482000,2.126000,1.866000,0.039000,0.362000,0.831000,10.1922
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Arg825Thr/c.2474G>C,aGa/aCa,MODERATE,COSM3756174(1),0.404153,0.2361,rs3809972,0.4(T),"0.0,0.0(B,B)",-0.345(N),-0.9273(T),,chr18,56204945,56204945,C,G,hom,missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg825Thr/c.2474G>C|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3497,0.4294,0.5726,0.51,0.45,0.53,,0.415427(N),1.000(P),1.11(T),0.0000(T),0.029,-0.694484,5.57,1.3,-0.901000,0.072000,-0.435000,0.001000,0.000000,0.000000,5.5085
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Thr814Thr/c.2442G>A,acG/acA,LOW,COSM3756175(1),0.404153,0.2361,rs3809971,,,,,,chr18,56204977,56204977,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr814Thr/c.2442G>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3497,0.4294,0.5726,0.51,0.45,0.53,,,,,,,,,,,,,,,,
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Gly810Ser/c.2428G>A,Ggt/Agt,MODERATE,COSM3756176(1),0.403554,0.2361,rs3809970,0.15(T),"0.534,0.092(P,B)",1.59(L),-0.9489(T),,chr18,56204991,56204991,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly810Ser/c.2428G>A|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3497,0.4265,0.5716,0.51,0.45,0.53,,0.171067(N),1.000(P),0.64(T),0.0000(T),0.037,2.012911,5.39,1.65,0.591000,0.021000,0.230000,0.017000,0.040000,0.000000,2.4506
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.His719Gln/c.2157T>G,caT/caG,MODERATE,COSM3756177(2),0.404353,0.2361,rs12103986,1(T),"0.001,0.0(B,B)",-0.55(N),-0.9596(T),,chr18,56205262,56205262,A,C,hom,missense_variant(MODERATE|MISSENSE|caT/caG|p.His719Gln/c.2157T>G|2170|ALPK2|protein_coding|CODING|NM_052947.3|5|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,GM12878:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM12878:H3K9ac,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3497,0.4294,0.5736,0.51,0.45,0.53,,0.940021(N),1.000(P),1.07(T),0.0000(T),0.03,-0.931153,5.64,-5.12,-2.084000,-1.351000,-1.093000,0.004000,0.000000,0.000000,10.1225
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Gly522Gly/c.1566A>G,ggA/ggG,LOW,,0.373403,0.6022,rs12606191,,,,,,chr18,56246442,56246442,T,C,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly522Gly/c.1566A>G|2170|ALPK2|protein_coding|CODING|NM_052947.3|4|1),"HepG2:H3K4me2,IMR90:H2BK120ac,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K4me3,HSMM:H3K27ac,IMR90:H3K14ac,HSMM:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,IMR90:H3K4me2,IMR90:DNase1,IMR90:H2BK12ac,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K27ac,HepG2:H3K4me3,IMR90:H4K91ac,HepG2:H3K9ac,IMR90:H3K18ac,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,IMR90:H3K4me3,IMR90:H4K8ac",,,,0.4663,0.3991,0.3539,0.30,0.18,0.35,,,,,,,,,,,,,,,,
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Leu276Leu/c.828A>G,ctA/ctG,LOW,COSM3756178(1),0.510184,0.6022,rs9958735,,,,,,chr18,56247180,56247180,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu276Leu/c.828A>G|2170|ALPK2|protein_coding|CODING|NM_052947.3|4|1),"IMR90:H2BK120ac,HUVEC:H3K27me3,HSMM:H3K27ac,HSMM:H3K4me2,IMR90:H3K56ac,IMR90:H4K5ac,IMR90:H3K4me2,IMR90:DNase1,IMR90:H2BK12ac,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K27ac,HepG2:HNF4A,IMR90:H4K91ac,IMR90:H3K18ac,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,IMR90:H4K8ac",,,,0.5532,0.4856,0.5,0.48,0.44,0.50,,,,,,,,,,,,,,,,
synonymous_variant,ALPK2,SILENT,NM_052947.3:p.Tyr147Tyr/c.441T>C,taT/taC,LOW,COSM3756179(1),0.482827,0.6022,rs9956630,,,,,,chr18,56247567,56247567,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr147Tyr/c.441T>C|2170|ALPK2|protein_coding|CODING|NM_052947.3|4|1),"NH-A:H3K4me1,IMR90:H2BK120ac,HUVEC:H3K27me3,HSMM:H3K27ac,IMR90:H2BK12ac,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K27ac,IMR90:H4K91ac,IMR90:H3K18ac,HepG2:H3K27me3",,,,0.5532,0.4755,0.5,0.45,0.36,0.50,,,,,,,,,,,,,,,,
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Arg136Ser/c.408G>T,agG/agT,MODERATE,COSM3756180(1),0.482827,0.6022,rs9944810,0.5(T),0.0(B),-0.345(N),-0.9434(T),,chr18,56247600,56247600,C,A,het,missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg136Ser/c.408G>T|2170|ALPK2|protein_coding|CODING|NM_052947.3|4|1),"NH-A:H3K4me1,IMR90:H2BK120ac,HUVEC:H3K27me3,HSMM:H3K27ac,IMR90:H2BK12ac,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K27ac,IMR90:H4K91ac,IMR90:H3K18ac,HepG2:H3K27me3",,,,0.5532,0.4755,0.5,0.45,0.35,0.50,,,1.000(P),1.1(T),0.0000(T),0.031,-0.704751,5.65,-6.19,-0.520000,-1.702000,-0.613000,0.002000,0.000000,0.000000,3.3774
missense_variant,ALPK2,MISSENSE,NM_052947.3:p.Lys2Thr/c.5A>C,aAa/aCa,MODERATE,,0.940695,1,rs6566987,1(T),0.0(B),-0.55(N),-0.9561(T),,chr18,56279025,56279025,T,G,hom,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys2Thr/c.5A>C|2170|ALPK2|protein_coding|CODING|NM_052947.3|2|1),"NHEK:H3K27ac,HUVEC:H3K27me3,NHEK:H3K4me1,H1ESC:DNase1,HSMM:DNase1,NH-A:DNase1,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.9673,0.9078,0.8231,0.84,0.95,0.79,,,1.000(P),1.2(T),0.0000(T),0.027,-0.864298,5.68,3.9,-0.121000,0.361000,1.184000,0.600000,0.185000,0.101000,6.293
missense_variant,GRP,MISSENSE,NM_002091.3:p.Arg4Ser/c.10C>A,Cgt/Agt,MODERATE,COSM3749440(13),0.708866,0.744,rs1062557,0.77(T),"0.016,0.007,0.009(B,B,B)",0.895(L),-0.9870(T),,chr18,56887507,56887507,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg4Ser/c.10C>A|141|GRP|protein_coding|CODING|NM_001012512.1|1|1),missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg4Ser/c.10C>A|138|GRP|protein_coding|CODING|NM_001012513.1|1|1),missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg4Ser/c.10C>A|148|GRP|protein_coding|CODING|NM_002091.3|1|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6503,0.5648,0.7286,0.81,0.85,0.80,,0.658675(N),1.000(P),"1.56,1.62,1.56(T,T,T)",0.0000(T),0.077,-0.845744,3.91,-0.431,0.549000,0.010000,0.151000,0.273000,0.698000,0.010000,7.5347
missense_variant,LMAN1,MISSENSE,NM_005570.3:p.Met410Leu/c.1228A>T,Atg/Ttg,MODERATE,COSM4000432(1),0.0850639,0.0893,rs2298711,0.44(T),0.0(B),1.265(L),-1.0588(T),,chr18,57000469,57000469,T,A,het,missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met410Leu/c.1228A>T|510|LMAN1|protein_coding|CODING|NM_005570.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0685,0.1599,0.1421,0.10,0.03,0.14,,0.000066(N),0.782(P),0.65(T),0.0002(T),0.049,1.116648,5.87,-1.14,-0.250000,-0.405000,1.670000,0.049000,0.984000,1.000000,4.3905
missense_variant,MC4R,MISSENSE,NM_005912.2:p.Ile251Leu/c.751A>C,Att/Ctt,MODERATE,,0.00259585,0,rs52820871,1(T),0.005(B),-2.36(N),-0.9027(T),,chr18,58038832,58038832,T,G,het,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile251Leu/c.751A>C|332|MC4R|protein_coding|CODING|NM_005912.2|1|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,0.001,0.0043,0.0089,0.01,0.00,0.01,,0.000002(D),1.000(D),-0.4(T),0.0372(T),0.104,0.282198,5.85,5.85,0.533000,2.238000,6.670000,0.958000,0.995000,1.000000,10.2699
synonymous_variant,CDH20,SILENT,NM_031891.2:p.Asp123Asp/c.369C>T,gaC/gaT,LOW,,0.622204,0.5417,rs12964819,,,,,,chr18,59166541,59166541,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp123Asp/c.369C>T|801|CDH20|protein_coding|CODING|NM_031891.2|2|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.728,0.5576,0.6531,0.66,0.64,0.67,,,,,,,,,,,,,,,,
synonymous_variant,CDH20,SILENT,NM_031891.2:p.Val260Val/c.780C>G,gtC/gtG,LOW,,0.995807,1,rs595093,,,,,,chr18,59170304,59170304,C,G,hom,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val260Val/c.780C>G|801|CDH20|protein_coding|CODING|NM_031891.2|4|1),,,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,PIGN,MISSENSE,NM_012327.5:p.Ile470Leu/c.1408A>T,Ata/Tta,MODERATE,COSM3756184(2),0.0932508,0.1349,rs3862712,0.52(T),0.002(B),0.69(N),-1.0620(T),,chr18,59780393,59780393,T,A,het,"missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile470Leu/c.1408A>T|931|PIGN|protein_coding|CODING|NM_012327.5|15|1),missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile470Leu/c.1408A>T|931|PIGN|protein_coding|CODING|NM_176787.4|16|1)",,,,,0.182,0.0476,0.0934,0.09,0.03,0.11,,0.652890(N),1.000(P),"0.57,0.57(T,T)",0.0011(T),0.031,2.229944,5.29,-3.43,0.368000,-0.488000,0.457000,0.784000,0.000000,0.001000,8.2385
splice_acceptor_variant,PIGN,protein_coding,NM_012327.5:c.1117A>G,,HIGH,,1,1,rs9959632,,,,,PIGN:1.00(2);,chr18,59805532,59805532,T,C,hom,"splice_acceptor_variant(HIGH|||c.1117A>G|931|PIGN|protein_coding|CODING|NM_012327.5|13|1),splice_acceptor_variant(HIGH|||c.1117A>G|931|PIGN|protein_coding|CODING|NM_176787.4|14|1),intron_variant(MODIFIER|||c.1117-1A>G|931|PIGN|protein_coding|CODING|NM_012327.5|12|1),intron_variant(MODIFIER|||c.1117-1A>G|931|PIGN|protein_coding|CODING|NM_176787.4|13|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,0.000(P),,,.,3.668853,5.34,5.34,-0.186000,1.256000,4.125000,0.740000,1.000000,1.000000,11.4935
missense_variant,PIGN,MISSENSE,NM_012327.5:p.His229Asp/c.685C>G,Cac/Gac,MODERATE,,0.847244,0.9345,rs9320001,,0.0(B),-0.99(N),-0.9798(T),,chr18,59814324,59814324,G,C,hom,"missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His229Asp/c.685C>G|931|PIGN|protein_coding|CODING|NM_012327.5|8|1),missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His229Asp/c.685C>G|931|PIGN|protein_coding|CODING|NM_176787.4|9|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8538,0.7896,0.7435,0.79,0.88,0.75,,0.000642(N),1.000(P),"-0.36,-0.36(T,T)",0.0000(T),0.029,-1.629729,5.5,3.71,-0.187000,0.385000,1.765000,0.263000,0.887000,0.997000,7.5845
missense_variant,TNFRSF11A,MISSENSE,NM_003839.3:p.Ala192Val/c.575C>T,gCg/gTg,MODERATE,,0.594249,0.6835,rs1805034,,"0.006,0.006(B,B)",-0.415(N),-0.9336(T),,chr18,60027241,60027241,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala192Val/c.575C>T|263|TNFRSF11A|protein_coding|CODING|NM_001270949.1|6|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala192Val/c.575C>T|337|TNFRSF11A|protein_coding|CODING|NM_001270950.1|6|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala192Val/c.575C>T|299|TNFRSF11A|protein_coding|CODING|NM_001270951.1|6|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala178Val/c.533C>T|602|TNFRSF11A|protein_coding|CODING|NM_001278268.1|6|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala192Val/c.575C>T|616|TNFRSF11A|protein_coding|CODING|NM_003839.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4233,0.647,0.5288,0.55,0.63,0.51,,0.211059(N),1.000(P),-0.37(T),0.0000(T),0.032,-0.530032,4.99,2.62,-0.260000,0.146000,0.658000,0.625000,1.000000,1.000000,7.3037
synonymous_variant,TNFRSF11A,SILENT,NM_003839.3:p.Thr311Thr/c.933A>G,acA/acG,LOW,,0.980831,1,rs8092336,,,,,,chr18,60036083,60036083,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr297Thr/c.891A>G|602|TNFRSF11A|protein_coding|CODING|NM_001278268.1|9|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr311Thr/c.933A>G|616|TNFRSF11A|protein_coding|CODING|NM_003839.3|9|1),intron_variant(MODIFIER|||c.616+8801A>G|299|TNFRSF11A|protein_coding|CODING|NM_001270951.1|6|1),intron_variant(MODIFIER|||c.730+7057A>G|337|TNFRSF11A|protein_coding|CODING|NM_001270950.1|7|1),intron_variant(MODIFIER|||c.783+2090A>G|263|TNFRSF11A|protein_coding|CODING|NM_001270949.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9642,0.9885,0.9513,0.95,0.99,0.94,,,,,,,,,,,,,,,,
synonymous_variant,ZCCHC2,SILENT,NM_017742.4:p.Glu257Glu/c.771G>A,gaG/gaA,LOW,COSM4131046(2),0.707668,0.7907,rs7229802,,,,,,chr18,60191428,60191428,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu257Glu/c.771G>A|1178|ZCCHC2|protein_coding|CODING|NM_017742.4|1|1),"NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7076,0.6787,0.7594,0.74,0.69,0.77,,,,,,,,,,,,,,,,
synonymous_variant,ZCCHC2,SILENT,NM_017742.4:p.Gly578Gly/c.1734A>G,ggA/ggG,LOW,COSM3756190(1),0.0826677,0.001,rs12956093,,,,,,chr18,60231851,60231851,A,G,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly578Gly/c.1734A>G|1178|ZCCHC2|protein_coding|CODING|NM_017742.4|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0389,0.1816,0.2386,0.14,0.04,0.18,,,,,,,,,,,,,,,,
synonymous_variant,PHLPP1,SILENT,NM_194449.3:p.Pro707Pro/c.2121A>T,ccA/ccT,LOW,,0.486222,0.3621,rs624821,,,,,,chr18,60562298,60562298,A,T,hom,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro707Pro/c.2121A>T|1717|PHLPP1|protein_coding|CODING|NM_194449.3|5|1),"HMEC:H3K36me3,HepG2:H3K36me3",,,,0.4284,0.5389,0.5815,0.59,0.53,0.62,,,,,,,,,,,,,,,,
missense_variant,PHLPP1,MISSENSE,NM_194449.3:p.Met759Ile/c.2277G>A,atG/atA,MODERATE,,,,,0.04(D),0.226(B),1.075(L),-0.8859(T),,chr18,60563077,60563077,G,A,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met759Ile/c.2277G>A|1717|PHLPP1|protein_coding|CODING|NM_194449.3|6|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,0.996(D),"0.35,0.35(T,T)",0.1309(T),0.365,3.125230,4.98,4.98,0.591000,2.608000,3.497000,0.964000,1.000000,1.000000,14.8968
synonymous_variant,KDSR,SILENT,NM_002035.2:p.Val87Val/c.261G>A,gtG/gtA,LOW,COSM148435(1),0.556909,0.4335,rs2003149,,,,,,chr18,61022791,61022791,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val87Val/c.261G>A|332|KDSR|protein_coding|CODING|NM_002035.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6759,0.6628,0.6481,0.60,0.49,0.66,,,,,,,,,,,,,,,,
synonymous_variant,SERPINB5,SILENT,NM_002639.4:p.Pro111Pro/c.333G>C,ccG/ccC,LOW,COSM4000439(2),0.714457,0.621,rs12454742,,,,,,chr18,61156606,61156606,G,C,het,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro111Pro/c.333G>C|375|SERPINB5|protein_coding|CODING|NM_002639.4|4|1),"HUVEC:H3K27me3,NHEK:PolII,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HeLa-S3:H3K36me3,HMEC:DNase1,NHEK:DNase1",,,,0.6933,0.6167,0.6889,0.74,0.84,0.69,,,,,,,,,,,,,,,,
missense_variant,SERPINB5,MISSENSE,NM_002639.4:p.Ser176Pro/c.526T>C,Tct/Cct,MODERATE,COSM4000442(2),0.715455,0.622,rs2289519,0.38(T),"0.0,0.0(B,B)",-0.52(N),-0.9437(T),,chr18,61160287,61160287,T,C,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser176Pro/c.526T>C|375|SERPINB5|protein_coding|CODING|NM_002639.4|5|1),"NHEK:PolII,HMEC:H3K36me3,HSMM:DNase1,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.6943,0.6182,0.6909,0.74,0.84,0.69,,0.000206(N),1.000(P),-1.89(D),0.0000(T),0.083,1.652170,6.05,6.05,-0.119000,1.592000,2.041000,0.988000,1.000000,1.000000,10.0943
synonymous_variant,SERPINB5,SILENT,NM_002639.4:p.Ser298Ser/c.894T>C,agT/agC,LOW,,0.525759,0.5972,rs1455556,,,,,,chr18,61170721,61170721,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser298Ser/c.894T>C|375|SERPINB5|protein_coding|CODING|NM_002639.4|7|1),"HUVEC:H3K27me3,NHEK:PolII,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.4714,0.6037,0.6978,0.59,0.39,0.69,,,,,,,,,,,,,,,,
missense_variant,SERPINB5,MISSENSE,NM_002639.4:p.Ile319Val/c.955A>G,Atc/Gtc,MODERATE,COSM3756195(1),0.364816,0.4871,rs1455555,1(T),0.002(B),0.565(N),-1.0152(T),,chr18,61170782,61170782,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile319Val/c.955A>G|375|SERPINB5|protein_coding|CODING|NM_002639.4|7|1),"HUVEC:H3K27me3,NHEK:PolII,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.3415,0.4092,0.4662,0.40,0.23,0.49,,0.002601(N),0.002(P),-1.68(D),0.0000(T),0.044,-0.828305,5.95,0.527,-0.290000,0.088000,1.402000,0.819000,0.446000,0.957000,9.8568
synonymous_variant,SERPINB5,SILENT,NM_002639.4:p.Ile366Ile/c.1098T>C,atT/atC,LOW,,0.999401,1,rs8093128,,,,,,chr18,61170925,61170925,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile366Ile/c.1098T>C|375|SERPINB5|protein_coding|CODING|NM_002639.4|7|1),"HUVEC:H3K27me3,NHEK:PolII,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,1,0.9986,0.998,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SERPINB13,SILENT,NM_012397.3:p.Asn240Asn/c.720C>T,aaC/aaT,LOW,,0.0457268,0.0804,rs17071357,,,,,,chr18,61262367,61262367,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn240Asn/c.720C>T|391|SERPINB13|protein_coding|CODING|NM_012397.3|7|1),NHEK:H3K36me3,,,,0.0378,0.0922,0.0427,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,SERPINB13,MISSENSE,NM_012397.3:p.Gly293Ser/c.877G>A,Ggt/Agt,MODERATE,,0.860224,0.875,rs1020694,1(T),"0.001,0.001(B,B)",-1.19(N),-0.9566(T),,chr18,61264298,61264298,G,A,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly293Ser/c.877G>A|391|SERPINB13|protein_coding|CODING|NM_012397.3|8|1),NHEK:H3K36me3,,,,0.819,0.7925,0.8072,0.84,0.93,0.79,,0.480501(N),1.000(P),"-1.6,-1.6(D,D)",0.0000(T),0.011,-0.589537,5.3,2.85,-1.585000,0.022000,1.672000,0.017000,0.000000,0.001000,4.7982
synonymous_variant,SERPINB13,SILENT,NM_012397.3:p.Thr349Thr/c.1047C>T,acC/acT,LOW,,0.78754,0.875,rs1020693,,,,,,chr18,61264468,61264468,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr349Thr/c.1047C>T|391|SERPINB13|protein_coding|CODING|NM_012397.3|8|1),NHEK:H3K36me3,,,,0.818,0.7752,0.8042,0.77,0.73,0.79,,,,,,,,,,,,,,,,
missense_variant,SERPINB11,MISSENSE,NM_080475.3:p.Glu51Ala/c.152A>C,gAa/gCa,MODERATE,COSM4154002(1),0.832867,0.9008,rs1395268,1(T),0.0(B),,-0.9373(T),,chr18,61377579,61377579,A,C,hom,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu51Ala/c.152A>C|305|SERPINB11|protein_coding|CODING|NM_001291278.1|2|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu51Ala/c.152A>C|392|SERPINB11|protein_coding|CODING|NM_080475.3|3|1),5_prime_UTR_variant(MODIFIER||9718|c.-256A>C|217|SERPINB11|protein_coding|CODING|NM_001291279.1|2|1)",,,,,0.8078,0.8602,0.8111,0.82,0.80,0.83,,0.000125(N),0.000(P),"-1.73,-1.73(D,D)",0.0000(T),0.086,-1.841158,5.14,4.25,-0.121000,0.640000,1.329000,0.038000,0.015000,0.792000,10.2865
stop_lost,SERPINB11,MISSENSE,NM_080475.3:p.Ter90Gluext*?/c.268T>G,Taa/Gaa,HIGH,,,,rs4940595,,,,,,chr18,61379838,61379838,T,G,het,"stop_lost(HIGH|MISSENSE|Taa/Gaa|p.Ter90Gluext*?/c.268T>G|305|SERPINB11|protein_coding|CODING|NM_001291278.1|4|1),stop_lost(HIGH|MISSENSE|Taa/Gaa|p.Ter90Gluext*?/c.268T>G|392|SERPINB11|protein_coding|CODING|NM_080475.3|5|1),5_prime_UTR_variant(MODIFIER||7459|c.-140T>G|217|SERPINB11|protein_coding|CODING|NM_001291279.1|4|1)",,,,,,,,0.34,0.49,0.27,,,1.000(P),,,.,-2.262873,5.3,-4.56,-1.039000,-1.444000,-0.592000,0.030000,0.000000,0.000000,7.9391
missense_variant,SERPINB11,MISSENSE,NM_080475.3:p.Thr148Met/c.443C>T,aCg/aTg,MODERATE,,0.139976,0.2014,rs17071550,0.13(T),0.026(B),,-1.0871(T),,chr18,61383354,61383354,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr148Met/c.443C>T|392|SERPINB11|protein_coding|CODING|NM_080475.3|6|1),intron_variant(MODIFIER|||c.-51+3427C>T|217|SERPINB11|protein_coding|CODING|NM_001291279.1|4|1),intron_variant(MODIFIER|||c.357+3427C>T|305|SERPINB11|protein_coding|CODING|NM_001291278.1|4|1)",,,,,0.1534,0.1614,0.17,0.14,0.06,0.17,,,1.000(P),-1.88(D),0.0002(T),0.121,1.146660,4.65,0.119,0.650000,0.325000,-0.675000,0.413000,0.156000,0.000000,1.1413
missense_variant,SERPINB11,MISSENSE,NM_080475.3:p.Ala181Thr/c.541G>A,Gcc/Acc,MODERATE,,0.451078,0.627,rs1506418,0.08(T),"0.83,0.808(P,P)",-1.04(N),-0.9501(T),,chr18,61387312,61387312,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala6Thr/c.16G>A|217|SERPINB11|protein_coding|CODING|NM_001291279.1|5|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala181Thr/c.541G>A|392|SERPINB11|protein_coding|CODING|NM_080475.3|7|1),intron_variant(MODIFIER|||c.358-753G>A|305|SERPINB11|protein_coding|CODING|NM_001291278.1|4|1)",,,,,0.365,0.4366,0.2773,0.34,0.49,0.27,,,0.000(P),"-1.98,-1.98(D,D)",0.0000(T),0.412,4.428528,5.5,5.5,0.563000,2.736000,7.506000,0.809000,1.000000,1.000000,15.1839
missense_variant,SERPINB11,MISSENSE,NM_080475.3:p.Trp188Arg/c.562T>A,Tgg/Agg,MODERATE,,0.450879,0.627,rs1506419,0.01(D),"0.999,0.999(D,D)",,-1.0593(T),,chr18,61387333,61387333,T,A,het,"missense_variant(MODERATE|MISSENSE|Tgg/Agg|p.Trp13Arg/c.37T>A|217|SERPINB11|protein_coding|CODING|NM_001291279.1|5|1),missense_variant(MODERATE|MISSENSE|Tgg/Agg|p.Trp188Arg/c.562T>A|392|SERPINB11|protein_coding|CODING|NM_080475.3|7|1),intron_variant(MODIFIER|||c.358-732T>A|305|SERPINB11|protein_coding|CODING|NM_001291278.1|4|1)",,,,,0.365,0.4352,0.2773,0.34,0.50,0.27,,,0.000(P),"-3.5,-3.5(D,D)",0.0000(T),0.418,4.531880,5.62,5.62,0.533000,2.263000,5.890000,0.994000,1.000000,1.000000,14.9511
synonymous_variant,SERPINB11,SILENT,NM_080475.3:p.Arg288Arg/c.862C>A,Cga/Aga,LOW,,0.722444,0.8512,rs1395265,,,,,,chr18,61390316,61390316,C,A,hom,"synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg201Arg/c.601C>A|305|SERPINB11|protein_coding|CODING|NM_001291278.1|6|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg113Arg/c.337C>A|217|SERPINB11|protein_coding|CODING|NM_001291279.1|7|1),synonymous_variant(LOW|SILENT|Cga/Aga|p.Arg288Arg/c.862C>A|392|SERPINB11|protein_coding|CODING|NM_080475.3|9|1)",NHEK:H3K27me3,,,,0.6881,0.7277,0.7416,0.70,0.65,0.72,,,,,,,,,,,,,,,,
missense_variant,SERPINB11,MISSENSE,NM_080475.3:p.Thr293Ile/c.878C>T,aCt/aTt,MODERATE,COSM4131061(1),0.722444,0.8512,rs1395266,0.1(T),"0.0,0.0,0.0(B,B,B)",,-0.9764(T),,chr18,61390332,61390332,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr206Ile/c.617C>T|305|SERPINB11|protein_coding|CODING|NM_001291278.1|6|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr118Ile/c.353C>T|217|SERPINB11|protein_coding|CODING|NM_001291279.1|7|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr293Ile/c.878C>T|392|SERPINB11|protein_coding|CODING|NM_080475.3|9|1)",NHEK:H3K27me3,,,,0.6881,0.7277,0.7416,0.70,0.65,0.72,,0.250940(N),1.000(P),"-1.87,-1.87,-1.87(D,D,D)",0.0000(T),0.072,-0.532379,5.05,-0.96,-1.216000,-0.261000,1.730000,0.000000,0.000000,0.004000,7.5713
missense_variant,SERPINB11,MISSENSE,NM_080475.3:p.Ser303Pro/c.907T>C,Tct/Cct,MODERATE,,0.754792,0.8819,rs1395267,0.13(T),"0.466,0.563(P,P)",,-0.9887(T),,chr18,61390361,61390361,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser216Pro/c.646T>C|305|SERPINB11|protein_coding|CODING|NM_001291278.1|6|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser128Pro/c.382T>C|217|SERPINB11|protein_coding|CODING|NM_001291279.1|7|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser303Pro/c.907T>C|392|SERPINB11|protein_coding|CODING|NM_080475.3|9|1)",NHEK:H3K27me3,,,,0.7065,0.732,0.7406,0.73,0.73,0.72,,0.002261(N),1.000(P),"-1.71,2.67,-1.71(D,T,D)",0.0000(T),0.153,0.743792,4.96,2.28,0.482000,0.794000,0.642000,0.325000,0.340000,0.000000,7.3604
synonymous_variant,SERPINB11,SILENT,NM_080475.3:p.Leu372Leu/c.1116T>G,ctT/ctG,LOW,,0.704273,0.8522,rs953695,,,,,,chr18,61390570,61390570,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu285Leu/c.855T>G|305|SERPINB11|protein_coding|CODING|NM_001291278.1|6|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu197Leu/c.591T>G|217|SERPINB11|protein_coding|CODING|NM_001291279.1|7|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu372Leu/c.1116T>G|392|SERPINB11|protein_coding|CODING|NM_080475.3|9|1)","HMEC:H3K27me3,NHEK:H3K27me3",,,,0.6984,0.7205,0.7416,0.68,0.60,0.72,,,,,,,,,,,,,,,,
missense_variant,SERPINB7,MISSENSE,NM_001040147.2:p.Arg266Gln/c.797G>A,cGa/cAa,MODERATE,COSM4000446(1),0.157947,0.1071,rs17782413,0.18(T),"0.091,0.147(B,B)",0.945(L),-1.1054(T),,chr18,61471523,61471523,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg266Gln/c.797G>A|380|SERPINB7|protein_coding|CODING|NM_001040147.2|8|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg266Gln/c.797G>A|380|SERPINB7|protein_coding|CODING|NM_001261830.1|8|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg249Gln/c.746G>A|363|SERPINB7|protein_coding|CODING|NM_001261831.1|7|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg266Gln/c.797G>A|380|SERPINB7|protein_coding|CODING|NM_003784.3|8|1)","HUVEC:H3K27me3,HMEC:H3K36me3,NHEK:H3K36me3",,,,0.1994,0.2277,0.2247,0.19,0.12,0.23,,0.053345(N),1.000(P),"-1.84,-1.84,-1.84,-1.84(D,D,D,D)",0.0002(T),0.049,2.343575,5.92,1.9,-0.302000,0.495000,-0.195000,0.866000,0.975000,0.000000,4.6409
missense_variant,SERPINB2,MISSENSE,NM_001143818.1:p.Asn120Asp/c.358A>G,Aat/Gat,MODERATE,COSM4000447(1),0.349042,0.499,rs386601533,,0.0(B),-0.965(N),-0.9745(T),,chr18,61564394,61564394,A,G,het,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn120Asp/c.358A>G|415|SERPINB2|protein_coding|CODING|NM_001143818.1|5|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn120Asp/c.358A>G|415|SERPINB2|protein_coding|CODING|NM_002575.2|4|1)","NHEK:PolII,NHEK:H3K36me3,NHEK:DNase1",,,,0.2894,0.3559,0.2296,0.27,0.37,0.22,,0.740770(N),1.000(P),"2.85,2.85,-1.53,-1.78(T,T,D,D)",0.0000(T),0.025,1.220485,5.93,4.13,-0.119000,0.865000,0.618000,0.697000,0.121000,0.000000,6.7175
synonymous_variant,SERPINB2,SILENT,NM_001143818.1:p.Pro393Pro/c.1179T>G,ccT/ccG,LOW,COSM148436(2),0.217851,0.254,rs111172408,,,,,,chr18,61570470,61570470,T,G,het,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro393Pro/c.1179T>G|415|SERPINB2|protein_coding|CODING|NM_001143818.1|9|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro393Pro/c.1179T>G|415|SERPINB2|protein_coding|CODING|NM_002575.2|8|1)","NHEK:PolII,NHEK:H3K36me3,NHEK:DNase1",,,,0.1963,0.2954,0.2058,0.20,0.20,0.20,,,,,,,,,,,,,,,,
missense_variant,SERPINB2,MISSENSE,NM_001143818.1:p.Asn404Lys/c.1212C>G,aaC/aaG,MODERATE,COSM4000448(1),0.349441,0.499,rs111172407,0.75(T),0.001(B),-0.12(N),-0.9603(T),,chr18,61570503,61570503,C,G,het,"missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn404Lys/c.1212C>G|415|SERPINB2|protein_coding|CODING|NM_001143818.1|9|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn404Lys/c.1212C>G|415|SERPINB2|protein_coding|CODING|NM_002575.2|8|1)","NHEK:PolII,NHEK:H3K36me3,NHEK:DNase1",,,,0.2894,0.3559,0.2296,0.27,0.37,0.22,,0.215262(N),1.000(P),"2.76,2.76(T,T)",0.0000(T),0.018,-1.839191,5.51,-2.38,-0.365000,-0.415000,-1.506000,0.049000,0.001000,0.000000,4.321
missense_variant,SERPINB2,MISSENSE,NM_001143818.1:p.Ser413Cys/c.1238C>G,tCc/tGc,MODERATE,COSM4000449(1),0.349042,0.499,rs6104,1(T),0.005(B),0.475(N),-1.0037(T),,chr18,61570529,61570529,C,G,het,"missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser413Cys/c.1238C>G|415|SERPINB2|protein_coding|CODING|NM_001143818.1|9|1),missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser413Cys/c.1238C>G|415|SERPINB2|protein_coding|CODING|NM_002575.2|8|1)","NHEK:PolII,NHEK:H3K36me3,NHEK:DNase1",,,,0.2883,0.3559,0.2296,0.27,0.37,0.22,,0.007849(N),0.000(P),"-1.87,-1.87(D,D)",0.0000(T),0.034,-0.386200,5.51,1.29,0.460000,0.381000,0.425000,0.051000,0.250000,0.029000,1.5526
missense_variant,SERPINB10,MISSENSE,NM_005024.1:p.Ser3Ala/c.7T>G,Tct/Gct,MODERATE,COSM148437(3),0.279952,0.248,rs17072097,,,1.26(L),-1.0258(T),,chr18,61582751,61582751,T,G,het,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser3Ala/c.7T>G|397|SERPINB10|protein_coding|CODING|NM_005024.1|1|1),HUVEC:H3K27me3,,,,0.1933,0.3127,0.1998,0.26,0.39,0.19,,,1.000(P),,0.0000(T),.,-2.159978,5.97,0.577,-4.888000,-0.300000,-0.156000,0.001000,0.000000,0.000000,1.6638
missense_variant,SERPINB10,MISSENSE,NM_005024.1:p.Ile41Met/c.123A>G,atA/atG,MODERATE,COSM4000450(1),0.472444,0.4623,rs8097425,1(T),0.0(B),-2.735(N),-0.9770(T),,chr18,61582867,61582867,A,G,het,missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile41Met/c.123A>G|397|SERPINB10|protein_coding|CODING|NM_005024.1|1|1),HUVEC:H3K27me3,,,,0.2843,0.3991,0.2247,0.39,0.74,0.20,,0.000000(N),1.000(P),-1.6(D),0.0000(T),0.08,-0.853253,5.85,5.85,-0.128000,1.498000,4.155000,0.170000,1.000000,1.000000,13.9957
missense_variant,SERPINB10,MISSENSE,NM_005024.1:p.Ile99Thr/c.296T>C,aTc/aCc,MODERATE,COSM148438(2),0.247804,0.25,rs724558,0.05(D),0.998(D),2.27(M),-1.3326(T),,chr18,61585260,61585260,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile99Thr/c.296T>C|397|SERPINB10|protein_coding|CODING|NM_005024.1|3|1),"HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.1933,0.2954,0.1968,0.23,0.31,0.19,,0.000017(D),0.030(P),-1.97(D),0.0001(T),0.285,3.150615,5.82,5.82,0.528000,2.231000,4.786000,0.404000,0.904000,1.000000,14.1425
missense_variant,SERPINB10,MISSENSE,NM_005024.1:p.Pro140Ser/c.418C>T,Cct/Tct,MODERATE,COSM4000451(1),0.450879,0.4623,rs386626274,0.69(T),0.0(B),-1.615(N),-0.9311(T),,chr18,61587067,61587067,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro140Ser/c.418C>T|397|SERPINB10|protein_coding|CODING|NM_005024.1|4|1),"HUVEC:H3K27me3,HMEC:H3K27me3",,,,0.2832,0.3963,0.2247,0.37,0.68,0.20,,0.018475(N),1.000(P),-1.77(D),0.0000(T),0.101,0.572494,5.33,2.88,-0.254000,0.029000,0.684000,0.982000,0.948000,1.000000,4.5016
missense_variant,SERPINB10,MISSENSE,NM_005024.1:p.Arg246Cys/c.736C>T,Cgt/Tgt,MODERATE,COSM1389512(3),0.472644,0.4623,rs386623899,0.07(T),0.013(B),2.43(M),-0.9501(T),,chr18,61600384,61600384,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg246Cys/c.736C>T|397|SERPINB10|protein_coding|CODING|NM_005024.1|6|1),,,,,0.2986,0.4193,0.2942,0.41,0.70,0.26,,0.359069(N),1.000(P),-1.7(D),0.0000(T),0.107,0.508440,5.95,0.68,0.655000,0.380000,-0.160000,0.041000,0.018000,0.000000,1.2349
missense_variant,SERPINB8,MISSENSE,NM_002640.3:p.Arg68Gln/c.203G>A,cGa/cAa,MODERATE,COSM4000452(1),0.325879,0.1944,rs1944270,,,-0.575(N),-1.0153(T),,chr18,61647069,61647069,G,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg68Gln/c.203G>A|242|SERPINB8|protein_coding|CODING|NM_001031848.1|3|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg68Gln/c.203G>A|374|SERPINB8|protein_coding|CODING|NM_002640.3|3|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg68Gln/c.203G>A|374|SERPINB8|protein_coding|CODING|NM_198833.1|3|1),5_prime_UTR_variant(MODIFIER||3866|c.-344G>A|192|SERPINB8|protein_coding|CODING|NM_001276490.1|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,IMR90:H3K4me3",,,,0.1421,0.2262,0.2863,0.38,0.57,0.28,,,1.000(P),,0.0000(T),.,-1.263202,4.75,-5.63,-1.177000,-1.431000,-2.669000,0.030000,0.049000,0.000000,10.5421
missense_variant,SERPINB8,MISSENSE,NM_002640.3:p.His359Arg/c.1076A>G,cAc/cGc,MODERATE,,0.548522,0.5446,rs3826616,0(D),0.98(D),2.97(M),-0.8900(T),,chr18,61654463,61654463,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His177Arg/c.530A>G|192|SERPINB8|protein_coding|CODING|NM_001276490.1|6|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His359Arg/c.1076A>G|374|SERPINB8|protein_coding|CODING|NM_002640.3|7|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His359Arg/c.1076A>G|374|SERPINB8|protein_coding|CODING|NM_198833.1|7|1),downstream_gene_variant(MODIFIER||576||242|SERPINB8|protein_coding|CODING|NM_001031848.1||1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,H1ESC:Nrsf,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6994,0.6744,0.5427,0.53,0.43,0.58,,0.000000(D),0.000(P),"-1.67,-1.67,2.72(D,D,T)",0.0000(T),0.568,3.236928,5.65,5.65,0.533000,2.371000,9.044000,0.163000,0.130000,1.000000,15.2098
synonymous_variant,CDH7,SILENT,NM_004361.2:p.Val229Val/c.687C>T,gtC/gtT,LOW,,0.852835,0.9831,rs8097752,,,,,,chr18,63489378,63489378,C,T,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val229Val/c.687C>T|785|CDH7|protein_coding|CODING|NM_004361.2|5|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val229Val/c.687C>T|785|CDH7|protein_coding|CODING|NM_033646.1|5|1)",HeLa-S3:DNase1,,,,0.8497,0.9049,0.9612,0.86,0.67,0.96,,,,,,,,,,,,,,,,
synonymous_variant,CDH7,SILENT,NM_004361.2:p.Asp370Asp/c.1110T>C,gaT/gaC,LOW,COSM3756196(1),0.186102,0.0377,rs2306675,,,,,,chr18,63511176,63511176,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp370Asp/c.1110T>C|785|CDH7|protein_coding|CODING|NM_004361.2|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp370Asp/c.1110T>C|785|CDH7|protein_coding|CODING|NM_033646.1|7|1)",,,,,0.1922,0.2205,0.3489,0.29,0.19,0.34,,,,,,,,,,,,,,,,
missense_variant,CDH7,MISSENSE,NM_004361.2:p.Asn576Ser/c.1727A>G,aAc/aGc,MODERATE,,0.629593,0.9196,rs2291343,1(T),"0.016,0.027(B,B)",0.11(N),-0.9521(T),,chr18,63530016,63530016,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn576Ser/c.1727A>G|785|CDH7|protein_coding|CODING|NM_004361.2|11|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn576Ser/c.1727A>G|785|CDH7|protein_coding|CODING|NM_033646.1|11|1)",,,,,0.6401,0.7421,0.7087,0.59,0.35,0.71,,0.000000(D),0.000(P),"0.77,0.77,0.77(T,T,T)",0.0000(T),0.058,1.639132,5.37,5.37,0.482000,2.044000,3.177000,0.971000,1.000000,1.000000,15.3548
missense_variant,CDH19,MISSENSE,NM_021153.3:p.Gly645Ala/c.1934G>C,gGg/gCg,MODERATE,,0.00698882,0,rs55874520,0(D),0.993(D),3.235(M),0.4259(D),,chr18,64172434,64172434,C,G,het,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly645Ala/c.1934G>C|772|CDH19|protein_coding|CODING|NM_021153.3|12|1),3_prime_UTR_variant(MODIFIER||91|c.*91G>C|490|CDH19|protein_coding|CODING|NM_001271028.1|10|1),non_coding_exon_variant(MODIFIER|||n.2203G>C||CDH19||CODING|NR_073130.1|12|1)",,,,,0,0.0101,0.0258,0.02,0.01,0.03,,0.000000(D),1.000(D),-2.0(D),0.6076(D),0.218,3.917129,5.18,5.18,0.650000,2.564000,7.284000,0.423000,0.759000,1.000000,19.0693
missense_variant,DSEL,MISSENSE,NM_032160.2:p.Pro683Ser/c.2047C>T,Ccc/Tcc,MODERATE,,0.435503,0.498,rs2279269,1(T),0.0(B),-1.355(N),-0.9304(T),,chr18,65179829,65179829,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro683Ser/c.2047C>T|1222|DSEL|protein_coding|CODING|NM_032160.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.4162,0.4294,0.5686,0.45,0.32,0.52,,0.033200(N),1.000(P),2.45(T),0.0000(T),0.018,0.394297,5.4,2.92,-0.521000,0.905000,1.602000,0.671000,0.987000,0.888000,1.1721
synonymous_variant,CCDC102B,SILENT,NM_001093729.1:p.Ala31Ala/c.93A>C,gcA/gcC,LOW,,0.920927,1,rs485613,,,,,,chr18,66504093,66504093,A,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala31Ala/c.93A>C|513|CCDC102B|protein_coding|CODING|NM_001093729.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala31Ala/c.93A>C|513|CCDC102B|protein_coding|CODING|NM_024781.2|2|1)",,,,,1,0.9784,1,0.92,0.77,1.00,,,,,,,,,,,,,,,,
missense_variant,CCDC102B,MISSENSE,NM_001093729.1:p.Lys153Asn/c.459A>T,aaA/aaT,MODERATE,,0.920927,1,rs572020,0.18(T),"0.003,0.005(B,B)",1.245(L),-0.9447(T),,chr18,66504459,66504459,A,T,hom,"missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys153Asn/c.459A>T|513|CCDC102B|protein_coding|CODING|NM_001093729.1|4|1),missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys153Asn/c.459A>T|513|CCDC102B|protein_coding|CODING|NM_024781.2|2|1)",,,,,1,0.9784,1,0.93,0.77,1.00,,0.041757(N),1.000(P),"0.78,0.78,0.78(T,T,T)",0.0000(T),0.097,2.130303,4.67,-9.34,0.455000,-2.331000,-0.533000,0.428000,0.000000,0.000000,6.9339
missense_variant,CCDC102B,MISSENSE,NM_001093729.1:p.Lys298Arg/c.893A>G,aAg/aGg,MODERATE,COSM148442(2),0.367812,0.6438,rs2187094,0.47(T),0.399(B),1.125(L),-1.0599(T),,chr18,66513615,66513615,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys298Arg/c.893A>G|513|CCDC102B|protein_coding|CODING|NM_001093729.1|6|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys298Arg/c.893A>G|513|CCDC102B|protein_coding|CODING|NM_024781.2|4|1)",,,,,0.3957,0.4467,0.4006,0.30,0.13,0.38,,0.000011(D),0.000(P),"2.44,2.44(T,T)",0.0000(T),0.262,0.956416,5.56,4.4,0.528000,1.043000,2.635000,0.313000,0.998000,1.000000,9.5041
synonymous_variant,DOK6,SILENT,NM_152721.5:p.Asp118Asp/c.354T>C,gaT/gaC,LOW,COSM4131074(1),0.793131,0.9573,rs8099030,,,,,,chr18,67345034,67345034,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp118Asp/c.354T>C|331|DOK6|protein_coding|CODING|NM_152721.5|4|1),HepG2:H3K36me3,,,,0.8139,0.8256,0.8072,0.76,0.69,0.80,,,,,,,,,,,,,,,,
synonymous_variant,DOK6,SILENT,NM_152721.5:p.Thr146Thr/c.438A>G,acA/acG,LOW,,0.485024,0.7331,rs4426448,,,,,,chr18,67365668,67365668,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr146Thr/c.438A>G|331|DOK6|protein_coding|CODING|NM_152721.5|5|1),HepG2:H3K36me3,,,,0.4274,0.3501,0.4692,0.46,0.45,0.47,,,,,,,,,,,,,,,,
missense_variant,CD226,MISSENSE,NM_006566.2:p.Ser307Gly/c.919A>G,Agt/Ggt,MODERATE,COSM1179777(1),0.469449,0.6121,rs763361,0.06(T),0.002(B),0(N),-0.9404(T),,chr18,67531642,67531642,T,C,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser307Gly/c.919A>G|336|CD226|protein_coding|CODING|NM_006566.2|7|1),"HMEC:H3K36me3,HSMM:H3K36me3,GM06990:H3K36me3","Type_1_diabetes_autoantibodies,Type_1_diabetes",,,0.4867,0.5476,0.5268,0.45,0.32,0.52,,0.765093(N),1.000(P),1.9(T),0.0000(T),0.045,-1.250683,0.225,0.225,0.254000,0.257000,-0.188000,0.010000,0.004000,0.000000,.
missense_variant,RTTN,MISSENSE,NM_173630.3:p.Phe1761Ser/c.5282T>C,tTt/tCt,MODERATE,,0.790735,1,rs4891392,0.55(T),0.001(B),-0.55(N),-1.0320(T),,chr18,67718688,67718688,A,G,hom,missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe1761Ser/c.5282T>C|2226|RTTN|protein_coding|CODING|NM_173630.3|39|1),"K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118217.2,,0.9673,0.9121,0.9513,0.80,0.46,0.96,,0.812763(N),1.000(P),0.93(T),0.0000(T),0.005,0.625456,5.42,-1.23,-1.115000,-0.576000,-1.402000,0.001000,0.000000,0.000000,4.7664
synonymous_variant,RTTN,SILENT,NM_173630.3:p.Leu952Leu/c.2856A>G,ttA/ttG,LOW,,0.00539137,0,rs35139926,,,,,,chr18,67802449,67802449,T,C,het,synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu952Leu/c.2856A>G|2226|RTTN|protein_coding|CODING|NM_173630.3|22|1),"HUVEC:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118201.2,,0,0.0029,0.0249,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,RTTN,MISSENSE,NM_173630.3:p.Ser126Ala/c.376T>G,Tca/Gca,MODERATE,,0.71226,0.994,rs3911730,0.85(T),"0.002,0.001(B,B)",1.265(L),-0.9202(T),,chr18,67871343,67871343,A,C,hom,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser126Ala/c.376T>G|2226|RTTN|protein_coding|CODING|NM_173630.3|3|1),"HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000118208.2,,0.9029,0.8401,0.9135,0.73,0.29,0.92,,0.613335(N),1.000(P),"0.58,0.46,-0.13(T,T,T)",0.0000(T),0.044,1.365614,5.54,-1.54,0.528000,-0.510000,-0.751000,0.228000,0.000000,0.000000,0.8162
synonymous_variant,SOCS6,SILENT,NM_004232.3:p.Thr125Thr/c.375G>A,acG/acA,LOW,,0.0992412,0.0833,rs2231562,,,,,,chr18,67992279,67992279,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr125Thr/c.375G>A|535|SOCS6|protein_coding|CODING|NM_004232.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0726,0.0922,0.163,0.13,0.08,0.15,,,,,,,,,,,,,,,,
synonymous_variant,CBLN2,SILENT,NM_182511.3:p.Pro25Pro/c.75G>T,ccG/ccT,LOW,COSM4131077(1),0.563099,0.381,rs7237888,,,,,,chr18,70209321,70209321,C,A,hom,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro25Pro/c.75G>T|224|CBLN2|protein_coding|CODING|NM_182511.3|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.6728,0.8573,0.9304,0.76,0.41,0.94,,,,,,,,,,,,,,,,
missense_variant,NETO1,MISSENSE,NM_001201465.1:p.Ser481Asn/c.1442G>A,aGc/aAc,MODERATE,,0.988419,1,rs922999,0.41(T),"0.0,0.632(B,P)",1.795(L),-0.9193(T),,chr18,70417396,70417396,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser481Asn/c.1442G>A|533|NETO1|protein_coding|CODING|NM_001201465.1|9|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser481Asn/c.1442G>A|533|NETO1|protein_coding|CODING|NM_138966.3|9|1)",NHEK:H3K36me3,,,,1,0.9885,1,0.99,0.97,1.00,,0.000143(N),0.000(P),"1.66,1.64(T,T)",0.0000(T),0.024,2.913649,5.76,-0.592,-0.550000,-0.110000,1.710000,0.981000,0.998000,1.000000,11.7397
missense_variant,C18orf63,MISSENSE,NM_001174123.1:p.Leu676Pro/c.2027T>C,cTt/cCt,MODERATE,,0.998203,1,rs12606060,0.28(T),0.0(B),-1.355(N),-1.0089(T),,chr18,72021717,72021717,T,C,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu676Pro/c.2027T>C|685|C18orf63|protein_coding|CODING|NM_001174123.1|13|1),"HUVEC:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,1,0.9986,0.998,,,,,0.572242(N),1.000(P),,0.0000(T),0.077,0.171032,4.87,-3.45,-0.349000,-1.246000,-0.058000,0.546000,0.024000,0.013000,1.4091
missense_variant,FAM69C,MISSENSE,NM_001044369.2:p.Gln405Arg/c.1214A>G,cAa/cGa,MODERATE,COSM4131078(2),0.335064,0.2589,rs2278154,0.61(T),0.0(B),-1.59(N),-0.9457(T),,chr18,72103782,72103782,T,C,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln405Arg/c.1214A>G|419|FAM69C|protein_coding|CODING|NM_001044369.2|4|1),"K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3834,0.2997,0.3797,0.36,0.32,0.38,,0.088114(N),1.000(P),,0.0000(T),0.016,-0.506740,4.95,4.08,-0.220000,0.639000,1.315000,0.285000,0.021000,0.003000,8.5284
missense_variant,FAM69C,MISSENSE,NM_001044369.2:p.Glu88Lys/c.262G>A,Gag/Aag,MODERATE,COSM4131080(1),0.983227,1,rs8087020,1(T),0.001(B),0.14(N),-0.9886(T),,chr18,72114455,72114455,C,T,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu88Lys/c.262G>A|419|FAM69C|protein_coding|CODING|NM_001044369.2|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9942,1,0.98,0.95,1.00,,,1.000(P),0.99(T),0.0000(T),0.045,-0.444002,3.78,-7.55,-0.817000,-1.788000,0.174000,0.737000,0.000000,0.000000,7.5674
missense_variant,CNDP1,MISSENSE,NM_032649.5:p.Ile113Val/c.337A>G,Atc/Gtc,MODERATE,,0.981629,1,rs4263028,1(T),0.0(B),0.11(N),-0.8980(T),,chr18,72228124,72228124,A,G,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile113Val/c.337A>G|507|CNDP1|protein_coding|CODING|NM_032649.5|4|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9971,1,0.98,0.95,1.00,,0.048869(N),0.992(P),3.21(T),0.0000(T),0.277,-1.615852,5.11,-2.4,-1.158000,-0.375000,0.015000,0.195000,0.915000,0.002000,12.9538
synonymous_variant,CNDP1,SILENT,NM_032649.5:p.Tyr241Tyr/c.723C>T,taC/taT,LOW,,0.454473,0.4008,rs12960862,,,,,,chr18,72234635,72234635,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr241Tyr/c.723C>T|507|CNDP1|protein_coding|CODING|NM_032649.5|6|1),IMR90:H3K27me3,,,,0.4939,0.4856,0.671,0.57,0.37,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ZNF407,SILENT,NM_017757.2:p.Asp11Asp/c.33T>C,gaT/gaC,LOW,,0.99361,1,rs7243081,,,,,,chr18,72343008,72343008,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp11Asp/c.33T>C|1815|ZNF407|protein_coding|CODING|NM_001146189.1|1|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp11Asp/c.33T>C|1660|ZNF407|protein_coding|CODING|NM_001146190.1|1|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp11Asp/c.33T>C|2248|ZNF407|protein_coding|CODING|NM_017757.2|1|1)","GM12878:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118938.2,,1,0.9539,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ZNF407,SILENT,NM_017757.2:p.Leu1503Leu/c.4507T>C,Tta/Cta,LOW,COSM1130046(2),0.423922,0.1845,rs12327359,,,,,,chr18,72347482,72347482,T,C,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1503Leu/c.4507T>C|1815|ZNF407|protein_coding|CODING|NM_001146189.1|1|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1503Leu/c.4507T>C|1660|ZNF407|protein_coding|CODING|NM_001146190.1|1|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu1503Leu/c.4507T>C|2248|ZNF407|protein_coding|CODING|NM_017757.2|1|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118940.2,,0.3456,0.3271,0.4175,0.51,0.69,0.43,,,,,,,,,,,,,,,,
missense_variant,ZNF407,MISSENSE,NM_017757.2:p.Glu2003Lys/c.6007G>A,Gag/Aag,MODERATE,,0.00279553,0,rs150419019,0.02(D),0.252(B),1.845(L),-1.0690(T),,chr18,72775684,72775684,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu2003Lys/c.6007G>A|2248|ZNF407|protein_coding|CODING|NM_017757.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0072,0.008,0.00,0.00,0.00,,,0.996(N),2.62(T),0.0264(T),0.248,1.147421,4.17,3.28,0.459000,0.662000,6.119000,0.134000,0.003000,1.000000,9.1058
synonymous_variant,ZNF407,SILENT,NM_017757.2:p.Thr2148Thr/c.6444G>A,acG/acA,LOW,COSM4131086(1),0.760383,0.9167,rs3744913,,,,,,chr18,72776121,72776121,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr2148Thr/c.6444G>A|2248|ZNF407|protein_coding|CODING|NM_017757.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118943.2,,0.8098,0.7896,0.8857,0.76,0.58,0.85,,,,,,,,,,,,,,,,
synonymous_variant,ZADH2,SILENT,NM_175907.4:p.Asn75Asn/c.225C>T,aaC/aaT,LOW,COSM3756215(1),0.297524,0.4563,rs7230037,,,,,,chr18,72914280,72914280,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn75Asn/c.225C>T|377|ZADH2|protein_coding|CODING|NM_175907.4|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2352,0.3948,0.4493,0.31,0.13,0.41,,,,,,,,,,,,,,,,
synonymous_variant,TSHZ1,SILENT,NM_005786.5:p.Tyr169Tyr/c.507T>C,taT/taC,LOW,,0.275759,0.1687,rs3744908,,,,,,chr18,72998004,72998004,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr169Tyr/c.507T>C|1032|TSHZ1|protein_coding|CODING|NM_005786.5|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3916,0.3545,0.4085,0.32,0.17,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TSHZ1,SILENT,NM_005786.5:p.Asp257Asp/c.771T>C,gaT/gaC,LOW,COSM4131093(1),0.285942,0.1677,rs3744909,,,,,,chr18,72998268,72998268,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp257Asp/c.771T>C|1032|TSHZ1|protein_coding|CODING|NM_005786.5|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3661,0.3732,0.4085,0.34,0.21,0.40,,,,,,,,,,,,,,,,
synonymous_variant,TSHZ1,SILENT,NM_005786.5:p.Pro343Pro/c.1029G>A,ccG/ccA,LOW,,0.0285543,0.002,rs34095753,,,,,,chr18,72998526,72998526,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro343Pro/c.1029G>A|1032|TSHZ1|protein_coding|CODING|NM_005786.5|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0624,0.0274,0.0586,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,TSHZ1,SILENT,NM_005786.5:p.Pro463Pro/c.1389T>C,ccT/ccC,LOW,COSM4131094(1),0.342252,0.1687,rs3809997,,,,,,chr18,72998886,72998886,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro463Pro/c.1389T>C|1032|TSHZ1|protein_coding|CODING|NM_005786.5|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3681,0.3732,0.4115,0.40,0.39,0.40,,,,,,,,,,,,,,,,
missense_variant,FLJ44313,MISSENSE,NM_001272093.2:p.Arg139Lys/c.416G>A,aGg/aAg,MODERATE,,0.878395,0.9444,rs4891164,,,,,,chr18,74208573,74208573,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg139Lys/c.416G>A|163|FLJ44313|protein_coding|CODING|NM_001272093.2|3|1),upstream_gene_variant(MODIFIER||1427||1163|ZNF516|protein_coding|CODING|NM_014643.3||1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.9826,0.9568,0.9612,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF236,MISSENSE,NM_007345.3:p.Ile613Val/c.1837A>G,Att/Gtt,MODERATE,,0.917732,0.8631,rs608433,1(T),0.0(B),-0.55(N),-0.9951(T),,chr18,74611127,74611127,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile613Val/c.1837A>G|1845|ZNF236|protein_coding|CODING|NM_007345.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8855,0.9654,0.9543,0.95,0.92,0.96,,0.103303(N),1.000(P),"2.99,3.15(T,T)",0.0000(T),0.028,-1.900209,5.15,1.27,-0.186000,-0.281000,0.620000,0.238000,0.000000,0.000000,6.1616
synonymous_variant,ZNF236,SILENT,NM_007345.3:p.His1226His/c.3678C>T,caC/caT,LOW,,0.0215655,0.002,rs61739891,,,,,,chr18,74637167,74637167,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His1226His/c.3678C>T|1845|ZNF236|protein_coding|CODING|NM_007345.3|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0378,0.0317,0.0457,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ZNF236,SILENT,NM_007345.3:p.His1744His/c.5232T>C,caT/caC,LOW,COSM3756217(1),0.587061,0.6587,rs470403,,,,,,chr18,74671768,74671768,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His1744His/c.5232T>C|1845|ZNF236|protein_coding|CODING|NM_007345.3|29|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6186,0.6369,0.6372,0.61,0.50,0.67,,,,,,,,,,,,,,,,
synonymous_variant,ZNF236,SILENT,NM_007345.3:p.Asp1817Asp/c.5451C>T,gaC/gaT,LOW,COSM3756218(1),0.316094,0.2956,rs73968242,,,,,,chr18,74680208,74680208,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1817Asp/c.5451C>T|1845|ZNF236|protein_coding|CODING|NM_007345.3|31|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.3444,0.4781,0.41,0.23,0.49,,,,,,,,,,,,,,,,
synonymous_variant,ZNF236,SILENT,NM_007345.3:p.Ala1834Ala/c.5502C>T,gcC/gcT,LOW,,0.892173,0.9772,rs657066,,,,,,chr18,74680259,74680259,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1834Ala/c.5502C>T|1845|ZNF236|protein_coding|CODING|NM_007345.3|31|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9816,0.9424,0.9672,0.90,0.73,0.98,,,,,,,,,,,,,,,,
synonymous_variant,MBP,SILENT,NM_001025101.1:p.Tyr203Tyr/c.609C>T,taC/taT,LOW,COSM148448(2),0.232827,0.3204,rs470797,,,,,,chr18,74701984,74701984,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr96Tyr/c.288C>T|197|MBP|protein_coding|CODING|NM_001025081.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr70Tyr/c.210C>T|171|MBP|protein_coding|CODING|NM_001025090.1|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr70Tyr/c.210C>T|160|MBP|protein_coding|CODING|NM_001025092.1|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr203Tyr/c.609C>T|304|MBP|protein_coding|CODING|NM_001025101.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr96Tyr/c.288C>T|186|MBP|protein_coding|CODING|NM_002385.2|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.2648,0.1916,0.1372,0.17,0.21,0.15,,,,,,,,,,,,,,,,
synonymous_variant,GALR1,SILENT,NM_001480.3:p.Gly47Gly/c.141T>C,ggT/ggC,LOW,COSM1389815(4),0.489816,0.374,rs5374,,,,,,chr18,74962645,74962645,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly47Gly/c.141T>C|349|GALR1|protein_coding|CODING|NM_001480.3|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,H1ESC:H3K4me1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.5164,0.4438,0.665,0.59,0.48,0.65,,,,,,,,,,,,,,,,
missense_variant,GALR1,MISSENSE,NM_001480.3:p.Ser334Asn/c.1001G>A,aGt/aAt,MODERATE,,0.90615,1,rs5376,0.68(T),0.0(B),-0.82(N),-0.9882(T),,chr18,74980809,74980809,G,A,hom,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser334Asn/c.1001G>A|349|GALR1|protein_coding|CODING|NM_001480.3|3|1),HepG2:H3K27me3,,,,0.999,0.9755,0.998,0.90,0.69,1.00,,0.046530(N),1.000(P),-0.49(T),0.0000(T),0.005,0.166723,4.77,1.01,-0.550000,-0.341000,0.050000,0.382000,0.000000,0.002000,1.7049
missense_variant,SALL3,MISSENSE,NM_171999.3:p.Thr533Ala/c.1597A>G,Act/Gct,MODERATE,COSM438398(9),0.71885,0.9127,rs7240860,0.14(T),"0.396,0.437(B,B)",2.15(M),-1.0599(T),,chr18,76753588,76753588,A,G,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr533Ala/c.1597A>G|1300|SALL3|protein_coding|CODING|NM_171999.3|2|1),H1ESC:H3K36me3,,,,0.8292,0.8242,0.8459,0.69,0.42,0.83,,0.000017(D),0.000(P),2.89(T),0.0000(T),0.359,-0.104379,5.2,2.73,-0.460000,0.267000,4.407000,0.006000,0.204000,1.000000,8.1421
missense_variant,SALL3,MISSENSE,NM_171999.3:p.Leu593Val/c.1777C>G,Ctc/Gtc,MODERATE,COSM1130040(3),0.793331,0.9226,rs2447437,0.56(T),"0.022,0.002(B,B)",1.05(L),-0.9756(T),,chr18,76753768,76753768,C,G,hom,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu593Val/c.1777C>G|1300|SALL3|protein_coding|CODING|NM_171999.3|2|1),H1ESC:H3K36me3,,,,0.8354,0.8444,0.8648,0.82,0.71,0.87,,0.155779(N),1.000(P),3.03(T),0.0000(T),0.073,-1.197989,5.2,5.2,0.563000,2.584000,0.292000,0.006000,0.157000,0.002000,10.231
synonymous_variant,SALL3,SILENT,NM_171999.3:p.Tyr825Tyr/c.2475C>T,taC/taT,LOW,COSM3756219(1),0.778954,0.9187,rs2472644,,,,,,chr18,76754466,76754466,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr825Tyr/c.2475C>T|1300|SALL3|protein_coding|CODING|NM_171999.3|2|1),H1ESC:H3K36me3,,,,0.8333,0.7622,0.8569,0.78,0.64,0.85,,,,,,,,,,,,,,,,
synonymous_variant,ATP9B,SILENT,NM_198531.3:p.Ala513Ala/c.1539T>G,gcT/gcG,LOW,COSM3756220(1),0.403355,0.38,rs3760541,,,,,,chr18,77067000,77067000,T,G,het,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala513Ala/c.1539T>G|1147|ATP9B|protein_coding|CODING|NM_198531.3|15|1),"NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4049,0.4481,0.4483,0.42,0.39,0.44,,,,,,,,,,,,,,,,
synonymous_variant,ATP9B,SILENT,NM_198531.3:p.Asp574Asp/c.1722C>T,gaC/gaT,LOW,COSM3756221(1),0.00838658,0,rs11664381,,,,,,chr18,77067183,77067183,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp574Asp/c.1722C>T|1147|ATP9B|protein_coding|CODING|NM_198531.3|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0058,0.0278,0.02,0.01,0.02,,,,,,,,,,,,,,,,
missense_variant,NFATC1,MISSENSE,NM_001278669.1:p.Pro68Thr/c.202C>A,Ccg/Acg,MODERATE,,0.0467252,0,rs1051978,0.02(D),"0.08,0.118,0.05,0.08,0.08,0.08,0.05(B,B,B,B,B,B,B)",2.135(M),-1.0625(T),,chr18,77170477,77170477,C,A,het,"missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro68Thr/c.202C>A|943|NFATC1|protein_coding|CODING|NM_001278669.1|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro68Thr/c.202C>A|713|NFATC1|protein_coding|CODING|NM_001278670.1|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro55Thr/c.163C>A|700|NFATC1|protein_coding|CODING|NM_001278672.1|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro55Thr/c.163C>A|703|NFATC1|protein_coding|CODING|NM_001278675.1|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro68Thr/c.202C>A|825|NFATC1|protein_coding|CODING|NM_006162.4|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro55Thr/c.163C>A|930|NFATC1|protein_coding|CODING|NM_172387.2|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro55Thr/c.163C>A|812|NFATC1|protein_coding|CODING|NM_172389.2|2|1),missense_variant(MODERATE|MISSENSE|Ccg/Acg|p.Pro68Thr/c.202C>A|716|NFATC1|protein_coding|CODING|NM_172390.2|2|1),intron_variant(MODIFIER|||c.-191+14126C>A|353|NFATC1|protein_coding|CODING|NM_172388.2|1|1),intron_variant(MODIFIER|||c.-191+9998C>A|471|NFATC1|protein_coding|CODING|NM_001278673.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0256,0.1527,0.0934,0.08,0.02,0.11,,0.000016(D),0.000(P),"0.99,0.99,0.99,0.99(T,T,T,T)",0.0010(T),0.226,1.318656,4.39,3.49,0.561000,1.013000,2.714000,0.137000,0.006000,0.236000,8.6371
synonymous_variant,NFATC1,SILENT,NM_001278669.1:p.Pro262Pro/c.786T>G,ccT/ccG,LOW,COSM3756223(3),0.590655,0.8562,rs2230112,,,,,,chr18,77171061,77171061,T,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro262Pro/c.786T>G|943|NFATC1|protein_coding|CODING|NM_001278669.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro262Pro/c.786T>G|713|NFATC1|protein_coding|CODING|NM_001278670.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro249Pro/c.747T>G|700|NFATC1|protein_coding|CODING|NM_001278672.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro249Pro/c.747T>G|703|NFATC1|protein_coding|CODING|NM_001278675.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro262Pro/c.786T>G|825|NFATC1|protein_coding|CODING|NM_006162.4|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro249Pro/c.747T>G|930|NFATC1|protein_coding|CODING|NM_172387.2|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro249Pro/c.747T>G|812|NFATC1|protein_coding|CODING|NM_172389.2|2|1),synonymous_variant(LOW|SILENT|ccT/ccG|p.Pro262Pro/c.786T>G|716|NFATC1|protein_coding|CODING|NM_172390.2|2|1),intron_variant(MODIFIER|||c.-191+14710T>G|353|NFATC1|protein_coding|CODING|NM_172388.2|1|1),intron_variant(MODIFIER|||c.-191+10582T>G|471|NFATC1|protein_coding|CODING|NM_001278673.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3",,,,0.6748,0.768,0.7018,0.55,0.26,0.70,,,,,,,,,,,,,,,,
synonymous_variant,NFATC1,SILENT,NM_001278669.1:p.Pro662Pro/c.1986A>G,ccA/ccG,LOW,COSM3756224(1),0.404952,0.374,rs25656,,,,,,chr18,77227476,77227476,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro662Pro/c.1986A>G|943|NFATC1|protein_coding|CODING|NM_001278669.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro662Pro/c.1986A>G|713|NFATC1|protein_coding|CODING|NM_001278670.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro649Pro/c.1947A>G|700|NFATC1|protein_coding|CODING|NM_001278672.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro190Pro/c.570A>G|471|NFATC1|protein_coding|CODING|NM_001278673.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro662Pro/c.1986A>G|825|NFATC1|protein_coding|CODING|NM_006162.4|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro649Pro/c.1947A>G|930|NFATC1|protein_coding|CODING|NM_172387.2|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro190Pro/c.570A>G|353|NFATC1|protein_coding|CODING|NM_172388.2|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro649Pro/c.1947A>G|812|NFATC1|protein_coding|CODING|NM_172389.2|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro649Pro/c.1947A>G|703|NFATC1|protein_coding|CODING|NM_001278675.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro662Pro/c.1986A>G|716|NFATC1|protein_coding|CODING|NM_172390.2|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.2055,0.379,0.2972,0.42,0.61,0.32,,,,,,,,,,,,,,,,
missense_variant,NFATC1,MISSENSE,NM_001278669.1:p.Cys751Gly/c.2251T>G,Tgt/Ggt,MODERATE,COSM438403(3),0.338858,0.3542,rs754093,0(D),"0.325,0.115(B,B)",1.73(L),-0.9085(T),,chr18,77246406,77246406,T,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys751Gly/c.2251T>G|825|NFATC1|protein_coding|CODING|NM_006162.4|9|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys279Gly/c.835T>G|353|NFATC1|protein_coding|CODING|NM_172388.2|8|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys738Gly/c.2212T>G|812|NFATC1|protein_coding|CODING|NM_172389.2|9|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys751Gly/c.2251T>G|943|NFATC1|protein_coding|CODING|NM_001278669.1|9|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys279Gly/c.835T>G|471|NFATC1|protein_coding|CODING|NM_001278673.1|8|1),missense_variant(MODERATE|MISSENSE|Tgt/Ggt|p.Cys738Gly/c.2212T>G|930|NFATC1|protein_coding|CODING|NM_172387.2|9|1),intron_variant(MODIFIER|||c.2092+18824T>G|713|NFATC1|protein_coding|CODING|NM_001278670.1|8|1),intron_variant(MODIFIER|||c.2053+18824T>G|700|NFATC1|protein_coding|CODING|NM_001278672.1|8|1)","HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.3783,0.415,0.4722,0.37,0.18,0.46,,0.001103(N),0.000(P),"2.03,2.03,2.03,2.03(T,T,T,T)",0.0000(T),0.448,1.124206,4.66,3.49,0.520000,0.745000,4.802000,0.101000,0.064000,1.000000,9.6915
synonymous_variant,NFATC1,SILENT,NM_001278669.1:p.Gly763Gly/c.2289C>T,ggC/ggT,LOW,COSM3756226(1),0.0423323,0,rs7233684,,,,,,chr18,77246444,77246444,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly763Gly/c.2289C>T|825|NFATC1|protein_coding|CODING|NM_006162.4|9|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly291Gly/c.873C>T|353|NFATC1|protein_coding|CODING|NM_172388.2|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly750Gly/c.2250C>T|812|NFATC1|protein_coding|CODING|NM_172389.2|9|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly763Gly/c.2289C>T|943|NFATC1|protein_coding|CODING|NM_001278669.1|9|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly291Gly/c.873C>T|471|NFATC1|protein_coding|CODING|NM_001278673.1|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly750Gly/c.2250C>T|930|NFATC1|protein_coding|CODING|NM_172387.2|9|1),intron_variant(MODIFIER|||c.2092+18862C>T|713|NFATC1|protein_coding|CODING|NM_001278670.1|8|1),intron_variant(MODIFIER|||c.2053+18862C>T|700|NFATC1|protein_coding|CODING|NM_001278672.1|8|1)","HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.0184,0.1412,0.0865,0.07,0.02,0.09,,,,,,,,,,,,,,,,
synonymous_variant,CTDP1,SILENT,NM_004715.4:p.Asp939Asp/c.2817T>C,gaT/gaC,LOW,COSM4131107(1),0.895168,1,rs626169,,,,,,chr18,77513721,77513721,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp820Asp/c.2460T>C|842|CTDP1|protein_coding|CODING|NM_001202504.1|13|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp939Asp/c.2817T>C|961|CTDP1|protein_coding|CODING|NM_004715.4|13|1),3_prime_UTR_variant(MODIFIER||50|c.*50T>C|867|CTDP1|protein_coding|CODING|NM_048368.3|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116845.2,,0.9785,0.9683,0.998,0.90,0.71,0.99,,,,,,,,,,,,,,,,
missense_variant,HSBP1L1,MISSENSE,NM_001136180.1:p.Lys55Asn/c.165G>T,aaG/aaT,MODERATE,,0.798522,0.9167,rs2298645,0.57(T),0.0(B),,-1.0164(T),,chr18,77728135,77728135,G,T,hom,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys55Asn/c.165G>T|74|HSBP1L1|protein_coding|CODING|NM_001136180.1|3|1),"HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8793,0.8271,0.825,0.77,0.63,0.83,,,1.000(P),,0.0000(T),0.023,-1.302786,4.52,-2.31,-1.332000,-0.901000,-0.165000,0.118000,0.000000,0.023000,7.7642
missense_variant,RBFA,MISSENSE,NM_024805.2:p.Gly226Ser/c.676G>A,Ggc/Agc,MODERATE,COSM990126(1),0.000798722,0,rs149756081,0.82(T),0.055(B),,-1.0517(T),,chr18,77805799,77805799,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly226Ser/c.676G>A|343|RBFA|protein_coding|CODING|NM_024805.2|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala197Ala/c.591G>A|242|RBFA|protein_coding|CODING|NM_001171967.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.003,0.00,0.00,0.00,,0.907371(N),1.000(N),2.03(T),0.0147(T),0.043,-0.045100,3.44,1.2,-0.195000,0.259000,0.150000,0.001000,0.001000,0.000000,3.0581
missense_variant,RBFA,MISSENSE,NM_024805.2:p.Asn245His/c.733A>C,Aac/Cac,MODERATE,,0.389776,0.4821,rs3744872,0.16(T),0.257(B),,-0.8958(T),,chr18,77805856,77805856,A,C,het,"missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn245His/c.733A>C|343|RBFA|protein_coding|CODING|NM_024805.2|7|1),synonymous_variant(LOW|SILENT|tcA/tcC|p.Ser216Ser/c.648A>C|242|RBFA|protein_coding|CODING|NM_001171967.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5082,0.4697,0.3161,0.27,0.23,0.29,,0.150828(N),0.000(P),1.69(T),0.0000(T),0.084,1.169886,4.78,2.11,0.533000,0.741000,1.650000,0.175000,0.983000,1.000000,10.1421
missense_variant,RBFA,MISSENSE,NM_024805.2:p.Lys276Gln/c.826A>C,Aaa/Caa,MODERATE,COSM4131110(1),0.204073,0.1696,rs3744873,0.06(T),0.296(B),1.735(L),-0.9770(T),,chr18,77805949,77805949,A,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys276Gln/c.826A>C|343|RBFA|protein_coding|CODING|NM_024805.2|7|1),3_prime_UTR_variant(MODIFIER||12|c.*12A>C|242|RBFA|protein_coding|CODING|NM_001171967.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1319,0.1801,0.339,0.32,0.25,0.35,,0.480480(N),1.000(P),1.82(T),0.0000(T),0.037,1.916400,4.53,2.03,-0.290000,0.198000,0.697000,0.005000,0.000000,0.001000,5.5151
synonymous_variant,ADNP2,SILENT,NM_014913.3:p.Pro516Pro/c.1548G>A,ccG/ccA,LOW,COSM4000472(1),0.41873,0.5764,rs3744877,,,,,,chr18,77894844,77894844,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro516Pro/c.1548G>A|1131|ADNP2|protein_coding|CODING|NM_014913.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4918,0.5086,0.4771,0.38,0.20,0.48,,,,,,,,,,,,,,,,
missense_variant,THEG,MISSENSE,NM_016585.4:p.Arg193Cys/c.577C>T,Cgc/Tgc,MODERATE,,0.0091853,0,rs35119230,0(D),"0.997,0.998(D,D)",2.44(M),-1.0617(T),,chr19,372689,372689,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg193Cys/c.577C>T|379|THEG|protein_coding|CODING|NM_016585.4|5|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg169Cys/c.505C>T|355|THEG|protein_coding|CODING|NM_199202.2|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:DNase1,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0031,0.0101,0.0338,0.03,0.01,0.04,,0.000061(D),0.999(N),"1.37,1.34(T,T)",0.0610(T),0.375,1.653400,3.31,3.31,0.561000,2.168000,1.195000,0.153000,0.041000,0.047000,10.3558
synonymous_variant,C2CD4C,SILENT,NM_001136263.1:p.Ala154Ala/c.462T>C,gcT/gcC,LOW,COSM439521(3),0.742812,0.6141,rs10411998,,,,,,chr19,407900,407900,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala154Ala/c.462T>C|421|C2CD4C|protein_coding|CODING|NM_001136263.1|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:USF1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5634,0.8055,0.7545,,,,,,,,,,,,,,,,,,,
missense_variant,SHC2,MISSENSE,NM_012435.2:p.Gly110Ala/c.329G>C,gGg/gCg,MODERATE,COSM4132131(1),,,rs189741717,0.7(T),0.0(B),-0.345(N),-1.0164(T),,chr19,460668,460668,C,G,het,missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly110Ala/c.329G>C|582|SHC2|protein_coding|CODING|NM_012435.2|1|1),"K562:ZBTB7A,K562:H3K4me3,NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3,K562:DNase1",,,,,,,,,,,0.065398(N),0.999(P),1.82(T),0.0000(T),0.069,-1.031925,2.01,0.612,-1.976000,-0.004000,0.701000,0.008000,0.260000,1.000000,9.2109
missense_variant,ODF3L2,MISSENSE,NM_182577.2:p.Val135Ala/c.404T>C,gTg/gCg,MODERATE,COSM4132153(1),0.436901,0.6637,rs34551779,0.56(T),"0.012,0.012(B,B)",0.35(N),-0.9449(T),,chr19,464310,464310,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val135Ala/c.404T>C|289|ODF3L2|protein_coding|CODING|NM_182577.2|4|1),IMR90:H3K27me3,,,,0.3773,0.549,0.4563,0.36,0.26,0.41,,0.619156(N),1.000(P),"1.54,1.0(T,T)",0.0000(T),0.019,-1.449968,4.06,0.605,-0.518000,0.016000,1.422000,0.001000,0.037000,0.577000,3.6483
synonymous_variant,MADCAM1,SILENT,NM_130760.2:p.Pro122Pro/c.366A>G,ccA/ccG,LOW,COSM439965(2),0.633586,0.753,rs2302217,,,,,,chr19,498524,498524,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro122Pro/c.366A>G|382|MADCAM1|protein_coding|CODING|NM_130760.2|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro122Pro/c.366A>G|295|MADCAM1|protein_coding|CODING|NM_130762.2|3|1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5716,0.438,0.4563,0.56,0.77,0.46,,,,,,,,,,,,,,,,
missense_variant,MADCAM1,MISSENSE,NM_130760.2:p.Pro300His/c.899C>A,cCc/cAc,MODERATE,COSM4132274(1),0.217252,0.3224,rs3745925,0.11(T),0.506(P),0.345(N),-1.0027(T),,chr19,501900,501900,C,A,hom,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro300His/c.899C>A|382|MADCAM1|protein_coding|CODING|NM_130760.2|4|1),intron_variant(MODIFIER|||c.668-2845C>A|295|MADCAM1|protein_coding|CODING|NM_130762.2|3|1)","H1ESC:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3",,,,0.1074,0.2017,0.2386,0.20,0.20,0.20,,0.177235(U),1.000(P),2.88(T),0.0000(T),0.177,-1.011721,1.75,-0.825,0.650000,-0.143000,0.049000,0.004000,0.000000,0.002000,0.5786
synonymous_variant,GZMM,SILENT,NM_005317.3:p.Gln169Gln/c.507A>G,caA/caG,LOW,,0.0367412,0.0298,rs59771750,,,,,,chr19,549080,549080,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln130Gln/c.390A>G|218|GZMM|protein_coding|CODING|NM_001258351.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln169Gln/c.507A>G|257|GZMM|protein_coding|CODING|NM_005317.3|4|1)","H1ESC:DNase1,HUVEC:DNase1,HepG2:H3K27me3",,,,0.0399,0.0533,0.0686,0.05,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,GZMM,MISSENSE,NM_005317.3:p.Arg221Gly/c.661A>G,Aga/Gga,MODERATE,COSM4132495(1),0.997204,1,rs1599882,1(T),0.0(B),-4.215(N),-0.9065(T),,chr19,549678,549678,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg182Gly/c.544A>G|218|GZMM|protein_coding|CODING|NM_001258351.1|5|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg221Gly/c.661A>G|257|GZMM|protein_coding|CODING|NM_005317.3|5|1)",HepG2:H3K27me3,,,,1,0.9942,0.9901,0.99,1.00,0.99,,0.116684(N),1.000(P),-0.07(T),0.0000(T),0.332,-0.993033,3.59,1.17,-0.232000,0.186000,-0.207000,0.053000,0.014000,0.000000,2.9497
synonymous_variant,BSG,SILENT,NM_001728.3:p.Asp181Asp/c.543C>T,gaC/gaT,LOW,COSM3933215(2),0.188698,0.2282,rs1803202,,,,,,chr19,579627,579627,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp181Asp/c.543C>T|385|BSG|protein_coding|CODING|NM_001728.3|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp65Asp/c.195C>T|269|BSG|protein_coding|CODING|NM_198589.2|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||176|BSG|protein_coding|CODING|NM_198590.2|2|1),5_prime_UTR_variant(MODIFIER||807|c.-85C>T|176|BSG|protein_coding|CODING|NM_198590.2|2|1),intron_variant(MODIFIER|||c.33-752C>T|205|BSG|protein_coding|CODING|NM_198591.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2699,0.0908,0.1103,0.12,0.17,0.10,,,,,,,,,,,,,,,,
synonymous_variant,BSG,SILENT,NM_001728.3:p.Ser194Ser/c.582C>G,tcC/tcG,LOW,,0.190096,0.2341,rs2229664,,,,,,chr19,580388,580388,C,G,het,"synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser194Ser/c.582C>G|385|BSG|protein_coding|CODING|NM_001728.3|4|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser78Ser/c.234C>G|269|BSG|protein_coding|CODING|NM_198589.2|3|1),synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser14Ser/c.42C>G|205|BSG|protein_coding|CODING|NM_198591.2|2|1),5_prime_UTR_variant(MODIFIER||46|c.-46C>G|176|BSG|protein_coding|CODING|NM_198590.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2689,0.0908,0.1113,0.12,0.17,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Asp238Asp/c.714T>C,gaT/gaC,LOW,,0.236022,0.2837,rs56342526,,,,,,chr19,603625,603625,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp238Asp/c.714T>C|889|HCN2|protein_coding|CODING|NM_001194.3|2|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4315,0.0908,0.0984,0.15,0.24,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Thr241Thr/c.723T>C,acT/acC,LOW,,0.239018,0.2877,rs56131056,,,,,,chr19,603634,603634,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr241Thr/c.723T>C|889|HCN2|protein_coding|CODING|NM_001194.3|2|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4366,0.0908,0.0984,0.15,0.24,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Tyr286Tyr/c.858T>C,taT/taC,LOW,,0.238618,0.2897,rs55659726,,,,,,chr19,603769,603769,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr286Tyr/c.858T>C|889|HCN2|protein_coding|CODING|NM_001194.3|2|1),"H1ESC:H3K27me3,CD4:H4K20me1,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:DNase1,K562:DNase1",,,,0.4376,0.0908,0.0984,0.16,0.25,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Phe305Phe/c.915C>T,ttC/ttT,LOW,,0.236821,0.2897,rs56170955,,,,,,chr19,603826,603826,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe305Phe/c.915C>T|889|HCN2|protein_coding|CODING|NM_001194.3|2|1),"H1ESC:H3K27me3,CD4:H4K20me1,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:DNase1,K562:DNase1",,,,0.4284,0.0908,0.0984,0.16,0.25,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Arg321Arg/c.963C>T,cgC/cgT,LOW,COSM3773918(1),0.233027,0.2897,rs55780677,,,,,,chr19,603874,603874,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg321Arg/c.963C>T|889|HCN2|protein_coding|CODING|NM_001194.3|2|1),"H1ESC:H3K27me3,CD4:H4K20me1,NHEK:H3K27me3,GM06990:DNase1,K562:DNase1",,,,0.408,0.0908,0.0974,0.15,0.25,0.10,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Pro389Pro/c.1167T>C,ccT/ccC,LOW,COSM4132715(3),0.605232,0.7669,rs12981860,,,,,,chr19,605171,605171,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro389Pro/c.1167T>C|889|HCN2|protein_coding|CODING|NM_001194.3|3|1),"K562:ZBTB7A,H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:CTCF,K562:SP2,CD4:H4K20me1,GM12878:ELF1,K562:SETDB1,GM12878:CTCF,K562:Cmyc,K562:CTCFL,K562:E2F6,K562:H3K9ac,K562:ELF1,HepG2:CTCF,HepG2:DNase1,GM12878:DNase1,K562:H3K4me2,GM06990:DNase1,K562:DNase1,K562:E2F4,GM06990:CTCF",,,,0.5082,0.5418,0.5994,0.61,0.56,0.64,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Ala548Ala/c.1644C>T,gcC/gcT,LOW,COSM3757375(1),0.285144,0.2659,rs2301778,,,,,,chr19,613307,613307,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala548Ala/c.1644C>T|889|HCN2|protein_coding|CODING|NM_001194.3|6|1),"H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3374,0.1859,0.3241,0.29,0.27,0.30,,,,,,,,,,,,,,,,
synonymous_variant,HCN2,SILENT,NM_001194.3:p.Ala624Ala/c.1872T>C,gcT/gcC,LOW,COSM3981722(2),0.821685,0.8958,rs1054786,,,,,,chr19,613898,613898,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala624Ala/c.1872T>C|889|HCN2|protein_coding|CODING|NM_001194.3|7|1),"H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8354,0.7349,0.5865,0.69,0.92,0.58,,,,,,,,,,,,,,,,
synonymous_variant,POLRMT,SILENT,NM_005035.3:p.Ile1179Ile/c.3537C>T,atC/atT,LOW,COSM3757378(1),0.0908546,0.005,rs41551212,,,,,,chr19,617614,617614,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile1179Ile/c.3537C>T|1230|POLRMT|protein_coding|CODING|NM_005035.3|19|1),downstream_gene_variant(MODIFIER||455||889|HCN2|protein_coding|CODING|NM_001194.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1892,0.1052,0.1541,0.13,0.06,0.17,,,,,,,,,,,,,,,,
synonymous_variant,POLRMT,SILENT,NM_005035.3:p.Pro1081Pro/c.3243C>G,ccC/ccG,LOW,COSM148451(2),0.622404,0.5823,rs14155,,,,,,chr19,619021,619021,G,C,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro1081Pro/c.3243C>G|1230|POLRMT|protein_coding|CODING|NM_005035.3|15|1),downstream_gene_variant(MODIFIER||1862||889|HCN2|protein_coding|CODING|NM_001194.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7822,0.4006,0.5119,0.55,0.67,0.49,,,,,,,,,,,,,,,,
synonymous_variant,POLRMT,SILENT,NM_005035.3:p.Ala662Ala/c.1986T>C,gcT/gcC,LOW,COSM440577(7),0.620008,0.5813,rs2238547,,,,,,chr19,621712,621712,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala662Ala/c.1986T>C|1230|POLRMT|protein_coding|CODING|NM_005035.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7802,0.3905,0.504,,,,,,,,,,,,,,,,,,,
missense_variant,POLRMT,MISSENSE,NM_005035.3:p.Glu555Ala/c.1664A>C,gAg/gCg,MODERATE,COSM1564260(11),0.620407,0.5804,rs2238549,0.84(T),0.0(B),-1.445(N),-0.9608(T),,chr19,622336,622336,T,G,hom,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu555Ala/c.1664A>C|1230|POLRMT|protein_coding|CODING|NM_005035.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7791,0.3905,0.505,0.45,0.55,0.40,,0.943661(N),1.000(P),1.11(T),0.0000(T),0.021,-1.151710,4.15,0.782,-0.217000,-0.062000,0.188000,0.499000,0.177000,0.000000,3.713
synonymous_variant,POLRMT,SILENT,NM_005035.3:p.Thr293Thr/c.879T>C,acT/acC,LOW,COSM4132727(1),,,rs1056766,,,,,,chr19,625198,625198,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr293Thr/c.879T>C|1230|POLRMT|protein_coding|CODING|NM_005035.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.60,0.82,0.49,,,,,,,,,,,,,,,,
missense_variant,POLRMT,MISSENSE,NM_005035.3:p.His250Asp/c.748C>G,Cac/Gac,MODERATE,,,,rs137994680,0.06(T),0.897(P),2.045(M),-0.9862(T),,chr19,629614,629614,G,C,het,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His250Asp/c.748C>G|1230|POLRMT|protein_coding|CODING|NM_005035.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.000003(D),1.000(N),0.92(T),0.1714(T),0.616,2.537366,4.23,2.04,0.561000,0.905000,1.797000,0.011000,0.002000,0.578000,6.0649
synonymous_variant,POLRMT,SILENT,NM_005035.3:p.Ala172Ala/c.516C>T,gcC/gcT,LOW,COSM3757384(2),0.0982428,0.006,rs11550305,,,,,,chr19,629846,629846,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala172Ala/c.516C>T|1230|POLRMT|protein_coding|CODING|NM_005035.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1973,0.1081,0.174,0.14,0.06,0.18,,,,,,,,,,,,,,,,
missense_variant,POLRMT,MISSENSE,NM_005035.3:p.Pro38Ser/c.112C>T,Ccc/Tcc,MODERATE,COSM3757386(2),0.130591,0.246,rs12610885,1(T),0.004(B),0(N),-1.0446(T),,chr19,632915,632915,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro38Ser/c.112C>T|1230|POLRMT|protein_coding|CODING|NM_005035.3|2|1),"NHEK:H3K9ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1431,0.1009,0.1292,0.08,0.05,0.10,,0.068257(N),1.000(P),1.06(T),0.0000(T),0.06,-0.497349,3.48,-1.43,0.561000,-0.184000,0.155000,0.128000,0.004000,0.000000,7.8437
synonymous_variant,RNF126,SILENT,NM_194460.2:p.Ala83Ala/c.249T>A,gcT/gcA,LOW,,,,,,,,,,chr19,651805,651805,A,T,het,synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala83Ala/c.249T>A|311|RNF126|protein_coding|CODING|NM_194460.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,RNF126,SILENT,NM_194460.2:p.Leu65Leu/c.193T>C,Ttg/Ctg,LOW,COSM3757393(3),0.276957,0.0893,rs11554788,,,,,,chr19,652238,652238,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu65Leu/c.193T>C|311|RNF126|protein_coding|CODING|NM_194460.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1861,0.3084,0.3817,0.38,0.37,0.38,,,,,,,,,,,,,,,,
missense_variant,FSTL3,MISSENSE,NM_005860.2:p.Ala16Gly/c.47C>G,gCc/gGc,MODERATE,,,,,0.56(T),0.935(D),1.155(L),-1.0854(T),,chr19,676470,676470,C,G,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala16Gly/c.47C>G|263|FSTL3|protein_coding|CODING|NM_005860.2|1|1),"HeLa-S3:DNase1,NHEK:H3K4me3,HUVEC:PolII,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,HUVEC:DNase1,HeLa-S3:PolII,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3",,,,,,,,,,,0.154827(N),0.957(N),2.18(T),0.0687(T),0.343,1.261415,2.67,2.67,0.555000,1.833000,3.148000,0.004000,1.000000,1.000000,9.0645
missense_variant,PRSS57,MISSENSE,NM_214710.3:p.Pro143Leu/c.428C>T,cCg/cTg,MODERATE,COSM4132746(1),0.997204,1,rs8102982,1(T),0.0(B),-3.565(N),-0.9179(T),,chr19,687142,687142,G,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro143Leu/c.428C>T|283|PRSS57|protein_coding|CODING|NM_214710.3|4|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.999,0.9899,0.994,0.99,1.00,0.99,,0.008872(N),0.995(P),-2.21(D),0.0000(T),0.289,-0.506814,4.61,3.59,-0.521000,0.176000,2.161000,0.013000,0.086000,1.000000,8.1155
missense_variant,PALM,MISSENSE,NM_002579.2:p.Thr107Ala/c.319A>G,Act/Gct,MODERATE,COSM3722928(1),0.546326,0.5446,rs1050457,1(T),"0.001,0.001,0.009(B,B,B)",-0.205(N),-0.9569(T),,chr19,731144,731144,A,G,het,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr107Ala/c.319A>G|343|PALM|protein_coding|CODING|NM_001040134.1|5|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr107Ala/c.319A>G|387|PALM|protein_coding|CODING|NM_002579.2|5|1)","HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.4448,0.4942,0.4394,0.53,0.68,0.45,,0.631180(N),1.000(P),"2.44,2.44(T,T)",0.0000(T),0.032,-1.068560,4.06,-0.33,-0.282000,-0.100000,-2.358000,0.001000,0.000000,0.000000,4.8321
synonymous_variant,PALM,SILENT,NM_002579.2:p.Pro117Pro/c.351A>G,ccA/ccG,LOW,COSM3757404(1),0.023762,0,rs76698799,,,,,,chr19,731176,731176,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro117Pro/c.351A>G|343|PALM|protein_coding|CODING|NM_001040134.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro117Pro/c.351A>G|387|PALM|protein_coding|CODING|NM_002579.2|5|1)","HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0031,0.0317,0.0845,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,PALM,SILENT,NM_002579.2:p.Ala354Ala/c.1062C>T,gcC/gcT,LOW,,0.199681,0.0655,rs10421265,,,,,,chr19,746712,746712,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala310Ala/c.930C>T|343|PALM|protein_coding|CODING|NM_001040134.1|8|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala354Ala/c.1062C>T|387|PALM|protein_coding|CODING|NM_002579.2|9|1)",IMR90:H3K36me3,,,,0.1564,0.2392,0.2227,0.24,0.28,0.23,,,,,,,,,,,,,,,,
synonymous_variant,PTBP1,SILENT,NM_002819.4:p.Asn108Asn/c.324C>T,aaC/aaT,LOW,COSM3757415(1),0.0894569,0.0377,rs10420953,,,,,,chr19,804327,804327,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn108Asn/c.324C>T|557|PTBP1|protein_coding|CODING|NM_002819.4|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn108Asn/c.324C>T|550|PTBP1|protein_coding|CODING|NM_031990.3|5|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn108Asn/c.324C>T|531|PTBP1|protein_coding|CODING|NM_031991.3|5|1),upstream_gene_variant(MODIFIER||613|||MIR4745||NON_CODING|NR_039900.2||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,NHEK:DNase1",,,,0.1104,0.1527,0.0934,0.09,0.08,0.09,,,,,,,,,,,,,,,,
synonymous_variant,PTBP1,SILENT,NM_002819.4:p.Asp172Asp/c.516C>T,gaC/gaT,LOW,COSM3757417(4),0.0840655,0.0377,rs4986235,,,,,,chr19,804612,804612,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp172Asp/c.516C>T|557|PTBP1|protein_coding|CODING|NM_002819.4|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp172Asp/c.516C>T|550|PTBP1|protein_coding|CODING|NM_031990.3|6|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp172Asp/c.516C>T|531|PTBP1|protein_coding|CODING|NM_031991.3|6|1),upstream_gene_variant(MODIFIER||328|||MIR4745||NON_CODING|NR_039900.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1104,0.1513,0.0944,0.08,0.07,0.09,,,,,,,,,,,,,,,,
synonymous_variant,PTBP1,SILENT,NM_002819.4:p.Val498Val/c.1494C>A,gtC/gtA,LOW,,0.0291534,0.0298,rs11549883,,,,,,chr19,810573,810573,C,A,het,"synonymous_variant(LOW|SILENT|gtC/gtA|p.Val498Val/c.1494C>A|557|PTBP1|protein_coding|CODING|NM_002819.4|14|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val491Val/c.1473C>A|550|PTBP1|protein_coding|CODING|NM_031990.3|14|1),synonymous_variant(LOW|SILENT|gtC/gtA|p.Val472Val/c.1416C>A|531|PTBP1|protein_coding|CODING|NM_031991.3|13|1),downstream_gene_variant(MODIFIER||1915||718|LPPR3|protein_coding|CODING|NM_001270366.1||1),downstream_gene_variant(MODIFIER||1915||746|LPPR3|protein_coding|CODING|NM_024888.2||1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.0184,0.0692,0.0328,0.03,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,LPPR3,MISSENSE,NM_024888.2:p.Ala718Val/c.2153C>T,gCg/gTg,MODERATE,,0.0269569,0.0298,rs3746136,0.26(T),"0.0,0.001(B,B)",0(N),-1.0242(T),,chr19,812658,812658,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala690Val/c.2069C>T|718|LPPR3|protein_coding|CODING|NM_001270366.1|8|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala718Val/c.2153C>T|746|LPPR3|protein_coding|CODING|NM_024888.2|7|1),upstream_gene_variant(MODIFIER||926|||MIR3187||NON_CODING|NR_036154.1||1),downstream_gene_variant(MODIFIER||331||557|PTBP1|protein_coding|CODING|NM_002819.4||1),downstream_gene_variant(MODIFIER||331||550|PTBP1|protein_coding|CODING|NM_031990.3||1),downstream_gene_variant(MODIFIER||331||531|PTBP1|protein_coding|CODING|NM_031991.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,H1ESC:Gabp,CD4:H4K20me1,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,0.0194,0.0706,0.0318,,,,,0.039610(N),1.000(N),"1.91,1.89(T,T)",0.0009(T),0.113,2.133949,4.63,-1.3,0.291000,-0.357000,-0.325000,0.873000,0.000000,0.000000,9.7902
missense_variant,LPPR3,MISSENSE,NM_024888.2:p.Thr531Ala/c.1591A>G,Acg/Gcg,MODERATE,COSM3757419(2),0.295527,0.0456,rs351994,1(T),"0.0,0.0,0.0(B,B,B)",-0.14(N),-0.9439(T),,chr19,813220,813220,T,C,het,"missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr503Ala/c.1507A>G|718|LPPR3|protein_coding|CODING|NM_001270366.1|8|1),missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr531Ala/c.1591A>G|746|LPPR3|protein_coding|CODING|NM_024888.2|7|1),upstream_gene_variant(MODIFIER||364|||MIR3187||NON_CODING|NR_036154.1||1),downstream_gene_variant(MODIFIER||893||557|PTBP1|protein_coding|CODING|NM_002819.4||1),downstream_gene_variant(MODIFIER||893||550|PTBP1|protein_coding|CODING|NM_031990.3||1),downstream_gene_variant(MODIFIER||893||531|PTBP1|protein_coding|CODING|NM_031991.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,H1ESC:Gabp,CD4:H4K20me1,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2076,0.2378,0.1809,0.18,0.37,0.11,,0.089784(N),1.000(P),"2.02,2.02(T,T)",0.0000(T),0.053,-1.724891,3.16,3.16,-0.764000,0.640000,1.300000,0.404000,0.022000,0.346000,10.0419
synonymous_variant,LPPR3,SILENT,NM_024888.2:p.Val90Val/c.270G>A,gtG/gtA,LOW,COSM440667(1),0.0265575,0.0288,rs735657,,,,,,chr19,815319,815319,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val90Val/c.270G>A|718|LPPR3|protein_coding|CODING|NM_001270366.1|4|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val90Val/c.270G>A|746|LPPR3|protein_coding|CODING|NM_024888.2|4|1),downstream_gene_variant(MODIFIER||1666|||MIR3187||NON_CODING|NR_036154.1||1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM12878:EBF,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0194,0.072,0.0318,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,PRTN3,MISSENSE,NM_002777.3:p.Val119Ile/c.355G>A,Gtt/Att,MODERATE,COSM3723224(2),0.44389,0.3512,rs351111,1(T),0.086(B),-1.45(N),-0.9942(T),,chr19,844020,844020,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val119Ile/c.355G>A|256|PRTN3|protein_coding|CODING|NM_002777.3|3|1),"K562:H3K4me3,HeLa-S3:DNase1,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.4254,0.4971,0.4006,0.45,0.53,0.41,,,1.000(P),0.79(T),0.0000(T),0.081,-1.128857,2.73,-3.59,-0.348000,-0.588000,-1.066000,0.020000,0.000000,0.000000,7.6584
synonymous_variant,MED16,SILENT,NM_005481.2:p.Asp710Asp/c.2130C>T,gaC/gaT,LOW,COSM3757446(5),0.127796,0.0089,rs8100258,0.17(T),0.012(B),,-1.0236(T),,chr19,871222,871222,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp710Asp/c.2130C>T|877|MED16|protein_coding|CODING|NM_005481.2|13|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1871,0.1225,0.2505,0.20,0.12,0.23,,,0.000(P),,0.0000(T),.,1.068497,4.13,-5.03,-0.244000,-0.752000,-1.383000,0.229000,0.126000,0.003000,11.7769
synonymous_variant,MED16,SILENT,NM_005481.2:p.Phe645Phe/c.1935T>C,ttT/ttC,LOW,COSM3757448(1),0.176717,0.0089,rs72984031,,,,,,chr19,872089,872089,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe645Phe/c.1935T>C|877|MED16|protein_coding|CODING|NM_005481.2|12|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,K562:DNase1",,,,0.2198,0.1412,0.2793,0.26,0.24,0.27,,,,,,,,,,,,,,,,
synonymous_variant,MED16,SILENT,NM_005481.2:p.Phe277Phe/c.831T>C,ttT/ttC,LOW,COSM3757450(2),0.621206,0.6667,rs1060442,,,,,,chr19,885818,885818,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe277Phe/c.831T>C|877|MED16|protein_coding|CODING|NM_005481.2|5|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5982,0.5259,0.6133,0.62,0.63,0.61,,,,,,,,,,,,,,,,
synonymous_variant,R3HDM4,SILENT,NM_138774.3:p.Ser233Ser/c.699G>A,tcG/tcA,LOW,COSM440709(2),0.0814696,0.0109,rs2965284,,,,,,chr19,899444,899444,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser233Ser/c.699G>A|268|R3HDM4|protein_coding|CODING|NM_138774.3|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1217,0.1081,0.1809,0.14,0.04,0.19,,,,,,,,,,,,,,,,
missense_variant,KISS1R,MISSENSE,NM_032551.4:p.Leu364His/c.1091T>A,cTc/cAc,MODERATE,COSM4132890(3),0.783946,0.7589,rs350132,0.6(T),0.0(B),-0.345(N),-0.9923(T),,chr19,920642,920642,T,A,hom,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu364His/c.1091T>A|398|KISS1R|protein_coding|CODING|NM_032551.4|5|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.728,0.6988,0.7485,,,,,0.302432(N),1.000(P),-0.58(T),0.0000(T),0.072,-0.310400,4.36,-0.607,-0.385000,-0.349000,-1.559000,0.190000,0.075000,0.000000,0.8843
synonymous_variant,ARID3A,SILENT,NM_005224.2:p.Glu50Glu/c.150G>A,gaG/gaA,LOW,COSM3749581(3),0.460863,0.6756,rs3826948,,,,,,chr19,929678,929678,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu50Glu/c.150G>A|593|ARID3A|protein_coding|CODING|NM_005224.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.487,0.6223,0.42,0.16,0.54,,,,,,,,,,,,,,,,
synonymous_variant,ARID3A,SILENT,NM_005224.2:p.Pro75Pro/c.225A>G,ccA/ccG,LOW,COSM440857(3),0.884185,0.998,rs1799595,,,,,,chr19,929753,929753,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro75Pro/c.225A>G|593|ARID3A|protein_coding|CODING|NM_005224.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8436,0.804,0.836,0.88,0.92,0.85,,,,,,,,,,,,,,,,
synonymous_variant,ARID3A,SILENT,NM_005224.2:p.Asn387Asn/c.1161T>C,aaT/aaC,LOW,,0.938898,1,rs12608658,,,,,,chr19,965043,965043,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn387Asn/c.1161T>C|593|ARID3A|protein_coding|CODING|NM_005224.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9571,0.9107,0.9761,0.95,0.89,0.98,,,,,,,,,,,,,,,,
synonymous_variant,WDR18,SILENT,NM_024100.3:p.Asn60Asn/c.180T>C,aaT/aaC,LOW,COSM3749583(5),0.448482,0.3899,rs2301810,,,,,,chr19,984533,984533,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn60Asn/c.180T>C|432|WDR18|protein_coding|CODING|NM_024100.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.3793,0.438,0.5577,0.48,0.44,0.49,,,,,,,,,,,,,,,,
synonymous_variant,WDR18,SILENT,NM_024100.3:p.Leu67Leu/c.201C>G,ctC/ctG,LOW,COSM3749584(8),0.366813,0.2768,rs4806884,,,,,,chr19,984554,984554,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu67Leu/c.201C>G|432|WDR18|protein_coding|CODING|NM_024100.3|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,GM12878:ETS1,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.2863,0.4092,0.5567,0.41,0.31,0.46,,,,,,,,,,,,,,,,
missense_variant,WDR18,MISSENSE,NM_024100.3:p.Ala172Thr/c.514G>A,Gcg/Acg,MODERATE,COSM3757513(3),0.890375,0.7679,rs2158367,0.7(T),0.0(B),-1.08(N),-0.9762(T),,chr19,990281,990281,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala172Thr/c.514G>A|432|WDR18|protein_coding|CODING|NM_024100.3|4|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8937,0.7651,0.9553,0.95,0.99,0.94,,0.000126(N),1.000(P),2.37(T),0.0000(T),0.018,0.773690,4.12,4.12,-0.376000,0.643000,4.081000,0.930000,0.998000,1.000000,8.8655
synonymous_variant,GRIN3B,SILENT,NM_138690.1:p.Pro44Pro/c.132C>A,ccC/ccA,LOW,,0.32488,0.2798,rs112236900,,,,,,chr19,1000568,1000568,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro44Pro/c.132C>A|1043|GRIN3B|protein_coding|CODING|NM_138690.1|1|1),"K562:ZBTB7A,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2434,0.3948,0.498,,,,,,,,,,,,,,,,,,,
missense_variant,GRIN3B,MISSENSE,NM_138690.1:p.Thr157Met/c.470C>T,aCg/aTg,MODERATE,COSM1751290(3),0.180511,0.4415,rs2240154,0.02(D),0.925(D),1.78(L),-0.9027(T),,chr19,1003172,1003172,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr157Met/c.470C>T|1043|GRIN3B|protein_coding|CODING|NM_138690.1|2|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1575,0.2478,0.1252,0.10,0.03,0.14,,0.856029(U),0.998(P),2.77(T),0.0000(T),0.157,2.073457,3.38,3.38,0.449000,1.748000,1.365000,0.749000,0.869000,0.738000,9.1853
synonymous_variant,CNN2,SILENT,NM_004368.2:p.Ala128Ala/c.384G>T,gcG/gcT,LOW,COSM3756259(1),0.126997,0.1429,rs1141534,,,,,,chr19,1032689,1032689,G,T,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala128Ala/c.384G>T|309|CNN2|protein_coding|CODING|NM_004368.2|4|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala128Ala/c.384G>T|270|CNN2|protein_coding|CODING|NM_201277.1|4|1)","H1ESC:PolII,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,0.1687,0.1354,0.1948,0.16,0.06,0.21,,,,,,,,,,,,,,,,
synonymous_variant,CNN2,SILENT,NM_004368.2:p.Ala183Ala/c.549C>G,gcC/gcG,LOW,COSM3756261(1),0.113818,0.0962,rs1064410,,,,,,chr19,1036456,1036456,C,G,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala183Ala/c.549C>G|309|CNN2|protein_coding|CODING|NM_004368.2|6|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala144Ala/c.432C>G|270|CNN2|protein_coding|CODING|NM_201277.1|5|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.0951,0.1968,0.17,0.10,0.21,,,,,,,,,,,,,,,,
synonymous_variant,CNN2,SILENT,NM_004368.2:p.Arg187Arg/c.561A>G,agA/agG,LOW,COSM3756262(1),0.113818,0.0962,rs1064411,,,,,,chr19,1036468,1036468,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg187Arg/c.561A>G|309|CNN2|protein_coding|CODING|NM_004368.2|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg148Arg/c.444A>G|270|CNN2|protein_coding|CODING|NM_201277.1|5|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.0951,0.1968,0.17,0.10,0.21,,,,,,,,,,,,,,,,
synonymous_variant,CNN2,SILENT,NM_004368.2:p.Cys215Cys/c.645T>C,tgT/tgC,LOW,,0.832069,0.8393,rs2304262,,,,,,chr19,1036552,1036552,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys215Cys/c.645T>C|309|CNN2|protein_coding|CODING|NM_004368.2|6|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys176Cys/c.528T>C|270|CNN2|protein_coding|CODING|NM_201277.1|5|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8446,0.8963,0.8618,0.84,0.76,0.87,,,,,,,,,,,,,,,,
synonymous_variant,ABCA7,SILENT,NM_019112.3:p.Leu61Leu/c.183G>T,ctG/ctT,LOW,COSM3766262(1),0.0806709,0.0923,rs3764644,,,,,,chr19,1041852,1041852,G,T,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu61Leu/c.183G>T|2146|ABCA7|protein_coding|CODING|NM_019112.3|4|1),"H1ESC:H3K36me3,K562:H3K4me3,HeLa-S3:DNase1,NHEK:H3K4me3,HeLa-S3:Max,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HSMM:DNase1,CD4:H2BK5me1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,CD4:H3K4me1,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HeLa-S3:H3K4me3,GM06990:H3K36me3,K562:H3K4me2,NHEK:DNase1",,,,0.0634,0.0187,0.0358,0.07,0.12,0.04,,,,,,,,,,,,,,,,
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.Thr319Ala/c.955A>G,Acc/Gcc,MODERATE,,0.112819,0.0923,rs3752232,1(T),"0.001,0.0(B,B)",-1.59(N),-1.0502(T),,chr19,1043748,1043748,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr319Ala/c.955A>G|2146|ABCA7|protein_coding|CODING|NM_019112.3|10|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0593,0.0288,0.0358,0.11,0.25,0.04,,,1.000(P),"-1.93,-1.93(D,D)",0.0000(T),0.038,-1.068483,4.47,3.42,-0.374000,0.887000,1.483000,0.084000,0.990000,0.911000,7.098
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.His395Arg/c.1184A>G,cAc/cGc,MODERATE,COSM3756269(1),0.108826,0.0923,rs3764647,0.85(T),"0.002,0.0(B,B)",-0.505(N),-1.1160(T),,chr19,1044712,1044712,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His395Arg/c.1184A>G|2146|ABCA7|protein_coding|CODING|NM_019112.3|11|1),"H1ESC:H3K36me3,K562:Max,K562:PolII,K562:H3K27ac,K562:CTCF,K562:TFIIIC-110,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,K562:Cmyc,K562:CTCFL,K562:E2F6,K562:H3K9ac,K562:Rad21,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:H3K36me3,K562:H3K4me2,H1ESC:CTCF",,,,0.0593,0.0259,0.0358,0.11,0.24,0.04,,,1.000(P),"-2.0,-2.0(D,D)",0.0000(T),0.022,-0.214544,4.1,-4.44,-0.374000,-1.146000,-2.738000,0.177000,0.000000,0.000000,3.7456
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.Arg463His/c.1388G>A,cGc/cAc,MODERATE,COSM438468(3),0.0607029,0.1915,rs3752233,0.2(T),"0.796,0.836(P,P)",1.78(L),-0.7121(T),,chr19,1045173,1045173,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg463His/c.1388G>A|2146|ABCA7|protein_coding|CODING|NM_019112.3|12|1),"K562:ZBTB7A,H1ESC:H3K36me3,K562:Max,K562:PolII,K562:H3K27ac,CD4:DNase1,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,K562:Cfos,HUVEC:DNase1,K562:USF1,K562:Cmyc,K562:E2F6,K562:H3K9ac,NHEK:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,K562:DNase1,GM12878:Sin3Ak20",,,,0.0613,0.0086,0.0408,0.03,0.01,0.04,,,1.000(P),"-3.9,-3.9(D,D)",0.0194(T),0.129,4.720067,4.66,1.22,0.462000,0.356000,-0.365000,0.856000,0.852000,0.000000,2.9423
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.Asn718Thr/c.2153A>C,aAc/aCc,MODERATE,COSM3756272(1),0.0591054,0.1855,rs3752239,0.24(T),"0.182,0.58(B,P)",1.86(L),-0.9138(T),,chr19,1047537,1047537,A,C,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn718Thr/c.2153A>C|2146|ABCA7|protein_coding|CODING|NM_019112.3|16|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,GM12878:ZEB1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.0603,0.0086,0.0408,0.03,0.01,0.04,,,0.685(P),"-2.07,-2.07(D,D)",0.0057(T),0.152,3.573161,4.69,3.67,0.330000,0.638000,5.181000,0.779000,0.717000,1.000000,8.5128
synonymous_variant,ABCA7,SILENT,NM_019112.3:p.Ala1009Ala/c.3027C>T,gcC/gcT,LOW,COSM4131149(1),0.379393,0.3353,rs3764652,,,,,,chr19,1052005,1052005,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1009Ala/c.3027C>T|2146|ABCA7|protein_coding|CODING|NM_019112.3|22|1),"HepG2:H3K4me2,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,CD4:H2BK5me1,HepG2:H3K4me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4305,0.4107,0.4225,0.40,0.35,0.43,,,,,,,,,,,,,,,,
synonymous_variant,ABCA7,SILENT,NM_019112.3:p.Leu1139Leu/c.3417C>G,ctC/ctG,LOW,COSM3756276(1),0.182708,0.1915,rs3752241,,,,,,chr19,1053524,1053524,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu1139Leu/c.3417C>G|2146|ABCA7|protein_coding|CODING|NM_019112.3|24|1),"H1ESC:H3K36me3,K562:TFIIIC-110,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2485,0.0821,0.173,0.16,0.18,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ABCA7,SILENT,NM_019112.3:p.Leu1176Leu/c.3528A>G,ctA/ctG,LOW,,0.536142,0.3819,rs3752243,,,,,,chr19,1054060,1054060,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1176Leu/c.3528A>G|2146|ABCA7|protein_coding|CODING|NM_019112.3|26|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5,0.4712,0.4235,0.53,0.72,0.43,,,,,,,,,,,,,,,,
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.Arg1349Gln/c.4046G>A,cGg/cAg,MODERATE,COSM3766263(1),0.390575,0.3482,rs3745842,0.61(T),"0.004,0.002(B,B)",-1.1(N),-1.0646(T),,chr19,1055191,1055191,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1349Gln/c.4046G>A|2146|ABCA7|protein_coding|CODING|NM_019112.3|30|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4315,0.4121,0.4205,0.41,0.38,0.42,,,1.000(P),"-3.46,-3.46(D,D)",0.0000(T),0.024,-0.078683,3.68,-5.26,-1.464000,-1.084000,-2.995000,0.045000,0.077000,0.000000,10.5156
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.Gly1527Ala/c.4580G>C,gGt/gCt,MODERATE,COSM4131153(1),0.825479,0.6478,rs3752246,0.79(T),0.0(B),-1.61(N),-0.9885(T),,chr19,1056492,1056492,G,C,hom,missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly1527Ala/c.4580G>C|2146|ABCA7|protein_coding|CODING|NM_019112.3|33|1),"H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",Alzheimer_s_disease_late_onset,,,0.773,0.8674,0.8101,0.87,0.96,0.83,,,1.000(P),"-2.17,-2.17(D,D)",0.0000(T),0.037,-1.096956,3.76,1.57,-1.080000,-0.001000,-0.107000,0.064000,0.161000,0.001000,4.4481
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.Gln1686Arg/c.5057A>G,cAg/cGg,MODERATE,COSM3756282(1),0.0565096,0.1736,rs4147918,0.52(T),"0.004,0.004(B,B)",0.55(N),-1.0613(T),,chr19,1058176,1058176,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1686Arg/c.5057A>G|2146|ABCA7|protein_coding|CODING|NM_019112.3|37|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0115,0.0398,0.03,0.01,0.04,,,1.000(P),"-2.22,-2.22(D,D)",0.0030(T),0.07,0.988425,4.0,-4.27,-0.464000,-0.606000,-1.094000,0.971000,0.024000,0.000000,7.9949
synonymous_variant,ABCA7,SILENT,NM_019112.3:p.Ala1864Ala/c.5592T>C,gcT/gcC,LOW,COSM3756283(1),0.0565096,0.1736,rs4147921,,,,,,chr19,1062192,1062192,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1864Ala/c.5592T>C|2146|ABCA7|protein_coding|CODING|NM_019112.3|42|1),"H1ESC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0115,0.0398,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ABCA7,SILENT,NM_019112.3:p.Leu1995Leu/c.5985G>A,ctG/ctA,LOW,COSM4131171(1),0.60643,0.4365,rs4147930,,,,,,chr19,1064193,1064193,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1995Leu/c.5985G>A|2146|ABCA7|protein_coding|CODING|NM_019112.3|45|1),upstream_gene_variant(MODIFIER||1729||1152|HMHA1|protein_coding|CODING|NM_001258328.2||1)","H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,CD4:H2BK5me1",,,,0.5583,0.7882,0.7137,0.70,0.64,0.74,,,,,,,,,,,,,,,,
missense_variant,ABCA7,MISSENSE,NM_019112.3:p.Ala2045Ser/c.6133G>T,Gcg/Tcg,MODERATE,COSM3749452(18),0.605032,0.4325,rs4147934,0.97(T),"0.052,0.034(B,B)",1.15(L),-0.9327(T),,chr19,1065018,1065018,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala2045Ser/c.6133G>T|2146|ABCA7|protein_coding|CODING|NM_019112.3|46|1),upstream_gene_variant(MODIFIER||904||1152|HMHA1|protein_coding|CODING|NM_001258328.2||1)","NHEK:CTCF,K562:Max,HeLa-S3:Cmyc,HeLa-S3:DNase1,HUVEC:Max,HeLa-S3:Max,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,HepG2:PolII,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:DNase1,K562:Cmyc,CD4:H2BK5me1,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,CD4:CTCF,HeLa-S3:Ini1,HepG2:CTCF,GM12878:Rad21,CD4:HDAC1,HepG2:DNase1,HeLa-S3:E2F1,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,HeLa-S3:E2F6,GM06990:CTCF",,,,0.5542,0.7867,0.7147,0.75,0.70,0.77,,,1.000(P),"-1.69,-1.69(D,D)",0.0000(T),0.125,-0.977399,3.4,1.15,-1.130000,0.253000,1.745000,0.002000,0.020000,0.010000,5.61
synonymous_variant,HMHA1,SILENT,NM_001258328.2:p.Leu154Leu/c.460T>C,Ttg/Ctg,LOW,COSM4131174(1),0.404752,0.3611,rs3764653,,,,,,chr19,1068734,1068734,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu154Leu/c.460T>C|1152|HMHA1|protein_coding|CODING|NM_001258328.2|2|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu138Leu/c.412T>C|1136|HMHA1|protein_coding|CODING|NM_012292.4|2|1)","CD4:H2BK5ac,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H4K20me1,NH-A:H3K27me3,GM06990:H3K4me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K36me3,CD4:PolII,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3599,0.3862,0.3449,0.40,0.51,0.35,,,,,,,,,,,,,,,,
missense_variant,HMHA1,MISSENSE,NM_001258328.2:p.Arg155His/c.464G>A,cGt/cAt,MODERATE,COSM3756288(2),0.404752,0.3611,rs1801284,0.15(T),"0.002,0.001(B,B)",0.895(L),-0.9462(T),,chr19,1068738,1068738,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg155His/c.464G>A|1152|HMHA1|protein_coding|CODING|NM_001258328.2|2|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg139His/c.416G>A|1136|HMHA1|protein_coding|CODING|NM_012292.4|2|1)","CD4:H2BK5ac,GM12878:H3K4me3,CD4:DNase1,GM12878:H3K27ac,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,CD4:H3K4me3,CD4:H4K20me1,NH-A:H3K27me3,GM06990:H3K4me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K36me3,CD4:PolII,GM12878:H3K9ac,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3599,0.3862,0.3449,0.40,0.51,0.35,,0.853538(N),1.000(P),"2.0,2.01(T,T)",0.0000(T),0.051,-0.170620,4.22,-8.44,-3.258000,-4.781000,-1.052000,0.170000,0.000000,0.000000,16.3572
missense_variant,HMHA1,MISSENSE,NM_001282335.1:p.Pro9Ser/c.25C>T,Ccg/Tcg,MODERATE,,0.620407,0.4474,rs4807506,0.57(T),0.015(B),,-1.0211(T),,chr19,1071312,1071312,C,T,het,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro9Ser/c.25C>T|1019|HMHA1|protein_coding|CODING|NM_001282335.1|1|1),intron_variant(MODIFIER|||c.470-1836C>T|1152|HMHA1|protein_coding|CODING|NM_001258328.2|2|1),intron_variant(MODIFIER|||c.422-1836C>T|1136|HMHA1|protein_coding|CODING|NM_012292.4|2|1)","H1ESC:USF1,H1ESC:H3K9ac,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.5726,0.7853,0.6889,,,,,,1.000(P),2.07(T),0.0000(T),0.052,-0.009957,1.91,0.841,-0.291000,0.372000,-0.059000,0.004000,0.003000,0.000000,4.5329
missense_variant,HMHA1,MISSENSE,NM_001258328.2:p.Glu275Asp/c.825A>T,gaA/gaT,MODERATE,,0.776558,0.6498,rs2074442,0.74(T),"0.0,0.003,0.002,0.002(B,B,B,B)",1.78(L),-0.9462(T),,chr19,1074000,1074000,A,T,hom,"missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu275Asp/c.825A>T|1152|HMHA1|protein_coding|CODING|NM_001258328.2|6|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu142Asp/c.426A>T|1019|HMHA1|protein_coding|CODING|NM_001282335.1|5|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu259Asp/c.777A>T|1136|HMHA1|protein_coding|CODING|NM_012292.4|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,CD4:H3K4me1,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.6851,0.8415,0.7256,0.80,0.91,0.75,,0.733246(N),0.962(P),"2.03,2.05,2.06,2.0(T,T,T,T)",0.0000(T),0.07,0.060861,3.79,-1.37,-3.532000,-0.361000,-0.697000,0.002000,0.300000,0.333000,2.021
missense_variant,HMHA1,MISSENSE,NM_001258328.2:p.Ser455Gly/c.1363A>G,Agc/Ggc,MODERATE,,0.466653,0.3343,rs7251797,0.37(T),"0.003,0.002,0.002,0.001(B,B,B,B)",0.145(N),-1.0201(T),,chr19,1077985,1077985,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser74Gly/c.220A>G|771|HMHA1|protein_coding|CODING|NM_001282334.1|1|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser455Gly/c.1363A>G|1152|HMHA1|protein_coding|CODING|NM_001258328.2|11|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser322Gly/c.964A>G|1019|HMHA1|protein_coding|CODING|NM_001282335.1|10|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser439Gly/c.1315A>G|1136|HMHA1|protein_coding|CODING|NM_012292.4|11|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K36me3,CD4:H3K4me3,CD4:H4K20me1,HUVEC:DNase1,GM12878:PolII,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.3742,0.4164,0.3449,0.46,0.66,0.36,,0.044839(N),0.999(P),"1.92,1.92,1.95,1.89(T,T,T,T)",0.0000(T),0.035,-1.092908,4.64,1.24,-0.419000,-0.124000,1.998000,0.001000,0.000000,1.000000,6.9125
synonymous_variant,HMHA1,SILENT,NM_001258328.2:p.Pro603Pro/c.1809G>C,ccG/ccC,LOW,COSM438504(5),0.742212,0.6548,rs2074454,,,,,,chr19,1080311,1080311,G,C,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro603Pro/c.1809G>C|1152|HMHA1|protein_coding|CODING|NM_001258328.2|14|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro222Pro/c.666G>C|771|HMHA1|protein_coding|CODING|NM_001282334.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro470Pro/c.1410G>C|1019|HMHA1|protein_coding|CODING|NM_001282335.1|13|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro587Pro/c.1761G>C|1136|HMHA1|protein_coding|CODING|NM_012292.4|14|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6881,0.8487,0.7396,0.77,0.79,0.76,,,,,,,,,,,,,,,,
synonymous_variant,HMHA1,SILENT,NM_001258328.2:p.Gln769Gln/c.2307A>G,caA/caG,LOW,COSM3749456(6),0.760184,0.6607,rs10404947,,,,,,chr19,1081617,1081617,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln769Gln/c.2307A>G|1152|HMHA1|protein_coding|CODING|NM_001258328.2|18|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln388Gln/c.1164A>G|771|HMHA1|protein_coding|CODING|NM_001282334.1|8|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln636Gln/c.1908A>G|1019|HMHA1|protein_coding|CODING|NM_001282335.1|17|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln753Gln/c.2259A>G|1136|HMHA1|protein_coding|CODING|NM_012292.4|18|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.7004,0.8718,0.7783,0.80,0.80,0.80,,,,,,,,,,,,,,,,
synonymous_variant,HMHA1,SILENT,NM_001258328.2:p.Thr1140Thr/c.3420A>G,acA/acG,LOW,COSM438507(3),0.53095,0.3294,rs3761028,,,,,,chr19,1085966,1085966,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr1140Thr/c.3420A>G|1152|HMHA1|protein_coding|CODING|NM_001258328.2|23|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr759Thr/c.2277A>G|771|HMHA1|protein_coding|CODING|NM_001282334.1|13|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1007Thr/c.3021A>G|1019|HMHA1|protein_coding|CODING|NM_001282335.1|22|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr1124Thr/c.3372A>G|1136|HMHA1|protein_coding|CODING|NM_012292.4|23|1),downstream_gene_variant(MODIFIER||612||210|POLR2E|protein_coding|CODING|NM_002695.3||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.4683,0.6744,0.6352,0.61,0.57,0.62,,,,,,,,,,,,,,,,
missense_variant,POLR2E,MISSENSE,NM_002695.3:p.Ser44Phe/c.131C>T,tCt/tTt,MODERATE,,1,1,rs12459404,1(T),0.0(B),-2.92(N),-0.9753(T),,chr19,1094004,1094004,G,A,hom,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser44Phe/c.131C>T|210|POLR2E|protein_coding|CODING|NM_002695.3|2|1),"H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HepG2:ELF1,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HSMM:H3K79me2",,,,1,1,1,1.00,1.00,1.00,,0.000001(N),0.999(P),1.25(T),0.0000(T),0.211,-0.043633,3.64,3.64,-0.443000,0.491000,5.267000,0.701000,0.990000,1.000000,8.1699
missense_variant,C19orf26,MISSENSE,NM_152769.2:p.His371Arg/c.1112A>G,cAc/cGc,MODERATE,,0.651358,0.9911,rs8110590,0.69(T),0.001(B),0(N),-0.9861(T),,chr19,1231142,1231142,T,C,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His371Arg/c.1112A>G|453|C19orf26|protein_coding|CODING|NM_152769.2|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.6258,0.5389,0.4911,0.52,0.59,0.49,,0.057196(N),1.000(P),,0.0000(T),0.027,-2.131024,3.6,-0.0953,-1.605000,-0.106000,0.268000,0.141000,0.397000,0.030000,8.464
synonymous_variant,MIDN,SILENT,NM_177401.4:p.Asp378Asp/c.1134C>T,gaC/gaT,LOW,COSM438607(5),0.301917,0.4901,rs9823,,,,,,chr19,1256998,1256998,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp378Asp/c.1134C>T|468|MIDN|protein_coding|CODING|NM_177401.4|8|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.3272,0.3444,0.3479,0.27,0.12,0.34,,,,,,,,,,,,,,,,
synonymous_variant,CIRBP,SILENT,NM_001300829.1:p.Tyr164Tyr/c.492T>C,taT/taC,LOW,,0.800919,0.9673,rs12488,,,,,,chr19,1272040,1272040,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr164Tyr/c.492T>C|172|CIRBP|protein_coding|CODING|NM_001280.2|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr164Tyr/c.492T>C|168|CIRBP|protein_coding|CODING|NM_001300815.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr164Tyr/c.492T>C|297|CIRBP|protein_coding|CODING|NM_001300829.1|6|1),upstream_gene_variant(MODIFIER||1781|||CIRBP-AS1||NON_CODING|NR_027271.1||1),non_coding_exon_variant(MODIFIER|||n.702T>C||CIRBP||CODING|NR_023312.1|6|1),non_coding_exon_variant(MODIFIER|||n.534T>C||CIRBP||CODING|NR_023313.1|5|1)","H1ESC:PolII,H1ESC:H3K36me3,K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,K562:H3K9ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,K562:H3K4me2,K562:DNase1",,,,0.7802,0.8242,0.7952,0.74,0.69,0.77,,,,,,,,,,,,,,,,
synonymous_variant,C19orf24,SILENT,NM_017914.3:p.Val125Val/c.375G>C,gtG/gtC,LOW,COSM438617(3),0.850639,0.9722,rs757292,,,,,,chr19,1277275,1277275,G,C,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val125Val/c.375G>C|132|C19orf24|protein_coding|CODING|NM_017914.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7975,0.8833,0.8131,0.79,0.81,0.79,,,,,,,,,,,,,,,,
synonymous_variant,MUM1,SILENT,NM_032853.3:p.Ser45Ser/c.135T>C,tcT/tcC,LOW,COSM4000524(2),0.71266,0.5565,rs713042,,,,,,chr19,1357082,1357082,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser45Ser/c.135T>C|711|MUM1|protein_coding|CODING|NM_032853.3|3|1),non_coding_exon_variant(MODIFIER|||n.201T>C||MUM1||CODING|NR_024247.1|2|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7444,0.755,0.7684,0.78,0.75,0.80,,,,,,,,,,,,,,,,
missense_variant,MUM1,MISSENSE,NM_032853.3:p.Gly220Arg/c.658G>A,Gga/Aga,MODERATE,,0.672923,0.5149,rs3826942,0.82(T),"0.0,0.0(B,B)",-1.1(N),-1.0035(T),,chr19,1360575,1360575,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly220Arg/c.658G>A|711|MUM1|protein_coding|CODING|NM_032853.3|5|1),non_coding_exon_variant(MODIFIER|||n.837G>A||MUM1||CODING|NR_024247.1|5|1)","H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7311,0.7349,0.7187,0.73,0.69,0.76,,0.253470(N),1.000(P),"1.78,1.78,1.78(T,T,T)",0.0000(T),0.041,-1.444469,4.25,-0.31,-1.007000,-0.289000,0.389000,0.000000,0.000000,0.004000,0.8159
synonymous_variant,MUM1,SILENT,NM_032853.3:p.Val529Val/c.1587C>G,gtC/gtG,LOW,COSM438690(5),0.328275,0.369,rs12608765,,,,,,chr19,1370675,1370675,C,G,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val529Val/c.1587C>G|711|MUM1|protein_coding|CODING|NM_032853.3|12|1),non_coding_exon_variant(MODIFIER|||n.1766C>G||MUM1||CODING|NR_024247.1|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4305,0.3963,0.496,0.36,0.13,0.47,,,,,,,,,,,,,,,,
missense_variant,NDUFS7,MISSENSE,NM_024407.4:p.Pro23Leu/c.68C>T,cCg/cTg,MODERATE,COSM4131259(1),0.455671,0.3264,rs1142530,0.49(T),"0.001,0.001,0.0(B,B,B)",0(N),-0.9187(T),,chr19,1388538,1388538,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro23Leu/c.68C>T|213|NDUFS7|protein_coding|CODING|NM_024407.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117716.2,,0.5562,0.4813,0.5974,0.54,0.38,0.62,,0.640146(U),1.000(P),"0.07,0.11,0.09,0.07,-0.07(T,T,T,T,T)",0.0000(T),0.135,0.551973,4.25,0.837,0.561000,0.164000,0.885000,0.004000,0.000000,0.000000,4.5671
synonymous_variant,APC2,SILENT,NM_005883.2:p.Arg1462Arg/c.4384A>C,Aga/Cga,LOW,COSM4131288(1),0.975839,1,rs265273,,,,,,chr19,1467684,1467684,A,C,hom,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg1462Arg/c.4384A>C|2303|APC2|protein_coding|CODING|NM_005883.2|15|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.9847,0.9424,0.9374,,,,,,,,,,,,,,,,,,,
synonymous_variant,APC2,SILENT,NM_005883.2:p.Arg1486Arg/c.4456C>A,Cgg/Agg,LOW,,,,,,,,,,chr19,1467756,1467756,C,A,het,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg1486Arg/c.4456C>A|2303|APC2|protein_coding|CODING|NM_005883.2|15|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTSL5,SILENT,NM_213604.2:p.Ser56Ser/c.168T>C,tcT/tcC,LOW,COSM3756385(4),0.935703,0.999,rs265291,,,,,,chr19,1510661,1510661,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser56Ser/c.168T>C|471|ADAMTSL5|protein_coding|CODING|NM_213604.2|3|1),"HeLa-S3:DNase1,HUVEC:H3K27me3,IMR90:H3K36me3,HeLa-S3:Ap2alpha,NHEK:H3K36me3,HeLa-S3:Ap2gamma",,,,0.9417,0.928,0.9036,0.93,0.93,0.93,,,,,,,,,,,,,,,,
missense_variant,PLK5,MISSENSE,NM_001243079.1:p.Leu253Val/c.757C>G,Ctc/Gtc,MODERATE,,0.40595,0.625,rs11084897,,,,,,chr19,1533972,1533972,C,G,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu253Val/c.757C>G|336|PLK5|protein_coding|CODING|NM_001243079.1|13|1),"K562:USF1,HepG2:H3K27me3",,,,0.5194,0.3732,0.2177,,,,,,,,,,,,,,,,,,,
splice_donor_variant,PLK5,protein_coding,NM_001243079.1:c.826T>C,,HIGH,,0.40635,0.626,rs10853954,,,,,PLK5:1.00(1);,chr19,1534042,1534042,T,C,het,"splice_donor_variant(HIGH|||c.826T>C|336|PLK5|protein_coding|CODING|NM_001243079.1|13|1),intron_variant(MODIFIER|||c.825+2T>C|336|PLK5|protein_coding|CODING|NM_001243079.1|13|1)","K562:USF1,HepG2:H3K27me3",,,,0.5194,0.3732,0.2177,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLK5,SILENT,NM_001243079.1:p.Pro282Pro/c.846G>A,ccG/ccA,LOW,COSM1480705(1),0.407748,0.629,rs12984316,,,,,,chr19,1535084,1535084,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro282Pro/c.846G>A|336|PLK5|protein_coding|CODING|NM_001243079.1|14|1),,,,,0.5225,0.3732,0.2167,,,,,,,,,,,,,,,,,,,
missense_variant,PLK5,MISSENSE,NM_001243079.1:p.Gly323Arg/c.967G>C,Gga/Cga,MODERATE,,0.507788,0.629,rs265282,,,,,,chr19,1535205,1535205,G,C,het,missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly323Arg/c.967G>C|336|PLK5|protein_coding|CODING|NM_001243079.1|14|1),,,,,0.5215,0.3991,0.2207,,,,,,,,,,,,,,,,,,,
synonymous_variant,TCF3,SILENT,NM_003200.3:p.Gly436Gly/c.1308C>T,ggC/ggT,LOW,COSM3749471(6),0.235423,0.2897,rs1140828,,,,,,chr19,1619333,1619333,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly436Gly/c.1308C>T|651|TCF3|protein_coding|CODING|NM_001136139.2|14|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly436Gly/c.1308C>T|654|TCF3|protein_coding|CODING|NM_003200.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1922,0.2435,0.3032,0.27,0.18,0.31,,,,,,,,,,,,,,,,
synonymous_variant,TCF3,SILENT,NM_003200.3:p.Ser434Ser/c.1302A>G,tcA/tcG,LOW,COSM3749472(1),0.623802,0.8839,rs8140,,,,,,chr19,1619339,1619339,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser434Ser/c.1302A>G|651|TCF3|protein_coding|CODING|NM_001136139.2|14|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser434Ser/c.1302A>G|654|TCF3|protein_coding|CODING|NM_003200.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4949,0.5187,0.3658,0.49,0.69,0.39,,,,,,,,,,,,,,,,
synonymous_variant,TCF3,SILENT,NM_003200.3:p.Gly431Gly/c.1293C>T,ggC/ggT,LOW,,0.107029,0.254,rs1052696,,,,,,chr19,1619348,1619348,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly431Gly/c.1293C>T|651|TCF3|protein_coding|CODING|NM_001136139.2|14|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly431Gly/c.1293C>T|654|TCF3|protein_coding|CODING|NM_003200.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1329,0.0432,0.0706,0.05,0.04,0.06,,,,,,,,,,,,,,,,
missense_variant,TCF3,MISSENSE,NM_003200.3:p.Gly431Ser/c.1291G>A,Ggc/Agc,MODERATE,,0.11262,0.254,rs1052692,0.37(T),"0.056,0.069,0.014,0.011(B,B,B,B)",1.515(L),-1.0319(T),,chr19,1619350,1619350,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly431Ser/c.1291G>A|651|TCF3|protein_coding|CODING|NM_001136139.2|14|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly431Ser/c.1291G>A|654|TCF3|protein_coding|CODING|NM_003200.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1319,0.0476,0.0716,0.06,0.05,0.06,,0.012425(N),1.000(P),"0.37,0.37,0.37(T,T,T)",0.0000(T),0.254,1.740783,4.29,-0.72,-0.258000,0.264000,-1.118000,0.007000,0.031000,0.000000,4.654
synonymous_variant,ATP8B3,SILENT,NM_138813.3:p.Lys1223Lys/c.3669G>A,aaG/aaA,LOW,COSM3756479(2),0.301118,0.3095,rs2385387,,,,,,chr19,1783261,1783261,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1186Lys/c.3558G>A|1263|ATP8B3|protein_coding|CODING|NM_001178002.2|29|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1223Lys/c.3669G>A|1300|ATP8B3|protein_coding|CODING|NM_138813.3|29|1),non_coding_exon_variant(MODIFIER|||n.4052G>A||ATP8B3||CODING|NR_047593.2|29|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3599,0.3343,0.4105,0.34,0.17,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ATP8B3,SILENT,NM_138813.3:p.Ser1196Ser/c.3588T>C,agT/agC,LOW,COSM3756482(2),0.429313,0.3155,rs3764605,,,,,,chr19,1784890,1784890,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser1159Ser/c.3477T>C|1263|ATP8B3|protein_coding|CODING|NM_001178002.2|28|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser1196Ser/c.3588T>C|1300|ATP8B3|protein_coding|CODING|NM_138813.3|28|1),non_coding_exon_variant(MODIFIER|||n.3971T>C||ATP8B3||CODING|NR_047593.2|28|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4407,0.3934,0.4563,0.48,0.49,0.47,,,,,,,,,,,,,,,,
synonymous_variant,ATP8B3,SILENT,NM_138813.3:p.Gln883Gln/c.2649G>A,caG/caA,LOW,COSM3749490(13),0.309704,0.4395,rs12978609,,,,,,chr19,1789556,1789556,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln846Gln/c.2538G>A|1263|ATP8B3|protein_coding|CODING|NM_001178002.2|23|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln883Gln/c.2649G>A|1300|ATP8B3|protein_coding|CODING|NM_138813.3|23|1),non_coding_exon_variant(MODIFIER|||n.3032G>A||ATP8B3||CODING|NR_047593.2|23|1)","H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.2658,0.2882,0.2515,0.25,0.28,0.24,,,,,,,,,,,,,,,,
missense_variant,ATP8B3,MISSENSE,NM_138813.3:p.Val618Ile/c.1852G>A,Gtc/Atc,MODERATE,COSM4131440(1),0.266374,0.5784,rs8100856,1(T),"0.0,0.005(B,B)",-1.09(N),-0.9073(T),,chr19,1796166,1796166,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val571Ile/c.1711G>A|1263|ATP8B3|protein_coding|CODING|NM_001178002.2|17|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val618Ile/c.1852G>A|1300|ATP8B3|protein_coding|CODING|NM_138813.3|17|1),non_coding_exon_variant(MODIFIER|||n.2318G>A||ATP8B3||CODING|NR_047593.2|17|1)","K562:ZBTB7A,NHEK:CTCF,K562:H3K4me3,H1ESC:USF1,HeLa-S3:DNase1,K562:PolII,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HepG2:USF1,HeLa-S3:CTCF,HUVEC:DNase1,K562:USF1,HMEC:CTCF,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,K562:H2AZ,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.1779,0.3617,0.1451,0.15,0.14,0.15,,0.000190(N),0.000(P),"0.44,0.44,0.44(T,T,T)",0.0000(T),0.042,-0.637173,4.8,3.77,-0.361000,0.281000,1.856000,0.260000,0.980000,1.000000,8.725
synonymous_variant,ATP8B3,SILENT,NM_138813.3:p.Pro63Pro/c.189T>C,ccT/ccC,LOW,COSM4131451(1),0.829673,0.7758,rs12609187,,,,-1.0457(T),,chr19,1811547,1811547,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro10Pro/c.30T>C|1263|ATP8B3|protein_coding|CODING|NM_001178002.2|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro63Pro/c.189T>C|1300|ATP8B3|protein_coding|CODING|NM_138813.3|2|1),intron_variant(MODIFIER|||n.375+53T>C||ATP8B3||CODING|NR_047593.2|2|1)","HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,K562:Cfos,HUVEC:DNase1,NH-A:DNase1,K562:Cjun,K562:FOSL1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:FOSL2,HeLa-S3:Cfos,HepG2:DNase1,HMEC:DNase1,HepG2:Jund,K562:H3K4me2,NHEK:DNase1,K562:DNase1",,,,0.771,0.853,0.826,0.86,0.90,0.84,,,1.000(P),,0.0000(T),.,0.390398,2.42,1.37,-0.215000,0.142000,1.533000,0.001000,0.000000,0.061000,4.6624
missense_variant,ATP8B3,MISSENSE,NM_138813.3:p.Gly45Arg/c.133G>A,Gga/Aga,MODERATE,COSM3756486(2),0.396166,0.374,rs7250872,0.08(T),0.003(B),0(N),-0.9540(T),,chr19,1811603,1811603,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly45Arg/c.133G>A|1300|ATP8B3|protein_coding|CODING|NM_138813.3|2|1),5_prime_UTR_variant(MODIFIER||27|c.-27G>A|1263|ATP8B3|protein_coding|CODING|NM_001178002.2|2|1),non_coding_exon_variant(MODIFIER|||n.372G>A||ATP8B3||CODING|NR_047593.2|2|1)","HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,HeLa-S3:Jund,HeLa-S3:Max,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,K562:Cfos,HUVEC:DNase1,NH-A:DNase1,K562:Cjun,K562:FOSL1,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:FOSL2,HeLa-S3:Cfos,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HepG2:Jund,K562:H3K4me2,NHEK:DNase1,K562:DNase1",Bipolar_disorder,,,0.317,0.4481,0.3141,0.35,0.46,0.30,,,1.000(P),"-0.84,-0.84(T,T)",0.0000(T),0.119,2.353566,2.42,1.37,-0.258000,0.589000,-0.497000,0.004000,0.003000,0.000000,5.1659
missense_variant,REXO1,MISSENSE,NM_020695.3:p.Ser759Pro/c.2275T>C,Tcc/Ccc,MODERATE,,0.764177,0.7649,rs4807145,0.43(T),0.001(B),-1.245(N),-1.0219(T),,chr19,1821637,1821637,A,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser759Pro/c.2275T>C|1221|REXO1|protein_coding|CODING|NM_020695.3|5|1),upstream_gene_variant(MODIFIER||451|||LOC100288123||NON_CODING|NR_034114.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7229,0.8055,0.7247,0.76,0.79,0.75,,0.868688(N),1.000(P),1.73(T),0.0000(T),0.021,-1.137841,4.5,2.13,-0.215000,0.473000,0.446000,0.073000,0.478000,0.000000,8.8215
missense_variant,REXO1,MISSENSE,NM_020695.3:p.Ser39Pro/c.115T>C,Tcc/Ccc,MODERATE,COSM4131472(2),0.79373,0.7599,rs12984809,0.49(T),0.0(B),-1.06(N),-1.0337(T),,chr19,1848243,1848243,A,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser39Pro/c.115T>C|1221|REXO1|protein_coding|CODING|NM_020695.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.7556,0.8141,0.7286,,,,,0.849857(N),1.000(P),2.73(T),0.0000(T),0.109,0.301969,3.69,3.69,-0.307000,0.769000,0.751000,0.725000,0.677000,0.383000,7.2247
missense_variant,ABHD17A,MISSENSE,NM_031213.3:p.Lys144Glu/c.430A>G,Aag/Gag,MODERATE,COSM438982(3),0.63099,0.5913,rs4807160,0.91(T),0.0(B),,-0.9788(T),,chr19,1880950,1880950,T,C,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys144Glu/c.430A>G|361|ABHD17A|protein_coding|CODING|NM_031213.3|3|1),intron_variant(MODIFIER|||c.332+284A>G|310|ABHD17A|protein_coding|CODING|NM_001130111.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6616,0.6686,0.6243,0.63,0.65,0.63,,0.000036(N),1.000(P),1.53(T),0.0000(T),0.015,-1.315169,2.47,-4.94,-0.231000,-1.995000,-0.878000,0.004000,0.000000,0.002000,6.6701
synonymous_variant,MOB3A,SILENT,NM_130807.2:p.Ala128Ala/c.384G>A,gcG/gcA,LOW,COSM3756530(1),0.0345447,0.001,rs35452475,,,,,,chr19,2078176,2078176,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala128Ala/c.384G>A|217|MOB3A|protein_coding|CODING|NM_130807.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.09,0.0274,0.0616,0.05,0.01,0.07,,,,,,,,,,,,,,,,
synonymous_variant,MOB3A,SILENT,NM_130807.2:p.Leu51Leu/c.151T>C,Ttg/Ctg,LOW,COSM3756532(2),0.407748,0.1964,rs2074893,,,,,,chr19,2078409,2078409,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu51Leu/c.151T>C|217|MOB3A|protein_coding|CODING|NM_130807.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4243,0.2579,0.3618,0.44,0.64,0.35,,,,,,,,,,,,,,,,
synonymous_variant,MOB3A,SILENT,NM_130807.2:p.Pro24Pro/c.72A>G,ccA/ccG,LOW,COSM1564603(2),0.39397,0.1835,rs2074894,,,,,,chr19,2078488,2078488,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro24Pro/c.72A>G|217|MOB3A|protein_coding|CODING|NM_130807.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4294,0.2507,0.329,0.44,0.63,0.34,,,,,,,,,,,,,,,,
missense_variant,IZUMO4,MISSENSE,NM_001039846.1:p.Tyr137Phe/c.410A>T,tAc/tTc,MODERATE,,0.0107827,0,rs45506200,0(D),"0.824,0.824(P,P)",0.805(L),-1.1359(T),,chr19,2098063,2098063,A,T,het,"missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr137Phe/c.410A>T|214|IZUMO4|protein_coding|CODING|NM_001031735.2|5|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr137Phe/c.410A>T|232|IZUMO4|protein_coding|CODING|NM_001039846.1|5|1),upstream_gene_variant(MODIFIER||1794||217|MOB3A|protein_coding|CODING|NM_130807.2||1)","GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3",,,,0.0082,0.0187,0.0298,0.02,0.00,0.03,,0.002950(N),1.000(D),"1.93,1.93,1.93(T,T,T)",0.0234(T),0.283,3.028079,3.7,2.67,0.459000,1.617000,1.815000,0.976000,0.937000,0.911000,4.9318
missense_variant,AP3D1,MISSENSE,NM_001261826.1:p.Ile1134Val/c.3400A>G,Atc/Gtc,MODERATE,,0.0778754,0,rs25673,0.5(T),"0.001,0.002,0.001,0.001(B,B,B,B)",1.6(L),-1.0303(T),,chr19,2109157,2109157,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1134Val/c.3400A>G|1215|AP3D1|protein_coding|CODING|NM_001261826.1|30|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile1072Val/c.3214A>G|1153|AP3D1|protein_coding|CODING|NM_003938.6|28|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.0677,0.1153,0.14,0.09,0.16,,0.004080(N),0.999(P),"0.87,0.87,0.87,0.87(T,T,T,T)",0.0003(T),0.032,-1.603914,4.4,-5.88,-2.245000,-1.861000,-0.827000,0.233000,0.003000,0.000000,7.6107
synonymous_variant,AP3D1,SILENT,NM_001261826.1:p.Ser1045Ser/c.3135C>T,tcC/tcT,LOW,,0.32508,0.3333,rs20567,,,,,,chr19,2110746,2110746,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1045Ser/c.3135C>T|1215|AP3D1|protein_coding|CODING|NM_001261826.1|27|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser983Ser/c.2949C>T|1153|AP3D1|protein_coding|CODING|NM_003938.6|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3119,0.2075,0.1968,0.30,0.45,0.22,,,,,,,,,,,,,,,,
synonymous_variant,AP3D1,SILENT,NM_001261826.1:p.Lys850Lys/c.2550A>G,aaA/aaG,LOW,,0.077476,0,rs55698722,,,,,,chr19,2114175,2114175,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys850Lys/c.2550A>G|1215|AP3D1|protein_coding|CODING|NM_001261826.1|22|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys850Lys/c.2550A>G|1153|AP3D1|protein_coding|CODING|NM_003938.6|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0677,0.1153,0.13,0.08,0.15,,,,,,,,,,,,,,,,
synonymous_variant,AP3D1,SILENT,NM_001261826.1:p.Arg652Arg/c.1956T>C,cgT/cgC,LOW,,0.163339,0.1944,rs2074960,,,,,,chr19,2116649,2116649,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg652Arg/c.1956T>C|1215|AP3D1|protein_coding|CODING|NM_001261826.1|17|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg652Arg/c.1956T>C|1153|AP3D1|protein_coding|CODING|NM_003938.6|17|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1922,0.1311,0.17,0.17,0.13,0.19,,,,,,,,,,,,,,,,
missense_variant,AP3D1,MISSENSE,NM_001261826.1:p.Gly541Arg/c.1621G>A,Ggg/Agg,MODERATE,,0.0758786,0,rs34569645,0.53(T),"0.186,0.039,0.074(B,B,B)",2.42(M),-1.0406(T),,chr19,2118692,2118692,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly541Arg/c.1621G>A|1215|AP3D1|protein_coding|CODING|NM_001261826.1|15|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly541Arg/c.1621G>A|1153|AP3D1|protein_coding|CODING|NM_003938.6|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0648,0.1123,0.13,0.09,0.16,,0.803654(N),1.000(P),"1.74,1.74,1.74,1.74(T,T,T,T)",0.0003(T),0.084,-0.247155,4.82,2.61,-0.314000,0.421000,2.416000,0.001000,0.000000,0.011000,12.6731
synonymous_variant,AP3D1,SILENT,NM_001261826.1:p.Ile52Ile/c.156A>C,atA/atC,LOW,COSM4131539(1),0.236422,0.1994,rs25672,,,,,,chr19,2138654,2138654,T,G,het,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile52Ile/c.156A>C|1215|AP3D1|protein_coding|CODING|NM_001261826.1|2|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile52Ile/c.156A>C|1153|AP3D1|protein_coding|CODING|NM_003938.6|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1881,0.2911,0.4453,0.34,0.16,0.43,,,,,,,,,,,,,,,,
missense_variant,DOT1L,MISSENSE,NM_032482.2:p.Gly1386Ser/c.4156G>A,Ggc/Agc,MODERATE,COSM3749491(15),0.225639,0.1825,rs3815308,0(D),"0.003,0.008(B,B)",0.55(N),-0.9201(T),,chr19,2226676,2226676,G,A,hom,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1386Ser/c.4156G>A|1537|DOT1L|protein_coding|CODING|NM_032482.2|27|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2188,0.3069,0.4692,0.32,0.09,0.43,,0.751980(N),1.000(P),"2.06,1.61(T,T)",0.0000(T),0.028,-1.555274,4.28,0.43,-1.134000,-0.020000,1.858000,0.002000,0.007000,0.363000,10.6441
missense_variant,AMH,MISSENSE,NM_000479.3:p.Ser49Ile/c.146G>T,aGc/aTc,MODERATE,COSM4131575(1),0.675919,0.5863,rs10407022,0.04(D),0.367(B),0.805(L),-0.9507(T),,chr19,2249477,2249477,G,T,hom,"missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser49Ile/c.146G>T|560|AMH|protein_coding|CODING|NM_000479.3|1|1),upstream_gene_variant(MODIFIER||1161|||MIR4321||NON_CODING|NR_036207.1||1),downstream_gene_variant(MODIFIER||799||464|SF3A2|protein_coding|CODING|NM_007165.4||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8129,0.696,0.8201,0.74,0.56,0.83,,0.382842(U),1.000(P),-1.76(D),0.0000(T),0.104,1.981043,3.75,2.69,0.462000,0.554000,2.143000,0.050000,0.001000,0.032000,10.9176
synonymous_variant,AMH,SILENT,NM_000479.3:p.Gly413Gly/c.1239T>A,ggT/ggA,LOW,COSM1742751(2),0.91893,0.9683,rs7252789,,,,,,chr19,2251512,2251512,T,A,hom,"synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly413Gly/c.1239T>A|560|AMH|protein_coding|CODING|NM_000479.3|5|1),downstream_gene_variant(MODIFIER||738||331|JSRP1|protein_coding|CODING|NM_144616.3||1),downstream_gene_variant(MODIFIER||795|||MIR4321||NON_CODING|NR_036207.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3",,,,0.819,0.951,0.9354,,,,,,,,,,,,,,,,,,,
missense_variant,AMH,MISSENSE,NM_000479.3:p.Val515Ala/c.1544T>C,gTc/gCc,MODERATE,COSM3756562(6),0.990016,1,rs10417628,0.77(T),0.001(B),-0.455(N),-0.9934(T),,chr19,2251817,2251817,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val515Ala/c.1544T>C|560|AMH|protein_coding|CODING|NM_000479.3|5|1),downstream_gene_variant(MODIFIER||433||331|JSRP1|protein_coding|CODING|NM_144616.3||1),downstream_gene_variant(MODIFIER||1100|||MIR4321||NON_CODING|NR_036207.1||1)","H1ESC:H3K36me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,NH-A:H3K27me3,HUVEC:DNase1,NH-A:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9693,0.9928,0.9851,0.98,1.00,0.97,,0.889132(N),1.000(P),-0.39(T),0.0000(T),0.031,0.460903,3.73,1.04,-0.701000,0.112000,1.364000,0.535000,0.872000,0.914000,6.4913
missense_variant,JSRP1,MISSENSE,NM_144616.3:p.Gly150Ala/c.449G>C,gGg/gCg,MODERATE,,0.179513,0.3234,rs80043033,0.48(T),0.248(B),0.895(L),-1.0018(T),,chr19,2252990,2252990,C,G,het,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly150Ala/c.449G>C|331|JSRP1|protein_coding|CODING|NM_144616.3|6|1),downstream_gene_variant(MODIFIER||918||560|AMH|protein_coding|CODING|NM_000479.3||1)","HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1",,,,0.1933,0.1916,0.2376,0.15,0.04,0.20,,0.365988(N),1.000(P),0.29(T),0.0000(T),0.061,2.849180,3.88,2.73,0.561000,2.169000,1.062000,0.007000,0.007000,0.009000,8.7648
missense_variant,JSRP1,MISSENSE,NM_144616.3:p.Val92Ala/c.275T>C,gTc/gCc,MODERATE,COSM3756563(1),0.204872,0.0734,rs10426549,0.47(T),0.0(B),-0.205(N),-0.9108(T),,chr19,2253780,2253780,A,G,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val92Ala/c.275T>C|331|JSRP1|protein_coding|CODING|NM_144616.3|5|1),downstream_gene_variant(MODIFIER||1708||560|AMH|protein_coding|CODING|NM_000479.3||1)","CD4:H3K9me1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1299,0.072,0.0845,0.10,0.22,0.05,,0.287865(N),0.999(P),2.2(T),0.0000(T),0.016,-1.492342,3.74,0.0998,-0.930000,-0.634000,-0.186000,0.036000,0.427000,0.001000,4.6604
missense_variant,JSRP1,MISSENSE,NM_144616.3:p.Gly45Ser/c.133G>A,Ggc/Agc,MODERATE,,0.0367412,0,rs35121757,0.78(T),0.005(B),0(N),-0.9740(T),,chr19,2254458,2254458,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly45Ser/c.133G>A|331|JSRP1|protein_coding|CODING|NM_144616.3|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.0348,0.0274,0.0596,0.06,0.05,0.06,,0.554076(N),1.000(N),2.48(T),0.0015(T),0.023,0.045141,3.23,1.13,-0.367000,0.180000,-0.075000,0.027000,0.004000,0.001000,4.7011
missense_variant,C19orf35,MISSENSE,NM_198532.2:p.Arg147His/c.440G>A,cGt/cAt,MODERATE,COSM3756568(1),0.356629,0.5496,rs73518414,0.01(D),0.001(B),2.045(M),-0.9704(T),,chr19,2278755,2278755,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg147His/c.440G>A|473|C19orf35|protein_coding|CODING|NM_198532.2|3|1),"K562:PolII,IMR90:H3K36me3,GM12878:PolII,HepG2:DNase1",,,,0.3364,0.4078,0.1312,0.18,0.30,0.12,,,1.000(P),2.32(T),0.0000(T),0.06,1.747421,4.16,0.647,-0.860000,-0.088000,0.208000,0.029000,0.000000,0.000000,4.7369
missense_variant,LINGO3,MISSENSE,NM_001101391.1:p.Arg426His/c.1277G>A,cGc/cAc,MODERATE,,0.28754,0.3363,rs7258841,0.67(T),0.007(B),0.23(N),-1.0034(T),,chr19,2290499,2290499,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg426His/c.1277G>A|592|LINGO3|protein_coding|CODING|NM_001101391.1|2|1),"H1ESC:H3K36me3,CD4:H3K18ac,K562:PolII,HUVEC:H3K27me3,GM12878:H3K4me3,CD4:H4K91ac,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.2699,0.2536,0.1292,,,,,,0.917(P),-0.34(T),0.0000(T),0.194,0.961929,4.12,2.99,0.462000,1.852000,0.931000,0.779000,1.000000,0.985000,10.7018
synonymous_variant,SPPL2B,SILENT,NM_152988.2:p.Tyr242Tyr/c.726T>C,taT/taC,LOW,,0.621006,0.3323,rs3746285,,,,,,chr19,2339949,2339949,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr242Tyr/c.726T>C|510|SPPL2B|protein_coding|CODING|NM_001077238.1|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr242Tyr/c.726T>C|591|SPPL2B|protein_coding|CODING|NM_152988.2|6|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5706,0.6182,0.7336,0.78,0.81,0.76,,,,,,,,,,,,,,,,
synonymous_variant,SPPL2B,SILENT,NM_152988.2:p.Asp245Asp/c.735T>C,gaT/gaC,LOW,,0.980032,0.9683,rs1609752,,,,,,chr19,2339958,2339958,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp245Asp/c.735T>C|510|SPPL2B|protein_coding|CODING|NM_001077238.1|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp245Asp/c.735T>C|591|SPPL2B|protein_coding|CODING|NM_152988.2|6|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9775,0.9798,0.9692,0.97,0.99,0.96,,,,,,,,,,,,,,,,
missense_variant,TMPRSS9,MISSENSE,NM_182973.1:p.Ser30Thr/c.89G>C,aGc/aCc,MODERATE,COSM4131580(1),0.583466,0.4474,rs891174,0.37(T),"0.0,0.0(B,B)",0(N),-0.9449(T),,chr19,2389872,2389872,G,C,hom,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser30Thr/c.89G>C|1059|TMPRSS9|protein_coding|CODING|NM_182973.1|1|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6493,0.4352,0.666,0.65,0.61,0.67,,0.999340(N),1.000(P),-2.23(D),0.0000(T),0.042,0.903904,4.39,1.09,-1.221000,-0.342000,0.436000,0.000000,0.000000,0.000000,4.1209
synonymous_variant,TMPRSS9,SILENT,NM_182973.1:p.His364His/c.1092T>C,caT/caC,LOW,,0.392971,0.3581,rs3848635,,,,,,chr19,2410332,2410332,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His364His/c.1092T>C|1059|TMPRSS9|protein_coding|CODING|NM_182973.1|8|1),"H1ESC:H3K27me3,HeLa-S3:PolII,NHEK:H3K27me3",,,,0.3763,0.2896,0.2575,0.36,0.56,0.27,,,,,,,,,,,,,,,,
synonymous_variant,TMPRSS9,SILENT,NM_182973.1:p.Ile410Ile/c.1230C>T,atC/atT,LOW,,0.0283546,0,rs10153477,,,,,,chr19,2413775,2413775,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile410Ile/c.1230C>T|1059|TMPRSS9|protein_coding|CODING|NM_182973.1|9|1),"K562:PolII,HeLa-S3:PolII,GM12878:PolII",,,,0.0378,0.0288,0.0487,0.04,0.03,0.04,,,,,,,,,,,,,,,,
missense_variant,TMPRSS9,MISSENSE,NM_182973.1:p.Ala456Thr/c.1366G>A,Gcc/Acc,MODERATE,,0.028754,0,rs10153474,0.66(T),"0.012,0.001(B,B)",0.895(L),-0.9118(T),,chr19,2413911,2413911,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala456Thr/c.1366G>A|1059|TMPRSS9|protein_coding|CODING|NM_182973.1|9|1),"H1ESC:H3K36me3,K562:PolII,HeLa-S3:PolII,GM12878:PolII",,,,0.0378,0.0288,0.0487,0.04,0.03,0.04,,0.460537(U),1.000(N),-2.28(D),0.0765(T),0.03,0.618635,3.78,-2.14,0.306000,-0.335000,-0.627000,0.081000,0.001000,0.000000,5.3967
synonymous_variant,TMPRSS9,SILENT,NM_182973.1:p.Ser472Ser/c.1416G>C,tcG/tcC,LOW,COSM439139(2),0.393171,0.374,rs10153475,,,,,,chr19,2413961,2413961,G,C,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser472Ser/c.1416G>C|1059|TMPRSS9|protein_coding|CODING|NM_182973.1|9|1),"H1ESC:H3K36me3,K562:PolII,HeLa-S3:PolII,GM12878:PolII",,,,0.3528,0.2925,0.2594,0.37,0.57,0.26,,,,,,,,,,,,,,,,
missense_variant,TMPRSS9,MISSENSE,NM_182973.1:p.Gln635Arg/c.1904A>G,cAg/cGg,MODERATE,,0.0309505,0,rs45546534,0.55(T),0.038(B),-0.175(N),-0.9939(T),,chr19,2416796,2416796,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln635Arg/c.1904A>G|1059|TMPRSS9|protein_coding|CODING|NM_182973.1|11|1),"H1ESC:H3K36me3,HepG2:Gabp,K562:PolII,HepG2:ELF1,HepG2:p300,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HepG2:PolII,HepG2:SP1,HepG2:HEY1,IMR90:H3K36me3,HeLa-S3:PolII,HepG2:HNF4A,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3",,,,0.0378,0.0288,0.0517,0.04,0.04,0.04,,0.009159(N),1.000(N),-2.34(D),0.0597(T),0.11,-0.754063,5.17,4.15,0.397000,0.822000,0.808000,0.056000,0.999000,0.000000,9.6121
missense_variant,TMPRSS9,MISSENSE,NM_182973.1:p.Pro933His/c.2798C>A,cCc/cAc,MODERATE,,,,rs370527457,0(D),1.0(D),3.74(H),1.0965(D),,chr19,2425182,2425182,C,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cAc|p.Pro933His/c.2798C>A|1059|TMPRSS9|protein_coding|CODING|NM_182973.1|15|1),downstream_gene_variant(MODIFIER||440||95|TIMM13|protein_coding|CODING|NM_012458.3||1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.001678(N),1.000(D),-3.81(D),0.9455(D),0.802,3.269584,3.84,3.84,0.462000,1.699000,5.263000,0.077000,1.000000,1.000000,14.3161
synonymous_variant,LMNB2,SILENT,NM_032737.3:p.Gly472Gly/c.1416T>C,ggT/ggC,LOW,COSM439143(4),0.63758,0.6349,rs11084940,,,,,,chr19,2433890,2433890,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly472Gly/c.1416T>C|620|LMNB2|protein_coding|CODING|NM_032737.3|8|1),downstream_gene_variant(MODIFIER||1022|||MIR7108||NON_CODING|NR_106958.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117495.2,,0.5399,0.6643,0.4374,0.57,0.80,0.45,,,,,,,,,,,,,,,,
synonymous_variant,DIRAS1,SILENT,NM_145173.3:p.Gly183Gly/c.549G>C,ggG/ggC,LOW,,0.197284,0.494,rs3745812,,,,,,chr19,2717256,2717256,C,G,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly183Gly/c.549G>C|198|DIRAS1|protein_coding|CODING|NM_145173.3|2|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1769,0.2277,0.1362,0.11,0.04,0.15,,,,,,,,,,,,,,,,
missense_variant,ZNF554,MISSENSE,NM_001102651.1:p.Glu190Gly/c.569A>G,gAg/gGg,MODERATE,,0.229633,0.4425,rs386617916,0.38(T),0.002(B),0.895(L),-0.9048(T),,chr19,2833802,2833802,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu190Gly/c.569A>G|538|ZNF554|protein_coding|CODING|NM_001102651.1|5|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1779,0.4164,0.2127,0.13,0.05,0.18,,,1.000(P),3.05(T),0.0000(T),0.032,0.964366,2.57,1.39,0.448000,1.200000,.,0.028000,0.025000,.,1.8775
missense_variant,ZNF554,MISSENSE,NM_001102651.1:p.Val211Ile/c.631G>A,Gtt/Att,MODERATE,COSM4000643(1),0.255192,0.4415,rs867169,0.39(T),0.0(B),0.345(N),-0.9294(T),,chr19,2833864,2833864,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val211Ile/c.631G>A|538|ZNF554|protein_coding|CODING|NM_001102651.1|5|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1779,0.4193,0.2127,0.16,0.11,0.18,,,1.000(P),3.28(T),0.0000(T),0.015,-0.849394,2.71,-2.92,-2.913000,-1.490000,-0.752000,0.000000,0.000000,0.000000,3.0196
synonymous_variant,ZNF554,SILENT,NM_001102651.1:p.Cys525Cys/c.1575T>C,tgT/tgC,LOW,,0.394169,0.3413,rs8102063,,,,,,chr19,2834808,2834808,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys525Cys/c.1575T>C|538|ZNF554|protein_coding|CODING|NM_001102651.1|5|1),"H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5256,0.3314,0.4463,0.43,0.32,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ZNF555,SILENT,NM_152791.4:p.Arg501Arg/c.1503A>G,agA/agG,LOW,,0.876198,0.999,rs10412087,,,,,,chr19,2853566,2853566,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg501Arg/c.1503A>G|628|ZNF555|protein_coding|CODING|NM_152791.4|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg500Arg/c.1500A>G|627|ZNF555|protein_coding|CODING|NM_001172775.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.9744,0.8847,0.8479,0.81,0.76,0.84,,,,,,,,,,,,,,,,
missense_variant,ZNF57,MISSENSE,NM_173480.2:p.Ser56Ala/c.166T>G,Tct/Gct,MODERATE,,0.0109824,0,rs117724451,0.67(T),0.739(P),1.35(L),-1.0201(T),,chr19,2916111,2916111,T,G,het,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser56Ala/c.166T>G|555|ZNF57|protein_coding|CODING|NM_173480.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0102,0.0259,0.0239,0.02,0.01,0.03,,,1.000(N),"3.49,5.89,3.37(T,T,T)",0.0077(T),0.139,0.645791,1.36,1.36,0.491000,0.882000,-0.332000,0.200000,0.097000,0.001000,4.9197
synonymous_variant,ZNF57,SILENT,NM_173480.2:p.Thr189Thr/c.567T>C,acT/acC,LOW,,0.813698,0.7063,rs2288959,,,,,,chr19,2917186,2917186,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr189Thr/c.567T>C|555|ZNF57|protein_coding|CODING|NM_173480.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.863,0.8775,0.8996,0.86,0.78,0.90,,,,,,,,,,,,,,,,
missense_variant,ZNF57,MISSENSE,NM_173480.2:p.Thr223Asn/c.668C>A,aCc/aAc,MODERATE,COSM3756586(1),0.468251,0.631,rs2288958,0.02(D),0.003(B),0.77(N),-0.9622(T),,chr19,2917287,2917287,C,A,hom,missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr223Asn/c.668C>A|555|ZNF57|protein_coding|CODING|NM_173480.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5593,0.5447,0.4642,0.39,0.27,0.45,,,1.000(P),"2.43,2.43(T,T)",0.0000(T),0.029,2.111658,2.02,-4.04,-0.535000,-1.718000,-2.633000,0.021000,0.000000,0.000000,4.7224
synonymous_variant,ZNF57,SILENT,NM_173480.2:p.Thr331Thr/c.993T>C,acT/acC,LOW,COSM1392307(1),0.784944,0.7083,rs10410539,,,,,,chr19,2917612,2917612,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr331Thr/c.993T>C|555|ZNF57|protein_coding|CODING|NM_173480.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:SETDB1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7986,0.8458,0.8807,0.83,0.75,0.87,,,,,,,,,,,,,,,,
synonymous_variant,ZNF77,SILENT,NM_021217.2:p.Ser281Ser/c.843A>G,tcA/tcG,LOW,,0.839657,0.5804,rs3746073,,,,,,chr19,2934282,2934282,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser281Ser/c.843A>G|545|ZNF77|protein_coding|CODING|NM_021217.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8569,0.9193,0.9354,0.94,0.93,0.95,,,,,,,,,,,,,,,,
synonymous_variant,ZNF77,SILENT,NM_021217.2:p.Glu70Glu/c.210G>A,gaG/gaA,LOW,,0.842851,0.5774,rs4807371,,,,,,chr19,2936623,2936623,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu70Glu/c.210G>A|545|ZNF77|protein_coding|CODING|NM_021217.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8415,0.9222,0.9344,0.95,0.95,0.95,,,,,,,,,,,,,,,,
synonymous_variant,ZNF77,SILENT,NM_021217.2:p.Leu40Leu/c.120T>G,ctT/ctG,LOW,,0.175719,0.371,rs12608916,,,,,,chr19,2939289,2939289,A,C,het,synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu40Leu/c.120T>G|545|ZNF77|protein_coding|CODING|NM_021217.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.2478,0.1153,0.12,0.11,0.12,,,,,,,,,,,,,,,,
missense_variant,ZNF77,MISSENSE,NM_021217.2:p.Ile5Val/c.13A>G,Atc/Gtc,MODERATE,,0.176118,0.372,rs12609268,0.26(T),0.0(B),-1.66(N),-1.0058(T),,chr19,2939396,2939396,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile5Val/c.13A>G|545|ZNF77|protein_coding|CODING|NM_021217.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.2493,0.1153,0.12,0.11,0.12,,,1.000(P),4.72(T),0.0000(T),0.044,-2.370024,2.47,1.42,-0.642000,0.389000,0.257000,0.042000,0.607000,0.499000,4.2735
missense_variant,ZNF77,MISSENSE,NM_021217.2:p.Cys3Ser/c.8G>C,tGc/tCc,MODERATE,,0.176118,0.372,rs12610412,1(T),0.0(B),-2.41(N),-0.9753(T),,chr19,2939401,2939401,C,G,het,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys3Ser/c.8G>C|545|ZNF77|protein_coding|CODING|NM_021217.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.2493,0.1153,0.12,0.11,0.12,,,1.000(P),5.83(T),0.0000(T),0.01,-3.313343,2.47,1.42,-0.647000,0.388000,-0.422000,0.013000,0.120000,0.000000,3.2757
synonymous_variant,GNA11,SILENT,NM_002067.4:p.Thr257Thr/c.771C>T,acC/acT,LOW,COSM3756588(1),0.348842,0.4058,rs4900,,,,,,chr19,3119239,3119239,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr257Thr/c.771C>T|359|GNA11|protein_coding|CODING|NM_002067.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4151,0.4006,0.4324,0.38,0.21,0.47,,,,,,,,,,,,,,,,
missense_variant,GNA15,MISSENSE,NM_002068.3:p.Tyr147Cys/c.440A>G,tAc/tGc,MODERATE,,1,1,rs310680,1(T),0.0(B),-2.93(N),-0.9402(T),,chr19,3150238,3150238,A,G,hom,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr147Cys/c.440A>G|374|GNA15|protein_coding|CODING|NM_002068.3|3|1),intron_variant(MODIFIER|||n.159-450T>C||LOC100996351||NON_CODING|NR_110670.1|1|1)","GM12878:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000000(N),0.988(P),-2.3(D),0.0000(T),0.287,-1.330670,3.83,3.83,-0.642000,0.832000,3.942000,0.219000,1.000000,1.000000,6.1268
synonymous_variant,NCLN,SILENT,NM_020170.3:p.Pro19Pro/c.57G>T,ccG/ccT,LOW,COSM439199(8),0.553315,0.5238,rs11551095,,,,,,chr19,3186085,3186085,G,T,het,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro19Pro/c.57G>T|563|NCLN|protein_coding|CODING|NM_020170.3|1|1),"GM12878:Cmyc,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,GM12878:SIX5,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.5593,0.5288,0.5318,0.55,0.60,0.53,,,,,,,,,,,,,,,,
synonymous_variant,CELF5,SILENT,NM_021938.3:p.Pro53Pro/c.159G>C,ccG/ccC,LOW,COSM439200(4),0.174321,0.1984,rs17852497,,,,,,chr19,3224896,3224896,G,C,het,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro53Pro/c.159G>C|485|CELF5|protein_coding|CODING|NM_021938.3|1|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro53Pro/c.159G>C|409|CELF5|protein_coding|CODING|NM_001172673.1|1|1),upstream_gene_variant(MODIFIER||587|||CELF5||CODING|NR_033342.1||1)","HUVEC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,K562:DNase1",,,,0.1881,0.1671,0.2256,0.18,0.14,0.20,,,,,,,,,,,,,,,,
missense_variant,MFSD12,MISSENSE,NM_174983.4:p.Gly395Ser/c.1183G>A,Ggt/Agt,MODERATE,,0.00199681,0,rs34878396,0.08(T),"0.889,0.828,0.939(P,P,D)",2.38(M),0.5169(D),,chr19,3546264,3546264,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly386Ser/c.1156G>A|471|MFSD12|protein_coding|CODING|NM_001287529.1|7|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly395Ser/c.1183G>A|480|MFSD12|protein_coding|CODING|NM_174983.4|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0029,0.007,0.01,0.00,0.01,,0.000001(D),1.000(D),"-2.2,-2.2,-2.2(D,D,D)",0.7014(D),0.55,5.162522,4.63,4.63,0.561000,2.126000,7.195000,0.923000,0.999000,1.000000,16.4799
synonymous_variant,TBXA2R,SILENT,NM_201636.2:p.Thr342Thr/c.1026G>A,acG/acA,LOW,,0.329673,0.1458,rs5758,,,,,,chr19,3595032,3595032,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr342Thr/c.1026G>A|407|TBXA2R|protein_coding|CODING|NM_201636.2|4|1),3_prime_UTR_variant(MODIFIER||654|c.*654G>A|343|TBXA2R|protein_coding|CODING|NM_001060.5|3|1),downstream_gene_variant(MODIFIER||1493||312|GIPC3|protein_coding|CODING|NM_133261.2||1)","IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3569,0.402,0.5378,0.41,0.26,0.49,,,,,,,,,,,,,,,,
synonymous_variant,TBXA2R,SILENT,NM_201636.2:p.Tyr308Tyr/c.924T>C,taT/taC,LOW,COSM3756655(3),0.541733,0.1905,rs4523,,,,,,chr19,3595794,3595794,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr308Tyr/c.924T>C|343|TBXA2R|protein_coding|CODING|NM_001060.5|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr308Tyr/c.924T>C|407|TBXA2R|protein_coding|CODING|NM_201636.2|3|1)","IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4622,0.5187,0.6551,0.70,0.80,0.65,,,,,,,,,,,,,,,,
synonymous_variant,CACTIN,SILENT,NM_001080543.1:p.Asn742Asn/c.2226C>T,aaC/aaT,LOW,COSM3756671(2),0.433107,0.3313,rs2158935,0.73(T),,,-0.9384(T),,chr19,3611972,3611972,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn742Asn/c.2226C>T|758|CACTIN|protein_coding|CODING|NM_001080543.1|10|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn742Asn/c.2226C>T|758|CACTIN|protein_coding|CODING|NM_021231.1|10|1),non_coding_exon_variant(MODIFIER|||n.438G>A||CACTIN-AS1||NON_CODING|NR_038865.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4387,0.6066,0.5805,0.50,0.36,0.57,,,0.000(P),,0.0000(T),.,2.366515,4.3,-3.21,0.637000,-0.334000,-0.748000,0.980000,0.988000,0.043000,6.3668
missense_variant,CACTIN,MISSENSE,NM_001080543.1:p.Ala499Val/c.1496C>T,gCg/gTg,MODERATE,COSM3749497(6),0.430511,0.3294,rs2074789,0.28(T),"0.022,0.004(B,B)",0(N),-0.9154(T),,chr19,3613346,3613346,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala499Val/c.1496C>T|758|CACTIN|protein_coding|CODING|NM_001080543.1|9|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala499Val/c.1496C>T|758|CACTIN|protein_coding|CODING|NM_021231.1|9|1),non_coding_exon_variant(MODIFIER|||n.1331G>A||CACTIN-AS1||NON_CODING|NR_038865.1|4|1)","H1ESC:H3K36me3,K562:Max,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,K562:E2F6,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4325,0.6037,0.5795,0.59,0.48,0.64,,0.040837(N),1.000(P),,0.0000(T),0.029,1.311266,3.38,-5.6,-0.258000,-0.535000,-1.122000,0.007000,0.001000,0.000000,0.7428
synonymous_variant,CACTIN,SILENT,NM_001080543.1:p.Ala449Ala/c.1347A>G,gcA/gcG,LOW,,0.985823,1,rs7255692,,,,,,chr19,3614403,3614403,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala449Ala/c.1347A>G|758|CACTIN|protein_coding|CODING|NM_001080543.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala449Ala/c.1347A>G|758|CACTIN|protein_coding|CODING|NM_021231.1|7|1),downstream_gene_variant(MODIFIER||475|||CACTIN-AS1||NON_CODING|NR_038865.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9847,0.9813,0.9583,0.97,0.99,0.96,,,,,,,,,,,,,,,,
synonymous_variant,PIP5K1C,SILENT,NM_001300849.1:p.Ser228Ser/c.684G>A,tcG/tcA,LOW,COSM4131725(1),0.542931,0.6865,rs2074957,,,,,,chr19,3653525,3653525,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser228Ser/c.684G>A|640|PIP5K1C|protein_coding|CODING|NM_001195733.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser228Ser/c.684G>A|707|PIP5K1C|protein_coding|CODING|NM_001300849.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser228Ser/c.684G>A|668|PIP5K1C|protein_coding|CODING|NM_012398.2|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4274,0.6513,0.5636,0.53,0.46,0.56,,,,,,,,,,,,,,,,
synonymous_variant,TJP3,SILENT,NM_001267561.1:p.Ile67Ile/c.201C>T,atC/atT,LOW,COSM3756696(1),0.70647,0.6429,rs7258176,,,,,,chr19,3730041,3730041,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile58Ile/c.174C>T|919|TJP3|protein_coding|CODING|NM_001267560.1|4|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile67Ile/c.201C>T|928|TJP3|protein_coding|CODING|NM_001267561.1|4|1)",,,,,0.7025,0.7997,0.6421,0.67,0.75,0.63,,,,,,,,,,,,,,,,
synonymous_variant,TJP3,SILENT,NM_001267561.1:p.Ser231Ser/c.693G>A,tcG/tcA,LOW,COSM148456(3),0.328275,0.2768,rs1879040,,,,,,chr19,3731985,3731985,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser222Ser/c.666G>A|919|TJP3|protein_coding|CODING|NM_001267560.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser231Ser/c.693G>A|928|TJP3|protein_coding|CODING|NM_001267561.1|6|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,0.4489,0.4179,0.3459,0.32,0.27,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TJP3,SILENT,NM_001267561.1:p.Arg470Arg/c.1408A>C,Agg/Cgg,LOW,COSM3756699(1),0.705272,0.6181,rs599587,,,,,,chr19,3738649,3738649,A,C,hom,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg461Arg/c.1381A>C|919|TJP3|protein_coding|CODING|NM_001267560.1|12|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg470Arg/c.1408A>C|928|TJP3|protein_coding|CODING|NM_001267561.1|12|1)","H1ESC:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.7086,0.8098,0.665,0.69,0.74,0.66,,,,,,,,,,,,,,,,
synonymous_variant,TJP3,SILENT,NM_001267561.1:p.Pro499Pro/c.1497A>G,ccA/ccG,LOW,COSM3756700(1),0.698482,0.6181,rs600986,,,,,,chr19,3738971,3738971,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro490Pro/c.1470A>G|919|TJP3|protein_coding|CODING|NM_001267560.1|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro499Pro/c.1497A>G|928|TJP3|protein_coding|CODING|NM_001267561.1|13|1)","H1ESC:H3K36me3,CD4:H4K91ac,HepG2:H3K36me3",,,,0.7076,0.8112,0.667,0.68,0.72,0.66,,,,,,,,,,,,,,,,
synonymous_variant,TJP3,SILENT,NM_001267561.1:p.Leu589Leu/c.1767T>G,ctT/ctG,LOW,COSM439330(3),0.551318,0.5228,rs10416362,,,,,,chr19,3740658,3740658,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu580Leu/c.1740T>G|919|TJP3|protein_coding|CODING|NM_001267560.1|14|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu589Leu/c.1767T>G|928|TJP3|protein_coding|CODING|NM_001267561.1|14|1)",HepG2:H3K36me3,,,,0.6513,0.5865,0.5099,0.52,0.53,0.52,,,,,,,,,,,,,,,,
synonymous_variant,MRPL54,SILENT,NM_172251.2:p.Phe97Phe/c.291C>T,ttC/ttT,LOW,,0.607827,0.8026,rs7239,,,,,,chr19,3767265,3767265,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe97Phe/c.291C>T|138|MRPL54|protein_coding|CODING|NM_172251.2|3|1),downstream_gene_variant(MODIFIER||1824||184|RAX2|protein_coding|CODING|NM_032753.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6779,0.621,0.5775,0.55,0.47,0.58,,,,,,,,,,,,,,,,
missense_variant,ZFR2,MISSENSE,NM_015174.1:p.Lys622Asn/c.1866G>T,aaG/aaT,MODERATE,,,,,0(D),0.994(D),3.085(M),-0.9328(T),,chr19,3819108,3819108,C,A,het,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys622Asn/c.1866G>T|939|ZFR2|protein_coding|CODING|NM_015174.1|12|1),"CD4:H4K91ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000002(U),1.000(D),1.88(T),0.1546(T),0.247,2.377805,3.82,1.55,0.561000,0.356000,1.568000,0.121000,0.991000,1.000000,3.572
missense_variant,ZFR2,MISSENSE,NM_015174.1:p.Ala577Thr/c.1729G>A,Gcc/Acc,MODERATE,COSM3756719(2),0.380391,0.4296,rs2301843,0.44(T),0.001(B),-1.04(N),-0.9612(T),,chr19,3820191,3820191,C,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala577Thr/c.1729G>A|939|ZFR2|protein_coding|CODING|NM_015174.1|11|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2229,0.4135,0.4225,0.37,0.37,0.37,,0.383395(N),1.000(P),3.28(T),0.0000(T),0.01,-0.219507,2.52,-3.12,-0.327000,-0.336000,-1.761000,0.001000,0.000000,0.000000,3.8591
missense_variant,ZFR2,MISSENSE,NM_015174.1:p.Pro235Leu/c.704C>T,cCg/cTg,MODERATE,COSM3749502(4),0.365016,0.4206,rs2240232,0.11(T),0.001(B),1.1(L),-0.9183(T),,chr19,3831449,3831449,G,A,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro235Leu/c.704C>T|939|ZFR2|protein_coding|CODING|NM_015174.1|5|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1973,0.415,0.4195,0.37,0.37,0.38,,0.000447(N),1.000(P),"3.27,2.51(T,T)",0.0000(T),0.081,1.263776,3.52,-4.74,0.555000,-1.004000,-0.145000,0.034000,0.000000,0.333000,4.7462
missense_variant,ZFR2,MISSENSE,NM_015174.1:p.Val210Leu/c.628G>T,Gtg/Ttg,MODERATE,COSM3756721(2),0.367412,0.4157,rs2240233,0.51(T),0.003(B),0.805(L),-0.9141(T),,chr19,3831525,3831525,C,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val210Leu/c.628G>T|939|ZFR2|protein_coding|CODING|NM_015174.1|5|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2045,0.4135,0.4195,0.39,0.39,0.38,,0.226771(U),1.000(P),"3.25,2.45(T,T)",0.0000(T),0.026,0.717232,3.73,-3.0,0.550000,-0.734000,0.345000,0.012000,0.000000,0.000000,3.0894
missense_variant,ZFR2,MISSENSE,NM_015174.1:p.Ser164Leu/c.491C>T,tCg/tTg,MODERATE,COSM439377(2),0.367212,0.4196,rs2240235,0.59(T),0.003(B),1.445(L),-0.9141(T),,chr19,3831765,3831765,G,A,hom,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser164Leu/c.491C>T|939|ZFR2|protein_coding|CODING|NM_015174.1|4|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1973,0.4193,0.4195,0.39,0.40,0.39,,0.122696(N),0.995(P),"3.18,2.44(T,T)",0.0000(T),0.033,2.839235,3.19,2.14,0.561000,0.552000,0.516000,0.004000,0.000000,0.000000,6.2186
synonymous_variant,EEF2,SILENT,NM_001961.3:p.Tyr730Tyr/c.2190T>C,taT/taC,LOW,COSM3756774(5),0.913139,0.995,rs36527,,,,,,chr19,3977486,3977486,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr730Tyr/c.2190T>C|858|EEF2|protein_coding|CODING|NM_001961.3|13|1),"H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1",,RCV000116940.2,,0.8773,0.8631,0.8012,0.85,0.96,0.80,,,,,,,,,,,,,,,,
synonymous_variant,EEF2,SILENT,NM_001961.3:p.His544His/c.1632T>C,caT/caC,LOW,COSM4131800(1),0.913139,0.9931,rs36526,,,,,,chr19,3979408,3979408,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His544His/c.1632T>C|858|EEF2|protein_coding|CODING|NM_001961.3|11|1),"H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:HEY1,GM06990:H3K36me3,NHEK:DNase1",,RCV000116939.2,,0.8783,0.8631,0.8012,0.85,0.96,0.80,,,,,,,,,,,,,,,,
synonymous_variant,PIAS4,SILENT,NM_015897.2:p.Thr246Thr/c.738C>T,acC/acT,LOW,COSM1392747(1),0.590655,0.9147,rs2289863,,,,,,chr19,4028783,4028783,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr246Thr/c.738C>T|510|PIAS4|protein_coding|CODING|NM_015897.2|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6431,0.7622,0.7167,0.57,0.22,0.74,,,,,,,,,,,,,,,,
synonymous_variant,PIAS4,SILENT,NM_015897.2:p.Cys342Cys/c.1026T>C,tgT/tgC,LOW,,0.898163,0.9514,rs386421230,,,,,,chr19,4033462,4033462,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys342Cys/c.1026T>C|510|PIAS4|protein_coding|CODING|NM_015897.2|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8211,0.9524,0.9304,0.91,0.86,0.93,,,,,,,,,,,,,,,,
missense_variant,SIRT6,MISSENSE,NM_016539.2:p.Ser46Asn/c.137G>A,aGt/aAt,MODERATE,COSM439586(1),0.840855,0.7093,rs352493,0.53(T),"0.001,0.0,0.0(B,B,B)",-0.725(N),-1.0562(T),,chr19,4180836,4180836,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser46Asn/c.137G>A|328|SIRT6|protein_coding|CODING|NM_001193285.1|2|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser46Asn/c.137G>A|355|SIRT6|protein_coding|CODING|NM_016539.2|2|1)","H1ESC:H3K36me3,CD4:H2BK20ac,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.7924,0.7795,0.9344,0.94,0.94,0.95,,0.247559(N),1.000(P),"2.4,2.4(T,T)",0.0000(T),0.032,-0.142123,4.79,1.48,-0.521000,-0.355000,1.559000,0.194000,0.004000,0.947000,5.2731
missense_variant,ANKRD24,MISSENSE,NM_133475.1:p.Ala111Thr/c.331G>A,Gcg/Acg,MODERATE,COSM4131901(1),0.40635,0.3234,rs2052191,0.97(T),"0.0,0.0(B,B)",0.53(N),-0.9084(T),,chr19,4200156,4200156,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala111Thr/c.331G>A|1146|ANKRD24|protein_coding|CODING|NM_133475.1|5|1),"GM06990:H3K27me3,K562:CTCF,H1ESC:DNase1,NH-A:H3K27me3,HeLa-S3:CTCF,HMEC:CTCF,K562:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3047,0.3228,0.4632,0.45,0.51,0.43,,,1.000(P),"1.59,1.59(T,T)",0.0000(T),0.022,-2.235948,4.17,2.01,-0.817000,-0.245000,1.923000,0.046000,0.241000,0.552000,6.9181
missense_variant,ANKRD24,MISSENSE,NM_133475.1:p.Arg349Gln/c.1046G>A,cGg/cAg,MODERATE,COSM4131907(1),0.612819,0.6687,rs12978469,0.09(T),"0.005,0.009(B,B)",-0.345(N),-0.9837(T),,chr19,4210356,4210356,G,A,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg349Gln/c.1046G>A|1146|ANKRD24|protein_coding|CODING|NM_133475.1|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.6104,0.6196,0.6113,0.62,0.62,0.62,,,1.000(P),"1.52,1.46(T,T)",0.0000(T),0.053,1.745469,4.0,-1.19,-1.267000,0.214000,0.120000,0.811000,0.775000,0.121000,4.2467
missense_variant,ANKRD24,MISSENSE,NM_133475.1:p.Glu585Lys/c.1753G>A,Gag/Aag,MODERATE,,0.711661,0.8006,rs10413818,0.36(T),"0.001,0.008(B,B)",0(N),-0.9650(T),,chr19,4216910,4216910,G,A,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu585Lys/c.1753G>A|1146|ANKRD24|protein_coding|CODING|NM_133475.1|18|1),"H1ESC:H3K36me3,H1ESC:FOSL1,H1ESC:Egr1,K562:FOSL1,NHEK:H3K27me3,HeLa-S3:BAF155,HepG2:H3K27me3",,,,0.7577,0.7896,0.7386,0.72,0.64,0.77,,0.020254(N),1.000(P),"1.1,0.84(T,T)",0.0000(T),0.054,0.712444,2.65,-2.9,-1.328000,-0.490000,0.170000,0.004000,0.000000,0.043000,9.3841
missense_variant,ANKRD24,MISSENSE,NM_133475.1:p.Ser684Ala/c.2050T>G,Tcc/Gcc,MODERATE,,0.97504,1,rs353693,1(T),"0.0,0.0(B,B)",-0.55(N),-0.9960(T),,chr19,4217207,4217207,T,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser684Ala/c.2050T>G|1146|ANKRD24|protein_coding|CODING|NM_133475.1|18|1),"H1ESC:H3K36me3,H1ESC:FOSL1,H1ESC:Egr1,K562:FOSL1,NHEK:H3K27me3,HeLa-S3:BAF155",,,,0.9918,0.9582,0.9145,0.94,0.99,0.92,,0.290415(N),1.000(P),"1.52,1.52(T,T)",0.0000(T),0.003,-0.965473,3.44,1.09,-0.484000,-0.031000,0.119000,0.008000,0.010000,0.000000,8.1934
synonymous_variant,ANKRD24,SILENT,NM_133475.1:p.Ala810Ala/c.2430G>A,gcG/gcA,LOW,,0.333866,0.4692,rs58333777,,,,,,chr19,4217587,4217587,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala810Ala/c.2430G>A|1146|ANKRD24|protein_coding|CODING|NM_133475.1|18|1),H1ESC:H3K36me3,,,,0.3292,0.3862,0.4543,,,,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD24,SILENT,NM_133475.1:p.Ala933Ala/c.2799A>G,gcA/gcG,LOW,COSM439607(3),0.450479,0.4692,rs6510794,,,,,,chr19,4217956,4217956,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala933Ala/c.2799A>G|1146|ANKRD24|protein_coding|CODING|NM_133475.1|18|1),H1ESC:H3K36me3,,,,0.3405,0.4164,0.4751,0.38,0.40,0.37,,,,,,,,,,,,,,,,
missense_variant,EBI3,MISSENSE,NM_005755.2:p.Val201Ile/c.601G>A,Gtc/Atc,MODERATE,COSM3766358(2),0.448482,0.4415,rs4740,0.44(T),0.023(B),0.02(N),-0.9999(T),,chr19,4236996,4236996,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val201Ile/c.601G>A|229|EBI3|protein_coding|CODING|NM_005755.2|5|1),"GM12878:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.4908,0.2738,0.3052,0.39,0.58,0.29,,0.409544(N),1.000(P),0.29(T),0.0000(T),0.087,-0.279141,5.41,-8.95,-1.223000,-2.080000,-1.447000,0.000000,0.000000,0.000000,20.4741
synonymous_variant,EBI3,SILENT,NM_005755.2:p.Thr224Thr/c.672A>G,acA/acG,LOW,,0.460863,0.4435,rs4905,,,,,,chr19,4237067,4237067,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr224Thr/c.672A>G|229|EBI3|protein_coding|CODING|NM_005755.2|5|1),"GM12878:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.4898,0.2767,0.3052,0.40,0.62,0.29,,,,,,,,,,,,,,,,
synonymous_variant,FSD1,SILENT,NM_024333.2:p.Arg76Arg/c.228T>C,cgT/cgC,LOW,COSM4131964(1),0.583267,0.4107,rs4807578,,,,,,chr19,4306311,4306311,T,C,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg76Arg/c.228T>C|496|FSD1|protein_coding|CODING|NM_024333.2|3|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6789,0.6412,0.663,0.62,0.59,0.64,,,,,,,,,,,,,,,,
synonymous_variant,FSD1,SILENT,NM_024333.2:p.Thr349Thr/c.1047G>A,acG/acA,LOW,COSM3756847(2),0.0497204,0,rs67511110,,,,,,chr19,4322990,4322990,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr349Thr/c.1047G>A|496|FSD1|protein_coding|CODING|NM_024333.2|11|1),downstream_gene_variant(MODIFIER||1050||403|STAP2|protein_coding|CODING|NM_001013841.1||1),downstream_gene_variant(MODIFIER||1050||449|STAP2|protein_coding|CODING|NM_017720.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K36me3",,,,0.0215,0.0692,0.0795,0.08,0.09,0.08,,,,,,,,,,,,,,,,
synonymous_variant,STAP2,SILENT,NM_017720.2:p.Pro313Pro/c.939C>T,ccC/ccT,LOW,,0.519968,0.6339,rs1138253,,,,,,chr19,4325433,4325433,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro313Pro/c.939C>T|403|STAP2|protein_coding|CODING|NM_001013841.1|10|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro313Pro/c.939C>T|449|STAP2|protein_coding|CODING|NM_017720.2|10|1),downstream_gene_variant(MODIFIER||1590||496|FSD1|protein_coding|CODING|NM_024333.2||1)","NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4366,0.4957,0.4294,0.48,0.55,0.45,,,,,,,,,,,,,,,,
missense_variant,STAP2,MISSENSE,NM_017720.2:p.Asp93Asn/c.277G>A,Gat/Aat,MODERATE,,0.655551,0.7044,rs7247504,0(D),"0.0,0.001(B,B)",-0.72(N),-1.0047(T),,chr19,4333711,4333711,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp93Asn/c.277G>A|403|STAP2|protein_coding|CODING|NM_001013841.1|3|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp93Asn/c.277G>A|449|STAP2|protein_coding|CODING|NM_017720.2|3|1)",NHEK:H3K36me3,,,,0.5849,0.5965,0.5507,0.61,0.74,0.54,,0.231325(N),1.000(P),,0.0000(T),0.008,-2.022811,5.02,-1.78,-1.302000,-0.599000,-0.077000,0.041000,0.077000,0.018000,7.2493
synonymous_variant,MPND,SILENT,NM_001300862.1:p.Ala199Ala/c.597A>G,gcA/gcG,LOW,COSM4131974(1),0.653554,0.7718,rs11882587,,,,,,chr19,4352959,4352959,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala199Ala/c.597A>G|451|MPND|protein_coding|CODING|NM_001159846.2|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala199Ala/c.597A>G|501|MPND|protein_coding|CODING|NM_001300862.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala199Ala/c.597A>G|471|MPND|protein_coding|CODING|NM_032868.5|4|1)","K562:ZBTB7A,NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,HMEC:DNase1,GM06990:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.6339,0.7176,0.5328,0.57,0.63,0.54,,,,,,,,,,,,,,,,
synonymous_variant,MPND,SILENT,NM_001300862.1:p.Ser403Ser/c.1209A>G,tcA/tcG,LOW,COSM4131977(1),0.989816,1,rs4807583,,,,,,chr19,4357555,4357555,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser353Ser/c.1059A>G|451|MPND|protein_coding|CODING|NM_001159846.2|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser403Ser/c.1209A>G|501|MPND|protein_coding|CODING|NM_001300862.1|10|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser403Ser/c.1209A>G|471|MPND|protein_coding|CODING|NM_032868.5|10|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9836,0.9856,0.9781,0.98,0.99,0.98,,,,,,,,,,,,,,,,
synonymous_variant,SH3GL1,SILENT,NM_003025.3:p.Pro257Pro/c.771C>G,ccC/ccG,LOW,COSM1750859(2),0.391573,0.6042,rs243261,,,,,,chr19,4362691,4362691,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro209Pro/c.627C>G|320|SH3GL1|protein_coding|CODING|NM_001199943.1|7|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro193Pro/c.579C>G|304|SH3GL1|protein_coding|CODING|NM_001199944.1|8|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro257Pro/c.771C>G|368|SH3GL1|protein_coding|CODING|NM_003025.3|8|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3476,0.4063,0.2744,0.30,0.34,0.28,,,,,,,,,,,,,,,,
missense_variant,CHAF1A,MISSENSE,NM_005483.2:p.Ala923Val/c.2768C>T,gCg/gTg,MODERATE,,0.567891,0.6657,rs9352,0(D),0.073(B),0.69(N),-1.0251(T),,chr19,4442336,4442336,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala923Val/c.2768C>T|956|CHAF1A|protein_coding|CODING|NM_005483.2|14|1),splice_region_variant(LOW|||c.2768C>T|956|CHAF1A|protein_coding|CODING|NM_005483.2|14|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5644,0.7507,0.5427,0.52,0.44,0.56,,,0.000(P),1.94(T),0.0000(T),0.046,2.842317,5.02,0.0919,-0.311000,0.178000,0.240000,0.081000,0.855000,0.549000,6.7886
missense_variant,CHAF1A,MISSENSE,NM_005483.2:p.Ser950Ala/c.2848T>G,Tcg/Gcg,MODERATE,,0.969848,0.9494,rs243383,0(D),0.0(B),-0.77(N),-0.9617(T),,chr19,4442999,4442999,T,G,hom,missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser950Ala/c.2848T>G|956|CHAF1A|protein_coding|CODING|NM_005483.2|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.956,0.9928,0.9722,0.98,0.99,0.98,,,1.000(P),2.23(T),0.0000(T),0.064,-1.284751,4.22,-8.44,-4.006000,-2.221000,-1.353000,0.000000,0.000000,0.000000,2.77
missense_variant,UBXN6,MISSENSE,NM_025241.2:p.Ala31Thr/c.91G>A,Gcc/Acc,MODERATE,,0.166933,0.0645,rs1127888,0.67(T),0.003(B),1.59(L),-0.9849(T),,chr19,4454083,4454083,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala31Thr/c.91G>A|441|UBXN6|protein_coding|CODING|NM_025241.2|2|1),5_prime_UTR_variant(MODIFIER||69|c.-69G>A|388|UBXN6|protein_coding|CODING|NM_001171091.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1687,0.3213,0.2624,0.22,0.12,0.27,,0.970198(N),0.000(P),0.95(T),0.0000(T),0.016,0.894076,4.13,1.96,0.484000,0.211000,0.552000,0.138000,0.990000,0.996000,6.9264
synonymous_variant,UBXN6,SILENT,NM_025241.2:p.Lys15Lys/c.45G>A,aaG/aaA,LOW,COSM1750878(4),0.40615,0.6171,rs1044510,,,,,,chr19,4457650,4457650,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys15Lys/c.45G>A|441|UBXN6|protein_coding|CODING|NM_025241.2|1|1),"K562:ZBTB7A,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:H3K9ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.3988,0.4294,0.2763,0.30,0.33,0.28,,,,,,,,,,,,,,,,
synonymous_variant,HDGFRP2,SILENT,NM_001001520.2:p.Pro229Pro/c.687A>G,ccA/ccG,LOW,COSM439749(3),0.582069,0.4236,rs386619750,,,,,,chr19,4493708,4493708,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro229Pro/c.687A>G|671|HDGFRP2|protein_coding|CODING|NM_001001520.2|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro229Pro/c.687A>G|670|HDGFRP2|protein_coding|CODING|NM_032631.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5358,0.6484,0.6243,0.64,0.68,0.63,,,,,,,,,,,,,,,,
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Pro1165Pro/c.3495T>C,ccT/ccC,LOW,,0.998403,1,rs8105775,,,,,,chr19,4508945,4508945,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1165Pro/c.3495T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|4|1),"HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9959,1,0.997,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Ala1124Thr/c.3370G>A,Gcc/Acc,MODERATE,COSM1481191(1),0.354633,0.5645,rs7251858,0.32(T),0.452(P),0.695(N),-0.9957(T),,chr19,4510560,4510560,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1124Thr/c.3370G>A|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3",,,,0.3354,0.304,0.3091,0.30,0.28,0.30,,0.077365(N),1.000(P),2.84(T),0.0000(T),0.097,2.823443,2.67,1.51,0.511000,1.353000,0.396000,0.007000,0.015000,0.000000,3.8559
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Gly930Gly/c.2790G>C,ggG/ggC,LOW,,0.611222,0.6577,rs7255715,,,,,,chr19,4511140,4511140,C,G,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly930Gly/c.2790G>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.6196,0.4986,0.5567,0.58,0.64,0.55,,,,,,,,,,,,,,,,
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Val884Val/c.2652G>A,gtG/gtA,LOW,COSM1287243(2),0.00119808,0,rs10422078,,,,,,chr19,4511278,4511278,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val884Val/c.2652G>A|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0,0,0,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Ala883Ala/c.2649C>T,gcC/gcT,LOW,COSM4132037(1),0.25619,0.2073,rs7254934,,,,,,chr19,4511281,4511281,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala883Ala/c.2649C>T|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1994,0.2767,0.2744,,,,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Ala883Thr/c.2647G>A,Gcc/Acc,MODERATE,COSM3927740(1),0.00159744,0,rs80238130,0.63(T),0.001(B),-0.28(N),-0.9375(T),,chr19,4511283,4511283,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala883Thr/c.2647G>A|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.0041,0.0029,0,,,,,0.010412(N),1.000(N),3.43(T),0.0067(T),0.06,-0.856760,5.08,-3.73,-1.244000,-1.025000,.,0.002000,0.000000,.,8.8072
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Asp882Asp/c.2646T>C,gaT/gaC,LOW,,0.00678914,0,rs10422854,,,,,,chr19,4511284,4511284,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp882Asp/c.2646T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.0051,0.0029,0.001,,,,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Lys860Asn/c.2580A>T,aaA/aaT,MODERATE,COSM3766370(1),,,rs7259721,1(T),0.0(B),-2.635(N),-0.9354(T),,chr19,4511350,4511350,T,A,hom,missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys860Asn/c.2580A>T|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,,,,,,,,0.622286(N),1.000(P),3.47(T),0.0000(T),0.032,-0.902774,4.78,-1.47,-0.527000,-1.349000,0.160000,0.014000,0.000000,0.332000,4.073
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Ala826Val/c.2477C>T,gCg/gTg,MODERATE,,0.892372,0.9752,rs7255187,0.82(T),0.001(B),-2.24(N),-1.0109(T),,chr19,4511453,4511453,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala826Val/c.2477C>T|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.8845,0.8905,0.8668,0.87,0.87,0.87,,0.521824(N),1.000(P),4.13(T),0.0000(T),0.027,-0.695069,4.61,3.59,-1.901000,0.157000,-0.082000,0.000000,0.001000,0.000000,7.9265
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Met802Thr/c.2405T>C,aTg/aCg,MODERATE,,0.932109,0.9762,rs7256712,0.6(T),0.0(B),-1.385(N),-0.9460(T),,chr19,4511525,4511525,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met802Thr/c.2405T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.8957,0.9121,0.8817,,,,,0.000070(N),1.000(P),3.5(T),0.0000(T),0.048,-2.208160,4.43,-8.86,-3.795000,-3.216000,-2.605000,0.000000,0.000000,0.000000,11.942
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Val785Val/c.2355G>C,gtG/gtC,LOW,COSM1393610(2),0.266773,0.3204,rs62115185,,,,,,chr19,4511575,4511575,C,G,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val785Val/c.2355G>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.4039,0.2334,0.2684,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Ala784Ala/c.2352T>C,gcT/gcC,LOW,COSM4132045(2),0.266773,0.3204,rs62115186,,,,,,chr19,4511578,4511578,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala784Ala/c.2352T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.4039,0.2334,0.2684,,,,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Ala784Thr/c.2350G>A,Gct/Act,MODERATE,COSM3927742(3),0.266773,0.3204,rs78884463,1(T),0.001(B),-0.81(N),-0.9226(T),,chr19,4511580,4511580,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala784Thr/c.2350G>A|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.4039,0.2334,0.2684,,,,,0.298499(N),1.000(N),3.99(T),0.0042(T),0.059,-1.172069,4.17,-0.591,-2.048000,-1.183000,-2.798000,0.000000,0.000000,0.000000,10.9171
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Asp783Asp/c.2349T>C,gaT/gaC,LOW,COSM4132047(1),0.266773,0.3204,rs75029810,,,,,,chr19,4511581,4511581,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp783Asp/c.2349T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.4039,0.2334,0.2684,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Leu778Leu/c.2332T>C,Tta/Cta,LOW,COSM4132052(2),0.0672923,0.0516,rs76022477,,,,,,chr19,4511598,4511598,A,G,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu778Leu/c.2332T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1268,0.0389,0.0358,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Val777Val/c.2331G>C,gtG/gtC,LOW,COSM4132054(1),0.053115,0.0516,rs78467378,,,,,,chr19,4511599,4511599,C,G,het,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val777Val/c.2331G>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.1268,0.0375,0.0358,,,,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Lys761Asn/c.2283G>C,aaG/aaC,MODERATE,COSM4132059(1),0.841853,0.9752,rs7256387,1(T),0.0(B),-2.705(N),-0.8756(T),,chr19,4511647,4511647,C,G,hom,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys761Asn/c.2283G>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.8957,0.8458,0.8787,0.82,0.70,0.88,,0.550147(N),1.000(P),3.47(T),0.0000(T),0.019,-1.270695,4.69,-9.38,-0.527000,-1.812000,-4.807000,0.001000,0.000000,0.000000,4.6248
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Thr700Thr/c.2100T>C,acT/acC,LOW,COSM4132065(1),,,rs7257142,,,,,,chr19,4511830,4511830,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr700Thr/c.2100T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Thr674Thr/c.2022G>A,acG/acA,LOW,,,,rs10423606,,,,,,chr19,4511908,4511908,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr674Thr/c.2022G>A|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Ala668Val/c.2003C>T,gCc/gTc,MODERATE,COSM4132072(3),0.572284,0.6716,rs10422025,1(T),0.001(B),-2.075(N),-0.9999(T),,chr19,4511927,4511927,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala668Val/c.2003C>T|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.5746,0.5677,0.5596,,,,,0.258023(N),1.000(P),4.42(T),0.0000(T),0.05,-1.098298,5.14,1.73,-0.856000,-0.041000,-0.217000,0.004000,0.002000,0.000000,1.2074
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Ala667Ala/c.2001T>C,gcT/gcC,LOW,COSM4132073(2),0.623403,0.6845,rs10424401,,,,,,chr19,4511929,4511929,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala667Ala/c.2001T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.5695,0.5749,0.5596,,,,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Ser659Gly/c.1975A>G,Agt/Ggt,MODERATE,,0.879992,0.9345,rs7260518,1(T),0.0(B),-1.715(N),-1.0337(T),,chr19,4511955,4511955,T,C,hom,missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser659Gly/c.1975A>G|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.7505,0.9164,0.8638,0.89,0.91,0.88,,0.001448(N),1.000(P),5.26(T),0.0000(T),0.075,-0.726516,4.77,3.72,-0.817000,1.008000,-0.016000,0.001000,0.012000,0.000000,5.6886
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Thr421Ala/c.1261A>G,Acc/Gcc,MODERATE,,0.454073,0.7153,rs55901236,0.16(T),0.008(B),1.42(L),-1.0284(T),,chr19,4512669,4512669,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr421Ala/c.1261A>G|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.5061,0.4741,0.5696,0.43,0.21,0.54,,0.001559(N),1.000(P),2.45(T),0.0000(T),0.034,1.150525,4.69,0.0866,0.369000,-0.085000,-0.441000,0.006000,0.001000,0.000000,8.6452
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Gly263Ser/c.787G>A,Ggt/Agt,MODERATE,COSM4132101(1),0.911741,0.9117,rs4807595,0.01(D),0.203(B),2.52(M),-1.0662(T),,chr19,4513143,4513143,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly263Ser/c.787G>A|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.9294,0.8545,0.838,,,,,0.001804(N),1.000(P),2.55(T),0.0000(T),0.24,1.710474,4.31,3.27,-0.215000,0.824000,1.748000,0.012000,0.010000,0.006000,9.4328
synonymous_variant,PLIN4,SILENT,NM_001080400.1:p.Thr262Thr/c.786T>C,acT/acC,LOW,COSM4132103(1),0.917532,0.9147,rs4807596,,,,,,chr19,4513144,4513144,A,G,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr262Thr/c.786T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.9305,0.866,0.8539,,,,,,,,,,,,,,,,,,,
missense_variant,PLIN4,MISSENSE,NM_001080400.1:p.Val124Ala/c.371T>C,gTg/gCg,MODERATE,,0.962061,0.9772,rs4807597,0.62(T),0.002(B),-0.83(N),-0.9943(T),,chr19,4513559,4513559,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val124Ala/c.371T>C|1357|PLIN4|protein_coding|CODING|NM_001080400.1|3|1),"GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3",,,,0.8967,0.9741,0.9573,0.97,0.99,0.95,,0.478059(N),1.000(P),2.35(T),0.0000(T),0.037,-0.764211,5.36,3.22,-2.378000,0.029000,-0.126000,0.079000,0.000000,0.000000,9.954
missense_variant,PLIN5,MISSENSE,NM_001013706.2:p.Arg306Trp/c.916C>T,Cgg/Tgg,MODERATE,,0.0926518,0.0288,rs1062223,0(D),0.972(D),1.5(L),-1.0871(T),,chr19,4524016,4524016,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg306Trp/c.916C>T|463|PLIN5|protein_coding|CODING|NM_001013706.2|8|1),H1ESC:DNase1,,,,0.0818,0.2104,0.1958,0.14,0.04,0.19,,0.835949(U),0.000(P),2.11(T),0.0002(T),0.154,3.314611,4.59,4.59,0.511000,2.080000,5.443000,0.090000,0.996000,0.995000,14.8561
missense_variant,PLIN5,MISSENSE,NM_001013706.2:p.Cys255Arg/c.763T>C,Tgc/Cgc,MODERATE,COSM3766372(3),0.847244,0.6706,rs1610090,0.45(T),0.0(B),-1.1(N),-1.0459(T),,chr19,4525046,4525046,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys255Arg/c.763T>C|463|PLIN5|protein_coding|CODING|NM_001013706.2|7|1),K562:H3K27me3,,,,0.8037,0.9121,0.8588,0.92,0.97,0.90,,1.000000(U),1.000(P),3.55(T),0.0000(T),0.016,0.164221,4.06,-4.28,-1.977000,-0.553000,-0.354000,0.001000,0.000000,0.000000,1.9256
missense_variant,LRG1,MISSENSE,NM_052972.2:p.Pro133Ser/c.397C>T,Ccg/Tcg,MODERATE,COSM3756946(3),0.320288,0.5308,rs966384,0.4(T),0.116(B),1.17(L),-0.9915(T),,chr19,4538599,4538599,G,A,het,missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro133Ser/c.397C>T|347|LRG1|protein_coding|CODING|NM_052972.2|2|1),"K562:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2873,0.4467,0.3618,0.26,0.13,0.32,,0.001098(N),1.000(P),3.9(T),0.0000(T),0.053,0.173269,4.71,0.948,0.655000,0.527000,0.022000,0.001000,0.009000,0.091000,6.9139
synonymous_variant,TICAM1,SILENT,NM_182919.3:p.Asp557Asp/c.1671C>T,gaC/gaT,LOW,COSM3764756(2),0.277556,0.4345,rs2292151,,,,,,chr19,4816719,4816719,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp557Asp/c.1671C>T|712|TICAM1|protein_coding|CODING|NM_182919.3|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2495,0.33,0.2694,0.22,0.18,0.24,,,,,,,,,,,,,,,,
synonymous_variant,TICAM1,SILENT,NM_182919.3:p.Thr4Thr/c.12A>G,acA/acG,LOW,,0.725639,0.5893,rs7255265,,,,,,chr19,4818378,4818378,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr4Thr/c.12A>G|712|TICAM1|protein_coding|CODING|NM_182919.3|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6779,0.6671,0.6233,0.73,0.92,0.63,,,,,,,,,,,,,,,,
missense_variant,PLIN3,MISSENSE,NM_005817.4:p.Val275Ala/c.824T>C,gTc/gCc,MODERATE,,0.895168,0.8948,rs9973235,0.45(T),"0.0,0.0,0.0(B,B,B)",0.235(N),-1.0581(T),,chr19,4847713,4847713,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val275Ala/c.824T>C|433|PLIN3|protein_coding|CODING|NM_001164189.1|6|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val263Ala/c.788T>C|422|PLIN3|protein_coding|CODING|NM_001164194.1|6|1),missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val275Ala/c.824T>C|434|PLIN3|protein_coding|CODING|NM_005817.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8701,0.9251,0.8807,0.87,0.91,0.85,,0.270774(U),1.000(P),2.34(T),0.0000(T),0.023,0.290571,4.41,2.18,-0.282000,-0.002000,3.327000,0.919000,0.003000,0.991000,5.595
synonymous_variant,PLIN3,SILENT,NM_005817.4:p.Val223Val/c.669C>T,gtC/gtT,LOW,,0.116014,0.0685,rs10406652,,,,,,chr19,4847868,4847868,G,A,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val223Val/c.669C>T|433|PLIN3|protein_coding|CODING|NM_001164189.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val211Val/c.633C>T|422|PLIN3|protein_coding|CODING|NM_001164194.1|6|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val223Val/c.669C>T|434|PLIN3|protein_coding|CODING|NM_005817.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0665,0.1484,0.1312,0.14,0.16,0.14,,,,,,,,,,,,,,,,
synonymous_variant,PLIN3,SILENT,NM_005817.4:p.Phe221Phe/c.663T>C,ttT/ttC,LOW,,0.865815,0.8948,rs9304915,,,,,,chr19,4847874,4847874,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe221Phe/c.663T>C|433|PLIN3|protein_coding|CODING|NM_001164189.1|6|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe209Phe/c.627T>C|422|PLIN3|protein_coding|CODING|NM_001164194.1|6|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe221Phe/c.663T>C|434|PLIN3|protein_coding|CODING|NM_005817.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8221,0.915,0.8708,0.85,0.87,0.85,,,,,,,,,,,,,,,,
synonymous_variant,PLIN3,SILENT,NM_005817.4:p.Leu186Leu/c.556T>C,Ttg/Ctg,LOW,COSM1162401(4),0.879792,0.8938,rs2271058,,,,,,chr19,4852106,4852106,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu174Leu/c.520T>C|422|PLIN3|protein_coding|CODING|NM_001164194.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu186Leu/c.556T>C|433|PLIN3|protein_coding|CODING|NM_001164189.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu186Leu/c.556T>C|434|PLIN3|protein_coding|CODING|NM_005817.4|5|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.863,0.9179,0.8767,0.86,0.88,0.85,,,,,,,,,,,,,,,,
missense_variant,PLIN3,MISSENSE,NM_005817.4:p.Ile56Val/c.166A>G,Atc/Gtc,MODERATE,COSM439886(1),0.633786,0.5129,rs8289,0.76(T),"0.0,0.0(B,B)",-1.52(N),-1.0701(T),,chr19,4859937,4859937,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile56Val/c.166A>G|433|PLIN3|protein_coding|CODING|NM_001164189.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile56Val/c.166A>G|422|PLIN3|protein_coding|CODING|NM_001164194.1|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile56Val/c.166A>G|434|PLIN3|protein_coding|CODING|NM_005817.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7229,0.6254,0.661,0.71,0.67,0.73,,0.008766(N),1.000(P),3.58(T),0.0000(T),0.018,-2.137034,4.76,1.26,-0.355000,0.073000,-0.510000,0.014000,0.001000,0.016000,5.0884
synonymous_variant,UHRF1,SILENT,NM_013282.4:p.Gly124Gly/c.372T>C,ggT/ggC,LOW,,0.320288,0.0913,rs2251520,,,,,,chr19,4929413,4929413,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly111Gly/c.333T>C|792|UHRF1|protein_coding|CODING|NM_001048201.2|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly111Gly/c.333T>C|792|UHRF1|protein_coding|CODING|NM_001290050.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly111Gly/c.333T>C|792|UHRF1|protein_coding|CODING|NM_001290051.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly111Gly/c.333T>C|792|UHRF1|protein_coding|CODING|NM_001290052.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly124Gly/c.372T>C|805|UHRF1|protein_coding|CODING|NM_013282.4|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3732,0.4193,0.2913,0.31,0.39,0.28,,,,,,,,,,,,,,,,
synonymous_variant,UHRF1,SILENT,NM_013282.4:p.Glu144Glu/c.432A>G,gaA/gaG,LOW,,0.320687,0.0903,rs2123731,,,,,,chr19,4929473,4929473,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu131Glu/c.393A>G|792|UHRF1|protein_coding|CODING|NM_001048201.2|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu131Glu/c.393A>G|792|UHRF1|protein_coding|CODING|NM_001290050.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu131Glu/c.393A>G|792|UHRF1|protein_coding|CODING|NM_001290051.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu131Glu/c.393A>G|792|UHRF1|protein_coding|CODING|NM_001290052.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu144Glu/c.432A>G|805|UHRF1|protein_coding|CODING|NM_013282.4|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3732,0.4193,0.2922,0.32,0.39,0.28,,,,,,,,,,,,,,,,
synonymous_variant,UHRF1,SILENT,NM_013282.4:p.Ile462Ile/c.1386A>C,atA/atC,LOW,COSM3766399(1),0.660543,0.6806,rs2250982,,,,,,chr19,4945914,4945914,A,C,hom,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile449Ile/c.1347A>C|792|UHRF1|protein_coding|CODING|NM_001048201.2|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atA/atC|p.Ile449Ile/c.1347A>C|792|UHRF1|protein_coding|CODING|NM_001290050.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atA/atC|p.Ile449Ile/c.1347A>C|792|UHRF1|protein_coding|CODING|NM_001290051.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atA/atC|p.Ile449Ile/c.1347A>C|792|UHRF1|protein_coding|CODING|NM_001290052.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|atA/atC|p.Ile462Ile/c.1386A>C|805|UHRF1|protein_coding|CODING|NM_013282.4|9|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7025,0.5836,0.6143,0.53,0.57,0.51,,,,,,,,,,,,,,,,
synonymous_variant,UHRF1,SILENT,NM_013282.4:p.Asp482Asp/c.1446T>C,gaT/gaC,LOW,,0.956669,0.999,rs2250978,,,,,,chr19,4945974,4945974,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp469Asp/c.1407T>C|792|UHRF1|protein_coding|CODING|NM_001048201.2|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp469Asp/c.1407T>C|792|UHRF1|protein_coding|CODING|NM_001290050.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp469Asp/c.1407T>C|792|UHRF1|protein_coding|CODING|NM_001290051.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp469Asp/c.1407T>C|792|UHRF1|protein_coding|CODING|NM_001290052.1|10|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp482Asp/c.1446T>C|805|UHRF1|protein_coding|CODING|NM_013282.4|9|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9274,0.9784,0.9473,0.95,0.94,0.95,,,,,,,,,,,,,,,,
missense_variant,UHRF1,MISSENSE,NM_013282.4:p.Ala651Thr/c.1951G>A,Gcg/Acg,MODERATE,,0.116414,0.0179,rs17883331,0.47(T),"0.0,0.001(B,B)",-0.55(N),-0.9893(T),,chr19,4954455,4954455,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala638Thr/c.1912G>A|792|UHRF1|protein_coding|CODING|NM_001048201.2|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala638Thr/c.1912G>A|792|UHRF1|protein_coding|CODING|NM_001290050.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala638Thr/c.1912G>A|792|UHRF1|protein_coding|CODING|NM_001290051.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala638Thr/c.1912G>A|792|UHRF1|protein_coding|CODING|NM_001290052.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala651Thr/c.1951G>A|805|UHRF1|protein_coding|CODING|NM_013282.4|13|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1493,0.2205,0.2157,0.15,0.05,0.20,,0.676466(N),1.000(N),,0.0000(T),0.026,-0.057155,3.88,-6.64,-1.920000,-1.672000,-0.676000,0.001000,0.000000,0.000000,7.0524
synonymous_variant,KDM4B,SILENT,NM_015015.2:p.Asp116Asp/c.348T>C,gaT/gaC,LOW,,0.880192,0.7569,rs2240678,,,,,,chr19,5041178,5041178,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp116Asp/c.348T>C|1096|KDM4B|protein_coding|CODING|NM_015015.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.8967,0.7824,0.9085,0.93,0.97,0.90,,,,,,,,,,,,,,,,
missense_variant,KDM4B,MISSENSE,NM_015015.2:p.Lys710Glu/c.2128A>G,Aag/Gag,MODERATE,,1,1,rs2620836,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9867(T),,chr19,5135392,5135392,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys710Glu/c.2128A>G|1096|KDM4B|protein_coding|CODING|NM_015015.2|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.611894(N),1.000(P),"2.37,2.38(T,T)",0.0000(T),0.077,-1.051296,3.81,3.81,-0.215000,0.599000,2.498000,0.005000,0.029000,0.996000,9.7375
synonymous_variant,PTPRS,SILENT,NM_002850.3:p.Asp1763Asp/c.5289C>T,gaC/gaT,LOW,,0.100639,0,rs1143699,,,,,,chr19,5210762,5210762,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1763Asp/c.5289C>T|1948|PTPRS|protein_coding|CODING|NM_002850.3|34|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1316Asp/c.3948C>T|1501|PTPRS|protein_coding|CODING|NM_130853.2|25|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1725Asp/c.5175C>T|1910|PTPRS|protein_coding|CODING|NM_130854.2|29|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1320Asp/c.3960C>T|1505|PTPRS|protein_coding|CODING|NM_130855.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0562,0.0807,0.0994,0.13,0.19,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PTPRS,SILENT,NM_002850.3:p.Leu1757Leu/c.5269C>T,Ctg/Ttg,LOW,COSM148463(3),0.335064,0.0992,rs1143698,,,,,,chr19,5210782,5210782,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1757Leu/c.5269C>T|1948|PTPRS|protein_coding|CODING|NM_002850.3|34|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1310Leu/c.3928C>T|1501|PTPRS|protein_coding|CODING|NM_130853.2|25|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1719Leu/c.5155C>T|1910|PTPRS|protein_coding|CODING|NM_130854.2|29|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1314Leu/c.3940C>T|1505|PTPRS|protein_coding|CODING|NM_130855.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3354,0.3516,0.2714,0.34,0.47,0.27,,,,,,,,,,,,,,,,
synonymous_variant,PTPRS,SILENT,NM_002850.3:p.Pro1579Pro/c.4737G>A,ccG/ccA,LOW,COSM3757111(3),0.317492,0.0556,rs1064300,,,,,,chr19,5212380,5212380,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1579Pro/c.4737G>A|1948|PTPRS|protein_coding|CODING|NM_002850.3|31|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1132Pro/c.3396G>A|1501|PTPRS|protein_coding|CODING|NM_130853.2|22|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1541Pro/c.4623G>A|1910|PTPRS|protein_coding|CODING|NM_130854.2|26|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1136Pro/c.3408G>A|1505|PTPRS|protein_coding|CODING|NM_130855.2|23|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3262,0.415,0.3469,0.35,0.38,0.33,,,,,,,,,,,,,,,,
missense_variant,PTPRS,MISSENSE,NM_002850.3:p.Cys1457Arg/c.4369T>C,Tgt/Cgt,MODERATE,,0.999002,1,rs4807697,0.4(T),"0.001,0.0,0.0,0.0,0.001(B,B,B,B,B)",-1.81(N),-0.9727(T),,chr19,5214697,5214697,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1457Arg/c.4369T>C|1948|PTPRS|protein_coding|CODING|NM_002850.3|29|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1010Arg/c.3028T>C|1501|PTPRS|protein_coding|CODING|NM_130853.2|20|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1419Arg/c.4255T>C|1910|PTPRS|protein_coding|CODING|NM_130854.2|24|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys1014Arg/c.3040T>C|1505|PTPRS|protein_coding|CODING|NM_130855.2|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.999,0.9986,0.997,1.00,1.00,1.00,,0.000550(N),0.000(P),"-1.61,-1.61,-1.61,-1.61,-1.61(D,D,D,D,D)",0.0000(T),0.066,0.105071,3.22,0.736,-0.642000,0.217000,3.030000,0.391000,1.000000,1.000000,5.8014
synonymous_variant,PTPRS,SILENT,NM_002850.3:p.Ala87Ala/c.261A>C,gcA/gcC,LOW,,0.163538,0.002,rs1141371,,,,,,chr19,5273571,5273571,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala87Ala/c.261A>C|1948|PTPRS|protein_coding|CODING|NM_002850.3|4|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala87Ala/c.261A>C|1501|PTPRS|protein_coding|CODING|NM_130853.2|4|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala87Ala/c.261A>C|1910|PTPRS|protein_coding|CODING|NM_130854.2|4|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala87Ala/c.261A>C|1505|PTPRS|protein_coding|CODING|NM_130855.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0961,0.1527,0.2266,0.24,0.27,0.22,,,,,,,,,,,,,,,,
missense_variant,ZNRF4,MISSENSE,NM_181710.3:p.Pro37Ser/c.109C>T,Cct/Tct,MODERATE,COSM3757175(4),0.534744,0.756,rs2240743,0.19(T),0.007(B),0.805(L),-1.0670(T),,chr19,5455611,5455611,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro37Ser/c.109C>T|429|ZNRF4|protein_coding|CODING|NM_181710.3|1|1),K562:H3K27me3,,,,0.6207,0.4971,0.5328,0.45,0.33,0.51,,0.380149(U),1.000(P),2.88(T),0.0000(T),0.106,1.931002,1.82,-2.55,0.313000,-0.538000,0.190000,0.047000,0.000000,0.000000,4.0142
missense_variant,ZNRF4,MISSENSE,NM_181710.3:p.Arg78Gln/c.233G>A,cGa/cAa,MODERATE,COSM3757176(1),0.197484,0.3958,rs2240744,0.3(T),0.0(B),0(N),-0.9179(T),,chr19,5455735,5455735,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg78Gln/c.233G>A|429|ZNRF4|protein_coding|CODING|NM_181710.3|1|1),K562:H3K27me3,,,,0.2505,0.1326,0.2157,0.15,0.05,0.19,,0.054827(N),1.000(P),3.66(T),0.0000(T),0.026,0.483220,3.33,-6.66,-2.122000,-1.706000,-2.987000,0.004000,0.001000,0.000000,0.5923
synonymous_variant,ZNRF4,SILENT,NM_181710.3:p.Ala98Ala/c.294A>G,gcA/gcG,LOW,COSM440240(5),0.732029,0.8621,rs420325,,,,,,chr19,5455796,5455796,A,G,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala98Ala/c.294A>G|429|ZNRF4|protein_coding|CODING|NM_181710.3|1|1),K562:H3K27me3,,,,0.6994,0.5908,0.5795,0.64,0.81,0.56,,,,,,,,,,,,,,,,
missense_variant,ZNRF4,MISSENSE,NM_181710.3:p.Val100Ile/c.298G>A,Gta/Ata,MODERATE,,0.0788738,0.1845,rs2240745,0.78(T),0.696(P),0.74(N),-0.9686(T),,chr19,5455800,5455800,G,A,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val100Ile/c.298G>A|429|ZNRF4|protein_coding|CODING|NM_181710.3|1|1),K562:H3K27me3,,,,0.1217,0.0259,0.0656,0.05,0.01,0.06,,0.333510(U),1.000(P),3.59(T),0.0000(T),0.035,0.866465,3.63,3.63,0.313000,1.576000,1.969000,0.006000,0.043000,0.370000,10.79
missense_variant,ZNRF4,MISSENSE,NM_181710.3:p.Ala157Ser/c.469G>T,Gcc/Tcc,MODERATE,COSM3757177(5),0.541733,0.753,rs8103406,0.43(T),0.328(B),0.33(N),-1.0974(T),,chr19,5455971,5455971,G,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala157Ser/c.469G>T|429|ZNRF4|protein_coding|CODING|NM_181710.3|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.6176,0.4971,0.5278,0.45,0.37,0.50,,0.132384(U),1.000(P),3.36(T),0.0000(T),0.047,0.374881,4.65,-2.19,0.491000,-0.062000,0.569000,0.066000,0.000000,0.024000,8.1434
missense_variant,ZNRF4,MISSENSE,NM_181710.3:p.Val159Ala/c.476T>C,gTg/gCg,MODERATE,COSM3757179(4),0.544329,0.752,rs8107825,1(T),0.011(B),0.465(N),-0.9633(T),,chr19,5455978,5455978,T,C,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val159Ala/c.476T>C|429|ZNRF4|protein_coding|CODING|NM_181710.3|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.6176,0.4957,0.5219,0.45,0.38,0.48,,0.006003(N),1.000(P),2.85(T),0.0000(T),0.084,-0.931828,4.65,-3.08,-1.140000,-0.981000,-0.987000,0.006000,0.000000,0.002000,12.8579
synonymous_variant,ZNRF4,SILENT,NM_181710.3:p.Tyr316Tyr/c.948T>C,taT/taC,LOW,COSM3757182(4),0.704673,0.8581,rs386615495,,,,,,chr19,5456450,5456450,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr316Tyr/c.948T>C|429|ZNRF4|protein_coding|CODING|NM_181710.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7045,0.5865,0.5785,0.62,0.73,0.56,,,,,,,,,,,,,,,,
synonymous_variant,LONP1,SILENT,NM_004793.3:p.Thr644Thr/c.1932C>T,acC/acT,LOW,COSM4132657(1),0.199081,0.0913,rs3745624,,,,,,chr19,5696146,5696146,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr580Thr/c.1740C>T|895|LONP1|protein_coding|CODING|NM_001276479.1|14|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr448Thr/c.1344C>T|763|LONP1|protein_coding|CODING|NM_001276480.1|13|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr644Thr/c.1932C>T|959|LONP1|protein_coding|CODING|NM_004793.3|13|1),non_coding_exon_variant(MODIFIER|||n.1756C>T||LONP1||CODING|NR_076392.1|14|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.135,0.2622,0.2386,0.24,0.25,0.24,,,,,,,,,,,,,,,,
synonymous_variant,CATSPERD,SILENT,NM_152784.3:p.Asn657Asn/c.1971C>T,aaC/aaT,LOW,COSM4001008(1),0.0119808,0.004,rs2290778,,,,,,chr19,5776201,5776201,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn657Asn/c.1971C>T|798|CATSPERD|protein_coding|CODING|NM_152784.3|21|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0266,0.0086,0.0209,0.02,0.00,0.03,,,,,,,,,,,,,,,,
synonymous_variant,PRR22,SILENT,NM_001134316.1:p.Pro208Pro/c.624A>G,ccA/ccG,LOW,COSM3757317(1),0.451078,0.5496,rs2446210,,,,,,chr19,5783634,5783634,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro208Pro/c.624A>G|422|PRR22|protein_coding|CODING|NM_001134316.1|3|1),downstream_gene_variant(MODIFIER||1519||408|DUS3L|protein_coding|CODING|NM_001161619.1||1),downstream_gene_variant(MODIFIER||1519||650|DUS3L|protein_coding|CODING|NM_020175.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.2334,0.1928,0.35,0.67,0.19,,,,,,,,,,,,,,,,
missense_variant,DUS3L,MISSENSE,NM_020175.2:p.Arg185Gly/c.553A>G,Agg/Ggg,MODERATE,COSM440483(4),0.460064,0.5496,rs2436487,0.61(T),0.0(B),-1.135(N),-1.0378(T),,chr19,5789565,5789565,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg185Gly/c.553A>G|650|DUS3L|protein_coding|CODING|NM_020175.2|3|1),intron_variant(MODIFIER|||c.174+706A>G|408|DUS3L|protein_coding|CODING|NM_001161619.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.317,0.2349,0.1948,0.34,0.67,0.18,,0.000056(N),0.000(P),2.28(T),0.0000(T),0.073,-0.765146,4.51,4.51,-0.320000,0.902000,2.069000,0.121000,0.894000,0.996000,10.5357
synonymous_variant,DUS3L,SILENT,NM_020175.2:p.Arg178Arg/c.534C>T,cgC/cgT,LOW,COSM3757327(1),0.00978435,0.004,rs45596237,,,,,,chr19,5789584,5789584,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg178Arg/c.534C>T|650|DUS3L|protein_coding|CODING|NM_020175.2|3|1),intron_variant(MODIFIER|||c.174+687C>T|408|DUS3L|protein_coding|CODING|NM_001161619.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,GM06990:H3K36me3",,,,0.0164,0.0086,0.0199,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,FUT6,MISSENSE,NM_000150.2:p.Arg303Gly/c.907C>G,Cgg/Ggg,MODERATE,,0.188698,0.4484,rs61147939,0.31(T),"0.292,0.232(B,B)",2.045(M),-0.9186(T),,chr19,5831672,5831672,G,C,het,"missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg303Gly/c.907C>G|359|FUT6|protein_coding|CODING|NM_000150.2|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg303Gly/c.907C>G|359|FUT6|protein_coding|CODING|NM_001040701.1|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1196,0.2954,0.0736,,,,,0.469400(N),1.000(P),"1.77,1.77,1.77,1.77(T,T,T,T)",0.0000(T),0.279,0.150075,3.03,3.03,0.436000,1.628000,0.461000,0.111000,0.080000,0.000000,8.6736
missense_variant,FUT6,MISSENSE,NM_000150.2:p.Pro124Ser/c.370C>T,Ccg/Tcg,MODERATE,,0.495208,0.6121,rs386613174,0.15(T),"0.102,0.063(B,B)",1.95(M),-0.9912(T),,chr19,5832209,5832209,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro124Ser/c.370C>T|359|FUT6|protein_coding|CODING|NM_000150.2|3|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro124Ser/c.370C>T|359|FUT6|protein_coding|CODING|NM_001040701.1|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.364,0.4928,0.3131,0.42,0.59,0.33,,0.005421(N),1.000(P),"1.86,1.86,1.86,1.86,1.86(T,T,T,T,T)",0.0000(T),0.12,1.286073,3.17,2.11,-2.014000,0.145000,1.907000,0.000000,0.000000,0.573000,12.3946
missense_variant,FUT3,MISSENSE,NM_000149.3:p.Met105Thr/c.314T>C,aTg/aCg,MODERATE,COSM4132684(2),0.888379,0.9692,rs386613195,0.02(D),0.0(B),,-1.0867(T),,chr19,5844537,5844537,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met105Thr/c.314T>C|361|FUT3|protein_coding|CODING|NM_000149.3|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met105Thr/c.314T>C|361|FUT3|protein_coding|CODING|NM_001097639.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met105Thr/c.314T>C|361|FUT3|protein_coding|CODING|NM_001097640.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met105Thr/c.314T>C|361|FUT3|protein_coding|CODING|NM_001097641.1|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8763,0.866,0.8201,0.84,0.89,0.81,,0.000807(D),1.000(P),"1.84,1.84(T,T)",0.0000(T),0.084,0.267302,2.24,-0.403,-0.971000,-0.638000,-0.147000,0.000000,0.000000,0.000000,4.2355
missense_variant,FUT3,MISSENSE,NM_000149.3:p.Arg68Trp/c.202C>T,Cgg/Tgg,MODERATE,COSM3766453(4),0.881589,0.9692,rs386615555,1(T),0.0(B),,-0.9576(T),,chr19,5844649,5844649,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg68Trp/c.202C>T|361|FUT3|protein_coding|CODING|NM_000149.3|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg68Trp/c.202C>T|361|FUT3|protein_coding|CODING|NM_001097639.1|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg68Trp/c.202C>T|361|FUT3|protein_coding|CODING|NM_001097640.1|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg68Trp/c.202C>T|361|FUT3|protein_coding|CODING|NM_001097641.1|2|1)","GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8599,0.8602,0.8111,0.83,0.89,0.80,,0.000032(N),1.000(P),"2.55,2.55(T,T)",0.0000(T),0.125,-1.149919,2.33,2.33,-1.140000,0.116000,2.964000,0.006000,0.470000,0.996000,5.9634
synonymous_variant,FUT5,SILENT,NM_002034.2:p.Ser361Ser/c.1083T>C,tcT/tcC,LOW,COSM4132696(1),0.84345,0.8948,rs778983,,,,,,chr19,5866654,5866654,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser361Ser/c.1083T>C|374|FUT5|protein_coding|CODING|NM_002034.2|2|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8098,0.8386,0.7913,0.81,0.86,0.78,,,,,,,,,,,,,,,,
missense_variant,FUT5,MISSENSE,NM_002034.2:p.His334Arg/c.1001A>G,cAc/cGc,MODERATE,COSM4132697(1),,,rs57100281,1(T),,,-0.9768(T),,chr19,5866736,5866736,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His334Arg/c.1001A>G|374|FUT5|protein_coding|CODING|NM_002034.2|2|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,0.213417(N),1.000(P),2.02(T),0.0000(T),0.068,-1.245517,2.34,1.29,-0.479000,0.321000,-0.273000,0.126000,0.786000,0.000000,4.4537
synonymous_variant,FUT5,SILENT,NM_002034.2:p.Tyr182Tyr/c.546C>T,taC/taT,LOW,,0.0902556,0.0109,rs10412834,,,,,,chr19,5867191,5867191,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr182Tyr/c.546C>T|374|FUT5|protein_coding|CODING|NM_002034.2|2|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.1104,0.1124,0.1531,0.12,0.08,0.14,,,,,,,,,,,,,,,,
missense_variant,VMAC,MISSENSE,NM_001017921.3:p.Arg109His/c.326G>A,cGc/cAc,MODERATE,COSM440565(1),0.104832,0.0119,rs10404195,0.24(T),0.003(B),0.895(L),-1.0629(T),,chr19,5908969,5908969,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg109His/c.326G>A|169|VMAC|protein_coding|CODING|NM_001017921.3|2|1),"HepG2:H3K4me2,HUVEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,HepG2:DNase1,GM06990:H3K36me3",,,,0.0961,0.1311,0.1302,0.14,0.14,0.14,,0.250469(N),1.000(P),,0.0002(T),0.103,-0.033031,4.4,-0.847,-0.448000,0.032000,0.105000,0.091000,0.050000,0.010000,7.651
missense_variant,ACSBG2,MISSENSE,NM_001289177.1:p.Lys152Arg/c.455A>G,aAa/aGa,MODERATE,,0.0495208,0,rs33937754,0.93(T),"0.02,0.029(B,B)",0.87(L),-1.0201(T),,chr19,6156510,6156510,A,G,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys152Arg/c.455A>G|666|ACSBG2|protein_coding|CODING|NM_001289177.1|5|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys152Arg/c.455A>G|666|ACSBG2|protein_coding|CODING|NM_001289178.1|5|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys152Arg/c.455A>G|638|ACSBG2|protein_coding|CODING|NM_001289179.1|5|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys152Arg/c.455A>G|666|ACSBG2|protein_coding|CODING|NM_030924.4|5|1),intron_variant(MODIFIER|||c.-55+4704A>G|479|ACSBG2|protein_coding|CODING|NM_001289180.1|5|1)",HUVEC:H3K27me3,,,,0.0593,0.0677,0.1332,0.11,0.03,0.15,,0.019096(N),0.000(P),2.84(T),0.0001(T),0.071,0.544588,5.9,5.9,0.528000,2.251000,4.329000,0.904000,0.972000,1.000000,14.2842
synonymous_variant,KHSRP,SILENT,NM_003685.2:p.Ala638Ala/c.1914A>G,gcA/gcG,LOW,,0.978235,1,rs1616305,,,,,,chr19,6415443,6415443,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala638Ala/c.1914A>G|711|KHSRP|protein_coding|CODING|NM_003685.2|18|1),downstream_gene_variant(MODIFIER||978|||MIR3940||NON_CODING|NR_037505.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9703,0.9899,0.9871,0.97,0.96,0.98,,,,,,,,,,,,,,,,
missense_variant,DENND1C,MISSENSE,NM_024898.3:p.Arg489Cys/c.1465C>T,Cgc/Tgc,MODERATE,COSM3757389(1),0.00998403,0,rs35001260,0.03(D),0.795(P),1.67(L),-1.1959(T),,chr19,6468907,6468907,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg445Cys/c.1333C>T|757|DENND1C|protein_coding|CODING|NM_001290331.1|18|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg489Cys/c.1465C>T|801|DENND1C|protein_coding|CODING|NM_024898.3|20|1),downstream_gene_variant(MODIFIER||1677||120|CRB3|protein_coding|CODING|NM_139161.3||1),downstream_gene_variant(MODIFIER||1677||123|CRB3|protein_coding|CODING|NM_174881.2||1)","H1ESC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0215,0.0058,0.0229,0.01,0.00,0.02,,0.014059(N),0.999(D),"2.91,2.74(T,T)",0.0236(T),0.359,3.168788,4.69,4.69,0.491000,2.167000,2.749000,0.062000,1.000000,1.000000,13.1025
synonymous_variant,TUBB4A,SILENT,NM_001289123.1:p.Val309Val/c.927T>C,gtT/gtC,LOW,,0.629393,0.4643,rs2071347,,,,,,chr19,6495736,6495736,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val309Val/c.927T>C|495|TUBB4A|protein_coding|CODING|NM_001289123.1|5|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val303Val/c.909T>C|489|TUBB4A|protein_coding|CODING|NM_001289127.1|5|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val258Val/c.774T>C|444|TUBB4A|protein_coding|CODING|NM_001289129.1|5|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val186Val/c.558T>C|372|TUBB4A|protein_coding|CODING|NM_001289130.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val186Val/c.558T>C|372|TUBB4A|protein_coding|CODING|NM_001289131.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val258Val/c.774T>C|444|TUBB4A|protein_coding|CODING|NM_006087.3|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.5644,0.732,0.7038,0.70,0.68,0.70,,,,,,,,,,,,,,,,
synonymous_variant,CD70,SILENT,NM_001252.4:p.Cys115Cys/c.345C>T,tgC/tgT,LOW,COSM4132739(1),0.350639,0.6756,rs1862511,,,,,,chr19,6586268,6586268,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys115Cys/c.345C>T|193|CD70|protein_coding|CODING|NM_001252.4|3|1),"HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,NH-A:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3599,0.2464,0.3022,0.26,0.21,0.29,,,,,,,,,,,,,,,,
missense_variant,TNFSF14,MISSENSE,NM_003807.3:p.Lys214Glu/c.640A>G,Aag/Gag,MODERATE,COSM4132740(1),0.959665,0.9405,rs344560,1(T),"0.0,0.0(B,B)",-0.215(N),-0.9410(T),,chr19,6665020,6665020,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys214Glu/c.640A>G|240|TNFSF14|protein_coding|CODING|NM_003807.3|5|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys178Glu/c.532A>G|204|TNFSF14|protein_coding|CODING|NM_172014.2|5|1)","GM12878:H3K36me3,GM06990:H3K36me3",,,,0.9632,0.9323,0.9483,0.96,0.98,0.94,,0.015629(N),1.000(P),-3.41(D),0.0000(T),0.106,-0.380335,4.46,2.32,-0.215000,0.355000,0.128000,0.586000,0.951000,0.088000,8.467
synonymous_variant,C3,SILENT,NM_000064.2:p.Pro1632Pro/c.4896C>T,ccC/ccT,LOW,COSM3766459(2),0.532947,0.5476,rs17030,,,,,,chr19,6677989,6677989,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1632Pro/c.4896C>T|1663|C3|protein_coding|CODING|NM_000064.2|41|1),"K562:PolII,H1ESC:H3K27me3,H1ESC:DNase1,K562:Znf263,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,K562:Egr1,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K4me2,GM06990:DNase1,K562:DNase1",,,,0.6094,0.5043,0.5109,0.51,0.50,0.52,,,,,,,,,,,,,,,,
synonymous_variant,C3,SILENT,NM_000064.2:p.Ala915Ala/c.2745T>C,gcT/gcC,LOW,,0.814896,0.9127,rs386421605,,,,,,chr19,6697406,6697406,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala915Ala/c.2745T>C|1663|C3|protein_coding|CODING|NM_000064.2|21|1),"HMEC:H3K36me3,HepG2:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8139,0.866,0.7664,0.76,0.76,0.75,,,,,,,,,,,,,,,,
synonymous_variant,C3,SILENT,NM_000064.2:p.Val807Val/c.2421G>C,gtG/gtC,LOW,COSM3757394(1),0.732428,0.8512,rs428453,,,,,,chr19,6702157,6702157,C,G,hom,synonymous_variant(LOW|SILENT|gtG/gtC|p.Val807Val/c.2421G>C|1663|C3|protein_coding|CODING|NM_000064.2|19|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7219,0.7695,0.6272,0.65,0.70,0.62,,,,,,,,,,,,,,,,
synonymous_variant,C3,SILENT,NM_000064.2:p.Val564Val/c.1692G>A,gtG/gtA,LOW,COSM4001040(1),0.435304,0.4613,rs2230204,,,,,,chr19,6709848,6709848,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val564Val/c.1692G>A|1663|C3|protein_coding|CODING|NM_000064.2|14|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.4591,0.3718,0.2823,0.36,0.53,0.27,,,,,,,,,,,,,,,,
synonymous_variant,C3,SILENT,NM_000064.2:p.Pro518Pro/c.1554C>A,ccC/ccA,LOW,,0.0636981,0.003,rs2230203,,,,,,chr19,6710782,6710782,G,T,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro518Pro/c.1554C>A|1663|C3|protein_coding|CODING|NM_000064.2|13|1),"NHEK:CTCF,GM06990:H3K27me3,HUVEC:H3K27me3,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:CTCF,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,H1ESC:CTCF,GM06990:CTCF",,,,0.0613,0.0807,0.1859,0.13,0.04,0.18,,,,,,,,,,,,,,,,
missense_variant,C3,MISSENSE,NM_000064.2:p.Pro314Leu/c.941C>T,cCc/cTc,MODERATE,,0.0698882,0.003,rs1047286,0.48(T),0.138(B),1.67(L),-1.0319(T),,chr19,6713262,6713262,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro314Leu/c.941C>T|1663|C3|protein_coding|CODING|NM_000064.2|9|1),"HepG2:PolII,NHEK:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000018586.1,,0.0706,0.0865,0.2048,0.15,0.04,0.20,,0.814950(N),1.000(P),1.4(T),0.0001(T),0.119,2.063821,5.04,2.84,0.484000,1.071000,0.635000,0.007000,0.004000,0.000000,7.2662
missense_variant,C3,MISSENSE,NM_000064.2:p.Arg102Gly/c.304C>G,Cgc/Ggc,MODERATE,COSM3757395(1),0.0872604,0.003,rs2230199,0.41(T),0.0(B),0.69(N),-1.0019(T),,chr19,6718387,6718387,G,C,het,missense_variant(MODERATE|MISSENSE|Cgc/Ggc|p.Arg102Gly/c.304C>G|1663|C3|protein_coding|CODING|NM_000064.2|3|1),"K562:H3K4me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K4me2,K562:H2AZ,K562:DNase1","Age_related_macular_degeneration,Age_related_macular_degeneration_CNV,Age_related_macular_degeneration_GA,Age_related_macular_degeneration,Age_related_macular_degeneration,Age_related_macular_degeneration,Age_related_macular_degeneration",RCV000018584.3|RCV000018585.3,,0.1033,0.0965,0.2207,0.15,0.05,0.21,,0.000045(N),1.000(P),1.41(T),0.0000(T),0.183,0.596056,4.78,-0.589,0.298000,0.005000,-0.229000,0.031000,0.000000,0.010000,14.3288
synonymous_variant,GPR108,SILENT,NM_001080452.1:p.Gly500Gly/c.1500A>G,ggA/ggG,LOW,,0.741414,0.6687,rs2279624,,,,,,chr19,6731057,6731057,T,C,het,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly500Gly/c.1500A>G|543|GPR108|protein_coding|CODING|NM_001080452.1|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6227,0.7536,0.8181,0.80,0.81,0.80,,,,,,,,,,,,,,,,
missense_variant,GPR108,MISSENSE,NM_001080452.1:p.Gln36Arg/c.107A>G,cAg/cGg,MODERATE,COSM3757397(8),0.886581,0.9861,rs340138,0.51(T),0.0(B),-2.14(N),-0.9729(T),,chr19,6737481,6737481,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln36Arg/c.107A>G|543|GPR108|protein_coding|CODING|NM_001080452.1|1|1),upstream_gene_variant(MODIFIER||692|||MIR6791||NON_CODING|NR_106849.1||1)","K562:ZBTB7A,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,HepG2:p300,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K9ac,H1ESC:SP1,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,GM12878:p300,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,GM12878:Cfos,H1ESC:p300,HepG2:TAF1,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,HepG2:Jund,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.8088,0.9236,0.8936,0.89,0.88,0.89,,0.029139(N),0.000(P),2.05(T),0.0000(T),0.044,0.128956,4.2,3.1,-0.215000,0.997000,0.194000,0.926000,1.000000,0.989000,5.3586
synonymous_variant,GPR108,SILENT,NM_001080452.1:p.Leu27Leu/c.79C>T,Ctg/Ttg,LOW,COSM3749573(11),0.905551,0.9861,rs339401,,,,-1.0760(T),,chr19,6737509,6737509,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu27Leu/c.79C>T|543|GPR108|protein_coding|CODING|NM_001080452.1|1|1),upstream_gene_variant(MODIFIER||720|||MIR6791||NON_CODING|NR_106849.1||1)","K562:ZBTB7A,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,HepG2:p300,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,K562:SP2,HUVEC:H3K9ac,H1ESC:SP1,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,GM12878:ELF1,HepG2:SP1,K562:Cfos,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,GM12878:p300,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,GM12878:Cfos,H1ESC:p300,HepG2:TAF1,H1ESC:Jund,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,HepG2:Jund,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,0.8088,0.9265,0.8956,0.90,0.92,0.89,,,1.000(P),,0.0000(T),.,-0.270715,4.1,-6.16,-2.198000,-1.986000,-0.806000,0.214000,0.001000,0.000000,12.6173
missense_variant,TRIP10,MISSENSE,NM_001288962.1:p.Val341Ile/c.1021G>A,Gta/Ata,MODERATE,,0.0105831,0,rs144735071,0.46(T),0.0(B),,-1.0831(T),,chr19,6746076,6746076,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val341Ile/c.1021G>A|601|TRIP10|protein_coding|CODING|NM_001288962.1|10|1),intron_variant(MODIFIER|||n.1065-113G>A||TRIP10||CODING|NR_110231.1|9|1),intron_variant(MODIFIER|||c.985-387G>A|593|TRIP10|protein_coding|CODING|NM_001288963.1|9|1),intron_variant(MODIFIER|||c.985-387G>A|545|TRIP10|protein_coding|CODING|NM_004240.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0368,0.0072,0.0109,,,,,0.492533(N),1.000(D),2.11(T),0.0256(T),0.044,0.896640,4.15,3.09,0.187000,0.716000,1.781000,0.556000,1.000000,0.999000,11.4241
synonymous_variant,SH2D3A,SILENT,NM_005490.2:p.Thr272Thr/c.816A>G,acA/acG,LOW,,0.33746,0.37,rs2305806,,,,,,chr19,6755007,6755007,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr272Thr/c.816A>G|576|SH2D3A|protein_coding|CODING|NM_005490.2|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1646,0.3213,0.2783,0.34,0.45,0.28,,,,,,,,,,,,,,,,
missense_variant,SH2D3A,MISSENSE,NM_005490.2:p.Asp223Gly/c.668A>G,gAt/gGt,MODERATE,COSM3736209(1),0.0670927,0.0546,rs12608960,0.4(T),"0.616,0.05(P,B)",1.87(L),-1.0597(T),,chr19,6755155,6755155,T,C,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp223Gly/c.668A>G|576|SH2D3A|protein_coding|CODING|NM_005490.2|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0378,0.0432,0.0845,0.10,0.10,0.10,,0.662788(N),1.000(P),"2.57,1.4(T,T)",0.0035(T),0.078,0.830488,4.1,1.83,0.379000,1.492000,3.891000,0.158000,0.357000,0.635000,4.8882
missense_variant,SH2D3A,MISSENSE,NM_005490.2:p.Arg157Gln/c.470G>A,cGg/cAg,MODERATE,,0.0155751,0,rs386495645,0.56(T),"0.001,0.001(B,B)",1.5(L),-1.0461(T),,chr19,6759631,6759631,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg157Gln/c.470G>A|576|SH2D3A|protein_coding|CODING|NM_005490.2|4|1),"H1ESC:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0187,0.0427,0.03,0.01,0.04,,0.158856(N),1.000(N),"2.62,1.47(T,T)",0.0153(T),0.025,0.450966,3.6,-7.19,-0.368000,-2.779000,-3.260000,0.331000,0.000000,0.000000,9.9466
missense_variant,SH2D3A,MISSENSE,NM_005490.2:p.Asn32Asp/c.94A>G,Aat/Gat,MODERATE,COSM4132744(1),0.260383,0.0565,rs7258236,1(T),0.001(B),-0.94(N),-0.9612(T),,chr19,6760974,6760974,T,C,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn32Asp/c.94A>G|576|SH2D3A|protein_coding|CODING|NM_005490.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,K562:ELF1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.1571,0.2247,0.28,0.42,0.22,,0.000482(N),0.000(P),0.24(T),0.0000(T),0.007,-0.386345,4.81,3.74,-0.222000,1.285000,0.652000,0.840000,0.940000,0.356000,7.1734
synonymous_variant,SH2D3A,SILENT,NM_005490.2:p.Pro14Pro/c.42T>C,ccT/ccC,LOW,,0.260184,0.0565,rs2305805,,0.0(B),,-0.9060(T),,chr19,6763718,6763718,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro14Pro/c.42T>C|576|SH2D3A|protein_coding|CODING|NM_005490.2|2|1),"H1ESC:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.1571,0.2247,0.29,0.42,0.22,,,0.000(P),1.46(T),0.0000(T),.,0.837313,4.21,2.03,-0.119000,0.175000,0.586000,0.453000,0.998000,1.000000,4.1083
missense_variant,EMR1,MISSENSE,NM_001974.4:p.Ala57Thr/c.169G>A,Gct/Act,MODERATE,COSM3757398(1),0.338059,0.3403,rs330877,0.99(T),"0.0,0.001,0.001,0.0,0.001(B,B,B,B,B)",-1.415(N),-1.0974(T),,chr19,6896483,6896483,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala57Thr/c.169G>A|867|EMR1|protein_coding|CODING|NM_001256252.1|3|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala57Thr/c.169G>A|821|EMR1|protein_coding|CODING|NM_001256253.1|3|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala57Thr/c.169G>A|745|EMR1|protein_coding|CODING|NM_001256254.1|3|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala57Thr/c.169G>A|709|EMR1|protein_coding|CODING|NM_001256255.1|3|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala57Thr/c.169G>A|886|EMR1|protein_coding|CODING|NM_001974.4|3|1)",CD4:H3K36me3,,,,0.2986,0.3934,0.2674,0.32,0.36,0.29,,,1.000(P),"-2.93,-2.93,-2.93,-2.93,-2.93(D,D,D,D,D)",0.0000(T),0.036,-1.200768,3.91,-3.26,-2.703000,-1.051000,-1.030000,0.000000,0.000000,0.000000,4.3996
missense_variant,EMR1,MISSENSE,NM_001974.4:p.Ile424Val/c.1270A>G,Atc/Gtc,MODERATE,,0.706669,0.7679,rs457857,0.33(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.79(N),-0.9652(T),,chr19,6913811,6913811,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile372Val/c.1114A>G|867|EMR1|protein_coding|CODING|NM_001256252.1|10|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile424Val/c.1270A>G|821|EMR1|protein_coding|CODING|NM_001256253.1|11|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile283Val/c.847A>G|745|EMR1|protein_coding|CODING|NM_001256254.1|8|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile247Val/c.739A>G|709|EMR1|protein_coding|CODING|NM_001256255.1|8|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile424Val/c.1270A>G|886|EMR1|protein_coding|CODING|NM_001974.4|11|1)",,,,,0.7474,0.7695,0.7445,0.71,0.60,0.76,,,1.000(P),"-1.07,-1.1,-1.11,0.08,0.4(T,T,T,T,T)",0.0000(T),0.017,-0.433599,4.95,-1.87,-0.215000,-0.359000,-1.408000,0.001000,0.000000,0.000000,5.3598
missense_variant,EMR1,MISSENSE,NM_001974.4:p.Lys496Gln/c.1486A>C,Aaa/Caa,MODERATE,,0.725839,0.7867,rs373533,0.58(T),"0.0,0.002,0.0,0.0,0.0(B,B,B,B,B)",-0.92(N),-0.9798(T),,chr19,6919624,6919624,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys444Gln/c.1330A>C|867|EMR1|protein_coding|CODING|NM_001256252.1|12|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys496Gln/c.1486A>C|821|EMR1|protein_coding|CODING|NM_001256253.1|13|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys355Gln/c.1063A>C|745|EMR1|protein_coding|CODING|NM_001256254.1|10|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys319Gln/c.955A>C|709|EMR1|protein_coding|CODING|NM_001256255.1|10|1),missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys496Gln/c.1486A>C|886|EMR1|protein_coding|CODING|NM_001974.4|13|1)",,,,,0.7556,0.7968,0.7604,0.73,0.61,0.79,,,1.000(P),"-1.17,-1.19,-1.23,-0.01,0.31(T,T,T,T,T)",0.0000(T),0.072,-1.143794,3.99,0.497,-0.323000,0.087000,-1.016000,0.007000,0.175000,0.000000,1.9899
missense_variant,EMR1,MISSENSE,NM_001974.4:p.Ile539Val/c.1615A>G,Att/Gtt,MODERATE,,0.721246,0.7808,rs461645,0.69(T),"0.002,0.002,0.002,0.007,0.001(B,B,B,B,B)",0.895(L),-0.9572(T),,chr19,6919753,6919753,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile487Val/c.1459A>G|867|EMR1|protein_coding|CODING|NM_001256252.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile539Val/c.1615A>G|821|EMR1|protein_coding|CODING|NM_001256253.1|13|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile398Val/c.1192A>G|745|EMR1|protein_coding|CODING|NM_001256254.1|10|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile362Val/c.1084A>G|709|EMR1|protein_coding|CODING|NM_001256255.1|10|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile539Val/c.1615A>G|886|EMR1|protein_coding|CODING|NM_001974.4|13|1)",,,,,0.7413,0.7997,0.7584,0.73,0.61,0.79,,,1.000(P),"-1.15,-1.19,-1.18,-0.0,0.32(T,T,T,T,T)",0.0000(T),0.057,1.021348,3.58,-0.139,0.260000,-0.217000,0.955000,0.824000,0.121000,0.299000,9.2586
missense_variant,EMR1,MISSENSE,NM_001974.4:p.Met663Thr/c.1988T>C,aTg/aCg,MODERATE,,0.319688,0.0337,rs2228539,0.02(D),"0.0,0.001,0.382,0.001,0.0(B,B,B,B,B)",-1.42(N),-0.9025(T),,chr19,6926378,6926378,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met611Thr/c.1832T>C|867|EMR1|protein_coding|CODING|NM_001256252.1|15|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met598Thr/c.1793T>C|821|EMR1|protein_coding|CODING|NM_001256253.1|15|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met522Thr/c.1565T>C|745|EMR1|protein_coding|CODING|NM_001256254.1|13|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met486Thr/c.1457T>C|709|EMR1|protein_coding|CODING|NM_001256255.1|13|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met663Thr/c.1988T>C|886|EMR1|protein_coding|CODING|NM_001974.4|16|1),splice_region_variant(LOW|||c.1832T>C|867|EMR1|protein_coding|CODING|NM_001256252.1|15|1),splice_region_variant(LOW|||c.1793T>C|821|EMR1|protein_coding|CODING|NM_001256253.1|15|1),splice_region_variant(LOW|||c.1565T>C|745|EMR1|protein_coding|CODING|NM_001256254.1|13|1),splice_region_variant(LOW|||c.1457T>C|709|EMR1|protein_coding|CODING|NM_001256255.1|13|1),splice_region_variant(LOW|||c.1988T>C|886|EMR1|protein_coding|CODING|NM_001974.4|16|1)","GM12878:H3K4me3,CD4:DNase1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HepG2:CTCF,GM12878:Rad21,GM12878:DNase1,HepG2:H3K27me3,GM12878:H2AZ,GM06990:CTCF",,,,0.1708,0.3746,0.2694,0.38,0.58,0.28,,,1.000(P),"1.3,1.3,1.3,1.3,1.3(T,T,T,T,T)",0.0000(T),0.026,-0.274379,4.18,-8.35,-1.922000,-2.524000,-1.007000,0.389000,0.000000,0.000000,16.3517
synonymous_variant,ZNF557,SILENT,NM_001044387.1:p.Ser389Ser/c.1167A>G,tcA/tcG,LOW,,0.445687,0.5218,rs966591,,,,,,chr19,7083629,7083629,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser389Ser/c.1167A>G|430|ZNF557|protein_coding|CODING|NM_001044387.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser382Ser/c.1146A>G|423|ZNF557|protein_coding|CODING|NM_001044388.1|8|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser389Ser/c.1167A>G|430|ZNF557|protein_coding|CODING|NM_024341.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:SETDB1,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3384,0.438,0.3777,0.43,0.50,0.39,,,,,,,,,,,,,,,,
synonymous_variant,INSR,SILENT,NM_000208.2:p.His1085His/c.3255C>T,caC/caT,LOW,COSM4001047(1),0.292532,0.4464,rs1799817,,,,,,chr19,7125297,7125297,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His1085His/c.3255C>T|1382|INSR|protein_coding|CODING|NM_000208.2|17|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1073His/c.3219C>T|1370|INSR|protein_coding|CODING|NM_001079817.1|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3405,0.232,0.2157,0.19,0.22,0.18,,,,,,,,,,,,,,,,
missense_variant,INSR,MISSENSE,NM_000208.2:p.Ala2Gly/c.5C>G,gCc/gGc,MODERATE,,1,1,rs7508518,1(T),"0.0,0.0(B,B)",-0.895(N),-0.9611(T),,chr19,7293898,7293898,G,C,hom,"missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala2Gly/c.5C>G|1382|INSR|protein_coding|CODING|NM_000208.2|1|1),missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala2Gly/c.5C>G|1370|INSR|protein_coding|CODING|NM_001079817.1|1|1)","K562:H3K4me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,1.000(P),"-0.92,-0.93(T,T)",0.0000(T),0.148,-1.109605,2.59,2.59,-0.676000,0.378000,1.188000,0.007000,0.540000,0.981000,7.872
synonymous_variant,ARHGEF18,SILENT,NM_001130955.1:p.Gly52Gly/c.156C>T,ggC/ggT,LOW,COSM440620(3),0.344848,0.4196,rs10422503,,,,,,chr19,7504982,7504982,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly52Gly/c.156C>T|1173|ARHGEF18|protein_coding|CODING|NM_001130955.1|1|1),intron_variant(MODIFIER|||c.-71-248C>T|1015|ARHGEF18|protein_coding|CODING|NM_015318.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4233,0.4078,0.326,,,,,,,,,,,,,,,,,,,
missense_variant,ARHGEF18,MISSENSE,NM_001130955.1:p.Gln701Arg/c.2102A>G,cAg/cGg,MODERATE,,0.832468,0.8333,rs2287918,0.71(T),"0.001,0.0(B,B)",0.665(N),-1.0212(T),,chr19,7528734,7528734,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln701Arg/c.2102A>G|1173|ARHGEF18|protein_coding|CODING|NM_001130955.1|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln543Arg/c.1628A>G|1015|ARHGEF18|protein_coding|CODING|NM_015318.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8098,0.7637,0.7425,0.81,0.93,0.75,,0.719533(N),1.000(P),"2.21,2.21(T,T)",0.0000(T),0.015,-0.916493,5.05,-6.09,-0.993000,-1.310000,-0.215000,0.086000,0.398000,0.030000,11.4213
synonymous_variant,ARHGEF18,SILENT,NM_001130955.1:p.Arg991Arg/c.2973T>G,cgT/cgG,LOW,COSM3933235(2),0.790535,0.8115,rs10405143,,,,,,chr19,7533767,7533767,T,G,het,"synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg991Arg/c.2973T>G|1173|ARHGEF18|protein_coding|CODING|NM_001130955.1|17|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg833Arg/c.2499T>G|1015|ARHGEF18|protein_coding|CODING|NM_015318.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7352,0.7435,0.7256,0.77,0.87,0.72,,,,,,,,,,,,,,,,
missense_variant,ARHGEF18,MISSENSE,NM_001130955.1:p.Asn1019Ser/c.3056A>G,aAc/aGc,MODERATE,COSM440622(2),0.834265,0.8433,rs9329368,0.83(T),"0.0,0.0(B,B)",-0.755(N),-0.9967(T),,chr19,7533850,7533850,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn1019Ser/c.3056A>G|1173|ARHGEF18|protein_coding|CODING|NM_001130955.1|17|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn861Ser/c.2582A>G|1015|ARHGEF18|protein_coding|CODING|NM_015318.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8098,0.7608,0.7445,0.81,0.93,0.75,,0.923776(N),1.000(P),"1.66,1.64(T,T)",0.0000(T),0.003,-1.634801,4.24,3.16,-0.213000,0.252000,0.158000,0.182000,0.394000,0.159000,3.0267
synonymous_variant,C19orf45,SILENT,NM_198534.2:p.Pro378Pro/c.1134T>C,ccT/ccC,LOW,COSM4132759(1),0.636781,0.4544,rs685034,,,,,,chr19,7570978,7570978,T,C,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro378Pro/c.1134T>C|505|C19orf45|protein_coding|CODING|NM_198534.2|7|1),"HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,HeLa-S3:DNase1,K562:PolII,K562:H3K27ac,HeLa-S3:Max,K562:Nfe2,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:USF1,H1ESC:H3K4me3,HUVEC:DNase1,K562:USF1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,HeLa-S3:Ap2gamma,IMR90:H3K27me3,H1ESC:Nrsf,HepG2:DNase1,HeLa-S3:H3K4me3,K562:Nrsf,K562:H3K4me2,K562:H2AZ,K562:DNase1,GM12878:Sin3Ak20",,,,0.6176,0.5692,0.6889,0.69,0.74,0.66,,,,,,,,,,,,,,,,
missense_variant,ZNF358,MISSENSE,NM_018083.4:p.Asn32Ser/c.95A>G,aAt/aGt,MODERATE,,0.195487,0.1042,rs11555037,0.72(T),0.001(B),0(N),-0.9202(T),,chr19,7584223,7584223,A,G,het,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn32Ser/c.95A>G|568|ZNF358|protein_coding|CODING|NM_018083.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.2914,0.1772,0.326,0.24,0.12,0.30,,,1.000(P),3.41(T),0.0000(T),0.017,-1.982298,4.73,0.314,0.456000,0.078000,0.385000,0.186000,0.003000,0.000000,7.971
synonymous_variant,PNPLA6,SILENT,NM_001166111.1:p.Asn264Asn/c.792C>T,aaC/aaT,LOW,,0.0670927,0.0069,rs591040,,,,,,chr19,7605566,7605566,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn264Asn/c.792C>T|1375|PNPLA6|protein_coding|CODING|NM_001166111.1|8|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn216Asn/c.648C>T|1300|PNPLA6|protein_coding|CODING|NM_001166112.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn216Asn/c.648C>T|1327|PNPLA6|protein_coding|CODING|NM_001166113.1|9|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn255Asn/c.765C>T|1365|PNPLA6|protein_coding|CODING|NM_001166114.1|6|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn216Asn/c.648C>T|1327|PNPLA6|protein_coding|CODING|NM_006702.4|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000118000.2,,0.1104,0.1643,0.1034,0.07,0.02,0.10,,,,,,,,,,,,,,,,
synonymous_variant,XAB2,SILENT,NM_020196.2:p.Thr620Thr/c.1860C>T,acC/acT,LOW,COSM440638(1),0.147364,0.1062,rs386614239,,,,,,chr19,7685843,7685843,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr620Thr/c.1860C>T|855|XAB2|protein_coding|CODING|NM_020196.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1176,0.183,0.2376,0.18,0.14,0.20,,,,,,,,,,,,,,,,
missense_variant,STXBP2,MISSENSE,NM_001272034.1:p.Ile537Val/c.1609A>G,Ata/Gta,MODERATE,COSM440643(3),0.70607,0.8185,rs6791,0.68(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.445(N),-0.9916(T),,chr19,7712277,7712277,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile523Val/c.1567A>G|590|STXBP2|protein_coding|CODING|NM_001127396.2|18|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile537Val/c.1609A>G|604|STXBP2|protein_coding|CODING|NM_001272034.1|18|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile526Val/c.1576A>G|593|STXBP2|protein_coding|CODING|NM_006949.3|18|1),non_coding_exon_variant(MODIFIER|||n.1600A>G||STXBP2||CODING|NR_073560.1|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5112,0.6859,0.664,0.67,0.77,0.61,,0.411628(N),1.000(P),"-0.99,-0.99,-0.99(T,T,T)",0.0000(T),0.025,-1.105234,5.26,-0.767,-2.371000,-0.523000,-0.176000,0.000000,0.000000,0.000000,6.8461
missense_variant,TRAPPC5,MISSENSE,NM_001042461.2:p.Ser52Ala/c.154T>G,Tcg/Gcg,MODERATE,COSM440646(14),0.358027,0.2669,rs6952,0.64(T),0.002(B),-0.395(N),-0.9194(T),,chr19,7747293,7747293,T,G,het,"missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser52Ala/c.154T>G|188|TRAPPC5|protein_coding|CODING|NM_001042461.2|2|1),missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser52Ala/c.154T>G|188|TRAPPC5|protein_coding|CODING|NM_001042462.1|2|1),missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser52Ala/c.154T>G|188|TRAPPC5|protein_coding|CODING|NM_174894.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.3037,0.2089,0.3231,0.33,0.45,0.27,,0.000567(N),1.000(P),"1.04,1.04(T,T)",0.0000(T),0.026,1.040448,4.09,3.04,-0.224000,0.725000,1.119000,0.606000,1.000000,0.919000,6.0462
synonymous_variant,TRAPPC5,SILENT,NM_001042461.2:p.Ala102Ala/c.306G>A,gcG/gcA,LOW,COSM3718541(4),0.243011,0.127,rs1053363,,,,,,chr19,7747445,7747445,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala102Ala/c.306G>A|188|TRAPPC5|protein_coding|CODING|NM_001042461.2|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala102Ala/c.306G>A|188|TRAPPC5|protein_coding|CODING|NM_001042462.1|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala102Ala/c.306G>A|188|TRAPPC5|protein_coding|CODING|NM_174894.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2628,0.1326,0.174,0.24,0.39,0.16,,,,,,,,,,,,,,,,
synonymous_variant,FCER2,SILENT,NM_001220500.1:p.His239His/c.717C>T,caC/caT,LOW,COSM1397653(3),0.398363,0.3403,rs2228138,,,,,,chr19,7755056,7755056,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His238His/c.714C>T|320|FCER2|protein_coding|CODING|NM_001207019.2|9|1),synonymous_variant(LOW|SILENT|caC/caT|p.His239His/c.717C>T|321|FCER2|protein_coding|CODING|NM_001220500.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His239His/c.717C>T|321|FCER2|protein_coding|CODING|NM_002002.4|10|1)","GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4274,0.2176,0.2843,0.37,0.54,0.29,,,,,,,,,,,,,,,,
missense_variant,FCER2,MISSENSE,NM_001220500.1:p.Arg62Trp/c.184C>T,Cgg/Tgg,MODERATE,,0.203674,0.0813,rs2228137,0.01(D),"0.636,0.432(P,B)",0(N),-0.8091(T),,chr19,7763248,7763248,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg61Trp/c.181C>T|320|FCER2|protein_coding|CODING|NM_001207019.2|3|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg62Trp/c.184C>T|321|FCER2|protein_coding|CODING|NM_001220500.1|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg62Trp/c.184C>T|321|FCER2|protein_coding|CODING|NM_002002.4|4|1)","HUVEC:H3K27me3,GM12878:H3K4me3,GM12878:H3K36me3,H1ESC:H3K27me3,GM12878:H3K79me2,GM06990:H3K4me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2894,0.0879,0.1421,0.20,0.30,0.14,,0.656637(N),1.000(P),"4.15,4.15(T,T)",0.0000(T),0.093,2.553764,4.24,3.19,0.655000,1.357000,1.486000,0.016000,0.003000,0.005000,9.5199
synonymous_variant,CLEC4G,SILENT,NM_198492.3:p.Ala80Ala/c.240G>T,gcG/gcT,LOW,,0.0814696,0,rs8112382,,,,,,chr19,7795955,7795955,C,A,het,"synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala68Ala/c.204G>T|281|CLEC4G|protein_coding|CODING|NM_001244856.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala80Ala/c.240G>T|293|CLEC4G|protein_coding|CODING|NM_198492.3|4|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0358,0.0432,0.005,0.07,0.21,0.01,,,,,,,,,,,,,,,,
synonymous_variant,CLEC4M,SILENT,NM_014257.4:p.Lys246Lys/c.738G>A,aaG/aaA,LOW,COSM3757412(2),0.0617013,0.0506,rs868878,,,,,,chr19,7831047,7831047,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys218Lys/c.654G>A|296|CLEC4M|protein_coding|CODING|NM_001144911.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys246Lys/c.738G>A|399|CLEC4M|protein_coding|CODING|NM_014257.4|4|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys195Lys/c.585G>A|348|CLEC4M|protein_coding|CODING|NM_001144904.1|4|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys222Lys/c.666G>A|375|CLEC4M|protein_coding|CODING|NM_001144905.1|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys223Lys/c.669G>A|376|CLEC4M|protein_coding|CODING|NM_001144910.1|5|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys200Lys/c.600G>A|353|CLEC4M|protein_coding|CODING|NM_001144909.1|5|1),intron_variant(MODIFIER|||c.376+299G>A|263|CLEC4M|protein_coding|CODING|NM_001144906.1|3|1),intron_variant(MODIFIER|||c.508+230G>A|232|CLEC4M|protein_coding|CODING|NM_001144908.1|4|1),intron_variant(MODIFIER|||c.583+92G>A|332|CLEC4M|protein_coding|CODING|NM_001144907.1|3|1),non_coding_exon_variant(MODIFIER|||n.793G>A||CLEC4M||CODING|NR_026709.1|3|1),non_coding_exon_variant(MODIFIER|||n.856G>A||CLEC4M||CODING|NR_026707.1|4|1),non_coding_exon_variant(MODIFIER|||n.856G>A||CLEC4M||CODING|NR_026708.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0368,0.0807,0.1551,0.10,0.03,0.13,,,,,,,,,,,,,,,,
missense_variant,CLEC4M,MISSENSE,NM_014257.4:p.Asp291Asn/c.871G>A,Gac/Aac,MODERATE,COSM1631161(1),0.177117,0.1389,rs2277998,0.16(T),"0.014,0.004,0.012,0.027,0.002,0.008,0.017,0.013(B,B,B,B,B,B,B,B)",2.07(M),-1.0132(T),,chr19,7831628,7831628,G,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp240Asn/c.718G>A|348|CLEC4M|protein_coding|CODING|NM_001144904.1|5|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp267Asn/c.799G>A|375|CLEC4M|protein_coding|CODING|NM_001144905.1|6|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp155Asn/c.463G>A|263|CLEC4M|protein_coding|CODING|NM_001144906.1|4|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp224Asn/c.670G>A|332|CLEC4M|protein_coding|CODING|NM_001144907.1|4|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp199Asn/c.595G>A|232|CLEC4M|protein_coding|CODING|NM_001144908.1|5|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp245Asn/c.733G>A|353|CLEC4M|protein_coding|CODING|NM_001144909.1|6|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp268Asn/c.802G>A|376|CLEC4M|protein_coding|CODING|NM_001144910.1|6|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp263Asn/c.787G>A|296|CLEC4M|protein_coding|CODING|NM_001144911.1|4|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp291Asn/c.871G>A|399|CLEC4M|protein_coding|CODING|NM_014257.4|5|1),non_coding_exon_variant(MODIFIER|||n.1374G>A||CLEC4M||CODING|NR_026709.1|3|1),non_coding_exon_variant(MODIFIER|||n.1437G>A||CLEC4M||CODING|NR_026707.1|4|1),non_coding_exon_variant(MODIFIER|||n.1437G>A||CLEC4M||CODING|NR_026708.1|4|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1902,0.3573,0.2962,0.23,0.07,0.31,,,1.000(P),"2.1,2.1,2.1,2.1,2.1,2.1(T,T,T,T,T,T)",0.0000(T),0.041,-0.140125,2.57,-5.14,-3.689000,-3.295000,-2.143000,0.001000,0.000000,0.000000,1.8763
synonymous_variant,EVI5L,SILENT,NM_001159944.2:p.His165His/c.495T>C,caT/caC,LOW,COSM4132774(1),0.701677,0.5923,rs386599004,,,,,,chr19,7913974,7913974,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His165His/c.495T>C|805|EVI5L|protein_coding|CODING|NM_001159944.2|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His165His/c.495T>C|794|EVI5L|protein_coding|CODING|NM_145245.4|4|1)","GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8538,0.8141,0.7565,0.72,0.62,0.76,,,,,,,,,,,,,,,,
synonymous_variant,EVI5L,SILENT,NM_001159944.2:p.Ala317Ala/c.951A>G,gcA/gcG,LOW,COSM4132775(1),0.767772,0.7014,rs580790,,,,,,chr19,7916620,7916620,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala317Ala/c.951A>G|805|EVI5L|protein_coding|CODING|NM_001159944.2|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala317Ala/c.951A>G|794|EVI5L|protein_coding|CODING|NM_145245.4|8|1)","K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8824,0.8473,0.8429,0.79,0.68,0.85,,,,,,,,,,,,,,,,
synonymous_variant,EVI5L,SILENT,NM_001159944.2:p.Tyr764Tyr/c.2292T>C,taT/taC,LOW,COSM4132777(1),0.9998,0.999,rs10410459,,,,,,chr19,7928462,7928462,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr764Tyr/c.2292T>C|805|EVI5L|protein_coding|CODING|NM_001159944.2|19|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr753Tyr/c.2259T>C|794|EVI5L|protein_coding|CODING|NM_145245.4|19|1)","HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,NH-A:H3K27me3,H1ESC:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,FLJ22184,MISSENSE,NM_001190467.1:p.Leu832Pro/c.2495T>C,cTc/cCc,MODERATE,COSM4132780(2),0.148762,0.0992,rs73500091,,,,,,chr19,7935634,7935634,A,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu832Pro/c.2495T>C|1345|FLJ22184|protein_coding|CODING|NM_001190467.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.832-831T>C||FLJ22184||CODING|NR_104345.1|5|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,H1ESC:DNase1,HUVEC:DNase1,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.0501,0.1254,0.159,,,,,,,,,,,,,,,,,,,
missense_variant,FLJ22184,MISSENSE,NM_001190467.1:p.Ser641Pro/c.1921T>C,Tct/Cct,MODERATE,COSM4132790(1),0.526957,0.4623,rs525420,0.54(T),,0.345(N),-0.9296(T),,chr19,7936208,7936208,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser641Pro/c.1921T>C|1345|FLJ22184|protein_coding|CODING|NM_001190467.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.831+983T>C||FLJ22184||CODING|NR_104345.1|5|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:DNase1,HepG2:H3K27ac,H1ESC:DNase1,HUVEC:DNase1,HepG2:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.7689,0.67,0.5577,,,,,,1.000(P),,0.0000(T),0.077,0.058671,2.78,-3.84,-1.140000,-1.061000,0.237000,0.003000,0.000000,0.000000,0.9607
synonymous_variant,LRRC8E,SILENT,NM_001268284.2:p.Val169Val/c.507A>C,gtA/gtC,LOW,COSM4132791(1),0.992812,0.9702,rs524029,,,,,,chr19,7963914,7963914,A,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtC|p.Val169Val/c.507A>C|796|LRRC8E|protein_coding|CODING|NM_001268284.2|4|1),synonymous_variant(LOW|SILENT|gtA/gtC|p.Val40Val/c.120A>C|667|LRRC8E|protein_coding|CODING|NM_001268285.2|2|1),synonymous_variant(LOW|SILENT|gtA/gtC|p.Val169Val/c.507A>C|796|LRRC8E|protein_coding|CODING|NM_025061.5|3|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9939,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,LRRC8E,MISSENSE,NM_001268284.2:p.Glu181Gly/c.542A>G,gAa/gGa,MODERATE,,0.232827,0.2292,rs2042919,0.4(T),0.225(B),0.69(N),-0.9177(T),,chr19,7963949,7963949,A,G,het,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu181Gly/c.542A>G|796|LRRC8E|protein_coding|CODING|NM_001268284.2|4|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu52Gly/c.155A>G|667|LRRC8E|protein_coding|CODING|NM_001268285.2|2|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu181Gly/c.542A>G|796|LRRC8E|protein_coding|CODING|NM_025061.5|3|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1401,0.183,0.2425,0.24,0.24,0.24,,0.046258(N),1.000(P),1.64(T),0.0000(T),0.038,-1.206104,5.19,4.14,-0.802000,0.785000,1.315000,0.002000,0.009000,0.001000,5.5225
missense_variant,LRRC8E,MISSENSE,NM_001268284.2:p.Met190Thr/c.569T>C,aTg/aCg,MODERATE,,0.28095,0.2629,rs2115108,0.6(T),0.0(B),0(N),-0.9123(T),,chr19,7963976,7963976,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met190Thr/c.569T>C|796|LRRC8E|protein_coding|CODING|NM_001268284.2|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met61Thr/c.182T>C|667|LRRC8E|protein_coding|CODING|NM_001268285.2|2|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met190Thr/c.569T>C|796|LRRC8E|protein_coding|CODING|NM_025061.5|3|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.2065,0.2046,0.325,0.32,0.35,0.31,,0.709546(N),1.000(P),1.83(T),0.0000(T),0.01,-2.370692,5.19,-0.706,-0.735000,-0.101000,0.295000,0.006000,0.000000,0.000000,1.9981
synonymous_variant,LRRC8E,SILENT,NM_001268284.2:p.Thr403Thr/c.1209G>C,acG/acC,LOW,,0.091853,0.001,rs45603833,,,,,,chr19,7964616,7964616,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr403Thr/c.1209G>C|796|LRRC8E|protein_coding|CODING|NM_001268284.2|4|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr274Thr/c.822G>C|667|LRRC8E|protein_coding|CODING|NM_001268285.2|2|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr403Thr/c.1209G>C|796|LRRC8E|protein_coding|CODING|NM_025061.5|3|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0481,0.2046,0.2485,0.17,0.05,0.24,,,,,,,,,,,,,,,,
synonymous_variant,LRRC8E,SILENT,NM_001268284.2:p.Glu440Glu/c.1320G>A,gaG/gaA,LOW,,0.16274,0.1339,rs3745382,,,,,,chr19,7964727,7964727,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu440Glu/c.1320G>A|796|LRRC8E|protein_coding|CODING|NM_001268284.2|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu311Glu/c.933G>A|667|LRRC8E|protein_coding|CODING|NM_001268285.2|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu440Glu/c.1320G>A|796|LRRC8E|protein_coding|CODING|NM_025061.5|3|1)","H1ESC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.135,0.1671,0.2445,0.22,0.17,0.25,,,,,,,,,,,,,,,,
synonymous_variant,LRRC8E,SILENT,NM_001268284.2:p.Tyr644Tyr/c.1932C>T,taC/taT,LOW,COSM440654(1),0.0748802,0.125,rs3745383,,,,,,chr19,7965339,7965339,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr644Tyr/c.1932C>T|796|LRRC8E|protein_coding|CODING|NM_001268284.2|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr515Tyr/c.1545C>T|667|LRRC8E|protein_coding|CODING|NM_001268285.2|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr644Tyr/c.1932C>T|796|LRRC8E|protein_coding|CODING|NM_025061.5|3|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NHEK:H3K4me1,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0562,0.0735,0.1342,0.10,0.03,0.13,,,,,,,,,,,,,,,,
missense_variant,SNAPC2,MISSENSE,NM_003083.3:p.Leu118Val/c.352C>G,Ctg/Gtg,MODERATE,,0.41274,0.5169,rs475002,0.06(T),0.912(D),2.19(M),-0.9282(T),,chr19,7986638,7986638,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu118Val/c.352C>G|334|SNAPC2|protein_coding|CODING|NM_003083.3|3|1),non_coding_exon_variant(MODIFIER|||n.307C>G||SNAPC2||CODING|NR_030717.1|3|1)","H1ESC:H3K36me3,K562:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,K562:USF1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3",,,,0.4366,0.4092,0.5467,0.47,0.28,0.56,,0.011020(N),1.000(P),0.79(T),0.0000(T),0.145,2.916868,4.71,-0.458,0.556000,0.200000,-0.315000,0.832000,0.817000,0.001000,1.3297
missense_variant,CCL25,MISSENSE,NM_005624.3:p.Thr104Met/c.311C>T,aCg/aTg,MODERATE,,0.095647,0.1032,rs1129763,0.17(T),"0.002,0.002(B,B)",0(N),-0.9543(T),,chr19,8121369,8121369,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr104Met/c.311C>T|149|CCL25|protein_coding|CODING|NM_001201359.1|4|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr104Met/c.311C>T|150|CCL25|protein_coding|CODING|NM_005624.3|4|1)",,,,,0.1472,0.098,0.1491,0.10,0.03,0.14,,0.000000(N),1.000(P),"3.81,3.81(T,T)",0.0000(T),0.02,-0.269094,2.82,-5.63,-0.254000,-2.300000,-0.496000,0.011000,0.000000,0.000000,0.3757
synonymous_variant,CCL25,SILENT,NM_005624.3:p.Ser126Ser/c.378G>A,tcG/tcA,LOW,COSM3757418(1),0.646565,0.7679,rs2303164,1(T),0.007(B),,-0.9409(T),,chr19,8122737,8122737,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser126Ser/c.378G>A|150|CCL25|protein_coding|CODING|NM_005624.3|5|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser125Ser/c.375G>A|149|CCL25|protein_coding|CODING|NM_001201359.1|5|1)","H1ESC:USF1,K562:USF1,K562:DNase1",,,,0.7986,0.451,0.6392,0.62,0.57,0.65,,,1.000(P),0.78(T),0.0000(T),.,-0.408462,1.17,0.0884,0.305000,0.070000,0.375000,0.030000,0.003000,0.001000,3.3495
synonymous_variant,CCL25,SILENT,NM_005624.3:p.Ser136Ser/c.408T>C,agT/agC,LOW,,0.934704,0.8938,rs2303165,,,,,,chr19,8122767,8122767,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser136Ser/c.408T>C|150|CCL25|protein_coding|CODING|NM_005624.3|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser135Ser/c.405T>C|149|CCL25|protein_coding|CODING|NM_001201359.1|5|1)","H1ESC:USF1,K562:USF1,K562:DNase1",,,,0.9622,0.8516,0.9225,0.95,0.98,0.93,,,,,,,,,,,,,,,,
missense_variant,FBN3,MISSENSE,NM_032447.3:p.Glu2610Asp/c.7830G>T,gaG/gaT,MODERATE,COSM1397709(2),0.579473,0.3552,rs386608746,1(T),0.0(B),-1.87(N),-0.9946(T),,chr19,8138054,8138054,C,A,hom,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu2610Asp/c.7830G>T|2809|FBN3|protein_coding|CODING|NM_032447.3|61|1),H1ESC:H3K36me3,,,,0.3589,0.6441,0.5586,0.64,0.85,0.54,,0.000000(N),1.000(P),1.97(T),0.0000(T),0.112,-1.328437,4.24,-3.82,-1.327000,-2.290000,-1.163000,0.460000,0.040000,0.000000,10.1006
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Pro2473Pro/c.7419G>A,ccG/ccA,LOW,,0.563299,0.3581,rs2303168,,,,,,chr19,8145921,8145921,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2473Pro/c.7419G>A|2809|FBN3|protein_coding|CODING|NM_032447.3|58|1),H1ESC:H3K36me3,,,,0.3507,0.6354,0.5636,0.63,0.80,0.54,,,,,,,,,,,,,,,,
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Asp2201Asp/c.6603T>C,gaT/gaC,LOW,,0.669129,0.4633,rs12460643,,,,,,chr19,8152725,8152725,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2201Asp/c.6603T>C|2809|FBN3|protein_coding|CODING|NM_032447.3|52|1),H1ESC:H3K36me3,,,,0.4652,0.7104,0.7028,0.79,0.90,0.73,,,,,,,,,,,,,,,,
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Glu2059Glu/c.6177G>A,gaG/gaA,LOW,COSM3757420(2),0.245208,0.0724,rs35002391,0.39(T),,,-0.9613(T),,chr19,8154990,8154990,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2059Glu/c.6177G>A|2809|FBN3|protein_coding|CODING|NM_032447.3|48|1),H1ESC:H3K36me3,,,,0.18,0.219,0.337,0.37,0.36,0.37,,,0.000(P),,0.0000(T),.,-1.128823,3.83,0.32,-1.598000,-0.046000,-0.251000,0.071000,0.998000,0.033000,11.4047
missense_variant,FBN3,MISSENSE,NM_032447.3:p.Pro1958His/c.5873C>A,cCt/cAt,MODERATE,COSM3757421(1),0.485823,0.7331,rs7245429,0.22(T),,1.73(L),-0.8909(T),,chr19,8159362,8159362,G,T,het,missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro1958His/c.5873C>A|2809|FBN3|protein_coding|CODING|NM_032447.3|46|1),H1ESC:H3K36me3,,,,0.638,0.5403,0.4006,0.34,0.23,0.39,,,0.000(P),,0.0000(T),.,3.525861,4.69,1.38,-0.355000,0.085000,5.137000,0.913000,0.566000,1.000000,9.8691
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Pro1942Pro/c.5826C>A,ccC/ccA,LOW,COSM1613099(1),0.686102,0.9018,rs7245552,0.15(T),,,-1.0611(T),,chr19,8159409,8159409,G,T,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1942Pro/c.5826C>A|2809|FBN3|protein_coding|CODING|NM_032447.3|46|1),H1ESC:H3K36me3,,,,0.8067,0.7536,0.6471,0.56,0.45,0.62,,0.000000(U),0.000(P),,0.0000(T),.,0.230947,4.82,1.01,-1.477000,-0.083000,-2.665000,0.533000,0.971000,0.000000,0.8827
missense_variant,FBN3,MISSENSE,NM_032447.3:p.Asn1869Lys/c.5607C>G,aaC/aaG,MODERATE,,0.132188,0.245,rs12150963,0.31(T),0.138(B),0.245(N),-1.0908(T),,chr19,8160897,8160897,G,C,het,missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn1869Lys/c.5607C>G|2809|FBN3|protein_coding|CODING|NM_032447.3|44|1),"H1ESC:H3K36me3,CD4:H3K79me3,H1ESC:H3K9me3",,,,0.1002,0.2594,0.1153,0.10,0.04,0.13,,0.000007(U),0.000(P),-2.88(D),0.0002(T),0.053,1.885399,3.71,3.71,0.655000,1.748000,6.946000,0.258000,0.980000,1.000000,15.8328
missense_variant,FBN3,MISSENSE,NM_032447.3:p.Gly1614Ser/c.4840G>A,Ggc/Agc,MODERATE,COSM3757424(1),0.13778,0.0476,rs33967815,0.36(T),0.999(D),0.955(L),-1.2319(T),,chr19,8168545,8168545,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1614Ser/c.4840G>A|2809|FBN3|protein_coding|CODING|NM_032447.3|38|1),H1ESC:H3K36me3,,,,0.1503,0.1888,0.2952,0.25,0.09,0.34,,0.000000(U),0.000(P),-2.88(D),0.0000(T),0.147,3.610916,3.61,3.61,0.491000,1.724000,5.475000,0.440000,0.943000,1.000000,15.6061
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Cys1349Cys/c.4047C>T,tgC/tgT,LOW,COSM1397730(1),0.256989,0.4226,rs35306870,,,,,,chr19,8176569,8176569,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1349Cys/c.4047C>T|2809|FBN3|protein_coding|CODING|NM_032447.3|31|1),"H1ESC:H3K36me3,GM12878:H3K36me3",,,,0.184,0.3876,0.2346,0.22,0.17,0.24,,,,,,,,,,,,,,,,
missense_variant,FBN3,MISSENSE,NM_032447.3:p.Val1326Ile/c.3976G>A,Gtc/Atc,MODERATE,COSM1397731(2),0.282748,0.4206,rs12975322,0.19(T),0.102(B),-0.325(N),-0.9772(T),,chr19,8176640,8176640,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1326Ile/c.3976G>A|2809|FBN3|protein_coding|CODING|NM_032447.3|31|1),"H1ESC:H3K36me3,GM12878:H3K36me3",,,,0.184,0.3905,0.2326,0.25,0.26,0.24,,0.105085(U),1.000(P),-2.22(D),0.0000(T),0.019,0.759456,3.95,1.72,0.313000,0.131000,-0.922000,0.324000,0.000000,0.000000,6.808
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Pro1301Pro/c.3903G>A,ccG/ccA,LOW,,0.689297,0.7847,rs4804264,,,,,,chr19,8176919,8176919,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1301Pro/c.3903G>A|2809|FBN3|protein_coding|CODING|NM_032447.3|30|1),H1ESC:H3K36me3,,,,0.773,0.719,0.5298,0.56,0.64,0.52,,,,,,,,,,,,,,,,
missense_variant,FBN3,MISSENSE,NM_032447.3:p.Asp868Asn/c.2602G>A,Gat/Aat,MODERATE,COSM3766466(1),0.299521,0.379,rs35025963,0.26(T),0.017(B),0.57(N),-1.0710(T),,chr19,8191184,8191184,C,T,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp868Asn/c.2602G>A|2809|FBN3|protein_coding|CODING|NM_032447.3|20|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.4969,0.3228,0.2823,0.23,0.13,0.28,,0.000389(U),0.994(P),-2.74(D),0.0000(T),0.003,0.976745,3.05,0.768,0.555000,0.130000,2.090000,0.010000,0.028000,1.000000,5.0229
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Cys835Cys/c.2505C>T,tgC/tgT,LOW,COSM440673(3),0.26278,0.2758,rs3813778,,,,,,chr19,8191401,8191401,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys835Cys/c.2505C>T|2809|FBN3|protein_coding|CODING|NM_032447.3|19|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2444,0.2637,0.4404,0.36,0.17,0.45,,,,,,,,,,,,,,,,
missense_variant,FBN3,MISSENSE,NM_032447.3:p.Asp662Asn/c.1984G>A,Gac/Aac,MODERATE,,0.988019,0.9772,rs386595566,1(T),0.0(B),-1.455(N),-0.9421(T),,chr19,8196444,8196444,C,T,hom,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp662Asn/c.1984G>A|2809|FBN3|protein_coding|CODING|NM_032447.3|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.9816,0.9986,0.997,1.00,0.99,1.00,,0.000001(N),1.000(P),-2.95(D),0.0000(T),0.016,-1.852597,3.02,0.834,-1.305000,-0.704000,1.127000,0.023000,0.693000,0.876000,7.2394
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Ser640Ser/c.1920C>G,tcC/tcG,LOW,COSM3757426(1),0.18151,0.0486,rs12974280,,,,,,chr19,8196508,8196508,G,C,het,synonymous_variant(LOW|SILENT|tcC/tcG|p.Ser640Ser/c.1920C>G|2809|FBN3|protein_coding|CODING|NM_032447.3|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.2055,0.2233,0.3618,0.31,0.15,0.39,,,,,,,,,,,,,,,,
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Arg595Arg/c.1785C>T,cgC/cgT,LOW,,0.146565,0.001,rs61744943,,,,,,chr19,8196643,8196643,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg595Arg/c.1785C>T|2809|FBN3|protein_coding|CODING|NM_032447.3|14|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.0603,0.1326,0.0944,0.18,0.32,0.11,,,,,,,,,,,,,,,,
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Asn533Asn/c.1599C>T,aaC/aaT,LOW,,0.047524,0.001,rs35202360,,,,,,chr19,8197983,8197983,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn533Asn/c.1599C>T|2809|FBN3|protein_coding|CODING|NM_032447.3|13|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0521,0.1009,0.0765,0.07,0.04,0.09,,,,,,,,,,,,,,,,
synonymous_variant,FBN3,SILENT,NM_032447.3:p.Asp34Asp/c.102C>T,gaC/gaT,LOW,COSM3757428(4),0.211262,0.2163,rs11878432,,,,,,chr19,8212263,8212263,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp34Asp/c.102C>T|2809|FBN3|protein_coding|CODING|NM_032447.3|1|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1984,0.2075,0.3499,0.28,0.17,0.34,,,,,,,,,,,,,,,,
synonymous_variant,CERS4,SILENT,NM_024552.2:p.Ser242Ser/c.726T>C,tcT/tcC,LOW,,0.4375,0.4504,rs36247,,,,,,chr19,8321946,8321946,T,C,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser242Ser/c.726T>C|394|CERS4|protein_coding|CODING|NM_024552.2|9|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.589,0.3862,0.328,0.36,0.43,0.32,,,,,,,,,,,,,,,,
missense_variant,CERS4,MISSENSE,NM_024552.2:p.Ala366Thr/c.1096G>A,Gca/Aca,MODERATE,COSM1741719(2),0.752995,0.7986,rs36259,0.66(T),0.01(B),1.405(L),-0.9859(T),,chr19,8326904,8326904,G,A,hom,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala366Thr/c.1096G>A|394|CERS4|protein_coding|CODING|NM_024552.2|12|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7771,0.7752,0.7763,0.74,0.69,0.76,,0.000000(N),1.000(P),3.4(T),0.0000(T),0.054,0.750364,4.74,0.913,0.491000,0.357000,0.869000,0.066000,0.002000,0.149000,2.3281
synonymous_variant,NDUFA7,SILENT,NM_005001.3:p.Pro100Pro/c.300C>T,ccC/ccT,LOW,,0.138179,0.2083,rs386599179,,,,,,chr19,8376431,8376431,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro100Pro/c.300C>T|113|NDUFA7|protein_coding|CODING|NM_005001.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0716,0.2666,0.1859,0.15,0.06,0.19,,,,,,,,,,,,,,,,
synonymous_variant,KANK3,SILENT,NM_198471.2:p.Ser361Ser/c.1083T>C,agT/agC,LOW,COSM3749577(3),0.602436,0.4147,rs710949,,,,,,chr19,8399628,8399628,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser361Ser/c.1083T>C|821|KANK3|protein_coding|CODING|NM_198471.2|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.5992,0.6153,0.5984,0.72,0.78,0.70,,,,,,,,,,,,,,,,
missense_variant,KANK3,MISSENSE,NM_198471.2:p.Arg359His/c.1076G>A,cGc/cAc,MODERATE,COSM3757431(1),0.192093,0.2113,rs890853,0.06(T),0.004(B),0.895(L),-0.9870(T),,chr19,8399635,8399635,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg359His/c.1076G>A|821|KANK3|protein_coding|CODING|NM_198471.2|3|1),"H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.1053,0.3847,0.2545,,,,,,1.000(P),0.59(T),0.0000(T),0.149,2.134512,4.52,0.959,0.297000,0.468000,0.173000,0.060000,0.688000,0.014000,6.9118
missense_variant,ANGPTL4,MISSENSE,NM_139314.2:p.Thr266Met/c.797C>T,aCg/aTg,MODERATE,COSM3757433(1),0.239617,0.0595,rs1044250,0.08(T),"0.056,0.056(B,B)",3.305(M),-0.9750(T),,chr19,8436164,8436164,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr228Met/c.683C>T|368|ANGPTL4|protein_coding|CODING|NM_001039667.2|5|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr266Met/c.797C>T|406|ANGPTL4|protein_coding|CODING|NM_139314.2|6|1),intron_variant(MODIFIER|||n.625-2913C>T||ANGPTL4||CODING|NR_104213.1|2|1)","K562:PolII,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:E2F6,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2454,0.3285,0.331,0.29,0.25,0.31,,0.122905(N),1.000(P),"1.39,1.39,1.39(T,T,T)",0.0000(T),0.097,0.532489,5.09,-1.27,-0.263000,-0.515000,0.761000,0.239000,0.000000,0.001000,6.5885
missense_variant,MARCH2,MISSENSE,NM_001005415.1:p.Arg219Pro/c.656G>C,cGg/cCg,MODERATE,COSM3757435(2),0.0934505,0.002,rs34099346,0.89(T),"0.001,0.0(B,B)",-1.09(N),-0.9712(T),,chr19,8503345,8503345,G,C,hom,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg219Pro/c.656G>C|246|MARCH2|protein_coding|CODING|NM_001005415.1|5|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg149Pro/c.446G>C|176|MARCH2|protein_coding|CODING|NM_001005416.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg219Pro/c.656G>C|246|MARCH2|protein_coding|CODING|NM_016496.4|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1738,0.1671,0.167,0.10,0.03,0.14,,0.000007(N),0.573(P),"2.54,2.54,2.54(T,T,T)",0.0000(T),0.115,2.279265,5.33,-2.25,-0.892000,0.009000,1.608000,0.021000,0.809000,0.999000,2.2191
synonymous_variant,HNRNPM,SILENT,NM_005968.4:p.Pro594Pro/c.1782T>C,ccT/ccC,LOW,COSM3722080(10),0.867612,0.9812,rs2230647,,,,,,chr19,8551094,8551094,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro459Pro/c.1377T>C|595|HNRNPM|protein_coding|CODING|NM_001297418.1|12|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro594Pro/c.1782T>C|730|HNRNPM|protein_coding|CODING|NM_005968.4|14|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro555Pro/c.1665T>C|691|HNRNPM|protein_coding|CODING|NM_031203.3|15|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9806,0.9424,0.9761,0.85,0.62,0.97,,,,,,,,,,,,,,,,
synonymous_variant,HNRNPM,SILENT,NM_005968.4:p.Gly695Gly/c.2085C>T,ggC/ggT,LOW,,0.875998,0.9802,rs6992,,,,,,chr19,8553630,8553630,C,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly560Gly/c.1680C>T|595|HNRNPM|protein_coding|CODING|NM_001297418.1|14|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly695Gly/c.2085C>T|730|HNRNPM|protein_coding|CODING|NM_005968.4|16|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly656Gly/c.1968C>T|691|HNRNPM|protein_coding|CODING|NM_031203.3|17|1),downstream_gene_variant(MODIFIER||1310||670|PRAM1|protein_coding|CODING|NM_032152.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9714,0.9395,0.9682,0.87,0.67,0.97,,,,,,,,,,,,,,,,
synonymous_variant,PRAM1,SILENT,NM_032152.4:p.Ala412Ala/c.1236G>C,gcG/gcC,LOW,COSM3757438(4),0.998403,1,rs2910435,,,,,,chr19,8563456,8563456,C,G,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala412Ala/c.1236G>C|670|PRAM1|protein_coding|CODING|NM_032152.4|2|1),HepG2:H3K27me3,,,,1,0.9971,0.995,0.99,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,PRAM1,MISSENSE,NM_032152.4:p.Lys57Gln/c.169A>C,Aag/Cag,MODERATE,,0.231829,0.1736,rs4804305,0.12(T),"0.913,0.964(D,D)",1.735(L),-0.9838(T),,chr19,8564523,8564523,T,G,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys57Gln/c.169A>C|670|PRAM1|protein_coding|CODING|NM_032152.4|2|1),HepG2:H3K27me3,,,,0.3384,0.2896,0.336,0.22,0.09,0.29,,,1.000(P),"2.2,2.2(T,T)",0.0000(T),0.019,2.383623,4.28,-1.1,-0.468000,-0.059000,0.883000,0.001000,0.002000,0.466000,6.29
start_lost,PRAM1,MISSENSE,NM_032152.4:p.Met1?/c.1A>G,Atg/Gtg,HIGH,COSM3757439(1),0.311901,0.1815,rs968502,1(T),"0.0,0.0(B,B)",,-0.9531(T),PRAM1:1.00(1);,chr19,8567475,8567475,T,C,het,start_lost(HIGH|MISSENSE|Atg/Gtg|p.Met1?/c.1A>G|670|PRAM1|protein_coding|CODING|NM_032152.4|1|1),HepG2:H3K27me3,,,,0.1646,0.2032,0.1998,0.29,0.52,0.17,,,1.000(P),"2.58,2.58(T,T)",0.0000(T),0.025,-2.997294,3.35,1.06,-0.355000,0.070000,-0.509000,0.104000,0.000000,0.000000,1.9836
missense_variant,ZNF414,MISSENSE,NM_001146175.1:p.Ala357Pro/c.1069G>C,Gcc/Ccc,MODERATE,,0.211062,0.1776,rs3111564,0.32(T),0.0(B),-0.345(N),-0.9456(T),,chr19,8575765,8575765,C,G,het,"missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala357Pro/c.1069G>C|390|ZNF414|protein_coding|CODING|NM_001146175.1|7|1),downstream_gene_variant(MODIFIER||451||312|ZNF414|protein_coding|CODING|NM_032370.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1595,0.1686,0.1988,,,,,0.526594(N),1.000(P),1.92(T),0.0000(T),0.063,1.387818,5.15,3.03,-1.145000,0.206000,-0.084000,0.041000,0.261000,0.002000,5.7112
synonymous_variant,ZNF414,SILENT,NM_001146175.1:p.Pro235Pro/c.705G>A,ccG/ccA,LOW,COSM3757441(2),0.201677,0.1746,rs7175,,,,,,chr19,8576670,8576670,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro235Pro/c.705G>A|390|ZNF414|protein_coding|CODING|NM_001146175.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro235Pro/c.705G>A|312|ZNF414|protein_coding|CODING|NM_032370.2|5|1)","NHEK:CTCF,H1ESC:H3K36me3,NHEK:H3K4me3,K562:CTCF,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1,H1ESC:CTCF",,,,0.137,0.1686,0.1988,0.18,0.23,0.16,,,,,,,,,,,,,,,,
missense_variant,ZNF414,MISSENSE,NM_001146175.1:p.Pro77Ser/c.229C>T,Cct/Tct,MODERATE,COSM3757442(1),0.205272,0.1746,rs1064010,0.43(T),"0.001,0.001(B,B)",0.55(N),-0.9111(T),,chr19,8578000,8578000,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro77Ser/c.229C>T|390|ZNF414|protein_coding|CODING|NM_001146175.1|2|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro77Ser/c.229C>T|312|ZNF414|protein_coding|CODING|NM_032370.2|2|1)","K562:H3K4me3,GM12878:H3K4me3,CD4:H4K91ac,H1ESC:H3K4me2,HMEC:H3K4me2,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.137,0.1686,0.1978,0.17,0.22,0.15,,0.336251(N),1.000(P),"3.29,3.29(T,T)",0.0000(T),0.116,1.040485,4.45,-0.996,0.655000,-0.294000,0.029000,0.934000,0.125000,0.001000,1.1561
synonymous_variant,ZNF414,SILENT,NM_001146175.1:p.Pro37Pro/c.111T>C,ccT/ccC,LOW,,0.20647,0.1746,rs1064009,,,,,,chr19,8578118,8578118,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro37Pro/c.111T>C|390|ZNF414|protein_coding|CODING|NM_001146175.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro37Pro/c.111T>C|312|ZNF414|protein_coding|CODING|NM_032370.2|2|1)","K562:H3K4me3,HepG2:H3K4me2,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,CD4:H4K91ac,H1ESC:H3K4me2,HMEC:H3K4me2,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.137,0.1686,0.1978,0.19,0.25,0.16,,,,,,,,,,,,,,,,
synonymous_variant,ZNF414,SILENT,NM_001146175.1:p.Pro10Pro/c.30A>G,ccA/ccG,LOW,,0.20647,0.1746,rs1141019,,,,,,chr19,8578199,8578199,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro10Pro/c.30A>G|390|ZNF414|protein_coding|CODING|NM_001146175.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro10Pro/c.30A>G|312|ZNF414|protein_coding|CODING|NM_032370.2|2|1)","K562:H3K4me3,HepG2:H3K4me2,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,H1ESC:H3K4me2,HepG2:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.137,0.1686,0.1978,0.21,0.28,0.18,,,,,,,,,,,,,,,,
missense_variant,MYO1F,MISSENSE,NM_012335.3:p.Arg432Cys/c.1294C>T,Cgc/Tgc,MODERATE,,0.000199681,0,rs201654775,0(D),0.69(P),2.56(M),0.4343(D),,chr19,8610596,8610596,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg432Cys/c.1294C>T|1098|MYO1F|protein_coding|CODING|NM_012335.3|13|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0,0,0,0.00,0.00,0.00,,0.000817(D),0.996(D),-2.28(D),0.6754(D),0.506,4.019545,4.71,3.63,0.448000,2.173000,4.736000,0.917000,1.000000,1.000000,9.4924
missense_variant,ADAMTS10,MISSENSE,NM_030957.3:p.His1101Gln/c.3303T>G,caT/caG,MODERATE,COSM4132814(1),0.9998,1,rs7252299,1(T),"0.0,0.004(B,B)",-0.895(N),-0.9584(T),,chr19,8645786,8645786,A,C,hom,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His588Gln/c.1764T>G|590|ADAMTS10|protein_coding|CODING|NM_001282352.1|13|1),missense_variant(MODERATE|MISSENSE|caT/caG|p.His1101Gln/c.3303T>G|1103|ADAMTS10|protein_coding|CODING|NM_030957.3|26|1)","K562:ZBTB7A,NHEK:CTCF,HepG2:ELF1,CD4:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,GM12878:ELF1,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:Cmyc,HMEC:CTCF,NH-A:CTCF,K562:ELF1,K562:Rad21,H1ESC:H3K9me3,CD4:CTCF,H1ESC:Tcf12,HepG2:CTCF,GM12878:Rad21,HepG2:DNase1,GM12878:DNase1,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,1,1,0.999,1.00,1.00,1.00,,0.000001(N),1.000(P),1.1(T),0.0000(T),0.053,0.495737,5.47,-2.4,-0.232000,-0.925000,0.203000,0.964000,0.918000,0.988000,0.4533
missense_variant,ADAMTS10,MISSENSE,NM_030957.3:p.Thr134Ser/c.401C>G,aCc/aGc,MODERATE,COSM3720716(3),0.89397,0.9702,rs7255721,1(T),0.002(B),-1.455(N),-0.9523(T),,chr19,8669931,8669931,G,C,hom,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr134Ser/c.401C>G|1103|ADAMTS10|protein_coding|CODING|NM_030957.3|4|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.9284,0.8516,0.7048,0.78,0.94,0.70,,0.000276(N),1.000(P),0.36(T),0.0000(T),0.099,-0.017841,5.24,5.24,-0.322000,1.228000,0.951000,0.965000,1.000000,1.000000,10.455
missense_variant,ACTL9,MISSENSE,NM_178525.4:p.His227Asn/c.679C>A,Cac/Aac,MODERATE,COSM3749578(8),0.60004,0.6825,rs4804079,0(D),0.871(P),0.965(L),-1.0921(T),,chr19,8808373,8808373,G,T,het,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His227Asn/c.679C>A|416|ACTL9|protein_coding|CODING|NM_178525.4|1|1),"H1ESC:H3K27me3,K562:H3K27me3",,,,0.6708,0.5159,0.5427,0.53,0.55,0.52,,0.118775(N),0.395(P),3.15(T),0.0000(T),0.053,1.769430,4.55,4.55,0.462000,2.531000,1.603000,0.481000,0.982000,0.904000,6.6553
missense_variant,ACTL9,MISSENSE,NM_178525.4:p.Val51Ala/c.152T>C,gTg/gCg,MODERATE,COSM4132823(1),0.791733,0.874,rs10410943,1(T),0.0(B),-1.645(N),-0.9569(T),,chr19,8808900,8808900,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val51Ala/c.152T>C|416|ACTL9|protein_coding|CODING|NM_178525.4|1|1),"H1ESC:H3K27me3,K562:E2F6,K562:H3K27me3",,,,0.8272,0.7219,0.7127,0.72,0.79,0.68,,0.355344(N),1.000(P),-3.11(D),0.0000(T),0.068,-0.746413,3.12,3.12,-0.355000,0.907000,4.998000,0.026000,0.005000,1.000000,9.9865
missense_variant,ACTL9,MISSENSE,NM_178525.4:p.Phe37Ser/c.110T>C,tTc/tCc,MODERATE,COSM4132824(1),0.791733,0.874,rs2340550,0.03(D),0.0(B),0(N),-0.8702(T),,chr19,8808942,8808942,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe37Ser/c.110T>C|416|ACTL9|protein_coding|CODING|NM_178525.4|1|1),"H1ESC:H3K27me3,K562:H3K27me3",,,,0.8272,0.7233,0.7117,0.72,0.79,0.68,,0.137614(N),1.000(P),-3.4(D),0.0000(T),0.018,-0.810376,3.12,2.06,-0.355000,0.347000,0.444000,0.000000,0.000000,0.002000,6.0629
synonymous_variant,OR2Z1,SILENT,NM_001004699.2:p.His56His/c.168T>C,caT/caC,LOW,,0.639377,0.4563,rs28324,,,,,,chr19,8841558,8841558,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His56His/c.168T>C|314|OR2Z1|protein_coding|CODING|NM_001004699.2|1|1),,,,,0.4294,0.6182,0.6133,0.73,0.91,0.63,,,,,,,,,,,,,,,,
synonymous_variant,MBD3L1,SILENT,NM_145208.2:p.Val149Val/c.447T>C,gtT/gtC,LOW,,0.911741,0.9107,rs2969292,,,,,,chr19,8953801,8953801,T,C,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val149Val/c.447T>C|194|MBD3L1|protein_coding|CODING|NM_145208.2|1|1),,,,,0.9387,0.8602,0.9254,0.92,0.91,0.93,,,,,,,,,,,,,,,,
missense_variant,MBD3L1,MISSENSE,NM_145208.2:p.Arg190Cys/c.568C>T,Cgt/Tgt,MODERATE,,0.889776,0.9048,rs2972588,0.2(T),0.0(B),-0.755(N),-1.0359(T),,chr19,8953922,8953922,C,T,hom,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg190Cys/c.568C>T|194|MBD3L1|protein_coding|CODING|NM_145208.2|1|1),,,,,0.9182,0.853,0.9254,0.90,0.85,0.93,,,1.000(P),0.87(T),0.0000(T),0.066,0.625772,3.83,-7.66,-1.177000,-3.406000,-1.985000,0.000000,0.000000,0.000000,5.3592
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Val14466Leu/c.43396G>C,Gtc/Ctc,MODERATE,,0.911741,0.9107,rs1035442,,,-2.125(N),-1.0089(T),,chr19,8961981,8961981,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val14466Leu/c.43396G>C|14507|MUC16|protein_coding|CODING|NM_024690.2|83|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,0.9376,0.8602,0.9235,0.93,0.92,0.93,,,,,0.0000(T),.,-2.553362,4.47,-0.191,-1.244000,-0.213000,0.187000,0.022000,0.001000,0.191000,0.9965
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro13914Leu/c.41741C>T,cCc/cTc,MODERATE,,0.0503195,0.001,rs61742668,0.61(T),"0.0,0.995(B,D)",1.875(L),-1.0385(T),,chr19,8993018,8993018,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro13914Leu/c.41741C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|67|1),,,,,0.0675,0.0778,0.1173,0.08,0.02,0.11,,,,"1.63,1.63(T,T)",0.0027(T),0.039,1.829017,2.64,-1.49,-0.750000,-0.361000,0.814000,0.062000,0.000000,0.001000,2.7953
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Thr13579Thr/c.40737T>A,acT/acA,LOW,,,,rs77891947,,,,-1.0025(T),,chr19,8999438,8999438,A,T,het,synonymous_variant(LOW|SILENT|acT/acA|p.Thr13579Thr/c.40737T>A|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.0467(T),.,-1.466399,2.95,-4.32,-2.326000,-0.788000,-0.080000,0.004000,0.000000,0.012000,2.93
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ile13578Ile/c.40734C>T,atC/atT,LOW,,,,rs80293661,,,,-0.9446(T),,chr19,8999441,8999441,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile13578Ile/c.40734C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.1007(T),.,-1.394273,2.95,1.9,0.555000,0.786000,1.607000,0.016000,0.014000,0.993000,5.174
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ile13578Val/c.40732A>G,Atc/Gtc,MODERATE,,,,,0.48(T),"0.008,0.453(B,P)",0.67(N),-0.8625(T),,chr19,8999443,8999443,T,C,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile13578Val/c.40732A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"1.32,1.32(T,T)",0.0687(T),0.091,-1.225501,2.95,-5.02,0.454000,-0.945000,-2.491000,0.020000,0.001000,0.000000,8.2204
missense_variant,MUC16,MISSENSE,NM_024690.2:p.His13576Asn/c.40726C>A,Cac/Aac,MODERATE,,,,rs76798407,0.37(T),"0.192,0.758(B,P)",0.955(L),-0.9612(T),,chr19,8999449,8999449,G,T,het,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His13576Asn/c.40726C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"1.3,1.3(T,T)",0.0922(T),0.135,-0.295337,2.95,1.87,0.555000,0.784000,-0.331000,0.150000,0.319000,0.000000,7.1711
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Leu13574Leu/c.40722G>A,ctG/ctA,LOW,COSM3757451(2),0.598442,0.6062,rs11085765,,,,,,chr19,8999453,8999453,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu13574Leu/c.40722G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,0.6738,0.7219,0.7177,0.58,0.43,0.66,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Gln13566Arg/c.40697A>G,cAg/cGg,MODERATE,COSM3933249(3),,,rs73493659,0.65(T),"0.002,0.659(B,P)",1.32(L),-0.8595(T),,chr19,8999478,8999478,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln13566Arg/c.40697A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"1.57,1.57(T,T)",0.1394(T),0.071,-1.045174,3.48,-4.27,0.454000,-1.289000,-2.569000,0.063000,0.018000,0.000000,11.6309
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro13555Leu/c.40664C>T,cCt/cTt,MODERATE,,,,rs79907258,,"0.007,0.995(B,D)",1.975(M),-0.8197(T),,chr19,8999511,8999511,G,A,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro13555Leu/c.40664C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"0.9,0.9(T,T)",0.1691(T),0.144,1.400472,3.48,-1.75,-0.986000,0.012000,0.115000,0.001000,0.002000,0.000000,3.7818
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Tyr13553Phe/c.40658A>T,tAc/tTc,MODERATE,,,,,,,1.04(L),-0.9970(T),,chr19,8999517,8999517,T,A,het,missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr13553Phe/c.40658A>T|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.0702(T),.,1.061096,3.48,1.18,-0.542000,0.051000,0.325000,0.001000,0.000000,0.003000,6.0986
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Tyr13553His/c.40657T>C,Tac/Cac,MODERATE,,,,rs77650227,0.85(T),"0.007,0.523(B,P)",-1.04(N),-0.9618(T),,chr19,8999518,8999518,A,G,het,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr13553His/c.40657T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"1.15,1.15(T,T)",0.0413(T),0.165,-1.054945,3.48,-6.96,-2.398000,-1.832000,-1.110000,0.002000,0.000000,0.000000,13.8516
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Asp13548Asp/c.40644T>C,gaT/gaC,LOW,,,,,,,,-0.8861(T),,chr19,8999531,8999531,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp13548Asp/c.40644T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.1094(T),.,-0.016151,3.48,-4.51,-0.451000,-0.868000,-1.254000,0.044000,0.000000,0.000000,10.7767
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Lys13546Glu/c.40636A>G,Aaa/Gaa,MODERATE,,,,rs76810971,0.57(T),"0.001,0.97(B,D)",2.35(M),-0.8340(T),,chr19,8999539,8999539,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys13546Glu/c.40636A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|56|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"1.45,1.45(T,T)",0.1323(T),0.094,0.876997,3.48,-6.96,-2.398000,-1.577000,-2.049000,0.000000,0.000000,0.000000,10.5562
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Gly13530Ser/c.40588G>A,Ggc/Agc,MODERATE,,,,,0.23(T),"0.772,0.991(P,D)",3.005(M),-0.6020(T),,chr19,9000169,9000169,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly13530Ser/c.40588G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|55|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"1.09,1.09(T,T)",0.2392(T),0.497,3.037317,2.9,1.85,0.305000,1.626000,0.208000,0.246000,0.830000,0.000000,5.125
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ser13529Ser/c.40587T>C,tcT/tcC,LOW,,,,,,,,-0.9838(T),,chr19,9000170,9000170,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser13529Ser/c.40587T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|55|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.0656(T),.,0.606250,2.9,-2.1,0.254000,-0.400000,-2.719000,0.255000,0.228000,0.000000,4.0227
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Val13524Val/c.40572T>C,gtT/gtC,LOW,,,,,,,,-0.9857(T),,chr19,9000185,9000185,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val13524Val/c.40572T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|55|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.0654(T),.,0.627229,2.9,-5.79,0.254000,-1.446000,-1.616000,0.299000,0.000000,0.000000,6.4955
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Val13524Ile/c.40570G>A,Gtt/Att,MODERATE,,,,,0.83(T),"0.008,0.889(B,P)",1.71(L),-0.9783(T),,chr19,9000187,9000187,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val13524Ile/c.40570G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|55|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"2.0,2.0(T,T)",0.0563(T),0.12,0.074757,2.9,-4.61,0.305000,-0.690000,-2.899000,0.312000,0.000000,0.000000,0.7772
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Asn13521Asn/c.40563C>T,aaC/aaT,LOW,,,,,,,,-1.0007(T),,chr19,9000194,9000194,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn13521Asn/c.40563C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|55|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.0435(T),.,0.253494,2.9,-5.79,0.305000,-0.699000,-3.075000,0.268000,0.001000,0.000000,3.1249
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Val13518Leu/c.40552G>T,Gtg/Ttg,MODERATE,,,,,,"0.0,0.523(B,P)",,-0.9760(T),,chr19,9000205,9000205,C,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val13518Leu/c.40552G>T|14507|MUC16|protein_coding|CODING|NM_024690.2|55|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,"3.4,3.4(T,T)",0.0179(T),0.097,-0.875876,2.9,-4.77,-3.543000,-2.200000,-0.892000,0.005000,0.000000,0.000000,0.6851
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Pro13517Pro/c.40551T>C,ccT/ccC,LOW,,,,,,,,-0.9920(T),,chr19,9000206,9000206,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro13517Pro/c.40551T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|55|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,0.0637(T),.,-0.266125,2.9,-2.34,-2.373000,-0.564000,-2.640000,0.001000,0.000000,0.000000,3.5478
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Met13472Thr/c.40415T>C,aTg/aCg,MODERATE,COSM3757454(1),0.598243,0.6062,rs12976122,1(T),0.067(B),,-0.9964(T),,chr19,9001833,9001833,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met13472Thr/c.40415T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|53|1),splice_region_variant(LOW|||c.40415T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|53|1)",,,,,0.6728,0.7219,0.7177,0.65,0.47,0.73,,,,"1.48,2.05(T,T)",0.0000(T),0.085,-1.423077,1.04,-0.0904,-0.830000,-0.397000,-0.127000,0.056000,0.001000,0.000000,3.9375
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Pro13471Pro/c.40413C>T,ccC/ccT,LOW,COSM3757456(1),0.598442,0.6071,rs12985778,0.62(T),,,-0.9723(T),,chr19,9001835,9001835,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro13471Pro/c.40413C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|53|1),,,,,0.6728,0.7219,0.7177,0.65,0.47,0.73,,,,,0.0000(T),.,-0.442185,1.04,-2.08,-0.798000,-0.730000,-0.128000,0.087000,0.001000,0.000000,4.6521
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Asn13438Asp/c.40312A>G,Aat/Gat,MODERATE,COSM3933251(2),0.000798722,0,rs78327556,0.2(T),"0.008,0.959(B,D)",2.81(M),-0.7303(T),,chr19,9002504,9002504,T,C,het,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn13438Asp/c.40312A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|51|1),,,,,0,0,0,,,,,,,"1.19,1.19(T,T)",0.1979(T),0.281,2.074535,2.75,1.72,0.260000,0.474000,1.298000,0.025000,0.938000,0.999000,4.4634
missense_variant,MUC16,MISSENSE,NM_024690.2:p.His13433Asp/c.40297C>G,Cac/Gac,MODERATE,COSM3933252(2),,,rs150783178,1(T),"0.0,0.355(B,B)",,-1.0483(T),,chr19,9002519,9002519,G,C,het,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His13433Asp/c.40297C>G|14507|MUC16|protein_coding|CODING|NM_024690.2|51|1),,,,,,,,0.22,0.21,0.22,,,,"2.09,2.09(T,T)",0.0000(T),0.244,-0.928000,2.75,-5.49,-2.847000,-1.841000,-3.152000,0.000000,0.000000,0.000000,5.9168
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Arg13341His/c.40022G>A,cGt/cAt,MODERATE,COSM3757458(1),0.620008,0.6071,rs11085776,0(D),0.044(B),,-1.1019(T),,chr19,9003618,9003618,C,T,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg13341His/c.40022G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|49|1),,,,,0.6718,0.7291,0.7177,0.68,0.55,0.74,,,,1.57(T),0.0000(T),0.046,0.046692,3.24,-6.47,-4.955000,-2.840000,-4.861000,0.000000,0.000000,0.000000,10.8862
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr13332Ile/c.39995C>T,aCt/aTt,MODERATE,COSM3757459(2),0.252196,0.2698,rs11085777,0(D),"0.003,0.219(B,B)",1.845(L),-0.9583(T),,chr19,9003645,9003645,G,A,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr13332Ile/c.39995C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|49|1),,,,,0.2249,0.3617,0.4135,0.31,0.13,0.39,,,,0.72(T),0.0000(T),0.094,1.697732,3.07,-2.8,-1.263000,-0.543000,-0.040000,0.000000,0.017000,0.137000,3.1321
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Asp13229Asp/c.39687T>C,gaT/gaC,LOW,COSM3757464(2),0.733227,0.7361,rs4804375,,,,-1.0056(T),,chr19,9005719,9005719,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp13229Asp/c.39687T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|46|1),HeLa-S3:H3K36me3,,,,0.729,0.8098,0.7187,0.74,0.73,0.75,,,,,0.0000(T),.,-0.178229,3.51,-4.1,-0.475000,-0.691000,-0.802000,0.001000,0.000000,0.000000,3.1733
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Tyr13216Tyr/c.39648T>C,taT/taC,LOW,COSM4132839(1),,,rs79341062,,,,-0.9321(T),,chr19,9006370,9006370,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr13216Tyr/c.39648T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|45|1),HeLa-S3:H3K36me3,,,,,,,,,,,,,,0.0980(T),.,-0.391777,2.73,-2.09,-2.373000,-0.715000,-2.632000,0.002000,0.001000,0.000000,7.5909
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ser13070Ser/c.39210T>C,tcT/tcC,LOW,,,,,,,,,,chr19,9008342,9008342,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser13070Ser/c.39210T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|41|1),HeLa-S3:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser13070Pro/c.39208T>C,Tct/Cct,MODERATE,,,,rs201969086,0(D),0.001(B),,-1.0138(T),,chr19,9008344,9008344,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser13070Pro/c.39208T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|41|1),splice_region_variant(LOW|||c.39208T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|41|1)",HeLa-S3:H3K36me3,,,,,,,,,,,,,2.23(T),0.0262(T),0.143,-0.474728,2.04,-4.08,-1.266000,-1.511000,-3.503000,0.003000,0.000000,0.000000,4.9006
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ser13033Ser/c.39099C>T,tcC/tcT,LOW,,,,,,,,,,chr19,9009627,9009627,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser13033Ser/c.39099C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|39|1),HeLa-S3:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Gly13032Gly/c.39096C>A,ggC/ggA,LOW,,,,,,,,,,chr19,9009630,9009630,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly13032Gly/c.39096C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|39|1),HeLa-S3:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Pro12875Pro/c.38625A>T,ccA/ccT,LOW,COSM3933265(1),,,rs4992694,,,,,,chr19,9012819,9012819,T,A,het,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro12875Pro/c.38625A>T|14507|MUC16|protein_coding|CODING|NM_024690.2|34|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Tyr12868Tyr/c.38604C>T,taC/taT,LOW,COSM4132841(1),,,rs4992692,,,,,,chr19,9012840,9012840,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr12868Tyr/c.38604C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|34|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser12514Thr/c.37541G>C,aGc/aCc,MODERATE,,0.652756,0.5208,rs12981679,0(D),0.0(B),,-1.0367(T),,chr19,9019605,9019605,C,G,hom,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser12514Thr/c.37541G>C|14507|MUC16|protein_coding|CODING|NM_024690.2|22|1),HeLa-S3:H3K36me3,,,,0.7546,0.5778,0.7893,0.73,0.67,0.76,,,,1.21(T),0.0000(T),0.02,0.491434,1.43,1.43,-0.295000,0.159000,0.190000,0.148000,0.247000,0.006000,5.58
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ser12447Ser/c.37341T>C,tcT/tcC,LOW,,0.446486,0.4623,rs11882881,,,,,,chr19,9020154,9020154,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser12447Ser/c.37341T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|21|1),HeLa-S3:H3K36me3,,,,0.4581,0.5418,0.3966,0.38,0.39,0.38,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Glu12290Lys/c.36868G>A,Gag/Aag,MODERATE,COSM148476(1),0.304113,0.2421,rs67631215,0(D),0.013(B),1.6(L),-0.9712(T),,chr19,9024994,9024994,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu12290Lys/c.36868G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|16|1),HeLa-S3:H3K36me3,,,,0.3875,0.2939,0.4026,0.34,0.25,0.38,,,,0.94(T),0.0000(T),0.022,1.282635,2.57,1.51,-1.098000,0.643000,-0.021000,0.001000,0.004000,0.000000,5.6295
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Leu12284Leu/c.36850T>C,Ttg/Ctg,LOW,COSM3746514(2),,,rs200791776,,,,,,chr19,9025604,9025604,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu12284Leu/c.36850T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|15|1),HeLa-S3:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr12140Met/c.36419C>T,aCg/aTg,MODERATE,,0.214058,0.2381,rs56396897,0(D),0.998(D),,-1.0350(T),,chr19,9028373,9028373,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr12140Met/c.36419C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|11|1),,,,,0.2791,0.2075,0.341,0.25,0.10,0.32,,,,1.07(T),0.0000(T),0.117,1.593164,2.63,2.63,0.591000,1.757000,2.623000,0.015000,0.496000,0.974000,8.8909
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser11585Arg/c.34755C>A,agC/agA,MODERATE,,0.185104,0.3363,rs4804378,0(D),0.053(B),1.795(L),-0.9246(T),,chr19,9046876,9046876,G,T,het,missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser11585Arg/c.34755C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.1503,0.2752,0.167,0.15,0.08,0.18,,,,4.02(T),0.0000(T),0.082,0.062787,2.29,-0.244,0.197000,-0.010000,-1.329000,0.020000,0.000000,0.000000,4.6081
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Gly11455Asp/c.34364G>A,gGt/gAt,MODERATE,,0.189497,0.0258,rs10410169,0(D),0.297(B),1.355(L),-0.8961(T),,chr19,9047267,9047267,C,T,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly11455Asp/c.34364G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.2444,0.1988,0.2823,0.26,0.19,0.30,,,,3.54(T),0.0000(T),0.089,0.676019,3.05,0.877,0.306000,0.307000,-1.197000,0.182000,0.001000,0.000000,5.0244
synonymous_variant,MUC16,SILENT,NM_024690.2:p.His11442His/c.34326C>T,caC/caT,LOW,,0.183307,0.0258,rs10415818,,,,,,chr19,9047305,9047305,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His11442His/c.34326C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.2444,0.1945,0.2823,0.26,0.17,0.30,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ala11199Gly/c.33596C>G,gCt/gGt,MODERATE,,0.189497,0.0258,rs10417358,0(D),0.351(B),0.69(N),-0.8694(T),,chr19,9048035,9048035,G,C,het,missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala11199Gly/c.33596C>G|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.2444,0.1988,0.2823,0.27,0.19,0.30,,,,4.17(T),0.0000(T),0.078,1.225012,2.54,1.44,0.306000,0.586000,0.657000,0.590000,0.001000,0.002000,5.6913
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser11154Phe/c.33461C>T,tCt/tTt,MODERATE,,0.189297,0.0258,rs10417600,0(D),0.991(D),1.735(L),-0.8999(T),,chr19,9048170,9048170,G,A,het,missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser11154Phe/c.33461C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),,,,,0.2444,0.1988,0.2813,0.27,0.20,0.30,,,,4.18(T),0.0000(T),0.146,0.526597,3.43,2.39,0.550000,0.994000,0.463000,0.011000,0.002000,0.001000,6.5891
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser11104Asn/c.33311G>A,aGt/aAt,MODERATE,COSM3773933(2),0.185104,0.3363,rs56334501,0(D),0.26(B),1.955(M),-0.9259(T),,chr19,9048320,9048320,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser11104Asn/c.33311G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.1503,0.2752,0.167,0.15,0.08,0.18,,,,4.21(T),0.0000(T),0.04,2.099153,2.94,0.273,-0.345000,0.105000,-1.768000,0.023000,0.000000,0.000000,7.801
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Thr11070Thr/c.33210A>G,acA/acG,LOW,COSM4132857(1),0.185104,0.3363,rs56194405,,,,,,chr19,9048421,9048421,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr11070Thr/c.33210A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.1503,0.2752,0.167,0.15,0.08,0.18,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro10828Ser/c.32482C>T,Cct/Tct,MODERATE,,0.199081,0.0258,rs12461007,0(D),0.014(B),0(N),-0.8825(T),,chr19,9049149,9049149,G,A,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro10828Ser/c.32482C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.2444,0.2695,0.2813,0.27,0.19,0.30,,,,4.04(T),0.0000(T),0.053,0.239478,3.0,-5.99,-0.633000,-1.512000,-0.091000,0.006000,0.000000,0.001000,6.055
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Thr10764Thr/c.32292G>C,acG/acC,LOW,,0.395767,0.3621,rs11883220,,,,,,chr19,9049339,9049339,C,G,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr10764Thr/c.32292G>C|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.3967,0.5533,0.4493,0.43,0.31,0.49,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Gly10745Gly/c.32235G>C,ggG/ggC,LOW,,0.1875,0.0258,rs10425044,,,,,,chr19,9049396,9049396,C,G,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly10745Gly/c.32235G>C|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.2444,0.2637,0.2823,0.26,0.16,0.30,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Arg10574His/c.31721G>A,cGt/cAt,MODERATE,,0.185304,0.3363,rs56307190,0(D),0.004(B),-0.695(N),-0.9427(T),,chr19,9049910,9049910,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg10574His/c.31721G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|5|1),HeLa-S3:H3K36me3,,,,0.1503,0.2752,0.167,0.15,0.08,0.18,,,,4.11(T),0.0000(T),0.067,0.546438,3.2,-0.111,-0.711000,0.055000,0.183000,0.000000,0.000000,0.000000,5.6847
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Thr10172Thr/c.30516A>C,acA/acC,LOW,,0.243211,0.0258,rs918535,,,,,,chr19,9056930,9056930,T,G,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr10172Thr/c.30516A>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2474,0.2867,0.2833,0.31,0.32,0.30,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Phe10169Leu/c.30505T>C,Ttt/Ctt,MODERATE,,0.19369,0.0258,rs10410136,0(D),0.002(B),-0.975(N),-0.9299(T),,chr19,9056941,9056941,A,G,het,missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe10169Leu/c.30505T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2474,0.2666,0.2823,0.26,0.18,0.30,,,,4.29(T),0.0000(T),0.038,0.944925,3.07,-0.497,0.383000,-0.091000,0.150000,0.035000,0.000000,0.000000,5.5872
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Glu10153Gln/c.30457G>C,Gag/Cag,MODERATE,,0.186102,0.3313,rs386505447,0(D),0.335(B),0.975(L),-0.9699(T),,chr19,9056989,9056989,C,G,het,missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu10153Gln/c.30457G>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1503,0.281,0.167,0.15,0.08,0.18,,,,1.02(T),0.0000(T),0.021,0.176786,2.85,-0.7,-0.300000,-0.044000,-0.107000,0.009000,0.000000,0.000000,4.9506
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Leu10013Pro/c.30038T>C,cTc/cCc,MODERATE,,0.912939,0.8542,rs1423051,0(D),0.001(B),,-1.0391(T),,chr19,9057408,9057408,A,G,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu10013Pro/c.30038T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8681,0.9323,0.8946,0.94,0.98,0.92,,,,2.25(T),0.0000(T),0.023,-0.170892,2.32,-1.88,-0.349000,-0.777000,-0.002000,0.011000,0.000000,0.000000,7.239
missense_variant,MUC16,MISSENSE,NM_024690.2:p.His9993Leu/c.29978A>T,cAc/cTc,MODERATE,,0.00978435,0,rs78494460,0(D),0.002(B),0.695(N),-1.0437(T),,chr19,9057468,9057468,T,A,het,missense_variant(MODERATE|MISSENSE|cAc/cTc|p.His9993Leu/c.29978A>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.0112,0.0101,0.0288,0.02,0.00,0.03,,,,1.85(T),0.0092(T),0.057,-0.140959,1.76,0.668,-0.710000,0.125000,1.158000,0.014000,0.019000,0.025000,3.801
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ile9920Thr/c.29759T>C,aTa/aCa,MODERATE,,0.858626,0.8542,rs1895364,0(D),0.0(B),,-1.0910(T),,chr19,9057687,9057687,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile9920Thr/c.29759T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8548,0.8991,0.8738,0.88,0.86,0.90,,,,4.61(T),0.0000(T),0.013,-0.125612,2.28,0.0232,-0.374000,-0.197000,-0.531000,0.000000,0.000000,0.000000,2.292
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ile9914Ile/c.29742C>A,atC/atA,LOW,,0.208866,0.0258,rs12984130,,,,,,chr19,9057704,9057704,G,T,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile9914Ile/c.29742C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2485,0.219,0.3121,0.30,0.23,0.34,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Val9909Ile/c.29725G>A,Gtc/Atc,MODERATE,COSM3757474(1),0.442093,0.5635,rs2216662,0(D),0.014(B),0.55(N),-0.9614(T),,chr19,9057721,9057721,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val9909Ile/c.29725G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.4663,0.4856,0.4732,0.42,0.30,0.47,,,,4.3(T),0.0000(T),0.038,0.280553,2.42,-4.85,0.557000,-1.826000,-1.382000,0.023000,0.000000,0.000000,0.3447
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Tyr9899Phe/c.29696A>T,tAt/tTt,MODERATE,,0.21865,0.0258,rs12982113,0(D),0.0(B),0.345(N),-0.9094(T),,chr19,9057750,9057750,T,A,het,missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr9899Phe/c.29696A>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2485,0.2896,0.3121,0.31,0.24,0.34,,,,4.22(T),0.0000(T),0.029,0.241363,2.62,-1.0,-2.479000,-0.471000,-0.375000,0.000000,0.000000,0.000000,2.3546
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Asp9850Glu/c.29550C>G,gaC/gaG,MODERATE,,0.208866,0.0258,rs12984471,0(D),0.0(B),-0.55(N),-0.9244(T),,chr19,9057896,9057896,G,C,het,missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp9850Glu/c.29550C>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2485,0.219,0.3121,0.30,0.23,0.34,,,,2.12(T),0.0000(T),0.024,0.324052,2.43,-1.59,-0.224000,-0.660000,-4.110000,0.001000,0.000000,0.000000,4.2005
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro9608Ser/c.28822C>T,Ccc/Tcc,MODERATE,COSM3764787(1),0.192492,0.3313,rs11878666,0(D),0.021(B),,-0.9180(T),,chr19,9058624,9058624,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro9608Ser/c.28822C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1493,0.2824,0.167,0.16,0.10,0.18,,,,4.82(T),0.0000(T),0.038,0.801892,2.5,-5.0,0.305000,-1.950000,-0.925000,0.542000,0.000000,0.000000,2.0697
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ala9502Thr/c.28504G>A,Gct/Act,MODERATE,COSM3757476(1),0.439497,0.5546,rs1833778,0(D),0.0(B),,-0.9465(T),,chr19,9058942,9058942,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala9502Thr/c.28504G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.4632,0.487,0.4742,0.42,0.31,0.47,,,,2.17(T),0.0000(T),0.008,-0.318202,2.29,-4.58,-1.013000,-3.882000,-2.608000,0.020000,0.000000,0.000000,2.0581
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Gln9405Arg/c.28214A>G,cAg/cGg,MODERATE,COSM4132863(1),0.18111,0.0099,rs12710265,0(D),0.019(B),0.695(N),-0.9315(T),,chr19,9059232,9059232,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln9405Arg/c.28214A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2474,0.2075,0.3121,0.28,0.16,0.34,,,,1.98(T),0.0000(T),0.072,0.039079,2.14,-0.0415,0.255000,-0.076000,-0.483000,0.038000,0.001000,0.000000,4.3999
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ile9213Thr/c.27638T>C,aTc/aCc,MODERATE,,0.857029,0.8522,rs7508222,0(D),0.0(B),,-1.0671(T),,chr19,9059808,9059808,A,G,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile9213Thr/c.27638T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8528,0.9006,0.8767,0.88,0.85,0.90,,,,2.19(T),0.0000(T),0.016,-0.344116,2.29,-0.0273,-0.402000,0.073000,-0.735000,0.004000,0.000000,0.000000,4.8035
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Asp9129Glu/c.27387T>G,gaT/gaG,MODERATE,,0.179113,0.0099,rs12977368,0(D),0.444(B),0.695(N),-0.9539(T),,chr19,9060059,9060059,A,C,het,missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp9129Glu/c.27387T>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2444,0.2061,0.3121,0.28,0.15,0.34,,,,1.91(T),0.0000(T),0.018,0.477708,2.34,-1.19,-0.775000,-0.409000,-2.522000,0.114000,0.000000,0.000000,2.9933
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ala9121Thr/c.27361G>A,Gct/Act,MODERATE,,0.201278,0.3254,rs4804382,0(D),0.0(B),-0.805(N),-0.9181(T),,chr19,9060085,9060085,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala9121Thr/c.27361G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1963,0.2824,0.167,0.16,0.10,0.18,,,,2.33(T),0.0000(T),0.012,0.486880,1.7,-0.777,-0.965000,-0.829000,-0.563000,0.113000,0.000000,0.000000,2.2742
synonymous_variant,MUC16,SILENT,NM_024690.2:p.His9107His/c.27321C>T,caC/caT,LOW,,0.210264,0.0099,rs12972088,,,,,,chr19,9060125,9060125,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His9107His/c.27321C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2444,0.2118,0.3121,0.31,0.24,0.34,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Val8969Met/c.26905G>A,Gtg/Atg,MODERATE,,0.391773,0.5933,rs11882256,0(D),0.002(B),0.69(N),-0.9629(T),,chr19,9060541,9060541,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val8969Met/c.26905G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.3374,0.4712,0.2525,0.28,0.32,0.26,,,,2.04(T),0.0000(T),0.036,-0.370133,2.62,-5.24,-0.871000,-3.677000,-7.589000,0.092000,0.000000,0.000000,3.1852
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Gly8958Gly/c.26874C>T,ggC/ggT,LOW,,0.202077,0.3254,rs56405542,,,,,,chr19,9060572,9060572,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly8958Gly/c.26874C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1963,0.2824,0.167,0.16,0.10,0.18,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ser8947Ser/c.26841C>T,agC/agT,LOW,,0.856829,0.8522,rs2194168,,,,,,chr19,9060605,9060605,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser8947Ser/c.26841C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8528,0.9006,0.8767,0.88,0.85,0.90,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ser8878Ser/c.26634A>G,tcA/tcG,LOW,,0.857428,0.8522,rs1820099,,,,,,chr19,9060812,9060812,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser8878Ser/c.26634A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),"H1ESC:H3K9me3,HeLa-S3:H3K36me3",,,,0.8558,0.9006,0.8767,0.88,0.85,0.90,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Thr8629Thr/c.25887G>C,acG/acC,LOW,COSM4154448(1),0.383187,0.5933,rs1423052,,,,,,chr19,9061559,9061559,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr8629Thr/c.25887G>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.3374,0.4006,0.2525,0.28,0.33,0.26,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Asp8344Ala/c.25031A>C,gAc/gCc,MODERATE,,0.588658,0.6042,rs12978757,0(D),0.0(B),-0.895(N),-0.9424(T),,chr19,9062415,9062415,T,G,hom,missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp8344Ala/c.25031A>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.5838,0.6801,0.5646,0.59,0.56,0.61,,,,1.99(T),0.0000(T),0.036,0.046398,2.5,-5.0,-1.931000,-1.816000,-0.632000,0.000000,0.000000,0.000000,7.0457
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Asn8301Thr/c.24902A>C,aAc/aCc,MODERATE,,0.873602,0.8522,rs2547063,0(D),0.0(B),,-1.0827(T),,chr19,9062544,9062544,T,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn8301Thr/c.24902A>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8548,0.902,0.8767,0.90,0.89,0.90,,,,2.34(T),0.0000(T),0.024,0.133283,2.78,0.406,-0.575000,-0.066000,-0.711000,0.050000,0.000000,0.000000,3.0614
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr7063Ala/c.21187A>G,Act/Gct,MODERATE,COSM1129649(4),0.351038,0.2768,rs17000770,0(D),0.533(P),1.24(L),-0.9272(T),,chr19,9066259,9066259,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr7063Ala/c.21187A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.363,0.3746,0.3489,0.37,0.37,0.37,,,,1.75(T),0.0000(T),0.029,0.136008,2.54,-0.117,0.334000,-0.128000,1.613000,0.003000,0.001000,0.160000,5.3856
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro6858Thr/c.20572C>A,Cca/Aca,MODERATE,,0.201078,0.3254,rs12609150,0(D),0.027(B),0.895(L),-0.9265(T),,chr19,9066874,9066874,G,T,het,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro6858Thr/c.20572C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1943,0.2824,0.167,0.16,0.10,0.18,,,,1.76(T),0.0000(T),0.037,-0.302824,2.12,-2.96,-0.513000,-0.553000,-0.960000,0.002000,0.000000,0.000000,2.1735
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser5885Phe/c.17654C>T,tCc/tTc,MODERATE,,0.200879,0.3254,rs1862458,0(D),0.966(D),1.445(L),-0.9677(T),,chr19,9069792,9069792,G,A,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser5885Phe/c.17654C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1943,0.2824,0.167,0.16,0.10,0.18,,,,1.83(T),0.0000(T),0.065,0.019520,1.87,1.87,0.305000,1.369000,-0.065000,0.004000,0.002000,0.000000,7.2365
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Phe5852Val/c.17554T>G,Ttt/Gtt,MODERATE,,0.254593,0.3264,rs1862460,0(D),0.0(B),-0.695(N),-0.9291(T),,chr19,9069892,9069892,A,C,het,missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe5852Val/c.17554T>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1943,0.2911,0.169,0.21,0.26,0.18,,,,4.2(T),0.0000(T),0.043,-0.118983,1.74,-0.715,-0.729000,-0.452000,-2.147000,0.009000,0.000000,0.000000,2.8277
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ile5751Thr/c.17252T>C,aTc/aCc,MODERATE,,0.942093,0.8829,rs1344572,0(D),0.0(B),-0.805(N),-1.0443(T),,chr19,9070194,9070194,A,G,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile5751Thr/c.17252T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.9335,0.9683,0.9195,0.96,0.99,0.94,,,,3.17(T),0.0000(T),0.054,-0.414369,1.73,0.669,-1.212000,-0.053000,-0.381000,0.000000,0.000000,0.000000,4.215
missense_variant,MUC16,MISSENSE,NM_024690.2:p.His5741Asp/c.17221C>G,Cac/Gac,MODERATE,COSM3757482(1),0.813299,0.8512,rs1559172,0(D),0.0(B),0(N),-1.0652(T),,chr19,9070225,9070225,G,C,hom,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His5741Asp/c.17221C>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8303,0.866,0.827,0.82,0.76,0.85,,,,2.04(T),0.0000(T),0.057,-0.663347,1.73,-0.66,-3.008000,-0.438000,-1.248000,0.000000,0.000000,0.000000,4.313
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro5682Thr/c.17044C>A,Ccc/Acc,MODERATE,,0.163538,0.0089,rs12150888,0(D),0.839(P),,-1.0737(T),,chr19,9070402,9070402,G,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro5682Thr/c.17044C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2229,0.2536,0.2634,0.24,0.13,0.29,,,,1.33(T),0.0000(T),0.006,-0.615735,1.87,-2.48,-1.549000,-0.422000,-2.309000,0.000000,0.000000,0.000000,0.9034
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro5537Ser/c.16609C>T,Ccc/Tcc,MODERATE,,0.819688,0.8512,rs2547067,0(D),0.0(B),-0.975(N),-1.0544(T),,chr19,9070837,9070837,G,A,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro5537Ser/c.16609C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8303,0.8718,0.827,0.83,0.78,0.85,,,,4.04(T),0.0000(T),0.037,-0.243731,1.89,-2.0,-0.914000,-1.245000,0.099000,0.001000,0.000000,0.000000,3.6114
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Asn5228Ile/c.15683A>T,aAc/aTc,MODERATE,,0.81849,0.8512,rs10422567,0(D),0.0(B),0.345(N),-1.0924(T),,chr19,9071763,9071763,T,A,hom,missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn5228Ile/c.15683A>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.8252,0.8703,0.827,0.83,0.78,0.85,,,,4.24(T),0.0000(T),0.023,-0.240313,1.74,0.647,-0.561000,-0.215000,-3.190000,0.004000,0.004000,0.000000,1.5083
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Pro5204Pro/c.15612C>G,ccC/ccG,LOW,,0.201078,0.3254,rs17000803,,,,,,chr19,9071834,9071834,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro5204Pro/c.15612C>G|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1943,0.2824,0.167,0.16,0.10,0.18,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Gly5075Gly/c.15225C>T,ggC/ggT,LOW,,0.201078,0.3254,rs66498329,,,,,,chr19,9072221,9072221,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly5075Gly/c.15225C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.1943,0.2824,0.167,0.16,0.10,0.18,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Thr5050Thr/c.15150C>A,acC/acA,LOW,,0.16853,0.0089,rs7254970,,,,,,chr19,9072296,9072296,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr5050Thr/c.15150C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2209,0.1844,0.2634,0.25,0.17,0.29,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Val4857Val/c.14571C>T,gtC/gtT,LOW,COSM3757487(1),0.186701,0.3254,rs73009098,,,,,,chr19,9072875,9072875,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val4857Val/c.14571C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.18,0.2536,0.1322,0.12,0.10,0.14,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr4824Met/c.14471C>T,aCg/aTg,MODERATE,COSM1564909(2),0.186901,0.3254,rs17000816,0(D),0.001(B),-0.69(N),-0.9222(T),,chr19,9072975,9072975,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr4824Met/c.14471C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.181,0.2536,0.1322,0.12,0.10,0.14,,,,2.08(T),0.0000(T),0.02,-0.495688,2.02,-1.54,-0.692000,-0.474000,-1.495000,0.007000,0.000000,0.000000,5.65
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro4458Leu/c.13373C>T,cCt/cTt,MODERATE,,0.186502,0.3254,rs72486387,0(D),0.104(B),1.15(L),-0.9047(T),,chr19,9074073,9074073,G,A,het,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro4458Leu/c.13373C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.18,0.2536,0.1312,0.12,0.09,0.14,,,,1.99(T),0.0000(T),0.043,1.166313,2.13,2.13,0.305000,1.499000,2.389000,0.513000,0.002000,0.007000,7.7927
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr4394Ile/c.13181C>T,aCt/aTt,MODERATE,,0.153355,0.0089,rs10406209,0(D),0.18(B),0(N),-0.8611(T),,chr19,9074265,9074265,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr4394Ile/c.13181C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.2209,0.183,0.2634,0.23,0.12,0.29,,,,4.28(T),0.0000(T),0.106,-0.060188,1.67,0.509,0.305000,0.231000,0.366000,0.166000,0.000000,0.000000,5.6254
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ile4034Phe/c.12100A>T,Att/Ttt,MODERATE,,0.438299,0.2579,rs2591592,0(D),0.737(P),1.1(L),-0.9381(T),,chr19,9075346,9075346,T,A,het,missense_variant(MODERATE|MISSENSE|Att/Ttt|p.Ile4034Phe/c.12100A>T|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.498,0.4683,0.5755,0.54,0.45,0.59,,,,4.19(T),0.0000(T),0.076,0.264864,2.33,-1.05,0.260000,-0.363000,-0.602000,0.071000,0.000000,0.000000,2.0719
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Pro3289Thr/c.9865C>A,Cca/Aca,MODERATE,COSM3757493(2),0.1873,0.3254,rs73011014,0(D),0.779(P),0(N),-0.8492(T),,chr19,9077581,9077581,G,T,het,missense_variant(MODERATE|MISSENSE|Cca/Aca|p.Pro3289Thr/c.9865C>A|14507|MUC16|protein_coding|CODING|NM_024690.2|3|1),HeLa-S3:H3K36me3,,,,0.18,0.2536,0.1322,0.12,0.10,0.14,,,,4.02(T),0.0000(T),0.035,0.847619,1.67,-0.84,0.313000,-0.166000,-0.230000,0.851000,0.000000,0.001000,4.138
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser3190Thr/c.9569G>C,aGc/aCc,MODERATE,,0.604433,0.8125,rs2547065,0(D),0.0(B),,-1.0918(T),,chr19,9080462,9080462,C,G,hom,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser3190Thr/c.9569G>C|14507|MUC16|protein_coding|CODING|NM_024690.2|2|1),,,,,0.6258,0.611,0.5994,0.57,0.48,0.61,,,,4.68(T),0.0000(T),0.02,-0.553583,0.926,0.926,-0.647000,-0.035000,-0.194000,0.015000,0.010000,0.001000,4.8195
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Val2897Val/c.8691C>T,gtC/gtT,LOW,COSM148497(1),0.138978,0.0496,rs12608495,,,,,,chr19,9083124,9083124,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val2897Val/c.8691C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),,,,,0.2157,0.1527,0.3042,0.23,0.07,0.30,,,,,,,,,,,,,,,,
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Ala2796Ala/c.8388T>C,gcT/gcC,LOW,COSM4132879(1),0.21266,0.3036,rs1609453,,,,,,chr19,9083427,9083427,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala2796Ala/c.8388T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),,,,,0.1953,0.2752,0.173,0.17,0.15,0.18,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Met2786Ile/c.8358G>A,atG/atA,MODERATE,,0.190296,0.3036,rs17000886,0(D),0.216(B),0(N),-0.9122(T),,chr19,9083457,9083457,C,T,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met2786Ile/c.8358G>A|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),,,,,0.1953,0.2709,0.173,0.15,0.07,0.18,,,,4.46(T),0.0000(T),0.136,0.326198,0.235,0.235,0.313000,0.308000,0.500000,0.417000,0.407000,0.116000,.
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Pro2544Pro/c.7632C>T,ccC/ccT,LOW,,0.416334,0.3264,rs1609460,,,,,,chr19,9084183,9084183,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro2544Pro/c.7632C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),"HeLa-S3:Nrsf,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.4346,0.5677,0.4831,0.45,0.33,0.51,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr2506Ala/c.7516A>G,Acc/Gcc,MODERATE,COSM1398149(2),0.416733,0.3264,rs1609458,0(D),0.801(P),,-0.9602(T),,chr19,9084299,9084299,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr2506Ala/c.7516A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),"HepG2:Nrsf,HeLa-S3:Nrsf,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.4346,0.5692,0.4841,0.45,0.34,0.51,,,,4.79(T),0.0000(T),0.014,-0.496774,0.225,0.225,0.254000,0.257000,0.793000,0.045000,0.044000,0.002000,.
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr2271Ala/c.6811A>G,Act/Gct,MODERATE,COSM3933274(1),0.190096,0.3036,rs11085805,0(D),0.0(B),0(N),-0.9205(T),,chr19,9085004,9085004,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr2271Ala/c.6811A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),,,,,0.1953,0.2709,0.172,0.15,0.07,0.18,,,,4.35(T),0.0000(T),0.01,-1.238975,0.225,-0.451,-0.902000,-0.874000,-0.705000,0.016000,0.016000,0.003000,.
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Ser2058Pro/c.6172T>C,Tct/Cct,MODERATE,,0.190096,0.3036,rs1574479,0(D),0.504(P),0(N),-0.8731(T),,chr19,9085643,9085643,A,G,het,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser2058Pro/c.6172T>C|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),,,,,0.1953,0.2709,0.172,0.14,0.07,0.18,,,,4.19(T),0.0000(T),0.108,-0.368789,0.731,0.731,0.246000,0.598000,0.031000,0.067000,0.010000,0.002000,3.8785
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Leu1833Phe/c.5497C>T,Ctc/Ttc,MODERATE,,0.190096,0.3036,rs4520945,0(D),0.934(D),0(N),-0.8184(T),,chr19,9086318,9086318,G,A,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu1833Phe/c.5497C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),,,,,0.1953,0.2709,0.172,0.14,0.07,0.18,,,,4.04(T),0.0000(T),0.05,-0.219341,0.732,0.732,0.305000,0.648000,0.004000,0.158000,0.002000,0.000000,.
synonymous_variant,MUC16,SILENT,NM_024690.2:p.Leu1666Leu/c.4996C>T,Ctg/Ttg,LOW,,0.190096,0.3036,rs1823056,,,,,,chr19,9086819,9086819,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1666Leu/c.4996C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),HeLa-S3:H3K36me3,,,,0.1953,0.2709,0.172,0.14,0.07,0.18,,,,,,,,,,,,,,,,
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Lys1400Asn/c.4200A>T,aaA/aaT,MODERATE,,0.996006,0.9802,rs1596798,0(D),0.0(B),0(N),-1.0668(T),,chr19,9087615,9087615,T,A,hom,missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys1400Asn/c.4200A>T|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),HeLa-S3:H3K36me3,,,,1,1,1,1.00,1.00,1.00,,,,4.18(T),0.0000(T),0.027,-0.261513,1.19,0.0103,-0.868000,-0.577000,-1.435000,0.015000,0.000000,0.000000,2.1216
missense_variant,MUC16,MISSENSE,NM_024690.2:p.His1353Tyr/c.4057C>T,Cat/Tat,MODERATE,,0.189896,0.3036,rs12611293,0(D),0.002(B),0(N),-0.9064(T),,chr19,9087758,9087758,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His1353Tyr/c.4057C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),HeLa-S3:H3K36me3,,,,0.1943,0.2709,0.172,0.14,0.08,0.18,,,,4.26(T),0.0000(T),0.075,-0.396620,1.62,0.548,0.305000,0.107000,-1.884000,0.030000,0.000000,0.000000,3.1685
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Lys1266Asn/c.3798A>C,aaA/aaC,MODERATE,,0.796326,0.7292,rs1596797,0(D),0.0(B),0(N),-0.9962(T),,chr19,9088017,9088017,T,G,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys1266Asn/c.3798A>C|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),HeLa-S3:H3K36me3,,,,0.7321,0.8084,0.6958,0.77,0.91,0.70,,,,4.18(T),0.0000(T),0.005,-0.680086,1.01,-2.01,-0.677000,-2.513000,-1.685000,0.030000,0.000000,0.000000,0.4032
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Thr1162Ile/c.3485C>T,aCt/aTt,MODERATE,,0.189896,0.3036,rs17000947,0(D),0.006(B),0(N),-0.9146(T),,chr19,9088330,9088330,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr1162Ile/c.3485C>T|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),HeLa-S3:H3K36me3,,,,0.1943,0.2709,0.172,0.14,0.07,0.18,,,,4.28(T),0.0000(T),0.068,-0.276221,1.09,-0.731,0.305000,-0.176000,-0.783000,0.250000,0.000000,0.000000,3.4331
missense_variant,MUC16,MISSENSE,NM_024690.2:p.Arg1015Gly/c.3043A>G,Agg/Ggg,MODERATE,,0.190096,0.3046,rs17000950,0(D),0.895(P),0(N),-0.8297(T),,chr19,9088772,9088772,T,C,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg1015Gly/c.3043A>G|14507|MUC16|protein_coding|CODING|NM_024690.2|1|1),HeLa-S3:H3K36me3,,,,0.1943,0.2709,0.172,0.14,0.07,0.18,,,,4.12(T),0.0000(T),0.114,-0.181980,1.36,1.36,0.260000,0.872000,-0.105000,0.046000,0.021000,0.000000,4.8612
synonymous_variant,OR1M1,SILENT,NM_001004456.1:p.Pro129Pro/c.387A>G,ccA/ccG,LOW,,0.717452,0.8899,rs4804097,,,,,,chr19,9204307,9204307,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro129Pro/c.387A>G|313|OR1M1|protein_coding|CODING|NM_001004456.1|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.7331,0.5807,0.6869,0.65,0.65,0.65,,,,,,,,,,,,,,,,
missense_variant,OR7G1,MISSENSE,NM_001005192.2:p.Tyr252Cys/c.755A>G,tAt/tGt,MODERATE,,0.33746,0.3254,rs2195951,0.01(D),0.33(B),3.37(M),-0.9091(T),,chr19,9225685,9225685,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr252Cys/c.755A>G|311|OR7G1|protein_coding|CODING|NM_001005192.2|1|1),HepG2:H3K27me3,,,,0.2945,0.1354,0.1918,0.29,0.53,0.17,,0.062851(U),1.000(P),"0.99,0.99(T,T)",0.0000(T),0.139,1.186540,3.78,2.63,0.410000,1.700000,-0.114000,0.291000,0.570000,0.000000,7.687
missense_variant,OR7G1,MISSENSE,NM_001005192.2:p.Trp141Cys/c.423G>C,tgG/tgC,MODERATE,,0.506789,0.3562,rs2217657,1(T),0.0(B),-2.855(N),-0.9898(T),,chr19,9226017,9226017,C,G,het,missense_variant(MODERATE|MISSENSE|tgG/tgC|p.Trp141Cys/c.423G>C|311|OR7G1|protein_coding|CODING|NM_001005192.2|1|1),HepG2:H3K27me3,,,,0.4908,0.2781,0.328,0.48,0.79,0.32,,0.000781(N),1.000(P),"1.39,1.39(T,T)",0.0000(T),0.06,-2.659280,3.78,1.58,-2.681000,-0.132000,-0.383000,0.003000,0.008000,0.000000,5.2712
missense_variant,OR7G1,MISSENSE,NM_001005192.2:p.Val83Ala/c.248T>C,gTg/gCg,MODERATE,,0.34385,0.3244,rs6511874,0.16(T),0.049(B),1.15(L),-1.0098(T),,chr19,9226192,9226192,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val83Ala/c.248T>C|311|OR7G1|protein_coding|CODING|NM_001005192.2|1|1),"HepG2:H3K27me3,K562:DNase1",,,,0.2955,0.1369,0.1918,0.30,0.54,0.17,,0.404446(N),1.000(P),"4.42,4.42(T,T)",0.0000(T),0.008,-0.460294,2.88,-2.47,-1.677000,-1.123000,-1.370000,0.017000,0.569000,0.000000,0.8776
synonymous_variant,OR7G3,SILENT,NM_001001958.1:p.Val247Val/c.741T>C,gtT/gtC,LOW,,0.423323,0.3651,rs10424352,,,,,,chr19,9236886,9236886,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val247Val/c.741T>C|312|OR7G3|protein_coding|CODING|NM_001001958.1|1|1),,,,,0.3354,0.245,0.3141,0.43,0.65,0.31,,,,,,,,,,,,,,,,
synonymous_variant,OR7G3,SILENT,NM_001001958.1:p.Ser64Ser/c.192T>C,tcT/tcC,LOW,COSM1129635(1),0.449081,0.3651,rs10407484,,,,,,chr19,9237435,9237435,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser64Ser/c.192T>C|312|OR7G3|protein_coding|CODING|NM_001001958.1|1|1),,,,,0.3415,0.2421,0.3141,0.44,0.70,0.31,,,,,,,,,,,,,,,,
missense_variant,OR7G3,MISSENSE,NM_001001958.1:p.Met29Val/c.85A>G,Atg/Gtg,MODERATE,,0.424521,0.3651,rs10414255,0.06(T),0.0(B),-1.53(N),-0.9382(T),,chr19,9237542,9237542,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met29Val/c.85A>G|312|OR7G3|protein_coding|CODING|NM_001001958.1|1|1),,,,,0.3354,0.245,0.3141,0.43,0.65,0.31,,0.622752(U),1.000(P),7.61(T),0.0000(T),0.059,1.312765,4.02,-8.03,-0.969000,-1.594000,-1.565000,0.007000,0.000000,0.000000,6.0865
missense_variant,ZNF317,MISSENSE,NM_020933.4:p.Gln19His/c.57G>T,caG/caT,MODERATE,COSM148499(3),0.128994,0.1488,rs3752199,0.22(T),"0.001,0.0(B,B)",0(N),-0.9347(T),,chr19,9267319,9267319,G,T,het,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln19His/c.57G>T|563|ZNF317|protein_coding|CODING|NM_001190791.1|3|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln19His/c.57G>T|595|ZNF317|protein_coding|CODING|NM_020933.4|3|1),non_coding_exon_variant(MODIFIER|||n.362G>T||ZNF317||CODING|NR_102435.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.1657,0.1998,0.15,0.07,0.19,,0.174304(N),1.000(P),"3.42,3.15(T,T)",0.0000(T),0.052,-0.345291,3.04,-3.55,-0.225000,-0.647000,-0.351000,0.279000,0.021000,0.001000,2.7311
missense_variant,ZNF177,MISSENSE,NM_001172651.1:p.Thr112Met/c.335C>T,aCg/aTg,MODERATE,COSM148501(3),0.595048,0.4623,rs2217652,0.33(T),0.0(B),0.205(N),-1.0862(T),,chr19,9490814,9490814,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr112Met/c.335C>T|321|ZNF559-ZNF177|protein_coding|CODING|NM_001172650.2|11|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr112Met/c.335C>T|481|ZNF177|protein_coding|CODING|NM_001172651.1|5|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr112Met/c.335C>T|120|ZNF559-ZNF177|protein_coding|CODING|NM_001202425.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr112Met/c.335C>T|321|ZNF177|protein_coding|CODING|NM_003451.2|8|1),splice_region_variant(LOW|||c.335C>T|321|ZNF559-ZNF177|protein_coding|CODING|NM_001172650.2|11|1),splice_region_variant(LOW|||c.335C>T|481|ZNF177|protein_coding|CODING|NM_001172651.1|5|1),splice_region_variant(LOW|||c.335C>T|120|ZNF559-ZNF177|protein_coding|CODING|NM_001202425.1|8|1),splice_region_variant(LOW|||c.335C>T|321|ZNF177|protein_coding|CODING|NM_003451.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5716,0.5677,0.5726,0.64,0.72,0.59,,,1.000(P),"5.43,5.63,5.43,3.37(T,T,T,T)",0.0000(T),0.146,-0.034961,2.65,-0.894,-0.360000,-0.686000,-0.858000,0.062000,0.041000,0.001000,7.6701
synonymous_variant,ZNF177,SILENT,NM_001172651.1:p.Ile378Ile/c.1134C>T,atC/atT,LOW,COSM3757507(1),0.54393,0.4504,rs3826783,,,,,,chr19,9492141,9492141,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile378Ile/c.1134C>T|481|ZNF177|protein_coding|CODING|NM_001172651.1|6|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile218Ile/c.654C>T|321|ZNF559-ZNF177|protein_coding|CODING|NM_001172650.2|12|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile218Ile/c.654C>T|321|ZNF177|protein_coding|CODING|NM_003451.2|9|1),3_prime_UTR_variant(MODIFIER||850|c.*850C>T|120|ZNF559-ZNF177|protein_coding|CODING|NM_001202425.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5644,0.5375,0.5606,0.59,0.60,0.58,,,,,,,,,,,,,,,,
missense_variant,ZNF177,MISSENSE,NM_001172651.1:p.Ile455Phe/c.1363A>T,Att/Ttt,MODERATE,COSM1129633(3),0.54373,0.4504,rs2230752,0.08(T),0.018(B),0.44(N),-0.9854(T),,chr19,9492370,9492370,A,T,het,"missense_variant(MODERATE|MISSENSE|Att/Ttt|p.Ile455Phe/c.1363A>T|481|ZNF177|protein_coding|CODING|NM_001172651.1|6|1),missense_variant(MODERATE|MISSENSE|Att/Ttt|p.Ile295Phe/c.883A>T|321|ZNF559-ZNF177|protein_coding|CODING|NM_001172650.2|12|1),missense_variant(MODERATE|MISSENSE|Att/Ttt|p.Ile295Phe/c.883A>T|321|ZNF177|protein_coding|CODING|NM_003451.2|9|1),3_prime_UTR_variant(MODIFIER||1079|c.*1079A>T|120|ZNF559-ZNF177|protein_coding|CODING|NM_001202425.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5644,0.5375,0.5606,0.59,0.60,0.58,,,0.972(P),"3.18,3.18,3.18(T,T,T)",0.0000(T),0.095,1.058455,2.49,-1.55,0.460000,-0.434000,-4.502000,0.994000,0.009000,0.000000,0.2864
synonymous_variant,ZNF266,SILENT,NM_001271314.1:p.Ala472Ala/c.1416T>C,gcT/gcC,LOW,COSM148503(2),0.594249,0.4613,rs2241356,,,,,,chr19,9524185,9524185,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala472Ala/c.1416T>C|549|ZNF266|protein_coding|CODING|NM_001271314.1|11|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala472Ala/c.1416T>C|549|ZNF266|protein_coding|CODING|NM_006631.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:SETDB1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5685,0.5663,0.5716,0.64,0.72,0.59,,,,,,,,,,,,,,,,
missense_variant,PIN1,MISSENSE,NM_006221.3:p.Ala124Ser/c.370G>T,Gcc/Tcc,MODERATE,,0.000399361,0,rs138056875,,"0.004,0.002,0.004(B,B,B)",0.31(N),-1.0627(T),,chr19,9958804,9958804,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala124Ser/c.370G>T|163|PIN1|protein_coding|CODING|NM_006221.3|3|1),non_coding_exon_variant(MODIFIER|||n.561G>T||PIN1||CODING|NR_038422.2|4|1),non_coding_exon_variant(MODIFIER|||n.561G>T||PIN1||CODING|NR_038830.1|4|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:H4K91ac,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,CD4:H2BK5me1,HMEC:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0,0,0.002,0.00,0.00,0.00,,0.130429(N),0.987(N),1.0(T),0.0463(T),0.141,1.630730,4.08,1.75,0.455000,0.908000,0.444000,0.988000,1.000000,0.088000,3.3262
missense_variant,COL5A3,MISSENSE,NM_015719.3:p.Ala1488Pro/c.4462G>C,Gcc/Ccc,MODERATE,COSM3756245(4),0.366214,0.5337,rs3745584,1(T),0.0(B),-0.565(N),-0.9705(T),,chr19,10077419,10077419,C,G,het,missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala1488Pro/c.4462G>C|1745|COL5A3|protein_coding|CODING|NM_015719.3|63|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,K562:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.5399,0.3329,0.3509,0.23,0.13,0.27,,0.023334(N),0.999(P),-2.33(D),0.0000(T),0.057,-1.264850,4.18,2.01,-0.368000,0.080000,0.127000,0.167000,0.402000,0.322000,4.0727
missense_variant,COL5A3,MISSENSE,NM_015719.3:p.Val1428Met/c.4282G>A,Gtg/Atg,MODERATE,COSM4000490(1),0.179712,0.2222,rs3815746,0.24(T),0.004(B),0.405(N),-1.0614(T),,chr19,10079093,10079093,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1428Met/c.4282G>A|1745|COL5A3|protein_coding|CODING|NM_015719.3|59|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1339,0.1383,0.2048,0.21,0.19,0.22,,0.004946(N),0.997(P),-3.25(D),0.0002(T),0.044,0.275036,3.92,1.72,-0.216000,0.861000,-0.266000,0.020000,0.994000,0.000000,6.1598
missense_variant,COL5A3,MISSENSE,NM_015719.3:p.Arg1207Pro/c.3620G>C,cGa/cCa,MODERATE,,0.483626,0.3472,rs2287813,1(T),0.0(B),-1(N),-0.9595(T),,chr19,10084292,10084292,C,G,het,missense_variant(MODERATE|MISSENSE|cGa/cCa|p.Arg1207Pro/c.3620G>C|1745|COL5A3|protein_coding|CODING|NM_015719.3|50|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4632,0.3199,0.4304,0.52,0.68,0.43,,0.000998(N),0.365(P),-2.57(D),0.0000(T),0.029,-0.254454,4.95,4.95,-0.322000,1.226000,3.938000,0.753000,0.994000,1.000000,13.5691
missense_variant,COL5A3,MISSENSE,NM_015719.3:p.Pro1125Ser/c.3373C>T,Ccc/Tcc,MODERATE,COSM4000492(1),0.145966,0.2202,rs3815745,0.62(T),0.953(D),1.075(L),-1.0247(T),,chr19,10085054,10085054,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro1125Ser/c.3373C>T|1745|COL5A3|protein_coding|CODING|NM_015719.3|46|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1227,0.1282,0.2078,0.18,0.09,0.23,,0.000105(D),0.030(P),-3.8(D),0.0010(T),0.109,4.046628,4.89,4.89,0.313000,2.246000,6.794000,0.889000,1.000000,1.000000,15.5331
missense_variant,COL5A3,MISSENSE,NM_015719.3:p.Arg1042Pro/c.3125G>C,cGg/cCg,MODERATE,,0.35024,0.3313,rs2161468,1(T),0.001(B),-0.465(N),-1.0470(T),,chr19,10088271,10088271,C,G,het,"missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg1042Pro/c.3125G>C|1745|COL5A3|protein_coding|CODING|NM_015719.3|42|1),splice_region_variant(LOW|||c.3125G>C|1745|COL5A3|protein_coding|CODING|NM_015719.3|42|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.409,0.2522,0.3946,0.39,0.36,0.40,,0.000888(N),1.000(P),-2.61(D),0.0000(T),0.083,-1.324178,4.84,2.68,-0.120000,0.256000,4.928000,0.114000,0.998000,1.000000,6.5611
synonymous_variant,COL5A3,SILENT,NM_015719.3:p.Pro1002Pro/c.3006C>T,ccC/ccT,LOW,,0.648762,0.5466,rs12610207,,,,,,chr19,10089262,10089262,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1002Pro/c.3006C>T|1745|COL5A3|protein_coding|CODING|NM_015719.3|41|1),IMR90:H3K36me3,,,,0.591,0.4798,0.5229,0.66,0.88,0.55,,,,,,,,,,,,,,,,
missense_variant,COL5A3,MISSENSE,NM_015719.3:p.Arg322Gly/c.964A>G,Agg/Ggg,MODERATE,COSM4131130(1),0.929712,0.8056,rs2287803,0.39(T),0.0(B),-0.69(N),-0.9463(T),,chr19,10112346,10112346,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg322Gly/c.964A>G|1745|COL5A3|protein_coding|CODING|NM_015719.3|8|1),splice_region_variant(LOW|||c.964A>G|1745|COL5A3|protein_coding|CODING|NM_015719.3|8|1)",IMR90:H3K36me3,,,,0.9632,0.8862,0.9821,0.98,0.98,0.97,,0.315622(N),1.000(P),-2.48(D),0.0000(T),0.014,-0.436037,4.45,2.17,-0.355000,0.100000,0.044000,0.004000,0.002000,0.008000,4.5011
missense_variant,RDH8,MISSENSE,NM_015725.2:p.Met222Thr/c.665T>C,aTg/aCg,MODERATE,COSM3756249(1),0.589657,0.5635,rs1644731,0.58(T),0.0(B),-1.59(N),-0.9421(T),,chr19,10131999,10131999,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met222Thr/c.665T>C|331|RDH8|protein_coding|CODING|NM_015725.2|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6912,0.5648,0.4563,0.51,0.62,0.45,,0.364760(N),1.000(P),-3.1(D),0.0000(T),0.023,-0.363067,5.17,-2.05,-0.355000,-0.396000,-0.457000,0.526000,0.000000,0.000000,3.2493
synonymous_variant,RDH8,SILENT,NM_015725.2:p.Leu287Leu/c.861C>T,ctC/ctT,LOW,COSM3756251(1),0.213259,0.3938,rs747574,,,,,,chr19,10132290,10132290,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu287Leu/c.861C>T|331|RDH8|protein_coding|CODING|NM_015725.2|6|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3037,0.1974,0.1451,0.13,0.09,0.15,,,,,,,,,,,,,,,,
synonymous_variant,PPAN-P2RY11,SILENT,NM_001040664.2:p.Val112Val/c.336C>G,gtC/gtG,LOW,COSM4131136(1),0.269768,0.3611,rs2305791,,,,,,chr19,10218524,10218524,C,G,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val112Val/c.336C>G|794|PPAN-P2RY11|protein_coding|CODING|NM_001040664.2|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val112Val/c.336C>G|520|PPAN-P2RY11|protein_coding|CODING|NM_001198690.1|4|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val112Val/c.336C>G|473|PPAN|protein_coding|CODING|NM_020230.5|4|1),upstream_gene_variant(MODIFIER||1901|||SNORD105B||NON_CODING|NR_003688.1||1),downstream_gene_variant(MODIFIER||113|||SNORD105||NON_CODING|NR_004381.1||1)","H1ESC:H3K36me3,K562:H3K4me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.3088,0.4135,0.3628,0.25,0.08,0.34,,,,,,,,,,,,,,,,
missense_variant,PPAN-P2RY11,MISSENSE,NM_001198690.1:p.Pro520Leu/c.1559C>T,cCc/cTc,MODERATE,COSM3756257(7),0.365415,0.3462,rs3745600,0(D),0.002(B),,-0.8955(T),,chr19,10224526,10224526,C,T,hom,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro520Leu/c.1559C>T|520|PPAN-P2RY11|protein_coding|CODING|NM_001198690.1|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala499Ala/c.1497C>T|794|PPAN-P2RY11|protein_coding|CODING|NM_001040664.2|13|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala79Ala/c.237C>T|374|P2RY11|protein_coding|CODING|NM_002566.4|2|1),downstream_gene_variant(MODIFIER||1164||320|EIF3G|protein_coding|CODING|NM_003755.3||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HepG2:DNase1,GM06990:H3K36me3,GM06990:DNase1,H1ESC:CTCF",,,,0.4438,0.5144,0.4901,0.37,0.22,0.45,,,0.000(P),1.39(T),0.0000(T),.,3.261297,4.33,-4.37,0.561000,-0.519000,-0.364000,0.283000,0.553000,0.000000,3.5462
missense_variant,PPAN-P2RY11,MISSENSE,NM_001040664.2:p.Ser747Arg/c.2241C>A,agC/agA,MODERATE,,,,rs149208332,0.36(T),0.314(B),0.805(L),-1.0717(T),,chr19,10225270,10225270,C,A,het,"missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser747Arg/c.2241C>A|794|PPAN-P2RY11|protein_coding|CODING|NM_001040664.2|13|1),missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser327Arg/c.981C>A|374|P2RY11|protein_coding|CODING|NM_002566.4|2|1),3_prime_UTR_variant(MODIFIER||740|c.*740C>A|520|PPAN-P2RY11|protein_coding|CODING|NM_001198690.1|13|1),downstream_gene_variant(MODIFIER||420||320|EIF3G|protein_coding|CODING|NM_003755.3||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Ini1,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,,,,0.00,0.00,0.00,,0.010043(U),1.000(N),"1.24,1.24,1.24(T,T,T)",0.0528(T),0.257,1.972554,3.91,3.91,0.561000,2.025000,0.755000,0.026000,0.926000,0.785000,8.8148
synonymous_variant,EIF3G,SILENT,NM_003755.3:p.Phe282Phe/c.846T>C,ttT/ttC,LOW,COSM3756258(3),0.453874,0.371,rs7710,,,,,,chr19,10226256,10226256,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe282Phe/c.846T>C|320|EIF3G|protein_coding|CODING|NM_003755.3|10|1),downstream_gene_variant(MODIFIER||192||794|PPAN-P2RY11|protein_coding|CODING|NM_001040664.2||1),downstream_gene_variant(MODIFIER||192||520|PPAN-P2RY11|protein_coding|CODING|NM_001198690.1||1),downstream_gene_variant(MODIFIER||192||374|P2RY11|protein_coding|CODING|NM_002566.4||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,GM12878:BCL3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,GM12878:POU2F2,HepG2:PolII,GM12878:ELF1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.5072,0.5303,0.494,0.44,0.40,0.45,,,,,,,,,,,,,,,,
missense_variant,DNMT1,MISSENSE,NM_001130823.1:p.Ile851Leu/c.2551A>C,Atc/Ctc,MODERATE,,,,,0.56(T),"0.001,0.001,0.002(B,B,B)",1.15(L),-0.9127(T),,chr19,10260164,10260164,T,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile851Leu/c.2551A>C|1632|DNMT1|protein_coding|CODING|NM_001130823.1|26|1),missense_variant(MODERATE|MISSENSE|Atc/Ctc|p.Ile835Leu/c.2503A>C|1616|DNMT1|protein_coding|CODING|NM_001379.2|25|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.758709(N),1.000(N),"-1.88,-1.88,-1.88(D,D,D)",0.2762(T),0.083,0.832648,5.71,-11.4,-0.912000,-1.928000,-2.006000,0.076000,0.000000,0.000000,3.7606
synonymous_variant,DNMT1,SILENT,NM_001130823.1:p.Thr594Thr/c.1782A>G,acA/acG,LOW,,0.995807,1,rs721186,,,,,,chr19,10265312,10265312,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr594Thr/c.1782A>G|1632|DNMT1|protein_coding|CODING|NM_001130823.1|21|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr578Thr/c.1734A>G|1616|DNMT1|protein_coding|CODING|NM_001379.2|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9914,0.9871,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,S1PR2,SILENT,NM_004230.3:p.Arg307Arg/c.919A>C,Agg/Cgg,LOW,COSM3749447(9),0.551917,0.3095,rs2116942,,,,,,chr19,10334663,10334663,T,G,het,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg307Arg/c.919A>C|353|S1PR2|protein_coding|CODING|NM_004230.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5389,0.4568,0.5895,0.63,0.72,0.59,,,,,,,,,,,,,,,,
synonymous_variant,S1PR2,SILENT,NM_004230.3:p.Thr278Thr/c.834C>A,acC/acA,LOW,,,,rs201888564,,,,,,chr19,10334748,10334748,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr278Thr/c.834C>A|353|S1PR2|protein_coding|CODING|NM_004230.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ICAM1,MISSENSE,NM_000201.2:p.Lys469Glu/c.1405A>G,Aag/Gag,MODERATE,,0.358826,0.2788,rs5498,1(T),"0.0,0.0(B,B)",-1.395(N),-0.9213(T),,chr19,10395683,10395683,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys469Glu/c.1405A>G|532|ICAM1|protein_coding|CODING|NM_000201.2|6|1),upstream_gene_variant(MODIFIER||1960||272|ICAM4|protein_coding|CODING|NM_001039132.2||1),upstream_gene_variant(MODIFIER||1960||271|ICAM4|protein_coding|CODING|NM_001544.4||1),upstream_gene_variant(MODIFIER||1960||237|ICAM4|protein_coding|CODING|NM_022377.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,HepG2:H3K36me3,GM06990:H3K36me3","Soluble_ICAM_1,Soluble_ICAM_1",,,0.4939,0.5548,0.4662,0.35,0.19,0.43,,0.140416(N),1.000(P),"2.72,2.72(T,T)",0.0000(T),0.013,-0.771911,4.61,-2.57,-0.244000,-0.217000,0.132000,0.001000,0.000000,0.000000,5.4083
missense_variant,ICAM5,MISSENSE,NM_003259.3:p.Val301Ile/c.901G>A,Gtc/Atc,MODERATE,COSM3742712(4),0.289537,0.2371,rs1056538,0.28(T),0.006(B),1.87(L),-0.9511(T),,chr19,10402938,10402938,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val301Ile/c.901G>A|924|ICAM5|protein_coding|CODING|NM_003259.3|4|1),"K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Gabp,IMR90:H3K36me3,NHEK:H3K27me3,K562:ELF1,K562:Egr1,HepG2:H3K4me3,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.3926,0.5202,0.4056,0.29,0.10,0.39,,0.324603(N),0.999(P),3.44(T),0.0000(T),0.07,3.265958,5.54,3.27,0.485000,1.336000,0.359000,0.884000,1.000000,0.401000,5.0439
missense_variant,ICAM5,MISSENSE,NM_003259.3:p.Ala348Thr/c.1042G>A,Gcc/Acc,MODERATE,COSM3756264(5),0.289337,0.2371,rs2228615,0.09(T),0.004(B),1.74(L),-0.9393(T),,chr19,10403368,10403368,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala348Thr/c.1042G>A|924|ICAM5|protein_coding|CODING|NM_003259.3|5|1),"H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,HUVEC:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,K562:E2F6,NHEK:H3K27me3,HSMM:H3K27me3,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,K562:DNase1",,,,0.3906,0.5202,0.4066,0.29,0.10,0.39,,0.183799(N),1.000(P),2.66(T),0.0000(T),0.023,2.082357,5.61,-0.808,0.561000,0.041000,-1.124000,0.579000,0.001000,0.000000,5.0792
synonymous_variant,ICAM5,SILENT,NM_003259.3:p.Leu884Leu/c.2652G>C,ctG/ctC,LOW,COSM3749448(7),0.510583,0.3313,rs710845,,,,,,chr19,10407169,10407169,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu884Leu/c.2652G>C|924|ICAM5|protein_coding|CODING|NM_003259.3|11|1),"K562:PolII,HUVEC:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.4407,0.6455,0.5895,0.63,0.64,0.62,,,,,,,,,,,,,,,,
missense_variant,RAVER1,MISSENSE,NM_133452.2:p.Pro482Leu/c.1445C>T,cCc/cTc,MODERATE,,,,,0.19(T),0.002(B),1.32(L),-1.0946(T),,chr19,10431803,10431803,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro482Leu/c.1445C>T|756|RAVER1|protein_coding|CODING|NM_133452.2|8|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.118718(N),1.000(D),2.65(T),0.0314(T),0.491,2.020412,4.12,4.12,0.407000,1.851000,5.208000,0.511000,0.998000,1.000000,11.8723
missense_variant,ICAM3,MISSENSE,NM_002162.3:p.Asp143Gly/c.428A>G,gAt/gGt,MODERATE,COSM3749451(5),0.179513,0.1131,rs2304237,1(T),"0.0,0.0(B,B)",-2.72(N),-0.9772(T),,chr19,10446568,10446568,T,C,het,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp143Gly/c.428A>G|547|ICAM3|protein_coding|CODING|NM_002162.3|3|1),"HepG2:H3K4me2,K562:CTCF,GM12878:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,HepG2:H3K4me3,HepG2:DNase1,GM06990:H3K36me3,H1ESC:CTCF",,,,0.2485,0.1744,0.2336,0.20,0.16,0.22,,0.003008(N),1.000(P),3.71(T),0.0000(T),0.081,-0.176746,4.98,4.98,-0.227000,1.249000,0.596000,0.003000,0.026000,0.005000,9.9304
missense_variant,ICAM3,MISSENSE,NM_002162.3:p.Arg115Gly/c.343A>G,Agg/Ggg,MODERATE,COSM1390081(2),0.178914,0.1141,rs7258015,,"0.003,0.002(B,B)",0.805(L),-1.0266(T),,chr19,10449358,10449358,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg115Gly/c.343A>G|547|ICAM3|protein_coding|CODING|NM_002162.3|2|1),splice_region_variant(LOW|||c.343A>G|547|ICAM3|protein_coding|CODING|NM_002162.3|2|1)","GM12878:H3K4me3,GM06990:H3K4me3,CD4:H3K4me1,CD4:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.2444,0.1744,0.2356,0.21,0.17,0.23,,0.719602(N),0.000(P),1.86(T),0.0000(T),0.027,1.901485,5.75,-11.5,-0.213000,-2.000000,-2.406000,0.172000,0.001000,0.022000,6.787
synonymous_variant,ICAM3,SILENT,NM_002162.3:p.Ser103Ser/c.309T>C,tcT/tcC,LOW,,0.828275,0.8254,rs2304240,,,,,,chr19,10449392,10449392,A,G,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser103Ser/c.309T>C|547|ICAM3|protein_coding|CODING|NM_002162.3|2|1),"GM12878:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,CD4:H3K4me1,CD4:H3K4me2,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.8037,0.6671,0.8231,0.86,0.91,0.83,,,,,,,,,,,,,,,,
missense_variant,TYK2,MISSENSE,NM_003331.4:p.Pro1104Ala/c.3310C>G,Ccc/Gcc,MODERATE,,0.0101837,0,rs34536443,0(D),0.979(D),2.19(M),-0.0603(T),,chr19,10463118,10463118,G,C,het,missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro1104Ala/c.3310C>G|1187|TYK2|protein_coding|CODING|NM_003331.4|23|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0202,0.0288,0.03,0.01,0.04,,0.028545(N),1.000(D),"-1.32,-1.32,-1.32,-1.6(T,T,T,D)",0.3361(T),0.478,4.511294,5.35,4.32,0.549000,1.283000,7.317000,0.888000,0.978000,1.000000,11.8328
missense_variant,TYK2,MISSENSE,NM_003331.4:p.Val362Phe/c.1084G>T,Gtc/Ttc,MODERATE,COSM3756274(1),0.265775,0.5238,rs2304256,0.05(D),"0.097,0.021(B,B)",0.895(L),-0.9153(T),,chr19,10475652,10475652,C,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val362Phe/c.1084G>T|1187|TYK2|protein_coding|CODING|NM_003331.4|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3","Type_1_diabetes_autoantibodies,Type_1_diabetes",,,0.2924,0.1945,0.2624,0.22,0.12,0.28,,0.583836(N),1.000(P),"2.93,2.93,2.93,2.93(T,T,T,T)",0.0000(T),0.186,1.260535,4.19,-0.832,-1.338000,-0.107000,-0.040000,0.007000,0.000000,0.000000,6.2456
missense_variant,PDE4A,MISSENSE,NM_001111307.1:p.Ala736Glu/c.2207C>A,gCg/gAg,MODERATE,COSM148506(1),0.188299,0.1389,rs1051738,0.44(T),"0.209,0.209,0.438,0.13(B,B,B,B)",0(N),-1.0973(T),,chr19,10577843,10577843,C,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala736Glu/c.2207C>A|886|PDE4A|protein_coding|CODING|NM_001111307.1|15|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala710Glu/c.2129C>A|860|PDE4A|protein_coding|CODING|NM_001111308.1|15|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala675Glu/c.2024C>A|825|PDE4A|protein_coding|CODING|NM_001111309.1|15|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala714Glu/c.2141C>A|864|PDE4A|protein_coding|CODING|NM_001243121.1|17|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala497Glu/c.1490C>A|647|PDE4A|protein_coding|CODING|NM_006202.2|10|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1575,0.1369,0.1521,0.21,0.29,0.18,,,1.000(P),"-0.29,-0.29,-0.31,-0.29,-0.02(T,T,T,T,T)",0.0000(T),0.058,2.081865,4.22,-4.39,-0.330000,-0.449000,-1.502000,0.003000,0.000000,0.000000,1.5445
synonymous_variant,S1PR5,SILENT,NM_001166215.1:p.Ala207Ala/c.621T>G,gcT/gcG,LOW,COSM438486(3),0.814297,0.7847,rs6511701,,,,,,chr19,10625067,10625067,A,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala207Ala/c.621T>G|398|S1PR5|protein_coding|CODING|NM_001166215.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala207Ala/c.621T>G|398|S1PR5|protein_coding|CODING|NM_030760.4|2|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:DNase1,H1ESC:CTCF",,,,0.9131,0.8386,0.8022,0.78,0.77,0.78,,,,,,,,,,,,,,,,
synonymous_variant,KRI1,SILENT,NM_023008.3:p.Phe499Phe/c.1497T>C,ttT/ttC,LOW,COSM3756284(2),0.69389,0.9395,rs3745255,,,,,,chr19,10668452,10668452,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe499Phe/c.1497T>C|709|KRI1|protein_coding|CODING|NM_023008.3|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7331,0.7968,0.67,0.60,0.45,0.67,,,,,,,,,,,,,,,,
missense_variant,KRI1,MISSENSE,NM_023008.3:p.Glu272Lys/c.814G>A,Gag/Aag,MODERATE,COSM3756287(2),0.321086,0.2411,rs3745249,0.36(T),"0.003,0.005(B,B)",0.975(L),-0.9368(T),,chr19,10670992,10670992,C,T,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu272Lys/c.814G>A|709|KRI1|protein_coding|CODING|NM_023008.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4223,0.304,0.5,0.38,0.21,0.47,,0.064861(N),1.000(P),"3.17,2.98(T,T)",0.0000(T),0.159,1.135433,5.16,1.37,-0.253000,0.585000,-0.055000,0.102000,0.898000,0.000000,9.3714
missense_variant,KRI1,MISSENSE,NM_023008.3:p.Gly144Arg/c.430G>A,Ggg/Agg,MODERATE,COSM148508(3),0.261581,0.2034,rs12984043,0.41(T),"0.005,0.005(B,B)",1.845(L),-0.9317(T),,chr19,10672493,10672493,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly144Arg/c.430G>A|709|KRI1|protein_coding|CODING|NM_023008.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3517,0.2522,0.4036,0.31,0.17,0.38,,0.050931(N),0.988(P),"1.47,1.47,1.47(T,T,T)",0.0000(T),0.258,0.518267,4.05,1.67,-0.521000,0.888000,3.193000,0.042000,0.384000,0.956000,8.1253
synonymous_variant,KRI1,SILENT,NM_023008.3:p.Ser52Ser/c.156C>T,agC/agT,LOW,COSM1563971(1),0.60603,0.3472,rs3745245,,,,,,chr19,10676423,10676423,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser52Ser/c.156C>T|709|KRI1|protein_coding|CODING|NM_023008.3|2|1),downstream_gene_variant(MODIFIER||715||166|CDKN2D|protein_coding|CODING|NM_001800.3||1),downstream_gene_variant(MODIFIER||715||166|CDKN2D|protein_coding|CODING|NM_079421.2||1)","H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.6002,0.4726,0.7773,0.75,0.75,0.75,,,,,,,,,,,,,,,,
missense_variant,KRI1,MISSENSE,NM_023008.3:p.Thr5Ala/c.13A>G,Acc/Gcc,MODERATE,COSM3749454(2),0.604233,0.3353,rs3218222,,0.0(B),-1.79(N),-1.0591(T),,chr19,10676681,10676681,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr5Ala/c.13A>G|709|KRI1|protein_coding|CODING|NM_023008.3|1|1),downstream_gene_variant(MODIFIER||457||166|CDKN2D|protein_coding|CODING|NM_001800.3||1),downstream_gene_variant(MODIFIER||457||166|CDKN2D|protein_coding|CODING|NM_079421.2||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,CD4:CBP,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,H1ESC:H3K27ac,HUVEC:CTCF,CD4:HDAC3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:Cmyc,HMEC:CTCF,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:CTCF,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HeLa-S3:Nrf1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.6022,0.4741,0.7773,0.80,0.81,0.80,,0.686893(N),0.995(P),3.42(T),0.0000(T),0.179,-1.242595,4.38,3.34,-0.338000,0.486000,0.892000,0.165000,0.067000,0.010000,6.3743
synonymous_variant,CDKN2D,SILENT,NM_079421.2:p.Arg30Arg/c.90G>C,cgG/cgC,LOW,COSM3749455(10),0.972444,0.997,rs1968445,,,,,,chr19,10679240,10679240,C,G,hom,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg30Arg/c.90G>C|166|CDKN2D|protein_coding|CODING|NM_079421.2|2|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg30Arg/c.90G>C|166|CDKN2D|protein_coding|CODING|NM_001800.3|1|1)","K562:ZBTB7A,NHEK:CTCF,K562:Max,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,GM12878:ZEB1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,,,0.9407,0.9582,0.9543,0.97,0.99,0.95,,,,,,,,,,,,,,,,
synonymous_variant,SLC44A2,SILENT,NM_020428.3:p.Asp68Asp/c.204C>T,gaC/gaT,LOW,,0.786542,0.7103,rs3087969,,,,,,chr19,10738639,10738639,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp66Asp/c.198C>T|704|SLC44A2|protein_coding|CODING|NM_001145056.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp68Asp/c.204C>T|706|SLC44A2|protein_coding|CODING|NM_020428.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7505,0.8415,0.7644,0.80,0.84,0.79,,,,,,,,,,,,,,,,
missense_variant,SLC44A2,MISSENSE,NM_020428.3:p.Gln154Arg/c.461A>G,cAa/cGa,MODERATE,COSM3736189(1),0.817292,0.7103,rs2288904,1(T),"0.0,0.001(B,B)",-1.15(N),-0.9835(T),,chr19,10742170,10742170,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln152Arg/c.455A>G|704|SLC44A2|protein_coding|CODING|NM_001145056.1|7|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln154Arg/c.461A>G|706|SLC44A2|protein_coding|CODING|NM_020428.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7546,0.8516,0.7644,0.84,0.93,0.79,,0.070244(N),1.000(P),"2.98,2.98(T,T)",0.0000(T),0.005,-0.550850,4.87,4.87,-0.366000,1.320000,0.874000,0.778000,0.152000,0.004000,9.472
synonymous_variant,SMARCA4,SILENT,NM_001128849.1:p.His508His/c.1524T>C,caT/caC,LOW,COSM4131184(2),0.311502,0.2639,rs7935,,,,,,chr19,11105608,11105608,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His508His/c.1524T>C|1647|SMARCA4|protein_coding|CODING|NM_001128844.1|10|1),synonymous_variant(LOW|SILENT|caT/caC|p.His508His/c.1524T>C|1617|SMARCA4|protein_coding|CODING|NM_001128845.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His508His/c.1524T>C|1616|SMARCA4|protein_coding|CODING|NM_001128846.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His508His/c.1524T>C|1614|SMARCA4|protein_coding|CODING|NM_001128847.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His508His/c.1524T>C|1613|SMARCA4|protein_coding|CODING|NM_001128848.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His508His/c.1524T>C|1679|SMARCA4|protein_coding|CODING|NM_001128849.1|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His508His/c.1524T>C|1647|SMARCA4|protein_coding|CODING|NM_003072.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000114302.1,,0.3896,0.2133,0.3519,0.33,0.30,0.34,,,,,,,,,,,,,,,,
synonymous_variant,SMARCA4,SILENT,NM_001128849.1:p.Asp1661Asp/c.4983T>C,gaT/gaC,LOW,COSM1390290(4),0.2498,0.0724,rs7275,,,,,,chr19,11170839,11170839,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1629Asp/c.4887T>C|1647|SMARCA4|protein_coding|CODING|NM_001128844.1|35|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1599Asp/c.4797T>C|1617|SMARCA4|protein_coding|CODING|NM_001128845.1|32|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1598Asp/c.4794T>C|1616|SMARCA4|protein_coding|CODING|NM_001128846.1|32|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1596Asp/c.4788T>C|1614|SMARCA4|protein_coding|CODING|NM_001128847.1|32|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1595Asp/c.4785T>C|1613|SMARCA4|protein_coding|CODING|NM_001128848.1|32|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1661Asp/c.4983T>C|1679|SMARCA4|protein_coding|CODING|NM_001128849.1|35|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1629Asp/c.4887T>C|1647|SMARCA4|protein_coding|CODING|NM_003072.3|34|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000114308.1,,0.362,0.1715,0.2942,0.26,0.27,0.26,,,,,,,,,,,,,,,,
synonymous_variant,LDLR,SILENT,NM_000527.4:p.Arg471Arg/c.1413A>G,agA/agG,LOW,COSM438527(1),0.654952,0.5952,rs5930,,,,,,chr19,11224265,11224265,A,G,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg471Arg/c.1413A>G|860|LDLR|protein_coding|CODING|NM_000527.4|10|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg471Arg/c.1413A>G|858|LDLR|protein_coding|CODING|NM_001195798.1|10|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg430Arg/c.1290A>G|819|LDLR|protein_coding|CODING|NM_001195799.1|9|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg303Arg/c.909A>G|692|LDLR|protein_coding|CODING|NM_001195800.1|8|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg344Arg/c.1032A>G|682|LDLR|protein_coding|CODING|NM_001195803.1|9|1),downstream_gene_variant(MODIFIER||55|||MIR6886||NON_CODING|NR_106946.1||1)","H1ESC:H3K36me3,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.6237,0.7147,0.5785,0.66,0.74,0.62,,,,,,,,,,,,,,,,
synonymous_variant,LDLR,SILENT,NM_000527.4:p.Leu575Leu/c.1725C>T,ctC/ctT,LOW,,0.0888578,0.003,rs1799898,,,,,,chr19,11227554,11227554,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu575Leu/c.1725C>T|860|LDLR|protein_coding|CODING|NM_000527.4|12|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu575Leu/c.1725C>T|858|LDLR|protein_coding|CODING|NM_001195798.1|12|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu534Leu/c.1602C>T|819|LDLR|protein_coding|CODING|NM_001195799.1|11|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu407Leu/c.1221C>T|692|LDLR|protein_coding|CODING|NM_001195800.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu448Leu/c.1344C>T|682|LDLR|protein_coding|CODING|NM_001195803.1|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1309,0.072,0.159,0.11,0.08,0.12,,,,,,,,,,,,,,,,
synonymous_variant,LDLR,SILENT,NM_000527.4:p.Asn591Asn/c.1773C>T,aaC/aaT,LOW,,0.275759,0.1835,rs688,,,,,,chr19,11227602,11227602,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn591Asn/c.1773C>T|860|LDLR|protein_coding|CODING|NM_000527.4|12|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn591Asn/c.1773C>T|858|LDLR|protein_coding|CODING|NM_001195798.1|12|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn550Asn/c.1650C>T|819|LDLR|protein_coding|CODING|NM_001195799.1|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn423Asn/c.1269C>T|692|LDLR|protein_coding|CODING|NM_001195800.1|10|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn464Asn/c.1392C>T|682|LDLR|protein_coding|CODING|NM_001195803.1|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.3845,0.4582,0.4414,0.34,0.11,0.45,,,,,,,,,,,,,,,,
synonymous_variant,LDLR,SILENT,NM_000527.4:p.Val653Val/c.1959T>C,gtT/gtC,LOW,,0.335863,0.2163,rs5925,,,,,,chr19,11230881,11230881,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val653Val/c.1959T>C|860|LDLR|protein_coding|CODING|NM_000527.4|13|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val653Val/c.1959T>C|858|LDLR|protein_coding|CODING|NM_001195798.1|13|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val612Val/c.1836T>C|819|LDLR|protein_coding|CODING|NM_001195799.1|12|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val485Val/c.1455T>C|692|LDLR|protein_coding|CODING|NM_001195800.1|11|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val526Val/c.1578T>C|682|LDLR|protein_coding|CODING|NM_001195803.1|12|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4509,0.5418,0.4463,0.37,0.20,0.45,,,,,,,,,,,,,,,,
synonymous_variant,LDLR,SILENT,NM_000527.4:p.Arg744Arg/c.2232A>G,cgA/cgG,LOW,COSM4131191(1),0.780152,0.9554,rs5927,,,,,,chr19,11233941,11233941,A,G,het,"synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg744Arg/c.2232A>G|860|LDLR|protein_coding|CODING|NM_000527.4|15|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg744Arg/c.2232A>G|858|LDLR|protein_coding|CODING|NM_001195798.1|15|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg703Arg/c.2109A>G|819|LDLR|protein_coding|CODING|NM_001195799.1|14|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg576Arg/c.1728A>G|692|LDLR|protein_coding|CODING|NM_001195800.1|13|1),synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg566Arg/c.1698A>G|682|LDLR|protein_coding|CODING|NM_001195803.1|13|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7761,0.853,0.7256,0.74,0.69,0.77,,,,,,,,,,,,,,,,
synonymous_variant,DOCK6,SILENT,NM_020812.3:p.Asn1653Asn/c.4959C>T,aaC/aaT,LOW,COSM3756300(1),0.441693,0.4633,rs8409,,,,,,chr19,11319491,11319491,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn1653Asn/c.4959C>T|2047|DOCK6|protein_coding|CODING|NM_020812.3|39|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:DNase1,GM12878:ZEB1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.4693,0.4741,0.6044,0.49,0.30,0.59,,,,,,,,,,,,,,,,
missense_variant,DOCK6,MISSENSE,NM_020812.3:p.Ala1442Thr/c.4324G>A,Gcc/Acc,MODERATE,,0.0327476,0,rs34243815,0.01(D),"0.792,0.04(P,B)",1.92(M),-0.9554(T),,chr19,11324965,11324965,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala1442Thr/c.4324G>A|2047|DOCK6|protein_coding|CODING|NM_020812.3|34|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0542,0.0504,0.0736,0.05,0.01,0.07,,0.000007(D),1.000(D),"0.57,0.57(T,T)",0.0294(T),0.189,4.837057,5.71,3.49,0.655000,0.687000,3.931000,0.978000,1.000000,1.000000,13.8006
synonymous_variant,DOCK6,SILENT,NM_020812.3:p.Asn1350Asn/c.4050T>C,aaT/aaC,LOW,COSM3756301(1),0.500799,0.5119,rs2304155,,,,,,chr19,11326119,11326119,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1350Asn/c.4050T>C|2047|DOCK6|protein_coding|CODING|NM_020812.3|32|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4734,0.5101,0.6292,0.58,0.47,0.63,,,,,,,,,,,,,,,,
synonymous_variant,DOCK6,SILENT,NM_020812.3:p.Pro1348Pro/c.4044G>A,ccG/ccA,LOW,COSM3756302(1),0.452676,0.5109,rs2304154,,,,,,chr19,11326125,11326125,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1348Pro/c.4044G>A|2047|DOCK6|protein_coding|CODING|NM_020812.3|32|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4734,0.4899,0.6272,0.53,0.33,0.62,,,,,,,,,,,,,,,,
synonymous_variant,DOCK6,SILENT,NM_020812.3:p.Leu1292Leu/c.3876A>G,ctA/ctG,LOW,,0.59345,0.5794,rs4804151,,,,,,chr19,11327608,11327608,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1292Leu/c.3876A>G|2047|DOCK6|protein_coding|CODING|NM_020812.3|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.546,0.5663,0.6789,0.68,0.64,0.70,,,,,,,,,,,,,,,,
synonymous_variant,DOCK6,SILENT,NM_020812.3:p.Asp1286Asp/c.3858T>C,gaT/gaC,LOW,,0.579473,0.5784,rs4804152,,,,,,chr19,11327626,11327626,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1286Asp/c.3858T>C|2047|DOCK6|protein_coding|CODING|NM_020812.3|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.544,0.5634,0.6779,0.66,0.59,0.70,,,,,,,,,,,,,,,,
synonymous_variant,DOCK6,SILENT,NM_020812.3:p.Leu1169Leu/c.3507A>T,ctA/ctT,LOW,COSM3756303(1),0.313498,0.2986,rs3810307,,,,,,chr19,11332570,11332570,T,A,het,synonymous_variant(LOW|SILENT|ctA/ctT|p.Leu1169Leu/c.3507A>T|2047|DOCK6|protein_coding|CODING|NM_020812.3|28|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2127,0.2579,0.1431,0.29,0.48,0.19,,,,,,,,,,,,,,,,
synonymous_variant,DOCK6,SILENT,NM_020812.3:p.Thr712Thr/c.2136A>G,acA/acG,LOW,COSM3937834(1),0.248403,0.2401,rs737337,,,,,,chr19,11347493,11347493,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr712Thr/c.2136A>G|2047|DOCK6|protein_coding|CODING|NM_020812.3|19|1),"HepG2:RXRA,H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K36me3,HepG2:HDAC2,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,HepG2:HNF4A,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:TAF1,HepG2:DNase1,GM06990:H3K36me3",HDL_cholesterol,,,0.1483,0.1974,0.0736,0.17,0.35,0.07,,,,,,,,,,,,,,,,
missense_variant,DOCK6,MISSENSE,NM_020812.3:p.Pro250Leu/c.749C>T,cCa/cTa,MODERATE,COSM3756307(1),0.519569,0.5367,rs12978266,0.01(D),0.839(P),2.175(M),-1.0521(T),,chr19,11358799,11358799,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro250Leu/c.749C>T|2047|DOCK6|protein_coding|CODING|NM_020812.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7454,0.634,0.7316,0.55,0.24,0.70,,0.000069(D),0.000(P),2.35(T),0.0000(T),0.324,3.479027,5.05,5.05,0.462000,2.343000,7.197000,0.409000,0.070000,1.000000,15.9008
missense_variant,CCDC159,MISSENSE,NM_001080503.2:p.Cys278Ser/c.833G>C,tGt/tCt,MODERATE,COSM3756308(1),0.376597,0.2788,rs6887,0.77(T),"0.0,0.0(B,B)",-1.5(N),-0.9139(T),,chr19,11465316,11465316,G,C,het,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys278Ser/c.833G>C|297|CCDC159|protein_coding|CODING|NM_001080503.2|10|1),upstream_gene_variant(MODIFIER||746||427|LPPR2|protein_coding|CODING|NM_001170635.1||1),upstream_gene_variant(MODIFIER||746||343|LPPR2|protein_coding|CODING|NM_022737.2||1)",H1ESC:CTCF,,,,0.3047,0.3718,0.4533,0.46,0.44,0.47,,,1.000(P),1.08(T),0.0000(T),0.014,-0.949288,4.13,0.299,-0.322000,0.121000,-0.055000,0.069000,0.000000,0.001000,8.6764
missense_variant,EPOR,MISSENSE,NM_000121.3:p.Ala99Val/c.296C>T,gCt/gTt,MODERATE,,0.000798722,0,rs146235694,0.51(T),0.002(B),0.895(L),-1.0548(T),,chr19,11492737,11492737,G,A,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala99Val/c.296C>T|508|EPOR|protein_coding|CODING|NM_000121.3|3|1),non_coding_exon_variant(MODIFIER|||n.681C>T||EPOR||CODING|NR_033663.1|3|1)","NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,GM12878:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K27ac,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,HeLa-S3:PolII,NHEK:H3K27me3,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,CD4:CTCF,HepG2:CTCF,HeLa-S3:Ap2gamma,CD4:H3K4ac,NHEK:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF,GM12878:H2AZ,HeLa-S3:E2F6,GM06990:CTCF",,,,0,0.0029,0.002,0.00,0.00,0.00,,0.017512(N),1.000(N),-0.37(T),0.1270(T),0.052,2.900841,3.65,-0.141,0.305000,0.321000,0.576000,0.658000,0.439000,0.000000,4.9626
missense_variant,RGL3,MISSENSE,NM_001161616.2:p.Ala164Val/c.491C>T,gCc/gTc,MODERATE,COSM4131203(1),0.639177,0.6766,rs160838,0.32(T),"0.065,0.184(B,B)",0.97(L),-0.9461(T),,chr19,11526759,11526759,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala164Val/c.491C>T|710|RGL3|protein_coding|CODING|NM_001035223.3|5|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala164Val/c.491C>T|716|RGL3|protein_coding|CODING|NM_001161616.2|5|1)","H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.5348,0.719,0.6014,0.61,0.67,0.58,,0.741875(N),0.987(P),"0.7,0.7(T,T)",0.0000(T),0.3,1.901814,4.88,2.56,0.511000,0.979000,2.116000,0.647000,0.963000,0.983000,8.1218
missense_variant,CCDC151,MISSENSE,NM_145045.4:p.Pro50Ser/c.148C>T,Cca/Tca,MODERATE,,0.00259585,0,rs143295007,0.73(T),"0.008,0.003(B,B)",0.145(N),-0.9264(T),,chr19,11545690,11545690,G,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro50Ser/c.148C>T|595|CCDC151|protein_coding|CODING|NM_145045.4|1|1),upstream_gene_variant(MODIFIER||388||525|PRKCSH|protein_coding|CODING|NM_001001329.2||1),upstream_gene_variant(MODIFIER||388||535|PRKCSH|protein_coding|CODING|NM_001289103.1||1),upstream_gene_variant(MODIFIER||388||535|PRKCSH|protein_coding|CODING|NM_001289104.1||1),upstream_gene_variant(MODIFIER||776||528|PRKCSH|protein_coding|CODING|NM_002743.3||1),upstream_gene_variant(MODIFIER||871||525|PRKCSH|protein_coding|CODING|NM_001289102.1||1)","NHEK:CTCF,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,IMR90:H4K5ac,IMR90:H3K4me2,HUVEC:CTCF,HeLa-S3:H3K4me2,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ",,,,0,0.0058,0.008,0.00,0.00,0.00,,0.174920(N),1.000(N),2.9(T),0.0082(T),0.073,1.263504,4.54,-2.55,0.655000,-0.084000,-0.152000,0.001000,0.000000,0.001000,9.2378
missense_variant,PRKCSH,MISSENSE,NM_001289103.1:p.Ala291Thr/c.871G>A,Gca/Aca,MODERATE,,0.091254,0.0248,rs11557488,0.62(T),"0.036,0.012,0.002(B,B,B)",1.245(L),-1.0925(T),,chr19,11558275,11558275,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala291Thr/c.871G>A|528|PRKCSH|protein_coding|CODING|NM_002743.3|11|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala291Thr/c.871G>A|525|PRKCSH|protein_coding|CODING|NM_001001329.2|11|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala291Thr/c.871G>A|525|PRKCSH|protein_coding|CODING|NM_001289102.1|10|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala291Thr/c.871G>A|535|PRKCSH|protein_coding|CODING|NM_001289103.1|11|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala291Thr/c.871G>A|535|PRKCSH|protein_coding|CODING|NM_001289104.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000080027.1,,0.09,0.1182,0.2256,0.16,0.06,0.22,,0.765357(N),1.000(P),"-0.65,-0.66(T,T)",0.0000(T),0.058,1.867674,3.67,1.41,0.491000,0.480000,1.332000,0.140000,0.000000,0.004000,7.7873
synonymous_variant,ZNF653,SILENT,NM_138783.3:p.Ser234Ser/c.702C>T,agC/agT,LOW,COSM438567(1),0.00259585,0,rs142199640,,,,,,chr19,11598576,11598576,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser234Ser/c.702C>T|615|ZNF653|protein_coding|CODING|NM_138783.3|4|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.0099,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,ZNF441,MISSENSE,NM_152355.2:p.Val122Ile/c.364G>A,Gtt/Att,MODERATE,COSM3756311(1),0.89377,0.9514,rs799193,0.08(T),0.0(B),-0.235(N),-1.0844(T),,chr19,11891003,11891003,G,A,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val122Ile/c.364G>A|693|ZNF441|protein_coding|CODING|NM_152355.2|4|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.864,0.8588,0.7903,0.84,0.95,0.79,,,1.000(P),"3.52,3.43(T,T)",0.0000(T),0.011,-0.652644,1.22,0.166,-0.893000,-0.474000,-0.300000,0.034000,0.000000,0.000000,4.2697
missense_variant,ZNF440,MISSENSE,NM_152357.2:p.Ser569Asn/c.1706G>A,aGc/aAc,MODERATE,,0.973642,1,rs400106,0.75(T),0.0(B),-1.515(N),-1.0507(T),,chr19,11943697,11943697,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser569Asn/c.1706G>A|595|ZNF440|protein_coding|CODING|NM_152357.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,K562:SETDB1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9755,0.9438,0.9364,0.95,0.99,0.93,,,1.000(P),3.65(T),0.0000(T),0.005,-1.797993,0.616,-0.702,-1.140000,-1.205000,-1.593000,0.008000,0.025000,0.000000,5.6875
synonymous_variant,ZNF844,SILENT,NM_001136501.1:p.Asn562Asn/c.1686T>C,aaT/aaC,LOW,,0.00379393,0,rs79709447,,,,,,chr19,12187621,12187621,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn562Asn/c.1686T>C|666|ZNF844|protein_coding|CODING|NM_001136501.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0031,0.0072,0.0109,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ZNF625,SILENT,NM_145233.3:p.Arg291Arg/c.873A>C,cgA/cgC,LOW,COSM4131210(1),0.39996,0.6369,rs12972621,,,,,,chr19,12256358,12256358,T,G,hom,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg291Arg/c.873A>C|372|ZNF625|protein_coding|CODING|NM_145233.3|4|1),intron_variant(MODIFIER|||n.364+1852A>C||ZNF625-ZNF20||NON_CODING|NR_037802.1|3|1),non_coding_exon_variant(MODIFIER|||n.1042A>C||ZNF625||CODING|NR_037801.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6115,0.3862,0.4533,0.34,0.10,0.47,,,,,,,,,,,,,,,,
missense_variant,ZNF799,MISSENSE,NM_001080821.2:p.Leu252Pro/c.755T>C,cTg/cCg,MODERATE,,0.71845,0.4623,rs4804669,1(T),0.0(B),-1.705(N),-1.0302(T),,chr19,12502457,12502457,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu252Pro/c.755T>C|643|ZNF799|protein_coding|CODING|NM_001080821.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5634,0.7277,0.7704,0.84,0.96,0.78,,,0.942(P),"2.85,2.85(T,T)",0.0000(T),0.031,-1.980229,1.31,1.31,-0.471000,0.125000,-0.834000,0.095000,0.001000,0.000000,5.8445
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Pro591Gln/c.1772C>A,cCa/cAa,MODERATE,COSM4000515(2),0.391174,0.3462,rs7256321,0.21(T),0.0(B),0(N),-0.9516(T),,chr19,12541214,12541214,G,T,het,missense_variant(MODERATE|MISSENSE|cCa/cAa|p.Pro591Gln/c.1772C>A|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4928,0.3098,0.2793,0.34,0.44,0.29,,,1.000(P),3.22(T),0.0000(T),0.049,-0.206168,1.26,0.0802,-0.533000,-0.519000,-1.848000,0.062000,0.000000,0.000000,3.8843
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Cys485Phe/c.1454G>T,tGt/tTt,MODERATE,COSM4000516(2),0.650958,0.4534,rs10422063,1(T),0.0(B),-2.62(N),-1.0068(T),,chr19,12541532,12541532,C,A,hom,missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys485Phe/c.1454G>T|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.68,0.7291,0.7753,0.74,0.66,0.79,,,1.000(P),3.26(T),0.0000(T),0.151,-2.894408,1.33,-1.46,-0.533000,-1.243000,0.057000,0.031000,0.000000,0.000000,5.2878
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Gly482Arg/c.1444G>A,Ggg/Agg,MODERATE,COSM3756324(2),0.390974,0.3462,rs34507016,0.01(D),1.0(D),2.72(M),-0.9610(T),,chr19,12541542,12541542,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly482Arg/c.1444G>A|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4928,0.3084,0.2793,0.27,0.38,0.22,,,1.000(P),3.02(T),0.0000(T),0.04,2.131227,1.26,0.171,-0.359000,0.122000,0.709000,0.010000,0.021000,0.931000,7.0991
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Leu481Arg/c.1442T>G,cTt/cGt,MODERATE,COSM3756325(2),0.391174,0.3462,rs35055629,0.02(D),0.0(B),0.76(N),-0.9322(T),,chr19,12541544,12541544,A,C,het,missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu481Arg/c.1442T>G|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4928,0.3084,0.2793,0.27,0.38,0.22,,,1.000(P),2.04(T),0.0000(T),0.078,0.640038,1.26,1.26,-0.363000,0.121000,1.653000,0.009000,0.019000,0.947000,7.9492
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Lys480Thr/c.1439A>C,aAa/aCa,MODERATE,,0.261182,0.1071,rs10402252,0.02(D),0.93(D),0.275(N),-0.9293(T),,chr19,12541547,12541547,T,G,het,missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys480Thr/c.1439A>C|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1871,0.4207,0.496,0.41,0.22,0.50,,,1.000(P),2.16(T),0.0000(T),0.095,1.558917,1.26,1.26,0.378000,0.841000,-1.386000,0.031000,0.004000,0.000000,4.2601
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Gln397His/c.1191G>T,caG/caT,MODERATE,,0.390974,0.3462,rs35699767,0.02(D),0.225(B),0.93(L),-0.9175(T),,chr19,12541795,12541795,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln397His/c.1191G>T|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4928,0.3084,0.2793,0.34,0.44,0.29,,,1.000(P),3.18(T),0.0000(T),0.03,1.033143,1.37,-2.74,-0.384000,-1.130000,-3.155000,0.086000,0.007000,0.000000,2.7523
synonymous_variant,ZNF443,SILENT,NM_005815.4:p.Leu211Leu/c.631T>C,Tta/Cta,LOW,COSM3756327(3),0.391374,0.3462,rs4804183,,,,,,chr19,12542355,12542355,A,G,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu211Leu/c.631T>C|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4928,0.3084,0.2793,0.34,0.44,0.29,,,,,,,,,,,,,,,,
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Lys111Asn/c.333A>C,aaA/aaC,MODERATE,COSM3756328(3),0.390176,0.3452,rs4239550,0.18(T),0.004(B),0.17(N),-0.9342(T),,chr19,12542653,12542653,T,G,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys111Asn/c.333A>C|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4908,0.3084,0.2793,0.34,0.44,0.28,,,1.000(P),3.13(T),0.0000(T),0.041,-0.646905,1.19,-0.0065,-0.363000,-0.356000,-0.345000,0.000000,0.000000,0.000000,3.8601
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Lys111Ile/c.332A>T,aAa/aTa,MODERATE,COSM3756329(3),0.390176,0.3452,rs28599549,0.23(T),0.0(B),-0.775(N),-0.9401(T),,chr19,12542654,12542654,T,A,het,missense_variant(MODERATE|MISSENSE|aAa/aTa|p.Lys111Ile/c.332A>T|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4908,0.3084,0.2793,0.34,0.44,0.28,,,1.000(P),3.1(T),0.0000(T),0.083,-0.175794,1.19,-1.34,-1.921000,-1.214000,-2.061000,0.000000,0.000000,0.000000,0.462
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Val72Ile/c.214G>A,Gtt/Att,MODERATE,,0.261182,0.1071,rs1134389,0.41(T),0.04(B),0.145(N),-0.9682(T),,chr19,12542772,12542772,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val72Ile/c.214G>A|671|ZNF443|protein_coding|CODING|NM_005815.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1871,0.4207,0.496,,,,,,1.000(P),3.2(T),0.0000(T),0.047,-0.632838,1.37,0.266,-0.534000,0.039000,-0.193000,0.002000,0.000000,0.000000,5.5758
missense_variant,ZNF443,MISSENSE,NM_005815.4:p.Val44Gly/c.131T>G,gTa/gGa,MODERATE,COSM4000518(2),,,rs138584869,1(T),0.0(B),-0.695(N),-0.9678(T),,chr19,12543251,12543251,A,C,het,"missense_variant(MODERATE|MISSENSE|gTa/gGa|p.Val44Gly/c.131T>G|671|ZNF443|protein_coding|CODING|NM_005815.4|3|1),splice_region_variant(LOW|||c.131T>G|671|ZNF443|protein_coding|CODING|NM_005815.4|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),6.22(T),0.0000(T),0.167,-2.412185,1.03,1.03,-0.464000,0.052000,-0.048000,0.118000,0.006000,0.001000,4.4736
synonymous_variant,ZNF709,SILENT,NM_152601.3:p.Cys229Cys/c.687C>T,tgC/tgT,LOW,,0.285942,0.1171,rs7259240,,,,,,chr19,12576049,12576049,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys229Cys/c.687C>T|641|ZNF709|protein_coding|CODING|NM_152601.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2147,0.428,0.496,0.42,0.27,0.50,,,,,,,,,,,,,,,,
synonymous_variant,ZNF490,SILENT,NM_020714.2:p.His296His/c.888C>T,caC/caT,LOW,COSM3756331(1),0.20627,0.0536,rs3745651,,,,,,chr19,12692001,12692001,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His296His/c.888C>T|529|ZNF490|protein_coding|CODING|NM_020714.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2127,0.2983,0.5099,0.37,0.10,0.51,,,,,,,,,,,,,,,,
missense_variant,MAN2B1,MISSENSE,NM_000528.3:p.Asn413Ser/c.1238A>G,aAc/aGc,MODERATE,COSM438614(1),0.0385383,0,rs35836657,0.01(D),"0.035,0.04(B,B)",1.935(M),-0.9468(T),,chr19,12768948,12768948,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn413Ser/c.1238A>G|1011|MAN2B1|protein_coding|CODING|NM_000528.3|10|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn412Ser/c.1235A>G|1010|MAN2B1|protein_coding|CODING|NM_001173498.1|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,RCV000117592.2,,0.0112,0.0591,0.1342,0.09,0.02,0.12,,0.301860(N),0.002(P),"-0.86,-0.86(T,T)",0.0053(T),0.019,2.635090,4.95,2.86,0.254000,0.259000,2.060000,0.955000,1.000000,1.000000,7.6038
synonymous_variant,MAST1,SILENT,NM_014975.2:p.Phe200Phe/c.600T>C,ttT/ttC,LOW,COSM438635(3),0.502396,0.621,rs2290688,,,,,,chr19,12958697,12958697,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe200Phe/c.600T>C|1570|MAST1|protein_coding|CODING|NM_014975.2|7|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,K562:PolII,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H3K4me2,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HMEC:H3K4me2,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,K562:CTCFL,K562:Junb,HMEC:CTCF,K562:E2F6,NHEK:H3K27me3,NH-A:CTCF,HeLa-S3:Ap2alpha,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0.4877,0.3473,0.2893,0.39,0.62,0.27,,,,,,,,,,,,,,,,
synonymous_variant,MAST1,SILENT,NM_014975.2:p.Ser1535Ser/c.4605A>G,tcA/tcG,LOW,COSM438650(3),0.4373,0.6181,rs11085822,,,,,,chr19,12985576,12985576,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1535Ser/c.4605A>G|1570|MAST1|protein_coding|CODING|NM_014975.2|26|1),downstream_gene_variant(MODIFIER||449||360|DNASE2|protein_coding|CODING|NM_001375.2||1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:Junb,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4826,0.3357,0.2913,0.32,0.41,0.27,,,,,,,,,,,,,,,,
synonymous_variant,DNASE2,SILENT,NM_001375.2:p.Ser145Ser/c.435C>T,agC/agT,LOW,COSM1179780(1),0.370807,0.6181,rs2293682,,,,,,chr19,12989560,12989560,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser145Ser/c.435C>T|360|DNASE2|protein_coding|CODING|NM_001375.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:Junb,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4775,0.2853,0.2435,0.24,0.26,0.23,,,,,,,,,,,,,,,,
missense_variant,KLF1,MISSENSE,NM_006563.3:p.Ser102Pro/c.304T>C,Tcc/Ccc,MODERATE,COSM3749462(9),0.444289,0.6111,rs2072597,0.24(T),0.0(B),0(N),-1.0237(T),,chr19,12996740,12996740,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser102Pro/c.304T>C|362|KLF1|protein_coding|CODING|NM_006563.3|2|1),"K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,HUVEC:H3K27me3,K562:H3K27ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,K562:E2F6,K562:H3K9ac,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,K562:H3K79me2,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1",,,,0.4806,0.3415,0.3181,0.27,0.34,0.24,,0.403234(N),1.000(P),2.98(T),0.0000(T),0.01,-1.917946,3.53,-2.89,-1.642000,-0.775000,-1.589000,0.026000,0.000000,0.000000,3.9258
missense_variant,GCDH,MISSENSE,NM_013976.3:p.Gln417Arg/c.1250A>G,cAg/cGg,MODERATE,,0.720447,0.7768,rs8012,0.03(D),0.0(B),,-0.9425(T),,chr19,13010520,13010520,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln417Arg/c.1250A>G|428|GCDH|protein_coding|CODING|NM_013976.3|12|1),3_prime_UTR_variant(MODIFIER||165|c.*165A>G|438|GCDH|protein_coding|CODING|NM_000159.3|12|1),intron_variant(MODIFIER|||c.612+298T>C|218|SYCE2|protein_coding|CODING|NM_001105578.1|5|1),non_coding_exon_variant(MODIFIER|||n.1645A>G||GCDH||CODING|NR_102316.1|12|1),non_coding_exon_variant(MODIFIER|||n.1863A>G||GCDH||CODING|NR_102317.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6984,0.6988,0.5219,0.64,0.82,0.55,,,1.000(P),-4.39(D),0.0000(T),0.015,-0.860606,4.81,-1.41,-4.229000,-0.796000,0.326000,0.006000,0.000000,0.000000,6.9724
synonymous_variant,LYL1,SILENT,NM_005583.4:p.Arg55Arg/c.165G>A,agG/agA,LOW,COSM3756356(1),0.014377,0,rs151073349,,,,,,chr19,13211821,13211821,C,T,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg55Arg/c.165G>A|280|LYL1|protein_coding|CODING|NM_005583.4|2|1),"K562:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K79me2",,,,0.0031,0.0173,0.0368,0.03,0.02,0.04,,,,,,,,,,,,,,,,
missense_variant,IER2,MISSENSE,NM_004907.2:p.Ala133Val/c.398C>T,gCt/gTt,MODERATE,,0.0702875,0.0129,rs1042164,0.1(T),0.005(B),0.695(N),-0.9670(T),,chr19,13264398,13264398,C,T,het,missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala133Val/c.398C>T|223|IER2|protein_coding|CODING|NM_004907.2|2|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,CD4:H3K4me3,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:CTCF,HeLa-S3:Ini1,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,H1ESC:TAF7,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,GM12878:Sin3Ak20",,,,0.0654,0.1124,0.175,0.12,0.04,0.17,,0.097097(N),1.000(P),2.89(T),0.0000(T),0.009,2.050513,4.18,0.597,-0.379000,-0.084000,1.510000,0.564000,0.001000,0.013000,5.1108
missense_variant,CACNA1A,MISSENSE,NM_023035.2:p.Ala2284Thr/c.6850G>A,Gcg/Acg,MODERATE,COSM991592(1),0.0213658,0,rs147221323,,,,,,chr19,13318811,13318811,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala2284Thr/c.6850G>A|2510|CACNA1A|protein_coding|CODING|NM_023035.2|47|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2279Pro/c.6837G>A|2506|CACNA1A|protein_coding|CODING|NM_001127222.1|47|1),3_prime_UTR_variant(MODIFIER||49|c.*49G>A|2264|CACNA1A|protein_coding|CODING|NM_000068.3|47|1|WARNING_TRANSCRIPT_INCOMPLETE),3_prime_UTR_variant(MODIFIER||49|c.*49G>A|2261|CACNA1A|protein_coding|CODING|NM_001127221.1|47|1),3_prime_UTR_variant(MODIFIER||49|c.*49G>A|2261|CACNA1A|protein_coding|CODING|NM_001174080.1|47|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:DNase1,HUVEC:DNase1,GM06990:DNase1",,,,0.0061,0.0504,0.0596,0.03,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,CACNA1A,MISSENSE,NM_023035.2:p.Ser2224Pro/c.6670T>C,Tcc/Ccc,MODERATE,,0.686901,0.7897,rs16051,,,,,,chr19,13319693,13319693,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser2224Pro/c.6670T>C|2264|CACNA1A|protein_coding|CODING|NM_000068.3|46|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser2221Pro/c.6661T>C|2261|CACNA1A|protein_coding|CODING|NM_001174080.1|46|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser2224Pro/c.6670T>C|2510|CACNA1A|protein_coding|CODING|NM_023035.2|46|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|caT/caC|p.His2220His/c.6660T>C|2261|CACNA1A|protein_coding|CODING|NM_001127221.1|46|1),synonymous_variant(LOW|SILENT|caT/caC|p.His2219His/c.6657T>C|2506|CACNA1A|protein_coding|CODING|NM_001127222.1|46|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K27ac,H1ESC:DNase1,GM06990:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,GM12878:PolII,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,RCV000079479.3,,0.5644,0.6081,0.6252,0.61,0.72,0.56,,,,,,,,,,,,,,,,
missense_variant,CCDC130,MISSENSE,NM_030818.2:p.Ser22Cys/c.65C>G,tCt/tGt,MODERATE,COSM3756366(1),0.00998403,0.001,rs12974461,0.02(D),"0.986,0.997(D,D)",3.125(M),-0.5540(T),,chr19,13867018,13867018,C,G,het,missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser22Cys/c.65C>G|396|CCDC130|protein_coding|CODING|NM_030818.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0187,0.0288,0.02,0.01,0.03,,0.000000(D),1.000(D),1.2(T),0.1244(T),0.333,4.466058,4.9,4.9,0.561000,2.266000,6.883000,0.978000,0.997000,1.000000,15.5826
synonymous_variant,ZSWIM4,SILENT,NM_023072.2:p.Glu53Glu/c.159G>A,gaG/gaA,LOW,COSM3756367(2),0.0896565,0.0337,rs28480458,,,,,,chr19,13910539,13910539,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu53Glu/c.159G>A|989|ZSWIM4|protein_coding|CODING|NM_023072.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0849,0.062,0.0606,0.10,0.15,0.07,,,,,,,,,,,,,,,,
missense_variant,ZSWIM4,MISSENSE,NM_023072.2:p.Met616Val/c.1846A>G,Atg/Gtg,MODERATE,,0.00698882,0,rs386428497,0.01(D),"0.396,0.886(B,P)",2.14(M),-0.7451(T),,chr19,13934296,13934296,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met616Val/c.1846A>G|989|ZSWIM4|protein_coding|CODING|NM_023072.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0101,0.0199,0.02,0.01,0.03,,0.000007(D),0.912(D),"0.77,0.76(T,T)",0.0966(T),0.402,3.191716,4.48,3.44,0.482000,0.717000,6.801000,0.823000,0.996000,1.000000,9.2182
missense_variant,ZSWIM4,MISSENSE,NM_023072.2:p.Asn710His/c.2128A>C,Aat/Cat,MODERATE,,0.00678914,0,rs56177954,0.06(T),"0.003,0.037(B,B)",1.1(L),-1.0524(T),,chr19,13941022,13941022,A,C,het,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn710His/c.2128A>C|989|ZSWIM4|protein_coding|CODING|NM_023072.2|13|1),"H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:PolII,HMEC:DNase1,GM06990:H3K36me3",,,,0.0061,0.0101,0.0199,0.02,0.01,0.03,,0.014703(N),0.972(N),"0.95,0.95(T,T)",0.0303(T),0.081,3.077036,4.16,3.1,0.402000,0.429000,7.110000,0.820000,0.994000,1.000000,8.7378
synonymous_variant,NANOS3,SILENT,NM_001098622.2:p.Thr118Thr/c.354A>G,acA/acG,LOW,COSM438697(2),0.405751,0.3194,rs2016163,,,,,,chr19,13988416,13988416,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr118Thr/c.354A>G|192|NANOS3|protein_coding|CODING|NM_001098622.2|1|1),"H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.3282,0.2478,0.2127,0.38,0.69,0.22,,,,,,,,,,,,,,,,
missense_variant,C19orf57,MISSENSE,NM_024323.3:p.Gln500Arg/c.1499A>G,cAg/cGg,MODERATE,COSM4000527(1),0.390775,0.3085,rs3803892,0.36(T),"0.266,0.01(B,B)",0.895(L),-0.9600(T),,chr19,14000170,14000170,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln500Arg/c.1499A>G|637|C19orf57|protein_coding|CODING|NM_024323.3|6|1),,,,,0.3119,0.2349,0.2117,0.36,0.66,0.21,,0.659305(N),1.000(P),"0.98,0.98(T,T)",0.0000(T),0.018,1.146965,4.17,-5.51,-0.314000,-0.943000,-1.678000,0.001000,0.000000,0.000000,1.9501
synonymous_variant,C19orf57,SILENT,NM_024323.3:p.Pro423Pro/c.1269T>C,ccT/ccC,LOW,COSM4000528(1),0.391773,0.3085,rs3803891,,,,,,chr19,14000400,14000400,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro423Pro/c.1269T>C|637|C19orf57|protein_coding|CODING|NM_024323.3|6|1),H1ESC:H3K36me3,,,,0.3119,0.2363,0.2117,0.36,0.65,0.21,,,,,,,,,,,,,,,,
missense_variant,C19orf57,MISSENSE,NM_024323.3:p.Gly267Arg/c.799G>A,Gga/Aga,MODERATE,COSM3756368(2),0.382388,0.3075,rs2305775,0.6(T),"0.028,0.743(B,P)",0.55(N),-0.9364(T),,chr19,14000870,14000870,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly267Arg/c.799G>A|637|C19orf57|protein_coding|CODING|NM_024323.3|6|1),H1ESC:H3K36me3,,,,0.3119,0.232,0.2117,0.35,0.62,0.21,,0.394047(N),1.000(P),"1.51,1.51(T,T)",0.0000(T),0.059,2.236897,2.86,1.72,0.313000,0.464000,-0.199000,0.174000,0.004000,0.000000,7.3728
synonymous_variant,CC2D1A,SILENT,NM_017721.4:p.Gly427Gly/c.1281T>C,ggT/ggC,LOW,COSM4000529(2),0.421326,0.3016,rs10410239,,,,,,chr19,14030689,14030689,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly427Gly/c.1281T>C|951|CC2D1A|protein_coding|CODING|NM_017721.4|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000116587.2,,0.2996,0.3256,0.2078,0.37,0.72,0.21,,,,,,,,,,,,,,,,
synonymous_variant,DCAF15,SILENT,NM_138353.2:p.Pro207Pro/c.621G>A,ccG/ccA,LOW,,0.00738818,0,rs118005906,,,,,,chr19,14067171,14067171,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro207Pro/c.621G>A|600|DCAF15|protein_coding|CODING|NM_138353.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0051,0.0043,0.0288,0.02,0.01,0.02,,,,,,,,,,,,,,,,
missense_variant,RFX1,MISSENSE,NM_002918.4:p.Thr370Ala/c.1108A>G,Acc/Gcc,MODERATE,COSM438704(13),0.53135,0.4454,rs2305780,0.75(T),0.038(B),0.69(N),-0.9503(T),,chr19,14083761,14083761,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr370Ala/c.1108A>G|979|RFX1|protein_coding|CODING|NM_002918.4|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4059,0.5,0.4742,0.55,0.72,0.46,,0.113536(N),1.000(P),1.05(T),0.0000(T),0.016,1.035327,4.02,-2.85,-0.441000,-0.867000,0.368000,0.383000,0.227000,0.996000,0.6272
missense_variant,RLN3,MISSENSE,NM_080864.2:p.Gly112Val/c.335G>T,gGg/gTg,MODERATE,COSM1750677(1),0.189896,0.2946,rs78161395,0.12(T),0.015(B),1.48(L),-1.0131(T),,chr19,14141666,14141666,G,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly112Val/c.335G>T|142|RLN3|protein_coding|CODING|NM_080864.2|2|1),upstream_gene_variant(MODIFIER||886||636|IL27RA|protein_coding|CODING|NM_004843.3||1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3292,0.17,0.1511,0.13,0.08,0.15,,0.761990(N),1.000(P),1.1(T),0.0000(T),0.055,1.591005,4.62,1.21,-1.531000,0.059000,0.842000,0.003000,0.004000,0.009000,6.2509
missense_variant,LOC113230,MISSENSE,NM_001291291.1:p.Val198Ala/c.593T>C,gTg/gCg,MODERATE,COSM3766270(2),0.496006,0.37,rs7258963,0.97(T),,,-0.9695(T),,chr19,14185226,14185226,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val198Ala/c.593T>C|219|LOC113230|protein_coding|CODING|NM_001291291.1|2|1),downstream_gene_variant(MODIFIER||935|||MIR1199||NON_CODING|NR_106715.1||1),non_coding_exon_variant(MODIFIER|||n.959T>C||LOC113230||CODING|NR_111941.1|2|1)","K562:ZBTB7A,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HeLa-S3:H3K4me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HepG2:H3K4me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.4458,0.4496,0.3777,,,,,0.462660(N),,1.6(T),0.0000(T),0.071,0.458121,4.36,3.33,-0.222000,0.617000,0.838000,0.991000,0.984000,0.991000,6.9891
synonymous_variant,SAMD1,SILENT,NM_138352.1:p.Glu234Glu/c.702A>G,gaA/gaG,LOW,,0.103435,0.0813,rs8062,,,,,,chr19,14200109,14200109,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu234Glu/c.702A>G|432|SAMD1|protein_coding|CODING|NM_138352.1|2|1),"H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2",,,,0.1166,0.2608,0.1163,,,,,,,,,,,,,,,,,,,
synonymous_variant,ASF1B,SILENT,NM_018154.2:p.Gly185Gly/c.555G>C,ggG/ggC,LOW,,0.201677,0.0933,rs8102267,,,,,,chr19,14231325,14231325,C,G,het,synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly185Gly/c.555G>C|202|ASF1B|protein_coding|CODING|NM_018154.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.2968,0.1193,0.20,0.36,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ASF1B,SILENT,NM_018154.2:p.Leu184Leu/c.550T>C,Ttg/Ctg,LOW,,0.197284,0.0933,rs8102698,,,,,,chr19,14231330,14231330,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu184Leu/c.550T>C|202|ASF1B|protein_coding|CODING|NM_018154.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1115,0.2925,0.1193,0.20,0.35,0.12,,,,,,,,,,,,,,,,
synonymous_variant,LPHN1,SILENT,NM_001008701.2:p.Tyr815Tyr/c.2445C>T,taC/taT,LOW,,0.100439,0.0724,rs2242222,,,,,,chr19,14268799,14268799,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr815Tyr/c.2445C>T|1474|LPHN1|protein_coding|CODING|NM_001008701.2|14|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr810Tyr/c.2430C>T|1469|LPHN1|protein_coding|CODING|NM_014921.4|13|1),intron_variant(MODIFIER|||n.400+2508G>A||LOC100507373||NON_CODING|NR_045214.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0869,0.2622,0.1113,0.10,0.06,0.11,,,,,,,,,,,,,,,,
synonymous_variant,LPHN1,SILENT,NM_001008701.2:p.Arg329Arg/c.987T>C,cgT/cgC,LOW,,0.219249,0.0774,rs3745462,,,,,,chr19,14273641,14273641,A,G,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg329Arg/c.987T>C|1474|LPHN1|protein_coding|CODING|NM_001008701.2|6|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg324Arg/c.972T>C|1469|LPHN1|protein_coding|CODING|NM_014921.4|5|1),intron_variant(MODIFIER|||n.401-5948A>G||LOC100507373||NON_CODING|NR_045214.1|2|1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1084,0.3026,0.1322,0.22,0.40,0.13,,,,,,,,,,,,,,,,
synonymous_variant,PKN1,SILENT,NM_213560.1:p.Leu263Leu/c.789A>G,ttA/ttG,LOW,COSM4131281(1),0.996406,1,rs8107892,,,,,,chr19,14561722,14561722,A,G,hom,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu257Leu/c.771A>G|942|PKN1|protein_coding|CODING|NM_002741.3|6|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu263Leu/c.789A>G|948|PKN1|protein_coding|CODING|NM_213560.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,1,0.9942,0.9881,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,EMR3,SILENT,NM_032571.4:p.Ser636Ser/c.1908A>G,tcA/tcG,LOW,,0.0870607,0.1181,rs61729083,,,,,,chr19,14736316,14736316,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser584Ser/c.1752A>G|600|EMR3|protein_coding|CODING|NM_001289158.1|14|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser510Ser/c.1530A>G|526|EMR3|protein_coding|CODING|NM_001289159.1|12|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser636Ser/c.1908A>G|652|EMR3|protein_coding|CODING|NM_032571.4|15|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0235,0.0922,0.0765,0.08,0.10,0.06,,,,,,,,,,,,,,,,
missense_variant,EMR3,MISSENSE,NM_032571.4:p.Arg385Gln/c.1154G>A,cGg/cAg,MODERATE,,0.857228,0.869,rs45508602,1(T),"0.003,0.0,0.004(B,B,B)",-0.78(N),-0.9757(T),,chr19,14752325,14752325,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg333Gln/c.998G>A|600|EMR3|protein_coding|CODING|NM_001289158.1|9|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg259Gln/c.776G>A|526|EMR3|protein_coding|CODING|NM_001289159.1|7|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg385Gln/c.1154G>A|652|EMR3|protein_coding|CODING|NM_032571.4|10|1)",,,,,0.9591,0.9323,0.8559,0.82,0.76,0.86,,,1.000(P),"0.98,0.98,0.98(T,T,T)",0.0000(T),0.139,-0.194245,3.84,2.77,-0.361000,0.546000,0.733000,0.741000,1.000000,0.664000,6.0469
missense_variant,EMR3,MISSENSE,NM_032571.4:p.Leu379Val/c.1135C>G,Ctc/Gtc,MODERATE,,0.0117812,0,rs59183049,0.01(D),"0.996,0.996,0.991(D,D,D)",1.685(L),-1.0254(T),,chr19,14752344,14752344,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu327Val/c.979C>G|600|EMR3|protein_coding|CODING|NM_001289158.1|9|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu253Val/c.757C>G|526|EMR3|protein_coding|CODING|NM_001289159.1|7|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu379Val/c.1135C>G|652|EMR3|protein_coding|CODING|NM_032571.4|10|1)",,,,,0.001,0.0043,0.0169,0.02,0.03,0.01,,,0.995(N),"1.1,1.1,1.1(T,T,T)",0.0833(T),0.136,2.305336,3.84,2.77,0.561000,0.794000,1.241000,0.451000,0.999000,1.000000,10.2343
missense_variant,EMR3,MISSENSE,NM_032571.4:p.Glu127Gln/c.379G>C,Gag/Cag,MODERATE,,0.855831,0.8849,rs4606855,0.25(T),"0.001,0.005(B,B)",0(N),-1.0541(T),,chr19,14769339,14769339,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu75Gln/c.223G>C|600|EMR3|protein_coding|CODING|NM_001289158.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu127Gln/c.379G>C|652|EMR3|protein_coding|CODING|NM_032571.4|5|1),intron_variant(MODIFIER|||c.199+4891G>C|526|EMR3|protein_coding|CODING|NM_001289159.1|3|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.8875,0.7478,0.7227,0.79,0.93,0.72,,,1.000(P),"0.47,2.84(T,T)",0.0000(T),0.07,-1.388845,2.93,-5.85,-1.580000,-2.680000,-0.756000,0.000000,0.000000,0.000000,7.9104
synonymous_variant,ZNF333,SILENT,NM_032433.2:p.Thr158Thr/c.474T>A,acT/acA,LOW,COSM4131290(1),0.829473,0.8889,rs6511961,,,,,,chr19,14817548,14817548,T,A,het,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr158Thr/c.474T>A|303|ZNF333|protein_coding|CODING|NM_001300912.1|7|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr158Thr/c.474T>A|665|ZNF333|protein_coding|CODING|NM_032433.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8834,0.7046,0.6223,0.71,0.91,0.60,,,,,,,,,,,,,,,,
missense_variant,EMR2,MISSENSE,NM_013447.3:p.Leu614Phe/c.1842G>C,ttG/ttC,MODERATE,,0.816494,0.8274,rs2524383,1(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B)",-2.875(N),-0.9915(T),,chr19,14862430,14862430,C,G,het,"missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu556Phe/c.1668G>C|765|EMR2|protein_coding|CODING|NM_001271052.1|14|1),missense_variant(MODERATE|MISSENSE|ttG/ttC|p.Leu614Phe/c.1842G>C|823|EMR2|protein_coding|CODING|NM_013447.3|16|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.864,0.6571,0.7207,0.77,0.90,0.70,,,0.000(P),"1.91,1.91,1.91,1.91,1.91,1.91(T,T,T,T,T,T)",0.0000(T),0.609,-0.358782,4.62,3.57,-0.281000,1.078000,1.820000,0.395000,0.996000,0.985000,7.7491
missense_variant,EMR2,MISSENSE,NM_013447.3:p.Ala314Val/c.941C>T,gCc/gTc,MODERATE,COSM3756378(1),0.189896,0.1667,rs35612307,0.18(T),"0.057,0.027,0.002,0.037,0.01,0.085(B,B,B,B,B,B)",1.385(L),-1.0599(T),,chr19,14875388,14875388,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala314Val/c.941C>T|765|EMR2|protein_coding|CODING|NM_001271052.1|10|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala314Val/c.941C>T|823|EMR2|protein_coding|CODING|NM_013447.3|11|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.138,0.3458,0.2813,0.24,0.12,0.30,,,1.000(P),"-0.91,-1.05,-0.44,0.35,1.1,-1.2,1.48,-1.09(T,T,T,T,T,T,T,T)",0.0000(T),0.135,2.579958,3.77,-3.32,0.508000,-0.240000,-0.787000,0.472000,0.000000,0.000000,2.2231
missense_variant,EMR2,MISSENSE,NM_013447.3:p.Leu160Val/c.478C>G,Ctc/Gtc,MODERATE,COSM3742780(3),,,rs12976472,0.72(T),"0.344,0.019,0.046,0.015(B,B,B,B)",0.345(N),-0.9983(T),,chr19,14877799,14877799,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu160Val/c.478C>G|765|EMR2|protein_coding|CODING|NM_001271052.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu160Val/c.478C>G|823|EMR2|protein_coding|CODING|NM_013447.3|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,0.32,0.40,0.28,,,1.000(P),"-0.86,-0.99,-1.17,-1.15,-1.04(T,T,T,T,T)",0.0000(T),0.112,-0.844360,3.06,-1.28,0.508000,0.069000,-0.286000,0.034000,0.000000,0.000000,4.8562
synonymous_variant,EMR2,SILENT,NM_013447.3:p.Asp157Asp/c.471C>T,gaC/gaT,LOW,COSM3742781(3),0.440695,0.3571,rs12976475,,,,,,chr19,14877806,14877806,G,A,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp157Asp/c.471C>T|765|EMR2|protein_coding|CODING|NM_001271052.1|5|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp157Asp/c.471C>T|823|EMR2|protein_coding|CODING|NM_013447.3|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.227,0.4755,0.4841,,,,,,,,,,,,,,,,,,,
missense_variant,EMR2,MISSENSE,NM_013447.3:p.Lys154Ile/c.461A>T,aAa/aTa,MODERATE,COSM4131294(2),0.403754,0.3383,rs12985807,0.23(T),"0.0,0.004,0.074,0.006(B,B,B,B)",0.5(N),-1.0151(T),,chr19,14877816,14877816,T,A,hom,"missense_variant(MODERATE|MISSENSE|aAa/aTa|p.Lys154Ile/c.461A>T|765|EMR2|protein_coding|CODING|NM_001271052.1|5|1),missense_variant(MODERATE|MISSENSE|aAa/aTa|p.Lys154Ile/c.461A>T|823|EMR2|protein_coding|CODING|NM_013447.3|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1748,0.4352,0.4463,,,,,,1.000(P),"-2.99,-2.99,-2.99,-2.99,-2.99(D,D,D,D,D)",0.0000(T),0.185,0.459421,3.06,-3.47,-1.445000,-0.849000,-2.545000,0.000000,0.000000,0.000000,1.1449
missense_variant,EMR2,MISSENSE,NM_013447.3:p.Leu153Phe/c.457C>T,Ctc/Ttc,MODERATE,COSM4131295(2),0.404153,0.3373,rs12976493,0.71(T),"0.001,0.002,0.002,0.005(B,B,B,B)",1.51(L),-1.0419(T),,chr19,14877820,14877820,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu153Phe/c.457C>T|765|EMR2|protein_coding|CODING|NM_001271052.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu153Phe/c.457C>T|823|EMR2|protein_coding|CODING|NM_013447.3|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1748,0.4366,0.4473,,,,,,1.000(P),"-2.42,-2.42,-1.42,-2.42,-2.42(D,D,T,D,D)",0.0000(T),0.093,-1.577939,3.06,-6.11,-1.973000,-1.716000,-0.324000,0.000000,0.000000,0.000000,6.3278
missense_variant,OR7C1,MISSENSE,NM_198944.1:p.Glu171Lys/c.511G>A,Gaa/Aaa,MODERATE,,0.96865,1,rs10415312,0.19(T),0.007(B),1.195(L),-1.0135(T),,chr19,14910438,14910438,C,T,hom,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu171Lys/c.511G>A|320|OR7C1|protein_coding|CODING|NM_198944.1|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.9898,0.9438,0.8966,0.94,0.98,0.91,,0.395467(N),1.000(P),1.19(T),0.0000(T),0.068,1.083111,3.64,-7.27,-1.295000,-2.871000,-3.762000,0.000000,0.000000,0.000000,6.9419
missense_variant,OR7C1,MISSENSE,NM_198944.1:p.Val126Ile/c.376G>A,Gtc/Atc,MODERATE,,0.839058,0.8869,rs10415562,1(T),0.001(B),-2.68(N),-0.9934(T),,chr19,14910573,14910573,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val126Ile/c.376G>A|320|OR7C1|protein_coding|CODING|NM_198944.1|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.8732,0.7925,0.7366,0.79,0.85,0.76,,0.002142(N),1.000(P),1.73(T),0.0000(T),0.038,-1.641372,3.64,2.59,-0.408000,0.115000,1.716000,0.052000,0.999000,1.000000,4.3132
synonymous_variant,CCDC105,SILENT,NM_173482.2:p.Thr136Thr/c.408C>A,acC/acA,LOW,COSM3749468(4),0.0996406,0.2073,rs35647251,,,,,,chr19,15122045,15122045,C,A,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr136Thr/c.408C>A|499|CCDC105|protein_coding|CODING|NM_173482.2|1|1),upstream_gene_variant(MODIFIER||590|||SLC1A6||CODING|NR_073589.1||1)","H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.0798,0.0706,0.1531,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,CCDC105,MISSENSE,NM_173482.2:p.Ser444Thr/c.1331G>C,aGc/aCc,MODERATE,COSM3766276(2),0.859824,0.9077,rs8111625,0.61(T),0.0(B),-1.87(N),-1.0410(T),,chr19,15133762,15133762,G,C,het,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser444Thr/c.1331G>C|499|CCDC105|protein_coding|CODING|NM_173482.2|7|1),"H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.7444,0.8545,0.8091,0.86,0.92,0.82,,0.419319(N),1.000(P),4.3(T),0.0000(T),0.024,-0.986297,4.12,0.78,-0.345000,-0.064000,0.122000,0.035000,0.000000,0.000000,3.9165
missense_variant,OR1I1,MISSENSE,NM_001004713.1:p.Ile50Phe/c.148A>T,Atc/Ttc,MODERATE,COSM1582855(2),0.181909,0.2371,rs59166286,0.7(T),0.184(B),0.85(L),-0.9301(T),,chr19,15198024,15198024,A,T,het,missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile50Phe/c.148A>T|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HeLa-S3:Nrsf,HSMM:H3K27me3,K562:Nrsf,HepG2:H3K27me3",,,,0.3241,0.219,0.17,0.13,0.05,0.17,,0.511519(U),1.000(P),5.41(T),0.0000(T),0.071,-1.676069,4.84,-7.59,-1.508000,-1.432000,-1.373000,0.012000,0.026000,0.000000,2.2359
synonymous_variant,OR1I1,SILENT,NM_001004713.1:p.Pro129Pro/c.387A>G,ccA/ccG,LOW,COSM4131298(1),0.9998,0.999,rs8105277,,,,,,chr19,15198263,15198263,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro129Pro/c.387A>G|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HeLa-S3:Nrsf,H1ESC:Nrsf,HSMM:H3K27me3,K562:Nrsf,HepG2:H3K27me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,OR1I1,MISSENSE,NM_001004713.1:p.Pro139Arg/c.416C>G,cCt/cGt,MODERATE,,0.671725,0.622,rs8104843,1(T),0.0(B),-1.77(N),-1.0066(T),,chr19,15198292,15198292,C,G,hom,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro139Arg/c.416C>G|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HeLa-S3:Nrsf,H1ESC:Nrsf,HSMM:H3K27me3,K562:Nrsf,HepG2:H3K27me3",,,,0.8885,0.7723,0.829,0.71,0.44,0.84,,0.412065(N),1.000(P),1.5(T),0.0000(T),0.034,-3.041142,4.8,-1.19,-0.909000,-0.498000,-0.900000,0.001000,0.000000,0.000000,5.8812
missense_variant,OR1I1,MISSENSE,NM_001004713.1:p.Gly189Cys/c.565G>T,Ggc/Tgc,MODERATE,COSM3756386(1),0.182109,0.2371,rs73008811,1(T),0.0(B),-3.675(N),-0.9026(T),,chr19,15198441,15198441,G,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly189Cys/c.565G>T|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3252,0.219,0.17,0.13,0.05,0.17,,0.003689(N),0.980(P),10.21(T),0.0000(T),0.094,-0.803773,4.79,3.76,-0.375000,0.325000,2.503000,0.714000,1.000000,1.000000,6.7456
missense_variant,OR1I1,MISSENSE,NM_001004713.1:p.Phe211Leu/c.631T>C,Ttc/Ctc,MODERATE,,0.672923,0.622,rs8108721,1(T),0.003(B),0.705(N),-0.9297(T),,chr19,15198507,15198507,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe211Leu/c.631T>C|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8885,0.7723,0.829,0.71,0.44,0.84,,0.017087(N),1.000(P),1.43(T),0.0000(T),0.014,-1.306501,4.64,2.39,-0.227000,0.173000,-0.383000,0.032000,0.001000,0.000000,3.758
missense_variant,OR1I1,MISSENSE,NM_001004713.1:p.His244Tyr/c.730C>T,Cac/Tac,MODERATE,,0.182109,0.2371,rs73008812,0(D),0.999(D),4.155(H),-1.0213(T),,chr19,15198606,15198606,C,T,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His244Tyr/c.730C>T|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3252,0.219,0.17,0.13,0.05,0.17,,0.004803(U),0.004(P),8.14(T),0.0000(T),0.26,2.950495,4.6,4.6,0.549000,2.419000,2.196000,0.174000,0.941000,0.954000,15.022
missense_variant,OR1I1,MISSENSE,NM_001004713.1:p.Tyr252Ser/c.755A>C,tAt/tCt,MODERATE,COSM4000534(1),0.490815,0.3849,rs8105737,0.02(D),0.979(D),3.785(H),-0.9113(T),,chr19,15198631,15198631,A,C,het,missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr252Ser/c.755A>C|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5675,0.5533,0.659,0.58,0.39,0.67,,0.011883(U),0.630(P),1.02(T),0.0000(T),0.176,1.318584,4.6,3.59,-0.434000,0.809000,1.274000,0.024000,0.743000,0.540000,8.4904
missense_variant,OR1I1,MISSENSE,NM_001004713.1:p.Ile292Thr/c.875T>C,aTa/aCa,MODERATE,COSM3742786(2),0.181709,0.2371,rs16980312,0(D),0.004(B),1.24(L),-1.0767(T),,chr19,15198751,15198751,T,C,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile292Thr/c.875T>C|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3252,0.219,0.17,0.13,0.05,0.17,,0.024597(U),0.988(P),1.14(T),0.0001(T),0.105,1.399454,4.64,3.62,0.454000,0.812000,4.392000,0.391000,0.889000,0.852000,8.3906
synonymous_variant,OR1I1,SILENT,NM_001004713.1:p.Asp296Asp/c.888T>C,gaT/gaC,LOW,,0.903954,0.8006,rs12975625,,,,,,chr19,15198764,15198764,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp296Asp/c.888T>C|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9202,0.9135,0.9036,0.92,0.95,0.91,,,,,,,,,,,,,,,,
synonymous_variant,OR1I1,SILENT,NM_001004713.1:p.Pro325Pro/c.975A>T,ccA/ccT,LOW,COSM3756387(1),0.182109,0.2371,rs16980313,,,,,,chr19,15198851,15198851,A,T,het,synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro325Pro/c.975A>T|355|OR1I1|protein_coding|CODING|NM_001004713.1|1|1),"GM06990:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3252,0.219,0.17,0.13,0.05,0.17,,,,,,,,,,,,,,,,
missense_variant,SYDE1,MISSENSE,NM_033025.5:p.Ala256Thr/c.766G>A,Gca/Aca,MODERATE,,0.23722,0.3125,rs2240297,0.69(T),"0.001,0.001(B,B)",0(N),-0.9175(T),,chr19,15220850,15220850,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala189Thr/c.565G>A|668|SYDE1|protein_coding|CODING|NM_001300910.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala256Thr/c.766G>A|735|SYDE1|protein_coding|CODING|NM_033025.5|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.3875,0.2795,0.1948,,,,,0.452692(N),1.000(P),3.0(T),0.0000(T),0.053,-0.759223,3.72,-6.12,-1.364000,-1.180000,0.014000,0.062000,0.000000,0.000000,1.3737
synonymous_variant,ILVBL,SILENT,NM_006844.4:p.Leu488Leu/c.1464C>T,ctC/ctT,LOW,COSM3756388(4),0.411741,0.4782,rs2074262,,,,,,chr19,15226970,15226970,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu488Leu/c.1464C>T|632|ILVBL|protein_coding|CODING|NM_006844.4|12|1),downstream_gene_variant(MODIFIER||1171||668|SYDE1|protein_coding|CODING|NM_001300910.1||1),downstream_gene_variant(MODIFIER||1171||735|SYDE1|protein_coding|CODING|NM_033025.5||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4254,0.4741,0.507,0.42,0.28,0.49,,,,,,,,,,,,,,,,
synonymous_variant,ILVBL,SILENT,NM_006844.4:p.Gly468Gly/c.1404C>T,ggC/ggT,LOW,COSM3766278(1),0.631789,0.5417,rs2074263,,,,,,chr19,15227030,15227030,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly468Gly/c.1404C>T|632|ILVBL|protein_coding|CODING|NM_006844.4|12|1),downstream_gene_variant(MODIFIER||1231||668|SYDE1|protein_coding|CODING|NM_001300910.1||1),downstream_gene_variant(MODIFIER||1231||735|SYDE1|protein_coding|CODING|NM_033025.5||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5031,0.6427,0.7147,0.71,0.70,0.72,,,,,,,,,,,,,,,,
synonymous_variant,ILVBL,SILENT,NM_006844.4:p.Asp345Asp/c.1035T>C,gaT/gaC,LOW,COSM438769(2),0.225439,0.3323,rs1131177,,,,,,chr19,15229993,15229993,A,G,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp345Asp/c.1035T>C|632|ILVBL|protein_coding|CODING|NM_006844.4|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3783,0.2752,0.1968,0.15,0.05,0.20,,,,,,,,,,,,,,,,
synonymous_variant,ILVBL,SILENT,NM_006844.4:p.Leu213Leu/c.639G>T,ctG/ctT,LOW,,0.556909,0.5635,rs2074265,,,,,,chr19,15233581,15233581,C,A,het,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu213Leu/c.639G>T|632|ILVBL|protein_coding|CODING|NM_006844.4|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5051,0.4078,0.4473,0.56,0.72,0.47,,,,,,,,,,,,,,,,
missense_variant,NOTCH3,MISSENSE,NM_000435.2:p.Ala2223Val/c.6668C>T,gCg/gTg,MODERATE,COSM3756389(4),0.629393,0.5724,rs1044009,0.32(T),0.003(B),0(N),-0.9533(T),,chr19,15271771,15271771,G,A,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala2223Val/c.6668C>T|2321|NOTCH3|protein_coding|CODING|NM_000435.2|33|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7239,0.6196,0.7714,0.73,0.60,0.80,,,1.000(P),-1.47(T),0.0000(T),0.092,0.586008,3.82,0.427,0.467000,0.078000,1.122000,0.342000,0.001000,0.149000,8.0672
synonymous_variant,NOTCH3,SILENT,NM_000435.2:p.Pro1521Pro/c.4563A>G,ccA/ccG,LOW,COSM438775(11),0.871805,0.8006,rs1044006,,,,,,chr19,15285052,15285052,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1521Pro/c.4563A>G|2321|NOTCH3|protein_coding|CODING|NM_000435.2|25|1),"H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8548,0.7637,0.8817,0.93,0.98,0.90,,,,,,,,,,,,,,,,
synonymous_variant,NOTCH3,SILENT,NM_000435.2:p.Pro914Pro/c.2742A>G,ccA/ccG,LOW,COSM4131310(1),0.739018,0.8284,rs1043997,,,,,,chr19,15292437,15292437,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro914Pro/c.2742A>G|2321|NOTCH3|protein_coding|CODING|NM_000435.2|17|1),"H1ESC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8067,0.7104,0.841,0.79,0.64,0.87,,,,,,,,,,,,,,,,
synonymous_variant,NOTCH3,SILENT,NM_000435.2:p.Cys846Cys/c.2538C>T,tgC/tgT,LOW,COSM4131311(1),0.519968,0.5933,rs1043996,,,,,,chr19,15295134,15295134,G,A,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys846Cys/c.2538C>T|2321|NOTCH3|protein_coding|CODING|NM_000435.2|16|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.6697,0.562,0.6928,0.57,0.28,0.72,,,,,,,,,,,,,,,,
synonymous_variant,NOTCH3,SILENT,NM_000435.2:p.Ala202Ala/c.606A>G,gcA/gcG,LOW,,0.855831,0.871,rs1043994,,,,,,chr19,15302844,15302844,T,C,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala202Ala/c.606A>G|2321|NOTCH3|protein_coding|CODING|NM_000435.2|4|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.8384,0.7435,0.8519,0.89,0.91,0.88,,,,,,,,,,,,,,,,
missense_variant,AKAP8,MISSENSE,NM_005858.3:p.Arg295Cys/c.883C>T,Cgc/Tgc,MODERATE,,0.00259585,0.001,rs45479794,0.06(T),"0.763,0.763(P,P)",1.5(L),-0.8341(T),,chr19,15483137,15483137,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg295Cys/c.883C>T|692|AKAP8|protein_coding|CODING|NM_005858.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.0099,0.01,0.00,0.01,,0.033784(N),0.994(D),0.82(T),0.1467(T),0.42,4.154205,5.44,5.44,0.563000,2.549000,5.939000,0.812000,0.492000,1.000000,16.1722
missense_variant,AKAP8L,MISSENSE,NM_014371.3:p.His458Gln/c.1374C>G,caC/caG,MODERATE,,1,1,rs2058322,0.46(T),0.0(B),-1.1(N),-1.0214(T),,chr19,15508362,15508362,G,C,hom,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His397Gln/c.1191C>G|585|AKAP8L|protein_coding|CODING|NM_001291478.1|11|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His458Gln/c.1374C>G|646|AKAP8L|protein_coding|CODING|NM_014371.3|11|1),non_coding_exon_variant(MODIFIER|||n.1607C>G||AKAP8L||CODING|NR_111971.1|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000218(N),1.000(P),1.06(T),0.0000(T),0.051,-0.512488,5.26,1.43,-0.225000,-0.136000,0.337000,0.953000,0.997000,0.997000,4.6127
missense_variant,PGLYRP2,MISSENSE,NM_052890.3:p.Arg394Gln/c.1181G>A,cGg/cAg,MODERATE,COSM3756393(2),0.224641,0.2966,rs34440547,0.21(T),"0.009,0.015(B,B)",1.245(L),-0.9417(T),,chr19,15582863,15582863,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg394Gln/c.1181G>A|576|PGLYRP2|protein_coding|CODING|NM_052890.3|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2311,0.2406,0.2227,0.19,0.15,0.21,,0.356872(N),1.000(P),"2.26,2.26(T,T)",0.0000(T),0.041,0.324924,4.43,0.993,-1.134000,-0.149000,-0.486000,0.005000,0.184000,0.000000,8.9339
missense_variant,PGLYRP2,MISSENSE,NM_052890.3:p.Met270Lys/c.809T>A,aTg/aAg,MODERATE,COSM1129966(4),0.366214,0.3631,rs892145,0.34(T),"0.104,0.013(B,B)",1.95(M),-0.9247(T),,chr19,15586672,15586672,A,T,het,missense_variant(MODERATE|MISSENSE|aTg/aAg|p.Met270Lys/c.809T>A|576|PGLYRP2|protein_coding|CODING|NM_052890.3|2|1),K562:H3K27me3,,,,0.3027,0.3444,0.3917,0.38,0.39,0.38,,0.583853(N),1.000(P),"3.69,3.68(T,T)",0.0000(T),0.167,0.266646,5.31,-1.07,-1.447000,-0.419000,-0.159000,0.058000,0.886000,0.001000,12.7595
missense_variant,PGLYRP2,MISSENSE,NM_052890.3:p.Arg99Gln/c.296G>A,cGa/cAa,MODERATE,COSM438798(5),0.351238,0.3631,rs733731,0.71(T),"0.005,0.002(B,B)",0(N),-0.9146(T),,chr19,15587185,15587185,C,T,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg99Gln/c.296G>A|576|PGLYRP2|protein_coding|CODING|NM_052890.3|2|1),"K562:H3K27me3,H1ESC:H3K9me3",,,,0.2986,0.3401,0.4056,0.37,0.34,0.39,,0.898418(N),1.000(P),"3.6,3.57(T,T)",0.0000(T),0.019,-0.203499,5.27,-5.85,-1.264000,-1.182000,-0.461000,0.004000,0.001000,0.012000,14.0632
missense_variant,PGLYRP2,MISSENSE,NM_052890.3:p.Thr46Ala/c.136A>G,Acc/Gcc,MODERATE,COSM148523(2),0.351837,0.3651,rs3813135,1(T),"0.0,0.0(B,B)",-2.2(N),-0.9248(T),,chr19,15587345,15587345,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr46Ala/c.136A>G|576|PGLYRP2|protein_coding|CODING|NM_052890.3|2|1),"K562:H3K27me3,CD4:H3K36ac,H1ESC:H3K9me3,CD4:H3K4ac",,,,0.2986,0.3429,0.4046,0.37,0.34,0.38,,0.857270(N),1.000(P),"3.94,3.9(T,T)",0.0000(T),0.013,-1.115003,4.44,2.05,-1.096000,0.570000,-0.075000,0.000000,0.000000,0.000000,6.1412
synonymous_variant,CYP4F8,SILENT,NM_007253.3:p.Leu20Leu/c.60G>T,ctG/ctT,LOW,,0.524161,0.4266,rs4646523,,,,,,chr19,15726487,15726487,G,T,hom,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu20Leu/c.60G>T|519|CYP4F8|protein_coding|CODING|NM_007253.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5419,0.4942,0.6272,0.60,0.50,0.65,,,,,,,,,,,,,,,,
missense_variant,CYP4F8,MISSENSE,NM_007253.3:p.Gln447Pro/c.1340A>C,cAg/cCg,MODERATE,,0.71246,0.7173,rs2056822,,,,,,chr19,15739597,15739597,A,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln447Pro/c.1340A>C|519|CYP4F8|protein_coding|CODING|NM_007253.3|12|1|WARNING_TRANSCRIPT_INCOMPLETE),HeLa-S3:H3K27me3,,,,0.5951,0.755,0.7296,0.74,0.74,0.74,,,,,,,,,,,,,,,,
missense_variant,CYP4F12,MISSENSE,NM_023944.3:p.Pro13Leu/c.38C>T,cCg/cTg,MODERATE,COSM3756399(1),0.205671,0.0109,rs16995376,0.31(T),"0.075,0.021,0.014(B,B,B)",1.78(L),-1.0735(T),,chr19,15784377,15784377,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro13Leu/c.38C>T|524|CYP4F12|protein_coding|CODING|NM_023944.3|2|1),non_coding_exon_variant(MODIFIER|||n.157C>T||CYP4F12||CODING|NR_117085.1|2|1)","HepG2:RXRA,HepG2:H3K4me2,HeLa-S3:DNase1,HepG2:p300,HepG2:HDAC2,HepG2:SP1,HepG2:HNF4A,HepG2:H3K4me3,HepG2:FOXA2,HepG2:CTCF,HepG2:FOXA1,HepG2:DNase1,HepG2:Rad21",,,,0.1984,0.2161,0.2584,0.28,0.34,0.24,,0.836348(U),1.000(P),"-2.96,-2.96(D,D)",0.0000(T),0.081,0.436299,2.46,-4.92,-1.284000,-2.258000,-4.371000,0.000000,0.000000,0.000000,3.7556
missense_variant,CYP4F12,MISSENSE,NM_023944.3:p.Thr16Met/c.47C>T,aCg/aTg,MODERATE,COSM4131333(1),0.869808,0.998,rs16995378,0.08(T),"0.042,0.34(B,B)",0.345(N),-0.8345(T),,chr19,15784386,15784386,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr16Met/c.47C>T|524|CYP4F12|protein_coding|CODING|NM_023944.3|2|1),non_coding_exon_variant(MODIFIER|||n.166C>T||CYP4F12||CODING|NR_117085.1|2|1)","HepG2:RXRA,HepG2:H3K4me2,HeLa-S3:DNase1,HepG2:p300,HepG2:HDAC2,HepG2:SP1,HepG2:HNF4A,HepG2:H3K4me3,HepG2:FOXA2,HepG2:CTCF,HepG2:FOXA1,HepG2:DNase1,HepG2:Rad21",,,,0.8241,0.9265,0.8728,0.91,0.88,0.93,,0.002038(U),1.000(P),"-2.34,-2.34(D,D)",0.0000(T),0.138,1.408957,2.46,1.42,-0.320000,0.609000,0.418000,0.000000,0.016000,0.003000,5.3984
missense_variant,CYP4F12,MISSENSE,NM_023944.3:p.Asn76Asp/c.226A>G,Aac/Gac,MODERATE,,0.819888,0.9692,rs609636,0.22(T),"0.001,0.004(B,B)",0.645(N),-1.0130(T),,chr19,15789098,15789098,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn76Asp/c.226A>G|524|CYP4F12|protein_coding|CODING|NM_023944.3|3|1),non_coding_exon_variant(MODIFIER|||n.345A>G||CYP4F12||CODING|NR_117085.1|3|1)",HepG2:H3K36me3,,,,0.7556,0.8818,0.8221,0.92,0.91,0.93,,0.734359(N),1.000(P),"-2.32,-2.32,-2.32(D,D,D)",0.0000(T),0.121,-0.910357,2.92,-5.84,-0.489000,-2.298000,-1.661000,0.004000,0.000000,0.000000,6.2748
splice_donor_variant,CYP4F12,,NR_117085.1:n.387A>G,,HIGH,COSM1180581(1),0.81869,0.9712,rs609290,0.7(T),"0.006,0.004(B,B)",0.145(N),-0.9800(T),,chr19,15789140,15789140,A,G,hom,"splice_donor_variant(HIGH|||n.387A>G||CYP4F12||CODING|NR_117085.1|3|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile90Val/c.268A>G|524|CYP4F12|protein_coding|CODING|NM_023944.3|3|1),intron_variant(MODIFIER|||n.386+1A>G||CYP4F12||CODING|NR_117085.1|3|1)",HepG2:H3K36me3,,,,0.7505,0.8934,0.8151,0.92,0.90,0.93,,0.064575(U),1.000(P),"-2.32,-2.32,-2.32(D,D,D)",0.0000(T),0.138,-0.166277,2.92,-2.63,0.402000,-0.918000,-0.577000,0.001000,0.000000,0.000000,2.3299
missense_variant,CYP4F12,MISSENSE,NM_023944.3:p.Cys188Arg/c.562T>C,Tgt/Cgt,MODERATE,COSM3756400(2),0.620008,0.745,rs2285888,1(T),0.0(B),-1.375(N),-0.9575(T),,chr19,15793235,15793235,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys188Arg/c.562T>C|524|CYP4F12|protein_coding|CODING|NM_023944.3|6|1),non_coding_exon_variant(MODIFIER|||n.699T>C||CYP4F12||CODING|NR_117085.1|5|1)",HepG2:H3K36me3,,,,0.5828,0.6599,0.5288,0.56,0.60,0.53,,0.881865(N),1.000(P),"-1.18,-1.18(T,T)",0.0000(T),0.105,-2.378912,2.36,0.14,-1.374000,-0.146000,0.306000,0.015000,0.004000,0.000000,2.5919
synonymous_variant,CYP4F12,SILENT,NM_023944.3:p.Pro460Pro/c.1380T>C,ccT/ccC,LOW,COSM3756401(1),0.241414,0.0139,rs688755,,,,,,chr19,15807305,15807305,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro460Pro/c.1380T>C|524|CYP4F12|protein_coding|CODING|NM_023944.3|12|1),non_coding_exon_variant(MODIFIER|||n.1721T>C||CYP4F12||CODING|NR_117085.1|10|1)",HepG2:H3K36me3,,,,0.2219,0.2421,0.2763,0.29,0.38,0.25,,,,,,,,,,,,,,,,
synonymous_variant,CYP4F12,SILENT,NM_023944.3:p.Leu504Leu/c.1510T>C,Ttg/Ctg,LOW,COSM3756402(1),0.241613,0.0139,rs593421,,,,,,chr19,15807830,15807830,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu504Leu/c.1510T>C|524|CYP4F12|protein_coding|CODING|NM_023944.3|13|1),non_coding_exon_variant(MODIFIER|||n.1851T>C||CYP4F12||CODING|NR_117085.1|11|1)","K562:Gabp,HepG2:H3K36me3",,,,0.2219,0.2421,0.2763,0.29,0.38,0.25,,,,,,,,,,,,,,,,
missense_variant,CYP4F12,MISSENSE,NM_023944.3:p.Ser522Gly/c.1564A>G,Agc/Ggc,MODERATE,COSM3756403(1),0.614217,0.7421,rs593818,1(T),0.0(B),0(N),-0.9611(T),,chr19,15807884,15807884,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser522Gly/c.1564A>G|524|CYP4F12|protein_coding|CODING|NM_023944.3|13|1),non_coding_exon_variant(MODIFIER|||n.1905A>G||CYP4F12||CODING|NR_117085.1|11|1)","K562:Gabp,HepG2:H3K36me3",,,,0.5818,0.647,0.5129,0.55,0.61,0.53,,0.239949(N),1.000(P),"-0.33,-0.33(T,T)",0.0000(T),0.029,-1.820459,2.23,-1.81,-0.642000,-0.729000,-1.458000,0.001000,0.000000,0.000000,3.753
missense_variant,OR10H2,MISSENSE,NM_013939.2:p.Leu40Gln/c.119T>A,cTg/cAg,MODERATE,COSM3756404(1),0.261581,0.0119,rs4569397,0.16(T),0.999(D),3.37(M),-0.9552(T),,chr19,15838972,15838972,T,A,hom,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu40Gln/c.119T>A|315|OR10H2|protein_coding|CODING|NM_013939.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.226,0.2752,0.3131,0.33,0.41,0.29,,0.001598(N),0.116(P),6.14(T),0.0000(T),0.259,3.146455,2.88,2.88,0.438000,1.186000,0.639000,0.990000,1.000000,0.000000,4.5583
synonymous_variant,OR10H2,SILENT,NM_013939.2:p.Ala76Ala/c.228C>T,gcC/gcT,LOW,COSM3756405(1),0.256989,0.0119,rs2067083,,,,,,chr19,15839081,15839081,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala76Ala/c.228C>T|315|OR10H2|protein_coding|CODING|NM_013939.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.2239,0.2709,0.3111,0.32,0.40,0.28,,,,,,,,,,,,,,,,
missense_variant,OR10H3,MISSENSE,NM_013938.1:p.Arg7Ser/c.21A>C,agA/agC,MODERATE,COSM1179781(3),0.65595,0.3323,rs1966357,0.39(T),0.0(B),-2.205(N),-1.0574(T),,chr19,15852223,15852223,A,C,hom,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg7Ser/c.21A>C|316|OR10H3|protein_coding|CODING|NM_013938.1|1|1),H1ESC:H3K9me3,,,,0.7178,0.598,0.7624,0.76,0.80,0.73,,0.035801(N),1.000(P),5.15(T),0.0000(T),0.012,0.154468,2.35,-1.7,-1.096000,-0.391000,-0.234000,0.067000,0.000000,0.000000,3.0412
missense_variant,OR10H3,MISSENSE,NM_013938.1:p.Arg54His/c.161G>A,cGc/cAc,MODERATE,COSM3756407(1),0.261182,0.0119,rs11670007,0.68(T),0.002(B),-0.15(N),-1.0073(T),,chr19,15852363,15852363,G,A,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg54His/c.161G>A|316|OR10H3|protein_coding|CODING|NM_013938.1|1|1),H1ESC:H3K9me3,,,,0.2239,0.2752,0.3131,0.33,0.41,0.29,,0.861532(N),1.000(P),5.36(T),0.0000(T),0.069,-1.816832,2.35,-4.7,-1.125000,-0.961000,-2.725000,0.114000,0.225000,0.000000,6.0643
synonymous_variant,OR10H3,SILENT,NM_013938.1:p.Phe114Phe/c.342C>T,ttC/ttT,LOW,,0.261382,0.0119,rs11670326,,,,,,chr19,15852544,15852544,C,T,hom,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe114Phe/c.342C>T|316|OR10H3|protein_coding|CODING|NM_013938.1|1|1),H1ESC:H3K9me3,,,,0.2239,0.2752,0.3131,0.33,0.41,0.29,,,,,,,,,,,,,,,,
synonymous_variant,OR10H3,SILENT,NM_013938.1:p.Ser316Ser/c.948C>T,tcC/tcT,LOW,COSM3756408(1),0.261382,0.0119,rs16980824,,,,,,chr19,15853150,15853150,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser316Ser/c.948C>T|316|OR10H3|protein_coding|CODING|NM_013938.1|1|1),,,,,0.2239,0.2752,0.3131,0.33,0.40,0.29,,,,,,,,,,,,,,,,
missense_variant,OR10H5,MISSENSE,NM_001004466.1:p.Lys186Gln/c.556A>C,Aag/Cag,MODERATE,,0.00259585,0,rs386421686,0.07(T),0.58(P),1.485(L),-0.9293(T),,chr19,15905414,15905414,A,C,het,missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys186Gln/c.556A>C|315|OR10H5|protein_coding|CODING|NM_001004466.1|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3",,,,0,0.0101,0.005,0.02,0.00,0.02,,0.000077(D),0.992(N),8.37(T),0.0003(T),0.116,2.019337,3.36,1.16,0.477000,0.052000,0.545000,0.431000,0.778000,0.001000,3.2481
missense_variant,OR10H5,MISSENSE,NM_001004466.1:p.Ser268Tyr/c.803C>A,tCt/tAt,MODERATE,COSM3756411(1),0.223842,0.002,rs67455341,0.01(D),0.905(P),2.78(M),-0.9755(T),,chr19,15905661,15905661,C,A,hom,missense_variant(MODERATE|MISSENSE|tCt/tAt|p.Ser268Tyr/c.803C>A|315|OR10H5|protein_coding|CODING|NM_001004466.1|1|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1431,0.2565,0.2952,0.29,0.37,0.25,,0.125583(N),1.000(P),8.34(T),0.0000(T),0.164,0.851648,3.88,2.73,0.585000,1.878000,0.184000,0.035000,0.019000,0.000000,9.6663
synonymous_variant,OR10H1,SILENT,NM_013940.2:p.Gly156Gly/c.468G>A,ggG/ggA,LOW,COSM118207(1),0.316494,0.0635,rs28426969,,,,,,chr19,15918380,15918380,C,T,hom,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly156Gly/c.468G>A|318|OR10H1|protein_coding|CODING|NM_013940.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.2076,0.3386,0.3857,0.40,0.50,0.35,,,,,,,,,,,,,,,,
missense_variant,CYP4F2,MISSENSE,NM_001082.4:p.Leu519Met/c.1555C>A,Ctg/Atg,MODERATE,,0.0623003,0,rs28371507,0.01(D),0.894(P),1.355(L),-0.9376(T),,chr19,15989589,15989589,G,T,het,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu519Met/c.1555C>A|520|CYP4F2|protein_coding|CODING|NM_001082.4|13|1),"GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.0225,0.0346,0.0567,0.08,0.13,0.06,,0.004109(U),0.000(P),-0.69(T),0.0032(T),0.066,2.596428,1.9,1.9,0.313000,1.360000,2.128000,0.667000,0.923000,0.996000,9.806
synonymous_variant,CYP4F2,SILENT,NM_001082.4:p.His343His/c.1029C>T,caC/caT,LOW,,0.233027,0.2222,rs2074900,0(D),0.009(B),,-0.9776(T),,chr19,15996820,15996820,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His343His/c.1029C>T|520|CYP4F2|protein_coding|CODING|NM_001082.4|9|1),"NHEK:H3K27me3,HeLa-S3:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.2536,0.2421,0.2972,0.27,0.19,0.31,,,0.000(P),1.8(T),0.0000(T),.,1.085048,2.63,1.49,0.313000,0.379000,2.531000,0.423000,0.969000,1.000000,5.1868
synonymous_variant,CYP4F11,SILENT,NM_001128932.1:p.Thr485Thr/c.1455C>G,acC/acG,LOW,COSM4131341(1),0.664137,0.4276,rs1064796,,,,,,chr19,16024662,16024662,G,C,hom,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr485Thr/c.1455C>G|524|CYP4F11|protein_coding|CODING|NM_001128932.1|13|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr485Thr/c.1455C>G|524|CYP4F11|protein_coding|CODING|NM_021187.3|12|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7004,0.6599,0.7575,0.76,0.74,0.76,,,,,,,,,,,,,,,,
missense_variant,CYP4F11,MISSENSE,NM_001128932.1:p.Asp446Asn/c.1336G>A,Gac/Aac,MODERATE,COSM4131342(1),0.5,0.381,rs1060463,0.07(T),0.172(B),0.805(L),-0.9167(T),,chr19,16025176,16025176,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp446Asn/c.1336G>A|524|CYP4F11|protein_coding|CODING|NM_001128932.1|12|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp446Asn/c.1336G>A|524|CYP4F11|protein_coding|CODING|NM_021187.3|11|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5552,0.5245,0.5835,0.55,0.46,0.60,,0.000641(U),0.088(P),"-0.34,-0.34(T,T)",0.0000(T),0.066,-0.729481,2.93,0.696,-2.048000,-0.168000,0.916000,0.001000,0.530000,0.433000,7.3839
missense_variant,CYP4F11,MISSENSE,NM_001128932.1:p.Cys276Arg/c.826T>C,Tgc/Cgc,MODERATE,COSM4131344(1),0.843251,0.9921,rs8104361,1(T),"0.0,0.0(B,B)",-1.515(N),-0.9700(T),,chr19,16034714,16034714,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys276Arg/c.826T>C|524|CYP4F11|protein_coding|CODING|NM_001128932.1|7|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys276Arg/c.826T>C|524|CYP4F11|protein_coding|CODING|NM_021187.3|6|1)","HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8681,0.8458,0.7922,0.79,0.76,0.80,,0.653991(N),1.000(P),"-0.17,-0.17,-0.17(T,T,T)",0.0000(T),0.071,-1.692610,2.67,1.6,-0.684000,0.037000,-0.368000,0.259000,0.103000,0.000000,2.6036
synonymous_variant,CYP4F11,SILENT,NM_001128932.1:p.Ile106Ile/c.318T>C,atT/atC,LOW,COSM4131345(1),0.492212,0.379,rs3765070,,,,,,chr19,16040292,16040292,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile106Ile/c.318T>C|524|CYP4F11|protein_coding|CODING|NM_001128932.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile106Ile/c.318T>C|524|CYP4F11|protein_coding|CODING|NM_021187.3|2|1)","HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5521,0.5216,0.5865,0.55,0.45,0.60,,,,,,,,,,,,,,,,
synonymous_variant,CYP4F11,SILENT,NM_001128932.1:p.Gly26Gly/c.78A>G,ggA/ggG,LOW,COSM4131346(1),0.789736,0.9921,rs2305801,,,,,,chr19,16045141,16045141,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly26Gly/c.78A>G|524|CYP4F11|protein_coding|CODING|NM_001128932.1|2|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly26Gly/c.78A>G|524|CYP4F11|protein_coding|CODING|NM_021187.3|1|1)","HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:DNase1,HMEC:DNase1,HMEC:H3K4me3",,,,0.8753,0.8184,0.7813,0.73,0.59,0.80,,,,,,,,,,,,,,,,
missense_variant,CIB3,MISSENSE,NM_054113.3:p.Gly139Glu/c.416G>A,gGg/gAg,MODERATE,,0.770966,0.9593,rs6512087,0.75(T),"0.001,0.001(B,B)",-1.16(N),-0.9663(T),,chr19,16275655,16275655,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly90Glu/c.269G>A|138|CIB3|protein_coding|CODING|NM_001300922.1|3|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly139Glu/c.416G>A|187|CIB3|protein_coding|CODING|NM_054113.3|5|1)",,,,,0.7751,0.83,0.7763,0.76,0.70,0.79,,0.000000(N),0.000(P),"-0.19,2.98(T,T)",0.0000(T),0.21,-0.844331,4.78,4.78,-0.521000,0.798000,6.024000,0.045000,1.000000,1.000000,9.9567
synonymous_variant,AP1M1,SILENT,NM_001130524.1:p.Ile353Ile/c.1059C>T,atC/atT,LOW,,0.452077,0.3641,rs3752797,,,,,,chr19,16339715,16339715,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile353Ile/c.1059C>T|435|AP1M1|protein_coding|CODING|NM_001130524.1|10|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile341Ile/c.1023C>T|423|AP1M1|protein_coding|CODING|NM_032493.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5644,0.585,0.7008,0.56,0.25,0.71,,,,,,,,,,,,,,,,
missense_variant,KLF2,MISSENSE,NM_016270.2:p.Leu104Pro/c.311T>C,cTg/cCg,MODERATE,COSM4131353(1),0.779353,0.4762,rs3745318,0.23(T),0.0(B),-0.895(N),-1.0826(T),,chr19,16436262,16436262,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu104Pro/c.311T>C|355|KLF2|protein_coding|CODING|NM_016270.2|2|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,CD4:PolII,CD4:Tip60,HSMM:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7515,0.8862,0.7684,0.84,0.95,0.79,,,0.003(P),3.08(T),0.0000(T),0.093,2.018989,1.81,0.561,-0.993000,-0.347000,1.789000,0.259000,0.610000,0.009000,3.8129
synonymous_variant,CALR3,SILENT,NM_145046.4:p.Tyr324Tyr/c.972C>T,taC/taT,LOW,COSM4131355(1),0.650559,0.628,rs9305079,,,,,,chr19,16591464,16591464,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr324Tyr/c.972C>T|384|CALR3|protein_coding|CODING|NM_145046.4|8|1),K562:H3K27me3,,,,0.7311,0.7493,0.6829,0.65,0.56,0.70,,,,,,,,,,,,,,,,
synonymous_variant,CALR3,SILENT,NM_145046.4:p.Thr287Thr/c.861G>A,acG/acA,LOW,,0.00539137,0,rs118131979,,,,,,chr19,16593318,16593318,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr287Thr/c.861G>A|384|CALR3|protein_coding|CODING|NM_145046.4|7|1),,,,,0.0051,0.0029,0.0189,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,CALR3,SILENT,NM_145046.4:p.Asp234Asp/c.702C>T,gaC/gaT,LOW,,0.144569,0.0992,rs10403020,,,,,,chr19,16593573,16593573,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp234Asp/c.702C>T|384|CALR3|protein_coding|CODING|NM_145046.4|6|1),,,,,0.1391,0.1182,0.1581,0.17,0.17,0.17,,,,,,,,,,,,,,,,
synonymous_variant,CALR3,SILENT,NM_145046.4:p.Gln127Gln/c.381G>A,caG/caA,LOW,COSM4000540(2),0.658946,0.627,rs3810198,,,,,,chr19,16601194,16601194,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln127Gln/c.381G>A|384|CALR3|protein_coding|CODING|NM_145046.4|3|1),,,,,0.7311,0.7493,0.6789,0.67,0.60,0.70,,,,,,,,,,,,,,,,
synonymous_variant,C19orf44,SILENT,NM_032207.3:p.Ala125Ala/c.375T>C,gcT/gcC,LOW,COSM3756426(2),0.365415,0.1736,rs728116,,,,,,chr19,16611978,16611978,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala125Ala/c.375T>C|625|C19orf44|protein_coding|CODING|NM_001288834.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala125Ala/c.375T>C|657|C19orf44|protein_coding|CODING|NM_032207.3|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.3386,0.3221,0.41,0.61,0.31,,,,,,,,,,,,,,,,
synonymous_variant,C19orf44,SILENT,NM_032207.3:p.Ser136Ser/c.408T>C,tcT/tcC,LOW,COSM3756427(2),0.366414,0.1736,rs728117,,,,,,chr19,16612011,16612011,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser136Ser/c.408T>C|625|C19orf44|protein_coding|CODING|NM_001288834.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser136Ser/c.408T>C|657|C19orf44|protein_coding|CODING|NM_032207.3|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.3415,0.3221,0.41,0.61,0.31,,,,,,,,,,,,,,,,
synonymous_variant,CHERP,SILENT,NM_006387.5:p.Pro631Pro/c.1893A>G,ccA/ccG,LOW,COSM1750704(2),0.893371,0.7212,rs1043481,,,,,,chr19,16633950,16633950,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro631Pro/c.1893A>G|916|CHERP|protein_coding|CODING|NM_006387.5|11|1),downstream_gene_variant(MODIFIER||1770||657|C19orf44|protein_coding|CODING|NM_032207.3||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9438,0.8948,0.8797,0.94,0.98,0.92,,,,,,,,,,,,,,,,
synonymous_variant,CHERP,SILENT,NM_006387.5:p.Glu348Glu/c.1044G>A,gaG/gaA,LOW,,0.0357428,0,rs58473148,,,,,,chr19,16640544,16640544,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu348Glu/c.1044G>A|916|CHERP|protein_coding|CODING|NM_006387.5|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0082,0.0245,0.0239,0.04,0.07,0.03,,,,,,,,,,,,,,,,
synonymous_variant,SLC35E1,SILENT,NM_024881.4:p.Pro288Pro/c.864C>G,ccC/ccG,LOW,COSM4131362(1),0.402556,0.5149,rs2287869,,,,,,chr19,16666101,16666101,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro288Pro/c.864C>G|410|SLC35E1|protein_coding|CODING|NM_024881.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5716,0.5058,0.5368,0.42,0.12,0.57,,,,,,,,,,,,,,,,
missense_variant,NWD1,MISSENSE,NM_001007525.3:p.Cys15Phe/c.44G>T,tGc/tTc,MODERATE,COSM3822223(5),0.495208,0.2619,rs8107776,0.76(T),0.0(B),0(N),-0.9382(T),,chr19,16842052,16842052,G,T,hom,"missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys15Phe/c.44G>T|1432|NWD1|protein_coding|CODING|NM_001007525.3|3|1),5_prime_UTR_variant(MODIFIER||13816|c.-791G>T|1429|NWD1|protein_coding|CODING|NM_001290355.1|4|1)",GM12878:H3K36me3,,,,0.5051,0.3718,0.6133,,,,,0.411842(N),0.000(P),"0.52,0.58,0.52,0.58(T,T,T,T)",0.0000(T),0.286,0.683798,4.68,-2.14,0.437000,-0.140000,0.024000,0.470000,0.418000,0.993000,2.026
missense_variant,NWD1,MISSENSE,NM_001007525.3:p.Ala218Thr/c.652G>A,Gct/Act,MODERATE,,0.984425,0.9256,rs706764,1(T),"0.0,0.0,0.0(B,B,B)",-0.805(N),-0.9826(T),,chr19,16860105,16860105,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala218Thr/c.652G>A|1432|NWD1|protein_coding|CODING|NM_001007525.3|6|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala83Thr/c.247G>A|1429|NWD1|protein_coding|CODING|NM_001290355.1|7|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.999,0.9986,1,1.00,1.00,1.00,,0.968551(N),1.000(P),"1.98,1.98,1.98,0.47,1.98,0.58(T,T,T,T,T,T)",0.0000(T),0.024,-2.543284,4.22,0.857,-1.514000,-0.134000,0.697000,0.034000,0.096000,0.194000,7.3786
synonymous_variant,NWD1,SILENT,NM_001007525.3:p.Leu708Leu/c.2124G>A,ttG/ttA,LOW,COSM3756430(1),0.39976,0.1895,rs386612853,,,,,,chr19,16872940,16872940,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu708Leu/c.2124G>A|1432|NWD1|protein_coding|CODING|NM_001007525.3|8|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu573Leu/c.1719G>A|1429|NWD1|protein_coding|CODING|NM_001290355.1|9|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4223,0.2709,0.3917,0.46,0.57,0.40,,,,,,,,,,,,,,,,
missense_variant,NWD1,MISSENSE,NM_001007525.3:p.Asn926Ile/c.2777A>T,aAc/aTc,MODERATE,,0.998203,0.9911,rs2608737,0.65(T),"0.0,0.0,0.0(B,B,B)",-2.51(N),-0.9423(T),,chr19,16899838,16899838,A,T,hom,"missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn926Ile/c.2777A>T|1432|NWD1|protein_coding|CODING|NM_001007525.3|13|1),missense_variant(MODERATE|MISSENSE|aAc/aTc|p.Asn791Ile/c.2372A>T|1429|NWD1|protein_coding|CODING|NM_001290355.1|14|1)",,,,,1,1,1,1.00,1.00,1.00,,0.011798(N),1.000(P),"0.41,0.41,0.41,0.41,0.41,0.41(T,T,T,T,T,T)",0.0000(T),0.118,-1.359328,5.65,5.65,-0.336000,0.970000,2.852000,0.040000,0.771000,1.000000,9.108
missense_variant,NWD1,MISSENSE,NM_001007525.3:p.Glu1311Asp/c.3933G>T,gaG/gaT,MODERATE,,0.00299521,0,rs146553378,0.77(T),"0.82,0.996,0.991(P,D,D)",1.61(L),-0.7507(T),,chr19,16918593,16918593,G,T,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1311Asp/c.3933G>T|1432|NWD1|protein_coding|CODING|NM_001007525.3|18|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1176Asp/c.3528G>T|1429|NWD1|protein_coding|CODING|NM_001290355.1|19|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.002,0.0043,0.0099,0.01,0.00,0.01,,0.000000(D),0.884(N),"-0.16,-0.45,-0.16,2.28,1.59,2.28(T,T,T,T,T,T)",0.2449(T),0.591,1.931079,4.95,3.68,0.655000,2.282000,1.520000,0.045000,0.735000,1.000000,7.6386
synonymous_variant,SIN3B,SILENT,NM_015260.3:p.Leu515Leu/c.1545A>G,ctA/ctG,LOW,,0.998203,0.9911,rs773911,,,,,,chr19,16976286,16976286,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu483Leu/c.1449A>G|1130|SIN3B|protein_coding|CODING|NM_001297595.1|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu73Leu/c.219A>G|720|SIN3B|protein_coding|CODING|NM_001297597.1|2|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu515Leu/c.1545A>G|1162|SIN3B|protein_coding|CODING|NM_015260.3|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SIN3B,SILENT,NM_015260.3:p.Ser516Ser/c.1548T>C,tcT/tcC,LOW,COSM3756434(2),0.158147,0.2778,rs2303091,,,,,,chr19,16976289,16976289,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser484Ser/c.1452T>C|1130|SIN3B|protein_coding|CODING|NM_001297595.1|11|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser74Ser/c.222T>C|720|SIN3B|protein_coding|CODING|NM_001297597.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser516Ser/c.1548T>C|1162|SIN3B|protein_coding|CODING|NM_015260.3|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.18,0.2104,0.162,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,F2RL3,MISSENSE,NM_003950.2:p.Ala120Thr/c.358G>A,Gct/Act,MODERATE,COSM3749474(7),0.342053,0.2371,rs773902,0.2(T),0.34(B),1.59(L),-0.9228(T),,chr19,17000632,17000632,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala120Thr/c.358G>A|385|F2RL3|protein_coding|CODING|NM_003950.2|2|1),"K562:H3K4me3,K562:PolII,K562:H3K27ac,GM12878:H3K4me3,K562:Cmyc,K562:E2F6,K562:H3K9ac,K562:H3K79me2,GM06990:H3K36me3,K562:H3K4me2,K562:Srf,K562:DNase1,GM12878:Sin3Ak20",,,,0.2577,0.2911,0.2058,0.32,0.54,0.20,,0.235519(U),1.000(P),1.18(T),0.0000(T),0.053,0.896247,4.3,0.917,-0.336000,0.003000,1.267000,0.142000,0.001000,0.002000,5.4574
missense_variant,CPAMD8,MISSENSE,NM_015692.2:p.Gln1890Arg/c.5669A>G,cAg/cGg,MODERATE,COSM3756435(1),0.211462,0.126,rs1054533,0.85(T),0.0(B),0(N),-0.9407(T),,chr19,17004049,17004049,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1890Arg/c.5669A>G|1932|CPAMD8|protein_coding|CODING|NM_015692.2|42|1),downstream_gene_variant(MODIFIER||1219||385|F2RL3|protein_coding|CODING|NM_003950.2||1)","K562:PolII,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.2699,0.2968,0.333,0.27,0.13,0.33,,,1.000(P),,0.0000(T),0.04,-0.479931,0.871,-1.74,-2.753000,-2.277000,-2.459000,0.000000,0.000000,0.000000,6.3721
synonymous_variant,CPAMD8,SILENT,NM_015692.2:p.Thr1710Thr/c.5130C>G,acC/acG,LOW,COSM438855(4),0.564896,0.3016,rs2608732,,,,-1.0190(T),,chr19,17008578,17008578,G,C,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr1710Thr/c.5130C>G|1932|CPAMD8|protein_coding|CODING|NM_015692.2|39|1),"K562:ZBTB7A,K562:Max,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.5225,0.5879,0.5368,0.61,0.76,0.53,,,0.000(P),,0.0000(T),.,0.708800,3.08,0.431,-0.383000,-0.071000,-0.200000,0.484000,0.464000,0.814000,3.4734
missense_variant,CPAMD8,MISSENSE,NM_015692.2:p.Ala1351Val/c.4052C>T,gCg/gTg,MODERATE,COSM438858(2),0.190096,0.2431,rs56408444,1(T),0.005(B),0(N),-0.9303(T),,chr19,17017878,17017878,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala1351Val/c.4052C>T|1932|CPAMD8|protein_coding|CODING|NM_015692.2|30|1),,,,,0.2198,0.3401,0.2217,0.15,0.05,0.20,,0.316189(N),1.000(P),,0.0000(T),0.066,-0.826442,3.07,-4.18,0.536000,-0.651000,1.347000,0.002000,0.000000,0.055000,6.1572
missense_variant,CPAMD8,MISSENSE,NM_015692.2:p.Met368Ile/c.1104G>A,atG/atA,MODERATE,,0.178315,0.1012,rs12974937,0.33(T),0.007(B),-0.55(N),-0.9406(T),,chr19,17108053,17108053,C,T,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met368Ile/c.1104G>A|1932|CPAMD8|protein_coding|CODING|NM_015692.2|11|1),H1ESC:H3K36me3,,,,0.0869,0.1009,0.159,0.20,0.31,0.15,,0.014647(N),1.000(P),"0.74,0.75(T,T)",0.0000(T),0.136,-0.141438,3.0,-3.97,-1.164000,-1.305000,-4.497000,0.083000,0.001000,0.000000,1.2097
missense_variant,CPAMD8,MISSENSE,NM_015692.2:p.Met312Thr/c.935T>C,aTg/aCg,MODERATE,COSM4000542(1),0.748403,0.6845,rs4808551,0.86(T),0.0(B),-1.725(N),-1.0032(T),,chr19,17111297,17111297,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met312Thr/c.935T>C|1932|CPAMD8|protein_coding|CODING|NM_015692.2|10|1),,,,,0.6002,0.7824,0.832,0.82,0.83,0.82,,0.378831(N),1.000(P),"0.92,0.94(T,T)",0.0000(T),0.18,-3.651325,2.55,-2.0,-2.912000,-0.520000,0.738000,0.001000,0.009000,0.606000,9.7566
synonymous_variant,CPAMD8,SILENT,NM_015692.2:p.Phe276Phe/c.828T>C,ttT/ttC,LOW,,0.185503,0.121,rs3745345,,,,-0.9374(T),,chr19,17113147,17113147,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe276Phe/c.828T>C|1932|CPAMD8|protein_coding|CODING|NM_015692.2|9|1),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK20ac,K562:H3K27me3,NHEK:H3K27me3,CD4:H2BK120ac",,,,0.091,0.0994,0.1471,0.20,0.32,0.14,,,0.000(P),,0.0000(T),.,-0.564591,2.46,1.39,-1.305000,-0.386000,2.475000,0.227000,0.582000,1.000000,8.3204
synonymous_variant,MYO9B,SILENT,NM_004145.3:p.Leu544Leu/c.1632G>T,ctG/ctT,LOW,,0.748203,0.7312,rs7256689,,,,,,chr19,17273893,17273893,G,T,hom,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu544Leu/c.1632G>T|2022|MYO9B|protein_coding|CODING|NM_001130065.1|10|1),synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu544Leu/c.1632G>T|2157|MYO9B|protein_coding|CODING|NM_004145.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5818,0.7406,0.6501,0.74,0.92,0.66,,,,,,,,,,,,,,,,
missense_variant,MYO9B,MISSENSE,NM_004145.3:p.Ser1011Ala/c.3031T>G,Tca/Gca,MODERATE,COSM438871(3),0.644369,0.7391,rs1545620,1(T),"0.001,0.001,0.0(B,B,B)",-1.59(N),-0.9362(T),,chr19,17303774,17303774,T,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser1011Ala/c.3031T>G|2022|MYO9B|protein_coding|CODING|NM_001130065.1|21|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser1011Ala/c.3031T>G|2157|MYO9B|protein_coding|CODING|NM_004145.3|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5695,0.7032,0.3897,0.52,0.75,0.42,,0.648098(N),1.000(P),2.01(T),0.0000(T),0.026,-2.214157,4.88,-1.46,-0.721000,0.092000,0.668000,0.020000,0.043000,0.000000,0.9756
synonymous_variant,MYO9B,SILENT,NM_004145.3:p.Gly1068Gly/c.3204T>C,ggT/ggC,LOW,COSM3756442(1),0.644169,0.7401,rs1064305,,,,,,chr19,17305440,17305440,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1068Gly/c.3204T>C|2022|MYO9B|protein_coding|CODING|NM_001130065.1|22|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1068Gly/c.3204T>C|2157|MYO9B|protein_coding|CODING|NM_004145.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5685,0.7046,0.3877,0.51,0.73,0.40,,,,,,,,,,,,,,,,
synonymous_variant,MYO9B,SILENT,NM_004145.3:p.Pro1265Pro/c.3795T>C,ccT/ccC,LOW,COSM4131371(1),0.759185,0.745,rs2279003,,,,,,chr19,17306031,17306031,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1265Pro/c.3795T>C|2022|MYO9B|protein_coding|CODING|NM_001130065.1|22|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1265Pro/c.3795T>C|2157|MYO9B|protein_coding|CODING|NM_004145.3|22|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.8012,0.5676,0.69,0.92,0.59,,,,,,,,,,,,,,,,
synonymous_variant,MYO9B,SILENT,NM_004145.3:p.Val1572Val/c.4716C>T,gtC/gtT,LOW,,0.600439,0.746,rs2305765,,,,,,chr19,17312992,17312992,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1572Val/c.4716C>T|2022|MYO9B|protein_coding|CODING|NM_001130065.1|28|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val1572Val/c.4716C>T|2157|MYO9B|protein_coding|CODING|NM_004145.3|28|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.6729,0.3897,0.44,0.54,0.40,,,,,,,,,,,,,,,,
missense_variant,MYO9B,MISSENSE,NM_004145.3:p.Val1693Ala/c.5078T>C,gTt/gCt,MODERATE,COSM438878(3),0.631589,0.746,rs7248508,0.93(T),"0.0,0.0,0.0(B,B,B)",-1.5(N),-0.9525(T),,chr19,17316782,17316782,T,C,het,"missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1693Ala/c.5078T>C|2022|MYO9B|protein_coding|CODING|NM_001130065.1|32|1),missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val1693Ala/c.5078T>C|2157|MYO9B|protein_coding|CODING|NM_004145.3|32|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6247,0.6772,0.3917,0.48,0.65,0.40,,0.011484(N),1.000(P),-1.85(D),0.0000(T),0.051,-0.277158,4.74,4.74,-0.215000,1.136000,1.204000,0.005000,0.039000,0.001000,10.8777
synonymous_variant,MYO9B,SILENT,NM_004145.3:p.Ser1842Ser/c.5526A>G,tcA/tcG,LOW,COSM438882(2),0.63139,0.746,rs8110964,,,,,,chr19,17317955,17317955,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1842Ser/c.5526A>G|2022|MYO9B|protein_coding|CODING|NM_001130065.1|35|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1842Ser/c.5526A>G|2157|MYO9B|protein_coding|CODING|NM_004145.3|35|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6237,0.6772,0.3926,0.48,0.65,0.39,,,,,,,,,,,,,,,,
missense_variant,USE1,MISSENSE,NM_018467.3:p.Leu154Ser/c.461T>C,tTg/tCg,MODERATE,,0.984824,0.9315,rs414528,0.82(T),0.0(B),-2.075(N),-0.9617(T),,chr19,17330060,17330060,T,C,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu154Ser/c.461T>C|259|USE1|protein_coding|CODING|NM_018467.3|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9914,1,1.00,1.00,1.00,,0.000000(N),0.000(P),"1.18,1.18(T,T)",0.0000(T),0.201,0.280423,4.73,4.73,-0.320000,1.013000,4.781000,0.615000,0.980000,1.000000,12.2035
synonymous_variant,OCEL1,SILENT,NM_024578.1:p.Thr41Thr/c.123C>A,acC/acA,LOW,COSM3749477(10),0.228834,0.4018,rs3745163,,,,,,chr19,17337555,17337555,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr41Thr/c.123C>A|264|OCEL1|protein_coding|CODING|NM_024578.1|2|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,0.1411,0.2522,0.2018,0.18,0.16,0.19,,,,,,,,,,,,,,,,
synonymous_variant,USHBP1,SILENT,NM_031941.3:p.Pro694Pro/c.2082G>A,ccG/ccA,LOW,COSM3756448(3),0.124401,0.002,rs10415471,,,,,,chr19,17361064,17361064,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro630Pro/c.1890G>A|639|USHBP1|protein_coding|CODING|NM_001297703.1|12|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro694Pro/c.2082G>A|703|USHBP1|protein_coding|CODING|NM_031941.3|13|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.1309,0.0994,0.1759,0.20,0.21,0.19,,,,,,,,,,,,,,,,
synonymous_variant,USHBP1,SILENT,NM_031941.3:p.Ala536Ala/c.1608A>G,gcA/gcG,LOW,COSM4131384(1),0.779353,0.7996,rs4430871,,,,,,chr19,17366278,17366278,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala472Ala/c.1416A>G|639|USHBP1|protein_coding|CODING|NM_001297703.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala536Ala/c.1608A>G|703|USHBP1|protein_coding|CODING|NM_031941.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:USF1,HepG2:DNase1",,,,0.7025,0.7709,0.5805,0.71,0.92,0.60,,,,,,,,,,,,,,,,
synonymous_variant,BABAM1,SILENT,NM_001033549.2:p.Lys279Lys/c.837G>A,aaG/aaA,LOW,COSM438891(2),0.11242,0.001,rs8170,,,,,,chr19,17389704,17389704,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys279Lys/c.837G>A|329|BABAM1|protein_coding|CODING|NM_001033549.2|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys279Lys/c.837G>A|329|BABAM1|protein_coding|CODING|NM_001288756.1|9|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys204Lys/c.612G>A|254|BABAM1|protein_coding|CODING|NM_001288757.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys279Lys/c.837G>A|329|BABAM1|protein_coding|CODING|NM_014173.3|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3","Breast_cancer,Ovarian_cancer,Ovarian_cancer,Breast_Cancer_in_BRCA1_mutation_carriers,Breast_cancer,Ovarian_cancer",,,0.0879,0.0951,0.163,0.18,0.18,0.18,,,,,,,,,,,,,,,,
missense_variant,ANKLE1,MISSENSE,NM_152363.5:p.Ala85Thr/c.253G>A,Gcg/Acg,MODERATE,COSM438894(13),0.427316,0.3115,rs8100241,0.1(T),"0.302,0.998,0.884(B,D,P)",2.885(M),-0.9117(T),,chr19,17392894,17392894,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala74Thr/c.220G>A|632|ANKLE1|protein_coding|CODING|NM_001278443.1|2|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala85Thr/c.253G>A|651|ANKLE1|protein_coding|CODING|NM_001278444.1|2|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala85Thr/c.253G>A|669|ANKLE1|protein_coding|CODING|NM_152363.5|2|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala53Thr/c.157G>A|611|ANKLE1|protein_coding|CODING|NM_001278445.1|2|1),non_coding_exon_variant(MODIFIER|||n.367G>A||ANKLE1||CODING|NR_103530.1|2|1)","K562:ZBTB7A,K562:Max,K562:PolII,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,GM12878:PolII,GM06990:DNase1",Breast_cancer,,,0.4898,0.3761,0.5716,0.44,0.37,0.47,,0.000109(D),1.000(P),"-0.52,-0.52,-0.52(T,T,T)",0.0000(T),0.409,2.747219,4.06,1.65,0.484000,0.873000,5.063000,0.084000,0.273000,0.981000,6.5304
missense_variant,ANKLE1,MISSENSE,NM_152363.5:p.Ala125Val/c.374C>T,gCt/gTt,MODERATE,COSM3756451(6),0.635383,0.3125,rs1864116,0.47(T),"0.016,0.015,0.019(B,B,B)",0.61(N),-1.0069(T),,chr19,17393015,17393015,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala114Val/c.341C>T|632|ANKLE1|protein_coding|CODING|NM_001278443.1|2|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala125Val/c.374C>T|651|ANKLE1|protein_coding|CODING|NM_001278444.1|2|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala125Val/c.374C>T|669|ANKLE1|protein_coding|CODING|NM_152363.5|2|1),missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala93Val/c.278C>T|611|ANKLE1|protein_coding|CODING|NM_001278445.1|2|1),non_coding_exon_variant(MODIFIER|||n.488C>T||ANKLE1||CODING|NR_103530.1|2|1)","K562:ZBTB7A,K562:PolII,H1ESC:TAF1,GM12878:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,GM06990:H3K4me3,NHEK:H3K27me3,GM12878:PolII,GM12878:H3K4me2,GM06990:DNase1,K562:DNase1",,,,0.6022,0.5533,0.834,0.87,0.86,0.87,,0.114285(N),1.000(P),"-0.29,-0.29,-0.29(T,T,T)",0.0000(T),0.141,3.054076,4.15,0.796,0.555000,0.078000,0.606000,0.842000,0.527000,0.002000,6.1339
synonymous_variant,ANKLE1,SILENT,NM_152363.5:p.Ala139Ala/c.417G>C,gcG/gcC,LOW,COSM3749479(6),0.635383,0.3135,rs1864113,,,,,,chr19,17393504,17393504,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala128Ala/c.384G>C|632|ANKLE1|protein_coding|CODING|NM_001278443.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala139Ala/c.417G>C|651|ANKLE1|protein_coding|CODING|NM_001278444.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala107Ala/c.321G>C|611|ANKLE1|protein_coding|CODING|NM_001278445.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala139Ala/c.417G>C|669|ANKLE1|protein_coding|CODING|NM_152363.5|3|1),non_coding_exon_variant(MODIFIER|||n.531G>C||ANKLE1||CODING|NR_103530.1|3|1)","NHEK:CTCF,CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,K562:PolII,GM12878:H3K4me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,HMEC:CTCF,HUVEC:H3K4me2,GM12878:EBF,K562:E2F6,NHEK:H3K27me3,NH-A:CTCF,HeLa-S3:Ap2alpha,GM12878:PolII,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HepG2:DNase1,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.6012,0.5533,0.834,0.84,0.84,0.84,,,,,,,,,,,,,,,,
missense_variant,ANKLE1,MISSENSE,NM_152363.5:p.Leu148Gln/c.443T>A,cTg/cAg,MODERATE,COSM3749483(14),0.460663,0.3115,rs8108174,0.05(D),"0.426,0.999,0.999(B,D,D)",1.96(M),-0.8672(T),,chr19,17393530,17393530,T,A,het,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu137Gln/c.410T>A|632|ANKLE1|protein_coding|CODING|NM_001278443.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu148Gln/c.443T>A|651|ANKLE1|protein_coding|CODING|NM_001278444.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu116Gln/c.347T>A|611|ANKLE1|protein_coding|CODING|NM_001278445.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu148Gln/c.443T>A|669|ANKLE1|protein_coding|CODING|NM_152363.5|3|1),non_coding_exon_variant(MODIFIER|||n.557T>A||ANKLE1||CODING|NR_103530.1|3|1)","NHEK:CTCF,CD4:H3K9me1,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,K562:PolII,GM12878:H3K4me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,HMEC:CTCF,HUVEC:H3K4me2,GM12878:EBF,K562:E2F6,NHEK:H3K27me3,NH-A:CTCF,HeLa-S3:Ap2alpha,GM12878:PolII,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,GM06990:H3K36me3,GM12878:H3K4me2,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.4888,0.3905,0.5726,0.57,0.56,0.57,,0.000624(D),0.002(P),"-0.44,-0.44,-0.44(T,T,T)",0.0000(T),0.463,3.387803,4.27,4.27,0.459000,1.800000,4.664000,0.070000,0.997000,1.000000,11.4078
missense_variant,ANKLE1,MISSENSE,NM_152363.5:p.Leu238Trp/c.713T>G,tTg/tGg,MODERATE,COSM3756454(2),0.460663,0.3115,rs2363956,0.22(T),"0.066,0.998,0.997(B,D,D)",0.975(L),-0.9334(T),,chr19,17394124,17394124,T,G,het,"missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu227Trp/c.680T>G|632|ANKLE1|protein_coding|CODING|NM_001278443.1|5|1),missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu238Trp/c.713T>G|651|ANKLE1|protein_coding|CODING|NM_001278444.1|5|1),missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu206Trp/c.617T>G|611|ANKLE1|protein_coding|CODING|NM_001278445.1|5|1),missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu238Trp/c.713T>G|669|ANKLE1|protein_coding|CODING|NM_152363.5|5|1),non_coding_exon_variant(MODIFIER|||n.827T>G||ANKLE1||CODING|NR_103530.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3,GM06990:H3K36me3",Ovarian_cancer,,,0.4898,0.3905,0.5726,0.51,0.50,0.52,,0.057120(U),1.000(P),"-0.74,-0.85,-0.83(T,T,T)",0.0000(T),0.464,2.973793,3.28,2.26,0.260000,1.505000,0.409000,0.220000,0.032000,0.000000,4.588
missense_variant,ANKLE1,MISSENSE,NM_152363.5:p.Thr365Pro/c.1093A>C,Acc/Ccc,MODERATE,COSM4000550(1),0.635383,0.3135,rs891017,0.59(T),"0.0,0.0,0.0(B,B,B)",-0.55(N),-0.9724(T),,chr19,17394504,17394504,A,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr354Pro/c.1060A>C|632|ANKLE1|protein_coding|CODING|NM_001278443.1|5|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr365Pro/c.1093A>C|651|ANKLE1|protein_coding|CODING|NM_001278444.1|5|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr333Pro/c.997A>C|611|ANKLE1|protein_coding|CODING|NM_001278445.1|5|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr365Pro/c.1093A>C|669|ANKLE1|protein_coding|CODING|NM_152363.5|5|1),non_coding_exon_variant(MODIFIER|||n.1207A>C||ANKLE1||CODING|NR_103530.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6012,0.5533,0.834,0.80,0.79,0.81,,0.000971(N),1.000(P),"-0.32,-0.4,-0.52(T,T,T)",0.0000(T),0.407,0.322634,2.86,0.314,-0.648000,0.100000,-0.519000,0.048000,0.008000,0.000000,5.6592
missense_variant,ANKLE1,MISSENSE,NM_152363.5:p.Gln489Arg/c.1466A>G,cAg/cGg,MODERATE,COSM4000552(2),0.635184,0.3125,rs11086065,1(T),"0.002,0.002,0.001(B,B,B)",0.215(N),-0.9626(T),,chr19,17395003,17395003,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln452Arg/c.1355A>G|632|ANKLE1|protein_coding|CODING|NM_001278443.1|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln463Arg/c.1388A>G|651|ANKLE1|protein_coding|CODING|NM_001278444.1|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln431Arg/c.1292A>G|611|ANKLE1|protein_coding|CODING|NM_001278445.1|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln489Arg/c.1466A>G|669|ANKLE1|protein_coding|CODING|NM_152363.5|6|1),intron_variant(MODIFIER|||n.1396+310A>G||ANKLE1||CODING|NR_103530.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.6012,0.5533,0.834,0.80,0.79,0.81,,0.635502(N),0.816(P),-0.54(T),0.0000(T),0.252,-1.772580,5.05,-7.51,-2.896000,-1.998000,-0.067000,0.014000,0.000000,0.260000,16.2971
synonymous_variant,ANKLE1,SILENT,NM_152363.5:p.Thr506Thr/c.1518C>G,acC/acG,LOW,COSM4131398(1),0.635383,0.3135,rs11882562,,,,,,chr19,17395055,17395055,C,G,hom,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr469Thr/c.1407C>G|632|ANKLE1|protein_coding|CODING|NM_001278443.1|6|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr480Thr/c.1440C>G|651|ANKLE1|protein_coding|CODING|NM_001278444.1|6|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr448Thr/c.1344C>G|611|ANKLE1|protein_coding|CODING|NM_001278445.1|6|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr506Thr/c.1518C>G|669|ANKLE1|protein_coding|CODING|NM_152363.5|6|1),intron_variant(MODIFIER|||n.1396+362C>G||ANKLE1||CODING|NR_103530.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.6012,0.5533,0.834,0.80,0.79,0.81,,,,,,,,,,,,,,,,
synonymous_variant,ANKLE1,SILENT,NM_152363.5:p.Gly586Gly/c.1758T>C,ggT/ggC,LOW,COSM4131401(1),0.635383,0.3135,rs751599,,,,,,chr19,17396549,17396549,T,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly549Gly/c.1647T>C|632|ANKLE1|protein_coding|CODING|NM_001278443.1|8|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly528Gly/c.1584T>C|611|ANKLE1|protein_coding|CODING|NM_001278445.1|8|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly586Gly/c.1758T>C|669|ANKLE1|protein_coding|CODING|NM_152363.5|8|1),intron_variant(MODIFIER|||c.1620+150T>C|651|ANKLE1|protein_coding|CODING|NM_001278444.1|7|1),non_coding_exon_variant(MODIFIER|||n.1616T>C||ANKLE1||CODING|NR_103530.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.6012,0.5519,0.834,0.80,0.79,0.81,,,,,,,,,,,,,,,,
missense_variant,ANKLE1,MISSENSE,NM_001278444.1:p.Ala559Val/c.1676C>T,gCt/gTt,MODERATE,COSM3756458(1),0.0986422,0.001,rs10425939,0.03(D),0.039(B),,-1.0774(T),,chr19,17397244,17397244,C,T,het,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala559Val/c.1676C>T|651|ANKLE1|protein_coding|CODING|NM_001278444.1|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly594Gly/c.1782C>T|632|ANKLE1|protein_coding|CODING|NM_001278443.1|9|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly573Gly/c.1719C>T|611|ANKLE1|protein_coding|CODING|NM_001278445.1|9|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly631Gly/c.1893C>T|669|ANKLE1|protein_coding|CODING|NM_152363.5|9|1),non_coding_exon_variant(MODIFIER|||n.1751C>T||ANKLE1||CODING|NR_103530.1|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.089,0.0908,0.163,0.17,0.15,0.18,,,0.000(P),,0.0002(T),.,1.261737,5.42,2.04,0.491000,0.227000,0.390000,0.978000,0.452000,0.040000,4.6632
missense_variant,ANKLE1,MISSENSE,NM_001278444.1:p.Cys638Phe/c.1913G>T,tGt/tTt,MODERATE,,,,rs1465581,,0.002(B),,-0.9366(T),,chr19,17397481,17397481,G,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys638Phe/c.1913G>T|651|ANKLE1|protein_coding|CODING|NM_001278444.1|8|1),3_prime_UTR_variant(MODIFIER||120|c.*120G>T|632|ANKLE1|protein_coding|CODING|NM_001278443.1|9|1),3_prime_UTR_variant(MODIFIER||120|c.*120G>T|611|ANKLE1|protein_coding|CODING|NM_001278445.1|9|1),3_prime_UTR_variant(MODIFIER||120|c.*120G>T|669|ANKLE1|protein_coding|CODING|NM_152363.5|9|1),non_coding_exon_variant(MODIFIER|||n.1988G>T||ANKLE1||CODING|NR_103530.1|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,0.000(P),,0.0000(T),.,0.704636,2.24,0.888,0.460000,1.199000,-0.865000,0.142000,0.431000,0.145000,5.857
missense_variant,ANKLE1,MISSENSE,NM_001278444.1:p.Val639Leu/c.1915G>T,Gtg/Ttg,MODERATE,,,,rs367668712,,0.024(B),,-1.0755(T),,chr19,17397483,17397483,G,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val639Leu/c.1915G>T|651|ANKLE1|protein_coding|CODING|NM_001278444.1|8|1),3_prime_UTR_variant(MODIFIER||122|c.*122G>T|632|ANKLE1|protein_coding|CODING|NM_001278443.1|9|1),3_prime_UTR_variant(MODIFIER||122|c.*122G>T|611|ANKLE1|protein_coding|CODING|NM_001278445.1|9|1),3_prime_UTR_variant(MODIFIER||122|c.*122G>T|669|ANKLE1|protein_coding|CODING|NM_152363.5|9|1),non_coding_exon_variant(MODIFIER|||n.1990G>T||ANKLE1||CODING|NR_103530.1|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,0.0664(T),.,0.676724,2.24,-0.708,0.460000,0.226000,0.998000,0.134000,0.415000,0.206000,2.9012
synonymous_variant,ABHD8,SILENT,NM_024527.4:p.Ala20Ala/c.60C>T,gcC/gcT,LOW,COSM3756459(1),0.237021,0.1319,rs11086066,,,,,,chr19,17412366,17412366,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala20Ala/c.60C>T|439|ABHD8|protein_coding|CODING|NM_024527.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.408,0.2277,0.325,0.25,0.16,0.29,,,,,,,,,,,,,,,,
synonymous_variant,ABHD8,SILENT,NM_024527.4:p.Ile9Ile/c.27C>T,atC/atT,LOW,,0.238618,0.1319,rs11086067,,,,,,chr19,17412399,17412399,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile9Ile/c.27C>T|439|ABHD8|protein_coding|CODING|NM_024527.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.409,0.2277,0.329,0.24,0.16,0.29,,,,,,,,,,,,,,,,
synonymous_variant,ANO8,SILENT,NM_020959.2:p.Ala1146Ala/c.3438A>C,gcA/gcC,LOW,COSM4131405(2),0.61861,0.2897,rs12977101,,,,,,chr19,17434587,17434587,T,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala1146Ala/c.3438A>C|1232|ANO8|protein_coding|CODING|NM_020959.2|18|1),downstream_gene_variant(MODIFIER||481||102|DDA1|protein_coding|CODING|NM_024050.5||1)","H1ESC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6207,0.487,0.7227,,,,,,,,,,,,,,,,,,,
synonymous_variant,ANO8,SILENT,NM_020959.2:p.Ser991Ser/c.2973A>G,tcA/tcG,LOW,COSM4000554(1),0.61881,0.2897,rs755123,,,,,,chr19,17435884,17435884,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser991Ser/c.2973A>G|1232|ANO8|protein_coding|CODING|NM_020959.2|17|1),downstream_gene_variant(MODIFIER||1778||102|DDA1|protein_coding|CODING|NM_024050.5||1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6207,0.4885,0.7227,0.75,0.84,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ANO8,SILENT,NM_020959.2:p.Ser990Ser/c.2970G>A,tcG/tcA,LOW,COSM3756462(3),0.246206,0.1429,rs56286266,,,,,,chr19,17435887,17435887,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser990Ser/c.2970G>A|1232|ANO8|protein_coding|CODING|NM_020959.2|17|1),downstream_gene_variant(MODIFIER||1781||102|DDA1|protein_coding|CODING|NM_024050.5||1)","H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4182,0.2406,0.34,0.27,0.18,0.32,,,,,,,,,,,,,,,,
synonymous_variant,ANO8,SILENT,NM_020959.2:p.Val758Val/c.2274T>C,gtT/gtC,LOW,,0.621805,0.2917,rs8102944,,,,,,chr19,17438642,17438642,A,G,hom,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val758Val/c.2274T>C|1232|ANO8|protein_coding|CODING|NM_020959.2|14|1),"NHEK:CTCF,H1ESC:H3K36me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27ac,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,HepG2:H3K36me3,HMEC:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF",,,,0.6207,0.4899,0.7227,0.76,0.85,0.71,,,,,,,,,,,,,,,,
synonymous_variant,GTPBP3,SILENT,NM_133644.3:p.Thr66Thr/c.198A>C,acA/acC,LOW,COSM1750716(15),0.623602,0.2956,rs1864112,,,,,,chr19,17448961,17448961,A,C,hom,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr66Thr/c.198A>C|471|GTPBP3|protein_coding|CODING|NM_001128855.2|2|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr88Thr/c.264A>C|514|GTPBP3|protein_coding|CODING|NM_001195422.1|2|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr66Thr/c.198A>C|492|GTPBP3|protein_coding|CODING|NM_032620.3|2|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr66Thr/c.198A>C|524|GTPBP3|protein_coding|CODING|NM_133644.3|2|1)","NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H3K4me2,HeLa-S3:H3K4me2,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,K562:Gabp,K562:THAP1,IMR90:H3K36me3,CD4:H2BK5me1,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6278,0.4885,0.7217,0.76,0.85,0.71,,,,,,,,,,,,,,,,
missense_variant,GTPBP3,MISSENSE,NM_133644.3:p.Val282Ala/c.845T>C,gTg/gCg,MODERATE,,0.622404,0.2907,rs3810206,0(D),,0.51(N),-1.0453(T),,chr19,17450016,17450016,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val282Ala/c.845T>C|524|GTPBP3|protein_coding|CODING|NM_133644.3|5|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val250Ala/c.749T>C|471|GTPBP3|protein_coding|CODING|NM_001128855.2|6|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val272Ala/c.815T>C|514|GTPBP3|protein_coding|CODING|NM_001195422.1|6|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val250Ala/c.749T>C|492|GTPBP3|protein_coding|CODING|NM_032620.3|6|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6278,0.487,0.7217,0.76,0.85,0.71,,,0.666(P),,0.0000(T),.,0.213328,4.79,3.76,-0.338000,1.021000,1.929000,0.174000,0.505000,0.967000,6.1195
missense_variant,TMEM221,MISSENSE,NM_001190844.1:p.Met284Thr/c.851T>C,aTg/aCg,MODERATE,COSM4131409(1),0.895168,0.7808,rs4808641,1(T),,,-0.9532(T),,chr19,17547292,17547292,A,G,hom,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met284Thr/c.851T>C|291|TMEM221|protein_coding|CODING|NM_001190844.1|3|1),"GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.8292,0.9553,0.9394,,,,,,1.000(P),,0.0000(T),0.053,-2.179462,4.43,0.101,-0.320000,-0.383000,0.343000,0.004000,0.000000,0.000000,8.6633
synonymous_variant,TMEM221,SILENT,NM_001190844.1:p.His120His/c.360T>C,caT/caC,LOW,,0.71226,0.3631,rs3810209,,,,,,chr19,17556054,17556054,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His120His/c.360T>C|291|TMEM221|protein_coding|CODING|NM_001190844.1|2|1),,,,,0.6442,0.719,0.9294,,,,,,,,,,,,,,,,,,,
missense_variant,TMEM221,MISSENSE,NM_001190844.1:p.Thr66Ala/c.196A>G,Acg/Gcg,MODERATE,COSM4131410(1),0.704273,0.3631,rs4808643,0.74(T),,-0.55(N),-0.9996(T),,chr19,17559076,17559076,T,C,hom,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr66Ala/c.196A>G|291|TMEM221|protein_coding|CODING|NM_001190844.1|1|1),"K562:ZBTB7A,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HeLa-S3:E2F1,K562:DNase1",,,,0.6166,0.7104,0.9205,,,,,,1.000(P),,0.0000(T),0.09,-0.148164,3.13,3.13,-0.546000,0.669000,0.920000,0.047000,0.953000,0.283000,6.4204
synonymous_variant,PGLS,SILENT,NM_012088.2:p.Leu45Leu/c.133C>T,Ctg/Ttg,LOW,COSM3749485(10),0.371805,0.377,rs11086075,,,,,,chr19,17622614,17622614,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu45Leu/c.133C>T|258|PGLS|protein_coding|CODING|NM_012088.2|1|1),"GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:THAP1,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ini1,HeLa-S3:Ap2gamma,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.3804,0.4207,0.4851,0.30,0.21,0.35,,,,,,,,,,,,,,,,
synonymous_variant,PGLS,SILENT,NM_012088.2:p.Thr189Thr/c.567A>G,acA/acG,LOW,COSM4131411(1),0.601038,0.4573,rs6743,,,,,,chr19,17628587,17628587,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr189Thr/c.567A>G|258|PGLS|protein_coding|CODING|NM_012088.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4724,0.6398,0.5596,0.62,0.78,0.54,,,,,,,,,,,,,,,,
splice_donor_variant,FAM129C,protein_coding,NM_173544.4:c.686T>C,,HIGH,,0.900958,0.7371,rs8107859,0.49(T),,-2.075(N),-0.9635(T),FAM129C:1.00(2);,chr19,17648350,17648350,T,C,hom,"splice_donor_variant(HIGH|||c.686T>C|651|FAM129C|protein_coding|CODING|NM_001098524.1|6|1),splice_donor_variant(HIGH|||c.686T>C|697|FAM129C|protein_coding|CODING|NM_173544.4|6|1),intron_variant(MODIFIER|||c.685+1T>C|651|FAM129C|protein_coding|CODING|NM_001098524.1|6|1),intron_variant(MODIFIER|||c.685+1T>C|697|FAM129C|protein_coding|CODING|NM_173544.4|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8395,0.938,0.9722,0.98,0.99,0.97,,0.003008(N),0.000(P),"2.39,2.42,2.09,2.1(T,T,T,T)",0.0000(T),0.101,-0.223829,4.42,4.42,-0.365000,0.881000,1.561000,0.809000,0.995000,1.000000,8.671
synonymous_variant,FAM129C,SILENT,NM_173544.4:p.Ser414Ser/c.1242A>G,tcA/tcG,LOW,COSM3756466(3),0.830072,0.5714,rs11878663,,,,,,chr19,17651370,17651370,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser414Ser/c.1242A>G|651|FAM129C|protein_coding|CODING|NM_001098524.1|10|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser414Ser/c.1242A>G|697|FAM129C|protein_coding|CODING|NM_173544.4|10|1)",NHEK:H3K27me3,,,,0.7924,0.8963,0.8907,0.91,0.96,0.89,,,,,,,,,,,,,,,,
synonymous_variant,UNC13A,SILENT,NM_001080421.2:p.Ser1499Ser/c.4497G>A,tcG/tcA,LOW,COSM3756471(3),0.0896565,0.001,rs56174023,,,,,,chr19,17728572,17728572,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1499Ser/c.4497G>A|1703|UNC13A|protein_coding|CODING|NM_001080421.2|39|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:DNase1,K562:Cfos,HUVEC:DNase1,K562:E2F6,NHEK:H3K27me3,HepG2:H3K27me3,K562:DNase1,K562:E2F4",,,,0.0828,0.1052,0.2515,0.18,0.05,0.24,,,,,,,,,,,,,,,,
missense_variant,UNC13A,MISSENSE,NM_001080421.2:p.Leu1034Pro/c.3101T>C,cTc/cCc,MODERATE,,0.999201,0.997,rs4239634,1(T),,-2.005(N),-0.9522(T),,chr19,17746947,17746947,A,G,hom,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu1034Pro/c.3101T>C|1703|UNC13A|protein_coding|CODING|NM_001080421.2|25|1),"H1ESC:H3K36me3,HUVEC:H3K27me3",,,,0.999,1,1,,,,,0.000154(N),0.000(P),"-1.29,-1.31,-1.29,-1.17,-1.16,-1.29(T,T,T,T,T,T)",0.0000(T),0.174,-0.266427,3.52,3.52,-0.684000,0.702000,7.608000,0.869000,1.000000,1.000000,8.8128
synonymous_variant,UNC13A,SILENT,NM_001080421.2:p.Val589Val/c.1767C>G,gtC/gtG,LOW,,0.0894569,0,rs73922174,,,,,,chr19,17759289,17759289,G,C,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val589Val/c.1767C>G|1703|UNC13A|protein_coding|CODING|NM_001080421.2|15|1),"H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,K562:DNase1",,,,0.0184,0.0591,0.0964,0.12,0.18,0.09,,,,,,,,,,,,,,,,
synonymous_variant,UNC13A,SILENT,NM_001080421.2:p.Ser158Ser/c.474G>C,tcG/tcC,LOW,,0.751997,0.5099,rs9305092,,,,,,chr19,17777508,17777508,C,G,hom,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser158Ser/c.474G>C|1703|UNC13A|protein_coding|CODING|NM_001080421.2|7|1),"H1ESC:H3K36me3,HepG2:H3K27me3",,,,0.7791,0.6585,0.8698,0.87,0.86,0.87,,,,,,,,,,,,,,,,
synonymous_variant,FCHO1,SILENT,NM_001161357.1:p.Pro301Pro/c.903A>G,ccA/ccG,LOW,,0.594649,0.8254,rs2287859,,,,,,chr19,17885270,17885270,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro301Pro/c.903A>G|891|FCHO1|protein_coding|CODING|NM_001161357.1|13|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro301Pro/c.903A>G|889|FCHO1|protein_coding|CODING|NM_001161358.1|12|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro251Pro/c.753A>G|839|FCHO1|protein_coding|CODING|NM_001161359.1|11|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro301Pro/c.903A>G|889|FCHO1|protein_coding|CODING|NM_015122.2|13|1)","GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5757,0.5937,0.4056,0.46,0.56,0.41,,,,,,,,,,,,,,,,
synonymous_variant,FCHO1,SILENT,NM_001161357.1:p.Ala384Ala/c.1152G>A,gcG/gcA,LOW,COSM4131434(1),0.573882,0.7778,rs2287854,,,,,,chr19,17886940,17886940,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala384Ala/c.1152G>A|891|FCHO1|protein_coding|CODING|NM_001161357.1|16|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala384Ala/c.1152G>A|889|FCHO1|protein_coding|CODING|NM_001161358.1|15|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala334Ala/c.1002G>A|839|FCHO1|protein_coding|CODING|NM_001161359.1|14|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala384Ala/c.1152G>A|889|FCHO1|protein_coding|CODING|NM_015122.2|16|1)","K562:H3K36me3,GM12878:EBF,NHEK:H3K27me3,GM12878:H3K4me1,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1",,,,0.5746,0.536,0.4006,0.46,0.55,0.41,,,,,,,,,,,,,,,,
synonymous_variant,FCHO1,SILENT,NM_001161357.1:p.Thr633Thr/c.1899A>G,acA/acG,LOW,COSM4131435(1),0.85643,0.8264,rs2042298,,,,,,chr19,17892591,17892591,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr633Thr/c.1899A>G|891|FCHO1|protein_coding|CODING|NM_001161357.1|23|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr633Thr/c.1899A>G|889|FCHO1|protein_coding|CODING|NM_001161358.1|22|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr583Thr/c.1749A>G|839|FCHO1|protein_coding|CODING|NM_001161359.1|21|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr633Thr/c.1899A>G|889|FCHO1|protein_coding|CODING|NM_015122.2|23|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9059,0.8934,0.9543,0.89,0.79,0.94,,,,,,,,,,,,,,,,
missense_variant,B3GNT3,MISSENSE,NM_014256.3:p.Arg328His/c.983G>A,cGc/cAc,MODERATE,COSM4131436(2),0.740016,0.505,rs36686,0.41(T),0.049(B),1.795(L),-0.9806(T),,chr19,17922795,17922795,G,A,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg328His/c.983G>A|372|B3GNT3|protein_coding|CODING|NM_014256.3|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.7157,0.7666,0.7783,0.80,0.88,0.76,,0.097079(N),1.000(P),0.99(T),0.0000(T),0.038,0.548188,5.23,3.1,-0.221000,1.225000,-0.546000,0.051000,0.004000,0.000000,5.1272
synonymous_variant,CCDC124,SILENT,NM_001136203.1:p.Arg18Arg/c.54T>G,cgT/cgG,LOW,,0.367612,0.1161,rs4808722,,,,,,chr19,18047283,18047283,T,G,het,"synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg18Arg/c.54T>G|223|CCDC124|protein_coding|CODING|NM_001136203.1|2|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg18Arg/c.54T>G|223|CCDC124|protein_coding|CODING|NM_138442.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.2522,0.3857,0.44,0.58,0.37,,,,,,,,,,,,,,,,
missense_variant,ARRDC2,MISSENSE,NM_001025604.2:p.Arg80Cys/c.238C>T,Cgt/Tgt,MODERATE,,0.0399361,0.003,rs113540008,0.16(T),0.866(P),,-0.9995(T),,chr19,18112361,18112361,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg80Cys/c.238C>T|402|ARRDC2|protein_coding|CODING|NM_001025604.2|1|1),"K562:ZBTB7A,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,CD4:HDAC1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.0532,0.0403,0.0746,0.04,0.03,0.05,,,1.000(D),3.29(T),0.0054(T),0.083,3.644965,3.58,-0.231,0.491000,0.164000,0.358000,0.952000,0.311000,0.531000,3.6128
synonymous_variant,MAST3,SILENT,NM_015016.1:p.His174His/c.522C>T,caC/caT,LOW,COSM3756487(2),0.564497,0.6706,rs740691,,,,,,chr19,18234441,18234441,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His174His/c.522C>T|1309|MAST3|protein_coding|CODING|NM_015016.1|7|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7045,0.5331,0.504,0.52,0.48,0.53,,,,,,,,,,,,,,,,
synonymous_variant,MAST3,SILENT,NM_015016.1:p.Ile536Ile/c.1608C>T,atC/atT,LOW,COSM3756490(2),0.53115,0.6726,rs2270623,,,,,,chr19,18245512,18245512,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile536Ile/c.1608C>T|1309|MAST3|protein_coding|CODING|NM_015016.1|15|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7014,0.5245,0.503,0.46,0.34,0.52,,,,,,,,,,,,,,,,
synonymous_variant,MAST3,SILENT,NM_015016.1:p.Ala661Ala/c.1983T>C,gcT/gcC,LOW,,0.939497,0.9613,rs541225,,,,,,chr19,18248146,18248146,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala661Ala/c.1983T>C|1309|MAST3|protein_coding|CODING|NM_015016.1|18|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9274,0.9524,0.9264,0.94,0.94,0.94,,,,,,,,,,,,,,,,
missense_variant,MAST3,MISSENSE,NM_015016.1:p.Gly861Ser/c.2581G>A,Ggc/Agc,MODERATE,COSM3756492(2),0.532149,0.6806,rs8108738,0.96(T),0.002(B),1.87(L),-0.9145(T),,chr19,18255359,18255359,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly861Ser/c.2581G>A|1309|MAST3|protein_coding|CODING|NM_015016.1|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7004,0.5245,0.502,0.46,0.34,0.52,,0.130767(N),1.000(P),-0.15(T),0.0000(T),0.036,0.421969,4.57,2.28,0.491000,0.283000,2.388000,0.664000,0.303000,0.943000,8.3821
synonymous_variant,MAST3,SILENT,NM_015016.1:p.Gly1045Gly/c.3135C>T,ggC/ggT,LOW,COSM3756493(1),0.538538,0.6796,rs2072490,,,,,,chr19,18257750,18257750,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1045Gly/c.3135C>T|1309|MAST3|protein_coding|CODING|NM_015016.1|25|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.6984,0.5245,0.502,0.46,0.35,0.51,,,,,,,,,,,,,,,,
missense_variant,PIK3R2,MISSENSE,NM_005027.3:p.Ser234Arg/c.700A>C,Agc/Cgc,MODERATE,COSM4131465(1),0.923922,0.9117,rs2241088,0.3(T),0.0(B),0.115(N),-1.0638(T),,chr19,18272190,18272190,A,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Cgc|p.Ser234Arg/c.700A>C|728|PIK3R2|protein_coding|CODING|NM_005027.3|6|1),non_coding_exon_variant(MODIFIER|||n.1240A>C||PIK3R2||CODING|NR_073517.1|6|1)","NHEK:CTCF,H1ESC:H3K36me3,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM12878:H3K4me3,CD4:DNase1,K562:CTCF,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,GM12878:ELF1,GM12878:Yy1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:Cmyc,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,K562:ELF1,GM12878:PolII,K562:Rad21,K562:Yy1,NHEK:H3K36me3,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HeLa-S3:E2F1,GM12878:DNase1,GM06990:H3K36me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.8753,0.8847,0.9404,,,,,0.065782(N),1.000(P),2.17(T),0.0000(T),0.089,3.401709,4.25,2.02,-0.368000,0.149000,0.802000,0.933000,0.029000,0.330000,8.5905
missense_variant,PIK3R2,MISSENSE,NM_005027.3:p.Ser313Pro/c.937T>C,Tcc/Ccc,MODERATE,,0.953474,0.9633,rs1011320,0.56(T),0.0(B),-0.805(N),-1.0200(T),,chr19,18273047,18273047,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser313Pro/c.937T>C|728|PIK3R2|protein_coding|CODING|NM_005027.3|8|1),non_coding_exon_variant(MODIFIER|||n.1477T>C||PIK3R2||CODING|NR_073517.1|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9233,0.9597,0.9473,0.96,0.97,0.95,,0.040751(N),1.000(P),0.88(T),0.0000(T),0.049,-2.068096,3.76,-1.99,-0.320000,-0.251000,-0.029000,0.001000,0.002000,0.000000,7.1506
synonymous_variant,PIK3R2,SILENT,NM_005027.3:p.Ser637Ser/c.1911T>C,agT/agC,LOW,COSM4131467(1),0.86242,0.9365,rs273269,,,,,,chr19,18279638,18279638,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser637Ser/c.1911T>C|728|PIK3R2|protein_coding|CODING|NM_005027.3|15|1),non_coding_exon_variant(MODIFIER|||n.2500T>C||PIK3R2||CODING|NR_073517.1|15|1)","H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.8701,0.8501,0.8946,0.85,0.78,0.89,,,,,,,,,,,,,,,,
synonymous_variant,PIK3R2,SILENT,NM_005027.3:p.Thr709Thr/c.2127C>T,acC/acT,LOW,COSM3756495(1),0.0241613,0.001,rs112813367,,,,,,chr19,18280044,18280044,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr709Thr/c.2127C>T|728|PIK3R2|protein_coding|CODING|NM_005027.3|16|1),non_coding_exon_variant(MODIFIER|||n.2716C>T||PIK3R2||CODING|NR_073517.1|16|1)","H1ESC:H3K36me3,GM12878:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.0184,0.036,0.0577,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,PIK3R2,MISSENSE,NM_005027.3:p.Ala727Thr/c.2179G>A,Gcc/Acc,MODERATE,COSM1325394(1),0.0195687,0,rs149081991,0.22(T),0.0(B),0(N),-1.0472(T),,chr19,18280096,18280096,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala727Thr/c.2179G>A|728|PIK3R2|protein_coding|CODING|NM_005027.3|16|1),non_coding_exon_variant(MODIFIER|||n.2768G>A||PIK3R2||CODING|NR_073517.1|16|1)","H1ESC:H3K36me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.0072,0.036,0.0596,0.04,0.01,0.05,,0.692015(N),1.000(N),0.89(T),0.0050(T),0.064,3.872494,3.88,-2.81,0.462000,-0.484000,-0.048000,0.946000,0.002000,0.000000,9.2023
synonymous_variant,IFI30,SILENT,NM_006332.4:p.Pro201Pro/c.603A>G,ccA/ccG,LOW,COSM148532(1),0.425319,0.2103,rs7125,,,,,,chr19,18288069,18288069,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro201Pro/c.603A>G|250|IFI30|protein_coding|CODING|NM_006332.4|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2894,0.4769,0.5308,0.54,0.57,0.53,,,,,,,,,,,,,,,,
synonymous_variant,RAB3A,SILENT,NM_002866.4:p.Ala95Ala/c.285T>C,gcT/gcC,LOW,COSM148533(2),0.161542,0.0923,rs1046565,,,,,,chr19,18311199,18311199,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala95Ala/c.285T>C|220|RAB3A|protein_coding|CODING|NM_002866.4|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:Jund",,,,0.1493,0.2363,0.3658,0.25,0.08,0.34,,,,,,,,,,,,,,,,
synonymous_variant,PDE4C,SILENT,NM_000923.4:p.Glu378Glu/c.1134A>G,gaA/gaG,LOW,COSM148534(2),0.419928,0.1687,rs1042050,,,,,,chr19,18329240,18329240,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu378Glu/c.1134A>G|712|PDE4C|protein_coding|CODING|NM_000923.4|11|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu346Glu/c.1038A>G|680|PDE4C|protein_coding|CODING|NM_001098818.2|10|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu272Glu/c.816A>G|606|PDE4C|protein_coding|CODING|NM_001098819.2|10|1),non_coding_exon_variant(MODIFIER|||n.1048A>G||PDE4C||CODING|NR_040546.1|9|1)","IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3098,0.5461,0.6501,0.57,0.47,0.62,,,,,,,,,,,,,,,,
missense_variant,PDE4C,MISSENSE,NM_000923.4:p.Arg344Gln/c.1031G>A,cGg/cAg,MODERATE,COSM148535(2),0.209864,0.1032,rs2229228,0.01(D),"0.201,0.436,0.034,0.06(B,B,B,B)",3.045(M),-1.0844(T),,chr19,18329784,18329784,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg344Gln/c.1031G>A|712|PDE4C|protein_coding|CODING|NM_000923.4|10|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg312Gln/c.935G>A|680|PDE4C|protein_coding|CODING|NM_001098818.2|9|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg238Gln/c.713G>A|606|PDE4C|protein_coding|CODING|NM_001098819.2|9|1),non_coding_exon_variant(MODIFIER|||n.945G>A||PDE4C||CODING|NR_040546.1|8|1)","HUVEC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1483,0.2493,0.3638,0.30,0.23,0.34,,0.000014(N),0.681(P),"-0.49,-0.49,-0.49,-0.49(T,T,T,T)",0.0000(T),0.051,2.909073,4.53,2.33,0.313000,0.284000,1.092000,0.652000,1.000000,0.441000,7.4462
missense_variant,KIAA1683,MISSENSE,NM_001145304.1:p.Pro1095His/c.3284C>A,cCt/cAt,MODERATE,COSM438967(3),0.551118,0.5536,rs999813,0.17(T),"0.0,0.001(B,B)",-0.55(N),-1.0543(T),,chr19,18368810,18368810,G,T,het,"missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro1095His/c.3284C>A|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|4|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro862His/c.2585C>A|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|4|1),missense_variant(MODERATE|MISSENSE|cCt/cAt|p.Pro908His/c.2723C>A|1180|KIAA1683|protein_coding|CODING|NM_025249.3|4|1)","IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4141,0.6037,0.4662,0.53,0.67,0.45,,0.896811(N),1.000(P),"4.03,4.01,3.93(T,T,T)",0.0000(T),0.095,0.416402,3.59,-1.61,-0.546000,-0.155000,-0.447000,0.001000,0.000000,0.000000,1.3507
synonymous_variant,KIAA1683,SILENT,NM_001145304.1:p.Pro929Pro/c.2787C>T,ccC/ccT,LOW,,0.181909,0.2341,rs12608744,,,,,,chr19,18375563,18375563,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro929Pro/c.2787C>T|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),intron_variant(MODIFIER|||c.2478+171C>T|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1),intron_variant(MODIFIER|||c.2616+171C>T|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1636,0.3271,0.2704,0.20,0.05,0.27,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1683,SILENT,NM_001145304.1:p.Leu897Leu/c.2691G>A,ctG/ctA,LOW,COSM3766300(1),0.181909,0.2341,rs12608843,,,,,,chr19,18375659,18375659,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu897Leu/c.2691G>A|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),intron_variant(MODIFIER|||c.2478+75G>A|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1),intron_variant(MODIFIER|||c.2616+75G>A|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1636,0.3271,0.2704,0.20,0.05,0.27,,,,,,,,,,,,,,,,
missense_variant,KIAA1683,MISSENSE,NM_001145304.1:p.Tyr648Phe/c.1943A>T,tAt/tTt,MODERATE,COSM4000576(1),0.544129,0.5516,rs8110972,0.63(T),"0.003,0.003(B,B)",0.755(N),-0.9545(T),,chr19,18376407,18376407,T,A,het,"missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr648Phe/c.1943A>T|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr648Phe/c.1943A>T|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1),missense_variant(MODERATE|MISSENSE|tAt/tTt|p.Tyr602Phe/c.1805A>T|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K27me3",,,,0.4202,0.5908,0.4294,0.51,0.67,0.43,,0.431124(N),1.000(P),"3.62,3.58,3.51(T,T,T)",0.0000(T),0.066,0.644115,4.36,-8.1,-1.402000,-1.462000,-0.546000,0.000000,0.000000,0.000000,0.4597
missense_variant,KIAA1683,MISSENSE,NM_001145304.1:p.Thr610Pro/c.1828A>C,Acc/Ccc,MODERATE,COSM1600361(2),0.561102,0.5516,rs2277922,1(T),"0.0,0.0(B,B)",-1.5(N),-0.9670(T),,chr19,18376522,18376522,T,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr610Pro/c.1828A>C|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr610Pro/c.1828A>C|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1),missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr564Pro/c.1690A>C|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HepG2:H3K27me3",,,,0.4213,0.6052,0.4533,0.53,0.71,0.44,,0.714497(N),1.000(P),"4.09,4.12,4.04(T,T,T)",0.0000(T),0.072,-1.141439,4.34,-4.38,-0.121000,-1.210000,-1.257000,0.000000,0.000000,0.000000,0.6945
missense_variant,KIAA1683,MISSENSE,NM_001145304.1:p.Met359Thr/c.1076T>C,aTg/aCg,MODERATE,COSM4000580(2),0.54373,0.5496,rs3746186,0.37(T),"0.0,0.0(B,B)",0.205(N),-1.0107(T),,chr19,18377274,18377274,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met359Thr/c.1076T>C|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met359Thr/c.1076T>C|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met313Thr/c.938T>C|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.4202,0.5908,0.4294,0.51,0.67,0.43,,0.209661(N),1.000(P),"3.86,3.84,3.77(T,T,T)",0.0000(T),0.043,-0.137994,4.1,-2.6,-3.011000,-0.751000,-0.495000,0.000000,0.000000,0.000000,4.4187
missense_variant,KIAA1683,MISSENSE,NM_001145304.1:p.Ser285Thr/c.854G>C,aGt/aCt,MODERATE,COSM4000582(1),0.544529,0.5516,rs8104533,1(T),"0.0,0.0(B,B)",-0.895(N),-1.0132(T),,chr19,18377496,18377496,C,G,het,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser285Thr/c.854G>C|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser285Thr/c.854G>C|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1),missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser239Thr/c.716G>C|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.4223,0.5908,0.4294,0.51,0.67,0.43,,0.547205(N),1.000(P),"4.16,4.18,4.11(T,T,T)",0.0000(T),0.016,-1.754861,3.2,1.08,-0.352000,0.078000,-0.129000,0.001000,0.000000,0.000000,3.3984
missense_variant,KIAA1683,MISSENSE,NM_001145304.1:p.Leu235Val/c.703C>G,Ctg/Gtg,MODERATE,,0.561302,0.5516,rs8103906,1(T),"0.0,0.0(B,B)",-0.46(N),-0.9828(T),,chr19,18377647,18377647,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu235Val/c.703C>G|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu235Val/c.703C>G|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu189Val/c.565C>G|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.4233,0.6052,0.4533,0.53,0.70,0.44,,0.892362(N),1.000(P),"4.09,4.1,4.02(T,T,T)",0.0000(T),0.02,-2.365330,2.81,-0.595,-3.576000,-0.279000,-1.126000,0.002000,0.000000,0.000000,2.3337
missense_variant,KIAA1683,MISSENSE,NM_001145304.1:p.Leu44Pro/c.131T>C,cTg/cCg,MODERATE,COSM4000584(1),0.561502,0.5516,rs1469023,0.09(T),"0.0,0.0(B,B)",-0.805(N),-1.0594(T),,chr19,18378219,18378219,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu44Pro/c.131T>C|1367|KIAA1683|protein_coding|CODING|NM_001145304.1|3|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu44Pro/c.131T>C|1180|KIAA1683|protein_coding|CODING|NM_025249.3|3|1),5_prime_UTR_variant(MODIFIER||8|c.-8T>C|1134|KIAA1683|protein_coding|CODING|NM_001145305.1|3|1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,IMR90:H3K36me3,K562:E2F6",,,,0.4254,0.6052,0.4523,0.53,0.71,0.45,,,1.000(P),"3.89,3.9(T,T)",0.0000(T),0.031,0.630654,2.43,-2.54,-0.642000,-1.090000,-1.300000,0.008000,0.000000,0.000000,3.5
missense_variant,GDF15,MISSENSE,NM_004864.2:p.Val9Leu/c.25G>C,Gtg/Ctg,MODERATE,COSM137684(3),0.712061,0.6835,rs1059519,0.36(T),0.0(B),-0.345(N),-0.9571(T),,chr19,18497024,18497024,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val9Leu/c.25G>C|308|GDF15|protein_coding|CODING|NM_004864.2|1|1),upstream_gene_variant(MODIFIER||348|||MIR3189||NON_CODING|NR_036156.1||1)","K562:ZBTB7A,H1ESC:PolII,NHEK:CTCF,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HepG2:p300,HepG2:Sin3Ak20,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:Max,K562:CTCF,HUVEC:PolII,K562:TFIIIC-110,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,HSMM:CTCF,HepG2:PolII,HepG2:SP1,HepG2:HNF4G,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:GTF2B,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,K562:CTCFL,HMEC:CTCF,K562:E2F6,K562:Cjun,HeLa-S3:PolII,NHEK:H3K27me3,K562:NELFe,NH-A:CTCF,HepG2:HNF4A,GM12878:PolII,K562:Rad21,HepG2:H3K4me3,HepG2:FOXA2,CD4:CTCF,HepG2:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:FOXA1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,HepG2:Jund,HepG2:Rad21,HMEC:H3K4me3,HepG2:Cmyc,H1ESC:Rad21,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,K562:E2F4,K562:Jund,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.6391,0.7017,0.675,0.70,0.79,0.66,,0.156134(N),1.000(P),-1.55(D),0.0000(T),0.067,-0.645698,3.56,-1.7,-0.647000,-0.515000,-0.408000,0.008000,0.000000,0.000000,1.2396
missense_variant,GDF15,MISSENSE,NM_004864.2:p.His202Asp/c.604C>G,Cac/Gac,MODERATE,COSM3756502(3),0.230831,0.252,rs1058587,0.67(T),0.0(B),0.345(N),-1.0961(T),,chr19,18499422,18499422,C,G,het,"missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His202Asp/c.604C>G|308|GDF15|protein_coding|CODING|NM_004864.2|2|1),downstream_gene_variant(MODIFIER||1978|||MIR3189||NON_CODING|NR_036156.1||1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,K562:CTCF,HUVEC:H3K36me3,K562:TFIIIC-110,H1ESC:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HSMM:CTCF,H1ESC:Gabp,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,K562:Cmyc,IMR90:H3K36me3,K562:CTCFL,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,K562:Cjun,HeLa-S3:PolII,NHEK:H3K27me3,NH-A:CTCF,GM12878:PolII,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:TAF1,HepG2:DNase1,HMEC:DNase1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,H1ESC:Rad21,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20,GM06990:CTCF",,,,0.3497,0.1657,0.2525,0.19,0.14,0.22,,0.405193(N),1.000(P),-0.42(T),0.0000(T),0.053,0.535227,4.24,-1.45,0.313000,-0.090000,0.514000,0.351000,0.001000,0.060000,5.909
missense_variant,LRRC25,MISSENSE,NM_145256.2:p.Pro294Ser/c.880C>T,Cca/Tca,MODERATE,,0.722045,0.6746,rs6512265,0.08(T),0.006(B),0.975(L),-1.0460(T),,chr19,18502835,18502835,G,A,het,missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro294Ser/c.880C>T|305|LRRC25|protein_coding|CODING|NM_145256.2|2|1),,,,,0.6401,0.7046,0.675,0.72,0.83,0.66,,0.598887(N),1.000(P),1.42(T),0.0000(T),0.04,2.223873,3.56,-1.63,-1.080000,-0.305000,-0.491000,0.003000,0.000000,0.000000,1.1268
synonymous_variant,SSBP4,SILENT,NM_032627.4:p.Arg77Arg/c.229A>C,Aga/Cga,LOW,COSM3756504(3),0.470647,0.2153,rs10405636,,,,,,chr19,18538742,18538742,A,C,het,"synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg77Arg/c.229A>C|363|SSBP4|protein_coding|CODING|NM_001009998.3|4|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg77Arg/c.229A>C|385|SSBP4|protein_coding|CODING|NM_032627.4|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4499,0.3689,0.3469,0.48,0.75,0.34,,,,,,,,,,,,,,,,
synonymous_variant,SSBP4,SILENT,NM_032627.4:p.Pro130Pro/c.390G>A,ccG/ccA,LOW,,0.00499201,0,rs183851202,,,,,,chr19,18542183,18542183,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro130Pro/c.390G>A|385|SSBP4|protein_coding|CODING|NM_032627.4|6|1),intron_variant(MODIFIER|||c.370-274G>A|363|SSBP4|protein_coding|CODING|NM_001009998.3|5|1)","K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0101,0.0169,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,ISYNA1,SILENT,NM_016368.4:p.Thr538Thr/c.1614C>A,acC/acA,LOW,COSM3766301(1),,,rs1045631,,,,,,chr19,18545786,18545786,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr484Thr/c.1452C>A|504|ISYNA1|protein_coding|CODING|NM_001170938.1|10|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr410Thr/c.1230C>A|430|ISYNA1|protein_coding|CODING|NM_001253389.1|8|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr538Thr/c.1614C>A|558|ISYNA1|protein_coding|CODING|NM_016368.4|11|1),downstream_gene_variant(MODIFIER||414||363|SSBP4|protein_coding|CODING|NM_001009998.3||1),downstream_gene_variant(MODIFIER||414||385|SSBP4|protein_coding|CODING|NM_032627.4||1),non_coding_exon_variant(MODIFIER|||n.1638C>A||ISYNA1||CODING|NR_045573.1|10|1),non_coding_exon_variant(MODIFIER|||n.1502C>A||ISYNA1||CODING|NR_045574.1|8|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.21,0.24,0.20,,,,,,,,,,,,,,,,
synonymous_variant,ISYNA1,SILENT,NM_016368.4:p.Leu343Leu/c.1029A>G,ctA/ctG,LOW,,0.472444,0.2163,rs2303697,,,,,,chr19,18546678,18546678,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu289Leu/c.867A>G|504|ISYNA1|protein_coding|CODING|NM_001170938.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu215Leu/c.645A>G|430|ISYNA1|protein_coding|CODING|NM_001253389.1|5|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu343Leu/c.1029A>G|558|ISYNA1|protein_coding|CODING|NM_016368.4|8|1),downstream_gene_variant(MODIFIER||1306||363|SSBP4|protein_coding|CODING|NM_001009998.3||1),downstream_gene_variant(MODIFIER||1306||385|SSBP4|protein_coding|CODING|NM_032627.4||1),non_coding_exon_variant(MODIFIER|||n.1053A>G||ISYNA1||CODING|NR_045573.1|7|1),non_coding_exon_variant(MODIFIER|||n.917A>G||ISYNA1||CODING|NR_045574.1|5|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4519,0.3732,0.3479,0.48,0.75,0.34,,,,,,,,,,,,,,,,
synonymous_variant,KXD1,SILENT,NM_001171948.1:p.Pro147Pro/c.441C>T,ccC/ccT,LOW,COSM3756506(2),0.14357,0.001,rs11086117,,,,,,chr19,18679351,18679351,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro147Pro/c.441C>T|176|KXD1|protein_coding|CODING|NM_001171948.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro147Pro/c.441C>T|176|KXD1|protein_coding|CODING|NM_001171949.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro147Pro/c.441C>T|176|KXD1|protein_coding|CODING|NM_024069.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0504,0.0318,0.16,0.42,0.03,,,,,,,,,,,,,,,,
missense_variant,KXD1,MISSENSE,NM_001171948.1:p.Pro157Ala/c.469C>G,Cct/Gct,MODERATE,COSM3756507(2),0.46246,0.6895,rs7648,0.7(T),0.039(B),0.69(N),-0.9578(T),,chr19,18679379,18679379,C,G,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro157Ala/c.469C>G|176|KXD1|protein_coding|CODING|NM_001171948.1|6|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro157Ala/c.469C>G|176|KXD1|protein_coding|CODING|NM_001171949.1|5|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro157Ala/c.469C>G|176|KXD1|protein_coding|CODING|NM_024069.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4908,0.5533,0.5606,0.44,0.20,0.56,,0.018454(N),1.000(P),"1.0,1.0,1.0(T,T,T)",0.0000(T),0.124,-0.308095,4.6,2.41,0.561000,0.346000,0.467000,0.038000,0.003000,0.000000,6.6392
synonymous_variant,KLHL26,SILENT,NM_018316.1:p.Ala30Ala/c.90C>T,gcC/gcT,LOW,COSM438980(2),0.437899,0.4365,rs1076235,,,,,,chr19,18775077,18775077,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala30Ala/c.90C>T|615|KLHL26|protein_coding|CODING|NM_018316.1|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4785,0.4251,0.3091,0.36,0.49,0.29,,,,,,,,,,,,,,,,
missense_variant,CRTC1,MISSENSE,NM_001098482.1:p.Thr344Ala/c.1030A>G,Acc/Gcc,MODERATE,,0.126797,0.1726,rs3746266,0.19(T),"0.654,0.047,0.257(P,B,B)",1.355(L),-1.0609(T),,chr19,18876309,18876309,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr344Ala/c.1030A>G|650|CRTC1|protein_coding|CODING|NM_001098482.1|10|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr328Ala/c.982A>G|634|CRTC1|protein_coding|CODING|NM_015321.2|9|1)","NHEK:H3K4me1,H1ESC:H3K27me3,IMR90:H3K36me3,HMEC:H3K4me1,NHEK:DNase1",,,,0.1493,0.1153,0.17,0.13,0.08,0.16,,0.064026(N),0.004(P),"2.62,2.64(T,T)",0.0001(T),0.198,3.138666,4.38,3.31,0.459000,0.611000,5.595000,0.854000,0.925000,1.000000,9.9087
missense_variant,GDF1,MISSENSE,NM_001492.5:p.Ala118Val/c.353C>T,gCc/gTc,MODERATE,,0.233826,0.1687,rs4808863,0.51(T),,1.39(L),-0.9488(T),,chr19,18980172,18980172,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala118Val/c.353C>T|372|GDF1|protein_coding|CODING|NM_001492.5|8|1),3_prime_UTR_variant(MODIFIER||1214|c.*622C>T|350|CERS1|protein_coding|CODING|NM_021267.4|8|1),downstream_gene_variant(MODIFIER||1133||1118|UPF1|protein_coding|CODING|NM_002911.3||1),downstream_gene_variant(MODIFIER||1131||1129|UPF1|protein_coding|CODING|NM_001297549.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2096,0.4986,0.3946,,,,,0.332130(U),1.000(P),-1.18(T),0.0000(T),0.087,1.752739,3.33,0.926,-0.546000,-0.047000,0.201000,0.008000,0.001000,0.000000,9.0728
synonymous_variant,CERS1,SILENT,NM_021267.4:p.Ala72Ala/c.216C>G,gcC/gcG,LOW,COSM4131480(4),0.638578,0.373,rs3746263,,,,,,chr19,19006666,19006666,G,C,hom,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala72Ala/c.216C>G|350|CERS1|protein_coding|CODING|NM_021267.4|1|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala72Ala/c.216C>G|337|CERS1|protein_coding|CODING|NM_198207.2|1|1),5_prime_UTR_variant(MODIFIER||25550|c.-1107C>G|372|GDF1|protein_coding|CODING|NM_001492.5|1|1),intron_variant(MODIFIER|||c.-46+704C>G|239|CERS1|protein_coding|CODING|NM_001290265.1|1|1)","K562:H3K4me3,H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,K562:DNase1",,,,0.5051,0.7608,0.7078,,,,,,,,,,,,,,,,,,,
synonymous_variant,COPE,SILENT,NM_007263.3:p.Pro250Pro/c.750A>G,ccA/ccG,LOW,COSM3756514(3),0.36242,0.1915,rs1127821,,,,,,chr19,19011244,19011244,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro250Pro/c.750A>G|308|COPE|protein_coding|CODING|NM_007263.3|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro199Pro/c.597A>G|257|COPE|protein_coding|CODING|NM_199442.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro198Pro/c.594A>G|256|COPE|protein_coding|CODING|NM_199444.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2413,0.5994,0.4841,0.41,0.37,0.44,,,,,,,,,,,,,,,,
missense_variant,HOMER3,MISSENSE,NM_001145722.1:p.Ser342Arg/c.1026C>G,agC/agG,MODERATE,COSM3756515(4),1,1,rs1059240,0.2(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0550(T),,chr19,19040312,19040312,G,C,hom,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser339Arg/c.1017C>G|358|HOMER3|protein_coding|CODING|NM_001145721.1|10|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser342Arg/c.1026C>G|361|HOMER3|protein_coding|CODING|NM_001145722.1|10|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser306Arg/c.918C>G|325|HOMER3|protein_coding|CODING|NM_001145724.1|8|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser342Arg/c.1026C>G|361|HOMER3|protein_coding|CODING|NM_004838.3|10|1),downstream_gene_variant(MODIFIER||870||483|DDX49|protein_coding|CODING|NM_019070.4||1),downstream_gene_variant(MODIFIER||870|||DDX49||CODING|NR_033677.1||1),non_coding_exon_variant(MODIFIER|||n.1679C>G||HOMER3||CODING|NR_027297.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000017(N),1.000(P),"2.36,2.36,2.36,2.36,2.36(T,T,T,T,T)",0.0000(T),0.141,0.791586,4.0,1.51,-0.357000,-0.031000,1.539000,0.176000,0.952000,1.000000,5.2041
synonymous_variant,HOMER3,SILENT,NM_001145722.1:p.Tyr89Tyr/c.267C>T,taC/taT,LOW,COSM4131487(2),0.280551,0.1736,rs1064351,,,,,,chr19,19049198,19049198,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr89Tyr/c.267C>T|358|HOMER3|protein_coding|CODING|NM_001145721.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr89Tyr/c.267C>T|361|HOMER3|protein_coding|CODING|NM_001145722.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr89Tyr/c.267C>T|325|HOMER3|protein_coding|CODING|NM_001145724.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr89Tyr/c.267C>T|361|HOMER3|protein_coding|CODING|NM_004838.3|4|1),non_coding_exon_variant(MODIFIER|||n.920C>T||HOMER3||CODING|NR_027297.1|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2894,0.5231,0.4423,0.34,0.15,0.44,,,,,,,,,,,,,,,,
missense_variant,SUGP2,MISSENSE,NM_001017392.3:p.Gly206Ser/c.616G>A,Ggc/Agc,MODERATE,,0.78774,0.881,rs4808907,0.59(T),"0.001,0.0(B,B)",-0.345(N),-1.0686(T),,chr19,19136541,19136541,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly206Ser/c.616G>A|1082|SUGP2|protein_coding|CODING|NM_001017392.3|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly206Ser/c.616G>A|1082|SUGP2|protein_coding|CODING|NM_014884.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7669,0.8012,0.7684,0.72,0.69,0.74,,0.030830(N),1.000(P),"3.11,3.1,3.11(T,T,T)",0.0000(T),0.052,-1.969664,5.14,-0.724,-0.817000,-0.931000,-0.082000,0.335000,0.000000,0.000000,8.1381
synonymous_variant,TMEM161A,SILENT,NM_017814.2:p.Ala437Ala/c.1311T>C,gcT/gcC,LOW,,0.877596,0.9206,rs756791,,,,,,chr19,19230868,19230868,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala334Ala/c.1002T>C|376|TMEM161A|protein_coding|CODING|NM_001256766.1|10|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala437Ala/c.1311T>C|479|TMEM161A|protein_coding|CODING|NM_017814.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8456,0.8804,0.8459,0.85,0.87,0.83,,,,,,,,,,,,,,,,
synonymous_variant,MEF2B,SILENT,NM_001145785.1:p.Phe250Phe/c.750C>T,ttC/ttT,LOW,COSM3766303(1),0.0267572,0.0357,rs143597015,0.49(T),0.001(B),,-1.1001(T),,chr19,19257383,19257383,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe250Phe/c.750C>T|368|MEF2B|protein_coding|CODING|NM_001145785.1|7|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe250Phe/c.750C>T|365|MEF2BNB-MEF2B|protein_coding|CODING|NM_005919.3|9|1),non_coding_exon_variant(MODIFIER|||n.1655C>T||MEF2BNB-MEF2B||CODING|NR_027307.1|11|1),non_coding_exon_variant(MODIFIER|||n.1655C>T||MEF2BNB-MEF2B||CODING|NR_027308.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0624,0.0202,0.0229,0.01,0.00,0.02,,,0.999(D),,0.0260(T),.,-1.073725,4.88,0.202,-0.219000,0.150000,-0.144000,0.094000,0.871000,0.000000,7.6716
synonymous_variant,RFXANK,SILENT,NM_003721.3:p.Thr71Thr/c.213C>T,acC/acT,LOW,,0.028754,0,rs72997200,,,,,,chr19,19307797,19307797,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr71Thr/c.213C>T|238|RFXANK|protein_coding|CODING|NM_001278727.1|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr71Thr/c.213C>T|260|RFXANK|protein_coding|CODING|NM_003721.3|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr70Thr/c.210C>T|237|RFXANK|protein_coding|CODING|NM_001278728.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr70Thr/c.210C>T|237|RFXANK|protein_coding|CODING|NM_134440.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0593,0.036,0.0596,0.05,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,HAPLN4,SILENT,NM_023002.2:p.Ser238Ser/c.714T>C,agT/agC,LOW,COSM330370(5),0.353035,0.2589,rs2074295,,,,,,chr19,19369435,19369435,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser238Ser/c.714T>C|402|HAPLN4|protein_coding|CODING|NM_023002.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4632,0.3213,0.2117,0.29,0.43,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SUGP1,SILENT,NM_172231.3:p.Tyr455Tyr/c.1365C>T,taC/taT,LOW,COSM439014(2),0.149161,0,rs11555053,,,,,,chr19,19390185,19390185,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr455Tyr/c.1365C>T|645|SUGP1|protein_coding|CODING|NM_172231.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1033,0.1268,0.167,0.20,0.28,0.16,,,,,,,,,,,,,,,,
missense_variant,SUGP1,MISSENSE,NM_172231.3:p.Arg290His/c.869G>A,cGt/cAt,MODERATE,,0.0688898,0,rs17751061,0.06(T),0.999(D),2.28(M),-1.1538(T),,chr19,19413092,19413092,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg290His/c.869G>A|645|SUGP1|protein_coding|CODING|NM_172231.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1022,0.1037,0.164,0.11,0.03,0.16,,0.000000(D),0.000(P),0.93(T),0.0015(T),0.581,4.973750,5.03,5.03,0.563000,2.350000,5.788000,0.985000,0.964000,1.000000,16.9243
synonymous_variant,MAU2,SILENT,NM_015329.3:p.Pro100Pro/c.300G>A,ccG/ccA,LOW,,0.526158,0.6677,rs769267,,,,,,chr19,19446936,19446936,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro100Pro/c.300G>A|613|MAU2|protein_coding|CODING|NM_015329.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4499,0.5432,0.6829,0.58,0.40,0.67,,,,,,,,,,,,,,,,
synonymous_variant,MAU2,SILENT,NM_015329.3:p.Ser163Ser/c.489G>T,tcG/tcT,LOW,,0.524161,0.6677,rs2074090,,,,,,chr19,19449686,19449686,G,T,het,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser163Ser/c.489G>T|613|MAU2|protein_coding|CODING|NM_015329.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4479,0.5418,0.674,0.57,0.40,0.66,,,,,,,,,,,,,,,,
synonymous_variant,GATAD2A,SILENT,NM_001300946.1:p.Ser232Ser/c.696G>A,tcG/tcA,LOW,COSM3756521(3),0.474241,0.3194,rs1047361,,,,,,chr19,19606634,19606634,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser232Ser/c.696G>A|634|GATAD2A|protein_coding|CODING|NM_001300946.1|5|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser232Ser/c.696G>A|633|GATAD2A|protein_coding|CODING|NM_017660.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5368,0.4798,0.325,0.44,0.62,0.35,,,,,,,,,,,,,,,,
synonymous_variant,TSSK6,SILENT,NM_032037.3:p.Tyr230Tyr/c.690T>C,taT/taC,LOW,COSM439019(5),0.474042,0.3194,rs7250893,,,,,,chr19,19625547,19625547,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr230Tyr/c.690T>C|273|TSSK6|protein_coding|CODING|NM_032037.3|1|1),upstream_gene_variant(MODIFIER||1472||144|NDUFA13|protein_coding|CODING|NM_015965.6||1)","K562:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.5348,0.4798,0.325,0.44,0.62,0.35,,,,,,,,,,,,,,,,
synonymous_variant,CILP2,SILENT,NM_153221.2:p.Glu97Glu/c.291A>G,gaA/gaG,LOW,COSM439021(6),0.118411,0,rs4808970,,,,,,chr19,19651140,19651140,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu97Glu/c.291A>G|1156|CILP2|protein_coding|CODING|NM_153221.2|3|1),"K562:Max,H1ESC:USF1,HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,K562:USF1,K562:Cmyc,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:DNase1,K562:DNase1",,,,0.1309,0.1167,0.168,0.14,0.14,0.15,,,,,,,,,,,,,,,,
synonymous_variant,CILP2,SILENT,NM_153221.2:p.Leu346Leu/c.1038G>C,ctG/ctC,LOW,COSM3756524(3),0.254992,0.0308,rs7252453,,,,,,chr19,19654117,19654117,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu346Leu/c.1038G>C|1156|CILP2|protein_coding|CODING|NM_153221.2|7|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2679,0.2248,0.173,0.27,0.44,0.18,,,,,,,,,,,,,,,,
synonymous_variant,CILP2,SILENT,NM_153221.2:p.Ser370Ser/c.1110G>A,tcG/tcA,LOW,COSM1129943(1),0.118411,0,rs45556231,,,,,,chr19,19654189,19654189,G,A,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser370Ser/c.1110G>A|1156|CILP2|protein_coding|CODING|NM_153221.2|7|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1319,0.1167,0.166,0.16,0.16,0.17,,,,,,,,,,,,,,,,
synonymous_variant,CILP2,SILENT,NM_153221.2:p.Ser772Ser/c.2316C>T,tcC/tcT,LOW,COSM3756525(2),0.117013,0,rs11669558,,,,,,chr19,19655670,19655670,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser772Ser/c.2316C>T|1156|CILP2|protein_coding|CODING|NM_153221.2|8|1),NHEK:H3K27me3,,,,0.1063,0.1167,0.166,0.15,0.15,0.15,,,,,,,,,,,,,,,,
synonymous_variant,CILP2,SILENT,NM_153221.2:p.Gly1087Gly/c.3261C>T,ggC/ggT,LOW,,0.116214,0,rs61744761,,,,,,chr19,19656615,19656615,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1087Gly/c.3261C>T|1156|CILP2|protein_coding|CODING|NM_153221.2|8|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1063,0.1167,0.166,0.17,0.17,0.16,,,,,,,,,,,,,,,,
synonymous_variant,LPAR2,SILENT,NM_004720.5:p.Ser288Ser/c.864C>A,tcC/tcA,LOW,,1,1,rs1266503,,,,,,chr19,19735257,19735257,G,T,hom,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser288Ser/c.864C>A|351|LPAR2|protein_coding|CODING|NM_004720.5|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF14,MISSENSE,NM_021030.2:p.Thr274Ser/c.820A>T,Act/Tct,MODERATE,COSM3756527(1),0.182708,0.2649,rs12973901,0.06(T),0.026(B),0.74(N),-0.9840(T),,chr19,19823270,19823270,T,A,het,missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr274Ser/c.820A>T|642|ZNF14|protein_coding|CODING|NM_021030.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2648,0.1657,0.2376,0.19,0.06,0.26,,,0.985(P),1.87(T),0.0000(T),0.061,3.505752,1.8,1.8,0.383000,0.811000,5.501000,0.442000,0.013000,1.000000,7.2278
synonymous_variant,ZNF14,SILENT,NM_021030.2:p.Thr14Thr/c.42C>T,acC/acT,LOW,,0.0349441,0,rs61731046,,,,,,chr19,19825258,19825258,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr14Thr/c.42C>T|642|ZNF14|protein_coding|CODING|NM_021030.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0961,0.0173,0.0497,0.04,0.03,0.05,,,,,,,,,,,,,,,,
synonymous_variant,ZNF253,SILENT,NM_021047.2:p.Pro3Pro/c.9A>G,ccA/ccG,LOW,,0.0820687,0.0129,rs10406883,,,,,,chr19,19989295,19989295,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3Pro/c.9A>G|499|ZNF253|protein_coding|CODING|NM_021047.2|2|1),"K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.0072,0.0389,0.0219,0.09,0.22,0.03,,,,,,,,,,,,,,,,
synonymous_variant,ZNF253,SILENT,NM_021047.2:p.Leu351Leu/c.1053A>G,ctA/ctG,LOW,,0.483626,0.6815,rs8106559,,,,,,chr19,20003109,20003109,A,G,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu351Leu/c.1053A>G|499|ZNF253|protein_coding|CODING|NM_021047.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3466,0.379,0.2376,0.37,0.61,0.24,,,,,,,,,,,,,,,,
missense_variant,ZNF682,MISSENSE,NM_033196.2:p.Val450Ile/c.1348G>A,Gtc/Atc,MODERATE,,0.194688,0.0754,rs17679334,0(D),0.009(B),0.795(N),-0.9534(T),,chr19,20116963,20116963,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val418Ile/c.1252G>A|466|ZNF682|protein_coding|CODING|NM_001077349.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val450Ile/c.1348G>A|498|ZNF682|protein_coding|CODING|NM_033196.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2076,0.1931,0.1779,0.21,0.27,0.17,,,1.000(P),"2.21,2.21,2.21(T,T,T)",0.0000(T),0.011,0.774465,1.09,-0.422,-1.579000,-1.571000,2.720000,0.000000,0.000000,0.147000,8.1706
missense_variant,ZNF682,MISSENSE,NM_033196.2:p.Val65Met/c.193G>A,Gtg/Atg,MODERATE,,0.207867,0.0744,rs7255165,1(T),0.003(B),1.37(L),-0.9163(T),,chr19,20133846,20133846,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val33Met/c.97G>A|466|ZNF682|protein_coding|CODING|NM_001077349.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val65Met/c.193G>A|498|ZNF682|protein_coding|CODING|NM_033196.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.181,0.2003,0.1759,0.23,0.34,0.17,,,1.000(P),"3.43,3.31,3.31(T,T,T)",0.0000(T),0.035,-0.816113,0.898,0.898,0.289000,0.284000,0.727000,0.305000,0.300000,0.051000,4.929
missense_variant,ZNF737,MISSENSE,NM_001159293.1:p.Lys516Glu/c.1546A>G,Aaa/Gaa,MODERATE,,0.417732,0.4395,rs10411329,0(D),0.115(B),1.88(L),-0.9438(T),,chr19,20727463,20727463,T,C,het,missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys516Glu/c.1546A>G|536|ZNF737|protein_coding|CODING|NM_001159293.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4202,0.5202,0.4185,0.37,0.35,0.37,,,0.932(P),1.69(T),0.0000(T),0.083,1.984912,0.801,0.801,0.145000,0.147000,-2.106000,0.282000,0.286000,0.006000,3.7037
synonymous_variant,ZNF737,SILENT,NM_001159293.1:p.His359His/c.1077C>T,caC/caT,LOW,,0.557708,0.6171,rs33926,,,,,,chr19,20727932,20727932,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His359His/c.1077C>T|536|ZNF737|protein_coding|CODING|NM_001159293.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4959,0.5893,0.495,0.51,0.57,0.48,,,,,,,,,,,,,,,,
missense_variant,ZNF626,MISSENSE,NM_001076675.2:p.Lys180Asn/c.540A>C,aaA/aaC,MODERATE,COSM3756533(1),0.0924521,0.0119,rs73002662,0(D),0.983(D),2.665(M),-0.9399(T),,chr19,20808143,20808143,T,G,het,missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys180Asn/c.540A>C|528|ZNF626|protein_coding|CODING|NM_001076675.2|4|1),"H1ESC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.1442,0.0994,0.1083,0.09,0.09,0.09,,,0.000(P),,0.0063(T),0.028,1.521714,0.898,-1.8,-0.805000,-0.808000,-0.876000,0.010000,0.010000,0.000000,4.586
synonymous_variant,ZNF626,SILENT,NM_001076675.2:p.Cys178Cys/c.534T>C,tgT/tgC,LOW,COSM4131522(1),0.779153,0.8343,rs1991528,,,,,,chr19,20808149,20808149,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys178Cys/c.534T>C|528|ZNF626|protein_coding|CODING|NM_001076675.2|4|1),"H1ESC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.8016,0.8804,0.8936,0.80,0.65,0.87,,,,,,,,,,,,,,,,
synonymous_variant,ZNF626,SILENT,NM_001076675.2:p.Tyr103Tyr/c.309T>C,taT/taC,LOW,COSM3756534(1),0.096845,0.0119,rs61741861,,,,,,chr19,20808374,20808374,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr103Tyr/c.309T>C|528|ZNF626|protein_coding|CODING|NM_001076675.2|4|1),"H1ESC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.1442,0.0994,0.1083,0.10,0.10,0.10,,,,,,,,,,,,,,,,
missense_variant,ZNF626,MISSENSE,NM_001076675.2:p.Met65Thr/c.194T>C,aTg/aCg,MODERATE,COSM3756536(1),0.107228,0.0585,rs8106117,0(D),"0.022,0.347(B,B)",0.415(N),-0.9024(T),,chr19,20828522,20828522,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met65Thr/c.194T>C|528|ZNF626|protein_coding|CODING|NM_001076675.2|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met65Thr/c.194T>C|92|ZNF626|protein_coding|CODING|NM_145297.3|3|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3",,,,0.1503,0.0821,0.0984,0.09,0.11,0.08,,,1.000(P),5.64(T),0.0001(T),0.15,-0.718161,0.171,0.171,0.234000,0.237000,0.735000,0.010000,0.009000,0.001000,.
synonymous_variant,ZNF85,SILENT,NM_001256171.1:p.Gln166Gln/c.498A>G,caA/caG,LOW,COSM3756537(1),0.0555112,0.001,rs12972502,,,,,,chr19,21131728,21131728,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln166Gln/c.498A>G|625|ZNF85|protein_coding|CODING|NM_001256171.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln72Gln/c.216A>G|531|ZNF85|protein_coding|CODING|NM_001256173.1|3|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln136Gln/c.408A>G|595|ZNF85|protein_coding|CODING|NM_003429.4|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0869,0.0634,0.1402,0.09,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,ZNF714,MISSENSE,NM_182515.3:p.Lys331Arg/c.992A>G,aAa/aGa,MODERATE,COSM3756538(1),0.669529,0.8611,rs2884554,0.17(T),0.969(D),0.075(N),-0.9665(T),,chr19,21300462,21300462,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys331Arg/c.992A>G|554|ZNF714|protein_coding|CODING|NM_182515.3|5|1),intron_variant(MODIFIER|||n.518-7302A>G||ZNF714||CODING|NR_117088.1|4|1),non_coding_exon_variant(MODIFIER|||n.1389A>G||ZNF714||CODING|NR_117086.1|6|1),non_coding_exon_variant(MODIFIER|||n.1370A>G||ZNF714||CODING|NR_117087.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8497,0.8084,0.8191,0.68,0.35,0.84,,,1.000(P),,0.0000(T),0.164,1.680248,0.955,0.955,0.369000,0.378000,0.131000,0.755000,0.766000,0.000000,4.6997
missense_variant,ZNF708,MISSENSE,NM_021269.2:p.Arg130Gln/c.389G>A,cGg/cAg,MODERATE,COSM3756541(1),0.185503,0.1091,rs504280,1(T),0.0(B),-2.465(N),-1.0045(T),,chr19,21477379,21477379,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg66Gln/c.197G>A|499|ZNF708|protein_coding|CODING|NM_001297560.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg66Gln/c.197G>A|499|ZNF708|protein_coding|CODING|NM_001297561.1|3|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg130Gln/c.389G>A|563|ZNF708|protein_coding|CODING|NM_021269.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2014,0.1816,0.2624,0.22,0.18,0.25,,,1.000(P),1.43(T),0.0000(T),0.012,-2.169809,0.449,-0.883,-0.811000,-0.737000,-0.722000,0.002000,0.002000,0.000000,.
missense_variant,ZNF708,MISSENSE,NM_021269.2:p.Lys113Glu/c.337A>G,Aaa/Gaa,MODERATE,COSM4000604(1),0.621006,0.629,rs1781873,0.5(T),0.008(B),0.13(N),-1.0731(T),,chr19,21477431,21477431,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys49Glu/c.145A>G|499|ZNF708|protein_coding|CODING|NM_001297560.1|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys49Glu/c.145A>G|499|ZNF708|protein_coding|CODING|NM_001297561.1|3|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys113Glu/c.337A>G|563|ZNF708|protein_coding|CODING|NM_021269.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6043,0.562,0.5089,0.58,0.71,0.52,,,1.000(P),3.33(T),0.0000(T),0.058,-0.727862,1.07,-0.564,-0.436000,-0.428000,-0.330000,0.022000,0.023000,0.000000,3.2122
missense_variant,ZNF708,MISSENSE,NM_021269.2:p.Ala71Val/c.212C>T,gCa/gTa,MODERATE,COSM4000605(1),0.898962,0.744,rs547516,1(T),0.0(B),-0.55(N),-1.0019(T),,chr19,21492062,21492062,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala7Val/c.20C>T|499|ZNF708|protein_coding|CODING|NM_001297560.1|3|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala7Val/c.20C>T|499|ZNF708|protein_coding|CODING|NM_001297561.1|2|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala71Val/c.212C>T|563|ZNF708|protein_coding|CODING|NM_021269.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9192,0.8473,0.9692,0.97,0.97,0.98,,,1.000(P),3.29(T),0.0000(T),0.023,-2.210640,0.225,0.225,-0.893000,-0.861000,-0.374000,0.096000,0.093000,0.005000,.
missense_variant,ZNF493,MISSENSE,NM_001076678.2:p.Cys323Phe/c.968G>T,tGt/tTt,MODERATE,COSM4000607(1),0.58766,0.6319,rs4621113,0(D),"1.0,1.0(D,D)",3.495(M),-0.9151(T),,chr19,21606429,21606429,G,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys323Phe/c.968G>T|774|ZNF493|protein_coding|CODING|NM_001076678.2|4|1),missense_variant(MODERATE|MISSENSE|tGt/tTt|p.Cys195Phe/c.584G>T|646|ZNF493|protein_coding|CODING|NM_175910.6|2|1)","H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.5644,0.5476,0.5,0.55,0.63,0.52,,,0.000(P),"-1.94,-1.94(D,D)",0.0000(T),0.099,0.335504,0.985,0.985,0.404000,0.399000,6.598000,0.190000,0.194000,1.000000,8.7583
synonymous_variant,ZNF429,SILENT,NM_001001415.2:p.Phe182Phe/c.546T>C,ttT/ttC,LOW,,0.557708,0.6389,rs35782355,,,,,,chr19,21719401,21719401,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe182Phe/c.546T>C|674|ZNF429|protein_coding|CODING|NM_001001415.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6217,0.5288,0.5388,0.53,0.47,0.56,,,,,,,,,,,,,,,,
synonymous_variant,ZNF100,SILENT,NM_173531.3:p.Thr221Thr/c.663T>G,acT/acG,LOW,COSM3756543(2),0.102636,0.0218,rs35587380,,,,,,chr19,21910451,21910451,A,C,het,synonymous_variant(LOW|SILENT|acT/acG|p.Thr221Thr/c.663T>G|542|ZNF100|protein_coding|CODING|NM_173531.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2188,0.0533,0.0596,0.10,0.15,0.07,,,,,,,,,,,,,,,,
missense_variant,ZNF100,MISSENSE,NM_173531.3:p.Met8Val/c.22A>G,Atg/Gtg,MODERATE,COSM3756544(1),0.0722843,0.0546,rs12974842,0.66(T),0.0(B),-0.345(N),-0.9172(T),,chr19,21948570,21948570,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met8Val/c.22A>G|542|ZNF100|protein_coding|CODING|NM_173531.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2168,0.0432,0.0586,0.06,0.02,0.08,,,1.000(N),3.66(T),0.0004(T),0.068,-3.439773,0.461,-0.922,-0.782000,-0.591000,-1.890000,0.020000,0.001000,0.000000,.
missense_variant,ZNF43,MISSENSE,NM_001256653.1:p.Pro322Ser/c.964C>T,Cct/Tct,MODERATE,,,,,0(D),0.655(P),1.94(M),-1.0319(T),,chr19,21991902,21991902,G,A,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro307Ser/c.919C>T|803|ZNF43|protein_coding|CODING|NM_001256648.1|7|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro307Ser/c.919C>T|803|ZNF43|protein_coding|CODING|NM_001256649.1|7|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro307Ser/c.919C>T|803|ZNF43|protein_coding|CODING|NM_001256650.1|6|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro248Ser/c.742C>T|744|ZNF43|protein_coding|CODING|NM_001256651.1|3|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro322Ser/c.964C>T|818|ZNF43|protein_coding|CODING|NM_001256653.1|4|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro248Ser/c.742C>T|744|ZNF43|protein_coding|CODING|NM_001256654.1|3|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro313Ser/c.937C>T|809|ZNF43|protein_coding|CODING|NM_003423.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,,,,,,,,,0.787(N),2.32(T),0.0659(T),0.116,1.704700,1.61,1.61,0.305000,0.875000,2.809000,0.001000,0.004000,0.790000,10.1332
missense_variant,ZNF208,MISSENSE,NM_007153.3:p.Asp1035Gly/c.3104A>G,gAc/gGc,MODERATE,COSM3756546(2),0.573083,0.6935,rs8108957,1(T),0.0(B),,-0.9767(T),,chr19,22154732,22154732,T,C,het,missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp1035Gly/c.3104A>G|1280|ZNF208|protein_coding|CODING|NM_007153.3|4|1),CD4:H4K20me3,,,,0.3405,0.6326,0.5716,0.59,0.63,0.56,,,1.000(P),3.19(T),0.0000(T),0.111,-1.504888,2.58,-2.26,0.240000,-0.404000,-0.551000,0.133000,0.001000,0.000000,4.8591
missense_variant,ZNF208,MISSENSE,NM_007153.3:p.Ser961Asn/c.2882G>A,aGt/aAt,MODERATE,COSM4000610(1),0.573083,0.6935,rs2214301,0.57(T),,,-0.9829(T),,chr19,22154954,22154954,C,T,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser961Asn/c.2882G>A|1280|ZNF208|protein_coding|CODING|NM_007153.3|4|1),CD4:H4K20me3,,,,0.3405,0.6326,0.5716,0.59,0.64,0.57,,,1.000(P),2.4(T),0.0000(T),0.017,-0.002218,3.0,-6.0,0.109000,-2.641000,-0.748000,0.321000,0.000000,0.000000,2.2281
missense_variant,ZNF208,MISSENSE,NM_007153.3:p.Glu282Lys/c.844G>A,Gag/Aag,MODERATE,COSM3756555(2),0.570887,0.6925,rs2007506,0.08(T),0.863(P),,-0.9832(T),,chr19,22156992,22156992,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu282Lys/c.844G>A|1280|ZNF208|protein_coding|CODING|NM_007153.3|4|1),CD4:H4K20me3,,,,0.3344,0.6311,0.5686,0.58,0.64,0.56,,,0.964(P),1.86(T),0.0000(T),0.076,0.723473,2.89,1.8,0.306000,0.193000,0.011000,0.019000,0.014000,0.002000,6.7724
synonymous_variant,ZNF208,SILENT,NM_007153.3:p.Tyr178Tyr/c.534C>T,taC/taT,LOW,COSM4000615(1),0.572284,0.6925,rs10419899,,,,,,chr19,22157302,22157302,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr178Tyr/c.534C>T|1280|ZNF208|protein_coding|CODING|NM_007153.3|4|1),CD4:H4K20me3,,,,0.3364,0.6326,0.5726,0.59,0.64,0.57,,,,,,,,,,,,,,,,
missense_variant,ZNF676,MISSENSE,NM_001001411.2:p.Glu96Lys/c.286G>A,Gaa/Aaa,MODERATE,COSM3756560(1),0.0872604,0.0446,rs12986319,0.75(T),0.001(B),0.435(N),-0.9145(T),,chr19,22364233,22364233,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu96Lys/c.286G>A|588|ZNF676|protein_coding|CODING|NM_001001411.2|3|1),CD4:H4K20me3,,,,0.0337,0.2017,0.171,0.11,0.05,0.14,,,1.000(P),3.16(T),0.0000(T),0.044,-1.125350,0.398,-0.797,0.186000,-0.683000,-2.465000,0.234000,0.004000,0.000000,4.6493
synonymous_variant,ZNF98,SILENT,NM_001098626.1:p.Lys183Lys/c.549G>A,aaG/aaA,LOW,COSM3756565(3),0.398962,0.4107,rs7247735,,,,,,chr19,22575488,22575488,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys183Lys/c.549G>A|572|ZNF98|protein_coding|CODING|NM_001098626.1|4|1),"CD4:H3K9me3,CD4:H4K20me3",,,,0.2444,0.4784,0.4642,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF98,SILENT,NM_001098626.1:p.Phe51Phe/c.153T>C,ttT/ttC,LOW,COSM3756566(3),0.388379,0.3988,rs1368476,,,,,,chr19,22586192,22586192,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe51Phe/c.153T>C|572|ZNF98|protein_coding|CODING|NM_001098626.1|2|1),,,,,0.2434,0.4769,0.4612,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF728,MISSENSE,NM_001267716.1:p.Tyr218Cys/c.653A>G,tAt/tGt,MODERATE,,0.259585,0.1736,rs289318,,,,,,chr19,23159486,23159486,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr218Cys/c.653A>G|622|ZNF728|protein_coding|CODING|NM_001267716.1|4|1),CD4:H4K20me3,,,,0.1738,0.1441,0.1938,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF730,MISSENSE,NM_001277403.1:p.Ser296Phe/c.887C>T,tCc/tTc,MODERATE,,0.0315495,0.0159,rs112801464,0.65(T),,2.205(M),-1.0159(T),,chr19,23328733,23328733,C,T,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser296Phe/c.887C>T|503|ZNF730|protein_coding|CODING|NM_001277403.1|4|1),"H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me3",,,,0.0286,0.0187,0.0229,,,,,,1.000(N),,0.0119(T),0.058,-1.830864,0.916,-1.83,-0.680000,-0.694000,-3.099000,0.004000,0.004000,0.000000,0.1179
missense_variant,ZNF730,MISSENSE,NM_001277403.1:p.Gly365Glu/c.1094G>A,gGg/gAg,MODERATE,,0.723842,0.8284,rs7247102,1(T),,-2.51(N),-0.9870(T),,chr19,23328940,23328940,G,A,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly365Glu/c.1094G>A|503|ZNF730|protein_coding|CODING|NM_001277403.1|4|1),"H1ESC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me3",,,,0.7986,0.8458,0.7584,,,,,,0.999(P),,0.0000(T),0.053,-1.970189,0.876,0.876,-0.945000,-0.903000,1.959000,0.013000,0.013000,1.000000,4.9153
missense_variant,ZNF91,MISSENSE,NM_003430.3:p.Leu1164Pro/c.3491T>C,cTa/cCa,MODERATE,COSM3756574(1),0.365815,0.369,rs428549,0.02(D),"0.001,0.0(B,B)",-0.345(N),-0.9182(T),,chr19,23542290,23542290,A,G,het,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu1132Pro/c.3395T>C|1159|ZNF91|protein_coding|CODING|NM_001300951.1|3|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu1164Pro/c.3491T>C|1191|ZNF91|protein_coding|CODING|NM_003430.3|4|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.3088,0.1787,0.2505,0.01,0.01,0.00,,,1.000(P),"3.41,3.37(T,T)",0.0000(T),0.051,-0.389649,.,.,-1.895000,-1.871000,-0.260000,0.007000,0.006000,0.224000,1.4642
missense_variant,ZNF91,MISSENSE,NM_003430.3:p.Leu1164Val/c.3490C>G,Cta/Gta,MODERATE,COSM3756575(1),0.365815,0.369,rs385750,0.23(T),"0.0,0.002(B,B)",-0.345(N),-0.9242(T),,chr19,23542291,23542291,G,C,het,"missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu1132Val/c.3394C>G|1159|ZNF91|protein_coding|CODING|NM_001300951.1|3|1),missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu1164Val/c.3490C>G|1191|ZNF91|protein_coding|CODING|NM_003430.3|4|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.3088,0.1787,0.2505,0.01,0.01,0.00,,,1.000(P),"3.5,3.46(T,T)",0.0000(T),0.042,-1.161904,.,.,-1.954000,-1.966000,0.923000,0.006000,0.005000,0.267000,5.7282
synonymous_variant,ZNF91,SILENT,NM_003430.3:p.Gly1028Gly/c.3084C>G,ggC/ggG,LOW,,0.434305,0.1855,rs1821845,,,,,,chr19,23542697,23542697,G,C,het,"synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly996Gly/c.2988C>G|1159|ZNF91|protein_coding|CODING|NM_001300951.1|3|1),synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly1028Gly/c.3084C>G|1191|ZNF91|protein_coding|CODING|NM_003430.3|4|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.499,0.5101,0.6193,0.54,0.43,0.60,,,,,,,,,,,,,,,,
synonymous_variant,ZNF91,SILENT,NM_003430.3:p.Lys649Lys/c.1947G>A,aaG/aaA,LOW,,0.138978,0.0218,rs7255296,,,,,,chr19,23543834,23543834,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys617Lys/c.1851G>A|1159|ZNF91|protein_coding|CODING|NM_001300951.1|3|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys649Lys/c.1947G>A|1191|ZNF91|protein_coding|CODING|NM_003430.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.1237,0.1153,0.1849,0.21,0.20,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ZNF91,SILENT,NM_003430.3:p.Ile259Ile/c.777C>T,atC/atT,LOW,COSM3756577(1),0.311701,0.369,rs296092,,,,,,chr19,23545004,23545004,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile227Ile/c.681C>T|1159|ZNF91|protein_coding|CODING|NM_001300951.1|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile259Ile/c.777C>T|1191|ZNF91|protein_coding|CODING|NM_003430.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2986,0.1571,0.2495,0.30,0.37,0.27,,,,,,,,,,,,,,,,
synonymous_variant,ZNF91,SILENT,NM_003430.3:p.Thr177Thr/c.531T>C,acT/acC,LOW,COSM1392225(1),0.381589,0.1558,rs1044095,,,,,,chr19,23545250,23545250,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr145Thr/c.435T>C|1159|ZNF91|protein_coding|CODING|NM_001300951.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr177Thr/c.531T>C|1191|ZNF91|protein_coding|CODING|NM_003430.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4724,0.4841,0.5964,0.49,0.29,0.58,,,,,,,,,,,,,,,,
missense_variant,ZNF675,MISSENSE,NM_138330.2:p.Val197Ala/c.590T>C,gTg/gCg,MODERATE,,0.372204,0.125,rs11671053,0.02(D),0.101(B),0.925(L),-0.9714(T),,chr19,23837145,23837145,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val197Ala/c.590T>C|568|ZNF675|protein_coding|CODING|NM_138330.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3425,0.4424,0.6173,0.54,0.38,0.62,,,0.996(P),2.45(T),0.0000(T),0.055,1.158276,1.08,-2.16,-0.686000,-0.617000,-0.105000,0.003000,0.003000,0.001000,5.106
missense_variant,ZNF675,MISSENSE,NM_138330.2:p.Leu124Val/c.370T>G,Ttg/Gtg,MODERATE,,0.971246,1,rs4380159,1(T),0.0(B),-1.22(N),-1.0078(T),,chr19,23837365,23837365,A,C,hom,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu124Val/c.370T>G|568|ZNF675|protein_coding|CODING|NM_138330.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.999,0.9914,1,0.97,0.90,1.00,,,1.000(P),3.34(T),0.0000(T),0.061,-2.623684,1.13,-0.447,-0.677000,-1.023000,-0.845000,0.017000,0.001000,0.000000,2.5642
missense_variant,ZNF681,MISSENSE,NM_138286.2:p.Arg367Lys/c.1100G>A,aGa/aAa,MODERATE,,0.977236,1,rs1818990,1(T),0.002(B),-0.57(N),-0.9774(T),,chr19,23927252,23927252,C,T,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg367Lys/c.1100G>A|645|ZNF681|protein_coding|CODING|NM_138286.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.999,0.9942,1,0.97,0.93,1.00,,,1.000(P),"2.15,2.15(T,T)",0.0000(T),0.022,-1.957898,1.64,1.64,-0.516000,-0.078000,-1.472000,0.070000,0.088000,0.000000,1.7607
missense_variant,ZNF681,MISSENSE,NM_138286.2:p.Leu295Ser/c.884T>C,tTa/tCa,MODERATE,,0.977236,1,rs1818989,1(T),0.0(B),-1.87(N),-1.0230(T),,chr19,23927468,23927468,A,G,hom,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu295Ser/c.884T>C|645|ZNF681|protein_coding|CODING|NM_138286.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.999,0.9942,1,0.97,0.92,1.00,,,1.000(P),"2.68,2.68(T,T)",0.0000(T),0.027,-2.237645,1.64,1.64,-0.349000,0.029000,-0.988000,0.001000,0.001000,0.000000,6.0174
missense_variant,ZNF681,MISSENSE,NM_138286.2:p.Asp84His/c.250G>C,Gac/Cac,MODERATE,,0.977236,1,rs7248674,0.11(T),0.38(B),2.08(M),-1.0320(T),,chr19,23928102,23928102,C,G,hom,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp84His/c.250G>C|645|ZNF681|protein_coding|CODING|NM_138286.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9942,1,0.98,0.93,1.00,,,0.998(P),"3.17,2.54,5.9,6.26(T,T,T,T)",0.0000(T),0.26,1.419622,0.86,0.86,0.306000,0.300000,0.185000,0.695000,0.696000,0.026000,4.9378
missense_variant,ZNF254,MISSENSE,NM_203282.3:p.Leu142Val/c.424C>G,Ctt/Gtt,MODERATE,,,,,0.3(T),0.056(B),1.98(M),-0.9753(T),,chr19,24309226,24309226,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu101Val/c.301C>G|618|ZNF254|protein_coding|CODING|NM_001278661.1|5|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu101Val/c.301C>G|618|ZNF254|protein_coding|CODING|NM_001278662.1|5|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu57Val/c.169C>G|574|ZNF254|protein_coding|CODING|NM_001278663.1|3|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu69Val/c.205C>G|586|ZNF254|protein_coding|CODING|NM_001278664.1|3|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu101Val/c.301C>G|618|ZNF254|protein_coding|CODING|NM_001278677.1|6|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu57Val/c.169C>G|574|ZNF254|protein_coding|CODING|NM_001278678.1|2|1),missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu142Val/c.424C>G|659|ZNF254|protein_coding|CODING|NM_203282.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),"3.11,3.31(T,T)",0.0212(T),0.044,-1.164545,0.534,0.534,0.313000,0.536000,-0.124000,0.197000,0.011000,0.119000,3.5342
missense_variant,ZNF254,MISSENSE,NM_203282.3:p.Lys292Asn/c.876A>C,aaA/aaC,MODERATE,,0.000998403,0,rs142844114,0.03(D),0.098(B),2.23(M),-1.0125(T),,chr19,24309678,24309678,A,C,het,"missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys251Asn/c.753A>C|618|ZNF254|protein_coding|CODING|NM_001278661.1|5|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys251Asn/c.753A>C|618|ZNF254|protein_coding|CODING|NM_001278662.1|5|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys207Asn/c.621A>C|574|ZNF254|protein_coding|CODING|NM_001278663.1|3|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys219Asn/c.657A>C|586|ZNF254|protein_coding|CODING|NM_001278664.1|3|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys251Asn/c.753A>C|618|ZNF254|protein_coding|CODING|NM_001278677.1|6|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys207Asn/c.621A>C|574|ZNF254|protein_coding|CODING|NM_001278678.1|2|1),missense_variant(MODERATE|MISSENSE|aaA/aaC|p.Lys292Asn/c.876A>C|659|ZNF254|protein_coding|CODING|NM_203282.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0041,0,0.001,0.00,0.00,0.00,,,1.000(N),"1.76,1.76(T,T)",0.0580(T),0.062,2.121781,1.11,-1.41,0.254000,-0.571000,0.716000,0.053000,0.003000,0.397000,4.1234
synonymous_variant,UQCRFS1,SILENT,NM_006003.2:p.Ser8Ser/c.24A>G,tcA/tcG,LOW,COSM4131595(1),0.954673,0.999,rs11666764,,,,,,chr19,29704002,29704002,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser8Ser/c.24A>G|274|UQCRFS1|protein_coding|CODING|NM_006003.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,K562:DNase1",,,,0.9785,0.9294,0.9195,,,,,,,,,,,,,,,,,,,
missense_variant,UQCRFS1,MISSENSE,NM_006003.2:p.Ser6Ala/c.16T>G,Tcc/Gcc,MODERATE,COSM4131596(1),0.953874,0.999,rs8100724,1(T),0.0(B),-1.245(N),-0.9934(T),,chr19,29704010,29704010,A,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser6Ala/c.16T>G|274|UQCRFS1|protein_coding|CODING|NM_006003.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,GM12878:USF1,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:USF1,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,K562:DNase1",,,,0.9785,0.9265,0.9165,,,,,0.000544(N),1.000(P),1.25(T),0.0000(T),0.048,-1.301919,4.42,-0.0799,-1.900000,-0.304000,0.594000,0.005000,0.510000,0.363000,4.4059
synonymous_variant,VSTM2B,SILENT,NM_001146339.1:p.Ala232Ala/c.696G>C,gcG/gcC,LOW,,,,,,,,,,chr19,30021124,30021124,G,C,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala232Ala/c.696G>C|285|VSTM2B|protein_coding|CODING|NM_001146339.1|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,C19orf12,SILENT,NM_001031726.3:p.Thr119Thr/c.357C>T,acC/acT,LOW,COSM4131597(1),0.613818,0.3006,rs10424582,,,,,,chr19,30193721,30193721,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr119Thr/c.357C>T|152|C19orf12|protein_coding|CODING|NM_001031726.3|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr108Thr/c.324C>T|141|C19orf12|protein_coding|CODING|NM_001256047.1|3|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr44Thr/c.132C>T|77|C19orf12|protein_coding|CODING|NM_001282929.1|2|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr44Thr/c.132C>T|77|C19orf12|protein_coding|CODING|NM_001282930.1|2|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr44Thr/c.132C>T|77|C19orf12|protein_coding|CODING|NM_001282931.1|4|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr108Thr/c.324C>T|141|C19orf12|protein_coding|CODING|NM_031448.4|3|1),intron_variant(MODIFIER|||c.291-22C>T|107|C19orf12|protein_coding|CODING|NM_001256046.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116507.1,,0.6166,0.5216,0.7565,0.75,0.77,0.74,,,,,,,,,,,,,,,,
synonymous_variant,CCNE1,SILENT,NM_001238.2:p.Ser405Ser/c.1215C>T,agC/agT,LOW,,0.192891,0.1012,rs7257694,,,,,,chr19,30314666,30314666,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser405Ser/c.1215C>T|410|CCNE1|protein_coding|CODING|NM_001238.2|12|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2382,0.2378,0.3549,0.30,0.11,0.39,,,,,,,,,,,,,,,,
synonymous_variant,URI1,SILENT,NM_003796.3:p.Arg34Arg/c.102C>G,cgC/cgG,LOW,,0.00339457,0,rs200928000,0.07(T),0.003(B),,-1.0231(T),,chr19,30433556,30433556,C,G,het,"synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg34Arg/c.102C>G|535|URI1|protein_coding|CODING|NM_003796.3|1|1),intron_variant(MODIFIER|||c.63+18895C>G|475|URI1|protein_coding|CODING|NM_001252641.1|1|1),non_coding_exon_variant(MODIFIER|||n.411C>G||URI1||CODING|NR_045557.1|1|1)","K562:ZBTB7A,GM12878:Cmyc,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,K562:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0,0.0101,0.0099,0.01,0.00,0.01,,,1.000(D),,0.0734(T),.,1.287446,3.32,-2.44,0.305000,-0.108000,-0.249000,0.957000,0.995000,0.990000,1.3928
synonymous_variant,ZNF536,SILENT,NM_014717.1:p.Asp823Asp/c.2469T>C,gaT/gaC,LOW,COSM4131602(1),0.377796,0.3185,rs1469705,,,,,,chr19,31038995,31038995,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp823Asp/c.2469T>C|1300|ZNF536|protein_coding|CODING|NM_014717.1|4|1),"K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3395,0.3718,0.3111,0.34,0.49,0.27,,,,,,,,,,,,,,,,
synonymous_variant,THEG5,SILENT,NM_001205273.2:p.Thr66Thr/c.198T>C,acT/acC,LOW,,0.983626,0.998,rs7245697,,,,,,chr19,32083696,32083696,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr58Thr/c.174T>C|140|THEG5|protein_coding|CODING|NM_001278575.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr58Thr/c.174T>C|140|THEG5|protein_coding|CODING|NM_001278576.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr58Thr/c.174T>C|140|THEG5|protein_coding|CODING|NM_001278577.1|4|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr58Thr/c.174T>C|140|THEG5|protein_coding|CODING|NM_001278578.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr66Thr/c.198T>C|148|THEG5|protein_coding|CODING|NM_001205273.2|2|1)",,,,,0.9877,0.9395,0.9771,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF507,SILENT,NM_001136156.1:p.Ser857Ser/c.2571A>G,tcA/tcG,LOW,,0.911741,0.8234,rs2270399,,,,,,chr19,32873698,32873698,A,G,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser857Ser/c.2571A>G|953|ZNF507|protein_coding|CODING|NM_001136156.1|7|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser857Ser/c.2571A>G|953|ZNF507|protein_coding|CODING|NM_014910.4|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8875,0.9222,0.9056,0.93,0.98,0.90,,,,,,,,,,,,,,,,
synonymous_variant,DPY19L3,SILENT,NM_001172774.1:p.Ala216Ala/c.648G>A,gcG/gcA,LOW,COSM4000648(1),0.546725,0.6399,rs6510249,,,,,,chr19,32930069,32930069,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala216Ala/c.648G>A|716|DPY19L3|protein_coding|CODING|NM_001172774.1|7|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala216Ala/c.648G>A|716|DPY19L3|protein_coding|CODING|NM_207325.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.591,0.4294,0.6402,0.57,0.47,0.62,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD27,SILENT,NM_032139.2:p.Tyr816Tyr/c.2448C>T,taC/taT,LOW,,0.234625,0.3393,rs386608679,,,,,,chr19,33096786,33096786,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr816Tyr/c.2448C>T|1050|ANKRD27|protein_coding|CODING|NM_032139.2|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1677,0.1427,0.1153,0.19,0.31,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD27,SILENT,NM_032139.2:p.Lys806Lys/c.2418G>A,aaG/aaA,LOW,COSM84514(1),0.18151,0.2262,rs7248273,,,,,,chr19,33096816,33096816,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys806Lys/c.2418G>A|1050|ANKRD27|protein_coding|CODING|NM_032139.2|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1421,0.1297,0.1113,0.15,0.22,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ANKRD27,SILENT,NM_032139.2:p.Ala706Ala/c.2118G>A,gcG/gcA,LOW,COSM3756596(1),0.480831,0.3175,rs405858,,,,,,chr19,33106621,33106621,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala706Ala/c.2118G>A|1050|ANKRD27|protein_coding|CODING|NM_032139.2|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5266,0.4755,0.662,0.61,0.47,0.68,,,,,,,,,,,,,,,,
missense_variant,RGS9BP,MISSENSE,NM_207391.2:p.Ala96Ser/c.286G>T,Gcg/Tcg,MODERATE,COSM3749494(5),0.434904,0.2579,rs259290,0.21(T),0.638(P),0.83(L),-1.0544(T),,chr19,33167455,33167455,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala96Ser/c.286G>T|235|RGS9BP|protein_coding|CODING|NM_207391.2|1|1),upstream_gene_variant(MODIFIER||1353||1050|ANKRD27|protein_coding|CODING|NM_032139.2||1)","NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,CD4:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:CTCF",,RCV000082841.1,,0.4611,0.4856,0.6233,0.66,0.53,0.71,,0.000009(U),0.000(P),1.4(T),0.0000(T),0.097,2.815844,4.57,3.5,0.313000,1.092000,4.816000,0.125000,1.000000,1.000000,13.7833
missense_variant,NUDT19,MISSENSE,NM_001105570.1:p.Arg43Trp/c.127C>T,Cgg/Tgg,MODERATE,,0.00119808,0,rs200386314,0(D),0.986(D),2.645(M),-0.6246(T),,chr19,33182993,33182993,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg43Trp/c.127C>T|375|NUDT19|protein_coding|CODING|NM_001105570.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.001,0.0014,0.004,0.01,0.00,0.01,,0.007594(U),0.565(D),1.71(T),0.1234(T),0.558,5.001995,4.27,3.14,0.313000,2.353000,1.856000,0.284000,0.907000,0.986000,12.4502
missense_variant,NUDT19,MISSENSE,NM_001105570.1:p.Arg142Gln/c.425G>A,cGg/cAg,MODERATE,COSM1750802(1),0.187101,0.2123,rs8108621,0.48(T),0.336(B),2.07(M),-1.0584(T),,chr19,33183291,33183291,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg142Gln/c.425G>A|375|NUDT19|protein_coding|CODING|NM_001105570.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.1278,0.0994,0.1779,0.18,0.23,0.16,,0.159518(U),0.790(P),0.84(T),0.0000(T),0.107,1.771859,4.59,0.0737,-1.080000,0.263000,0.095000,0.006000,0.837000,0.203000,2.0732
synonymous_variant,NUDT19,SILENT,NM_001105570.1:p.Pro150Pro/c.450A>G,ccA/ccG,LOW,,0.175919,0.2153,rs8109823,,,,,,chr19,33183316,33183316,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro150Pro/c.450A>G|375|NUDT19|protein_coding|CODING|NM_001105570.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.1278,0.0965,0.1779,0.14,0.16,0.13,,,,,,,,,,,,,,,,
synonymous_variant,NUDT19,SILENT,NM_001105570.1:p.Pro162Pro/c.486G>C,ccG/ccC,LOW,COSM4131608(1),0.221446,0.249,rs61732600,,,,,,chr19,33183352,33183352,G,C,het,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro162Pro/c.486G>C|375|NUDT19|protein_coding|CODING|NM_001105570.1|1|1),"H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.1861,0.245,0.3062,0.22,0.14,0.26,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A9,SILENT,NM_001126335.1:p.Ala381Ala/c.1143C>T,gcC/gcT,LOW,COSM3756600(1),0.248203,0.2321,rs2287881,,,,,,chr19,33333155,33333155,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala381Ala/c.1143C>T|487|SLC7A9|protein_coding|CODING|NM_001126335.1|11|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala381Ala/c.1143C>T|487|SLC7A9|protein_coding|CODING|NM_001243036.1|11|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala381Ala/c.1143C>T|487|SLC7A9|protein_coding|CODING|NM_014270.4|11|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2556,0.1239,0.2147,0.23,0.31,0.20,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A9,SILENT,NM_001126335.1:p.Leu229Leu/c.687C>T,ctC/ctT,LOW,COSM3756601(2),0.278155,0.3046,rs1007161,,,,,,chr19,33353041,33353041,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu229Leu/c.687C>T|487|SLC7A9|protein_coding|CODING|NM_001126335.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu229Leu/c.687C>T|487|SLC7A9|protein_coding|CODING|NM_001243036.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu229Leu/c.687C>T|487|SLC7A9|protein_coding|CODING|NM_014270.4|6|1)",HepG2:H3K36me3,,,,0.1973,0.1772,0.3668,0.33,0.31,0.34,,,,,,,,,,,,,,,,
missense_variant,SLC7A9,MISSENSE,NM_001126335.1:p.Leu223Met/c.667C>A,Ctg/Atg,MODERATE,COSM3756602(3),0.278155,0.3046,rs1007160,0.07(T),0.574(P),2.245(M),-1.1856(T),,chr19,33353061,33353061,G,T,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu223Met/c.667C>A|487|SLC7A9|protein_coding|CODING|NM_001126335.1|6|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu223Met/c.667C>A|487|SLC7A9|protein_coding|CODING|NM_001243036.1|6|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu223Met/c.667C>A|487|SLC7A9|protein_coding|CODING|NM_014270.4|6|1)",HepG2:H3K36me3,,,,0.1973,0.1772,0.3668,0.33,0.31,0.34,,0.000000(D),0.000(P),-2.77(D),0.0000(T),0.312,2.081948,5.12,4.07,0.561000,2.553000,1.765000,0.430000,0.970000,0.977000,7.8546
synonymous_variant,SLC7A9,SILENT,NM_001126335.1:p.Ser169Ser/c.507C>T,agC/agT,LOW,COSM3756603(1),0.279952,0.3046,rs11084673,,,,,,chr19,33353464,33353464,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser169Ser/c.507C>T|487|SLC7A9|protein_coding|CODING|NM_001126335.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser169Ser/c.507C>T|487|SLC7A9|protein_coding|CODING|NM_001243036.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser169Ser/c.507C>T|487|SLC7A9|protein_coding|CODING|NM_014270.4|5|1)","GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.1973,0.1816,0.3738,0.33,0.31,0.34,,,,,,,,,,,,,,,,
missense_variant,SLC7A9,MISSENSE,NM_001126335.1:p.Val142Ala/c.425T>C,gTg/gCg,MODERATE,COSM3756604(1),0.30611,0.3036,rs12150889,0.11(T),0.0(B),-0.085(N),-1.0356(T),,chr19,33355055,33355055,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val142Ala/c.425T>C|487|SLC7A9|protein_coding|CODING|NM_001126335.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val142Ala/c.425T>C|487|SLC7A9|protein_coding|CODING|NM_001243036.1|4|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val142Ala/c.425T>C|487|SLC7A9|protein_coding|CODING|NM_014270.4|4|1)","K562:H3K27me3,HepG2:H3K36me3",,,,0.1984,0.196,0.3757,0.36,0.38,0.35,,0.107646(N),1.000(P),-2.56(D),0.0000(T),0.013,1.599231,4.97,1.28,-2.888000,-0.010000,3.365000,0.000000,0.001000,0.989000,10.5362
synonymous_variant,SLC7A9,SILENT,NM_001126335.1:p.Ser133Ser/c.399C>T,tcC/tcT,LOW,COSM3756606(1),0.211462,0.1994,rs35170371,,,,,,chr19,33355081,33355081,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser133Ser/c.399C>T|487|SLC7A9|protein_coding|CODING|NM_001126335.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser133Ser/c.399C>T|487|SLC7A9|protein_coding|CODING|NM_001243036.1|4|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser133Ser/c.399C>T|487|SLC7A9|protein_coding|CODING|NM_014270.4|4|1)","K562:H3K27me3,HepG2:H3K36me3",,,,0.1544,0.1124,0.2207,0.23,0.29,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CEP89,SILENT,NM_032816.3:p.Asn614Asn/c.1842C>T,aaC/aaT,LOW,,0.930112,0.8988,rs10418340,,,,,,chr19,33390796,33390796,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn614Asn/c.1842C>T|783|CEP89|protein_coding|CODING|NM_032816.3|16|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9591,0.9308,0.8529,0.90,0.97,0.86,,,,,,,,,,,,,,,,
missense_variant,CEP89,MISSENSE,NM_032816.3:p.Val398Ala/c.1193T>C,gTc/gCc,MODERATE,,0.288738,0.501,rs4805825,0.32(T),"0.006,0.009(B,B)",1.735(L),-0.9270(T),,chr19,33414420,33414420,A,G,het,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val398Ala/c.1193T>C|783|CEP89|protein_coding|CODING|NM_032816.3|12|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2658,0.2493,0.2167,0.20,0.21,0.20,,0.053115(N),0.000(P),0.72(T),0.0000(T),0.182,1.570529,5.12,3.02,0.529000,0.817000,3.189000,0.993000,0.997000,1.000000,7.8251
synonymous_variant,C19orf40,SILENT,NM_152266.4:p.Glu139Glu/c.417G>A,gaG/gaA,LOW,COSM3756611(1),0.423922,0.4365,rs2304102,,,,,,chr19,33467357,33467357,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu44Glu/c.132G>A|120|C19orf40|protein_coding|CODING|NM_001300978.1|3|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu139Glu/c.417G>A|215|C19orf40|protein_coding|CODING|NM_152266.4|5|1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,HMEC:CTCF,NH-A:CTCF,K562:Rad21,NHEK:H3K36me3,CD4:CTCF,HUVEC:FAIRE,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,HMEC:DNase1,GM06990:H3K36me3,HepG2:Rad21,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.363,0.6023,0.3757,0.38,0.40,0.37,,,,,,,,,,,,,,,,
missense_variant,C19orf40,MISSENSE,NM_152266.4:p.Ile192Thr/c.575T>C,aTt/aCt,MODERATE,,0.189696,0.3403,rs3816032,0.6(T),0.008(B),1.5(L),-1.0032(T),,chr19,33467515,33467515,T,C,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile97Thr/c.290T>C|120|C19orf40|protein_coding|CODING|NM_001300978.1|3|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile192Thr/c.575T>C|215|C19orf40|protein_coding|CODING|NM_152266.4|5|1),downstream_gene_variant(MODIFIER||1983||686|RHPN2|protein_coding|CODING|NM_033103.4||1)","NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HeLa-S3:CTCF,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,HepG2:Rad21,NHEK:DNase1,GM06990:CTCF",,,,0.3088,0.1297,0.1074,0.11,0.08,0.12,,0.402217(N),1.000(P),,0.0000(T),0.055,0.011771,5.35,3.21,0.472000,0.383000,1.380000,0.007000,0.001000,0.002000,10.0263
synonymous_variant,C19orf40,SILENT,NM_152266.4:p.Thr212Thr/c.636G>A,acG/acA,LOW,,0.26877,0.1647,rs7258185,,,,,,chr19,33467576,33467576,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr117Thr/c.351G>A|120|C19orf40|protein_coding|CODING|NM_001300978.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr212Thr/c.636G>A|215|C19orf40|protein_coding|CODING|NM_152266.4|5|1),downstream_gene_variant(MODIFIER||1922||686|RHPN2|protein_coding|CODING|NM_033103.4||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2566,0.4366,0.2157,0.25,0.30,0.23,,,,,,,,,,,,,,,,
synonymous_variant,RHPN2,SILENT,NM_033103.4:p.Ala427Ala/c.1281C>G,gcC/gcG,LOW,,0.591853,0.6032,rs12610600,,,,,,chr19,33487071,33487071,G,C,het,synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala427Ala/c.1281C>G|686|RHPN2|protein_coding|CODING|NM_033103.4|11|1),"H1ESC:H3K36me3,K562:USF1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5266,0.4769,0.4662,0.58,0.76,0.49,,,,,,,,,,,,,,,,
missense_variant,RHPN2,MISSENSE,NM_033103.4:p.Gln384Arg/c.1151A>G,cAg/cGg,MODERATE,COSM1480906(6),0.278155,0.2401,rs201801079,0.2(T),0.982(D),2.34(M),-1.0241(T),,chr19,33490566,33490566,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln384Arg/c.1151A>G|686|RHPN2|protein_coding|CODING|NM_033103.4|10|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.32,0.2176,0.2883,,,,,0.000000(D),1.000(D),"2.26,2.26(T,T)",0.1116(T),0.724,4.389444,4.72,4.72,0.397000,1.765000,7.278000,0.960000,1.000000,1.000000,14.2054
synonymous_variant,RHPN2,SILENT,NM_033103.4:p.Cys234Cys/c.702T>C,tgT/tgC,LOW,,0.419329,0.2272,rs2163807,,,,,,chr19,33498978,33498978,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys234Cys/c.702T>C|686|RHPN2|protein_coding|CODING|NM_033103.4|7|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5358,0.3228,0.4652,0.46,0.48,0.45,,,,,,,,,,,,,,,,
synonymous_variant,GPATCH1,SILENT,NM_018025.2:p.Ser54Ser/c.162T>C,agT/agC,LOW,,0.533946,0.5099,rs7259333,,,,,,chr19,33579128,33579128,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser54Ser/c.162T>C|931|GPATCH1|protein_coding|CODING|NM_018025.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6728,0.2867,0.2416,0.42,0.73,0.27,,,,,,,,,,,,,,,,
missense_variant,GPATCH1,MISSENSE,NM_018025.2:p.Leu476Pro/c.1427T>C,cTc/cCc,MODERATE,,0.533546,0.5079,rs2287679,0.28(T),0.001(B),-1.03(N),-0.9970(T),,chr19,33600764,33600764,T,C,het,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu476Pro/c.1427T>C|931|GPATCH1|protein_coding|CODING|NM_018025.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6748,0.2867,0.2416,0.42,0.73,0.27,,0.445174(N),0.989(P),1.54(T),0.0000(T),0.031,-0.214135,5.74,5.74,-0.119000,1.454000,1.138000,0.004000,0.127000,0.001000,9.4371
synonymous_variant,GPATCH1,SILENT,NM_018025.2:p.His571His/c.1713C>T,caC/caT,LOW,,0.203474,0.3333,rs10420258,,,,,,chr19,33602757,33602757,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His571His/c.1713C>T|931|GPATCH1|protein_coding|CODING|NM_018025.2|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3211,0.1254,0.1382,0.14,0.11,0.16,,,,,,,,,,,,,,,,
missense_variant,GPATCH1,MISSENSE,NM_018025.2:p.His724Arg/c.2171A>G,cAt/cGt,MODERATE,COSM4131613(1),0.592452,0.8433,rs10416265,0.56(T),"0.0,0.0(B,B)",0.69(N),-1.0151(T),,chr19,33605300,33605300,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His724Arg/c.2171A>G|931|GPATCH1|protein_coding|CODING|NM_018025.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6912,0.3386,0.2475,0.41,0.67,0.27,,0.048608(N),1.000(P),2.08(T),0.0000(T),0.025,-0.072520,5.32,-8.87,-0.748000,-2.702000,-1.933000,0.001000,0.000000,0.000000,9.3731
missense_variant,GPATCH1,MISSENSE,NM_018025.2:p.Leu728Ser/c.2183T>C,tTa/tCa,MODERATE,COSM3756612(1),0.770168,0.9901,rs10421769,0.75(T),"0.0,0.0(B,B)",-1.39(N),-0.9795(T),,chr19,33605312,33605312,T,C,het,missense_variant(MODERATE|MISSENSE|tTa/tCa|p.Leu728Ser/c.2183T>C|931|GPATCH1|protein_coding|CODING|NM_018025.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7556,0.7017,0.3489,0.54,0.87,0.36,,0.334384(N),1.000(P),2.25(T),0.0000(T),0.018,-0.074302,5.32,5.32,-0.128000,1.248000,2.751000,0.003000,0.002000,0.012000,11.6747
synonymous_variant,LRP3,SILENT,NM_002333.3:p.Thr51Thr/c.153G>A,acG/acA,LOW,,0.0523163,0.121,rs1056034,,,,,,chr19,33693785,33693785,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr51Thr/c.153G>A|770|LRP3|protein_coding|CODING|NM_002333.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0204,0.0793,0.0447,0.05,0.03,0.05,,,,,,,,,,,,,,,,
synonymous_variant,LRP3,SILENT,NM_002333.3:p.Arg226Arg/c.678C>T,cgC/cgT,LOW,COSM3766318(1),0.0505192,0.121,rs3745977,,,,,,chr19,33696354,33696354,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg226Arg/c.678C>T|770|LRP3|protein_coding|CODING|NM_002333.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0204,0.0764,0.0447,0.04,0.02,0.05,,,,,,,,,,,,,,,,
synonymous_variant,LRP3,SILENT,NM_002333.3:p.Gly315Gly/c.945C>T,ggC/ggT,LOW,,0.0503195,0.12,rs3745975,,,,,,chr19,33696621,33696621,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly315Gly/c.945C>T|770|LRP3|protein_coding|CODING|NM_002333.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0204,0.0764,0.0447,0.04,0.02,0.05,,,,,,,,,,,,,,,,
synonymous_variant,LRP3,SILENT,NM_002333.3:p.Thr344Thr/c.1032T>C,acT/acC,LOW,COSM3756619(6),0.678714,0.3998,rs2112800,,,,,,chr19,33696708,33696708,T,C,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr344Thr/c.1032T>C|770|LRP3|protein_coding|CODING|NM_002333.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8221,0.7334,0.8489,0.78,0.66,0.84,,,,,,,,,,,,,,,,
synonymous_variant,LRP3,SILENT,NM_002333.3:p.Phe544Phe/c.1632C>T,ttC/ttT,LOW,,0.0505192,0.121,rs1056041,,,,,,chr19,33697546,33697546,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe544Phe/c.1632C>T|770|LRP3|protein_coding|CODING|NM_002333.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0204,0.0764,0.0447,0.04,0.02,0.05,,,,,,,,,,,,,,,,
missense_variant,LRP3,MISSENSE,NM_002333.3:p.Val708Ala/c.2123T>C,gTa/gCa,MODERATE,COSM3756624(4),0.729233,0.5198,rs3745974,0.94(T),0.0(B),0(N),-0.9332(T),,chr19,33698291,33698291,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val708Ala/c.2123T>C|770|LRP3|protein_coding|CODING|NM_002333.3|7|1),downstream_gene_variant(MODIFIER||1279||523|SLC7A10|protein_coding|CODING|NM_019849.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8446,0.8098,0.8936,0.83,0.70,0.90,,0.019016(N),1.000(P),-2.03(D),0.0000(T),0.022,-2.078493,4.46,-3.95,-0.642000,-1.204000,-0.399000,0.078000,0.001000,0.120000,1.0113
synonymous_variant,SLC7A10,SILENT,NM_019849.2:p.Thr458Thr/c.1374G>T,acG/acT,LOW,COSM148587(1),0.0499201,0.122,rs2303094,,,,,,chr19,33700281,33700281,C,A,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr458Thr/c.1374G>T|523|SLC7A10|protein_coding|CODING|NM_019849.2|10|1),downstream_gene_variant(MODIFIER||508||770|LRP3|protein_coding|CODING|NM_002333.3||1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,,,0.0215,0.0764,0.0427,0.04,0.02,0.05,,,,,,,,,,,,,,,,
synonymous_variant,PEPD,SILENT,NM_000285.3:p.His377His/c.1131C>T,caC/caT,LOW,,0.0984425,0.2192,rs17569,,,,,,chr19,33882222,33882222,G,A,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His377His/c.1131C>T|493|PEPD|protein_coding|CODING|NM_000285.3|13|1),synonymous_variant(LOW|SILENT|caC/caT|p.His336His/c.1008C>T|452|PEPD|protein_coding|CODING|NM_001166056.1|11|1),synonymous_variant(LOW|SILENT|caC/caT|p.His313His/c.939C>T|429|PEPD|protein_coding|CODING|NM_001166057.1|11|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.0859,0.0562,0.1392,0.11,0.02,0.15,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0355,SILENT,NM_014686.3:p.Asp965Asp/c.2895T>C,gaT/gaC,LOW,COSM4131629(1),0.602636,0.8155,rs386589458,,,,,,chr19,34842488,34842488,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp965Asp/c.2895T>C|1070|KIAA0355|protein_coding|CODING|NM_014686.3|13|1),"H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3",,,,0.5583,0.4049,0.3897,0.45,0.64,0.36,,,,,,,,,,,,,,,,
synonymous_variant,KIAA0355,SILENT,NM_014686.3:p.Pro1038Pro/c.3114C>A,ccC/ccA,LOW,COSM3756632(2),0.629792,0.8165,rs397414,,,,,,chr19,34843761,34843761,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro1038Pro/c.3114C>A|1070|KIAA0355|protein_coding|CODING|NM_014686.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5613,0.4179,0.3907,0.51,0.76,0.39,,,,,,,,,,,,,,,,
synonymous_variant,UBA2,SILENT,NM_005499.2:p.Ser592Ser/c.1776A>G,tcA/tcG,LOW,,0.79393,0.8383,rs7259160,,,,,,chr19,34959979,34959979,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser592Ser/c.1776A>G|640|UBA2|protein_coding|CODING|NM_005499.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6728,0.8617,0.8807,0.84,0.78,0.88,,,,,,,,,,,,,,,,
synonymous_variant,WTIP,SILENT,NM_001080436.1:p.Arg5Arg/c.13A>C,Agg/Cgg,LOW,COSM4131635(2),0.663339,0.8175,rs12609305,,,,,,chr19,34972892,34972892,A,C,hom,synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg5Arg/c.13A>C|430|WTIP|protein_coding|CODING|NM_001080436.1|1|1),"H1ESC:PolII,H1ESC:H3K9ac,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6667,0.8458,0.8777,,,,,,,,,,,,,,,,,,,
synonymous_variant,WTIP,SILENT,NM_001080436.1:p.Ala178Ala/c.534T>C,gcT/gcC,LOW,,1,1,rs1465433,,,,,,chr19,34973413,34973413,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala178Ala/c.534T>C|430|WTIP|protein_coding|CODING|NM_001080436.1|1|1),"H1ESC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,WTIP,SILENT,NM_001080436.1:p.Glu199Glu/c.597G>A,gaG/gaA,LOW,COSM4131637(4),0.608826,0.7996,rs8107479,,,,,,chr19,34973476,34973476,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu199Glu/c.597G>A|430|WTIP|protein_coding|CODING|NM_001080436.1|1|1),"H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HepG2:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.6237,0.7017,0.8221,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF302,MISSENSE,NM_001289181.1:p.Tyr133Cys/c.398A>G,tAt/tGt,MODERATE,COSM3756634(2),0.250599,0.3006,rs2290652,0.12(T),"0.99,0.998(D,D)",,-0.9038(T),,chr19,35175208,35175208,A,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr89Cys/c.266A>G|399|ZNF302|protein_coding|CODING|NM_001012320.2|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr133Cys/c.398A>G|443|ZNF302|protein_coding|CODING|NM_001289181.1|6|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr90Cys/c.269A>G|400|ZNF302|protein_coding|CODING|NM_001289182.1|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr89Cys/c.266A>G|399|ZNF302|protein_coding|CODING|NM_001289183.1|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr90Cys/c.269A>G|400|ZNF302|protein_coding|CODING|NM_001289184.1|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr90Cys/c.269A>G|400|ZNF302|protein_coding|CODING|NM_001289185.1|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr89Cys/c.266A>G|399|ZNF302|protein_coding|CODING|NM_001289186.1|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr89Cys/c.266A>G|399|ZNF302|protein_coding|CODING|NM_001289187.1|5|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr89Cys/c.266A>G|399|ZNF302|protein_coding|CODING|NM_018443.3|5|1),3_prime_UTR_variant(MODIFIER||130|c.*130A>G|132|ZNF302|protein_coding|CODING|NM_001289188.1|5|1),3_prime_UTR_variant(MODIFIER||130|c.*130A>G|132|ZNF302|protein_coding|CODING|NM_001289189.1|5|1),3_prime_UTR_variant(MODIFIER||130|c.*130A>G|131|ZNF302|protein_coding|CODING|NM_001289190.1|5|1),3_prime_UTR_variant(MODIFIER||130|c.*130A>G|131|ZNF302|protein_coding|CODING|NM_001289191.1|5|1),3_prime_UTR_variant(MODIFIER||130|c.*130A>G|131|ZNF302|protein_coding|CODING|NM_001289192.1|5|1),3_prime_UTR_variant(MODIFIER||130|c.*130A>G|131|ZNF302|protein_coding|CODING|NM_018675.2|5|1),non_coding_exon_variant(MODIFIER|||n.347A>G||ZNF302||CODING|NR_110322.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2536,0.2075,0.3767,0.30,0.17,0.36,,,0.000(P),"3.59,3.59,6.05,3.59,3.58(T,T,T,T,T)",0.0000(T),0.153,1.288432,0.967,0.967,0.383000,0.686000,0.223000,0.054000,0.678000,0.989000,4.1694
missense_variant,ZNF302,MISSENSE,NM_001289181.1:p.Thr322Ile/c.965C>T,aCt/aTt,MODERATE,COSM4000657(2),0.250599,0.3006,rs11543232,1(T),"0.993,0.017(D,B)",0.22(N),-1.0142(T),,chr19,35175775,35175775,C,T,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr278Ile/c.833C>T|399|ZNF302|protein_coding|CODING|NM_001012320.2|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr322Ile/c.965C>T|443|ZNF302|protein_coding|CODING|NM_001289181.1|6|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr279Ile/c.836C>T|400|ZNF302|protein_coding|CODING|NM_001289182.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr278Ile/c.833C>T|399|ZNF302|protein_coding|CODING|NM_001289183.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr279Ile/c.836C>T|400|ZNF302|protein_coding|CODING|NM_001289184.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr279Ile/c.836C>T|400|ZNF302|protein_coding|CODING|NM_001289185.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr278Ile/c.833C>T|399|ZNF302|protein_coding|CODING|NM_001289186.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr278Ile/c.833C>T|399|ZNF302|protein_coding|CODING|NM_001289187.1|5|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr278Ile/c.833C>T|399|ZNF302|protein_coding|CODING|NM_018443.3|5|1),3_prime_UTR_variant(MODIFIER||697|c.*697C>T|132|ZNF302|protein_coding|CODING|NM_001289188.1|5|1),3_prime_UTR_variant(MODIFIER||697|c.*697C>T|132|ZNF302|protein_coding|CODING|NM_001289189.1|5|1),3_prime_UTR_variant(MODIFIER||697|c.*697C>T|131|ZNF302|protein_coding|CODING|NM_001289190.1|5|1),3_prime_UTR_variant(MODIFIER||697|c.*697C>T|131|ZNF302|protein_coding|CODING|NM_001289191.1|5|1),3_prime_UTR_variant(MODIFIER||697|c.*697C>T|131|ZNF302|protein_coding|CODING|NM_001289192.1|5|1),3_prime_UTR_variant(MODIFIER||697|c.*697C>T|131|ZNF302|protein_coding|CODING|NM_018675.2|5|1),non_coding_exon_variant(MODIFIER|||n.914C>T||ZNF302||CODING|NR_110322.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2536,0.2075,0.3767,0.30,0.19,0.36,,,0.000(P),"2.66,2.66,2.66,2.14(T,T,T,T)",0.0000(T),0.059,-0.516644,0.967,0.967,0.467000,0.822000,0.177000,0.974000,0.998000,0.096000,3.2227
missense_variant,ZNF30,MISSENSE,NM_001099437.1:p.Ser24Phe/c.71C>T,tCc/tTc,MODERATE,COSM1392764(1),0.288139,0.2202,rs10422961,0.01(D),"0.351,0.021(B,B)",4.305(H),-1.0444(T),,chr19,35422808,35422808,C,T,hom,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser24Phe/c.71C>T|624|ZNF30|protein_coding|CODING|NM_001099437.1|3|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser24Phe/c.71C>T|624|ZNF30|protein_coding|CODING|NM_001099438.1|3|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser24Phe/c.71C>T|623|ZNF30|protein_coding|CODING|NM_194325.2|3|1),non_coding_exon_variant(MODIFIER|||n.449C>T||ZNF30||CODING|NR_024018.1|3|1)","HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3476,0.232,0.3618,0.30,0.25,0.32,,,0.000(P),"4.1,4.1(T,T)",0.0000(T),0.195,1.637390,1.55,1.55,0.514000,1.167000,1.149000,0.971000,0.991000,0.676000,6.5714
missense_variant,ZNF30,MISSENSE,NM_001099437.1:p.Gln124Arg/c.371A>G,cAg/cGg,MODERATE,COSM3932997(1),0.586062,0.6032,rs1811,0.15(T),"0.014,0.003(B,B)",0(N),-1.0001(T),,chr19,35434238,35434238,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln124Arg/c.371A>G|624|ZNF30|protein_coding|CODING|NM_001099437.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln124Arg/c.371A>G|624|ZNF30|protein_coding|CODING|NM_001099438.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln123Arg/c.368A>G|623|ZNF30|protein_coding|CODING|NM_194325.2|5|1),non_coding_exon_variant(MODIFIER|||n.826A>G||ZNF30||CODING|NR_024018.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6401,0.3761,0.5119,0.53,0.66,0.47,,,1.000(P),"1.64,1.64(T,T)",0.0000(T),0.148,0.266597,1.91,-0.504,-2.522000,-0.594000,-3.046000,0.005000,0.103000,0.000000,6.151
missense_variant,ZNF30,MISSENSE,NM_001099437.1:p.Lys194Arg/c.581A>G,aAg/aGg,MODERATE,,0.0852636,0.0635,rs62122088,0.69(T),"0.009,0.007(B,B)",-0.215(N),-0.9314(T),,chr19,35434448,35434448,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys194Arg/c.581A>G|624|ZNF30|protein_coding|CODING|NM_001099437.1|5|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys194Arg/c.581A>G|624|ZNF30|protein_coding|CODING|NM_001099438.1|5|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys193Arg/c.578A>G|623|ZNF30|protein_coding|CODING|NM_194325.2|5|1),non_coding_exon_variant(MODIFIER|||n.1036A>G||ZNF30||CODING|NR_024018.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0982,0.0403,0.1551,0.13,0.08,0.15,,,1.000(P),"2.57,2.57(T,T)",0.0000(T),0.178,-1.464275,2.4,-0.0256,-0.487000,-0.220000,-2.896000,0.001000,0.000000,0.000000,2.7105
synonymous_variant,ZNF30,SILENT,NM_001099437.1:p.Ser215Ser/c.645T>C,agT/agC,LOW,,0.653355,0.6052,rs2651109,,,,,,chr19,35434512,35434512,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser215Ser/c.645T>C|624|ZNF30|protein_coding|CODING|NM_001099437.1|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser215Ser/c.645T>C|624|ZNF30|protein_coding|CODING|NM_001099438.1|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser214Ser/c.642T>C|623|ZNF30|protein_coding|CODING|NM_194325.2|5|1),non_coding_exon_variant(MODIFIER|||n.1100T>C||ZNF30||CODING|NR_024018.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.636,0.4049,0.5129,0.60,0.86,0.48,,,,,,,,,,,,,,,,
missense_variant,ZNF30,MISSENSE,NM_001099437.1:p.Arg380Lys/c.1139G>A,aGa/aAa,MODERATE,,0.652356,0.6002,rs1345658,1(T),"0.0,0.0(B,B)",-1.205(N),-1.0200(T),,chr19,35435006,35435006,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg380Lys/c.1139G>A|624|ZNF30|protein_coding|CODING|NM_001099437.1|5|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg380Lys/c.1139G>A|624|ZNF30|protein_coding|CODING|NM_001099438.1|5|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg379Lys/c.1136G>A|623|ZNF30|protein_coding|CODING|NM_194325.2|5|1),non_coding_exon_variant(MODIFIER|||n.1594G>A||ZNF30||CODING|NR_024018.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.636,0.4049,0.5129,0.60,0.85,0.47,,,1.000(P),"2.89,2.89(T,T)",0.0000(T),0.055,-0.793153,2.07,2.07,-0.773000,0.080000,2.619000,0.001000,0.005000,0.966000,5.3836
synonymous_variant,ZNF792,SILENT,NM_175872.4:p.His450His/c.1350C>T,caC/caT,LOW,COSM148589(2),0.327276,0.2034,rs2651081,,,,,,chr19,35449409,35449409,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His450His/c.1350C>T|632|ZNF792|protein_coding|CODING|NM_175872.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:SETDB1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3415,0.1859,0.329,0.35,0.44,0.30,,,,,,,,,,,,,,,,
synonymous_variant,ZNF792,SILENT,NM_175872.4:p.Thr333Thr/c.999C>G,acC/acG,LOW,COSM4131644(1),0.322484,0.2034,rs2651080,,,,,,chr19,35449760,35449760,G,C,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr333Thr/c.999C>G|632|ZNF792|protein_coding|CODING|NM_175872.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.1844,0.33,0.34,0.42,0.30,,,,,,,,,,,,,,,,
missense_variant,ZNF792,MISSENSE,NM_175872.4:p.Arg177Gln/c.530G>A,cGg/cAg,MODERATE,,0.626198,0.5942,rs2651079,1(T),0.0(B),-0.87(N),-1.0175(T),,chr19,35450229,35450229,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg177Gln/c.530G>A|632|ZNF792|protein_coding|CODING|NM_175872.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5481,0.3991,0.5149,0.59,0.83,0.47,,,1.000(P),3.54(T),0.0000(T),0.059,-1.134845,3.16,-0.202,-0.516000,-0.420000,-0.565000,0.024000,0.003000,0.000000,2.9579
missense_variant,FXYD3,MISSENSE,NM_001136009.1:p.Pro36Arg/c.107C>G,cCg/cGg,MODERATE,COSM4000664(1),0.236821,0.2798,rs2290649,,0.0(B),,-0.9797(T),,chr19,35612159,35612159,C,G,het,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro36Arg/c.107C>G|61|FXYD3|protein_coding|CODING|NM_001136009.1|6|1),missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro36Arg/c.107C>G|61|FXYD3|protein_coding|CODING|NM_001136010.1|5|1),upstream_gene_variant(MODIFIER||1445|||MIR6887||NON_CODING|NR_106947.1||1),intron_variant(MODIFIER|||c.268+10C>G|144|FXYD3|protein_coding|CODING|NM_001136007.1|7|1),intron_variant(MODIFIER|||c.97+10C>G|96|FXYD3|protein_coding|CODING|NM_001136008.1|5|1),intron_variant(MODIFIER|||c.97+10C>G|87|FXYD3|protein_coding|CODING|NM_001136011.1|6|1),intron_variant(MODIFIER|||c.97+10C>G|113|FXYD3|protein_coding|CODING|NM_001136012.1|5|1),intron_variant(MODIFIER|||c.97+10C>G|87|FXYD3|protein_coding|CODING|NM_005971.3|5|1),intron_variant(MODIFIER|||c.97+10C>G|113|FXYD3|protein_coding|CODING|NM_021910.2|6|1)","NHEK:H3K27ac,HeLa-S3:DNase1,HUVEC:H3K27me3,HMEC:H3K36me3,HMEC:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3",,,,0.1319,0.415,0.2455,0.23,0.20,0.25,,,1.000(P),,0.0000(T),0.004,-0.458439,4.16,-8.32,-1.729000,-2.597000,-1.795000,0.024000,0.000000,0.000000,4.2527
missense_variant,FXYD5,MISSENSE,NM_001164605.1:p.Ser35Ala/c.103T>G,Tca/Gca,MODERATE,COSM4131659(1),0.41234,0.7976,rs1688005,0.44(T),"0.001,0.001(B,B)",0(N),-0.9585(T),,chr19,35648365,35648365,T,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser35Ala/c.103T>G|178|FXYD5|protein_coding|CODING|NM_001164605.1|3|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser35Ala/c.103T>G|178|FXYD5|protein_coding|CODING|NM_014164.5|3|1),missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser35Ala/c.103T>G|178|FXYD5|protein_coding|CODING|NM_144779.2|3|1),non_coding_exon_variant(MODIFIER|||n.885T>G||FXYD5||CODING|NR_028406.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3241,0.3487,0.2565,0.28,0.33,0.25,,0.007109(N),1.000(P),"-0.16,0.78,0.86,0.86,0.86,0.86(T,T,T,T,T,T)",0.0000(T),0.018,-0.918670,3.08,-4.58,-0.783000,-0.698000,-2.286000,0.007000,0.000000,0.000000,0.6587
missense_variant,FXYD5,MISSENSE,NM_001164605.1:p.Arg176His/c.527G>A,cGt/cAt,MODERATE,,0.874002,0.7927,rs12110,0.5(T),"0.0,0.001(B,B)",1.5(L),-0.9490(T),,chr19,35660508,35660508,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg176His/c.527G>A|178|FXYD5|protein_coding|CODING|NM_001164605.1|9|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg176His/c.527G>A|178|FXYD5|protein_coding|CODING|NM_014164.5|9|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg176His/c.527G>A|178|FXYD5|protein_coding|CODING|NM_144779.2|9|1),non_coding_exon_variant(MODIFIER|||n.1309G>A||FXYD5||CODING|NR_028406.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.9059,0.889,0.7823,0.83,0.95,0.78,,0.006558(N),1.000(P),"0.71,0.71,0.71,0.71,0.33(T,T,T,T,T)",0.0000(T),0.056,0.474130,4.01,-3.28,-1.204000,-1.087000,-1.804000,0.032000,0.000000,0.000000,7.9442
missense_variant,FAM187B,MISSENSE,NM_152481.1:p.Val216Ile/c.646G>A,Gtc/Atc,MODERATE,COSM1392802(2),0.172324,0.0188,rs564117,0.92(T),0.02(B),-0.145(N),-1.0223(T),,chr19,35718938,35718938,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val216Ile/c.646G>A|369|FAM187B|protein_coding|CODING|NM_152481.1|1|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1933,0.1354,0.2008,0.22,0.26,0.20,,0.479938(N),1.000(P),1.93(T),0.0000(T),0.025,0.492149,5.01,-10.0,-0.150000,-1.365000,-2.444000,0.001000,0.000000,0.000000,4.7828
stop_gained,FAM187B,NONSENSE,NM_152481.1:p.Trp188*/c.564G>A,tgG/tgA,HIGH,COSM3756651(2),0.318291,0.1746,rs541169,0.26(T),,,,FAM187B:1.00(1);FAM187B:1.00(1);,chr19,35719020,35719020,C,T,hom,stop_gained(HIGH|NONSENSE|tgG/tgA|p.Trp188*/c.564G>A|369|FAM187B|protein_coding|CODING|NM_152481.1|1|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4489,0.3487,0.3221,0.33,0.32,0.33,,0.942959(N),0.000(P),,,.,3.338827,4.65,1.22,0.655000,0.236000,0.391000,0.025000,0.000000,0.000000,3.618
missense_variant,FAM187B,MISSENSE,NM_152481.1:p.Cys160Arg/c.478T>C,Tgt/Cgt,MODERATE,,0.499601,0.1915,rs565791,1(T),0.0(B),-2.045(N),-0.9704(T),,chr19,35719106,35719106,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys160Arg/c.478T>C|369|FAM187B|protein_coding|CODING|NM_152481.1|1|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6125,0.611,0.7177,0.64,0.46,0.73,,0.000188(N),0.215(P),2.41(T),0.0000(T),0.078,-1.466188,5.07,5.07,-0.119000,1.280000,2.272000,0.013000,0.947000,0.991000,10.0646
synonymous_variant,FAM187B,SILENT,NM_152481.1:p.Asp109Asp/c.327C>T,gaC/gaT,LOW,COSM1392803(1),0.284145,0.0357,rs11673347,,,,,,chr19,35719257,35719257,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp109Asp/c.327C>T|369|FAM187B|protein_coding|CODING|NM_152481.1|1|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3599,0.3732,0.5944,0.46,0.20,0.60,,,,,,,,,,,,,,,,
synonymous_variant,LSR,SILENT,NM_205834.3:p.Val164Val/c.492T>C,gtT/gtC,LOW,,0.563898,0.4683,rs2073900,,,,,,chr19,35741456,35741456,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val164Val/c.492T>C|629|LSR|protein_coding|CODING|NM_001260489.1|2|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val164Val/c.492T>C|541|LSR|protein_coding|CODING|NM_001260490.1|2|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val164Val/c.492T>C|630|LSR|protein_coding|CODING|NM_015925.6|2|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val164Val/c.492T>C|649|LSR|protein_coding|CODING|NM_205834.3|2|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val164Val/c.492T>C|581|LSR|protein_coding|CODING|NM_205835.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NH-A:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.6278,0.6844,0.7445,0.65,0.45,0.74,,,,,,,,,,,,,,,,
missense_variant,LSR,MISSENSE,NM_205834.3:p.Ser363Asn/c.1088G>A,aGt/aAt,MODERATE,COSM148590(3),0.154353,0.1637,rs34259399,0.16(T),"0.001,0.0,0.001,0.002,0.0,0.0(B,B,B,B,B,B)",-0.69(N),-1.0702(T),,chr19,35757427,35757427,G,A,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser344Asn/c.1031G>A|629|LSR|protein_coding|CODING|NM_001260489.1|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser255Asn/c.764G>A|541|LSR|protein_coding|CODING|NM_001260490.1|3|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser344Asn/c.1031G>A|630|LSR|protein_coding|CODING|NM_015925.6|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser363Asn/c.1088G>A|649|LSR|protein_coding|CODING|NM_205834.3|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser295Asn/c.884G>A|581|LSR|protein_coding|CODING|NM_205835.3|4|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2464,0.2118,0.1203,0.11,0.08,0.13,,0.418920(N),1.000(P),"0.5,0.62,0.27,0.36,-0.09(T,T,T,T,T)",0.0001(T),0.013,0.036900,3.75,-0.0226,0.462000,-0.306000,1.538000,0.347000,0.507000,0.603000,3.3124
synonymous_variant,MAG,SILENT,NM_002361.3:p.Thr403Thr/c.1209C>T,acC/acT,LOW,COSM3756652(1),0.236222,0.1677,rs1126770,,,,,,chr19,35793589,35793589,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr378Thr/c.1134C>T|601|MAG|protein_coding|CODING|NM_001199216.1|7|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr403Thr/c.1209C>T|626|MAG|protein_coding|CODING|NM_002361.3|7|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr403Thr/c.1209C>T|582|MAG|protein_coding|CODING|NM_080600.2|7|1)","NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2413,0.3271,0.3191,0.28,0.20,0.32,,,,,,,,,,,,,,,,
missense_variant,CD22,MISSENSE,NM_001771.3:p.Gly745Asp/c.2234G>A,gGc/gAc,MODERATE,,0.1248,0.2153,rs10406069,0.09(T),"0.07,0.016,0.01,0.039(B,B,B,B)",0.69(N),-1.0588(T),,chr19,35836530,35836530,G,A,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly657Asp/c.1970G>A|759|CD22|protein_coding|CODING|NM_001185099.1|11|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly568Asp/c.1703G>A|670|CD22|protein_coding|CODING|NM_001185101.1|10|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly573Asp/c.1718G>A|675|CD22|protein_coding|CODING|NM_001278417.1|11|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly745Asp/c.2234G>A|847|CD22|protein_coding|CODING|NM_001771.3|12|1),intron_variant(MODIFIER|||c.2208+501G>A|751|CD22|protein_coding|CODING|NM_001185100.1|11|1),non_coding_exon_variant(MODIFIER|||n.115G>A||MIR5196||NON_CODING|NR_049828.1|1|1)","GM12878:H3K27ac,GM12878:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:H3K27me3,IMR90:H3K27me3,GM12878:H3K4me1,GM06990:H3K36me3",,,,0.0644,0.1311,0.1849,0.16,0.07,0.21,,0.661060(N),1.000(P),"0.97,0.55,0.46,1.08(T,T,T,T)",0.0001(T),0.096,1.510191,4.68,-1.39,0.462000,0.100000,-0.119000,0.087000,0.011000,0.002000,4.9823
missense_variant,FFAR1,MISSENSE,NM_005303.2:p.Arg211His/c.632G>A,cGc/cAc,MODERATE,COSM3756654(3),0.879593,0.8056,rs2301151,0.17(T),0.001(B),0.255(N),-1.0300(T),,chr19,35843086,35843086,G,A,hom,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg211His/c.632G>A|300|FFAR1|protein_coding|CODING|NM_005303.2|1|1),"NHEK:H3K27me3,IMR90:H3K27me3,GM06990:DNase1",,,,0.9213,0.8746,0.7714,0.84,0.95,0.78,,0.462804(N),1.000(P),0.94(T),0.0000(T),0.104,-0.186384,4.1,-4.61,-1.327000,-1.498000,0.285000,0.215000,0.443000,0.004000,9.798
missense_variant,FFAR3,MISSENSE,NM_005304.3:p.Gln7His/c.21G>C,caG/caC,MODERATE,,,,rs146397125,0.55(T),0.0(B),0(N),-1.1139(T),,chr19,35849813,35849813,G,C,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln7His/c.21G>C|346|FFAR3|protein_coding|CODING|NM_005304.3|2|1),"K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,,,,,,,,0.070756(N),1.000(P),-0.14(T),0.0031(T),0.051,0.588585,3.92,-2.69,0.455000,-0.279000,-0.788000,0.002000,0.000000,0.000000,0.7816
missense_variant,FFAR3,MISSENSE,NM_005304.3:p.Arg45His/c.134G>A,cGc/cAc,MODERATE,COSM148592(2),,,rs62109581,0.12(T),0.091(B),0(N),-1.0029(T),,chr19,35849926,35849926,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg45His/c.134G>A|346|FFAR3|protein_coding|CODING|NM_005304.3|2|1),"K562:CTCF,GM12878:H3K36me3,H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:Rad21,H1ESC:CTCF",,,,,,,0.20,0.14,0.23,,0.004728(U),1.000(P),1.08(T),0.0000(T),0.066,1.750715,4.99,0.408,0.455000,0.033000,-0.177000,0.840000,0.608000,0.000000,4.4639
synonymous_variant,FFAR2,SILENT,NM_005306.2:p.Arg35Arg/c.105G>C,cgG/cgC,LOW,,0.0291534,0.002,rs117215242,,,,,,chr19,35940721,35940721,G,C,het,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg35Arg/c.105G>C|330|FFAR2|protein_coding|CODING|NM_005306.2|1|1),"GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0337,0.062,0.0626,0.05,0.01,0.07,,,,,,,,,,,,,,,,
missense_variant,DMKN,MISSENSE,NM_033317.4:p.Asp427Ala/c.1280A>C,gAc/gCc,MODERATE,,0.998403,1,rs909072,1(T),"0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B,B,B,B)",-1.65(N),-0.9717(T),,chr19,35991442,35991442,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp41Ala/c.122A>C|90|DMKN|protein_coding|CODING|NM_001035516.3|2|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp416Ala/c.1247A>C|465|DMKN|protein_coding|CODING|NM_001126056.2|14|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp140Ala/c.419A>C|189|DMKN|protein_coding|CODING|NM_001126059.2|8|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp386Ala/c.1157A>C|449|DMKN|protein_coding|CODING|NM_001190347.1|12|1),missense_variant(MODERATE|MISSENSE|gAc/gCc|p.Asp427Ala/c.1280A>C|476|DMKN|protein_coding|CODING|NM_033317.4|12|1),non_coding_exon_variant(MODIFIER|||n.494A>C||DMKN||CODING|NR_033746.1|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9957,0.996,0.99,1.00,0.99,,0.021563(N),1.000(P),"2.32,2.32,2.32,2.32,2.32,2.32,2.32,2.32(T,T,T,T,T,T,T,T)",0.0000(T),0.498,-0.623346,4.11,4.11,-0.445000,1.085000,1.674000,0.085000,0.051000,0.007000,9.4447
synonymous_variant,DMKN,SILENT,NM_033317.4:p.Thr230Thr/c.690G>T,acG/acT,LOW,,0.327676,0.4345,rs4806162,,,,,,chr19,36002710,36002710,C,A,het,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr230Thr/c.690G>T|465|DMKN|protein_coding|CODING|NM_001126056.2|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr230Thr/c.690G>T|398|DMKN|protein_coding|CODING|NM_001126057.2|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr230Thr/c.690G>T|386|DMKN|protein_coding|CODING|NM_001126058.2|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr230Thr/c.690G>T|449|DMKN|protein_coding|CODING|NM_001190347.1|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr230Thr/c.690G>T|436|DMKN|protein_coding|CODING|NM_001190348.1|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr230Thr/c.690G>T|369|DMKN|protein_coding|CODING|NM_001190349.1|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr230Thr/c.690G>T|476|DMKN|protein_coding|CODING|NM_033317.4|4|1),upstream_gene_variant(MODIFIER||1319||189|DMKN|protein_coding|CODING|NM_001126059.2||1),upstream_gene_variant(MODIFIER||1298|||DMKN||CODING|NR_033746.1||1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3323,0.3343,0.1441,0.22,0.36,0.14,,,,,,,,,,,,,,,,
missense_variant,DMKN,MISSENSE,NM_033317.4:p.Val91Ala/c.272T>C,gTa/gCa,MODERATE,COSM3756663(2),0.859625,0.8671,rs4806163,0.58(T),"0.0,0.0,0.0,0.0,0.002,0.001,0.002(B,B,B,B,B,B,B)",-0.755(N),-1.0466(T),,chr19,36004106,36004106,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val91Ala/c.272T>C|465|DMKN|protein_coding|CODING|NM_001126056.2|1|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val91Ala/c.272T>C|398|DMKN|protein_coding|CODING|NM_001126057.2|1|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val91Ala/c.272T>C|386|DMKN|protein_coding|CODING|NM_001126058.2|1|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val91Ala/c.272T>C|449|DMKN|protein_coding|CODING|NM_001190347.1|1|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val91Ala/c.272T>C|436|DMKN|protein_coding|CODING|NM_001190348.1|1|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val91Ala/c.272T>C|369|DMKN|protein_coding|CODING|NM_001190349.1|1|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val91Ala/c.272T>C|476|DMKN|protein_coding|CODING|NM_033317.4|1|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8303,0.7378,0.7922,0.83,0.96,0.77,,,1.000(P),"2.62,2.4,2.4,2.14,2.16,2.13,2.15,2.11(T,T,T,T,T,T,T,T)",0.0000(T),0.2,0.149740,5.04,-2.29,-0.320000,-0.726000,-0.080000,0.005000,0.000000,0.000000,6.3601
missense_variant,DMKN,MISSENSE,NM_033317.4:p.Glu69Asp/c.207G>T,gaG/gaT,MODERATE,COSM3721505(1),0.316494,0.3542,rs12460932,0.16(T),"0.0,0.969,0.969,0.0,0.0,0.0,0.0(B,D,D,B,B,B,B)",-0.405(N),-1.0358(T),,chr19,36004171,36004171,C,A,het,"missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu69Asp/c.207G>T|465|DMKN|protein_coding|CODING|NM_001126056.2|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu69Asp/c.207G>T|398|DMKN|protein_coding|CODING|NM_001126057.2|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu69Asp/c.207G>T|386|DMKN|protein_coding|CODING|NM_001126058.2|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu69Asp/c.207G>T|449|DMKN|protein_coding|CODING|NM_001190347.1|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu69Asp/c.207G>T|436|DMKN|protein_coding|CODING|NM_001190348.1|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu69Asp/c.207G>T|369|DMKN|protein_coding|CODING|NM_001190349.1|1|1),missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu69Asp/c.207G>T|476|DMKN|protein_coding|CODING|NM_033317.4|1|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3303,0.3357,0.1431,0.23,0.39,0.15,,0.438056(N),1.000(P),"2.75,2.51,2.51,2.27,2.27,2.26,2.26,2.24(T,T,T,T,T,T,T,T)",0.0000(T),0.251,2.165566,2.87,-5.74,-0.555000,-0.832000,-0.678000,0.001000,0.000000,0.000000,8.0196
synonymous_variant,SBSN,SILENT,NM_001166034.1:p.Ser570Ser/c.1710G>A,tcG/tcA,LOW,,0.0998403,0.0248,rs17705633,,,,,,chr19,36015652,36015652,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser570Ser/c.1710G>A|590|SBSN|protein_coding|CODING|NM_001166034.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser149Ser/c.447G>A|169|SBSN|protein_coding|CODING|NM_001166035.1|3|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser227Ser/c.681G>A|247|SBSN|protein_coding|CODING|NM_198538.3|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Nrsf,HepG2:H3K27me3",,,,0.1442,0.0951,0.1581,0.15,0.10,0.17,,,,,,,,,,,,,,,,
missense_variant,SBSN,MISSENSE,NM_001166034.1:p.Ala419Gly/c.1256C>G,gCg/gGg,MODERATE,,0.416933,0.6567,rs10775583,0.99(T),0.416(B),1.245(L),-0.9699(T),,chr19,36017928,36017928,G,C,het,"missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala419Gly/c.1256C>G|590|SBSN|protein_coding|CODING|NM_001166034.1|1|1),intron_variant(MODIFIER|||c.375+881C>G|169|SBSN|protein_coding|CODING|NM_001166035.1|1|1),intron_variant(MODIFIER|||c.376-149C>G|247|SBSN|protein_coding|CODING|NM_198538.3|1|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4806,0.4683,0.3559,0.31,0.23,0.35,,,1.000(P),0.72(T),0.0000(T),0.059,-0.049935,4.17,-2.36,0.407000,-0.296000,-1.005000,0.048000,0.007000,0.000000,7.8143
synonymous_variant,ATP4A,SILENT,NM_000704.2:p.Ile503Ile/c.1509C>A,atC/atA,LOW,COSM3756670(3),0.280751,0.2659,rs2230181,,,,,,chr19,36048741,36048741,G,T,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile503Ile/c.1509C>A|1035|ATP4A|protein_coding|CODING|NM_000704.2|11|1),"K562:ZBTB7A,H1ESC:PolII,K562:Max,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,K562:Cmyc,K562:CTCFL,K562:E2F6,NHEK:H3K27me3,K562:Rad21,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:DNase1",,,,0.3446,0.2277,0.4105,0.29,0.18,0.35,,,,,,,,,,,,,,,,
missense_variant,ATP4A,MISSENSE,NM_000704.2:p.Val265Ala/c.794T>C,gTg/gCg,MODERATE,COSM3749496(5),0.771565,0.4653,rs2733743,1(T),0.0(B),-2.995(N),-0.9407(T),,chr19,36050969,36050969,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val265Ala/c.794T>C|1035|ATP4A|protein_coding|CODING|NM_000704.2|7|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7761,0.6225,0.8936,0.93,0.98,0.90,,0.000008(N),0.992(P),-2.56(D),0.0000(T),0.127,-0.942140,4.08,3.01,-0.224000,0.482000,7.772000,0.249000,0.008000,1.000000,7.5285
missense_variant,LIN37,MISSENSE,NM_019104.2:p.Val16Ala/c.47T>C,gTc/gCc,MODERATE,,1,1,rs170758,1(T),,,-0.9007(T),,chr19,36243089,36243089,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val16Ala/c.47T>C|246|LIN37|protein_coding|CODING|NM_019104.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.002647(N),0.000(P),1.72(T),0.0000(T),0.086,0.409688,5.41,5.41,-0.119000,1.529000,1.402000,0.967000,1.000000,0.998000,9.1664
splice_acceptor_variant,LIN37,protein_coding,NM_019104.2:c.192G>A,,HIGH,,1,1,rs231243,,,,,LIN37:1.00(1);,chr19,36243813,36243813,G,A,hom,"splice_acceptor_variant(HIGH|||c.192G>A|246|LIN37|protein_coding|CODING|NM_019104.2|5|1),downstream_gene_variant(MODIFIER||1654||160|HSPB6|protein_coding|CODING|NM_144617.2||1),intron_variant(MODIFIER|||c.192-2G>A|246|LIN37|protein_coding|CODING|NM_019104.2|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,0.000(P),,,.,2.242077,4.31,4.31,-0.688000,0.809000,5.413000,0.400000,0.994000,1.000000,7.9145
missense_variant,KIRREL2,MISSENSE,NM_199180.3:p.Lys591Glu/c.1771A>G,Aaa/Gaa,MODERATE,,1,1,rs382789,1(T),"0.001,0.0,0.0,0.001(B,B,B,B)",-1.5(N),-0.9881(T),,chr19,36355595,36355595,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys591Glu/c.1771A>G|633|KIRREL2|protein_coding|CODING|NM_032123.6|14|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys541Glu/c.1621A>G|583|KIRREL2|protein_coding|CODING|NM_199179.3|13|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys591Glu/c.1771A>G|708|KIRREL2|protein_coding|CODING|NM_199180.3|14|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,1,1,1,,,,,0.167662(N),1.000(P),"1.36,1.36,1.36(T,T,T)",0.0000(T),0.098,-1.772449,4.48,2.25,-0.642000,0.031000,1.004000,0.173000,0.194000,0.990000,5.7669
missense_variant,SDHAF1,MISSENSE,NM_001042631.2:p.Cys90Ser/c.269G>C,tGc/tCc,MODERATE,,1,1,rs7249826,1(T),0.0(B),0(N),-0.9657(T),,chr19,36486445,36486445,G,C,hom,missense_variant(MODERATE|MISSENSE|tGc/tCc|p.Cys90Ser/c.269G>C|115|SDHAF1|protein_coding|CODING|NM_001042631.2|1|1),"NHEK:H3K9ac,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,CD4:H3K27ac,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,K562:THAP1,K562:Cmyc,CD4:H2BK5me1,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:Ap2alpha,HepG2:HNF4A,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.882877(N),1.000(P),,0.0000(T),0.059,0.450712,5.05,-0.338,-1.168000,-0.137000,0.207000,0.000000,0.000000,0.000000,2.7686
missense_variant,SYNE4,MISSENSE,NM_001039876.1:p.Gln278His/c.834G>C,caG/caC,MODERATE,COSM4131721(1),0.91274,0.8115,rs2285422,1(T),"0.0,0.0(B,B)",-1.04(N),-0.9984(T),,chr19,36497358,36497358,C,G,hom,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln278His/c.834G>C|404|SYNE4|protein_coding|CODING|NM_001039876.1|5|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln165His/c.495G>C|291|SYNE4|protein_coding|CODING|NM_001297735.1|3|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8395,0.951,0.9483,0.96,0.99,0.95,,0.441532(N),1.000(P),"1.52,1.52(T,T)",0.0000(T),0.059,-1.924664,4.97,-1.04,-0.120000,-0.177000,0.107000,0.456000,0.030000,0.047000,4.6974
missense_variant,THAP8,MISSENSE,NM_152658.2:p.Arg189Trp/c.565C>T,Cgg/Tgg,MODERATE,COSM3749499(6),0.258387,0.3274,rs10420353,0.25(T),0.003(B),0.46(N),-1.0918(T),,chr19,36530332,36530332,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg189Trp/c.565C>T|274|THAP8|protein_coding|CODING|NM_152658.2|3|1),intron_variant(MODIFIER|||c.200-6279G>A|135|LOC101927572|protein_coding|CODING|NM_001290056.1|3|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1851,0.2233,0.33,0.27,0.21,0.29,,0.331258(U),0.784(P),"-2.53,1.67(D,T)",0.0000(T),0.122,2.089001,4.54,2.33,0.552000,0.423000,1.634000,0.003000,0.189000,0.988000,5.2732
missense_variant,THAP8,MISSENSE,NM_152658.2:p.Arg185Gln/c.554G>A,cGg/cAg,MODERATE,COSM3749500(4),0.258387,0.3274,rs10421966,0.49(T),0.0(B),0.205(N),-1.1155(T),,chr19,36530343,36530343,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg185Gln/c.554G>A|274|THAP8|protein_coding|CODING|NM_152658.2|3|1),intron_variant(MODIFIER|||c.200-6268C>T|135|LOC101927572|protein_coding|CODING|NM_001290056.1|3|1)","GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1851,0.2233,0.33,0.27,0.21,0.30,,0.883987(N),1.000(P),"-2.37,1.87(D,T)",0.0000(T),0.026,1.471684,4.54,-5.09,-1.316000,-1.335000,-0.273000,0.039000,0.006000,0.492000,12.6285
synonymous_variant,WDR62,SILENT,NM_001083961.1:p.Leu62Leu/c.186C>T,ctC/ctT,LOW,COSM148599(1),0.125599,0.1716,rs11538454,,,,,,chr19,36549690,36549690,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu62Leu/c.186C>T|1523|WDR62|protein_coding|CODING|NM_001083961.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu62Leu/c.186C>T|1518|WDR62|protein_coding|CODING|NM_173636.4|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1544,0.1326,0.1958,0.15,0.04,0.21,,,,,,,,,,,,,,,,
missense_variant,WDR62,MISSENSE,NM_001083961.1:p.Leu850Ser/c.2549T>C,tTg/tCg,MODERATE,COSM4131728(1),0.654153,0.6101,rs2285745,0.79(T),"0.0,0.0(B,B)",-1.445(N),-0.9520(T),,chr19,36590329,36590329,T,C,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu850Ser/c.2549T>C|1523|WDR62|protein_coding|CODING|NM_001083961.1|22|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu850Ser/c.2549T>C|1518|WDR62|protein_coding|CODING|NM_173636.4|22|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5041,0.7061,0.675,0.67,0.72,0.65,,0.948134(N),1.000(P),"0.86,0.86(T,T)",0.0000(T),0.014,-0.893325,5.31,4.25,-0.119000,0.610000,0.702000,0.738000,0.034000,0.045000,7.5173
missense_variant,WDR62,MISSENSE,NM_001083961.1:p.Gln1310Leu/c.3929A>T,cAg/cTg,MODERATE,COSM3756682(2),0.729633,0.7956,rs2074435,0.39(T),"0.0,0.0(B,B)",-0.975(N),-0.9884(T),,chr19,36594659,36594659,A,T,het,"missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln1310Leu/c.3929A>T|1523|WDR62|protein_coding|CODING|NM_001083961.1|30|1),missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln1305Leu/c.3914A>T|1518|WDR62|protein_coding|CODING|NM_173636.4|30|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000079454.1,,0.6411,0.7392,0.6252,0.67,0.78,0.61,,0.581197(N),1.000(P),"1.25,1.17(T,T)",0.0000(T),0.032,0.708344,4.19,2.09,-0.376000,-0.055000,0.511000,0.010000,0.000000,0.000000,2.6565
missense_variant,WDR62,MISSENSE,NM_001083961.1:p.Leu1390Phe/c.4170A>C,ttA/ttC,MODERATE,COSM1129883(4),0.716254,0.752,rs1008328,0.7(T),"0.003,0.001(B,B)",0(N),-0.9539(T),,chr19,36595436,36595436,A,C,hom,"missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu1390Phe/c.4170A>C|1523|WDR62|protein_coding|CODING|NM_001083961.1|31|1),missense_variant(MODERATE|MISSENSE|ttA/ttC|p.Leu1385Phe/c.4155A>C|1518|WDR62|protein_coding|CODING|NM_173636.4|31|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1,K562:DNase1",,,,0.5808,0.781,0.7843,0.75,0.70,0.78,,0.000020(N),1.000(P),"0.92,0.83(T,T)",0.0000(T),0.015,0.356107,4.1,1.96,-0.143000,0.303000,0.322000,0.000000,0.000000,0.000000,2.8656
synonymous_variant,OVOL3,SILENT,NM_001270948.1:p.Pro91Pro/c.273T>A,ccT/ccA,LOW,COSM4131730(1),0.580272,0.5764,rs2072605,,,,,,chr19,36603703,36603703,T,A,het,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro91Pro/c.273T>A|214|OVOL3|protein_coding|CODING|NM_001270948.1|2|1),downstream_gene_variant(MODIFIER||908||125|POLR2I|protein_coding|CODING|NM_006233.4||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3926,0.6484,0.5755,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF565,MISSENSE,NM_001042474.2:p.Ile188Thr/c.563T>C,aTt/aCt,MODERATE,,0.630391,0.6002,rs4805162,0.22(T),0.018(B),-0.22(N),-1.1061(T),,chr19,36674305,36674305,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile188Thr/c.563T>C|499|ZNF565|protein_coding|CODING|NM_001042474.2|5|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile188Thr/c.563T>C|499|ZNF565|protein_coding|CODING|NM_152477.4|5|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4632,0.6398,0.5219,0.61,0.78,0.53,,0.096063(N),1.000(P),"3.73,3.73,3.73(T,T,T)",0.0000(T),0.018,1.027608,4.24,0.744,-0.220000,-0.075000,0.064000,0.875000,0.678000,0.000000,7.8911
missense_variant,ZNF146,MISSENSE,NM_001099638.1:p.Arg8Lys/c.23G>A,aGa/aAa,MODERATE,,0.386981,0.4683,rs2070132,0.07(T),0.003(B),0.945(L),-0.9025(T),,chr19,36727365,36727365,G,A,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg8Lys/c.23G>A|292|ZNF146|protein_coding|CODING|NM_001099638.1|3|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg8Lys/c.23G>A|292|ZNF146|protein_coding|CODING|NM_001099639.1|3|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg8Lys/c.23G>A|292|ZNF146|protein_coding|CODING|NM_007145.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4622,0.33,0.3807,0.38,0.34,0.40,,0.187536(N),0.000(P),"2.3,2.3(T,T)",0.0000(T),0.04,1.675475,4.46,-1.92,-0.806000,-0.180000,-0.758000,0.816000,0.294000,0.000000,9.9012
synonymous_variant,ZNF566,SILENT,NM_001145343.1:p.Arg127Arg/c.379C>A,Cgg/Agg,LOW,COSM3756685(2),0.496406,0.2669,rs2967532,,,,,,chr19,36940760,36940760,G,T,het,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg127Arg/c.379C>A|419|ZNF566|protein_coding|CODING|NM_001145343.1|5|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg126Arg/c.376C>A|418|ZNF566|protein_coding|CODING|NM_001145344.1|5|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg126Arg/c.376C>A|418|ZNF566|protein_coding|CODING|NM_001145345.1|5|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg22Arg/c.64C>A|314|ZNF566|protein_coding|CODING|NM_001300970.1|4|1),synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg126Arg/c.376C>A|418|ZNF566|protein_coding|CODING|NM_032838.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5716,0.3991,0.5885,0.60,0.61,0.59,,,,,,,,,,,,,,,,
synonymous_variant,ZNF260,SILENT,NM_001012756.2:p.Cys281Cys/c.843T>C,tgT/tgC,LOW,,0.0545128,0.003,rs76808668,,,,,,chr19,37005298,37005298,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys281Cys/c.843T>C|412|ZNF260|protein_coding|CODING|NM_001012756.2|4|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys281Cys/c.843T>C|412|ZNF260|protein_coding|CODING|NM_001166036.1|4|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys281Cys/c.843T>C|412|ZNF260|protein_coding|CODING|NM_001166037.1|3|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys281Cys/c.843T>C|412|ZNF260|protein_coding|CODING|NM_001166038.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0573,0.1297,0.1103,0.09,0.03,0.12,,,,,,,,,,,,,,,,
missense_variant,ZNF529,MISSENSE,NM_001145649.1:p.Leu131Val/c.391T>G,Tta/Gta,MODERATE,COSM4000689(1),0.651558,0.4226,rs2912444,0.39(T),,,-1.0125(T),,chr19,37039069,37039069,A,C,het,"missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu131Val/c.391T>G|563|ZNF529|protein_coding|CODING|NM_001145649.1|6|1),missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu113Val/c.337T>G|545|ZNF529|protein_coding|CODING|NM_001145650.1|5|1),missense_variant(MODERATE|MISSENSE|Tta/Gta|p.Leu131Val/c.391T>G|563|ZNF529|protein_coding|CODING|NM_020951.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6728,0.5735,0.6948,0.72,0.81,0.68,,,1.000(P),,0.0000(T),0.021,-0.335375,3.83,-7.66,-1.296000,-1.556000,-1.182000,0.003000,0.000000,0.000000,2.0601
missense_variant,ZNF382,MISSENSE,NM_032825.4:p.Glu168Gly/c.503A>G,gAg/gGg,MODERATE,COSM3756690(1),0.678914,0.8135,rs3108171,1(T),"0.117,0.117,0.055(B,B,B)",-1.37(N),-0.9838(T),,chr19,37117302,37117302,A,G,het,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu167Gly/c.500A>G|549|ZNF382|protein_coding|CODING|NM_001256838.1|5|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu168Gly/c.503A>G|550|ZNF382|protein_coding|CODING|NM_032825.4|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.5532,0.647,0.5994,0.65,0.72,0.62,,0.012781(N),0.783(P),"3.4,3.53,3.54,3.53(T,T,T,T)",0.0000(T),0.212,-1.124121,4.83,3.82,0.460000,2.163000,1.845000,0.657000,1.000000,0.759000,8.4978
synonymous_variant,ZNF567,SILENT,NM_001300979.1:p.Ala80Ala/c.240T>C,gcT/gcC,LOW,,0.0523163,0.003,rs34642314,,,,,,chr19,37209866,37209866,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala80Ala/c.240T>C|647|ZNF567|protein_coding|CODING|NM_001300979.1|6|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala49Ala/c.147T>C|616|ZNF567|protein_coding|CODING|NM_152603.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.1297,0.1083,0.09,0.03,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ZNF567,SILENT,NM_001300979.1:p.Tyr393Tyr/c.1179C>T,taC/taT,LOW,COSM3756694(1),0.697484,0.8194,rs3108201,,,,,,chr19,37210805,37210805,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr393Tyr/c.1179C>T|647|ZNF567|protein_coding|CODING|NM_001300979.1|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr362Tyr/c.1086C>T|616|ZNF567|protein_coding|CODING|NM_152603.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5757,0.6816,0.5994,0.66,0.74,0.62,,,,,,,,,,,,,,,,
synonymous_variant,ZNF850,SILENT,NM_001193552.1:p.His267His/c.801T>C,caT/caC,LOW,,0.766374,0.4206,rs1673082,,,,,,chr19,37241141,37241141,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His267His/c.801T>C|1090|ZNF850|protein_coding|CODING|NM_001193552.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His235His/c.705T>C|1058|ZNF850|protein_coding|CODING|NM_001267779.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7986,0.7291,0.8986,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF345,SILENT,NM_001242472.1:p.Leu385Leu/c.1155T>A,ctT/ctA,LOW,,0.019369,0,rs4806370,,,,,,chr19,37368887,37368887,T,A,het,"synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu385Leu/c.1155T>A|488|ZNF345|protein_coding|CODING|NM_001242472.1|3|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu385Leu/c.1155T>A|488|ZNF345|protein_coding|CODING|NM_001242474.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu385Leu/c.1155T>A|488|ZNF345|protein_coding|CODING|NM_001242475.1|3|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu385Leu/c.1155T>A|488|ZNF345|protein_coding|CODING|NM_001242476.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctA|p.Leu385Leu/c.1155T>A|488|ZNF345|protein_coding|CODING|NM_003419.4|3|1),intron_variant(MODIFIER|||n.159-14833T>A||ZNF345||CODING|NR_038362.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0061,0.0403,0.0606,0.04,0.01,0.06,,,,,,,,,,,,,,,,
synonymous_variant,ZNF568,SILENT,NM_198539.3:p.His352His/c.1056C>T,caC/caT,LOW,COSM4000694(1),0.586262,0.3571,rs386599500,,,,,,chr19,37441111,37441111,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His288His/c.864C>T|580|ZNF568|protein_coding|CODING|NM_001204836.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His288His/c.864C>T|580|ZNF568|protein_coding|CODING|NM_001204837.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His352His/c.1056C>T|644|ZNF568|protein_coding|CODING|NM_198539.3|7|1),synonymous_variant(LOW|SILENT|caC/caT|p.His351His/c.1053C>T|643|ZNF568|protein_coding|CODING|NM_001204835.1|7|1),intron_variant(MODIFIER|||c.358+12967C>T|635|ZNF568|protein_coding|CODING|NM_001204838.1|6|1),intron_variant(MODIFIER|||c.166+12967C>T|571|ZNF568|protein_coding|CODING|NM_001204839.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5838,0.6167,0.5656,0.63,0.74,0.57,,,,,,,,,,,,,,,,
missense_variant,ZNF568,MISSENSE,NM_198539.3:p.Met437Thr/c.1310T>C,aTg/aCg,MODERATE,COSM4131739(1),0.303315,0.0913,rs386598773,0.01(D),0.005(B),1.49(L),-0.9302(T),,chr19,37441365,37441365,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met373Thr/c.1118T>C|580|ZNF568|protein_coding|CODING|NM_001204836.1|6|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met373Thr/c.1118T>C|580|ZNF568|protein_coding|CODING|NM_001204837.1|5|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met437Thr/c.1310T>C|644|ZNF568|protein_coding|CODING|NM_198539.3|7|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met436Thr/c.1307T>C|643|ZNF568|protein_coding|CODING|NM_001204835.1|7|1),intron_variant(MODIFIER|||c.358+13221T>C|635|ZNF568|protein_coding|CODING|NM_001204838.1|6|1),intron_variant(MODIFIER|||c.166+13221T>C|571|ZNF568|protein_coding|CODING|NM_001204839.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.2945,0.3718,0.3618,0.38,0.41,0.36,,0.017136(N),1.000(P),"2.13,2.13(T,T)",0.0000(T),0.209,0.442011,4.09,0.406,0.460000,0.203000,-1.420000,0.791000,0.073000,0.000000,8.2689
synonymous_variant,ZNF568,SILENT,NM_198539.3:p.Thr469Thr/c.1407T>C,acT/acC,LOW,,0.565895,0.3105,rs546589,,,,,,chr19,37441462,37441462,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr405Thr/c.1215T>C|580|ZNF568|protein_coding|CODING|NM_001204836.1|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr405Thr/c.1215T>C|580|ZNF568|protein_coding|CODING|NM_001204837.1|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr469Thr/c.1407T>C|644|ZNF568|protein_coding|CODING|NM_198539.3|7|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr468Thr/c.1404T>C|643|ZNF568|protein_coding|CODING|NM_001204835.1|7|1),intron_variant(MODIFIER|||c.358+13318T>C|635|ZNF568|protein_coding|CODING|NM_001204838.1|6|1),intron_variant(MODIFIER|||c.166+13318T>C|571|ZNF568|protein_coding|CODING|NM_001204839.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5654,0.5692,0.5636,0.63,0.74,0.57,,,,,,,,,,,,,,,,
missense_variant,ZNF568,MISSENSE,NM_198539.3:p.Gln642Arg/c.1925A>G,cAa/cGa,MODERATE,,0.547923,0.3085,rs1644634,0.04(D),0.0(B),0.125(N),-0.9947(T),,chr19,37441980,37441980,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln578Arg/c.1733A>G|580|ZNF568|protein_coding|CODING|NM_001204836.1|6|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln578Arg/c.1733A>G|580|ZNF568|protein_coding|CODING|NM_001204837.1|5|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln642Arg/c.1925A>G|644|ZNF568|protein_coding|CODING|NM_198539.3|7|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln641Arg/c.1922A>G|643|ZNF568|protein_coding|CODING|NM_001204835.1|7|1),intron_variant(MODIFIER|||c.358+13836A>G|635|ZNF568|protein_coding|CODING|NM_001204838.1|6|1),intron_variant(MODIFIER|||c.166+13836A>G|571|ZNF568|protein_coding|CODING|NM_001204839.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5644,0.5634,0.5636,0.62,0.71,0.57,,,1.000(P),"3.57,3.48(T,T)",0.0000(T),0.026,-0.995235,4.13,-6.21,-1.861000,-1.765000,-0.872000,0.011000,0.000000,0.000000,5.9799
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Asp160Gly/c.479A>G,gAt/gGt,MODERATE,COSM439332(2),0.523962,0.251,rs1667354,0.06(T),"0.036,0.036(B,B)",1.54(L),-1.0460(T),,chr19,37482151,37482151,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp160Gly/c.479A>G|635|ZNF568|protein_coding|CODING|NM_001204838.1|8|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp96Gly/c.287A>G|571|ZNF568|protein_coding|CODING|NM_001204839.1|7|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5869,0.549,0.5229,,,,,,0.005(P),"4.61,4.61,4.61(T,T,T)",0.0000(T),0.356,1.488694,3.36,2.33,0.352000,0.646000,-0.356000,0.976000,0.625000,0.000000,1.0352
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Ala347Thr/c.1039G>A,Gcc/Acc,MODERATE,,0.496605,0.25,rs935706,0.06(T),"0.011,0.017(B,B)",1.525(L),-0.9863(T),,chr19,37487632,37487632,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala347Thr/c.1039G>A|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala283Thr/c.847G>A|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5685,0.5346,0.5109,,,,,,0.879(P),"3.29,2.44,2.44(T,T,T)",0.0000(T),0.155,2.401191,3.98,0.529,0.597000,0.096000,0.235000,0.522000,0.002000,0.001000,3.7518
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Arg377His/c.1130G>A,cGt/cAt,MODERATE,COSM439333(4),0.496805,0.251,rs386622077,0.09(T),"0.0,0.0(B,B)",1.21(L),-0.9363(T),,chr19,37487723,37487723,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg377His/c.1130G>A|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg313His/c.938G>A|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5685,0.5346,0.5109,,,,,,1.000(P),"1.25,3.13,2.24(T,T,T)",0.0000(T),0.151,2.340877,3.77,-3.09,-0.334000,-1.433000,-4.503000,0.899000,0.000000,0.000000,2.1577
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Ser425Cys/c.1273A>T,Agt/Tgt,MODERATE,COSM4000699(1),0.497005,0.25,rs1667363,1(T),"0.0,0.0(B,B)",-3.805(N),-0.9561(T),,chr19,37487866,37487866,A,T,hom,"missense_variant(MODERATE|MISSENSE|Agt/Tgt|p.Ser425Cys/c.1273A>T|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|Agt/Tgt|p.Ser361Cys/c.1081A>T|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5695,0.5346,0.5119,,,,,,0.000(P),"3.89,3.7,3.7(T,T,T)",0.0000(T),0.238,-0.082997,3.74,3.74,-0.329000,0.615000,4.576000,0.777000,0.931000,1.000000,7.9202
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Ala427Glu/c.1280C>A,gCg/gAg,MODERATE,COSM4000700(1),0.497005,0.25,rs1667364,1(T),"0.0,0.0(B,B)",-1.995(N),-0.9171(T),,chr19,37487873,37487873,C,A,hom,"missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala427Glu/c.1280C>A|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|gCg/gAg|p.Ala363Glu/c.1088C>A|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5685,0.5346,0.5119,,,,,,1.000(P),"1.24,1.24,1.24(T,T,T)",0.0000(T),0.137,-1.255646,3.74,3.74,-0.328000,0.615000,3.278000,0.800000,0.729000,0.686000,8.7373
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Arg461His/c.1382G>A,cGt/cAt,MODERATE,COSM439334(2),0.275759,0.0942,rs16971886,0.23(T),"0.615,0.615(P,P)",0.88(L),-0.9089(T),,chr19,37487975,37487975,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg461His/c.1382G>A|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg397His/c.1190G>A|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.2822,0.379,0.3608,,,,,,1.000(P),"3.13,3.13,3.13(T,T,T)",0.0000(T),0.217,2.827593,3.74,0.101,0.597000,0.027000,-4.985000,0.993000,0.000000,0.000000,2.1824
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Cys535Tyr/c.1604G>A,tGt/tAt,MODERATE,COSM3822848(2),0.496605,0.25,rs1345748,1(T),"0.0,0.0(B,B)",-2.3(N),-0.9449(T),,chr19,37488197,37488197,G,A,hom,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys535Tyr/c.1604G>A|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys471Tyr/c.1412G>A|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5685,0.5346,0.5109,,,,,,0.000(P),"2.72,2.72(T,T)",0.0000(T),0.092,-1.145078,3.79,3.79,-0.334000,0.628000,.,0.985000,0.949000,.,3.4574
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Glu569Gly/c.1706A>G,gAa/gGa,MODERATE,COSM4000701(1),0.496406,0.25,rs1363752,1(T),"0.0,0.0(B,B)",-1.145(N),-0.9639(T),,chr19,37488299,37488299,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu569Gly/c.1706A>G|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|gAa/gGa|p.Glu505Gly/c.1514A>G|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5675,0.5346,0.5109,,,,,,0.293(P),"2.93,3.17(T,T)",0.0000(T),0.111,-1.131469,3.8,-0.878,-0.171000,-0.432000,-0.155000,0.781000,0.000000,0.001000,8.6475
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Pro627Ala/c.1879C>G,Ccc/Gcc,MODERATE,,0.497005,0.251,rs1644698,,"0.0,0.0(B,B)",-1.505(N),-0.9468(T),,chr19,37488472,37488472,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro627Ala/c.1879C>G|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro563Ala/c.1687C>G|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5685,0.5346,0.5119,,,,,,1.000(P),2.44(T),0.0000(T),0.039,-1.855537,3.8,-3.9,-0.173000,-0.757000,-4.299000,0.658000,0.004000,0.000000,1.4137
missense_variant,ZNF568,MISSENSE,NM_001204838.1:p.Gly630Arg/c.1888G>C,Ggt/Cgt,MODERATE,,0.552716,0.2986,rs1363753,,"0.0,0.0(B,B)",-2.39(N),-1.0157(T),,chr19,37488481,37488481,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly630Arg/c.1888G>C|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly566Arg/c.1696G>C|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5879,0.598,0.5239,,,,,,1.000(P),3.47(T),0.0000(T),0.056,-0.705219,3.8,1.64,-0.173000,0.082000,-5.078000,0.771000,0.022000,0.000000,1.1754
stop_lost,ZNF568,MISSENSE,NM_001204838.1:p.Ter636Argext*?/c.1906T>C,Tga/Cga,HIGH,,0.496805,0.25,rs1667366,,,,,,chr19,37488499,37488499,T,C,hom,"stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter636Argext*?/c.1906T>C|635|ZNF568|protein_coding|CODING|NM_001204838.1|10|1),stop_lost(HIGH|MISSENSE|Tga/Cga|p.Ter572Argext*?/c.1714T>C|571|ZNF568|protein_coding|CODING|NM_001204839.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5685,0.5346,0.5119,,,,,,1.000(P),,,.,1.748479,3.8,2.66,-0.171000,0.957000,-1.955000,0.925000,0.084000,0.000000,7.1572
synonymous_variant,ZNF585A,SILENT,NM_001288800.1:p.His628His/c.1884C>T,caC/caT,LOW,COSM3822858(3),0.502995,0.1944,rs77675231,,,,,,chr19,37642917,37642917,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His628His/c.1884C>T|769|ZNF585A|protein_coding|CODING|NM_001288800.1|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His573His/c.1719C>T|714|ZNF585A|protein_coding|CODING|NM_152655.3|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His573His/c.1719C>T|714|ZNF585A|protein_coding|CODING|NM_199126.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3609,0.5778,0.497,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF585A,MISSENSE,NM_001288800.1:p.Val627Ile/c.1879G>A,Gtt/Att,MODERATE,COSM4131741(2),0.502196,0.1944,rs79071992,1(T),0.001(B),,-0.9733(T),,chr19,37642922,37642922,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val627Ile/c.1879G>A|769|ZNF585A|protein_coding|CODING|NM_001288800.1|5|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val572Ile/c.1714G>A|714|ZNF585A|protein_coding|CODING|NM_152655.3|6|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val572Ile/c.1714G>A|714|ZNF585A|protein_coding|CODING|NM_199126.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3609,0.5764,0.497,0.59,0.76,0.51,,0.033448(N),0.460(P),"2.17,2.17,2.17(T,T,T)",0.0000(T),0.018,-1.831847,3.21,-0.23,-2.387000,-0.670000,-0.917000,0.799000,0.017000,0.000000,1.988
synonymous_variant,ZNF585A,SILENT,NM_001288800.1:p.Ala250Ala/c.750A>G,gcA/gcG,LOW,,0.339856,0.0933,rs57916401,,,,,,chr19,37644051,37644051,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala250Ala/c.750A>G|769|ZNF585A|protein_coding|CODING|NM_001288800.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala195Ala/c.585A>G|714|ZNF585A|protein_coding|CODING|NM_152655.3|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala195Ala/c.585A>G|714|ZNF585A|protein_coding|CODING|NM_199126.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2474,0.4078,0.3628,0.42,0.53,0.36,,,,,,,,,,,,,,,,
synonymous_variant,ZNF585B,SILENT,NM_152279.3:p.Ala637Ala/c.1911C>T,gcC/gcT,LOW,COSM4131744(1),0.277556,0.0883,rs75662394,,,,,,chr19,37676528,37676528,G,A,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala637Ala/c.1911C>T|769|ZNF585B|protein_coding|CODING|NM_152279.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.2434,0.3862,0.3579,0.36,0.36,0.36,,,,,,,,,,,,,,,,
missense_variant,ZNF585B,MISSENSE,NM_152279.3:p.Ile231Leu/c.691A>T,Ata/Tta,MODERATE,,0.277157,0.0883,rs45626541,0.32(T),"0.018,0.041(B,B)",0(N),-0.8899(T),,chr19,37677748,37677748,T,A,hom,missense_variant(MODERATE|MISSENSE|Ata/Tta|p.Ile231Leu/c.691A>T|769|ZNF585B|protein_coding|CODING|NM_152279.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2434,0.3876,0.3579,0.36,0.36,0.36,,0.033472(N),1.000(P),"2.25,2.25(T,T)",0.0000(T),0.148,0.493463,2.78,0.175,0.374000,0.265000,-2.382000,0.926000,0.037000,0.000000,8.6099
missense_variant,HKR1,MISSENSE,NM_181786.2:p.Ser513Ile/c.1538G>T,aGc/aTc,MODERATE,COSM3756712(5),0.347244,0.2986,rs3745765,1(T),"0.002,0.002,0.004,0.0(B,B,B,B)",-0.445(N),-0.9203(T),,chr19,37854235,37854235,G,T,het,missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser513Ile/c.1538G>T|659|HKR1|protein_coding|CODING|NM_181786.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3937,0.2695,0.159,0.28,0.48,0.17,,,1.000(P),"2.38,2.1,2.1,2.1(T,T,T,T)",0.0000(T),0.048,-2.050625,2.58,1.52,-1.198000,0.004000,-1.475000,0.782000,0.625000,0.000000,4.178
missense_variant,ZNF527,MISSENSE,NM_032453.1:p.His213Arg/c.638A>G,cAt/cGt,MODERATE,COSM3756714(2),0.345647,0.3006,rs4452075,0.01(D),"0.007,0.016(B,B)",1.905(M),-0.9409(T),,chr19,37879589,37879589,A,G,het,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His213Arg/c.638A>G|609|ZNF527|protein_coding|CODING|NM_032453.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3916,0.2666,0.1581,0.26,0.47,0.17,,0.678369(N),1.000(P),,0.0000(T),0.103,1.510539,4.15,-0.451,-1.412000,-0.407000,1.296000,0.304000,0.001000,0.000000,6.3759
missense_variant,ZNF571,MISSENSE,NM_001290314.1:p.Leu573His/c.1718T>A,cTt/cAt,MODERATE,COSM3756715(1),0.368211,0.6528,rs4802029,0.01(D),1.0(D),4.02(H),-0.8881(T),,chr19,38055612,38055612,A,T,het,"missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu573His/c.1718T>A|609|ZNF571|protein_coding|CODING|NM_001290314.1|5|1),missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu573His/c.1718T>A|609|ZNF571|protein_coding|CODING|NM_016536.4|4|1),intron_variant(MODIFIER|||n.208-1321A>T||ZNF571-AS1||NON_CODING|NR_038247.1|1|1),intron_variant(MODIFIER|||n.338-1321A>T||ZNF571-AS1||NON_CODING|NR_038248.1|2|1),intron_variant(MODIFIER|||n.296-1321A>T||ZNF571-AS1||NON_CODING|NR_038249.1|1|1),intron_variant(MODIFIER|||n.296-5140A>T||ZNF571-AS1||NON_CODING|NR_038250.1|1|1),intron_variant(MODIFIER|||c.-73+13045A>T|660|ZNF540|protein_coding|CODING|NM_152606.4|1|1)","H1ESC:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,K562:ZNF274,CD4:H4K20me3",,,,0.3722,0.2637,0.168,0.23,0.32,0.19,,,0.000(P),"0.59,0.59,0.59(T,T,T)",0.0000(T),0.468,3.363795,3.78,3.78,0.377000,1.556000,4.732000,0.904000,0.044000,0.708000,11.5963
missense_variant,ZNF571,MISSENSE,NM_001290314.1:p.Glu252Asp/c.756A>T,gaA/gaT,MODERATE,COSM3756716(1),0.368211,0.6528,rs28512414,0.07(T),0.031(B),1.685(L),-0.9768(T),,chr19,38056574,38056574,T,A,het,"missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu252Asp/c.756A>T|609|ZNF571|protein_coding|CODING|NM_001290314.1|5|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu252Asp/c.756A>T|609|ZNF571|protein_coding|CODING|NM_016536.4|4|1),intron_variant(MODIFIER|||n.208-359T>A||ZNF571-AS1||NON_CODING|NR_038247.1|1|1),intron_variant(MODIFIER|||n.338-359T>A||ZNF571-AS1||NON_CODING|NR_038248.1|2|1),intron_variant(MODIFIER|||n.296-359T>A||ZNF571-AS1||NON_CODING|NR_038249.1|1|1),intron_variant(MODIFIER|||n.296-4178T>A||ZNF571-AS1||NON_CODING|NR_038250.1|1|1),intron_variant(MODIFIER|||c.-73+14007T>A|660|ZNF540|protein_coding|CODING|NM_152606.4|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,0.3722,0.2637,0.168,0.23,0.32,0.19,,,0.000(P),"1.97,1.97,1.97(T,T,T)",0.0000(T),0.052,2.213757,3.87,3.87,0.260000,1.604000,-1.471000,0.921000,0.994000,0.000000,7.5644
missense_variant,ZNF571,MISSENSE,NM_001290314.1:p.Gln189His/c.567G>C,caG/caC,MODERATE,COSM1393235(2),0.179912,0.0288,rs8111790,1(T),0.001(B),-2.725(N),-0.9314(T),,chr19,38056763,38056763,C,G,het,"missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln189His/c.567G>C|609|ZNF571|protein_coding|CODING|NM_001290314.1|5|1),missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln189His/c.567G>C|609|ZNF571|protein_coding|CODING|NM_016536.4|4|1),intron_variant(MODIFIER|||n.208-170C>G||ZNF571-AS1||NON_CODING|NR_038247.1|1|1),intron_variant(MODIFIER|||n.338-170C>G||ZNF571-AS1||NON_CODING|NR_038248.1|2|1),intron_variant(MODIFIER|||n.296-170C>G||ZNF571-AS1||NON_CODING|NR_038249.1|1|1),intron_variant(MODIFIER|||n.296-3989C>G||ZNF571-AS1||NON_CODING|NR_038250.1|1|1),intron_variant(MODIFIER|||c.-73+14196C>G|660|ZNF540|protein_coding|CODING|NM_152606.4|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.2117,0.2651,0.3618,0.29,0.13,0.36,,,0.000(P),"4.75,4.75,4.75(T,T,T)",0.0000(T),0.078,-0.696452,3.49,-6.98,0.313000,-1.791000,-2.048000,0.706000,0.000000,0.000000,3.9809
missense_variant,ZNF540,MISSENSE,NM_001172225.2:p.Asp53Val/c.158A>T,gAt/gTt,MODERATE,COSM439368(2),0.367412,0.6528,rs1975937,0.01(D),0.008(B),2.18(M),-1.0481(T),,chr19,38091932,38091932,A,T,het,"missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp53Val/c.158A>T|660|ZNF540|protein_coding|CODING|NM_001172225.2|4|1),missense_variant(MODERATE|MISSENSE|gAt/gTt|p.Asp53Val/c.158A>T|660|ZNF540|protein_coding|CODING|NM_152606.4|4|1),intron_variant(MODIFIER|||c.136+1279A>T|628|ZNF540|protein_coding|CODING|NM_001172226.2|3|1)",CD4:H3K36me3,,,,0.3671,0.2651,0.167,0.22,0.31,0.18,,,0.757(P),5.48(T),0.0000(T),0.205,2.949743,1.66,-0.9,0.254000,-0.326000,0.083000,0.773000,0.357000,0.032000,2.3341
missense_variant,ZNF607,MISSENSE,NM_032689.4:p.Lys531Arg/c.1592A>G,aAa/aGa,MODERATE,COSM4000703(1),0.580871,0.3006,rs958305,0.06(T),"0.467,0.907(P,P)",-0.045(N),-1.0044(T),,chr19,38189440,38189440,T,C,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys530Arg/c.1589A>G|695|ZNF607|protein_coding|CODING|NM_001172677.1|5|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys531Arg/c.1592A>G|696|ZNF607|protein_coding|CODING|NM_032689.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6196,0.6715,0.831,0.73,0.57,0.81,,,0.992(P),"1.83,1.83(T,T)",0.0000(T),0.062,3.620744,2.26,1.19,0.459000,0.127000,0.118000,0.579000,0.485000,0.091000,6.2508
synonymous_variant,ZNF607,SILENT,NM_032689.4:p.Thr472Thr/c.1416A>G,acA/acG,LOW,COSM4000704(2),0.634984,0.3482,rs2075284,,,,,,chr19,38189616,38189616,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr471Thr/c.1413A>G|695|ZNF607|protein_coding|CODING|NM_001172677.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr472Thr/c.1416A>G|696|ZNF607|protein_coding|CODING|NM_032689.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6329,0.7378,0.834,0.78,0.69,0.82,,,,,,,,,,,,,,,,
missense_variant,ZNF607,MISSENSE,NM_032689.4:p.Ser2Ala/c.4T>G,Tcc/Gcc,MODERATE,,0.992412,0.9692,rs2909097,1(T),"0.0,0.001(B,B)",0.28(N),-0.9576(T),,chr19,38202516,38202516,A,C,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser2Ala/c.4T>G|695|ZNF607|protein_coding|CODING|NM_001172677.1|2|1),missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser2Ala/c.4T>G|696|ZNF607|protein_coding|CODING|NM_032689.4|2|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9928,1,1,1.00,1.00,1.00,,,1.000(P),"3.48,3.45(T,T)",0.0000(T),0.034,-1.165288,1.88,1.88,-0.215000,0.370000,-0.304000,0.033000,0.763000,0.387000,5.6458
missense_variant,ZNF573,MISSENSE,NM_001172690.1:p.Met523Val/c.1567A>G,Atg/Gtg,MODERATE,COSM4000705(1),0.725839,0.3472,rs3095726,0.02(D),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.395(N),-1.0244(T),,chr19,38229824,38229824,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met435Val/c.1303A>G|577|ZNF573|protein_coding|CODING|NM_001172689.1|6|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met523Val/c.1567A>G|665|ZNF573|protein_coding|CODING|NM_001172690.1|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met521Val/c.1561A>G|663|ZNF573|protein_coding|CODING|NM_001172691.1|5|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met435Val/c.1303A>G|577|ZNF573|protein_coding|CODING|NM_001172692.1|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met465Val/c.1393A>G|607|ZNF573|protein_coding|CODING|NM_152360.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6237,0.7579,0.833,0.87,0.96,0.82,,,0.000(P),"2.29,2.29,2.29,2.29(T,T,T,T)",0.0000(T),0.022,0.593398,2.25,-0.193,-0.221000,-0.269000,1.410000,0.755000,0.602000,0.001000,5.6351
synonymous_variant,ZNF573,SILENT,NM_001172690.1:p.Gly270Gly/c.810C>T,ggC/ggT,LOW,,0.00559105,0,rs80333275,,,,,,chr19,38230581,38230581,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly182Gly/c.546C>T|577|ZNF573|protein_coding|CODING|NM_001172689.1|6|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly270Gly/c.810C>T|665|ZNF573|protein_coding|CODING|NM_001172690.1|5|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly268Gly/c.804C>T|663|ZNF573|protein_coding|CODING|NM_001172691.1|5|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly182Gly/c.546C>T|577|ZNF573|protein_coding|CODING|NM_001172692.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly212Gly/c.636C>T|607|ZNF573|protein_coding|CODING|NM_152360.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0102,0.0072,0.0129,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,WDR87,SILENT,NM_001291088.1:p.Phe2736Phe/c.8208T>C,ttT/ttC,LOW,COSM3756726(3),0.191893,0.0298,rs73027454,,,,,,chr19,38376103,38376103,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe2736Phe/c.8208T>C|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe2697Phe/c.8091T>C|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.274,0.2622,0.3469,0.29,0.14,0.35,,,,,,,,,,,,,,,,
missense_variant,WDR87,MISSENSE,NM_001291088.1:p.His2609Leu/c.7826A>T,cAt/cTt,MODERATE,COSM4131764(1),0.881589,0.8998,rs10408510,1(T),"0.0,0.0(B,B)",-0.55(N),-0.9955(T),,chr19,38376485,38376485,T,A,hom,"missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His2609Leu/c.7826A>T|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),missense_variant(MODERATE|MISSENSE|cAt/cTt|p.His2570Leu/c.7709A>T|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8631,0.7485,0.81,0.94,0.75,,,1.000(P),"3.81,3.81(T,T)",0.0000(T),0.092,1.172027,4.28,4.28,-0.265000,0.976000,1.721000,0.008000,0.023000,0.096000,7.3376
missense_variant,WDR87,MISSENSE,NM_001291088.1:p.Val2301Glu/c.6902T>A,gTa/gAa,MODERATE,,1,1,rs7252765,0.61(T),"0.0,0.0(B,B)",-0.205(N),-0.9999(T),,chr19,38377409,38377409,A,T,hom,"missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val2301Glu/c.6902T>A|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),missense_variant(MODERATE|MISSENSE|gTa/gAa|p.Val2262Glu/c.6785T>A|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,1.000(P),"1.07,1.07(T,T)",0.0000(T),0.145,0.623439,4.12,-1.51,-0.668000,-0.394000,-0.635000,0.007000,0.000000,0.000000,0.4727
synonymous_variant,WDR87,SILENT,NM_001291088.1:p.Lys2249Lys/c.6747A>G,aaA/aaG,LOW,,0.881589,0.8998,rs7253969,,,,,,chr19,38377564,38377564,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys2249Lys/c.6747A>G|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys2210Lys/c.6630A>G|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8631,0.7485,0.81,0.94,0.75,,,,,,,,,,,,,,,,
missense_variant,WDR87,MISSENSE,NM_001291088.1:p.Arg2180Trp/c.6538C>T,Cgg/Tgg,MODERATE,COSM3756732(1),,,rs34785154,0.01(D),"0.001,0.001(B,B)",0.345(N),-0.9258(T),,chr19,38377773,38377773,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg2180Trp/c.6538C>T|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg2141Trp/c.6421C>T|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.25,0.42,0.18,,,1.000(P),"-0.17,-0.17(T,T)",0.0000(T),0.037,1.705740,4.6,-5.85,-0.321000,-0.872000,-0.512000,0.694000,0.015000,0.000000,2.8254
synonymous_variant,WDR87,SILENT,NM_001291088.1:p.Ser2068Ser/c.6204C>T,agC/agT,LOW,COSM1136176(1),0.400359,0.5764,rs60704260,,,,,,chr19,38378107,38378107,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser2068Ser/c.6204C>T|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser2029Ser/c.6087C>T|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3517,0.2911,0.172,0.26,0.46,0.18,,,,,,,,,,,,,,,,
missense_variant,WDR87,MISSENSE,NM_001291088.1:p.Asn1924Lys/c.5772C>G,aaC/aaG,MODERATE,,0.881589,0.8998,rs10422056,1(T),"0.0,0.0(B,B)",-0.345(N),-0.9864(T),,chr19,38378539,38378539,G,C,hom,"missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn1924Lys/c.5772C>G|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),missense_variant(MODERATE|MISSENSE|aaC/aaG|p.Asn1885Lys/c.5655C>G|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8631,0.7485,,,,,,1.000(P),"2.02,2.02(T,T)",0.0000(T),0.022,0.024102,4.54,1.06,-1.063000,-0.043000,0.923000,0.001000,0.000000,0.004000,5.4683
missense_variant,WDR87,MISSENSE,NM_001291088.1:p.Arg1622Gln/c.4865G>A,cGa/cAa,MODERATE,,,,rs6508750,0.67(T),"0.0,0.0(B,B)",-0.11(N),-0.9737(T),,chr19,38379446,38379446,C,T,het,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1622Gln/c.4865G>A|2912|WDR87|protein_coding|CODING|NM_001291088.1|6|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg1583Gln/c.4748G>A|2873|WDR87|protein_coding|CODING|NM_031951.4|6|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.49,0.73,0.39,,,1.000(P),"0.99,0.99(T,T)",0.0000(T),0.01,1.730380,3.34,-3.53,-0.734000,-0.583000,-1.560000,0.673000,0.000000,0.000000,1.9676
synonymous_variant,WDR87,SILENT,NM_001291088.1:p.Pro1086Pro/c.3258G>A,ccG/ccA,LOW,COSM3756733(1),0.646166,0.8214,rs953370,,,,,,chr19,38382328,38382328,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1086Pro/c.3258G>A|2912|WDR87|protein_coding|CODING|NM_001291088.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1047Pro/c.3141G>A|2873|WDR87|protein_coding|CODING|NM_031951.4|5|1)","HUVEC:H3K27me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5941,0.5331,0.4036,0.49,0.73,0.39,,,,,,,,,,,,,,,,
missense_variant,WDR87,MISSENSE,NM_001291088.1:p.Gly641Ala/c.1922G>C,gGc/gCc,MODERATE,,0.881989,0.8998,rs3894129,1(T),"0.0,0.0(B,B)",-2.015(N),-0.9939(T),,chr19,38384421,38384421,C,G,hom,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly641Ala/c.1922G>C|2912|WDR87|protein_coding|CODING|NM_001291088.1|4|1),missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly602Ala/c.1805G>C|2873|WDR87|protein_coding|CODING|NM_031951.4|4|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8631,0.7505,0.81,0.94,0.75,,0.023545(N),1.000(P),"3.13,3.13(T,T)",0.0000(T),0.032,0.922660,5.52,4.47,-0.132000,1.326000,1.763000,0.804000,1.000000,1.000000,8.1682
synonymous_variant,SIPA1L3,SILENT,NM_015073.2:p.Ser1254Ser/c.3762C>T,tcC/tcT,LOW,COSM1179783(1),0.290335,0.2381,rs332864,,,,,,chr19,38652993,38652993,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser1254Ser/c.3762C>T|1781|SIPA1L3|protein_coding|CODING|NM_015073.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NH-A:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.4254,0.2968,0.4682,0.34,0.14,0.44,,,,,,,,,,,,,,,,
missense_variant,RASGRP4,MISSENSE,NM_170604.2:p.Ile18Thr/c.53T>C,aTa/aCa,MODERATE,,0.538339,0.5536,rs892055,1(T),"0.0,0.0,0.011,0.0,0.0,0.0,0.0(B,B,B,B,B,B,B)",-1.39(N),-0.9349(T),,chr19,38912764,38912764,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile18Thr/c.53T>C|659|RASGRP4|protein_coding|CODING|NM_001146202.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile18Thr/c.53T>C|581|RASGRP4|protein_coding|CODING|NM_001146203.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile18Thr/c.53T>C|604|RASGRP4|protein_coding|CODING|NM_001146204.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile18Thr/c.53T>C|639|RASGRP4|protein_coding|CODING|NM_001146205.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile18Thr/c.53T>C|484|RASGRP4|protein_coding|CODING|NM_001146206.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile18Thr/c.53T>C|576|RASGRP4|protein_coding|CODING|NM_001146207.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile18Thr/c.53T>C|673|RASGRP4|protein_coding|CODING|NM_170604.2|2|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",Asperger_disorder,,,0.6063,0.4539,0.3549,0.42,0.58,0.35,,0.832255(N),1.000(P),"1.7,1.7,1.7,1.7(T,T,T,T)",0.0000(T),0.016,-2.119697,4.07,4.07,-0.355000,1.089000,2.730000,0.101000,0.059000,0.427000,10.0232
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Ala359Ala/c.1077T>C,gcT/gcC,LOW,COSM4131781(1),0.903954,0.9901,rs10406027,,,,,,chr19,38939408,38939408,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala359Ala/c.1077T>C|5038|RYR1|protein_coding|CODING|NM_000540.2|11|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala359Ala/c.1077T>C|5033|RYR1|protein_coding|CODING|NM_001042723.1|11|1)","H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000079119.1|RCV000119418.1,,0.7658,0.9323,0.8827,0.90,0.93,0.88,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Asn993Asn/c.2979C>T,aaC/aaT,LOW,COSM3756753(1),0.24401,0.4266,rs2228070,,,,,,chr19,38956839,38956839,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn993Asn/c.2979C>T|5038|RYR1|protein_coding|CODING|NM_000540.2|24|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn993Asn/c.2979C>T|5033|RYR1|protein_coding|CODING|NM_001042723.1|24|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3",,RCV000079139.1|RCV000119604.1,,0.3119,0.2176,0.2237,0.18,0.10,0.22,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Ile1152Ile/c.3456C>T,atC/atT,LOW,COSM148605(2),0.449281,0.4683,rs11083462,,,,,,chr19,38959680,38959680,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile1152Ile/c.3456C>T|5038|RYR1|protein_coding|CODING|NM_000540.2|26|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile1152Ile/c.3456C>T|5033|RYR1|protein_coding|CODING|NM_001042723.1|26|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000079140.1|RCV000119611.1,,0.5757,0.3357,0.3419,0.38,0.44,0.35,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Ala2500Ala/c.7500G>A,gcG/gcA,LOW,,0.150759,0.1776,rs2228072,,,,,,chr19,38991516,38991516,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2500Ala/c.7500G>A|5038|RYR1|protein_coding|CODING|NM_000540.2|47|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2500Ala/c.7500G>A|5033|RYR1|protein_coding|CODING|NM_001042723.1|47|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,"RCV000079165.1,RCV000119716.1",,0.2413,0.1124,0.0845,0.10,0.12,0.09,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Val2509Val/c.7527G>A,gtG/gtA,LOW,,0.135982,0.1776,rs2071088,,,,,,chr19,38991543,38991543,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val2509Val/c.7527G>A|5038|RYR1|protein_coding|CODING|NM_000540.2|47|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val2509Val/c.7527G>A|5033|RYR1|protein_coding|CODING|NM_001042723.1|47|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000079166.1|RCV000119720.1,,0.2413,0.1095,0.0845,0.09,0.09,0.09,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.His2621His/c.7863C>T,caC/caT,LOW,COSM148609(2),0.237819,0.3095,rs2229142,,,,,,chr19,38993547,38993547,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His2621His/c.7863C>T|5038|RYR1|protein_coding|CODING|NM_000540.2|49|1),synonymous_variant(LOW|SILENT|caC/caT|p.His2621His/c.7863C>T|5033|RYR1|protein_coding|CODING|NM_001042723.1|49|1)","H1ESC:H3K36me3,H1ESC:DNase1,HepG2:CTCF",,RCV000079172.1|RCV000119732.1,,0.3067,0.1902,0.16,0.16,0.19,0.14,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Thr2659Thr/c.7977G>A,acG/acA,LOW,COSM148610(1),0.41234,0.3532,rs2229144,,,,,,chr19,38994910,38994910,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr2659Thr/c.7977G>A|5038|RYR1|protein_coding|CODING|NM_000540.2|50|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr2659Thr/c.7977G>A|5033|RYR1|protein_coding|CODING|NM_001042723.1|50|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,RCV000079174.1|RCV000119736.1,,0.4785,0.3689,0.2982,0.32,0.46,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Ile2706Ile/c.8118T>C,atT/atC,LOW,COSM148611(2),0.415136,0.3532,rs2960340,,,,,,chr19,38995438,38995438,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile2706Ile/c.8118T>C|5038|RYR1|protein_coding|CODING|NM_000540.2|51|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile2706Ile/c.8118T>C|5033|RYR1|protein_coding|CODING|NM_001042723.1|51|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,RCV000079175.1|RCV000119738.1,,0.4918,0.3689,0.2992,0.32,0.46,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Asp2730Asp/c.8190T>C,gaT/gaC,LOW,COSM148612(1),0.417133,0.3532,rs2915951,,,,,,chr19,38995510,38995510,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2730Asp/c.8190T>C|5038|RYR1|protein_coding|CODING|NM_000540.2|51|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2730Asp/c.8190T>C|5033|RYR1|protein_coding|CODING|NM_001042723.1|51|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,RCV000079176.1|RCV000119741.1,,0.4928,0.3703,0.3072,0.32,0.46,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Glu2779Glu/c.8337G>A,gaG/gaA,LOW,COSM148613(2),0.40595,0.3532,rs2915952,,,,,,chr19,38995975,38995975,G,A,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2779Glu/c.8337G>A|5038|RYR1|protein_coding|CODING|NM_000540.2|53|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu2779Glu/c.8337G>A|5033|RYR1|protein_coding|CODING|NM_001042723.1|53|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,RCV000079177.1|RCV000119745.1,,0.4918,0.366,0.2982,0.31,0.43,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Ser2863Ser/c.8589T>C,agT/agC,LOW,COSM148614(2),0.408147,0.3532,rs2229146,,,,,,chr19,38996990,38996990,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser2863Ser/c.8589T>C|5038|RYR1|protein_coding|CODING|NM_000540.2|55|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser2863Ser/c.8589T>C|5033|RYR1|protein_coding|CODING|NM_001042723.1|55|1)","H1ESC:H3K36me3,HepG2:H3K27me3",,RCV000079178.1|RCV000119753.1,,0.4928,0.3674,0.3072,0.31,0.43,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Pro3062Pro/c.9186A>G,ccA/ccG,LOW,COSM3756756(2),0.406949,0.3532,rs2071089,,,,,,chr19,39002725,39002725,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3062Pro/c.9186A>G|5038|RYR1|protein_coding|CODING|NM_000540.2|62|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro3062Pro/c.9186A>G|5033|RYR1|protein_coding|CODING|NM_001042723.1|62|1)","H1ESC:H3K36me3,IMR90:H3K27me3",,RCV000079184.1|RCV000119767.1,,0.4928,0.366,0.3022,0.31,0.43,0.25,,,,,,,,,,,,,,,,
synonymous_variant,RYR1,SILENT,NM_000540.2:p.Tyr3406Tyr/c.10218C>T,taC/taT,LOW,,0.102236,0.1885,rs41274330,,,,,,chr19,39010053,39010053,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr3406Tyr/c.10218C>T|5038|RYR1|protein_coding|CODING|NM_000540.2|67|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr3406Tyr/c.10218C>T|5033|RYR1|protein_coding|CODING|NM_001042723.1|67|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000079116.1|RCV000119405.1,,0.2249,0.0764,0.0427,0.03,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,RYR1,MISSENSE,NM_000540.2:p.Asp4505His/c.13513G>C,Gat/Cat,MODERATE,,0.00179712,0,rs150396398,0.01(D),"0.998,0.999(D,D)",2.395(M),0.8564(D),,chr19,39057626,39057626,G,C,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp4505His/c.13513G>C|5038|RYR1|protein_coding|CODING|NM_000540.2|92|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp4500His/c.13498G>C|5033|RYR1|protein_coding|CODING|NM_001042723.1|91|1),splice_region_variant(LOW|||c.13513G>C|5038|RYR1|protein_coding|CODING|NM_000540.2|92|1),splice_region_variant(LOW|||c.13498G>C|5033|RYR1|protein_coding|CODING|NM_001042723.1|91|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000079129.1,,0.001,0.0043,0.004,0.00,0.00,0.00,,0.000003(U),0.996(D),"-3.79,-3.79,-3.79(D,D,D)",0.8843(D),0.748,0.794536,3.93,3.93,0.313000,2.496000,4.051000,0.086000,0.949000,1.000000,15.916
synonymous_variant,ACTN4,SILENT,NM_004924.4:p.Pro179Pro/c.537G>A,ccG/ccA,LOW,COSM3756760(1),0.115415,0.0089,rs11553600,,,,,,chr19,39196736,39196736,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro179Pro/c.537G>A|911|ACTN4|protein_coding|CODING|NM_004924.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1503,0.1527,0.2266,0.15,0.08,0.19,,,,,,,,,,,,,,,,
synonymous_variant,ACTN4,SILENT,NM_004924.4:p.Asn182Asn/c.546C>T,aaC/aaT,LOW,COSM3756761(1),0.339257,0.4276,rs3745859,,,,,,chr19,39196745,39196745,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn182Asn/c.546C>T|911|ACTN4|protein_coding|CODING|NM_004924.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3313,0.2853,0.4364,0.39,0.25,0.46,,,,,,,,,,,,,,,,
missense_variant,ACTN4,MISSENSE,NM_004924.4:p.Arg310Gln/c.929G>A,cGg/cAg,MODERATE,,0.0061901,0,rs112545413,0.13(T),"0.013,0.008(B,B)",1.15(L),-0.8760(T),,chr19,39207742,39207742,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg310Gln/c.929G>A|911|ACTN4|protein_coding|CODING|NM_004924.4|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0133,0.0101,0.0099,0.01,0.00,0.01,,0.000001(D),1.000(D),"-0.32,-0.32(T,T)",0.1386(T),0.3,3.431369,4.32,4.32,0.561000,2.399000,3.321000,0.977000,1.000000,1.000000,10.3956
synonymous_variant,ACTN4,SILENT,NM_004924.4:p.Leu855Leu/c.2563T>C,Tta/Cta,LOW,COSM3756763(2),0.1875,0.0565,rs1136956,,,,,,chr19,39219780,39219780,T,C,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu855Leu/c.2563T>C|911|ACTN4|protein_coding|CODING|NM_004924.4|20|1),downstream_gene_variant(MODIFIER||1052||719|CAPN12|protein_coding|CODING|NM_144691.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2618,0.2378,0.2913,0.21,0.14,0.25,,,,,,,,,,,,,,,,
synonymous_variant,CAPN12,SILENT,NM_144691.3:p.Phe629Phe/c.1887T>C,ttT/ttC,LOW,COSM4000716(1),0.801118,0.6369,rs4801861,,,,,,chr19,39224413,39224413,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe629Phe/c.1887T>C|719|CAPN12|protein_coding|CODING|NM_144691.3|18|1),"H1ESC:H3K36me3,K562:PolII,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.8395,0.6758,0.7763,0.82,0.95,0.75,,,,,,,,,,,,,,,,
missense_variant,CAPN12,MISSENSE,NM_144691.3:p.Thr334Ala/c.1000A>G,Acc/Gcc,MODERATE,COSM439436(2),0.115415,0.0089,rs73038948,0.03(D),0.76(P),1.37(L),-1.1104(T),,chr19,39228244,39228244,T,C,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr334Ala/c.1000A>G|719|CAPN12|protein_coding|CODING|NM_144691.3|9|1),H1ESC:H3K27me3,,,,0.1452,0.1556,0.2266,0.15,0.09,0.18,,0.025250(N),0.446(P),-2.21(D),0.0008(T),0.106,4.120996,3.9,3.9,0.454000,1.766000,0.567000,0.862000,0.873000,0.121000,10.9882
synonymous_variant,CAPN12,SILENT,NM_144691.3:p.Ala110Ala/c.330T>C,gcT/gcC,LOW,COSM3933026(1),0.671126,0.623,rs936524,,,,,,chr19,39233146,39233146,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala110Ala/c.330T>C|719|CAPN12|protein_coding|CODING|NM_144691.3|3|1),HepG2:H3K36me3,,,,0.8354,0.6196,0.7694,0.68,0.54,0.75,,,,,,,,,,,,,,,,
missense_variant,ECH1,MISSENSE,NM_001398.2:p.Gly217Arg/c.649G>A,Ggg/Agg,MODERATE,COSM4000717(1),0.0758786,0.0823,rs2229259,0(D),0.988(D),3.18(M),-0.8299(T),,chr19,39307103,39307103,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly217Arg/c.649G>A|328|ECH1|protein_coding|CODING|NM_001398.2|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0941,0.1571,0.0795,0.08,0.03,0.11,,0.000000(D),0.000(P),-2.15(D),0.0277(T),0.36,5.204563,4.92,4.92,0.561000,2.539000,6.830000,0.985000,1.000000,1.000000,17.0279
missense_variant,ECH1,MISSENSE,NM_001398.2:p.Glu41Ala/c.122A>C,gAg/gCg,MODERATE,COSM4131790(1),0.365016,0.244,rs9419,0.67(T),0.008(B),0.55(N),-0.9277(T),,chr19,39322087,39322087,T,G,het,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu41Ala/c.122A>C|328|ECH1|protein_coding|CODING|NM_001398.2|2|1),"NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,IMR90:H3K14ac,HSMM:H3K4me2,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,IMR90:H3K23ac,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.4356,0.4207,0.5915,0.45,0.25,0.55,,0.848028(U),1.000(P),-0.03(T),0.0000(T),0.098,1.675316,5.13,2.94,0.533000,0.799000,0.652000,0.016000,0.057000,0.001000,5.3291
missense_variant,RINL,MISSENSE,NM_001195833.1:p.Pro402Leu/c.1205C>T,cCc/cTc,MODERATE,COSM3746489(4),0.694289,0.7619,rs8110393,0.01(D),"0.038,0.038(B,B)",2.07(M),-1.0358(T),,chr19,39360720,39360720,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro402Leu/c.1205C>T|566|RINL|protein_coding|CODING|NM_001195833.1|9|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro288Leu/c.863C>T|452|RINL|protein_coding|CODING|NM_198445.3|9|1)","NHEK:CTCF,CD4:CBP,HeLa-S3:DNase1,CD4:H3K18ac,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HUVEC:Cmyc,HMEC:CTCF,NH-A:CTCF,GM12878:PolII,CD4:CTCF,GM12878:Rad21,HepG2:H3K36me3,CD4:PolII,CD4:HDAC1,HMEC:DNase1,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.6002,0.6153,0.4642,0.65,0.88,0.54,,0.003350(N),0.000(P),1.61(T),0.0000(T),0.1,3.320891,4.57,3.53,0.407000,1.273000,4.771000,0.313000,0.987000,1.000000,8.5759
missense_variant,RINL,MISSENSE,NM_001195833.1:p.Asn24Asp/c.70A>G,Aac/Gac,MODERATE,,0.41274,0.628,rs1001413,,,,,,chr19,39367111,39367111,T,C,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn24Asp/c.70A>G|566|RINL|protein_coding|CODING|NM_001195833.1|3|1),5_prime_UTR_variant(MODIFIER||4630|c.-273A>G|452|RINL|protein_coding|CODING|NM_198445.3|3|1)","HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2587,0.4741,0.3618,,,,,,,,,,,,,,,,,,,
synonymous_variant,FBXO17,SILENT,NM_148169.2:p.Tyr271Tyr/c.813T>C,taT/taC,LOW,COSM1129866(1),0.83726,0.9782,rs8113389,,,,,,chr19,39433299,39433299,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr262Tyr/c.786T>C|278|FBXO17|protein_coding|CODING|NM_024907.6|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr271Tyr/c.813T>C|287|FBXO17|protein_coding|CODING|NM_148169.2|6|1),non_coding_exon_variant(MODIFIER|||n.1069T>C||FBXO17||CODING|NR_104026.1|6|1)","HepG2:PolII,IMR90:H3K36me3",,,,0.7515,0.8314,0.671,0.71,0.88,0.62,,,,,,,,,,,,,,,,
synonymous_variant,FBXO17,SILENT,NM_148169.2:p.Pro23Pro/c.69A>G,ccA/ccG,LOW,COSM3766338(1),0.47484,0.6796,rs2304117,,,,,,chr19,39440918,39440918,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro14Pro/c.42A>G|278|FBXO17|protein_coding|CODING|NM_024907.6|2|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro23Pro/c.69A>G|287|FBXO17|protein_coding|CODING|NM_148169.2|2|1),non_coding_exon_variant(MODIFIER|||n.287A>G||FBXO17||CODING|NR_104026.1|2|1)","HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:PolII,H1ESC:H3K4me3",,,,0.5828,0.3746,0.4195,0.31,0.29,0.32,,,,,,,,,,,,,,,,
synonymous_variant,FBXO17,SILENT,NM_148169.2:p.Leu7Leu/c.21A>G,ctA/ctG,LOW,COSM3756768(3),0.47504,0.6796,rs2304118,,,,,,chr19,39440966,39440966,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu7Leu/c.21A>G|287|FBXO17|protein_coding|CODING|NM_148169.2|2|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||278|FBXO17|protein_coding|CODING|NM_024907.6|2|1),5_prime_UTR_variant(MODIFIER||7|c.-7A>G|278|FBXO17|protein_coding|CODING|NM_024907.6|2|1),non_coding_exon_variant(MODIFIER|||n.239A>G||FBXO17||CODING|NR_104026.1|2|1)","HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,HepG2:PolII,H1ESC:H3K4me3",,,,0.5828,0.3746,0.4195,0.31,0.28,0.32,,,,,,,,,,,,,,,,
synonymous_variant,PAPL,SILENT,NM_001004318.2:p.Thr358Thr/c.1074C>T,acC/acT,LOW,COSM3722933(1),0.226837,0.1488,rs1313617,,,,,,chr19,39592138,39592138,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr358Thr/c.1074C>T|438|PAPL|protein_coding|CODING|NM_001004318.2|11|1),"HMEC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.228,0.1671,0.2018,0.25,0.32,0.21,,,,,,,,,,,,,,,,
missense_variant,PLEKHG2,MISSENSE,NM_022835.2:p.Ala255Val/c.764C>T,gCg/gTg,MODERATE,,0.0155751,0.001,rs73033371,0.04(D),"0.014,0.027,0.035,0.003(B,B,B,B)",0.875(L),-1.0496(T),,chr19,39908214,39908214,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala255Val/c.764C>T|1386|PLEKHG2|protein_coding|CODING|NM_022835.2|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0259,0.0527,0.05,0.01,0.06,,0.005589(N),0.814(N),"-0.33,-0.33,-0.33,-0.33,-0.33(T,T,T,T,T)",0.0095(T),0.242,1.249167,4.68,1.33,-0.258000,0.304000,1.400000,0.271000,0.347000,0.867000,3.7828
synonymous_variant,SUPT5H,SILENT,NM_001111020.2:p.His234His/c.702C>T,caC/caT,LOW,,0.0427316,0.1032,rs2304216,,,,,,chr19,39955515,39955515,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His234His/c.702C>T|1087|SUPT5H|protein_coding|CODING|NM_001111020.2|11|1),synonymous_variant(LOW|SILENT|caC/caT|p.His234His/c.702C>T|1087|SUPT5H|protein_coding|CODING|NM_001130824.1|11|1),synonymous_variant(LOW|SILENT|caC/caT|p.His230His/c.690C>T|1083|SUPT5H|protein_coding|CODING|NM_001130825.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His234His/c.702C>T|1087|SUPT5H|protein_coding|CODING|NM_003169.3|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0389,0.0726,0.06,0.02,0.08,,,,,,,,,,,,,,,,
missense_variant,DLL3,MISSENSE,NM_016941.3:p.Leu142Gln/c.425T>A,cTg/cAg,MODERATE,,0.0397364,0.001,rs55741253,,"0.831,0.606,0.606(P,P,P)",2.265(M),-0.2797(T),,chr19,39993470,39993470,T,A,hom,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu142Gln/c.425T>A|618|DLL3|protein_coding|CODING|NM_016941.3|4|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu142Gln/c.425T>A|587|DLL3|protein_coding|CODING|NM_203486.2|4|1)","NHEK:CTCF,HeLa-S3:Cmyc,K562:Max,HeLa-S3:DNase1,K562:PolII,HUVEC:Max,HeLa-S3:Max,CD4:DNase1,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,K562:SETDB1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:Cmyc,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,CD4:CTCF,HepG2:CTCF,HepG2:DNase1,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,K562:H2AZ,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,K562:E2F4,HeLa-S3:E2F6",,RCV000034279.3,,0.0041,0.0461,0.0686,0.06,0.05,0.06,,0.003841(N),0.998(D),"-2.87,-2.94(D,D)",0.2374(T),0.237,2.344227,4.53,2.35,-0.441000,0.188000,2.188000,0.006000,0.961000,0.863000,4.7755
missense_variant,SELV,MISSENSE,NM_182704.1:p.Leu259Pro/c.776T>C,cTg/cCg,MODERATE,,0.000998403,0.001,rs145756298,0.28(T),0.003(B),0.69(N),-1.0556(T),,chr19,40006628,40006628,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu259Pro/c.776T>C|346|SELV|protein_coding|CODING|NM_182704.1|1|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0,0.0014,0.003,0.00,0.00,0.01,,,1.000(N),"0.77,0.77(T,T)",0.0446(T),0.147,2.621730,3.59,-3.23,0.369000,-0.939000,-0.893000,0.260000,0.000000,0.001000,2.9812
synonymous_variant,EID2B,SILENT,NM_152361.1:p.Ala45Ala/c.135T>C,gcT/gcC,LOW,COSM439481(11),0.801318,0.8442,rs1123301,,,,,,chr19,40023308,40023308,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala45Ala/c.135T>C|161|EID2B|protein_coding|CODING|NM_152361.1|1|1),"K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,HUVEC:CTCF,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.8405,0.6484,0.7425,0.78,0.87,0.73,,,,,,,,,,,,,,,,
synonymous_variant,EID2,SILENT,NM_153232.3:p.Val22Val/c.66C>G,gtC/gtG,LOW,COSM1162400(3),0.230232,0.2937,rs76765165,,,,,,chr19,40030654,40030654,G,C,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val22Val/c.66C>G|236|EID2|protein_coding|CODING|NM_153232.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4",,,,0.1789,0.2507,0.2614,,,,,,,,,,,,,,,,,,,
missense_variant,LGALS16,MISSENSE,NM_001190441.2:p.Leu97His/c.290T>A,cTc/cAc,MODERATE,,1,1,rs1860134,0.18(T),0.0(B),-1.355(N),-0.9810(T),,chr19,40149297,40149297,T,A,hom,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu97His/c.290T>A|142|LGALS16|protein_coding|CODING|NM_001190441.2|3|1),HeLa-S3:H3K27me3,,,,1,1,1,,,,,,1.000(P),3.4(T),0.0000(T),0.079,-1.196228,1.21,-2.41,-2.761000,-2.386000,-0.792000,0.026000,0.000000,0.000000,0.158
missense_variant,LGALS14,MISSENSE,NM_203471.1:p.Cys96Arg/c.286T>C,Tgt/Cgt,MODERATE,COSM3756789(2),0.637181,0.376,rs4830,1(T),"0.0,0.0(B,B)",-1.305(N),-1.0264(T),,chr19,40197924,40197924,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys67Arg/c.199T>C|139|LGALS14|protein_coding|CODING|NM_020129.2|3|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys96Arg/c.286T>C|168|LGALS14|protein_coding|CODING|NM_203471.1|4|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6912,0.5245,0.7038,0.71,0.79,0.67,,,1.000(P),"3.43,3.43(T,T)",0.0000(T),0.035,-2.625072,1.05,1.05,-0.642000,0.034000,0.232000,0.008000,0.005000,0.050000,3.5017
missense_variant,LGALS14,MISSENSE,NM_203471.1:p.Phe156Leu/c.468C>G,ttC/ttG,MODERATE,COSM148620(3),0.633786,0.376,rs10755,0.81(T),"0.0,0.001(B,B)",0.345(N),-1.0196(T),,chr19,40199914,40199914,C,G,hom,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe127Leu/c.381C>G|139|LGALS14|protein_coding|CODING|NM_020129.2|4|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe156Leu/c.468C>G|168|LGALS14|protein_coding|CODING|NM_203471.1|5|1)","HUVEC:H3K27me3,GM12878:H3K27ac,HeLa-S3:H3K27me3,GM12878:H3K4me1,HepG2:H3K27me3",,,,0.6912,0.5216,0.7038,0.71,0.78,0.67,,,1.000(P),"3.5,3.5(T,T)",0.0000(T),0.044,-1.247059,0.902,-0.278,-0.647000,-0.553000,-0.276000,0.002000,0.008000,0.088000,2.4839
synonymous_variant,CLC,SILENT,NM_001828.5:p.Asn80Asn/c.240T>C,aaT/aaC,LOW,COSM1129862(2),0.609225,0.3373,rs384138,,,,,,chr19,40224986,40224986,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn80Asn/c.240T>C|142|CLC|protein_coding|CODING|NM_001828.5|3|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6779,0.513,0.6988,0.70,0.76,0.67,,,,,,,,,,,,,,,,
missense_variant,CLC,MISSENSE,NM_001828.5:p.Ala28Val/c.83C>T,gCc/gTc,MODERATE,COSM148621(3),0.613618,0.3373,rs17608,0.7(T),0.0(B),-0.295(N),-1.0331(T),,chr19,40225646,40225646,G,A,hom,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala28Val/c.83C>T|142|CLC|protein_coding|CODING|NM_001828.5|2|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6779,0.5187,0.6988,0.70,0.77,0.67,,,1.000(P),2.28(T),0.0000(T),0.006,-1.189921,0.725,0.725,-0.965000,-0.271000,-0.110000,0.000000,0.001000,0.000000,.
missense_variant,FBL,MISSENSE,NM_001436.3:p.Ser126Leu/c.377C>T,tCg/tTg,MODERATE,,0.000998403,0,rs148300955,0.03(D),"0.014,0.014,0.008(B,B,B)",1.245(L),-0.8896(T),,chr19,40330874,40330874,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser126Leu/c.377C>T|321|FBL|protein_coding|CODING|NM_001436.3|4|1),splice_region_variant(LOW|||c.377C>T|321|FBL|protein_coding|CODING|NM_001436.3|4|1)","H1ESC:H3K36me3,K562:Max,K562:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:USF1,HSMM:DNase1,K562:Cmyc,IMR90:H3K36me3,K562:E2F6,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0.004,0.00,0.00,0.01,,0.009867(N),0.951(D),,0.0987(T),0.175,3.082098,5.08,4.02,0.511000,2.355000,4.295000,0.787000,0.914000,1.000000,9.547
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Ala5017Val/c.15050C>T,gCg/gTg,MODERATE,COSM4131821(1),0.275559,0.5367,rs741143,1(T),0.246(B),-0.505(N),-1.0128(T),,chr19,40363020,40363020,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala5017Val/c.15050C>T|5405|FCGBP|protein_coding|CODING|NM_003890.2|32|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2894,0.1571,0.1988,0.21,0.19,0.21,,0.011593(U),1.000(P),2.54(T),0.0000(T),0.062,-0.228255,4.9,-1.24,0.313000,0.005000,-0.017000,0.467000,0.029000,0.000000,4.4927
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Asp4906His/c.14716G>C,Gat/Cat,MODERATE,COSM148623(3),0.288339,0.5387,rs3746013,0.56(T),0.984(D),1.5(L),-0.9252(T),,chr19,40363926,40363926,C,G,het,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp4906His/c.14716G>C|5405|FCGBP|protein_coding|CODING|NM_003890.2|31|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.2904,0.1614,0.1998,0.22,0.23,0.21,,0.004304(U),1.000(P),0.26(T),0.0000(T),0.074,0.987678,5.34,-1.04,0.313000,-0.030000,0.392000,0.014000,0.005000,0.000000,6.206
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Leu4624Leu/c.13872C>G,ctC/ctG,LOW,COSM4131823(2),0.7502,0.7857,rs3855679,,,,,,chr19,40366362,40366362,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu4624Leu/c.13872C>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|30|1),"GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,K562:DNase1",,,,0.729,0.598,0.6431,0.72,0.87,0.65,,,,,,,,,,,,,,,,
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Pro4366Pro/c.13098A>G,ccA/ccG,LOW,COSM3933036(4),0.723442,0.7659,rs6508920,,,,,,chr19,40367862,40367862,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro4366Pro/c.13098A>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|29|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.6677,0.6628,0.5467,,,,,,,,,,,,,,,,,,,
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Glu4340Lys/c.13018G>A,Gaa/Aaa,MODERATE,COSM148624(3),,,rs74540349,0.61(T),0.001(B),-0.415(N),-1.1055(T),,chr19,40368330,40368330,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu4340Lys/c.13018G>A|5405|FCGBP|protein_coding|CODING|NM_003890.2|28|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,0.268942(N),1.000(P),-2.05(D),0.0000(T),0.031,0.478746,4.08,-8.16,0.305000,-1.584000,-7.283000,0.220000,0.001000,0.000000,2.0488
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Ala4324Ala/c.12972T>G,gcT/gcG,LOW,COSM4131825(1),,,rs75204711,,,,,,chr19,40368376,40368376,A,C,het,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala4324Ala/c.12972T>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|28|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Arg4318His/c.12953G>A,cGt/cAt,MODERATE,,0.608826,0.7252,rs28472548,0.17(T),0.001(B),0.79(N),-0.9142(T),,chr19,40368395,40368395,C,T,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg4318His/c.12953G>A|5405|FCGBP|protein_coding|CODING|NM_003890.2|28|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.5665,0.5605,0.5646,,,,,0.908795(N),1.000(P),-1.05(T),0.0000(T),0.088,-0.247062,4.08,3.05,-0.893000,0.238000,-0.731000,0.037000,0.006000,0.000000,7.8525
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Ser4284Ala/c.12850T>G,Tca/Gca,MODERATE,,0.995208,0.998,rs12610683,0.57(T),0.0(B),0.025(N),-0.9927(T),,chr19,40368498,40368498,A,C,hom,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser4284Ala/c.12850T>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|28|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.9918,0.9942,0.998,,,,,0.362942(N),1.000(P),-0.94(T),0.0000(T),0.08,-2.244289,4.08,1.86,-0.677000,0.129000,0.109000,0.004000,0.150000,0.000000,4.3759
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Leu4283Leu/c.12849T>G,ctT/ctG,LOW,,0.995208,0.998,rs11083540,,,,,,chr19,40368499,40368499,A,C,hom,synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu4283Leu/c.12849T>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|28|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.9918,0.9942,0.998,,,,,,,,,,,,,,,,,,,
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Gly4276Gly/c.12828C>G,ggC/ggG,LOW,COSM148625(2),0.47484,0.5853,rs36079378,,,,,,chr19,40368520,40368520,G,C,het,synonymous_variant(LOW|SILENT|ggC/ggG|p.Gly4276Gly/c.12828C>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|28|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.4703,0.3026,0.3698,,,,,,,,,,,,,,,,,,,
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Val4015Ala/c.12044T>C,gTg/gCg,MODERATE,COSM439495(6),,,rs138587194,0.82(T),0.001(B),-1.79(N),-0.9480(T),,chr19,40374034,40374034,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val4015Ala/c.12044T>C|5405|FCGBP|protein_coding|CODING|NM_003890.2|26|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,1.000(P),3.59(T),0.0036(T),0.105,-2.085982,2.99,1.93,-2.348000,0.147000,0.813000,0.003000,0.000000,0.001000,6.8179
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Ala3916Val/c.11747C>T,gCg/gTg,MODERATE,COSM3823071(3),,,rs77872255,0.24(T),0.34(B),2.545(M),-0.6716(T),,chr19,40376675,40376675,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala3916Val/c.11747C>T|5405|FCGBP|protein_coding|CODING|NM_003890.2|24|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K27ac,K562:H3K27me3,IMR90:H3K27me3",,,,,,,,,,,,1.000(N),-1.11(T),0.3622(T),0.219,3.215030,3.67,-0.612,0.313000,0.118000,-0.630000,0.896000,0.897000,0.000000,7.2433
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Lys3848Glu/c.11542A>G,Aag/Gag,MODERATE,COSM3734047(1),0.555511,0.6825,rs75009537,0.06(T),0.0(B),-0.255(N),-0.9518(T),,chr19,40376880,40376880,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys3848Glu/c.11542A>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|24|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K27ac,HMEC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.5184,0.4092,0.4533,0.38,0.51,0.32,,,1.000(P),2.24(T),0.0000(T),0.04,-0.887665,2.86,-5.72,-3.644000,-3.316000,-3.879000,0.003000,0.001000,0.000000,8.1249
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Ala3133Ala/c.9399T>C,gcT/gcC,LOW,,,,rs143306165,,,,,,chr19,40384605,40384605,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala3133Ala/c.9399T>C|5405|FCGBP|protein_coding|CODING|NM_003890.2|20|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Tyr3127Tyr/c.9381T>C,taT/taC,LOW,,,,rs151293840,,,,,,chr19,40384623,40384623,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr3127Tyr/c.9381T>C|5405|FCGBP|protein_coding|CODING|NM_003890.2|20|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Ala3123Ala/c.9369T>G,gcT/gcG,LOW,,,,rs200682066,,,,,,chr19,40384635,40384635,A,C,hom,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala3123Ala/c.9369T>G|5405|FCGBP|protein_coding|CODING|NM_003890.2|20|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Ser2674Ser/c.8022T>C,tcT/tcC,LOW,COSM3823079(2),,,rs62108883,,,,,,chr19,40392482,40392482,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser2674Ser/c.8022T>C|5405|FCGBP|protein_coding|CODING|NM_003890.2|16|1),"GM12878:H3K36me3,HepG2:H3K27ac,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Pro2625Ser/c.7873C>T,Ccc/Tcc,MODERATE,COSM3756791(3),0.270168,0.2093,rs80068592,1(T),0.573(P),2.185(M),-1.0001(T),,chr19,40392631,40392631,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro2625Ser/c.7873C>T|5405|FCGBP|protein_coding|CODING|NM_003890.2|16|1),"GM12878:H3K36me3,HepG2:H3K27ac,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2638,0.4121,0.3569,,,,,,0.924(P),2.2(T),0.0682(T),0.326,0.608327,2.66,2.66,0.298000,1.495000,0.899000,0.008000,0.110000,0.034000,12.5273
synonymous_variant,FCGBP,SILENT,NM_003890.2:p.Cys1609Cys/c.4827C>T,tgC/tgT,LOW,COSM3756792(3),0.261182,0.2163,rs2355719,,,,,,chr19,40406019,40406019,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys1609Cys/c.4827C>T|5405|FCGBP|protein_coding|CODING|NM_003890.2|10|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.2658,0.402,0.3419,,,,,,,,,,,,,,,,,,,
missense_variant,FCGBP,MISSENSE,NM_003890.2:p.Val1340Leu/c.4018G>C,Gtg/Ctg,MODERATE,COSM116255(3),0.257788,0.2173,rs11083543,0.65(T),0.033(B),0.7(N),-0.9574(T),,chr19,40408821,40408821,C,G,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val1340Leu/c.4018G>C|5405|FCGBP|protein_coding|CODING|NM_003890.2|8|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.271,0.4092,0.3608,0.28,0.14,0.35,,0.131345(N),1.000(P),0.31(T),0.0000(T),0.137,1.888760,4.95,-0.14,-0.182000,0.120000,-0.881000,0.023000,0.015000,0.000000,2.6779
synonymous_variant,MAP3K10,SILENT,NM_002446.3:p.Phe606Phe/c.1818T>C,ttT/ttC,LOW,COSM1612259(2),0.757188,0.6974,rs1129156,,,,,,chr19,40719076,40719076,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe606Phe/c.1818T>C|954|MAP3K10|protein_coding|CODING|NM_002446.3|8|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7771,0.7421,0.7505,0.75,0.80,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MAP3K10,SILENT,NM_002446.3:p.Asp831Asp/c.2493C>T,gaC/gaT,LOW,COSM3749510(6),0.749601,0.6974,rs3746005,,,,,,chr19,40720079,40720079,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp831Asp/c.2493C>T|954|MAP3K10|protein_coding|CODING|NM_002446.3|9|1),downstream_gene_variant(MODIFIER||1886||239|TTC9B|protein_coding|CODING|NM_152479.5||1)","IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7771,0.7392,0.7485,0.81,0.85,0.79,,,,,,,,,,,,,,,,
missense_variant,CNTD2,MISSENSE,NM_024877.3:p.Asp263His/c.787G>C,Gac/Cac,MODERATE,COSM3756793(1),0.00658946,0,rs147729392,0.1(T),0.335(B),0.695(N),-1.0564(T),,chr19,40729096,40729096,C,G,het,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp263His/c.787G>C|307|CNTD2|protein_coding|CODING|NM_024877.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:TAF1,H1ESC:H3K27me3,H1ESC:DNase1",,,,0.0143,0.0115,0.0109,,,,,,1.000(N),"1.6,1.6(T,T)",0.0343(T),0.138,1.109764,3.73,-0.127,-0.397000,-0.027000,-0.678000,0.001000,0.000000,0.000000,7.0704
missense_variant,PRX,MISSENSE,NM_181882.2:p.Gly1132Arg/c.3394G>A,Ggg/Agg,MODERATE,COSM3756794(1),0.965455,0.9821,rs268674,0.57(T),0.0(B),0.05(N),-1.0088(T),,chr19,40900865,40900865,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly1132Arg/c.3394G>A|1461|PRX|protein_coding|CODING|NM_181882.2|7|1),3_prime_UTR_variant(MODIFIER||3599|c.*3599G>A|147|PRX|protein_coding|CODING|NM_020956.2|6|1)","NHEK:H3K27me3,HepG2:H3K27me3",,RCV000118080.2,,0.9346,0.9683,0.9384,0.95,0.99,0.94,,0.602237(N),1.000(P),4.2(T),0.0000(T),0.023,-1.517125,4.68,3.64,-0.490000,0.285000,-0.104000,0.313000,0.003000,0.000000,6.6908
missense_variant,PRX,MISSENSE,NM_181882.2:p.Ile921Met/c.2763A>G,atA/atG,MODERATE,COSM3756795(5),0.296725,0.1885,rs268673,0.29(T),0.0(B),-0.345(N),-0.9192(T),,chr19,40901496,40901496,T,C,het,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile921Met/c.2763A>G|1461|PRX|protein_coding|CODING|NM_181882.2|7|1),3_prime_UTR_variant(MODIFIER||2968|c.*2968A>G|147|PRX|protein_coding|CODING|NM_020956.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000118077.2,,0.2505,0.3833,0.3767,0.37,0.32,0.39,,0.039096(N),0.000(P),4.05(T),0.0000(T),0.015,-0.559849,5.2,-5.36,-0.215000,-0.939000,-2.763000,0.076000,0.003000,0.000000,8.8913
synonymous_variant,PRX,SILENT,NM_181882.2:p.Pro885Pro/c.2655T>C,ccT/ccC,LOW,COSM4131847(1),0.531949,0.2401,rs268672,,,,,,chr19,40901604,40901604,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro885Pro/c.2655T>C|1461|PRX|protein_coding|CODING|NM_181882.2|7|1),3_prime_UTR_variant(MODIFIER||2860|c.*2860T>C|147|PRX|protein_coding|CODING|NM_020956.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000118076.2,,0.4775,0.4784,0.506,0.61,0.79,0.52,,,,,,,,,,,,,,,,
missense_variant,PRX,MISSENSE,NM_181882.2:p.Val882Ala/c.2645T>C,gTg/gCg,MODERATE,COSM4000733(2),0.531949,0.2401,rs268671,0.49(T),0.0(B),-0.55(N),-1.1375(T),,chr19,40901614,40901614,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val882Ala/c.2645T>C|1461|PRX|protein_coding|CODING|NM_181882.2|7|1),3_prime_UTR_variant(MODIFIER||2850|c.*2850T>C|147|PRX|protein_coding|CODING|NM_020956.2|6|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000118075.2,,0.4775,0.4784,0.506,0.61,0.79,0.52,,0.298050(N),1.000(P),5.32(T),0.0000(T),0.007,-1.538715,4.88,2.7,-0.900000,0.119000,2.680000,0.004000,0.033000,0.346000,7.2297
missense_variant,PRX,MISSENSE,NM_181882.2:p.Glu495Gln/c.1483G>C,Gag/Cag,MODERATE,COSM1393815(1),0.00559105,0,rs146789340,0.69(T),0.001(B),-1.95(N),-0.9092(T),,chr19,40902776,40902776,C,G,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu495Gln/c.1483G>C|1461|PRX|protein_coding|CODING|NM_181882.2|7|1),3_prime_UTR_variant(MODIFIER||1688|c.*1688G>C|147|PRX|protein_coding|CODING|NM_020956.2|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0102,0.0058,0.0119,0.01,0.00,0.02,,0.052956(N),0.668(D),4.46(T),0.0008(T),0.008,-1.833610,3.1,-3.1,-0.375000,-0.545000,0.170000,0.136000,0.311000,0.000000,8.6982
missense_variant,SERTAD1,MISSENSE,NM_013376.3:p.Thr31Ala/c.91A>G,Aca/Gca,MODERATE,,0.541933,0.2411,rs268687,0.78(T),0.0(B),0(N),-0.9883(T),,chr19,40929363,40929363,T,C,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr31Ala/c.91A>G|236|SERTAD1|protein_coding|CODING|NM_013376.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,IMR90:H3K79me2",,,,0.4714,0.4914,0.503,0.62,0.83,0.52,,0.001944(N),1.000(P),0.96(T),0.0000(T),0.008,-1.731682,5.0,1.5,-1.157000,0.173000,0.243000,0.048000,0.074000,0.923000,3.7036
missense_variant,SPTBN4,MISSENSE,NM_020971.2:p.Ala38Thr/c.112G>A,Gct/Act,MODERATE,COSM41074(2),0.179313,0.0099,rs73931308,0.1(T),"0.063,0.191(B,B)",0(N),-1.0652(T),,chr19,40978640,40978640,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala38Thr/c.112G>A|2564|SPTBN4|protein_coding|CODING|NM_020971.2|2|1),,,,,0.2362,0.1297,0.1581,0.20,0.30,0.16,,0.081415(U),0.000(P),"-1.0,-1.0,-1.1(T,T,T)",0.0000(T),0.286,1.611694,6.03,6.03,0.655000,2.854000,2.134000,0.060000,0.078000,0.017000,16.0667
synonymous_variant,SPTBN4,SILENT,NM_020971.2:p.Val304Val/c.912A>G,gtA/gtG,LOW,COSM3756797(3),0.377596,0.1766,rs814526,,,,,,chr19,41008049,41008049,A,G,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val304Val/c.912A>G|2564|SPTBN4|protein_coding|CODING|NM_020971.2|9|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3119,0.2507,0.3598,0.45,0.61,0.37,,,,,,,,,,,,,,,,
synonymous_variant,SPTBN4,SILENT,NM_020971.2:p.Asp571Asp/c.1713C>T,gaC/gaT,LOW,COSM3756799(1),0.188898,0.0833,rs7258094,,,,,,chr19,41012190,41012190,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp571Asp/c.1713C>T|2564|SPTBN4|protein_coding|CODING|NM_020971.2|13|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1789,0.1614,0.2167,0.24,0.26,0.24,,,,,,,,,,,,,,,,
missense_variant,SPTBN4,MISSENSE,NM_020971.2:p.Gly1331Ser/c.3991G>A,Ggc/Agc,MODERATE,,0.322684,0.0595,rs814501,0.26(T),"0.032,0.016,0.228,0.008,0.416,0.104(B,B,B,B,B,B)",0.235(N),-0.9319(T),,chr19,41038574,41038574,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly1331Ser/c.3991G>A|2564|SPTBN4|protein_coding|CODING|NM_020971.2|19|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly7Ser/c.19G>A|678|SPTBN4|protein_coding|CODING|NM_025213.2|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3057,0.2867,0.4722,0.49,0.44,0.52,,0.012981(N),0.000(P),"0.78,0.78,0.78,0.34(T,T,T,T)",0.0000(T),0.13,1.068837,4.86,2.62,0.561000,1.252000,1.662000,0.993000,0.986000,0.983000,7.6838
synonymous_variant,SHKBP1,SILENT,NM_138392.3:p.Ile21Ile/c.63T>C,atT/atC,LOW,COSM439543(1),0.148363,0.251,rs16974365,,,,,,chr19,41082868,41082868,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile21Ile/c.63T>C|707|SHKBP1|protein_coding|CODING|NM_138392.3|1|1),downstream_gene_variant(MODIFIER||503||2564|SPTBN4|protein_coding|CODING|NM_020971.2||1)","HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,K562:SP2,HUVEC:H3K9ac,H1ESC:SP1,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ELF1,HepG2:SP1,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Gabp,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HeLa-S3:Cfos,CD4:PolII,GM12878:Cfos,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1912,0.121,0.2107,0.13,0.04,0.18,,,,,,,,,,,,,,,,
synonymous_variant,SHKBP1,SILENT,NM_138392.3:p.Thr543Thr/c.1629A>G,acA/acG,LOW,COSM439545(3),0.577875,0.4107,rs396118,,,,,,chr19,41096189,41096189,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr543Thr/c.1629A>G|707|SHKBP1|protein_coding|CODING|NM_138392.3|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5542,0.5,0.501,0.59,0.77,0.50,,,,,,,,,,,,,,,,
missense_variant,LTBP4,MISSENSE,NM_001042544.1:p.Val194Ile/c.580G>A,Gta/Ata,MODERATE,COSM3766348(1),0.524361,0.4087,rs2303729,0.22(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9430(T),,chr19,41111069,41111069,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val194Ile/c.580G>A|1623|LTBP4|protein_coding|CODING|NM_001042544.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val127Ile/c.379G>A|1556|LTBP4|protein_coding|CODING|NM_001042545.1|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val157Ile/c.469G>A|1586|LTBP4|protein_coding|CODING|NM_003573.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:H3K9ac,HepG2:H3K4me2,CD4:H3K18ac,NHEK:H3K4me3,CD4:H2BK5ac,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,K562:E2F6,HeLa-S3:E2F4,HeLa-S3:PolII,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K4me2,HMEC:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HeLa-S3:E2F6",,,,0.5624,0.3689,0.4642,0.52,0.66,0.45,,0.407811(N),0.000(P),"-1.33,-1.34,-1.33(T,T,T)",0.0000(T),0.029,1.430658,4.07,1.86,-0.361000,0.617000,0.309000,0.472000,1.000000,0.883000,3.2656
missense_variant,LTBP4,MISSENSE,NM_001042544.1:p.Thr787Ala/c.2359A>G,Act/Gct,MODERATE,,0.495208,0.4067,rs1131620,1(T),"0.0,0.001,0.001,0.001(B,B,B,B)",-0.82(N),-0.9584(T),,chr19,41117869,41117869,A,G,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr787Ala/c.2359A>G|1623|LTBP4|protein_coding|CODING|NM_001042544.1|17|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr720Ala/c.2158A>G|1556|LTBP4|protein_coding|CODING|NM_001042545.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr750Ala/c.2248A>G|1586|LTBP4|protein_coding|CODING|NM_003573.2|17|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:H3K27me3",,,,0.5613,0.3516,0.4523,0.47,0.56,0.42,,0.036884(N),1.000(P),"-2.93,-2.93,-2.93,-2.93(D,D,D,D)",0.0000(T),0.044,-2.310438,4.74,2.52,-0.215000,0.154000,-0.532000,0.091000,0.406000,0.000000,4.7657
missense_variant,LTBP4,MISSENSE,NM_001042544.1:p.Thr820Ala/c.2458A>G,Acc/Gcc,MODERATE,COSM1583007(1),0.495008,0.4058,rs1051303,1(T),"0.0,0.0,0.001,0.001,0.001(B,B,B,B,B)",-1.3(N),-0.9464(T),,chr19,41118056,41118056,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr820Ala/c.2458A>G|1623|LTBP4|protein_coding|CODING|NM_001042544.1|18|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr753Ala/c.2257A>G|1556|LTBP4|protein_coding|CODING|NM_001042545.1|15|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr783Ala/c.2347A>G|1586|LTBP4|protein_coding|CODING|NM_003573.2|18|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.5613,0.3516,0.4523,0.47,0.57,0.42,,0.036731(N),0.000(P),"-2.28,-2.29,-2.28,-2.28(D,D,D,D)",0.0000(T),0.032,-1.194367,5.24,2.97,-3.448000,0.227000,-0.228000,0.639000,0.999000,0.000000,10.0898
missense_variant,LTBP4,MISSENSE,NM_001042544.1:p.Arg1141Cys/c.3421C>T,Cgt/Tgt,MODERATE,,0.417133,0.3442,rs10880,0.13(T),"0.432,0.004,0.004,0.007,0.004(B,B,B,B,B)",,-0.9757(T),,chr19,41128309,41128309,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1141Cys/c.3421C>T|1623|LTBP4|protein_coding|CODING|NM_001042544.1|26|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1074Cys/c.3220C>T|1556|LTBP4|protein_coding|CODING|NM_001042545.1|23|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg1104Cys/c.3310C>T|1586|LTBP4|protein_coding|CODING|NM_003573.2|26|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5153,0.2781,0.3917,0.37,0.42,0.34,,0.776722(N),0.000(P),"-1.36,-1.7,-1.37,-1.36(T,D,T,T)",0.0000(T),0.306,2.329196,3.81,3.81,0.462000,2.123000,1.785000,0.503000,0.429000,0.004000,11.3301
missense_variant,LTBP4,MISSENSE,NM_001042544.1:p.Thr1296Ile/c.3887C>T,aCa/aTa,MODERATE,,0.51877,0.3601,rs7367,,,,,,chr19,41129842,41129842,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1296Ile/c.3887C>T|1623|LTBP4|protein_coding|CODING|NM_001042544.1|29|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1229Ile/c.3686C>T|1556|LTBP4|protein_coding|CODING|NM_001042545.1|26|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr1259Ile/c.3776C>T|1586|LTBP4|protein_coding|CODING|NM_003573.2|29|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.3887C>T|1623|LTBP4|protein_coding|CODING|NM_001042544.1|29|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.3686C>T|1556|LTBP4|protein_coding|CODING|NM_001042545.1|26|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_region_variant(LOW|||c.3776C>T|1586|LTBP4|protein_coding|CODING|NM_003573.2|29|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:PolII,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:SP1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,K562:Cmyc,IMR90:H3K36me3,K562:Egr1,NHEK:H3K36me3,GM06990:H3K36me3,K562:SP1,NHEK:DNase1,K562:DNase1",,,,0.5266,0.3329,0.4274,0.51,0.74,0.40,,,,,,,,,,,,,,,,
synonymous_variant,NUMBL,SILENT,NM_004756.4:p.Gln441Gln/c.1323G>A,caG/caA,LOW,COSM3756801(5),0.661941,0.5298,rs2604901,,,,,,chr19,41173880,41173880,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln400Gln/c.1200G>A|568|NUMBL|protein_coding|CODING|NM_001289979.1|9|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln400Gln/c.1200G>A|568|NUMBL|protein_coding|CODING|NM_001289980.1|9|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln441Gln/c.1323G>A|609|NUMBL|protein_coding|CODING|NM_004756.4|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.5072,0.5905,0.71,0.88,0.62,,,,,,,,,,,,,,,,
missense_variant,ADCK4,MISSENSE,NM_024876.3:p.His174Arg/c.521A>G,cAc/cGc,MODERATE,COSM148631(3),0.477436,0.4782,rs3865452,0.55(T),"0.0,0.0(B,B)",-1.525(N),-0.9179(T),,chr19,41211056,41211056,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His133Arg/c.398A>G|503|ADCK4|protein_coding|CODING|NM_001142555.2|6|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His174Arg/c.521A>G|544|ADCK4|protein_coding|CODING|NM_024876.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5337,0.6441,0.4901,0.45,0.37,0.49,,0.000041(N),1.000(P),"-0.71,-0.32,-0.32(T,T,T)",0.0000(T),0.043,-0.137935,5.04,2.89,-0.215000,0.544000,0.735000,0.293000,0.995000,0.996000,8.2791
missense_variant,C19orf54,MISSENSE,NM_198476.3:p.Arg70Pro/c.209G>C,cGt/cCt,MODERATE,COSM3823143(2),0.756789,0.6349,rs2254343,1(T),0.0(B),-1.845(N),-0.9722(T),,chr19,41255500,41255500,C,G,hom,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg70Pro/c.209G>C|351|C19orf54|protein_coding|CODING|NM_198476.3|1|1),upstream_gene_variant(MODIFIER||1259||282|SNRPA|protein_coding|CODING|NM_004596.4||1)","K562:ZBTB7A,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,K562:H3K27ac,GM12878:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,GM06990:H3K4me3,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,K562:DNase1",,,,0.6943,0.7968,0.7247,,,,,0.720321(N),0.000(P),,0.0000(T),0.264,0.701392,4.59,4.59,-0.120000,1.160000,2.689000,0.836000,0.997000,1.000000,10.7158
synonymous_variant,CYP2A6,SILENT,NM_000762.5:p.His415His/c.1245C>T,caC/caT,LOW,,0.0694888,0.0347,rs2002977,,,,,,chr19,41350594,41350594,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His415His/c.1245C>T|494|CYP2A6|protein_coding|CODING|NM_000762.5|8|1),"HUVEC:H3K27me3,CD4:H4K91ac,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0603,0.0274,0.0835,0.08,0.09,0.08,,,,,,,,,,,,,,,,
missense_variant,CYP2A6,MISSENSE,NM_000762.5:p.Phe392Tyr/c.1175T>A,tTc/tAc,MODERATE,,0.986422,0.9891,rs1809810,0.55(T),0.084(B),1.245(L),-0.9899(T),,chr19,41350664,41350664,A,T,hom,missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe392Tyr/c.1175T>A|494|CYP2A6|protein_coding|CODING|NM_000762.5|8|1),"HUVEC:H3K27me3,CD4:H4K91ac,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9775,0.9841,0.9841,,,,,0.013242(U),0.989(P),-0.35(T),0.0000(T),0.26,1.098798,3.39,2.31,0.312000,0.286000,1.695000,0.952000,0.997000,0.038000,6.0955
synonymous_variant,CYP2A6,SILENT,NM_000762.5:p.Arg257Arg/c.771C>T,cgC/cgT,LOW,,0.0571086,0.0298,rs1809811,,,,,,chr19,41352840,41352840,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg257Arg/c.771C>T|494|CYP2A6|protein_coding|CODING|NM_000762.5|5|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0521,0.0245,0.0795,0.08,0.08,0.08,,,,,,,,,,,,,,,,
synonymous_variant,CYP2A6,SILENT,NM_000762.5:p.Gln48Gln/c.144G>A,caG/caA,LOW,,0.0611022,0.0308,rs56283800,,,,,,chr19,41356188,41356188,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|494|CYP2A6|protein_coding|CODING|NM_000762.5|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0562,0.0274,0.0855,0.08,0.08,0.08,,,,,,,,,,,,,,,,
synonymous_variant,CYP2A6,SILENT,NM_000762.5:p.Val17Val/c.51A>G,gtA/gtG,LOW,,0.760583,0.7867,rs1137115,,,,,,chr19,41356281,41356281,T,C,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val17Val/c.51A>G|494|CYP2A6|protein_coding|CODING|NM_000762.5|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6626,0.8127,0.7724,0.76,0.78,0.75,,,,,,,,,,,,,,,,
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Val479Gly/c.1436T>G,gTc/gGc,MODERATE,COSM4131878(1),0.714257,0.6577,rs12460590,1(T),"0.0,0.0(B,B)",-2.775(N),-0.9600(T),,chr19,41381647,41381647,A,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val479Gly/c.1436T>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|9|1),missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val428Gly/c.1283T>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|8|1)","K562:Max,CD4:H3K18ac,K562:PolII,HUVEC:H3K27me3,K562:H3K27ac,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,K562:USF1,K562:Cmyc,K562:E2F6,NHEK:H3K27me3,K562:ELF1,HeLa-S3:H3K27me3,IMR90:H3K27me3,CD4:PolII,CD4:H2BK120ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:PU1,K562:SP1,K562:H3K4me2,GM06990:DNase1,K562:H2AZ,K562:DNase1",,,,0.6994,0.6657,0.672,,,,,0.001206(N),0.944(P),"5.13,2.75(T,T)",0.0000(T),0.204,-0.449160,2.22,2.22,-1.043000,0.260000,1.359000,0.113000,0.006000,0.002000,9.038
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Lys420Met/c.1259A>T,aAg/aTg,MODERATE,,0.0607029,0.0308,rs75152309,0(D),"0.648,0.882,0.879(P,P,P)",2.475(M),-0.6966(T),,chr19,41382476,41382476,T,A,het,"missense_variant(MODERATE|MISSENSE|aAg/aTg|p.Lys420Met/c.1259A>T|494|CYP2A7|protein_coding|CODING|NM_000764.2|8|1),missense_variant(MODERATE|MISSENSE|aAg/aTg|p.Lys369Met/c.1106A>T|443|CYP2A7|protein_coding|CODING|NM_030589.2|7|1)","HUVEC:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0501,0.0231,0.0934,0.08,0.08,0.08,,0.000005(U),0.916(P),"-0.53,-0.53(T,T)",0.0183(T),0.094,2.079321,2.18,2.18,0.155000,1.001000,5.281000,0.165000,0.978000,0.771000,9.0853
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Phe392Tyr/c.1175T>A,tTc/tAc,MODERATE,COSM328445(3),0.0353435,0.0308,rs150890087,0.54(T),"0.044,0.026,0.119(B,B,B)",0.785(N),-1.1050(T),,chr19,41382560,41382560,A,T,het,"missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe392Tyr/c.1175T>A|494|CYP2A7|protein_coding|CODING|NM_000764.2|8|1),missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe341Tyr/c.1022T>A|443|CYP2A7|protein_coding|CODING|NM_030589.2|7|1)","HUVEC:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:SP1",,,,0.0368,0.013,0.0557,0.04,0.01,0.06,,0.013242(U),0.997(N),"-0.35,-0.35(T,T)",0.0206(T),0.108,-0.130540,2.18,0.919,0.155000,1.001000,1.227000,0.461000,0.997000,0.003000,5.0147
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Arg381Trp/c.1141C>T,Cgg/Tgg,MODERATE,,0.00698882,0.001,rs111390860,0(D),"0.997,0.996,0.989(D,D,D)",3.16(M),-1.0946(T),,chr19,41383115,41383115,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg381Trp/c.1141C>T|494|CYP2A7|protein_coding|CODING|NM_000764.2|7|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg330Trp/c.988C>T|443|CYP2A7|protein_coding|CODING|NM_030589.2|6|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0061,0.0072,0.0219,0.02,0.01,0.03,,0.000017(U),1.000(N),"5.01,2.64(T,T)",0.0418(T),0.186,2.327894,2.29,1.16,0.184000,0.273000,0.512000,0.258000,0.002000,0.000000,8.2392
synonymous_variant,CYP2A7,SILENT,NM_000764.2:p.Thr347Thr/c.1041C>G,acC/acG,LOW,COSM4000743(1),0.11242,0.1796,rs2302986,,,,,,chr19,41383215,41383215,G,C,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr347Thr/c.1041C>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|7|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr296Thr/c.888C>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|6|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.136,0.1455,0.1044,0.09,0.05,0.11,,,,,,,,,,,,,,,,
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Thr347Ala/c.1039A>G,Acc/Gcc,MODERATE,COSM4000745(1),0.185703,0.2123,rs2302987,0.57(T),"0.001,0.001(B,B)",-1.02(N),-1.0491(T),,chr19,41383217,41383217,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr347Ala/c.1039A>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|7|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr296Ala/c.886A>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|6|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.136,0.1124,0.2386,0.22,0.19,0.23,,0.231229(N),1.000(P),"-0.22,-0.22(T,T)",0.0000(T),0.039,-2.672588,2.18,-1.22,-1.372000,-0.391000,-2.409000,0.217000,0.151000,0.000000,3.328
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Arg311Cys/c.931C>T,Cgc/Tgc,MODERATE,COSM3756809(1),0.519169,0.4405,rs3869579,0(D),"1.0,0.979,1.0(D,D,D)",1.89(L),-0.8870(T),,chr19,41383799,41383799,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg311Cys/c.931C>T|494|CYP2A7|protein_coding|CODING|NM_000764.2|6|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg260Cys/c.778C>T|443|CYP2A7|protein_coding|CODING|NM_030589.2|5|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6176,0.6744,0.5189,0.49,0.45,0.51,,0.000000(U),0.068(P),"-0.38,-0.38(T,T)",0.0000(T),0.288,1.548885,2.18,2.18,0.184000,1.215000,0.766000,0.070000,0.152000,0.002000,11.4495
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.His274Arg/c.821A>G,cAc/cGc,MODERATE,,0.794329,0.6508,rs4079366,0.49(T),"0.001,0.001(B,B)",-0.515(N),-1.0184(T),,chr19,41384675,41384675,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His274Arg/c.821A>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|5|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His223Arg/c.668A>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|4|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7536,0.8156,0.7584,0.79,0.92,0.73,,0.000525(N),1.000(P),"-0.26,-0.26(T,T)",0.0000(T),0.054,-0.785978,2.18,-0.0723,-1.160000,-0.104000,-0.072000,0.217000,0.719000,0.000000,5.5436
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Gln265Arg/c.794A>G,cAg/cGg,MODERATE,,0.139577,0.0456,rs117539170,1(T),"0.0,0.001(B,B)",-2.145(N),-1.0201(T),,chr19,41384702,41384702,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln265Arg/c.794A>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln214Arg/c.641A>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|4|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1278,0.1052,0.2336,,,,,0.000051(N),1.000(P),"-0.09,-0.09(T,T)",0.0000(T),0.247,-0.995466,2.18,2.18,-1.160000,0.257000,1.278000,0.219000,0.033000,0.002000,6.4282
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Lys239Gln/c.715A>C,Aag/Cag,MODERATE,,,,rs112946838,0.09(T),"0.411,0.049,1.0(B,B,D)",1.26(L),-0.9078(T),,chr19,41384781,41384781,T,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys239Gln/c.715A>C|494|CYP2A7|protein_coding|CODING|NM_000764.2|5|1),missense_variant(MODERATE|MISSENSE|Aag/Cag|p.Lys188Gln/c.562A>C|443|CYP2A7|protein_coding|CODING|NM_030589.2|4|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.002815(N),1.000(P),"-0.48,-0.48(T,T)",0.0078(T),0.276,1.644681,2.18,1.04,0.155000,0.072000,-0.686000,0.096000,0.001000,0.000000,2.7746
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Asp169Glu/c.507T>G,gaT/gaG,MODERATE,COSM3927736(1),0.519169,0.4395,rs4142867,0.04(D),"0.014,0.098,0.218(B,B,B)",2.085(M),-0.9657(T),,chr19,41386136,41386136,A,C,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp169Glu/c.507T>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|4|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp118Glu/c.354T>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|3|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6176,0.6758,0.5189,0.49,0.45,0.51,,0.000274(U),1.000(P),"-0.66,-0.66(T,T)",0.0000(T),0.196,1.669766,2.2,-0.181,0.157000,-0.239000,-0.547000,0.201000,0.715000,0.310000,5.7105
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Ser153Ala/c.457T>G,Tcg/Gcg,MODERATE,COSM115791(3),0.51857,0.4405,rs56081734,1(T),"0.001,0.001,0.001(B,B,B)",-1.63(N),-0.9340(T),,chr19,41386420,41386420,A,C,het,"missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser153Ala/c.457T>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|3|1),missense_variant(MODERATE|MISSENSE|Tcg/Gcg|p.Ser102Ala/c.304T>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|2|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.6176,0.6744,0.5189,0.47,0.43,0.49,,0.000023(N),1.000(P),"-0.06,-0.06(T,T)",0.0000(T),0.054,-1.508056,2.22,2.22,-1.043000,0.260000,0.384000,0.004000,0.008000,0.060000,3.9601
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Ala131Ser/c.391G>T,Gcc/Tcc,MODERATE,COSM3226399(2),0.517772,0.4405,rs3815708,1(T),"0.003,0.001,0.003(B,B,B)",-0.325(N),-0.9992(T),,chr19,41386486,41386486,C,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala131Ser/c.391G>T|494|CYP2A7|protein_coding|CODING|NM_000764.2|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala80Ser/c.238G>T|443|CYP2A7|protein_coding|CODING|NM_030589.2|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.6145,0.6715,0.5169,,,,,0.004234(N),1.000(N),"-0.19,-0.19(T,T)",0.0719(T),0.131,-1.159434,2.22,2.22,-1.241000,0.110000,0.194000,0.008000,0.035000,0.904000,7.3989
synonymous_variant,CYP2A7,SILENT,NM_000764.2:p.Phe130Phe/c.390T>C,ttT/ttC,LOW,COSM4131882(2),0.517772,0.4405,rs3815709,,,,,,chr19,41386487,41386487,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe130Phe/c.390T>C|494|CYP2A7|protein_coding|CODING|NM_000764.2|3|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe79Phe/c.237T>C|443|CYP2A7|protein_coding|CODING|NM_030589.2|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.6145,0.6715,0.5169,,,,,,,,,,,,,,,,,,,
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Leu128Arg/c.383T>G,cTg/cGg,MODERATE,COSM1393917(4),0.514976,0.4395,rs3815710,1(T),"0.0,0.0,0.001(B,B,B)",-3.83(N),-0.9746(T),,chr19,41386494,41386494,A,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu128Arg/c.383T>G|494|CYP2A7|protein_coding|CODING|NM_000764.2|3|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu77Arg/c.230T>G|443|CYP2A7|protein_coding|CODING|NM_030589.2|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.6135,0.6686,0.5109,,,,,0.000000(N),1.000(P),"6.84,4.45(T,T)",0.0000(T),0.241,-0.595252,2.22,2.22,-1.043000,0.260000,3.897000,0.004000,0.009000,0.093000,9.038
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Ala117Val/c.350C>T,gCg/gTg,MODERATE,COSM3746495(6),0.517971,0.4405,rs58798281,0.76(T),"0.02,0.016,0.013(B,B,B)",-0.21(N),-0.9272(T),,chr19,41386527,41386527,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala117Val/c.350C>T|494|CYP2A7|protein_coding|CODING|NM_000764.2|3|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala66Val/c.197C>T|443|CYP2A7|protein_coding|CODING|NM_030589.2|2|1)","HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.6155,0.6729,0.5169,,,,,0.314179(N),1.000(P),"-0.29,-0.29(T,T)",0.0000(T),0.106,-1.248973,2.16,1.06,-1.514000,-0.117000,-0.684000,0.016000,0.000000,0.000000,8.261
synonymous_variant,CYP2A7,SILENT,NM_000764.2:p.Leu73Leu/c.217T>C,Ttg/Ctg,LOW,COSM3766352(1),0.517971,0.4405,rs10425150,,,,,,chr19,41387620,41387620,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu73Leu/c.217T>C|494|CYP2A7|protein_coding|CODING|NM_000764.2|2|1),intron_variant(MODIFIER|||c.190+306T>C|443|CYP2A7|protein_coding|CODING|NM_030589.2|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6227,0.6729,0.508,,,,,,,,,,,,,,,,,,,
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Cys64Arg/c.190T>C,Tgc/Cgc,MODERATE,,0.518371,0.4435,rs10425169,0.59(T),"0.0,0.0(B,B)",-2.36(N),-0.9370(T),,chr19,41387647,41387647,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys64Arg/c.190T>C|494|CYP2A7|protein_coding|CODING|NM_000764.2|2|1),intron_variant(MODIFIER|||c.190+279T>C|443|CYP2A7|protein_coding|CODING|NM_030589.2|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6227,0.6729,0.508,,,,,0.203231(N),1.000(P),-0.21(T),0.0000(T),0.125,-0.645576,2.18,-3.28,-1.160000,-0.663000,-0.097000,0.021000,0.005000,0.000000,3.6781
missense_variant,CYP2A7,MISSENSE,NM_000764.2:p.Phe61Ile/c.181T>A,Ttc/Atc,MODERATE,COSM148635(2),0.518171,0.4435,rs10425176,0.18(T),"0.0,0.0(B,B)",0.37(N),-0.9421(T),,chr19,41387656,41387656,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe61Ile/c.181T>A|494|CYP2A7|protein_coding|CODING|NM_000764.2|2|1),splice_region_variant(LOW|||c.181T>A|494|CYP2A7|protein_coding|CODING|NM_000764.2|2|1),intron_variant(MODIFIER|||c.190+270T>A|443|CYP2A7|protein_coding|CODING|NM_030589.2|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6227,0.6729,0.508,,,,,0.223381(N),0.000(P),-0.33(T),0.0000(T),0.185,0.644238,2.18,-3.14,-1.782000,-1.091000,-1.533000,0.039000,0.201000,0.007000,5.071
missense_variant,CYP2B6,MISSENSE,NM_000767.4:p.Gln172His/c.516G>T,caG/caT,MODERATE,COSM3756813(2),0.315695,0.2153,rs3745274,0.12(T),0.005(B),0.53(N),-1.0335(T),,chr19,41512841,41512841,G,T,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln172His/c.516G>T|491|CYP2B6|protein_coding|CODING|NM_000767.4|4|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000022520.23|RCV000022521.2,,0.3814,0.3732,0.2356,0.29,0.37,0.25,,0.000465(N),1.000(P),-0.41(T),0.0000(T),0.07,0.704176,4.48,-8.96,-1.412000,-1.641000,-1.320000,0.012000,0.000000,0.000000,1.071
missense_variant,CYP2B6,MISSENSE,NM_000767.4:p.Lys262Arg/c.785A>G,aAg/aGg,MODERATE,COSM4131883(1),,,rs2279343,1(T),0.001(B),-2.86(N),-0.9025(T),,chr19,41515263,41515263,A,G,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys262Arg/c.785A>G|491|CYP2B6|protein_coding|CODING|NM_000767.4|5|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000106294.1,,,,,,,,,0.000052(N),1.000(P),-0.15(T),0.0263(T),0.035,-0.848537,4.45,-1.73,-1.391000,-0.371000,2.046000,0.051000,0.001000,0.969000,7.1674
synonymous_variant,CYP2F1,SILENT,NM_000774.3:p.Pro32Pro/c.96G>A,ccG/ccA,LOW,COSM3756815(2),0.414137,0.2798,rs305968,,,,,,chr19,41622189,41622189,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro32Pro/c.96G>A|491|CYP2F1|protein_coding|CODING|NM_000774.3|2|1),"CD4:H2BK20ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3763,0.4957,0.3131,0.39,0.54,0.31,,,,,,,,,,,,,,,,
missense_variant,CYP2F1,MISSENSE,NM_000774.3:p.Ser38Pro/c.112T>C,Tca/Cca,MODERATE,,0.0601038,0.0288,rs58285195,1(T),"0.0,0.0(B,B)",-4.155(N),-0.9453(T),,chr19,41622205,41622205,T,C,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser38Pro/c.112T>C|491|CYP2F1|protein_coding|CODING|NM_000774.3|2|1),"CD4:H2BK20ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0869,0.0793,0.0427,0.05,0.08,0.04,,0.000000(N),0.991(N),3.32(T),0.0001(T),0.109,-0.865854,3.79,3.79,-0.255000,0.817000,3.722000,0.253000,0.033000,0.955000,10.593
missense_variant,CYP2F1,MISSENSE,NM_000774.3:p.Asp218Asn/c.652G>A,Gac/Aac,MODERATE,COSM4131885(3),0.396765,0.2877,rs80319612,1(T),"0.016,0.001,0.001(B,B,B)",-1.3(N),-0.9263(T),,chr19,41627868,41627868,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp218Asn/c.652G>A|491|CYP2F1|protein_coding|CODING|NM_000774.3|6|1),"CD4:H4K91ac,CD4:H2BK20ac,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,CD4:H3K4me1,CD4:H2BK120ac",,,,0.362,0.4841,0.3091,0.37,0.51,0.29,,0.000000(N),1.000(P),-0.42(T),0.0000(T),0.017,-1.929886,3.04,3.04,-2.092000,0.241000,-0.513000,0.009000,0.905000,0.000000,6.7434
synonymous_variant,CYP2S1,SILENT,NM_030622.6:p.Pro74Pro/c.222G>C,ccG/ccC,LOW,COSM4131887(1),0.877796,0.7897,rs338599,,,,,,chr19,41700493,41700493,G,C,hom,synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro74Pro/c.222G>C|504|CYP2S1|protein_coding|CODING|NM_030622.6|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,H1ESC:H3K4me2,H1ESC:DNase1,H1ESC:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.8814,0.9323,0.9453,0.93,0.88,0.96,,,,,,,,,,,,,,,,
missense_variant,AXL,MISSENSE,NM_021913.4:p.Asn266Asp/c.796A>G,Aac/Gac,MODERATE,,1,1,rs7249222,0.98(T),"0.0,0.0(B,B)",-0.69(N),-0.9645(T),,chr19,41743861,41743861,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn266Asp/c.796A>G|885|AXL|protein_coding|CODING|NM_001699.5|7|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn266Asp/c.796A>G|894|AXL|protein_coding|CODING|NM_021913.4|7|1),5_prime_UTR_variant(MODIFIER||9|c.-9A>G|626|AXL|protein_coding|CODING|NM_001278599.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.664344(N),1.000(P),"0.4,0.4(T,T)",0.0000(T),0.07,-1.964564,4.11,4.11,-0.380000,1.068000,1.570000,0.003000,0.288000,0.435000,6.7452
synonymous_variant,HNRNPUL1,SILENT,NM_007040.4:p.Thr804Thr/c.2412T>C,acT/acC,LOW,COSM4131897(1),0.993011,1,rs12745,0.36(T),,,-1.0864(T),,chr19,41811730,41811730,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr804Thr/c.2412T>C|856|HNRNPUL1|protein_coding|CODING|NM_007040.4|14|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr704Thr/c.2112T>C|756|HNRNPUL1|protein_coding|CODING|NM_144732.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9765,0.9942,0.993,0.99,1.00,0.99,,,0.000(P),,0.0000(T),.,0.570684,4.67,-9.33,-1.164000,-3.301000,-3.175000,0.937000,0.001000,0.000000,5.8115
missense_variant,TGFB1,MISSENSE,NM_000660.5:p.Pro10Leu/c.29C>T,cCg/cTg,MODERATE,COSM3749514(8),0.545327,0.4454,,0.64(T),,,-0.9453(T),,chr19,41858921,41858921,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro10Leu/c.29C>T|390|TGFB1|protein_coding|CODING|NM_000660.5|1|1),downstream_gene_variant(MODIFIER||1401||175|B9D2|protein_coding|CODING|NM_030578.3||1)","K562:ZBTB7A,NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:TFIIIC-110,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,K562:Znf263,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K27ac,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Sin3Ak20",,RCV000013360.24|RCV000013361.1|RCV000032141.1,,0.5542,0.4942,0.6183,,,,,0.657121(N),0.000(P),1.73(T),0.0000(T),0.11,2.828179,3.88,1.45,0.462000,0.757000,0.753000,0.984000,1.000000,0.991000,6.0338
missense_variant,B9D2,MISSENSE,NM_030578.3:p.Ile11Met/c.33A>G,atA/atG,MODERATE,,0.649561,0.4464,rs2241714,0.11(T),0.005(B),1.725(L),-1.0298(T),,chr19,41869392,41869392,T,C,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile11Met/c.33A>G|175|B9D2|protein_coding|CODING|NM_030578.3|2|1),upstream_gene_variant(MODIFIER||479||133|TMEM91|protein_coding|CODING|NM_001098825.1||1)","NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H4K5ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:H3K4me2,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,IMR90:H3K18ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3",,,,0.6207,0.5461,0.675,0.72,0.83,0.67,,0.062693(N),0.000(P),-0.44(T),0.0000(T),0.036,1.538474,5.08,-1.13,-0.320000,-0.144000,-0.226000,0.829000,0.296000,0.258000,5.3714
synonymous_variant,TMEM91,SILENT,NM_001098821.1:p.Ala163Ala/c.489T>C,gcT/gcC,LOW,,0.618411,0.4306,rs12602,,,,,,chr19,41889748,41889748,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala163Ala/c.489T>C|172|TMEM91|protein_coding|CODING|NM_001098821.1|4|1),3_prime_UTR_variant(MODIFIER||223|c.*223T>C|139|TMEM91|protein_coding|CODING|NM_001042595.2|4|1),intron_variant(MODIFIER|||c.361-20T>C|133|TMEM91|protein_coding|CODING|NM_001098822.1|3|1),intron_variant(MODIFIER|||c.361-20T>C|133|TMEM91|protein_coding|CODING|NM_001098825.1|3|1),intron_variant(MODIFIER|||c.361-31T>C|127|TMEM91|protein_coding|CODING|NM_001098823.1|3|1),intron_variant(MODIFIER|||c.361-43T>C|123|TMEM91|protein_coding|CODING|NM_001098824.1|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5992,0.4784,0.5924,0.68,0.83,0.61,,,,,,,,,,,,,,,,
missense_variant,EXOSC5,MISSENSE,NM_020158.3:p.Thr5Met/c.14C>T,aCg/aTg,MODERATE,,0.614417,0.4315,rs10853751,0.41(T),0.0(B),0(N),-0.9967(T),,chr19,41903220,41903220,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr5Met/c.14C>T|235|EXOSC5|protein_coding|CODING|NM_020158.3|1|1),upstream_gene_variant(MODIFIER||474||445|BCKDHA|protein_coding|CODING|NM_000709.3||1),upstream_gene_variant(MODIFIER||474||444|BCKDHA|protein_coding|CODING|NM_001164783.1||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,HepG2:Gabp,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,HepG2:ELF1,HUVEC:Max,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:USF1,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HUVEC:H3K4me2,K562:E2F6,K562:Cjun,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,H1ESC:Nrsf,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Sin3Ak20,H1ESC:Sin3Ak20,HeLa-S3:E2F1,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.6002,0.4798,0.5875,0.67,0.81,0.60,,0.514486(N),1.000(P),1.49(T),0.0000(T),0.026,-0.783098,5.16,2.61,-0.378000,0.204000,-0.095000,0.002000,0.000000,0.000000,3.2455
synonymous_variant,BCKDHA,SILENT,NM_000709.3:p.Phe324Phe/c.972C>T,ttC/ttT,LOW,COSM3933055(1),0.616414,0.4325,rs284652,,,,,,chr19,41928652,41928652,C,T,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe324Phe/c.972C>T|445|BCKDHA|protein_coding|CODING|NM_000709.3|7|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe323Phe/c.969C>T|444|BCKDHA|protein_coding|CODING|NM_001164783.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000079266.3,,0.5992,0.4885,0.5924,0.68,0.81,0.61,,,,,,,,,,,,,,,,
synonymous_variant,BCKDHA,SILENT,NM_000709.3:p.Leu407Leu/c.1221A>G,ctA/ctG,LOW,,0.617013,0.4345,rs4674,,,,,,chr19,41930396,41930396,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu407Leu/c.1221A>G|445|BCKDHA|protein_coding|CODING|NM_000709.3|9|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu406Leu/c.1218A>G|444|BCKDHA|protein_coding|CODING|NM_001164783.1|9|1),downstream_gene_variant(MODIFIER||868||397|B3GNT8|protein_coding|CODING|NM_198540.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000079224.3,,0.6002,0.4885,0.5924,0.68,0.81,0.61,,,,,,,,,,,,,,,,
synonymous_variant,B3GNT8,SILENT,NM_198540.2:p.Ala200Ala/c.600C>A,gcC/gcA,LOW,COSM3756817(1),0.491014,0.4306,rs284660,,,,,,chr19,41932084,41932084,G,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala200Ala/c.600C>A|397|B3GNT8|protein_coding|CODING|NM_198540.2|3|1),downstream_gene_variant(MODIFIER||1174||445|BCKDHA|protein_coding|CODING|NM_000709.3||1),downstream_gene_variant(MODIFIER||1174||444|BCKDHA|protein_coding|CODING|NM_001164783.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5961,0.4467,0.5865,0.55,0.44,0.61,,,,,,,,,,,,,,,,
synonymous_variant,B3GNT8,SILENT,NM_198540.2:p.Val188Val/c.564G>A,gtG/gtA,LOW,,0.490815,0.4306,rs284661,,,,,,chr19,41932120,41932120,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val188Val/c.564G>A|397|B3GNT8|protein_coding|CODING|NM_198540.2|3|1),downstream_gene_variant(MODIFIER||1210||445|BCKDHA|protein_coding|CODING|NM_000709.3||1),downstream_gene_variant(MODIFIER||1210||444|BCKDHA|protein_coding|CODING|NM_001164783.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5961,0.4467,0.5895,0.55,0.44,0.61,,,,,,,,,,,,,,,,
missense_variant,B3GNT8,MISSENSE,NM_198540.2:p.Ser137Gly/c.409A>G,Agc/Ggc,MODERATE,COSM439593(1),0.621805,0.4335,rs284662,0.15(T),0.0(B),0(N),-1.0693(T),,chr19,41932275,41932275,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser137Gly/c.409A>G|397|B3GNT8|protein_coding|CODING|NM_198540.2|3|1),downstream_gene_variant(MODIFIER||1365||445|BCKDHA|protein_coding|CODING|NM_000709.3||1),downstream_gene_variant(MODIFIER||1365||444|BCKDHA|protein_coding|CODING|NM_001164783.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6043,0.4928,0.5974,0.69,0.82,0.62,,0.325356(N),1.000(P),1.32(T),0.0000(T),0.026,-0.101314,4.21,0.562,-0.355000,0.103000,-0.099000,0.530000,0.102000,0.006000,4.0178
synonymous_variant,B3GNT8,SILENT,NM_198540.2:p.Glu24Glu/c.72G>A,gaG/gaA,LOW,COSM3933057(1),0.617412,0.4266,rs284663,,,,,,chr19,41932612,41932612,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu24Glu/c.72G>A|397|B3GNT8|protein_coding|CODING|NM_198540.2|3|1),downstream_gene_variant(MODIFIER||1702||445|BCKDHA|protein_coding|CODING|NM_000709.3||1),downstream_gene_variant(MODIFIER||1702||444|BCKDHA|protein_coding|CODING|NM_001164783.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K4me2,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.5992,0.487,0.5934,0.68,0.82,0.61,,,,,,,,,,,,,,,,
missense_variant,CEACAM21,MISSENSE,NM_001098506.3:p.Thr121Asn/c.362C>A,aCc/aAc,MODERATE,,0.523562,0.5833,rs714106,0.05(D),"0.994,0.997(D,D)",3.865(H),-0.9221(T),,chr19,42083849,42083849,C,A,hom,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr121Asn/c.362C>A|293|CEACAM21|protein_coding|CODING|NM_001098506.3|2|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr121Asn/c.362C>A|292|CEACAM21|protein_coding|CODING|NM_033543.5|2|1),5_prime_UTR_variant(MODIFIER||1817|c.-106C>A|165|CEACAM21|protein_coding|CODING|NM_001288773.2|3|1),5_prime_UTR_variant(MODIFIER||1817|c.-106C>A|164|CEACAM21|protein_coding|CODING|NM_001290113.1|2|1)","HUVEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6697,0.7493,0.7256,0.56,0.22,0.73,,,0.233(P),"-0.31,-0.31(T,T)",0.0000(T),0.178,2.379437,1.84,1.84,0.123000,1.363000,0.697000,0.272000,0.279000,0.357000,7.3157
missense_variant,CEACAM21,MISSENSE,NM_001098506.3:p.Met198Val/c.592A>G,Atg/Gtg,MODERATE,,0.601038,0.5992,rs2302188,0.06(T),"0.0,0.001(B,B)",-0.52(N),-0.9782(T),,chr19,42085873,42085873,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met70Val/c.208A>G|165|CEACAM21|protein_coding|CODING|NM_001288773.2|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met70Val/c.208A>G|164|CEACAM21|protein_coding|CODING|NM_001290113.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met198Val/c.592A>G|293|CEACAM21|protein_coding|CODING|NM_001098506.3|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met198Val/c.592A>G|292|CEACAM21|protein_coding|CODING|NM_033543.5|3|1)","HUVEC:H3K27me3,CD4:H3K36me3,GM06990:H3K36me3",,,,0.6708,0.7824,0.7346,0.65,0.45,0.75,,,1.000(P),"1.24,1.24,1.24(T,T,T)",0.0000(T),0.065,0.157854,2.85,-5.3,-1.298000,-1.495000,0.253000,0.007000,0.000000,0.000000,5.4928
splice_acceptor_variant,CEACAM21,protein_coding,NM_001098506.3:c.883T>A,,HIGH,,0.646765,0.6042,rs3745936,,,,,CEACAM21:1.00(4);,chr19,42092815,42092815,T,A,hom,"splice_acceptor_variant(HIGH|||c.883T>A|293|CEACAM21|protein_coding|CODING|NM_001098506.3|7|1),splice_acceptor_variant(HIGH|||c.499T>A|165|CEACAM21|protein_coding|CODING|NM_001288773.2|8|1),splice_acceptor_variant(HIGH|||c.496T>A|164|CEACAM21|protein_coding|CODING|NM_001290113.1|7|1),splice_acceptor_variant(HIGH|||c.880T>A|292|CEACAM21|protein_coding|CODING|NM_033543.5|7|1),intron_variant(MODIFIER|||c.*1-2T>A|293|CEACAM21|protein_coding|CODING|NM_001098506.3|6|1),intron_variant(MODIFIER|||c.*1-2T>A|165|CEACAM21|protein_coding|CODING|NM_001288773.2|7|1),intron_variant(MODIFIER|||c.*1-2T>A|164|CEACAM21|protein_coding|CODING|NM_001290113.1|6|1),intron_variant(MODIFIER|||c.*1-2T>A|292|CEACAM21|protein_coding|CODING|NM_033543.5|6|1)",GM06990:H3K36me3,,,,0.6769,0.7853,0.7734,0.70,0.55,0.79,,,,,,,,,,,,,,,,
missense_variant,CEACAM4,MISSENSE,NM_001817.3:p.His29Asp/c.85C>G,Cac/Gac,MODERATE,COSM3756821(1),0.609625,0.8919,rs1126454,0.13(T),"0.0,0.0(B,B)",-0.22(N),-1.0969(T),,chr19,42132314,42132314,G,C,hom,missense_variant(MODERATE|MISSENSE|Cac/Gac|p.His29Asp/c.85C>G|244|CEACAM4|protein_coding|CODING|NM_001817.3|2|1),"GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6922,0.4669,0.5417,0.50,0.47,0.51,,,1.000(P),5.28(T),0.0000(T),0.074,-0.066967,1.76,0.701,-0.980000,-0.213000,-0.344000,0.075000,0.023000,0.010000,2.3678
missense_variant,CEACAM7,MISSENSE,NM_001291485.1:p.Phe120Ile/c.358T>A,Ttc/Atc,MODERATE,,0.593251,0.5109,rs8102488,0.42(T),"0.004,0.004(B,B)",1.7(L),-0.9606(T),,chr19,42190859,42190859,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe120Ile/c.358T>A|265|CEACAM7|protein_coding|CODING|NM_001291485.1|2|1),missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe120Ile/c.358T>A|265|CEACAM7|protein_coding|CODING|NM_006890.4|2|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.546,0.513,0.4543,0.57,0.78,0.46,,,1.000(P),"0.04,0.04,0.04(T,T,T)",0.0000(T),0.054,-0.662917,1.68,-3.36,-3.062000,-3.597000,-3.387000,0.000000,0.000000,0.000000,3.9709
synonymous_variant,CEACAM5,SILENT,NM_001291484.1:p.Gly70Gly/c.210T>C,ggT/ggC,LOW,,0.137181,0,rs10402825,,,,,,chr19,42213744,42213744,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly70Gly/c.210T>C|702|CEACAM5|protein_coding|CODING|NM_001291484.1|2|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly70Gly/c.210T>C|702|CEACAM5|protein_coding|CODING|NM_004363.4|2|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.0922,0.1958,0.21,0.30,0.16,,,1.000(P),,,.,1.548573,3.09,-6.19,-3.352000,-2.845000,-2.408000,0.000000,0.000000,0.000000,4.8066
missense_variant,CEACAM5,MISSENSE,NM_001291484.1:p.Ile80Val/c.238A>G,Ata/Gta,MODERATE,,0.163339,0,rs12971352,0.95(T),"0.07,0.005,0.016(B,B,B)",0.165(N),-0.9311(T),,chr19,42213772,42213772,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile80Val/c.238A>G|702|CEACAM5|protein_coding|CODING|NM_001291484.1|2|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile80Val/c.238A>G|702|CEACAM5|protein_coding|CODING|NM_004363.4|2|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.1037,0.1958,0.18,0.30,0.12,,,1.000(P),"-0.19,-0.19(T,T)",0.0000(T),0.039,-2.303796,2.56,-1.31,-2.226000,-0.113000,-0.284000,0.000000,0.002000,0.001000,4.8298
missense_variant,CEACAM5,MISSENSE,NM_001291484.1:p.Val83Ala/c.248T>C,gTa/gCa,MODERATE,,0.16234,0,rs28683503,0.11(T),"0.084,0.016,0.011(B,B,B)",2.035(M),-0.9794(T),,chr19,42213782,42213782,T,C,het,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val83Ala/c.248T>C|702|CEACAM5|protein_coding|CODING|NM_001291484.1|2|1),missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val83Ala/c.248T>C|702|CEACAM5|protein_coding|CODING|NM_004363.4|2|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.1037,0.1958,0.19,0.31,0.13,,,1.000(P),"-0.27,-0.27(T,T)",0.0000(T),0.066,-0.035887,2.56,-4.68,0.254000,-1.374000,-2.465000,0.003000,0.000000,0.000000,1.288
missense_variant,CEACAM5,MISSENSE,NM_001291484.1:p.Ile112Val/c.334A>G,Atc/Gtc,MODERATE,COSM3773876(1),0.129593,0,rs34155934,,,-2.66(N),-0.9974(T),,chr19,42213868,42213868,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile112Val/c.334A>G|702|CEACAM5|protein_coding|CODING|NM_001291484.1|2|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile112Val/c.334A>G|702|CEACAM5|protein_coding|CODING|NM_004363.4|2|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.0865,0.1958,0.18,0.25,0.15,,,1.000(P),,0.0000(T),.,-1.883991,3.09,-0.944,-0.769000,0.127000,-0.152000,0.011000,0.006000,0.000000,3.103
missense_variant,CEACAM5,MISSENSE,NM_001291484.1:p.Ile113Thr/c.338T>C,aTc/aCc,MODERATE,,0.129593,0,rs35091611,1(T),"0.013,0.0,0.0(B,B,B)",-3.95(N),-0.9789(T),,chr19,42213872,42213872,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile113Thr/c.338T>C|702|CEACAM5|protein_coding|CODING|NM_001291484.1|2|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile113Thr/c.338T>C|702|CEACAM5|protein_coding|CODING|NM_004363.4|2|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0225,0.0865,0.1958,0.17,0.23,0.14,,,1.000(P),"0.04,0.04(T,T)",0.0000(T),0.019,-2.111474,3.09,-6.19,-1.889000,-1.023000,-0.653000,0.004000,0.001000,0.000000,2.1955
missense_variant,CEACAM5,MISSENSE,NM_001291484.1:p.Lys398Glu/c.1192A>G,Aaa/Gaa,MODERATE,COSM4131911(1),0.897165,0.8274,rs7249230,0.25(T),0.002(B),0.16(N),-1.0092(T),,chr19,42221607,42221607,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys398Glu/c.1192A>G|702|CEACAM5|protein_coding|CODING|NM_001291484.1|5|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys398Glu/c.1192A>G|702|CEACAM5|protein_coding|CODING|NM_004363.4|5|1)","GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.9397,0.8876,0.7982,0.86,0.97,0.81,,,1.000(P),"-0.15,-0.15(T,T)",0.0000(T),0.024,-0.537845,2.45,1.35,-0.965000,-0.058000,-0.007000,0.000000,0.001000,0.003000,5.2388
missense_variant,CEACAM5,MISSENSE,NM_001291484.1:p.Gly678Arg/c.2032G>A,Gga/Aga,MODERATE,,0.00858626,0,rs9621,0.54(T),"0.022,0.019(B,B)",1.245(L),-1.0346(T),,chr19,42231159,42231159,G,A,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly678Arg/c.2032G>A|702|CEACAM5|protein_coding|CODING|NM_001291484.1|9|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly678Arg/c.2032G>A|702|CEACAM5|protein_coding|CODING|NM_004363.4|9|1)","GM06990:H3K27me3,HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.001,0.013,0.0328,0.03,0.01,0.04,,,1.000(N),"1.07,1.07(T,T)",0.0172(T),0.071,-0.784206,1.83,-0.664,0.411000,-0.087000,-1.186000,0.008000,0.000000,0.000000,3.0885
missense_variant,CEACAM6,MISSENSE,NM_002483.6:p.Gly239Val/c.716G>T,gGc/gTc,MODERATE,,0.549321,0.5625,rs11548735,0.25(T),0.0(B),-0.41(N),-1.0568(T),,chr19,42265889,42265889,G,T,het,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly239Val/c.716G>T|344|CEACAM6|protein_coding|CODING|NM_002483.6|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4182,0.536,0.4056,0.50,0.68,0.41,,,1.000(P),2.95(T),0.0000(T),0.02,-0.676735,1.72,-1.6,-2.494000,-1.295000,-0.235000,0.125000,0.002000,0.000000,4.1838
synonymous_variant,LYPD4,SILENT,NM_173506.6:p.Val76Val/c.228T>C,gtT/gtC,LOW,,0.605431,0.5208,rs2290695,,,,,,chr19,42342319,42342319,A,G,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val41Val/c.123T>C|211|LYPD4|protein_coding|CODING|NM_001291419.1|4|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val76Val/c.228T>C|246|LYPD4|protein_coding|CODING|NM_173506.6|4|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4387,0.5764,0.4722,0.60,0.83,0.48,,,,,,,,,,,,,,,,
synonymous_variant,DMRTC2,SILENT,NM_001040283.2:p.Gly284Gly/c.852T>C,ggT/ggC,LOW,,0.608427,0.5258,rs2305809,,,,,,chr19,42354629,42354629,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly284Gly/c.852T>C|367|DMRTC2|protein_coding|CODING|NM_001040283.2|8|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4458,0.572,0.4702,0.60,0.83,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ATP1A3,SILENT,NM_001256214.1:p.Thr235Thr/c.705T>G,acT/acG,LOW,COSM4131915(2),0.901558,0.876,rs2217342,,,,,,chr19,42489516,42489516,A,C,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr233Thr/c.699T>G|1024|ATP1A3|protein_coding|CODING|NM_001256213.1|7|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr235Thr/c.705T>G|1026|ATP1A3|protein_coding|CODING|NM_001256214.1|7|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr222Thr/c.666T>G|1013|ATP1A3|protein_coding|CODING|NM_152296.4|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7986,0.889,0.9125,0.93,0.98,0.90,,,,,,,,,,,,,,,,
synonymous_variant,GSK3A,SILENT,NM_019884.2:p.Leu440Leu/c.1320T>C,ctT/ctC,LOW,,1,1,rs851609,,,,,,chr19,42736267,42736267,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu440Leu/c.1320T>C|483|GSK3A|protein_coding|CODING|NM_019884.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CIC,SILENT,NM_015125.3:p.Ile1511Ile/c.4533C>T,atC/atT,LOW,COSM3756833(1),0.119808,0,rs1052023,,,,,,chr19,42799049,42799049,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile1511Ile/c.4533C>T|1608|CIC|protein_coding|CODING|NM_015125.3|20|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0593,0.1945,0.3907,0.28,0.08,0.38,,,,,,,,,,,,,,,,
missense_variant,PSG3,MISSENSE,NM_021016.3:p.Leu18Val/c.52C>G,Ctc/Gtc,MODERATE,COSM3756852(1),0.240815,0.0585,rs11880551,0.09(T),0.102(B),0.97(L),-0.9349(T),,chr19,43244485,43244485,G,C,het,missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu18Val/c.52C>G|428|PSG3|protein_coding|CODING|NM_021016.3|1|1),"H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.1237,0.1484,0.0795,0.25,0.55,0.08,,,1.000(P),1.89(T),0.0000(T),0.054,0.002732,1.21,-1.99,0.121000,-0.350000,-0.178000,0.090000,0.005000,0.006000,2.6346
synonymous_variant,PSG8,SILENT,NM_182707.2:p.Ala94Ala/c.282A>C,gcA/gcC,LOW,COSM3756856(1),0.102037,0.0188,rs7256456,,,,,,chr19,43268216,43268216,T,G,het,"synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala94Ala/c.282A>C|419|PSG8|protein_coding|CODING|NM_001130167.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala94Ala/c.282A>C|426|PSG8|protein_coding|CODING|NM_182707.2|2|1),intron_variant(MODIFIER|||c.64+1454A>C|297|PSG8|protein_coding|CODING|NM_001130168.1|1|1)",HepG2:H3K27me3,,,,0.0992,0.1081,0.0666,0.09,0.16,0.05,,,,,,,,,,,,,,,,
missense_variant,PSG8,MISSENSE,NM_182707.2:p.Ile88Arg/c.263T>G,aTa/aGa,MODERATE,COSM3756858(1),0.175919,0.0238,rs75257969,0.85(T),"0.005,0.002,0.006,0.003,0.005(B,B,B,B,B)",-0.025(N),-1.0363(T),,chr19,43268235,43268235,A,C,het,"missense_variant(MODERATE|MISSENSE|aTa/aGa|p.Ile88Arg/c.263T>G|419|PSG8|protein_coding|CODING|NM_001130167.1|2|1),missense_variant(MODERATE|MISSENSE|aTa/aGa|p.Ile88Arg/c.263T>G|426|PSG8|protein_coding|CODING|NM_182707.2|2|1),intron_variant(MODIFIER|||c.64+1435T>G|297|PSG8|protein_coding|CODING|NM_001130168.1|1|1)",HepG2:H3K27me3,,,,0.1063,0.134,0.0726,0.17,0.38,0.07,,,1.000(P),"-0.05,-0.05,-0.05(T,T,T)",0.0000(T),0.079,-2.776694,1.35,-2.7,-3.322000,-5.032000,-3.116000,0.001000,0.000000,0.000000,1.0782
missense_variant,PSG8,MISSENSE,NM_182707.2:p.Arg12His/c.35G>A,cGc/cAc,MODERATE,COSM3756861(1),0.356629,0.0903,rs7260508,0.47(T),"0.001,0.003,0.001(B,B,B)",-0.9(N),-0.9809(T),,chr19,43269699,43269699,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg12His/c.35G>A|419|PSG8|protein_coding|CODING|NM_001130167.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg12His/c.35G>A|297|PSG8|protein_coding|CODING|NM_001130168.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg12His/c.35G>A|426|PSG8|protein_coding|CODING|NM_182707.2|1|1)",,,,,0.2342,0.2709,0.3091,0.43,0.65,0.30,,,1.000(P),"2.18,1.91,2.19(T,T,T)",0.0000(T),0.045,-0.240996,1.35,-2.7,-2.741000,-1.864000,-2.718000,0.006000,0.000000,0.000000,7.3607
synonymous_variant,PSG8,SILENT,NM_182707.2:p.Thr10Thr/c.30A>G,acA/acG,LOW,COSM3756863(1),0.366214,0.0933,rs62112127,,,,,,chr19,43269704,43269704,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr10Thr/c.30A>G|419|PSG8|protein_coding|CODING|NM_001130167.1|1|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr10Thr/c.30A>G|297|PSG8|protein_coding|CODING|NM_001130168.1|1|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr10Thr/c.30A>G|426|PSG8|protein_coding|CODING|NM_182707.2|1|1)",,,,,0.2587,0.2781,0.3241,0.37,0.58,0.25,,,,,,,,,,,,,,,,
missense_variant,PSG8,MISSENSE,NM_182707.2:p.Thr10Ile/c.29C>T,aCa/aTa,MODERATE,COSM3756865(1),0.356829,0.0913,rs7245423,0.05(D),"0.81,0.521,0.558(P,P,P)",1.7(L),-0.9186(T),,chr19,43269705,43269705,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr10Ile/c.29C>T|419|PSG8|protein_coding|CODING|NM_001130167.1|1|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr10Ile/c.29C>T|297|PSG8|protein_coding|CODING|NM_001130168.1|1|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr10Ile/c.29C>T|426|PSG8|protein_coding|CODING|NM_182707.2|1|1)",,,,,0.2342,0.2709,0.3091,0.35,0.57,0.23,,,1.000(P),"2.18,1.78,3.3,2.19(T,T,T,T)",0.0000(T),0.089,0.268926,1.35,-2.7,-1.139000,-2.180000,-0.768000,0.002000,0.000000,0.000000,1.4681
missense_variant,PSG7,MISSENSE,NM_002783.2:p.His65Tyr/c.193C>T,Cac/Tac,MODERATE,,1,1,rs7245978,,,,,,chr19,43439793,43439793,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His65Tyr/c.193C>T|419|PSG7|protein_coding|CODING|NM_002783.2|2|1),5_prime_UTR_variant(MODIFIER||6034|c.-351C>T|238|PSG7|protein_coding|CODING|NM_001290042.1|2|1),intron_variant(MODIFIER|||c.64+1372C>T|297|PSG7|protein_coding|CODING|NM_001206650.1|1|1)",HepG2:H3K27me3,,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,PSG11,SILENT,NM_002785.2:p.Gln290Gln/c.870G>A,caG/caA,LOW,,0.647564,0.9871,rs11083680,,,,,,chr19,43519362,43519362,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln168Gln/c.504G>A|213|PSG11|protein_coding|CODING|NM_001113410.1|3|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln290Gln/c.870G>A|335|PSG11|protein_coding|CODING|NM_002785.2|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln168Gln/c.504G>A|213|PSG11|protein_coding|CODING|NM_203287.1|3|1)",,,,,0.5706,0.4986,0.4751,0.52,0.66,0.45,,,,,,,,,,,,,,,,
missense_variant,PSG11,MISSENSE,NM_002785.2:p.Asn264Asp/c.790A>G,Aac/Gac,MODERATE,COSM4131973(1),0.85643,0.999,rs10414166,1(T),"0.001,0.0(B,B)",-0.65(N),-1.0065(T),,chr19,43519442,43519442,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn142Asp/c.424A>G|213|PSG11|protein_coding|CODING|NM_001113410.1|3|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn264Asp/c.790A>G|335|PSG11|protein_coding|CODING|NM_002785.2|4|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn142Asp/c.424A>G|213|PSG11|protein_coding|CODING|NM_203287.1|3|1)",,,,,0.7935,0.7594,0.6789,0.76,0.93,0.68,,,1.000(P),"2.82,2.82,2.82,2.82(T,T,T,T)",0.0000(T),0.013,-1.037745,1.3,-2.28,-1.160000,-1.524000,-0.180000,0.012000,0.001000,0.003000,5.6087
synonymous_variant,PSG2,SILENT,NM_031246.3:p.Thr314Thr/c.942A>G,acA/acG,LOW,COSM439706(2),0.0964457,0.0645,rs3746096,,,,,,chr19,43575874,43575874,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr314Thr/c.942A>G|335|PSG2|protein_coding|CODING|NM_031246.3|4|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1718,0.0951,0.0934,0.09,0.06,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PSG5,SILENT,NM_001130014.1:p.Tyr120Tyr/c.360C>T,taC/taT,LOW,COSM148656(3),0.324681,0.5952,rs2302112,,,,,,chr19,43689004,43689004,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr120Tyr/c.360C>T|335|PSG5|protein_coding|CODING|NM_001130014.1|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr120Tyr/c.360C>T|335|PSG5|protein_coding|CODING|NM_002781.3|2|1)","IMR90:H2BK120ac,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4ac,IMR90:H4K91ac,NHEK:H3K36me3,IMR90:H3K18ac,IMR90:H2BK20ac",,,,0.4683,0.2536,0.1541,0.18,0.19,0.17,,,,,,,,,,,,,,,,
missense_variant,PSG5,MISSENSE,NM_001130014.1:p.Leu18Val/c.52C>G,Ctc/Gtc,MODERATE,COSM1564387(1),0.730631,0.9762,rs8107936,0.09(T),"0.424,0.35(B,B)",1.03(L),-1.1130(T),,chr19,43690506,43690506,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu18Val/c.52C>G|335|PSG5|protein_coding|CODING|NM_001130014.1|1|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu18Val/c.52C>G|335|PSG5|protein_coding|CODING|NM_002781.3|1|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,IMR90:H4K91ac",,,,0.6861,0.5749,0.6123,0.64,0.72,0.60,,,1.000(P),"5.01,5.01,4.7,5.01,4.99(T,T,T,T,T)",0.0000(T),0.087,-0.070693,1.41,0.325,0.184000,0.166000,0.008000,0.030000,0.003000,0.117000,3.7117
missense_variant,PSG4,MISSENSE,NM_002780.4:p.Leu75Val/c.223C>G,Ctc/Gtc,MODERATE,COSM3756901(1),0.172524,0.005,rs3170216,0.61(T),"0.601,0.379,0.056(P,B,B)",1.955(M),-1.0720(T),,chr19,43708245,43708245,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu75Val/c.223C>G|326|PSG4|protein_coding|CODING|NM_001276495.1|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu75Val/c.223C>G|419|PSG4|protein_coding|CODING|NM_002780.4|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu75Val/c.223C>G|326|PSG4|protein_coding|CODING|NM_213633.2|2|1)","IMR90:H3K4ac,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0869,0.1643,0.2893,0.28,0.29,0.28,,,1.000(P),"-0.11,-0.11,-0.11,-0.11(T,T,T,T)",0.0000(T),0.285,-1.397258,1.65,-3.31,0.173000,-2.341000,-3.219000,0.010000,0.000000,0.000000,2.9373
missense_variant,CD177,MISSENSE,NM_020406.3:p.Ala3Pro/c.7G>C,Gcg/Ccg,MODERATE,COSM3773880(1),0.459665,0.7173,rs45441892,1(T),0.0(B),-2.175(N),-0.9707(T),,chr19,43857873,43857873,G,C,het,missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala3Pro/c.7G>C|437|CD177|protein_coding|CODING|NM_020406.3|1|1),"H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4918,0.4726,0.3519,0.33,0.30,0.34,,,1.000(P),"3.07,2.49,2.49(T,T,T)",0.0000(T),0.021,-1.197988,3.42,-3.7,-1.086000,-0.973000,-1.873000,0.001000,0.000000,0.000000,4.7527
missense_variant,CD177,MISSENSE,NM_020406.3:p.Leu251Ile/c.751C>A,Cta/Ata,MODERATE,,0.440695,0.4196,rs10425835,,,,,,chr19,43864548,43864548,C,A,hom,missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu251Ile/c.751C>A|437|CD177|protein_coding|CODING|NM_020406.3|6|1),"GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2843,0.4841,0.3986,0.43,0.52,0.39,,,,,,,,,,,,,,,,
synonymous_variant,TEX101,SILENT,NM_031451.4:p.Pro159Pro/c.477A>G,ccA/ccG,LOW,COSM3756904(1),0.28754,0.6091,rs3816438,,,,,,chr19,43922061,43922061,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro141Pro/c.423A>G|249|TEX101|protein_coding|CODING|NM_001130011.1|5|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro159Pro/c.477A>G|267|TEX101|protein_coding|CODING|NM_031451.4|8|1)","NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3609,0.2839,0.2366,0.17,0.06,0.23,,,,,,,,,,,,,,,,
synonymous_variant,PHLDB3,SILENT,NM_198850.3:p.Thr632Thr/c.1896C>A,acC/acA,LOW,,0.559105,0.6944,rs1055099,,,,,,chr19,43979589,43979589,G,T,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr632Thr/c.1896C>A|640|PHLDB3|protein_coding|CODING|NM_198850.3|16|1),"H1ESC:PolII,K562:Max,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,K562:PolII,H1ESC:TAF1,K562:H3K27ac,HeLa-S3:Max,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me2,H1ESC:SP1,IMR90:DNase1,H1ESC:DNase1,GM12878:Yy1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,H1ESC:Egr1,K562:E2F6,HeLa-S3:PolII,HeLa-S3:Ap2alpha,K562:Egr1,K562:Yy1,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,CD4:PolII,NHEK:H3K4me2,K562:PU1,HUVEC:H3K27ac,HMEC:DNase1,GM12878:DNase1,K562:HEY1,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:H2AZ,K562:DNase1,GM12878:H2AZ,K562:E2F4",,,,0.5041,0.5086,0.4165,0.46,0.55,0.41,,,,,,,,,,,,,,,,
synonymous_variant,PHLDB3,SILENT,NM_198850.3:p.Pro497Pro/c.1491A>G,ccA/ccG,LOW,COSM3766363(3),0.762181,0.7659,rs1133929,,,,,,chr19,43983740,43983740,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro497Pro/c.1491A>G|640|PHLDB3|protein_coding|CODING|NM_198850.3|14|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7229,0.683,0.6551,0.86,0.93,0.82,,,,,,,,,,,,,,,,
synonymous_variant,ETHE1,SILENT,NM_014297.3:p.Ala2Ala/c.6G>A,gcG/gcA,LOW,COSM3749515(8),0.152356,0.131,rs3810381,,,,,,chr19,44031324,44031324,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2Ala/c.6G>A|254|ETHE1|protein_coding|CODING|NM_014297.3|1|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1401,0.085,0.1998,0.15,0.14,0.15,,,,,,,,,,,,,,,,
synonymous_variant,XRCC1,SILENT,NM_006297.2:p.Gln632Gln/c.1896A>G,caA/caG,LOW,COSM3756905(2),0.710663,0.8849,rs3547,,,,,,chr19,44047550,44047550,T,C,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln632Gln/c.1896A>G|633|XRCC1|protein_coding|CODING|NM_006297.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6483,0.7853,0.5934,0.61,0.65,0.58,,,,,,,,,,,,,,,,
missense_variant,XRCC1,MISSENSE,NM_006297.2:p.Asn576Tyr/c.1726A>T,Aat/Tat,MODERATE,,1,1,rs2682557,1(T),"0.0,0.0(B,B)",-1.955(N),-0.9438(T),,chr19,44047826,44047826,T,A,hom,missense_variant(MODERATE|MISSENSE|Aat/Tat|p.Asn576Tyr/c.1726A>T|633|XRCC1|protein_coding|CODING|NM_006297.2|16|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.004337(N),0.998(P),"-1.25,-1.25(T,T)",0.0000(T),0.286,-0.172805,5.05,5.05,-0.385000,0.903000,5.779000,0.695000,1.000000,1.000000,8.5194
missense_variant,XRCC1,MISSENSE,NM_006297.2:p.Gln399Arg/c.1196A>G,cAg/cGg,MODERATE,COSM3756906(1),0.739617,0.7649,rs25487,1(T),0.0(B),,-0.9763(T),,chr19,44055726,44055726,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln399Arg/c.1196A>G|633|XRCC1|protein_coding|CODING|NM_006297.2|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6564,0.6873,0.6342,0.71,0.84,0.64,,0.000056(N),0.999(P),"2.81,2.85(T,T)",0.0000(T),0.033,-0.567604,5.16,4.13,-0.119000,0.842000,1.854000,0.398000,0.994000,1.000000,7.7315
synonymous_variant,XRCC1,SILENT,NM_006297.2:p.Pro206Pro/c.618A>G,ccA/ccG,LOW,COSM3756907(1),0.321286,0.1161,rs915927,,,,,,chr19,44057227,44057227,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro206Pro/c.618A>G|633|XRCC1|protein_coding|CODING|NM_006297.2|7|1),"H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3681,0.255,0.4175,0.42,0.40,0.43,,,,,,,,,,,,,,,,
missense_variant,PINLYP,MISSENSE,NM_001193621.1:p.His6Arg/c.17A>G,cAc/cGc,MODERATE,,0.824281,0.88,rs2682585,1(T),,,-0.9608(T),,chr19,44081288,44081288,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His6Arg/c.17A>G|228|PINLYP|protein_coding|CODING|NM_001193621.1|2|1),upstream_gene_variant(MODIFIER||1558||633|XRCC1|protein_coding|CODING|NM_006297.2||1)","CD4:H2BK20ac,NHEK:H3K4me2",,,,0.774,0.9078,0.7863,,,,,,,,0.0000(T),0.028,-0.913195,4.01,0.73,-0.124000,0.037000,0.746000,0.797000,0.994000,1.000000,7.3199
synonymous_variant,PINLYP,SILENT,NM_001193621.1:p.His64His/c.192T>C,caT/caC,LOW,,0.271565,0.2411,rs12608635,,,,,,chr19,44082791,44082791,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His64His/c.192T>C|228|PINLYP|protein_coding|CODING|NM_001193621.1|3|1),upstream_gene_variant(MODIFIER||1905||116|PINLYP|protein_coding|CODING|NM_001193622.1||1)",,,,,0.3436,0.3112,0.3618,,,,,,,,,,,,,,,,,,,
missense_variant,IRGQ,MISSENSE,NM_001007561.2:p.Gly549Asp/c.1646G>A,gGc/gAc,MODERATE,,,,,0.61(T),0.958(D),1.39(L),-0.8416(T),,chr19,44096404,44096404,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly549Asp/c.1646G>A|623|IRGQ|protein_coding|CODING|NM_001007561.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.004390(N),0.541(D),0.93(T),0.1529(T),0.282,2.549931,4.06,2.98,0.655000,1.223000,3.035000,0.212000,0.653000,0.835000,11.8314
missense_variant,SRRM5,MISSENSE,NM_001145641.1:p.Lys228Arg/c.683A>G,aAg/aGg,MODERATE,COSM3756910(1),0.236022,0.1508,rs13343696,0.84(T),0.026(B),0.55(N),-0.9858(T),,chr19,44116956,44116956,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys228Arg/c.683A>G|715|SRRM5|protein_coding|CODING|NM_001145641.1|1|1),intron_variant(MODIFIER|||c.76+1425T>C|188|ZNF428|protein_coding|CODING|NM_182498.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3078,0.1628,0.2565,0.26,0.23,0.27,,,1.000(P),,0.0000(T),0.037,0.946048,4.85,0.142,0.533000,-0.155000,0.028000,0.003000,0.000000,0.000000,4.3778
missense_variant,SRRM5,MISSENSE,NM_001145641.1:p.Asp640Asn/c.1918G>A,Gac/Aac,MODERATE,COSM3756911(1),0.235423,0.1498,rs34163641,0.14(T),0.013(B),0(N),-0.9686(T),,chr19,44118191,44118191,G,A,het,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp640Asn/c.1918G>A|715|SRRM5|protein_coding|CODING|NM_001145641.1|1|1),intron_variant(MODIFIER|||c.76+190C>T|188|ZNF428|protein_coding|CODING|NM_182498.3|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3078,0.1628,0.2565,0.25,0.23,0.27,,,1.000(P),,0.0000(T),0.008,1.312032,4.28,-1.9,-0.258000,-0.256000,-0.560000,0.001000,0.000000,0.000000,5.2613
missense_variant,PLAUR,MISSENSE,NM_002659.3:p.Leu317Pro/c.950T>C,cTc/cCc,MODERATE,,0.0684904,0,rs4760,0.06(T),"0.912,0.84(D,P)",1.735(L),-1.0614(T),,chr19,44153100,44153100,A,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu268Pro/c.803T>C|286|PLAUR|protein_coding|CODING|NM_001301037.1|6|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu272Pro/c.815T>C|290|PLAUR|protein_coding|CODING|NM_001005377.2|6|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu317Pro/c.950T>C|335|PLAUR|protein_coding|CODING|NM_002659.3|7|1),intron_variant(MODIFIER|||c.755-2400T>C|281|PLAUR|protein_coding|CODING|NM_001005376.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.1339,0.0821,0.1491,0.11,0.03,0.15,,0.675276(N),0.920(P),"2.62,2.58(T,T)",0.0003(T),0.301,2.637424,3.94,2.93,0.260000,0.881000,2.117000,0.262000,0.117000,0.632000,5.7743
missense_variant,LYPD5,MISSENSE,NM_001031749.2:p.Asn167Ser/c.500A>G,aAt/aGt,MODERATE,COSM1394320(4),0.445288,0.1498,rs349053,0.07(T),0.066(B),0.895(L),-0.9277(T),,chr19,44302624,44302624,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn167Ser/c.500A>G|251|LYPD5|protein_coding|CODING|NM_001031749.2|4|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn124Ser/c.371A>G|208|LYPD5|protein_coding|CODING|NM_001288763.1|3|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn124Ser/c.371A>G|208|LYPD5|protein_coding|CODING|NM_182573.2|4|1)","GM06990:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,CD4:H3K4me1,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.6667,0.3199,0.4791,0.51,0.55,0.49,,0.338699(N),0.987(P),"-0.38,-0.38(T,T)",0.0000(T),0.013,2.383557,4.25,2.15,0.459000,0.212000,0.898000,0.980000,0.996000,0.984000,5.9599
missense_variant,LYPD5,MISSENSE,NM_001031749.2:p.Ala90Pro/c.268G>C,Gcg/Ccg,MODERATE,COSM1129805(2),0.621406,0.5437,rs11547806,0.45(T),0.001(B),0(N),-0.9025(T),,chr19,44303066,44303066,C,G,het,"missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala90Pro/c.268G>C|251|LYPD5|protein_coding|CODING|NM_001031749.2|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala47Pro/c.139G>C|208|LYPD5|protein_coding|CODING|NM_001288763.1|2|1),missense_variant(MODERATE|MISSENSE|Gcg/Ccg|p.Ala47Pro/c.139G>C|208|LYPD5|protein_coding|CODING|NM_182573.2|3|1)","CD4:H3K9me1,NHEK:H3K9ac,CD4:H2AZ,CD4:H3K18ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,K562:E2F6,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7986,0.634,0.5765,0.59,0.59,0.58,,0.047340(N),1.000(P),"3.22,-4.96(T,D)",0.0000(T),0.022,1.169584,3.3,-4.2,-1.579000,-0.792000,-0.157000,0.002000,0.000000,0.000000,2.7515
synonymous_variant,LYPD5,SILENT,NM_001031749.2:p.Ala17Ala/c.51G>A,gcG/gcA,LOW,COSM3756912(2),0.214457,0.1101,rs11879355,,,,,,chr19,44306482,44306482,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala17Ala/c.51G>A|251|LYPD5|protein_coding|CODING|NM_001031749.2|1|1),intron_variant(MODIFIER|||c.-65-2496G>A|208|LYPD5|protein_coding|CODING|NM_182573.2|1|1)","IMR90:H3K27me3,H1ESC:Nrsf,K562:Nrsf",,,,0.1534,0.2507,0.3956,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF283,MISSENSE,NM_181845.1:p.Thr314Ile/c.941C>T,aCt/aTt,MODERATE,COSM4132005(1),0.802915,0.5982,rs2195980,0.08(T),0.002(B),1.78(L),-1.0632(T),,chr19,44351694,44351694,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr175Ile/c.524C>T|540|ZNF283|protein_coding|CODING|NM_001297752.1|6|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr314Ile/c.941C>T|679|ZNF283|protein_coding|CODING|NM_181845.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8476,0.6513,0.8638,0.89,0.95,0.86,,,0.000(P),1.78(T),0.0000(T),0.071,1.140523,3.0,1.97,-0.360000,0.380000,0.064000,0.790000,1.000000,0.087000,4.9103
synonymous_variant,ZNF283,SILENT,NM_181845.1:p.Gln361Gln/c.1083G>A,caG/caA,LOW,COSM4000776(1),0.682308,0.374,rs957569,,,,,,chr19,44351836,44351836,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln222Gln/c.666G>A|540|ZNF283|protein_coding|CODING|NM_001297752.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln361Gln/c.1083G>A|679|ZNF283|protein_coding|CODING|NM_181845.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7843,0.536,0.7684,0.79,0.84,0.76,,,,,,,,,,,,,,,,
missense_variant,ZNF283,MISSENSE,NM_181845.1:p.Arg629His/c.1886G>A,cGt/cAt,MODERATE,COSM3756915(1),0.14976,0.0744,rs1061768,0(D),0.128(B),0.11(N),-0.9435(T),,chr19,44352639,44352639,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg490His/c.1469G>A|540|ZNF283|protein_coding|CODING|NM_001297752.1|6|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg629His/c.1886G>A|679|ZNF283|protein_coding|CODING|NM_181845.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1564,0.1787,0.2227,0.18,0.14,0.21,,,0.000(P),2.48(T),0.0000(T),0.053,1.805208,2.61,2.61,0.563000,1.440000,3.677000,0.459000,0.234000,0.986000,12.3634
missense_variant,ZNF283,MISSENSE,NM_181845.1:p.Cys638Arg/c.1912T>C,Tgt/Cgt,MODERATE,COSM1394329(2),0.682308,0.374,rs2356437,0.78(T),0.0(B),-0.395(N),-1.0460(T),,chr19,44352665,44352665,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys499Arg/c.1495T>C|540|ZNF283|protein_coding|CODING|NM_001297752.1|6|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys638Arg/c.1912T>C|679|ZNF283|protein_coding|CODING|NM_181845.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7843,0.536,0.7684,0.77,0.83,0.75,,,1.000(P),3.28(T),0.0000(T),0.007,-0.327973,2.6,-1.72,-0.226000,-0.926000,-4.778000,0.265000,0.000000,0.000000,3.364
missense_variant,ZNF404,MISSENSE,NM_001033719.2:p.Gly334Ser/c.1000G>A,Ggt/Agt,MODERATE,,0.998602,0.994,rs239942,1(T),,,-0.9555(T),,chr19,44377357,44377357,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly334Ser/c.1000G>A|549|ZNF404|protein_coding|CODING|NM_001033719.2|2|1|WARNING_TRANSCRIPT_NO_START_CODON),"HSMM:H3K36me3,K562:ZNF274,CD4:H4K20me3",,,,1,0.9986,1,,,,,,1.000(P),1.32(T),0.0000(T),0.327,-2.711938,2.01,2.01,-0.773000,0.223000,-0.029000,0.075000,0.962000,0.002000,2.0938
missense_variant,ZNF404,MISSENSE,NM_001033719.2:p.His230Tyr/c.688C>T,Cat/Tat,MODERATE,,0.389976,0.5536,rs12977303,0(D),0.999(D),3.99(H),-1.1084(T),,chr19,44377669,44377669,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His230Tyr/c.688C>T|549|ZNF404|protein_coding|CODING|NM_001033719.2|2|1|WARNING_TRANSCRIPT_NO_START_CODON),"HSMM:H3K36me3,CD4:H3K9me3,CD4:H4K20me3",,,,0.3855,0.5692,0.507,0.38,0.14,0.49,,,0.867(P),-2.17(D),0.0000(T),0.476,2.070859,2.56,2.56,0.404000,1.444000,5.111000,0.212000,0.981000,1.000000,12.2572
synonymous_variant,ZNF45,SILENT,NM_003425.3:p.Phe671Phe/c.2013T>C,ttT/ttC,LOW,COSM1179784(1),0.541534,0.8046,rs417699,,,,,,chr19,44417575,44417575,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe671Phe/c.2013T>C|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4223,0.6585,0.5149,0.47,0.40,0.50,,,,,,,,,,,,,,,,
missense_variant,ZNF45,MISSENSE,NM_003425.3:p.Arg504Lys/c.1511G>A,aGg/aAg,MODERATE,,0.52516,0.7996,rs407731,0.04(D),,-0.765(N),-1.0832(T),,chr19,44418077,44418077,C,T,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg504Lys/c.1511G>A|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4223,0.6484,0.5169,0.46,0.36,0.51,,,1.000(P),,0.0000(T),.,0.220623,3.61,2.56,-0.556000,0.096000,0.794000,0.974000,0.997000,0.000000,5.9628
synonymous_variant,ZNF45,SILENT,NM_003425.3:p.Pro415Pro/c.1245G>A,ccG/ccA,LOW,COSM1394342(1),0.52496,0.7996,rs406968,,,,,,chr19,44418343,44418343,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro415Pro/c.1245G>A|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4213,0.647,0.5169,0.46,0.36,0.51,,,,,,,,,,,,,,,,
synonymous_variant,ZNF45,SILENT,NM_003425.3:p.Asn348Asn/c.1044T>C,aaT/aaC,LOW,,0.525559,0.7996,rs386591923,,,,,,chr19,44418544,44418544,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn348Asn/c.1044T>C|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4223,0.6499,0.5169,0.46,0.36,0.51,,,,,,,,,,,,,,,,
missense_variant,ZNF45,MISSENSE,NM_003425.3:p.Pro303Arg/c.908C>G,cCa/cGa,MODERATE,COSM4132008(1),0.414337,0.5486,rs388685,0.01(D),0.999(D),2.375(M),-0.8931(T),,chr19,44418680,44418680,G,C,het,missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro303Arg/c.908C>G|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.5764,0.5119,0.41,0.23,0.50,,0.002777(N),0.000(P),2.29(T),0.0000(T),0.195,1.860140,3.39,3.39,0.462000,1.915000,2.850000,0.125000,0.248000,0.999000,14.0503
missense_variant,ZNF45,MISSENSE,NM_003425.3:p.Thr299Ala/c.895A>G,Act/Gct,MODERATE,COSM4132009(1),0.525359,0.7996,rs386588541,0.07(T),0.002(B),1.49(L),-0.9031(T),,chr19,44418693,44418693,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr299Ala/c.895A>G|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4223,0.6499,0.5169,0.46,0.36,0.51,,0.027547(N),1.000(P),1.73(T),0.0000(T),0.015,-0.383998,3.07,-2.16,-2.985000,-1.254000,-0.211000,0.004000,0.000000,0.001000,6.2967
synonymous_variant,ZNF45,SILENT,NM_003425.3:p.Thr271Thr/c.813G>A,acG/acA,LOW,,0.0145767,0,rs61731635,,,,,,chr19,44418775,44418775,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr271Thr/c.813G>A|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0143,0.0231,0.0417,0.02,0.01,0.03,,,,,,,,,,,,,,,,
missense_variant,ZNF45,MISSENSE,NM_003425.3:p.Arg255Lys/c.764G>A,aGg/aAg,MODERATE,COSM1178459(1),0.414337,0.5486,rs386590100,1(T),0.0(B),-0.06(N),-0.9362(T),,chr19,44418824,44418824,C,T,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg255Lys/c.764G>A|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3855,0.5764,0.5119,0.41,0.23,0.50,,0.022776(N),0.969(P),3.01(T),0.0000(T),0.047,0.338167,3.51,0.479,0.462000,0.402000,-0.022000,0.426000,0.367000,0.705000,5.5663
synonymous_variant,ZNF45,SILENT,NM_003425.3:p.His186His/c.558T>C,caT/caC,LOW,,0.99401,1,rs420242,,,,,,chr19,44419030,44419030,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His186His/c.558T>C|682|ZNF45|protein_coding|CODING|NM_003425.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9986,1,0.99,0.98,1.00,,,,,,,,,,,,,,,,
missense_variant,ZNF221,MISSENSE,NM_001297588.1:p.Phe179Ile/c.535T>A,Ttc/Atc,MODERATE,COSM3724266(1),0.94369,1,rs454301,0.04(D),0.116(B),0.69(N),-0.9891(T),,chr19,44470189,44470189,T,A,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe179Ile/c.535T>A|617|ZNF221|protein_coding|CODING|NM_001297588.1|5|1),missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe179Ile/c.535T>A|617|ZNF221|protein_coding|CODING|NM_001297589.1|5|1),missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe179Ile/c.535T>A|617|ZNF221|protein_coding|CODING|NM_013359.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.9928,0.9769,1,0.94,0.82,1.00,,,1.000(P),1.06(T),0.0000(T),0.124,1.786405,2.59,1.55,0.379000,0.235000,2.680000,0.023000,0.001000,0.496000,6.5215
missense_variant,ZNF221,MISSENSE,NM_001297588.1:p.Cys256Arg/c.766T>C,Tgt/Cgt,MODERATE,,0.845048,0.9841,rs439676,0.02(D),1.0(D),3.71(H),-0.9195(T),,chr19,44470420,44470420,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys256Arg/c.766T>C|617|ZNF221|protein_coding|CODING|NM_001297588.1|5|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys256Arg/c.766T>C|617|ZNF221|protein_coding|CODING|NM_001297589.1|5|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys256Arg/c.766T>C|617|ZNF221|protein_coding|CODING|NM_013359.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.908,0.9438,0.9702,0.85,0.62,0.97,,,1.000(P),-1.96(D),0.0000(T),0.085,3.139189,2.44,-0.0246,0.379000,-0.252000,0.517000,0.730000,0.000000,0.000000,8.4205
synonymous_variant,ZNF221,SILENT,NM_001297588.1:p.Gln298Gln/c.894A>G,caA/caG,LOW,,0.961262,1,rs453640,,,,,,chr19,44470548,44470548,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln298Gln/c.894A>G|617|ZNF221|protein_coding|CODING|NM_001297588.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln298Gln/c.894A>G|617|ZNF221|protein_coding|CODING|NM_001297589.1|5|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln298Gln/c.894A>G|617|ZNF221|protein_coding|CODING|NM_013359.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,1,0.9841,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
missense_variant,ZNF221,MISSENSE,NM_001297588.1:p.Ala337Pro/c.1009G>C,Gca/Cca,MODERATE,,0.958267,1,rs435590,1(T),0.0(B),-2.1(N),-1.0213(T),,chr19,44470663,44470663,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala337Pro/c.1009G>C|617|ZNF221|protein_coding|CODING|NM_001297588.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala337Pro/c.1009G>C|617|ZNF221|protein_coding|CODING|NM_001297589.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala337Pro/c.1009G>C|617|ZNF221|protein_coding|CODING|NM_013359.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,1,0.9827,1,0.95,0.87,1.00,,,1.000(P),2.9(T),0.0000(T),0.141,-0.255343,2.54,-0.0686,-0.357000,-0.005000,2.949000,0.337000,0.002000,0.506000,6.9592
missense_variant,ZNF221,MISSENSE,NM_001297588.1:p.Ser519Thr/c.1555T>A,Tca/Aca,MODERATE,,0.736422,0.8452,rs365745,0.05(D),0.013(B),2.055(M),-1.0800(T),,chr19,44471209,44471209,T,A,hom,"missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser519Thr/c.1555T>A|617|ZNF221|protein_coding|CODING|NM_001297588.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser519Thr/c.1555T>A|617|ZNF221|protein_coding|CODING|NM_001297589.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser519Thr/c.1555T>A|617|ZNF221|protein_coding|CODING|NM_013359.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7648,0.8487,0.8539,0.75,0.55,0.86,,,1.000(P),2.25(T),0.0000(T),0.041,2.198883,2.63,1.55,0.260000,0.237000,-0.319000,0.899000,0.003000,0.000000,4.2693
missense_variant,ZNF221,MISSENSE,NM_001297588.1:p.Gly557Arg/c.1669G>A,Ggg/Agg,MODERATE,,0.85024,0.8611,rs366111,0.03(D),0.0(B),-0.185(N),-1.0732(T),,chr19,44471323,44471323,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly557Arg/c.1669G>A|617|ZNF221|protein_coding|CODING|NM_001297588.1|5|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly557Arg/c.1669G>A|617|ZNF221|protein_coding|CODING|NM_001297589.1|5|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly557Arg/c.1669G>A|617|ZNF221|protein_coding|CODING|NM_013359.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8497,0.8905,0.8827,0.86,0.80,0.89,,,1.000(P),2.29(T),0.0000(T),0.014,3.100853,2.77,1.59,-0.535000,0.295000,2.195000,0.890000,0.283000,0.671000,5.1504
missense_variant,ZNF155,MISSENSE,NM_001260488.1:p.Ile168Phe/c.502A>T,Atc/Ttc,MODERATE,,0.977636,1,rs398235,1(T),0.0(B),-3.215(N),-1.0268(T),,chr19,44500478,44500478,A,T,hom,"missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile157Phe/c.469A>T|538|ZNF155|protein_coding|CODING|NM_001260486.1|5|1),missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile157Phe/c.469A>T|538|ZNF155|protein_coding|CODING|NM_001260487.1|5|1),missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile168Phe/c.502A>T|549|ZNF155|protein_coding|CODING|NM_001260488.1|6|1),missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile157Phe/c.469A>T|538|ZNF155|protein_coding|CODING|NM_003445.3|5|1),missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile157Phe/c.469A>T|538|ZNF155|protein_coding|CODING|NM_198089.2|5|1),downstream_gene_variant(MODIFIER||570|||LOC101928063||NON_CODING|NR_110727.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9899,1,0.98,0.93,1.00,,,1.000(P),"5.32,5.32(T,T)",0.0000(T),0.162,-1.229492,2.7,1.65,-0.527000,-0.100000,-0.019000,0.053000,0.001000,0.000000,3.9249
missense_variant,ZNF155,MISSENSE,NM_001260488.1:p.Arg262His/c.785G>A,cGt/cAt,MODERATE,,0.897364,0.9861,rs448921,0.16(T),0.002(B),0.895(L),-1.0544(T),,chr19,44500761,44500761,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg251His/c.752G>A|538|ZNF155|protein_coding|CODING|NM_001260486.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg251His/c.752G>A|538|ZNF155|protein_coding|CODING|NM_001260487.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg262His/c.785G>A|549|ZNF155|protein_coding|CODING|NM_001260488.1|6|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg251His/c.752G>A|538|ZNF155|protein_coding|CODING|NM_003445.3|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg251His/c.752G>A|538|ZNF155|protein_coding|CODING|NM_198089.2|5|1),downstream_gene_variant(MODIFIER||287|||LOC101928063||NON_CODING|NR_110727.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9796,0.9669,0.993,0.89,0.71,0.99,,,1.000(P),"1.19,2.21(T,T)",0.0000(T),0.02,-0.061040,2.59,-5.18,-1.390000,-2.367000,-2.884000,0.002000,0.000000,0.000000,6.5742
synonymous_variant,ZNF155,SILENT,NM_001260488.1:p.Glu380Glu/c.1140A>G,gaA/gaG,LOW,,0.90655,1,rs388812,,,,,,chr19,44501116,44501116,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu369Glu/c.1107A>G|538|ZNF155|protein_coding|CODING|NM_001260486.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu369Glu/c.1107A>G|538|ZNF155|protein_coding|CODING|NM_001260487.1|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu380Glu/c.1140A>G|549|ZNF155|protein_coding|CODING|NM_001260488.1|6|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu369Glu/c.1107A>G|538|ZNF155|protein_coding|CODING|NM_003445.3|5|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu369Glu/c.1107A>G|538|ZNF155|protein_coding|CODING|NM_198089.2|5|1),non_coding_exon_variant(MODIFIER|||n.2148T>C||LOC101928063||NON_CODING|NR_110727.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9712,0.993,0.90,0.72,0.99,,,,,,,,,,,,,,,,
synonymous_variant,ZNF155,SILENT,NM_001260488.1:p.Gly417Gly/c.1251A>G,ggA/ggG,LOW,,0.903554,1,rs388471,,,,,,chr19,44501227,44501227,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly406Gly/c.1218A>G|538|ZNF155|protein_coding|CODING|NM_001260486.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly406Gly/c.1218A>G|538|ZNF155|protein_coding|CODING|NM_001260487.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly417Gly/c.1251A>G|549|ZNF155|protein_coding|CODING|NM_001260488.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly406Gly/c.1218A>G|538|ZNF155|protein_coding|CODING|NM_003445.3|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly406Gly/c.1218A>G|538|ZNF155|protein_coding|CODING|NM_198089.2|5|1),non_coding_exon_variant(MODIFIER|||n.2037T>C||LOC101928063||NON_CODING|NR_110727.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9654,0.992,0.90,0.71,0.99,,,,,,,,,,,,,,,,
missense_variant,ZNF222,MISSENSE,NM_001129996.1:p.Val98Phe/c.292G>T,Gtt/Ttt,MODERATE,COSM3766369(1),0.416134,0.2897,rs7258517,0.72(T),"0.033,0.025(B,B)",-0.49(N),-1.0318(T),,chr19,44535999,44535999,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val98Phe/c.292G>T|491|ZNF222|protein_coding|CODING|NM_001129996.1|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Ttt|p.Val58Phe/c.172G>T|451|ZNF222|protein_coding|CODING|NM_013360.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6442,0.3559,0.7068,0.54,0.24,0.70,,,1.000(P),"3.36,3.4(T,T)",0.0000(T),0.063,1.563133,2.14,-3.06,0.205000,-0.521000,-3.161000,0.707000,0.000000,0.000000,4.3188
synonymous_variant,ZNF223,SILENT,NM_013361.5:p.Arg74Arg/c.222G>A,agG/agA,LOW,COSM4000779(1),0.730631,0.5655,rs3826941,,,,,,chr19,44564981,44564981,G,A,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg74Arg/c.222G>A|482|ZNF223|protein_coding|CODING|NM_013361.5|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8374,0.7133,0.8917,0.81,0.71,0.87,,,,,,,,,,,,,,,,
missense_variant,ZNF223,MISSENSE,NM_013361.5:p.Leu138Ile/c.412C>A,Cta/Ata,MODERATE,,0.401558,0.2996,rs6509138,0.19(T),0.04(B),0.695(N),-1.0582(T),,chr19,44570393,44570393,C,A,hom,missense_variant(MODERATE|MISSENSE|Cta/Ata|p.Leu138Ile/c.412C>A|482|ZNF223|protein_coding|CODING|NM_013361.5|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.6196,0.3516,0.659,0.50,0.23,0.65,,,1.000(P),3.56(T),0.0000(T),0.06,0.640147,2.18,-0.505,0.313000,0.221000,.,0.071000,0.005000,.,2.0444
synonymous_variant,ZNF223,SILENT,NM_013361.5:p.Ala190Ala/c.570G>A,gcG/gcA,LOW,,0.773962,0.5655,rs4375771,,,,,,chr19,44570551,44570551,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala190Ala/c.570G>A|482|ZNF223|protein_coding|CODING|NM_013361.5|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.8395,0.7262,0.8917,0.86,0.83,0.87,,,,,,,,,,,,,,,,
synonymous_variant,ZNF223,SILENT,NM_013361.5:p.His391His/c.1173T>C,caT/caC,LOW,,0.414337,0.3006,rs4433920,,,,,,chr19,44571154,44571154,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His391His/c.1173T>C|482|ZNF223|protein_coding|CODING|NM_013361.5|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.6421,0.3718,0.6839,0.53,0.24,0.68,,,,,,,,,,,,,,,,
synonymous_variant,ZNF284,SILENT,NM_001037813.2:p.His309His/c.927C>T,caC/caT,LOW,,0.435304,0.2986,rs7255701,,,,,,chr19,44590558,44590558,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His309His/c.927C>T|593|ZNF284|protein_coding|CODING|NM_001037813.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6503,0.3631,0.665,0.55,0.34,0.65,,,,,,,,,,,,,,,,
missense_variant,ZNF284,MISSENSE,NM_001037813.2:p.Glu577Lys/c.1729G>A,Gag/Aag,MODERATE,COSM4154248(1),0.760383,0.6131,rs8113249,0.32(T),0.0(B),-2.015(N),-1.0826(T),,chr19,44591360,44591360,G,A,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu577Lys/c.1729G>A|593|ZNF284|protein_coding|CODING|NM_001037813.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7096,0.7363,0.836,0.85,0.88,0.83,,,1.000(P),3.59(T),0.0000(T),0.045,-1.000524,1.03,-0.0361,-0.556000,-0.615000,-1.971000,0.229000,0.707000,0.007000,6.1894
missense_variant,ZNF224,MISSENSE,NM_013398.2:p.Met118Val/c.352A>G,Atg/Gtg,MODERATE,,0.788938,0.5942,rs2068061,0.57(T),0.0(B),0.895(L),-1.0492(T),,chr19,44610665,44610665,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met118Val/c.352A>G|707|ZNF224|protein_coding|CODING|NM_013398.2|6|1),non_coding_exon_variant(MODIFIER|||n.2188T>C||LOC100379224||NON_CODING|NR_033341.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8088,0.745,0.8797,0.87,0.87,0.87,,,1.000(P),3.48(T),0.0000(T),0.015,-2.193079,2.73,-0.821,-1.290000,-0.646000,-1.460000,0.000000,0.000000,0.000000,7.3172
missense_variant,ZNF224,MISSENSE,NM_013398.2:p.His162Leu/c.485A>T,cAc/cTc,MODERATE,COSM1394390(1),0.800919,0.6151,rs4239529,0.67(T),0.0(B),1.205(L),-1.0018(T),,chr19,44610798,44610798,A,T,hom,"missense_variant(MODERATE|MISSENSE|cAc/cTc|p.His162Leu/c.485A>T|707|ZNF224|protein_coding|CODING|NM_013398.2|6|1),non_coding_exon_variant(MODIFIER|||n.2055T>A||LOC100379224||NON_CODING|NR_033341.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8098,0.7522,0.8797,0.88,0.89,0.87,,,1.000(P),2.47(T),0.0000(T),0.021,0.437044,2.66,-1.7,-0.336000,-0.740000,-1.077000,0.162000,0.000000,0.000000,5.012
synonymous_variant,ZNF224,SILENT,NM_013398.2:p.His251His/c.753T>C,caT/caC,LOW,,0.659545,0.5317,rs7508149,,,,,,chr19,44611066,44611066,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His251His/c.753T>C|707|ZNF224|protein_coding|CODING|NM_013398.2|6|1),non_coding_exon_variant(MODIFIER|||n.1787A>G||LOC100379224||NON_CODING|NR_033341.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7638,0.5605,0.8559,0.78,0.62,0.86,,,,,,,,,,,,,,,,
synonymous_variant,ZNF224,SILENT,NM_013398.2:p.Glu369Glu/c.1107A>G,gaA/gaG,LOW,,0.644169,0.5308,rs4508518,,,,,,chr19,44611420,44611420,A,G,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu369Glu/c.1107A>G|707|ZNF224|protein_coding|CODING|NM_013398.2|6|1),non_coding_exon_variant(MODIFIER|||n.1433T>C||LOC100379224||NON_CODING|NR_033341.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6912,0.5504,0.8091,0.76,0.66,0.82,,,,,,,,,,,,,,,,
synonymous_variant,ZNF224,SILENT,NM_013398.2:p.Gly564Gly/c.1692A>G,ggA/ggG,LOW,,0.584864,0.5357,rs3746321,,,,,,chr19,44612005,44612005,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly564Gly/c.1692A>G|707|ZNF224|protein_coding|CODING|NM_013398.2|6|1),non_coding_exon_variant(MODIFIER|||n.848T>C||LOC100379224||NON_CODING|NR_033341.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6892,0.5144,0.8131,0.70,0.46,0.82,,,,,,,,,,,,,,,,
synonymous_variant,ZNF224,SILENT,NM_013398.2:p.Pro567Pro/c.1701A>T,ccA/ccT,LOW,,0.585463,0.5367,rs3200505,,,,,,chr19,44612014,44612014,A,T,hom,"synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro567Pro/c.1701A>T|707|ZNF224|protein_coding|CODING|NM_013398.2|6|1),non_coding_exon_variant(MODIFIER|||n.839T>A||LOC100379224||NON_CODING|NR_033341.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6912,0.5144,0.8131,0.70,0.46,0.82,,,,,,,,,,,,,,,,
missense_variant,ZNF224,MISSENSE,NM_013398.2:p.Lys640Glu/c.1918A>G,Aaa/Gaa,MODERATE,,0.601238,0.5357,rs3746319,0.38(T),0.021(B),1.6(L),-1.0384(T),,chr19,44612231,44612231,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys640Glu/c.1918A>G|707|ZNF224|protein_coding|CODING|NM_013398.2|6|1),non_coding_exon_variant(MODIFIER|||n.622T>C||LOC100379224||NON_CODING|NR_033341.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6892,0.5259,0.8091,0.71,0.51,0.82,,,1.000(P),3.38(T),0.0000(T),0.056,0.931901,2.16,-4.31,0.482000,-0.847000,-2.663000,0.014000,0.001000,0.000000,9.9081
missense_variant,ZNF234,MISSENSE,NM_001144824.1:p.Val16Ile/c.46G>A,Gtc/Atc,MODERATE,,0.322284,0.4008,rs2293587,0.21(T),0.096(B),1.15(L),-0.9735(T),,chr19,44652954,44652954,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val16Ile/c.46G>A|700|ZNF234|protein_coding|CODING|NM_001144824.1|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val16Ile/c.46G>A|700|ZNF234|protein_coding|CODING|NM_006630.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.316,0.2767,0.3121,0.33,0.28,0.35,,,1.000(P),4.67(T),0.0000(T),0.023,1.628303,3.85,-1.13,0.561000,-0.212000,0.782000,0.967000,0.895000,0.772000,5.0799
synonymous_variant,ZNF234,SILENT,NM_001144824.1:p.Gly266Gly/c.798A>G,ggA/ggG,LOW,,0.569289,0.4931,rs12609635,,,,,,chr19,44660967,44660967,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly266Gly/c.798A>G|700|ZNF234|protein_coding|CODING|NM_001144824.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly266Gly/c.798A>G|700|ZNF234|protein_coding|CODING|NM_006630.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4213,0.4726,0.3668,0.53,0.84,0.37,,,,,,,,,,,,,,,,
synonymous_variant,ZNF227,SILENT,NM_001289166.1:p.Asn240Asn/c.720T>C,aaT/aaC,LOW,,0.418331,0.4286,rs2279073,,,,,,chr19,44739303,44739303,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn240Asn/c.720T>C|799|ZNF227|protein_coding|CODING|NM_001289166.1|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn189Asn/c.567T>C|748|ZNF227|protein_coding|CODING|NM_001289167.1|6|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn189Asn/c.567T>C|748|ZNF227|protein_coding|CODING|NM_001289168.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn189Asn/c.567T>C|748|ZNF227|protein_coding|CODING|NM_001289169.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn161Asn/c.483T>C|720|ZNF227|protein_coding|CODING|NM_001289170.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn161Asn/c.483T>C|720|ZNF227|protein_coding|CODING|NM_001289171.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn143Asn/c.429T>C|702|ZNF227|protein_coding|CODING|NM_001289172.1|4|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn212Asn/c.636T>C|771|ZNF227|protein_coding|CODING|NM_001289173.1|5|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn240Asn/c.720T>C|799|ZNF227|protein_coding|CODING|NM_182490.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6442,0.4841,0.5417,0.43,0.20,0.55,,,,,,,,,,,,,,,,
synonymous_variant,ZNF227,SILENT,NM_001289166.1:p.His272His/c.816T>C,caT/caC,LOW,,0.635583,0.5327,rs2279072,,,,,,chr19,44739399,44739399,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His272His/c.816T>C|799|ZNF227|protein_coding|CODING|NM_001289166.1|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His221His/c.663T>C|748|ZNF227|protein_coding|CODING|NM_001289167.1|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His221His/c.663T>C|748|ZNF227|protein_coding|CODING|NM_001289168.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His221His/c.663T>C|748|ZNF227|protein_coding|CODING|NM_001289169.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His193His/c.579T>C|720|ZNF227|protein_coding|CODING|NM_001289170.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His193His/c.579T>C|720|ZNF227|protein_coding|CODING|NM_001289171.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His175His/c.525T>C|702|ZNF227|protein_coding|CODING|NM_001289172.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His244His/c.732T>C|771|ZNF227|protein_coding|CODING|NM_001289173.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His272His/c.816T>C|799|ZNF227|protein_coding|CODING|NM_182490.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6616,0.7104,0.5706,0.61,0.71,0.56,,,,,,,,,,,,,,,,
missense_variant,ZNF233,MISSENSE,NM_001207005.1:p.Lys531Thr/c.1592A>C,aAa/aCa,MODERATE,COSM4132016(1),0.754193,0.7768,rs1233428,1(T),0.0(B),-1.3(N),-1.0074(T),,chr19,44778405,44778405,A,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys531Thr/c.1592A>C|670|ZNF233|protein_coding|CODING|NM_001207005.1|5|1),missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys531Thr/c.1592A>C|670|ZNF233|protein_coding|CODING|NM_181756.2|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7526,0.7997,0.6769,0.71,0.78,0.68,,,0.002(P),"2.66,2.66(T,T)",0.0000(T),0.07,-1.058156,4.26,0.561,-0.167000,-0.024000,-0.489000,0.989000,0.085000,0.000000,4.2033
missense_variant,ZNF235,MISSENSE,NM_004234.4:p.Thr594Asn/c.1781C>A,aCt/aAt,MODERATE,,0.000599042,0,rs45540435,0(D),"0.999,0.999(D,D)",1.795(L),-0.8174(T),,chr19,44791807,44791807,G,T,het,missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr594Asn/c.1781C>A|738|ZNF235|protein_coding|CODING|NM_004234.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0,0.0029,0.001,0.00,0.00,0.00,,0.000516(D),1.000(D),1.76(T),0.1382(T),0.337,3.408144,5.04,3.92,0.462000,2.502000,2.215000,0.978000,0.973000,0.996000,14.1521
missense_variant,ZNF235,MISSENSE,NM_004234.4:p.His296Pro/c.887A>C,cAt/cCt,MODERATE,COSM4000785(2),0.440695,0.5169,rs2125579,0.02(D),"0.001,0.002(B,B)",0.895(L),-0.9623(T),,chr19,44792701,44792701,T,G,hom,missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His296Pro/c.887A>C|738|ZNF235|protein_coding|CODING|NM_004234.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6697,0.4582,0.5427,0.44,0.22,0.55,,0.324715(N),1.000(P),2.48(T),0.0000(T),0.073,1.081627,4.32,-8.64,0.370000,-2.264000,0.852000,0.002000,0.000000,0.166000,8.9373
synonymous_variant,ZNF235,SILENT,NM_004234.4:p.Leu207Leu/c.619C>T,Cta/Tta,LOW,,0.757987,0.7778,rs2609908,,,,,,chr19,44792969,44792969,G,A,hom,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu207Leu/c.619C>T|738|ZNF235|protein_coding|CODING|NM_004234.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7699,0.8012,0.674,0.71,0.78,0.68,,,,,,,,,,,,,,,,
synonymous_variant,ZNF112,SILENT,NM_001083335.1:p.Thr548Thr/c.1644A>C,acA/acC,LOW,,0.65655,0.7629,rs2609880,,,,,,chr19,44832684,44832684,T,G,hom,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr548Thr/c.1644A>C|913|ZNF112|protein_coding|CODING|NM_001083335.1|5|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr542Thr/c.1626A>C|907|ZNF112|protein_coding|CODING|NM_013380.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6697,0.7651,0.6093,0.61,0.58,0.63,,,,,,,,,,,,,,,,
missense_variant,ZNF112,MISSENSE,NM_001083335.1:p.Tyr485His/c.1453T>C,Tat/Cat,MODERATE,,0.65655,0.7629,rs2722722,0.57(T),"0.004,0.002(B,B)",0.445(N),-1.0535(T),,chr19,44832875,44832875,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr485His/c.1453T>C|913|ZNF112|protein_coding|CODING|NM_001083335.1|5|1),missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr479His/c.1435T>C|907|ZNF112|protein_coding|CODING|NM_013380.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6697,0.7651,0.6093,0.61,0.58,0.63,,0.822614(N),1.000(P),"4.8,4.8,4.8(T,T,T)",0.0000(T),0.062,-0.464676,4.73,1.29,0.459000,0.414000,-0.077000,0.177000,0.001000,0.000000,0.3942
missense_variant,ZNF112,MISSENSE,NM_001083335.1:p.Glu446Gln/c.1336G>C,Gag/Cag,MODERATE,,0.65655,0.7629,rs2722723,0.4(T),"0.005,0.002(B,B)",0.905(L),-0.9833(T),,chr19,44832992,44832992,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu446Gln/c.1336G>C|913|ZNF112|protein_coding|CODING|NM_001083335.1|5|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu440Gln/c.1318G>C|907|ZNF112|protein_coding|CODING|NM_013380.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6697,0.7651,0.6093,0.61,0.58,0.63,,0.539192(N),1.000(P),"2.38,2.38,2.38(T,T,T)",0.0000(T),0.075,-0.353591,4.73,-2.54,0.561000,-0.165000,-3.138000,0.074000,0.019000,0.000000,0.9664
synonymous_variant,ZNF112,SILENT,NM_001083335.1:p.Glu274Glu/c.822G>A,gaG/gaA,LOW,,0.749002,0.7649,rs4325673,,,,,,chr19,44833506,44833506,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu274Glu/c.822G>A|913|ZNF112|protein_coding|CODING|NM_001083335.1|5|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu268Glu/c.804G>A|907|ZNF112|protein_coding|CODING|NM_013380.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7587,0.7968,0.6799,0.71,0.76,0.68,,,,,,,,,,,,,,,,
missense_variant,ZNF112,MISSENSE,NM_001083335.1:p.Phe159Leu/c.477C>G,ttC/ttG,MODERATE,,0.770367,0.7649,rs4280359,0.72(T),"0.0,0.0(B,B)",-1.04(N),-1.0544(T),,chr19,44833851,44833851,G,C,hom,"missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe159Leu/c.477C>G|913|ZNF112|protein_coding|CODING|NM_001083335.1|5|1),missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe153Leu/c.459C>G|907|ZNF112|protein_coding|CODING|NM_013380.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7597,0.8026,0.6799,0.73,0.83,0.68,,0.578370(N),1.000(P),"3.59,3.59,3.6(T,T,T)",0.0000(T),0.032,-1.230368,4.85,0.266,-1.168000,0.047000,-0.325000,0.632000,0.047000,0.001000,1.2132
synonymous_variant,ZNF112,SILENT,NM_001083335.1:p.Arg75Arg/c.225A>G,agA/agG,LOW,,0.65655,0.7629,rs2571104,,,,,,chr19,44840789,44840789,T,C,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg75Arg/c.225A>G|913|ZNF112|protein_coding|CODING|NM_001083335.1|4|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg69Arg/c.207A>G|907|ZNF112|protein_coding|CODING|NM_013380.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6697,0.7651,0.6093,0.62,0.58,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ZNF285,SILENT,NM_001291488.1:p.His577His/c.1731T>C,caT/caC,LOW,,0.480232,0.5069,rs1836280,,,,,,chr19,44890697,44890697,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His577His/c.1731T>C|597|ZNF285|protein_coding|CODING|NM_001291488.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His570His/c.1710T>C|590|ZNF285|protein_coding|CODING|NM_001291489.1|4|1),synonymous_variant(LOW|SILENT|caT/caC|p.His415His/c.1245T>C|435|ZNF285|protein_coding|CODING|NM_001291490.1|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His415His/c.1245T>C|435|ZNF285|protein_coding|CODING|NM_001291491.1|3|1),synonymous_variant(LOW|SILENT|caT/caC|p.His570His/c.1710T>C|590|ZNF285|protein_coding|CODING|NM_152354.5|4|1)","IMR90:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.5746,0.438,0.6571,0.54,0.36,0.63,,,,,,,,,,,,,,,,
missense_variant,ZNF285,MISSENSE,NM_001291488.1:p.Arg543Gly/c.1627A>G,Aga/Gga,MODERATE,COSM3756924(1),0.432907,0.1845,rs12610859,1(T),"0.0,0.0(B,B)",-1.77(N),-0.9595(T),,chr19,44890801,44890801,T,C,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg543Gly/c.1627A>G|597|ZNF285|protein_coding|CODING|NM_001291488.1|5|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg536Gly/c.1606A>G|590|ZNF285|protein_coding|CODING|NM_001291489.1|4|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg381Gly/c.1141A>G|435|ZNF285|protein_coding|CODING|NM_001291490.1|5|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg381Gly/c.1141A>G|435|ZNF285|protein_coding|CODING|NM_001291491.1|3|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg536Gly/c.1606A>G|590|ZNF285|protein_coding|CODING|NM_152354.5|4|1)","IMR90:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.5286,0.464,0.6382,0.55,0.43,0.62,,,0.000(P),2.77(T),0.0000(T),0.125,-0.119750,3.6,3.6,-0.380000,0.643000,1.725000,0.973000,0.692000,0.010000,10.3937
missense_variant,ZNF285,MISSENSE,NM_001291488.1:p.Asn215Ser/c.644A>G,aAc/aGc,MODERATE,,0.709065,0.6865,rs2571089,0.15(T),0.004(B),0.515(N),-1.0628(T),,chr19,44891784,44891784,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn215Ser/c.644A>G|597|ZNF285|protein_coding|CODING|NM_001291488.1|5|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn208Ser/c.623A>G|590|ZNF285|protein_coding|CODING|NM_001291489.1|4|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn53Ser/c.158A>G|435|ZNF285|protein_coding|CODING|NM_001291490.1|5|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn53Ser/c.158A>G|435|ZNF285|protein_coding|CODING|NM_001291491.1|3|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn208Ser/c.623A>G|590|ZNF285|protein_coding|CODING|NM_152354.5|4|1)","IMR90:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.7883,0.6369,0.9095,0.82,0.66,0.90,,,1.000(P),1.66(T),0.0000(T),0.016,-0.361505,2.85,-0.924,0.373000,-0.448000,0.120000,0.060000,0.000000,0.000000,1.833
missense_variant,ZNF229,MISSENSE,NM_014518.3:p.Gly662Arg/c.1984G>A,Gga/Aga,MODERATE,COSM3756926(1),0.287939,0.3294,rs1434579,0.04(D),0.95(D),2.545(M),-1.0985(T),,chr19,44932972,44932972,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly656Arg/c.1966G>A|819|ZNF229|protein_coding|CODING|NM_001278510.2|6|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly662Arg/c.1984G>A|825|ZNF229|protein_coding|CODING|NM_014518.3|6|1),non_coding_exon_variant(MODIFIER|||n.2873G>A||ZNF229||CODING|NR_103551.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,HepG2:H3K27me3",Tuberculosis,,,0.5143,0.2608,0.3598,0.26,0.09,0.34,,,0.030(P),,0.0000(T),0.365,4.337383,3.5,3.5,0.609000,1.677000,1.720000,0.143000,0.030000,0.197000,14.1802
synonymous_variant,ZNF229,SILENT,NM_014518.3:p.Thr484Thr/c.1452C>T,acC/acT,LOW,COSM148669(4),0.158746,0.1498,rs59505617,,,,,,chr19,44933504,44933504,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr478Thr/c.1434C>T|819|ZNF229|protein_coding|CODING|NM_001278510.2|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr484Thr/c.1452C>T|825|ZNF229|protein_coding|CODING|NM_014518.3|6|1),non_coding_exon_variant(MODIFIER|||n.2341C>T||ZNF229||CODING|NR_103551.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,HepG2:H3K27me3",,,,0.0746,0.3184,0.0984,0.12,0.16,0.11,,,,,,,,,,,,,,,,
missense_variant,ZNF229,MISSENSE,NM_014518.3:p.Ser417Asn/c.1250G>A,aGc/aAc,MODERATE,COSM1180615(2),0.16254,0.1558,rs57014690,0.36(T),0.001(B),1.675(L),-1.0543(T),,chr19,44933706,44933706,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser411Asn/c.1232G>A|819|ZNF229|protein_coding|CODING|NM_001278510.2|6|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser417Asn/c.1250G>A|825|ZNF229|protein_coding|CODING|NM_014518.3|6|1),non_coding_exon_variant(MODIFIER|||n.2139G>A||ZNF229||CODING|NR_103551.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.0777,0.3213,0.1024,0.13,0.17,0.11,,,1.000(P),,0.0000(T),0.063,1.539651,3.86,2.79,0.609000,1.694000,-1.359000,0.554000,0.042000,0.000000,6.4046
missense_variant,ZNF229,MISSENSE,NM_014518.3:p.Arg337Cys/c.1009C>T,Cgt/Tgt,MODERATE,COSM3756927(1),0.28774,0.3343,rs12151338,0.18(T),0.285(B),2.12(M),-0.9740(T),,chr19,44933947,44933947,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg331Cys/c.991C>T|819|ZNF229|protein_coding|CODING|NM_001278510.2|6|1),missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg337Cys/c.1009C>T|825|ZNF229|protein_coding|CODING|NM_014518.3|6|1),non_coding_exon_variant(MODIFIER|||n.1898C>T||ZNF229||CODING|NR_103551.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5245,0.2651,0.3678,0.26,0.08,0.35,,,1.000(P),,0.0000(T),0.247,0.866580,3.16,0.592,0.609000,0.609000,-3.507000,0.010000,0.001000,0.000000,9.6208
missense_variant,ZNF229,MISSENSE,NM_014518.3:p.Ser156Phe/c.467C>T,tCc/tTc,MODERATE,,0.88778,0.7024,rs2571174,0.42(T),0.0(B),0(N),-1.0425(T),,chr19,44934489,44934489,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser150Phe/c.449C>T|819|ZNF229|protein_coding|CODING|NM_001278510.2|6|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser156Phe/c.467C>T|825|ZNF229|protein_coding|CODING|NM_014518.3|6|1),non_coding_exon_variant(MODIFIER|||n.1356C>T||ZNF229||CODING|NR_103551.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.9131,0.9582,0.8887,0.92,0.96,0.90,,,1.000(P),,0.0000(T),0.083,-0.664915,3.54,-6.92,-1.150000,-2.066000,-4.169000,0.003000,0.000000,0.000000,1.1696
synonymous_variant,ZNF229,SILENT,NM_014518.3:p.Lys101Lys/c.303A>G,aaA/aaG,LOW,COSM3756928(1),0.163139,0.1558,rs8113370,,,,,,chr19,44934653,44934653,T,C,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys95Lys/c.285A>G|819|ZNF229|protein_coding|CODING|NM_001278510.2|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys101Lys/c.303A>G|825|ZNF229|protein_coding|CODING|NM_014518.3|6|1),non_coding_exon_variant(MODIFIER|||n.1192A>G||ZNF229||CODING|NR_103551.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.0777,0.3228,0.1074,0.13,0.17,0.11,,,,,,,,,,,,,,,,
missense_variant,ZNF180,MISSENSE,NM_013256.5:p.Ile279Thr/c.836T>C,aTt/aCt,MODERATE,,0.00379393,0,rs74472964,0.09(T),"0.074,0.034,0.034(B,B,B)",0(N),-0.9756(T),,chr19,44981862,44981862,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile254Thr/c.761T>C|667|ZNF180|protein_coding|CODING|NM_001278508.2|4|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile252Thr/c.755T>C|665|ZNF180|protein_coding|CODING|NM_001278509.2|5|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile278Thr/c.833T>C|691|ZNF180|protein_coding|CODING|NM_001288759.2|5|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile252Thr/c.755T>C|665|ZNF180|protein_coding|CODING|NM_001291633.1|5|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile279Thr/c.836T>C|692|ZNF180|protein_coding|CODING|NM_013256.5|5|1),5_prime_UTR_variant(MODIFIER||194|c.-194T>C|349|ZNF180|protein_coding|CODING|NM_001288760.2|7|1),5_prime_UTR_variant(MODIFIER||194|c.-194T>C|349|ZNF180|protein_coding|CODING|NM_001288761.2|4|1),5_prime_UTR_variant(MODIFIER||194|c.-194T>C|349|ZNF180|protein_coding|CODING|NM_001288762.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0072,0.0072,0.007,0.01,0.00,0.01,,0.086679(N),0.997(N),"3.23,3.28(T,T)",0.0071(T),0.081,0.377467,5.3,3.08,0.533000,1.993000,1.434000,0.378000,0.319000,0.001000,5.2365
missense_variant,CEACAM20,MISSENSE,NM_001102597.2:p.Cys512Arg/c.1534T>C,Tgc/Cgc,MODERATE,COSM1129797(1),0.384385,0.3919,rs8100718,,,,,,chr19,45016116,45016116,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys512Arg/c.1534T>C|596|CEACAM20|protein_coding|CODING|NM_001102597.2|10|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys419Arg/c.1255T>C|491|CEACAM20|protein_coding|CODING|NM_001102598.2|9|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys419Arg/c.1255T>C|503|CEACAM20|protein_coding|CODING|NM_001102599.2|9|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys512Arg/c.1534T>C|584|CEACAM20|protein_coding|CODING|NM_001102600.2|10|1)",NHEK:H3K27me3,,,,0.5736,0.4078,0.4612,0.41,0.23,0.50,,,,,,,,,,,,,,,,
synonymous_variant,CEACAM20,SILENT,NM_001102597.2:p.Thr319Thr/c.957G>C,acG/acC,LOW,,0.373403,0.2698,rs12982449,,,,,,chr19,45024581,45024581,C,G,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr319Thr/c.957G>C|596|CEACAM20|protein_coding|CODING|NM_001102597.2|5|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr319Thr/c.957G>C|491|CEACAM20|protein_coding|CODING|NM_001102598.2|5|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr319Thr/c.957G>C|503|CEACAM20|protein_coding|CODING|NM_001102599.2|5|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr319Thr/c.957G>C|584|CEACAM20|protein_coding|CODING|NM_001102600.2|5|1)","H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4857,0.4265,0.6392,0.49,0.23,0.62,,,,,,,,,,,,,,,,
missense_variant,CEACAM20,MISSENSE,NM_001102597.2:p.Val108Ile/c.322G>A,Gtt/Att,MODERATE,,0.369609,0.2579,rs7260180,,,,,,chr19,45028169,45028169,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val108Ile/c.322G>A|596|CEACAM20|protein_coding|CODING|NM_001102597.2|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val108Ile/c.322G>A|491|CEACAM20|protein_coding|CODING|NM_001102598.2|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val108Ile/c.322G>A|503|CEACAM20|protein_coding|CODING|NM_001102599.2|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val108Ile/c.322G>A|584|CEACAM20|protein_coding|CODING|NM_001102600.2|3|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,H1ESC:H3K9me3,IMR90:H3K27me3",,,,0.4857,0.4265,0.6342,0.48,0.22,0.61,,,,,,,,,,,,,,,,
missense_variant,PVR,MISSENSE,NM_006505.4:p.Ile340Met/c.1020A>G,atA/atG,MODERATE,,0.992013,1,rs203710,0.13(T),"0.001,0.001(B,B)",-0.41(N),-0.9112(T),,chr19,45162038,45162038,A,G,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile340Met/c.1020A>G|417|PVR|protein_coding|CODING|NM_006505.4|6|1),missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile340Met/c.1020A>G|392|PVR|protein_coding|CODING|NM_001135770.3|6|1),splice_region_variant(LOW|||c.1016A>G|372|PVR|protein_coding|CODING|NM_001135768.2|6|1),intron_variant(MODIFIER|||c.991+860A>G|364|PVR|protein_coding|CODING|NM_001135769.2|5|1),intron_variant(MODIFIER|||c.1015+5A>G|372|PVR|protein_coding|CODING|NM_001135768.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.998,0.9841,0.9761,0.98,1.00,0.98,,0.003735(N),1.000(P),"-2.27,-2.26(D,D)",0.0000(T),0.013,-1.942180,2.37,-3.4,-2.441000,-1.104000,-2.559000,0.000000,0.000000,0.000000,4.7132
synonymous_variant,CEACAM16,SILENT,NM_001039213.3:p.Thr405Thr/c.1215C>T,acC/acT,LOW,,0.108427,0.2282,rs61744497,,,,,,chr19,45211407,45211407,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr405Thr/c.1215C>T|425|CEACAM16|protein_coding|CODING|NM_001039213.3|6|1),NHEK:H3K27me3,,,,0.1145,0.0447,0.1551,0.10,0.03,0.14,,,,,,,,,,,,,,,,
missense_variant,BCAM,MISSENSE,NM_005581.4:p.Thr539Ala/c.1615A>G,Acc/Gcc,MODERATE,COSM1179785(2),0.270367,0.1131,rs1135062,0.96(T),0.0(B),0.205(N),-1.0002(T),,chr19,45322744,45322744,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr539Ala/c.1615A>G|588|BCAM|protein_coding|CODING|NM_001013257.2|12|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr539Ala/c.1615A>G|628|BCAM|protein_coding|CODING|NM_005581.4|12|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000000468.1,,0.2076,0.2305,0.3002,0.34,0.41,0.30,,,1.000(P),"0.27,0.29(T,T)",0.0000(T),0.104,0.247523,4.24,-8.33,0.434000,-1.683000,-0.967000,0.187000,0.001000,0.000000,1.2179
synonymous_variant,PVRL2,SILENT,NM_001042724.1:p.Pro409Pro/c.1227A>G,ccA/ccG,LOW,,0.970847,1,rs283814,,,,,,chr19,45389224,45389224,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro409Pro/c.1227A>G|538|PVRL2|protein_coding|CODING|NM_001042724.1|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9806,0.9467,0.9145,0.95,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,TOMM40,SILENT,NM_001128916.1:p.Phe113Phe/c.339T>C,ttT/ttC,LOW,,0.30631,0.246,rs157581,,,,,,chr19,45395714,45395714,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe113Phe/c.339T>C|361|TOMM40|protein_coding|CODING|NM_001128916.1|3|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe113Phe/c.339T>C|361|TOMM40|protein_coding|CODING|NM_001128917.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe113Phe/c.339T>C|361|TOMM40|protein_coding|CODING|NM_006114.2|3|1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,K562:H3K9ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,0.2444,0.2507,0.2078,0.30,0.47,0.21,,,,,,,,,,,,,,,,
synonymous_variant,TOMM40,SILENT,NM_001128916.1:p.Phe131Phe/c.393C>T,ttC/ttT,LOW,,0.114018,0.0962,rs11556505,,,,,,chr19,45396144,45396144,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe131Phe/c.393C>T|361|TOMM40|protein_coding|CODING|NM_001128916.1|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe131Phe/c.393C>T|361|TOMM40|protein_coding|CODING|NM_001128917.1|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe131Phe/c.393C>T|361|TOMM40|protein_coding|CODING|NM_006114.2|4|1)","H1ESC:H3K36me3,K562:H3K4me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.1247,0.1052,0.1312,0.13,0.12,0.13,,,,,,,,,,,,,,,,
missense_variant,APOE,MISSENSE,NM_000041.2:p.Cys130Arg/c.388T>C,Tgc/Cgc,MODERATE,COSM3749517(1),0.150559,0.0863,rs429358,1(T),0.001(B),-1.7(N),-1.0126(T),,chr19,45411941,45411941,T,C,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys130Arg/c.388T>C|317|APOE|protein_coding|CODING|NM_000041.2|4|1),"H1ESC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3","Alzheimer_s_disease_biomarkers,Alzheimer_s_disease_biomarkers",RCV000019438.27|RCV000019448.29|RCV000019455.26|RCV000019456.26|RCV000019458.22,,0.0869,0.1037,0.1551,0.14,0.19,0.12,,0.148941(N),1.000(P),"-0.24,-1.45,-1.45(T,T,T)",0.0000(T),0.432,-1.965077,5.25,3.02,-0.215000,1.239000,0.121000,0.109000,0.404000,0.019000,3.0382
missense_variant,APOC4,MISSENSE,NM_001646.2:p.Leu36Pro/c.107T>C,cTg/cCg,MODERATE,COSM4132109(1),0.664337,0.7262,rs1132899,0.2(T),0.0(B),-0.11(N),-0.9996(T),,chr19,45448036,45448036,T,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu36Pro/c.107T>C|127|APOC4|protein_coding|CODING|NM_001646.2|2|1),upstream_gene_variant(MODIFIER||1203||101|APOC2|protein_coding|CODING|NM_000483.4||1),non_coding_exon_variant(MODIFIER|||n.147T>C||APOC4-APOC2||NON_CODING|NR_037932.1|2|1)",,,,,0.6391,0.7248,0.498,0.58,0.72,0.51,,0.623646(N),1.000(P),"1.87,1.87(T,T)",0.0000(T),0.013,-0.366865,2.44,-4.88,-2.059000,-1.844000,-1.990000,0.002000,0.000000,0.000000,6.3134
missense_variant,APOC4,MISSENSE,NM_001646.2:p.Leu96Arg/c.287T>G,cTc/cGc,MODERATE,COSM4132110(2),0.439297,0.5724,rs5167,1(T),0.0(B),-1.75(N),-0.9478(T),,chr19,45448465,45448465,T,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu96Arg/c.287T>G|127|APOC4|protein_coding|CODING|NM_001646.2|3|1),upstream_gene_variant(MODIFIER||774||101|APOC2|protein_coding|CODING|NM_000483.4||1),non_coding_exon_variant(MODIFIER|||n.327T>G||APOC4-APOC2||NON_CODING|NR_037932.1|3|1)",,,,,0.3415,0.4553,0.3668,0.39,0.46,0.36,,0.014031(N),1.000(P),"2.23,2.23(T,T)",0.0000(T),0.081,-2.515632,4.26,2.07,-0.702000,0.176000,1.155000,0.060000,0.006000,0.042000,4.6363
synonymous_variant,CLPTM1,SILENT,NM_001294.3:p.Ala88Ala/c.264T>C,gcT/gcC,LOW,COSM4132111(1),0.902356,0.9306,rs204481,,,,,,chr19,45476422,45476422,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala74Ala/c.222T>C|655|CLPTM1|protein_coding|CODING|NM_001282175.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala88Ala/c.264T>C|669|CLPTM1|protein_coding|CODING|NM_001294.3|3|1),5_prime_UTR_variant(MODIFIER||43|c.-43T>C|567|CLPTM1|protein_coding|CODING|NM_001282176.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.956,0.8703,0.9672,0.92,0.85,0.96,,,,,,,,,,,,,,,,
synonymous_variant,CLPTM1,SILENT,NM_001294.3:p.Pro309Pro/c.927A>G,ccA/ccG,LOW,COSM3721275(1),0.426717,0.5288,rs3786505,,,,,,chr19,45490570,45490570,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro295Pro/c.885A>G|655|CLPTM1|protein_coding|CODING|NM_001282175.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro207Pro/c.621A>G|567|CLPTM1|protein_coding|CODING|NM_001282176.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro309Pro/c.927A>G|669|CLPTM1|protein_coding|CODING|NM_001294.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3425,0.4222,0.341,0.38,0.48,0.32,,,,,,,,,,,,,,,,
synonymous_variant,CLPTM1,SILENT,NM_001294.3:p.Gly331Gly/c.993T>C,ggT/ggC,LOW,COSM3766374(2),0.466054,0.3998,rs204468,,,,,,chr19,45490636,45490636,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly317Gly/c.951T>C|655|CLPTM1|protein_coding|CODING|NM_001282175.1|8|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly229Gly/c.687T>C|567|CLPTM1|protein_coding|CODING|NM_001282176.1|8|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly331Gly/c.993T>C|669|CLPTM1|protein_coding|CODING|NM_001294.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.4452,0.6262,0.53,0.33,0.63,,,,,,,,,,,,,,,,
missense_variant,CLASRP,MISSENSE,NM_007056.2:p.Lys174Glu/c.520A>G,Aag/Gag,MODERATE,,1,1,rs4803794,1(T),"0.0,0.001,0.0(B,B,B)",-1.1(N),-0.9436(T),,chr19,45561063,45561063,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys112Glu/c.334A>G|612|CLASRP|protein_coding|CODING|NM_001278439.1|6|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys174Glu/c.520A>G|674|CLASRP|protein_coding|CODING|NM_007056.2|7|1),non_coding_exon_variant(MODIFIER|||n.618A>G||CLASRP||CODING|NR_103529.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.002499(N),1.000(P),"1.62,1.62,1.02,1.63(T,T,T,T)",0.0000(T),0.195,0.044519,4.69,4.69,-0.226000,1.208000,7.032000,0.327000,0.993000,1.000000,10.8935
missense_variant,NKPD1,MISSENSE,NM_198478.3:p.Arg788Gly/c.2362A>G,Agg/Ggg,MODERATE,COSM439782(1),0.0826677,0.0575,rs28469095,0.66(T),0.0(B),-1.245(N),-1.0827(T),,chr19,45655333,45655333,T,C,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg788Gly/c.2362A>G|832|NKPD1|protein_coding|CODING|NM_198478.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HMEC:H3K4me1,IMR90:H3K27me3,GM06990:H3K36me3,H1ESC:CTCF",,,,0.1196,0.0908,0.1074,0.06,0.04,0.07,,0.001678(N),1.000(P),"0.95,0.94,0.25(T,T,T)",0.0010(T),0.019,1.998149,5.21,-7.79,-0.396000,-0.932000,-2.109000,0.001000,0.000000,0.000000,3.5468
synonymous_variant,BLOC1S3,SILENT,NM_212550.3:p.His122His/c.366C>T,caC/caT,LOW,,0.00758786,0,,,,,,,chr19,45682920,45682920,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His122His/c.366C>T|202|BLOC1S3|protein_coding|CODING|NM_212550.3|2|1),upstream_gene_variant(MODIFIER||1419||159|TRAPPC6A|protein_coding|CODING|NM_001270891.1||1),upstream_gene_variant(MODIFIER||1419||127|TRAPPC6A|protein_coding|CODING|NM_001270892.1||1),upstream_gene_variant(MODIFIER||1419||113|TRAPPC6A|protein_coding|CODING|NM_001270893.1||1),upstream_gene_variant(MODIFIER||1419||173|TRAPPC6A|protein_coding|CODING|NM_024108.2||1)","NHEK:H3K9ac,K562:Max,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,K562:Gabp,K562:Cmyc,IMR90:H3K36me3,K562:E2F6,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.0051,0.0101,0.0249,,,,,,,,,,,,,,,,,,,
missense_variant,EXOC3L2,MISSENSE,NM_138568.3:p.Arg398Gln/c.1193G>A,cGg/cAg,MODERATE,COSM1235795(1),0.00858626,0,rs189063316,0.06(T),0.046(B),0.805(L),-1.0168(T),,chr19,45716364,45716364,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg398Gln/c.1193G>A|409|EXOC3L2|protein_coding|CODING|NM_138568.3|10|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0204,0.0043,0.0199,0.01,0.00,0.01,,0.067396(U),1.000(N),"2.4,2.4(T,T)",0.0104(T),0.13,2.903346,3.52,1.26,0.305000,0.444000,0.957000,0.386000,0.112000,0.077000,4.0747
synonymous_variant,MARK4,SILENT,NM_001199867.1:p.Arg561Arg/c.1683T>C,cgT/cgC,LOW,COSM3756951(3),0.996605,1,rs173179,,,,,,chr19,45801018,45801018,T,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg561Arg/c.1683T>C|752|MARK4|protein_coding|CODING|NM_001199867.1|15|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg561Arg/c.1683T>C|688|MARK4|protein_coding|CODING|NM_031417.3|15|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9959,0.9942,0.9911,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,CKM,SILENT,NM_001824.4:p.Ile373Ile/c.1119T>C,atT/atC,LOW,COSM3766376(1),0.595248,0.2679,rs386596147,,,,,,chr19,45810035,45810035,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile373Ile/c.1119T>C|381|CKM|protein_coding|CODING|NM_001824.4|8|1),downstream_gene_variant(MODIFIER||1494||752|MARK4|protein_coding|CODING|NM_001199867.1||1),downstream_gene_variant(MODIFIER||1494||688|MARK4|protein_coding|CODING|NM_031417.3||1)","H1ESC:H3K27me3,NHEK:H3K27me3",,,,0.6421,0.4265,0.6909,0.75,0.82,0.71,,,,,,,,,,,,,,,,
synonymous_variant,CKM,SILENT,NM_001824.4:p.Pro123Pro/c.369T>C,ccT/ccC,LOW,COSM292301(2),0.407149,0.2381,rs1133190,,,,,,chr19,45818835,45818835,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro123Pro/c.369T>C|381|CKM|protein_coding|CODING|NM_001824.4|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5409,0.3372,0.6342,0.54,0.35,0.63,,,,,,,,,,,,,,,,
synonymous_variant,ERCC2,SILENT,NM_000400.3:p.Arg156Arg/c.468A>C,cgA/cgC,LOW,,0.636182,0.4901,rs238406,,,,,,chr19,45868309,45868309,T,G,het,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg156Arg/c.468A>C|760|ERCC2|protein_coding|CODING|NM_000400.3|6|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg132Arg/c.396A>C|405|ERCC2|protein_coding|CODING|NM_001130867.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5767,0.487,0.5497,0.66,0.87,0.56,,,,,,,,,,,,,,,,
synonymous_variant,OPA3,SILENT,NM_025136.3:p.Ala77Ala/c.231T>C,gcT/gcC,LOW,COSM439792(4),0.766973,0.8869,rs3826860,,,,,,chr19,46057081,46057081,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala77Ala/c.231T>C|179|OPA3|protein_coding|CODING|NM_025136.3|2|1),intron_variant(MODIFIER|||c.143-24367T>C|180|OPA3|protein_coding|CODING|NM_001017989.2|1|1)","NHEK:CTCF,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,IMR90:H3K36me3,HMEC:CTCF,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,H1ESC:Rad21,H1ESC:CTCF",,RCV000020908.1|RCV000082252.3,,0.7035,0.8055,0.664,0.68,0.76,0.64,,,,,,,,,,,,,,,,
synonymous_variant,GPR4,SILENT,NM_005282.2:p.Gly176Gly/c.528C>T,ggC/ggT,LOW,,0.165136,0.1895,rs3745820,,,,,,chr19,46094597,46094597,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly176Gly/c.528C>T|362|GPR4|protein_coding|CODING|NM_005282.2|2|1),"NHEK:CTCF,K562:Max,K562:CTCF,HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,K562:Cmyc,K562:E2F6,NHEK:H3K27me3,HepG2:DNase1,GM06990:DNase1,K562:DNase1",,,,0.1984,0.1787,0.2763,0.20,0.07,0.27,,,,,,,,,,,,,,,,
splice_donor_variant,C19orf83,protein_coding,NM_001242348.1:c.1G>T,,HIGH,,0.613618,0.4921,rs2286756,,,,,C19orf83:1.00(1);,chr19,46145025,46145025,G,T,het,"splice_donor_variant(HIGH|||c.1G>T|104|C19orf83|protein_coding|CODING|NM_001242348.1|1|1),intron_variant(MODIFIER|||c.516-19C>A|850|EML2|protein_coding|CODING|NM_001193268.1|3|1),intron_variant(MODIFIER|||c.354-19C>A|796|EML2|protein_coding|CODING|NM_001193269.1|3|1),intron_variant(MODIFIER|||c.-172+1G>T|104|C19orf83|protein_coding|CODING|NM_001242348.1|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HMEC:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HMEC:H3K4me1,CD4:PolII,NHEK:H3K4me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,K562:H2AZ",,,,0.5746,0.6412,0.507,,,,,,,,,,,,,,,,,,,
missense_variant,SIX5,MISSENSE,NM_175875.4:p.Pro635Ser/c.1903C>T,Ccc/Tcc,MODERATE,COSM3756957(4),0.500998,0.6111,rs2014576,0.23(T),0.002(B),0.345(N),-0.9541(T),,chr19,46269076,46269076,G,A,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro635Ser/c.1903C>T|739|SIX5|protein_coding|CODING|NM_175875.4|3|1),"HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.5982,0.621,0.4523,0.40,0.35,0.43,,0.633071(N),1.000(P),-2.44(D),0.0000(T),0.053,1.919029,4.2,-0.76,0.555000,0.388000,-0.164000,0.942000,0.983000,0.011000,1.8982
missense_variant,SIX5,MISSENSE,NM_175875.4:p.Leu556Val/c.1666C>G,Ctg/Gtg,MODERATE,,0.903954,0.9226,rs2014377,1(T),0.0(B),-0.345(N),-0.9631(T),,chr19,46269313,46269313,G,C,hom,missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu556Val/c.1666C>G|739|SIX5|protein_coding|CODING|NM_175875.4|3|1),"HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3",,,,0.8855,0.8977,0.7913,0.87,0.97,0.82,,0.850599(N),1.000(P),-2.63(D),0.0000(T),0.105,-1.194238,4.42,2.09,-0.216000,0.490000,1.156000,0.803000,0.967000,0.094000,7.236
missense_variant,DMWD,MISSENSE,NM_004943.1:p.Ala582Val/c.1745C>T,gCg/gTg,MODERATE,,0.00519169,0,rs146577305,0.02(D),"0.371,0.867,0.74(B,P,P)",0.895(L),-0.1019(T),,chr19,46289009,46289009,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala582Val/c.1745C>T|674|DMWD|protein_coding|CODING|NM_004943.1|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0061,0.0058,0.0159,0.02,0.00,0.03,,0.000014(D),0.956(D),"-1.56,-1.56(D,D)",0.2918(T),0.171,3.509977,4.29,4.29,0.462000,2.402000,7.191000,0.256000,0.083000,0.996000,14.6065
synonymous_variant,DMWD,SILENT,NM_004943.1:p.Ser565Ser/c.1695C>T,agC/agT,LOW,,0.0061901,0,rs61744166,,,,,,chr19,46289059,46289059,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser565Ser/c.1695C>T|674|DMWD|protein_coding|CODING|NM_004943.1|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0058,0.0249,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,DMWD,SILENT,NM_004943.1:p.Pro454Pro/c.1362C>G,ccC/ccG,LOW,COSM439803(4),0.901158,0.9216,rs8110017,,,,,,chr19,46289392,46289392,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro454Pro/c.1362C>G|674|DMWD|protein_coding|CODING|NM_004943.1|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8845,0.8977,0.7962,0.87,0.94,0.83,,,,,,,,,,,,,,,,
synonymous_variant,FOXA3,SILENT,NM_004497.2:p.Pro318Pro/c.954C>A,ccC/ccA,LOW,,0.0696885,0.0714,rs3810327,,,,,,chr19,46376217,46376217,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro318Pro/c.954C>A|350|FOXA3|protein_coding|CODING|NM_004497.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.1033,0.0591,0.1113,0.07,0.03,0.09,,,,,,,,,,,,,,,,
synonymous_variant,MYPOP,SILENT,NM_001012643.2:p.Pro151Pro/c.453T>C,ccT/ccC,LOW,COSM3756962(1),0.845647,1,rs10423899,,,,,,chr19,46404579,46404579,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro151Pro/c.453T>C|399|MYPOP|protein_coding|CODING|NM_001012643.2|2|1),"HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8405,0.8559,0.7823,0.81,0.80,0.82,,,,,,,,,,,,,,,,
synonymous_variant,NOVA2,SILENT,NM_002516.2:p.Ala287Ala/c.861A>C,gcA/gcC,LOW,COSM3756963(6),0.735024,0.7937,rs28742045,,,,,,chr19,46443739,46443739,T,G,hom,synonymous_variant(LOW|SILENT|gcA/gcC|p.Ala287Ala/c.861A>C|492|NOVA2|protein_coding|CODING|NM_002516.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7331,0.5764,0.7018,0.73,0.80,0.69,,,,,,,,,,,,,,,,
synonymous_variant,NOVA2,SILENT,NM_002516.2:p.Leu238Leu/c.714G>T,ctG/ctT,LOW,COSM3756964(6),0.669529,0.7937,rs1047061,,,,,,chr19,46443886,46443886,C,A,hom,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu238Leu/c.714G>T|492|NOVA2|protein_coding|CODING|NM_002516.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7209,0.5259,0.66,0.66,0.64,0.68,,,,,,,,,,,,,,,,
synonymous_variant,CCDC61,SILENT,NM_001267723.1:p.His180His/c.540T>C,caT/caC,LOW,,0.933506,0.878,rs2287305,,,,,,chr19,46511548,46511548,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His180His/c.540T>C|512|CCDC61|protein_coding|CODING|NM_001267723.1|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9352,0.994,0.97,0.92,1.00,,,,,,,,,,,,,,,,
missense_variant,CCDC61,MISSENSE,NM_001267723.1:p.Thr271Ala/c.811A>G,Acg/Gcg,MODERATE,COSM3756965(1),0.114816,0.1081,rs7895,0.18(T),0.002(B),1.1(L),-1.1063(T),,chr19,46518651,46518651,A,G,het,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr271Ala/c.811A>G|512|CCDC61|protein_coding|CODING|NM_001267723.1|7|1),"HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1",,,,0.2147,0.0663,0.1392,0.10,0.05,0.12,,0.002663(N),0.000(P),,0.0009(T),0.085,1.868702,3.86,0.117,0.249000,0.058000,1.816000,0.823000,0.816000,0.995000,3.1397
missense_variant,CCDC61,MISSENSE,NM_001267723.1:p.Arg281Lys/c.842G>A,aGg/aAg,MODERATE,COSM3756966(2),0.115216,0.1081,rs7271,0.04(D),0.058(B),1.7(L),-1.0831(T),,chr19,46518682,46518682,G,A,het,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg281Lys/c.842G>A|512|CCDC61|protein_coding|CODING|NM_001267723.1|7|1),"HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1,HMEC:H3K4me3,K562:DNase1",,,,0.2147,0.0663,0.1392,,,,,0.070186(N),0.001(P),,0.0012(T),0.105,0.917912,3.86,1.66,-1.267000,0.700000,0.580000,0.089000,0.052000,0.017000,6.3339
missense_variant,CCDC61,MISSENSE,NM_001267723.1:p.Gln389Arg/c.1166A>G,cAg/cGg,MODERATE,COSM3766379(2),0.759385,0.6052,rs2287306,1(T),0.0(B),-1.955(N),-0.9689(T),,chr19,46520026,46520026,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln389Arg/c.1166A>G|512|CCDC61|protein_coding|CODING|NM_001267723.1|10|1),"CD4:H2AZ,H1ESC:H3K36me3,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.7894,0.8084,0.7505,0.79,0.83,0.77,,0.002725(N),1.000(P),,0.0000(T),0.037,-1.154415,3.43,3.43,-0.255000,1.036000,1.506000,0.016000,0.640000,0.841000,7.149
missense_variant,IGFL4,MISSENSE,NM_001002923.1:p.Arg60Gln/c.179G>A,cGg/cAg,MODERATE,COSM3756967(2),0.104832,0.0952,rs17271272,0.38(T),0.001(B),0.345(N),-0.9991(T),,chr19,46543566,46543566,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg60Gln/c.179G>A|124|IGFL4|protein_coding|CODING|NM_001002923.1|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.1994,0.072,0.1471,0.12,0.05,0.15,,0.587861(N),1.000(P),1.73(T),0.0002(T),0.023,0.651165,2.19,-4.38,-2.606000,-0.957000,-0.534000,0.002000,0.000000,0.000000,3.3373
synonymous_variant,HIF3A,SILENT,NM_152795.3:p.Thr171Thr/c.513A>G,acA/acG,LOW,COSM1481238(5),0.764177,0.7817,rs2311054,0(D),,,-1.0312(T),,chr19,46811984,46811984,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr102Thr/c.306A>G|600|HIF3A|protein_coding|CODING|NM_022462.4|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr169Thr/c.507A>G|667|HIF3A|protein_coding|CODING|NM_152794.3|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr171Thr/c.513A>G|669|HIF3A|protein_coding|CODING|NM_152795.3|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr102Thr/c.306A>G|450|HIF3A|protein_coding|CODING|NM_152796.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.7975,0.7378,0.8748,0.81,0.71,0.86,,0.001868(N),0.000(P),,0.0000(T),.,0.854463,4.8,-2.56,-2.296000,-0.847000,-4.710000,0.692000,0.964000,0.000000,4.1116
missense_variant,HIF3A,MISSENSE,NM_152795.3:p.Ala202Val/c.605C>T,gCg/gTg,MODERATE,,0.0728834,0.0427,rs61750957,0.18(T),"0.04,0.085,0.015,0.022,0.054,0.006,0.054,0.032(B,B,B,B,B,B,B,B)",1.15(L),-1.0961(T),,chr19,46812451,46812451,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala133Val/c.398C>T|600|HIF3A|protein_coding|CODING|NM_022462.4|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala200Val/c.599C>T|667|HIF3A|protein_coding|CODING|NM_152794.3|6|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala202Val/c.605C>T|669|HIF3A|protein_coding|CODING|NM_152795.3|6|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala133Val/c.398C>T|450|HIF3A|protein_coding|CODING|NM_152796.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0511,0.0375,0.0676,0.09,0.13,0.07,,0.320722(N),1.000(P),"0.57,-0.11,0.44,0.57,-0.12(T,T,T,T,T)",0.0013(T),0.122,1.331867,4.4,0.966,-0.258000,0.209000,0.343000,0.016000,0.001000,0.000000,4.0977
synonymous_variant,HIF3A,SILENT,NM_152795.3:p.Asp284Asp/c.852T>C,gaT/gaC,LOW,,0.867812,0.8621,rs8101480,,,,-1.0335(T),,chr19,46815499,46815499,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp215Asp/c.645T>C|600|HIF3A|protein_coding|CODING|NM_022462.4|6|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp282Asp/c.846T>C|667|HIF3A|protein_coding|CODING|NM_152794.3|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp284Asp/c.852T>C|669|HIF3A|protein_coding|CODING|NM_152795.3|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp215Asp/c.645T>C|450|HIF3A|protein_coding|CODING|NM_152796.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K27me3",,,,0.8834,0.8559,0.9314,0.90,0.85,0.93,,,0.000(P),,0.0000(T),.,0.087264,4.11,-3.73,0.482000,-0.871000,-0.857000,0.559000,0.009000,0.001000,10.6482
synonymous_variant,PNMAL1,SILENT,NM_018215.3:p.Ala104Ala/c.312C>T,gcC/gcT,LOW,COSM4000800(3),0.236222,0.1796,rs4803960,,,,,,chr19,46973981,46973981,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala104Ala/c.312C>T|439|PNMAL1|protein_coding|CODING|NM_018215.3|2|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala104Ala/c.312C>T|378|PNMAL1|protein_coding|CODING|NM_001103149.1|2|1)","K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:H3K36me3,HSMM:H3K36me3,H1ESC:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2",,,,0.1728,0.2089,0.2485,0.28,0.35,0.24,,,,,,,,,,,,,,,,
synonymous_variant,PNMAL1,SILENT,NM_018215.3:p.Asp20Asp/c.60C>T,gaC/gaT,LOW,COSM4000803(2),0.214257,0.1806,rs3826851,,,,,,chr19,46974233,46974233,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp20Asp/c.60C>T|439|PNMAL1|protein_coding|CODING|NM_018215.3|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp20Asp/c.60C>T|378|PNMAL1|protein_coding|CODING|NM_001103149.1|2|1)","K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,K562:Znf263,H1ESC:H3K4me3,HUVEC:DNase1,K562:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2",,,,0.1728,0.1988,0.2475,0.26,0.29,0.24,,,,,,,,,,,,,,,,
missense_variant,PNMAL2,MISSENSE,NM_020709.2:p.Ala599Ser/c.1795G>T,Gcc/Tcc,MODERATE,COSM3756975(3),0.0800719,0.0069,rs4803966,,,,,,chr19,46996928,46996928,C,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala599Ser/c.1795G>T|635|PNMAL2|protein_coding|CODING|NM_020709.2|1|1),intron_variant(MODIFIER|||c.358-12231G>T|137|PPP5D1|protein_coding|CODING|NM_001205281.1|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0307,0.1311,0.1551,0.12,0.10,0.14,,,,,,,,,,,,,,,,
missense_variant,PNMAL2,MISSENSE,NM_020709.2:p.Gly163Ser/c.487G>A,Ggt/Agt,MODERATE,COSM3756976(2),0.0824681,0.0069,rs4803967,0.43(T),0.923(D),0.55(N),-1.0684(T),,chr19,46998236,46998236,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly163Ser/c.487G>A|635|PNMAL2|protein_coding|CODING|NM_020709.2|1|1),intron_variant(MODIFIER|||c.358-13539G>A|137|PPP5D1|protein_coding|CODING|NM_001205281.1|3|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0307,0.1311,0.1551,0.15,0.12,0.16,,,1.000(P),1.33(T),0.0007(T),0.116,3.644613,2.93,2.93,0.491000,1.922000,1.437000,0.692000,0.014000,0.022000,9.5575
missense_variant,PRKD2,MISSENSE,NM_001079880.1:p.Val835Ala/c.2504T>C,gTg/gCg,MODERATE,COSM4132177(1),1,1,rs314665,1(T),"0.0,0.0(B,B)",-1.27(N),-0.9388(T),,chr19,47177913,47177913,A,G,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val835Ala/c.2504T>C|878|PRKD2|protein_coding|CODING|NM_001079880.1|19|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val835Ala/c.2504T>C|878|PRKD2|protein_coding|CODING|NM_001079881.1|19|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val678Ala/c.2033T>C|721|PRKD2|protein_coding|CODING|NM_001079882.1|17|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val835Ala/c.2504T>C|878|PRKD2|protein_coding|CODING|NM_016457.4|18|1),intron_variant(MODIFIER|||n.189-2484A>G||DACT3-AS1||NON_CODING|NR_040042.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000462(N),1.000(P),"-0.0,-0.0(T,T)",0.0000(T),0.092,0.574203,4.79,4.79,-0.119000,1.157000,3.958000,0.857000,0.979000,0.970000,12.4918
missense_variant,SLC1A5,MISSENSE,NM_005628.2:p.Val512Leu/c.1534G>C,Gtc/Ctc,MODERATE,,0.131789,0.001,rs3027961,1(T),"0.001,0.001,0.001(B,B,B)",0(N),-1.0686(T),,chr19,47278859,47278859,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val284Leu/c.850G>C|313|SLC1A5|protein_coding|CODING|NM_001145144.1|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val310Leu/c.928G>C|339|SLC1A5|protein_coding|CODING|NM_001145145.1|7|1),missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val512Leu/c.1534G>C|541|SLC1A5|protein_coding|CODING|NM_005628.2|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1503,0.1254,0.2306,0.23,0.17,0.26,,0.086045(N),1.000(P),"0.81,-0.02,-0.01(T,T,T)",0.0000(T),0.046,1.734189,4.58,-2.11,0.550000,-0.280000,-0.180000,0.339000,0.000000,0.000000,6.1016
synonymous_variant,SLC1A5,SILENT,NM_005628.2:p.Tyr276Tyr/c.828C>T,taC/taT,LOW,COSM3933096(2),0.334065,0.2629,rs2070246,,,,,,chr19,47282162,47282162,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr48Tyr/c.144C>T|313|SLC1A5|protein_coding|CODING|NM_001145144.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr74Tyr/c.222C>T|339|SLC1A5|protein_coding|CODING|NM_001145145.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr276Tyr/c.828C>T|541|SLC1A5|protein_coding|CODING|NM_005628.2|5|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.3078,0.4294,0.2177,0.28,0.43,0.21,,,,,,,,,,,,,,,,
missense_variant,AP2S1,MISSENSE,NM_001301078.1:p.Ile55Ser/c.164T>G,aTc/aGc,MODERATE,,0.590655,0.5952,rs312185,,,,,,chr19,47342867,47342867,A,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile55Ser/c.164T>G|156|AP2S1|protein_coding|CODING|NM_001301078.1|3|1),intron_variant(MODIFIER|||c.154-811T>G|104|AP2S1|protein_coding|CODING|NM_021575.3|2|1),intron_variant(MODIFIER|||c.202-32T>G|158|AP2S1|protein_coding|CODING|NM_001301076.1|2|1),intron_variant(MODIFIER|||c.160-32T>G|144|AP2S1|protein_coding|CODING|NM_001301081.1|2|1),intron_variant(MODIFIER|||c.154-32T>G|142|AP2S1|protein_coding|CODING|NM_004069.4|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.6239,0.4066,0.51,0.68,0.42,,,,,,,,,,,,,,,,
splice_acceptor_variant,C5AR1,protein_coding,NM_001736.3:c.4G>A,,HIGH,,0.969449,1,rs4467185,,0.003(B),0(N),-0.9702(T),C5AR1:1.00(1);,chr19,47823038,47823038,G,A,hom,"splice_acceptor_variant(HIGH|||c.4G>A|349|C5AR1|protein_coding|CODING|NM_001736.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.4-1G>A|349|C5AR1|protein_coding|CODING|NM_001736.3|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM12878:H3K36me3,NHEK:H3K27me3",,,,0.9755,0.9741,0.9742,0.97,0.94,0.98,,0.000023(U),1.000(P),1.22(T),0.0000(T),0.107,1.984001,3.83,1.67,0.471000,0.395000,0.166000,0.054000,0.342000,0.147000,5.9816
missense_variant,C5AR1,MISSENSE,NM_001736.3:p.Leu150Pro/c.449T>C,cTg/cCg,MODERATE,COSM4132195(1),0.988019,1,rs4804049,,,,,,chr19,47823484,47823484,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu150Pro/c.449T>C|349|C5AR1|protein_coding|CODING|NM_001736.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,NHEK:H3K27me3",,,,0.9775,0.9827,0.9751,0.99,1.00,0.98,,,,,,,,,,,,,,,,
missense_variant,C5AR1,MISSENSE,NM_001736.3:p.Arg279Ile/c.836G>T,aGa/aTa,MODERATE,,0.969449,1,rs11880097,0.48(T),0.029(B),1.135(L),-0.9229(T),,chr19,47823871,47823871,G,T,hom,missense_variant(MODERATE|MISSENSE|aGa/aTa|p.Arg279Ile/c.836G>T|349|C5AR1|protein_coding|CODING|NM_001736.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"GM12878:H3K36me3,NHEK:H3K27me3",,,,0.9755,0.9741,0.9742,0.97,0.94,0.98,,0.362011(U),1.000(P),-0.63(T),0.0000(T),0.142,0.926279,4.88,-9.75,-0.526000,-2.333000,-4.019000,0.007000,0.000000,0.000000,18.9973
synonymous_variant,DHX34,SILENT,NM_014681.5:p.Val278Val/c.834G>A,gtG/gtA,LOW,,0.109225,0.0942,rs2245046,,,,,,chr19,47858424,47858424,G,A,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val278Val/c.834G>A|1143|DHX34|protein_coding|CODING|NM_014681.5|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.045,0.121,0.0577,0.10,0.18,0.05,,,,,,,,,,,,,,,,
synonymous_variant,DHX34,SILENT,NM_014681.5:p.Pro518Pro/c.1554A>G,ccA/ccG,LOW,,0.121605,0.0942,rs2547390,,,,,,chr19,47865911,47865911,A,G,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro518Pro/c.1554A>G|1143|DHX34|protein_coding|CODING|NM_014681.5|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.045,0.121,0.0577,0.10,0.21,0.05,,,,,,,,,,,,,,,,
synonymous_variant,DHX34,SILENT,NM_014681.5:p.Leu802Leu/c.2406G>A,ctG/ctA,LOW,,0.121605,0.0942,rs2694558,,,,,,chr19,47879279,47879279,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu802Leu/c.2406G>A|1143|DHX34|protein_coding|CODING|NM_014681.5|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.045,0.121,0.0577,0.11,0.21,0.05,,,,,,,,,,,,,,,,
synonymous_variant,SLC8A2,SILENT,NM_015063.2:p.Ile89Ile/c.267C>T,atC/atT,LOW,,0.0621006,0.0655,rs12459087,,,,,,chr19,47969394,47969394,G,A,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile89Ile/c.267C>T|921|SLC8A2|protein_coding|CODING|NM_015063.2|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0951,0.0634,0.1054,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,ZNF541,MISSENSE,NM_001277075.1:p.Gly928Arg/c.2782G>A,Ggg/Agg,MODERATE,COSM4000808(2),0.148562,0.2202,rs12972658,0.05(D),"0.884,0.969(P,D)",0.895(L),-1.0924(T),,chr19,48042976,48042976,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly928Arg/c.2782G>A|1346|ZNF541|protein_coding|CODING|NM_001277075.1|6|1),"HUVEC:H3K27me3,CD4:H4K91ac,CD4:H2BK20ac,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1503,0.2349,0.1113,0.10,0.07,0.11,,0.073327(N),0.956(P),"1.39,1.39,1.39(T,T,T)",0.0001(T),0.802,3.650033,4.61,4.61,0.462000,2.389000,3.017000,0.227000,0.175000,0.058000,12.7774
synonymous_variant,ZNF541,SILENT,NM_001277075.1:p.Ala655Ala/c.1965G>A,gcG/gcA,LOW,COSM4132200(1),0.148562,0.2222,rs3826836,,,,-1.0097(T),,chr19,48047821,48047821,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala655Ala/c.1965G>A|1346|ZNF541|protein_coding|CODING|NM_001277075.1|3|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1503,0.2349,0.1093,0.10,0.07,0.11,,,1.000(P),,0.0000(T),.,-1.323084,5.12,-6.18,-0.397000,-1.763000,-1.373000,0.002000,0.000000,0.000000,2.9011
synonymous_variant,GLTSCR1,SILENT,NM_015711.3:p.Ala120Ala/c.360C>T,gcC/gcT,LOW,COSM3756985(2),0.339457,0.3254,rs4802382,,,,,,chr19,48182787,48182787,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala120Ala/c.360C>T|1560|GLTSCR1|protein_coding|CODING|NM_015711.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3067,0.3127,0.2485,,,,,,,,,,,,,,,,,,,
synonymous_variant,GLTSCR1,SILENT,NM_015711.3:p.Pro173Pro/c.519T>C,ccT/ccC,LOW,COSM3756986(6),0.816094,0.9593,rs2911006,,,,,,chr19,48182946,48182946,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro173Pro/c.519T>C|1560|GLTSCR1|protein_coding|CODING|NM_015711.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8047,0.7954,0.7227,,,,,,,,,,,,,,,,,,,
synonymous_variant,GLTSCR1,SILENT,NM_015711.3:p.Thr229Thr/c.687A>G,acA/acG,LOW,COSM3749525(11),0.816494,0.9593,rs2914438,,,,,,chr19,48183114,48183114,A,G,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr229Thr/c.687A>G|1560|GLTSCR1|protein_coding|CODING|NM_015711.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8057,0.7954,0.7227,0.81,0.84,0.79,,,,,,,,,,,,,,,,
synonymous_variant,GLTSCR1,SILENT,NM_015711.3:p.Ser448Ser/c.1344C>T,agC/agT,LOW,COSM3756987(1),0.346246,0.3214,rs1035938,,,,,,chr19,48183771,48183771,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser448Ser/c.1344C>T|1560|GLTSCR1|protein_coding|CODING|NM_015711.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.317,0.2545,0.29,0.39,0.25,,,,,,,,,,,,,,,,
missense_variant,GLTSCR1,MISSENSE,NM_015711.3:p.Pro683Ser/c.2047C>T,Ccc/Tcc,MODERATE,,0.346246,0.3214,rs3745762,0.2(T),0.007(B),0.805(L),-0.9158(T),,chr19,48184474,48184474,C,T,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro683Ser/c.2047C>T|1560|GLTSCR1|protein_coding|CODING|NM_015711.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3088,0.317,0.2545,0.23,0.32,0.19,,,1.000(P),1.58(T),0.0000(T),0.077,-0.869519,3.98,1.84,0.561000,1.012000,0.274000,0.253000,0.560000,0.017000,1.1554
missense_variant,GLTSCR1,MISSENSE,NM_015711.3:p.Thr1044Ala/c.3130A>G,Acc/Gcc,MODERATE,COSM4132202(1),0.301318,0.3185,rs13346368,0.76(T),0.0(B),0.695(N),-0.9436(T),,chr19,48198675,48198675,A,G,het,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr1044Ala/c.3130A>G|1560|GLTSCR1|protein_coding|CODING|NM_015711.3|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3078,0.2983,0.2525,0.26,0.28,0.25,,,1.000(P),1.51(T),0.0000(T),0.005,-0.099632,3.35,-3.15,0.260000,-0.371000,-0.351000,0.416000,0.168000,0.000000,5.3333
synonymous_variant,EHD2,SILENT,NM_014601.3:p.Leu379Leu/c.1137A>G,ctA/ctG,LOW,,0.498003,0.5605,rs7255434,,,,,,chr19,48244194,48244194,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu379Leu/c.1137A>G|543|EHD2|protein_coding|CODING|NM_014601.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.7076,0.5519,0.672,0.54,0.24,0.70,,,,,,,,,,,,,,,,
synonymous_variant,EHD2,SILENT,NM_014601.3:p.Glu504Glu/c.1512G>A,gaG/gaA,LOW,COSM3756990(6),0.452276,0.5536,rs3745758,,,,,,chr19,48244569,48244569,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu504Glu/c.1512G>A|543|EHD2|protein_coding|CODING|NM_014601.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6564,0.4885,0.5497,0.45,0.21,0.57,,,,,,,,,,,,,,,,
synonymous_variant,GLTSCR2,SILENT,NM_015710.4:p.Ala235Ala/c.705A>G,gcA/gcG,LOW,,,,rs1042558,,,,,,chr19,48255804,48255804,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala235Ala/c.705A>G|478|GLTSCR2|protein_coding|CODING|NM_015710.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.43,0.19,0.55,,,,,,,,,,,,,,,,
missense_variant,GLTSCR2,MISSENSE,NM_015710.4:p.Gln389Arg/c.1166A>G,cAg/cGg,MODERATE,COSM1559544(3),0.712859,0.5546,rs1804994,0.96(T),0.002(B),-1.7(N),-0.9788(T),,chr19,48258717,48258717,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln389Arg/c.1166A>G|478|GLTSCR2|protein_coding|CODING|NM_015710.4|9|1),upstream_gene_variant(MODIFIER||393|||SNORD23||NON_CODING|NR_003048.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7321,0.6888,0.6799,,,,,0.040398(N),1.000(P),1.09(T),0.0000(T),0.055,-1.166361,3.93,2.86,-0.231000,0.415000,0.153000,0.328000,0.815000,0.025000,6.8245
synonymous_variant,GLTSCR2,SILENT,NM_015710.4:p.Gly407Gly/c.1221G>A,ggG/ggA,LOW,COSM3766387(4),0.522764,0.5575,rs11083895,,,,,,chr19,48258772,48258772,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly407Gly/c.1221G>A|478|GLTSCR2|protein_coding|CODING|NM_015710.4|9|1),upstream_gene_variant(MODIFIER||338|||SNORD23||NON_CODING|NR_003048.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7065,0.5519,0.672,0.70,0.51,0.77,,,,,,,,,,,,,,,,
synonymous_variant,SULT2A1,SILENT,NM_003167.3:p.Phe30Phe/c.90T>C,ttT/ttC,LOW,,0.973842,1,rs11083907,,,,,,chr19,48389425,48389425,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe30Phe/c.90T>C|285|SULT2A1|protein_coding|CODING|NM_003167.3|1|1),"HepG2:H3K4me2,HUVEC:H3K27me3,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9813,0.998,0.98,0.93,1.00,,,,,,,,,,,,,,,,
missense_variant,BSPH1,MISSENSE,NM_001128326.2:p.Thr12Met/c.35C>T,aCg/aTg,MODERATE,COSM148678(5),0.185703,0.2004,rs60213124,0.11(T),0.096(B),0(N),-1.0630(T),,chr19,48495304,48495304,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr12Met/c.35C>T|132|BSPH1|protein_coding|CODING|NM_001128326.2|1|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2311,0.1643,0.1829,,,,,0.356014(U),1.000(P),0.97(T),0.0000(T),0.121,0.433325,1.71,-0.642,-0.310000,-0.066000,0.368000,0.002000,0.000000,0.001000,2.3933
synonymous_variant,BSPH1,SILENT,NM_001128326.2:p.Thr11Thr/c.33G>A,acG/acA,LOW,COSM148679(1),0.10603,0.1994,rs386431508,,,,,,chr19,48495306,48495306,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr11Thr/c.33G>A|132|BSPH1|protein_coding|CODING|NM_001128326.2|1|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1851,0.0648,0.0557,0.05,0.04,0.06,,,,,,,,,,,,,,,,
missense_variant,ELSPBP1,MISSENSE,NM_022142.4:p.Glu199Lys/c.595G>A,Gaa/Aaa,MODERATE,COSM1179786(2),0.685304,0.8671,rs2303690,1(T),0.014(B),0.57(N),-0.9314(T),,chr19,48525507,48525507,G,A,hom,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu199Lys/c.595G>A|223|ELSPBP1|protein_coding|CODING|NM_022142.4|6|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6176,0.719,0.5696,0.58,0.61,0.57,,0.016863(N),1.000(P),0.67(T),0.0000(T),0.044,-0.538579,3.66,1.54,-0.308000,0.108000,0.521000,0.012000,0.044000,0.439000,3.8049
missense_variant,PLA2G4C,MISSENSE,NM_001159322.1:p.Thr370Pro/c.1108A>C,Act/Cct,MODERATE,,0.117212,0.001,rs11564620,0.04(D),"0.548,0.347(P,B)",1.525(L),-0.9607(T),,chr19,48571072,48571072,T,G,het,"missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr370Pro/c.1108A>C|551|PLA2G4C|protein_coding|CODING|NM_001159322.1|13|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr360Pro/c.1078A>C|527|PLA2G4C|protein_coding|CODING|NM_001159323.1|13|1),missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr360Pro/c.1078A>C|541|PLA2G4C|protein_coding|CODING|NM_003706.2|13|1)",,,,,0.0818,0.0836,0.0964,0.14,0.22,0.10,,0.225379(U),1.000(P),"3.65,3.65(T,T)",0.0000(T),0.187,1.004762,2.78,1.72,0.172000,0.153000,1.636000,0.173000,0.035000,0.848000,4.2421
missense_variant,PLA2G4C,MISSENSE,NM_001159322.1:p.Ser213Pro/c.637T>C,Tct/Cct,MODERATE,,0.629193,0.8681,rs156631,0.59(T),0.0(B),-1.64(N),-1.0574(T),,chr19,48598823,48598823,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser213Pro/c.637T>C|551|PLA2G4C|protein_coding|CODING|NM_001159322.1|7|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser203Pro/c.607T>C|527|PLA2G4C|protein_coding|CODING|NM_001159323.1|7|1),missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser203Pro/c.607T>C|541|PLA2G4C|protein_coding|CODING|NM_003706.2|7|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3",,,,0.5286,0.5014,0.3797,0.49,0.71,0.37,,0.001211(N),1.000(P),"3.7,3.7(T,T)",0.0000(T),0.101,-1.436880,3.31,2.22,-0.971000,0.506000,0.859000,0.483000,0.765000,0.974000,6.3932
synonymous_variant,PLA2G4C,SILENT,NM_001159322.1:p.Pro180Pro/c.540A>G,ccA/ccG,LOW,,0.663938,0.7411,rs251684,,,,,,chr19,48601454,48601454,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro180Pro/c.540A>G|551|PLA2G4C|protein_coding|CODING|NM_001159322.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro170Pro/c.510A>G|527|PLA2G4C|protein_coding|CODING|NM_001159323.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro170Pro/c.510A>G|541|PLA2G4C|protein_coding|CODING|NM_003706.2|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,GM06990:H3K36me3",,,,0.5828,0.6441,0.6083,0.65,0.70,0.63,,,,,,,,,,,,,,,,
missense_variant,PLA2G4C,MISSENSE,NM_001159322.1:p.Ile153Val/c.457A>G,Atc/Gtc,MODERATE,,0.378794,0.6171,rs2303744,1(T),"0.003,0.005(B,B)",-0.945(N),-0.9453(T),,chr19,48602948,48602948,T,C,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile153Val/c.457A>G|551|PLA2G4C|protein_coding|CODING|NM_001159322.1|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile143Val/c.427A>G|527|PLA2G4C|protein_coding|CODING|NM_001159323.1|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile143Val/c.427A>G|541|PLA2G4C|protein_coding|CODING|NM_003706.2|5|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.3425,0.2939,0.1889,0.27,0.38,0.22,,0.328836(N),1.000(P),"2.56,2.56(T,T)",0.0000(T),0.024,-0.688533,3.17,2.1,-0.526000,0.425000,1.235000,0.774000,0.020000,0.281000,6.2791
synonymous_variant,C19orf68,SILENT,NM_199341.3:p.Leu214Leu/c.640C>T,Ctg/Ttg,LOW,,0.446685,0.3185,rs12973411,,,,,,chr19,48697961,48697961,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu214Leu/c.640C>T|920|C19orf68|protein_coding|CODING|NM_199341.3|4|1),"NHEK:CTCF,H1ESC:H3K36me3,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HepG2:CTCF,H1ESC:CTCF",,,,0.4642,0.4928,0.4294,,,,,,,,,,,,,,,,,,,
synonymous_variant,CARD8,SILENT,NM_001184900.1:p.Gln476Gln/c.1428A>G,caA/caG,LOW,COSM1394998(1),0.388978,0.2282,rs3745718,,,,,,chr19,48715153,48715153,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln476Gln/c.1428A>G|537|CARD8|protein_coding|CODING|NM_001184900.1|11|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln426Gln/c.1278A>G|487|CARD8|protein_coding|CODING|NM_001184901.1|11|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln426Gln/c.1278A>G|487|CARD8|protein_coding|CODING|NM_014959.3|12|1),3_prime_UTR_variant(MODIFIER||3471|c.*107A>G|392|CARD8|protein_coding|CODING|NM_001184902.1|13|1),3_prime_UTR_variant(MODIFIER||3471|c.*107A>G|392|CARD8|protein_coding|CODING|NM_001184903.1|11|1),non_coding_exon_variant(MODIFIER|||n.1388A>G||CARD8||CODING|NR_033678.1|10|1),non_coding_exon_variant(MODIFIER|||n.1430A>G||CARD8||CODING|NR_033679.1|10|1),non_coding_exon_variant(MODIFIER|||n.1246A>G||CARD8||CODING|NR_033680.1|9|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.5337,0.5533,0.5199,0.46,0.27,0.56,,,,,,,,,,,,,,,,
synonymous_variant,CARD8,SILENT,NM_001184900.1:p.Glu417Glu/c.1251G>A,gaG/gaA,LOW,,0.259585,0.1766,rs10500299,,,,,,chr19,48722180,48722180,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu417Glu/c.1251G>A|537|CARD8|protein_coding|CODING|NM_001184900.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu367Glu/c.1101G>A|487|CARD8|protein_coding|CODING|NM_001184901.1|9|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu367Glu/c.1101G>A|487|CARD8|protein_coding|CODING|NM_014959.3|10|1),intron_variant(MODIFIER|||c.1161+2807G>A|392|CARD8|protein_coding|CODING|NM_001184902.1|11|1),intron_variant(MODIFIER|||c.1161+2807G>A|392|CARD8|protein_coding|CODING|NM_001184903.1|9|1),intron_variant(MODIFIER|||n.1121+2807G>A||CARD8||CODING|NR_033680.1|7|1),non_coding_exon_variant(MODIFIER|||n.1211G>A||CARD8||CODING|NR_033678.1|8|1),non_coding_exon_variant(MODIFIER|||n.1253G>A||CARD8||CODING|NR_033679.1|8|1)","HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HepG2:H3K36me3,HUVEC:H3K27ac,GM06990:H3K36me3",,,,0.3701,0.3487,0.2465,0.26,0.21,0.28,,,,,,,,,,,,,,,,
synonymous_variant,CARD8,SILENT,NM_001184900.1:p.Leu82Leu/c.246T>C,ctT/ctC,LOW,COSM3990138(1),0.269369,0.1944,rs2288876,,,,,,chr19,48737764,48737764,A,G,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu82Leu/c.246T>C|537|CARD8|protein_coding|CODING|NM_001184900.1|3|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu32Leu/c.96T>C|487|CARD8|protein_coding|CODING|NM_001184901.1|3|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu82Leu/c.246T>C|392|CARD8|protein_coding|CODING|NM_001184902.1|6|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu82Leu/c.246T>C|392|CARD8|protein_coding|CODING|NM_001184903.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu32Leu/c.96T>C|487|CARD8|protein_coding|CODING|NM_014959.3|4|1),non_coding_exon_variant(MODIFIER|||n.250T>C||CARD8||CODING|NR_033678.1|3|1),non_coding_exon_variant(MODIFIER|||n.289T>C||CARD8||CODING|NR_033679.1|3|1),non_coding_exon_variant(MODIFIER|||n.250T>C||CARD8||CODING|NR_033680.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3517,0.3674,0.2932,0.29,0.22,0.33,,,,,,,,,,,,,,,,
missense_variant,CCDC114,MISSENSE,NM_144577.3:p.Ser638Leu/c.1913C>T,tCg/tTg,MODERATE,,0.0423323,0.0258,rs74925056,0.09(T),0.008(B),0.55(N),-1.0106(T),,chr19,48800333,48800333,G,A,hom,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser638Leu/c.1913C>T|670|CCDC114|protein_coding|CODING|NM_144577.3|14|1),"HepG2:USF1,K562:USF1",,,,0.0297,0.0288,0.0278,0.05,0.08,0.04,,,1.000(N),2.1(T),0.0019(T),0.064,1.128096,3.92,0.473,-0.150000,0.050000,0.421000,0.001000,0.000000,0.001000,6.1129
synonymous_variant,TMEM143,SILENT,NM_018273.2:p.Ser104Ser/c.312G>A,tcG/tcA,LOW,COSM1163604(3),0.538538,0.6052,rs438767,,,,,,chr19,48863386,48863386,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser104Ser/c.312G>A|459|TMEM143|protein_coding|CODING|NM_018273.2|3|1),"K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5951,0.6614,0.5924,0.53,0.37,0.61,,,,,,,,,,,,,,,,
synonymous_variant,GRIN2D,SILENT,NM_000836.2:p.Ala899Ala/c.2697T>C,gcT/gcC,LOW,COSM4132217(6),0.747204,0.6548,rs62130268,,,,,,chr19,48945880,48945880,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala899Ala/c.2697T>C|1336|GRIN2D|protein_coding|CODING|NM_000836.2|13|1),"HUVEC:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.7945,0.8545,0.8887,0.89,0.79,0.95,,,,,,,,,,,,,,,,
synonymous_variant,GRIN2D,SILENT,NM_000836.2:p.Leu1048Leu/c.3142T>C,Ttg/Ctg,LOW,COSM4132218(4),0.723642,0.619,rs111420822,,,,,,chr19,48946325,48946325,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1048Leu/c.3142T>C|1336|GRIN2D|protein_coding|CODING|NM_000836.2|13|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,CD4:PolII,HSMM:H3K27me3",,,,0.7935,0.8372,0.8887,,,,,,,,,,,,,,,,,,,
synonymous_variant,GRIN2D,SILENT,NM_000836.2:p.Pro1074Pro/c.3222A>G,ccA/ccG,LOW,COSM4132219(3),0.728634,0.619,rs112893228,,,,,,chr19,48946405,48946405,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro1074Pro/c.3222A>G|1336|GRIN2D|protein_coding|CODING|NM_000836.2|13|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,CD4:PolII",,,,0.7935,0.8401,0.8887,,,,,,,,,,,,,,,,,,,
synonymous_variant,GRWD1,SILENT,NM_031485.3:p.Arg8Arg/c.24G>T,cgG/cgT,LOW,,0.720248,0.6131,rs1643487,,,,,,chr19,48949286,48949286,G,T,hom,"synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg8Arg/c.24G>T|446|GRWD1|protein_coding|CODING|NM_031485.3|1|1),downstream_gene_variant(MODIFIER||1098||1336|GRIN2D|protein_coding|CODING|NM_000836.2||1)","GM12878:Cmyc,H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,CD4:CBP,K562:Max,HeLa-S3:Cmyc,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,HMEC:H3K9ac,K562:ETS1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,GM12878:ETS1,K562:H3K36me3,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:SIX5,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,K562:Yy1,HUVEC:FAIRE,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,HeLa-S3:E2F1,GM12878:Max,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,K562:E2F4,GM12878:Sin3Ak20",,,,0.7945,0.817,0.8847,0.82,0.63,0.91,,,,,,,,,,,,,,,,
synonymous_variant,SULT2B1,SILENT,NM_177973.1:p.Cys278Cys/c.834C>T,tgC/tgT,LOW,COSM439906(2),0.36222,0.2609,rs1132054,,,,,,chr19,49102399,49102399,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys263Cys/c.789C>T|350|SULT2B1|protein_coding|CODING|NM_004605.2|6|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys278Cys/c.834C>T|365|SULT2B1|protein_coding|CODING|NM_177973.1|7|1),downstream_gene_variant(MODIFIER||1458||478|FAM83E|protein_coding|CODING|NM_017708.3||1)","H1ESC:DNase1,K562:Znf263,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4714,0.4222,0.5149,0.45,0.26,0.56,,,,,,,,,,,,,,,,
synonymous_variant,FAM83E,SILENT,NM_017708.3:p.Phe25Phe/c.75T>C,ttT/ttC,LOW,COSM439910(5),0.886981,0.997,rs368654,,,,,,chr19,49116555,49116555,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe25Phe/c.75T>C|478|FAM83E|protein_coding|CODING|NM_017708.3|1|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,GM06990:H3K36me3",,,,0.8476,0.8401,0.7137,0.79,0.95,0.72,,,,,,,,,,,,,,,,
missense_variant,SPHK2,MISSENSE,NM_001204159.2:p.His483Tyr/c.1447C>T,Cac/Tac,MODERATE,,,,,0.65(T),"0.009,0.018,0.012(B,B,B)",0(N),-1.0058(T),,chr19,49132512,49132512,C,T,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His424Tyr/c.1270C>T|595|SPHK2|protein_coding|CODING|NM_001204158.2|7|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His483Tyr/c.1447C>T|654|SPHK2|protein_coding|CODING|NM_001204159.2|7|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His447Tyr/c.1339C>T|618|SPHK2|protein_coding|CODING|NM_001204160.2|6|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His277Tyr/c.829C>T|448|SPHK2|protein_coding|CODING|NM_001243876.1|6|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His483Tyr/c.1447C>T|654|SPHK2|protein_coding|CODING|NM_020126.4|7|1),downstream_gene_variant(MODIFIER||1305||325|DBP|protein_coding|CODING|NM_001352.4||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.093078(N),1.000(N),"2.28,1.97,1.92(T,T,T)",0.0281(T),0.091,-0.258759,4.27,3.23,0.561000,1.102000,0.170000,0.475000,0.003000,0.000000,10.5115
synonymous_variant,NTN5,SILENT,NM_145807.1:p.Ser484Ser/c.1452T>C,agT/agC,LOW,COSM3766397(3),0.532947,0.5625,rs281392,,,,,,chr19,49164952,49164952,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser484Ser/c.1452T>C|489|NTN5|protein_coding|CODING|NM_145807.1|7|1),intron_variant(MODIFIER|||n.109-1502A>G||SEC1P||NON_CODING|NR_004401.2|1|1)","H1ESC:H3K27me3,H1ESC:DNase1,HeLa-S3:H3K27ac",,,,0.683,0.4669,0.6421,0.57,0.41,0.65,,,,,,,,,,,,,,,,
synonymous_variant,FUT2,SILENT,NM_000511.5:p.Ala68Ala/c.204A>G,gcA/gcG,LOW,COSM3757013(1),0.321685,0.004,rs492602,,,,,,chr19,49206417,49206417,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala68Ala/c.204A>G|343|FUT2|protein_coding|CODING|NM_000511.5|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala68Ala/c.204A>G|343|FUT2|protein_coding|CODING|NM_001097638.2|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3","Cholesterol_total,Vitamin_B12_levels",,,0.2832,0.3415,0.4414,0.49,0.50,0.49,,,,,,,,,,,,,,,,
synonymous_variant,FUT2,SILENT,NM_000511.5:p.Tyr83Tyr/c.249C>T,taC/taT,LOW,COSM1395087(2),0.321685,0.004,rs681343,,,,,,chr19,49206462,49206462,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr83Tyr/c.249C>T|343|FUT2|protein_coding|CODING|NM_000511.5|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr83Tyr/c.249C>T|343|FUT2|protein_coding|CODING|NM_001097638.2|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2832,0.3429,0.4404,0.49,0.50,0.49,,,,,,,,,,,,,,,,
stop_gained,FUT2,NONSENSE,NM_000511.5:p.Trp154*/c.461G>A,tGg/tAg,HIGH,COSM439920(3),0.321685,0.004,rs601338,1(T),,,,,chr19,49206674,49206674,G,A,het,"stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp154*/c.461G>A|343|FUT2|protein_coding|CODING|NM_000511.5|2|1),stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp154*/c.461G>A|343|FUT2|protein_coding|CODING|NM_001097638.2|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,RCV000013808.2|RCV000013809.22|RCV000013810.2,,0.2832,0.3415,0.4414,0.49,0.50,0.49,,,0.000(P),,,.,5.143978,4.81,4.81,0.549000,2.384000,4.260000,0.997000,1.000000,1.000000,15.7492
missense_variant,FUT2,MISSENSE,NM_000511.5:p.Gly258Ser/c.772G>A,Ggt/Agt,MODERATE,COSM3757014(1),0.328874,0.004,rs602662,,0.982(D),2.665(M),-1.3673(T),,chr19,49206985,49206985,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly258Ser/c.772G>A|343|FUT2|protein_coding|CODING|NM_000511.5|2|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly258Ser/c.772G>A|343|FUT2|protein_coding|CODING|NM_001097638.2|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3","Folate_pathway_vitamin_levels,Folate_pathway_vitamin_levels",,,0.2832,0.3516,0.4682,0.51,0.50,0.52,,,0.007(P),"-4.02,-4.02(D,D)",0.0000(T),0.491,2.905937,5.25,5.25,0.549000,2.615000,3.274000,0.012000,0.166000,0.998000,16.7225
synonymous_variant,FUT2,SILENT,NM_000511.5:p.Thr331Thr/c.993A>G,acA/acG,LOW,COSM3757015(1),0.330072,0.004,rs485186,,,,,,chr19,49207206,49207206,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr331Thr/c.993A>G|343|FUT2|protein_coding|CODING|NM_000511.5|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr331Thr/c.993A>G|343|FUT2|protein_coding|CODING|NM_001097638.2|2|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.2832,0.3501,0.4692,0.52,0.51,0.52,,,,,,,,,,,,,,,,
synonymous_variant,MAMSTR,SILENT,NM_001130915.1:p.Arg255Arg/c.765T>C,cgT/cgC,LOW,COSM4132238(1),0.79393,0.8621,rs281385,,,,,,chr19,49217261,49217261,A,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg255Arg/c.765T>C|415|MAMSTR|protein_coding|CODING|NM_001130915.1|8|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg87Arg/c.261T>C|247|MAMSTR|protein_coding|CODING|NM_001297753.1|5|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg152Arg/c.456T>C|312|MAMSTR|protein_coding|CODING|NM_182574.2|6|1)","NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,IMR90:H3K4me2,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,GM12878:ZEB1,HUVEC:H3K4me2,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.6493,0.8213,0.8628,0.84,0.76,0.87,,,,,,,,,,,,,,,,
synonymous_variant,MAMSTR,SILENT,NM_001130915.1:p.Pro160Pro/c.480C>A,ccC/ccA,LOW,,0.229633,0.0208,rs33988101,,,,,,chr19,49218111,49218111,G,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro160Pro/c.480C>A|415|MAMSTR|protein_coding|CODING|NM_001130915.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro57Pro/c.171C>A|247|MAMSTR|protein_coding|CODING|NM_001297753.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro57Pro/c.171C>A|312|MAMSTR|protein_coding|CODING|NM_182574.2|4|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2229,0.3098,0.492,0.42,0.22,0.53,,,,,,,,,,,,,,,,
synonymous_variant,MAMSTR,SILENT,NM_001130915.1:p.Pro147Pro/c.441C>T,ccC/ccT,LOW,,,,rs368110114,,,,,,chr19,49218150,49218150,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro147Pro/c.441C>T|415|MAMSTR|protein_coding|CODING|NM_001130915.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro44Pro/c.132C>T|247|MAMSTR|protein_coding|CODING|NM_001297753.1|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro44Pro/c.132C>T|312|MAMSTR|protein_coding|CODING|NM_182574.2|4|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,MAMSTR,SILENT,NM_001130915.1:p.Ala114Ala/c.342G>A,gcG/gcA,LOW,COSM3757017(2),0.238019,0.0208,rs12979278,,,,,,chr19,49218602,49218602,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala114Ala/c.342G>A|415|MAMSTR|protein_coding|CODING|NM_001130915.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala11Ala/c.33G>A|247|MAMSTR|protein_coding|CODING|NM_001297753.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala11Ala/c.33G>A|312|MAMSTR|protein_coding|CODING|NM_182574.2|3|1)","HepG2:H3K4me2,HepG2:H3K27ac,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2",,,,0.2229,0.3141,0.4911,0.45,0.27,0.54,,,,,,,,,,,,,,,,
missense_variant,RASIP1,MISSENSE,NM_017805.2:p.Arg601Cys/c.1801C>T,Cgc/Tgc,MODERATE,,0.214856,0.0198,rs2287922,0.02(D),0.756(P),1.24(L),-0.9045(T),,chr19,49232226,49232226,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg601Cys/c.1801C>T|963|RASIP1|protein_coding|CODING|NM_017805.2|5|1),"NHEK:CTCF,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HeLa-S3:CTCF,HMEC:H3K27me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,IMR90:H3K27me3,HeLa-S3:H3K4me3,HeLa-S3:E2F1,H1ESC:CTCF",,,,0.2178,0.2997,0.4791,0.34,0.15,0.44,,0.042644(N),0.001(P),1.66(T),0.0000(T),0.225,3.350878,4.17,4.17,0.462000,2.023000,3.181000,0.642000,1.000000,1.000000,9.7493
synonymous_variant,FGF21,SILENT,NM_019113.2:p.Gly12Gly/c.36A>G,ggA/ggG,LOW,,0.771765,0.994,rs838133,,,,,,chr19,49259529,49259529,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly12Gly/c.36A>G|209|FGF21|protein_coding|CODING|NM_019113.2|1|1),upstream_gene_variant(MODIFIER||882||365|FUT1|protein_coding|CODING|NM_000148.3||1)","H1ESC:H3K27me3,IMR90:H3K27me3","Homocysteine_levels,Dietary_macronutrient_intake",,,0.8067,0.7478,0.5746,0.61,0.70,0.56,,,,,,,,,,,,,,,,
missense_variant,FGF21,MISSENSE,NM_019113.2:p.Leu174Pro/c.521T>C,cTc/cCc,MODERATE,COSM439925(4),0.85643,1,rs739320,0.2(T),0.0(B),-0.695(N),-1.0117(T),,chr19,49261368,49261368,T,C,het,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu174Pro/c.521T>C|209|FGF21|protein_coding|CODING|NM_019113.2|3|1),"HepG2:HNF4A,IMR90:H3K27me3",,,,0.8323,0.817,0.6322,0.70,0.89,0.60,,0.507056(N),1.000(P),-1.52(D),0.0000(T),0.079,0.500441,4.44,0.608,-0.282000,0.133000,-0.747000,0.004000,0.002000,0.000000,3.5538
missense_variant,BCAT2,MISSENSE,NM_001190.3:p.Thr186Arg/c.557C>G,aCg/aGg,MODERATE,COSM3757018(3),0.0708866,0,rs11548193,0.53(T),"0.099,0.099,0.026,0.099(B,B,B,B)",1.185(L),-0.9707(T),,chr19,49303070,49303070,G,C,het,"missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr94Arg/c.281C>G|300|BCAT2|protein_coding|CODING|NM_001164773.1|4|1),missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr186Arg/c.557C>G|392|BCAT2|protein_coding|CODING|NM_001190.3|6|1),missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr146Arg/c.437C>G|352|BCAT2|protein_coding|CODING|NM_001284325.1|7|1)","GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0552,0.1037,0.2177,0.15,0.04,0.20,,0.540689(N),1.000(P),"2.33,2.33,2.33(T,T,T)",0.0000(T),0.219,0.855676,4.24,1.97,0.561000,0.502000,1.033000,0.003000,0.001000,0.001000,12.1372
missense_variant,BCAT2,MISSENSE,NM_001190.3:p.Gln100Glu/c.298C>G,Cag/Gag,MODERATE,,0.00599042,0,rs117048185,1(T),"0.021,0.021(B,B)",-0.515(N),-1.0522(T),,chr19,49309776,49309776,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln100Glu/c.298C>G|392|BCAT2|protein_coding|CODING|NM_001190.3|3|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln60Glu/c.178C>G|352|BCAT2|protein_coding|CODING|NM_001284325.1|4|1),splice_region_variant(LOW|||c.298C>G|392|BCAT2|protein_coding|CODING|NM_001190.3|3|1),splice_region_variant(LOW|||c.178C>G|352|BCAT2|protein_coding|CODING|NM_001284325.1|4|1),intron_variant(MODIFIER|||c.24+4465C>G|300|BCAT2|protein_coding|CODING|NM_001164773.1|1|1)","GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.001,0.0072,0.0229,0.01,0.00,0.01,,0.000001(D),1.000(D),"1.53,1.53(T,T)",0.0143(T),0.052,-0.486562,5.26,5.26,0.555000,2.627000,2.479000,0.499000,1.000000,0.995000,12.4651
synonymous_variant,HSD17B14,SILENT,NM_016246.2:p.Glu101Glu/c.303G>A,gaG/gaA,LOW,,0.0656949,0,rs62127966,,,,,,chr19,49334991,49334991,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu101Glu/c.303G>A|270|HSD17B14|protein_coding|CODING|NM_016246.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3",,,,0.0481,0.0951,0.2048,0.15,0.04,0.20,,,,,,,,,,,,,,,,
synonymous_variant,PLEKHA4,SILENT,NM_020904.2:p.Thr137Thr/c.411C>G,acC/acG,LOW,,0.0123802,0,rs33993078,,,,,,chr19,49363672,49363672,G,C,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr137Thr/c.411C>G|583|PLEKHA4|protein_coding|CODING|NM_001161354.1|6|1),synonymous_variant(LOW|SILENT|acC/acG|p.Thr137Thr/c.411C>G|779|PLEKHA4|protein_coding|CODING|NM_020904.2|6|1)","H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,K562:H3K27ac,HUVEC:H3K36me3,K562:Cfos,K562:Cmyc,IMR90:H3K36me3,K562:Cjun,K562:H3K9ac,HepG2:H3K36me3,K562:H3K4me2,GM06990:DNase1,K562:DNase1",,,,0.0286,0.0144,0.0229,0.02,0.00,0.03,,,,,,,,,,,,,,,,
missense_variant,NUCB1,MISSENSE,NM_006184.5:p.Arg87Gln/c.260G>A,cGa/cAa,MODERATE,,0.00599042,0,rs111959800,,,0.04(N),-0.9805(T),,chr19,49409026,49409026,G,A,het,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg87Gln/c.260G>A|461|NUCB1|protein_coding|CODING|NM_006184.5|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0072,0.0199,0.02,0.01,0.03,,,0.963(N),,0.0062(T),.,1.993419,4.67,3.62,0.478000,1.075000,3.944000,0.905000,0.996000,1.000000,6.9042
missense_variant,DHDH,MISSENSE,NM_014475.3:p.Ser66Asn/c.197G>A,aGc/aAc,MODERATE,COSM439936(3),0.511382,0.5456,rs2270941,1(T),0.001(B),-1.09(N),-0.9679(T),,chr19,49438363,49438363,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser66Asn/c.197G>A|334|DHDH|protein_coding|CODING|NM_014475.3|2|1),"K562:CTCF,H1ESC:H3K27me3,HepG2:CTCF,HepG2:H3K27me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF",,,,0.4141,0.4308,0.2535,0.38,0.70,0.21,,0.000502(N),1.000(P),"2.01,2.01,2.01(T,T,T)",0.0000(T),0.021,0.922187,4.74,4.74,-0.556000,0.951000,4.951000,0.680000,0.282000,0.322000,8.936
stop_gained,DHDH,NONSENSE,NM_014475.3:p.Gln233*/c.697C>T,Cag/Tag,HIGH,,0.0551118,0.0506,rs10423255,1(T),,,,DHDH:1.00(1);DHDH:1.00(1);,chr19,49445774,49445774,C,T,het,stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln233*/c.697C>T|334|DHDH|protein_coding|CODING|NM_014475.3|5|1),"K562:H3K36me3,NHEK:H3K36me3",,,,0.0429,0.0461,0.0606,0.06,0.06,0.06,,0.080029(N),0.000(P),,,.,1.240374,4.3,-8.61,0.484000,-3.996000,-4.283000,0.256000,0.000000,0.000000,14.3564
missense_variant,DHDH,MISSENSE,NM_014475.3:p.Gly282Arg/c.844G>A,Ggg/Agg,MODERATE,COSM4000814(1),0.0740815,0.0506,rs3765148,0.12(T),0.871(P),1.82(L),-1.1066(T),,chr19,49447713,49447713,G,A,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly282Arg/c.844G>A|334|DHDH|protein_coding|CODING|NM_014475.3|6|1),K562:H3K36me3,,,,0.046,0.0663,0.0636,0.08,0.10,0.06,,0.007503(N),1.000(P),"1.95,1.95(T,T)",0.0017(T),0.075,2.699163,5.03,0.0863,-0.320000,0.380000,0.960000,0.020000,0.000000,0.021000,2.9488
synonymous_variant,FTL,SILENT,NM_000146.3:p.Leu55Leu/c.163T>C,Ttg/Ctg,LOW,COSM3757030(2),0.460663,0.4246,rs2230267,,,,,,chr19,49469087,49469087,T,C,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu55Leu/c.163T>C|175|FTL|protein_coding|CODING|NM_000146.3|2|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,NHEK:PolII,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,NH-A:H3K36me3,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:ETS1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:SIX5,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,IMR90:H4K20me1,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,K562:SIX5,GM06990:H3K4me3,HepG2:HEY1,H1ESC:SIX5,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,IMR90:H3K36me3,HUVEC:Cmyc,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.3558,0.5,0.5398,0.52,0.47,0.54,,,,,,,,,,,,,,,,
synonymous_variant,GYS1,SILENT,NM_002103.4:p.Phe342Phe/c.1026C>T,ttC/ttT,LOW,,0.254593,0.2183,rs5464,,,,-0.9377(T),,chr19,49485548,49485548,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe278Phe/c.834C>T|673|GYS1|protein_coding|CODING|NM_001161587.1|6|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe342Phe/c.1026C>T|737|GYS1|protein_coding|CODING|NM_002103.4|7|1),non_coding_exon_variant(MODIFIER|||n.1085C>T||GYS1||CODING|NR_027763.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1953,0.2608,0.2922,0.29,0.28,0.29,,,0.000(P),1.74(T),0.0000(T),.,1.922336,5.21,4.16,0.650000,2.613000,1.703000,0.948000,1.000000,1.000000,8.5832
synonymous_variant,RUVBL2,SILENT,NM_006666.1:p.Leu205Leu/c.613C>T,Ctg/Ttg,LOW,COSM3766401(2),0.389377,0.3899,rs1062708,,,,,,chr19,49513273,49513273,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu205Leu/c.613C>T|463|RUVBL2|protein_coding|CODING|NM_006666.1|8|1),downstream_gene_variant(MODIFIER||44|||MIR6798||NON_CODING|NR_106856.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4601,0.4798,0.503,0.40,0.22,0.48,,,,,,,,,,,,,,,,
synonymous_variant,LHB,SILENT,NM_000894.2:p.Gly95Gly/c.285T>C,ggT/ggC,LOW,,0.587061,0.3383,rs1056917,,,,,,chr19,49519466,49519466,A,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly95Gly/c.285T>C|141|LHB|protein_coding|CODING|NM_000894.2|3|1),downstream_gene_variant(MODIFIER||284||463|RUVBL2|protein_coding|CODING|NM_006666.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5542,0.6484,0.6262,0.65,0.72,0.61,,,,,,,,,,,,,,,,
synonymous_variant,LHB,SILENT,NM_000894.2:p.Pro44Pro/c.132A>C,ccA/ccC,LOW,COSM4132246(1),0.51897,0.2798,rs1056914,,,,,,chr19,49519855,49519855,T,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro44Pro/c.132A>C|141|LHB|protein_coding|CODING|NM_000894.2|2|1),downstream_gene_variant(MODIFIER||673||463|RUVBL2|protein_coding|CODING|NM_006666.1||1),downstream_gene_variant(MODIFIER||1650|||LOC101059948||NON_CODING|NR_073552.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5102,0.5793,0.504,0.52,0.63,0.47,,,,,,,,,,,,,,,,
synonymous_variant,LHB,SILENT,NM_000894.2:p.Val38Val/c.114C>G,gtC/gtG,LOW,,0.493011,0.3343,rs6521,,,,,,chr19,49519873,49519873,G,C,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val38Val/c.114C>G|141|LHB|protein_coding|CODING|NM_000894.2|2|1),downstream_gene_variant(MODIFIER||691||463|RUVBL2|protein_coding|CODING|NM_006666.1||1),downstream_gene_variant(MODIFIER||1632|||LOC101059948||NON_CODING|NR_073552.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5307,0.6081,0.5835,0.51,0.44,0.54,,,,,,,,,,,,,,,,
missense_variant,KCNA7,MISSENSE,NM_031886.2:p.Met418Thr/c.1253T>C,aTg/aCg,MODERATE,COSM4000817(1),0.366014,0.3353,rs1017219,0.37(T),0.0(B),-1.65(N),-0.9978(T),,chr19,49573438,49573438,A,G,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met418Thr/c.1253T>C|456|KCNA7|protein_coding|CODING|NM_031886.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.319,0.3213,0.328,0.39,0.46,0.35,,0.741250(N),1.000(P),-4.39(D),0.0000(T),0.089,-0.675176,4.27,3.23,-0.362000,1.179000,0.606000,0.913000,0.994000,0.797000,11.6813
missense_variant,KCNA7,MISSENSE,NM_031886.2:p.Pro189Arg/c.566C>G,cCg/cGg,MODERATE,,0.367212,0.3323,rs1611775,0.57(T),0.001(B),0.345(N),-0.9423(T),,chr19,49574125,49574125,G,C,het,missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro189Arg/c.566C>G|456|KCNA7|protein_coding|CODING|NM_031886.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.32,0.3228,0.328,0.38,0.46,0.34,,0.072711(N),1.000(P),-4.42(D),0.0000(T),0.06,0.476006,4.54,3.5,-0.647000,0.477000,0.098000,0.528000,0.408000,0.001000,6.4921
synonymous_variant,SNRNP70,SILENT,NM_003089.5:p.Gly311Gly/c.933C>T,ggC/ggT,LOW,COSM439949(13),0.166933,0.0575,rs1058882,,,,,,chr19,49611319,49611319,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly311Gly/c.933C>T|437|SNRNP70|protein_coding|CODING|NM_003089.5|10|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly302Gly/c.906C>T|428|SNRNP70|protein_coding|CODING|NM_001301069.1|10|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3119,0.1499,0.2962,0.22,0.07,0.29,,,,,,,,,,,,,,,,
missense_variant,C19orf73,MISSENSE,NM_018111.2:p.Ser106Gly/c.316A>G,Agc/Ggc,MODERATE,COSM4000818(1),0.698482,0.5327,rs2232003,0(D),0.0(B),0(N),-1.0182(T),,chr19,49621964,49621964,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser106Gly/c.316A>G|129|C19orf73|protein_coding|CODING|NM_018111.2|1|1),upstream_gene_variant(MODIFIER||682||1194|PPFIA3|protein_coding|CODING|NM_003660.3||1),upstream_gene_variant(MODIFIER||682|||PPFIA3||CODING|NR_103842.1||1),downstream_gene_variant(MODIFIER||247||207|LIN7B|protein_coding|CODING|NM_022165.2||1)","NHEK:H3K9ac,CD4:H2AZ,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,K562:Nrsf,GM12878:DNase1,K562:HEY1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.682,0.6614,0.8022,0.78,0.75,0.80,,,1.000(P),0.59(T),0.0000(T),0.014,1.258363,3.81,0.441,-0.215000,-0.021000,-0.111000,0.171000,0.000000,0.000000,3.8698
missense_variant,PPFIA3,MISSENSE,NM_003660.3:p.Ala563Ser/c.1687G>T,Gcg/Tcg,MODERATE,COSM4132251(2),0.443291,0.2202,rs2303053,0.1(T),"0.015,0.003,0.002(B,B,B)",0.61(N),-0.9230(T),,chr19,49640002,49640002,G,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Tcg|p.Ala563Ser/c.1687G>T|1194|PPFIA3|protein_coding|CODING|NM_003660.3|15|1),non_coding_exon_variant(MODIFIER|||n.2036G>T||PPFIA3||CODING|NR_103842.1|15|1)","H1ESC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4959,0.4582,0.4493,0.49,0.55,0.46,,0.079487(U),0.138(P),0.88(T),0.0000(T),0.07,1.893553,3.31,1.15,0.542000,0.413000,1.031000,0.966000,0.432000,0.017000,8.6431
missense_variant,HRC,MISSENSE,NM_002152.2:p.Ser96Ala/c.286T>G,Tcc/Gcc,MODERATE,COSM4000822(1),0.350839,0.254,rs3745297,0.24(T),0.023(B),2.25(M),-0.9823(T),,chr19,49658209,49658209,A,C,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser96Ala/c.286T>G|699|HRC|protein_coding|CODING|NM_002152.2|1|1),"K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K27ac,K562:H3K4me1,H1ESC:H3K27me3,HepG2:PolII,K562:E2F6,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2",,,,0.4294,0.438,0.4085,0.39,0.29,0.43,,,1.000(P),3.29(T),0.0000(T),0.115,1.295323,2.83,0.693,-1.271000,0.069000,1.643000,0.010000,0.043000,0.347000,6.294
missense_variant,HRC,MISSENSE,NM_002152.2:p.Ser43Asn/c.128G>A,aGc/aAc,MODERATE,COSM4132253(1),0.471645,0.3105,rs3745298,1(T),0.0(B),-1.67(N),-0.9628(T),,chr19,49658367,49658367,C,T,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser43Asn/c.128G>A|699|HRC|protein_coding|CODING|NM_002152.2|1|1),"K562:Max,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K4me1,H1ESC:H3K27me3,HepG2:PolII,K562:Cmyc,K562:E2F6,NHEK:H3K27me3,K562:ELF1,HepG2:H3K4me3,K562:Yy1,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,K562:DNase1",,,,0.4806,0.5072,0.4274,0.49,0.57,0.45,,,1.000(P),3.21(T),0.0000(T),0.014,-2.383829,3.26,0.99,-0.361000,-0.153000,0.529000,0.023000,0.006000,0.633000,2.5446
synonymous_variant,HRC,SILENT,NM_002152.2:p.Leu35Leu/c.105A>G,ctA/ctG,LOW,,0.469249,0.2996,rs3745299,,,,,,chr19,49658390,49658390,T,C,het,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu35Leu/c.105A>G|699|HRC|protein_coding|CODING|NM_002152.2|1|1),"K562:Max,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HepG2:PolII,K562:Cmyc,K562:E2F6,NHEK:H3K27me3,K562:ELF1,HepG2:H3K4me3,K562:Yy1,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,K562:DNase1",,,,0.4836,0.4827,0.4095,0.48,0.58,0.43,,,,,,,,,,,,,,,,
synonymous_variant,CD37,SILENT,NM_001774.2:p.Ile38Ile/c.114T>C,atT/atC,LOW,COSM1751060(2),0.842851,0.8085,rs354021,,,,,,chr19,49839015,49839015,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile38Ile/c.114T>C|281|CD37|protein_coding|CODING|NM_001774.2|2|1),5_prime_UTR_variant(MODIFIER||1213|c.-91T>C|213|CD37|protein_coding|CODING|NM_001040031.1|2|1)","CD4:H2AZ,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H3K27ac,GM12878:ELF1,GM12878:Yy1,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,GM12878:H3K9ac,GM12878:DNase1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1",,,,0.8057,0.8631,0.7465,0.81,0.93,0.76,,,,,,,,,,,,,,,,
missense_variant,DKKL1,MISSENSE,NM_014419.3:p.Ala29Thr/c.85G>A,Gct/Act,MODERATE,,0.259585,0.1766,rs919364,1(T),0.001(B),-0.69(N),-0.9383(T),,chr19,49867913,49867913,G,A,het,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala29Thr/c.85G>A|211|DKKL1|protein_coding|CODING|NM_001197301.1|2|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala29Thr/c.85G>A|242|DKKL1|protein_coding|CODING|NM_014419.3|2|1),5_prime_UTR_variant(MODIFIER||895|c.-141G>A|167|DKKL1|protein_coding|CODING|NM_001197302.1|2|1)","K562:H3K4me3,NHEK:H3K27me3",,,,0.2106,0.2104,0.3111,0.32,0.32,0.32,,0.686307(N),1.000(P),2.64(T),0.0000(T),0.014,0.423838,3.36,-0.557,-0.361000,-0.298000,-1.722000,0.832000,0.107000,0.000000,0.2643
synonymous_variant,CCDC155,SILENT,NM_144688.4:p.Pro4Pro/c.12C>T,ccC/ccT,LOW,,0.507788,0.5129,rs7256629,,,,,,chr19,49894152,49894152,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro4Pro/c.12C>T|562|CCDC155|protein_coding|CODING|NM_144688.4|2|1),"GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6585,0.3934,0.493,0.49,0.46,0.51,,,,,,,,,,,,,,,,
missense_variant,CCDC155,MISSENSE,NM_144688.4:p.Arg129Gln/c.386G>A,cGg/cAg,MODERATE,,0.529153,0.5119,rs10405154,0.85(T),"0.001,0.001(B,B)",-1.25(N),-0.9547(T),,chr19,49899076,49899076,G,A,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg129Gln/c.386G>A|562|CCDC155|protein_coding|CODING|NM_144688.4|5|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6779,0.451,0.5239,0.53,0.50,0.55,,0.551692(N),1.000(P),1.6(T),0.0000(T),0.006,0.062162,4.4,-8.35,-2.837000,-1.579000,-0.126000,0.905000,0.470000,0.983000,7.1989
synonymous_variant,CCDC155,SILENT,NM_144688.4:p.Leu183Leu/c.547T>C,Ttg/Ctg,LOW,,0.571885,0.5129,rs10421748,,,,,,chr19,49901318,49901318,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu183Leu/c.547T>C|562|CCDC155|protein_coding|CODING|NM_144688.4|7|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6779,0.4625,0.5239,0.57,0.61,0.55,,,,,,,,,,,,,,,,
missense_variant,GFY,MISSENSE,NM_001195256.1:p.Val345Ala/c.1034T>C,gTc/gCc,MODERATE,COSM4132256(1),0.728634,0.4236,rs4802605,,,,,,chr19,49930721,49930721,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val345Ala/c.1034T>C|518|GFY|protein_coding|CODING|NM_001195256.1|1|1),downstream_gene_variant(MODIFIER||1934||560|SLC17A7|protein_coding|CODING|NM_020309.3||1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7781,0.6758,0.7435,,,,,,,,,,,,,,,,,,,
missense_variant,PIH1D1,MISSENSE,NM_017916.2:p.Val224Ile/c.670G>A,Gtt/Att,MODERATE,COSM1751065(2),0.688898,0.4177,rs13394,1(T),0.002(B),-0.02(N),-0.9635(T),,chr19,49950298,49950298,C,T,het,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val224Ile/c.670G>A|290|PIH1D1|protein_coding|CODING|NM_017916.2|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.6441,0.7545,0.81,0.89,0.77,,0.000095(N),1.000(P),2.36(T),0.0000(T),0.027,-0.820476,4.76,2.67,-0.254000,0.425000,0.159000,0.592000,1.000000,0.974000,5.9494
missense_variant,PIH1D1,MISSENSE,NM_017916.2:p.Gly10Glu/c.29G>A,gGg/gAg,MODERATE,,0.608826,0.4117,rs2293013,1(T),0.0(B),-0.695(N),-0.9970(T),,chr19,49954803,49954803,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly10Glu/c.29G>A|290|PIH1D1|protein_coding|CODING|NM_017916.2|1|1),upstream_gene_variant(MODIFIER||1670||751|ALDH16A1|protein_coding|CODING|NM_001145396.1||1),upstream_gene_variant(MODIFIER||1670||802|ALDH16A1|protein_coding|CODING|NM_153329.3||1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,GM12878:EBF,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,IMR90:H4K8ac",,,,0.6084,0.6124,0.7535,0.72,0.62,0.77,,0.225304(N),1.000(P),2.94(T),0.0000(T),0.108,-1.474623,4.87,3.85,-0.430000,0.976000,1.388000,0.079000,0.225000,0.940000,7.6469
missense_variant,PIH1D1,MISSENSE,NM_017916.2:p.Met9Leu/c.25A>C,Atg/Ctg,MODERATE,,0.608826,0.4117,rs2293012,0.5(T),0.0(B),-0.345(N),-1.0267(T),,chr19,49954807,49954807,T,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Ctg|p.Met9Leu/c.25A>C|290|PIH1D1|protein_coding|CODING|NM_017916.2|1|1),upstream_gene_variant(MODIFIER||1666||751|ALDH16A1|protein_coding|CODING|NM_001145396.1||1),upstream_gene_variant(MODIFIER||1666||802|ALDH16A1|protein_coding|CODING|NM_153329.3||1)","NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,K562:E2F6,GM12878:EBF,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:H2AZ,IMR90:H4K8ac",,,,0.6084,0.6124,0.7535,0.72,0.62,0.77,,0.679642(N),1.000(P),2.87(T),0.0000(T),0.033,-1.325226,4.87,1.33,-0.225000,0.353000,0.400000,0.071000,0.144000,0.013000,2.806
missense_variant,ALDH16A1,MISSENSE,NM_153329.3:p.Leu227Val/c.679C>G,Ctc/Gtc,MODERATE,COSM1751066(1),0.510184,0.3214,rs1320303,1(T),"0.002,0.0,0.003(B,B,B)",-1.175(N),-0.9780(T),,chr19,49964977,49964977,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu227Val/c.679C>G|751|ALDH16A1|protein_coding|CODING|NM_001145396.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu227Val/c.679C>G|802|ALDH16A1|protein_coding|CODING|NM_153329.3|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5399,0.4222,0.7107,0.65,0.52,0.72,,0.761795(N),1.000(P),"1.93,1.93,1.93,1.93(T,T,T,T)",0.0000(T),0.052,-3.956990,4.61,-9.23,-0.343000,-2.738000,-3.278000,0.060000,0.184000,0.000000,13.2063
synonymous_variant,ALDH16A1,SILENT,NM_153329.3:p.Gly264Gly/c.792A>T,ggA/ggT,LOW,COSM3749532(10),0.300919,0.2817,rs7259560,,,,,,chr19,49965173,49965173,A,T,het,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly264Gly/c.792A>T|802|ALDH16A1|protein_coding|CODING|NM_153329.3|7|1),intron_variant(MODIFIER|||c.759+116A>T|751|ALDH16A1|protein_coding|CODING|NM_001145396.1|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4836,0.2061,0.4165,0.32,0.18,0.39,,,,,,,,,,,,,,,,
synonymous_variant,ALDH16A1,SILENT,NM_153329.3:p.Gln446Gln/c.1338G>A,caG/caA,LOW,COSM3766404(1),0.311502,0.3363,rs2293009,,,,,,chr19,49967680,49967680,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln395Gln/c.1185G>A|751|ALDH16A1|protein_coding|CODING|NM_001145396.1|10|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln446Gln/c.1338G>A|802|ALDH16A1|protein_coding|CODING|NM_153329.3|11|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4928,0.2219,0.4165,0.33,0.17,0.41,,,,,,,,,,,,,,,,
missense_variant,PRRG2,MISSENSE,NM_000951.2:p.Thr177Ser/c.529A>T,Acc/Tcc,MODERATE,,0.0371406,0.003,rs144521999,1(T),"0.98,0.978(D,D)",0.66(N),-0.1921(T),,chr19,50093248,50093248,A,T,het,"missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr177Ser/c.529A>T|202|PRRG2|protein_coding|CODING|NM_000951.2|6|1),upstream_gene_variant(MODIFIER||1664||2036|PRR12|protein_coding|CODING|NM_020719.1||1)","HeLa-S3:DNase1,CD4:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.0276,0.0548,0.1133,0.06,0.02,0.08,,0.000078(D),0.708(P),-4.0(D),0.0458(T),0.019,1.478535,4.75,3.65,0.374000,1.902000,2.130000,0.983000,1.000000,0.968000,7.2004
synonymous_variant,RRAS,SILENT,NM_006270.3:p.Asn111Asn/c.333C>T,aaC/aaT,LOW,COSM3757043(2),0.738219,0.8343,rs1865077,,,,,,chr19,50140092,50140092,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn111Asn/c.333C>T|218|RRAS|protein_coding|CODING|NM_006270.3|3|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5838,0.7954,0.6978,0.70,0.76,0.66,,,,,,,,,,,,,,,,
missense_variant,SCAF1,MISSENSE,NM_021228.2:p.Thr420Pro/c.1258A>C,Aca/Cca,MODERATE,COSM3757044(3),0.996805,1,rs7251334,,0.0(B),0(N),-1.0182(T),,chr19,50154904,50154904,A,C,het,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr420Pro/c.1258A>C|1312|SCAF1|protein_coding|CODING|NM_021228.2|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9939,0.9986,0.993,,,,,0.761924(N),1.000(P),1.41(T),0.0000(T),0.125,0.721709,2.81,1.65,-0.648000,0.415000,0.139000,0.005000,0.021000,0.053000,5.1642
synonymous_variant,SCAF1,SILENT,NM_021228.2:p.Leu1084Leu/c.3250T>C,Ttg/Ctg,LOW,COSM439987(1),0.970248,0.999,rs10401743,,,,,,chr19,50156896,50156896,T,C,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu1084Leu/c.3250T>C|1312|SCAF1|protein_coding|CODING|NM_021228.2|7|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9632,0.9597,0.9205,0.95,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,CPT1C,SILENT,NM_001199752.2:p.Ser215Ser/c.645G>A,tcG/tcA,LOW,COSM3766406(1),,,rs12973248,,,,,,chr19,50204843,50204843,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser215Ser/c.645G>A|792|CPT1C|protein_coding|CODING|NM_001136052.2|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser215Ser/c.645G>A|803|CPT1C|protein_coding|CODING|NM_001199752.2|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser215Ser/c.645G>A|803|CPT1C|protein_coding|CODING|NM_001199753.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser215Ser/c.645G>A|803|CPT1C|protein_coding|CODING|NM_152359.2|6|1),non_coding_exon_variant(MODIFIER|||n.1123G>A||CPT1C||CODING|NR_108072.1|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,,,,0.13,0.06,0.17,,,,,,,,,,,,,,,,
synonymous_variant,CPT1C,SILENT,NM_001199752.2:p.Ala442Ala/c.1326C>T,gcC/gcT,LOW,COSM3721343(1),0.0700879,0.001,rs12978911,,,,,,chr19,50209653,50209653,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala431Ala/c.1293C>T|792|CPT1C|protein_coding|CODING|NM_001136052.2|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala442Ala/c.1326C>T|803|CPT1C|protein_coding|CODING|NM_001199752.2|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala442Ala/c.1326C>T|803|CPT1C|protein_coding|CODING|NM_001199753.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala442Ala/c.1326C>T|803|CPT1C|protein_coding|CODING|NM_152359.2|11|1),non_coding_exon_variant(MODIFIER|||n.1804C>T||CPT1C||CODING|NR_108072.1|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.0358,0.0922,0.1889,0.13,0.06,0.16,,,,,,,,,,,,,,,,
missense_variant,TBC1D17,MISSENSE,NM_024682.2:p.Asp84Gly/c.251A>G,gAc/gGc,MODERATE,,1,1,rs8109661,0.62(T),"0.0,0.0(B,B)",-1.525(N),-0.9720(T),,chr19,50383591,50383591,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp51Gly/c.152A>G|615|TBC1D17|protein_coding|CODING|NM_001168222.1|3|1),missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp84Gly/c.251A>G|648|TBC1D17|protein_coding|CODING|NM_024682.2|4|1),upstream_gene_variant(MODIFIER||1978||256|AKT1S1|protein_coding|CODING|NM_001278160.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000083(N),0.998(P),"1.83,1.83(T,T)",0.0000(T),0.164,0.106997,5.21,4.17,-0.215000,0.598000,6.991000,0.541000,0.985000,1.000000,9.9151
synonymous_variant,IL4I1,SILENT,NM_001258017.1:p.Ile12Ile/c.36A>C,atA/atC,LOW,,0.289936,0.1062,rs1290754,,,,,,chr19,50404939,50404939,T,G,het,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile12Ile/c.36A>C|589|IL4I1|protein_coding|CODING|NM_001258017.1|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile12Ile/c.36A>C|589|IL4I1|protein_coding|CODING|NM_172374.2|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile12Ile/c.36A>C|589|IL4I1|protein_coding|CODING|NM_001258018.1|4|1),non_coding_exon_variant(MODIFIER|||n.599A>C||IL4I1||CODING|NR_047577.1|4|1)",,,,,0.5184,0.3818,0.4503,0.32,0.15,0.42,,,,,,,,,,,,,,,,
synonymous_variant,NUP62,SILENT,NM_001193357.1:p.Asp441Asp/c.1323T>C,gaT/gaC,LOW,,0.974042,1,rs892028,,,,,,chr19,50411742,50411742,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp441Asp/c.1323T>C|522|NUP62|protein_coding|CODING|NM_001193357.1|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp441Asp/c.1323T>C|522|NUP62|protein_coding|CODING|NM_012346.4|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp441Asp/c.1323T>C|522|NUP62|protein_coding|CODING|NM_016553.4|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp441Asp/c.1323T>C|522|NUP62|protein_coding|CODING|NM_153718.3|2|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp441Asp/c.1323T>C|522|NUP62|protein_coding|CODING|NM_153719.3|3|1),intron_variant(MODIFIER|||c.-227-4164T>C|589|IL4I1|protein_coding|CODING|NM_001258017.1|2|1),intron_variant(MODIFIER|||c.-285-4164T>C|589|IL4I1|protein_coding|CODING|NM_001258018.1|2|1),intron_variant(MODIFIER|||c.-227-4164T>C|589|IL4I1|protein_coding|CODING|NM_172374.2|2|1),intron_variant(MODIFIER|||n.337-4164T>C||IL4I1||CODING|NR_047577.1|2|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,RCV000117863.2,,0.953,0.9697,0.9384,0.95,0.98,0.93,,,,,,,,,,,,,,,,
missense_variant,NUP62,MISSENSE,NM_001193357.1:p.Ser283Thr/c.848G>C,aGc/aCc,MODERATE,COSM1325120(3),0.316294,0.3938,rs1062798,,0.0(B),0.345(N),-0.9266(T),,chr19,50412217,50412217,C,G,het,"missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser283Thr/c.848G>C|522|NUP62|protein_coding|CODING|NM_001193357.1|2|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser283Thr/c.848G>C|522|NUP62|protein_coding|CODING|NM_012346.4|2|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser283Thr/c.848G>C|522|NUP62|protein_coding|CODING|NM_016553.4|3|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser283Thr/c.848G>C|522|NUP62|protein_coding|CODING|NM_153718.3|2|1),missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser283Thr/c.848G>C|522|NUP62|protein_coding|CODING|NM_153719.3|3|1),intron_variant(MODIFIER|||c.-227-4639G>C|589|IL4I1|protein_coding|CODING|NM_001258017.1|2|1),intron_variant(MODIFIER|||c.-285-4639G>C|589|IL4I1|protein_coding|CODING|NM_001258018.1|2|1),intron_variant(MODIFIER|||c.-227-4639G>C|589|IL4I1|protein_coding|CODING|NM_172374.2|2|1),intron_variant(MODIFIER|||n.337-4639G>C||IL4I1||CODING|NR_047577.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000117866.2,,0.229,0.379,0.3827,0.32,0.23,0.36,,0.588508(N),1.000(P),"1.27,1.27,1.27(T,T,T)",0.0000(T),0.015,-1.533751,4.24,0.801,-1.162000,0.190000,1.221000,0.004000,0.000000,0.050000,13.4683
synonymous_variant,NUP62,SILENT,NM_001193357.1:p.Ser216Ser/c.648C>T,agC/agT,LOW,COSM3757052(2),0.860423,0.9544,rs999583,,,,,,chr19,50412417,50412417,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser216Ser/c.648C>T|522|NUP62|protein_coding|CODING|NM_001193357.1|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser216Ser/c.648C>T|522|NUP62|protein_coding|CODING|NM_012346.4|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser216Ser/c.648C>T|522|NUP62|protein_coding|CODING|NM_016553.4|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser216Ser/c.648C>T|522|NUP62|protein_coding|CODING|NM_153718.3|2|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser216Ser/c.648C>T|522|NUP62|protein_coding|CODING|NM_153719.3|3|1),intron_variant(MODIFIER|||c.-227-4839C>T|589|IL4I1|protein_coding|CODING|NM_001258017.1|2|1),intron_variant(MODIFIER|||c.-285-4839C>T|589|IL4I1|protein_coding|CODING|NM_001258018.1|2|1),intron_variant(MODIFIER|||c.-227-4839C>T|589|IL4I1|protein_coding|CODING|NM_172374.2|2|1),intron_variant(MODIFIER|||n.337-4839C>T||IL4I1||CODING|NR_047577.1|2|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117865.2,,0.774,0.8473,0.7783,0.81,0.90,0.76,,,,,,,,,,,,,,,,
synonymous_variant,ATF5,SILENT,NM_001193646.1:p.Leu83Leu/c.247T>C,Tta/Cta,LOW,,0.668131,0.7054,rs283525,,,,,,chr19,50435747,50435747,T,C,hom,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu83Leu/c.247T>C|282|ATF5|protein_coding|CODING|NM_001193646.1|3|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu83Leu/c.247T>C|282|ATF5|protein_coding|CODING|NM_001290746.1|3|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu83Leu/c.247T>C|282|ATF5|protein_coding|CODING|NM_012068.5|4|1),upstream_gene_variant(MODIFIER||574|||MIR4751||NON_CODING|NR_039906.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.6227,0.6268,0.6163,0.61,0.70,0.57,,,,,,,,,,,,,,,,
missense_variant,ATF5,MISSENSE,NM_001193646.1:p.Pro121Leu/c.362C>T,cCc/cTc,MODERATE,COSM440013(6),0.66853,0.6538,rs283526,0.71(T),0.0(B),-1.525(N),-1.0040(T),,chr19,50435862,50435862,C,T,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro121Leu/c.362C>T|282|ATF5|protein_coding|CODING|NM_001193646.1|3|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro121Leu/c.362C>T|282|ATF5|protein_coding|CODING|NM_001290746.1|3|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro121Leu/c.362C>T|282|ATF5|protein_coding|CODING|NM_012068.5|4|1),upstream_gene_variant(MODIFIER||459|||MIR4751||NON_CODING|NR_039906.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.5092,0.6412,0.5169,0.64,0.87,0.53,,0.597734(N),0.000(P),1.04(T),0.0000(T),0.079,-0.837221,2.87,2.87,-0.554000,0.499000,1.942000,0.323000,0.614000,0.985000,6.5705
synonymous_variant,IZUMO2,SILENT,NM_152358.2:p.Cys21Cys/c.63C>T,tgC/tgT,LOW,COSM440024(1),0.117212,0.0625,rs61742305,,,,,,chr19,50666389,50666389,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys21Cys/c.63C>T|221|IZUMO2|protein_coding|CODING|NM_152358.2|1|1),"H1ESC:DNase1,K562:E2F6",,,,0.1421,0.1643,0.2485,0.17,0.04,0.22,,,,,,,,,,,,,,,,
synonymous_variant,MYH14,SILENT,NM_001145809.1:p.Ala219Ala/c.657G>A,gcG/gcA,LOW,COSM1129753(3),0.472843,0.5804,rs4801822,,,,,,chr19,50726570,50726570,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala219Ala/c.657G>A|2003|MYH14|protein_coding|CODING|NM_001077186.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala219Ala/c.657G>A|2036|MYH14|protein_coding|CODING|NM_001145809.1|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala219Ala/c.657G>A|1995|MYH14|protein_coding|CODING|NM_024729.3|5|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,RCV000037055.1,,0.6299,0.4942,0.6123,0.49,0.23,0.63,,,,,,,,,,,,,,,,
synonymous_variant,MYH14,SILENT,NM_001145809.1:p.Arg735Arg/c.2205C>G,cgC/cgG,LOW,COSM440034(3),0.357827,0.374,rs378811,,,,,,chr19,50760716,50760716,C,G,het,"synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg702Arg/c.2106C>G|2003|MYH14|protein_coding|CODING|NM_001077186.1|17|1),synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg735Arg/c.2205C>G|2036|MYH14|protein_coding|CODING|NM_001145809.1|18|1),synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg694Arg/c.2082C>G|1995|MYH14|protein_coding|CODING|NM_024729.3|16|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,RCV000037031.1,,0.362,0.3026,0.4026,0.39,0.31,0.42,,,,,,,,,,,,,,,,
synonymous_variant,MYH14,SILENT,NM_001145809.1:p.Pro750Pro/c.2250A>G,ccA/ccG,LOW,COSM3722656(1),0.761182,0.8353,rs1651553,,,,,,chr19,50762418,50762418,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro717Pro/c.2151A>G|2003|MYH14|protein_coding|CODING|NM_001077186.1|18|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro750Pro/c.2250A>G|2036|MYH14|protein_coding|CODING|NM_001145809.1|19|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro709Pro/c.2127A>G|1995|MYH14|protein_coding|CODING|NM_024729.3|17|1)","HeLa-S3:DNase1,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,K562:CTCFL,K562:ELF1,K562:Rad21,HepG2:CTCF,GM12878:Rad21,HepG2:H3K36me3,HepG2:DNase1,HepG2:Rad21,GM06990:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,RCV000037032.1,,0.7822,0.7968,0.7624,0.74,0.71,0.75,,,,,,,,,,,,,,,,
synonymous_variant,MYH14,SILENT,NM_001145809.1:p.Leu1006Leu/c.3018G>A,ctG/ctA,LOW,COSM3757060(2),0.484425,0.3829,rs3745504,,,,,,chr19,50771609,50771609,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu973Leu/c.2919G>A|2003|MYH14|protein_coding|CODING|NM_001077186.1|23|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1006Leu/c.3018G>A|2036|MYH14|protein_coding|CODING|NM_001145809.1|24|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu965Leu/c.2895G>A|1995|MYH14|protein_coding|CODING|NM_024729.3|22|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,K562:Egr1,HepG2:H3K36me3",,RCV000037038.1,,0.4202,0.6873,0.5905,0.53,0.46,0.57,,,,,,,,,,,,,,,,
synonymous_variant,MYH14,SILENT,NM_001145809.1:p.Ser1810Ser/c.5430G>A,tcG/tcA,LOW,,0.682109,0.9276,rs3745509,,,,,,chr19,50796905,50796905,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1777Ser/c.5331G>A|2003|MYH14|protein_coding|CODING|NM_001077186.1|38|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1810Ser/c.5430G>A|2036|MYH14|protein_coding|CODING|NM_001145809.1|39|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser1769Ser/c.5307G>A|1995|MYH14|protein_coding|CODING|NM_024729.3|37|1)","H1ESC:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,RCV000037051.1,,0.7669,0.7709,0.7545,0.61,0.36,0.74,,,,,,,,,,,,,,,,
missense_variant,KCNC3,MISSENSE,NM_004977.2:p.Asp63Gly/c.188A>G,gAc/gGc,MODERATE,COSM4132308(2),,,rs375912738,0.46(T),0.0(B),0(N),0.0862(D),,chr19,50832152,50832152,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp63Gly/c.188A>G|757|KCNC3|protein_coding|CODING|NM_004977.2|1|1),intron_variant(MODIFIER|||n.47+4574A>G||KCNC3||CODING|NR_110912.1|1|1)","K562:Max,K562:H3K4me3,K562:PolII,H1ESC:H3K9ac,HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,HUVEC:DNase1,HSMM:DNase1,CD4:H3K79me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,GM12878:PolII,K562:Egr1,K562:Rad21,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:TAF1,HepG2:DNase1,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF",,,,,,,,,,,0.757437(N),0.000(P),"-4.52,-4.53(D,D)",0.7171(D),0.061,-0.773048,2.74,0.502,-1.347000,0.037000,-0.541000,0.366000,0.991000,0.003000,5.6744
missense_variant,SPIB,MISSENSE,NM_001244000.1:p.Leu84Pro/c.251T>C,cTg/cCg,MODERATE,COSM3933134(1),0.784145,0.4246,rs1673030,,,,,,chr19,50926264,50926264,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu84Pro/c.251T>C|231|SPIB|protein_coding|CODING|NM_001244000.1|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro103Pro/c.309T>C|177|SPIB|protein_coding|CODING|NM_001243999.1|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro103Pro/c.309T>C|262|SPIB|protein_coding|CODING|NM_003121.4|4|1),intron_variant(MODIFIER|||c.66+462T>C|171|SPIB|protein_coding|CODING|NM_001243998.1|3|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.8354,0.8545,0.8946,0.89,0.89,0.89,,,,,,,,,,,,,,,,
missense_variant,SPIB,MISSENSE,NM_003121.4:p.Ala104Pro/c.310G>C,Gca/Cca,MODERATE,,0.46905,0.2143,rs11546996,0.53(T),"0.015,0.002(B,B)",0.695(N),-0.9844(T),,chr19,50926265,50926265,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala104Pro/c.310G>C|177|SPIB|protein_coding|CODING|NM_001243999.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala104Pro/c.310G>C|262|SPIB|protein_coding|CODING|NM_003121.4|4|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu84Leu/c.252G>C|231|SPIB|protein_coding|CODING|NM_001244000.1|4|1),intron_variant(MODIFIER|||c.66+463G>C|171|SPIB|protein_coding|CODING|NM_001243998.1|3|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K36me3,GM06990:H3K36me3",,,,0.6012,0.6268,0.7704,0.56,0.30,0.70,,0.358127(N),1.000(P),0.82(T),0.0000(T),0.061,-0.819108,5.11,-2.12,0.561000,0.029000,0.775000,0.007000,0.000000,0.001000,4.825
missense_variant,ASPDH,MISSENSE,NM_001114598.1:p.Gln266Arg/c.797A>G,cAg/cGg,MODERATE,COSM3749542(10),0.795927,0.7143,rs12977172,0.92(T),"0.001,0.0(B,B)",-0.755(N),-0.9966(T),,chr19,51015404,51015404,T,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln161Arg/c.482A>G|178|ASPDH|protein_coding|CODING|NM_001024656.2|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln266Arg/c.797A>G|283|ASPDH|protein_coding|CODING|NM_001114598.1|6|1),upstream_gene_variant(MODIFIER||988||188|JOSD2|protein_coding|CODING|NM_001270686.1||1),upstream_gene_variant(MODIFIER||988||188|JOSD2|protein_coding|CODING|NM_138334.3||1),upstream_gene_variant(MODIFIER||792||188|JOSD2|protein_coding|CODING|NM_001270639.1||1),upstream_gene_variant(MODIFIER||792||188|JOSD2|protein_coding|CODING|NM_001270640.1||1),upstream_gene_variant(MODIFIER||792||146|JOSD2|protein_coding|CODING|NM_001270641.1||1)","K562:H3K4me3,CD4:H4K91ac,HMEC:H3K4me2,GM06990:H3K4me3,GM06990:DNase1,HMEC:H3K4me3",,,,0.7679,0.7781,0.6849,0.76,0.92,0.68,,0.761872(N),1.000(P),"1.05,1.05(T,T)",0.0000(T),0.014,-0.080592,2.95,1.88,-0.355000,0.125000,0.171000,0.553000,0.989000,0.916000,4.8935
synonymous_variant,SYT3,SILENT,NM_001160328.1:p.Val521Val/c.1563A>G,gtA/gtG,LOW,COSM4132318(1),0.697684,0.3095,rs16986142,,,,,,chr19,51128661,51128661,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val521Val/c.1563A>G|590|SYT3|protein_coding|CODING|NM_001160328.1|8|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val521Val/c.1563A>G|590|SYT3|protein_coding|CODING|NM_001160329.1|8|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val521Val/c.1563A>G|590|SYT3|protein_coding|CODING|NM_032298.2|6|1)",HeLa-S3:H3K27me3,,,,0.6575,0.7795,0.836,0.85,0.87,0.85,,,,,,,,,,,,,,,,
synonymous_variant,SYT3,SILENT,NM_001160328.1:p.Arg249Arg/c.747G>C,cgG/cgC,LOW,COSM4132319(1),0.595048,0.1696,rs10407511,,,,,,chr19,51133356,51133356,C,G,het,"synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg249Arg/c.747G>C|590|SYT3|protein_coding|CODING|NM_001160328.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg249Arg/c.747G>C|590|SYT3|protein_coding|CODING|NM_001160329.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg249Arg/c.747G>C|590|SYT3|protein_coding|CODING|NM_032298.2|3|1)","K562:H3K27me3,HepG2:H3K27me3",,,,0.4949,0.7176,0.6879,0.71,0.81,0.67,,,,,,,,,,,,,,,,
missense_variant,C19orf81,MISSENSE,NM_001195076.1:p.Ser77Ala/c.229T>G,Tcc/Gcc,MODERATE,,0.856629,0.755,rs4801844,1(T),,-0.145(N),-0.9560(T),,chr19,51159571,51159571,T,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser77Ala/c.229T>G|198|C19orf81|protein_coding|CODING|NM_001195076.1|3|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8865,0.879,0.8777,,,,,,0.000(P),,0.0000(T),0.172,-1.020379,4.35,3.31,-0.292000,0.439000,1.137000,0.455000,0.559000,0.807000,6.6101
missense_variant,SHANK1,MISSENSE,NM_016148.2:p.Val1504Ala/c.4511T>C,gTg/gCg,MODERATE,COSM3749544(3),0.717851,0.4494,rs3745521,0.66(T),"0.0,0.0(B,B)",-0.6(N),-1.0362(T),,chr19,51170706,51170706,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1504Ala/c.4511T>C|2161|SHANK1|protein_coding|CODING|NM_016148.2|22|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.591,0.8055,0.7614,0.86,0.94,0.82,,0.364440(N),1.000(P),"1.39,1.85,1.38,1.28(T,T,T,T)",0.0000(T),0.015,-1.293736,1.22,-0.142,-1.063000,-0.453000,1.116000,0.097000,0.000000,0.059000,4.3608
synonymous_variant,SHANK1,SILENT,NM_016148.2:p.Thr1343Thr/c.4029C>T,acC/acT,LOW,COSM3757073(1),0.30611,0.3185,rs750578,,,,,,chr19,51171188,51171188,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1343Thr/c.4029C>T|2161|SHANK1|protein_coding|CODING|NM_016148.2|22|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.3292,0.5576,0.4364,0.24,0.08,0.30,,,,,,,,,,,,,,,,
missense_variant,ACPT,MISSENSE,NM_033068.2:p.Ala325Thr/c.973G>A,Gcc/Acc,MODERATE,COSM1737820(2),0.329872,0.6538,rs55716643,0.3(T),0.001(B),0.345(N),-0.9256(T),,chr19,51297825,51297825,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala325Thr/c.973G>A|426|ACPT|protein_coding|CODING|NM_033068.2|9|1),"H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,K562:Max,HeLa-S3:DNase1,K562:PolII,K562:CTCF,HUVEC:PolII,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,K562:ELF1,GM12878:PolII,K562:Rad21,K562:Yy1,GM12878:Rad21,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,GM12878:Tcf12,K562:DNase1,GM06990:CTCF",,,,0.3753,0.2161,0.3012,0.24,0.15,0.28,,0.297051(N),1.000(P),"2.98,-1.02(T,T)",0.0000(T),0.009,0.397948,3.9,1.74,-0.931000,0.468000,0.419000,0.000000,0.009000,0.001000,4.3799
missense_variant,ACPT,MISSENSE,NM_033068.2:p.Ala325Asp/c.974C>A,gCc/gAc,MODERATE,COSM1737821(2),0.329872,0.6538,rs55735528,0.56(T),0.0(B),0.345(N),-0.9177(T),,chr19,51297826,51297826,C,A,het,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala325Asp/c.974C>A|426|ACPT|protein_coding|CODING|NM_033068.2|9|1),"H1ESC:PolII,NHEK:CTCF,H1ESC:H3K36me3,K562:Max,HeLa-S3:DNase1,K562:PolII,K562:CTCF,HUVEC:PolII,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,GM12878:BCLAF1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,HeLa-S3:CTCF,GM12878:CTCF,IMR90:H3K36me3,K562:CTCFL,HMEC:CTCF,K562:E2F6,HeLa-S3:PolII,K562:ELF1,GM12878:PolII,K562:Rad21,K562:Yy1,GM12878:Rad21,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,GM06990:DNase1,NHEK:DNase1,GM12878:Tcf12,K562:DNase1,GM06990:CTCF",,,,0.3753,0.2161,0.3012,0.23,0.15,0.28,,0.297051(N),1.000(P),"2.97,-1.04(T,T)",0.0000(T),0.016,-0.013485,3.9,2.88,-0.367000,0.688000,1.783000,0.002000,0.017000,0.004000,8.9577
missense_variant,C19orf48,MISSENSE,NM_001290152.1:p.Gly104Glu/c.311G>A,gGg/gAg,MODERATE,,0.329872,0.6538,rs4801853,0(D),0.354(B),0.345(N),-0.9497(T),,chr19,51301395,51301395,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_001290152.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_001290153.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_001290151.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_001290149.1|6|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_001290150.1|3|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_001290154.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_001290155.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_032712.2|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_199249.2|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly104Glu/c.311G>A|117|C19orf48|protein_coding|CODING|NM_199250.2|4|1),downstream_gene_variant(MODIFIER||891|||SNORD88B||NON_CODING|NR_003068.1||1),downstream_gene_variant(MODIFIER||1301|||SNORD88A||NON_CODING|NR_003067.1||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:Nrsf,K562:HEY1,GM06990:H3K36me3",,,,0.3753,0.2161,0.3012,0.24,0.15,0.28,,,1.000(P),"1.33,1.33(T,T)",0.0000(T),0.024,-0.108946,1.67,-2.21,-0.215000,-0.483000,-0.508000,0.026000,0.000000,0.000000,2.7674
missense_variant,C19orf48,MISSENSE,NM_001290152.1:p.Arg84Cys/c.250C>T,Cgc/Tgc,MODERATE,,0.329872,0.6538,rs4802741,0.13(T),0.001(B),0.205(N),-0.9931(T),,chr19,51301456,51301456,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_001290152.1|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_001290153.1|5|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_001290151.1|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_001290149.1|6|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_001290150.1|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_001290154.1|5|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_001290155.1|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_032712.2|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_199249.2|5|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg84Cys/c.250C>T|117|C19orf48|protein_coding|CODING|NM_199250.2|4|1),downstream_gene_variant(MODIFIER||830|||SNORD88B||NON_CODING|NR_003068.1||1),downstream_gene_variant(MODIFIER||1240|||SNORD88A||NON_CODING|NR_003067.1||1)","H1ESC:PolII,H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Nrsf,HepG2:H3K36me3,H1ESC:Nrsf,HeLa-S3:H3K36me3,K562:Nrsf,K562:HEY1,GM06990:H3K36me3",,,,0.3753,0.2161,0.3012,0.24,0.15,0.28,,,1.000(P),"1.47,1.47(T,T)",0.0000(T),0.026,-0.476478,1.92,0.845,-1.786000,-0.004000,0.160000,0.000000,0.000000,0.000000,7.3421
missense_variant,KLK1,MISSENSE,NM_002257.3:p.Glu145Gln/c.433G>C,Gag/Cag,MODERATE,COSM4132329(1),0.692692,0.8036,rs5516,0.51(T),0.005(B),0.54(N),-0.9866(T),,chr19,51323473,51323473,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu145Gln/c.433G>C|262|KLK1|protein_coding|CODING|NM_002257.3|3|1),downstream_gene_variant(MODIFIER||1339|||MGC45922||NON_CODING|NR_038359.1||1)","K562:Max,HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.6554,0.7478,0.672,0.66,0.63,0.67,,,1.000(P),"-2.42,-2.42(D,D)",0.0000(T),0.086,-1.214201,3.09,-3.94,-2.037000,-0.924000,-1.964000,0.002000,0.050000,0.000000,9.5547
synonymous_variant,KLK1,SILENT,NM_002257.3:p.Asp135Asp/c.405T>C,gaT/gaC,LOW,COSM4132330(1),0.727236,0.8026,rs1054713,,,,,,chr19,51323501,51323501,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp135Asp/c.405T>C|262|KLK1|protein_coding|CODING|NM_002257.3|3|1),downstream_gene_variant(MODIFIER||1367|||MGC45922||NON_CODING|NR_038359.1||1)","K562:Max,HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.6534,0.7651,0.672,0.69,0.74,0.67,,,,,,,,,,,,,,,,
stop_gained,KLK15,NONSENSE,NM_017509.3:p.Gln64*/c.190C>T,Caa/Taa,HIGH,,,,,0.04(D),,,,KLK15:0.75(4);KLK15:0.75(4);,chr19,51330925,51330925,G,A,het,"stop_gained(HIGH|NONSENSE|Caa/Taa|p.Gln63*/c.187C>T|255|KLK15|protein_coding|CODING|NM_001277081.1|2|1),stop_gained(HIGH|NONSENSE|Caa/Taa|p.Gln63*/c.187C>T|160|KLK15|protein_coding|CODING|NM_001277082.1|2|1),stop_gained(HIGH|NONSENSE|Caa/Taa|p.Gln64*/c.190C>T|256|KLK15|protein_coding|CODING|NM_017509.3|2|1),non_coding_exon_variant(MODIFIER|||n.218C>T||KLK15||CODING|NR_102274.1|2|1)","H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.627614(N),1.000(A),,,.,2.588284,4.52,2.22,-0.258000,1.254000,1.227000,0.294000,0.980000,0.979000,7.3423
synonymous_variant,KLK15,SILENT,NM_017509.3:p.Ala61Ala/c.183C>A,gcC/gcA,LOW,COSM3757079(2),0.279952,0.5198,rs3745522,,,,,,chr19,51330932,51330932,G,T,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala60Ala/c.180C>A|255|KLK15|protein_coding|CODING|NM_001277081.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala60Ala/c.180C>A|160|KLK15|protein_coding|CODING|NM_001277082.1|2|1),synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala61Ala/c.183C>A|256|KLK15|protein_coding|CODING|NM_017509.3|2|1),non_coding_exon_variant(MODIFIER|||n.211C>A||KLK15||CODING|NR_102274.1|2|1)","H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2699,0.4352,0.2465,0.19,0.08,0.25,,,,,,,,,,,,,,,,
synonymous_variant,KLK2,SILENT,NM_005551.4:p.Leu124Leu/c.372C>T,ctC/ctT,LOW,COSM3757081(2),0.442093,0.2877,rs198972,,,,,,chr19,51379893,51379893,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu124Leu/c.372C>T|223|KLK2|protein_coding|CODING|NM_001002231.2|3|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu22Leu/c.66C>T|159|KLK2|protein_coding|CODING|NM_001256080.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu124Leu/c.372C>T|261|KLK2|protein_coding|CODING|NM_005551.4|3|1),non_coding_exon_variant(MODIFIER|||n.413C>T||KLK2||CODING|NR_045762.1|3|1),non_coding_exon_variant(MODIFIER|||n.499C>T||KLK2||CODING|NR_045763.1|3|1)","GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.4877,0.3545,0.332,0.41,0.61,0.31,,,,,,,,,,,,,,,,
missense_variant,KLK4,MISSENSE,NM_004917.3:p.His197Gln/c.591C>A,caC/caA,MODERATE,,0.998403,1,rs2569527,0.76(T),0.0(B),-0.79(N),-1.0124(T),,chr19,51411636,51411636,G,T,hom,missense_variant(MODERATE|MISSENSE|caC/caA|p.His197Gln/c.591C>A|254|KLK4|protein_coding|CODING|NM_004917.3|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9969,0.9971,0.997,1.00,1.00,1.00,,0.637568(N),1.000(P),-3.06(D),0.0000(T),0.045,-0.969257,3.68,-4.43,-2.842000,-1.112000,-0.543000,0.000000,0.000000,0.000000,8.1103
synonymous_variant,KLK4,SILENT,NM_004917.3:p.Ser22Ser/c.66G>T,tcG/tcT,LOW,COSM1395578(3),0.241813,0.1071,rs1654552,,,,,,chr19,51412666,51412666,C,A,het,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser22Ser/c.66G>T|254|KLK4|protein_coding|CODING|NM_004917.3|2|1),"HUVEC:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,K562:DNase1",,,,0.2679,0.4078,0.4672,0.36,0.12,0.47,,,,,,,,,,,,,,,,
missense_variant,KLK5,MISSENSE,NM_001077491.1:p.Asn153Asp/c.457A>G,Aac/Gac,MODERATE,COSM4132335(1),0.9998,1,rs183854,1(T),0.0(B),-2.98(N),-0.9482(T),,chr19,51452250,51452250,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn153Asp/c.457A>G|293|KLK5|protein_coding|CODING|NM_001077491.1|5|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn153Asp/c.457A>G|293|KLK5|protein_coding|CODING|NM_001077492.1|4|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn153Asp/c.457A>G|293|KLK5|protein_coding|CODING|NM_012427.4|4|1)","HMEC:H3K36me3,NHEK:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,0.003667(N),0.773(P),"-1.09,-1.09(T,T)",0.0000(T),0.285,-0.651986,4.34,4.34,-0.119000,1.054000,5.033000,0.065000,0.786000,1.000000,8.2517
missense_variant,KLK7,MISSENSE,NM_001243126.1:p.Leu54Pro/c.161T>C,cTt/cCt,MODERATE,COSM4132336(1),0.957867,1,rs2659067,,,,,,chr19,51485622,51485622,A,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu54Pro/c.161T>C|246|KLK7|protein_coding|CODING|NM_001243126.1|2|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu12Leu/c.34T>C|253|KLK7|protein_coding|CODING|NM_005046.3|2|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu12Leu/c.34T>C|253|KLK7|protein_coding|CODING|NM_139277.2|2|1),intron_variant(MODIFIER|||c.-143-452T>C|181|KLK7|protein_coding|CODING|NM_001207053.1|1|1)","H1ESC:H3K27me3,NHEK:H3K27me3,HMEC:H3K4me3",,,,0.9652,0.9654,0.8986,0.93,0.97,0.91,,,,,,,,,,,,,,,,
splice_donor_variant,KLK12,protein_coding,NM_019598.2:c.458T>C,,HIGH,COSM3757089(2),0.534145,0.6369,rs3745540,,,,,KLK12:0.67(3);,chr19,51535130,51535130,A,G,het,"splice_donor_variant(HIGH|||c.458T>C|254|KLK12|protein_coding|CODING|NM_019598.2|4|1),splice_donor_variant(HIGH|||c.458T>C|248|KLK12|protein_coding|CODING|NM_145894.1|4|1),intron_variant(MODIFIER|||c.457+2T>C|254|KLK12|protein_coding|CODING|NM_019598.2|4|1),intron_variant(MODIFIER|||c.457+2T>C|248|KLK12|protein_coding|CODING|NM_145894.1|4|1),intron_variant(MODIFIER|||c.198-953T>C|111|KLK12|protein_coding|CODING|NM_145895.1|3|1)",,,,,0.6176,0.5591,0.5656,0.52,0.38,0.59,,,0.000(P),,,.,1.708772,4.27,4.27,0.528000,1.949000,0.937000,0.355000,1.000000,0.780000,9.9845
missense_variant,KLK14,MISSENSE,NM_022046.4:p.His45Tyr/c.133C>T,Cat/Tat,MODERATE,COSM3757090(1),0.405751,0.0952,rs2569491,1(T),0.0(B),0.16(N),-0.9389(T),,chr19,51584916,51584916,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His45Tyr/c.133C>T|267|KLK14|protein_coding|CODING|NM_022046.4|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4581,0.2637,0.3201,0.42,0.63,0.31,,,1.000(P),"-2.43,-2.43(D,D)",0.0000(T),0.12,-1.694889,5.04,2.91,-0.355000,0.411000,2.724000,0.287000,0.154000,0.992000,4.6001
missense_variant,KLK14,MISSENSE,NM_022046.4:p.Gln33Arg/c.98A>G,cAg/cGg,MODERATE,,0.414137,0.0952,rs35287116,0.37(T),0.004(B),0(N),-0.9079(T),,chr19,51584951,51584951,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln33Arg/c.98A>G|267|KLK14|protein_coding|CODING|NM_022046.4|4|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5092,0.2781,0.3966,0.44,0.57,0.38,,,1.000(P),"-3.1,-3.1(D,D)",0.0000(T),0.116,1.264708,4.57,3.55,-1.351000,0.373000,0.745000,0.682000,0.771000,0.590000,8.7263
missense_variant,SIGLEC9,MISSENSE,NM_001198558.1:p.Lys100Glu/c.298A>G,Aag/Gag,MODERATE,COSM4000839(3),0.525958,0.5734,rs2075803,0.22(T),0.094(B),1.675(L),-0.9186(T),,chr19,51628529,51628529,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys100Glu/c.298A>G|479|SIGLEC9|protein_coding|CODING|NM_001198558.1|1|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys100Glu/c.298A>G|463|SIGLEC9|protein_coding|CODING|NM_014441.2|1|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:H3K4me1,CD4:H3K4ac,CD4:H2BK120ac,HepG2:H3K27me3",,,,0.6534,0.464,0.5835,0.51,0.40,0.57,,0.929113(N),1.000(P),"-0.18,-0.18(T,T)",0.0000(T),0.027,0.053225,3.03,0.721,0.421000,-0.132000,-1.309000,0.004000,0.000000,0.000000,5.6925
missense_variant,SIGLEC9,MISSENSE,NM_001198558.1:p.Ala315Glu/c.944C>A,gCa/gAa,MODERATE,COSM4000842(1),0.67492,0.5744,rs2258983,1(T),0.0(B),-1.795(N),-1.0218(T),,chr19,51630482,51630482,C,A,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala315Glu/c.944C>A|479|SIGLEC9|protein_coding|CODING|NM_001198558.1|4|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala315Glu/c.944C>A|463|SIGLEC9|protein_coding|CODING|NM_014441.2|4|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6677,0.5086,0.5845,0.67,0.85,0.57,,0.436262(N),1.000(P),"2.5,2.5(T,T)",0.0000(T),0.04,-1.957070,2.3,-0.399,-0.694000,-0.421000,-0.534000,0.002000,0.001000,0.000000,3.0571
synonymous_variant,SIGLEC7,SILENT,NM_014385.3:p.Gly452Gly/c.1356A>T,ggA/ggT,LOW,COSM148693(1),0.716054,0.5744,rs273662,,,,,,chr19,51656454,51656454,A,T,het,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly452Gly/c.1356A>T|467|SIGLEC7|protein_coding|CODING|NM_014385.3|7|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly359Gly/c.1077A>T|374|SIGLEC7|protein_coding|CODING|NM_016543.3|6|1),3_prime_UTR_variant(MODIFIER||130|c.*130A>T|145|SIGLEC7|protein_coding|CODING|NM_001277201.1|2|1),non_coding_exon_variant(MODIFIER|||n.1489T>A||LOC101928517||NON_CODING|NR_110732.1|5|1),non_coding_exon_variant(MODIFIER|||n.734A>T||SIGLEC7||CODING|NR_102350.1|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.8344,0.7493,0.9414,0.82,0.60,0.94,,,,,,,,,,,,,,,,
missense_variant,CD33,MISSENSE,NM_001772.3:p.Ala14Val/c.41C>T,gCc/gTc,MODERATE,COSM3757092(2),0.210663,0.1855,rs12459419,0.12(T),"0.283,0.109(B,B)",0.975(L),-0.8888(T),,chr19,51728477,51728477,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala14Val/c.41C>T|310|CD33|protein_coding|CODING|NM_001177608.1|2|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala14Val/c.41C>T|364|CD33|protein_coding|CODING|NM_001772.3|2|1),intron_variant(MODIFIER|||c.37+66C>T|237|CD33|protein_coding|CODING|NM_001082618.1|1|1)","K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,GM06990:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,H1ESC:H3K27me3,K562:Gabp,K562:Cmyc,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,NHEK:H3K27me3,K562:ELF1,HeLa-S3:H3K4me3,HepG2:H3K27me3,K562:HEY1,K562:SP1,K562:H3K4me2,K562:H2AZ,K562:DNase1",,,,0.1554,0.4841,0.3101,0.23,0.09,0.30,,,1.000(P),"2.45,2.32(T,T)",0.0000(T),0.032,1.889446,3.32,0.919,0.467000,0.184000,0.120000,0.016000,0.001000,0.003000,9.354
missense_variant,CD33,MISSENSE,NM_001772.3:p.Arg69Gly/c.205A>G,Agg/Ggg,MODERATE,COSM148694(3),0.335064,0.1042,rs2455069,0.34(T),"0.003,0.009(B,B)",1.1(L),-0.9761(T),,chr19,51728641,51728641,A,G,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg69Gly/c.205A>G|310|CD33|protein_coding|CODING|NM_001177608.1|2|1),missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg69Gly/c.205A>G|364|CD33|protein_coding|CODING|NM_001772.3|2|1),intron_variant(MODIFIER|||c.37+230A>G|237|CD33|protein_coding|CODING|NM_001082618.1|1|1)","K562:H3K4me3,GM06990:H3K27me3,K562:H3K27ac,GM12878:H3K27me3,H1ESC:H3K27me3,K562:Gabp,NHEK:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,K562:H2AZ",,,,0.2168,0.2983,0.4483,0.45,0.50,0.43,,0.001149(N),1.000(P),"0.9,0.9(T,T)",0.0000(T),0.035,0.242838,3.49,-6.98,-4.293000,-1.842000,-2.931000,0.000000,0.000000,0.000000,1.204
missense_variant,VSIG10L,MISSENSE,NM_001163922.1:p.Arg592Gln/c.1775G>A,cGg/cAg,MODERATE,,0.569289,0.6151,rs34380065,0.58(T),0.001(B),1.25(L),-0.8950(T),,chr19,51841417,51841417,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg592Gln/c.1775G>A|867|VSIG10L|protein_coding|CODING|NM_001163922.1|6|1),HepG2:H3K36me3,,,,0.7434,0.4654,0.5636,0.56,0.48,0.59,,0.928865(N),1.000(P),1.64(T),0.0000(T),0.051,0.814392,5.12,-8.41,-0.367000,-0.736000,-1.742000,0.016000,0.000000,0.000000,2.0607
missense_variant,VSIG10L,MISSENSE,NM_001163922.1:p.Met356Ile/c.1068G>A,atG/atA,MODERATE,COSM3757095(10),0.558506,0.62,rs7259266,1(T),0.0(B),0(N),-0.9412(T),,chr19,51843808,51843808,C,T,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met356Ile/c.1068G>A|867|VSIG10L|protein_coding|CODING|NM_001163922.1|3|1),"K562:ZBTB7A,K562:Max,K562:H3K4me3,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,NHEK:H3K4me3,K562:H3K27ac,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,HepG2:H3K4me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,0.7597,0.4798,0.5785,0.55,0.42,0.61,,,1.000(P),-0.62(T),0.0000(T),0.015,-0.145838,3.18,0.662,-0.464000,0.087000,0.119000,0.011000,0.012000,0.323000,10.5736
synonymous_variant,VSIG10L,SILENT,NM_001163922.1:p.Ser108Ser/c.324C>A,tcC/tcA,LOW,,0.636581,0.619,rs8105710,,,,,,chr19,51844978,51844978,G,T,het,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser108Ser/c.324C>A|867|VSIG10L|protein_coding|CODING|NM_001163922.1|2|1),H1ESC:H3K27me3,,,,0.7607,0.5086,0.5795,0.61,0.63,0.60,,,,,,,,,,,,,,,,
missense_variant,VSIG10L,MISSENSE,NM_001163922.1:p.Asn3Thr/c.8A>C,aAc/aCc,MODERATE,,0.639976,0.621,rs10414211,1(T),0.0(B),0(N),-0.9451(T),,chr19,51845371,51845371,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn3Thr/c.8A>C|867|VSIG10L|protein_coding|CODING|NM_001163922.1|1|1),"HepG2:Nrsf,H1ESC:H3K27me3,H1ESC:Nrsf,K562:Nrsf",,,,0.7607,0.5086,0.5805,0.62,0.65,0.60,,,1.000(P),2.29(T),0.0000(T),0.016,-2.492124,3.56,-0.237,-0.187000,-0.187000,-0.099000,0.067000,0.164000,0.069000,3.1037
missense_variant,ETFB,MISSENSE,NM_001014763.1:p.Thr245Met/c.734C>T,aCg/aTg,MODERATE,COSM3721676(3),0.419728,0.2887,rs1130426,0.03(D),"0.696,0.835(P,P)",1.745(L),-0.8912(T),,chr19,51850290,51850290,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr245Met/c.734C>T|346|ETFB|protein_coding|CODING|NM_001014763.1|4|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr154Met/c.461C>T|255|ETFB|protein_coding|CODING|NM_001985.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079961.1,,0.3088,0.451,0.5686,0.54,0.51,0.56,,0.003016(N),0.023(P),"-1.68,-1.68(D,D)",0.0000(T),0.199,4.229291,5.2,5.2,0.561000,2.573000,3.682000,0.948000,0.952000,0.996000,11.6543
missense_variant,C19orf84,MISSENSE,NM_001193623.1:p.Asn39Ser/c.116A>G,aAc/aGc,MODERATE,COSM3766413(1),0.321885,0.3313,rs8104425,,,,,,chr19,51892683,51892683,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn39Ser/c.116A>G|186|C19orf84|protein_coding|CODING|NM_001193623.1|2|1),upstream_gene_variant(MODIFIER||1473||173|LIM2|protein_coding|CODING|NM_001161748.1||1),upstream_gene_variant(MODIFIER||1473||215|LIM2|protein_coding|CODING|NM_030657.3||1)","HepG2:H3K4me2,HepG2:PolII,HepG2:H3K4me3,HepG2:TAF1,HepG2:DNase1",,,,0.228,0.2824,0.161,,,,,,,,,,,,,,,,,,,
missense_variant,LOC100129083,MISSENSE,NM_001256795.1:p.Cys15Arg/c.43T>C,Tgt/Cgt,MODERATE,COSM1395660(1),0.110224,0.1071,rs61741671,,,,,,chr19,51919321,51919321,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys15Arg/c.43T>C|115|LOC100129083|protein_coding|CODING|NM_001256795.1|1|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr227Thr/c.681A>G|639|SIGLEC10|protein_coding|CODING|NM_001171156.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr285Thr/c.855A>G|602|SIGLEC10|protein_coding|CODING|NM_001171157.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr237Thr/c.711A>G|554|SIGLEC10|protein_coding|CODING|NM_001171158.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr227Thr/c.681A>G|544|SIGLEC10|protein_coding|CODING|NM_001171159.1|5|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr285Thr/c.855A>G|697|SIGLEC10|protein_coding|CODING|NM_033130.4|5|1),intron_variant(MODIFIER|||c.580+243A>G|454|SIGLEC10|protein_coding|CODING|NM_001171161.1|4|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1043,0.0893,0.0487,0.09,0.16,0.06,,,,,,,,,,,,,,,,
synonymous_variant,SIGLEC10,SILENT,NM_033130.4:p.Gln48Gln/c.144G>A,caG/caA,LOW,,0.834265,0.8641,rs1010425,,,,,,chr19,51920613,51920613,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|639|SIGLEC10|protein_coding|CODING|NM_001171156.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|602|SIGLEC10|protein_coding|CODING|NM_001171157.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|554|SIGLEC10|protein_coding|CODING|NM_001171158.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|544|SIGLEC10|protein_coding|CODING|NM_001171159.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|454|SIGLEC10|protein_coding|CODING|NM_001171161.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln48Gln/c.144G>A|697|SIGLEC10|protein_coding|CODING|NM_033130.4|2|1),3_prime_UTR_variant(MODIFIER||196|c.*196C>T|115|LOC100129083|protein_coding|CODING|NM_001256795.1|3|1)","GM12878:BATF,GM12878:H3K27ac,GM06990:H3K4me3,NHEK:H3K27me3,GM12878:PolII,HeLa-S3:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1",,,,0.8507,0.8876,0.8728,0.84,0.77,0.88,,,1.000(P),,,.,0.133960,4.54,-9.07,0.313000,-5.273000,-5.720000,0.010000,0.000000,0.000000,1.0522
missense_variant,SIGLEC8,MISSENSE,NM_014442.2:p.Gly129Arg/c.385G>C,Gga/Cga,MODERATE,,0.000599042,0,rs61735198,0.02(D),"0.711,0.941,0.912(P,D,D)",2.575(M),-0.6732(T),,chr19,51961257,51961257,C,G,het,missense_variant(MODERATE|MISSENSE|Gga/Cga|p.Gly129Arg/c.385G>C|499|SIGLEC8|protein_coding|CODING|NM_014442.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0,0,0.003,0.00,0.00,0.00,,0.002400(U),1.000(N),"-0.15,-0.15,1.87(T,T,T)",0.3608(T),0.169,1.912713,2.56,1.47,0.398000,0.381000,0.269000,0.092000,0.002000,0.000000,7.2421
missense_variant,CEACAM18,MISSENSE,NM_001278392.1:p.Leu160His/c.479T>A,cTc/cAc,MODERATE,COSM4132343(1),0.887181,0.9246,rs8106673,0.57(T),0.002(B),0.87(L),-1.0316(T),,chr19,51984725,51984725,T,A,hom,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu160His/c.479T>A|374|CEACAM18|protein_coding|CODING|NM_001278392.1|3|1),HepG2:H3K27me3,,,,0.8916,0.853,0.7684,0.83,0.93,0.77,,,1.000(P),3.49(T),0.0000(T),0.059,-1.019999,2.82,1.71,-0.372000,0.043000,0.025000,0.045000,0.231000,0.000000,5.3935
synonymous_variant,CEACAM18,SILENT,NM_001278392.1:p.Thr164Thr/c.492C>T,acC/acT,LOW,COSM3757106(1),0.0127796,0.001,rs61998206,,,,,,chr19,51984738,51984738,C,T,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr164Thr/c.492C>T|374|CEACAM18|protein_coding|CODING|NM_001278392.1|3|1),HepG2:H3K27me3,,,,0.0266,0.0159,0.0249,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,SIGLEC12,MISSENSE,NM_053003.3:p.Tyr494Ser/c.1481A>C,tAc/tCc,MODERATE,COSM4132345(1),0.831669,0.5367,rs3752135,0.89(T),"0.0,0.0(B,B)",-2.215(N),-0.9527(T),,chr19,52000624,52000624,T,G,hom,"missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr376Ser/c.1127A>C|477|SIGLEC12|protein_coding|CODING|NM_033329.2|5|1),missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr494Ser/c.1481A>C|595|SIGLEC12|protein_coding|CODING|NM_053003.3|6|1)","HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.863,0.9063,0.8588,0.89,0.95,0.86,,0.720387(N),1.000(P),1.29(T),0.0000(T),0.048,-0.576156,1.5,-1.13,-0.527000,-0.635000,-1.244000,0.184000,0.000000,0.000000,0.6347
missense_variant,SIGLEC12,MISSENSE,NM_053003.3:p.Thr478Met/c.1433C>T,aCg/aTg,MODERATE,COSM148702(2),0.629393,0.4683,rs3829658,0.29(T),"0.056,0.03(B,B)",0.42(N),-1.0414(T),,chr19,52000672,52000672,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr360Met/c.1079C>T|477|SIGLEC12|protein_coding|CODING|NM_033329.2|5|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr478Met/c.1433C>T|595|SIGLEC12|protein_coding|CODING|NM_053003.3|6|1)","HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.7474,0.7651,0.6531,0.64,0.60,0.66,,0.228517(N),1.000(P),3.57(T),0.0000(T),0.036,-0.462073,1.52,-0.0378,0.395000,-0.055000,0.163000,0.117000,0.000000,0.000000,3.5577
missense_variant,SIGLEC12,MISSENSE,NM_053003.3:p.His398Tyr/c.1192C>T,Cac/Tac,MODERATE,COSM3757107(2),0.353435,0.2728,rs11668530,0.32(T),"0.115,0.022(B,B)",0.345(N),-0.9471(T),,chr19,52001485,52001485,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His280Tyr/c.838C>T|477|SIGLEC12|protein_coding|CODING|NM_033329.2|4|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His398Tyr/c.1192C>T|595|SIGLEC12|protein_coding|CODING|NM_053003.3|5|1)",GM12878:H3K27me3,,,,0.5706,0.513,0.498,0.39,0.14,0.52,,0.150893(U),1.000(P),2.73(T),0.0000(T),0.033,0.192805,1.39,1.39,0.393000,1.076000,0.197000,0.025000,0.164000,0.087000,6.2185
synonymous_variant,SIGLEC12,SILENT,NM_053003.3:p.Gly350Gly/c.1050C>T,ggC/ggT,LOW,COSM4132347(1),0.565096,0.37,rs2009362,,,,,,chr19,52002729,52002729,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly232Gly/c.696C>T|477|SIGLEC12|protein_coding|CODING|NM_033329.2|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly350Gly/c.1050C>T|595|SIGLEC12|protein_coding|CODING|NM_053003.3|3|1)","GM12878:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6084,0.7219,0.6272,0.61,0.57,0.64,,,,,,,,,,,,,,,,
missense_variant,SIGLEC12,MISSENSE,NM_053003.3:p.His217Gln/c.651C>G,caC/caG,MODERATE,COSM4000847(2),0.825879,0.5149,rs6509544,1(T),"0.0,0.0(B,B)",-1.975(N),-0.9547(T),,chr19,52003331,52003331,G,C,hom,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His217Gln/c.651C>G|595|SIGLEC12|protein_coding|CODING|NM_053003.3|2|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His99Gln/c.297C>G|477|SIGLEC12|protein_coding|CODING|NM_033329.2|1|1)","H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.863,0.9035,0.8569,0.88,0.95,0.85,,0.801748(N),1.000(P),-0.04(T),0.0000(T),0.009,-2.947224,0.735,-0.443,-2.719000,-0.685000,-0.122000,0.001000,0.004000,0.001000,2.4969
missense_variant,SIGLEC12,MISSENSE,NM_053003.3:p.Ala82Val/c.245C>T,gCt/gTt,MODERATE,COSM148704(5),0.569489,0.369,rs3810110,0.02(D),0.007(B),1.155(L),-0.9746(T),,chr19,52004743,52004743,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCt/gTt|p.Ala82Val/c.245C>T|595|SIGLEC12|protein_coding|CODING|NM_053003.3|1|1),upstream_gene_variant(MODIFIER||1096||477|SIGLEC12|protein_coding|CODING|NM_033329.2||1)","HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6247,0.7248,0.6322,0.62,0.57,0.64,,,1.000(P),1.95(T),0.0000(T),0.017,0.536379,2.42,-3.74,0.395000,-0.727000,-1.317000,0.072000,0.000000,0.000000,0.7216
synonymous_variant,SIGLEC12,SILENT,NM_053003.3:p.Arg65Arg/c.193C>A,Cgg/Agg,LOW,,0.569688,0.369,rs61742108,,,,,,chr19,52004795,52004795,G,T,hom,"synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg65Arg/c.193C>A|595|SIGLEC12|protein_coding|CODING|NM_053003.3|1|1),upstream_gene_variant(MODIFIER||1148||477|SIGLEC12|protein_coding|CODING|NM_033329.2||1)","HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6258,0.7248,0.6322,,,,,,,,,,,,,,,,,,,
missense_variant,SIGLEC6,MISSENSE,NM_001177548.1:p.Pro246Ser/c.736C>T,Cca/Tca,MODERATE,,0.580471,0.4643,rs2305772,,0.732(P),-0.345(N),-0.9819(T),,chr19,52033742,52033742,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro246Ser/c.736C>T|389|SIGLEC6|protein_coding|CODING|NM_001177548.1|4|1),splice_region_variant(LOW|||c.674C>T|342|SIGLEC6|protein_coding|CODING|NM_001177549.1|3|1),splice_region_variant(LOW|||c.707C>T|453|SIGLEC6|protein_coding|CODING|NM_001245.5|3|1),splice_region_variant(LOW|||c.707C>T|353|SIGLEC6|protein_coding|CODING|NM_198846.4|3|1),intron_variant(MODIFIER|||c.598+193C>T|401|SIGLEC6|protein_coding|CODING|NM_001177547.1|3|1),intron_variant(MODIFIER|||c.706+193C>T|437|SIGLEC6|protein_coding|CODING|NM_198845.4|3|1),intron_variant(MODIFIER|||c.674-4C>T|342|SIGLEC6|protein_coding|CODING|NM_001177549.1|3|1),intron_variant(MODIFIER|||c.707-4C>T|453|SIGLEC6|protein_coding|CODING|NM_001245.5|3|1),intron_variant(MODIFIER|||c.707-4C>T|353|SIGLEC6|protein_coding|CODING|NM_198846.4|3|1)","GM06990:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6411,0.6945,0.5845,0.59,0.59,0.60,,,0.999(P),1.52(T),0.0000(T),0.01,-0.304298,3.21,-0.917,0.407000,0.164000,-0.587000,0.016000,0.177000,0.025000,5.1905
synonymous_variant,SIGLEC5,SILENT,NM_003830.3:p.Ser403Ser/c.1209C>T,agC/agT,LOW,COSM4132351(1),0.150359,0.006,rs8104955,,,,,,chr19,52130788,52130788,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser403Ser/c.1209C>T|551|SIGLEC5|protein_coding|CODING|NM_003830.3|6|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1135,0.219,0.169,0.19,0.24,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SIGLEC5,SILENT,NM_003830.3:p.Gly389Gly/c.1167G>T,ggG/ggT,LOW,COSM4132352(2),0.328674,0.0089,rs8107754,,,,,,chr19,52130830,52130830,C,A,hom,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly389Gly/c.1167G>T|551|SIGLEC5|protein_coding|CODING|NM_003830.3|6|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2894,0.5562,0.4602,0.46,0.42,0.48,,,,,,,,,,,,,,,,
missense_variant,SIGLEC5,MISSENSE,NM_003830.3:p.Arg358Trp/c.1072C>T,Cgg/Tgg,MODERATE,,0.178514,0.006,rs8108074,0.04(D),0.005(B),-0.63(N),-1.0947(T),,chr19,52130925,52130925,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg358Trp/c.1072C>T|551|SIGLEC5|protein_coding|CODING|NM_003830.3|6|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1135,0.2262,0.17,0.22,0.33,0.16,,0.468769(N),1.000(P),"-2.15,-2.15(D,D)",0.0000(T),0.523,-0.280941,4.15,-5.23,-1.183000,-0.929000,-0.916000,0.002000,0.000000,0.000000,2.2663
synonymous_variant,SIGLEC14,SILENT,NM_001098612.1:p.Pro190Pro/c.570C>T,ccC/ccT,LOW,COSM4132355(1),0.433906,0.4325,rs71358847,,,,,,chr19,52149165,52149165,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro190Pro/c.570C>T|396|SIGLEC14|protein_coding|CODING|NM_001098612.1|3|1),"GM06990:H3K27me3,GM12878:H3K36me3,GM06990:H3K4me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5,0.3963,0.3429,0.37,0.41,0.36,,,,,,,,,,,,,,,,
synonymous_variant,HAS1,SILENT,NM_001523.3:p.Asp266Asp/c.798C>T,gaC/gaT,LOW,COSM3933145(1),0.178315,0.4435,rs11084111,,,,,,chr19,52220351,52220351,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp265Asp/c.795C>T|577|HAS1|protein_coding|CODING|NM_001297436.1|3|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp266Asp/c.798C>T|578|HAS1|protein_coding|CODING|NM_001523.3|3|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,IMR90:H3K27me3",,,,0.1002,0.098,0.1123,0.10,0.13,0.09,,,,,,,,,,,,,,,,
synonymous_variant,HAS1,SILENT,NM_001523.3:p.Arg203Arg/c.609C>T,cgC/cgT,LOW,COSM330377(2),0.358826,0.2113,rs11084112,,,,,,chr19,52222552,52222552,G,A,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg202Arg/c.606C>T|577|HAS1|protein_coding|CODING|NM_001297436.1|2|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg203Arg/c.609C>T|578|HAS1|protein_coding|CODING|NM_001523.3|2|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4059,0.4251,0.334,0.36,0.43,0.33,,,,,,,,,,,,,,,,
missense_variant,HAS1,MISSENSE,NM_001523.3:p.Cys14Arg/c.40T>C,Tgc/Cgc,MODERATE,COSM440132(8),0.812101,0.9881,rs7248778,1(T),"0.0,0.0(B,B)",-0.69(N),-0.9728(T),,chr19,52223121,52223121,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys13Arg/c.37T>C|577|HAS1|protein_coding|CODING|NM_001297436.1|2|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys14Arg/c.40T>C|578|HAS1|protein_coding|CODING|NM_001523.3|2|1)","HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8364,0.8184,0.7286,0.75,0.78,0.74,,0.064637(N),0.890(P),"1.7,1.7(T,T)",0.0000(T),0.079,-1.464891,3.32,2.26,-0.514000,0.227000,1.201000,0.444000,0.438000,0.966000,6.0191
missense_variant,FPR1,MISSENSE,NM_001193306.1:p.Glu346Ala/c.1037A>C,gAg/gCg,MODERATE,COSM3757113(1),0.787141,0.6974,rs867228,0.11(T),0.309(B),2.42(M),-0.9131(T),,chr19,52249211,52249211,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu346Ala/c.1037A>C|350|FPR1|protein_coding|CODING|NM_001193306.1|3|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu346Ala/c.1037A>C|350|FPR1|protein_coding|CODING|NM_002029.3|2|1)",HepG2:H3K27me3,,,,0.8384,0.8069,0.7763,0.80,0.79,0.80,,0.019306(N),1.000(P),0.11(T),0.0000(T),0.059,1.198177,3.09,3.09,0.528000,1.361000,0.393000,0.002000,0.003000,0.000000,6.7326
missense_variant,FPR1,MISSENSE,NM_001193306.1:p.Asn192Lys/c.576T>G,aaT/aaG,MODERATE,,0.365615,0.2917,rs1042229,,,,,,chr19,52249672,52249672,A,"C,G",,"missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn192Lys/c.576T>G|350|FPR1|protein_coding|CODING|NM_001193306.1|3|1),missense_variant(MODERATE|MISSENSE|aaT/aaG|p.Asn192Lys/c.576T>G|350|FPR1|protein_coding|CODING|NM_002029.3|2|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn192Asn/c.576T>C|350|FPR1|protein_coding|CODING|NM_001193306.1|3|2),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn192Asn/c.576T>C|350|FPR1|protein_coding|CODING|NM_002029.3|2|2)",HepG2:H3K27me3,,,,0.3384,0.2882,0.3588,,,,,,,,,,,,,,,,,,,
missense_variant,FPR1,MISSENSE,NM_001193306.1:p.Arg190Trp/c.568A>T,Agg/Tgg,MODERATE,COSM148707(1),0.135783,0.2192,rs5030880,0.22(T),0.014(B),1.29(L),-1.0961(T),,chr19,52249680,52249680,T,A,het,"missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg190Trp/c.568A>T|350|FPR1|protein_coding|CODING|NM_001193306.1|3|1),missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg190Trp/c.568A>T|350|FPR1|protein_coding|CODING|NM_002029.3|2|1)",HepG2:H3K27me3,,,,0.1779,0.0793,0.1153,0.11,0.08,0.13,,0.459864(N),1.000(P),0.01(T),0.0003(T),0.101,1.854853,3.66,2.63,0.533000,1.596000,1.360000,0.006000,0.152000,0.142000,6.5695
missense_variant,FPR1,MISSENSE,NM_001193306.1:p.Ile11Thr/c.32T>C,aTc/aCc,MODERATE,,0.834065,0.9613,rs5030878,0.57(T),0.013(B),0(N),-1.0046(T),,chr19,52250216,52250216,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile11Thr/c.32T>C|350|FPR1|protein_coding|CODING|NM_001193306.1|3|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile11Thr/c.32T>C|350|FPR1|protein_coding|CODING|NM_002029.3|2|1)",HepG2:H3K27me3,,,,0.8681,0.7896,0.7684,0.77,0.79,0.76,,0.105855(N),1.000(P),1.18(T),0.0000(T),0.02,0.255528,3.62,-6.88,0.533000,-1.802000,-2.070000,0.007000,0.000000,0.000000,0.3369
synonymous_variant,FPR3,SILENT,NM_002030.3:p.Gly261Gly/c.783C>T,ggC/ggT,LOW,,0.226637,0.2649,rs3752125,,,,,,chr19,52327784,52327784,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly261Gly/c.783C>T|353|FPR3|protein_coding|CODING|NM_002030.3|2|1),"H1ESC:H3K36me3,CD4:DNase1",,,,0.2556,0.2997,0.2763,0.25,0.13,0.31,,,,,,,,,,,,,,,,
missense_variant,ZNF577,MISSENSE,NM_032679.2:p.Lys246Glu/c.736A>G,Aaa/Gaa,MODERATE,,0.506589,0.3026,rs2288868,1(T),"0.0,0.0(B,B)",-1.07(N),-0.9868(T),,chr19,52376507,52376507,T,C,het,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys187Glu/c.559A>G|426|ZNF577|protein_coding|CODING|NM_001135590.1|7|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys246Glu/c.736A>G|485|ZNF577|protein_coding|CODING|NM_032679.2|7|1),intron_variant(MODIFIER|||n.698+4028A>G||ZNF577||CODING|NR_024181.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.638,0.4553,0.3897,0.47,0.64,0.39,,,1.000(P),"3.19,3.19,3.19,3.19(T,T,T,T)",0.0000(T),0.05,-2.338582,3.1,0.885,-0.119000,-0.108000,-0.289000,0.011000,0.002000,0.000000,7.5218
synonymous_variant,ZNF577,SILENT,NM_032679.2:p.Val97Val/c.291A>T,gtA/gtT,LOW,,0.50639,0.3026,rs8107969,,,,,,chr19,52376952,52376952,T,A,het,"synonymous_variant(LOW|SILENT|gtA/gtT|p.Val97Val/c.291A>T|485|ZNF577|protein_coding|CODING|NM_032679.2|7|1),intron_variant(MODIFIER|||n.698+3583A>T||ZNF577||CODING|NR_024181.1|6|1),intron_variant(MODIFIER|||c.284-170A>T|426|ZNF577|protein_coding|CODING|NM_001135590.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.638,0.4553,0.3897,0.47,0.63,0.39,,,,,,,,,,,,,,,,
missense_variant,ZNF350,MISSENSE,NM_021632.3:p.Arg501Ser/c.1503A>T,agA/agT,MODERATE,,0.175719,0.2331,rs2278415,0.02(D),0.032(B),0.695(N),-0.9527(T),,chr19,52468203,52468203,T,A,hom,"missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg501Ser/c.1503A>T|532|ZNF350|protein_coding|CODING|NM_021632.3|5|1),intron_variant(MODIFIER|||n.103-11441T>A||ZNF350-AS1||NON_CODING|NR_103847.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.1297,0.1471,0.13,0.14,0.13,,,1.000(P),3.47(T),0.0000(T),0.105,2.543957,3.04,1.96,0.402000,0.234000,-0.260000,0.667000,0.003000,0.000000,7.2522
synonymous_variant,ZNF350,SILENT,NM_021632.3:p.Pro373Pro/c.1119C>A,ccC/ccA,LOW,,0.175719,0.2331,rs3764538,,,,,,chr19,52468587,52468587,G,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro373Pro/c.1119C>A|532|ZNF350|protein_coding|CODING|NM_021632.3|5|1),intron_variant(MODIFIER|||n.103-11057G>T||ZNF350-AS1||NON_CODING|NR_103847.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2771,0.1297,0.1471,0.13,0.14,0.13,,,,,,,,,,,,,,,,
synonymous_variant,ZNF350,SILENT,NM_021632.3:p.Cys236Cys/c.708T>C,tgT/tgC,LOW,COSM4000857(1),0.227436,0.2331,rs4988334,,,,,,chr19,52468998,52468998,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys236Cys/c.708T>C|532|ZNF350|protein_coding|CODING|NM_021632.3|5|1),intron_variant(MODIFIER|||n.103-10646A>G||ZNF350-AS1||NON_CODING|NR_103847.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2791,0.1499,0.1521,0.19,0.30,0.14,,,,,,,,,,,,,,,,
missense_variant,ZNF350,MISSENSE,NM_021632.3:p.Leu66Pro/c.197T>C,cTg/cCg,MODERATE,,0.266973,0.2371,rs2278420,1(T),0.0(B),-1.495(N),-0.9497(T),,chr19,52471872,52471872,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu66Pro/c.197T>C|532|ZNF350|protein_coding|CODING|NM_021632.3|4|1),intron_variant(MODIFIER|||n.103-7772A>G||ZNF350-AS1||NON_CODING|NR_103847.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2945,0.1801,0.1889,0.23,0.38,0.16,,,1.000(P),3.74(T),0.0000(T),0.029,-3.172985,3.17,0.908,-1.078000,-0.194000,-0.105000,0.042000,0.001000,0.000000,2.7498
synonymous_variant,ZNF350,SILENT,NM_021632.3:p.Asp35Asp/c.105T>C,gaT/gaC,LOW,COSM4132358(1),0.457867,0.2966,rs4986773,,,,,,chr19,52472295,52472295,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp35Asp/c.105T>C|532|ZNF350|protein_coding|CODING|NM_021632.3|3|1),intron_variant(MODIFIER|||n.103-7349A>G||ZNF350-AS1||NON_CODING|NR_103847.1|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6063,0.3012,0.2962,0.39,0.62,0.26,,,,,,,,,,,,,,,,
missense_variant,ZNF615,MISSENSE,NM_001199324.1:p.Arg738Lys/c.2213G>A,aGg/aAg,MODERATE,COSM148710(4),0.477436,0.3948,rs16983353,0.14(T),"0.0,0.0,0.0(B,B,B)",-0.14(N),-0.9578(T),,chr19,52496149,52496149,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg738Lys/c.2213G>A|742|ZNF615|protein_coding|CODING|NM_001199324.1|7|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg727Lys/c.2180G>A|731|ZNF615|protein_coding|CODING|NM_198480.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.6125,0.3977,0.3131,0.38,0.58,0.28,,,1.000(P),"1.32,1.32(T,T)",0.0000(T),0.02,0.643567,3.53,2.5,-0.254000,0.108000,-0.207000,0.730000,0.003000,0.000000,6.1118
missense_variant,ZNF615,MISSENSE,NM_001199324.1:p.Thr371Ile/c.1112C>T,aCt/aTt,MODERATE,COSM148712(4),0.476038,0.3929,rs1978717,1(T),"0.001,0.001,0.0(B,B,B)",0.21(N),-0.9661(T),,chr19,52497250,52497250,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr371Ile/c.1112C>T|742|ZNF615|protein_coding|CODING|NM_001199324.1|7|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr360Ile/c.1079C>T|731|ZNF615|protein_coding|CODING|NM_198480.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6084,0.3977,0.3121,0.38,0.58,0.28,,,1.000(P),"3.15,3.15(T,T)",0.0000(T),0.008,-4.047464,3.08,-3.42,-2.772000,-2.010000,-0.987000,0.012000,0.000000,0.000000,9.9817
missense_variant,ZNF615,MISSENSE,NM_001199324.1:p.Thr140Met/c.419C>T,aCg/aTg,MODERATE,COSM148714(4),0.476837,0.3929,rs10500311,0.21(T),"0.004,0.004,0.001(B,B,B)",0(N),-1.0189(T),,chr19,52497943,52497943,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr140Met/c.419C>T|742|ZNF615|protein_coding|CODING|NM_001199324.1|7|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr129Met/c.386C>T|731|ZNF615|protein_coding|CODING|NM_198480.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6125,0.3977,0.3121,0.38,0.58,0.28,,,1.000(P),"3.15,3.13(T,T)",0.0000(T),0.028,-0.300886,2.33,1.3,-0.302000,0.341000,0.558000,0.000000,0.004000,0.000000,4.1627
missense_variant,ZNF614,MISSENSE,NM_025040.3:p.Val415Ile/c.1243G>A,Gtt/Att,MODERATE,COSM3757116(1),0.403355,0.4038,rs8104890,1(T),0.002(B),0.41(N),-0.9234(T),,chr19,52519608,52519608,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val415Ile/c.1243G>A|585|ZNF614|protein_coding|CODING|NM_025040.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6063,0.3444,0.2773,0.30,0.38,0.27,,,1.000(P),3.18(T),0.0000(T),0.01,-1.094924,3.5,-0.11,-1.216000,-0.247000,-1.520000,0.857000,0.000000,0.000000,4.0797
missense_variant,ZNF614,MISSENSE,NM_025040.3:p.Gly82Arg/c.244G>A,Ggg/Agg,MODERATE,,0.256789,0.3998,rs61574510,0.43(T),"0.001,0.001(B,B)",0.205(N),-0.9172(T),,chr19,52520607,52520607,C,T,hom,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly82Arg/c.244G>A|585|ZNF614|protein_coding|CODING|NM_025040.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3057,0.2363,0.2147,0.18,0.15,0.19,,,1.000(P),"5.99,3.31(T,T)",0.0000(T),0.024,-1.178794,3.28,-3.3,-1.405000,-0.845000,-2.865000,0.030000,0.001000,0.000000,5.2232
missense_variant,ZNF614,MISSENSE,NM_025040.3:p.Thr68Ile/c.203C>T,aCa/aTa,MODERATE,COSM3757118(1),0.542931,0.5238,rs9636139,1(T),"0.003,0.008(B,B)",-0.38(N),-1.0083(T),,chr19,52521296,52521296,G,A,hom,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr68Ile/c.203C>T|585|ZNF614|protein_coding|CODING|NM_025040.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6104,0.4438,0.2813,0.42,0.71,0.27,,,1.000(P),"6.15,3.39(T,T)",0.0000(T),0.005,-1.417940,2.85,-0.514,-0.332000,-0.570000,-0.216000,0.308000,0.000000,0.000000,5.233
synonymous_variant,ZNF432,SILENT,NM_014650.2:p.Thr452Thr/c.1356A>C,acA/acC,LOW,COSM148715(2),0.560503,0.5228,rs11666149,,,,,,chr19,52537576,52537576,T,G,hom,synonymous_variant(LOW|SILENT|acA/acC|p.Thr452Thr/c.1356A>C|652|ZNF432|protein_coding|CODING|NM_014650.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:H3K9me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6503,0.4697,0.3131,0.44,0.71,0.30,,,,,,,,,,,,,,,,
synonymous_variant,ZNF836,SILENT,NM_001102657.1:p.Tyr315Tyr/c.945T>C,taT/taC,LOW,,0.496605,0.5714,rs1821278,,,,,,chr19,52659991,52659991,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr315Tyr/c.945T>C|936|ZNF836|protein_coding|CODING|NM_001102657.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5491,0.3746,0.2505,0.37,0.59,0.26,,,,,,,,,,,,,,,,
synonymous_variant,ZNF836,SILENT,NM_001102657.1:p.Lys247Lys/c.741A>G,aaA/aaG,LOW,,0.000399361,0,rs201484430,,,,,,chr19,52660195,52660195,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys247Lys/c.741A>G|936|ZNF836|protein_coding|CODING|NM_001102657.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0,0,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,ZNF836,MISSENSE,NM_001102657.1:p.Met219Ile/c.657G>A,atG/atA,MODERATE,COSM3757129(1),0.477436,0.5714,rs1366245,0.2(T),0.0(B),-0.22(N),-1.0022(T),,chr19,52660279,52660279,C,T,het,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met219Ile/c.657G>A|936|ZNF836|protein_coding|CODING|NM_001102657.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5491,0.366,0.2475,0.34,0.52,0.25,,,1.000(P),2.52(T),0.0000(T),0.008,-0.102708,1.49,1.49,-0.572000,-0.119000,-1.870000,0.001000,0.001000,0.000000,2.2789
synonymous_variant,ZNF836,SILENT,NM_001102657.1:p.Pro51Pro/c.153T>C,ccT/ccC,LOW,COSM4000860(1),0.195487,0.1716,rs17696575,,,,,,chr19,52660783,52660783,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro51Pro/c.153T>C|936|ZNF836|protein_coding|CODING|NM_001102657.1|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3",,,,0.3814,0.2075,0.1521,0.14,0.11,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ZNF480,SILENT,NM_144684.3:p.Ser244Ser/c.732A>G,tcA/tcG,LOW,COSM4000864(2),0.526358,0.3998,rs8102373,,,,,,chr19,52825235,52825235,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser201Ser/c.603A>G|492|ZNF480|protein_coding|CODING|NM_001297624.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser167Ser/c.501A>G|458|ZNF480|protein_coding|CODING|NM_001297625.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser244Ser/c.732A>G|535|ZNF480|protein_coding|CODING|NM_144684.3|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5654,0.5101,0.6123,0.57,0.53,0.59,,,,,,,,,,,,,,,,
missense_variant,ZNF610,MISSENSE,NM_001161425.1:p.Ala131Ser/c.391G>T,Gca/Tca,MODERATE,COSM4000865(1),0.824481,0.6538,rs2241586,1(T),"0.0,0.0(B,B)",-1.3(N),-0.9610(T),,chr19,52869022,52869022,G,T,hom,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala131Ser/c.391G>T|462|ZNF610|protein_coding|CODING|NM_001161425.1|6|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala131Ser/c.391G>T|462|ZNF610|protein_coding|CODING|NM_001161426.1|6|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala88Ser/c.262G>T|419|ZNF610|protein_coding|CODING|NM_001161427.1|5|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala131Ser/c.391G>T|462|ZNF610|protein_coding|CODING|NM_173530.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8947,0.8012,0.9006,0.87,0.85,0.88,,,1.000(P),"3.55,3.55(T,T)",0.0000(T),0.08,-4.565087,1.11,-2.21,-2.491000,-3.448000,-0.736000,0.010000,0.000000,0.002000,5.3289
missense_variant,ZNF610,MISSENSE,NM_001161425.1:p.Arg216Pro/c.647G>C,cGt/cCt,MODERATE,,0.811102,0.6419,rs321937,0.22(T),"0.0,0.0(B,B)",-0.345(N),-1.0901(T),,chr19,52869278,52869278,G,C,hom,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg216Pro/c.647G>C|462|ZNF610|protein_coding|CODING|NM_001161425.1|6|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg216Pro/c.647G>C|462|ZNF610|protein_coding|CODING|NM_001161426.1|6|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg173Pro/c.518G>C|419|ZNF610|protein_coding|CODING|NM_001161427.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg216Pro/c.647G>C|462|ZNF610|protein_coding|CODING|NM_173530.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8926,0.7954,0.9006,0.86,0.82,0.88,,,1.000(P),"4.29,4.29(T,T)",0.0000(T),0.1,0.005798,1.64,-1.62,-1.474000,-1.309000,-1.124000,0.000000,0.000000,0.003000,7.3999
synonymous_variant,ZNF610,SILENT,NM_001161425.1:p.Thr227Thr/c.681T>C,acT/acC,LOW,,0.786741,0.5268,rs162120,,,,,,chr19,52869312,52869312,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr227Thr/c.681T>C|462|ZNF610|protein_coding|CODING|NM_001161425.1|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr227Thr/c.681T>C|462|ZNF610|protein_coding|CODING|NM_001161426.1|6|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr184Thr/c.552T>C|419|ZNF610|protein_coding|CODING|NM_001161427.1|5|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr227Thr/c.681T>C|462|ZNF610|protein_coding|CODING|NM_173530.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8885,0.7666,0.8966,0.86,0.83,0.87,,,,,,,,,,,,,,,,
synonymous_variant,ZNF610,SILENT,NM_001161425.1:p.Ser301Ser/c.903G>A,tcG/tcA,LOW,COSM148719(1),0.802716,0.6151,rs162119,,,,,,chr19,52869534,52869534,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser301Ser/c.903G>A|462|ZNF610|protein_coding|CODING|NM_001161425.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser301Ser/c.903G>A|462|ZNF610|protein_coding|CODING|NM_001161426.1|6|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser258Ser/c.774G>A|419|ZNF610|protein_coding|CODING|NM_001161427.1|5|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser301Ser/c.903G>A|462|ZNF610|protein_coding|CODING|NM_173530.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8763,0.7911,0.8966,0.86,0.83,0.87,,,,,,,,,,,,,,,,
missense_variant,ZNF880,MISSENSE,NM_001145434.1:p.Arg198Ser/c.594A>C,agA/agC,MODERATE,COSM4132361(1),0.379393,0.3462,rs8104808,,0.001(B),-1.53(N),-0.9422(T),,chr19,52887427,52887427,A,C,hom,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg198Ser/c.594A>C|577|ZNF880|protein_coding|CODING|NM_001145434.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5562,0.379,0.4205,0.35,0.28,0.38,,,1.000(P),1.72(T),0.0000(T),0.035,-0.530539,1.84,-2.1,-1.140000,-0.814000,-1.885000,0.001000,0.000000,0.000000,3.0674
missense_variant,ZNF880,MISSENSE,NM_001145434.1:p.Asn202His/c.604A>C,Aat/Cat,MODERATE,COSM4132362(1),0.378794,0.3462,rs8104812,,0.0(B),-3.26(N),-0.9494(T),,chr19,52887437,52887437,A,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn202His/c.604A>C|577|ZNF880|protein_coding|CODING|NM_001145434.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5562,0.379,0.4205,0.35,0.28,0.38,,,1.000(P),2.64(T),0.0000(T),0.016,-2.223193,1.84,0.682,-1.160000,-0.288000,0.069000,0.000000,0.000000,0.000000,5.3499
synonymous_variant,ZNF880,SILENT,NM_001145434.1:p.Cys357Cys/c.1071T>C,tgT/tgC,LOW,COSM1395918(1),,,rs2042913,,,,,,chr19,52887904,52887904,T,C,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys357Cys/c.1071T>C|577|ZNF880|protein_coding|CODING|NM_001145434.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF880,SILENT,NM_001145434.1:p.Thr459Thr/c.1377T>C,acT/acC,LOW,,,,rs56151179,,,,,,chr19,52888210,52888210,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr459Thr/c.1377T>C|577|ZNF880|protein_coding|CODING|NM_001145434.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,,,,0.38,0.38,0.38,,,,,,,,,,,,,,,,
missense_variant,ZNF880,MISSENSE,NM_001145434.1:p.Lys471Arg/c.1412A>G,aAg/aGg,MODERATE,COSM4132376(1),0.411542,0.3492,rs55748277,,0.917(D),1.095(L),-0.9372(T),,chr19,52888245,52888245,A,G,hom,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys471Arg/c.1412A>G|577|ZNF880|protein_coding|CODING|NM_001145434.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5562,0.3919,0.4205,0.38,0.38,0.38,,,0.000(P),1.75(T),0.0000(T),0.019,2.296527,2.03,-0.46,0.450000,-0.387000,1.664000,0.010000,0.007000,0.060000,6.4253
missense_variant,ZNF534,MISSENSE,NM_001143939.1:p.Thr70Asn/c.209C>A,aCc/aAc,MODERATE,COSM4000870(2),0.820887,0.6587,rs11084161,0.14(T),"0.148,0.0,0.014(B,B,B)",0.575(N),-0.9723(T),,chr19,52938361,52938361,C,A,hom,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr57Asn/c.170C>A|661|ZNF534|protein_coding|CODING|NM_001143938.1|3|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr70Asn/c.209C>A|674|ZNF534|protein_coding|CODING|NM_001143939.1|3|1),missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr57Asn/c.170C>A|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1),intron_variant(MODIFIER|||c.142+1027C>A|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1)",,,,,0.82,0.8977,0.9553,0.93,0.85,0.96,,,1.000(P),"5.66,3.19,5.66(T,T,T)",0.0000(T),0.035,-0.167134,1.67,-2.36,-0.624000,-0.672000,0.304000,0.001000,0.000000,0.028000,4.7774
missense_variant,ZNF534,MISSENSE,NM_001143939.1:p.Ile89Val/c.265A>G,Ata/Gta,MODERATE,COSM4000872(2),0.829872,0.6587,rs11084162,0.5(T),"0.0,0.0,0.014(B,B,B)",-0.975(N),-1.0638(T),,chr19,52938417,52938417,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile76Val/c.226A>G|661|ZNF534|protein_coding|CODING|NM_001143938.1|3|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile89Val/c.265A>G|674|ZNF534|protein_coding|CODING|NM_001143939.1|3|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile76Val/c.226A>G|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1),intron_variant(MODIFIER|||c.142+1083A>G|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1)",,,,,0.82,0.9006,0.9553,0.94,0.87,0.96,,,1.000(P),"5.69,3.24,3.32(T,T,T)",0.0000(T),0.045,-0.782998,0.987,-0.347,-0.473000,-0.574000,-1.370000,0.001000,0.001000,0.000000,1.7168
missense_variant,ZNF534,MISSENSE,NM_001143939.1:p.Thr103Ala/c.307A>G,Aca/Gca,MODERATE,COSM4000875(2),0.830671,0.6587,rs11084163,0.54(T),"0.003,0.006,0.074(B,B,B)",0.91(L),-1.0337(T),,chr19,52938459,52938459,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr90Ala/c.268A>G|661|ZNF534|protein_coding|CODING|NM_001143938.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr103Ala/c.307A>G|674|ZNF534|protein_coding|CODING|NM_001143939.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr90Ala/c.268A>G|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1),intron_variant(MODIFIER|||c.142+1125A>G|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1)",,,,,0.8241,0.9006,0.9553,0.94,0.87,0.96,,,1.000(P),"5.63,3.18,3.21(T,T,T)",0.0000(T),0.048,-1.074012,1.67,-3.31,-3.743000,-2.456000,-1.290000,0.000000,0.000000,0.001000,3.8541
missense_variant,ZNF534,MISSENSE,NM_001143939.1:p.Phe166Ser/c.497T>C,tTc/tCc,MODERATE,COSM4000877(1),0.828075,0.6587,rs1428180,0.25(T),"0.001,0.0(B,B)",-2.755(N),-0.9766(T),,chr19,52941171,52941171,T,C,hom,"missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe153Ser/c.458T>C|661|ZNF534|protein_coding|CODING|NM_001143938.1|4|1),missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe166Ser/c.497T>C|674|ZNF534|protein_coding|CODING|NM_001143939.1|4|1),intron_variant(MODIFIER|||c.142+3837T>C|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1),intron_variant(MODIFIER|||c.271+2709T>C|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1)",,,,,0.82,0.9035,0.9583,0.93,0.84,0.97,,,1.000(P),"3.39,3.44(T,T)",0.0000(T),0.023,-1.028010,1.61,-1.48,-1.063000,-1.250000,-0.479000,0.085000,0.000000,0.000000,3.4547
missense_variant,ZNF534,MISSENSE,NM_001143939.1:p.Gly289Glu/c.866G>A,gGg/gAg,MODERATE,COSM4000878(2),0.828075,0.6587,rs1366257,0.05(D),"0.035,0.007(B,B)",2.495(M),-1.0243(T),,chr19,52941540,52941540,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly276Glu/c.827G>A|661|ZNF534|protein_coding|CODING|NM_001143938.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly289Glu/c.866G>A|674|ZNF534|protein_coding|CODING|NM_001143939.1|4|1),intron_variant(MODIFIER|||c.142+4206G>A|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1),intron_variant(MODIFIER|||c.271+3078G>A|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1)",CD4:H4K20me3,,,,0.82,0.9035,0.9583,0.93,0.84,0.97,,,0.000(P),"2.01,2.01(T,T)",0.0000(T),0.028,0.594421,1.99,0.706,-1.178000,-0.221000,0.523000,0.001000,0.001000,0.067000,8.3027
missense_variant,ZNF534,MISSENSE,NM_001143939.1:p.Glu315Ala/c.944A>C,gAa/gCa,MODERATE,COSM3933158(3),0.828075,0.6587,rs1366258,0.02(D),"0.007,0.593(B,P)",1.635(L),-1.0112(T),,chr19,52941618,52941618,A,C,hom,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu302Ala/c.905A>C|661|ZNF534|protein_coding|CODING|NM_001143938.1|4|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu315Ala/c.944A>C|674|ZNF534|protein_coding|CODING|NM_001143939.1|4|1),intron_variant(MODIFIER|||c.142+4284A>C|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1),intron_variant(MODIFIER|||c.271+3156A>C|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1)",CD4:H4K20me3,,,,0.82,0.9035,0.9583,0.93,0.84,0.97,,,1.000(P),"3.24,3.24(T,T)",0.0000(T),0.126,1.534891,1.82,-1.33,0.383000,-0.706000,-0.242000,0.008000,0.001000,0.000000,3.9892
synonymous_variant,ZNF534,SILENT,NM_001143939.1:p.Gly391Gly/c.1173A>T,ggA/ggT,LOW,COSM4000879(2),0.828075,0.6587,rs1366259,,,,,,chr19,52941847,52941847,A,T,hom,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly378Gly/c.1134A>T|661|ZNF534|protein_coding|CODING|NM_001143938.1|4|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly391Gly/c.1173A>T|674|ZNF534|protein_coding|CODING|NM_001143939.1|4|1),intron_variant(MODIFIER|||c.142+4513A>T|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1),intron_variant(MODIFIER|||c.271+3385A>T|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1)",CD4:H4K20me3,,,,0.82,0.9035,0.9583,0.93,0.84,0.97,,,,,,,,,,,,,,,,
synonymous_variant,ZNF534,SILENT,NM_001143939.1:p.Gln495Gln/c.1485A>G,caA/caG,LOW,COSM4000880(2),0.828075,0.6587,rs2608497,,,,,,chr19,52942159,52942159,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln482Gln/c.1446A>G|661|ZNF534|protein_coding|CODING|NM_001143938.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln495Gln/c.1485A>G|674|ZNF534|protein_coding|CODING|NM_001143939.1|4|1),intron_variant(MODIFIER|||c.142+4825A>G|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1),intron_variant(MODIFIER|||c.271+3697A>G|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1)",CD4:H4K20me3,,,,0.82,0.9035,0.9583,0.93,0.84,0.96,,,,,,,,,,,,,,,,
missense_variant,ZNF534,MISSENSE,NM_001143939.1:p.His591Tyr/c.1771C>T,Cac/Tac,MODERATE,COSM4000881(2),0.873602,0.6587,rs2608498,1(T),"0.0,0.0(B,B)",-0.745(N),-1.0022(T),,chr19,52942445,52942445,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His578Tyr/c.1732C>T|661|ZNF534|protein_coding|CODING|NM_001143938.1|4|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His591Tyr/c.1771C>T|674|ZNF534|protein_coding|CODING|NM_001143939.1|4|1),intron_variant(MODIFIER|||c.142+5111C>T|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1),intron_variant(MODIFIER|||c.271+3983C>T|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1)",CD4:H4K20me3,,,,0.82,0.9193,0.9602,0.97,0.98,0.97,,,1.000(P),"2.53,2.53(T,T)",0.0000(T),0.066,-1.943369,1.73,0.658,-1.086000,-0.056000,0.207000,0.001000,0.000000,0.000000,6.2038
synonymous_variant,ZNF534,SILENT,NM_001143939.1:p.Ala607Ala/c.1821G>A,gcG/gcA,LOW,COSM4000882(2),0.828075,0.6587,rs2561001,,,,,,chr19,52942495,52942495,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala594Ala/c.1782G>A|661|ZNF534|protein_coding|CODING|NM_001143938.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala607Ala/c.1821G>A|674|ZNF534|protein_coding|CODING|NM_001143939.1|4|1),intron_variant(MODIFIER|||c.142+5161G>A|150|ZNF534|protein_coding|CODING|NM_001291369.1|2|1),intron_variant(MODIFIER|||c.271+4033G>A|193|ZNF534|protein_coding|CODING|NM_001291368.1|3|1)",CD4:H4K20me3,,,,0.82,0.9035,0.9583,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF534,SILENT,NM_001291368.1:p.Ala113Ala/c.339T>C,gcT/gcC,LOW,COSM4132387(1),0.842652,0.6567,rs324104,,,,,,chr19,52954507,52954507,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala113Ala/c.339T>C|193|ZNF534|protein_coding|CODING|NM_001291368.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala70Ala/c.210T>C|150|ZNF534|protein_coding|CODING|NM_001291369.1|3|1)",,,,,0.819,0.9121,0.9583,0.95,0.91,0.97,,,,,,,,,,,,,,,,
missense_variant,ZNF578,MISSENSE,NM_001099694.1:p.Glu238Lys/c.712G>A,Gaa/Aaa,MODERATE,,0.765176,0.6647,rs161931,,0.0(B),-2.075(N),-1.0275(T),,chr19,53014346,53014346,G,A,hom,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu238Lys/c.712G>A|590|ZNF578|protein_coding|CODING|NM_001099694.1|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.684,0.7997,0.6412,0.72,0.93,0.62,,,1.000(P),,0.0000(T),0.063,-1.559240,1.48,1.48,-1.047000,-0.092000,0.238000,0.079000,0.001000,0.000000,5.5843
missense_variant,ZNF808,MISSENSE,NM_001039886.3:p.Asp262Asn/c.784G>A,Gat/Aat,MODERATE,COSM3757138(1),0.217252,0.0754,rs329965,1(T),0.557(P),0.855(L),-1.0395(T),,chr19,53056953,53056953,G,A,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp262Asn/c.784G>A|903|ZNF808|protein_coding|CODING|NM_001039886.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2648,0.2983,0.3022,0.26,0.19,0.29,,,1.000(P),3.18(T),0.0000(T),0.004,1.083267,1.57,-1.46,0.305000,-0.660000,-2.115000,0.168000,0.023000,0.000000,2.604
missense_variant,ZNF808,MISSENSE,NM_001039886.3:p.Arg754Cys/c.2260C>T,Cgt/Tgt,MODERATE,,0.00559105,0,rs117861190,0.01(D),0.978(D),2.615(M),-0.9860(T),,chr19,53058429,53058429,C,T,het,missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg754Cys/c.2260C>T|903|ZNF808|protein_coding|CODING|NM_001039886.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0,0.0043,0.0229,0.01,0.00,0.02,,,1.000(N),1.17(T),0.1039(T),0.082,1.422531,1.41,-1.4,0.205000,-0.124000,0.878000,0.061000,0.001000,0.004000,5.1035
missense_variant,ZNF701,MISSENSE,NM_001172655.1:p.Asp9Tyr/c.25G>T,Gat/Tat,MODERATE,,0.348642,0.2222,rs8104138,0.12(T),0.094(B),1.24(L),-0.9982(T),,chr19,53075519,53075519,G,T,het,"missense_variant(MODERATE|MISSENSE|Gat/Tat|p.Asp9Tyr/c.25G>T|531|ZNF701|protein_coding|CODING|NM_001172655.1|2|1),intron_variant(MODIFIER|||c.-71-1811G>T|465|ZNF701|protein_coding|CODING|NM_018260.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.3372,0.4702,,,,,,1.000(P),"4.78,4.78(T,T)",0.0000(T),0.089,0.995452,0.158,0.158,0.205000,0.202000,0.228000,0.014000,0.014000,0.016000,.
missense_variant,ZNF701,MISSENSE,NM_001172655.1:p.Leu70Pro/c.209T>C,cTt/cCt,MODERATE,,0.714457,0.4276,rs162832,,"0.0,0.0(B,B)",-0.345(N),-1.0786(T),,chr19,53077411,53077411,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu70Pro/c.209T>C|531|ZNF701|protein_coding|CODING|NM_001172655.1|3|1),missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu4Pro/c.11T>C|465|ZNF701|protein_coding|CODING|NM_018260.2|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7198,0.6758,0.7227,0.79,0.91,0.73,,,1.000(P),"5.65,5.65,5.65(T,T,T)",0.0000(T),0.105,0.052590,1.53,-2.36,-0.665000,-1.123000,-0.042000,0.440000,0.001000,0.025000,3.4633
missense_variant,ZNF701,MISSENSE,NM_001172655.1:p.Thr182Ile/c.545C>T,aCc/aTc,MODERATE,,0.644169,0.497,rs366793,0.34(T),"0.0,0.0(B,B)",-1.095(N),-1.0795(T),,chr19,53085659,53085659,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr182Ile/c.545C>T|531|ZNF701|protein_coding|CODING|NM_001172655.1|5|1),missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr116Ile/c.347C>T|465|ZNF701|protein_coding|CODING|NM_018260.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7106,0.6182,0.7117,0.71,0.67,0.73,,,1.000(P),"3.48,3.51,3.51(T,T,T)",0.0000(T),0.052,-0.884709,1.81,-1.3,-0.848000,-0.539000,0.077000,0.000000,0.000000,0.000000,3.692
synonymous_variant,ZNF701,SILENT,NM_001172655.1:p.Ala233Ala/c.699T>C,gcT/gcC,LOW,COSM3757141(2),0.289736,0.3681,rs3745101,,,,,,chr19,53085813,53085813,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala233Ala/c.699T>C|531|ZNF701|protein_coding|CODING|NM_001172655.1|5|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala167Ala/c.501T>C|465|ZNF701|protein_coding|CODING|NM_018260.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4611,0.2839,0.3608,0.29,0.09,0.39,,,,,,,,,,,,,,,,
missense_variant,ZNF701,MISSENSE,NM_001172655.1:p.Thr337Lys/c.1010C>A,aCg/aAg,MODERATE,COSM3757143(1),0.64397,0.497,rs373554,1(T),"0.0,0.0(B,B)",-1.405(N),-0.9934(T),,chr19,53086124,53086124,C,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr337Lys/c.1010C>A|531|ZNF701|protein_coding|CODING|NM_001172655.1|5|1),missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr271Lys/c.812C>A|465|ZNF701|protein_coding|CODING|NM_018260.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7106,0.6182,0.7117,0.71,0.67,0.73,,,1.000(P),"2.33,2.33,2.33(T,T,T)",0.0000(T),0.07,-2.082247,1.98,-0.451,-2.053000,-0.996000,-1.575000,0.006000,0.001000,0.000000,5.8144
synonymous_variant,ZNF701,SILENT,NM_001172655.1:p.Phe457Phe/c.1371T>C,ttT/ttC,LOW,COSM3757145(1),0.0247604,0.001,rs62117247,,,,,,chr19,53086485,53086485,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe457Phe/c.1371T>C|531|ZNF701|protein_coding|CODING|NM_001172655.1|5|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe391Phe/c.1173T>C|465|ZNF701|protein_coding|CODING|NM_018260.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0123,0.036,0.0636,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF701,MISSENSE,NM_001172655.1:p.Arg495His/c.1484G>A,cGt/cAt,MODERATE,COSM3757146(3),0.282947,0.3373,rs3745102,0.36(T),"0.003,0.001(B,B)",1.325(L),-0.9130(T),,chr19,53086598,53086598,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg495His/c.1484G>A|531|ZNF701|protein_coding|CODING|NM_001172655.1|5|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg429His/c.1286G>A|465|ZNF701|protein_coding|CODING|NM_018260.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.4591,0.2839,0.3598,,,,,,1.000(P),"2.21,2.21,2.21(T,T,T)",0.0000(T),0.03,0.050616,1.98,-2.21,-0.598000,-0.969000,-1.539000,0.000000,0.000000,0.000000,7.8679
missense_variant,ZNF83,MISSENSE,NM_001105549.1:p.Ser96Asn/c.287G>A,aGt/aAt,MODERATE,,0.712859,0.7063,rs1056185,1(T),"0.0,0.0(B,B)",0.055(N),-0.9803(T),,chr19,53117531,53117531,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001105549.1|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001105550.1|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001105551.1|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001105552.1|4|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001277945.1|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001277946.1|4|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001277947.1|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001277948.1|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001277949.1|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001277951.1|3|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_001277952.1|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser96Asn/c.287G>A|516|ZNF83|protein_coding|CODING|NM_018300.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5368,0.7435,0.6431,0.67,0.81,0.59,,,1.000(P),"1.61,1.61,1.61,1.61,1.61,3.07(T,T,T,T,T,T)",0.0000(T),0.015,-2.251714,1.87,-2.41,-1.411000,-1.441000,-1.362000,0.006000,0.000000,0.000000,7.568
synonymous_variant,ZNF83,SILENT,NM_001105549.1:p.Gly3Gly/c.9G>T,ggG/ggT,LOW,,0.71266,0.7044,rs10406458,,,,,,chr19,53117809,53117809,C,A,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001105549.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001105550.1|5|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001105551.1|5|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001105552.1|4|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001277945.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001277946.1|4|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001277947.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001277948.1|5|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001277949.1|5|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001277951.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_001277952.1|5|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly3Gly/c.9G>T|516|ZNF83|protein_coding|CODING|NM_018300.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5368,0.7435,0.6392,0.67,0.81,0.59,,,,,,,,,,,,,,,,
missense_variant,ZNF611,MISSENSE,NM_001161499.1:p.Pro252Leu/c.755C>T,cCc/cTc,MODERATE,COSM148721(5),0.438698,0.3681,rs4085566,0.04(D),0.002(B),-0.75(N),-1.0135(T),,chr19,53209553,53209553,G,A,het,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro252Leu/c.755C>T|705|ZNF611|protein_coding|CODING|NM_001161499.1|6|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro252Leu/c.755C>T|705|ZNF611|protein_coding|CODING|NM_001161500.1|5|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro183Leu/c.548C>T|636|ZNF611|protein_coding|CODING|NM_001161501.1|5|1),missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro252Leu/c.755C>T|705|ZNF611|protein_coding|CODING|NM_030972.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2638,0.3285,0.4105,0.47,0.65,0.37,,,1.000(P),"2.57,2.57,2.57,2.57(T,T,T,T)",0.0000(T),0.046,0.194555,1.2,1.2,-1.220000,-0.303000,-1.050000,0.006000,0.025000,0.000000,2.3777
missense_variant,ZNF611,MISSENSE,NM_001161499.1:p.Pro252Thr/c.754C>A,Ccc/Acc,MODERATE,COSM3757148(2),0.438698,0.3681,rs4085565,0.17(T),0.002(B),-1.35(N),-1.0345(T),,chr19,53209554,53209554,G,T,het,"missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro252Thr/c.754C>A|705|ZNF611|protein_coding|CODING|NM_001161499.1|6|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro252Thr/c.754C>A|705|ZNF611|protein_coding|CODING|NM_001161500.1|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro183Thr/c.547C>A|636|ZNF611|protein_coding|CODING|NM_001161501.1|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Acc|p.Pro252Thr/c.754C>A|705|ZNF611|protein_coding|CODING|NM_030972.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2638,0.3285,0.4105,0.47,0.65,0.37,,,1.000(P),"2.64,2.64,2.64,2.64(T,T,T,T)",0.0000(T),0.059,-0.500665,1.2,1.2,-1.228000,-0.306000,0.006000,0.004000,0.010000,0.000000,6.3535
missense_variant,ZNF600,MISSENSE,NM_198457.2:p.Lys673Asn/c.2019G>C,aaG/aaC,MODERATE,,0.00299521,0,rs117125329,0(D),0.995(D),2.77(M),-1.0939(T),,chr19,53268990,53268990,C,G,het,missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys673Asn/c.2019G>C|722|ZNF600|protein_coding|CODING|NM_198457.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0,0.0014,0.0139,0.01,0.00,0.01,,,1.000(N),3.15(T),0.0461(T),0.034,1.549407,1.69,0.575,0.306000,0.072000,-1.409000,0.005000,0.002000,0.000000,4.9877
missense_variant,ZNF600,MISSENSE,NM_198457.2:p.Cys209Arg/c.625T>C,Tgt/Cgt,MODERATE,COSM4000885(3),0.81889,0.6399,rs1820128,0.28(T),0.0(B),-1.385(N),-1.0567(T),,chr19,53270384,53270384,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys209Arg/c.625T>C|722|ZNF600|protein_coding|CODING|NM_198457.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7382,0.804,0.8668,0.90,0.96,0.86,,,1.000(P),3.22(T),0.0000(T),0.066,-0.918494,1.54,0.308,-1.063000,-0.525000,-3.228000,0.005000,0.001000,0.000000,1.3617
missense_variant,ZNF28,MISSENSE,NM_006969.3:p.Met524Thr/c.1571T>C,aTg/aCg,MODERATE,,0.879792,0.9107,rs8107444,0.07(T),0.0(B),-0.335(N),-1.0138(T),,chr19,53303527,53303527,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met524Thr/c.1571T>C|718|ZNF28|protein_coding|CODING|NM_006969.3|4|1),non_coding_exon_variant(MODIFIER|||n.1846T>C||ZNF28||CODING|NR_036599.1|5|1),non_coding_exon_variant(MODIFIER|||n.1601T>C||ZNF28||CODING|NR_036600.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8579,0.7435,0.9264,0.90,0.88,0.90,,,1.000(P),"2.4,2.4,2.4,2.4,1.11(T,T,T,T,T)",0.0000(T),0.032,-0.439136,1.89,-2.11,-3.764000,-1.158000,-2.802000,0.004000,0.002000,0.000000,0.8997
missense_variant,ZNF28,MISSENSE,NM_006969.3:p.Lys465Gln/c.1393A>C,Aaa/Caa,MODERATE,,0.327077,0.0982,rs10417163,0.03(D),0.966(D),2.185(M),-0.9202(T),,chr19,53303705,53303705,T,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Caa|p.Lys465Gln/c.1393A>C|718|ZNF28|protein_coding|CODING|NM_006969.3|4|1),non_coding_exon_variant(MODIFIER|||n.1668A>C||ZNF28||CODING|NR_036599.1|5|1),non_coding_exon_variant(MODIFIER|||n.1423A>C||ZNF28||CODING|NR_036600.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2628,0.415,0.6014,0.51,0.34,0.59,,,0.999(P),"1.69,1.69,1.69,1.69,1.69(T,T,T,T,T)",0.0000(T),0.145,2.658164,1.74,0.394,0.156000,0.792000,1.576000,0.036000,0.342000,0.007000,6.7522
missense_variant,ZNF468,MISSENSE,NM_001008801.1:p.Gly477Arg/c.1429G>C,Ggt/Cgt,MODERATE,COSM148723(3),0.579872,0.3254,rs10419826,0.37(T),0.0(B),-0.23(N),-1.0840(T),,chr19,53344118,53344118,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ggt/Cgt|p.Gly477Arg/c.1429G>C|522|ZNF468|protein_coding|CODING|NM_001008801.1|4|1),3_prime_UTR_variant(MODIFIER||1163|c.*1163G>C|127|ZNF468|protein_coding|CODING|NM_001277120.1|5|1),non_coding_exon_variant(MODIFIER|||n.1953G>C||ZNF468||CODING|NR_102299.1|6|1),non_coding_exon_variant(MODIFIER|||n.1934G>C||ZNF468||CODING|NR_102300.1|6|1),non_coding_exon_variant(MODIFIER|||n.1835G>C||ZNF468||CODING|NR_102301.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6728,0.6326,0.4135,0.53,0.73,0.42,,,1.000(P),"3.2,3.2(T,T)",0.0000(T),0.02,-0.679015,1.99,0.854,-2.606000,-0.405000,-1.884000,0.007000,0.000000,0.000000,4.2223
missense_variant,ZNF468,MISSENSE,NM_001008801.1:p.Pro151Leu/c.452C>T,cCg/cTg,MODERATE,COSM3757151(4),0.110423,0.0496,rs61729939,0.9(T),0.0(B),-2.015(N),-0.9392(T),,chr19,53345095,53345095,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro151Leu/c.452C>T|522|ZNF468|protein_coding|CODING|NM_001008801.1|4|1),3_prime_UTR_variant(MODIFIER||186|c.*186C>T|127|ZNF468|protein_coding|CODING|NM_001277120.1|5|1),non_coding_exon_variant(MODIFIER|||n.976C>T||ZNF468||CODING|NR_102299.1|6|1),non_coding_exon_variant(MODIFIER|||n.957C>T||ZNF468||CODING|NR_102300.1|6|1),non_coding_exon_variant(MODIFIER|||n.858C>T||ZNF468||CODING|NR_102301.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1176,0.134,0.16,0.14,0.10,0.16,,,1.000(P),"3.63,3.63(T,T)",0.0000(T),0.044,-2.301757,1.71,0.63,-1.197000,0.125000,-0.320000,0.009000,0.001000,0.000000,3.5663
missense_variant,ZNF468,MISSENSE,NM_001277120.1:p.Gln115Pro/c.344A>C,cAg/cCg,MODERATE,COSM148725(2),0.177316,0.2153,rs8100893,,,,,,chr19,53345321,53345321,T,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln115Pro/c.344A>C|127|ZNF468|protein_coding|CODING|NM_001277120.1|5|1),synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg76Arg/c.226A>C|522|ZNF468|protein_coding|CODING|NM_001008801.1|4|1),non_coding_exon_variant(MODIFIER|||n.750A>C||ZNF468||CODING|NR_102299.1|6|1),non_coding_exon_variant(MODIFIER|||n.731A>C||ZNF468||CODING|NR_102300.1|6|1),non_coding_exon_variant(MODIFIER|||n.632A>C||ZNF468||CODING|NR_102301.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.18,0.3401,0.1461,0.13,0.10,0.15,,,,,,,,,,,,,,,,
synonymous_variant,ZNF320,SILENT,NM_207333.2:p.Ala398Ala/c.1194G>A,gcG/gcA,LOW,,0.586262,0.3621,rs6509701,,,,,,chr19,53384185,53384185,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala398Ala/c.1194G>A|509|ZNF320|protein_coding|CODING|NM_207333.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Alzheimer_s_disease,,,0.6299,0.4712,0.7068,0.68,0.67,0.69,,,,,,,,,,,,,,,,
missense_variant,ZNF320,MISSENSE,NM_207333.2:p.Gly185Arg/c.553G>A,Gga/Aga,MODERATE,,0.00119808,0,rs142947258,0.26(T),1.0(D),1.205(L),-1.0441(T),,chr19,53384826,53384826,C,T,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly185Arg/c.553G>A|509|ZNF320|protein_coding|CODING|NM_207333.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.006,0.00,0.00,0.01,,,0.972(N),1.75(T),0.0669(T),0.251,-0.159287,1.69,0.523,0.134000,0.070000,3.152000,0.148000,0.002000,0.221000,7.108
synonymous_variant,ZNF320,SILENT,NM_207333.2:p.Lys23Lys/c.69A>G,aaA/aaG,LOW,COSM1163206(1),,,rs34416642,,,,,,chr19,53391453,53391453,T,C,het,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys23Lys/c.69A>G|509|ZNF320|protein_coding|CODING|NM_207333.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ERVV-2,SILENT,NM_001191055.1:p.Pro207Pro/c.621C>T,ccC/ccT,LOW,COSM3766417(2),0.345647,0.3175,rs150642692,,,,,,chr19,53553125,53553125,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro207Pro/c.621C>T|535|ERVV-2|protein_coding|CODING|NM_001191055.1|2|1),,,,,0.2822,0.4914,0.3817,,,,,,,,,,,,,,,,,,,
synonymous_variant,ERVV-2,SILENT,NM_001191055.1:p.Glu394Glu/c.1182G>A,gaG/gaA,LOW,,0.328874,0.3135,rs12975552,,,,,,chr19,53553686,53553686,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu394Glu/c.1182G>A|535|ERVV-2|protein_coding|CODING|NM_001191055.1|2|1),,,,,0.2832,0.4798,0.3807,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF160,SILENT,NM_001102603.1:p.Leu300Leu/c.900A>G,ctA/ctG,LOW,,0.00698882,0,rs61732582,,,,,,chr19,53572887,53572887,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu300Leu/c.900A>G|818|ZNF160|protein_coding|CODING|NM_001102603.1|7|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu300Leu/c.900A>G|818|ZNF160|protein_coding|CODING|NM_033288.3|6|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu300Leu/c.900A>G|818|ZNF160|protein_coding|CODING|NM_198893.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0041,0.0072,0.0249,0.02,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,ZNF160,MISSENSE,NM_001102603.1:p.Pro82Arg/c.245C>G,cCg/cGg,MODERATE,COSM4132394(1),0.759984,0.6032,rs8105668,0.46(T),"0.001,0.001(B,B)",-1.2(N),-1.0898(T),,chr19,53577419,53577419,G,C,het,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro82Arg/c.245C>G|818|ZNF160|protein_coding|CODING|NM_001102603.1|6|1),missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro82Arg/c.245C>G|818|ZNF160|protein_coding|CODING|NM_033288.3|5|1),missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro82Arg/c.245C>G|818|ZNF160|protein_coding|CODING|NM_198893.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6309,0.7795,0.8082,0.82,0.90,0.78,,,1.000(P),"3.28,3.28,5.76(T,T,T)",0.0000(T),0.032,-4.371085,1.63,-0.839,-0.952000,-0.564000,-0.162000,0.001000,0.000000,0.000000,4.2347
synonymous_variant,ZNF415,SILENT,NM_001136038.2:p.Thr329Thr/c.987A>G,acA/acG,LOW,,0.477436,0.6151,rs4803051,,,,,,chr19,53612311,53612311,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr329Thr/c.987A>G|555|ZNF415|protein_coding|CODING|NM_001136038.2|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr329Thr/c.987A>G|555|ZNF415|protein_coding|CODING|NM_001164309.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr329Thr/c.987A>G|555|ZNF415|protein_coding|CODING|NM_018355.3|4|1),non_coding_exon_variant(MODIFIER|||n.1480A>G||ZNF415||CODING|NR_028343.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5317,0.6254,0.496,0.42,0.28,0.49,,,,,,,,,,,,,,,,
missense_variant,ZNF415,MISSENSE,NM_001136038.2:p.Tyr193Cys/c.578A>G,tAt/tGt,MODERATE,COSM3757160(1),0.166534,0.3363,rs1560099,1(T),"0.0,0.0,0.993,0.0,0.004(B,B,D,B,B)",-1.345(N),-1.0266(T),,chr19,53612720,53612720,T,C,het,"missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr193Cys/c.578A>G|555|ZNF415|protein_coding|CODING|NM_001136038.2|4|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr193Cys/c.578A>G|555|ZNF415|protein_coding|CODING|NM_001164309.1|4|1),missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr193Cys/c.578A>G|555|ZNF415|protein_coding|CODING|NM_018355.3|4|1),non_coding_exon_variant(MODIFIER|||n.1071A>G||ZNF415||CODING|NR_028343.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.0879,0.2911,0.1769,0.12,0.05,0.16,,,1.000(P),"3.79,3.79,3.79,3.79,3.79,3.79(T,T,T,T,T,T)",0.0000(T),0.06,0.141173,2.74,-5.49,0.260000,-1.636000,-1.377000,0.202000,0.000000,0.000000,5.1664
missense_variant,ZNF415,MISSENSE,NM_001136038.2:p.Ile185Val/c.553A>G,Atc/Gtc,MODERATE,,0.544928,0.6131,rs1133327,0.27(T),"0.0,0.0,0.004,0.0,0.0(B,B,B,B,B)",-0.97(N),-1.0620(T),,chr19,53612745,53612745,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile185Val/c.553A>G|555|ZNF415|protein_coding|CODING|NM_001136038.2|4|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile185Val/c.553A>G|555|ZNF415|protein_coding|CODING|NM_001164309.1|4|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile185Val/c.553A>G|555|ZNF415|protein_coding|CODING|NM_018355.3|4|1),non_coding_exon_variant(MODIFIER|||n.1046A>G||ZNF415||CODING|NR_028343.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5317,0.647,0.497,0.49,0.50,0.49,,,1.000(P),"3.26,3.26,3.26,3.26,3.26,3.26(T,T,T,T,T,T)",0.0000(T),0.045,-0.956230,2.74,1.68,-1.741000,0.075000,-1.787000,0.017000,0.000000,0.000000,5.2931
missense_variant,ZNF415,MISSENSE,NM_001136038.2:p.Ile181Leu/c.541A>C,Att/Ctt,MODERATE,,0.544928,0.6131,rs1054485,0.07(T),"0.235,0.118,0.658,0.235,0.729(B,B,P,B,P)",2.235(M),-0.9724(T),,chr19,53612757,53612757,T,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile181Leu/c.541A>C|555|ZNF415|protein_coding|CODING|NM_001136038.2|4|1),missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile181Leu/c.541A>C|555|ZNF415|protein_coding|CODING|NM_001164309.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile181Leu/c.541A>C|555|ZNF415|protein_coding|CODING|NM_018355.3|4|1),non_coding_exon_variant(MODIFIER|||n.1034A>C||ZNF415||CODING|NR_028343.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5317,0.647,0.497,0.49,0.50,0.49,,,1.000(P),"3.34,3.34,3.34,3.34,3.34,3.34(T,T,T,T,T,T)",0.0000(T),0.107,1.621813,2.74,-0.885,0.260000,-0.431000,0.170000,0.092000,0.000000,0.000000,2.6202
synonymous_variant,ZNF415,SILENT,NM_001136038.2:p.Asp103Asp/c.309T>C,gaT/gaC,LOW,COSM148727(2),0.163538,0.3224,rs1054484,,,,,,chr19,53612989,53612989,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp103Asp/c.309T>C|555|ZNF415|protein_coding|CODING|NM_001136038.2|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp103Asp/c.309T>C|555|ZNF415|protein_coding|CODING|NM_001164309.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp103Asp/c.309T>C|555|ZNF415|protein_coding|CODING|NM_018355.3|4|1),non_coding_exon_variant(MODIFIER|||n.802T>C||ZNF415||CODING|NR_028343.1|7|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.0879,0.2896,0.1769,0.12,0.05,0.16,,,,,,,,,,,,,,,,
missense_variant,ZNF347,MISSENSE,NM_001172674.1:p.Asn265Asp/c.793A>G,Aat/Gat,MODERATE,COSM3757161(1),0.631589,0.75,rs2195310,0.25(T),"0.034,0.043(B,B)",0.36(N),-1.0334(T),,chr19,53645291,53645291,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn265Asp/c.793A>G|840|ZNF347|protein_coding|CODING|NM_001172674.1|5|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn265Asp/c.793A>G|840|ZNF347|protein_coding|CODING|NM_001172675.1|5|1),missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn264Asp/c.790A>G|839|ZNF347|protein_coding|CODING|NM_032584.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7618,0.7205,0.6461,0.60,0.45,0.68,,,1.000(P),"1.67,1.67(T,T)",0.0000(T),0.013,-0.071082,2.32,-0.00946,0.533000,-0.204000,0.440000,0.003000,0.001000,0.000000,1.1202
missense_variant,ZNF665,MISSENSE,NM_024733.3:p.Val647Ile/c.1939G>A,Gtc/Atc,MODERATE,,0.517372,0.6438,rs4801958,1(T),0.001(B),-0.355(N),-0.9691(T),,chr19,53667804,53667804,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val647Ile/c.1939G>A|678|ZNF665|protein_coding|CODING|NM_024733.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.7014,0.6499,0.5974,0.48,0.23,0.61,,,1.000(P),3.17(T),0.0000(T),0.011,-1.692993,2.67,2.67,-0.408000,0.262000,-0.034000,0.003000,0.002000,0.000000,5.2111
synonymous_variant,ZNF665,SILENT,NM_024733.3:p.Asn610Asn/c.1830T>C,aaT/aaC,LOW,,0.517572,0.6448,rs12459469,,,,,,chr19,53667913,53667913,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn610Asn/c.1830T>C|678|ZNF665|protein_coding|CODING|NM_024733.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.7014,0.6499,0.5974,0.48,0.23,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ZNF665,SILENT,NM_024733.3:p.Asn601Asn/c.1803T>C,aaT/aaC,LOW,,0.517572,0.6448,rs12459471,,,,,,chr19,53667940,53667940,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn601Asn/c.1803T>C|678|ZNF665|protein_coding|CODING|NM_024733.3|4|1),"H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.7014,0.6499,0.5974,0.48,0.23,0.61,,,,,,,,,,,,,,,,
synonymous_variant,ZNF665,SILENT,NM_024733.3:p.Gly398Gly/c.1194A>C,ggA/ggC,LOW,COSM4000893(1),0.215855,0.0972,rs10409924,,,,,,chr19,53668549,53668549,T,G,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly398Gly/c.1194A>C|678|ZNF665|protein_coding|CODING|NM_024733.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.18,0.1484,0.1342,0.22,0.36,0.15,,,,,,,,,,,,,,,,
missense_variant,ZNF665,MISSENSE,NM_024733.3:p.His157Arg/c.470A>G,cAt/cGt,MODERATE,,0.934704,0.8829,rs4801959,0.13(T),0.0(B),-0.44(N),-1.0383(T),,chr19,53669273,53669273,T,C,hom,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His157Arg/c.470A>G|678|ZNF665|protein_coding|CODING|NM_024733.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,0.9693,0.9597,0.9622,0.95,0.92,0.97,,,1.000(P),3.23(T),0.0000(T),0.013,-0.874327,2.4,-4.79,-1.409000,-2.606000,-4.816000,0.001000,0.000000,0.000000,3.9197
missense_variant,ZNF665,MISSENSE,NM_024733.3:p.Val84Ala/c.251T>C,gTa/gCa,MODERATE,,0.517772,0.6448,rs12460170,0.71(T),0.0(B),0(N),-1.0119(T),,chr19,53669492,53669492,A,G,het,missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val84Ala/c.251T>C|678|ZNF665|protein_coding|CODING|NM_024733.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.7014,0.6499,0.5974,0.49,0.22,0.61,,,1.000(P),3.56(T),0.0000(T),0.008,-1.269469,2.55,0.399,-2.238000,-0.131000,-0.782000,0.001000,0.000000,0.000000,0.5002
synonymous_variant,ZNF677,SILENT,NM_182609.2:p.Glu386Glu/c.1158A>G,gaA/gaG,LOW,COSM148728(2),0.464856,0.752,rs8113436,,,,,,chr19,53740822,53740822,T,C,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu386Glu/c.1158A>G|584|ZNF677|protein_coding|CODING|NM_182609.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.5654,0.4294,0.4324,0.36,0.24,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ZNF677,SILENT,NM_182609.2:p.Ser304Ser/c.912G>A,tcG/tcA,LOW,COSM148729(2),0.464856,0.752,rs12984188,,,,,,chr19,53741068,53741068,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser304Ser/c.912G>A|584|ZNF677|protein_coding|CODING|NM_182609.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5654,0.4294,0.4324,0.36,0.24,0.42,,,,,,,,,,,,,,,,
synonymous_variant,ZNF677,SILENT,NM_182609.2:p.Lys264Lys/c.792G>A,aaG/aaA,LOW,,0.464856,0.752,rs12984473,,,,,,chr19,53741188,53741188,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys264Lys/c.792G>A|584|ZNF677|protein_coding|CODING|NM_182609.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3",,,,0.5654,0.4294,0.4324,0.36,0.24,0.42,,,,,,,,,,,,,,,,
synonymous_variant,VN1R2,SILENT,NM_173856.2:p.Leu303Leu/c.909C>T,ctC/ctT,LOW,COSM3757165(2),0.140974,0.2788,rs12609049,,,,,,chr19,53762537,53762537,C,T,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu303Leu/c.909C>T|395|VN1R2|protein_coding|CODING|NM_173856.2|1|1),,,,,0.2403,0.1153,0.1004,0.07,0.02,0.09,,,,,,,,,,,,,,,,
missense_variant,VN1R4,MISSENSE,NM_173857.2:p.Ala117Gly/c.350C>G,gCa/gGa,MODERATE,,,,rs115785997,0.03(D),0.303(B),2.14(M),-0.9924(T),,chr19,53770569,53770569,G,C,het,missense_variant(MODERATE|MISSENSE|gCa/gGa|p.Ala117Gly/c.350C>G|301|VN1R4|protein_coding|CODING|NM_173857.2|1|1),,,,,,,,0.07,0.13,0.04,,0.544248(N),1.000(N),1.22(T),0.0016(T),0.033,-0.468527,2.28,-0.254,-0.334000,0.038000,0.522000,0.020000,0.002000,0.000000,5.3871
missense_variant,BIRC8,MISSENSE,NM_033341.4:p.His196Tyr/c.586C>T,Cat/Tat,MODERATE,COSM4000895(1),0.5623,0.506,rs8109165,0.01(D),0.01(B),0.805(L),-0.9492(T),,chr19,53793042,53793042,G,A,het,missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His196Tyr/c.586C>T|236|BIRC8|protein_coding|CODING|NM_033341.4|1|1),,,,,0.4857,0.5648,0.5,0.60,0.68,0.55,,,1.000(P),-1.18(T),0.0000(T),0.043,-0.280589,0.502,-1.0,-0.851000,-0.638000,-0.485000,0.013000,0.153000,0.000000,5.2236
synonymous_variant,BIRC8,SILENT,NM_033341.4:p.Val18Val/c.54T>C,gtT/gtC,LOW,,0.602436,0.5069,rs2865248,,,,,,chr19,53793574,53793574,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val18Val/c.54T>C|236|BIRC8|protein_coding|CODING|NM_033341.4|1|1),HepG2:H3K27me3,,,,0.4877,0.5879,0.506,0.64,0.80,0.56,,,,,,,,,,,,,,,,
missense_variant,ZNF845,MISSENSE,NM_138374.1:p.Glu157Gln/c.469G>C,Gaa/Caa,MODERATE,,0.34405,0.4702,rs10415799,0.48(T),0.105(B),1.535(L),-0.9430(T),,chr19,53854397,53854397,G,C,het,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu157Gln/c.469G>C|970|ZNF845|protein_coding|CODING|NM_138374.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3763,0.2882,0.3738,0.34,0.24,0.38,,,1.000(P),3.11(T),0.0000(T),0.042,-0.624000,1.2,-1.38,0.411000,-0.374000,0.057000,0.003000,0.000000,0.000000,3.6513
missense_variant,ZNF845,MISSENSE,NM_138374.1:p.Glu807Asp/c.2421A>T,gaA/gaT,MODERATE,COSM3757168(1),0.203874,0.1052,rs55874600,0.18(T),0.407(B),0.505(N),-0.9607(T),,chr19,53856349,53856349,A,T,het,missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu807Asp/c.2421A>T|970|ZNF845|protein_coding|CODING|NM_138374.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2996,0.2421,0.3946,0.31,0.09,0.41,,,1.000(P),0.99(T),0.0000(T),0.026,0.779021,2.1,-4.2,-0.650000,-0.620000,-6.159000,0.063000,0.000000,0.000000,4.309
missense_variant,ZNF765,MISSENSE,NM_001040185.1:p.Ser389Gly/c.1165A>G,Agc/Ggc,MODERATE,,0.771565,0.6667,rs10425136,,0.002(B),-0.65(N),-1.1094(T),,chr19,53911973,53911973,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser389Gly/c.1165A>G|523|ZNF765|protein_coding|CODING|NM_001040185.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7751,0.8631,0.8598,0.83,0.75,0.86,,,1.000(P),4.51(T),0.0000(T),0.025,-0.854659,1.28,1.28,-0.817000,-0.151000,0.229000,0.048000,0.018000,0.019000,6.6613
synonymous_variant,ZNF765,SILENT,NM_001040185.1:p.Thr478Thr/c.1434G>A,acG/acA,LOW,,0.771166,0.6667,rs10426347,,,,,,chr19,53912242,53912242,G,A,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr478Thr/c.1434G>A|523|ZNF765|protein_coding|CODING|NM_001040185.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.773,0.8631,0.8598,0.83,0.75,0.86,,,,,,,,,,,,,,,,
missense_variant,ZNF761,MISSENSE,NM_001008401.3:p.Ile122Ser/c.365T>G,aTt/aGt,MODERATE,COSM1564249(1),0.64377,0.5278,rs2708743,,,,,,chr19,53958126,53958126,T,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile122Ser/c.365T>G|746|ZNF761|protein_coding|CODING|NM_001008401.3|7|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile122Ser/c.365T>G|746|ZNF761|protein_coding|CODING|NM_001289951.1|6|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile122Ser/c.365T>G|746|ZNF761|protein_coding|CODING|NM_001289952.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5736,0.7666,0.6899,0.69,0.70,0.68,,,,,,,,,,,,,,,,
missense_variant,ZNF761,MISSENSE,NM_001008401.3:p.Val168Ile/c.502G>A,Gtc/Atc,MODERATE,,0.744808,0.5734,rs1984432,,,,,,chr19,53958263,53958263,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val168Ile/c.502G>A|746|ZNF761|protein_coding|CODING|NM_001008401.3|7|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val168Ile/c.502G>A|746|ZNF761|protein_coding|CODING|NM_001289951.1|6|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val168Ile/c.502G>A|746|ZNF761|protein_coding|CODING|NM_001289952.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.727,0.8055,0.7445,0.77,0.83,0.74,,,,,,,,,,,,,,,,
synonymous_variant,ZNF761,SILENT,NM_001008401.3:p.His681His/c.2043T>C,caT/caC,LOW,COSM148731(1),0.145966,0.1349,rs4803129,,,,,,chr19,53959804,53959804,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His681His/c.2043T>C|746|ZNF761|protein_coding|CODING|NM_001008401.3|7|1),synonymous_variant(LOW|SILENT|caT/caC|p.His681His/c.2043T>C|746|ZNF761|protein_coding|CODING|NM_001289951.1|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His681His/c.2043T>C|746|ZNF761|protein_coding|CODING|NM_001289952.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1043,0.1066,0.165,0.17,0.16,0.18,,,,,,,,,,,,,,,,
missense_variant,ZNF813,MISSENSE,NM_001004301.3:p.Ala62Thr/c.184G>A,Gca/Aca,MODERATE,COSM4000904(1),0.298522,0.2421,rs2617667,0.52(T),0.334(B),0.55(N),-0.9701(T),,chr19,53993670,53993670,G,A,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala62Thr/c.184G>A|617|ZNF813|protein_coding|CODING|NM_001004301.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2689,0.2406,0.1918,0.27,0.42,0.19,,,1.000(P),"4.08,3.41,5.14(T,T,T)",0.0000(T),0.193,0.532613,0.678,-1.13,0.205000,-0.301000,-0.243000,0.006000,0.000000,0.000000,4.7006
missense_variant,ZNF813,MISSENSE,NM_001004301.3:p.Ser146Leu/c.437C>T,tCg/tTg,MODERATE,COSM4000905(1),0.20008,0.0615,rs35712939,0.07(T),0.049(B),1.915(M),-0.9443(T),,chr19,53993923,53993923,C,T,het,missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser146Leu/c.437C>T|617|ZNF813|protein_coding|CODING|NM_001004301.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2669,0.2003,0.2565,0.24,0.21,0.26,,,0.429(P),"3.76,3.36(T,T)",0.0000(T),0.108,0.703554,0.961,0.961,0.205000,0.820000,-1.331000,0.055000,0.002000,0.000000,5.2224
synonymous_variant,ZNF813,SILENT,NM_001004301.3:p.Arg506Arg/c.1518G>A,cgG/cgA,LOW,,0.782947,0.6498,rs2708845,,,,,,chr19,53995004,53995004,G,A,hom,synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg506Arg/c.1518G>A|617|ZNF813|protein_coding|CODING|NM_001004301.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7382,0.8084,0.7485,0.79,0.90,0.73,,,,,,,,,,,,,,,,
synonymous_variant,ZNF331,SILENT,NM_001079906.1:p.Arg110Arg/c.330A>G,agA/agG,LOW,COSM148735(1),0.74381,0.6954,rs8109631,,,,,,chr19,54080144,54080144,A,G,hom,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg110Arg/c.330A>G|463|ZNF331|protein_coding|CODING|NM_001079906.1|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg110Arg/c.330A>G|463|ZNF331|protein_coding|CODING|NM_001079907.1|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg110Arg/c.330A>G|463|ZNF331|protein_coding|CODING|NM_001253798.1|7|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg110Arg/c.330A>G|463|ZNF331|protein_coding|CODING|NM_001253799.1|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg110Arg/c.330A>G|463|ZNF331|protein_coding|CODING|NM_001253800.1|6|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg110Arg/c.330A>G|463|ZNF331|protein_coding|CODING|NM_001253801.1|5|1),synonymous_variant(LOW|SILENT|agA/agG|p.Arg110Arg/c.330A>G|463|ZNF331|protein_coding|CODING|NM_018555.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,CD4:PolII,GM06990:H3K36me3",,,,0.7004,0.5965,0.6958,0.77,0.89,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ZNF331,SILENT,NM_001079906.1:p.Gly155Gly/c.465T>C,ggT/ggC,LOW,,0.108626,0,rs1351,,,,,,chr19,54080279,54080279,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly155Gly/c.465T>C|463|ZNF331|protein_coding|CODING|NM_001079906.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly155Gly/c.465T>C|463|ZNF331|protein_coding|CODING|NM_001079907.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly155Gly/c.465T>C|463|ZNF331|protein_coding|CODING|NM_001253798.1|7|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly155Gly/c.465T>C|463|ZNF331|protein_coding|CODING|NM_001253799.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly155Gly/c.465T>C|463|ZNF331|protein_coding|CODING|NM_001253800.1|6|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly155Gly/c.465T>C|463|ZNF331|protein_coding|CODING|NM_001253801.1|5|1),synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly155Gly/c.465T>C|463|ZNF331|protein_coding|CODING|NM_018555.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,CD4:PolII,GM06990:H3K36me3",,,,0.0164,0.0706,0.0726,0.13,0.25,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ZNF331,SILENT,NM_001079906.1:p.Thr322Thr/c.966C>T,acC/acT,LOW,,0.0934505,0,rs16985052,,,,,,chr19,54080780,54080780,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|463|ZNF331|protein_coding|CODING|NM_001079906.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|463|ZNF331|protein_coding|CODING|NM_001079907.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|463|ZNF331|protein_coding|CODING|NM_001253798.1|7|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|463|ZNF331|protein_coding|CODING|NM_001253799.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|463|ZNF331|protein_coding|CODING|NM_001253800.1|6|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|463|ZNF331|protein_coding|CODING|NM_001253801.1|5|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr322Thr/c.966C>T|463|ZNF331|protein_coding|CODING|NM_018555.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,CD4:PolII,GM06990:H3K36me3",,,,0.0164,0.0605,0.0726,0.12,0.21,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ZNF331,SILENT,NM_001079906.1:p.Gly395Gly/c.1185A>G,ggA/ggG,LOW,,0.0934505,0,rs1056393,,,,,,chr19,54080999,54080999,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly395Gly/c.1185A>G|463|ZNF331|protein_coding|CODING|NM_001079906.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly395Gly/c.1185A>G|463|ZNF331|protein_coding|CODING|NM_001079907.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly395Gly/c.1185A>G|463|ZNF331|protein_coding|CODING|NM_001253798.1|7|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly395Gly/c.1185A>G|463|ZNF331|protein_coding|CODING|NM_001253799.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly395Gly/c.1185A>G|463|ZNF331|protein_coding|CODING|NM_001253800.1|6|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly395Gly/c.1185A>G|463|ZNF331|protein_coding|CODING|NM_001253801.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly395Gly/c.1185A>G|463|ZNF331|protein_coding|CODING|NM_018555.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,CD4:PolII,GM06990:H3K36me3",,,,0.0164,0.0605,0.0726,0.12,0.21,0.07,,,,,,,,,,,,,,,,
synonymous_variant,NLRP12,SILENT,NM_001277126.1:p.Leu824Leu/c.2472C>T,ctC/ctT,LOW,COSM4000906(1),0.426717,0.5675,rs12460528,,,,,,chr19,54307322,54307322,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu824Leu/c.2472C>T|1062|NLRP12|protein_coding|CODING|NM_001277126.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu823Leu/c.2469C>T|1004|NLRP12|protein_coding|CODING|NM_001277129.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu823Leu/c.2469C>T|1061|NLRP12|protein_coding|CODING|NM_144687.3|6|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.411,0.5778,0.5805,0.49,0.22,0.62,,,,,,,,,,,,,,,,
synonymous_variant,NLRP12,SILENT,NM_001277126.1:p.Gln799Gln/c.2397G>A,caG/caA,LOW,,0.80631,0.7361,rs4806773,,,,,,chr19,54308554,54308554,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln799Gln/c.2397G>A|1062|NLRP12|protein_coding|CODING|NM_001277126.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln798Gln/c.2394G>A|1004|NLRP12|protein_coding|CODING|NM_001277129.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln798Gln/c.2394G>A|1061|NLRP12|protein_coding|CODING|NM_144687.3|5|1)",,,,,0.8037,0.8631,0.8907,0.85,0.80,0.88,,,,,,,,,,,,,,,,
synonymous_variant,PRKCG,SILENT,NM_002739.3:p.Ala24Ala/c.72C>T,gcC/gcT,LOW,,0.896366,0.9881,rs2547362,,,,,,chr19,54385820,54385820,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala24Ala/c.72C>T|697|PRKCG|protein_coding|CODING|NM_002739.3|1|1),"HUVEC:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,RCV000118063.2,,0.9939,0.9582,0.9523,0.88,0.74,0.96,,,,,,,,,,,,,,,,
synonymous_variant,PRKCG,SILENT,NM_002739.3:p.Asn189Asn/c.567T>C,aaT/aaC,LOW,COSM148736(1),0.329473,0.2946,rs3745406,,,,,,chr19,54394965,54394965,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn189Asn/c.567T>C|697|PRKCG|protein_coding|CODING|NM_002739.3|6|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000118062.2,,0.4274,0.415,0.4195,0.35,0.22,0.41,,,,,,,,,,,,,,,,
missense_variant,VSTM1,MISSENSE,NM_198481.3:p.Ser163Gly/c.487A>G,Agt/Ggt,MODERATE,,0.324081,0.1597,rs2433724,0.4(T),0.0(B),-0.895(N),-0.9081(T),,chr19,54545531,54545531,T,C,het,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser75Gly/c.223A>G|148|VSTM1|protein_coding|CODING|NM_001288791.1|5|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser43Gly/c.127A>G|116|VSTM1|protein_coding|CODING|NM_001288793.1|2|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser163Gly/c.487A>G|236|VSTM1|protein_coding|CODING|NM_198481.3|5|1),splice_region_variant(LOW|||c.223A>G|148|VSTM1|protein_coding|CODING|NM_001288791.1|5|1),splice_region_variant(LOW|||c.127A>G|116|VSTM1|protein_coding|CODING|NM_001288793.1|2|1),splice_region_variant(LOW|||c.487A>G|236|VSTM1|protein_coding|CODING|NM_198481.3|5|1),splice_region_variant(LOW|||n.752A>G||VSTM1||CODING|NR_110142.1|6|1),intron_variant(MODIFIER|||c.395-81A>G|205|VSTM1|protein_coding|CODING|NM_001288792.1|4|1),non_coding_exon_variant(MODIFIER|||n.752A>G||VSTM1||CODING|NR_110142.1|6|1)","HUVEC:H3K27me3,H1ESC:DNase1",,,,0.2147,0.4352,0.4344,0.42,0.39,0.44,,0.719777(N),0.000(P),"6.9,1.04(T,T)",0.0000(T),0.059,-2.287139,3.58,2.55,-0.136000,0.538000,0.186000,0.004000,0.552000,0.183000,6.0866
synonymous_variant,VSTM1,SILENT,NM_198481.3:p.Ala41Ala/c.123C>T,gcC/gcT,LOW,,0.158946,0.1736,rs11669427,,,,,,chr19,54561792,54561792,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala41Ala/c.123C>T|205|VSTM1|protein_coding|CODING|NM_001288792.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala41Ala/c.123C>T|236|VSTM1|protein_coding|CODING|NM_198481.3|3|1),intron_variant(MODIFIER|||c.34+5206C>T|116|VSTM1|protein_coding|CODING|NM_001288793.1|1|1),intron_variant(MODIFIER|||c.15+159C>T|148|VSTM1|protein_coding|CODING|NM_001288791.1|2|1),non_coding_exon_variant(MODIFIER|||n.299C>T||VSTM1||CODING|NR_110142.1|3|1)","GM12878:H3K36me3,H1ESC:H3K27me3",,,,0.2086,0.1888,0.2336,0.18,0.07,0.23,,,,,,,,,,,,,,,,
missense_variant,OSCAR,MISSENSE,NM_206818.2:p.Ile101Ser/c.302T>G,aTt/aGt,MODERATE,,0.866414,0.6984,rs1657535,0.36(T),"0.0,0.002,0.005,0.0,0.004,0.002(B,B,B,B,B,B)",-1.615(N),-0.9906(T),,chr19,54600232,54600232,A,C,hom,"missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile97Ser/c.290T>G|282|OSCAR|protein_coding|CODING|NM_001282349.1|4|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile86Ser/c.257T>G|271|OSCAR|protein_coding|CODING|NM_001282350.1|3|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile101Ser/c.302T>G|267|OSCAR|protein_coding|CODING|NM_130771.4|5|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile86Ser/c.257T>G|252|OSCAR|protein_coding|CODING|NM_133168.4|3|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile97Ser/c.290T>G|263|OSCAR|protein_coding|CODING|NM_133169.4|4|1),missense_variant(MODERATE|MISSENSE|aTt/aGt|p.Ile101Ser/c.302T>G|286|OSCAR|protein_coding|CODING|NM_206818.2|5|1)","HepG2:H3K4me2,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.8978,0.902,0.9851,0.95,0.89,0.97,,0.004383(N),0.999(P),"2.72,2.72,2.72,2.72,2.72,2.72(T,T,T,T,T,T)",0.0000(T),0.063,-1.261769,4.05,3.0,-0.194000,0.322000,1.191000,0.310000,0.988000,0.994000,5.2851
synonymous_variant,CNOT3,SILENT,NM_014516.3:p.Pro243Pro/c.729T>C,ccT/ccC,LOW,COSM4132427(1),0.994609,0.9762,rs36665,,,,-1.0221(T),,chr19,54649671,54649671,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro243Pro/c.729T>C|753|CNOT3|protein_coding|CODING|NM_014516.3|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.998,1,1,1.00,1.00,1.00,,,0.000(P),,0.0000(T),.,1.273574,4.79,-2.02,-0.726000,-0.551000,-4.198000,0.990000,0.979000,0.000000,5.9223
synonymous_variant,CNOT3,SILENT,NM_014516.3:p.Gly405Gly/c.1215T>C,ggT/ggC,LOW,COSM440250(2),0.727037,0.5804,rs386592417,,,,-1.0208(T),,chr19,54652203,54652203,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly405Gly/c.1215T>C|753|CNOT3|protein_coding|CODING|NM_014516.3|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8405,0.6542,0.7942,0.80,0.78,0.81,,,1.000(P),,0.0000(T),.,-1.485226,2.04,-0.357,-2.998000,-0.808000,0.000000,0.005000,0.000000,0.003000,4.7899
missense_variant,TMC4,MISSENSE,NM_001145303.2:p.Gln689Glu/c.2065C>G,Cag/Gag,MODERATE,COSM1163606(3),0.512181,0.255,rs36657,1(T),"0.0,0.002,0.001(B,B,B)",-0.085(N),-0.9713(T),,chr19,54664209,54664209,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln689Glu/c.2065C>G|712|TMC4|protein_coding|CODING|NM_001145303.2|14|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln683Glu/c.2047C>G|706|TMC4|protein_coding|CODING|NM_144686.3|14|1),upstream_gene_variant(MODIFIER||728||264|LENG1|protein_coding|CODING|NM_024316.2||1)","NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HMEC:H3K27ac,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HUVEC:H3K4me2,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,HepG2:H3K4me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3",,,,0.6697,0.4597,0.5268,0.53,0.56,0.52,,0.031925(N),1.000(P),"-0.6,-0.6,-0.6(T,T,T)",0.0000(T),0.029,-0.431517,4.52,-1.94,-0.125000,-0.205000,-0.626000,0.960000,0.364000,0.008000,7.8637
synonymous_variant,TMC4,SILENT,NM_001145303.2:p.Leu618Leu/c.1854T>G,ctT/ctG,LOW,,0.433906,0.2073,rs36656,,,,,,chr19,54664752,54664752,A,C,het,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu618Leu/c.1854T>G|712|TMC4|protein_coding|CODING|NM_001145303.2|13|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu612Leu/c.1836T>G|706|TMC4|protein_coding|CODING|NM_144686.3|13|1),upstream_gene_variant(MODIFIER||1271||264|LENG1|protein_coding|CODING|NM_024316.2||1)","K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,H1ESC:H3K4me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2",,,,0.5828,0.4222,0.5149,0.47,0.42,0.50,,,,,,,,,,,,,,,,
synonymous_variant,TMC4,SILENT,NM_001145303.2:p.Gln524Gln/c.1572G>A,caG/caA,LOW,COSM3757186(3),0.247005,0.1558,rs36655,,,,,,chr19,54665970,54665970,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln524Gln/c.1572G>A|712|TMC4|protein_coding|CODING|NM_001145303.2|11|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln518Gln/c.1554G>A|706|TMC4|protein_coding|CODING|NM_144686.3|11|1)","H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,GM06990:DNase1,K562:DNase1",,,,0.3476,0.2464,0.328,0.28,0.20,0.32,,,,,,,,,,,,,,,,
missense_variant,TMC4,MISSENSE,NM_001145303.2:p.Gly17Glu/c.50G>A,gGg/gAg,MODERATE,,0.373802,0.2173,rs641738,0.99(T),"0.001,0.003(B,B)",1.43(L),-1.0023(T),,chr19,54676763,54676763,C,T,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly17Glu/c.50G>A|712|TMC4|protein_coding|CODING|NM_001145303.2|1|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly17Glu/c.50G>A|706|TMC4|protein_coding|CODING|NM_144686.3|1|1),downstream_gene_variant(MODIFIER||343||399|MBOAT7|protein_coding|CODING|NM_001146056.2||1),downstream_gene_variant(MODIFIER||343||399|MBOAT7|protein_coding|CODING|NM_001146083.2||1),downstream_gene_variant(MODIFIER||343||472|MBOAT7|protein_coding|CODING|NM_024298.4||1)","H1ESC:PolII,NHEK:CTCF,K562:PolII,NHEK:H3K4me3,H1ESC:H3K4me2,H1ESC:DNase1,H1ESC:H3K4me3,GM12878:ZEB1,HMEC:CTCF,HepG2:CTCF,NHEK:DNase1,HMEC:H3K4me3,H1ESC:CTCF",,,,0.5613,0.3429,0.4404,0.41,0.36,0.43,,0.000915(N),1.000(P),"-0.62,-0.67(T,T)",0.0000(T),0.033,1.613979,3.92,0.213,0.462000,0.015000,-1.506000,0.284000,0.000000,0.000000,4.0735
synonymous_variant,MBOAT7,SILENT,NM_024298.4:p.Pro466Pro/c.1398A>G,ccA/ccG,LOW,COSM4132436(1),0.99381,0.9702,rs4806721,,,,,,chr19,54677759,54677759,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro393Pro/c.1179A>G|399|MBOAT7|protein_coding|CODING|NM_001146056.2|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro393Pro/c.1179A>G|399|MBOAT7|protein_coding|CODING|NM_001146083.2|7|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro466Pro/c.1398A>G|472|MBOAT7|protein_coding|CODING|NM_024298.4|8|1),upstream_gene_variant(MODIFIER||815||712|TMC4|protein_coding|CODING|NM_001145303.2||1),upstream_gene_variant(MODIFIER||815||706|TMC4|protein_coding|CODING|NM_144686.3||1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.999,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TSEN34,SILENT,NM_001282333.1:p.Pro268Pro/c.804C>T,ccC/ccT,LOW,,0.748203,0.4802,rs7595,,,,,,chr19,54697079,54697079,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro268Pro/c.804C>T|315|TSEN34|protein_coding|CODING|NM_001282333.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro265Pro/c.795C>T|310|TSEN34|protein_coding|CODING|NM_001077446.3|4|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro265Pro/c.795C>T|310|TSEN34|protein_coding|CODING|NM_001282332.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro265Pro/c.795C>T|310|TSEN34|protein_coding|CODING|NM_024075.4|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Obesity_related_traits,,,0.8384,0.6902,0.827,0.83,0.85,0.82,,,,,,,,,,,,,,,,
synonymous_variant,LILRB3,SILENT,NM_001081450.2:p.Ala516Ala/c.1548C>T,gcC/gcT,LOW,COSM4000913(3),0.230032,0.252,rs1132609,,,,,,chr19,54722275,54722275,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala516Ala/c.1548C>T|632|LILRB3|protein_coding|CODING|NM_001081450.2|11|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala516Ala/c.1548C>T|631|LILRB3|protein_coding|CODING|NM_006864.3|11|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4387,0.2262,0.2883,0.22,0.06,0.30,,,,,,,,,,,,,,,,
synonymous_variant,LILRB3,SILENT,NM_001081450.2:p.Arg465Arg/c.1395A>C,cgA/cgC,LOW,,0.0215655,0,rs61734492,,,,,,chr19,54723029,54723029,T,G,het,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg465Arg/c.1395A>C|632|LILRB3|protein_coding|CODING|NM_001081450.2|8|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg465Arg/c.1395A>C|631|LILRB3|protein_coding|CODING|NM_006864.3|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.002,0.0259,0.0835,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Arg465Leu/c.1394G>T,cGa/cTa,MODERATE,,0.0203674,0,rs61734493,0.18(T),"0.137,0.062,0.008,0.013,0.039,0.051,0.036(B,B,B,B,B,B,B)",1.81(L),-0.9144(T),,chr19,54723030,54723030,C,A,het,"missense_variant(MODERATE|MISSENSE|cGa/cTa|p.Arg465Leu/c.1394G>T|632|LILRB3|protein_coding|CODING|NM_001081450.2|8|1),missense_variant(MODERATE|MISSENSE|cGa/cTa|p.Arg465Leu/c.1394G>T|631|LILRB3|protein_coding|CODING|NM_006864.3|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.002,0.0259,0.0785,0.04,0.01,0.06,,0.000000(N),1.000(N),"7.04,7.04,6.97,7.04,6.99,7.02,7.02,7.04(T,T,T,T,T,T,T,T)",0.0003(T),0.217,1.424541,2.82,0.67,-0.424000,0.294000,-0.092000,0.042000,0.000000,0.000000,4.9124
missense_variant,LILRA6,MISSENSE,NM_024318.3:p.Val456Leu/c.1366G>C,Gtg/Ctg,MODERATE,,0.0215655,0,rs117376661,1(T),0.004(B),0.91(L),-0.9315(T),,chr19,54742900,54742900,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val456Leu/c.1366G>C|478|LILRA6|protein_coding|CODING|NM_024318.3|8|1),intron_variant(MODIFIER|||c.1309+877G>C|632|LILRB3|protein_coding|CODING|NM_001081450.2|7|1),intron_variant(MODIFIER|||c.1309+877G>C|631|LILRB3|protein_coding|CODING|NM_006864.3|7|1),non_coding_exon_variant(MODIFIER|||n.1297G>C||LILRA6||CODING|NR_104098.1|8|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0274,0.0815,0.06,0.02,0.08,,0.000003(N),1.000(N),"6.93,6.8(T,T)",0.0000(T),0.067,1.779274,2.59,-4.11,0.174000,-0.470000,-3.862000,0.085000,0.020000,0.000000,0.8427
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Tyr400Cys/c.1199A>G,tAc/tGc,MODERATE,COSM4132469(1),0.241613,0.2391,rs8105096,0.17(T),"0.033,0.0,0.1(B,B,B)",2.1(M),-0.9472(T),,chr19,54744209,54744209,T,C,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr400Cys/c.1199A>G|632|LILRB3|protein_coding|CODING|NM_001081450.2|6|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr400Cys/c.1199A>G|631|LILRB3|protein_coding|CODING|NM_006864.3|6|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr397Cys/c.1190A>G|478|LILRA6|protein_coding|CODING|NM_024318.3|6|1),non_coding_exon_variant(MODIFIER|||n.1121A>G||LILRA6||CODING|NR_104098.1|6|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.409,0.2089,0.2654,,,,,0.000119(N),1.000(P),"5.74,5.74,5.74(T,T,T)",0.0000(T),0.181,-0.383719,2.39,-4.78,-3.711000,-4.296000,-3.402000,0.008000,0.000000,0.000000,4.2854
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Tyr400His/c.1198T>C,Tac/Cac,MODERATE,COSM4132470(1),0.292732,0.2411,rs8104206,0.57(T),"0.008,0.022,0.012(B,B,B)",-0.12(N),-0.9352(T),,chr19,54744210,54744210,A,G,het,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr400His/c.1198T>C|632|LILRB3|protein_coding|CODING|NM_001081450.2|6|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr400His/c.1198T>C|631|LILRB3|protein_coding|CODING|NM_006864.3|6|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr397His/c.1189T>C|478|LILRA6|protein_coding|CODING|NM_024318.3|6|1),non_coding_exon_variant(MODIFIER|||n.1120T>C||LILRA6||CODING|NR_104098.1|6|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.409,0.2205,0.2664,,,,,0.000119(N),1.000(P),"5.77,5.77,5.77(T,T,T)",0.0000(T),0.093,-0.972591,2.39,-1.47,-1.232000,-0.381000,-1.563000,0.011000,0.000000,0.000000,5.4146
synonymous_variant,LILRB3,SILENT,NM_001081450.2:p.Gly349Gly/c.1047T>G,ggT/ggG,LOW,,0.395168,0.4514,rs2361801,,,,,,chr19,54744361,54744361,A,C,hom,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly349Gly/c.1047T>G|632|LILRB3|protein_coding|CODING|NM_001081450.2|6|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly349Gly/c.1047T>G|631|LILRB3|protein_coding|CODING|NM_006864.3|6|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly346Gly/c.1038T>G|478|LILRA6|protein_coding|CODING|NM_024318.3|6|1),non_coding_exon_variant(MODIFIER|||n.969T>G||LILRA6||CODING|NR_104098.1|6|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4264,0.3818,0.3857,0.34,0.37,0.33,,,,,,,,,,,,,,,,
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Val341Met/c.1021G>A,Gtg/Atg,MODERATE,COSM3757190(1),,,rs71263238,0.1(T),"0.906,0.703,0.996(P,P,D)",2.83(M),-0.9299(T),,chr19,54744387,54744387,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val341Met/c.1021G>A|632|LILRB3|protein_coding|CODING|NM_001081450.2|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val341Met/c.1021G>A|631|LILRB3|protein_coding|CODING|NM_006864.3|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val338Met/c.1012G>A|478|LILRA6|protein_coding|CODING|NM_024318.3|6|1),non_coding_exon_variant(MODIFIER|||n.943G>A||LILRA6||CODING|NR_104098.1|6|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,0.37,0.40,0.36,,0.958912(N),0.299(P),"5.16,5.16,5.16(T,T,T)",0.0000(T),0.277,2.213853,2.16,1.1,0.195000,0.470000,0.793000,0.180000,0.448000,0.006000,4.6406
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Arg205Trp/c.613C>T,Cgg/Tgg,MODERATE,COSM3835696(3),,,rs146470981,0.09(T),"0.004,0.006,0.0,0.003(B,B,B,B)",0.97(L),-0.9089(T),,chr19,54745497,54745497,G,A,het,"missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg202Trp/c.604C>T|478|LILRA6|protein_coding|CODING|NM_024318.3|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg205Trp/c.613C>T|632|LILRB3|protein_coding|CODING|NM_001081450.2|4|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg205Trp/c.613C>T|631|LILRB3|protein_coding|CODING|NM_006864.3|4|1),intron_variant(MODIFIER|||n.580+41C>T||LILRA6||CODING|NR_104098.1|4|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.527713(N),1.000(N),"5.76,5.76,5.76,5.76,5.76(T,T,T,T,T)",0.0029(T),0.152,0.653694,2.38,0.972,0.162000,0.312000,0.029000,0.103000,0.017000,0.000000,4.4216
synonymous_variant,LILRB3,SILENT,NM_001081450.2:p.Thr201Thr/c.603A>G,acA/acG,LOW,,0.430911,0.5685,rs61734496,,,,,,chr19,54745507,54745507,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr198Thr/c.594A>G|478|LILRA6|protein_coding|CODING|NM_024318.3|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr201Thr/c.603A>G|632|LILRB3|protein_coding|CODING|NM_001081450.2|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr201Thr/c.603A>G|631|LILRB3|protein_coding|CODING|NM_006864.3|4|1),intron_variant(MODIFIER|||n.580+31A>G||LILRA6||CODING|NR_104098.1|4|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3088,0.4294,0.3628,,,,,,,,,,,,,,,,,,,
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Thr201Ile/c.602C>T,aCa/aTa,MODERATE,COSM3773910(1),0.403554,0.5675,rs61734497,0.02(D),"0.086,0.845,0.12,0.118,0.343(B,P,B,B,B)",0.975(L),-0.9896(T),,chr19,54745508,54745508,G,A,het,"missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr198Ile/c.593C>T|478|LILRA6|protein_coding|CODING|NM_024318.3|4|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr201Ile/c.602C>T|632|LILRB3|protein_coding|CODING|NM_001081450.2|4|1),missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr201Ile/c.602C>T|631|LILRB3|protein_coding|CODING|NM_006864.3|4|1),intron_variant(MODIFIER|||n.580+30C>T||LILRA6||CODING|NR_104098.1|4|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3057,0.415,0.3628,,,,,0.071197(N),1.000(P),"2.55,2.55,2.55,2.55,2.55(T,T,T,T,T)",0.0468(T),0.127,2.605213,2.38,-4.75,-2.001000,-1.704000,-2.356000,0.003000,0.000000,0.000000,5.4334
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Gln90Glu/c.268C>G,Cag/Gag,MODERATE,COSM4132475(2),0.0886581,0.2798,rs1052963,1(T),"0.003,0.001,0.004,0.004,0.007,0.001,0.008(B,B,B,B,B,B,B)",-0.815(N),-1.0447(T),,chr19,54745989,54745989,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln90Glu/c.268C>G|478|LILRA6|protein_coding|CODING|NM_024318.3|3|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln90Glu/c.268C>G|632|LILRB3|protein_coding|CODING|NM_001081450.2|3|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln90Glu/c.268C>G|631|LILRB3|protein_coding|CODING|NM_006864.3|3|1),non_coding_exon_variant(MODIFIER|||n.285C>G||LILRA6||CODING|NR_104098.1|3|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0276,0.0591,0.0417,0.01,0.01,0.01,,0.004297(N),1.000(N),"2.81,2.81,2.81,2.81,2.81,2.81,2.81(T,T,T,T,T,T,T)",0.0000(T),0.03,-3.083109,3.4,-6.8,-4.115000,-7.095000,-2.130000,0.000000,0.000000,0.000000,1.7009
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Met88Ile/c.264G>A,atG/atA,MODERATE,,0.0800719,0.245,rs11673178,0.34(T),"0.339,0.273,0.024,0.01,0.361,0.101,0.079,0.33,0.611,0.334(B,B,B,B,B,B,B,B,P,B)",2.29(M),-1.0469(T),,chr19,54745993,54745993,C,T,het,"missense_variant(MODERATE|MISSENSE|atG/atA|p.Met88Ile/c.264G>A|478|LILRA6|protein_coding|CODING|NM_024318.3|3|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met88Ile/c.264G>A|632|LILRB3|protein_coding|CODING|NM_001081450.2|3|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met88Ile/c.264G>A|631|LILRB3|protein_coding|CODING|NM_006864.3|3|1),non_coding_exon_variant(MODIFIER|||n.281G>A||LILRA6||CODING|NR_104098.1|3|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0215,0.0533,0.0447,0.01,0.01,0.01,,0.071749(N),1.000(N),"2.88,2.88,2.88,2.88,2.88,2.88,2.88(T,T,T,T,T,T,T)",0.0002(T),0.168,0.049855,3.4,-0.0748,-1.238000,-0.011000,-0.010000,0.002000,0.000000,0.000000,3.5339
missense_variant,LILRB3,MISSENSE,NM_001081450.2:p.Leu69Trp/c.206T>G,tTg/tGg,MODERATE,,,,rs620207,1(T),"0.003,0.001,0.002,0.004,0.162,0.001,0.002,0.002,0.001,0.003(B,B,B,B,B,B,B,B,B,B)",-1.025(N),-0.9472(T),,chr19,54746051,54746051,A,C,hom,"missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu69Trp/c.206T>G|478|LILRA6|protein_coding|CODING|NM_024318.3|3|1),missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu69Trp/c.206T>G|632|LILRB3|protein_coding|CODING|NM_001081450.2|3|1),missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu69Trp/c.206T>G|631|LILRB3|protein_coding|CODING|NM_006864.3|3|1),non_coding_exon_variant(MODIFIER|||n.223T>G||LILRA6||CODING|NR_104098.1|3|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.954165(N),1.000(P),"2.88,2.88,2.88,2.88,2.88,2.88,2.88(T,T,T,T,T,T,T)",0.0000(T),0.156,-1.690115,2.87,-3.51,-1.124000,-1.020000,-1.410000,0.000000,0.000000,0.000000,2.6283
missense_variant,LILRB2,MISSENSE,NM_005874.4:p.Arg322His/c.965G>A,cGt/cAt,MODERATE,,0.322684,0.0863,rs1128646,0.5(T),"0.002,0.004,0.002(B,B,B)",0.85(L),-0.9580(T),,chr19,54782407,54782407,C,T,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg322His/c.965G>A|597|LILRB2|protein_coding|CODING|NM_001080978.3|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg322His/c.965G>A|597|LILRB2|protein_coding|CODING|NM_001278403.2|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg206His/c.617G>A|482|LILRB2|protein_coding|CODING|NM_001278404.2|6|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg322His/c.965G>A|510|LILRB2|protein_coding|CODING|NM_001278405.2|6|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg322His/c.965G>A|455|LILRB2|protein_coding|CODING|NM_001278406.2|6|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg322His/c.965G>A|598|LILRB2|protein_coding|CODING|NM_005874.4|7|1),non_coding_exon_variant(MODIFIER|||n.1097G>A||LILRB2||CODING|NR_103521.2|6|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3753,0.379,0.5716,0.51,0.39,0.57,,0.143261(N),1.000(P),"6.98,6.98,6.98,6.87,6.94(T,T,T,T,T)",0.0000(T),0.11,-1.101637,1.88,-3.77,-4.522000,-3.312000,-1.838000,0.000000,0.000000,0.000000,1.2122
missense_variant,LILRB2,MISSENSE,NM_005874.4:p.Cys306Trp/c.918C>G,tgC/tgG,MODERATE,,0.363219,0.1032,rs7247451,1(T),"0.0,0.0,0.0(B,B,B)",-3.395(N),-0.9972(T),,chr19,54782704,54782704,G,C,het,"missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys306Trp/c.918C>G|597|LILRB2|protein_coding|CODING|NM_001080978.3|6|1),missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys306Trp/c.918C>G|597|LILRB2|protein_coding|CODING|NM_001278403.2|6|1),missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys190Trp/c.570C>G|482|LILRB2|protein_coding|CODING|NM_001278404.2|5|1),missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys306Trp/c.918C>G|510|LILRB2|protein_coding|CODING|NM_001278405.2|5|1),missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys306Trp/c.918C>G|455|LILRB2|protein_coding|CODING|NM_001278406.2|5|1),missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys306Trp/c.918C>G|598|LILRB2|protein_coding|CODING|NM_005874.4|6|1),non_coding_exon_variant(MODIFIER|||n.1050C>G||LILRB2||CODING|NR_103521.2|5|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5031,0.3876,0.5924,,,,,0.349415(N),0.968(P),"6.03,6.03,6.03,6.03,6.03(T,T,T,T,T)",0.0000(T),0.28,-1.576403,2.87,1.76,-0.382000,0.345000,0.439000,0.217000,0.388000,0.862000,4.7929
synonymous_variant,LILRB2,SILENT,NM_005874.4:p.Ser304Ser/c.912T>C,tcT/tcC,LOW,,0.341054,0.1002,rs7247208,,,,,,chr19,54782710,54782710,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser304Ser/c.912T>C|597|LILRB2|protein_coding|CODING|NM_001080978.3|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser304Ser/c.912T>C|597|LILRB2|protein_coding|CODING|NM_001278403.2|6|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser188Ser/c.564T>C|482|LILRB2|protein_coding|CODING|NM_001278404.2|5|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser304Ser/c.912T>C|510|LILRB2|protein_coding|CODING|NM_001278405.2|5|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser304Ser/c.912T>C|455|LILRB2|protein_coding|CODING|NM_001278406.2|5|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser304Ser/c.912T>C|598|LILRB2|protein_coding|CODING|NM_005874.4|6|1),non_coding_exon_variant(MODIFIER|||n.1044T>C||LILRB2||CODING|NR_103521.2|5|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4029,0.3862,0.5865,0.45,0.28,0.53,,,,,,,,,,,,,,,,
missense_variant,LILRB2,MISSENSE,NM_005874.4:p.His300Tyr/c.898C>T,Cac/Tac,MODERATE,COSM4132485(1),0.330072,0.0942,rs7247538,0.08(T),"0.052,0.192,0.052(B,B,B)",0.935(L),-0.9153(T),,chr19,54782724,54782724,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His300Tyr/c.898C>T|597|LILRB2|protein_coding|CODING|NM_001080978.3|6|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His300Tyr/c.898C>T|597|LILRB2|protein_coding|CODING|NM_001278403.2|6|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His184Tyr/c.550C>T|482|LILRB2|protein_coding|CODING|NM_001278404.2|5|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His300Tyr/c.898C>T|510|LILRB2|protein_coding|CODING|NM_001278405.2|5|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His300Tyr/c.898C>T|455|LILRB2|protein_coding|CODING|NM_001278406.2|5|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His300Tyr/c.898C>T|598|LILRB2|protein_coding|CODING|NM_005874.4|6|1),non_coding_exon_variant(MODIFIER|||n.1030C>T||LILRB2||CODING|NR_103521.2|5|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4039,0.3689,0.5815,,,,,0.885305(N),1.000(P),"2.67,2.67,2.67,2.67,2.67(T,T,T,T,T)",0.0000(T),0.354,-0.056953,2.87,-0.97,0.449000,-0.071000,-0.294000,0.018000,0.000000,0.000000,2.3086
missense_variant,LILRB2,MISSENSE,NM_005874.4:p.Glu161Asp/c.483A>T,gaA/gaT,MODERATE,,0.844649,0.9147,rs373032,1(T),"0.0,0.0,0.0(B,B,B)",-1.05(N),-0.9609(T),,chr19,54783375,54783375,T,A,het,"missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu161Asp/c.483A>T|597|LILRB2|protein_coding|CODING|NM_001080978.3|5|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu161Asp/c.483A>T|597|LILRB2|protein_coding|CODING|NM_001278403.2|5|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu45Asp/c.135A>T|482|LILRB2|protein_coding|CODING|NM_001278404.2|4|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu161Asp/c.483A>T|510|LILRB2|protein_coding|CODING|NM_001278405.2|4|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu161Asp/c.483A>T|455|LILRB2|protein_coding|CODING|NM_001278406.2|4|1),missense_variant(MODERATE|MISSENSE|gaA/gaT|p.Glu161Asp/c.483A>T|598|LILRB2|protein_coding|CODING|NM_005874.4|5|1),non_coding_exon_variant(MODIFIER|||n.615A>T||LILRB2||CODING|NR_103521.2|4|1)","GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7025,0.8501,0.7634,0.83,0.94,0.78,,0.082977(N),1.000(P),"5.76,5.76,5.76,5.76,5.76(T,T,T,T,T)",0.0000(T),0.182,-1.152674,2.58,-5.16,-2.803000,-1.380000,-2.615000,0.005000,0.000000,0.000000,0.905
synonymous_variant,LILRB2,SILENT,NM_005874.4:p.Ile26Ile/c.78T>C,atT/atC,LOW,,0.974042,1,rs366337,,,,,,chr19,54783923,54783923,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile26Ile/c.78T>C|597|LILRB2|protein_coding|CODING|NM_001080978.3|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile26Ile/c.78T>C|597|LILRB2|protein_coding|CODING|NM_001278403.2|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile26Ile/c.78T>C|510|LILRB2|protein_coding|CODING|NM_001278405.2|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile26Ile/c.78T>C|455|LILRB2|protein_coding|CODING|NM_001278406.2|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile26Ile/c.78T>C|598|LILRB2|protein_coding|CODING|NM_005874.4|4|1),intron_variant(MODIFIER|||c.-163-108T>C|482|LILRB2|protein_coding|CODING|NM_001278404.2|2|1),non_coding_exon_variant(MODIFIER|||n.210T>C||LILRB2||CODING|NR_103521.2|3|1)","GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9857,0.9539,0.9225,0.96,0.99,0.94,,,,,,,,,,,,,,,,
synonymous_variant,LILRA4,SILENT,NM_012276.3:p.Asp313Asp/c.939C>T,gaC/gaT,LOW,COSM4132490(1),0.196885,0.2609,rs8105624,,,,,,chr19,54848684,54848684,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp313Asp/c.939C>T|499|LILRA4|protein_coding|CODING|NM_012276.3|5|1),"K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1677,0.2075,0.2008,0.18,0.16,0.19,,,,,,,,,,,,,,,,
missense_variant,LILRA4,MISSENSE,NM_012276.3:p.Ile155Val/c.463A>G,Att/Gtt,MODERATE,,0.105032,0.0139,rs10419832,1(T),0.017(B),1.155(L),-0.9686(T),,chr19,54849399,54849399,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile155Val/c.463A>G|499|LILRA4|protein_coding|CODING|NM_012276.3|4|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0102,0.0634,0.0696,0.14,0.25,0.08,,0.927818(N),1.000(P),5.81(T),0.0000(T),0.038,-0.580742,2.65,-0.958,0.460000,-0.311000,-0.066000,0.020000,0.002000,0.002000,3.3139
missense_variant,LILRA4,MISSENSE,NM_012276.3:p.Pro27Leu/c.80C>T,cCc/cTc,MODERATE,,0.197684,0.2679,rs2241384,0.1(T),0.063(B),2.485(M),-1.0347(T),,chr19,54849942,54849942,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro27Leu/c.80C>T|499|LILRA4|protein_coding|CODING|NM_012276.3|3|1),"GM12878:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1994,0.2133,0.169,0.16,0.16,0.17,,0.071815(N),1.000(P),2.58(T),0.0000(T),0.021,0.411693,2.5,-1.05,-3.327000,-0.466000,0.493000,0.001000,0.014000,0.033000,4.7733
synonymous_variant,TTYH1,SILENT,NM_001005367.2:p.Tyr217Tyr/c.651C>T,taC/taT,LOW,,0.140974,0.0982,rs45477994,,,,,,chr19,54937862,54937862,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr217Tyr/c.651C>T|460|TTYH1|protein_coding|CODING|NM_001005367.2|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr217Tyr/c.651C>T|451|TTYH1|protein_coding|CODING|NM_001201461.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr217Tyr/c.651C>T|450|TTYH1|protein_coding|CODING|NM_020659.3|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0992,0.1643,0.1948,0.19,0.15,0.21,,,,,,,,,,,,,,,,
synonymous_variant,TTYH1,SILENT,NM_001005367.2:p.Leu396Leu/c.1188A>G,ctA/ctG,LOW,COSM440279(1),0.410343,0.2381,rs3745420,0.02(D),,,-1.0399(T),,chr19,54946784,54946784,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu396Leu/c.1188A>G|460|TTYH1|protein_coding|CODING|NM_001005367.2|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu396Leu/c.1188A>G|451|TTYH1|protein_coding|CODING|NM_001201461.1|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu396Leu/c.1188A>G|450|TTYH1|protein_coding|CODING|NM_020659.3|11|1)","GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3732,0.2939,0.3052,0.43,0.64,0.32,,,0.000(P),2.4(T),0.0000(T),.,-0.186131,4.22,1.83,-0.215000,0.359000,0.304000,0.959000,1.000000,0.998000,1.9179
synonymous_variant,LENG8,SILENT,NM_052925.3:p.Pro286Pro/c.858C>G,ccC/ccG,LOW,COSM3757195(1),0.593051,0.3532,rs889147,,,,,,chr19,54966579,54966579,C,G,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro286Pro/c.858C>G|800|LENG8|protein_coding|CODING|NM_052925.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.638,0.5245,0.6481,0.66,0.71,0.63,,,,,,,,,,,,,,,,
missense_variant,LENG9,MISSENSE,NM_198988.1:p.Arg499Pro/c.1496G>C,cGc/cCc,MODERATE,COSM3757196(3),0.579073,0.3651,rs10423424,1(T),0.0(B),-1.79(N),-0.9616(T),,chr19,54973280,54973280,C,G,hom,"missense_variant(MODERATE|MISSENSE|cGc/cCc|p.Arg499Pro/c.1496G>C|501|LENG9|protein_coding|CODING|NM_198988.1|1|1),downstream_gene_variant(MODIFIER||54||800|LENG8|protein_coding|CODING|NM_052925.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.6401,0.464,0.5626,0.61,0.74,0.54,,0.828234(N),1.000(P),1.19(T),0.0000(T),0.049,-0.795374,4.98,3.9,-0.120000,0.581000,1.083000,0.023000,0.008000,0.003000,8.3798
missense_variant,LENG9,MISSENSE,NM_198988.1:p.His153Arg/c.458A>G,cAt/cGt,MODERATE,COSM440281(9),0.658147,0.3472,rs10406453,1(T),0.0(B),-2.02(N),-0.9801(T),,chr19,54974318,54974318,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His153Arg/c.458A>G|501|LENG9|protein_coding|CODING|NM_198988.1|1|1),downstream_gene_variant(MODIFIER||1092||800|LENG8|protein_coding|CODING|NM_052925.3||1),downstream_gene_variant(MODIFIER||1891||148|CDC42EP5|protein_coding|CODING|NM_145057.3||1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,HeLa-S3:Cmyc,HepG2:H3K4me2,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,CD4:CTCF,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM06990:H3K36me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF",,,,0.6973,0.5447,0.662,0.73,0.88,0.66,,0.001797(N),1.000(P),1.74(T),0.0000(T),0.067,-0.859453,3.59,3.59,-0.684000,0.653000,3.183000,0.008000,0.998000,1.000000,9.2501
start_lost,LENG9,MISSENSE,NM_198988.1:p.Met1?/c.2T>A,aTg/aAg,HIGH,COSM3749550(9),0.59365,0.3145,rs1981829,0(D),0.0(B),,-0.9591(T),LENG9:1.00(1);,chr19,54974774,54974774,A,T,hom,"start_lost(HIGH|MISSENSE|aTg/aAg|p.Met1?/c.2T>A|501|LENG9|protein_coding|CODING|NM_198988.1|1|1),downstream_gene_variant(MODIFIER||1548||800|LENG8|protein_coding|CODING|NM_052925.3||1),downstream_gene_variant(MODIFIER||1435||148|CDC42EP5|protein_coding|CODING|NM_145057.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Cmyc,IMR90:H3K36me3,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,GM06990:H3K36me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.6759,0.5187,0.6362,,,,,,0.989(P),1.49(T),0.0000(T),0.132,1.100071,3.03,-6.07,-1.215000,-1.794000,0.311000,0.002000,0.000000,0.000000,2.4369
missense_variant,LILRB1,MISSENSE,NM_001081637.2:p.Leu68Pro/c.203T>C,cTc/cCc,MODERATE,COSM4000940(2),0.468251,0.5982,rs1061679,0.86(T),"0.001,0.001,0.001,0.0,0.001(B,B,B,B,B)",-0.83(N),-0.9739(T),,chr19,55143083,55143083,T,C,het,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu68Pro/c.203T>C|652|LILRB1|protein_coding|CODING|NM_001081637.2|4|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu68Pro/c.203T>C|651|LILRB1|protein_coding|CODING|NM_001081638.3|4|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu68Pro/c.203T>C|651|LILRB1|protein_coding|CODING|NM_001081639.3|4|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu68Pro/c.203T>C|634|LILRB1|protein_coding|CODING|NM_001278398.2|4|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu68Pro/c.203T>C|456|LILRB1|protein_coding|CODING|NM_001278399.2|4|1),missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu68Pro/c.203T>C|650|LILRB1|protein_coding|CODING|NM_006669.6|5|1),non_coding_exon_variant(MODIFIER|||n.368T>C||LILRB1||CODING|NR_103518.2|4|1)","GM12878:H3K36me3,K562:H3K27me3,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2863,0.4899,0.3032,0.41,0.58,0.32,,0.004683(N),1.000(P),"5.84,5.84,5.84,5.84,5.84,5.84,5.84,5.84,5.84,5.84,5.84(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.087,-3.114359,1.58,-3.16,-3.790000,-1.373000,-3.288000,0.000000,0.000000,0.000000,0.3542
missense_variant,LILRB1,MISSENSE,NM_001081637.2:p.Ile142Thr/c.425T>C,aTc/aCc,MODERATE,COSM4000941(2),0.4373,0.5942,rs1061680,1(T),"0.0,0.0,0.0,0.0,0.001(B,B,B,B,B)",-2.215(N),-1.0521(T),,chr19,55143452,55143452,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile142Thr/c.425T>C|652|LILRB1|protein_coding|CODING|NM_001081637.2|5|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile142Thr/c.425T>C|651|LILRB1|protein_coding|CODING|NM_001081638.3|5|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile142Thr/c.425T>C|651|LILRB1|protein_coding|CODING|NM_001081639.3|5|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile142Thr/c.425T>C|634|LILRB1|protein_coding|CODING|NM_001278398.2|5|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile142Thr/c.425T>C|456|LILRB1|protein_coding|CODING|NM_001278399.2|5|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile142Thr/c.425T>C|650|LILRB1|protein_coding|CODING|NM_006669.6|6|1),non_coding_exon_variant(MODIFIER|||n.590T>C||LILRB1||CODING|NR_103518.2|5|1)","GM12878:H3K36me3,GM12878:PolII,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2311,0.4553,0.2465,0.37,0.56,0.28,,0.000039(N),1.000(P),"4.48,4.48,4.48,4.48,4.48,4.48,4.48,4.48,4.48,4.48,4.48(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.065,-2.258264,1.9,-0.625,-1.160000,-0.405000,0.437000,0.002000,0.001000,0.330000,5.3779
missense_variant,LILRB1,MISSENSE,NM_001081637.2:p.Ser155Ile/c.464G>T,aGt/aTt,MODERATE,,0.45008,0.5952,rs1061681,1(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-2.035(N),-0.9026(T),,chr19,55143491,55143491,G,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser155Ile/c.464G>T|652|LILRB1|protein_coding|CODING|NM_001081637.2|5|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser155Ile/c.464G>T|651|LILRB1|protein_coding|CODING|NM_001081638.3|5|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser155Ile/c.464G>T|651|LILRB1|protein_coding|CODING|NM_001081639.3|5|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser155Ile/c.464G>T|634|LILRB1|protein_coding|CODING|NM_001278398.2|5|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser155Ile/c.464G>T|456|LILRB1|protein_coding|CODING|NM_001278399.2|5|1),missense_variant(MODERATE|MISSENSE|aGt/aTt|p.Ser155Ile/c.464G>T|650|LILRB1|protein_coding|CODING|NM_006669.6|6|1),non_coding_exon_variant(MODIFIER|||n.629G>T||LILRB1||CODING|NR_103518.2|5|1)","GM12878:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2751,0.4755,0.2783,0.41,0.55,0.33,,0.128185(N),1.000(P),"3.81,3.81,3.81,3.81,3.81,3.81,3.81,3.81,3.81,3.81,3.81(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.112,-2.381260,1.57,0.317,-2.970000,-0.293000,-0.921000,0.009000,0.000000,0.000000,2.4378
synonymous_variant,LILRB1,SILENT,NM_001081637.2:p.Ser311Ser/c.933C>T,agC/agT,LOW,COSM3757198(3),0.59365,0.3611,rs272423,,,,,,chr19,55144186,55144186,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser311Ser/c.933C>T|652|LILRB1|protein_coding|CODING|NM_001081637.2|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser311Ser/c.933C>T|651|LILRB1|protein_coding|CODING|NM_001081638.3|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser311Ser/c.933C>T|651|LILRB1|protein_coding|CODING|NM_001081639.3|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser311Ser/c.933C>T|634|LILRB1|protein_coding|CODING|NM_001278398.2|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser311Ser/c.933C>T|456|LILRB1|protein_coding|CODING|NM_001278399.2|6|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser311Ser/c.933C>T|650|LILRB1|protein_coding|CODING|NM_006669.6|7|1),non_coding_exon_variant(MODIFIER|||n.1098C>T||LILRB1||CODING|NR_103518.2|6|1)","GM12878:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6871,0.464,0.7207,,,,,,,,,,,,,,,,,,,
synonymous_variant,LILRB1,SILENT,NM_001081637.2:p.Leu624Leu/c.1872C>T,ctC/ctT,LOW,COSM3757199(2),0.0950479,0.0933,rs1061684,,,,,,chr19,55148242,55148242,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu624Leu/c.1872C>T|652|LILRB1|protein_coding|CODING|NM_001081637.2|15|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu623Leu/c.1869C>T|651|LILRB1|protein_coding|CODING|NM_001081638.3|15|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu623Leu/c.1869C>T|651|LILRB1|protein_coding|CODING|NM_001081639.3|15|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu606Leu/c.1818C>T|634|LILRB1|protein_coding|CODING|NM_001278398.2|14|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu622Leu/c.1866C>T|650|LILRB1|protein_coding|CODING|NM_006669.6|16|1),non_coding_exon_variant(MODIFIER|||n.1955C>T||LILRB1||CODING|NR_103518.2|14|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0726,0.1772,0.1501,0.12,0.03,0.17,,,,,,,,,,,,,,,,
missense_variant,LILRB1,MISSENSE,NM_001081637.2:p.Glu627Lys/c.1879G>A,Gag/Aag,MODERATE,COSM3757200(2),,,rs16985478,0.5(T),"0.011,0.019,0.002,0.008,0.004(B,B,B,B,B)",0.65(N),-1.0696(T),,chr19,55148249,55148249,G,A,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu627Lys/c.1879G>A|652|LILRB1|protein_coding|CODING|NM_001081637.2|15|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu626Lys/c.1876G>A|651|LILRB1|protein_coding|CODING|NM_001081638.3|15|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu626Lys/c.1876G>A|651|LILRB1|protein_coding|CODING|NM_001081639.3|15|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu609Lys/c.1825G>A|634|LILRB1|protein_coding|CODING|NM_001278398.2|14|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu625Lys/c.1873G>A|650|LILRB1|protein_coding|CODING|NM_006669.6|16|1),non_coding_exon_variant(MODIFIER|||n.1962G>A||LILRB1||CODING|NR_103518.2|14|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(P),"7.16,7.15,7.16,7.13,7.12,7.16,7.16,7.08,7.15,7.12(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.158,0.199261,2.1,-3.59,0.194000,-0.708000,-0.579000,0.016000,0.000000,0.000000,3.3644
missense_variant,LILRB4,MISSENSE,NM_001278426.3:p.Arg18Ser/c.54G>T,agG/agT,MODERATE,,0.195487,0.124,rs11540761,0.42(T),"0.254,0.885,0.341,0.358,0.998(B,P,B,B,D)",2.865(M),-0.8961(T),,chr19,55175009,55175009,G,T,het,"missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg18Ser/c.54G>T|448|LILRB4|protein_coding|CODING|NM_001278426.3|2|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg18Ser/c.54G>T|447|LILRB4|protein_coding|CODING|NM_001278427.3|2|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg18Ser/c.54G>T|448|LILRB4|protein_coding|CODING|NM_001278428.3|2|1),missense_variant(MODERATE|MISSENSE|agG/agT|p.Arg18Ser/c.54G>T|254|LILRB4|protein_coding|CODING|NM_001278430.3|2|1),intron_variant(MODIFIER|||c.158-203G>T|478|LILRB4|protein_coding|CODING|NM_001278429.3|1|1)",HepG2:H3K27me3,,,,0.2577,0.2032,0.1799,0.20,0.22,0.19,,,1.000(P),"7.2,7.2,7.2,7.17,7.22,7.14(T,T,T,T,T,T)",0.0000(T),0.486,1.100156,2.4,1.28,0.407000,0.312000,0.498000,0.145000,0.002000,0.001000,6.8653
synonymous_variant,LILRB4,SILENT,NM_001278429.3:p.Phe182Phe/c.546C>T,ttC/ttT,LOW,COSM3757201(4),0.398762,0.5804,rs3745871,,,,,,chr19,55175740,55175740,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe153Phe/c.459C>T|448|LILRB4|protein_coding|CODING|NM_001278426.3|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe153Phe/c.459C>T|447|LILRB4|protein_coding|CODING|NM_001278427.3|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe153Phe/c.459C>T|448|LILRB4|protein_coding|CODING|NM_001278428.3|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe182Phe/c.546C>T|478|LILRB4|protein_coding|CODING|NM_001278429.3|3|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe153Phe/c.459C>T|254|LILRB4|protein_coding|CODING|NM_001278430.3|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3425,0.4179,0.3817,0.35,0.33,0.37,,,,,,,,,,,,,,,,
missense_variant,LILRB4,MISSENSE,NM_001278429.3:p.Asp252Gly/c.755A>G,gAt/gGt,MODERATE,COSM4132514(1),0.61901,0.7589,rs731170,0.9(T),"0.0,0.001,0.001,0.001,0.001(B,B,B,B,B)",0(N),-0.9741(T),,chr19,55176262,55176262,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp223Gly/c.668A>G|448|LILRB4|protein_coding|CODING|NM_001278426.3|5|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp223Gly/c.668A>G|447|LILRB4|protein_coding|CODING|NM_001278427.3|5|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp223Gly/c.668A>G|448|LILRB4|protein_coding|CODING|NM_001278428.3|5|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp252Gly/c.755A>G|478|LILRB4|protein_coding|CODING|NM_001278429.3|4|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp223Gly/c.668A>G|254|LILRB4|protein_coding|CODING|NM_001278430.3|5|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6963,0.6282,0.6918,0.61,0.44,0.69,,,1.000(P),"7.23,7.23,7.23,7.22,7.25,7.21(T,T,T,T,T,T)",0.0000(T),0.025,-2.267370,2.06,-4.13,-1.403000,-2.038000,-2.232000,0.000000,0.000000,0.000000,1.5517
missense_variant,LILRB4,MISSENSE,NM_001278429.3:p.Gln444Arg/c.1331A>G,cAg/cGg,MODERATE,COSM3757202(1),0.376997,0.3155,rs1048801,0.08(T),"0.584,0.763,0.801,0.543(P,P,P,P)",2.845(M),-0.9219(T),,chr19,55179364,55179364,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln414Arg/c.1241A>G|448|LILRB4|protein_coding|CODING|NM_001278426.3|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln413Arg/c.1238A>G|447|LILRB4|protein_coding|CODING|NM_001278427.3|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln414Arg/c.1241A>G|448|LILRB4|protein_coding|CODING|NM_001278428.3|12|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln444Arg/c.1331A>G|478|LILRB4|protein_coding|CODING|NM_001278429.3|11|1)","HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.3487,0.3818,0.327,0.40,0.45,0.37,,,1.000(P),"5.36,5.36,5.37,6.51,5.37(T,T,T,T,T)",0.0000(T),0.54,1.410687,2.07,0.983,0.334000,0.089000,1.012000,0.331000,0.032000,0.111000,3.8581
missense_variant,KIR3DL3,MISSENSE,NM_153443.3:p.His321Asn/c.961C>A,Cac/Aac,MODERATE,COSM440288(4),0.235024,0.1339,rs602444,0.02(D),0.074(B),2.355(M),-1.0092(T),,chr19,55246731,55246731,C,A,hom,missense_variant(MODERATE|MISSENSE|Cac/Aac|p.His321Asn/c.961C>A|410|KIR3DL3|protein_coding|CODING|NM_153443.3|6|1),"GM06990:H3K27me3,HepG2:H3K27me3",,,,0.3783,0.2118,0.4801,0.36,0.10,0.49,,,1.000(P),7.22(T),0.0000(T),0.032,-0.422252,0.929,-0.622,0.184000,-0.127000,0.011000,0.026000,0.002000,0.000000,3.6449
missense_variant,KIR2DL3,MISSENSE,NM_015868.2:p.Pro229Leu/c.686C>T,cCt/cTt,MODERATE,COSM3757203(2),0.127596,0.123,rs35861855,0.01(D),"0.05,0.019,0.071,0.019,0.019(B,B,B,B,B)",2.685(M),-0.9753(T),,chr19,55258808,55258808,C,T,hom,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro229Leu/c.686C>T|341|KIR2DL3|protein_coding|CODING|NM_015868.2|5|1),HepG2:H3K27me3,,,,0.1268,0.1196,0.2843,,,,,,1.000(P),6.92(T),0.0000(T),0.082,0.117677,0.736,-0.473,0.184000,-0.133000,0.003000,0.011000,0.000000,0.000000,3.1738
missense_variant,KIR2DL1,MISSENSE,NM_014218.2:p.Val5Phe/c.13G>T,Gtc/Ttc,MODERATE,COSM440292(4),0.156749,0.127,rs200246644,0.03(D),"0.003,0.602(B,P)",1.77(L),-0.9294(T),,chr19,55281315,55281315,G,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Ttc|p.Val5Phe/c.13G>T|348|KIR2DL1|protein_coding|CODING|NM_014218.2|1|1),non_coding_exon_variant(MODIFIER|||n.340C>A||LOC101928804||NON_CODING|NR_110737.1|3|1),non_coding_exon_variant(MODIFIER|||n.269C>A||LOC101928804||NON_CODING|NR_110738.1|3|1)",HepG2:H3K27me3,,,,0.1462,0.134,0.3062,0.24,0.11,0.31,,,0.000(P),"6.97,7.03(T,T)",0.0000(T),0.102,1.015848,0.514,-1.03,-0.779000,-1.276000,-1.332000,0.012000,0.011000,0.000000,.
missense_variant,KIR3DL2,MISSENSE,NM_006737.3:p.Thr397Met/c.1190C>T,aCg/aTg,MODERATE,,0.261981,0.2778,rs3745902,0.03(D),"0.88,0.8,0.03(P,P,B)",2.905(M),-0.8971(T),,chr19,55378008,55378008,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr380Met/c.1139C>T|438|KIR3DL2|protein_coding|CODING|NM_001242867.1|8|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr397Met/c.1190C>T|455|KIR3DL2|protein_coding|CODING|NM_006737.3|9|1)","GM12878:H3K36me3,HepG2:H3K27me3",,,,0.3906,0.3012,0.3002,0.24,0.14,0.30,,,1.000(P),"6.9,6.83,6.58(T,T,T)",0.0000(T),0.096,1.171560,1.59,0.458,-0.554000,0.049000,-0.389000,0.019000,0.007000,0.034000,5.8218
synonymous_variant,NLRP7,SILENT,NM_001127255.1:p.Ala925Ala/c.2775A>G,gcA/gcG,LOW,,0.590056,0.6994,rs269950,1(T),,,-0.9532(T),,chr19,55441902,55441902,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala925Ala/c.2775A>G|1037|NLRP7|protein_coding|CODING|NM_001127255.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala897Ala/c.2691A>G|1009|NLRP7|protein_coding|CODING|NM_139176.3|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala925Ala/c.2775A>G|980|NLRP7|protein_coding|CODING|NM_206828.3|9|1)","GM12878:H3K36me3,HepG2:H3K36me3",,,,0.5951,0.6124,0.5278,0.54,0.52,0.56,,,1.000(P),,0.0000(T),.,-0.241925,2.44,-4.89,-1.824000,-1.972000,-2.239000,0.003000,0.000000,0.010000,1.2099
synonymous_variant,NLRP7,SILENT,NM_001127255.1:p.Tyr894Tyr/c.2682T>C,taT/taC,LOW,,0.590455,0.6994,rs269951,,,,,,chr19,55441995,55441995,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr894Tyr/c.2682T>C|1037|NLRP7|protein_coding|CODING|NM_001127255.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr866Tyr/c.2598T>C|1009|NLRP7|protein_coding|CODING|NM_139176.3|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr894Tyr/c.2682T>C|980|NLRP7|protein_coding|CODING|NM_206828.3|9|1)","GM12878:H3K36me3,HepG2:H3K36me3",,,,0.5961,0.6124,0.5278,0.54,0.52,0.56,,,,,,,,,,,,,,,,
synonymous_variant,NLRP7,SILENT,NM_001127255.1:p.Lys379Lys/c.1137G>A,aaG/aaA,LOW,,0.180711,0.1786,,,,,,,chr19,55451050,55451050,C,T,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys379Lys/c.1137G>A|1037|NLRP7|protein_coding|CODING|NM_001127255.1|4|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys379Lys/c.1137G>A|1009|NLRP7|protein_coding|CODING|NM_139176.3|4|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys379Lys/c.1137G>A|980|NLRP7|protein_coding|CODING|NM_206828.3|4|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,RCV000083968.1,,0.2076,0.2507,0.2217,0.17,0.12,0.20,,,,,,,,,,,,,,,,
missense_variant,NLRP7,MISSENSE,NM_001127255.1:p.Val319Ile/c.955G>A,Gta/Ata,MODERATE,,0.288938,0.1835,rs775882,0.6(T),"0.009,0.009,0.006,0.003(B,B,B,B)",0.31(N),-1.0218(T),,chr19,55451232,55451232,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val319Ile/c.955G>A|1037|NLRP7|protein_coding|CODING|NM_001127255.1|4|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val319Ile/c.955G>A|1009|NLRP7|protein_coding|CODING|NM_139176.3|4|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val319Ile/c.955G>A|980|NLRP7|protein_coding|CODING|NM_206828.3|4|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2178,0.2954,0.2276,0.30,0.46,0.21,,,1.000(P),"-1.28,-1.28,-1.28,-1.28(T,T,T,T)",0.0000(T),0.037,-3.214710,1.56,-3.12,-1.957000,-3.374000,-1.175000,0.001000,0.000000,0.000000,8.7467
synonymous_variant,NLRP7,SILENT,NM_001127255.1:p.Gln130Gln/c.390G>A,caG/caA,LOW,COSM3757219(1),0.355431,0.1905,rs775883,,,,,,chr19,55451797,55451797,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln130Gln/c.390G>A|1037|NLRP7|protein_coding|CODING|NM_001127255.1|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln130Gln/c.390G>A|1009|NLRP7|protein_coding|CODING|NM_139176.3|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln130Gln/c.390G>A|980|NLRP7|protein_coding|CODING|NM_206828.3|4|1)","GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2474,0.3746,0.3956,0.39,0.50,0.33,,,,,,,,,,,,,,,,
synonymous_variant,NLRP2,SILENT,NM_001174081.1:p.Leu605Leu/c.1815C>G,ctC/ctG,LOW,COSM3757224(1),0.271965,0.2302,rs11672113,,,,,,chr19,55494881,55494881,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu605Leu/c.1815C>G|1062|NLRP2|protein_coding|CODING|NM_001174081.1|6|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu583Leu/c.1749C>G|1040|NLRP2|protein_coding|CODING|NM_001174082.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu582Leu/c.1746C>G|1039|NLRP2|protein_coding|CODING|NM_001174083.1|7|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu605Leu/c.1815C>G|1062|NLRP2|protein_coding|CODING|NM_017852.3|6|1)","GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2577,0.4135,0.3827,0.31,0.19,0.37,,,,,,,,,,,,,,,,
synonymous_variant,NLRP2,SILENT,NM_001174081.1:p.Ile1020Ile/c.3060C>A,atC/atA,LOW,,0.550519,0.6815,rs12768,,,,,,chr19,55512137,55512137,C,A,het,"synonymous_variant(LOW|SILENT|atC/atA|p.Ile1020Ile/c.3060C>A|1062|NLRP2|protein_coding|CODING|NM_001174081.1|13|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile998Ile/c.2994C>A|1040|NLRP2|protein_coding|CODING|NM_001174082.1|12|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile997Ile/c.2991C>A|1039|NLRP2|protein_coding|CODING|NM_001174083.1|14|1),synonymous_variant(LOW|SILENT|atC/atA|p.Ile1020Ile/c.3060C>A|1062|NLRP2|protein_coding|CODING|NM_017852.3|13|1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.5266,0.6686,0.495,0.51,0.46,0.53,,,,,,,,,,,,,,,,
missense_variant,NLRP2,MISSENSE,NM_001174081.1:p.Ala1052Glu/c.3155C>A,gCa/gAa,MODERATE,COSM4000957(1),0.329872,0.1786,rs1043673,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-1.0110(T),,chr19,55512232,55512232,C,A,hom,"missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala1052Glu/c.3155C>A|1062|NLRP2|protein_coding|CODING|NM_001174081.1|13|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala1030Glu/c.3089C>A|1040|NLRP2|protein_coding|CODING|NM_001174082.1|12|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala1029Glu/c.3086C>A|1039|NLRP2|protein_coding|CODING|NM_001174083.1|14|1),missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala1052Glu/c.3155C>A|1062|NLRP2|protein_coding|CODING|NM_017852.3|13|1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.2863,0.438,0.4155,0.39,0.36,0.40,,,1.000(P),"-0.75,-0.7,-0.69,-0.75,-0.69,-0.79,-0.7,-0.75(T,T,T,T,T,T,T,T)",0.0000(T),0.11,-1.979138,3.02,-0.369,-1.219000,-0.515000,-0.726000,0.000000,0.000000,0.000000,0.3027
missense_variant,GP6,MISSENSE,NM_001083899.2:p.Phe606Leu/c.1816T>C,Ttt/Ctt,MODERATE,,0.726637,0.8125,rs1671150,1(T),0.0(B),,-0.9089(T),,chr19,55525497,55525497,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe606Leu/c.1816T>C|620|GP6|protein_coding|CODING|NM_001083899.2|8|1),3_prime_UTR_variant(MODIFIER||792|c.*792T>C|321|GP6|protein_coding|CODING|NM_001256017.2|7|1),3_prime_UTR_variant(MODIFIER||792|c.*792T>C|339|GP6|protein_coding|CODING|NM_016363.5|8|1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.7086,0.8242,0.8459,0.81,0.68,0.87,,,1.000(P),1.07(T),0.0000(T),0.01,-2.609384,0.235,-0.47,-1.939000,-1.921000,-1.849000,0.000000,0.000000,0.001000,.
missense_variant,GP6,MISSENSE,NM_001083899.2:p.Arg573Gly/c.1717A>G,Agg/Ggg,MODERATE,,0.716653,0.8075,rs1654412,1(T),0.291(B),,-0.9303(T),,chr19,55525596,55525596,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg573Gly/c.1717A>G|620|GP6|protein_coding|CODING|NM_001083899.2|8|1),3_prime_UTR_variant(MODIFIER||693|c.*693A>G|321|GP6|protein_coding|CODING|NM_001256017.2|7|1),3_prime_UTR_variant(MODIFIER||693|c.*693A>G|339|GP6|protein_coding|CODING|NM_016363.5|8|1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.7076,0.8228,0.8459,0.73,0.53,0.83,,,1.000(P),1.17(T),0.0000(T),0.033,0.441597,0.235,-0.47,-0.940000,-0.912000,-0.829000,0.009000,0.009000,0.009000,.
synonymous_variant,GP6,SILENT,NM_001083899.2:p.Pro473Pro/c.1419C>T,ccC/ccT,LOW,COSM3757226(1),0.717652,0.8125,rs1671151,,,,,,chr19,55525894,55525894,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro473Pro/c.1419C>T|620|GP6|protein_coding|CODING|NM_001083899.2|8|1),3_prime_UTR_variant(MODIFIER||395|c.*395C>T|321|GP6|protein_coding|CODING|NM_001256017.2|7|1),3_prime_UTR_variant(MODIFIER||395|c.*395C>T|339|GP6|protein_coding|CODING|NM_016363.5|8|1)","K562:H3K36me3,GM06990:H3K4me3,HepG2:H3K27me3",,,,0.7086,0.8228,0.8459,0.73,0.53,0.83,,,,,,,,,,,,,,,,
missense_variant,GP6,MISSENSE,NM_001083899.2:p.Lys323Thr/c.968A>C,aAa/aCa,MODERATE,COSM1396466(5),0.823083,0.9673,rs1671152,1(T),0.0(B),,-0.9164(T),,chr19,55526345,55526345,T,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aCa|p.Lys323Thr/c.968A>C|620|GP6|protein_coding|CODING|NM_001083899.2|8|1),missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn304His/c.910A>C|321|GP6|protein_coding|CODING|NM_001256017.2|7|1),missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn322His/c.964A>C|339|GP6|protein_coding|CODING|NM_016363.5|8|1)","K562:PolII,K562:H3K36me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:Cmyc,HepG2:H3K27me3",Platelet_aggregation,,,0.7822,0.9164,0.8588,0.80,0.69,0.85,,,1.000(P),6.62(T),0.0000(T),0.039,-1.370532,2.65,2.65,-0.217000,0.680000,0.067000,0.001000,0.001000,0.000000,6.9339
missense_variant,GP6,MISSENSE,NM_016363.5:p.Leu317Gln/c.950T>A,cTg/cAg,MODERATE,COSM1396467(5),0.72484,0.8135,rs1654413,0.4(T),"0.0,0.0(B,B)",,-1.0251(T),,chr19,55526359,55526359,A,T,hom,"missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu299Gln/c.896T>A|321|GP6|protein_coding|CODING|NM_001256017.2|7|1),missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu317Gln/c.950T>A|339|GP6|protein_coding|CODING|NM_016363.5|8|1),synonymous_variant(LOW|SILENT|gcT/gcA|p.Ala318Ala/c.954T>A|620|GP6|protein_coding|CODING|NM_001083899.2|8|1)","K562:PolII,K562:H3K36me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:Cmyc,HepG2:H3K27me3",,,,0.7086,0.8256,0.8429,0.74,0.56,0.83,,,1.000(P),"7.09,7.04(T,T)",0.0000(T),.,-0.544785,2.65,-0.947,-3.579000,-1.326000,-0.867000,0.001000,0.001000,0.000000,0.9097
missense_variant,GP6,MISSENSE,NM_001083899.2:p.Pro314Ala/c.940C>G,Ccc/Gcc,MODERATE,COSM1396468(4),0.384585,0.2411,rs2304166,0.32(T),0.996(D),,-1.1804(T),,chr19,55526373,55526373,G,C,hom,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro314Ala/c.940C>G|620|GP6|protein_coding|CODING|NM_001083899.2|8|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu294Leu/c.882C>G|321|GP6|protein_coding|CODING|NM_001256017.2|7|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu312Leu/c.936C>G|339|GP6|protein_coding|CODING|NM_016363.5|8|1)","K562:PolII,K562:H3K36me3,GM06990:H3K4me3,HUVEC:DNase1,HepG2:H3K27me3",,,,0.4202,0.5663,0.6093,0.49,0.24,0.60,,,0.000(P),6.55(T),0.0000(T),0.174,2.391030,2.65,2.65,0.561000,1.778000,0.423000,0.034000,0.944000,0.742000,8.9559
missense_variant,GP6,MISSENSE,NM_001083899.2:p.Ala249Thr/c.745G>A,Gcc/Acc,MODERATE,COSM3757227(1),0.713458,0.8105,rs2304167,1(T),"0.009,0.05,0.0(B,B,B)",0.895(L),-0.8915(T),,chr19,55527081,55527081,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala249Thr/c.745G>A|620|GP6|protein_coding|CODING|NM_001083899.2|7|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala231Thr/c.691G>A|321|GP6|protein_coding|CODING|NM_001256017.2|6|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala249Thr/c.745G>A|339|GP6|protein_coding|CODING|NM_016363.5|7|1)","K562:H3K36me3,HepG2:H3K27me3",,,,0.7076,0.8228,0.8459,0.73,0.52,0.83,,,1.000(P),"7.04,6.78,7.02(T,T,T)",0.0000(T),0.03,0.273365,3.15,-6.29,-1.268000,-1.765000,-2.923000,0.065000,0.000000,0.000000,4.4842
missense_variant,GP6,MISSENSE,NM_001083899.2:p.Glu237Lys/c.709G>A,Gaa/Aaa,MODERATE,,0.74361,0.8105,rs1654416,0.27(T),"0.0,0.002,0.0(B,B,B)",-1.15(N),-1.0516(T),,chr19,55530035,55530035,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu237Lys/c.709G>A|620|GP6|protein_coding|CODING|NM_001083899.2|6|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu219Lys/c.655G>A|321|GP6|protein_coding|CODING|NM_001256017.2|5|1),missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu237Lys/c.709G>A|339|GP6|protein_coding|CODING|NM_016363.5|6|1)","K562:H3K36me3,K562:DNase1",,,,0.7106,0.8329,0.8479,0.77,0.62,0.83,,,1.000(P),"7.12,6.93,7.13(T,T,T)",0.0000(T),0.055,-0.745670,2.9,-1.81,-0.254000,-1.028000,-0.149000,0.001000,0.000000,0.000000,5.4229
missense_variant,GP6,MISSENSE,NM_001083899.2:p.Pro219Ser/c.655C>T,Ccg/Tcg,MODERATE,COSM3757228(1),0.842652,0.9663,rs1613662,0.86(T),"0.002,0.0(B,B)",-0.075(N),-0.9838(T),,chr19,55536595,55536595,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro219Ser/c.655C>T|620|GP6|protein_coding|CODING|NM_001083899.2|5|1),missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro219Ser/c.655C>T|339|GP6|protein_coding|CODING|NM_016363.5|5|1),intron_variant(MODIFIER|||c.610+2351C>T|321|GP6|protein_coding|CODING|NM_001256017.2|4|1)",K562:H3K36me3,,,,0.7843,0.9092,0.8549,0.83,0.78,0.85,,,1.000(P),"7.08,7.01(T,T)",0.0000(T),0.028,-1.143392,2.66,-0.223,-0.383000,-0.397000,-0.393000,0.004000,0.000000,0.000000,6.8082
synonymous_variant,GP6,SILENT,NM_001083899.2:p.Ser192Ser/c.576A>G,tcA/tcG,LOW,COSM1396470(2),0.907149,0.9663,rs1654425,,,,,,chr19,55538980,55538980,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser192Ser/c.576A>G|620|GP6|protein_coding|CODING|NM_001083899.2|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser192Ser/c.576A>G|321|GP6|protein_coding|CODING|NM_001256017.2|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser192Ser/c.576A>G|339|GP6|protein_coding|CODING|NM_016363.5|4|1)","K562:H3K4me3,K562:PolII,K562:H3K27ac,H1ESC:DNase1,K562:Gabp,K562:H3K9ac,K562:ELF1,K562:Egr1,K562:SP1,K562:H3K4me2,K562:DNase1,GM12878:Sin3Ak20",,,,0.7843,0.9337,0.8559,0.88,0.96,0.84,,,,,,,,,,,,,,,,
synonymous_variant,GP6,SILENT,NM_001083899.2:p.Thr169Thr/c.507G>A,acG/acA,LOW,COSM3773911(2),0.0858626,0.0308,rs5030705,,,,,,chr19,55539049,55539049,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr169Thr/c.507G>A|620|GP6|protein_coding|CODING|NM_001083899.2|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr169Thr/c.507G>A|321|GP6|protein_coding|CODING|NM_001256017.2|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr169Thr/c.507G>A|339|GP6|protein_coding|CODING|NM_016363.5|4|1)","K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:H3K9ac,K562:H3K4me2,K562:DNase1",,,,0.047,0.1354,0.2376,0.15,0.04,0.20,,,,,,,,,,,,,,,,
synonymous_variant,GP6,SILENT,NM_001083899.2:p.Phe165Phe/c.495T>C,ttT/ttC,LOW,,0.732428,0.8095,rs892089,,,,,,chr19,55539061,55539061,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe165Phe/c.495T>C|620|GP6|protein_coding|CODING|NM_001083899.2|4|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe165Phe/c.495T>C|321|GP6|protein_coding|CODING|NM_001256017.2|4|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe165Phe/c.495T>C|339|GP6|protein_coding|CODING|NM_016363.5|4|1)","K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:H3K9ac,K562:H3K4me2,K562:DNase1",,,,0.7096,0.817,0.839,0.75,0.60,0.82,,,,,,,,,,,,,,,,
synonymous_variant,GP6,SILENT,NM_001083899.2:p.Arg162Arg/c.484A>C,Agg/Cgg,LOW,,0.842652,0.9663,rs892090,,,,,,chr19,55539072,55539072,T,G,hom,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg162Arg/c.484A>C|620|GP6|protein_coding|CODING|NM_001083899.2|4|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg162Arg/c.484A>C|321|GP6|protein_coding|CODING|NM_001256017.2|4|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg162Arg/c.484A>C|339|GP6|protein_coding|CODING|NM_016363.5|4|1)","K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:H3K9ac,K562:H3K4me2,K562:DNase1",,,,0.7843,0.9092,0.8549,0.82,0.77,0.84,,,,,,,,,,,,,,,,
synonymous_variant,RDH13,SILENT,NM_001145971.1:p.Leu205Leu/c.615C>T,ctC/ctT,LOW,,0.0856629,0.0268,rs1059211,,,,,,chr19,55559740,55559740,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu205Leu/c.615C>T|331|RDH13|protein_coding|CODING|NM_001145971.1|5|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu134Leu/c.402C>T|260|RDH13|protein_coding|CODING|NM_138412.3|6|1),non_coding_exon_variant(MODIFIER|||n.800C>T||RDH13||CODING|NR_027381.1|5|1),non_coding_exon_variant(MODIFIER|||n.800C>T||RDH13||CODING|NR_027382.1|5|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0532,0.1297,0.2416,0.15,0.04,0.21,,,,,,,,,,,,,,,,
synonymous_variant,RDH13,SILENT,NM_001145971.1:p.Gly45Gly/c.135T>C,ggT/ggC,LOW,COSM440330(1),0.859425,0.9722,rs1654447,,,,,,chr19,55570574,55570574,A,G,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly45Gly/c.135T>C|331|RDH13|protein_coding|CODING|NM_001145971.1|2|1),5_prime_UTR_variant(MODIFIER||2427|c.-79T>C|260|RDH13|protein_coding|CODING|NM_138412.3|3|1),non_coding_exon_variant(MODIFIER|||n.320T>C||RDH13||CODING|NR_027381.1|2|1),non_coding_exon_variant(MODIFIER|||n.320T>C||RDH13||CODING|NR_027382.1|2|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8108,0.8934,0.8509,0.83,0.79,0.84,,,,,,,,,,,,,,,,
missense_variant,EPS8L1,MISSENSE,NM_133180.2:p.Ala4Thr/c.10G>A,Gcc/Acc,MODERATE,COSM440331(4),0.0976438,0.1002,rs12609976,1(T),0.0(B),0(N),-0.9539(T),,chr19,55587822,55587822,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala4Thr/c.10G>A|723|EPS8L1|protein_coding|CODING|NM_133180.2|2|1),"IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.0716,0.1455,0.162,0.13,0.05,0.17,,0.545204(N),0.193(P),3.66(T),0.0000(T),0.06,0.040468,2.54,2.54,-1.729000,0.409000,-0.017000,0.481000,0.570000,0.000000,4.8871
missense_variant,EPS8L1,MISSENSE,NM_133180.2:p.Gln457Glu/c.1369C>G,Cag/Gag,MODERATE,COSM3757232(1),0.131589,0.1012,rs1628576,0.84(T),"0.899,0.217,0.231,0.029,0.857(P,B,B,B,P)",2.075(M),-0.9632(T),,chr19,55594996,55594996,C,G,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln330Glu/c.988C>G|596|EPS8L1|protein_coding|CODING|NM_017729.3|9|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln457Glu/c.1369C>G|723|EPS8L1|protein_coding|CODING|NM_133180.2|14|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.0971,0.1801,0.2237,0.15,0.08,0.19,,0.000000(N),0.017(P),"3.65,3.4,3.39(T,T,T)",0.0000(T),0.19,1.376645,2.83,2.83,0.561000,1.615000,1.444000,0.993000,1.000000,0.794000,9.2533
missense_variant,EPS8L1,MISSENSE,NM_133180.2:p.Lys669Arg/c.2006A>G,aAg/aGg,MODERATE,COSM440334(6),0.467652,0.4514,rs1054940,0.22(T),"0.998,0.927,0.73(D,D,P)",1.71(L),-0.8828(T),,chr19,55598724,55598724,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys542Arg/c.1625A>G|596|EPS8L1|protein_coding|CODING|NM_017729.3|14|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys669Arg/c.2006A>G|723|EPS8L1|protein_coding|CODING|NM_133180.2|19|1)","H1ESC:PolII,H1ESC:H3K36me3,HUVEC:H3K4me3,GM12878:H3K27me3,HUVEC:PolII,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:DNase1,HSMM:DNase1,NH-A:DNase1,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K4me3,GM06990:H3K36me3,NHEK:DNase1,IMR90:H3K4me3",,,,0.6207,0.4597,0.506,0.45,0.36,0.49,,0.000057(D),0.000(P),"1.81,1.81,1.81(T,T,T)",0.0000(T),0.171,4.868341,4.02,4.02,0.260000,1.768000,5.360000,0.953000,1.000000,1.000000,11.4935
synonymous_variant,TNNT1,SILENT,NM_003283.5:p.Arg265Arg/c.795T>G,cgT/cgG,LOW,,0.980431,0.9306,rs890868,,,,,,chr19,55644325,55644325,A,C,hom,"synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg249Arg/c.747T>G|262|TNNT1|protein_coding|CODING|NM_001126132.2|14|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg238Arg/c.714T>G|251|TNNT1|protein_coding|CODING|NM_001126133.2|13|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg238Arg/c.714T>G|251|TNNT1|protein_coding|CODING|NM_001291774.1|14|1),synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg265Arg/c.795T>G|278|TNNT1|protein_coding|CODING|NM_003283.5|14|1)","H1ESC:H3K36me3,K562:H3K36me3,HUVEC:CTCF,HMEC:H3K27me3,NHEK:H3K36me3,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HepG2:Rad21,GM06990:CTCF",,RCV000024552.1,,1,0.9669,0.995,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,DNAAF3,MISSENSE,NM_001256714.1:p.Asp432Asn/c.1294G>A,Gat/Aat,MODERATE,,1,1,rs890872,1(T),"0.001,0.001,0.001,0.0(B,B,B,B)",0.9(L),-0.9867(T),,chr19,55671337,55671337,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp432Asn/c.1294G>A|608|DNAAF3|protein_coding|CODING|NM_001256714.1|10|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp365Asn/c.1093G>A|541|DNAAF3|protein_coding|CODING|NM_001256715.1|10|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp311Asn/c.931G>A|487|DNAAF3|protein_coding|CODING|NM_001256716.1|10|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp412Asn/c.1234G>A|588|DNAAF3|protein_coding|CODING|NM_178837.4|10|1)","K562:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,0.093927(N),1.000(P),"2.3,2.3(T,T)",0.0000(T),0.12,-1.490298,4.59,2.26,-1.254000,0.114000,0.183000,0.008000,0.002000,0.000000,9.09
missense_variant,PTPRH,MISSENSE,NM_002842.4:p.Lys823Glu/c.2467A>G,Aag/Gag,MODERATE,,1,1,rs890870,1(T),"0.0,0.0(B,B)",-3.4(N),-1.0024(T),,chr19,55699454,55699454,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys645Glu/c.1933A>G|937|PTPRH|protein_coding|CODING|NM_001161440.2|11|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys823Glu/c.2467A>G|1115|PTPRH|protein_coding|CODING|NM_002842.4|13|1)","IMR90:H3K27me3,HepG2:H3K36me3",,,,1,1,1,,,,,,1.000(P),"3.32,3.32(T,T)",0.0000(T),0.166,-1.225346,4.15,4.15,-0.215000,1.054000,2.035000,0.042000,0.755000,0.946000,10.5913
synonymous_variant,PTPRH,SILENT,NM_002842.4:p.Leu640Leu/c.1918T>C,Ttg/Ctg,LOW,,0.678914,0.4127,rs2288521,,,,,,chr19,55708557,55708557,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu462Leu/c.1384T>C|937|PTPRH|protein_coding|CODING|NM_001161440.2|7|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu640Leu/c.1918T>C|1115|PTPRH|protein_coding|CODING|NM_002842.4|9|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.6963,0.7176,0.66,0.72,0.83,0.66,,,,,,,,,,,,,,,,
missense_variant,PTPRH,MISSENSE,NM_002842.4:p.Leu543Phe/c.1627C>T,Ctc/Ttc,MODERATE,COSM3757240(2),0.0926518,0.0099,rs16986309,0.61(T),"0.018,0.01,0.004(B,B,B)",-0.11(N),-1.0282(T),,chr19,55710074,55710074,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu365Phe/c.1093C>T|937|PTPRH|protein_coding|CODING|NM_001161440.2|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu543Phe/c.1627C>T|1115|PTPRH|protein_coding|CODING|NM_002842.4|8|1)","HUVEC:H3K27me3,HepG2:Nrsf,K562:H3K36me3,H1ESC:H3K27me3,HeLa-S3:Nrsf,HepG2:H3K36me3,H1ESC:Nrsf,K562:Nrsf,GM12878:Nrsf",,,,0.089,0.1095,0.1213,0.12,0.14,0.12,,,1.000(P),"0.65,0.65(T,T)",0.0003(T),0.343,-1.164239,2.27,-0.302,0.561000,-0.107000,0.009000,0.056000,0.001000,0.000000,1.6305
missense_variant,PTPRH,MISSENSE,NM_002842.4:p.His348Tyr/c.1042C>T,Cac/Tac,MODERATE,COSM3757241(1),0.571286,0.4236,rs2288515,0.9(T),"0.01,0.003,0.003(B,B,B)",0(N),-0.9391(T),,chr19,55713535,55713535,G,A,het,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His170Tyr/c.508C>T|937|PTPRH|protein_coding|CODING|NM_001161440.2|4|1),missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His348Tyr/c.1042C>T|1115|PTPRH|protein_coding|CODING|NM_002842.4|6|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.5061,0.5879,0.4871,0.55,0.72,0.46,,,1.000(P),"0.4,0.4(T,T)",0.0000(T),0.09,2.865307,4.64,-2.67,-5.192000,-0.475000,-2.591000,0.000000,0.000000,0.000000,0.9618
synonymous_variant,PTPRH,SILENT,NM_002842.4:p.Thr171Thr/c.513T>C,acT/acC,LOW,COSM3757245(2),0.418331,0.1964,rs2288516,,,,,,chr19,55716800,55716800,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr171Thr/c.513T>C|1115|PTPRH|protein_coding|CODING|NM_002842.4|4|1),intron_variant(MODIFIER|||c.352+1257T>C|937|PTPRH|protein_coding|CODING|NM_001161440.2|3|1)","HepG2:H3K4me2,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K36me3",,,,0.4509,0.3213,0.4145,0.48,0.59,0.43,,,,,,,,,,,,,,,,
missense_variant,TMEM86B,MISSENSE,NM_173804.4:p.His199Arg/c.596A>G,cAc/cGc,MODERATE,,0.915136,0.878,rs4644955,1(T),0.0(B),-1.385(N),-0.9951(T),,chr19,55738634,55738634,T,C,hom,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His199Arg/c.596A>G|226|TMEM86B|protein_coding|CODING|NM_173804.4|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.819,0.9582,0.9125,0.93,0.98,0.90,,0.000160(N),1.000(P),2.17(T),0.0000(T),0.072,-1.855128,4.49,-0.279,-0.930000,-0.368000,1.068000,0.015000,0.438000,0.776000,7.3699
synonymous_variant,TMEM86B,SILENT,NM_173804.4:p.Leu162Leu/c.484C>T,Ctg/Ttg,LOW,COSM3757246(3),0.170927,0.0764,rs4374298,,,,,,chr19,55738746,55738746,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu162Leu/c.484C>T|226|TMEM86B|protein_coding|CODING|NM_173804.4|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1595,0.2219,0.1968,0.19,0.19,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TMEM86B,SILENT,NM_173804.4:p.Ser84Ser/c.252G>A,tcG/tcA,LOW,COSM3757247(3),0.168131,0.0754,rs4606850,,,,,,chr19,55739605,55739605,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser84Ser/c.252G>A|226|TMEM86B|protein_coding|CODING|NM_173804.4|2|1),downstream_gene_variant(MODIFIER||1542||881|PPP6R1|protein_coding|CODING|NM_014931.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1554,0.2205,0.1968,0.20,0.19,0.20,,,,,,,,,,,,,,,,
synonymous_variant,TMEM86B,SILENT,NM_173804.4:p.Pro56Pro/c.168C>T,ccC/ccT,LOW,COSM3766441(2),0.432708,0.5992,rs10413828,,,,,,chr19,55739689,55739689,G,A,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro56Pro/c.168C>T|226|TMEM86B|protein_coding|CODING|NM_173804.4|2|1),downstream_gene_variant(MODIFIER||1458||881|PPP6R1|protein_coding|CODING|NM_014931.3||1)","H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.408,0.4582,0.4175,0.36,0.30,0.39,,,,,,,,,,,,,,,,
synonymous_variant,PPP6R1,SILENT,NM_014931.3:p.Ala98Ala/c.294T>C,gcT/gcC,LOW,COSM440353(3),0.204073,0.1111,rs3745920,,,,,,chr19,55756980,55756980,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala98Ala/c.294T>C|881|PPP6R1|protein_coding|CODING|NM_014931.3|3|1),upstream_gene_variant(MODIFIER||362|||MIR6803||NON_CODING|NR_106861.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3047,0.2738,0.336,0.26,0.10,0.34,,,,,,,,,,,,,,,,
synonymous_variant,HSPBP1,SILENT,NM_001297600.1:p.Leu8Leu/c.24G>A,ctG/ctA,LOW,,0.672125,0.9058,rs62126354,,,,,,chr19,55791091,55791091,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu8Leu/c.24G>A|405|HSPBP1|protein_coding|CODING|NM_001297600.1|1|1),intron_variant(MODIFIER|||c.-94-21G>A|359|HSPBP1|protein_coding|CODING|NM_001130106.1|2|1),intron_variant(MODIFIER|||c.-94-21G>A|359|HSPBP1|protein_coding|CODING|NM_012267.4|1|1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HUVEC:H3K4me2,CD4:H3K36ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,H1ESC:Sin3Ak20,HepG2:H3K27me3,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6616,0.6311,0.5258,,,,,,,,,,,,,,,,,,,
missense_variant,FAM71E2,MISSENSE,NM_001145402.1:p.Glu782Lys/c.2344G>A,Gag/Aag,MODERATE,,0.0948482,0.0079,rs28420516,0.3(T),0.001(B),0(N),-0.9388(T),,chr19,55869892,55869892,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu782Lys/c.2344G>A|922|FAM71E2|protein_coding|CODING|NM_001145402.1|9|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0838,0.0937,0.1491,0.12,0.10,0.13,,,1.000(N),2.59(T),0.0002(T),0.024,2.237686,1.68,-2.51,0.000000,-0.283000,0.000000,0.202000,0.002000,0.010000,5.0127
missense_variant,FAM71E2,MISSENSE,NM_001145402.1:p.Gln778Arg/c.2333A>G,cAg/cGg,MODERATE,,0.48103,0.1845,rs28712579,0.51(T),0.0(B),0.345(N),-0.9389(T),,chr19,55869903,55869903,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln778Arg/c.2333A>G|922|FAM71E2|protein_coding|CODING|NM_001145402.1|9|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5941,0.5,0.7078,,,,,,1.000(N),2.74(T),0.0153(T),0.042,0.856899,2.14,-0.739,0.000000,-0.296000,0.000000,0.032000,0.000000,0.002000,2.8909
missense_variant,FAM71E2,MISSENSE,NM_001145402.1:p.Pro711Arg/c.2132C>G,cCc/cGc,MODERATE,COSM4132596(1),0.950879,0.9315,rs12974819,0.9(T),0.0(B),,-1.0144(T),,chr19,55870104,55870104,G,C,hom,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro711Arg/c.2132C>G|922|FAM71E2|protein_coding|CODING|NM_001145402.1|9|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9693,0.9107,0.998,0.98,0.96,0.99,,,1.000(P),2.86(T),0.0000(T),0.013,-1.672993,3.61,-5.81,-1.019000,-1.441000,-0.470000,0.008000,0.000000,0.000000,7.1412
synonymous_variant,FAM71E2,SILENT,NM_001145402.1:p.Ala649Ala/c.1947G>A,gcG/gcA,LOW,COSM4132598(1),0.875399,0.9246,rs12974907,,,,,,chr19,55870289,55870289,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala649Ala/c.1947G>A|922|FAM71E2|protein_coding|CODING|NM_001145402.1|9|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8988,0.8372,0.8738,0.86,0.86,0.87,,,,,,,,,,,,,,,,
missense_variant,FAM71E2,MISSENSE,NM_001145402.1:p.Lys629Glu/c.1885A>G,Aag/Gag,MODERATE,COSM4132600(1),0.875599,0.9246,rs12976922,0.61(T),0.0(B),,-1.0463(T),,chr19,55870351,55870351,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys629Glu/c.1885A>G|922|FAM71E2|protein_coding|CODING|NM_001145402.1|9|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8988,0.8372,0.8738,0.86,0.86,0.87,,,1.000(P),2.67(T),0.0000(T),0.02,0.581480,3.92,0.394,-1.009000,-0.154000,-0.003000,0.007000,0.000000,0.000000,2.5642
missense_variant,FAM71E2,MISSENSE,NM_001145402.1:p.Glu546Gln/c.1636G>C,Gaa/Caa,MODERATE,,0.950679,0.9315,rs12460416,0.92(T),0.0(B),,-0.9776(T),,chr19,55870600,55870600,C,G,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu546Gln/c.1636G>C|922|FAM71E2|protein_coding|CODING|NM_001145402.1|9|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.9683,0.9107,0.998,0.98,0.96,0.99,,,1.000(P),2.89(T),0.0000(T),0.008,-1.117977,3.2,2.16,-0.232000,0.398000,2.508000,0.004000,0.000000,0.309000,6.5604
missense_variant,FAM71E2,MISSENSE,NM_001145402.1:p.Leu406Pro/c.1217T>C,cTt/cCt,MODERATE,COSM4132603(1),0.943291,0.9315,rs12609732,1(T),0.0(B),,-0.9757(T),,chr19,55871019,55871019,A,G,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu406Pro/c.1217T>C|922|FAM71E2|protein_coding|CODING|NM_001145402.1|9|1),"H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9693,0.9092,0.998,0.97,0.93,0.99,,,1.000(P),2.87(T),0.0000(T),0.012,-1.834489,3.47,-0.242,-0.232000,-0.153000,-0.131000,0.006000,0.000000,0.000000,1.3897
synonymous_variant,FAM71E2,SILENT,NM_001145402.1:p.Ala243Ala/c.729T>C,gcT/gcC,LOW,COSM4132605(1),0.951278,0.9315,rs2124918,,,,,,chr19,55872397,55872397,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala243Ala/c.729T>C|922|FAM71E2|protein_coding|CODING|NM_001145402.1|6|1),"H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.9693,0.9092,0.998,0.98,0.96,0.99,,,,,,,,,,,,,,,,
synonymous_variant,FAM71E2,SILENT,NM_001145402.1:p.Ala210Ala/c.630T>C,gcT/gcC,LOW,COSM4132606(2),0.988618,0.9444,rs2124919,,,,,,chr19,55872566,55872566,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala210Ala/c.630T>C|922|FAM71E2|protein_coding|CODING|NM_001145402.1|5|1),HepG2:H3K27me3,,,,0.999,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,FAM71E2,MISSENSE,NM_001145402.1:p.Glu179Lys/c.535G>A,Gaa/Aaa,MODERATE,,0.785743,0.8889,rs4252574,0.92(T),0.0(B),-0.345(N),-0.9611(T),,chr19,55873642,55873642,C,T,het,missense_variant(MODERATE|MISSENSE|Gaa/Aaa|p.Glu179Lys/c.535G>A|922|FAM71E2|protein_coding|CODING|NM_001145402.1|3|1),"H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.8824,0.7882,0.8658,,,,,0.190522(N),1.000(P),2.75(T),0.0000(T),0.046,-0.408269,3.63,-7.26,-1.162000,-1.142000,-2.241000,0.011000,0.000000,0.000000,0.6381
synonymous_variant,IL11,SILENT,NM_000641.3:p.Ala82Ala/c.246G>A,gcG/gcA,LOW,COSM3757255(2),0.394369,0.7093,rs1126757,,,,,,chr19,55879872,55879872,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala82Ala/c.246G>A|199|IL11|protein_coding|CODING|NM_000641.3|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala3Ala/c.9G>A|120|IL11|protein_coding|CODING|NM_001267718.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,IMR90:H3K9ac,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",Response_to_antidepressants,,,0.455,0.4452,0.4722,0.34,0.10,0.47,,,,,,,,,,,,,,,,
missense_variant,TMEM238,MISSENSE,NM_001190764.1:p.Pro14Ser/c.40C>T,Ccg/Tcg,MODERATE,COSM4132611(2),0.667133,0.8879,rs1870074,0.26(T),,0.345(N),-1.0043(T),,chr19,55895588,55895588,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ccg/Tcg|p.Pro14Ser/c.40C>T|176|TMEM238|protein_coding|CODING|NM_001190764.1|1|1),upstream_gene_variant(MODIFIER||1712||137|RPL28|protein_coding|CODING|NM_000991.4||1),upstream_gene_variant(MODIFIER||1712||163|RPL28|protein_coding|CODING|NM_001136134.1||1),upstream_gene_variant(MODIFIER||1712||169|RPL28|protein_coding|CODING|NM_001136135.1||1),upstream_gene_variant(MODIFIER||1712||87|RPL28|protein_coding|CODING|NM_001136136.1||1),upstream_gene_variant(MODIFIER||1712||69|RPL28|protein_coding|CODING|NM_001136137.1||1)","NHEK:CTCF,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,K562:E2F6,HeLa-S3:PolII,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,K562:Yy1,HeLa-S3:H3K4me3,HMEC:DNase1,HeLa-S3:E2F1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF",,,,0.863,0.7277,0.8579,,,,,,1.000(P),,0.0000(T),0.113,1.656703,4.33,-6.39,-0.133000,-0.686000,-1.156000,0.004000,0.000000,0.000000,4.353
missense_variant,RPL28,MISSENSE,NM_001136135.1:p.Gly115Glu/c.344G>A,gGg/gAg,MODERATE,,0.0275559,0,rs45448592,0.01(D),0.0(B),0(N),-1.0761(T),,chr19,55902941,55902941,G,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly115Glu/c.344G>A|169|RPL28|protein_coding|CODING|NM_001136135.1|5|1),3_prime_UTR_variant(MODIFIER||3357|c.*3357G>A|163|RPL28|protein_coding|CODING|NM_001136134.1|4|1),3_prime_UTR_variant(MODIFIER||3241|c.*3241G>A|137|RPL28|protein_coding|CODING|NM_000991.4|5|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H4K20me1,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.0112,0.0677,0.0557,0.06,0.04,0.07,,,1.000(N),0.93(T),0.0031(T),0.045,-0.852224,1.05,-2.11,-2.092000,-2.058000,-2.378000,0.004000,0.000000,0.005000,4.0713
missense_variant,UBE2S,MISSENSE,NM_014501.2:p.Glu176Ala/c.527A>C,gAa/gCa,MODERATE,,0.0389377,0,rs61748180,0.67(T),0.0(B),-0.345(N),-1.0613(T),,chr19,55912946,55912946,T,G,het,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu176Ala/c.527A>C|222|UBE2S|protein_coding|CODING|NM_014501.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0893,0.0865,,,,,0.149853(N),0.846(D),0.36(T),0.0024(T),0.068,-1.590515,4.56,0.755,-0.217000,0.117000,1.161000,0.032000,0.001000,0.003000,4.4617
synonymous_variant,UBE2S,SILENT,NM_014501.2:p.Ala145Ala/c.435G>A,gcG/gcA,LOW,COSM4132618(1),0.580871,0.4831,rs7608,,,,,,chr19,55913038,55913038,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala145Ala/c.435G>A|222|UBE2S|protein_coding|CODING|NM_014501.2|4|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.5828,0.5663,0.6978,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF628,MISSENSE,NM_033113.2:p.Thr234Ala/c.700A>G,Acc/Gcc,MODERATE,COSM3749551(9),0.761781,0.4395,rs34864744,0.35(T),0.0(B),0(N),-1.0860(T),,chr19,55993260,55993260,A,G,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr234Ala/c.700A>G|1059|ZNF628|protein_coding|CODING|NM_033113.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7986,0.732,0.837,,,,,,1.000(P),3.12(T),0.0000(T),0.137,-2.964343,3.0,-0.723,-2.335000,-0.261000,-0.265000,0.007000,0.001000,0.324000,6.0751
synonymous_variant,ZNF628,SILENT,NM_033113.2:p.Glu410Glu/c.1230A>G,gaA/gaG,LOW,COSM4132620(1),0.601238,0.3274,rs7254184,,,,,,chr19,55993790,55993790,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu410Glu/c.1230A>G|1059|ZNF628|protein_coding|CODING|NM_033113.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7556,0.6254,0.7306,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF628,MISSENSE,NM_033113.2:p.Val439Ala/c.1316T>C,gTc/gCc,MODERATE,COSM3757257(3),0.745208,0.4504,rs10423355,0.3(T),0.0(B),-0.55(N),-1.1036(T),,chr19,55993876,55993876,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val439Ala/c.1316T>C|1059|ZNF628|protein_coding|CODING|NM_033113.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8057,0.7219,0.8241,,,,,0.590644(N),1.000(P),3.28(T),0.0000(T),0.072,-1.322105,2.03,0.928,-0.365000,0.014000,-0.210000,0.001000,0.001000,0.000000,3.4314
synonymous_variant,ZNF628,SILENT,NM_033113.2:p.His560His/c.1680C>T,caC/caT,LOW,COSM3749555(3),0.568091,0.4375,rs12981044,,,,,,chr19,55994240,55994240,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His560His/c.1680C>T|1059|ZNF628|protein_coding|CODING|NM_033113.2|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.536,0.5368,0.59,0.65,0.57,,,,,,,,,,,,,,,,
synonymous_variant,ZNF628,SILENT,NM_033113.2:p.Pro904Pro/c.2712G>A,ccG/ccA,LOW,COSM3757261(2),0.235823,0.0149,rs11550705,,,,,,chr19,55995272,55995272,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro904Pro/c.2712G>A|1059|ZNF628|protein_coding|CODING|NM_033113.2|3|1),upstream_gene_variant(MODIFIER||1285||206|NAT14|protein_coding|CODING|NM_020378.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4305,0.2781,0.4404,0.35,0.12,0.46,,,,,,,,,,,,,,,,
missense_variant,NAT14,MISSENSE,NM_020378.3:p.Ala187Val/c.560C>T,gCc/gTc,MODERATE,,0.110623,0.0169,rs77664073,1(T),0.001(B),-0.04(N),-1.0571(T),,chr19,55998262,55998262,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala187Val/c.560C>T|206|NAT14|protein_coding|CODING|NM_020378.3|3|1),upstream_gene_variant(MODIFIER||1608||1573|SSC5D|protein_coding|CODING|NM_001144950.1||1),upstream_gene_variant(MODIFIER||1608||951|SSC5D|protein_coding|CODING|NM_001195267.1||1)","H1ESC:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:H3K27ac,IMR90:H3K36me3,IMR90:H3K27ac,NHEK:H3K36me3,HUVEC:H3K27ac",,,,0.1646,0.1441,0.2237,0.15,0.06,0.19,,0.390290(N),0.844(P),,0.0000(T),0.048,1.996150,4.45,4.45,0.462000,2.207000,0.495000,0.863000,0.929000,0.000000,8.7563
synonymous_variant,SSC5D,SILENT,NM_001144950.1:p.Gly76Gly/c.228G>T,ggG/ggT,LOW,COSM3766447(1),0.0950479,0.0139,rs62130160,,,,,,chr19,56000896,56000896,G,T,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly76Gly/c.228G>T|1573|SSC5D|protein_coding|CODING|NM_001144950.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly76Gly/c.228G>T|951|SSC5D|protein_coding|CODING|NM_001195267.1|3|1),downstream_gene_variant(MODIFIER||1961||206|NAT14|protein_coding|CODING|NM_020378.3||1)","H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.1585,0.1153,0.1849,,,,,,,,,,,,,,,,,,,
missense_variant,SSC5D,MISSENSE,NM_001144950.1:p.Gly536Ser/c.1606G>A,Ggc/Agc,MODERATE,,0.0257588,0,rs11672130,0.29(T),0.65(P),0.41(N),-1.0050(T),,chr19,56009465,56009465,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly536Ser/c.1606G>A|1573|SSC5D|protein_coding|CODING|NM_001144950.1|9|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly536Ser/c.1606G>A|951|SSC5D|protein_coding|CODING|NM_001195267.1|9|1)","IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0317,0.0476,0.0596,0.05,0.01,0.06,,0.867993(N),1.000(N),-0.6(T),0.0302(T),0.029,2.282081,4.28,-3.35,-0.154000,-0.576000,-1.562000,0.865000,0.043000,0.000000,5.6026
synonymous_variant,SSC5D,SILENT,NM_001144950.1:p.Thr661Thr/c.1983C>T,acC/acT,LOW,COSM3757266(2),0.385982,0.2302,rs4801713,,,,,,chr19,56011460,56011460,C,T,hom,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr661Thr/c.1983C>T|1573|SSC5D|protein_coding|CODING|NM_001144950.1|10|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr661Thr/c.1983C>T|951|SSC5D|protein_coding|CODING|NM_001195267.1|10|1)","IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6288,0.3847,0.5606,0.47,0.24,0.58,,,,,,,,,,,,,,,,
missense_variant,SSC5D,MISSENSE,NM_001144950.1:p.Leu976Pro/c.2927T>C,cTg/cCg,MODERATE,,0.971246,0.878,rs671542,0.18(T),0.0(B),-0.91(N),-1.0083(T),,chr19,56024519,56024519,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu976Pro/c.2927T>C|1573|SSC5D|protein_coding|CODING|NM_001144950.1|13|1),"GM06990:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9888,0.9942,1,1.00,1.00,1.00,,,1.000(P),5.22(T),0.0000(T),0.126,-1.153439,3.13,2.06,-0.200000,0.339000,0.846000,0.003000,0.003000,0.002000,4.7114
missense_variant,SSC5D,MISSENSE,NM_001144950.1:p.Met1274Ile/c.3822G>A,atG/atA,MODERATE,COSM4132628(1),0.965855,0.869,rs111155293,0.96(T),0.0(B),0(N),-0.9969(T),,chr19,56029465,56029465,G,A,hom,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met1274Ile/c.3822G>A|1573|SSC5D|protein_coding|CODING|NM_001144950.1|14|1),"H1ESC:H3K27me3,IMR90:H3K36me3",,,,0.9898,0.9928,1,0.99,0.98,1.00,,,1.000(P),5.31(T),0.0000(T),0.054,1.020135,1.99,0.794,-1.110000,-0.023000,-0.297000,0.003000,0.001000,0.000000,3.8087
missense_variant,SBK2,MISSENSE,NM_001101401.2:p.Ala298Pro/c.892G>C,Gcc/Ccc,MODERATE,COSM3749558(19),0.964058,0.8829,rs620251,1(T),0.003(B),-0.795(N),-0.9640(T),,chr19,56041255,56041255,C,G,hom,missense_variant(MODERATE|MISSENSE|Gcc/Ccc|p.Ala298Pro/c.892G>C|348|SBK2|protein_coding|CODING|NM_001101401.2|4|1),"H1ESC:DNase1,NHEK:H3K27me3",,,,0.9836,0.9654,0.9891,0.99,0.99,0.99,,0.000130(N),1.000(P),"-0.16,-0.16(T,T)",0.0000(T),0.066,-1.214114,3.76,0.193,-1.508000,-0.186000,1.012000,0.008000,0.000000,0.003000,2.4764
missense_variant,SBK2,MISSENSE,NM_001101401.2:p.Cys72Arg/c.214T>C,Tgc/Cgc,MODERATE,,0.917931,0.8472,rs310453,0.32(T),0.0(B),0.955(L),-1.0094(T),,chr19,56047448,56047448,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys72Arg/c.214T>C|348|SBK2|protein_coding|CODING|NM_001101401.2|2|1),NHEK:H3K27me3,,,,0.9274,0.9222,0.9085,0.92,0.96,0.90,,0.008072(N),0.006(P),"0.84,0.84(T,T)",0.0000(T),0.064,0.553706,4.44,4.44,-0.355000,1.014000,1.945000,0.362000,0.992000,0.982000,7.4188
synonymous_variant,SBK3,SILENT,NM_001199824.2:p.Pro174Pro/c.522G>A,ccG/ccA,LOW,,0.810903,0.6429,rs654439,,,,,,chr19,56052770,56052770,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro174Pro/c.522G>A|358|SBK3|protein_coding|CODING|NM_001199824.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE),,,,,0.8395,0.7983,0.8976,,,,,,,,,,,,,,,,,,,
synonymous_variant,SBK3,SILENT,NM_001199824.2:p.Leu59Leu/c.177T>C,ctT/ctC,LOW,COSM4132634(1),0.819489,0.6528,rs491639,,,,,,chr19,56056184,56056184,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu59Leu/c.177T>C|358|SBK3|protein_coding|CODING|NM_001199824.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:ZBTB7A,K562:Max,H1ESC:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,K562:DNase1",,,,0.8415,0.8055,0.9046,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF579,SILENT,NM_152600.2:p.Lys551Lys/c.1653G>A,aaG/aaA,LOW,,0.464457,0.2639,rs2292812,,,,,,chr19,56089353,56089353,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys551Lys/c.1653G>A|562|ZNF579|protein_coding|CODING|NM_152600.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6207,0.5216,0.504,0.49,0.44,0.52,,,,,,,,,,,,,,,,
missense_variant,FIZ1,MISSENSE,NM_032836.2:p.Thr391Ala/c.1171A>G,Acc/Gcc,MODERATE,COSM3749561(7),0.784944,0.5585,rs7247236,0(D),0.0(B),-0.55(N),-1.0530(T),,chr19,56104136,56104136,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr391Ala/c.1171A>G|496|FIZ1|protein_coding|CODING|NM_032836.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8405,0.7824,0.8062,0.85,0.89,0.83,,,1.000(P),3.08(T),0.0000(T),0.069,-2.695867,3.0,-2.05,-1.476000,-0.613000,-1.888000,0.044000,0.000000,0.000000,0.408
synonymous_variant,FIZ1,SILENT,NM_032836.2:p.Gln261Gln/c.783G>A,caG/caA,LOW,COSM4132636(1),0.250998,0.2014,rs10403432,,,,,,chr19,56104524,56104524,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln261Gln/c.783G>A|496|FIZ1|protein_coding|CODING|NM_032836.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2658,0.3069,0.3171,,,,,,,,,,,,,,,,,,,
synonymous_variant,FIZ1,SILENT,NM_032836.2:p.Thr249Thr/c.747G>C,acG/acC,LOW,COSM4132637(2),0.251597,0.2014,rs10403462,,,,,,chr19,56104560,56104560,C,G,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr249Thr/c.747G>C|496|FIZ1|protein_coding|CODING|NM_032836.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2648,0.3069,0.3221,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF524,SILENT,NM_153219.2:p.His189His/c.567C>T,caC/caT,LOW,COSM3749562(8),0.528754,0.6329,rs1077806,,,,,,chr19,56114045,56114045,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His189His/c.567C>T|264|ZNF524|protein_coding|CODING|NM_153219.2|2|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6544,0.4726,0.5298,0.46,0.40,0.49,,,,,,,,,,,,,,,,
synonymous_variant,ZNF524,SILENT,NM_153219.2:p.Glu253Glu/c.759G>A,gaG/gaA,LOW,COSM3933198(2),0.838059,0.8413,rs310459,,,,,,chr19,56114237,56114237,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu253Glu/c.759G>A|264|ZNF524|protein_coding|CODING|NM_153219.2|2|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9243,0.8314,0.9304,0.87,0.75,0.93,,,,,,,,,,,,,,,,
missense_variant,ZNF865,MISSENSE,NM_001195605.1:p.Ala199Thr/c.595G>A,Gcg/Acg,MODERATE,,,,,,,,,,chr19,56125579,56125579,G,A,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala199Thr/c.595G>A|1059|ZNF865|protein_coding|CODING|NM_001195605.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF865,MISSENSE,NM_001195605.1:p.Pro737Leu/c.2210C>T,cCg/cTg,MODERATE,,,,,,,,,,chr19,56127194,56127194,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro737Leu/c.2210C>T|1059|ZNF865|protein_coding|CODING|NM_001195605.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CCDC106,SILENT,NM_013301.2:p.Ser147Ser/c.441C>T,agC/agT,LOW,COSM1396634(1),0.789337,0.6984,rs2287791,,,,,,chr19,56162776,56162776,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser147Ser/c.441C>T|280|CCDC106|protein_coding|CODING|NM_013301.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8364,0.928,0.9026,0.84,0.70,0.92,,,,,,,,,,,,,,,,
synonymous_variant,U2AF2,SILENT,NM_007279.2:p.Asp401Asp/c.1203C>T,gaC/gaT,LOW,COSM1396639(2),0.777356,0.6875,rs617073,,,,,,chr19,56180968,56180968,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp397Asp/c.1191C>T|471|U2AF2|protein_coding|CODING|NM_001012478.1|11|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp401Asp/c.1203C>T|475|U2AF2|protein_coding|CODING|NM_007279.2|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8405,0.9222,0.8996,0.83,0.67,0.91,,,,,,,,,,,,,,,,
synonymous_variant,NLRP9,SILENT,NM_176820.3:p.Leu642Leu/c.1926T>C,ctT/ctC,LOW,,0.9998,0.999,rs193384,,,,,,chr19,56241265,56241265,A,G,hom,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu642Leu/c.1926T>C|991|NLRP9|protein_coding|CODING|NM_176820.3|3|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,NLRP9,SILENT,NM_176820.3:p.Phe23Phe/c.69T>C,ttT/ttC,LOW,COSM1396683(3),0.190296,0.1786,rs56211941,,,,,,chr19,56249672,56249672,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe23Phe/c.69T>C|991|NLRP9|protein_coding|CODING|NM_176820.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3947,0.2349,0.2068,0.15,0.04,0.20,,,,,,,,,,,,,,,,
synonymous_variant,RFPL4A,SILENT,NM_001145014.1:p.Pro249Pro/c.747C>A,ccC/ccA,LOW,COSM4000967(3),,,rs150161449,,,,,,chr19,56274424,56274424,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro249Pro/c.747C>A|287|RFPL4A|protein_coding|CODING|NM_001145014.1|3|1),"GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,RFPL4A,MISSENSE,NM_001145014.1:p.Gly259Glu/c.776G>A,gGa/gAa,MODERATE,COSM148754(2),,,rs75239380,0.34(T),0.009(B),-0.74(N),-1.0615(T),,chr19,56274453,56274453,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly259Glu/c.776G>A|287|RFPL4A|protein_coding|CODING|NM_001145014.1|3|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(P),0.02(T),0.0605(T),0.259,-1.580299,2.78,-5.56,-1.408000,-1.696000,-1.179000,0.000000,0.000000,0.000000,1.2915
synonymous_variant,RFPL4AL1,SILENT,NM_001277397.1:p.Val172Val/c.516C>G,gtC/gtG,LOW,COSM4000969(2),,,rs117388121,,,,,,chr19,56284197,56284197,C,G,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val172Val/c.516C>G|287|RFPL4AL1|protein_coding|CODING|NM_001277397.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,RFPL4AL1,SILENT,NM_001277397.1:p.Pro249Pro/c.747C>A,ccC/ccA,LOW,COSM4000970(3),,,rs150473927,,,,,,chr19,56284428,56284428,C,A,het,synonymous_variant(LOW|SILENT|ccC/ccA|p.Pro249Pro/c.747C>A|287|RFPL4AL1|protein_coding|CODING|NM_001277397.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,RFPL4AL1,MISSENSE,NM_001277397.1:p.Gly259Glu/c.776G>A,gGa/gAa,MODERATE,,,,rs78244980,0.61(T),,-0.29(N),-0.9917(T),,chr19,56284457,56284457,G,A,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly259Glu/c.776G>A|287|RFPL4AL1|protein_coding|CODING|NM_001277397.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,0.02(T),0.0741(T),0.145,-1.248101,1.79,-3.31,-0.683000,-0.643000,-0.753000,0.022000,0.000000,0.000000,6.5486
missense_variant,RFPL4AL1,MISSENSE,NM_001277397.1:p.Ser276Ala/c.826T>G,Tcc/Gcc,MODERATE,COSM4000973(2),0.501398,0.4821,rs115250131,1(T),,-0.235(N),-1.0108(T),,chr19,56284507,56284507,T,G,het,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser276Ala/c.826T>G|287|RFPL4AL1|protein_coding|CODING|NM_001277397.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5716,0.4035,0.336,,,,,,,0.51(T),0.0457(T),0.133,-0.224391,1.5,0.26,-0.672000,-0.220000,-0.225000,0.009000,0.000000,0.000000,0.4952
missense_variant,RFPL4AL1,MISSENSE,NM_001277397.1:p.Thr277Ser/c.830C>G,aCt/aGt,MODERATE,COSM145047(3),0.501398,0.4821,rs112094956,0.72(T),,-0.915(N),-0.9812(T),,chr19,56284511,56284511,C,G,het,missense_variant(MODERATE|MISSENSE|aCt/aGt|p.Thr277Ser/c.830C>G|287|RFPL4AL1|protein_coding|CODING|NM_001277397.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5716,0.4035,0.336,,,,,,,0.54(T),0.0000(T),0.042,-2.169994,1.16,-2.33,-0.671000,-2.009000,-1.893000,0.005000,0.000000,0.000000,5.3008
missense_variant,RFPL4AL1,MISSENSE,NM_001277397.1:p.Ser283Tyr/c.848C>A,tCt/tAt,MODERATE,COSM4000974(2),,,rs199519773,0.1(T),,-1.53(N),-1.0549(T),,chr19,56284529,56284529,C,A,het,missense_variant(MODERATE|MISSENSE|tCt/tAt|p.Ser283Tyr/c.848C>A|287|RFPL4AL1|protein_coding|CODING|NM_001277397.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,0.44(T),0.0343(T),0.139,-1.076594,1.69,-3.38,-2.562000,-1.463000,-0.528000,0.001000,0.000000,0.000000,0.8539
missense_variant,RFPL4AL1,MISSENSE,NM_001277397.1:p.Glu285Gly/c.854A>G,gAg/gGg,MODERATE,COSM4000975(1),,,rs144990325,0.41(T),,0.895(L),-1.0259(T),,chr19,56284535,56284535,A,G,het,missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu285Gly/c.854A>G|287|RFPL4AL1|protein_coding|CODING|NM_001277397.1|2|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,0.41(T),0.0763(T),0.195,-0.728609,.,.,-1.895000,-1.871000,-2.182000,0.002000,0.000000,0.000000,.
synonymous_variant,NLRP11,SILENT,NM_145007.3:p.Cys735Cys/c.2205T>C,tgT/tgC,LOW,COSM148756(1),0.672125,0.6677,rs2616940,,,,,,chr19,56307583,56307583,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys636Cys/c.1908T>C|934|NLRP11|protein_coding|CODING|NM_001297743.1|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys735Cys/c.2205T>C|1033|NLRP11|protein_coding|CODING|NM_145007.3|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.5,0.7579,0.7237,0.72,0.73,0.71,,,,,,,,,,,,,,,,
missense_variant,NLRP11,MISSENSE,NM_145007.3:p.Pro438Leu/c.1313C>T,cCg/cTg,MODERATE,COSM148757(3),0.233826,0.2758,rs12461110,0.08(T),"0.195,0.668(B,P)",0.895(L),-1.0153(T),,chr19,56320663,56320663,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro339Leu/c.1016C>T|934|NLRP11|protein_coding|CODING|NM_001297743.1|2|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro438Leu/c.1313C>T|1033|NLRP11|protein_coding|CODING|NM_145007.3|5|1)","H1ESC:H3K27me3,HepG2:H3K27me3,K562:H3K4me2,K562:H2AZ","Menopause_age_at_onset,Menopause_age_at_onset",,,0.2761,0.3415,0.338,0.26,0.08,0.34,,,1.000(P),"-0.85,-0.79(T,T)",0.0000(T),0.075,0.897941,2.2,-4.4,-0.868000,-2.453000,-2.428000,0.000000,0.000000,0.000000,6.5746
missense_variant,NLRP11,MISSENSE,NM_145007.3:p.Ala188Ser/c.562G>T,Gct/Tct,MODERATE,,0.977835,0.999,rs299163,0.57(T),"0.001,0.001(B,B)",-0.205(N),-0.9844(T),,chr19,56321414,56321414,C,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala89Ser/c.265G>T|934|NLRP11|protein_coding|CODING|NM_001297743.1|2|1),missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala188Ser/c.562G>T|1033|NLRP11|protein_coding|CODING|NM_145007.3|5|1)",HepG2:H3K27me3,,,,0.9888,0.9611,0.9324,0.95,0.99,0.93,,,1.000(P),"-1.14,-1.14(T,T)",0.0000(T),0.06,-1.272080,2.55,0.306,-2.610000,-0.337000,0.833000,0.000000,0.000000,0.000000,9.4949
synonymous_variant,NLRP11,SILENT,NM_145007.3:p.Gly153Gly/c.459A>G,ggA/ggG,LOW,COSM4000976(1),0.175319,0.2351,rs7249635,,,,,,chr19,56321517,56321517,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly54Gly/c.162A>G|934|NLRP11|protein_coding|CODING|NM_001297743.1|2|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly153Gly/c.459A>G|1033|NLRP11|protein_coding|CODING|NM_145007.3|5|1)",,,,,0.1104,0.0519,0.0517,0.13,0.28,0.05,,,,,,,,,,,,,,,,
missense_variant,NLRP4,MISSENSE,NM_134444.4:p.Ala144Thr/c.430G>A,Gct/Act,MODERATE,COSM3757275(1),0.515775,0.6657,rs441827,0.74(T),"0.0,0.0(B,B)",-0.805(N),-1.0477(T),,chr19,56369189,56369189,G,A,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala144Thr/c.430G>A|994|NLRP4|protein_coding|CODING|NM_134444.4|3|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6288,0.464,0.3827,0.39,0.43,0.37,,,1.000(P),"-1.52,-1.52(D,D)",0.0000(T),0.013,-1.267515,3.45,-6.89,-1.104000,-2.679000,-0.507000,0.000000,0.000000,0.000000,9.486
synonymous_variant,NLRP4,SILENT,NM_134444.4:p.Ile152Ile/c.456C>T,atC/atT,LOW,COSM3757277(1),0.515974,0.6657,rs395503,,,,,,chr19,56369215,56369215,C,T,het,synonymous_variant(LOW|SILENT|atC/atT|p.Ile152Ile/c.456C>T|994|NLRP4|protein_coding|CODING|NM_134444.4|3|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6288,0.464,0.3827,0.39,0.43,0.37,,,,,,,,,,,,,,,,
synonymous_variant,NLRP4,SILENT,NM_134444.4:p.Ala278Ala/c.834T>C,gcT/gcC,LOW,COSM3757279(1),0.53135,0.6657,rs421810,,,,,,chr19,56369593,56369593,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala278Ala/c.834T>C|994|NLRP4|protein_coding|CODING|NM_134444.4|3|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6401,0.4841,0.4274,0.43,0.44,0.42,,,,,,,,,,,,,,,,
synonymous_variant,NLRP4,SILENT,NM_134444.4:p.His469His/c.1407C>T,caC/caT,LOW,COSM3757282(1),0.104233,0.1647,rs379327,,,,,,chr19,56370166,56370166,C,T,het,synonymous_variant(LOW|SILENT|caC/caT|p.His469His/c.1407C>T|994|NLRP4|protein_coding|CODING|NM_134444.4|3|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1043,0.196,0.1093,0.09,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,NLRP4,MISSENSE,NM_134444.4:p.Gln925Leu/c.2774A>T,cAg/cTg,MODERATE,,0.135783,0.1637,rs302453,0.34(T),"0.0,0.005,0.0(B,B,B)",0.06(N),-0.9931(T),,chr19,56390237,56390237,A,T,het,missense_variant(MODERATE|MISSENSE|cAg/cTg|p.Gln925Leu/c.2774A>T|994|NLRP4|protein_coding|CODING|NM_134444.4|9|1),HeLa-S3:H3K27me3,,,,0.1278,0.2089,0.2187,0.19,0.05,0.27,,,1.000(P),"0.97,0.97(T,T)",0.0000(T),0.062,0.699873,3.92,-7.21,-0.672000,-1.354000,-0.723000,0.002000,0.000000,0.000000,3.4525
synonymous_variant,NLRP4,SILENT,NM_134444.4:p.Leu969Leu/c.2907T>G,ctT/ctG,LOW,COSM148758(1),0.250998,0.2063,rs302456,,,,,,chr19,56392875,56392875,T,G,het,synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu969Leu/c.2907T>G|994|NLRP4|protein_coding|CODING|NM_134444.4|10|1),HepG2:H3K27me3,,,,0.1554,0.2839,0.2326,0.30,0.33,0.28,,,,,,,,,,,,,,,,
synonymous_variant,NLRP13,SILENT,NM_176810.2:p.Leu957Leu/c.2871G>A,ttG/ttA,LOW,COSM4132648(1),0.278554,0.4246,rs302827,,,,,,chr19,56410222,56410222,C,T,het,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu957Leu/c.2871G>A|1043|NLRP13|protein_coding|CODING|NM_176810.2|10|1),HeLa-S3:H3K27me3,,,,0.3037,0.2493,0.2803,0.25,0.16,0.29,,,,,,,,,,,,,,,,
synonymous_variant,NLRP13,SILENT,NM_176810.2:p.His839His/c.2517C>T,caC/caT,LOW,,0.0513179,0,rs28506091,,,,,,chr19,56416409,56416409,G,A,het,synonymous_variant(LOW|SILENT|caC/caT|p.His839His/c.2517C>T|1043|NLRP13|protein_coding|CODING|NM_176810.2|8|1),,,,,0.0123,0.0735,0.0954,0.08,0.08,0.09,,,,,,,,,,,,,,,,
missense_variant,NLRP13,MISSENSE,NM_176810.2:p.Asn781Ser/c.2342A>G,aAc/aGc,MODERATE,COSM4000978(1),0.119808,0.119,rs17711239,0.1(T),0.727(P),1.525(L),-1.0483(T),,chr19,56419263,56419263,T,C,het,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn781Ser/c.2342A>G|1043|NLRP13|protein_coding|CODING|NM_176810.2|7|1),,,,,0.1442,0.0836,0.0974,0.11,0.13,0.10,,,1.000(P),0.6(T),0.0025(T),0.045,1.141650,2.18,1.15,-0.334000,0.309000,0.327000,0.025000,0.004000,0.000000,3.8947
missense_variant,NLRP8,MISSENSE,NM_176811.2:p.Pro25Leu/c.74C>T,cCg/cTg,MODERATE,COSM3757287(1),0.721246,0.8115,rs306507,0.79(T),"0.126,0.002(B,B)",0(N),-0.9034(T),,chr19,56459342,56459342,C,T,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro25Leu/c.74C>T|1048|NLRP8|protein_coding|CODING|NM_176811.2|1|1),H1ESC:H3K9me3,,,,0.7168,0.7565,0.5984,0.63,0.71,0.58,,,1.000(P),-0.77(T),0.0000(T),0.065,0.536617,1.85,0.802,-0.351000,0.358000,-0.441000,0.004000,0.003000,0.000000,4.3068
missense_variant,NLRP8,MISSENSE,NM_176811.2:p.Leu64Phe/c.190C>T,Ctc/Ttc,MODERATE,,0.0656949,0.005,rs61195059,0.14(T),"0.007,0.021(B,B)",1.15(L),-1.0727(T),,chr19,56459458,56459458,C,T,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu64Phe/c.190C>T|1048|NLRP8|protein_coding|CODING|NM_176811.2|1|1),H1ESC:H3K9me3,,,,0.0767,0.0648,0.0696,0.08,0.12,0.06,,,1.000(P),0.12(T),0.0020(T),0.017,-1.488451,1.75,-0.573,-1.322000,-0.067000,0.195000,0.002000,0.000000,0.022000,2.2831
missense_variant,NLRP8,MISSENSE,NM_176811.2:p.Val116Leu/c.346G>C,Gta/Cta,MODERATE,COSM3757288(1),0.726837,0.8135,rs306506,0.27(T),"0.0,0.001(B,B)",-0.69(N),-1.0270(T),,chr19,56459614,56459614,G,C,het,missense_variant(MODERATE|MISSENSE|Gta/Cta|p.Val116Leu/c.346G>C|1048|NLRP8|protein_coding|CODING|NM_176811.2|1|1),,,,,0.7168,0.7579,0.5974,0.63,0.73,0.58,,,1.000(P),0.4(T),0.0000(T),0.031,-1.363830,2.23,1.19,-0.281000,0.092000,-0.463000,0.001000,0.000000,0.000000,3.5601
missense_variant,NLRP8,MISSENSE,NM_176811.2:p.Gln268Arg/c.803A>G,cAg/cGg,MODERATE,,0.0716853,0.005,rs7259764,0.13(T),"0.931,0.566(D,P)",1.425(L),-1.0920(T),,chr19,56466227,56466227,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln268Arg/c.803A>G|1048|NLRP8|protein_coding|CODING|NM_176811.2|3|1),"GM12878:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0767,0.062,0.0716,0.08,0.13,0.06,,,1.000(P),2.18(T),0.0009(T),0.032,2.079765,2.04,-2.85,0.421000,-0.984000,-2.332000,0.010000,0.000000,0.000000,4.1677
synonymous_variant,NLRP8,SILENT,NM_176811.2:p.Glu619Glu/c.1857A>G,gaA/gaG,LOW,,0.0545128,0.005,rs61750024,,,,,,chr19,56467281,56467281,A,G,het,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu619Glu/c.1857A>G|1048|NLRP8|protein_coding|CODING|NM_176811.2|3|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0767,0.0533,0.0736,0.06,0.07,0.06,,,,,,,,,,,,,,,,
synonymous_variant,NLRP8,SILENT,NM_176811.2:p.Arg690Arg/c.2070T>C,cgT/cgC,LOW,COSM3757289(1),0.344249,0.2827,rs6509975,,,,,,chr19,56473460,56473460,T,C,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg690Arg/c.2070T>C|1048|NLRP8|protein_coding|CODING|NM_176811.2|4|1),HepG2:H3K27me3,,,,0.3538,0.3646,0.2972,0.34,0.40,0.30,,,,,,,,,,,,,,,,
missense_variant,NLRP8,MISSENSE,NM_176811.2:p.Lys937Arg/c.2810A>G,aAg/aGg,MODERATE,COSM3757291(1),0.563099,0.6657,rs306481,0.72(T),"0.018,0.03(B,B)",0.205(N),-0.9515(T),,chr19,56487603,56487603,A,G,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys937Arg/c.2810A>G|1048|NLRP8|protein_coding|CODING|NM_176811.2|8|1),HeLa-S3:H3K27me3,,,,0.6554,0.6037,0.5537,0.51,0.41,0.56,,,1.000(P),-0.02(T),0.0000(T),0.016,-1.470150,2.94,-5.02,-0.476000,-1.533000,-0.429000,0.011000,0.000000,0.000000,2.5502
missense_variant,NLRP5,MISSENSE,NM_153447.4:p.Glu254Gln/c.760G>C,Gaa/Caa,MODERATE,,,,,0.37(T),0.005(B),0.695(N),-1.0196(T),,chr19,56538359,56538359,G,C,het,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu254Gln/c.760G>C|1200|NLRP5|protein_coding|CODING|NM_153447.4|7|1),"GM12878:H3K36me3,K562:USF1,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,1.000(N),-0.69(T),0.1453(T),0.063,0.663932,2.92,-3.43,0.655000,-0.662000,-0.894000,0.008000,0.000000,0.000000,3.9692
synonymous_variant,NLRP5,SILENT,NM_153447.4:p.Asp411Asp/c.1233C>T,gaC/gaT,LOW,COSM1631109(1),0.0419329,0,rs1808663,,,,,,chr19,56538832,56538832,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp411Asp/c.1233C>T|1200|NLRP5|protein_coding|CODING|NM_153447.4|7|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0051,0.0735,0.0616,0.06,0.07,0.05,,,,,,,,,,,,,,,,
synonymous_variant,NLRP5,SILENT,NM_153447.4:p.Asp547Asp/c.1641C>T,gaC/gaT,LOW,COSM148765(1),0.347444,0.3571,rs397977,,,,,,chr19,56539240,56539240,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp547Asp/c.1641C>T|1200|NLRP5|protein_coding|CODING|NM_153447.4|7|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.4877,0.4366,0.4235,0.36,0.19,0.45,,,,,,,,,,,,,,,,
missense_variant,NLRP5,MISSENSE,NM_153447.4:p.Arg761Leu/c.2282G>T,cGg/cTg,MODERATE,,0.0133786,0,rs17713875,0.28(T),0.018(B),0.995(L),-0.7694(T),,chr19,56543982,56543982,G,T,het,missense_variant(MODERATE|MISSENSE|cGg/cTg|p.Arg761Leu/c.2282G>T|1200|NLRP5|protein_coding|CODING|NM_153447.4|8|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0041,0.0202,0.0477,0.03,0.01,0.03,,0.384938(N),1.000(N),-2.4(D),0.1196(T),0.048,0.347609,3.68,-7.36,-0.858000,-2.119000,-0.931000,0.000000,0.000000,0.000000,3.4915
missense_variant,NLRP5,MISSENSE,NM_153447.4:p.Met912Thr/c.2735T>C,aTg/aCg,MODERATE,COSM3927750(2),0.264976,0.3006,rs16986899,0.22(T),0.0(B),-0.6(N),-0.9547(T),,chr19,56549510,56549510,T,C,het,missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met912Thr/c.2735T>C|1200|NLRP5|protein_coding|CODING|NM_153447.4|10|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1472,0.1398,0.1889,0.24,0.39,0.17,,0.822221(N),1.000(P),0.69(T),0.0000(T),0.013,-0.787261,3.59,-3.09,-1.292000,-1.137000,-0.013000,0.001000,0.000000,0.000000,2.2949
synonymous_variant,NLRP5,SILENT,NM_153447.4:p.Arg919Arg/c.2757A>G,agA/agG,LOW,COSM148767(1),0.303115,0.3016,rs306447,,,,,,chr19,56549532,56549532,A,G,het,synonymous_variant(LOW|SILENT|agA/agG|p.Arg919Arg/c.2757A>G|1200|NLRP5|protein_coding|CODING|NM_153447.4|10|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,H1ESC:H3K9me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2157,0.1758,0.2406,0.29,0.42,0.22,,,,,,,,,,,,,,,,
missense_variant,NLRP5,MISSENSE,NM_153447.4:p.Ala1097Thr/c.3289G>A,Gcg/Acg,MODERATE,,0.897364,0.7877,rs3103057,0.26(T),0.0(B),-0.55(N),-0.9622(T),,chr19,56565164,56565164,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala1097Thr/c.3289G>A|1200|NLRP5|protein_coding|CODING|NM_153447.4|13|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.9049,0.9755,0.9821,0.95,0.90,0.98,,0.131936(N),1.000(P),0.73(T),0.0000(T),0.009,0.469301,3.55,-1.69,-0.361000,-0.797000,-0.247000,0.001000,0.000000,0.003000,8.3296
missense_variant,NLRP5,MISSENSE,NM_153447.4:p.Val1181Ile/c.3541G>A,Gtc/Atc,MODERATE,COSM4000987(1),0.358826,0.4415,rs10409555,0.71(T),0.0(B),0.84(L),-1.0973(T),,chr19,56572832,56572832,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1181Ile/c.3541G>A|1200|NLRP5|protein_coding|CODING|NM_153447.4|15|1),"GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3262,0.2277,0.2575,0.31,0.43,0.26,,,1.000(P),-0.65(T),0.0000(T),0.023,-1.828455,3.33,-6.66,-3.614000,-4.845000,-1.531000,0.000000,0.000000,0.000000,8.169
missense_variant,ZNF787,MISSENSE,NM_001002836.3:p.Gly379Ala/c.1136G>C,gGt/gCt,MODERATE,COSM3749563(7),0.678514,0.7113,rs4077285,0.02(D),,0.345(N),-1.0970(T),,chr19,56599405,56599405,C,G,het,missense_variant(MODERATE|MISSENSE|gGt/gCt|p.Gly379Ala/c.1136G>C|383|ZNF787|protein_coding|CODING|NM_001002836.3|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.955,0.6254,0.8996,,,,,,1.000(P),3.13(T),0.0000(T),0.16,-0.466969,2.52,0.135,-1.512000,-0.140000,-0.261000,0.122000,0.094000,0.000000,10.1479
missense_variant,ZSCAN5B,MISSENSE,NM_001080456.2:p.Val208Ile/c.622G>A,Gta/Ata,MODERATE,,0.483027,0.4067,rs41429651,0.26(T),0.0(B),-0.29(N),-1.0398(T),,chr19,56702323,56702323,C,T,het,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val208Ile/c.622G>A|495|ZSCAN5B|protein_coding|CODING|NM_001080456.2|3|1),"GM06990:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.363,0.4294,0.3767,0.47,0.68,0.37,,,1.000(P),3.4(T),0.0000(T),0.013,-0.594838,1.3,-2.6,-1.028000,-2.131000,-0.563000,0.002000,0.000000,0.000000,4.4466
missense_variant,ZSCAN5B,MISSENSE,NM_001080456.2:p.Pro187Ser/c.559C>T,Ccc/Tcc,MODERATE,COSM3757295(3),0.246006,0.2798,rs527025,0.25(T),0.996(D),2.595(M),-1.0284(T),,chr19,56703248,56703248,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro187Ser/c.559C>T|495|ZSCAN5B|protein_coding|CODING|NM_001080456.2|2|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2638,0.2032,0.2932,0.28,0.20,0.31,,,1.000(P),3.3(T),0.0000(T),0.046,1.762444,1.9,-2.51,0.306000,-0.516000,-0.393000,0.041000,0.000000,0.001000,3.8942
synonymous_variant,ZSCAN5B,SILENT,NM_001080456.2:p.Asn107Asn/c.321C>T,aaC/aaT,LOW,COSM4000994(1),0.211661,0.2798,rs11084427,,,,,,chr19,56704101,56704101,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn107Asn/c.321C>T|495|ZSCAN5B|protein_coding|CODING|NM_001080456.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.2597,0.1988,0.2942,0.24,0.10,0.31,,,,,,,,,,,,,,,,
missense_variant,ZSCAN5A,MISSENSE,NM_024303.1:p.Gly337Val/c.1010G>T,gGc/gTc,MODERATE,COSM148772(2),0.160144,0.1806,rs34187696,0.33(T),"0.881,0.834(P,P)",2.34(M),-0.9760(T),,chr19,56733425,56733425,C,A,het,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly337Val/c.1010G>T|496|ZSCAN5A|protein_coding|CODING|NM_024303.1|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1738,0.1542,0.2813,0.22,0.08,0.29,,,1.000(P),"3.16,3.12(T,T)",0.0000(T),0.047,2.151177,2.05,0.561,0.561000,0.181000,-0.082000,0.007000,0.000000,0.007000,5.3761
synonymous_variant,ZNF583,SILENT,NM_001159860.1:p.Ala500Ala/c.1500A>G,gcA/gcG,LOW,,0.645966,0.873,rs3810340,,,,,,chr19,56935527,56935527,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala500Ala/c.1500A>G|569|ZNF583|protein_coding|CODING|NM_001159860.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala500Ala/c.1500A>G|569|ZNF583|protein_coding|CODING|NM_001159861.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala500Ala/c.1500A>G|569|ZNF583|protein_coding|CODING|NM_152478.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:ZNF274,NHEK:H3K36me3,CD4:H4K20me3",,,,0.6564,0.6282,0.5119,0.54,0.56,0.52,,,,,,,,,,,,,,,,
missense_variant,ZNF667,MISSENSE,NM_022103.3:p.Lys260Arg/c.779A>G,aAa/aGa,MODERATE,,0.635184,0.874,rs3760849,0.02(D),"0.219,0.105(B,B)",1.845(L),-1.0636(T),,chr19,56953585,56953585,T,C,het,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys260Arg/c.779A>G|610|ZNF667|protein_coding|CODING|NM_022103.3|5|1),non_coding_exon_variant(MODIFIER|||n.1570A>G||ZNF667||CODING|NR_030740.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.6605,0.6254,0.5169,0.52,0.52,0.52,,0.006374(N),0.941(P),"0.36,0.36,0.36(T,T,T)",0.0000(T),0.112,0.781707,5.05,2.87,0.482000,0.346000,3.228000,0.004000,0.028000,0.604000,6.3787
synonymous_variant,ZNF667,SILENT,NM_022103.3:p.Thr167Thr/c.501A>G,acA/acG,LOW,,0.986022,1,rs8107758,,,,,,chr19,56953863,56953863,T,C,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr167Thr/c.501A>G|610|ZNF667|protein_coding|CODING|NM_022103.3|5|1),non_coding_exon_variant(MODIFIER|||n.1292A>G||ZNF667||CODING|NR_030740.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.998,0.9654,0.9612,0.97,0.99,0.96,,,,,,,,,,,,,,,,
missense_variant,ZNF667,MISSENSE,NM_022103.3:p.Pro134Leu/c.401C>T,cCt/cTt,MODERATE,COSM4154373(1),0.306709,0.126,rs35914474,0.02(D),"0.001,0.001(B,B)",0.69(N),-0.9025(T),,chr19,56953963,56953963,G,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro134Leu/c.401C>T|610|ZNF667|protein_coding|CODING|NM_022103.3|5|1),non_coding_exon_variant(MODIFIER|||n.1192C>T||ZNF667||CODING|NR_030740.1|7|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3354,0.353,0.4662,0.41,0.30,0.47,,0.161776(N),1.000(P),"3.35,3.43,3.43(T,T,T)",0.0000(T),0.049,0.205925,4.98,-2.34,0.585000,-0.043000,-0.079000,0.001000,0.000000,0.007000,3.4388
missense_variant,ZNF471,MISSENSE,NM_020813.2:p.Met192Ile/c.576G>T,atG/atT,MODERATE,,0.183706,0.0526,rs11667052,0.38(T),0.001(B),-1.545(N),-0.9208(T),,chr19,57036012,57036012,G,T,het,missense_variant(MODERATE|MISSENSE|atG/atT|p.Met192Ile/c.576G>T|626|ZNF471|protein_coding|CODING|NM_020813.2|5|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H4K20me3",,,,0.182,0.1398,0.2813,0.24,0.23,0.25,,,1.000(P),2.5(T),0.0000(T),0.066,-0.607754,3.87,1.71,-0.253000,0.427000,.,0.789000,0.001000,.,6.9352
missense_variant,ZNF471,MISSENSE,NM_020813.2:p.Gly406Asp/c.1217G>A,gGt/gAt,MODERATE,COSM3757297(1),0.38139,0.2292,rs3752176,0.18(T),0.001(B),-0.47(N),-0.9473(T),,chr19,57036653,57036653,G,A,het,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly406Asp/c.1217G>A|626|ZNF471|protein_coding|CODING|NM_020813.2|5|1),"HSMM:H3K36me3,IMR90:H3K36me3,CD4:H4K20me3",,,,0.4059,0.3213,0.4891,0.47,0.46,0.47,,,1.000(P),3.21(T),0.0000(T),0.031,0.372926,3.35,3.35,-0.521000,0.388000,-1.550000,0.790000,0.706000,0.000000,3.2288
missense_variant,ZFP28,MISSENSE,NM_020828.1:p.Ala43Gly/c.128C>G,gCc/gGc,MODERATE,COSM440426(5),0.420927,0.625,rs7258088,0.5(T),"0.002,0.008(B,B)",0.55(N),-1.0312(T),,chr19,57050515,57050515,C,G,het,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala43Gly/c.128C>G|868|ZFP28|protein_coding|CODING|NM_020828.1|1|1),"NHEK:H3K9ac,HSMM:H2AZ,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H4K20me3,NHEK:H3K4me2,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.362,0.3573,0.2654,0.27,0.36,0.22,,0.471850(N),1.000(P),3.41(T),0.0000(T),0.061,1.514162,2.51,-1.5,-0.502000,-0.198000,0.096000,0.663000,0.013000,0.002000,5.6932
missense_variant,ZFP28,MISSENSE,NM_020828.1:p.Ala620Val/c.1859C>T,gCg/gTg,MODERATE,COSM148775(2),0.408946,0.2986,rs10409531,0.13(T),0.133(B),0.535(N),-1.0103(T),,chr19,57066013,57066013,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala620Val/c.1859C>T|868|ZFP28|protein_coding|CODING|NM_020828.1|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.4049,0.304,0.3509,0.41,0.55,0.33,,0.042507(N),1.000(P),3.17(T),0.0000(T),0.071,1.566773,4.23,0.896,-0.235000,0.536000,-1.939000,0.984000,0.988000,0.000000,6.5728
missense_variant,ZNF470,MISSENSE,NM_001001668.3:p.Val23Leu/c.67G>C,Gtg/Ctg,MODERATE,COSM148776(3),0.423922,0.2788,rs10421285,0.41(T),0.001(B),1.685(L),-0.9946(T),,chr19,57085769,57085769,G,C,het,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val23Leu/c.67G>C|717|ZNF470|protein_coding|CODING|NM_001001668.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.365,0.3357,0.3698,0.45,0.61,0.36,,,1.000(P),"3.54,3.54(T,T)",0.0000(T),0.054,0.672565,3.58,-3.06,-0.182000,-0.621000,0.740000,0.830000,0.034000,0.661000,4.4059
synonymous_variant,ZNF470,SILENT,NM_001001668.3:p.Asp351Asp/c.1053T>C,gaT/gaC,LOW,COSM3757300(1),0.290535,0.379,rs3752180,,,,,,chr19,57088850,57088850,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp351Asp/c.1053T>C|717|ZNF470|protein_coding|CODING|NM_001001668.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.274,0.3401,0.3867,0.31,0.18,0.37,,,,,,,,,,,,,,,,
missense_variant,ZNF470,MISSENSE,NM_001001668.3:p.Thr418Ile/c.1253C>T,aCt/aTt,MODERATE,COSM1180616(1),0.772165,0.6815,rs4801177,1(T),0.0(B),0.045(N),-0.9626(T),,chr19,57089050,57089050,C,T,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr418Ile/c.1253C>T|717|ZNF470|protein_coding|CODING|NM_001001668.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.6912,0.696,0.7584,0.80,0.93,0.74,,,1.000(P),"2.66,2.66(T,T)",0.0000(T),0.035,-2.258914,4.26,4.26,-0.269000,0.686000,-0.120000,0.239000,0.990000,0.000000,8.9352
synonymous_variant,ZNF470,SILENT,NM_001001668.3:p.Gln526Gln/c.1578A>G,caA/caG,LOW,COSM3757301(1),0.153554,0.0605,rs4570977,,,,,,chr19,57089375,57089375,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln526Gln/c.1578A>G|717|ZNF470|protein_coding|CODING|NM_001001668.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.2025,0.1484,0.2932,0.22,0.10,0.28,,,,,,,,,,,,,,,,
missense_variant,ZNF835,MISSENSE,NM_001005850.2:p.Gly330Asp/c.989G>A,gGc/gAc,MODERATE,,0.119409,0.1667,rs12610410,0.02(D),0.997(D),1.99(M),-1.0662(T),,chr19,57175578,57175578,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly330Asp/c.989G>A|537|ZNF835|protein_coding|CODING|NM_001005850.2|2|1),,,,,0.1544,0.0692,0.1223,0.11,0.07,0.14,,,0.324(P),1.72(T),0.0005(T),0.329,4.123991,2.12,2.12,0.561000,1.502000,4.604000,0.279000,0.003000,0.926000,11.9519
missense_variant,ZNF835,MISSENSE,NM_001005850.2:p.Ala223Thr/c.667G>A,Gcg/Acg,MODERATE,,,,,0.03(D),0.504(P),0.385(N),-1.0767(T),,chr19,57175900,57175900,C,T,het,missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala223Thr/c.667G>A|537|ZNF835|protein_coding|CODING|NM_001005850.2|2|1),CD4:H4K20me3,,,,,,,,,,,,1.000(N),1.28(T),0.0545(T),0.198,2.207977,2.12,2.12,0.561000,1.506000,-0.188000,0.408000,0.003000,0.070000,4.6852
synonymous_variant,ZIM2,SILENT,NM_001146326.1:p.Ser191Ser/c.573T>C,agT/agC,LOW,COSM4000997(1),0.747204,0.6627,rs2286751,,,,,,chr19,57293394,57293394,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser191Ser/c.573T>C|527|ZIM2|protein_coding|CODING|NM_001146326.1|10|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser191Ser/c.573T>C|527|ZIM2|protein_coding|CODING|NM_001146327.1|10|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser191Ser/c.573T>C|527|ZIM2|protein_coding|CODING|NM_015363.4|9|1),intron_variant(MODIFIER|||n.94-7902A>G||LOC101929059||NON_CODING|NR_110744.1|1|1)",HepG2:H3K36me3,,,,0.864,0.8026,0.7624,0.77,0.71,0.80,,,,,,,,,,,,,,,,
synonymous_variant,PEG3,SILENT,NM_001146184.1:p.Ser1290Ser/c.3870T>A,tcT/tcA,LOW,,0.000998403,0,rs34731776,,,,,,chr19,57325940,57325940,A,T,het,"synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser1290Ser/c.3870T>A|1588|PEG3|protein_coding|CODING|NM_001146184.1|9|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser1164Ser/c.3492T>A|1462|PEG3|protein_coding|CODING|NM_001146185.1|9|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser1290Ser/c.3870T>A|1588|PEG3|protein_coding|CODING|NM_001146186.1|7|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser1166Ser/c.3498T>A|1464|PEG3|protein_coding|CODING|NM_001146187.1|9|1),synonymous_variant(LOW|SILENT|tcT/tcA|p.Ser1290Ser/c.3870T>A|1588|PEG3|protein_coding|CODING|NM_006210.2|10|1),downstream_gene_variant(MODIFIER||779|||PEG3-AS1||NON_CODING|NR_023847.2||1),intron_variant(MODIFIER|||c.397+4028T>A|527|ZIM2|protein_coding|CODING|NM_001146326.1|8|1),intron_variant(MODIFIER|||c.397+4028T>A|527|ZIM2|protein_coding|CODING|NM_001146327.1|8|1),intron_variant(MODIFIER|||c.397+4028T>A|527|ZIM2|protein_coding|CODING|NM_015363.4|7|1)","HepG2:PolII,HepG2:FOSL2,HepG2:H3K36me3",,,,0.001,0.0043,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,PEG3,MISSENSE,NM_001146184.1:p.Asn947Ser/c.2840A>G,aAt/aGt,MODERATE,,0.0159744,0.001,rs35851866,0.45(T),"0.006,0.096,0.15(B,B,B)",1.67(L),-0.9779(T),,chr19,57326970,57326970,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn947Ser/c.2840A>G|1588|PEG3|protein_coding|CODING|NM_001146184.1|9|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn821Ser/c.2462A>G|1462|PEG3|protein_coding|CODING|NM_001146185.1|9|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn947Ser/c.2840A>G|1588|PEG3|protein_coding|CODING|NM_001146186.1|7|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn823Ser/c.2468A>G|1464|PEG3|protein_coding|CODING|NM_001146187.1|9|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn947Ser/c.2840A>G|1588|PEG3|protein_coding|CODING|NM_006210.2|10|1),downstream_gene_variant(MODIFIER||1809|||PEG3-AS1||NON_CODING|NR_023847.2||1),intron_variant(MODIFIER|||c.397+2998A>G|527|ZIM2|protein_coding|CODING|NM_001146326.1|8|1),intron_variant(MODIFIER|||c.397+2998A>G|527|ZIM2|protein_coding|CODING|NM_001146327.1|8|1),intron_variant(MODIFIER|||c.397+2998A>G|527|ZIM2|protein_coding|CODING|NM_015363.4|7|1)","HepG2:PolII,H1ESC:H3K9me3,HepG2:FOSL2,HepG2:H3K36me3",,,,0.0102,0.0331,0.0447,0.03,0.01,0.04,,0.315480(N),,"4.26,4.26(T,T)",0.0021(T),0.011,-0.440172,3.79,1.46,0.533000,0.248000,-0.293000,0.445000,0.013000,0.000000,3.2161
synonymous_variant,PEG3,SILENT,NM_001146184.1:p.Tyr769Tyr/c.2307T>C,taT/taC,LOW,COSM4000998(1),0.200879,0.1062,rs33931963,,,,,,chr19,57327503,57327503,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr769Tyr/c.2307T>C|1588|PEG3|protein_coding|CODING|NM_001146184.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr643Tyr/c.1929T>C|1462|PEG3|protein_coding|CODING|NM_001146185.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr769Tyr/c.2307T>C|1588|PEG3|protein_coding|CODING|NM_001146186.1|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr645Tyr/c.1935T>C|1464|PEG3|protein_coding|CODING|NM_001146187.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr769Tyr/c.2307T>C|1588|PEG3|protein_coding|CODING|NM_006210.2|10|1),intron_variant(MODIFIER|||c.397+2465T>C|527|ZIM2|protein_coding|CODING|NM_001146326.1|8|1),intron_variant(MODIFIER|||c.397+2465T>C|527|ZIM2|protein_coding|CODING|NM_001146327.1|8|1),intron_variant(MODIFIER|||c.397+2465T>C|527|ZIM2|protein_coding|CODING|NM_015363.4|7|1)",HepG2:H3K36me3,,,,0.2546,0.2075,0.2565,0.25,0.22,0.26,,,,,,,,,,,,,,,,
missense_variant,USP29,MISSENSE,NM_020903.2:p.Asn368Ser/c.1103A>G,aAc/aGc,MODERATE,,0.742013,0.9276,rs1027392,0.35(T),0.497(P),0.74(N),-0.9458(T),,chr19,57641146,57641146,A,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn368Ser/c.1103A>G|922|USP29|protein_coding|CODING|NM_020903.2|4|1),,,,,0.7055,0.7046,0.6203,0.66,0.74,0.63,,0.029047(N),1.000(P),-0.78(T),0.0000(T),0.007,-1.064192,2.69,-0.648,-1.317000,-0.665000,1.363000,0.002000,0.000000,0.225000,7.1585
synonymous_variant,USP29,SILENT,NM_020903.2:p.Val685Val/c.2055G>A,gtG/gtA,LOW,COSM3757307(1),0.427117,0.3611,rs3764574,,,,,,chr19,57642098,57642098,G,A,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val685Val/c.2055G>A|922|USP29|protein_coding|CODING|NM_020903.2|4|1),HepG2:H3K27me3,,,,0.5613,0.4712,0.5139,0.46,0.33,0.53,,,,,,,,,,,,,,,,
stop_gained,USP29,NONSENSE,NM_020903.2:p.Tyr913*/c.2739C>A,taC/taA,HIGH,,0.952077,1,rs9973206,1(T),,,,,chr19,57642782,57642782,C,A,hom,stop_gained(HIGH|NONSENSE|taC/taA|p.Tyr913*/c.2739C>A|922|USP29|protein_coding|CODING|NM_020903.2|4|1),HepG2:H3K27me3,,,,0.9836,0.9265,0.837,0.88,0.97,0.84,,,0.998(P),,,.,7.164934,2.3,-0.625,-1.534000,-0.616000,0.277000,0.003000,0.000000,0.002000,0.1149
stop_gained,ZIM3,NONSENSE,NM_052882.1:p.Lys438*/c.1312A>T,Aaa/Taa,HIGH,COSM1742498(1),0.00698882,0.001,rs111350153,0.19(T),,,,,chr19,57646393,57646393,T,A,het,stop_gained(HIGH|NONSENSE|Aaa/Taa|p.Lys438*/c.1312A>T|472|ZIM3|protein_coding|CODING|NM_052882.1|5|1),HepG2:H3K27me3,,,,0.0082,0.0058,0.0199,0.02,0.00,0.02,,,1.000(D),,,.,6.389581,2.16,-3.67,0.260000,-1.122000,-1.786000,0.404000,0.000000,0.000000,5.0167
missense_variant,ZIM3,MISSENSE,NM_052882.1:p.Ile379Val/c.1135A>G,Att/Gtt,MODERATE,COSM3757308(1),0.422524,0.3621,rs4801433,0.16(T),0.952(D),0.105(N),-0.9691(T),,chr19,57646570,57646570,T,C,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile379Val/c.1135A>G|472|ZIM3|protein_coding|CODING|NM_052882.1|5|1),HepG2:H3K27me3,,,,0.5624,0.4741,0.5149,0.46,0.31,0.53,,,1.000(P),3.21(T),0.0000(T),0.021,-1.202238,2.71,1.68,0.260000,1.237000,-0.574000,0.471000,0.326000,0.000000,5.6843
synonymous_variant,ZIM3,SILENT,NM_052882.1:p.Asn230Asn/c.690T>C,aaT/aaC,LOW,COSM3757309(2),0.649361,0.7649,rs7251328,,,,,,chr19,57647015,57647015,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn230Asn/c.690T>C|472|ZIM3|protein_coding|CODING|NM_052882.1|5|1),HepG2:H3K27me3,,,,0.6472,0.6225,0.5507,0.59,0.65,0.56,,,,,,,,,,,,,,,,
missense_variant,ZIM3,MISSENSE,NM_052882.1:p.Asn157Asp/c.469A>G,Aat/Gat,MODERATE,COSM1396954(2),0.743211,0.9276,rs7252632,0.04(D),0.0(B),-0.345(N),-0.9024(T),,chr19,57647236,57647236,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn157Asp/c.469A>G|472|ZIM3|protein_coding|CODING|NM_052882.1|5|1),HepG2:H3K27me3,,,,0.7025,0.7046,0.6203,0.67,0.75,0.63,,,1.000(P),3.59(T),0.0000(T),0.003,-2.097396,2.18,-4.36,-2.025000,-5.246000,-2.390000,0.004000,0.000000,0.000000,1.8684
missense_variant,ZIM3,MISSENSE,NM_052882.1:p.Leu69Met/c.205T>A,Ttg/Atg,MODERATE,COSM3757310(2),0.420927,0.3621,rs4801200,1(T),0.198(B),-0.91(N),-0.9375(T),,chr19,57648277,57648277,A,T,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu69Met/c.205T>A|472|ZIM3|protein_coding|CODING|NM_052882.1|4|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.5593,0.4755,0.5099,0.46,0.31,0.53,,,1.000(P),3.57(T),0.0000(T),0.028,0.635215,2.32,-4.65,0.260000,-1.311000,-1.600000,0.003000,0.001000,0.000000,3.2755
missense_variant,ZNF264,MISSENSE,NM_003417.4:p.Arg181Thr/c.542G>C,aGa/aCa,MODERATE,,0.621605,0.3125,rs2074858,0.06(T),0.0(B),1.43(L),-1.0741(T),,chr19,57723007,57723007,G,C,hom,missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg181Thr/c.542G>C|627|ZNF264|protein_coding|CODING|NM_003417.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6033,0.6369,0.6481,0.68,0.82,0.60,,,1.000(P),"2.06,2.06(T,T)",0.0000(T),0.038,-0.929639,2.04,0.985,-1.001000,0.034000,-0.779000,0.013000,0.008000,0.003000,4.7159
missense_variant,ZNF264,MISSENSE,NM_003417.4:p.Arg183His/c.548G>A,cGt/cAt,MODERATE,,0.621206,0.3125,rs917340,0.29(T),0.0(B),-1.435(N),-1.0491(T),,chr19,57723013,57723013,G,A,hom,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg183His/c.548G>A|627|ZNF264|protein_coding|CODING|NM_003417.4|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.6012,0.6369,0.6481,0.68,0.82,0.60,,,1.000(P),"2.11,2.11(T,T)",0.0000(T),0.041,-1.921084,1.79,-0.786,-0.381000,-0.873000,-0.941000,0.010000,0.000000,0.002000,2.5508
splice_donor_variant,AURKC,protein_coding,NM_003160.2:c.1C>T,,HIGH,,0.767772,0.8492,rs58264281,,,,,AURKC:0.33(3);,chr19,57742489,57742489,C,T,hom,"splice_donor_variant(HIGH|||c.1C>T|275|AURKC|protein_coding|CODING|NM_003160.2|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||309|AURKC|protein_coding|CODING|NM_001015878.1|1|1),5_prime_UTR_variant(MODIFIER||128|c.-128C>T|309|AURKC|protein_coding|CODING|NM_001015878.1|1|1),intron_variant(MODIFIER|||c.1+7C>T|290|AURKC|protein_coding|CODING|NM_001015879.1|1|1),intron_variant(MODIFIER|||c.-45+2C>T|275|AURKC|protein_coding|CODING|NM_003160.2|1|1)","H1ESC:DNase1,K562:Gabp,K562:E2F6,NHEK:H3K27me3,K562:ELF1",,,,0.8436,0.8184,0.835,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF805,MISSENSE,NM_001023563.3:p.Gly68Glu/c.203G>A,gGg/gAg,MODERATE,,0.368411,0.1815,rs2014572,0.33(T),0.154(B),1.14(L),-1.1832(T),,chr19,57760018,57760018,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly68Glu/c.203G>A|627|ZNF805|protein_coding|CODING|NM_001023563.3|3|1),5_prime_UTR_variant(MODIFIER||4569|c.-197G>A|494|ZNF805|protein_coding|CODING|NM_001145078.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",Hyperactive_impulsive_symptoms,,,0.454,0.4496,0.5746,0.44,0.28,0.52,,,1.000(P),5.57(T),0.0000(T),0.015,1.767179,4.67,-0.00356,-1.004000,-0.048000,0.261000,0.029000,0.000000,0.000000,10.9728
missense_variant,ZNF805,MISSENSE,NM_001023563.3:p.Gly81Asp/c.242G>A,gGc/gAc,MODERATE,COSM3757312(1),0.366613,0.1687,rs3746231,0.37(T),0.001(B),0.93(L),-0.9430(T),,chr19,57760057,57760057,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly81Asp/c.242G>A|627|ZNF805|protein_coding|CODING|NM_001023563.3|3|1),5_prime_UTR_variant(MODIFIER||4530|c.-158G>A|494|ZNF805|protein_coding|CODING|NM_001145078.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4571,0.4496,0.5746,0.44,0.28,0.52,,,1.000(P),2.02(T),0.0000(T),0.046,-0.223725,4.67,2.54,-0.797000,0.214000,0.190000,0.093000,0.000000,0.000000,8.8209
missense_variant,ZNF805,MISSENSE,NM_001023563.3:p.Val195Ile/c.583G>A,Gtt/Att,MODERATE,COSM3757313(1),0.365615,0.1766,rs10421632,0.06(T),0.008(B),-0.12(N),-0.9375(T),,chr19,57764770,57764770,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val195Ile/c.583G>A|627|ZNF805|protein_coding|CODING|NM_001023563.3|4|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val62Ile/c.184G>A|494|ZNF805|protein_coding|CODING|NM_001145078.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.454,0.4481,0.5746,0.44,0.27,0.52,,,1.000(P),"3.31,3.47,3.31(T,T,T)",0.0000(T),0.033,0.474080,4.35,-8.7,-2.384000,-3.127000,-2.992000,0.000000,0.000000,0.000000,2.344
synonymous_variant,ZNF805,SILENT,NM_001023563.3:p.Lys415Lys/c.1245A>G,aaA/aaG,LOW,COSM3757314(2),0.367013,0.1776,rs8100154,,,,,,chr19,57765432,57765432,A,G,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys415Lys/c.1245A>G|627|ZNF805|protein_coding|CODING|NM_001023563.3|4|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys282Lys/c.846A>G|494|ZNF805|protein_coding|CODING|NM_001145078.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.454,0.4481,0.5746,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF460,SILENT,NM_006635.3:p.Asn299Asn/c.897C>T,aaC/aaT,LOW,,0.184305,0.1657,rs2041109,,,,,,chr19,57802806,57802806,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn299Asn/c.897C>T|562|ZNF460|protein_coding|CODING|NM_006635.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1728,0.3084,0.2515,0.21,0.11,0.26,,,,,,,,,,,,,,,,
synonymous_variant,ZNF460,SILENT,NM_006635.3:p.Lys305Lys/c.915G>A,aaG/aaA,LOW,,0.186302,0.1657,rs2041110,,,,,,chr19,57802824,57802824,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys305Lys/c.915G>A|562|ZNF460|protein_coding|CODING|NM_006635.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1728,0.3084,0.2515,0.21,0.12,0.26,,,,,,,,,,,,,,,,
missense_variant,ZNF543,MISSENSE,NM_213598.3:p.Pro55Ala/c.163C>G,Cca/Gca,MODERATE,,0.452077,0.2798,rs6510057,0.08(T),0.011(B),1.525(L),-1.0414(T),,chr19,57838018,57838018,C,G,hom,missense_variant(MODERATE|MISSENSE|Cca/Gca|p.Pro55Ala/c.163C>G|600|ZNF543|protein_coding|CODING|NM_213598.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3875,0.5043,0.5308,0.55,0.54,0.56,,,1.000(P),5.46(T),0.0000(T),0.095,0.444210,2.4,0.225,0.467000,0.120000,0.584000,0.064000,0.134000,0.001000,4.3985
missense_variant,ZNF543,MISSENSE,NM_213598.3:p.Gln107Arg/c.320A>G,cAa/cGa,MODERATE,COSM1180667(1),0.682508,0.5863,rs8100491,1(T),0.001(B),1.04(L),-0.9444(T),,chr19,57839150,57839150,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln107Arg/c.320A>G|600|ZNF543|protein_coding|CODING|NM_213598.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5992,0.7133,0.7197,0.75,0.75,0.75,,,1.000(P),1.89(T),0.0000(T),0.005,-0.855603,2.87,-5.73,-2.030000,-1.610000,-2.431000,0.001000,0.000000,0.000000,6.0897
missense_variant,ZNF543,MISSENSE,NM_213598.3:p.Leu246His/c.737T>A,cTc/cAc,MODERATE,COSM4001009(1),0.681709,0.5843,rs1968090,0.26(T),0.0(B),2.225(M),-1.0425(T),,chr19,57839567,57839567,T,A,hom,missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu246His/c.737T>A|600|ZNF543|protein_coding|CODING|NM_213598.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5992,0.7133,0.7197,0.75,0.75,0.75,,,1.000(P),1.96(T),0.0000(T),0.085,-1.165669,2.33,2.33,-0.364000,0.328000,-0.576000,0.816000,0.576000,0.000000,7.18
missense_variant,ZNF543,MISSENSE,NM_213598.3:p.Met573Val/c.1717A>G,Atg/Gtg,MODERATE,COSM3757323(1),0.197484,0.0317,rs10410649,0.07(T),0.0(B),-0.345(N),-0.9107(T),,chr19,57840547,57840547,A,G,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met573Val/c.1717A>G|600|ZNF543|protein_coding|CODING|NM_213598.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.1816,0.2843,0.28,0.31,0.27,,,1.000(P),3.43(T),0.0000(T),0.034,0.080299,2.45,-2.81,0.379000,-0.852000,-0.653000,0.016000,0.000000,0.000000,5.4467
synonymous_variant,ZNF304,SILENT,NM_001290318.1:p.Leu30Leu/c.90C>T,ctC/ctT,LOW,COSM3757324(1),0.214856,0.2768,rs862704,,,,,,chr19,57865149,57865149,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu30Leu/c.90C>T|706|ZNF304|protein_coding|CODING|NM_001290318.1|2|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu30Leu/c.90C>T|659|ZNF304|protein_coding|CODING|NM_020657.3|2|1),5_prime_UTR_variant(MODIFIER||37|c.-37C>T|617|ZNF304|protein_coding|CODING|NM_001290319.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2301,0.1628,0.171,0.18,0.21,0.17,,,,,,,,,,,,,,,,
missense_variant,ZNF304,MISSENSE,NM_001290318.1:p.Lys414Glu/c.1240A>G,Aaa/Gaa,MODERATE,,0.991214,0.9891,rs862709,1(T),"0.0,0.0(B,B)",0.24(N),-0.9441(T),,chr19,57868336,57868336,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys414Glu/c.1240A>G|706|ZNF304|protein_coding|CODING|NM_001290318.1|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys325Glu/c.973A>G|617|ZNF304|protein_coding|CODING|NM_001290319.1|4|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys367Glu/c.1099A>G|659|ZNF304|protein_coding|CODING|NM_020657.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9918,0.9957,0.9791,0.99,1.00,0.98,,,1.000(P),"2.19,2.19,5.66(T,T,T)",0.0000(T),0.107,-1.467324,3.8,1.48,-0.197000,0.161000,0.925000,0.716000,0.004000,0.003000,8.3791
synonymous_variant,ZNF304,SILENT,NM_001290318.1:p.Leu595Leu/c.1783T>C,Ttg/Ctg,LOW,COSM3757326(1),0.140176,0.0784,rs34411126,,,,,,chr19,57868879,57868879,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu595Leu/c.1783T>C|706|ZNF304|protein_coding|CODING|NM_001290318.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu506Leu/c.1516T>C|617|ZNF304|protein_coding|CODING|NM_001290319.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu548Leu/c.1642T>C|659|ZNF304|protein_coding|CODING|NM_020657.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1748,0.0735,0.1362,0.16,0.19,0.14,,,,,,,,,,,,,,,,
missense_variant,ZNF548,MISSENSE,NM_001172773.1:p.Ala70Ser/c.208G>T,Gca/Tca,MODERATE,COSM3757328(2),0.0884585,0.0784,rs17856896,0.66(T),"0.104,0.048(B,B)",0.175(N),-0.9918(T),,chr19,57909827,57909827,G,T,het,"missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala70Ser/c.208G>T|545|ZNF548|protein_coding|CODING|NM_001172773.1|4|1),missense_variant(MODERATE|MISSENSE|Gca/Tca|p.Ala58Ser/c.172G>T|533|ZNF548|protein_coding|CODING|NM_152909.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1769,0.0663,0.1302,0.10,0.03,0.13,,,1.000(P),"5.79,5.79(T,T)",0.0000(T),0.029,3.043681,3.08,-1.9,-0.515000,-0.177000,-0.034000,0.432000,0.000000,0.000000,3.9551
missense_variant,ZNF548,MISSENSE,NM_001172773.1:p.Ala85Thr/c.253G>A,Gct/Act,MODERATE,,0.910343,0.8026,rs4801478,1(T),"0.0,0.0(B,B)",-0.97(N),-1.0201(T),,chr19,57909872,57909872,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala85Thr/c.253G>A|545|ZNF548|protein_coding|CODING|NM_001172773.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala73Thr/c.217G>A|533|ZNF548|protein_coding|CODING|NM_152909.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9458,0.889,0.9334,0.95,0.97,0.94,,,1.000(P),"3.5,3.48(T,T)",0.0000(T),0.004,-1.238554,3.25,1.14,-0.550000,0.057000,-0.565000,0.001000,0.000000,0.000000,6.5194
synonymous_variant,ZNF17,SILENT,NM_006959.2:p.Ser231Ser/c.693C>T,tcC/tcT,LOW,COSM3757329(2),0.226238,0.0794,rs10417533,,,,,,chr19,57931553,57931553,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser231Ser/c.693C>T|662|ZNF17|protein_coding|CODING|NM_006959.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1789,0.2176,0.2694,0.27,0.30,0.25,,,,,,,,,,,,,,,,
missense_variant,ZNF749,MISSENSE,NM_001023561.2:p.Gln243Arg/c.728A>G,cAg/cGg,MODERATE,,0.199281,0.0913,rs12986235,0.18(T),0.012(B),1.705(L),-0.9602(T),,chr19,57955244,57955244,A,G,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln243Arg/c.728A>G|778|ZNF749|protein_coding|CODING|NM_001023561.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1646,0.1931,0.2883,0.26,0.24,0.27,,,1.000(P),2.36(T),0.0000(T),0.03,2.333168,2.27,-0.122,0.254000,-0.268000,-0.861000,0.338000,0.012000,0.000000,2.7912
missense_variant,ZNF772,MISSENSE,NM_001024596.2:p.Met218Leu/c.652A>T,Atg/Ttg,MODERATE,COSM3757332(1),0.676518,0.7014,rs2074059,0.02(D),"0.0,0.0,0.0(B,B,B)",-0.66(N),-1.0393(T),,chr19,57985460,57985460,T,A,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met218Leu/c.652A>T|489|ZNF772|protein_coding|CODING|NM_001024596.2|5|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met177Leu/c.529A>T|448|ZNF772|protein_coding|CODING|NM_001144068.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7464,0.7176,0.6392,0.63,0.62,0.63,,,1.000(P),"3.58,3.45,3.54(T,T,T)",0.0000(T),0.041,1.123935,3.79,1.63,-0.496000,-0.101000,0.073000,0.009000,0.000000,0.000000,0.4889
missense_variant,ZNF772,MISSENSE,NM_001024596.2:p.Cys182Trp/c.546C>G,tgC/tgG,MODERATE,COSM3757333(1),0.676917,0.7014,rs2074060,0.22(T),"0.0,0.0,0.0(B,B,B)",0.805(L),-1.0047(T),,chr19,57985566,57985566,G,C,het,"missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys182Trp/c.546C>G|489|ZNF772|protein_coding|CODING|NM_001024596.2|5|1),missense_variant(MODERATE|MISSENSE|tgC/tgG|p.Cys141Trp/c.423C>G|448|ZNF772|protein_coding|CODING|NM_001144068.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.7464,0.719,0.6392,0.63,0.61,0.63,,,1.000(P),"3.18,3.18,3.18(T,T,T)",0.0000(T),0.099,-2.310840,3.99,-1.09,-0.322000,0.038000,-1.716000,0.518000,0.018000,0.000000,1.1261
splice_donor_variant,ZNF419,protein_coding,NM_001098491.1:c.302A>G,,HIGH,COSM3757335(1),0.695487,0.6984,rs2074071,,,,,ZNF419:0.50(10);,chr19,58003580,58003580,A,G,het,"splice_donor_variant(HIGH|||c.302A>G|511|ZNF419|protein_coding|CODING|NM_001098491.1|4|1),splice_donor_variant(HIGH|||c.263A>G|498|ZNF419|protein_coding|CODING|NM_001098492.1|3|1),splice_donor_variant(HIGH|||c.260A>G|497|ZNF419|protein_coding|CODING|NM_001098493.1|3|1),splice_donor_variant(HIGH|||c.263A>G|116|ZNF419|protein_coding|CODING|NM_001291745.1|3|1),splice_donor_variant(HIGH|||c.299A>G|510|ZNF419|protein_coding|CODING|NM_024691.3|4|1),intron_variant(MODIFIER|||c.202+615A>G|478|ZNF419|protein_coding|CODING|NM_001098494.1|3|1),intron_variant(MODIFIER|||c.163+615A>G|465|ZNF419|protein_coding|CODING|NM_001098495.1|2|1),intron_variant(MODIFIER|||c.160+615A>G|464|ZNF419|protein_coding|CODING|NM_001098496.1|2|1),intron_variant(MODIFIER|||c.199+615A>G|477|ZNF419|protein_coding|CODING|NM_001291743.1|3|1),intron_variant(MODIFIER|||c.34+615A>G|422|ZNF419|protein_coding|CODING|NM_001291744.1|3|1),intron_variant(MODIFIER|||c.301+1A>G|511|ZNF419|protein_coding|CODING|NM_001098491.1|4|1),intron_variant(MODIFIER|||c.262+1A>G|498|ZNF419|protein_coding|CODING|NM_001098492.1|3|1),intron_variant(MODIFIER|||c.259+1A>G|497|ZNF419|protein_coding|CODING|NM_001098493.1|3|1),intron_variant(MODIFIER|||c.298+1A>G|510|ZNF419|protein_coding|CODING|NM_024691.3|4|1),intron_variant(MODIFIER|||c.262+1A>G|116|ZNF419|protein_coding|CODING|NM_001291745.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8405,0.7262,0.6839,0.66,0.60,0.69,,,0.999(P),,,.,0.062814,2.05,0.994,-0.479000,0.023000,0.110000,0.004000,0.002000,0.004000,4.4421
missense_variant,ZNF419,MISSENSE,NM_001098491.1:p.Glu142Gln/c.424G>C,Gag/Cag,MODERATE,COSM3757338(1),0.695687,0.6984,rs2074076,0.42(T),"0.099,0.002,0.003,0.356,0.463,0.001(B,B,B,B,P,B)",1.09(L),-1.0697(T),,chr19,58004346,58004346,G,C,het,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu142Gln/c.424G>C|511|ZNF419|protein_coding|CODING|NM_001098491.1|5|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu129Gln/c.385G>C|498|ZNF419|protein_coding|CODING|NM_001098492.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu128Gln/c.382G>C|497|ZNF419|protein_coding|CODING|NM_001098493.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu109Gln/c.325G>C|478|ZNF419|protein_coding|CODING|NM_001098494.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu96Gln/c.286G>C|465|ZNF419|protein_coding|CODING|NM_001098495.1|3|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu95Gln/c.283G>C|464|ZNF419|protein_coding|CODING|NM_001098496.1|3|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu108Gln/c.322G>C|477|ZNF419|protein_coding|CODING|NM_001291743.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu53Gln/c.157G>C|422|ZNF419|protein_coding|CODING|NM_001291744.1|4|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu141Gln/c.421G>C|510|ZNF419|protein_coding|CODING|NM_024691.3|5|1),intron_variant(MODIFIER|||c.262+767G>C|116|ZNF419|protein_coding|CODING|NM_001291745.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8405,0.7262,0.6839,0.66,0.59,0.69,,,1.000(P),"3.37,3.38,3.32,3.38,3.25,3.25,5.4,3.36,6.97(T,T,T,T,T,T,T,T,T)",0.0000(T),0.103,-0.257605,2.48,0.261,0.205000,0.353000,0.923000,0.319000,0.008000,0.029000,6.0755
missense_variant,ZNF419,MISSENSE,NM_001098491.1:p.Ile337Val/c.1009A>G,Att/Gtt,MODERATE,,0.695487,0.6984,rs2074077,0.4(T),"0.001,0.0,0.0,0.001,0.0,0.001(B,B,B,B,B,B)",0.86(L),-1.1191(T),,chr19,58004931,58004931,A,G,het,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile337Val/c.1009A>G|511|ZNF419|protein_coding|CODING|NM_001098491.1|5|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile324Val/c.970A>G|498|ZNF419|protein_coding|CODING|NM_001098492.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile323Val/c.967A>G|497|ZNF419|protein_coding|CODING|NM_001098493.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile304Val/c.910A>G|478|ZNF419|protein_coding|CODING|NM_001098494.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile291Val/c.871A>G|465|ZNF419|protein_coding|CODING|NM_001098495.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile290Val/c.868A>G|464|ZNF419|protein_coding|CODING|NM_001098496.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile303Val/c.907A>G|477|ZNF419|protein_coding|CODING|NM_001291743.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile248Val/c.742A>G|422|ZNF419|protein_coding|CODING|NM_001291744.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile336Val/c.1006A>G|510|ZNF419|protein_coding|CODING|NM_024691.3|5|1),intron_variant(MODIFIER|||c.263-805A>G|116|ZNF419|protein_coding|CODING|NM_001291745.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.8405,0.7262,0.6839,0.64,0.57,0.68,,,0.287(P),"5.47,5.47,5.47,5.47,5.47,5.47,5.47(T,T,T,T,T,T,T)",0.0000(T),0.156,-1.847078,2.36,-1.18,-0.971000,-0.414000,-0.608000,0.727000,0.578000,0.000000,5.3392
missense_variant,ZNF549,MISSENSE,NM_001199295.1:p.Ile8Asn/c.23T>A,aTt/aAt,MODERATE,COSM3757343(1),0.989617,1,rs12461014,0.5(T),"0.0,0.0(B,B)",0.895(L),-1.0319(T),,chr19,58038964,58038964,T,A,hom,"missense_variant(MODERATE|MISSENSE|aTt/aAt|p.Ile8Asn/c.23T>A|640|ZNF549|protein_coding|CODING|NM_001199295.1|1|1),missense_variant(MODERATE|MISSENSE|aTt/aAt|p.Ile8Asn/c.23T>A|627|ZNF549|protein_coding|CODING|NM_153263.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,HepG2:Gabp,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,CD4:H2BK20ac,HepG2:H3K27ac,H1ESC:DNase1,CD4:H3K4me3,H1ESC:Gabp,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,GM12878:ZEB1,HUVEC:H3K4me2,K562:E2F6,IMR90:H3K27ac,CD4:H3K36ac,GM12878:PolII,HepG2:H3K4me3,CD4:H4K5ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:H2AZ",,,,0.9949,0.9755,0.9702,0.98,0.99,0.97,,,1.000(P),"3.39,3.38(T,T)",0.0000(T),0.1,-0.802155,1.74,0.703,-0.376000,-0.195000,0.436000,0.002000,0.000000,0.002000,1.6462
synonymous_variant,ZNF416,SILENT,NM_017879.1:p.Thr114Thr/c.342C>T,acC/acT,LOW,,0.167532,0.0942,rs3746222,,,,,,chr19,58084930,58084930,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr114Thr/c.342C>T|594|ZNF416|protein_coding|CODING|NM_017879.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K9me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1769,0.1369,0.2078,0.19,0.19,0.19,,,,,,,,,,,,,,,,
missense_variant,ZNF530,MISSENSE,NM_020880.3:p.His110Gln/c.330T>A,caT/caA,MODERATE,COSM3757345(1),0.746605,0.6825,rs2360543,1(T),0.0(B),-1.835(N),-1.0175(T),,chr19,58117223,58117223,T,A,hom,missense_variant(MODERATE|MISSENSE|caT/caA|p.His110Gln/c.330T>A|599|ZNF530|protein_coding|CODING|NM_020880.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6605,0.6527,0.7932,0.80,0.85,0.77,,,1.000(P),3.65(T),0.0000(T),0.015,-1.979703,1.46,-0.789,-0.444000,-0.852000,-0.591000,0.001000,0.000000,0.000000,2.2127
synonymous_variant,ZNF154,SILENT,NM_001085384.2:p.Arg208Arg/c.624G>A,cgG/cgA,LOW,,0.128794,0.0843,rs61730373,,,,,,chr19,58213693,58213693,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg208Arg/c.624G>A|437|ZNF154|protein_coding|CODING|NM_001085384.2|3|1),non_coding_exon_variant(MODIFIER|||n.864G>A||ZNF154||CODING|NR_110974.1|3|1),non_coding_exon_variant(MODIFIER|||n.864G>A||ZNF154||CODING|NR_110975.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0552,0.111,0.1948,0.16,0.16,0.17,,,,,,,,,,,,,,,,
missense_variant,ZNF154,MISSENSE,NM_001085384.2:p.Leu182Val/c.544C>G,Ctt/Gtt,MODERATE,,0.124201,0.0843,rs2188736,0.28(T),0.0(B),0.015(N),-0.9144(T),,chr19,58213773,58213773,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctt/Gtt|p.Leu182Val/c.544C>G|437|ZNF154|protein_coding|CODING|NM_001085384.2|3|1),non_coding_exon_variant(MODIFIER|||n.784C>G||ZNF154||CODING|NR_110974.1|3|1),non_coding_exon_variant(MODIFIER|||n.784C>G||ZNF154||CODING|NR_110975.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0552,0.111,0.1948,0.16,0.15,0.17,,,1.000(P),"3.21,3.21(T,T)",0.0000(T),0.024,2.178466,2.6,-3.59,-0.216000,-1.235000,-1.922000,0.933000,0.001000,0.000000,6.6787
missense_variant,ZNF671,MISSENSE,NM_024833.2:p.Ala149Val/c.446C>T,gCa/gTa,MODERATE,COSM4001026(1),0.153155,0.0873,rs3746207,0.25(T),0.014(B),0(N),-0.8996(T),,chr19,58233008,58233008,G,A,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala149Val/c.446C>T|534|ZNF671|protein_coding|CODING|NM_024833.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.0552,0.111,0.175,0.19,0.26,0.15,,,1.000(P),"3.46,3.34(T,T)",0.0000(T),0.043,1.157550,1.66,-0.654,0.313000,-0.229000,-2.628000,0.180000,0.015000,0.000000,4.2045
synonymous_variant,ZNF587B,SILENT,NM_001204818.1:p.Arg160Arg/c.480G>A,agG/agA,LOW,COSM3835997(1),0.572883,0.6796,rs12981244,,,,,,chr19,58352522,58352522,G,A,hom,synonymous_variant(LOW|SILENT|agG/agA|p.Arg160Arg/c.480G>A|402|ZNF587B|protein_coding|CODING|NM_001204818.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3569,0.5634,0.4622,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF587B,MISSENSE,NM_001204818.1:p.Val255Ala/c.764T>C,gTt/gCt,MODERATE,,0.132188,0.1925,rs35313547,,"0.001,0.004(B,B)",-0.36(N),-0.9710(T),,chr19,58352806,58352806,T,C,het,missense_variant(MODERATE|MISSENSE|gTt/gCt|p.Val255Ala/c.764T>C|402|ZNF587B|protein_coding|CODING|NM_001204818.1|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.181,0.1398,0.173,,,,,,,2.51(T),0.0000(T),0.054,-1.569397,2.01,-4.03,-1.004000,-2.618000,-1.768000,0.001000,0.000000,0.000000,0.2177
missense_variant,ZNF587,MISSENSE,NM_032828.3:p.Leu316Arg/c.947T>G,cTt/cGt,MODERATE,,0.288538,0.4087,rs77825740,1(T),"0.0,0.0(B,B)",-1.145(N),-0.9449(T),,chr19,58370727,58370727,T,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu315Arg/c.944T>G|574|ZNF587|protein_coding|CODING|NM_001204817.1|3|1),missense_variant(MODERATE|MISSENSE|cTt/cGt|p.Leu316Arg/c.947T>G|575|ZNF587|protein_coding|CODING|NM_032828.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1728,0.3775,0.2803,,,,,,1.000(N),"2.7,2.7,2.7(T,T,T)",0.0000(T),0.102,-2.984521,1.83,0.675,-3.352000,-1.268000,-2.624000,0.004000,0.000000,0.000000,5.2136
synonymous_variant,ZNF417,SILENT,NM_152475.2:p.Gly498Gly/c.1494G>T,ggG/ggT,LOW,COSM148788(1),0.279353,0.2847,rs17845779,,,,,,chr19,58420152,58420152,C,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly497Gly/c.1491G>T|574|ZNF417|protein_coding|CODING|NM_001297734.1|3|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly498Gly/c.1494G>T|575|ZNF417|protein_coding|CODING|NM_152475.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2965,0.2248,0.2992,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF417,MISSENSE,NM_152475.2:p.Asn495Ser/c.1484A>G,aAt/aGt,MODERATE,,0.314696,0.2996,rs10416584,1(T),0.001(B),0.24(N),-0.9453(T),,chr19,58420162,58420162,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn494Ser/c.1481A>G|574|ZNF417|protein_coding|CODING|NM_001297734.1|3|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn495Ser/c.1484A>G|575|ZNF417|protein_coding|CODING|NM_152475.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.32,0.2882,0.3698,0.27,0.22,0.29,,,1.000(P),"3.21,3.21(T,T)",0.0000(T),0.01,-1.120845,2.38,-4.76,-0.665000,-3.048000,-8.711000,0.166000,0.000000,0.000000,1.0708
synonymous_variant,ZNF417,SILENT,NM_152475.2:p.Glu493Glu/c.1479A>G,gaA/gaG,LOW,COSM148789(2),0.246206,0.2847,rs17852300,,,,,,chr19,58420167,58420167,T,C,hom,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu492Glu/c.1476A>G|574|ZNF417|protein_coding|CODING|NM_001297734.1|3|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu493Glu/c.1479A>G|575|ZNF417|protein_coding|CODING|NM_152475.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2975,0.219,0.2972,0.20,0.12,0.23,,,,,,,,,,,,,,,,
missense_variant,ZNF417,MISSENSE,NM_152475.2:p.Arg316Leu/c.947G>T,cGt/cTt,MODERATE,COSM148790(3),0.33746,0.2817,rs3745133,0.02(D),0.236(B),1.86(L),-0.9886(T),,chr19,58420699,58420699,C,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg315Leu/c.944G>T|574|ZNF417|protein_coding|CODING|NM_001297734.1|3|1),missense_variant(MODERATE|MISSENSE|cGt/cTt|p.Arg316Leu/c.947G>T|575|ZNF417|protein_coding|CODING|NM_152475.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3098,0.2911,0.3499,,,,,,1.000(P),"1.82,1.82(T,T)",0.0000(T),0.174,0.881369,2.15,-2.01,-1.050000,-0.691000,-2.414000,0.128000,0.000000,0.000000,7.8865
missense_variant,ZNF417,MISSENSE,NM_152475.2:p.Arg173His/c.518G>A,cGc/cAc,MODERATE,COSM3773917(2),0.328674,0.3631,rs201944488,0.15(T),"0.0,0.0(B,B)",0.385(N),-0.9144(T),,chr19,58421128,58421128,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg172His/c.515G>A|574|ZNF417|protein_coding|CODING|NM_001297734.1|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg173His/c.518G>A|575|ZNF417|protein_coding|CODING|NM_152475.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3722,0.3069,0.3708,0.34,0.25,0.38,,,1.000(P),3.32(T),0.0000(T),0.057,-0.984691,1.86,-3.31,-2.164000,-0.695000,-0.558000,0.001000,0.000000,0.000000,7.2829
synonymous_variant,ZNF256,SILENT,NM_005773.2:p.Gln278Gln/c.834A>G,caA/caG,LOW,,0.266773,0.3145,rs959231,,,,,,chr19,58453342,58453342,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln278Gln/c.834A>G|627|ZNF256|protein_coding|CODING|NM_005773.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.2965,0.3112,0.3002,0.25,0.17,0.30,,,,,,,,,,,,,,,,
synonymous_variant,ZNF256,SILENT,NM_005773.2:p.Glu27Glu/c.81G>A,gaG/gaA,LOW,,0.992612,0.9792,rs257652,,,,,,chr19,58455381,58455381,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu27Glu/c.81G>A|627|ZNF256|protein_coding|CODING|NM_005773.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.987,0.993,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,ZSCAN1,SILENT,NM_182572.3:p.Leu54Leu/c.162C>G,ctC/ctG,LOW,COSM3749569(17),0.642372,0.4345,rs159870,,,,,,chr19,58549366,58549366,C,G,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu54Leu/c.162C>G|408|ZSCAN1|protein_coding|CODING|NM_182572.3|3|1),"H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me3",,,,0.6585,0.7305,0.7346,0.69,0.66,0.71,,,,,,,,,,,,,,,,
synonymous_variant,ZNF135,SILENT,NM_007134.1:p.Thr27Thr/c.81G>A,acG/acA,LOW,COSM3757350(1),0.269768,0.2649,rs2288274,,,,-0.9465(T),,chr19,58572959,58572959,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr27Thr/c.81G>A|123|ZNF135|protein_coding|CODING|NM_001164527.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr27Thr/c.81G>A|115|ZNF135|protein_coding|CODING|NM_001164529.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr27Thr/c.81G>A|390|ZNF135|protein_coding|CODING|NM_001164530.1|2|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr15Thr/c.45G>A|658|ZNF135|protein_coding|CODING|NM_001289401.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr15Thr/c.45G>A|670|ZNF135|protein_coding|CODING|NM_003436.3|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr27Thr/c.81G>A|682|ZNF135|protein_coding|CODING|NM_007134.1|2|1),5_prime_UTR_variant(MODIFIER||82|c.-82G>A|616|ZNF135|protein_coding|CODING|NM_001289402.1|3|1)","H1ESC:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.2526,0.2277,0.2992,0.28,0.29,0.27,,,0.000(P),,0.0000(T),.,0.647440,2.52,-1.02,-1.339000,-0.105000,-2.496000,0.869000,0.950000,0.000000,1.8703
missense_variant,ZNF135,MISSENSE,NM_007134.1:p.Gly34Asp/c.101G>A,gGc/gAc,MODERATE,COSM4132692(1),0.782548,0.4871,rs1469087,,,-2.145(N),-1.0664(T),,chr19,58572979,58572979,G,A,hom,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly34Asp/c.101G>A|123|ZNF135|protein_coding|CODING|NM_001164527.1|2|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly34Asp/c.101G>A|115|ZNF135|protein_coding|CODING|NM_001164529.1|2|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly34Asp/c.101G>A|390|ZNF135|protein_coding|CODING|NM_001164530.1|2|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly22Asp/c.65G>A|658|ZNF135|protein_coding|CODING|NM_001289401.1|3|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly22Asp/c.65G>A|670|ZNF135|protein_coding|CODING|NM_003436.3|3|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly34Asp/c.101G>A|682|ZNF135|protein_coding|CODING|NM_007134.1|2|1),5_prime_UTR_variant(MODIFIER||62|c.-62G>A|616|ZNF135|protein_coding|CODING|NM_001289402.1|3|1)","H1ESC:H3K36me3,CD4:H3K36me3,CD4:H4K20me3",,,,0.7771,0.8184,0.8598,0.88,0.93,0.86,,,0.000(P),,0.0000(T),.,-1.716744,2.52,1.48,-0.516000,0.022000,1.107000,0.536000,0.667000,0.961000,5.8631
synonymous_variant,ZNF135,SILENT,NM_007134.1:p.Tyr266Tyr/c.798C>T,taC/taT,LOW,,0.366813,0.2103,rs2229375,,,,-1.0088(T),,chr19,58578578,58578578,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr254Tyr/c.762C>T|670|ZNF135|protein_coding|CODING|NM_003436.3|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr266Tyr/c.798C>T|682|ZNF135|protein_coding|CODING|NM_007134.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr254Tyr/c.762C>T|390|ZNF135|protein_coding|CODING|NM_001164530.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr242Tyr/c.726C>T|658|ZNF135|protein_coding|CODING|NM_001289401.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr200Tyr/c.600C>T|616|ZNF135|protein_coding|CODING|NM_001289402.1|5|1),3_prime_UTR_variant(MODIFIER||55|c.*55C>T|115|ZNF135|protein_coding|CODING|NM_001164529.1|4|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3",,,,0.4192,0.4798,0.4105,0.38,0.34,0.40,,,1.000(P),,0.0000(T),.,-1.709594,3.52,-7.05,-1.012000,-2.190000,-2.161000,0.008000,0.000000,0.000000,8.0246
missense_variant,ZNF274,MISSENSE,NM_133502.2:p.Val147Ile/c.439G>A,Gtc/Atc,MODERATE,,0.122404,0,rs7256349,0.36(T),"0.015,0.055,0.007(B,B,B)",0(N),-0.9206(T),,chr19,58718269,58718269,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val105Ile/c.313G>A|610|ZNF274|protein_coding|CODING|NM_001278734.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val42Ile/c.124G>A|547|ZNF274|protein_coding|CODING|NM_016324.3|2|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val115Ile/c.343G>A|620|ZNF274|protein_coding|CODING|NM_016325.3|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val147Ile/c.439G>A|652|ZNF274|protein_coding|CODING|NM_133502.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,HeLa-S3:H3K36me3,HeLa-S3:E2F1,GM06990:H3K36me3",,,,0.1595,0.183,0.2843,0.21,0.06,0.28,,0.230683(N),1.000(P),"3.38,3.27,3.31(T,T,T)",0.0000(T),0.027,-0.732191,3.42,-1.71,0.462000,-0.265000,-0.011000,0.008000,0.001000,0.000000,3.7777
missense_variant,ZNF544,MISSENSE,NM_014480.2:p.Gln700Arg/c.2099A>G,cAa/cGa,MODERATE,COSM4001035(1),0.527356,0.5873,rs260462,1(T),"0.0,0.0(B,B)",-0.26(N),-0.9706(T),,chr19,58774071,58774071,A,G,hom,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln700Arg/c.2099A>G|715|ZNF544|protein_coding|CODING|NM_014480.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K9me3,HSMM:H3K36me3,K562:SETDB1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,K562:ZNF274,GM12878:H3K9me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.5225,0.5403,0.5915,0.53,0.47,0.57,,,1.000(P),"1.3,1.3(T,T)",0.0000(T),0.01,-1.486893,3.46,-5.14,-0.213000,-1.370000,-3.353000,0.227000,0.000000,0.000000,10.0317
missense_variant,A1BG,MISSENSE,NM_130786.3:p.His52Arg/c.155A>G,cAc/cGc,MODERATE,COSM3720655(1),0.848442,0.9127,rs386619788,0.79(T),0.003(B),-1.355(N),-0.9901(T),,chr19,58864479,58864479,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His52Arg/c.155A>G|495|A1BG|protein_coding|CODING|NM_130786.3|3|1),downstream_gene_variant(MODIFIER||1244||498|ZNF497|protein_coding|CODING|NM_001207009.1||1),downstream_gene_variant(MODIFIER||1244||498|ZNF497|protein_coding|CODING|NM_198458.2||1),intron_variant(MODIFIER|||n.1075+69T>C||A1BG-AS1||NON_CODING|NR_015380.1|1|1)","HepG2:H3K4me2,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K4me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8528,0.8573,0.9404,0.89,0.77,0.95,,0.005508(N),1.000(P),2.7(T),0.0000(T),0.018,-0.454282,3.32,-5.15,-1.309000,-1.456000,-2.596000,0.014000,0.000000,0.000000,2.5552
missense_variant,ZNF497,MISSENSE,NM_001207009.1:p.His174Gln/c.522C>A,caC/caA,MODERATE,COSM3757356(2),0.382788,0.1825,rs12609654,0.13(T),0.042(B),0.235(N),-0.9157(T),,chr19,58868480,58868480,G,T,het,"missense_variant(MODERATE|MISSENSE|caC/caA|p.His174Gln/c.522C>A|498|ZNF497|protein_coding|CODING|NM_001207009.1|2|1),missense_variant(MODERATE|MISSENSE|caC/caA|p.His174Gln/c.522C>A|498|ZNF497|protein_coding|CODING|NM_198458.2|3|1),downstream_gene_variant(MODIFIER||1931|||A1BG-AS1||NON_CODING|NR_015380.1||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3",,,,0.4376,0.3746,0.4006,0.47,0.50,0.45,,,1.000(P),"1.3,1.3(T,T)",0.0000(T),0.119,2.120431,0.62,-0.577,0.205000,-0.298000,-1.525000,0.420000,0.004000,0.000000,5.7584
synonymous_variant,ZNF837,SILENT,NM_138466.1:p.Ser245Ser/c.735T>C,agT/agC,LOW,COSM3749570(6),0.881589,0.9137,rs7255489,,,,,,chr19,58879965,58879965,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser245Ser/c.735T>C|531|ZNF837|protein_coding|CODING|NM_138466.1|3|1),non_coding_exon_variant(MODIFIER|||n.1058T>C||ZNF837||CODING|NR_049780.1|3|1)",HUVEC:H3K27me3,,,,0.8558,0.8732,0.9294,,,,,,,,,,,,,,,,,,,
missense_variant,ZNF837,MISSENSE,NM_138466.1:p.Ala242Thr/c.724G>A,Gcg/Acg,MODERATE,COSM3749571(14),0.881589,0.9137,rs7255596,1(T),0.0(B),-0.85(N),-1.0177(T),,chr19,58879976,58879976,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala242Thr/c.724G>A|531|ZNF837|protein_coding|CODING|NM_138466.1|3|1),non_coding_exon_variant(MODIFIER|||n.1047G>A||ZNF837||CODING|NR_049780.1|3|1)",HUVEC:H3K27me3,,,,0.8558,0.8732,0.9294,0.93,0.89,0.95,,,1.000(P),3.26(T),0.0000(T),0.009,-1.408572,1.16,-0.744,-0.439000,-0.927000,-2.118000,0.005000,0.001000,0.000000,4.7945
missense_variant,LOC646862,MISSENSE,NM_001195135.1:p.Pro232Ala/c.694C>G,Ccg/Gcg,MODERATE,,0.855032,0.9117,rs13343526,,,,,,chr19,58908150,58908150,C,G,hom,"missense_variant(MODERATE|MISSENSE|Ccg/Gcg|p.Pro232Ala/c.694C>G|329|LOC646862|protein_coding|CODING|NM_001195135.1|1|1),downstream_gene_variant(MODIFIER||1979||204|RPS5|protein_coding|CODING|NM_001009.3||1)","K562:PolII,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,GM12878:PolII,GM06990:H3K36me3",,,,0.7863,0.8429,0.8857,,,,,,,,,,,,,,,,,,,
synonymous_variant,ZNF584,SILENT,NM_173548.1:p.Ala138Ala/c.414A>T,gcA/gcT,LOW,COSM3757361(1),0.129193,0.0546,rs11668757,,,,,,chr19,58928299,58928299,A,T,het,synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala138Ala/c.414A>T|421|ZNF584|protein_coding|CODING|NM_173548.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.1729,0.2495,0.16,0.06,0.21,,,,,,,,,,,,,,,,
synonymous_variant,ZNF584,SILENT,NM_173548.1:p.Ala139Ala/c.417T>C,gcT/gcC,LOW,,0.500599,0.3254,rs10423138,,,,,,chr19,58928302,58928302,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala139Ala/c.417T>C|421|ZNF584|protein_coding|CODING|NM_173548.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3824,0.379,0.497,0.58,0.77,0.48,,,,,,,,,,,,,,,,
missense_variant,ZNF584,MISSENSE,NM_173548.1:p.Pro142Ser/c.424C>T,Cct/Tct,MODERATE,COSM3757362(1),0.15016,0.0546,rs11668789,0.35(T),0.002(B),0.55(N),-0.9153(T),,chr19,58928309,58928309,C,T,het,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro142Ser/c.424C>T|421|ZNF584|protein_coding|CODING|NM_173548.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1718,0.1772,0.2485,0.18,0.12,0.21,,,1.000(P),2.55(T),0.0000(T),0.063,-0.462052,2.96,-0.435,0.462000,0.008000,-1.145000,0.084000,0.000000,0.000000,2.5653
synonymous_variant,ZNF584,SILENT,NM_173548.1:p.Lys389Lys/c.1167G>A,aaG/aaA,LOW,,0.446885,0.3254,rs3764535,,,,,,chr19,58929052,58929052,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys389Lys/c.1167G>A|421|ZNF584|protein_coding|CODING|NM_173548.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3814,0.3573,0.496,0.52,0.59,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ZNF584,SILENT,NM_173548.1:p.Lys417Lys/c.1251G>A,aaG/aaA,LOW,COSM1397324(1),0.500599,0.3254,rs3764534,,,,,,chr19,58929136,58929136,G,A,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys417Lys/c.1251G>A|421|ZNF584|protein_coding|CODING|NM_173548.1|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3824,0.379,0.497,0.58,0.77,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ZNF132,SILENT,NM_003433.3:p.Asn574Asn/c.1722T>C,aaT/aaC,LOW,COSM3757363(1),0.14976,0.0546,rs3764529,,,,,,chr19,58945089,58945089,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn574Asn/c.1722T>C|706|ZNF132|protein_coding|CODING|NM_003433.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K9me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1718,0.1801,0.2445,0.17,0.12,0.20,,,,,,,,,,,,,,,,
synonymous_variant,ZNF132,SILENT,NM_003433.3:p.Lys283Lys/c.849G>A,aaG/aaA,LOW,,0.955671,0.9722,rs9941466,,,,,,chr19,58945962,58945962,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys283Lys/c.849G>A|706|ZNF132|protein_coding|CODING|NM_003433.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.9233,0.9395,0.9284,0.96,0.99,0.94,,,,,,,,,,,,,,,,
missense_variant,ZNF132,MISSENSE,NM_003433.3:p.Pro252Leu/c.755C>T,cCc/cTc,MODERATE,,0.500599,0.3264,rs1465789,0.46(T),0.0(B),-1.545(N),-1.0680(T),,chr19,58946056,58946056,G,A,het,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro252Leu/c.755C>T|706|ZNF132|protein_coding|CODING|NM_003433.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.3824,0.3818,0.494,0.58,0.77,0.48,,,1.000(P),2.58(T),0.0000(T),0.036,-1.387674,3.12,0.98,-1.062000,0.010000,-1.739000,0.024000,0.002000,0.000000,3.7082
missense_variant,ZNF132,MISSENSE,NM_003433.3:p.Gly203Asp/c.608G>A,gGc/gAc,MODERATE,COSM3757364(1),0.146166,0.0546,rs1122955,0.49(T),0.0(B),-0.245(N),-0.9051(T),,chr19,58946203,58946203,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly203Asp/c.608G>A|706|ZNF132|protein_coding|CODING|NM_003433.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K79me3,IMR90:H3K36me3,CD4:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,CD4:H4K20me3,GM06990:H3K36me3",,,,0.1718,0.1772,0.2445,0.17,0.11,0.20,,,1.000(P),2.49(T),0.0000(T),0.054,-1.324593,2.49,0.23,-0.290000,-0.007000,-0.269000,0.001000,0.001000,0.000000,3.7817
missense_variant,ZNF324,MISSENSE,NM_014347.2:p.Arg71Gly/c.211A>G,Agg/Ggg,MODERATE,,0.00179712,0,rs144108577,0.35(T),0.154(B),0.345(N),-0.9659(T),,chr19,58981184,58981184,A,G,het,missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg71Gly/c.211A>G|553|ZNF324|protein_coding|CODING|NM_014347.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0029,0.005,0.00,0.00,0.01,,0.020273(N),1.000(N),"3.3,3.3(T,T)",0.0055(T),0.243,1.477551,4.68,-0.2,-0.441000,0.237000,-0.154000,0.023000,0.059000,0.000000,0.844
synonymous_variant,ZNF324,SILENT,NM_014347.2:p.Arg175Arg/c.525A>G,agA/agG,LOW,,0.999601,0.998,rs10418774,,,,,,chr19,58982384,58982384,A,G,hom,synonymous_variant(LOW|SILENT|agA/agG|p.Arg175Arg/c.525A>G|553|ZNF324|protein_coding|CODING|NM_014347.2|4|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,DEFB125,SILENT,NM_153325.2:p.Ser125Ser/c.375T>C,tcT/tcC,LOW,,0.773363,0.7133,rs6111385,,,,,,chr20,76962,76962,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser125Ser/c.375T>C|156|DEFB125|protein_coding|CODING|NM_153325.2|2|1),HepG2:H3K27me3,,,,0.7219,0.7911,0.8191,0.81,0.82,0.81,,,,,,,,,,,,,,,,
synonymous_variant,DEFB125,SILENT,NM_153325.2:p.Ser142Ser/c.426C>T,tcC/tcT,LOW,,0.00359425,0,rs45528036,,,,,,chr20,77013,77013,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser142Ser/c.426C>T|156|DEFB125|protein_coding|CODING|NM_153325.2|2|1),HepG2:H3K27me3,,,,0.001,0.0043,0.0139,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,DEFB127,MISSENSE,NM_139074.3:p.Gly31Arg/c.91G>A,Gga/Aga,MODERATE,COSM3758443(2),0.324281,0.5446,rs12624954,0.05(D),1.0(D),,-0.9085(T),,chr20,139456,139456,G,A,het,missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly31Arg/c.91G>A|99|DEFB127|protein_coding|CODING|NM_139074.3|2|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.4427,0.3487,0.3419,0.26,0.09,0.35,,0.004506(N),1.000(P),0.01(T),0.0000(T),0.327,1.289992,3.12,3.12,0.305000,2.059000,3.236000,0.028000,0.140000,0.951000,9.9776
missense_variant,DEFB127,MISSENSE,NM_139074.3:p.Arg71Ser/c.211C>A,Cgt/Agt,MODERATE,COSM3758444(2),0.324081,0.5407,rs16995685,0.33(T),0.028(B),,-0.9256(T),,chr20,139576,139576,C,A,het,missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg71Ser/c.211C>A|99|DEFB127|protein_coding|CODING|NM_139074.3|2|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.4448,0.3487,0.3419,0.26,0.09,0.35,,0.656961(N),1.000(P),2.44(T),0.0000(T),0.044,-0.875449,3.26,1.24,-0.657000,0.367000,0.595000,0.001000,0.003000,0.004000,4.0324
missense_variant,DEFB128,MISSENSE,NM_001037732.1:p.Lys27Asn/c.81A>T,aaA/aaT,MODERATE,,0.610423,0.4554,rs4813043,1(T),0.0(B),,-0.9949(T),,chr20,168728,168728,T,A,het,missense_variant(MODERATE|MISSENSE|aaA/aaT|p.Lys27Asn/c.81A>T|93|DEFB128|protein_coding|CODING|NM_001037732.1|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.546,0.5922,0.6093,0.65,0.76,0.59,,0.101604(N),1.000(P),2.78(T),0.0000(T),0.036,-1.321692,4.41,-2.27,-2.177000,-0.792000,-0.829000,0.000000,0.000000,0.000000,2.1075
synonymous_variant,DEFB129,SILENT,NM_080831.3:p.Leu67Leu/c.201G>A,ctG/ctA,LOW,COSM149121(1),0.270168,0.2857,rs13045643,,,,,,chr20,210061,210061,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu67Leu/c.201G>A|183|DEFB129|protein_coding|CODING|NM_080831.3|2|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.3753,0.3761,0.3907,0.30,0.09,0.41,,,,,,,,,,,,,,,,
synonymous_variant,C20orf96,SILENT,NM_153269.2:p.Leu154Leu/c.460C>T,Ctg/Ttg,LOW,COSM443588(5),0.297524,0.3304,rs6035541,,,,,,chr20,259818,259818,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu153Leu/c.457C>T|362|C20orf96|protein_coding|CODING|NM_080571.1|5|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu154Leu/c.460C>T|363|C20orf96|protein_coding|CODING|NM_153269.2|5|1)","HUVEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.3487,0.2622,0.3559,0.33,0.23,0.38,,,,,,,,,,,,,,,,
synonymous_variant,ZCCHC3,SILENT,NM_033089.6:p.Asp96Asp/c.288T>C,gaT/gaC,LOW,COSM3758509(3),0.588858,0.375,rs2223665,,,,,,chr20,278515,278515,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp96Asp/c.288T>C|404|ZCCHC3|protein_coding|CODING|NM_033089.6|1|1),"NHEK:H3K9ac,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HMEC:H3K27ac,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.591,0.6643,0.6064,,,,,,,,,,,,,,,,,,,
synonymous_variant,TRIB3,SILENT,NM_001301201.1:p.Tyr138Tyr/c.414T>C,taT/taC,LOW,COSM443798(2),0.718251,0.7212,rs6051637,,,,,,chr20,371972,371972,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr111Tyr/c.333T>C|358|TRIB3|protein_coding|CODING|NM_001301188.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr111Tyr/c.333T>C|358|TRIB3|protein_coding|CODING|NM_001301190.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr111Tyr/c.333T>C|358|TRIB3|protein_coding|CODING|NM_001301193.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr111Tyr/c.333T>C|358|TRIB3|protein_coding|CODING|NM_001301196.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr138Tyr/c.414T>C|385|TRIB3|protein_coding|CODING|NM_001301201.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr111Tyr/c.333T>C|358|TRIB3|protein_coding|CODING|NM_021158.4|3|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.8425,0.4957,0.5447,0.65,0.82,0.56,,,,,,,,,,,,,,,,
synonymous_variant,TCF15,SILENT,NM_004609.3:p.Arg142Arg/c.426T>C,cgT/cgC,LOW,,0.862021,0.998,rs282164,,,,,,chr20,590456,590456,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg142Arg/c.426T>C|199|TCF15|protein_coding|CODING|NM_004609.3|1|1),"K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9121,0.9035,0.8072,0.79,0.76,0.80,,,,,,,,,,,,,,,,
missense_variant,TCF15,MISSENSE,NM_004609.3:p.Val114Leu/c.340G>C,Gtg/Ctg,MODERATE,COSM3758671(12),0.994808,0.9841,rs2754502,1(T),0.0(B),-3.65(N),-0.9234(T),,chr20,590542,590542,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val114Leu/c.340G>C|199|TCF15|protein_coding|CODING|NM_004609.3|1|1),"K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,1,0.9957,0.996,,,,,0.000523(N),0.997(P),-2.32(D),0.0000(T),0.387,0.632551,4.35,3.11,-0.247000,0.946000,3.783000,0.891000,1.000000,1.000000,7.4672
synonymous_variant,TCF15,SILENT,NM_004609.3:p.Thr113Thr/c.339C>G,acC/acG,LOW,COSM3758672(12),0.995407,0.9841,rs2665781,,,,,,chr20,590543,590543,G,C,hom,synonymous_variant(LOW|SILENT|acC/acG|p.Thr113Thr/c.339C>G|199|TCF15|protein_coding|CODING|NM_004609.3|1|1),"K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,1,0.9971,0.997,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC52A3,SILENT,NM_033409.3:p.Ser411Ser/c.1233T>C,agT/agC,LOW,COSM3758788(3),0.655351,0.5238,rs910857,,,,,,chr20,741847,741847,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser411Ser/c.1233T>C|469|SLC52A3|protein_coding|CODING|NM_033409.3|5|1),"NHEK:CTCF,GM06990:H3K27me3,K562:CTCF,HepG2:Nrsf,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:E2F6,CD4:CTCF,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.7495,0.647,0.7217,0.70,0.65,0.73,,,,,,,,,,,,,,,,
synonymous_variant,SLC52A3,SILENT,NM_033409.3:p.Leu255Leu/c.765C>T,ctC/ctT,LOW,,0.308706,0.124,rs3746805,,,,,,chr20,744450,744450,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu255Leu/c.765C>T|469|SLC52A3|protein_coding|CODING|NM_033409.3|3|1),"HMEC:H3K27me3,HepG2:H3K27me3",,,,0.4407,0.4755,0.4881,0.38,0.18,0.48,,,,,,,,,,,,,,,,
synonymous_variant,SLC52A3,SILENT,NM_033409.3:p.Ala107Ala/c.321C>T,gcC/gcT,LOW,COSM3758792(1),0.25639,0.2014,rs3746808,,,,,,chr20,746098,746098,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala107Ala/c.321C>T|469|SLC52A3|protein_coding|CODING|NM_033409.3|2|1),"HMEC:H3K27me3,HepG2:H3K27me3",,,,0.363,0.3401,0.3082,0.26,0.16,0.31,,,,,,,,,,,,,,,,
synonymous_variant,FAM110A,SILENT,NM_031424.5:p.Phe77Phe/c.231T>C,ttT/ttC,LOW,COSM444268(3),0.82508,0.8829,rs538094,,,,,,chr20,825678,825678,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe77Phe/c.231T>C|295|FAM110A|protein_coding|CODING|NM_031424.5|1|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe77Phe/c.231T>C|295|FAM110A|protein_coding|CODING|NM_001042353.2|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe77Phe/c.231T>C|295|FAM110A|protein_coding|CODING|NM_001289145.1|3|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe77Phe/c.231T>C|295|FAM110A|protein_coding|CODING|NM_001289147.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe77Phe/c.231T>C|295|FAM110A|protein_coding|CODING|NM_207121.4|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe77Phe/c.231T>C|295|FAM110A|protein_coding|CODING|NM_001289146.1|2|1)","NHEK:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:H3K4me2,NHEK:DNase1",,,,0.7474,0.8934,0.8708,0.84,0.78,0.87,,,,,,,,,,,,,,,,
missense_variant,PSMF1,MISSENSE,NM_006814.3:p.Phe36Cys/c.107T>G,tTc/tGc,MODERATE,COSM3758429(2),0.729832,0.4583,rs1803415,0.11(T),"0.001,0.002,0.001(B,B,B)",0(N),-1.0571(T),,chr20,1099523,1099523,T,G,hom,"missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe36Cys/c.107T>G|271|PSMF1|protein_coding|CODING|NM_006814.3|1|1),missense_variant(MODERATE|MISSENSE|tTc/tGc|p.Phe36Cys/c.107T>G|271|PSMF1|protein_coding|CODING|NM_178578.2|2|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,CD4:H4K16ac,NHEK:H3K27ac,H1ESC:H3K36me3,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,CD4:H4K8ac,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,NH-A:H3K4me3,K562:Gabp,HSMM:H3K9ac,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3",,,,0.7638,0.7723,0.838,0.82,0.81,0.83,,0.240441(N),0.000(P),"0.99,0.99,0.99,0.99,0.99(T,T,T,T,T)",0.0000(T),0.426,-0.892019,4.26,1.94,-0.694000,0.206000,-0.118000,0.118000,0.981000,0.002000,3.0951
synonymous_variant,PSMF1,SILENT,NM_006814.3:p.Ile112Ile/c.336C>T,atC/atT,LOW,COSM4001817(1),0.0938498,0.0546,rs6514113,,,,,,chr20,1108122,1108122,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile112Ile/c.336C>T|271|PSMF1|protein_coding|CODING|NM_006814.3|3|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile112Ile/c.336C>T|271|PSMF1|protein_coding|CODING|NM_178578.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0164,0.0793,0.1243,0.13,0.17,0.11,,,,,,,,,,,,,,,,
missense_variant,RAD21L1,MISSENSE,NM_001136566.2:p.Cys90Arg/c.268T>C,Tgc/Cgc,MODERATE,COSM3840412(3),0.49401,0.2202,rs450739,1(T),0.0(B),-3.09(N),-0.9410(T),,chr20,1210647,1210647,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys90Arg/c.268T>C|556|RAD21L1|protein_coding|CODING|NM_001136566.2|3|1),"HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.4264,0.428,0.5378,,,,,0.000007(N),0.001(P),"1.77,1.77,1.77(T,T,T)",0.0000(T),0.258,-0.198432,5.16,5.16,-0.186000,1.555000,3.090000,0.979000,1.000000,1.000000,14.0293
missense_variant,RAD21L1,MISSENSE,NM_001136566.2:p.Ile152Leu/c.454A>C,Att/Ctt,MODERATE,,0.50619,0.2143,rs203534,1(T),0.0(B),-1.78(N),-0.9445(T),,chr20,1214814,1214814,A,C,hom,missense_variant(MODERATE|MISSENSE|Att/Ctt|p.Ile152Leu/c.454A>C|556|RAD21L1|protein_coding|CODING|NM_001136566.2|5|1),"NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4305,0.4323,0.5686,0.59,0.73,0.53,,0.000096(N),1.000(P),"1.12,0.88,1.12(T,T,T)",0.0000(T),0.019,-1.586397,4.69,3.73,-0.187000,0.673000,1.611000,0.043000,0.998000,0.999000,9.3464
missense_variant,RAD21L1,MISSENSE,NM_001136566.2:p.His423Pro/c.1268A>C,cAt/cCt,MODERATE,COSM4001819(1),0.0595048,0.0159,rs17717241,0.27(T),0.003(B),0(N),-1.0794(T),,chr20,1224774,1224774,A,C,het,missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His423Pro/c.1268A>C|556|RAD21L1|protein_coding|CODING|NM_001136566.2|11|1),,,,,0.0235,0.0836,0.0964,0.09,0.09,0.09,,,1.000(P),"0.01,0.09,0.01(T,T,T)",0.0036(T),0.044,-0.731023,5.5,3.56,-0.242000,0.865000,0.307000,0.001000,0.001000,0.002000,7.6764
missense_variant,SDCBP2,MISSENSE,NM_001199784.1:p.Arg223Cys/c.667C>T,Cgc/Tgc,MODERATE,COSM3758435(1),0.135783,0.0208,rs1048621,0(D),0.777(P),3.39(M),-1.0908(T),,chr20,1293046,1293046,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg223Cys/c.667C>T|292|SDCBP2|protein_coding|CODING|NM_001199784.1|7|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg138Cys/c.412C>T|207|SDCBP2|protein_coding|CODING|NM_015685.5|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg223Cys/c.667C>T|292|SDCBP2|protein_coding|CODING|NM_080489.4|7|1),non_coding_exon_variant(MODIFIER|||n.945C>T||FKBP1A-SDCBP2||NON_CODING|NR_037661.1|8|1)","H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.1012,0.1974,0.2247,0.24,0.17,0.27,,0.000093(N),0.000(P),"1.56,1.56,1.56,1.56(T,T,T,T)",0.0000(T),0.36,3.900364,4.7,2.75,-0.291000,0.582000,3.735000,0.989000,1.000000,1.000000,5.8309
missense_variant,SDCBP2,MISSENSE,NM_001199784.1:p.Val182Met/c.544G>A,Gtg/Atg,MODERATE,COSM149124(4),0.324681,0.0913,rs2273959,1(T),0.008(B),-0.635(N),-0.9280(T),,chr20,1293247,1293247,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val182Met/c.544G>A|292|SDCBP2|protein_coding|CODING|NM_001199784.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val97Met/c.289G>A|207|SDCBP2|protein_coding|CODING|NM_015685.5|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val182Met/c.544G>A|292|SDCBP2|protein_coding|CODING|NM_080489.4|6|1),non_coding_exon_variant(MODIFIER|||n.822G>A||FKBP1A-SDCBP2||NON_CODING|NR_037661.1|7|1)","H1ESC:H3K27me3,NHEK:H3K36me3",,,,0.2761,0.3847,0.4592,0.46,0.41,0.49,,0.000168(N),1.000(P),"1.65,1.65,1.65,1.65(T,T,T,T)",0.0000(T),0.095,-1.445829,4.51,4.51,-0.361000,0.859000,1.973000,0.357000,0.995000,1.000000,10.1249
missense_variant,SIRPB2,MISSENSE,NM_001122962.1:p.Glu215Ala/c.644A>C,gAg/gCg,MODERATE,,0.953075,0.996,rs6042507,0.46(T),"0.001,0.0,0.0(B,B,B)",0.425(N),-0.9790(T),,chr20,1459060,1459060,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu215Ala/c.644A>C|342|SIRPB2|protein_coding|CODING|NM_001122962.1|3|1),missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu117Ala/c.350A>C|244|SIRPB2|protein_coding|CODING|NM_001134836.1|3|1)","NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,GM12878:H3K27me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,K562:H3K27me3,NHEK:H3K4me2,HMEC:DNase1,HepG2:H3K27me3,HMEC:H3K4me3,NHEK:DNase1",Circulating_myeloperoxidase_levels_serum,,,0.9775,0.9193,0.8658,0.91,0.98,0.89,,0.746386(N),1.000(P),"-0.15,-0.15,-0.15,-0.15(T,T,T,T)",0.0000(T),0.06,-0.494639,4.05,2.96,-1.169000,0.251000,0.665000,0.073000,0.059000,0.001000,3.0799
missense_variant,SIRPD,MISSENSE,NM_178460.2:p.Asn55Asp/c.163A>G,Aat/Gat,MODERATE,,0.842452,0.7857,rs2249317,0.32(T),0.0(B),-1.63(N),-0.9797(T),,chr20,1532595,1532595,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn55Asp/c.163A>G|197|SIRPD|protein_coding|CODING|NM_178460.2|2|1),"GM12878:H3K27me3,HepG2:H3K27me3",,,,0.865,0.6787,0.8588,0.87,0.92,0.85,,0.496708(N),1.000(P),"4.41,-0.12(T,T)",0.0000(T),0.006,0.789545,3.79,-2.05,-0.220000,-0.523000,-0.441000,0.110000,0.000000,0.000000,3.0627
synonymous_variant,SIRPD,SILENT,NM_178460.2:p.Leu12Leu/c.34C>T,Ctg/Ttg,LOW,,0.0950479,0.003,rs11697395,,,,,,chr20,1538266,1538266,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu12Leu/c.34C>T|197|SIRPD|protein_coding|CODING|NM_178460.2|1|1),HepG2:H3K27me3,,,,0.1104,0.1023,0.2167,0.17,0.09,0.20,,,,,,,,,,,,,,,,
missense_variant,SIRPB1,MISSENSE,NM_006065.3:p.Ala398Val/c.1193C>T,gCc/gTc,MODERATE,,0.0589058,0.002,rs62623705,0(D),"0.005,0.118(B,B)",1.78(L),-0.9534(T),,chr20,1546805,1546805,G,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala181Val/c.542C>T|181|SIRPB1|protein_coding|CODING|NM_001083910.2|3|1),missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala398Val/c.1193C>T|398|SIRPB1|protein_coding|CODING|NM_006065.3|5|1)","GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3",,,,0.047,0.0576,0.1352,0.11,0.07,0.13,,0.957890(N),1.000(P),"4.14,4.5,4.51(T,T,T)",0.0001(T),0.107,2.281769,3.3,-2.85,0.563000,-0.434000,0.143000,0.283000,0.001000,0.037000,0.2986
missense_variant,SIRPB1,MISSENSE,NM_006065.3:p.Ala363Pro/c.1087G>C,Gca/Cca,MODERATE,COSM4134239(1),0.808107,0.7887,rs2243603,0.42(T),"0.0,0.0(B,B)",-0.345(N),-1.0508(T),,chr20,1546911,1546911,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala146Pro/c.436G>C|181|SIRPB1|protein_coding|CODING|NM_001083910.2|3|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala363Pro/c.1087G>C|398|SIRPB1|protein_coding|CODING|NM_006065.3|5|1),splice_region_variant(LOW|||c.436G>C|181|SIRPB1|protein_coding|CODING|NM_001083910.2|3|1),splice_region_variant(LOW|||c.1087G>C|398|SIRPB1|protein_coding|CODING|NM_006065.3|5|1)","GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3",,,,0.8016,0.6369,0.7724,0.82,0.90,0.77,,0.000000(N),1.000(P),"4.33,4.4,4.4(T,T,T)",0.0000(T),0.139,0.677848,3.66,-3.08,-0.975000,-0.783000,-0.036000,0.003000,0.000000,0.000000,3.0474
synonymous_variant,SIRPB1,SILENT,NM_006065.3:p.Ala350Ala/c.1050G>A,gcG/gcA,LOW,COSM3758447(1),0.751997,0.7917,rs2254458,,,,,,chr20,1551485,1551485,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala350Ala/c.1050G>A|398|SIRPB1|protein_coding|CODING|NM_006065.3|4|1),intron_variant(MODIFIER|||c.434-4572G>A|181|SIRPB1|protein_coding|CODING|NM_001083910.2|2|1)","GM06990:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3",,,,0.8047,0.585,0.6511,0.70,0.80,0.65,,,,,,,,,,,,,,,,
missense_variant,SIRPB1,MISSENSE,NM_006065.3:p.Ile229Met/c.687A>G,atA/atG,MODERATE,COSM3927766(4),0.824081,0.7937,rs2253427,0.02(D),0.002(B),0.205(N),-1.0609(T),,chr20,1552430,1552430,T,C,hom,"missense_variant(MODERATE|MISSENSE|atA/atG|p.Ile229Met/c.687A>G|398|SIRPB1|protein_coding|CODING|NM_006065.3|3|1),intron_variant(MODIFIER|||c.434-5517A>G|181|SIRPB1|protein_coding|CODING|NM_001083910.2|2|1)","GM12878:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.8569,0.6427,0.7893,0.83,0.91,0.78,,0.012233(N),0.000(P),4.01(T),0.0000(T),0.08,0.362082,2.47,2.47,-0.365000,0.391000,-0.012000,0.027000,0.996000,0.606000,5.4584
synonymous_variant,SIRPB1,SILENT,NM_006065.3:p.Asp220Asp/c.660C>T,gaC/gaT,LOW,COSM4134241(1),0.0680911,0.002,rs16995332,,,,,,chr20,1552457,1552457,G,A,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp220Asp/c.660C>T|398|SIRPB1|protein_coding|CODING|NM_006065.3|3|1),intron_variant(MODIFIER|||c.434-5544C>T|181|SIRPB1|protein_coding|CODING|NM_001083910.2|2|1)","GM12878:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.0511,0.0576,0.1382,0.12,0.09,0.13,,,,,,,,,,,,,,,,
missense_variant,SIRPB1,MISSENSE,NM_001135844.2:p.Arg106Ser/c.316C>A,Cgc/Agc,MODERATE,COSM1615350(2),,,rs1135201,0.19(T),0.137(B),1.64(L),-0.9692(T),,chr20,1592120,1592120,G,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg106Ser/c.316C>A|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8395C>A|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8395C>A|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,,,,,,,,,0.743(D),-0.15(T),0.0000(T),0.492,-0.337253,2.65,-2.79,-2.062000,-0.294000,0.000000,0.020000,0.142000,0.081000,4.2858
missense_variant,SIRPB1,MISSENSE,NM_001135844.2:p.Asn99Lys/c.297C>A,aaC/aaA,MODERATE,COSM4134244(3),,,rs149722469,0.01(D),0.267(B),1.9(L),-0.9831(T),,chr20,1592139,1592139,G,T,het,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn99Lys/c.297C>A|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8376C>A|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8376C>A|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,,,,,,,,,1.000(D),4.42(T),0.0117(T),0.1,0.562046,2.65,2.65,0.411000,1.462000,0.203000,0.085000,0.420000,0.000000,8.8224
missense_variant,SIRPB1,MISSENSE,NM_001135844.2:p.Asn99Asp/c.295A>G,Aac/Gac,MODERATE,COSM4134245(3),,,rs141518677,0.11(T),0.016(B),1.9(L),-0.9598(T),,chr20,1592141,1592141,T,C,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn99Asp/c.295A>G|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8374A>G|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8374A>G|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,,,,,,,,,1.000(N),4.38(T),0.0089(T),0.032,-0.452445,2.65,0.124,0.338000,-0.113000,-1.778000,0.100000,0.092000,0.000000,4.5386
synonymous_variant,SIRPB1,SILENT,NM_001135844.2:p.Pro87Pro/c.261A>C,ccA/ccC,LOW,COSM3681135(4),0.548522,0.622,rs201724217,,,,,,chr20,1592175,1592175,T,G,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro87Pro/c.261A>C|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8340A>C|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8340A>C|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,0.635,0.3718,0.3559,,,,,,,,,,,,,,,,,,,
synonymous_variant,SIRPB1,SILENT,NM_001135844.2:p.Gln81Gln/c.243G>A,caG/caA,LOW,COSM1721355(4),0.563698,0.631,rs371465078,,,,,,chr20,1592193,1592193,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln81Gln/c.243G>A|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8322G>A|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8322G>A|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,0.6564,0.3876,0.3748,,,,,,,,,,,,,,,,,,,
missense_variant,SIRPB1,MISSENSE,NM_001135844.2:p.Gly74Ala/c.221G>C,gGc/gCc,MODERATE,COSM3783459(1),0.641573,0.7351,rs41289057,0.2(T),0.009(B),1.665(L),-0.9800(T),,chr20,1592215,1592215,C,G,het,"missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly74Ala/c.221G>C|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8300G>C|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8300G>C|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,0.6984,0.5029,0.4781,,,,,,1.000(P),-0.24(T),0.0000(T),0.117,0.275498,2.75,-5.49,-0.474000,-1.538000,-1.679000,0.017000,0.000000,0.000000,9.7994
synonymous_variant,SIRPB1,SILENT,NM_001135844.2:p.Thr57Thr/c.171T>C,acT/acC,LOW,,0.66893,0.7669,rs45471597,,,,,,chr20,1592265,1592265,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr57Thr/c.171T>C|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8250T>C|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8250T>C|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,0.7106,0.5331,0.5318,,,,,,,,,,,,,,,,,,,
missense_variant,SIRPB1,MISSENSE,NM_001135844.2:p.Thr51Ile/c.152C>T,aCt/aTt,MODERATE,COSM3758450(1),0.66893,0.7669,rs1135196,0.04(D),0.832(P),2.135(M),-1.0641(T),,chr20,1592284,1592284,G,A,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr51Ile/c.152C>T|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8231C>T|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8231C>T|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,0.7106,0.5331,0.5318,,,,,,0.000(P),4.12(T),0.0000(T),0.376,2.519337,2.61,1.63,0.205000,0.406000,0.679000,0.019000,0.830000,0.961000,5.1542
missense_variant,SIRPB1,MISSENSE,NM_001135844.2:p.Ile42Val/c.124A>G,Ata/Gta,MODERATE,COSM3758451(2),0.66234,0.7639,rs72484087,1(T),0.0(B),-1.085(N),-0.9440(T),,chr20,1592312,1592312,T,C,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile42Val/c.124A>G|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8203A>G|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8203A>G|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,0.7086,0.5245,0.5149,,,,,,1.000(P),0.1(T),0.0000(T),0.027,-2.307917,2.61,0.574,-2.568000,-0.280000,0.670000,0.000000,0.000000,0.003000,5.5118
synonymous_variant,SIRPB1,SILENT,NM_001135844.2:p.Glu31Glu/c.93A>G,gaA/gaG,LOW,,0.548123,0.6052,rs200963975,,,,,,chr20,1592343,1592343,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu31Glu/c.93A>G|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8172A>G|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8172A>G|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,0.6421,0.3732,0.3598,,,,,,,,,,,,,,,,,,,
synonymous_variant,SIRPB1,SILENT,NM_001135844.2:p.Gly29Gly/c.87C>T,ggC/ggT,LOW,,,,,,,,,,chr20,1592349,1592349,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly29Gly/c.87C>T|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8166C>T|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8166C>T|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SIRPB1,SILENT,NM_001135844.2:p.Ala28Ala/c.84T>G,gcT/gcG,LOW,COSM3681139(2),,,rs139138248,,,,,,chr20,1592352,1592352,A,C,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala28Ala/c.84T>G|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8163T>G|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8163T>G|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SIRPB1,SILENT,NM_001135844.2:p.Val27Val/c.81A>G,gtA/gtG,LOW,COSM3681140(2),,,rs145146965,,,,,,chr20,1592355,1592355,T,C,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val27Val/c.81A>G|398|SIRPB1|protein_coding|CODING|NM_001135844.2|2|1),intron_variant(MODIFIER|||c.76+8160A>G|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),intron_variant(MODIFIER|||c.76+8160A>G|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)",HepG2:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SIRPB1,MISSENSE,NM_001135844.2:p.Arg23Gly/c.67A>G,Aga/Gga,MODERATE,COSM1179791(1),0.243011,0.2212,rs1535882,0.35(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.8992(T),,chr20,1600524,1600524,T,C,het,"missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg23Gly/c.67A>G|181|SIRPB1|protein_coding|CODING|NM_001083910.2|1|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg23Gly/c.67A>G|398|SIRPB1|protein_coding|CODING|NM_001135844.2|1|1),missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg23Gly/c.67A>G|398|SIRPB1|protein_coding|CODING|NM_006065.3|1|1)","CD4:H3K18ac,CD4:H4K8ac,CD4:H3K27ac,CD4:H3K4me1,HepG2:H3K27me3,GM12878:H3K4me2",,,,0.1902,0.4164,0.3499,0.28,0.16,0.34,,0.013381(N),1.000(P),"4.47,4.83,2.96(T,T,T)",0.0000(T),0.049,-0.870473,0.15,0.15,-1.042000,-1.047000,-0.970000,0.002000,0.006000,0.145000,.
synonymous_variant,SIRPG,SILENT,NM_018556.3:p.Leu345Leu/c.1035A>G,ctA/ctG,LOW,,0.894169,0.8681,rs9305125,,,,,,chr20,1615959,1615959,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu345Leu/c.1035A>G|387|SIRPG|protein_coding|CODING|NM_018556.3|4|1),intron_variant(MODIFIER|||c.748+875A>G|276|SIRPG|protein_coding|CODING|NM_001039508.1|3|1),intron_variant(MODIFIER|||c.431-5007A>G|170|SIRPG|protein_coding|CODING|NM_080816.2|2|1),intron_variant(MODIFIER|||n.213+1593T>C||LOC101929010||NON_CODING|NR_110090.1|1|1)","GM06990:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3",,,,0.8947,0.8646,0.8151,0.87,0.96,0.82,,,,,,,,,,,,,,,,
synonymous_variant,SIRPG,SILENT,NM_018556.3:p.Arg74Arg/c.222G>A,cgG/cgA,LOW,COSM149126(3),0.351637,0.2708,rs6079967,,,,,,chr20,1629906,1629906,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg74Arg/c.222G>A|276|SIRPG|protein_coding|CODING|NM_001039508.1|2|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg74Arg/c.222G>A|387|SIRPG|protein_coding|CODING|NM_018556.3|2|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg74Arg/c.222G>A|170|SIRPG|protein_coding|CODING|NM_080816.2|2|1),downstream_gene_variant(MODIFIER||787|||LOC101929010||NON_CODING|NR_110090.1||1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2965,0.5058,0.4394,0.41,0.33,0.46,,,,,,,,,,,,,,,,
synonymous_variant,SIRPA,SILENT,NM_001040022.1:p.Val43Val/c.129G>A,gtG/gtA,LOW,COSM4134290(1),0.235423,0.4325,rs1135192,,,,,,chr20,1895794,1895794,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val43Val/c.129G>A|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val43Val/c.129G>A|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val43Val/c.129G>A|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2229,0.281,0.1769,0.03,0.02,0.04,,,,,,,,,,,,,,,,
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Leu44Ser/c.131T>C,tTg/tCg,MODERATE,,0.23123,0.4286,rs143735290,1(T),"0.008,0.003(B,B)",-1.015(N),-0.9949(T),,chr20,1895796,1895796,T,C,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu44Ser/c.131T>C|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu44Ser/c.131T>C|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu44Ser/c.131T>C|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2178,0.2781,0.171,,,,,0.144856(N),1.000(N),"-0.07,-0.07,-0.07(T,T,T)",0.0605(T),0.202,-2.041277,5.11,3.19,-0.262000,0.763000,0.507000,0.003000,0.604000,0.295000,7.8309
synonymous_variant,SIRPA,SILENT,NM_001040022.1:p.Leu44Leu/c.132G>A,ttG/ttA,LOW,,0.23103,0.4286,rs146490405,,,,,,chr20,1895797,1895797,G,A,het,"synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu44Leu/c.132G>A|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu44Leu/c.132G>A|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu44Leu/c.132G>A|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2178,0.2781,0.171,,,,,,,,,,,,,,,,,,,
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Thr50Ser/c.148A>T,Aca/Tca,MODERATE,COSM3933796(1),0.211062,0.4157,rs17855609,0.95(T),"0.004,0.0,0.002(B,B,B)",0.5(N),-0.9439(T),,chr20,1895813,1895813,A,T,het,"missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr50Ser/c.148A>T|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr50Ser/c.148A>T|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|Aca/Tca|p.Thr50Ser/c.148A>T|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2035,0.2522,0.1461,,,,,0.325285(N),1.000(P),"-0.04,-0.04,-0.04(T,T,T)",0.0747(T),0.093,-0.567412,5.11,-8.54,-2.203000,-1.741000,-0.780000,0.045000,0.506000,0.000000,7.4698
synonymous_variant,SIRPA,SILENT,NM_001040022.1:p.Thr50Thr/c.150A>G,acA/acG,LOW,,0.210863,0.4147,rs17853846,,,,,,chr20,1895815,1895815,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr50Thr/c.150A>G|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr50Thr/c.150A>G|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr50Thr/c.150A>G|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2035,0.2522,0.1461,,,,,,,,,,,,,,,,,,,
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Thr52Ile/c.155C>T,aCt/aTt,MODERATE,,0.215655,0.4246,rs17855610,0.1(T),"0.32,0.104,0.085(B,B,B)",2.37(M),-1.0040(T),,chr20,1895820,1895820,C,T,het,"missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr52Ile/c.155C>T|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr52Ile/c.155C>T|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr52Ile/c.155C>T|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2076,0.2536,0.1511,,,,,0.000204(N),0.559(P),"4.12,4.12,4.12(T,T,T)",0.0000(T),0.426,1.181062,5.11,2.01,0.555000,0.735000,0.040000,0.099000,0.989000,0.080000,7.835
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Arg54His/c.161G>A,cGc/cAc,MODERATE,,0.215256,0.4236,rs17855611,0.46(T),"0.001,0.0,0.001(B,B,B)",0.7(N),-1.0547(T),,chr20,1895826,1895826,G,A,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg54His/c.161G>A|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg54His/c.161G>A|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg54His/c.161G>A|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2086,0.2522,0.1501,,,,,0.072964(N),1.000(P),"-0.16,-0.16,-0.16(T,T,T)",0.0000(T),0.077,0.377659,5.11,-10.2,-5.024000,-4.715000,-4.165000,0.002000,0.000000,0.000000,8.8218
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Ala57Val/c.170C>T,gCg/gTg,MODERATE,COSM4134292(1),0.263379,0.4474,rs17855612,1(T),"0.001,0.001,0.001(B,B,B)",-0.805(N),-0.9457(T),,chr20,1895835,1895835,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala57Val/c.170C>T|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala57Val/c.170C>T|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala57Val/c.170C>T|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2863,0.304,0.1849,0.03,0.02,0.04,,0.968974(N),1.000(P),"-0.07,-0.07,-0.07(T,T,T)",0.0000(T),0.045,-1.095121,5.11,0.0951,-2.077000,0.089000,-0.221000,0.000000,0.001000,0.000000,8.9342
synonymous_variant,SIRPA,SILENT,NM_001040022.1:p.Ser59Ser/c.177T>C,tcT/tcC,LOW,COSM3740041(5),0.336861,0.5506,rs17853847,,,,,,chr20,1895842,1895842,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser59Ser/c.177T>C|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser59Ser/c.177T>C|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser59Ser/c.177T>C|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.364,0.3631,0.2604,0.04,0.03,0.05,,,,,,,,,,,,,,,,
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Asn100Asp/c.298A>G,Aac/Gac,MODERATE,COSM1599885(2),,,rs17855613,0.08(T),"0.004,0.055,0.007(B,B,B)",1.735(L),-0.9484(T),,chr20,1895963,1895963,A,G,het,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn100Asp/c.298A>G|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn100Asp/c.298A>G|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn100Asp/c.298A>G|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.111247(N),1.000(N),"4.38,4.38,4.38(T,T,T)",0.0104(T),0.038,1.430951,5.11,-5.69,-0.388000,-1.294000,-1.479000,0.010000,0.000000,0.000000,10.2665
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Asn100Lys/c.300C>A,aaC/aaA,MODERATE,COSM1599896(2),0.0958466,0.1835,rs17855614,0.01(D),"0.056,0.136,0.082(B,B,B)",2.015(M),-0.9334(T),,chr20,1895965,1895965,C,A,het,"missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn100Lys/c.300C>A|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn100Lys/c.300C>A|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|aaC/aaA|p.Asn100Lys/c.300C>A|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1166,0.1095,0.0537,,,,,0.111247(N),1.000(N),"4.42,4.42,4.42(T,T,T)",0.0126(T),0.095,1.533326,5.11,0.771,-0.315000,0.028000,-0.328000,0.013000,0.002000,0.000000,8.1767
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Arg107Ser/c.319C>A,Cgc/Agc,MODERATE,COSM3746556(1),,,rs17855615,0.13(T),"0.657,0.077,0.539(P,B,P)",1.29(L),-0.6348(T),,chr20,1895984,1895984,C,A,het,"missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg107Ser/c.319C>A|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg107Ser/c.319C>A|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|Cgc/Agc|p.Arg107Ser/c.319C>A|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.002964(N),0.090(P),"-0.15,-0.15,-0.15(T,T,T)",0.1974(T),0.61,2.798885,5.11,3.0,0.555000,1.377000,0.167000,0.663000,1.000000,0.671000,5.8595
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Gly109Ser/c.325G>A,Ggt/Agt,MODERATE,COSM3746558(2),,,rs17855616,1(T),"0.002,0.0,0.002(B,B,B)",-3.375(N),-0.9444(T),,chr20,1895990,1895990,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly109Ser/c.325G>A|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly109Ser/c.325G>A|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly109Ser/c.325G>A|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,0.001868(N),1.000(P),"0.05,0.05,0.05(T,T,T)",0.0241(T),0.142,-0.438876,5.11,1.43,-1.453000,-0.175000,0.921000,0.640000,0.994000,0.999000,6.3779
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Val132Met/c.394G>A,Gtg/Atg,MODERATE,COSM1410604(1),0.409345,0.625,rs115287948,0.24(T),"0.057,0.01,0.084(B,B,B)",0.835(L),-0.9601(T),,chr20,1896059,1896059,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val132Met/c.394G>A|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val132Met/c.394G>A|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val132Met/c.394G>A|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.453,0.4222,0.3171,,,,,0.008420(N),1.000(P),"-0.13,-0.13,-0.13(T,T,T)",0.1564(T),0.175,1.059262,5.11,-2.28,-1.101000,-0.198000,-0.421000,0.002000,0.000000,0.000000,9.8059
missense_variant,SIRPA,MISSENSE,NM_001040022.1:p.Val132Ala/c.395T>C,gTg/gCg,MODERATE,COSM1410605(1),0.409345,0.625,rs114499682,0.24(T),"0.113,0.125,0.161(B,B,B)",1.495(L),-0.9627(T),,chr20,1896060,1896060,T,C,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val132Ala/c.395T>C|504|SIRPA|protein_coding|CODING|NM_001040022.1|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val132Ala/c.395T>C|504|SIRPA|protein_coding|CODING|NM_001040023.1|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val132Ala/c.395T>C|504|SIRPA|protein_coding|CODING|NM_080792.2|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.453,0.4222,0.3171,,,,,0.008420(N),1.000(N),"-0.07,-0.07,-0.07(T,T,T)",0.1909(T),0.28,1.858225,5.11,-4.1,-0.530000,-0.575000,-1.908000,0.016000,0.001000,0.000000,4.5618
missense_variant,STK35,MISSENSE,NM_080836.3:p.Arg69Gly/c.205C>G,Cgg/Ggg,MODERATE,COSM4134308(2),0.301318,0.124,rs6112857,0.63(T),0.0(B),0(N),-0.9650(T),,chr20,2082732,2082732,C,G,het,missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg69Gly/c.205C>G|534|STK35|protein_coding|CODING|NM_080836.3|1|1),"H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,HSMM:H2AZ,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,HepG2:p300,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,NHEK:PolII,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,GM12878:p300,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,GM12878:TAF1,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,H1ESC:p300,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,HepG2:Jund,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ",,,,0.2311,0.3242,0.4095,,,,,,1.000(P),-0.27(T),0.0000(T),0.174,0.466396,3.98,1.79,0.561000,0.293000,-0.245000,0.062000,0.005000,0.006000,5.0742
missense_variant,TGM3,MISSENSE,NM_003245.3:p.Thr13Lys/c.38C>A,aCg/aAg,MODERATE,COSM1533216(4),0.742612,0.9246,rs214803,0.3(T),0.052(B),-0.145(N),-0.9041(T),,chr20,2290333,2290333,C,A,hom,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr13Lys/c.38C>A|693|TGM3|protein_coding|CODING|NM_003245.3|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8425,0.8329,0.838,0.71,0.49,0.82,,0.221885(N),1.000(P),-1.82(D),0.0000(T),0.051,1.048874,5.53,-1.08,-0.367000,-0.157000,-1.742000,0.006000,0.000000,0.000000,2.9077
missense_variant,TGM3,MISSENSE,NM_003245.3:p.Ser249Asn/c.746G>A,aGc/aAc,MODERATE,COSM3758485(1),0.111821,0.0685,rs214814,0.49(T),0.001(B),0.395(N),-1.1053(T),,chr20,2297790,2297790,G,A,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser249Asn/c.746G>A|693|TGM3|protein_coding|CODING|NM_003245.3|6|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.046,0.0778,0.1103,0.14,0.20,0.12,,0.442732(N),1.000(P),-2.43(D),0.0002(T),0.018,-0.537040,5.6,-0.391,-0.332000,-0.342000,0.122000,0.616000,0.991000,0.000000,1.7939
synonymous_variant,TGM3,SILENT,NM_003245.3:p.Asn527Asn/c.1581C>T,aaC/aaT,LOW,COSM2151644(1),0.0113818,0,rs34234428,,,,,,chr20,2312895,2312895,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn527Asn/c.1581C>T|693|TGM3|protein_coding|CODING|NM_003245.3|10|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0,0.0043,0.003,0.01,0.03,0.00,,,,,,,,,,,,,,,,
missense_variant,TGM3,MISSENSE,NM_003245.3:p.Gly654Arg/c.1960G>C,Ggg/Cgg,MODERATE,COSM3758487(2),0.810503,0.8641,rs214830,1(T),0.0(B),-1.545(N),-0.9603(T),,chr20,2321105,2321105,G,C,het,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly654Arg/c.1960G>C|693|TGM3|protein_coding|CODING|NM_003245.3|13|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:CTCF,HepG2:H3K27me3,H1ESC:CTCF",,,,0.8129,0.732,0.6561,0.70,0.87,0.61,,0.037719(N),1.000(P),-0.27(T),0.0000(T),0.038,-0.363051,4.38,3.4,-0.120000,0.545000,0.484000,0.866000,1.000000,0.778000,7.1601
missense_variant,TGM6,MISSENSE,NM_198994.2:p.Met58Val/c.172A>G,Atg/Gtg,MODERATE,,0.877995,0.6825,rs2076405,1(T),"0.0,0.0(B,B)",-2.075(N),-0.9539(T),,chr20,2375262,2375262,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met58Val/c.172A>G|625|TGM6|protein_coding|CODING|NM_001254734.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met58Val/c.172A>G|706|TGM6|protein_coding|CODING|NM_198994.2|2|1)","GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000118626.2,,0.8875,0.9236,0.9284,0.94,0.96,0.93,,0.018923(N),1.000(P),"-1.71,-1.71(D,D)",0.0000(T),0.051,-1.696461,4.62,3.66,-0.215000,0.664000,2.253000,0.041000,0.644000,0.158000,7.763
synonymous_variant,TGM6,SILENT,NM_198994.2:p.Lys263Lys/c.789G>A,aaG/aaA,LOW,COSM443553(1),0.182109,0.1498,rs6114033,,,,,,chr20,2380323,2380323,G,A,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys263Lys/c.789G>A|625|TGM6|protein_coding|CODING|NM_001254734.1|6|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys263Lys/c.789G>A|706|TGM6|protein_coding|CODING|NM_198994.2|6|1)",HepG2:H3K27me3,,,,0.2515,0.1974,0.1153,0.13,0.19,0.09,,,,,,,,,,,,,,,,
missense_variant,TMC2,MISSENSE,NM_080751.2:p.Arg123Lys/c.368G>A,aGg/aAg,MODERATE,COSM4134341(1),0.654353,0.5466,rs386601269,0.86(T),"0.0,0.0(B,B)",-1.995(N),-1.0248(T),,chr20,2539387,2539387,G,A,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg123Lys/c.368G>A|906|TMC2|protein_coding|CODING|NM_080751.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:Nrsf,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.6994,0.634,0.6203,0.66,0.72,0.62,,0.000188(N),1.000(P),0.81(T),0.0000(T),0.02,-1.437675,.,.,-1.375000,-1.413000,2.139000,0.018000,0.924000,1.000000,.
missense_variant,TMC2,MISSENSE,NM_080751.2:p.Trp217Arg/c.649T>C,Tgg/Cgg,MODERATE,,0.0515176,0.0635,rs34884202,0(D),"0.023,0.549,0.126,0.115(B,P,B,B)",3.085(M),-0.7421(T),,chr20,2559795,2559795,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp217Arg/c.649T>C|906|TMC2|protein_coding|CODING|NM_080751.2|6|1),"GM12878:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0869,0.0303,0.0537,0.04,0.03,0.04,,0.000136(D),1.000(D),0.79(T),0.0535(T),0.322,2.874702,4.87,4.87,0.460000,1.967000,7.291000,0.934000,1.000000,1.000000,12.7354
synonymous_variant,NOP56,SILENT,NM_006392.3:p.Ser35Ser/c.105T>C,tcT/tcC,LOW,COSM4134379(1),0.861222,0.8462,rs2073194,,,,,,chr20,2633936,2633936,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser35Ser/c.105T>C|594|NOP56|protein_coding|CODING|NM_006392.3|3|1),upstream_gene_variant(MODIFIER||922|||SNORD110||NON_CODING|NR_003078.1||1),upstream_gene_variant(MODIFIER||1777|||SNORA51||NON_CODING|NR_002981.1||1),downstream_gene_variant(MODIFIER||448|||MIR1292||NON_CODING|NR_031699.1||1),non_coding_exon_variant(MODIFIER|||n.234T>C||NOP56||CODING|NR_027700.2|3|1)","CD4:H3K9me1,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HSMM:H3K4me2,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,RCV000117823.2,,0.8333,0.8934,0.8002,0.83,0.91,0.80,,,,,,,,,,,,,,,,
synonymous_variant,NOP56,SILENT,NM_006392.3:p.Thr345Thr/c.1035T>C,acT/acC,LOW,COSM4134380(1),0.673722,0.626,rs8958,,,,-1.0158(T),,chr20,2637071,2637071,T,C,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr345Thr/c.1035T>C|594|NOP56|protein_coding|CODING|NM_006392.3|9|1),upstream_gene_variant(MODIFIER||199|||SNORD56||NON_CODING|NR_002739.1||1),upstream_gene_variant(MODIFIER||514|||SNORD57||NON_CODING|NR_002738.1||1),downstream_gene_variant(MODIFIER||1227|||SNORA51||NON_CODING|NR_002981.1||1),downstream_gene_variant(MODIFIER||243|||SNORD86||NON_CODING|NR_004399.1||1),downstream_gene_variant(MODIFIER||1970||385|IDH3B|protein_coding|CODING|NM_006899.3||1),downstream_gene_variant(MODIFIER||1970||383|IDH3B|protein_coding|CODING|NM_174855.2||1),non_coding_exon_variant(MODIFIER|||n.1344T>C||NOP56||CODING|NR_027700.2|9|1)","H1ESC:PolII,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000117822.2,,0.6759,0.683,0.6064,0.65,0.73,0.61,,,0.000(P),,0.0000(T),.,0.703984,5.91,-1.64,-0.275000,-0.621000,-0.124000,0.995000,0.975000,0.597000,2.0915
synonymous_variant,EBF4,SILENT,NM_001110514.1:p.Phe585Phe/c.1755T>C,ttT/ttC,LOW,,0.385184,0.5417,rs2073125,,,,,,chr20,2739583,2739583,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe585Phe/c.1755T>C|598|EBF4|protein_coding|CODING|NM_001110514.1|17|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4652,0.2565,0.2982,0.33,0.39,0.31,,,,,,,,,,,,,,,,
missense_variant,CPXM1,MISSENSE,NM_019609.4:p.Met623Val/c.1867A>G,Atg/Gtg,MODERATE,,,,,0.08(T),0.001(B),0.515(N),-0.9653(T),,chr20,2775279,2775279,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met549Val/c.1645A>G|660|CPXM1|protein_coding|CODING|NM_001184699.1|13|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met623Val/c.1867A>G|734|CPXM1|protein_coding|CODING|NM_019609.4|13|1)","H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000024(N),0.984(N),4.04(T),0.0077(T),0.223,1.878451,5.53,3.23,0.533000,1.107000,0.309000,0.997000,1.000000,0.974000,4.8412
synonymous_variant,C20orf141,SILENT,NM_080739.2:p.Leu59Leu/c.177G>A,ctG/ctA,LOW,COSM4134390(2),0.146166,0.1319,rs12625619,,,,,,chr20,2796007,2796007,G,A,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu59Leu/c.177G>A|165|C20orf141|protein_coding|CODING|NM_080739.2|1|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu59Leu/c.177G>A|165|C20orf141|protein_coding|CODING|NM_001256538.1|2|1),upstream_gene_variant(MODIFIER||969||152|TMEM239|protein_coding|CODING|NM_001167670.1||1)","H1ESC:H3K27me3,IMR90:H3K4me1,IMR90:H3K18ac,HepG2:H3K27me3",,,,0.1063,0.1225,0.0726,0.14,0.22,0.10,,,,,,,,,,,,,,,,
missense_variant,PTPRA,MISSENSE,NM_002836.3:p.Pro109Leu/c.326C>T,cCa/cTa,MODERATE,COSM149129(2),0.26897,0.1181,rs1178027,0.05(D),"0.0,0.002(B,B)",0.695(N),-0.9374(T),,chr20,2945759,2945759,C,T,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro109Leu/c.326C>T|802|PTPRA|protein_coding|CODING|NM_002836.3|9|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro109Leu/c.326C>T|793|PTPRA|protein_coding|CODING|NM_080840.2|5|1),missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro109Leu/c.326C>T|793|PTPRA|protein_coding|CODING|NM_080841.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1094,0.2017,0.0885,0.26,0.56,0.10,,0.831993(U),0.000(P),"3.92,0.87,3.95,3.92,1.08,3.92,3.95,0.78,3.95(T,T,T,T,T,T,T,T,T)",0.0000(T),0.393,2.059033,5.25,2.1,0.655000,0.659000,0.786000,0.988000,0.902000,0.997000,6.3363
missense_variant,UBOX5,MISSENSE,NM_001267584.1:p.Thr509Pro/c.1525A>C,Acc/Ccc,MODERATE,,0.215655,0.119,rs708973,,,,,,chr20,3090848,3090848,T,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr509Pro/c.1525A>C|512|UBOX5|protein_coding|CODING|NM_001267584.1|5|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg510Arg/c.1530A>C|541|UBOX5|protein_coding|CODING|NM_014948.3|5|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg456Arg/c.1368A>C|487|UBOX5|protein_coding|CODING|NM_199415.2|4|1),intron_variant(MODIFIER|||n.938-76T>G||UBOX5-AS1||NON_CODING|NR_038395.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2638,0.2666,0.3111,0.29,0.17,0.36,,,,,,,,,,,,,,,,
missense_variant,UBOX5,MISSENSE,NM_014948.3:p.Leu479Pro/c.1436T>C,cTg/cCg,MODERATE,COSM3758513(1),0.0305511,0,rs34205880,0.48(T),"0.0,0.0(B,B)",1.1(L),-1.0161(T),,chr20,3090942,3090942,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu479Pro/c.1436T>C|541|UBOX5|protein_coding|CODING|NM_014948.3|5|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu425Pro/c.1274T>C|487|UBOX5|protein_coding|CODING|NM_199415.2|4|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro477Pro/c.1431T>C|512|UBOX5|protein_coding|CODING|NM_001267584.1|5|1),non_coding_exon_variant(MODIFIER|||n.956A>G||UBOX5-AS1||NON_CODING|NR_038395.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0215,0.0461,0.0885,0.07,0.03,0.09,,0.637244(N),1.000(N),"1.53,1.51(T,T)",0.0017(T),0.048,0.246654,5.04,-6.91,-0.215000,-1.798000,-1.400000,0.460000,0.000000,0.000000,2.1064
missense_variant,FASTKD5,MISSENSE,NM_021826.4:p.Ile380Arg/c.1139T>G,aTa/aGa,MODERATE,COSM3758514(1),0.0427316,0,rs41304800,0.41(T),0.564(P),0.895(L),-1.0092(T),,chr20,3128578,3128578,A,C,het,"missense_variant(MODERATE|MISSENSE|aTa/aGa|p.Ile380Arg/c.1139T>G|764|FASTKD5|protein_coding|CODING|NM_021826.4|2|1),intron_variant(MODIFIER|||c.-42+11834T>G|512|UBOX5|protein_coding|CODING|NM_001267584.1|1|1),intron_variant(MODIFIER|||c.-42+11834T>G|541|UBOX5|protein_coding|CODING|NM_014948.3|1|1),intron_variant(MODIFIER|||c.-42+11834T>G|487|UBOX5|protein_coding|CODING|NM_199415.2|1|1),intron_variant(MODIFIER|||n.1465-2606A>C||UBOX5-AS1||NON_CODING|NR_038395.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0327,0.0663,0.1064,0.09,0.04,0.11,,0.069334(N),0.000(P),2.36(T),0.0011(T),0.191,1.724478,5.48,5.48,0.260000,2.088000,5.124000,0.559000,0.995000,0.975000,15.5604
synonymous_variant,LZTS3,SILENT,NM_001282533.1:p.Asn114Asn/c.342C>T,aaC/aaT,LOW,COSM443644(3),0.139776,0.0208,rs17853865,,,,,,chr20,3147468,3147468,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn114Asn/c.342C>T|627|LZTS3|protein_coding|CODING|NM_001282533.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2362,0.2003,0.2256,0.19,0.10,0.24,,,,,,,,,,,,,,,,
synonymous_variant,LZTS3,SILENT,NM_001282533.1:p.Ala22Ala/c.66C>T,gcC/gcT,LOW,COSM443645(2),0.00579073,0.001,rs151258888,,,,,,chr20,3147744,3147744,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala22Ala/c.66C>T|627|LZTS3|protein_coding|CODING|NM_001282533.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0,0.0086,0.0219,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,LZTS3,SILENT,NM_001282533.1:p.Asp16Asp/c.48T>C,gaT/gaC,LOW,,0.942292,0.9425,rs6051612,,,,,,chr20,3147762,3147762,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp16Asp/c.48T>C|627|LZTS3|protein_coding|CODING|NM_001282533.1|3|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.9683,0.9654,0.9801,0.95,0.89,0.98,,,,,,,,,,,,,,,,
missense_variant,DDRGK1,MISSENSE,NM_023935.1:p.Ala303Thr/c.907G>A,Gcc/Acc,MODERATE,,0.0700879,0.001,rs11591,0.26(T),0.003(B),0(N),-1.0383(T),,chr20,3171337,3171337,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala303Thr/c.907G>A|314|DDRGK1|protein_coding|CODING|NM_023935.1|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0767,0.0994,0.1968,0.14,0.04,0.18,,0.008703(N),0.000(P),0.94(T),0.0001(T),0.031,1.040633,4.98,-2.27,0.561000,-0.223000,1.072000,0.997000,0.942000,1.000000,3.4261
synonymous_variant,SLC4A11,SILENT,NM_001174090.1:p.Asn580Asn/c.1740C>T,aaC/aaT,LOW,COSM3773984(1),0.0485224,0.003,rs41281860,,,,,,chr20,3210301,3210301,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn537Asn/c.1611C>T|875|SLC4A11|protein_coding|CODING|NM_001174089.1|14|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn580Asn/c.1740C>T|918|SLC4A11|protein_coding|CODING|NM_001174090.1|14|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn553Asn/c.1659C>T|891|SLC4A11|protein_coding|CODING|NM_032034.3|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0184,0.0749,0.1471,0.09,0.04,0.12,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A11,SILENT,NM_001174090.1:p.Thr490Thr/c.1470G>A,acG/acA,LOW,,0.0451278,0.001,rs6084312,,,,,,chr20,3211235,3211235,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr447Thr/c.1341G>A|875|SLC4A11|protein_coding|CODING|NM_001174089.1|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr490Thr/c.1470G>A|918|SLC4A11|protein_coding|CODING|NM_001174090.1|12|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr463Thr/c.1389G>A|891|SLC4A11|protein_coding|CODING|NM_032034.3|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0143,0.0749,0.1352,0.09,0.04,0.12,,,,,,,,,,,,,,,,
synonymous_variant,SLC4A11,SILENT,NM_001174090.1:p.Arg188Arg/c.562A>C,Agg/Cgg,LOW,,0.479832,0.5357,rs3827075,,,,,,chr20,3214819,3214819,T,G,hom,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg145Arg/c.433A>C|875|SLC4A11|protein_coding|CODING|NM_001174089.1|5|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg188Arg/c.562A>C|918|SLC4A11|protein_coding|CODING|NM_001174090.1|5|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg161Arg/c.481A>C|891|SLC4A11|protein_coding|CODING|NM_032034.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.2894,0.4251,0.3956,0.48,0.64,0.40,,,,,,,,,,,,,,,,
missense_variant,SLC4A11,MISSENSE,NM_001174090.1:p.Arg50Gly/c.148A>G,Agg/Ggg,MODERATE,COSM1326803(1),0.0640974,0.001,rs79057061,0.39(T),0.005(B),0(N),-1.0478(T),,chr20,3218563,3218563,T,C,het,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg50Gly/c.148A>G|918|SLC4A11|protein_coding|CODING|NM_001174090.1|1|1),upstream_gene_variant(MODIFIER||190||891|SLC4A11|protein_coding|CODING|NM_032034.3||1),intron_variant(MODIFIER|||c.44-329A>G|875|SLC4A11|protein_coding|CODING|NM_001174089.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,K562:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0123,0.0648,0.1044,,,,,,1.000(P),-1.55(D),0.0095(T),0.068,0.428152,3.26,0.569,0.402000,0.414000,0.121000,0.028000,0.000000,0.001000,3.4068
missense_variant,SLC4A11,MISSENSE,NM_001174090.1:p.Pro26Arg/c.77C>G,cCg/cGg,MODERATE,COSM330384(4),0.641573,0.6766,rs3810562,0.66(T),0.0(B),0(N),-0.9681(T),,chr20,3218634,3218634,G,C,hom,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro26Arg/c.77C>G|918|SLC4A11|protein_coding|CODING|NM_001174090.1|1|1),upstream_gene_variant(MODIFIER||261||891|SLC4A11|protein_coding|CODING|NM_032034.3||1),intron_variant(MODIFIER|||c.44-400C>G|875|SLC4A11|protein_coding|CODING|NM_001174089.1|1|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,K562:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4693,0.5807,0.5795,,,,,,1.000(P),-1.43(T),0.0000(T),0.058,-0.163983,3.5,-1.98,-1.307000,-0.398000,-0.858000,0.025000,0.000000,0.000000,4.6723
synonymous_variant,C20orf194,SILENT,NM_001009984.2:p.Tyr641Tyr/c.1923C>T,taC/taT,LOW,,0.0135783,0,rs41281886,,,,,,chr20,3278682,3278682,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr641Tyr/c.1923C>T|1177|C20orf194|protein_coding|CODING|NM_001009984.2|22|1),"GM06990:H3K27me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0419,0.0115,0.0179,0.02,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,C20orf194,SILENT,NM_001009984.2:p.Ile581Ile/c.1743T>A,atT/atA,LOW,COSM4001884(1),0.255391,0.3492,rs2254916,,,,,,chr20,3285126,3285126,A,T,het,synonymous_variant(LOW|SILENT|atT/atA|p.Ile581Ile/c.1743T>A|1177|C20orf194|protein_coding|CODING|NM_001009984.2|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2178,0.3184,0.2505,0.24,0.17,0.27,,,,,,,,,,,,,,,,
missense_variant,C20orf194,MISSENSE,NM_001009984.2:p.Arg577Gly/c.1729A>G,Aga/Gga,MODERATE,,0.933706,1,rs2422864,1(T),0.0(B),-2.175(N),-0.9569(T),,chr20,3285140,3285140,T,C,hom,missense_variant(MODERATE|MISSENSE|Aga/Gga|p.Arg577Gly/c.1729A>G|1177|C20orf194|protein_coding|CODING|NM_001009984.2|21|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.9274,0.9294,0.8579,0.88,0.95,0.85,,0.000001(N),1.000(P),"2.81,2.16(T,T)",0.0000(T),0.128,0.533036,5.66,5.66,-0.320000,1.393000,3.056000,0.978000,1.000000,1.000000,12.0952
synonymous_variant,ATRN,SILENT,NM_139321.2:p.Val145Val/c.435G>A,gtG/gtA,LOW,,0.191693,0.0169,rs151518,,,,,,chr20,3515924,3515924,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val29Val/c.87G>A|1156|ATRN|protein_coding|CODING|NM_001207047.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val145Val/c.435G>A|1429|ATRN|protein_coding|CODING|NM_139321.2|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val145Val/c.435G>A|1272|ATRN|protein_coding|CODING|NM_139322.2|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0838,0.1945,0.2873,0.29,0.32,0.27,,,,,,,,,,,,,,,,
synonymous_variant,ATRN,SILENT,NM_139321.2:p.Tyr154Tyr/c.462C>T,taC/taT,LOW,,0.192093,0.0169,rs151519,,,,,,chr20,3515951,3515951,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr38Tyr/c.114C>T|1156|ATRN|protein_coding|CODING|NM_001207047.1|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr154Tyr/c.462C>T|1429|ATRN|protein_coding|CODING|NM_139321.2|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr154Tyr/c.462C>T|1272|ATRN|protein_coding|CODING|NM_139322.2|2|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0838,0.1945,0.2893,0.29,0.32,0.28,,,,,,,,,,,,,,,,
missense_variant,ATRN,MISSENSE,NM_139321.2:p.Ile426Thr/c.1277T>C,aTt/aCt,MODERATE,,0.0175719,0,rs17782078,0.22(T),"0.05,0.037(B,B)",0.585(N),-0.9728(T),,chr20,3541382,3541382,T,C,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile310Thr/c.929T>C|1156|ATRN|protein_coding|CODING|NM_001207047.1|8|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile426Thr/c.1277T>C|1429|ATRN|protein_coding|CODING|NM_139321.2|8|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile426Thr/c.1277T>C|1272|ATRN|protein_coding|CODING|NM_139322.2|8|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0102,0.0288,0.0577,0.04,0.01,0.06,,0.000009(D),1.000(D),"-0.78,-0.17(T,T)",0.0375(T),0.192,1.851224,4.99,4.99,0.454000,2.095000,5.843000,0.973000,1.000000,1.000000,14.5033
synonymous_variant,ATRN,SILENT,NM_139321.2:p.Tyr964Tyr/c.2892C>T,taC/taT,LOW,,0.824481,0.999,rs235540,,,,,,chr20,3564672,3564672,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr848Tyr/c.2544C>T|1156|ATRN|protein_coding|CODING|NM_001207047.1|17|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr964Tyr/c.2892C>T|1429|ATRN|protein_coding|CODING|NM_139321.2|17|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr964Tyr/c.2892C>T|1272|ATRN|protein_coding|CODING|NM_139322.2|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9172,0.8141,0.7187,0.73,0.72,0.74,,,,,,,,,,,,,,,,
missense_variant,ATRN,MISSENSE,NM_139321.2:p.Arg1152Lys/c.3455G>A,aGa/aAa,MODERATE,,0.0177716,0,rs3886999,0.76(T),"0.001,0.0(B,B)",0.7(N),-1.0291(T),,chr20,3577062,3577062,G,A,het,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg1036Lys/c.3107G>A|1156|ATRN|protein_coding|CODING|NM_001207047.1|21|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg1152Lys/c.3455G>A|1429|ATRN|protein_coding|CODING|NM_139321.2|21|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg1152Lys/c.3455G>A|1272|ATRN|protein_coding|CODING|NM_139322.2|21|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0102,0.0288,0.0577,0.04,0.01,0.06,,0.000000(N),1.000(N),"1.47,1.47(T,T)",0.0062(T),0.084,1.122453,5.97,5.97,-0.332000,1.090000,5.806000,0.986000,1.000000,1.000000,11.941
synonymous_variant,ATRN,SILENT,NM_139321.2:p.Pro1360Pro/c.4080G>A,ccG/ccA,LOW,COSM4134511(1),0.382588,0.1964,rs2246808,,,,,,chr20,3624830,3624830,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1360Pro/c.4080G>A|1429|ATRN|protein_coding|CODING|NM_139321.2|28|1),"HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2986,0.3718,0.3917,0.45,0.53,0.41,,,,,,,,,,,,,,,,
synonymous_variant,GFRA4,SILENT,NM_145762.2:p.Pro267Pro/c.801G>A,ccG/ccA,LOW,COSM443772(2),0.379393,0.4117,rs2853208,,,,,,chr20,3640823,3640823,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro237Pro/c.711G>A|269|GFRA4|protein_coding|CODING|NM_022139.3|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro267Pro/c.801G>A|299|GFRA4|protein_coding|CODING|NM_145762.2|4|1)","HepG2:H3K4me2,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.5337,0.5303,0.5258,0.39,0.14,0.51,,,,,,,,,,,,,,,,
synonymous_variant,ADAM33,SILENT,NM_025220.3:p.Gly717Gly/c.2151G>C,ggG/ggC,LOW,COSM3758551(2),0.38778,0.25,rs528557,,,,,,chr20,3651742,3651742,C,G,het,"synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly717Gly/c.2151G>C|812|ADAM33|protein_coding|CODING|NM_001282447.1|19|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly717Gly/c.2151G>C|813|ADAM33|protein_coding|CODING|NM_025220.3|19|1),synonymous_variant(LOW|SILENT|ggG/ggC|p.Gly691Gly/c.2073G>C|787|ADAM33|protein_coding|CODING|NM_153202.2|18|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.362,0.1988,0.2744,0.39,0.63,0.27,,,,,,,,,,,,,,,,
synonymous_variant,ADAM33,SILENT,NM_025220.3:p.Gly288Gly/c.864G>A,ggG/ggA,LOW,,0.275359,0.2212,rs2271511,,,,,,chr20,3654433,3654433,C,T,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly288Gly/c.864G>A|812|ADAM33|protein_coding|CODING|NM_001282447.1|9|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly288Gly/c.864G>A|813|ADAM33|protein_coding|CODING|NM_025220.3|9|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly288Gly/c.864G>A|787|ADAM33|protein_coding|CODING|NM_153202.2|9|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3098,0.1354,0.1869,0.21,0.33,0.15,,,,,,,,,,,,,,,,
missense_variant,ADAM33,MISSENSE,NM_025220.3:p.Thr178Ala/c.532A>G,Acc/Gcc,MODERATE,,0.066893,0.0913,rs3918392,0.49(T),"0.001,0.001,0.0,0.0(B,B,B,B)",-0.55(N),-0.9526(T),,chr20,3655219,3655219,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr178Ala/c.532A>G|812|ADAM33|protein_coding|CODING|NM_001282447.1|6|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr178Ala/c.532A>G|813|ADAM33|protein_coding|CODING|NM_025220.3|6|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr178Ala/c.532A>G|787|ADAM33|protein_coding|CODING|NM_153202.2|6|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.0573,0.0418,0.0348,0.05,0.08,0.03,,,0.999(P),"4.78,4.78,4.8(T,T,T)",0.0001(T),0.025,-0.434985,4.98,2.02,-0.119000,0.403000,-0.059000,0.220000,0.916000,0.003000,6.7313
synonymous_variant,SIGLEC1,SILENT,NM_023068.3:p.Asp1348Asp/c.4044C>T,gaC/gaT,LOW,COSM3758555(2),0.380391,0.4038,rs910653,,,,-1.1010(T),,chr20,3672836,3672836,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1348Asp/c.4044C>T|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|16|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.498,0.5043,0.3479,0.33,0.25,0.36,,,0.999(P),,0.0000(T),.,-1.649729,5.2,-10.3,-2.052000,-2.116000,-1.909000,0.001000,0.000000,0.000000,16.1564
missense_variant,SIGLEC1,MISSENSE,NM_023068.3:p.Ala974Val/c.2921C>T,gCa/gTa,MODERATE,,0.584864,0.7629,rs3746638,0.57(T),"0.114,0.132(B,B)",2.03(M),-1.1147(T),,chr20,3675333,3675333,G,A,het,missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala974Val/c.2921C>T|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|11|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6769,0.5965,0.492,0.49,0.45,0.51,,0.122542(N),0.998(P),"3.87,3.87(T,T)",0.0000(T),0.099,1.144601,4.61,2.64,0.561000,0.566000,1.567000,0.288000,0.243000,0.922000,9.0695
missense_variant,SIGLEC1,MISSENSE,NM_023068.3:p.His919Pro/c.2756A>C,cAc/cCc,MODERATE,,0.741414,0.869,rs709012,1(T),"0.0,0.0(B,B)",-0.905(N),-0.9932(T),,chr20,3675498,3675498,T,G,het,missense_variant(MODERATE|MISSENSE|cAc/cCc|p.His919Pro/c.2756A>C|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|11|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.728,0.6715,0.5984,0.67,0.77,0.62,,0.001419(N),1.000(P),"2.82,2.82(T,T)",0.0000(T),0.096,-0.140367,4.79,4.79,-0.121000,1.269000,3.709000,0.908000,0.930000,0.985000,12.3356
synonymous_variant,SIGLEC1,SILENT,NM_023068.3:p.Lys853Lys/c.2559A>G,aaA/aaG,LOW,COSM4134519(1),0.994409,1,rs501538,,,,,,chr20,3677357,3677357,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys853Lys/c.2559A>G|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|10|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9918,0.9942,0.9851,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,SIGLEC1,SILENT,NM_023068.3:p.Val792Val/c.2376A>C,gtA/gtC,LOW,COSM4134520(2),0.717652,0.7708,rs673114,,,,,,chr20,3677736,3677736,T,G,het,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val792Val/c.2376A>C|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|9|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.6892,0.6729,0.5805,0.66,0.77,0.61,,,,,,,,,,,,,,,,
synonymous_variant,SIGLEC1,SILENT,NM_023068.3:p.Ser502Ser/c.1506C>T,tcC/tcT,LOW,COSM330386(1),0.715855,0.7619,rs1018493,,,,,,chr20,3682011,3682011,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser502Ser/c.1506C>T|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|6|1),"GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.7495,0.6758,0.5795,0.65,0.74,0.60,,,,,,,,,,,,,,,,
synonymous_variant,SIGLEC1,SILENT,NM_023068.3:p.Ser456Ser/c.1368C>T,tcC/tcT,LOW,,0.276358,0.2123,rs13037869,,,,,,chr20,3682149,3682149,G,A,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser456Ser/c.1368C>T|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|6|1),"GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4213,0.3804,0.3529,0.29,0.14,0.37,,,,,,,,,,,,,,,,
synonymous_variant,SIGLEC1,SILENT,NM_023068.3:p.Thr414Thr/c.1242T>C,acT/acC,LOW,COSM4134522(1),0.716054,0.7629,rs1018492,,,,,,chr20,3682275,3682275,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr414Thr/c.1242T>C|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|6|1),"GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7495,0.6758,0.5795,0.65,0.74,0.60,,,,,,,,,,,,,,,,
synonymous_variant,SIGLEC1,SILENT,NM_023068.3:p.Asn350Asn/c.1050T>C,aaT/aaC,LOW,,0.616813,0.6815,rs386601617,,,,,,chr20,3684022,3684022,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn350Asn/c.1050T>C|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|5|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6063,0.572,0.6292,0.62,0.57,0.65,,,,,,,,,,,,,,,,
missense_variant,SIGLEC1,MISSENSE,NM_023068.3:p.Lys239Arg/c.716A>G,aAg/aGg,MODERATE,,0.61242,0.6766,rs625372,0.48(T),"0.034,0.022,0.05(B,B,B)",1.325(L),-0.9888(T),,chr20,3684729,3684729,T,C,het,missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys239Arg/c.716A>G|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|4|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6022,0.572,0.6302,0.62,0.56,0.64,,0.285619(N),1.000(P),"2.44,2.44(T,T)",0.0000(T),0.016,1.257156,5.16,-3.18,-0.408000,-0.567000,-0.016000,0.877000,0.112000,0.010000,11.6858
missense_variant,SIGLEC1,MISSENSE,NM_023068.3:p.Val221Met/c.661G>A,Gtg/Atg,MODERATE,COSM4134524(1),0.690895,0.747,rs6037651,0.23(T),"0.03,0.086,0.051(B,B,B)",0.41(N),-0.9665(T),,chr20,3686436,3686436,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val221Met/c.661G>A|1709|SIGLEC1|protein_coding|CODING|NM_023068.3|3|1),"GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7658,0.5865,0.5726,0.63,0.71,0.59,,0.222010(N),1.000(P),"-2.09,-2.09(D,D)",0.0000(T),0.053,0.883473,4.68,0.33,-0.448000,-0.069000,-0.625000,0.025000,0.003000,0.000000,4.3209
synonymous_variant,HSPA12B,SILENT,NM_052970.4:p.Cys627Cys/c.1881C>T,tgC/tgT,LOW,COSM3749701(19),0.589856,0.6121,rs541760,,,,,,chr20,3732633,3732633,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys626Cys/c.1878C>T|685|HSPA12B|protein_coding|CODING|NM_001197327.1|13|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys627Cys/c.1881C>T|686|HSPA12B|protein_coding|CODING|NM_052970.4|13|1),downstream_gene_variant(MODIFIER||1513||199|C20orf27|protein_coding|CODING|NM_001039140.2||1),downstream_gene_variant(MODIFIER||1513||174|C20orf27|protein_coding|CODING|NM_001258429.1||1),downstream_gene_variant(MODIFIER||1513||174|C20orf27|protein_coding|CODING|NM_001258430.1||1),downstream_gene_variant(MODIFIER||1513|||C20orf27||CODING|NR_047675.1||1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:DNase1",,,,0.636,0.6499,0.5626,0.61,0.58,0.63,,,,,,,,,,,,,,,,
missense_variant,MAVS,MISSENSE,NM_020746.4:p.Gln198Lys/c.592C>A,Cag/Aag,MODERATE,COSM3758566(1),0.155551,0.0952,rs7262903,0.77(T),0.78(P),1.65(L),-1.0612(T),,chr20,3843027,3843027,C,A,het,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln57Lys/c.169C>A|399|MAVS|protein_coding|CODING|NM_001206491.1|4|1),missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln198Lys/c.592C>A|540|MAVS|protein_coding|CODING|NM_020746.4|5|1),non_coding_exon_variant(MODIFIER|||n.591C>A||MAVS||CODING|NR_037921.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.184,0.1052,0.1561,0.17,0.19,0.16,,0.729013(N),1.000(P),"1.35,2.41(T,T)",0.0001(T),0.083,3.572603,4.16,1.06,0.655000,0.263000,0.217000,0.360000,0.137000,0.953000,4.8663
missense_variant,MAVS,MISSENSE,NM_020746.4:p.Ser409Phe/c.1226C>T,tCt/tTt,MODERATE,COSM3758567(1),0.212061,0.0883,rs7269320,0.13(T),0.925(D),1.65(L),-1.0387(T),,chr20,3846397,3846397,C,T,het,"missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser268Phe/c.803C>T|399|MAVS|protein_coding|CODING|NM_001206491.1|6|1),missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser409Phe/c.1226C>T|540|MAVS|protein_coding|CODING|NM_020746.4|7|1),non_coding_exon_variant(MODIFIER|||n.1225C>T||MAVS||CODING|NR_037921.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.184,0.1268,0.159,0.23,0.36,0.16,,0.000001(N),1.000(P),"1.24,2.25(T,T)",0.0000(T),0.212,2.101712,3.35,0.169,0.655000,0.073000,-0.229000,0.055000,0.000000,0.000000,3.8256
missense_variant,PANK2,MISSENSE,NM_153638.2:p.Gly126Ala/c.377G>C,gGg/gCg,MODERATE,COSM4134538(3),0.879193,0.7946,rs3737084,1(T),0.0(B),0(N),-0.9501(T),,chr20,3870124,3870124,G,C,hom,"missense_variant(MODERATE|MISSENSE|gGg/gCg|p.Gly126Ala/c.377G>C|570|PANK2|protein_coding|CODING|NM_153638.2|1|1),upstream_gene_variant(MODIFIER||339||279|PANK2|protein_coding|CODING|NM_153640.2||1),intron_variant(MODIFIER|||c.-246+573G>C|279|PANK2|protein_coding|CODING|NM_024960.4|1|1)","H1ESC:PolII,NHEK:H3K9ac,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:Nrsf,K562:SP2,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,HMEC:CTCF,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:TAF1,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,H1ESC:CTCF",,RCV000082679.1,,0.7771,0.9323,0.8757,0.94,0.98,0.92,,0.199120(N),0.000(P),-3.96(D),0.0000(T),0.044,0.905209,4.73,4.73,-0.164000,1.369000,1.019000,0.991000,0.990000,0.994000,11.198
synonymous_variant,SMOX,SILENT,NM_001270691.1:p.Ala392Ala/c.1176A>G,gcA/gcG,LOW,,0.509385,0.4345,rs1051904,,,,,,chr20,4163302,4163302,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala392Ala/c.1176A>G|585|SMOX|protein_coding|CODING|NM_001270691.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala392Ala/c.1176A>G|555|SMOX|protein_coding|CODING|NM_175839.2|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala339Ala/c.1017A>G|502|SMOX|protein_coding|CODING|NM_175840.2|6|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala339Ala/c.1017A>G|532|SMOX|protein_coding|CODING|NM_175842.2|6|1),intron_variant(MODIFIER|||c.436-4615A>G|190|SMOX|protein_coding|CODING|NM_175841.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4427,0.6023,0.67,0.61,0.49,0.67,,,,,,,,,,,,,,,,
synonymous_variant,SMOX,SILENT,NM_001270691.1:p.Thr504Thr/c.1512A>G,acA/acG,LOW,COSM3723658(1),0.694489,0.7192,rs1741327,,,,,,chr20,4164283,4164283,A,G,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr504Thr/c.1512A>G|585|SMOX|protein_coding|CODING|NM_001270691.1|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr504Thr/c.1512A>G|555|SMOX|protein_coding|CODING|NM_175839.2|6|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr451Thr/c.1353A>G|502|SMOX|protein_coding|CODING|NM_175840.2|7|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr451Thr/c.1353A>G|532|SMOX|protein_coding|CODING|NM_175842.2|7|1),intron_variant(MODIFIER|||c.436-3634A>G|190|SMOX|protein_coding|CODING|NM_175841.2|3|1)","HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5153,0.7219,0.6889,0.73,0.79,0.69,,,,,,,,,,,,,,,,
missense_variant,PRNP,MISSENSE,NM_000311.3:p.Met129Val/c.385A>G,Atg/Gtg,MODERATE,COSM42856(6),0.266573,0.0248,rs1799990,0.02(D),"0.012,0.036,0.04(B,B,B)",1.5(L),-1.0933(T),,chr20,4680251,4680251,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met129Val/c.385A>G|253|PRNP|protein_coding|CODING|NM_000311.3|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met129Val/c.385A>G|253|PRNP|protein_coding|CODING|NM_001080123.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met129Val/c.385A>G|253|PRNP|protein_coding|CODING|NM_183079.2|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met129Val/c.385A>G|253|PRNP|protein_coding|CODING|NM_001080121.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met129Val/c.385A>G|253|PRNP|protein_coding|CODING|NM_001080122.1|2|1),3_prime_UTR_variant(MODIFIER||74|c.*74A>G|73|PRNP|protein_coding|CODING|NM_001271561.1|2|1)","H1ESC:H3K36me3,NHEK:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3","Prion_diseases,Creutzfeldt_Jakob_disease",RCV000014331.3|RCV000014332.3|RCV000014333.3|RCV000014336.22|RCV000014337.23|RCV000020244.1|RCV000118064.2,,0.2403,0.4063,0.325,0.34,0.34,0.34,,0.001589(N),0.184(P),"-2.95,-2.95,-2.95,-1.42(D,D,D,T)",0.0000(T),0.68,1.778679,5.3,2.93,0.533000,0.281000,0.521000,0.996000,1.000000,0.998000,5.8372
synonymous_variant,SLC23A2,SILENT,NM_005116.5:p.Ala125Ala/c.375C>T,gcC/gcT,LOW,,0.450479,0.5446,rs1776964,,,,,,chr20,4880308,4880308,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala125Ala/c.375C>T|650|SLC23A2|protein_coding|CODING|NM_005116.5|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala125Ala/c.375C>T|650|SLC23A2|protein_coding|CODING|NM_203327.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4775,0.4236,0.4622,0.43,0.39,0.46,,,,,,,,,,,,,,,,
synonymous_variant,PROKR2,SILENT,NM_144773.2:p.Thr195Thr/c.585G>C,acG/acC,LOW,COSM3758645(2),0.723243,0.6627,rs3746682,,,,,,chr20,5283256,5283256,C,G,hom,synonymous_variant(LOW|SILENT|acG/acC|p.Thr195Thr/c.585G>C|384|PROKR2|protein_coding|CODING|NM_144773.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7669,0.745,0.7505,0.74,0.72,0.74,,,,,,,,,,,,,,,,
synonymous_variant,PROKR2,SILENT,NM_144773.2:p.Leu155Leu/c.465C>T,ctC/ctT,LOW,,0.446486,0.504,rs3746684,,,,,,chr20,5283376,5283376,G,A,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu155Leu/c.465C>T|384|PROKR2|protein_coding|CODING|NM_144773.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4509,0.4222,0.3738,0.41,0.46,0.38,,,,,,,,,,,,,,,,
missense_variant,C20orf196,MISSENSE,NM_152504.2:p.Ala23Val/c.68C>T,gCg/gTg,MODERATE,COSM149133(2),0.234026,0.1518,rs237422,0.96(T),0.005(B),-0.205(N),-0.9498(T),,chr20,5753579,5753579,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala23Val/c.68C>T|205|C20orf196|protein_coding|CODING|NM_152504.2|2|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1963,0.2507,0.2604,0.27,0.27,0.28,,0.840298(N),1.000(P),"1.24,1.24,1.24,1.24(T,T,T,T)",0.0000(T),0.068,-2.095195,5.81,1.73,-1.761000,-0.095000,0.551000,0.008000,0.000000,0.000000,10.1005
missense_variant,CHGB,MISSENSE,NM_001819.2:p.Arg178Gln/c.533G>A,cGa/cAa,MODERATE,,0.416534,0.5288,rs910122,0.46(T),0.001(B),1.1(L),-0.9024(T),,chr20,5903323,5903323,G,A,hom,missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg178Gln/c.533G>A|677|CHGB|protein_coding|CODING|NM_001819.2|4|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4734,0.4942,0.3489,0.35,0.34,0.36,,0.159015(N),1.000(P),"4.62,4.62(T,T)",0.0000(T),0.182,0.195656,5.57,-11.1,-2.619000,-4.738000,-1.898000,0.002000,0.000000,0.000000,1.6706
missense_variant,CHGB,MISSENSE,NM_001819.2:p.Asn200His/c.598A>C,Aat/Cat,MODERATE,COSM3758669(1),0.164337,0.1498,rs881118,0.02(D),0.049(B),2.075(M),-0.9274(T),,chr20,5903388,5903388,A,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn200His/c.598A>C|677|CHGB|protein_coding|CODING|NM_001819.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1963,0.2161,0.0348,0.09,0.20,0.04,,0.676713(N),1.000(P),"4.4,4.4(T,T)",0.0000(T),0.076,2.838446,5.27,-1.66,0.460000,-0.284000,0.745000,0.012000,0.000000,0.016000,1.9737
missense_variant,CHGB,MISSENSE,NM_001819.2:p.Thr243Ala/c.727A>G,Aca/Gca,MODERATE,,0.86861,0.997,rs236151,0.56(T),0.002(B),1.245(L),-1.0250(T),,chr20,5903517,5903517,A,G,hom,missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr243Ala/c.727A>G|677|CHGB|protein_coding|CODING|NM_001819.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7904,0.83,0.7614,0.80,0.91,0.74,,0.056050(N),1.000(P),"4.62,4.62(T,T)",0.0000(T),0.106,0.187394,5.57,-3.85,-1.309000,-1.215000,-0.357000,0.391000,0.000000,0.000000,3.4692
missense_variant,CHGB,MISSENSE,NM_001819.2:p.Ala353Gly/c.1058C>G,gCc/gGc,MODERATE,COSM4001966(1),0.515375,0.5288,rs236152,0.69(T),0.001(B),1.01(L),-0.9970(T),,chr20,5903848,5903848,C,G,hom,missense_variant(MODERATE|MISSENSE|gCc/gGc|p.Ala353Gly/c.1058C>G|677|CHGB|protein_coding|CODING|NM_001819.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4744,0.5231,0.3499,0.45,0.62,0.36,,0.432199(N),1.000(P),3.42(T),0.0000(T),0.04,-0.864782,5.27,-1.14,-0.261000,-0.043000,-0.447000,0.003000,0.000000,0.000000,4.5883
synonymous_variant,CHGB,SILENT,NM_001819.2:p.Glu368Glu/c.1104A>G,gaA/gaG,LOW,COSM4001967(2),0.515176,0.5288,rs236153,,,,,,chr20,5903894,5903894,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu368Glu/c.1104A>G|677|CHGB|protein_coding|CODING|NM_001819.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4734,0.5231,0.3499,0.45,0.62,0.36,,,,,,,,,,,,,,,,
missense_variant,CHGB,MISSENSE,NM_001819.2:p.Pro413Leu/c.1238C>T,cCg/cTg,MODERATE,COSM3758670(1),0.17492,0.1498,rs742710,0.22(T),0.0(B),0(N),-0.9105(T),,chr20,5904028,5904028,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro413Leu/c.1238C>T|677|CHGB|protein_coding|CODING|NM_001819.2|4|1),"HUVEC:H3K27me3,GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1963,0.219,0.0348,0.11,0.23,0.04,,0.044237(N),1.000(P),4.76(T),0.0000(T),0.014,-0.265280,5.4,-6.05,-0.769000,-1.014000,-0.501000,0.001000,0.000000,0.000000,1.4448
synonymous_variant,FERMT1,SILENT,NM_017671.4:p.Phe565Phe/c.1695T>C,ttT/ttC,LOW,,0.395767,0.6161,rs753927,,,,,,chr20,6064710,6064710,A,G,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe565Phe/c.1695T>C|677|FERMT1|protein_coding|CODING|NM_017671.4|13|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2822,0.4568,0.3588,0.36,0.35,0.36,,,,,,,,,,,,,,,,
missense_variant,FERMT1,MISSENSE,NM_017671.4:p.Arg526Lys/c.1577G>A,aGa/aAa,MODERATE,,0.457069,0.6409,rs2232074,1(T),0.0(B),-2.67(N),-0.9146(T),,chr20,6065729,6065729,C,T,hom,missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg526Lys/c.1577G>A|677|FERMT1|protein_coding|CODING|NM_017671.4|12|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3344,0.4784,0.3797,0.06,0.08,0.05,,0.000000(N),0.698(P),"-0.81,-0.81(T,T)",0.0000(T),0.054,0.374774,5.17,5.17,-0.376000,0.905000,6.256000,0.516000,0.946000,1.000000,11.2802
synonymous_variant,FERMT1,SILENT,NM_017671.4:p.Lys525Lys/c.1575A>G,aaA/aaG,LOW,,0.457069,0.6409,rs2232073,,,,,,chr20,6065731,6065731,T,C,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys525Lys/c.1575A>G|677|FERMT1|protein_coding|CODING|NM_017671.4|12|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3344,0.4784,0.3797,0.07,0.09,0.05,,,,,,,,,,,,,,,,
synonymous_variant,FERMT1,SILENT,NM_017671.4:p.Leu385Leu/c.1153C>T,Cta/Tta,LOW,COSM3758684(2),0.0317492,0,rs35413391,,,,,,chr20,6069723,6069723,G,A,hom,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu385Leu/c.1153C>T|677|FERMT1|protein_coding|CODING|NM_017671.4|10|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0194,0.0749,0.0825,0.06,0.01,0.08,,,,,,,,,,,,,,,,
synonymous_variant,FERMT1,SILENT,NM_017671.4:p.His38His/c.114T>C,caT/caC,LOW,,0.524561,0.377,rs10373,,,,,,chr20,6100088,6100088,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His38His/c.114T>C|677|FERMT1|protein_coding|CODING|NM_017671.4|2|1),"H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6503,0.4928,0.5616,0.53,0.53,0.53,,,,,,,,,,,,,,,,
synonymous_variant,BMP2,SILENT,NM_001200.2:p.Ser87Ser/c.261A>G,tcA/tcG,LOW,COSM444257(4),0.746006,0.8433,rs1049007,,,,,,chr20,6751034,6751034,A,G,het,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser87Ser/c.261A>G|396|BMP2|protein_coding|CODING|NM_001200.2|2|1),"NHEK:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:H3K4me2,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HSMM:H3K27me3,HMEC:H3K4me3",,,,0.5777,0.7291,0.6262,0.71,0.86,0.63,,,,,,,,,,,,,,,,
missense_variant,BMP2,MISSENSE,NM_001200.2:p.Arg190Ser/c.570A>T,agA/agT,MODERATE,COSM4134823(1),0.766773,0.8284,rs235768,0.01(D),0.871(P),2.855(M),-1.0442(T),,chr20,6759115,6759115,A,T,het,missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg190Ser/c.570A>T|396|BMP2|protein_coding|CODING|NM_001200.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3",,,,0.59,0.7291,0.6223,0.73,0.93,0.63,,0.000000(D),0.000(P),-0.45(T),0.0000(T),0.329,2.955336,5.72,5.72,0.524000,2.319000,4.861000,0.995000,1.000000,1.000000,16.3625
synonymous_variant,TMX4,SILENT,NM_021156.2:p.Val190Val/c.570C>G,gtC/gtG,LOW,COSM3758794(1),0.0694888,0.0437,rs17425725,,,,,,chr20,7967980,7967980,G,C,het,synonymous_variant(LOW|SILENT|gtC/gtG|p.Val190Val/c.570C>G|349|TMX4|protein_coding|CODING|NM_021156.2|6|1),"HMEC:H3K36me3,HepG2:H3K36me3",,,,0.1074,0.0706,0.1461,0.11,0.03,0.15,,,,,,,,,,,,,,,,
synonymous_variant,TMX4,SILENT,NM_021156.2:p.Pro152Pro/c.456G>A,ccG/ccA,LOW,COSM3758795(1),0.350639,0.3562,rs1012891,,,,,,chr20,7980390,7980390,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro152Pro/c.456G>A|349|TMX4|protein_coding|CODING|NM_021156.2|4|1),"GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HepG2:H3K36me3",,,,0.5481,0.2939,0.3111,0.29,0.27,0.29,,,,,,,,,,,,,,,,
synonymous_variant,PLCB1,SILENT,NM_015192.3:p.Ala855Ala/c.2565G>A,gcG/gcA,LOW,COSM4001979(1),0.21226,0.13,rs2076413,,,,,,chr20,8737734,8737734,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala855Ala/c.2565G>A|1216|PLCB1|protein_coding|CODING|NM_015192.3|24|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala855Ala/c.2565G>A|1173|PLCB1|protein_coding|CODING|NM_182734.2|24|1)","HUVEC:H3K36me3,IMR90:H3K4me1,HepG2:H3K36me3",,RCV000117928.1,,0.3354,0.2219,0.3022,0.25,0.13,0.31,,,,,,,,,,,,,,,,
synonymous_variant,PLCB1,SILENT,NM_015192.3:p.Ala996Ala/c.2988T>C,gcT/gcC,LOW,COSM1130575(3),0.613219,0.4613,rs2235613,,,,,,chr20,8755243,8755243,T,C,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala996Ala/c.2988T>C|1216|PLCB1|protein_coding|CODING|NM_015192.3|27|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala996Ala/c.2988T>C|1173|PLCB1|protein_coding|CODING|NM_182734.2|27|1)","HSMM:DNase1,HepG2:H3K36me3",,RCV000117930.1,,0.7843,0.4986,0.6481,0.64,0.63,0.64,,,,,,,,,,,,,,,,
missense_variant,PLCB4,MISSENSE,NM_000933.3:p.Ala21Thr/c.61G>A,Gca/Aca,MODERATE,,0.471446,0.4692,rs6077510,1(T),"0.083,0.956,0.546(B,D,P)",1.185(L),-1.0750(T),,chr20,9288522,9288522,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala21Thr/c.61G>A|1194|PLCB4|protein_coding|CODING|NM_000933.3|1|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala21Thr/c.61G>A|1187|PLCB4|protein_coding|CODING|NM_001172646.1|3|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala21Thr/c.61G>A|1175|PLCB4|protein_coding|CODING|NM_182797.2|2|1)",HSMM:H3K36me3,,,,0.6462,0.5922,0.6819,0.52,0.21,0.67,,0.000000(D),0.000(P),"0.96,0.96,0.96,0.96,0.96,0.96,0.96,0.96,0.96(T,T,T,T,T,T,T,T,T)",0.0000(T),0.403,2.085975,5.86,5.86,0.650000,2.781000,7.072000,0.996000,1.000000,1.000000,18.9701
missense_variant,LAMP5,MISSENSE,NM_012261.3:p.Gln103Glu/c.307C>G,Cag/Gag,MODERATE,COSM1413351(1),0.246406,0.131,rs2232264,,0.0(B),-0.895(N),-0.9336(T),,chr20,9496716,9496716,C,G,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln103Glu/c.307C>G|280|LAMP5|protein_coding|CODING|NM_012261.3|3|1),upstream_gene_variant(MODIFIER||1071|||LAMP5-AS1||NON_CODING|NR_109957.1||1),intron_variant(MODIFIER|||c.238-187C>G|236|LAMP5|protein_coding|CODING|NM_001199897.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.0828,0.2003,0.1382,0.29,0.52,0.17,,0.000000(N),0.000(P),1.51(T),0.0000(T),0.066,0.308768,6.01,6.01,-0.120000,1.573000,6.363000,0.934000,0.999000,1.000000,17.5415
synonymous_variant,PAK7,SILENT,NM_020341.3:p.Ile709Ile/c.2127C>T,atC/atT,LOW,,0.0429313,0,rs12329540,,,,,,chr20,9520142,9520142,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile709Ile/c.2127C>T|719|PAK7|protein_coding|CODING|NM_020341.3|11|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile709Ile/c.2127C>T|719|PAK7|protein_coding|CODING|NM_177990.2|10|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.0297,0.0735,0.1322,0.12,0.03,0.16,,,,,,,,,,,,,,,,
synonymous_variant,PAK7,SILENT,NM_020341.3:p.Leu490Leu/c.1468C>T,Ctg/Ttg,LOW,,0.0802716,0.25,rs6133723,,,,,,chr20,9546554,9546554,G,A,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu490Leu/c.1468C>T|719|PAK7|protein_coding|CODING|NM_020341.3|6|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu490Leu/c.1468C>T|719|PAK7|protein_coding|CODING|NM_177990.2|5|1)","HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0736,0.0231,0.0388,0.05,0.03,0.05,,,,,,,,,,,,,,,,
synonymous_variant,ANKEF1,SILENT,NM_022096.4:p.Gly48Gly/c.144A>G,ggA/ggG,LOW,COSM4001809(1),0.565495,0.3145,rs386479740,,,,,,chr20,10019093,10019093,A,G,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly48Gly/c.144A>G|776|ANKEF1|protein_coding|CODING|NM_022096.4|3|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly48Gly/c.144A>G|776|ANKEF1|protein_coding|CODING|NM_198798.1|2|1),intron_variant(MODIFIER|||n.500-11797T>C||SNAP25-AS1||NON_CODING|NR_040710.1|3|1)","H1ESC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5624,0.5245,0.6024,0.64,0.72,0.61,,,,,,,,,,,,,,,,
synonymous_variant,JAG1,SILENT,NM_000214.2:p.Tyr1139Tyr/c.3417T>C,taT/taC,LOW,COSM149140(2),0.71266,0.494,rs1051419,,,,,,chr20,10620386,10620386,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr1139Tyr/c.3417T>C|1218|JAG1|protein_coding|CODING|NM_000214.2|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.7689,0.6326,0.6481,0.73,0.90,0.64,,,,,,,,,,,,,,,,
missense_variant,JAG1,MISSENSE,NM_000214.2:p.Pro871Arg/c.2612C>G,cCa/cGa,MODERATE,,0.0529153,0.0258,rs35761929,0.07(T),0.873(P),1.635(L),-0.5742(T),,chr20,10622501,10622501,G,C,het,missense_variant(MODERATE|MISSENSE|cCa/cGa|p.Pro871Arg/c.2612C>G|1218|JAG1|protein_coding|CODING|NM_000214.2|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000035330.1,,0.1452,0.0288,0.0726,0.05,0.01,0.07,,0.000084(D),0.999(D),"-0.11,-2.04(T,D)",0.0952(T),0.562,4.070375,5.84,3.89,0.650000,0.794000,3.993000,0.991000,0.815000,1.000000,11.3551
synonymous_variant,JAG1,SILENT,NM_000214.2:p.Thr738Thr/c.2214A>C,acA/acC,LOW,,0.100839,0.0476,rs1801140,,,,,,chr20,10625804,10625804,T,G,het,synonymous_variant(LOW|SILENT|acA/acC|p.Thr738Thr/c.2214A>C|1218|JAG1|protein_coding|CODING|NM_000214.2|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000035328.1,,0.2127,0.147,0.1193,0.08,0.03,0.10,,,,,,,,,,,,,,,,
synonymous_variant,JAG1,SILENT,NM_000214.2:p.Tyr255Tyr/c.765C>T,taC/taT,LOW,COSM3758428(1),0.423323,0.3859,rs1131695,,,,,,chr20,10633237,10633237,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr255Tyr/c.765C>T|1218|JAG1|protein_coding|CODING|NM_000214.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,HepG2:HNF4A,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:FOXA1,GM06990:H3K36me3",,,,0.5337,0.4164,0.4722,0.42,0.34,0.47,,,,,,,,,,,,,,,,
synonymous_variant,JAG1,SILENT,NM_000214.2:p.Pro248Pro/c.744A>G,ccA/ccG,LOW,COSM4001812(1),0.0587061,0.0198,rs10485741,,,,,,chr20,10637057,10637057,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro248Pro/c.744A>G|1218|JAG1|protein_coding|CODING|NM_000214.2|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,RCV000035337.1|RCV000125429.1,,0.047,0.121,0.0825,0.07,0.06,0.07,,,,,,,,,,,,,,,,
synonymous_variant,JAG1,SILENT,NM_000214.2:p.Gly89Gly/c.267G>A,ggG/ggA,LOW,,0.0652955,0.1091,rs1051415,,,,,,chr20,10653469,10653469,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly89Gly/c.267G>A|1218|JAG1|protein_coding|CODING|NM_000214.2|2|1),"NHEK:H3K9ac,NHEK:H3K27ac,HepG2:H3K4me2,H1ESC:H3K9ac,GM12878:Pax5,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,K562:H3K27me3,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000035331.1|RCV000125428.1,,0.0266,0.1196,0.1034,0.08,0.02,0.11,,,,,,,,,,,,,,,,
synonymous_variant,SPTLC3,SILENT,NM_018327.2:p.Arg97Arg/c.289A>C,Aga/Cga,LOW,,0.995607,1,rs111185879,,,,,,chr20,13029764,13029764,A,C,hom,synonymous_variant(LOW|SILENT|Aga/Cga|p.Arg97Arg/c.289A>C|552|SPTLC3|protein_coding|CODING|NM_018327.2|2|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,1,0.9986,1,1.00,0.99,1.00,,,,,,,,,,,,,,,,
missense_variant,SPTLC3,MISSENSE,NM_018327.2:p.Leu140Val/c.418T>G,Ttg/Gtg,MODERATE,,0.736022,0.6052,rs243887,0.68(T),0.012(B),0.33(N),-0.9746(T),,chr20,13053018,13053018,T,G,het,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu140Val/c.418T>G|552|SPTLC3|protein_coding|CODING|NM_018327.2|3|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5368,0.7349,0.7565,0.80,0.93,0.73,,0.159173(N),0.999(P),"-0.35,-0.35,-0.35(T,T,T)",0.0000(T),0.022,0.213945,5.48,-6.28,-0.729000,-1.590000,-0.808000,0.007000,0.000000,0.000000,1.1148
synonymous_variant,SPTLC3,SILENT,NM_018327.2:p.Tyr466Tyr/c.1398T>C,taT/taC,LOW,COSM3758439(1),0.152556,0.2262,rs6078938,,,,-1.0017(T),,chr20,13134768,13134768,T,C,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr466Tyr/c.1398T>C|552|SPTLC3|protein_coding|CODING|NM_018327.2|10|1),"NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0613,0.2219,0.1282,0.14,0.14,0.14,,,0.000(P),,0.0001(T),.,0.021081,5.91,-3.3,-1.033000,-0.392000,0.543000,0.565000,0.979000,0.997000,14.1581
missense_variant,ESF1,MISSENSE,NM_001276380.1:p.Ile550Thr/c.1649T>C,aTa/aCa,MODERATE,COSM3758442(1),0.805511,0.9008,rs3180370,0.51(T),0.026(B),0(N),-1.0069(T),,chr20,13747441,13747441,A,G,het,"missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile550Thr/c.1649T>C|851|ESF1|protein_coding|CODING|NM_001276380.1|8|1),missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile550Thr/c.1649T>C|851|ESF1|protein_coding|CODING|NM_016649.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.817,0.8069,0.6879,0.71,0.80,0.67,,0.500476(N),1.000(P),0.71(T),0.0000(T),0.032,-1.544738,5.85,0.445,-3.382000,-0.090000,0.021000,0.156000,0.007000,0.008000,4.7539
missense_variant,SEL1L2,MISSENSE,NM_001271539.1:p.His574Gln/c.1722T>G,caT/caG,MODERATE,,0.142372,0.0903,rs2073290,1(T),"0.0,0.0(B,B)",-0.285(N),-1.0417(T),,chr20,13830137,13830137,A,C,het,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His574Gln/c.1722T>G|575|SEL1L2|protein_coding|CODING|NM_001271539.1|18|1),non_coding_exon_variant(MODIFIER|||n.2267T>G||SEL1L2||CODING|NR_073206.1|21|1),non_coding_exon_variant(MODIFIER|||n.2148T>G||SEL1L2||CODING|NR_073207.1|19|1)",HepG2:H3K27me3,,,,0.1851,0.2363,0.2594,0.19,0.05,0.26,,0.543298(N),1.000(P),"1.75,2.21(T,T)",0.0000(T),0.046,0.661779,5.43,-10.9,-1.272000,-1.893000,-1.060000,0.000000,0.000000,0.000000,4.1043
synonymous_variant,SEL1L2,SILENT,NM_001271539.1:p.Leu444Leu/c.1332T>C,ctT/ctC,LOW,,0.993411,1,rs660710,,,,,,chr20,13847420,13847420,A,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu444Leu/c.1332T>C|575|SEL1L2|protein_coding|CODING|NM_001271539.1|15|1),non_coding_exon_variant(MODIFIER|||n.1538T>C||SEL1L2||CODING|NR_073206.1|16|1),non_coding_exon_variant(MODIFIER|||n.1585T>C||SEL1L2||CODING|NR_073207.1|15|1)",NHEK:H3K27me3,,,,0.9949,0.9971,0.9831,0.99,0.99,0.98,,,,,,,,,,,,,,,,
synonymous_variant,FLRT3,SILENT,NM_013281.3:p.Thr419Thr/c.1257C>T,acC/acT,LOW,COSM4001827(2),0.34365,0.373,rs6042672,,,,,,chr20,14306896,14306896,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr419Thr/c.1257C>T|649|FLRT3|protein_coding|CODING|NM_013281.3|2|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr419Thr/c.1257C>T|649|FLRT3|protein_coding|CODING|NM_198391.2|3|1),intron_variant(MODIFIER|||c.272-167229G>A|425|MACROD2|protein_coding|CODING|NM_080676.5|3|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3569,0.2089,0.2763,0.32,0.42,0.27,,,,,,,,,,,,,,,,
missense_variant,FLRT3,MISSENSE,NM_013281.3:p.His400Gln/c.1200C>A,caC/caA,MODERATE,COSM1410455(2),0.260783,0.1597,rs6079391,0.3(T),0.0(B),0(N),-0.9126(T),,chr20,14306953,14306953,G,T,het,"missense_variant(MODERATE|MISSENSE|caC/caA|p.His400Gln/c.1200C>A|649|FLRT3|protein_coding|CODING|NM_013281.3|2|1),missense_variant(MODERATE|MISSENSE|caC/caA|p.His400Gln/c.1200C>A|649|FLRT3|protein_coding|CODING|NM_198391.2|3|1),intron_variant(MODIFIER|||c.272-167172G>T|425|MACROD2|protein_coding|CODING|NM_080676.5|3|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.1922,0.4107,0.4652,0.39,0.21,0.48,,0.020027(N),0.000(P),"0.37,0.37(T,T)",0.0000(T),0.015,-0.051493,6.06,1.58,-0.153000,0.899000,1.833000,0.962000,1.000000,1.000000,4.3331
missense_variant,KIF16B,MISSENSE,NM_001199866.1:p.Met1027Thr/c.3080T>C,aTg/aCg,MODERATE,,0.785144,0.9663,rs6034464,0.72(T),"0.008,0.014,0.012,0.004(B,B,B,B)",0(N),-0.9761(T),,chr20,16359567,16359567,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1027Thr/c.3080T>C|1266|KIF16B|protein_coding|CODING|NM_001199865.1|19|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1027Thr/c.3080T>C|1392|KIF16B|protein_coding|CODING|NM_001199866.1|19|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1027Thr/c.3080T>C|1317|KIF16B|protein_coding|CODING|NM_024704.4|19|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7781,0.7003,0.5497,0.68,0.84,0.60,,0.276827(N),0.999(P),"-0.31,-0.33,2.6,-0.41(T,T,T,T)",0.0000(T),0.035,0.427843,5.17,4.07,-0.263000,0.926000,3.855000,0.013000,0.908000,0.920000,10.0239
synonymous_variant,KIF16B,SILENT,NM_001199866.1:p.Lys999Lys/c.2997G>A,aaG/aaA,LOW,COSM4001831(1),0.182708,0.0565,rs8116503,,,,,,chr20,16359650,16359650,C,T,het,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys999Lys/c.2997G>A|1266|KIF16B|protein_coding|CODING|NM_001199865.1|19|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys999Lys/c.2997G>A|1392|KIF16B|protein_coding|CODING|NM_001199866.1|19|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys999Lys/c.2997G>A|1317|KIF16B|protein_coding|CODING|NM_024704.4|19|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1759,0.1383,0.2038,0.23,0.32,0.19,,,,,,,,,,,,,,,,
synonymous_variant,KIF16B,SILENT,NM_001199866.1:p.Ile457Ile/c.1371T>A,atT/atA,LOW,,0.0780751,0.0179,rs34550969,,,,,,chr20,16410559,16410559,A,T,het,"synonymous_variant(LOW|SILENT|atT/atA|p.Ile457Ile/c.1371T>A|1266|KIF16B|protein_coding|CODING|NM_001199865.1|13|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile457Ile/c.1371T>A|1392|KIF16B|protein_coding|CODING|NM_001199866.1|13|1),synonymous_variant(LOW|SILENT|atT/atA|p.Ile457Ile/c.1371T>A|1317|KIF16B|protein_coding|CODING|NM_024704.4|13|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1084,0.1196,0.173,0.12,0.03,0.16,,,,,,,,,,,,,,,,
synonymous_variant,KIF16B,SILENT,NM_001199866.1:p.Leu279Leu/c.837C>T,ctC/ctT,LOW,,0.240815,0.38,rs2295115,,,,,,chr20,16486698,16486698,G,A,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu279Leu/c.837C>T|1266|KIF16B|protein_coding|CODING|NM_001199865.1|8|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu279Leu/c.837C>T|1392|KIF16B|protein_coding|CODING|NM_001199866.1|8|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu279Leu/c.837C>T|1317|KIF16B|protein_coding|CODING|NM_024704.4|8|1)","IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2689,0.2839,0.2843,0.24,0.10,0.31,,,,,,,,,,,,,,,,
synonymous_variant,KIF16B,SILENT,NM_001199866.1:p.Gly128Gly/c.384A>G,ggA/ggG,LOW,,0.241214,0.38,rs6135775,,,,,,chr20,16493533,16493533,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly128Gly/c.384A>G|1266|KIF16B|protein_coding|CODING|NM_001199865.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly128Gly/c.384A>G|1392|KIF16B|protein_coding|CODING|NM_001199866.1|5|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly128Gly/c.384A>G|1317|KIF16B|protein_coding|CODING|NM_024704.4|5|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.271,0.2839,0.2843,0.24,0.10,0.31,,,,,,,,,,,,,,,,
synonymous_variant,BFSP1,SILENT,NM_001195.4:p.Thr642Thr/c.1926C>T,acC/acT,LOW,COSM149146(3),0.205871,0.0665,rs6080717,,,,,,chr20,17474791,17474791,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr517Thr/c.1551C>T|540|BFSP1|protein_coding|CODING|NM_001161705.1|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr642Thr/c.1926C>T|665|BFSP1|protein_coding|CODING|NM_001195.4|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr503Thr/c.1509C>T|526|BFSP1|protein_coding|CODING|NM_001278606.1|9|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr531Thr/c.1593C>T|554|BFSP1|protein_coding|CODING|NM_001278607.1|8|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr503Thr/c.1509C>T|526|BFSP1|protein_coding|CODING|NM_001278608.1|10|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2117,0.2205,0.2962,0.28,0.25,0.29,,,,,,,,,,,,,,,,
synonymous_variant,BFSP1,SILENT,NM_001195.4:p.Pro583Pro/c.1749A>G,ccA/ccG,LOW,,0.750599,0.6438,rs6080718,,,,,,chr20,17474968,17474968,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro458Pro/c.1374A>G|540|BFSP1|protein_coding|CODING|NM_001161705.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro583Pro/c.1749A>G|665|BFSP1|protein_coding|CODING|NM_001195.4|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro444Pro/c.1332A>G|526|BFSP1|protein_coding|CODING|NM_001278606.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro472Pro/c.1416A>G|554|BFSP1|protein_coding|CODING|NM_001278607.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro444Pro/c.1332A>G|526|BFSP1|protein_coding|CODING|NM_001278608.1|10|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8149,0.7608,0.7286,0.74,0.80,0.71,,,,,,,,,,,,,,,,
missense_variant,RRBP1,MISSENSE,NM_001042576.1:p.Ser766Leu/c.2297C>T,tCg/tTg,MODERATE,COSM4134256(1),0.397963,0.255,rs11960,0.23(T),"0.014,0.005(B,B)",1.61(L),-1.0317(T),,chr20,17600357,17600357,G,A,het,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser766Leu/c.2297C>T|977|RRBP1|protein_coding|CODING|NM_001042576.1|20|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser766Leu/c.2297C>T|977|RRBP1|protein_coding|CODING|NM_004587.2|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.5893,0.7465,0.53,0.16,0.72,,0.098483(N),1.000(P),"1.37,2.14,1.37,2.14,1.37(T,T,T,T,T)",0.0000(T),0.104,0.365254,5.84,2.85,0.563000,0.389000,2.602000,0.039000,0.213000,0.583000,8.0622
missense_variant,RRBP1,MISSENSE,NM_001042576.1:p.Leu610His/c.1829T>A,cTc/cAc,MODERATE,,1,1,rs6034867,0.16(T),0.002(B),0(N),-1.0604(T),,chr20,17605240,17605240,A,T,hom,"missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu610His/c.1829T>A|977|RRBP1|protein_coding|CODING|NM_001042576.1|14|1),missense_variant(MODERATE|MISSENSE|cTc/cAc|p.Leu610His/c.1829T>A|977|RRBP1|protein_coding|CODING|NM_004587.2|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.035228(N),1.000(P),"1.29,1.29,1.29,1.29,1.29(T,T,T,T,T)",0.0000(T),0.107,-0.379748,5.71,1.65,-1.400000,-0.113000,0.036000,0.070000,0.755000,0.011000,3.7473
missense_variant,BANF2,MISSENSE,NM_001159495.1:p.Asn10Asp/c.28A>G,Aac/Gac,MODERATE,,0.943291,0.9911,rs4814640,0.39(T),"0.001,0.001(B,B)",,-1.0312(T),,chr20,17705677,17705677,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn3Asp/c.7A>G|90|BANF2|protein_coding|CODING|NM_001014977.3|2|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn10Asp/c.28A>G|97|BANF2|protein_coding|CODING|NM_001159495.1|2|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn3Asp/c.7A>G|90|BANF2|protein_coding|CODING|NM_178477.4|3|1)","HUVEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9744,0.9669,0.9573,0.94,0.89,0.96,,0.743131(N),1.000(P),"0.57,0.57,0.57,0.57(T,T,T,T)",0.0000(T),0.019,0.493263,4.92,-6.31,-0.902000,-1.292000,-1.821000,0.034000,0.005000,0.000000,5.8936
synonymous_variant,SNX5,SILENT,NM_014426.3:p.Glu181Glu/c.543G>A,gaG/gaA,LOW,COSM3758457(2),0.297125,0.4375,rs2273448,,,,,,chr20,17932210,17932210,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu76Glu/c.228G>A|299|SNX5|protein_coding|CODING|NM_001282454.1|6|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu181Glu/c.543G>A|404|SNX5|protein_coding|CODING|NM_014426.3|6|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu181Glu/c.543G>A|404|SNX5|protein_coding|CODING|NM_152227.2|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4796,0.232,0.2634,0.25,0.16,0.29,,,,,,,,,,,,,,,,
missense_variant,MGME1,MISSENSE,NM_052865.2:p.Arg178Trp/c.532C>T,Cgg/Tgg,MODERATE,,0.00219649,0,rs143417446,0.01(D),0.663(P),1.04(L),-1.0329(T),,chr20,17956347,17956347,C,T,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg178Trp/c.532C>T|344|MGME1|protein_coding|CODING|NM_052865.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0043,0.007,0.00,0.00,0.00,,0.535039(N),1.000(D),"0.9,0.88(T,T)",0.0925(T),0.176,3.811327,5.49,4.55,0.655000,1.318000,5.528000,0.713000,0.640000,0.832000,11.4892
synonymous_variant,MGME1,SILENT,NM_052865.2:p.Asp282Asp/c.846T>C,gaT/gaC,LOW,COSM3758459(2),0.311901,0.4345,rs28455091,,,,,,chr20,17968923,17968923,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp282Asp/c.846T>C|344|MGME1|protein_coding|CODING|NM_052865.2|4|1),"H1ESC:H3K36me3,CD4:DNase1,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4663,0.2349,0.2624,0.27,0.22,0.29,,,,,,,,,,,,,,,,
missense_variant,CSRP2BP,MISSENSE,NM_020536.4:p.Val400Gly/c.1199T>G,gTc/gGc,MODERATE,,0.990615,1,rs1205193,0.55(T),"0.0,0.0(B,B)",0.345(N),-0.9567(T),,chr20,18143117,18143117,T,G,hom,"missense_variant(MODERATE|MISSENSE|gTc/gGc|p.Val400Gly/c.1199T>G|782|CSRP2BP|protein_coding|CODING|NM_020536.4|6|1),non_coding_exon_variant(MODIFIER|||n.1074T>G||CSRP2BP||CODING|NR_028402.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9949,0.9755,0.9771,0.98,0.99,0.97,,0.000304(N),0.802(P),"2.53,2.53,2.53,2.53(T,T,T,T)",0.0000(T),0.102,0.558603,6.03,6.03,-0.121000,1.569000,3.961000,0.980000,0.993000,1.000000,15.2383
synonymous_variant,CSRP2BP,SILENT,NM_020536.4:p.Pro479Pro/c.1437C>T,ccC/ccT,LOW,,0.28774,0.498,rs1205194,,,,,,chr20,18143355,18143355,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro479Pro/c.1437C>T|782|CSRP2BP|protein_coding|CODING|NM_020536.4|6|1),non_coding_exon_variant(MODIFIER|||n.1312C>T||CSRP2BP||CODING|NR_028402.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4141,0.2651,0.2575,0.20,0.10,0.25,,,,,,,,,,,,,,,,
synonymous_variant,CSRP2BP,SILENT,NM_020536.4:p.Pro741Pro/c.2223T>C,ccT/ccC,LOW,,0.991014,1,rs2747404,,,,,,chr20,18167977,18167977,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro741Pro/c.2223T>C|782|CSRP2BP|protein_coding|CODING|NM_020536.4|10|1),non_coding_exon_variant(MODIFIER|||n.2098T>C||CSRP2BP||CODING|NR_028402.2|9|1)","NHEK:H3K27ac,H1ESC:H3K36me3,HMEC:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.9959,0.9769,0.9781,0.98,1.00,0.98,,,,,,,,,,,,,,,,
missense_variant,ZNF133,MISSENSE,NM_001282996.1:p.Leu96Phe/c.286C>T,Ctc/Ttc,MODERATE,,0.122005,0.1409,rs34099160,0.06(T),"0.011,0.011,0.017,0.026(B,B,B,B)",1.65(L),-0.9975(T),,chr20,18295730,18295730,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu96Phe/c.286C>T|671|ZNF133|protein_coding|CODING|NM_001282996.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu79Phe/c.235C>T|654|ZNF133|protein_coding|CODING|NM_001282997.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu79Phe/c.235C>T|654|ZNF133|protein_coding|CODING|NM_001282998.1|4|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu79Phe/c.235C>T|654|ZNF133|protein_coding|CODING|NM_001282999.1|4|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu79Phe/c.235C>T|654|ZNF133|protein_coding|CODING|NM_001283000.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu79Phe/c.235C>T|654|ZNF133|protein_coding|CODING|NM_001283001.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu82Phe/c.244C>T|657|ZNF133|protein_coding|CODING|NM_001283002.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu16Phe/c.46C>T|591|ZNF133|protein_coding|CODING|NM_001283003.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu16Phe/c.46C>T|591|ZNF133|protein_coding|CODING|NM_001283004.1|5|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu86Phe/c.256C>T|661|ZNF133|protein_coding|CODING|NM_001283006.1|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu78Phe/c.232C>T|653|ZNF133|protein_coding|CODING|NM_001083330.2|4|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu78Phe/c.232C>T|653|ZNF133|protein_coding|CODING|NM_001282995.1|6|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu60Phe/c.178C>T|635|ZNF133|protein_coding|CODING|NM_001283005.1|2|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu92Phe/c.274C>T|667|ZNF133|protein_coding|CODING|NM_001283007.1|3|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu78Phe/c.232C>T|653|ZNF133|protein_coding|CODING|NM_003434.5|7|1),5_prime_UTR_variant(MODIFIER||51|c.-51C>T|559|ZNF133|protein_coding|CODING|NM_001283008.1|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,H1ESC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.1115,0.1037,0.0825,0.10,0.15,0.08,,0.746399(N),1.000(P),"3.3,5.36,3.3,3.08,3.29,5.47,3.29,5.48(T,T,T,T,T,T,T,T)",0.0000(T),0.155,-0.303546,3.88,1.8,0.655000,0.512000,0.080000,0.017000,0.012000,0.000000,5.9997
synonymous_variant,ZNF133,SILENT,NM_001282996.1:p.Pro139Pro/c.417G>A,ccG/ccA,LOW,COSM3758460(1),0.0565096,0.0139,rs2228274,,,,,,chr20,18295861,18295861,G,A,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro139Pro/c.417G>A|671|ZNF133|protein_coding|CODING|NM_001282996.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro122Pro/c.366G>A|654|ZNF133|protein_coding|CODING|NM_001282997.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro122Pro/c.366G>A|654|ZNF133|protein_coding|CODING|NM_001282998.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro122Pro/c.366G>A|654|ZNF133|protein_coding|CODING|NM_001282999.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro122Pro/c.366G>A|654|ZNF133|protein_coding|CODING|NM_001283000.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro122Pro/c.366G>A|654|ZNF133|protein_coding|CODING|NM_001283001.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro125Pro/c.375G>A|657|ZNF133|protein_coding|CODING|NM_001283002.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro59Pro/c.177G>A|591|ZNF133|protein_coding|CODING|NM_001283003.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro59Pro/c.177G>A|591|ZNF133|protein_coding|CODING|NM_001283004.1|5|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro129Pro/c.387G>A|661|ZNF133|protein_coding|CODING|NM_001283006.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro27Pro/c.81G>A|559|ZNF133|protein_coding|CODING|NM_001283008.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro121Pro/c.363G>A|653|ZNF133|protein_coding|CODING|NM_001083330.2|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro121Pro/c.363G>A|653|ZNF133|protein_coding|CODING|NM_001282995.1|6|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro103Pro/c.309G>A|635|ZNF133|protein_coding|CODING|NM_001283005.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro135Pro/c.405G>A|667|ZNF133|protein_coding|CODING|NM_001283007.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro121Pro/c.363G>A|653|ZNF133|protein_coding|CODING|NM_003434.5|7|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,HMEC:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.093,0.062,0.0706,0.07,0.05,0.08,,,,,,,,,,,,,,,,
missense_variant,ZNF133,MISSENSE,NM_001282996.1:p.Ser210Thr/c.628T>A,Tca/Aca,MODERATE,,0.994808,1,rs1033545,0.18(T),"0.001,0.001(B,B)",-0.895(N),-1.0290(T),,chr20,18296072,18296072,T,A,hom,"missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser210Thr/c.628T>A|671|ZNF133|protein_coding|CODING|NM_001282996.1|6|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser193Thr/c.577T>A|654|ZNF133|protein_coding|CODING|NM_001282997.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser193Thr/c.577T>A|654|ZNF133|protein_coding|CODING|NM_001282998.1|4|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser193Thr/c.577T>A|654|ZNF133|protein_coding|CODING|NM_001282999.1|4|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser193Thr/c.577T>A|654|ZNF133|protein_coding|CODING|NM_001283000.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser193Thr/c.577T>A|654|ZNF133|protein_coding|CODING|NM_001283001.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser196Thr/c.586T>A|657|ZNF133|protein_coding|CODING|NM_001283002.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser130Thr/c.388T>A|591|ZNF133|protein_coding|CODING|NM_001283003.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser130Thr/c.388T>A|591|ZNF133|protein_coding|CODING|NM_001283004.1|5|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser200Thr/c.598T>A|661|ZNF133|protein_coding|CODING|NM_001283006.1|3|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser98Thr/c.292T>A|559|ZNF133|protein_coding|CODING|NM_001283008.1|4|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser192Thr/c.574T>A|653|ZNF133|protein_coding|CODING|NM_001083330.2|4|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser192Thr/c.574T>A|653|ZNF133|protein_coding|CODING|NM_001282995.1|6|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser174Thr/c.520T>A|635|ZNF133|protein_coding|CODING|NM_001283005.1|2|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser206Thr/c.616T>A|667|ZNF133|protein_coding|CODING|NM_001283007.1|3|1),missense_variant(MODERATE|MISSENSE|Tca/Aca|p.Ser192Thr/c.574T>A|653|ZNF133|protein_coding|CODING|NM_003434.5|7|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9898,1,0.9871,1.00,1.00,0.99,,0.563932(N),1.000(P),"3.43,3.4,3.27,3.4,3.29,3.29,3.4(T,T,T,T,T,T,T)",0.0000(T),0.047,-2.351318,4.15,-3.74,-1.798000,-1.225000,-1.711000,0.006000,0.000000,0.000000,2.7872
missense_variant,ZNF133,MISSENSE,NM_001282996.1:p.Gly211Glu/c.632G>A,gGg/gAg,MODERATE,COSM3758461(3),0.120607,0.1379,rs2228273,0.01(D),"0.021,0.008,0.196,0.358(B,B,B,B)",0.69(N),-0.9051(T),,chr20,18296076,18296076,G,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly211Glu/c.632G>A|671|ZNF133|protein_coding|CODING|NM_001282996.1|6|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly194Glu/c.581G>A|654|ZNF133|protein_coding|CODING|NM_001282997.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly194Glu/c.581G>A|654|ZNF133|protein_coding|CODING|NM_001282998.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly194Glu/c.581G>A|654|ZNF133|protein_coding|CODING|NM_001282999.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly194Glu/c.581G>A|654|ZNF133|protein_coding|CODING|NM_001283000.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly194Glu/c.581G>A|654|ZNF133|protein_coding|CODING|NM_001283001.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly197Glu/c.590G>A|657|ZNF133|protein_coding|CODING|NM_001283002.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly131Glu/c.392G>A|591|ZNF133|protein_coding|CODING|NM_001283003.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly131Glu/c.392G>A|591|ZNF133|protein_coding|CODING|NM_001283004.1|5|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly201Glu/c.602G>A|661|ZNF133|protein_coding|CODING|NM_001283006.1|3|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly99Glu/c.296G>A|559|ZNF133|protein_coding|CODING|NM_001283008.1|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly193Glu/c.578G>A|653|ZNF133|protein_coding|CODING|NM_001083330.2|4|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly193Glu/c.578G>A|653|ZNF133|protein_coding|CODING|NM_001282995.1|6|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly175Glu/c.524G>A|635|ZNF133|protein_coding|CODING|NM_001283005.1|2|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly207Glu/c.620G>A|667|ZNF133|protein_coding|CODING|NM_001283007.1|3|1),missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly193Glu/c.578G>A|653|ZNF133|protein_coding|CODING|NM_003434.5|7|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HMEC:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1104,0.1037,0.0825,0.10,0.15,0.08,,0.020608(N),1.000(P),"3.46,3.43,3.28,3.43,3.34,3.34,3.43(T,T,T,T,T,T,T)",0.0000(T),0.144,-2.621583,4.15,1.08,0.561000,0.287000,0.082000,0.186000,0.007000,0.000000,6.6448
synonymous_variant,ZNF133,SILENT,NM_001282996.1:p.Tyr343Tyr/c.1029C>T,taC/taT,LOW,COSM3758462(1),0.0700879,0.0149,rs1050475,,,,,,chr20,18296473,18296473,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr343Tyr/c.1029C>T|671|ZNF133|protein_coding|CODING|NM_001282996.1|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr326Tyr/c.978C>T|654|ZNF133|protein_coding|CODING|NM_001282997.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr326Tyr/c.978C>T|654|ZNF133|protein_coding|CODING|NM_001282998.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr326Tyr/c.978C>T|654|ZNF133|protein_coding|CODING|NM_001282999.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr326Tyr/c.978C>T|654|ZNF133|protein_coding|CODING|NM_001283000.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr326Tyr/c.978C>T|654|ZNF133|protein_coding|CODING|NM_001283001.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr329Tyr/c.987C>T|657|ZNF133|protein_coding|CODING|NM_001283002.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr263Tyr/c.789C>T|591|ZNF133|protein_coding|CODING|NM_001283003.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr263Tyr/c.789C>T|591|ZNF133|protein_coding|CODING|NM_001283004.1|5|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr333Tyr/c.999C>T|661|ZNF133|protein_coding|CODING|NM_001283006.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr231Tyr/c.693C>T|559|ZNF133|protein_coding|CODING|NM_001283008.1|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr325Tyr/c.975C>T|653|ZNF133|protein_coding|CODING|NM_001083330.2|4|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr325Tyr/c.975C>T|653|ZNF133|protein_coding|CODING|NM_001282995.1|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr307Tyr/c.921C>T|635|ZNF133|protein_coding|CODING|NM_001283005.1|2|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr339Tyr/c.1017C>T|667|ZNF133|protein_coding|CODING|NM_001283007.1|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr325Tyr/c.975C>T|653|ZNF133|protein_coding|CODING|NM_003434.5|7|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.092,0.0735,0.0726,0.08,0.09,0.08,,,,,,,,,,,,,,,,
synonymous_variant,ZNF133,SILENT,NM_001282996.1:p.Ile583Ile/c.1749T>C,atT/atC,LOW,COSM3758463(1),0.0754792,0.0149,rs1050476,,,,,,chr20,18297193,18297193,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile583Ile/c.1749T>C|671|ZNF133|protein_coding|CODING|NM_001282996.1|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile566Ile/c.1698T>C|654|ZNF133|protein_coding|CODING|NM_001282997.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile566Ile/c.1698T>C|654|ZNF133|protein_coding|CODING|NM_001282998.1|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile566Ile/c.1698T>C|654|ZNF133|protein_coding|CODING|NM_001282999.1|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile566Ile/c.1698T>C|654|ZNF133|protein_coding|CODING|NM_001283000.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile566Ile/c.1698T>C|654|ZNF133|protein_coding|CODING|NM_001283001.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile569Ile/c.1707T>C|657|ZNF133|protein_coding|CODING|NM_001283002.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile503Ile/c.1509T>C|591|ZNF133|protein_coding|CODING|NM_001283003.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile503Ile/c.1509T>C|591|ZNF133|protein_coding|CODING|NM_001283004.1|5|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile573Ile/c.1719T>C|661|ZNF133|protein_coding|CODING|NM_001283006.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile471Ile/c.1413T>C|559|ZNF133|protein_coding|CODING|NM_001283008.1|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile565Ile/c.1695T>C|653|ZNF133|protein_coding|CODING|NM_001083330.2|4|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile565Ile/c.1695T>C|653|ZNF133|protein_coding|CODING|NM_001282995.1|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile547Ile/c.1641T>C|635|ZNF133|protein_coding|CODING|NM_001283005.1|2|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile579Ile/c.1737T>C|667|ZNF133|protein_coding|CODING|NM_001283007.1|3|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile565Ile/c.1695T>C|653|ZNF133|protein_coding|CODING|NM_003434.5|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.092,0.0749,0.0726,0.09,0.11,0.08,,,,,,,,,,,,,,,,
synonymous_variant,DZANK1,SILENT,NM_001099407.1:p.Leu470Leu/c.1410G>C,ctG/ctC,LOW,COSM3933790(1),0.629593,0.3095,rs6075337,,,,,,chr20,18393312,18393312,C,G,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu470Leu/c.1410G>C|752|DZANK1|protein_coding|CODING|NM_001099407.1|13|1),"GM12878:H3K27ac,GM06990:H3K4me3,GM12878:DNase1,GM12878:PU1,GM12878:H3K4me2",,,,0.8108,0.6441,0.7992,0.74,0.65,0.79,,,0.000(P),,,.,-0.484086,5.67,4.73,-0.120000,0.770000,0.831000,0.236000,0.987000,1.000000,11.1108
missense_variant,DZANK1,MISSENSE,NM_001099407.1:p.Gly354Ser/c.1060G>A,Ggc/Agc,MODERATE,COSM4001843(1),0.2498,0.1696,rs6035037,0.11(T),"0.056,0.048,0.004(B,B,B)",0.075(N),-1.0131(T),,chr20,18395988,18395988,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly354Ser/c.1060G>A|752|DZANK1|protein_coding|CODING|NM_001099407.1|11|1),,,,,0.3558,0.2983,0.3151,0.26,0.17,0.31,,0.180784(N),1.000(P),"0.26,0.09,0.76,0.21(T,T,T,T)",0.0000(T),0.362,2.562631,5.57,3.54,0.313000,0.619000,3.120000,0.858000,0.980000,0.998000,8.6331
synonymous_variant,DZANK1,SILENT,NM_001099407.1:p.Cys267Cys/c.801T>C,tgT/tgC,LOW,COSM4134279(1),0.831669,0.8452,rs6035042,,,,-1.0217(T),,chr20,18414356,18414356,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys267Cys/c.801T>C|752|DZANK1|protein_coding|CODING|NM_001099407.1|9|1),HepG2:H3K36me3,,,,0.9673,0.8228,0.8897,0.84,0.74,0.89,,,0.000(P),,0.0000(T),.,-0.743449,4.97,0.122,-2.040000,-0.501000,0.731000,0.014000,0.989000,1.000000,10.1665
synonymous_variant,POLR3F,SILENT,NM_006466.3:p.Thr280Thr/c.840A>G,acA/acG,LOW,,0.819688,0.8145,rs1055171,,,,,,chr20,18462421,18462421,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr239Thr/c.717A>G|275|POLR3F|protein_coding|CODING|NM_001282526.1|8|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr280Thr/c.840A>G|316|POLR3F|protein_coding|CODING|NM_006466.3|8|1),non_coding_exon_variant(MODIFIER|||n.1016A>G||POLR3F||CODING|NR_104209.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9213,0.7723,0.8757,0.83,0.75,0.87,,,,,,,,,,,,,,,,
synonymous_variant,SCP2D1,SILENT,NM_178483.2:p.Thr85Thr/c.255C>T,acC/acT,LOW,,0.211661,0.0308,rs1053834,,,,,,chr20,18794714,18794714,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr85Thr/c.255C>T|156|SCP2D1|protein_coding|CODING|NM_178483.2|1|1),intron_variant(MODIFIER|||c.117-3955G>A|151|C20orf78|protein_coding|CODING|NM_001242671.1|2|1)",HepG2:H3K27me3,,,,0.2065,0.1643,0.175,0.24,0.36,0.17,,,,,,,,,,,,,,,,
missense_variant,SCP2D1,MISSENSE,NM_178483.2:p.Pro99Ser/c.295C>T,Cct/Tct,MODERATE,,0.227436,0.0417,rs1053839,0.43(T),0.034(B),0.185(N),-0.9121(T),,chr20,18794754,18794754,C,T,het,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro99Ser/c.295C>T|156|SCP2D1|protein_coding|CODING|NM_178483.2|1|1),intron_variant(MODIFIER|||c.117-3995G>A|151|C20orf78|protein_coding|CODING|NM_001242671.1|2|1)",HepG2:H3K27me3,,,,0.2168,0.196,0.1839,0.24,0.38,0.17,,0.157842(N),1.000(P),2.05(T),0.0000(T),0.032,-0.004557,6.08,-3.53,-0.229000,-0.999000,0.042000,0.373000,0.009000,0.378000,6.5669
missense_variant,SLC24A3,MISSENSE,NM_020689.3:p.Val55Ile/c.163G>A,Gta/Ata,MODERATE,,0.432109,0.5188,rs1569767,,0.0(B),0.205(N),-0.9157(T),,chr20,19261623,19261623,G,A,het,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val55Ile/c.163G>A|644|SLC24A3|protein_coding|CODING|NM_020689.3|2|1),intron_variant(MODIFIER|||n.529+2160C>T||LOC100130264||NON_CODING|NR_024564.1|2|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4213,0.5375,0.4175,0.40,0.33,0.43,,0.759602(N),1.000(P),0.15(T),0.0000(T),0.014,1.299700,5.39,1.86,-0.254000,-0.085000,-0.057000,0.996000,0.908000,0.462000,2.3173
synonymous_variant,SLC24A3,SILENT,NM_020689.3:p.Ala123Ala/c.369G>A,gcG/gcA,LOW,COSM4001849(3),0.652756,0.6567,rs3790261,,,,,,chr20,19560664,19560664,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala123Ala/c.369G>A|644|SLC24A3|protein_coding|CODING|NM_020689.3|4|1),HepG2:H3K27me3,,,,0.7362,0.7118,0.7922,0.68,0.52,0.76,,,,,,,,,,,,,,,,
synonymous_variant,SLC24A3,SILENT,NM_020689.3:p.Leu213Leu/c.639G>A,ctG/ctA,LOW,COSM3758470(2),0.556709,0.2669,rs3790278,,,,,,chr20,19634732,19634732,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu213Leu/c.639G>A|644|SLC24A3|protein_coding|CODING|NM_020689.3|7|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4755,0.572,0.6332,0.67,0.75,0.62,,,,,,,,,,,,,,,,
synonymous_variant,SLC24A3,SILENT,NM_020689.3:p.Ile218Ile/c.654T>C,atT/atC,LOW,COSM3758471(3),0.54992,0.2669,rs3790279,,,,,,chr20,19634747,19634747,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile218Ile/c.654T>C|644|SLC24A3|protein_coding|CODING|NM_020689.3|7|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4755,0.572,0.6332,0.66,0.73,0.62,,,,,,,,,,,,,,,,
missense_variant,RIN2,MISSENSE,NM_001242581.1:p.Ser246Thr/c.736T>A,Tcg/Acg,MODERATE,COSM4001852(1),0.159345,0.2431,rs3803981,,0.0(B),-0.98(N),-1.0287(T),,chr20,19951534,19951534,T,A,het,"missense_variant(MODERATE|MISSENSE|Tcg/Acg|p.Ser246Thr/c.736T>A|944|RIN2|protein_coding|CODING|NM_001242581.1|7|1),missense_variant(MODERATE|MISSENSE|Tcg/Acg|p.Ser197Thr/c.589T>A|895|RIN2|protein_coding|CODING|NM_018993.3|6|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0808,0.1614,0.1392,0.15,0.14,0.15,,0.000000(N),0.000(P),0.79(T),0.0000(T),0.038,0.553871,5.66,4.56,-0.624000,0.960000,6.837000,0.971000,0.994000,1.000000,11.5874
missense_variant,CFAP61,MISSENSE,NM_015585.3:p.His254Arg/c.761A>G,cAt/cGt,MODERATE,,0.0626997,0.001,rs6075614,0.82(T),"0.812,0.009,0.031,0.035(P,B,B,B)",0.665(N),-1.1231(T),,chr20,20079360,20079360,A,G,het,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His254Arg/c.761A>G|470|CFAP61|protein_coding|CODING|NM_001167816.1|7|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His254Arg/c.761A>G|1237|CFAP61|protein_coding|CODING|NM_015585.3|8|1)",HepG2:H3K27me3,,,,0.1329,0.0648,0.1302,0.11,0.03,0.15,,0.128539(N),0.000(P),"1.63,1.63,1.63,1.63,1.63,1.63(T,T,T,T,T,T)",0.0005(T),0.48,-0.137624,5.44,5.44,0.533000,2.066000,5.249000,0.124000,0.227000,0.994000,11.4723
synonymous_variant,CFAP61,SILENT,NM_015585.3:p.Asn436Asn/c.1308C>T,aaC/aaT,LOW,COSM3758479(2),0.139776,0.0407,rs6075630,,,,-1.0390(T),,chr20,20150027,20150027,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn436Asn/c.1308C>T|470|CFAP61|protein_coding|CODING|NM_001167816.1|12|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn436Asn/c.1308C>T|1237|CFAP61|protein_coding|CODING|NM_015585.3|13|1)",,,,,0.2607,0.1254,0.2664,0.20,0.06,0.27,,,0.000(P),,0.0000(T),.,0.667501,5.87,3.59,0.655000,1.625000,0.958000,0.681000,1.000000,1.000000,8.8967
synonymous_variant,CFAP61,SILENT,NM_015585.3:p.Asp759Asp/c.2277C>T,gaC/gaT,LOW,COSM3758480(2),0.066893,0.0208,rs56102210,,,,,,chr20,20232356,20232356,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp759Asp/c.2277C>T|1237|CFAP61|protein_coding|CODING|NM_015585.3|20|1),HepG2:H3K27me3,,,,0.0951,0.0663,0.1372,0.09,0.04,0.12,,,,,,,,,,,,,,,,
synonymous_variant,INSM1,SILENT,NM_002196.2:p.Ser17Ser/c.51C>T,tcC/tcT,LOW,,0.0738818,0.0079,rs111558392,,,,,,chr20,20348962,20348962,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser17Ser/c.51C>T|510|INSM1|protein_coding|CODING|NM_002196.2|1|1),"H1ESC:H3K9ac,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.0859,0.0879,0.1143,0.12,0.08,0.13,,,,,,,,,,,,,,,,
synonymous_variant,RALGAPA2,SILENT,NM_020343.3:p.Pro1597Pro/c.4791C>T,ccC/ccT,LOW,COSM149149(2),0.270567,0.2163,rs35039408,0.03(D),,,-1.1190(T),,chr20,20493222,20493222,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1597Pro/c.4791C>T|1873|RALGAPA2|protein_coding|CODING|NM_020343.3|32|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.4395,0.4195,0.31,0.09,0.41,,0.000000(D),0.000(P),"-3.37,-3.37(D,D)",0.0000(T),.,0.835272,5.97,-1.68,0.561000,-0.136000,-1.513000,0.978000,0.914000,0.002000,5.9471
missense_variant,KIZ,MISSENSE,NM_018474.4:p.His139Gln/c.417C>G,caC/caG,MODERATE,,0.559105,0.5625,rs4815025,,,,,,chr20,21142523,21142523,C,G,het,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His36Gln/c.108C>G|569|KIZ|protein_coding|CODING|NM_001163022.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|caC/caG|p.His6Gln/c.18C>G|539|KIZ|protein_coding|CODING|NM_001163023.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|caC/caG|p.His90Gln/c.270C>G|623|KIZ|protein_coding|CODING|NM_001276389.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|caC/caG|p.His139Gln/c.417C>G|672|KIZ|protein_coding|CODING|NM_018474.4|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8006,0.572,0.665,0.58,0.38,0.68,,,,,,,,,,,,,,,,
missense_variant,KIZ,MISSENSE,NM_018474.4:p.Met236Thr/c.707T>C,aTg/aCg,MODERATE,,0.664337,0.5694,rs2236178,,,,,,chr20,21142813,21142813,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met133Thr/c.398T>C|569|KIZ|protein_coding|CODING|NM_001163022.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met103Thr/c.308T>C|539|KIZ|protein_coding|CODING|NM_001163023.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met187Thr/c.560T>C|623|KIZ|protein_coding|CODING|NM_001276389.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met236Thr/c.707T>C|672|KIZ|protein_coding|CODING|NM_018474.4|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8016,0.6182,0.67,0.68,0.68,0.69,,,,,,,,,,,,,,,,
synonymous_variant,FOXA2,SILENT,NM_021784.4:p.Gln402Gln/c.1206A>G,caA/caG,LOW,,0.95607,1,rs1212275,,,,,,chr20,22562674,22562674,T,C,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln402Gln/c.1206A>G|463|FOXA2|protein_coding|CODING|NM_021784.4|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln396Gln/c.1188A>G|457|FOXA2|protein_coding|CODING|NM_153675.2|3|1)","H1ESC:H3K36me3,HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HepG2:PolII,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.9755,0.9078,0.8738,0.90,0.97,0.86,,,,,,,,,,,,,,,,
missense_variant,SSTR4,MISSENSE,NM_001052.2:p.Phe284Val/c.850T>G,Ttc/Gtc,MODERATE,COSM1410754(2),0.305511,0.2351,rs3746726,1(T),0.017(B),1.495(L),-0.9664(T),,chr20,23016970,23016970,T,G,het,missense_variant(MODERATE|MISSENSE|Ttc/Gtc|p.Phe284Val/c.850T>G|388|SSTR4|protein_coding|CODING|NM_001052.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4479,0.281,0.3698,0.33,0.23,0.39,,0.000451(U),0.925(P),1.08(T),0.0000(T),0.202,0.750733,3.36,3.36,0.533000,1.384000,1.296000,0.626000,0.479000,0.846000,6.6396
synonymous_variant,SSTR4,SILENT,NM_001052.2:p.Leu299Leu/c.897T>C,ctT/ctC,LOW,COSM1410755(2),0.482228,0.5258,rs2567609,,,,,,chr20,23017017,23017017,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu299Leu/c.897T>C|388|SSTR4|protein_coding|CODING|NM_001052.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5992,0.4669,0.4294,0.44,0.40,0.46,,,,,,,,,,,,,,,,
synonymous_variant,SSTR4,SILENT,NM_001052.2:p.Pro308Pro/c.924C>T,ccC/ccT,LOW,COSM1410756(3),0.309105,0.2351,rs3746728,,,,,,chr20,23017044,23017044,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro308Pro/c.924C>T|388|SSTR4|protein_coding|CODING|NM_001052.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4468,0.2824,0.3698,0.34,0.24,0.39,,,,,,,,,,,,,,,,
missense_variant,SSTR4,MISSENSE,NM_001052.2:p.Phe321Ser/c.962T>C,tTc/tCc,MODERATE,COSM1410758(1),0.519569,0.5466,rs2567608,1(T),0.0(B),-1.79(N),-0.9136(T),,chr20,23017082,23017082,T,C,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe321Ser/c.962T>C|388|SSTR4|protein_coding|CODING|NM_001052.2|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6022,0.4726,0.4304,0.47,0.51,0.46,,0.000016(N),1.000(P),1.28(T),0.0000(T),0.09,-2.097028,3.65,3.65,-0.119000,0.739000,1.591000,0.215000,0.154000,0.010000,9.9983
missense_variant,THBD,MISSENSE,NM_000361.2:p.Ala473Val/c.1418C>T,gCc/gTc,MODERATE,,0.164537,0.3046,rs1042579,0.42(T),0.0(B),0.84(L),-1.1416(T),,chr20,23028724,23028724,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala473Val/c.1418C>T|575|THBD|protein_coding|CODING|NM_000361.2|1|1),"NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,H1ESC:H3K27me3,HUVEC:CTCF,HMEC:H3K4me2,NH-A:H3K27me3,HUVEC:DNase1,IMR90:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3",,,,0.1963,0.147,0.1928,0.14,0.06,0.18,,0.341366(N),1.000(P),-1.31(T),0.0001(T),0.005,1.052227,4.73,-1.34,-1.134000,-0.087000,-0.195000,0.000000,0.000000,0.000000,4.3108
synonymous_variant,CD93,SILENT,NM_012072.3:p.Arg496Arg/c.1488T>C,cgT/cgC,LOW,COSM4134317(1),0.779752,0.8036,rs3746732,,,,,,chr20,23065342,23065342,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg496Arg/c.1488T>C|652|CD93|protein_coding|CODING|NM_012072.3|1|1),"HUVEC:H3K4me3,HUVEC:H3K9ac,HUVEC:H3K4me2,IMR90:H3K27me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.7761,0.8156,0.7435,0.75,0.75,0.76,,,,,,,,,,,,,,,,
missense_variant,GZF1,MISSENSE,NM_022482.3:p.Gln275Pro/c.824A>C,cAg/cCg,MODERATE,COSM3758488(1),0.668331,0.8879,rs6048760,0.35(T),0.0(B),-0.975(N),-1.0744(T),,chr20,23345844,23345844,A,C,het,missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln275Pro/c.824A>C|711|GZF1|protein_coding|CODING|NM_022482.3|1|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.501,0.5807,0.4602,0.57,0.77,0.46,,0.161934(N),1.000(P),"2.96,2.96(T,T)",0.0000(T),0.016,-3.390654,4.0,2.02,-2.594000,0.130000,0.133000,0.000000,0.000000,0.000000,3.5377
synonymous_variant,GZF1,SILENT,NM_022482.3:p.Asn616Asn/c.1848C>T,aaC/aaT,LOW,,0.0994409,0.0794,rs10485644,,,,,,chr20,23350790,23350790,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn616Asn/c.1848C>T|711|GZF1|protein_coding|CODING|NM_022482.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0429,0.0303,0.0547,0.10,0.20,0.05,,,,,,,,,,,,,,,,
missense_variant,CSTL1,MISSENSE,NM_138283.1:p.Trp88Arg/c.262T>C,Tgg/Cgg,MODERATE,COSM3758489(1),0.654952,0.7292,rs3746736,1(T),0.0(B),-2.765(N),-1.0278(T),,chr20,23424613,23424613,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp88Arg/c.262T>C|145|CSTL1|protein_coding|CODING|NM_138283.1|3|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.5082,0.6023,0.494,0.60,0.79,0.50,,0.000870(N),1.000(P),"2.9,2.9(T,T)",0.0000(T),0.179,-2.488228,4.06,-0.597,-0.929000,-0.325000,-0.270000,0.035000,0.901000,0.062000,6.2799
synonymous_variant,CSTL1,SILENT,NM_138283.1:p.Leu103Leu/c.309G>C,ctG/ctC,LOW,,0.169928,0.0823,rs12625959,,,,,,chr20,23424660,23424660,G,C,het,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu103Leu/c.309G>C|145|CSTL1|protein_coding|CODING|NM_138283.1|3|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.0583,0.0432,0.0577,0.17,0.41,0.05,,,,,,,,,,,,,,,,
synonymous_variant,CST8,SILENT,NM_001281730.1:p.Thr29Thr/c.87A>G,acA/acG,LOW,,0.991014,1,rs2983288,,,,,,chr20,23472391,23472391,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr29Thr/c.87A>G|142|CST8|protein_coding|CODING|NM_001281730.1|2|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr29Thr/c.87A>G|142|CST8|protein_coding|CODING|NM_005492.3|2|1)",HepG2:H3K27me3,,,,1,0.9798,0.9702,0.98,0.99,0.97,,,,,,,,,,,,,,,,
missense_variant,CST9L,MISSENSE,NM_080610.2:p.His109Pro/c.326A>C,cAt/cCt,MODERATE,COSM1130674(2),0.375799,0.5417,rs2295564,1(T),0.0(B),-2.85(N),-0.9276(T),,chr20,23546639,23546639,T,G,het,missense_variant(MODERATE|MISSENSE|cAt/cCt|p.His109Pro/c.326A>C|147|CST9L|protein_coding|CODING|NM_080610.2|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4233,0.4049,0.3877,0.35,0.23,0.41,,0.002175(N),1.000(P),1.86(T),0.0000(T),0.059,-1.937714,1.92,1.92,-0.323000,0.363000,0.460000,0.040000,0.202000,0.711000,5.6793
missense_variant,CST9,MISSENSE,NM_001008693.2:p.Leu48Phe/c.142C>T,Ctc/Ttc,MODERATE,COSM4001857(1),0.455072,0.6796,rs2983640,0.72(T),0.87(P),0.895(L),-0.9029(T),,chr20,23586360,23586360,G,A,het,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu48Phe/c.142C>T|159|CST9|protein_coding|CODING|NM_001008693.2|1|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4192,0.6182,0.6302,0.46,0.16,0.61,,0.570071(N),1.000(P),1.75(T),0.0000(T),0.045,0.354650,2.66,-1.91,-0.225000,-0.396000,-0.154000,0.003000,0.000000,0.000000,2.6821
synonymous_variant,CST3,SILENT,NM_000099.3:p.Leu35Leu/c.105A>G,ctA/ctG,LOW,COSM3758491(4),0.951078,1,rs6138024,,,,,,chr20,23618395,23618395,T,C,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu35Leu/c.105A>G|146|CST3|protein_coding|CODING|NM_000099.3|1|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu35Leu/c.105A>G|146|CST3|protein_coding|CODING|NM_001288614.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:HNF4A,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,K562:HEY1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,IMR90:H3K4me3,K562:DNase1",,,,1,0.9813,1,0.95,0.85,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CST1,SILENT,NM_001898.2:p.Arg91Arg/c.273C>A,cgC/cgA,LOW,COSM4134319(1),,,rs3188314,,,,,,chr20,23729722,23729722,G,T,hom,synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg91Arg/c.273C>A|141|CST1|protein_coding|CODING|NM_001898.2|2|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CST1,MISSENSE,NM_001898.2:p.Pro31Leu/c.92C>T,cCg/cTg,MODERATE,,0.177915,0.0764,rs2070856,0.91(T),0.0(B),0(N),-0.9435(T),,chr20,23731412,23731412,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro31Leu/c.92C>T|141|CST1|protein_coding|CODING|NM_001898.2|1|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3384,0.0937,0.1113,0.16,0.21,0.13,,0.819400(N),1.000(P),"2.66,2.66(T,T)",0.0000(T),0.04,-0.293234,1.45,-2.91,-1.207000,-1.070000,0.296000,0.004000,0.000000,0.000000,5.9667
synonymous_variant,CST1,SILENT,NM_001898.2:p.Glu26Glu/c.78G>A,gaG/gaA,LOW,COSM149152(1),0.366813,0.2123,rs13045477,,,,,,chr20,23731426,23731426,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu26Glu/c.78G>A|141|CST1|protein_coding|CODING|NM_001898.2|1|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3875,0.3343,0.2465,0.33,0.50,0.25,,,,,,,,,,,,,,,,
missense_variant,CST1,MISSENSE,NM_001898.2:p.Tyr4His/c.10T>C,Tat/Cat,MODERATE,,0.829673,0.9048,rs6076122,0.55(T),0.0(B),0(N),-1.0524(T),,chr20,23731494,23731494,A,G,hom,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr4His/c.10T>C|141|CST1|protein_coding|CODING|NM_001898.2|1|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7843,0.7133,0.7068,0.77,0.92,0.70,,0.892372(N),1.000(P),"3.21,3.21(T,T)",0.0000(T),0.041,0.060322,1.38,0.348,-1.160000,-0.243000,-0.844000,0.000000,0.000000,0.000000,4.1273
missense_variant,CST5,MISSENSE,NM_001900.4:p.Cys46Arg/c.136T>C,Tgt/Cgt,MODERATE,COSM149153(4),0.565096,0.494,rs1799841,0.87(T),0.0(B),-2.38(N),-0.9702(T),,chr20,23860178,23860178,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys46Arg/c.136T>C|142|CST5|protein_coding|CODING|NM_001900.4|1|1),HepG2:H3K27me3,,,,0.4376,0.5476,0.4453,0.54,0.75,0.43,,0.702474(N),1.000(P),1.84(T),0.0000(T),0.027,-2.500876,1.99,-0.399,-0.380000,-0.410000,-1.217000,0.002000,0.001000,0.000000,0.8314
missense_variant,ACSS1,MISSENSE,NM_032501.3:p.Val488Met/c.1462G>A,Gtg/Atg,MODERATE,COSM4134332(1),0.163938,0.0595,rs6050249,0.03(D),"0.009,0.049,0.082,0.056(B,B,B,B)",1.64(L),-1.0384(T),,chr20,24994289,24994289,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val486Met/c.1456G>A|687|ACSS1|protein_coding|CODING|NM_001252675.1|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val367Met/c.1099G>A|568|ACSS1|protein_coding|CODING|NM_001252676.1|9|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val488Met/c.1462G>A|575|ACSS1|protein_coding|CODING|NM_001252677.1|10|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val488Met/c.1462G>A|689|ACSS1|protein_coding|CODING|NM_032501.3|10|1)","GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0849,0.1513,0.167,0.23,0.31,0.18,,0.841609(N),0.000(P),"0.43,0.43,0.43,0.43(T,T,T,T)",0.0000(T),0.087,2.031940,5.28,-10.6,-0.137000,-1.951000,-2.494000,0.009000,0.000000,0.000000,2.2329
synonymous_variant,ACSS1,SILENT,NM_032501.3:p.Ala201Ala/c.603A>G,gcA/gcG,LOW,COSM4001862(2),0.222644,0.0873,rs6050259,,,,,,chr20,25011423,25011423,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala201Ala/c.603A>G|687|ACSS1|protein_coding|CODING|NM_001252675.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala80Ala/c.240A>G|568|ACSS1|protein_coding|CODING|NM_001252676.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala201Ala/c.603A>G|575|ACSS1|protein_coding|CODING|NM_001252677.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala201Ala/c.603A>G|689|ACSS1|protein_coding|CODING|NM_032501.3|3|1)","GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,GM06990:H3K36me3",,,,0.1912,0.2305,0.3072,0.31,0.30,0.31,,,,,,,,,,,,,,,,
synonymous_variant,ACSS1,SILENT,NM_032501.3:p.Thr85Thr/c.255C>A,acC/acA,LOW,COSM3773977(3),0.191494,0.4812,rs66817095,,,,,,chr20,25038484,25038484,G,T,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr85Thr/c.255C>A|687|ACSS1|protein_coding|CODING|NM_001252675.1|1|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr85Thr/c.255C>A|575|ACSS1|protein_coding|CODING|NM_001252677.1|1|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr85Thr/c.255C>A|689|ACSS1|protein_coding|CODING|NM_032501.3|1|1)","NHEK:H3K9ac,HepG2:H3K4me2,CD4:H3K18ac,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HUVEC:H3K4me2,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,IMR90:H3K27me3,CD4:PolII,NHEK:H3K4me2,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3",,,,0.1391,0.2032,0.1829,0.12,0.04,0.17,,,,,,,,,,,,,,,,
missense_variant,VSX1,MISSENSE,NM_199425.2:p.Arg217His/c.650G>A,cGc/cAc,MODERATE,,0.215655,0.5268,rs6138482,0(D),0.001(B),,-0.9600(T),,chr20,25059442,25059442,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg217His/c.650G>A|239|VSX1|protein_coding|CODING|NM_199425.2|3|1),intron_variant(MODIFIER|||c.627+23G>A|236|VSX1|protein_coding|CODING|NM_001256271.1|3|1),intron_variant(MODIFIER|||n.910+23G>A||VSX1||CODING|NR_045951.1|3|1),intron_variant(MODIFIER|||c.627+23G>A|301|VSX1|protein_coding|CODING|NM_001256272.1|3|1),intron_variant(MODIFIER|||c.627+23G>A|365|VSX1|protein_coding|CODING|NM_014588.5|3|1),intron_variant(MODIFIER|||n.910+23G>A||VSX1||CODING|NR_045948.1|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1759,0.2147,0.2137,0.15,0.04,0.20,,,1.000(P),-3.21(D),0.0000(T),0.073,1.577349,4.23,-4.87,-1.590000,-1.182000,-0.065000,0.006000,0.000000,0.000000,0.4641
missense_variant,ENTPD6,MISSENSE,NM_001247.2:p.Ser14Asn/c.41G>A,aGc/aAc,MODERATE,COSM3758494(1),0.311901,0.5903,rs2076559,0.45(T),"0.038,0.038,0.038,0.017,0.017(B,B,B,B,B)",0.55(N),-0.9338(T),,chr20,25187213,25187213,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser14Asn/c.41G>A|484|ENTPD6|protein_coding|CODING|NM_001247.2|2|1),intron_variant(MODIFIER|||c.4-499G>A|467|ENTPD6|protein_coding|CODING|NM_001114089.1|1|1)","GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.2349,0.3469,0.26,0.14,0.32,,,1.000(P),"2.18,2.18,2.05,1.37,2.35(T,T,T,T,T)",0.0000(T),0.198,0.961415,2.98,-0.162,-0.172000,0.004000,0.214000,0.007000,0.000000,0.001000,3.4656
synonymous_variant,ENTPD6,SILENT,NM_001247.2:p.Pro168Pro/c.504G>A,ccG/ccA,LOW,COSM3758495(2),0.310104,0.5913,rs2076561,,,,-1.0098(T),,chr20,25193949,25193949,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro151Pro/c.453G>A|467|ENTPD6|protein_coding|CODING|NM_001114089.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro168Pro/c.504G>A|484|ENTPD6|protein_coding|CODING|NM_001247.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3292,0.2262,0.3459,0.26,0.14,0.32,,,0.000(P),,0.0000(T),.,-0.885057,5.79,-11.6,-2.589000,-3.712000,-2.000000,0.056000,0.008000,0.000000,1.9584
missense_variant,ENTPD6,MISSENSE,NM_001247.2:p.Lys202Glu/c.604A>G,Aaa/Gaa,MODERATE,,0.993211,1,rs6050446,1(T),"0.002,0.002,0.001,0.001,0.001(B,B,B,B,B)",-1.42(N),-0.9605(T),,chr20,25195509,25195509,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys185Glu/c.553A>G|467|ENTPD6|protein_coding|CODING|NM_001114089.1|5|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys202Glu/c.604A>G|484|ENTPD6|protein_coding|CODING|NM_001247.2|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,0.9986,0.9692,0.98,1.00,0.97,,0.002397(N),1.000(P),"2.82,2.82,2.82,2.82,2.78,2.82,2.78,2.78(T,T,T,T,T,T,T,T)",0.0000(T),0.361,-0.632726,6.0,5.06,-0.166000,0.896000,3.323000,0.265000,0.997000,1.000000,11.0844
missense_variant,PYGB,MISSENSE,NM_002862.3:p.Ala303Ser/c.907G>T,Gcc/Tcc,MODERATE,COSM149154(2),0.16234,0.3512,rs2228976,0.06(T),0.941(D),3.005(M),-1.8628(T),,chr20,25259006,25259006,G,T,hom,missense_variant(MODERATE|MISSENSE|Gcc/Tcc|p.Ala303Ser/c.907G>T|843|PYGB|protein_coding|CODING|NM_002862.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1155,0.1297,0.1849,0.15,0.08,0.19,,0.000000(D),0.000(P),-4.02(D),0.0001(T),0.261,5.036398,3.61,3.61,0.462000,2.027000,9.378000,0.965000,1.000000,1.000000,15.4242
synonymous_variant,PYGB,SILENT,NM_002862.3:p.Ala374Ala/c.1122A>G,gcA/gcG,LOW,COSM443571(4),0.537141,0.9107,rs2227890,,,,,,chr20,25260931,25260931,A,G,hom,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala374Ala/c.1122A>G|843|PYGB|protein_coding|CODING|NM_002862.3|10|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5082,0.3473,0.4334,0.43,0.43,0.44,,,,,,,,,,,,,,,,
missense_variant,PYGB,MISSENSE,NM_002862.3:p.Asp502Asn/c.1504G>A,Gat/Aat,MODERATE,COSM3766614(1),0.162141,0.3502,rs2227891,0.2(T),0.012(B),1.2(L),-1.1236(T),,chr20,25262769,25262769,G,A,hom,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp502Asn/c.1504G>A|843|PYGB|protein_coding|CODING|NM_002862.3|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1176,0.1297,0.1849,0.15,0.08,0.19,,0.000095(D),0.000(P),-3.18(D),0.0000(T),0.172,2.448638,3.93,3.93,0.462000,2.182000,7.572000,0.430000,0.069000,1.000000,16.1009
synonymous_variant,PYGB,SILENT,NM_002862.3:p.Asp565Asp/c.1695T>C,gaT/gaC,LOW,COSM3758497(1),0.536941,0.9107,rs2227892,,,,,,chr20,25264814,25264814,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp565Asp/c.1695T>C|843|PYGB|protein_coding|CODING|NM_002862.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5082,0.3473,0.4334,0.43,0.43,0.44,,,,,,,,,,,,,,,,
synonymous_variant,PYGB,SILENT,NM_002862.3:p.Gln790Gln/c.2370G>A,caG/caA,LOW,COSM3758498(1),0.511581,0.9107,rs1130694,,,,-1.0400(T),,chr20,25276297,25276297,G,A,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln790Gln/c.2370G>A|843|PYGB|protein_coding|CODING|NM_002862.3|19|1),intron_variant(MODIFIER|||c.1158-631C>T|404|ABHD12|protein_coding|CODING|NM_015600.4|12|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.5031,0.3314,0.4264,0.40,0.36,0.43,,,0.000(P),,0.0000(T),.,1.194604,4.64,1.51,0.561000,0.251000,0.237000,0.988000,0.998000,0.491000,5.1835
synonymous_variant,ABHD12,SILENT,NM_015600.4:p.Asp356Asp/c.1068T>C,gaT/gaC,LOW,COSM3758500(1),0.541534,0.9107,rs10966,,,,,,chr20,25282944,25282944,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp356Asp/c.1068T>C|398|ABHD12|protein_coding|CODING|NM_001042472.2|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp356Asp/c.1068T>C|404|ABHD12|protein_coding|CODING|NM_015600.4|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116214.2,,0.5092,0.3516,0.4374,0.44,0.45,0.44,,,,,,,,,,,,,,,,
synonymous_variant,NINL,SILENT,NM_025176.4:p.Ser1013Ser/c.3039T>C,agT/agC,LOW,COSM3758501(1),0.558107,0.9067,rs437635,,,,,,chr20,25456888,25456888,A,G,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser1013Ser/c.3039T>C|1382|NINL|protein_coding|CODING|NM_025176.4|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.5041,0.3559,0.4304,0.46,0.51,0.43,,,,,,,,,,,,,,,,
splice_donor_variant,FRG1B,,NR_003579.1:n.529G>A,,HIGH,COSM3840658(2),,,rs79368216,,,,,,chr20,29625985,29625985,G,A,het,"splice_donor_variant(HIGH|||n.529G>A||FRG1B||NON_CODING|NR_003579.1|4|1),intron_variant(MODIFIER|||n.528+1G>A||FRG1B||NON_CODING|NR_003579.1|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(D),,,.,0.895912,1.68,1.68,0.184000,1.250000,6.364000,0.325000,0.998000,1.000000,9.3557
missense_variant,REM1,MISSENSE,NM_014012.5:p.His28Arg/c.83A>G,cAc/cGc,MODERATE,COSM3773983(3),0.454673,0.2659,rs1006459,0.36(T),0.0(B),0.345(N),-0.9952(T),,chr20,30064331,30064331,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His28Arg/c.83A>G|298|REM1|protein_coding|CODING|NM_014012.5|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2628,0.3386,0.3221,0.48,0.80,0.31,,0.952480(N),0.894(P),-0.15(T),0.0000(T),0.013,-0.010297,4.25,0.213,-0.119000,-0.017000,-0.783000,0.712000,0.662000,0.001000,5.039
synonymous_variant,REM1,SILENT,NM_014012.5:p.Ile191Ile/c.573C>A,atC/atA,LOW,COSM4134413(1),0.141973,0.246,rs2233832,,,,,,chr20,30070239,30070239,C,A,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile191Ile/c.573C>A|298|REM1|protein_coding|CODING|NM_014012.5|4|1),"NHEK:H3K27me3,H1ESC:H3K9me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1789,0.1383,0.0905,0.09,0.10,0.08,,,,,,,,,,,,,,,,
missense_variant,COX4I2,MISSENSE,NM_032609.2:p.Arg161His/c.482G>A,cGc/cAc,MODERATE,,0.0573083,0.001,rs11907253,0.21(T),0.001(B),-0.46(N),-1.0844(T),,chr20,30232673,30232673,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg161His/c.482G>A|171|COX4I2|protein_coding|CODING|NM_032609.2|5|1),"HepG2:H3K27me3,K562:DNase1",,,,0.0245,0.0764,0.0815,0.09,0.09,0.08,,0.015337(N),0.965(P),0.49(T),0.0013(T),0.048,1.615359,4.38,-1.06,-1.305000,-0.361000,1.246000,0.836000,0.583000,0.997000,7.746
synonymous_variant,TPX2,SILENT,NM_012112.4:p.Ser539Ser/c.1617G>C,tcG/tcC,LOW,COSM3758510(1),0.291733,0.001,rs1062794,,,,,,chr20,30381758,30381758,G,C,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser539Ser/c.1617G>C|747|TPX2|protein_coding|CODING|NM_012112.4|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0787,0.2435,0.3161,0.39,0.59,0.29,,,,,,,,,,,,,,,,
synonymous_variant,MYLK2,SILENT,NM_033118.3:p.Ile228Ile/c.684T>C,atT/atC,LOW,,0.0720847,0.001,rs6058469,,,,,,chr20,30409452,30409452,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile228Ile/c.684T>C|596|MYLK2|protein_coding|CODING|NM_033118.3|4|1),HepG2:H3K27me3,,RCV000039791.1|RCV000127043.1,,0.0235,0.0836,0.0815,0.10,0.14,0.08,,,,,,,,,,,,,,,,
missense_variant,DUSP15,MISSENSE,NM_080611.3:p.Val197Leu/c.589G>C,Gtg/Ctg,MODERATE,COSM3749696(3),0.352835,0.004,rs947310,0.79(T),"0.0,0.0(B,B)",,-0.9594(T),,chr20,30449325,30449325,C,G,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val94Leu/c.280G>C|132|DUSP15|protein_coding|CODING|NM_001012644.1|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val197Leu/c.589G>C|235|DUSP15|protein_coding|CODING|NM_080611.3|7|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val94Leu/c.280G>C|132|DUSP15|protein_coding|CODING|NM_177991.1|7|1)","K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:TAF1,HUVEC:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,GM12878:Tcf12,K562:DNase1",,,,0.1084,0.3458,0.4066,0.42,0.60,0.33,,,0.000(P),"1.06,3.96,1.06,3.96,1.06(T,T,T,T,T)",0.0000(T),0.018,-0.406724,3.38,1.28,-1.248000,-0.127000,0.214000,0.596000,0.994000,0.998000,4.2732
synonymous_variant,TTLL9,SILENT,NM_001008409.2:p.His413His/c.1239T>C,caT/caC,LOW,COSM1130663(1),0.42492,0.1171,rs6061043,,,,,,chr20,30527065,30527065,T,C,het,synonymous_variant(LOW|SILENT|caT/caC|p.His413His/c.1239T>C|439|TTLL9|protein_coding|CODING|NM_001008409.2|14|1),"H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2464,0.4006,0.4195,0.52,0.75,0.41,,,,,,,,,,,,,,,,
missense_variant,XKR7,MISSENSE,NM_001011718.1:p.Ala397Val/c.1190C>T,gCg/gTg,MODERATE,,0.0712859,0.0179,rs61750849,0.62(T),0.944(D),1.49(L),-0.9418(T),,chr20,30584710,30584710,C,T,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala397Val/c.1190C>T|579|XKR7|protein_coding|CODING|NM_001011718.1|3|1),"H1ESC:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0491,0.049,0.0706,0.10,0.12,0.08,,0.000002(D),0.000(P),-0.06(T),0.0059(T),0.148,1.897648,5.16,3.21,-0.254000,0.565000,1.068000,0.111000,0.072000,0.377000,8.7001
synonymous_variant,TM9SF4,SILENT,NM_014742.3:p.Thr251Thr/c.753C>A,acC/acA,LOW,,,,,,,,,,chr20,30732994,30732994,C,A,het,synonymous_variant(LOW|SILENT|acC/acA|p.Thr251Thr/c.753C>A|642|TM9SF4|protein_coding|CODING|NM_014742.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,TM9SF4,MISSENSE,NM_014742.3:p.Tyr252His/c.754T>C,Tac/Cac,MODERATE,,,,,0(D),"0.999,0.999,0.992(D,D,D)",3.57(H),0.4978(D),,chr20,30732995,30732995,T,C,het,missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr252His/c.754T>C|642|TM9SF4|protein_coding|CODING|NM_014742.3|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),"-0.5,-0.5(T,T)",0.6356(D),0.968,4.580698,5.51,5.51,0.459000,2.317000,7.297000,0.996000,1.000000,1.000000,14.3548
missense_variant,ASXL1,MISSENSE,NM_015338.5:p.Leu815Pro/c.2444T>C,cTg/cCg,MODERATE,,1,1,rs6058694,0.76(T),"0.0,0.0(B,B)",-0.345(N),-1.0306(T),,chr20,31022959,31022959,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|NM_015338.5|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.078869(N),1.000(P),"2.51,2.51(T,T)",0.0000(T),0.066,0.651586,4.85,-4.18,-1.590000,-1.372000,-0.136000,0.003000,0.000000,0.000000,3.5245
missense_variant,BPIFB2,MISSENSE,NM_025227.2:p.Asp359His/c.1075G>C,Gat/Cat,MODERATE,,0.00938498,0,rs61734341,0.04(D),0.866(P),2.25(M),-1.1571(T),,chr20,31607551,31607551,G,C,het,missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp359His/c.1075G>C|458|BPIFB2|protein_coding|CODING|NM_025227.2|11|1),"HepG2:PolII,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0092,0.0058,0.0328,0.04,0.01,0.05,,0.014598(N),0.912(D),3.12(T),0.0094(T),0.276,3.220116,4.78,2.82,0.561000,0.539000,0.222000,0.941000,0.986000,0.998000,7.76
synonymous_variant,BPIFB2,SILENT,NM_025227.2:p.Val437Val/c.1311C>T,gtC/gtT,LOW,COSM149161(2),0.320288,0.1964,rs17124003,,,,,,chr20,31609581,31609581,C,T,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val437Val/c.1311C>T|458|BPIFB2|protein_coding|CODING|NM_025227.2|15|1),"HepG2:PolII,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3067,0.2118,0.326,0.34,0.44,0.29,,,,,,,,,,,,,,,,
missense_variant,BPIFB6,MISSENSE,NM_174897.2:p.Thr16Met/c.47C>T,aCg/aTg,MODERATE,COSM443647(2),0.0694888,0.0347,rs17301126,0.06(T),0.01(B),1.79(L),-0.9480(T),,chr20,31619500,31619500,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr16Met/c.47C>T|453|BPIFB6|protein_coding|CODING|NM_174897.2|1|1),"HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0552,0.0735,0.1203,0.11,0.07,0.13,,0.615336(N),1.000(P),5.0(T),0.0001(T),0.065,0.892643,4.85,0.681,-0.916000,0.144000,0.012000,0.000000,0.000000,0.000000,7.6426
missense_variant,BPIFB6,MISSENSE,NM_174897.2:p.Val97Ile/c.289G>A,Gtc/Atc,MODERATE,COSM3758517(1),0.569089,0.7579,rs2070317,0.8(T),0.001(B),-1.89(N),-1.0388(T),,chr20,31622083,31622083,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val97Ile/c.289G>A|453|BPIFB6|protein_coding|CODING|NM_174897.2|3|1),"GM12878:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6033,0.5303,0.5179,0.49,0.45,0.51,,0.001117(N),1.000(P),3.66(T),0.0000(T),0.042,0.085670,4.7,4.7,-0.361000,0.649000,2.180000,0.991000,1.000000,1.000000,7.2204
synonymous_variant,BPIFB6,SILENT,NM_174897.2:p.Ser209Ser/c.627C>T,tcC/tcT,LOW,,0.0714856,0.0347,rs17373408,,,,,,chr20,31624300,31624300,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser209Ser/c.627C>T|453|BPIFB6|protein_coding|CODING|NM_174897.2|7|1),"GM06990:H3K27me3,GM12878:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0552,0.0793,0.1312,0.12,0.07,0.14,,,,,,,,,,,,,,,,
missense_variant,BPIFB3,MISSENSE,NM_182658.1:p.Thr290Met/c.869C>T,aCg/aTg,MODERATE,,0.115415,0.0466,rs2093066,0.08(T),0.0(B),0(N),-0.9561(T),,chr20,31652596,31652596,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr290Met/c.869C>T|476|BPIFB3|protein_coding|CODING|NM_182658.1|8|1),"K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.0562,0.0865,0.1322,0.17,0.20,0.15,,0.036936(N),1.000(P),3.18(T),0.0000(T),0.072,0.763733,4.73,4.73,-0.254000,0.848000,2.297000,0.150000,0.728000,0.854000,7.1406
missense_variant,BPIFB3,MISSENSE,NM_182658.1:p.Pro449Ser/c.1345C>T,Ccc/Tcc,MODERATE,,0.133986,0.0476,rs378098,0.01(D),0.999(D),2.71(M),-1.0909(T),,chr20,31660543,31660543,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro449Ser/c.1345C>T|476|BPIFB3|protein_coding|CODING|NM_182658.1|14|1),"GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0573,0.0951,0.1322,0.18,0.24,0.15,,0.000046(D),0.003(P),2.97(T),0.0000(T),0.473,2.711412,4.64,4.64,0.563000,2.389000,3.272000,0.287000,0.998000,0.995000,12.8486
missense_variant,BPIFB4,MISSENSE,NM_182519.2:p.Gly206Trp/c.616G>T,Ggg/Tgg,MODERATE,,0.0632987,0.0466,rs2424943,0(D),0.999(D),1.65(L),-0.9751(T),,chr20,31671619,31671619,G,T,hom,missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly206Trp/c.616G>T|614|BPIFB4|protein_coding|CODING|NM_182519.2|3|1),HepG2:H3K27me3,,,,0.0552,0.0533,0.0905,0.09,0.07,0.10,,0.000067(D),0.081(P),5.03(T),0.0004(T),0.239,3.002716,3.21,3.21,0.407000,1.791000,4.879000,0.907000,0.990000,1.000000,10.0505
synonymous_variant,BPIFB4,SILENT,NM_182519.2:p.Leu209Leu/c.625C>T,Ctg/Ttg,LOW,COSM4134456(1),0.0634984,0.0466,rs2424944,,,,,,chr20,31671628,31671628,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu209Leu/c.625C>T|614|BPIFB4|protein_coding|CODING|NM_182519.2|3|1),HepG2:H3K27me3,,,,0.0552,0.0533,0.0915,0.09,0.07,0.10,,,,,,,,,,,,,,,,
synonymous_variant,BPIFB4,SILENT,NM_182519.2:p.Thr220Thr/c.660T>C,acT/acC,LOW,,0.379193,0.1984,rs2424945,,,,,,chr20,31671663,31671663,T,C,hom,synonymous_variant(LOW|SILENT|acT/acC|p.Thr220Thr/c.660T>C|614|BPIFB4|protein_coding|CODING|NM_182519.2|3|1),HepG2:H3K27me3,,,,0.2873,0.4035,0.333,0.42,0.57,0.34,,,,,,,,,,,,,,,,
missense_variant,BPIFB4,MISSENSE,NM_182519.2:p.Phe527Leu/c.1579T>C,Ttc/Ctc,MODERATE,COSM1685483(1),0.515775,0.247,rs11699009,1(T),0.0(B),-1.7(N),-0.9880(T),,chr20,31688241,31688241,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe527Leu/c.1579T>C|614|BPIFB4|protein_coding|CODING|NM_182519.2|12|1),"HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4755,0.5288,0.6054,0.64,0.68,0.61,,0.000053(N),1.000(P),3.2(T),0.0000(T),0.103,-0.758310,5.77,5.77,-0.119000,1.476000,1.524000,0.006000,0.881000,0.897000,11.0361
missense_variant,BPIFB4,MISSENSE,NM_182519.2:p.Thr533Ile/c.1598C>T,aCa/aTa,MODERATE,,0.472644,0.247,rs11696307,0.3(T),0.0(B),0(N),-1.0344(T),,chr20,31688260,31688260,C,T,hom,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr533Ile/c.1598C>T|614|BPIFB4|protein_coding|CODING|NM_182519.2|12|1),"K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4744,0.5187,0.6044,0.59,0.55,0.61,,0.000474(N),1.000(P),3.3(T),0.0000(T),0.105,0.571892,5.77,4.67,-1.048000,0.463000,1.778000,0.001000,0.899000,1.000000,10.3196
missense_variant,BPIFA3,MISSENSE,NM_178466.4:p.Val136Ile/c.406G>A,Gta/Ata,MODERATE,COSM3758519(2),0.664337,0.8115,rs3818222,1(T),"0.0,0.001(B,B)",-0.55(N),-0.9991(T),,chr20,31812923,31812923,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val100Ile/c.298G>A|218|BPIFA3|protein_coding|CODING|NM_001042439.2|3|1),missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val136Ile/c.406G>A|254|BPIFA3|protein_coding|CODING|NM_178466.4|4|1)","GM12878:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.6575,0.428,0.5229,0.58,0.73,0.51,,0.621586(N),1.000(P),"3.55,3.55(T,T)",0.0000(T),0.021,-1.055829,3.49,-5.46,-0.521000,-1.846000,-1.653000,0.018000,0.000000,0.000000,4.4607
missense_variant,BPIFB1,MISSENSE,NM_033197.2:p.Ile84Val/c.250A>G,Atc/Gtc,MODERATE,COSM443660(3),0.330072,0.245,rs1078761,0.15(T),"0.061,0.061(B,B)",1.735(L),-0.9350(T),,chr20,31876681,31876681,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile84Val/c.250A>G|484|BPIFB1|protein_coding|CODING|NM_033197.2|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1769,0.3934,0.3052,0.34,0.45,0.29,,0.000997(N),1.000(P),"3.14,3.47(T,T)",0.0000(T),0.114,1.033826,5.34,1.84,-1.139000,-0.045000,0.794000,0.000000,0.001000,0.035000,9.3438
synonymous_variant,CDK5RAP1,SILENT,NM_016082.4:p.Thr145Thr/c.435A>G,acA/acG,LOW,COSM3758522(1),0.595647,0.5744,rs291700,,,,,,chr20,31981849,31981849,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr144Thr/c.432A>G|586|CDK5RAP1|protein_coding|CODING|NM_001278167.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr144Thr/c.432A>G|510|CDK5RAP1|protein_coding|CODING|NM_001278168.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr117Thr/c.351A>G|560|CDK5RAP1|protein_coding|CODING|NM_001278169.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr145Thr/c.435A>G|588|CDK5RAP1|protein_coding|CODING|NM_016082.4|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr144Thr/c.432A>G|587|CDK5RAP1|protein_coding|CODING|NM_016408.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.5764,0.659,0.63,0.53,0.69,,,,,,,,,,,,,,,,
missense_variant,CBFA2T2,MISSENSE,NM_005093.3:p.Val21Leu/c.61G>C,Gtt/Ctt,MODERATE,,0.00379393,0,rs149392217,0.8(T),0.0(B),0.345(N),-1.0209(T),,chr20,32162067,32162067,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val21Leu/c.61G>C|604|CBFA2T2|protein_coding|CODING|NM_005093.3|2|1),splice_region_variant(LOW|||c.61G>C|604|CBFA2T2|protein_coding|CODING|NM_005093.3|2|1),intron_variant(MODIFIER|||c.35-32695G>C|595|CBFA2T2|protein_coding|CODING|NM_001032999.2|1|1),intron_variant(MODIFIER|||c.-27+11587G>C|575|CBFA2T2|protein_coding|CODING|NM_001039709.1|1|1)","NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0043,0.0159,0.01,0.00,0.01,,,1.000(N),"0.97,0.97(T,T)",0.0222(T),0.082,0.070300,2.23,0.188,-0.147000,0.067000,0.669000,0.025000,0.019000,0.058000,2.7755
synonymous_variant,CBFA2T2,SILENT,NM_005093.3:p.Pro280Pro/c.840C>T,ccC/ccT,LOW,COSM1130653(2),0.669129,0.754,rs3803939,,,,,,chr20,32212690,32212690,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro271Pro/c.813C>T|595|CBFA2T2|protein_coding|CODING|NM_001032999.2|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro251Pro/c.753C>T|575|CBFA2T2|protein_coding|CODING|NM_001039709.1|6|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro280Pro/c.840C>T|604|CBFA2T2|protein_coding|CODING|NM_005093.3|7|1)","CD4:H2AZ,H1ESC:H3K36me3,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K8ac,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.5767,0.5692,0.4871,0.58,0.78,0.48,,,,,,,,,,,,,,,,
synonymous_variant,NECAB3,SILENT,NM_031232.3:p.Thr142Thr/c.426G>A,acG/acA,LOW,COSM3758526(1),0.295327,0.3909,rs3746460,,,,,,chr20,32248163,32248163,C,T,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr142Thr/c.426G>A|362|NECAB3|protein_coding|CODING|NM_031231.3|6|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr142Thr/c.426G>A|396|NECAB3|protein_coding|CODING|NM_031232.3|6|1),upstream_gene_variant(MODIFIER||1929||153|C20orf144|protein_coding|CODING|NM_080825.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2587,0.2104,0.3181,0.29,0.27,0.30,,,,,,,,,,,,,,,,
missense_variant,PXMP4,MISSENSE,NM_007238.4:p.Val204Ile/c.610G>A,Gtc/Atc,MODERATE,COSM3758528(2),0.625599,0.7837,rs910397,1(T),0.001(B),-0.755(N),-0.9905(T),,chr20,32295541,32295541,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val204Ile/c.610G>A|212|PXMP4|protein_coding|CODING|NM_007238.4|4|1),3_prime_UTR_variant(MODIFIER||195|c.*195G>A|71|PXMP4|protein_coding|CODING|NM_183397.2|3|1)","GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.59,0.5447,0.4811,0.53,0.63,0.48,,0.003059(N),0.000(P),1.01(T),0.0000(T),0.032,-0.969442,5.83,-2.5,-1.272000,-0.405000,0.196000,0.170000,0.990000,0.981000,6.6941
synonymous_variant,ZNF341,SILENT,NM_001282933.1:p.Ala835Ala/c.2505T>C,gcT/gcC,LOW,COSM1565833(4),0.813498,0.9355,rs2626551,,,,,,chr20,32379263,32379263,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala835Ala/c.2505T>C|854|ZNF341|protein_coding|CODING|NM_001282933.1|15|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala745Ala/c.2235T>C|764|ZNF341|protein_coding|CODING|NM_001282935.1|14|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala828Ala/c.2484T>C|847|ZNF341|protein_coding|CODING|NM_032819.4|15|1),intron_variant(MODIFIER|||n.242-3680A>G||ZNF341-AS1||NON_CODING|NR_110623.1|3|1),non_coding_exon_variant(MODIFIER|||n.2670T>C||ZNF341||CODING|NR_104259.1|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7065,0.7493,0.6282,0.73,0.91,0.65,,,,,,,,,,,,,,,,
synonymous_variant,NCOA6,SILENT,NM_014071.3:p.Pro749Pro/c.2247A>G,ccA/ccG,LOW,COSM3758531(1),0.804912,0.7768,rs3787220,,,,,,chr20,33337751,33337751,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro749Pro/c.2247A>G|1070|NCOA6|protein_coding|CODING|NM_001242539.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro749Pro/c.2247A>G|2063|NCOA6|protein_coding|CODING|NM_014071.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6217,0.9366,0.8708,0.84,0.83,0.84,,,,,,,,,,,,,,,,
missense_variant,MYH7B,MISSENSE,NM_020884.4:p.Phe501Tyr/c.1502T>A,tTc/tAc,MODERATE,,0.00259585,0,rs754511,0.06(T),0.997(D),2.455(M),0.4877(D),,chr20,33575677,33575677,T,A,het,missense_variant(MODERATE|MISSENSE|tTc/tAc|p.Phe501Tyr/c.1502T>A|1983|MYH7B|protein_coding|CODING|NM_020884.4|18|1),"H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0,0,0.0129,0.01,0.00,0.01,,0.042867(N),1.000(D),-2.3(D),0.6948(D),0.384,4.577468,3.53,3.53,0.459000,1.849000,7.868000,0.990000,1.000000,1.000000,13.1334
synonymous_variant,MYH7B,SILENT,NM_020884.4:p.Leu762Leu/c.2284T>C,Ttg/Ctg,LOW,,0.785343,0.7867,rs2425009,,,,,,chr20,33578899,33578899,T,C,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu762Leu/c.2284T>C|1983|MYH7B|protein_coding|CODING|NM_020884.4|24|1),upstream_gene_variant(MODIFIER||624|||MIR499B||NON_CODING|NR_039912.1||1),downstream_gene_variant(MODIFIER||599|||MIR499A||NON_CODING|NR_030223.1||1)","IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6728,0.8646,0.7684,0.76,0.82,0.73,,,,,,,,,,,,,,,,
synonymous_variant,MYH7B,SILENT,NM_020884.4:p.Ala859Ala/c.2577G>A,gcG/gcA,LOW,COSM3758533(1),0.396765,0.5546,rs2425012,,,,,,chr20,33581955,33581955,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala859Ala/c.2577G>A|1983|MYH7B|protein_coding|CODING|NM_020884.4|27|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.621,0.4861,0.36,0.22,0.43,,,,,,,,,,,,,,,,
missense_variant,MYH7B,MISSENSE,NM_020884.4:p.Lys1007Glu/c.3019A>G,Aag/Gag,MODERATE,,1,1,rs2425015,1(T),0.0(B),-3.86(N),-0.9016(T),,chr20,33583331,33583331,A,G,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1007Glu/c.3019A>G|1983|MYH7B|protein_coding|CODING|NM_020884.4|28|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.002683(N),0.992(P),-1.64(D),0.0000(T),0.225,1.728772,5.38,5.38,-0.119000,1.534000,7.797000,0.994000,1.000000,1.000000,14.4821
synonymous_variant,MYH7B,SILENT,NM_020884.4:p.Thr1070Thr/c.3210C>T,acC/acT,LOW,COSM4134471(1),0.439497,0.5893,rs3746438,,,,,,chr20,33584289,33584289,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr1070Thr/c.3210C>T|1983|MYH7B|protein_coding|CODING|NM_020884.4|29|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3149,0.6326,0.495,0.40,0.32,0.44,,,,,,,,,,,,,,,,
synonymous_variant,TRPC4AP,SILENT,NM_015638.2:p.Tyr129Tyr/c.387C>T,taC/taT,LOW,,0.78734,0.7847,rs1998233,,,,,,chr20,33657126,33657126,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr129Tyr/c.387C>T|797|TRPC4AP|protein_coding|CODING|NM_015638.2|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr129Tyr/c.387C>T|789|TRPC4AP|protein_coding|CODING|NM_199368.1|3|1)","NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6861,0.8646,0.7684,0.76,0.81,0.73,,,,,,,,,,,,,,,,
missense_variant,UQCC1,MISSENSE,NM_018244.4:p.Arg51Gln/c.152G>A,cGa/cAa,MODERATE,,0.527556,0.7113,rs4911494,0.35(T),"0.004,0.001,0.001,0.0,0.0(B,B,B,B,B)",-0.46(N),-0.9758(T),,chr20,33971914,33971914,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg51Gln/c.152G>A|299|UQCC1|protein_coding|CODING|NM_018244.4|3|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg51Gln/c.152G>A|273|UQCC1|protein_coding|CODING|NM_199487.2|3|1),intron_variant(MODIFIER|||c.130-9855G>A|231|UQCC1|protein_coding|CODING|NM_001184977.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4131,0.7104,0.6203,0.53,0.37,0.61,,0.107256(N),1.000(P),"1.57,1.55,1.45,1.47,0.9,1.5,1.52,1.41(T,T,T,T,T,T,T,T)",0.0000(T),0.204,-0.076667,5.02,-9.24,-1.779000,-1.403000,-0.101000,0.007000,0.000000,0.000000,1.8464
splice_acceptor_variant,CPNE1,protein_coding,NM_001198863.1:c.1237A>G,,HIGH,,0.0303514,0.002,rs2425068,,,,,CPNE1:0.14(7);,chr20,34214723,34214723,T,C,het,"splice_acceptor_variant(HIGH|||c.1237A>G|536|CPNE1|protein_coding|CODING|NM_001198863.1|15|1),splice_region_variant(LOW|||c.1254A>G|542|CPNE1|protein_coding|CODING|NM_003915.5|15|1),splice_region_variant(LOW|||c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152925.2|15|1),splice_region_variant(LOW|||c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152926.2|15|1),splice_region_variant(LOW|||c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152927.2|16|1),splice_region_variant(LOW|||c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152928.2|16|1),splice_region_variant(LOW|||n.1613A>G||CPNE1||CODING|NR_037188.1|17|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln418Gln/c.1254A>G|542|CPNE1|protein_coding|CODING|NM_003915.5|15|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152925.2|15|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152926.2|15|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152927.2|16|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln413Gln/c.1239A>G|537|CPNE1|protein_coding|CODING|NM_152928.2|16|1),intron_variant(MODIFIER|||c.1237-1A>G|536|CPNE1|protein_coding|CODING|NM_001198863.1|14|1),non_coding_exon_variant(MODIFIER|||n.1613A>G||CPNE1||CODING|NR_037188.1|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.0327,0.0908,0.0517,0.05,0.01,0.07,,,1.000(D),,,.,3.384943,5.27,4.18,0.460000,1.032000,4.993000,0.961000,1.000000,1.000000,10.073
synonymous_variant,SOGA1,SILENT,NM_080627.2:p.Gly1183Gly/c.3549C>A,ggC/ggA,LOW,COSM4134494(1),0.0423323,0,rs35707272,,,,,,chr20,35422936,35422936,G,T,het,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly1183Gly/c.3549C>A|1661|SOGA1|protein_coding|CODING|NM_080627.2|14|1),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly945Gly/c.2835C>A|1016|SOGA1|protein_coding|CODING|NM_199181.2|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0143,0.0807,0.1272,0.08,0.02,0.11,,,,,,,,,,,,,,,,
missense_variant,SOGA1,MISSENSE,NM_080627.2:p.Phe66Ser/c.197T>C,tTc/tCc,MODERATE,,1,1,rs6029806,0.83(T),,,-0.9585(T),,chr20,35491551,35491551,A,G,hom,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe66Ser/c.197T>C|1661|SOGA1|protein_coding|CODING|NM_080627.2|1|1),"K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,1,1,,,,,,0.099(P),2.35(T),0.0000(T),0.016,-1.377937,2.43,2.43,-1.670000,0.012000,-0.022000,0.095000,0.638000,0.002000,7.1517
missense_variant,MROH8,MISSENSE,NM_152503.5:p.Ile509Thr/c.1526T>C,aTc/aCc,MODERATE,,0.301118,0.0119,rs8115854,,,1.01(L),-0.9223(T),,chr20,35766337,35766337,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile509Thr/c.1526T>C|1042|MROH8|protein_coding|CODING|NM_152503.5|12|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile509Thr/c.1526T>C|598|MROH8|protein_coding|CODING|NM_213631.2|12|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile474Thr/c.1421T>C|563|MROH8|protein_coding|CODING|NM_213632.2|11|1|WARNING_TRANSCRIPT_INCOMPLETE)",,Hippocampal_atrophy,,,0.2423,0.2565,0.3588,0.41,0.50,0.36,,,1.000(P),,0.0000(T),.,0.699311,5.49,0.232,-0.460000,0.041000,0.334000,0.664000,0.016000,0.114000,3.859
missense_variant,MROH8,MISSENSE,NM_152503.5:p.Lys488Glu/c.1462A>G,Aaa/Gaa,MODERATE,,0.766773,0.505,rs1744769,,,,-1.0286(T),,chr20,35769592,35769592,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys488Glu/c.1462A>G|1042|MROH8|protein_coding|CODING|NM_152503.5|11|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys488Glu/c.1462A>G|598|MROH8|protein_coding|CODING|NM_213631.2|11|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys453Glu/c.1357A>G|563|MROH8|protein_coding|CODING|NM_213632.2|10|1|WARNING_TRANSCRIPT_INCOMPLETE)",NHEK:H3K27me3,,,,0.7372,0.755,0.8002,0.86,0.93,0.82,,,0.000(P),,0.0000(T),.,0.120278,6.01,1.56,-0.735000,0.161000,-0.222000,0.375000,0.994000,0.737000,5.5814
missense_variant,MROH8,MISSENSE,NM_152503.5:p.His211Arg/c.632A>G,cAt/cGt,MODERATE,,0.0946486,0.0079,rs62621241,,,1.995(M),-1.0253(T),,chr20,35796541,35796541,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His211Arg/c.632A>G|1042|MROH8|protein_coding|CODING|NM_152503.5|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His211Arg/c.632A>G|598|MROH8|protein_coding|CODING|NM_213631.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His211Arg/c.632A>G|563|MROH8|protein_coding|CODING|NM_213632.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)",HepG2:H3K36me3,,,,0.1074,0.072,0.1223,0.13,0.14,0.12,,,0.975(P),,0.0003(T),.,3.384407,6.02,6.02,0.528000,2.304000,3.636000,0.012000,0.958000,0.999000,12.9338
synonymous_variant,RPN2,SILENT,NM_002951.3:p.Leu609Leu/c.1825C>T,Ctg/Ttg,LOW,COSM4134509(1),0.69369,0.4712,rs4608,,,,,,chr20,35865054,35865054,C,T,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu577Leu/c.1729C>T|615|RPN2|protein_coding|CODING|NM_001135771.1|15|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu609Leu/c.1825C>T|631|RPN2|protein_coding|CODING|NM_002951.3|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.729,0.7147,0.7952,0.80,0.78,0.82,,,,,,,,,,,,,,,,
synonymous_variant,SRC,SILENT,NM_005417.4:p.Ala406Ala/c.1218G>C,gcG/gcC,LOW,,1,1,rs1885257,,,,,,chr20,36030939,36030939,G,C,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala406Ala/c.1218G>C|536|SRC|protein_coding|CODING|NM_005417.4|12|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala406Ala/c.1218G>C|536|SRC|protein_coding|CODING|NM_198291.2|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1755,SILENT,NM_001029864.1:p.Ser1097Ser/c.3291A>G,tcA/tcG,LOW,COSM149170(2),0.393371,0.5238,rs1534967,,,,,,chr20,36841756,36841756,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1097Ser/c.3291A>G|1200|KIAA1755|protein_coding|CODING|NM_001029864.1|14|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3845,0.4424,0.4344,0.39,0.27,0.46,,,,,,,,,,,,,,,,
missense_variant,KIAA1755,MISSENSE,NM_001029864.1:p.Arg1045Trp/c.3133C>T,Cgg/Tgg,MODERATE,COSM3758557(2),0.329872,0.4524,rs3746471,0.17(T),0.001(B),0.895(L),-0.9377(T),,chr20,36841914,36841914,G,A,het,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg1045Trp/c.3133C>T|1200|KIAA1755|protein_coding|CODING|NM_001029864.1|14|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.3292,0.4121,0.4235,0.35,0.17,0.45,,0.340794(N),0.986(P),3.24(T),0.0000(T),0.053,0.977444,5.29,3.3,0.561000,1.468000,1.844000,0.208000,0.866000,0.976000,8.5627
synonymous_variant,KIAA1755,SILENT,NM_001029864.1:p.Ala588Ala/c.1764C>T,gcC/gcT,LOW,,0.260184,0.2778,rs1205418,,,,,,chr20,36859711,36859711,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala588Ala/c.1764C>T|1200|KIAA1755|protein_coding|CODING|NM_001029864.1|5|1),"GM06990:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.2648,0.2219,0.2833,0.29,0.27,0.30,,,,,,,,,,,,,,,,
missense_variant,KIAA1755,MISSENSE,NM_001029864.1:p.Thr524Ile/c.1571C>T,aCa/aTa,MODERATE,,0.00239617,0,rs11699859,0.53(T),0.994(D),1.725(L),-1.1234(T),,chr20,36868106,36868106,G,A,het,missense_variant(MODERATE|MISSENSE|aCa/aTa|p.Thr524Ile/c.1571C>T|1200|KIAA1755|protein_coding|CODING|NM_001029864.1|4|1),"IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.0031,0.0043,0.005,0.01,0.00,0.01,,0.015797(N),0.730(N),3.37(T),0.0247(T),0.21,0.847418,4.43,3.48,0.456000,2.466000,2.983000,0.799000,1.000000,1.000000,7.6616
missense_variant,KIAA1755,MISSENSE,NM_001029864.1:p.Lys339Asn/c.1017G>T,aaG/aaT,MODERATE,COSM3758560(1),0.257788,0.2679,rs1205434,0.03(D),0.01(B),1.935(M),-1.0431(T),,chr20,36869516,36869516,C,A,het,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys339Asn/c.1017G>T|1200|KIAA1755|protein_coding|CODING|NM_001029864.1|3|1),"NH-A:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3098,0.2262,0.3201,0.29,0.20,0.33,,0.091427(N),0.989(P),-0.05(T),0.0000(T),0.015,2.985908,5.23,3.13,0.655000,1.403000,0.488000,0.122000,0.824000,0.003000,7.9862
synonymous_variant,KIAA1755,SILENT,NM_001029864.1:p.Pro137Pro/c.411A>C,ccA/ccC,LOW,COSM3758561(1),0.264776,0.2728,rs1205435,,,,,,chr20,36870122,36870122,T,G,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro137Pro/c.411A>C|1200|KIAA1755|protein_coding|CODING|NM_001029864.1|3|1),"NH-A:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3119,0.2262,0.3191,0.29,0.21,0.33,,,,,,,,,,,,,,,,
missense_variant,BPI,MISSENSE,NM_001725.2:p.Ala16Val/c.47C>T,gCg/gTg,MODERATE,COSM4001898(1),0.43131,0.5764,rs1341023,0.62(T),0.098(B),1.78(L),-0.9479(T),,chr20,36932660,36932660,C,T,hom,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala16Val/c.47C>T|487|BPI|protein_coding|CODING|NM_001725.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4703,0.5245,0.5437,0.43,0.22,0.54,,0.206700(N),1.000(P),"1.48,3.29(T,T)",0.0000(T),0.28,2.161549,3.78,2.84,-0.126000,1.190000,1.496000,0.001000,0.055000,0.821000,7.6199
synonymous_variant,BPI,SILENT,NM_001725.2:p.Leu21Leu/c.63G>C,ctG/ctC,LOW,,0.434704,0.5823,rs1341024,,,,,,chr20,36932676,36932676,G,C,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu21Leu/c.63G>C|487|BPI|protein_coding|CODING|NM_001725.2|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4724,0.5274,0.5447,0.43,0.22,0.54,,,,,,,,,,,,,,,,
synonymous_variant,LBP,SILENT,NM_004139.4:p.Ser204Ser/c.612G>A,tcG/tcA,LOW,,0.649361,0.8819,rs2232596,,,,,,chr20,36989381,36989381,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser204Ser/c.612G>A|481|LBP|protein_coding|CODING|NM_004139.4|6|1),,,,,0.6524,0.5375,0.4901,0.55,0.62,0.51,,,,,,,,,,,,,,,,
synonymous_variant,ACTR5,SILENT,NM_024855.3:p.Phe6Phe/c.18C>T,ttC/ttT,LOW,COSM3749702(16),0.245008,0.2679,rs2254105,,,,,,chr20,37377139,37377139,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe6Phe/c.18C>T|607|ACTR5|protein_coding|CODING|NM_024855.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,HepG2:SP1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,GM12878:ZEB1,NH-A:H3K27ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.272,0.2334,0.2565,,,,,,,,,,,,,,,,,,,
synonymous_variant,ACTR5,SILENT,NM_024855.3:p.Asn272Asn/c.816T>C,aaT/aaC,LOW,,0.239217,0.2669,rs2748663,,,,,,chr20,37383640,37383640,T,C,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn272Asn/c.816T>C|607|ACTR5|protein_coding|CODING|NM_024855.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2434,0.2334,0.2565,0.25,0.21,0.26,,,,,,,,,,,,,,,,
missense_variant,ACTR5,MISSENSE,NM_024855.3:p.Ile483Val/c.1447A>G,Att/Gtt,MODERATE,,0.433307,0.4107,rs2245231,0.67(T),0.001(B),0.935(L),-1.0645(T),,chr20,37396120,37396120,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile483Val/c.1447A>G|607|ACTR5|protein_coding|CODING|NM_024855.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4008,0.4337,0.4245,0.44,0.46,0.43,,0.792952(N),1.000(P),-3.45(D),0.0000(T),0.01,-1.792507,5.81,-1.73,-0.735000,-0.376000,0.095000,0.350000,0.001000,0.002000,9.6102
missense_variant,DHX35,MISSENSE,NM_021931.3:p.Ile189Thr/c.566T>C,aTt/aCt,MODERATE,,0.014976,0.001,rs36053162,0.01(D),"0.596,0.002(P,B)",1.29(L),-1.1343(T),,chr20,37621052,37621052,T,C,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile158Thr/c.473T>C|672|DHX35|protein_coding|CODING|NM_001190809.1|6|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile189Thr/c.566T>C|703|DHX35|protein_coding|CODING|NM_021931.3|7|1),non_coding_exon_variant(MODIFIER|||n.616T>C||DHX35||CODING|NR_033905.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0274,0.0388,0.03,0.01,0.04,,0.000000(D),1.000(D),"3.08,3.08,3.08,3.08(T,T,T,T)",0.0079(T),0.335,2.567971,5.72,4.63,-0.274000,0.989000,5.155000,0.910000,1.000000,1.000000,11.5307
missense_variant,PLCG1,MISSENSE,NM_002660.2:p.Ile813Thr/c.2438T>C,aTc/aCc,MODERATE,,0.732827,0.8075,rs386611104,1(T),"0.0,0.0,0.0(B,B,B)",-0.82(N),-0.9383(T),,chr20,39797465,39797465,T,C,het,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile813Thr/c.2438T>C|1291|PLCG1|protein_coding|CODING|NM_002660.2|21|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile813Thr/c.2438T>C|1290|PLCG1|protein_coding|CODING|NM_182811.1|21|1),upstream_gene_variant(MODIFIER||198|||MIR6871||NON_CODING|NR_106931.1||1)","H1ESC:H3K36me3,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5838,0.6398,0.5398,0.67,0.92,0.54,,0.000001(N),0.999(P),"0.91,0.91,0.91(T,T,T)",0.0000(T),0.074,1.335060,5.82,5.82,-0.119000,1.486000,1.012000,0.982000,1.000000,0.708000,15.181
synonymous_variant,PTPRT,SILENT,NM_133170.3:p.Asp353Asp/c.1059T>C,gaT/gaC,LOW,COSM3758576(2),0.384784,0.3462,rs2425516,,,,,,chr20,41306600,41306600,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp353Asp/c.1059T>C|1441|PTPRT|protein_coding|CODING|NM_007050.5|7|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp353Asp/c.1059T>C|1460|PTPRT|protein_coding|CODING|NM_133170.3|7|1)",HepG2:H3K27me3,,,,0.3211,0.4337,0.3529,0.38,0.44,0.35,,,,,,,,,,,,,,,,
missense_variant,PTPRT,MISSENSE,NM_133170.3:p.Ala29Pro/c.85G>C,Gca/Cca,MODERATE,,0.711062,0.8393,rs2867655,0.06(T),"0.008,0.003(B,B)",0(N),-1.0323(T),,chr20,41818289,41818289,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala29Pro/c.85G>C|1441|PTPRT|protein_coding|CODING|NM_007050.5|1|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala29Pro/c.85G>C|1460|PTPRT|protein_coding|CODING|NM_133170.3|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8967,0.8617,0.8668,,,,,0.009601(U),0.887(P),"1.3,1.3,1.3,1.31,1.3,1.29,1.3(T,T,T,T,T,T,T)",0.0000(T),0.42,2.968175,2.81,2.81,0.561000,1.259000,1.472000,0.986000,1.000000,1.000000,9.3379
synonymous_variant,SRSF6,SILENT,NM_006275.5:p.Pro281Pro/c.843T>C,ccT/ccC,LOW,,0.821685,0.6865,rs2235611,,,,,,chr20,42089511,42089511,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro281Pro/c.843T>C|344|SRSF6|protein_coding|CODING|NM_006275.5|6|1),non_coding_exon_variant(MODIFIER|||n.1281T>C||SRSF6||CODING|NR_034009.1|7|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:HEY1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.9438,0.8638,0.89,0.96,0.85,,,,,,,,,,,,,,,,
synonymous_variant,IFT52,SILENT,NM_016004.2:p.Val53Val/c.159G>A,gtG/gtA,LOW,,0.744409,0.7927,rs2664519,,,,,,chr20,42225114,42225114,G,A,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val53Val/c.159G>A|437|IFT52|protein_coding|CODING|NM_016004.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7863,0.7882,0.826,0.74,0.64,0.80,,,,,,,,,,,,,,,,
synonymous_variant,MYBL2,SILENT,NM_002466.3:p.Pro302Pro/c.906T>C,ccT/ccC,LOW,,0.932109,0.8998,rs285162,,,,,,chr20,42328639,42328639,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro278Pro/c.834T>C|676|MYBL2|protein_coding|CODING|NM_001278610.1|6|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro302Pro/c.906T>C|700|MYBL2|protein_coding|CODING|NM_002466.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9305,0.8602,0.9433,0.94,0.97,0.92,,,,,,,,,,,,,,,,
missense_variant,MYBL2,MISSENSE,NM_002466.3:p.Ser427Gly/c.1279A>G,Agc/Ggc,MODERATE,COSM4134571(1),0.15655,0.1002,rs2070235,0.41(T),"0.004,0.192(B,B)",0(N),-0.9028(T),,chr20,42331457,42331457,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser403Gly/c.1207A>G|676|MYBL2|protein_coding|CODING|NM_001278610.1|7|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser427Gly/c.1279A>G|700|MYBL2|protein_coding|CODING|NM_002466.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1278,0.0807,0.0885,0.15,0.28,0.09,,0.019356(N),0.480(P),"2.52,2.53(T,T)",0.0000(T),0.033,0.919897,4.99,2.73,0.379000,0.867000,2.611000,0.736000,0.999000,1.000000,6.8685
synonymous_variant,JPH2,SILENT,NM_020433.4:p.Phe691Phe/c.2073T>C,ttT/ttC,LOW,COSM3758581(1),0.257388,0.1101,rs6093935,,,,,,chr20,42743454,42743454,A,G,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe691Phe/c.2073T>C|696|JPH2|protein_coding|CODING|NM_020433.4|5|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0961,0.219,0.3101,0.35,0.45,0.31,,,,,,,,,,,,,,,,
synonymous_variant,JPH2,SILENT,NM_020433.4:p.Tyr52Tyr/c.156C>T,taC/taT,LOW,,0.854233,0.745,rs1883790,,,,,,chr20,42815190,42815190,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr52Tyr/c.156C>T|696|JPH2|protein_coding|CODING|NM_020433.4|1|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr52Tyr/c.156C>T|129|JPH2|protein_coding|CODING|NM_175913.3|1|1)","NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,K562:H3K27me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.8221,0.8948,0.827,0.87,0.94,0.83,,,,,,,,,,,,,,,,
synonymous_variant,OSER1,SILENT,NM_016470.7:p.Leu138Leu/c.414C>G,ctC/ctG,LOW,,0.00599042,0.005,rs139064502,,,,,,chr20,42826157,42826157,G,C,het,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu138Leu/c.414C>G|292|OSER1|protein_coding|CODING|NM_016470.7|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0153,0.0058,0.006,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,OSER1,MISSENSE,NM_016470.7:p.Val74Gly/c.221T>G,gTg/gGg,MODERATE,,0.353634,0.4196,rs9346,0.02(D),0.119(B),1.67(L),-0.9366(T),,chr20,42826350,42826350,A,C,het,missense_variant(MODERATE|MISSENSE|gTg/gGg|p.Val74Gly/c.221T>G|292|OSER1|protein_coding|CODING|NM_016470.7|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.1354,0.1531,0.27,0.51,0.14,,0.197362(N),0.000(P),"0.57,0.57(T,T)",0.0000(T),0.201,1.992149,5.72,1.03,0.383000,0.116000,1.618000,0.919000,0.992000,0.533000,9.1613
synonymous_variant,FITM2,SILENT,NM_001080472.2:p.Gly13Gly/c.39A>G,ggA/ggG,LOW,,1,1,rs6073401,,,,,,chr20,42939750,42939750,T,C,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly13Gly/c.39A>G|262|FITM2|protein_coding|CODING|NM_001080472.2|1|1),"GM12878:Cmyc,NHEK:CTCF,NHEK:H3K9ac,CD4:H2AZ,K562:Max,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,K562:CTCF,HUVEC:PolII,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,CD4:H4K8ac,HepG2:H3K27ac,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HSMM:CTCF,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,K562:Znf263,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,K562:Cmyc,HMEC:CTCF,HUVEC:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,NH-A:CTCF,HepG2:HNF4A,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,CD4:CTCF,HeLa-S3:Ini1,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Nrsf,GM12878:DNase1,HepG2:H3K27me3,HeLa-S3:Nrf1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,GM12878:Nrsf,K562:Srf,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM12878:H2AZ,HeLa-S3:E2F6,GM06990:CTCF",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,R3HDML,SILENT,NM_178491.3:p.Asn22Asn/c.66C>T,aaC/aaT,LOW,COSM3758583(3),0.159345,0.0913,rs3746570,,,,,,chr20,42965863,42965863,C,T,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn22Asn/c.66C>T|253|R3HDML|protein_coding|CODING|NM_178491.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2076,0.2392,0.1551,0.15,0.15,0.15,,,,,,,,,,,,,,,,
synonymous_variant,R3HDML,SILENT,NM_178491.3:p.Ser76Ser/c.228T>C,agT/agC,LOW,COSM3758584(2),0.246805,0.0982,rs1884612,,,,,,chr20,42966025,42966025,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser76Ser/c.228T>C|253|R3HDML|protein_coding|CODING|NM_178491.3|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2679,0.3516,0.2962,0.28,0.27,0.29,,,,,,,,,,,,,,,,
synonymous_variant,R3HDML,SILENT,NM_178491.3:p.Cys182Cys/c.546T>C,tgT/tgC,LOW,COSM443866(2),0.0652955,0,rs11697359,,,,,,chr20,42973935,42973935,T,C,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys182Cys/c.546T>C|253|R3HDML|protein_coding|CODING|NM_178491.3|4|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0634,0.1037,0.1461,0.11,0.05,0.14,,,,,,,,,,,,,,,,
synonymous_variant,PABPC1L,SILENT,NM_001124756.1:p.Ser577Ser/c.1731A>G,tcA/tcG,LOW,,0.446685,0.3631,rs11780,0(D),,,-0.9519(T),,chr20,43566787,43566787,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser577Ser/c.1731A>G|614|PABPC1L|protein_coding|CODING|NM_001124756.1|13|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3078,0.464,0.3708,0.44,0.62,0.37,,,0.000(P),,0.0000(T),.,1.135406,4.72,-2.55,-0.930000,-0.298000,-2.978000,0.981000,0.990000,0.000000,2.7459
missense_variant,KCNS1,MISSENSE,NM_002251.3:p.Ile489Val/c.1465A>G,Att/Gtt,MODERATE,COSM149178(3),0.40655,0.2143,rs386609467,1(T),0.0(B),-0.695(N),-1.0187(T),,chr20,43723627,43723627,T,C,het,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile489Val/c.1465A>G|526|KCNS1|protein_coding|CODING|NM_002251.3|5|1),"H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.273,0.3833,0.4642,0.49,0.57,0.45,,0.439721(N),1.000(P),"-3.9,-3.9(D,D)",0.0000(T),0.015,-0.543409,5.57,0.293,-0.974000,-0.404000,-0.710000,0.307000,0.005000,0.000000,6.1247
missense_variant,WFDC5,MISSENSE,NM_145652.3:p.His97Tyr/c.289C>T,Cac/Tac,MODERATE,,0.0734824,0.0288,rs17422688,0.17(T),0.657(P),0.645(N),-1.0584(T),,chr20,43739119,43739119,G,A,het,missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His97Tyr/c.289C>T|123|WFDC5|protein_coding|CODING|NM_145652.3|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1043,0.0764,0.16,0.13,0.04,0.17,,0.086740(N),1.000(P),"-0.6,-0.6(T,T)",0.0008(T),0.089,3.217685,5.08,-3.96,0.467000,-0.253000,-0.226000,0.163000,0.039000,0.004000,2.352
missense_variant,PI3,MISSENSE,NM_002638.3:p.Thr17Met/c.50C>T,aCg/aTg,MODERATE,COSM1178471(2),0.105831,0.0268,rs17333103,0.34(T),0.019(B),-0.205(N),-1.0335(T),,chr20,43803613,43803613,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr17Met/c.50C>T|117|PI3|protein_coding|CODING|NM_002638.3|1|1),"HeLa-S3:Cmyc,HeLa-S3:DNase1,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,HeLa-S3:Max,HeLa-S3:H3K9ac,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K27ac,HMEC:DNase1,HepG2:H3K27me3",,,,0.1319,0.0879,0.162,0.16,0.13,0.18,,0.108649(N),1.000(P),1.72(T),0.0001(T),0.041,0.261014,3.9,-5.75,-1.166000,-1.099000,-2.102000,0.033000,0.000000,0.000000,5.7959
missense_variant,PI3,MISSENSE,NM_002638.3:p.Thr34Pro/c.100A>C,Act/Cct,MODERATE,COSM4001913(1),0.107228,0.0268,rs2664581,0.71(T),0.012(B),1.15(L),-1.0306(T),,chr20,43804522,43804522,A,C,het,missense_variant(MODERATE|MISSENSE|Act/Cct|p.Thr34Pro/c.100A>C|117|PI3|protein_coding|CODING|NM_002638.3|2|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1299,0.0951,0.167,0.16,0.13,0.18,,0.531676(N),1.000(P),1.01(T),0.0001(T),0.049,0.607461,3.6,-5.09,0.533000,-1.163000,-2.385000,0.392000,0.000000,0.000000,0.7426
missense_variant,SEMG1,MISSENSE,NM_003007.3:p.Ser79Thr/c.235T>A,Tcc/Acc,MODERATE,COSM149179(2),0.28095,0.0913,rs2301366,1(T),"0.0,0.0,0.001(B,B,B)",-2.535(N),-0.9679(T),,chr20,43836173,43836173,T,A,het,missense_variant(MODERATE|MISSENSE|Tcc/Acc|p.Ser79Thr/c.235T>A|462|SEMG1|protein_coding|CODING|NM_003007.3|2|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1728,0.3256,0.1988,0.30,0.47,0.21,,,1.000(P),"3.89,3.89(T,T)",0.0000(T),0.027,-2.180094,1.3,-0.029,-0.375000,-0.543000,-0.394000,0.001000,0.000000,0.000000,2.1602
missense_variant,SEMG2,MISSENSE,NM_003008.2:p.Gln43Lys/c.127C>A,Caa/Aaa,MODERATE,COSM1412026(1),0.0992412,0.0317,rs2233896,0.27(T),"0.098,0.142(B,B)",1.895(L),-0.9410(T),,chr20,43850400,43850400,C,A,het,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln43Lys/c.127C>A|582|SEMG2|protein_coding|CODING|NM_003008.2|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1247,0.0922,0.161,0.15,0.11,0.18,,,1.000(P),3.25(T),0.0000(T),0.066,0.433764,1.88,-3.76,-0.474000,-1.111000,-1.632000,0.000000,0.000000,0.000000,0.7148
synonymous_variant,SEMG2,SILENT,NM_003008.2:p.Gln84Gln/c.252A>G,caA/caG,LOW,COSM1412027(3),0.0992412,0.0317,rs2233898,,,,,,chr20,43850525,43850525,A,G,het,synonymous_variant(LOW|SILENT|caA/caG|p.Gln84Gln/c.252A>G|582|SEMG2|protein_coding|CODING|NM_003008.2|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1247,0.0922,0.161,0.15,0.11,0.18,,,,,,,,,,,,,,,,
missense_variant,SEMG2,MISSENSE,NM_003008.2:p.Ser274Asn/c.821G>A,aGt/aAt,MODERATE,COSM4001914(1),0.115016,0.0317,rs2233901,1(T),"0.002,0.001(B,B)",-1.15(N),-0.9348(T),,chr20,43851094,43851094,G,A,het,missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser274Asn/c.821G>A|582|SEMG2|protein_coding|CODING|NM_003008.2|2|1),"HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1288,0.1023,0.165,0.17,0.15,0.18,,,1.000(P),3.92(T),0.0000(T),0.012,-1.941378,1.72,1.72,-0.254000,0.131000,0.067000,0.004000,0.002000,0.000000,3.638
synonymous_variant,MATN4,SILENT,NM_003833.4:p.Val105Val/c.315G>A,gtG/gtA,LOW,COSM3758595(1),0.171326,0.0159,rs2233093,,,,,,chr20,43933196,43933196,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val105Val/c.315G>A|581|MATN4|protein_coding|CODING|NM_003833.4|4|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val105Val/c.315G>A|540|MATN4|protein_coding|CODING|NM_030590.3|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val105Val/c.315G>A|499|MATN4|protein_coding|CODING|NM_030592.3|3|1)","HUVEC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.137,0.1556,0.2087,0.24,0.28,0.22,,,,,,,,,,,,,,,,
synonymous_variant,RBPJL,SILENT,NM_014276.3:p.Pro384Pro/c.1152G>T,ccG/ccT,LOW,COSM3758597(1),0.111222,0.0169,rs2741500,,,,,,chr20,43944958,43944958,G,T,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro384Pro/c.1152G>T|471|RBPJL|protein_coding|CODING|NM_001281448.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro384Pro/c.1152G>T|516|RBPJL|protein_coding|CODING|NM_001281449.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro384Pro/c.1152G>T|517|RBPJL|protein_coding|CODING|NM_014276.3|10|1)","HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1258,0.1297,0.1988,0.18,0.11,0.21,,,,,,,,,,,,,,,,
missense_variant,TP53TG5,MISSENSE,NM_014477.2:p.Arg57His/c.170G>A,cGc/cAc,MODERATE,,0.201278,0.2897,rs2231616,0.2(T),0.008(B),1.15(L),-0.9444(T),,chr20,44005936,44005936,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg57His/c.170G>A|290|TP53TG5|protein_coding|CODING|NM_014477.2|3|1),downstream_gene_variant(MODIFIER||494||76|SYS1|protein_coding|CODING|NM_001099791.2||1),intron_variant(MODIFIER|||n.380+11610C>T||SYS1-DBNDD2||NON_CODING|NR_003189.2|3|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3395,0.2579,0.1123,0.12,0.10,0.13,,0.301018(N),1.000(P),"2.54,2.54(T,T)",0.0000(T),0.033,1.438782,5.52,-2.06,-0.176000,-0.161000,-1.108000,0.771000,0.007000,0.015000,9.6207
missense_variant,DBNDD2,MISSENSE,NM_001048225.2:p.Met196Val/c.586A>G,Atg/Gtg,MODERATE,,0.761182,0.5109,rs1127497,0.53(T),0.0(B),-0.895(N),-1.0322(T),,chr20,44038574,44038574,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met94Val/c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001048221.2|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met94Val/c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001048223.2|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met196Val/c.586A>G|263|DBNDD2|protein_coding|CODING|NM_001048225.2|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met94Val/c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001197139.1|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met94Val/c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001197140.1|4|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met192Val/c.574A>G|259|DBNDD2|protein_coding|CODING|NM_018478.3|4|1),splice_region_variant(LOW|||c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001048221.2|4|1),splice_region_variant(LOW||||112|DBNDD2|protein_coding|CODING|NM_001048222.2|4|1),splice_region_variant(LOW|||c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001048223.2|4|1),splice_region_variant(LOW||||112|DBNDD2|protein_coding|CODING|NM_001048224.2|4|1),splice_region_variant(LOW|||c.586A>G|263|DBNDD2|protein_coding|CODING|NM_001048225.2|3|1),splice_region_variant(LOW||||214|DBNDD2|protein_coding|CODING|NM_001048226.2|3|1),splice_region_variant(LOW|||c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001197139.1|4|1),splice_region_variant(LOW|||c.280A>G|161|DBNDD2|protein_coding|CODING|NM_001197140.1|4|1),splice_region_variant(LOW|||c.574A>G|259|DBNDD2|protein_coding|CODING|NM_018478.3|4|1),splice_region_variant(LOW|||n.668A>G||SYS1-DBNDD2||NON_CODING|NR_003189.2|6|1),3_prime_UTR_variant(MODIFIER||934|c.*39A>G|112|DBNDD2|protein_coding|CODING|NM_001048222.2|4|1),3_prime_UTR_variant(MODIFIER||934|c.*39A>G|112|DBNDD2|protein_coding|CODING|NM_001048224.2|4|1),3_prime_UTR_variant(MODIFIER||934|c.*39A>G|214|DBNDD2|protein_coding|CODING|NM_001048226.2|3|1),non_coding_exon_variant(MODIFIER|||n.668A>G||SYS1-DBNDD2||NON_CODING|NR_003189.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7975,0.7738,0.7803,0.84,0.90,0.81,,0.055701(N),0.000(P),"1.69,1.69,1.65,1.69,1.69,1.63(T,T,T,T,T,T)",0.0000(T),0.015,1.685725,5.63,2.6,-0.279000,0.058000,0.144000,0.741000,0.977000,0.498000,6.8441
synonymous_variant,PIGT,SILENT,NM_015937.5:p.Tyr540Tyr/c.1620T>C,taT/taC,LOW,COSM1483679(2),0.709665,0.5466,rs707577,,,,,,chr20,44054349,44054349,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr484Tyr/c.1452T>C|522|PIGT|protein_coding|CODING|NM_001184728.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr473Tyr/c.1419T>C|511|PIGT|protein_coding|CODING|NM_001184729.2|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr438Tyr/c.1314T>C|476|PIGT|protein_coding|CODING|NM_001184730.2|10|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr540Tyr/c.1620T>C|578|PIGT|protein_coding|CODING|NM_015937.5|12|1),downstream_gene_variant(MODIFIER||136|||MIR6812||NON_CODING|NR_106870.1||1),non_coding_exon_variant(MODIFIER|||n.1670T>C||PIGT||CODING|NR_047691.1|12|1),non_coding_exon_variant(MODIFIER|||n.1613T>C||PIGT||CODING|NR_047692.1|11|1),non_coding_exon_variant(MODIFIER|||n.1609T>C||PIGT||CODING|NR_047693.1|11|1),non_coding_exon_variant(MODIFIER|||n.1532T>C||PIGT||CODING|NR_047694.1|11|1),non_coding_exon_variant(MODIFIER|||n.1303T>C||PIGT||CODING|NR_047695.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6933,0.7061,0.7505,0.77,0.80,0.76,,,,,,,,,,,,,,,,
synonymous_variant,PIGT,SILENT,NM_015937.5:p.Arg564Arg/c.1692G>T,cgG/cgT,LOW,,,,,,,,,,chr20,44054421,44054421,G,T,het,"synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg508Arg/c.1524G>T|522|PIGT|protein_coding|CODING|NM_001184728.2|11|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg497Arg/c.1491G>T|511|PIGT|protein_coding|CODING|NM_001184729.2|11|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg462Arg/c.1386G>T|476|PIGT|protein_coding|CODING|NM_001184730.2|10|1),synonymous_variant(LOW|SILENT|cgG/cgT|p.Arg564Arg/c.1692G>T|578|PIGT|protein_coding|CODING|NM_015937.5|12|1),downstream_gene_variant(MODIFIER||208|||MIR6812||NON_CODING|NR_106870.1||1),non_coding_exon_variant(MODIFIER|||n.1742G>T||PIGT||CODING|NR_047691.1|12|1),non_coding_exon_variant(MODIFIER|||n.1685G>T||PIGT||CODING|NR_047692.1|11|1),non_coding_exon_variant(MODIFIER|||n.1681G>T||PIGT||CODING|NR_047693.1|11|1),non_coding_exon_variant(MODIFIER|||n.1604G>T||PIGT||CODING|NR_047694.1|11|1),non_coding_exon_variant(MODIFIER|||n.1375G>T||PIGT||CODING|NR_047695.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SPINT3,MISSENSE,NM_006652.1:p.Leu77Ser/c.230T>C,tTg/tCg,MODERATE,COSM3841125(1),0.459864,0.3264,rs6032259,0.42(T),0.021(B),,-1.0018(T),,chr20,44141331,44141331,A,G,het,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu77Ser/c.230T>C|89|SPINT3|protein_coding|CODING|NM_006652.1|2|1),"NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4254,0.4481,0.5109,,,,,,1.000(P),0.46(T),0.0000(T),0.142,-1.474504,3.25,-6.5,-1.690000,-3.407000,-1.126000,0.052000,0.000000,0.000000,1.4375
missense_variant,WFDC8,MISSENSE,NM_130896.2:p.Asn137Ser/c.410A>G,aAt/aGt,MODERATE,,0.283347,0.0585,rs2250860,1(T),0.001(B),-1.565(N),-1.0238(T),,chr20,44184375,44184375,T,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn137Ser/c.410A>G|241|WFDC8|protein_coding|CODING|NM_130896.2|4|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn137Ser/c.410A>G|241|WFDC8|protein_coding|CODING|NM_181510.2|4|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3",,,,0.2321,0.3444,0.4016,0.40,0.37,0.41,,0.631962(N),1.000(P),"0.71,0.71(T,T)",0.0000(T),0.006,-1.215450,4.26,-4.39,-0.119000,-1.210000,-1.703000,0.000000,0.000000,0.000000,6.9775
missense_variant,WFDC9,MISSENSE,NM_147198.3:p.Asn27Thr/c.80A>C,aAc/aCc,MODERATE,COSM149186(1),0.393371,0.4276,rs2245898,0.65(T),0.0(B),,-0.9688(T),,chr20,44238741,44238741,T,G,het,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn27Thr/c.80A>C|89|WFDC9|protein_coding|CODING|NM_147198.3|3|1),,,,,0.4233,0.3545,0.325,0.35,0.39,0.33,,0.009333(N),1.000(P),1.52(T),0.0000(T),0.012,-0.453305,4.1,-6.08,-1.935000,-1.726000,-1.986000,0.000000,0.000000,0.000000,4.1965
missense_variant,WFDC10B,MISSENSE,NM_172006.2:p.Leu8Pro/c.23T>C,cTt/cCt,MODERATE,,0.849441,0.998,rs232729,1(T),0.0(B),,-0.9670(T),,chr20,44314609,44314609,A,G,het,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu8Pro/c.23T>C|73|WFDC10B|protein_coding|CODING|NM_172006.2|3|1),intron_variant(MODIFIER|||c.140-1010T>C|89|WFDC10B|protein_coding|CODING|NM_172131.2|2|1)","NHEK:CTCF,H1ESC:DNase1,HSMM:CTCF,HMEC:CTCF,NHEK:H3K27me3,H1ESC:CTCF",,,,0.818,0.7939,0.6113,0.70,0.90,0.60,,,1.000(P),1.23(T),0.0000(T),0.151,-1.757873,3.12,-0.113,-0.355000,-0.216000,-0.403000,0.011000,0.001000,0.000000,3.4716
missense_variant,SPINT4,MISSENSE,NM_178455.1:p.Gly73Ser/c.217G>A,Ggc/Agc,MODERATE,,0.519768,0.4742,rs6017667,0(D),1.0(D),,-0.8812(T),,chr20,44352620,44352620,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly73Ser/c.217G>A|99|SPINT4|protein_coding|CODING|NM_178455.1|2|1),"GM12878:H3K27me3,GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5716,0.3199,0.3857,0.47,0.64,0.37,,0.000066(D),0.296(P),-0.36(T),0.0000(T),0.296,2.926993,4.47,4.47,0.650000,2.486000,3.976000,0.055000,0.952000,0.997000,12.8514
synonymous_variant,WFDC3,SILENT,NM_080614.1:p.Gly46Gly/c.138T>C,ggT/ggC,LOW,COSM1178472(1),0.654553,0.6458,rs6032537,,,,-1.0006(T),,chr20,44417643,44417643,A,G,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly46Gly/c.138T>C|231|WFDC3|protein_coding|CODING|NM_080614.1|3|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.5368,0.7896,0.7058,0.70,0.66,0.71,,,1.000(P),,0.0000(T),.,-1.299880,4.27,-2.56,-2.106000,-0.831000,-1.249000,0.013000,0.000000,0.000000,8.0348
missense_variant,WFDC3,MISSENSE,NM_080614.1:p.His36Asp/c.106C>G,Cat/Gat,MODERATE,,0.654553,0.6458,rs6032538,0.75(T),0.0(B),-2.225(N),-0.9670(T),,chr20,44417675,44417675,G,C,het,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His36Asp/c.106C>G|231|WFDC3|protein_coding|CODING|NM_080614.1|3|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.5368,0.7896,0.7058,0.70,0.66,0.71,,0.084586(N),1.000(P),"-0.45,-0.45(T,T)",0.0000(T),0.236,-1.785426,4.18,1.13,-0.132000,0.141000,-0.141000,0.673000,0.034000,0.000000,3.5023
synonymous_variant,WFDC3,SILENT,NM_080614.1:p.Ser17Ser/c.51T>C,tcT/tcC,LOW,,0.626398,0.6458,rs3746493,,,,-0.9839(T),,chr20,44418564,44418564,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser17Ser/c.51T>C|231|WFDC3|protein_coding|CODING|NM_080614.1|2|1),"HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.5,0.7507,0.6561,0.65,0.64,0.65,,,0.995(P),,0.0000(T),.,0.994677,4.13,0.933,-0.119000,0.009000,-0.018000,0.956000,0.404000,0.001000,6.6241
synonymous_variant,DNTTIP1,SILENT,NM_052951.2:p.Pro13Pro/c.39T>C,ccT/ccC,LOW,COSM3749711(18),0.670527,0.6458,rs2664591,,,,,,chr20,44420682,44420682,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro13Pro/c.39T>C|329|DNTTIP1|protein_coding|CODING|NM_052951.2|1|1),upstream_gene_variant(MODIFIER||135||231|WFDC3|protein_coding|CODING|NM_080614.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,GM12878:H3K27ac,HeLa-S3:H3K9ac,K562:ATF3,HUVEC:PolII,CD4:H2BK20ac,H1ESC:ATF3,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ATF3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:Srf,H1ESC:H3K4me3,HepG2:HNF4G,GM12878:Srf,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,HSMM:H3K9ac,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HepG2:ATF3,HepG2:HNF4A,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,K562:Sin3Ak20,H1ESC:Sin3Ak20,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.5368,0.7968,0.7058,0.75,0.76,0.75,,,,,,,,,,,,,,,,
synonymous_variant,TNNC2,SILENT,NM_003279.2:p.Thr128Thr/c.384G>T,acG/acT,LOW,,0.404752,0.5308,rs4629,,,,,,chr20,44452697,44452697,C,A,het,synonymous_variant(LOW|SILENT|acG/acT|p.Thr128Thr/c.384G>T|160|TNNC2|protein_coding|CODING|NM_003279.2|5|1),"H1ESC:USF1,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,NH-A:H3K27me3,K562:USF1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.3384,0.5476,0.5378,0.44,0.26,0.53,,,,,,,,,,,,,,,,
missense_variant,SNX21,MISSENSE,NM_033421.3:p.Ala154Thr/c.460G>A,Gcc/Acc,MODERATE,COSM4001916(2),0.35024,0.4276,rs4638862,0.39(T),"0.005,0.005,0.013(B,B,B)",,-0.9247(T),,chr20,44469290,44469290,G,A,het,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala154Thr/c.460G>A|199|SNX21|protein_coding|CODING|NM_152897.2|4|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala154Thr/c.460G>A|373|SNX21|protein_coding|CODING|NM_033421.3|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser151Ser/c.453G>A|152|SNX21|protein_coding|CODING|NM_001042632.2|4|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser157Ser/c.471G>A|158|SNX21|protein_coding|CODING|NM_001042633.2|5|1),downstream_gene_variant(MODIFIER||1070||319|ACOT8|protein_coding|CODING|NM_005469.3||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3497,0.5202,0.5298,0.41,0.16,0.53,,0.027770(N),0.000(P),"1.65,1.65,1.65(T,T,T)",0.0000(T),0.082,0.947087,4.34,2.39,0.462000,0.473000,1.246000,0.906000,1.000000,1.000000,3.9307
synonymous_variant,SNX21,SILENT,NM_152897.2:p.Ser198Ser/c.594T>C,tcT/tcC,LOW,COSM4134594(1),0.516174,0.5188,rs3848713,,,,,,chr20,44470676,44470676,T,C,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser198Ser/c.594T>C|199|SNX21|protein_coding|CODING|NM_152897.2|5|1),3_prime_UTR_variant(MODIFIER||1380|c.*1380T>C|152|SNX21|protein_coding|CODING|NM_001042632.2|4|1),3_prime_UTR_variant(MODIFIER||1380|c.*1380T>C|158|SNX21|protein_coding|CODING|NM_001042633.2|5|1),3_prime_UTR_variant(MODIFIER||724|c.*724T>C|373|SNX21|protein_coding|CODING|NM_033421.3|4|1),intron_variant(MODIFIER|||c.842-81A>G|319|ACOT8|protein_coding|CODING|NM_005469.3|5|1)","H1ESC:H3K36me3,GM12878:H3K27ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.4785,0.6801,0.6004,0.54,0.43,0.60,,,,,,,,,,,,,,,,
missense_variant,ZSWIM3,MISSENSE,NM_080752.3:p.Val259Ala/c.776T>C,gTc/gCc,MODERATE,,0.564896,0.5615,rs2903808,1(T),"0.0,0.0(B,B)",-1.15(N),-0.9639(T),,chr20,44505973,44505973,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val259Ala/c.776T>C|696|ZSWIM3|protein_coding|CODING|NM_080752.3|2|1),non_coding_exon_variant(MODIFIER|||n.1176T>C||ZSWIM3||CODING|NR_037628.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6268,0.6859,0.6024,0.56,0.47,0.61,,0.003354(N),1.000(P),"1.68,1.68(T,T)",0.0000(T),0.037,-1.013146,5.49,5.49,-0.119000,1.579000,1.344000,0.833000,0.118000,0.003000,11.3232
synonymous_variant,ZSWIM3,SILENT,NM_080752.3:p.Arg407Arg/c.1221G>A,cgG/cgA,LOW,,0.477037,0.4573,rs1045493,,,,,,chr20,44506418,44506418,G,A,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg407Arg/c.1221G>A|696|ZSWIM3|protein_coding|CODING|NM_080752.3|2|1),non_coding_exon_variant(MODIFIER|||n.1621G>A||ZSWIM3||CODING|NR_037628.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5051,0.6441,0.5517,0.51,0.39,0.56,,,,,,,,,,,,,,,,
missense_variant,ZNF335,MISSENSE,NM_022095.3:p.Ser294Thr/c.881G>C,aGc/aCc,MODERATE,COSM4001921(1),0.777756,0.5486,rs6032606,1(T),"0.0,0.0(B,B)",0.205(N),-0.9431(T),,chr20,44596207,44596207,C,G,hom,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser294Thr/c.881G>C|1342|ZNF335|protein_coding|CODING|NM_022095.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118927.2,,0.7904,0.6758,0.9354,0.92,0.88,0.95,,0.841290(N),1.000(P),"3.26,3.14(T,T)",0.0000(T),0.021,-0.195879,4.87,4.87,-0.225000,1.286000,1.968000,0.895000,0.439000,0.216000,14.5624
synonymous_variant,ZNF335,SILENT,NM_022095.3:p.Ser214Ser/c.642C>T,agC/agT,LOW,COSM443920(3),0.185703,0,rs3848719,,,,,,chr20,44596545,44596545,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser214Ser/c.642C>T|1342|ZNF335|protein_coding|CODING|NM_022095.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000118924.2,,0.1933,0.3084,0.4254,0.33,0.15,0.43,,,,,,,,,,,,,,,,
missense_variant,MMP9,MISSENSE,NM_004994.2:p.Arg574Pro/c.1721G>C,cGg/cCg,MODERATE,,0.830272,0.7718,rs2250889,1(T),0.0(B),-2.325(N),-1.0313(T),,chr20,44642406,44642406,G,C,hom,missense_variant(MODERATE|MISSENSE|cGg/cCg|p.Arg574Pro/c.1721G>C|707|MMP9|protein_coding|CODING|NM_004994.2|10|1),"NHEK:CTCF,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,NH-A:H3K27me3,HeLa-S3:CTCF,GM12878:CTCF,K562:CTCFL,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,NH-A:CTCF,HepG2:CTCF,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.8579,0.7003,0.9543,0.92,0.85,0.95,,0.012547(N),1.000(P),4.3(T),0.0000(T),0.059,1.782955,4.85,3.9,-0.120000,0.634000,0.809000,0.664000,0.502000,0.000000,5.2922
synonymous_variant,MMP9,SILENT,NM_004994.2:p.Gly607Gly/c.1821A>C,ggA/ggC,LOW,COSM3749712(10),0.40595,0.2292,rs13969,,,,,,chr20,44642833,44642833,A,C,hom,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly607Gly/c.1821A>C|707|MMP9|protein_coding|CODING|NM_004994.2|11|1),"NHEK:CTCF,HepG2:H3K4me2,HeLa-S3:DNase1,HUVEC:H3K27me3,CD4:DNase1,K562:CTCF,HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,H1ESC:H3K4me3,NH-A:H3K27me3,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,GM12878:ZEB1,HMEC:CTCF,HMEC:H3K27me3,K562:E2F6,NHEK:H3K27me3,K562:Rad21,HepG2:H3K4me3,CD4:CTCF,H1ESC:Tcf12,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,HepG2:H3K27me3,HepG2:Rad21,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.3589,0.4669,0.5855,0.60,0.51,0.64,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A5,SILENT,NM_001134771.1:p.Ala723Ala/c.2169G>A,gcG/gcA,LOW,,0.986022,1,rs6032635,,,,,,chr20,44678348,44678348,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala723Ala/c.2169G>A|1139|SLC12A5|protein_coding|CODING|NM_001134771.1|17|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala700Ala/c.2100G>A|1116|SLC12A5|protein_coding|CODING|NM_020708.4|17|1)","GM06990:H3K27me3,HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,1,0.9957,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A5,SILENT,NM_001134771.1:p.Ser783Ser/c.2349C>T,tcC/tcT,LOW,COSM1412142(2),0.172923,0.3393,rs3746522,,,,,,chr20,44680412,44680412,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser783Ser/c.2349C>T|1139|SLC12A5|protein_coding|CODING|NM_001134771.1|18|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser760Ser/c.2280C>T|1116|SLC12A5|protein_coding|CODING|NM_020708.4|18|1)","H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1646,0.1816,0.2197,0.17,0.04,0.23,,,,,,,,,,,,,,,,
synonymous_variant,SLC12A5,SILENT,NM_001134771.1:p.Thr810Thr/c.2430G>A,acG/acA,LOW,COSM3758604(2),0.0920527,0.0149,rs17344810,,,,,,chr20,44680493,44680493,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr810Thr/c.2430G>A|1139|SLC12A5|protein_coding|CODING|NM_001134771.1|18|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr787Thr/c.2361G>A|1116|SLC12A5|protein_coding|CODING|NM_020708.4|18|1)","H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1963,0.0634,0.1183,0.10,0.09,0.11,,,,,,,,,,,,,,,,
synonymous_variant,ELMO2,SILENT,NM_133171.3:p.Asp660Asp/c.1980T>C,gaT/gaC,LOW,,0.985024,1,rs2257495,,,,,,chr20,44996182,44996182,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp660Asp/c.1980T>C|720|ELMO2|protein_coding|CODING|NM_133171.3|22|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp660Asp/c.1980T>C|720|ELMO2|protein_coding|CODING|NM_182764.1|21|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.999,0.98,0.95,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC13A3,SILENT,NM_022829.5:p.Ala486Ala/c.1458G>C,gcG/gcC,LOW,,0.197085,0.1885,rs202391,,,,,,chr20,45194904,45194904,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala439Ala/c.1317G>C|555|SLC13A3|protein_coding|CODING|NM_001011554.2|12|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala436Ala/c.1308G>C|552|SLC13A3|protein_coding|CODING|NM_001193339.1|10|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala404Ala/c.1212G>C|520|SLC13A3|protein_coding|CODING|NM_001193340.1|11|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala388Ala/c.1164G>C|504|SLC13A3|protein_coding|CODING|NM_001193342.1|11|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala486Ala/c.1458G>C|602|SLC13A3|protein_coding|CODING|NM_022829.5|11|1)","HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.1421,0.1153,0.1392,0.20,0.30,0.14,,,,,,,,,,,,,,,,
synonymous_variant,SLC13A3,SILENT,NM_022829.5:p.Val345Val/c.1035T>A,gtT/gtA,LOW,,0.00419329,0,rs35393013,,,,-0.7516(T),,chr20,45216784,45216784,A,T,het,"synonymous_variant(LOW|SILENT|gtT/gtA|p.Val298Val/c.894T>A|555|SLC13A3|protein_coding|CODING|NM_001011554.2|9|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val295Val/c.885T>A|552|SLC13A3|protein_coding|CODING|NM_001193339.1|7|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val247Val/c.741T>A|504|SLC13A3|protein_coding|CODING|NM_001193342.1|8|1),synonymous_variant(LOW|SILENT|gtT/gtA|p.Val345Val/c.1035T>A|602|SLC13A3|protein_coding|CODING|NM_022829.5|8|1),intron_variant(MODIFIER|||c.875+1015T>A|520|SLC13A3|protein_coding|CODING|NM_001193340.1|8|1)","K562:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.001,0.0072,0.0149,0.02,0.00,0.02,,,1.000(D),,0.0764(T),.,-0.243769,5.77,-11.5,0.444000,-2.297000,-0.512000,0.229000,0.011000,0.144000,10.0645
synonymous_variant,ZMYND8,SILENT,NM_001281775.2:p.Thr1063Thr/c.3189T>C,acT/acC,LOW,,0.896366,0.9435,rs2664544,,,,,,chr20,45853037,45853037,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr911Thr/c.2733T>C|1054|ZMYND8|protein_coding|CODING|NM_001281771.2|18|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1043Thr/c.3129T>C|1186|ZMYND8|protein_coding|CODING|NM_001281772.2|21|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1043Thr/c.3129T>C|1214|ZMYND8|protein_coding|CODING|NM_001281773.2|20|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr997Thr/c.2991T>C|1168|ZMYND8|protein_coding|CODING|NM_001281774.2|20|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1063Thr/c.3189T>C|1234|ZMYND8|protein_coding|CODING|NM_001281775.2|19|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr936Thr/c.2808T>C|1107|ZMYND8|protein_coding|CODING|NM_001281776.2|18|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr992Thr/c.2976T>C|1163|ZMYND8|protein_coding|CODING|NM_001281777.2|19|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1038Thr/c.3114T>C|1181|ZMYND8|protein_coding|CODING|NM_001281778.2|19|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr749Thr/c.2247T>C|920|ZMYND8|protein_coding|CODING|NM_001281779.2|20|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr749Thr/c.2247T>C|892|ZMYND8|protein_coding|CODING|NM_001281780.2|20|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr945Thr/c.2835T>C|1088|ZMYND8|protein_coding|CODING|NM_001281781.2|18|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr965Thr/c.2895T>C|1136|ZMYND8|protein_coding|CODING|NM_001281782.2|18|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1063Thr/c.3189T>C|1206|ZMYND8|protein_coding|CODING|NM_001281783.2|19|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr991Thr/c.2973T>C|1134|ZMYND8|protein_coding|CODING|NM_001281784.2|18|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1017Thr/c.3051T>C|1160|ZMYND8|protein_coding|CODING|NM_012408.5|19|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1017Thr/c.3051T>C|1188|ZMYND8|protein_coding|CODING|NM_183047.3|19|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr992Thr/c.2976T>C|1135|ZMYND8|protein_coding|CODING|NM_183048.3|19|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8292,0.8818,0.8469,0.88,0.93,0.86,,,0.000(P),,,.,0.932253,5.45,3.44,-0.119000,0.650000,0.687000,0.913000,1.000000,1.000000,3.407
synonymous_variant,SULF2,SILENT,NM_001161841.1:p.Thr97Thr/c.291T>C,acT/acC,LOW,COSM3758610(1),0.655751,0.625,rs3810526,,,,,,chr20,46365571,46365571,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr97Thr/c.291T>C|870|SULF2|protein_coding|CODING|NM_001161841.1|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr97Thr/c.291T>C|870|SULF2|protein_coding|CODING|NM_018837.3|3|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr97Thr/c.291T>C|867|SULF2|protein_coding|CODING|NM_198596.2|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5982,0.5764,0.5636,0.67,0.78,0.61,,,,,,,,,,,,,,,,
missense_variant,SULF2,MISSENSE,NM_001161841.1:p.Ala76Thr/c.226G>A,Gcg/Acg,MODERATE,COSM1412272(1),0.0776757,0.001,rs56218501,0.31(T),"0.002,0.002,0.004(B,B,B)",-0.03(N),-0.8146(T),,chr20,46365636,46365636,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala76Thr/c.226G>A|870|SULF2|protein_coding|CODING|NM_001161841.1|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala76Thr/c.226G>A|870|SULF2|protein_coding|CODING|NM_018837.3|3|1),missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala76Thr/c.226G>A|867|SULF2|protein_coding|CODING|NM_198596.2|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0695,0.1354,0.2167,0.16,0.04,0.21,,0.000002(D),0.003(P),"-4.94,-4.94,-4.94,-4.94,-4.94(D,D,D,D,D)",0.0025(T),0.172,2.362478,5.44,5.44,0.561000,2.559000,2.973000,0.914000,1.000000,1.000000,8.5077
missense_variant,PREX1,MISSENSE,NM_020820.3:p.Lys1340Glu/c.4018A>G,Aag/Gag,MODERATE,,0.991613,1,rs2664521,1(T),"0.0,0.0(B,B)",-2.045(N),-0.9529(T),,chr20,47253150,47253150,T,C,hom,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1340Glu/c.4018A>G|1659|PREX1|protein_coding|CODING|NM_020820.3|32|1),"HUVEC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9914,0.9642,0.98,0.99,0.98,,0.001271(N),0.983(P),"1.81,1.81(T,T)",0.0000(T),0.387,1.403264,4.57,4.57,-0.215000,1.070000,5.697000,0.919000,0.991000,1.000000,13.1217
missense_variant,PREX1,MISSENSE,NM_020820.3:p.Val1240Ile/c.3718G>A,Gtc/Atc,MODERATE,,0.150759,0.1528,rs16993997,0.17(T),"0.003,0.008(B,B)",0.49(N),-1.0435(T),,chr20,47258763,47258763,C,T,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val1240Ile/c.3718G>A|1659|PREX1|protein_coding|CODING|NM_020820.3|29|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2485,0.2133,0.1849,0.14,0.06,0.19,,0.307705(U),0.995(P),"1.21,1.21(T,T)",0.0000(T),0.173,1.512329,5.4,3.47,0.639000,1.292000,2.936000,0.411000,0.829000,0.920000,10.6574
synonymous_variant,PREX1,SILENT,NM_020820.3:p.Arg1177Arg/c.3531A>G,cgA/cgG,LOW,COSM149191(1),0.320487,0.369,rs6066802,,,,,,chr20,47261017,47261017,T,C,het,synonymous_variant(LOW|SILENT|cgA/cgG|p.Arg1177Arg/c.3531A>G|1659|PREX1|protein_coding|CODING|NM_020820.3|27|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4519,0.3559,0.2624,0.25,0.22,0.26,,,,,,,,,,,,,,,,
missense_variant,PREX1,MISSENSE,NM_020820.3:p.Ala1118Thr/c.3352G>A,Gca/Aca,MODERATE,,0.170527,0.0873,rs6012504,0.25(T),"0.001,0.004(B,B)",0(N),-0.9315(T),,chr20,47262549,47262549,C,T,het,missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1118Thr/c.3352G>A|1659|PREX1|protein_coding|CODING|NM_020820.3|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1411,0.0893,0.0805,0.15,0.33,0.06,,0.056948(U),1.000(P),"1.27,1.27(T,T)",0.0000(T),0.193,0.767934,4.86,2.84,-0.147000,0.543000,1.799000,0.000000,0.001000,0.967000,10.2951
synonymous_variant,PREX1,SILENT,NM_020820.3:p.Cys923Cys/c.2769T>C,tgT/tgC,LOW,,0.150759,0.1528,rs41283556,,,,,,chr20,47267480,47267480,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys923Cys/c.2769T>C|1659|PREX1|protein_coding|CODING|NM_020820.3|23|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2474,0.2118,0.1849,0.14,0.06,0.19,,,,,,,,,,,,,,,,
synonymous_variant,PREX1,SILENT,NM_020820.3:p.Thr883Thr/c.2649C>T,acC/acT,LOW,,0.150759,0.1528,rs61748372,,,,,,chr20,47267940,47267940,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr883Thr/c.2649C>T|1659|PREX1|protein_coding|CODING|NM_020820.3|22|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2474,0.2118,0.1849,0.14,0.06,0.19,,,,,,,,,,,,,,,,
missense_variant,PREX1,MISSENSE,NM_020820.3:p.Gln786His/c.2358G>C,caG/caC,MODERATE,COSM1412287(1),0.149561,0.1468,rs41283558,0.2(T),"0.019,0.035(B,B)",1.59(L),-1.0689(T),,chr20,47269233,47269233,C,G,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln786His/c.2358G>C|1659|PREX1|protein_coding|CODING|NM_020820.3|21|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2474,0.2118,0.1849,0.14,0.06,0.19,,0.002182(N),0.000(P),"0.99,0.99(T,T)",0.0001(T),0.225,2.228164,4.5,3.56,-0.224000,0.893000,3.347000,0.793000,1.000000,1.000000,13.9532
missense_variant,PREX1,MISSENSE,NM_020820.3:p.Val659Met/c.1975G>A,Gtg/Atg,MODERATE,COSM1178473(2),0.160343,0.1587,rs55904123,1(T),0.001(B),-0.895(N),-0.9194(T),,chr20,47273726,47273726,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val659Met/c.1975G>A|1659|PREX1|protein_coding|CODING|NM_020820.3|18|1),splice_region_variant(LOW|||c.1975G>A|1659|PREX1|protein_coding|CODING|NM_020820.3|18|1)","NHEK:CTCF,K562:CTCF,HUVEC:H3K36me3,GM12878:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,CD4:H4K20me1,HeLa-S3:CTCF,NHEK:H3K27me3,K562:Rad21,HepG2:CTCF,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Rad21,H1ESC:Rad21,H1ESC:CTCF",,,,0.2679,0.2133,0.1839,0.15,0.08,0.19,,0.000100(N),0.575(P),"2.29,2.29(T,T)",0.0000(T),0.065,-1.987474,5.12,2.8,-2.680000,-0.281000,3.541000,0.047000,0.981000,1.000000,8.5258
synonymous_variant,PREX1,SILENT,NM_020820.3:p.Asn351Asn/c.1053C>T,aaC/aaT,LOW,COSM149193(2),0.285144,0.0962,rs3746820,,,,,,chr20,47307618,47307618,G,A,het,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn351Asn/c.1053C>T|1659|PREX1|protein_coding|CODING|NM_020820.3|9|1),"HUVEC:H3K36me3,GM12878:H3K36me3,K562:USF1,NH-A:DNase1,NHEK:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2444,0.1816,0.2028,0.29,0.50,0.18,,,,,,,,,,,,,,,,
synonymous_variant,ARFGEF2,SILENT,NM_006420.2:p.Gly1221Gly/c.3663T>C,ggT/ggC,LOW,COSM1412311(2),0.354233,0.1905,rs2295580,,,,,,chr20,47626847,47626847,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1221Gly/c.3663T>C|1785|ARFGEF2|protein_coding|CODING|NM_006420.2|27|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116402.2|RCV000123687.1,,0.2883,0.2752,0.3171,0.40,0.52,0.35,,,,,,,,,,,,,,,,
synonymous_variant,DDX27,SILENT,NM_017895.7:p.Phe434Phe/c.1302C>T,ttC/ttT,LOW,COSM4134622(1),0.605831,0.5258,rs238148,,,,,,chr20,47850182,47850182,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe434Phe/c.1302C>T|796|DDX27|protein_coding|CODING|NM_017895.7|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.647,0.7644,0.70,0.55,0.77,,,,,,,,,,,,,,,,
missense_variant,DDX27,MISSENSE,NM_017895.7:p.Gly766Ser/c.2296G>A,Ggc/Agc,MODERATE,COSM3736277(3),0.272564,0.3234,rs1130146,0.37(T),0.748(P),1.04(L),-0.6520(T),,chr20,47859217,47859217,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly766Ser/c.2296G>A|796|DDX27|protein_coding|CODING|NM_017895.7|19|1),splice_region_variant(LOW|||c.2296G>A|796|DDX27|protein_coding|CODING|NM_017895.7|19|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3333,0.3271,0.4085,0.29,0.11,0.38,,0.000000(D),0.000(P),4.89(T),0.0000(T),0.193,4.860053,5.91,4.95,0.655000,1.487000,7.104000,0.957000,1.000000,1.000000,14.2585
synonymous_variant,ZNFX1,SILENT,NM_021035.2:p.Leu1397Leu/c.4189C>T,Ctg/Ttg,LOW,,0.778355,0.621,rs238208,,,,,,chr20,47865372,47865372,G,A,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu1397Leu/c.4189C>T|1918|ZNFX1|protein_coding|CODING|NM_021035.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.7017,0.84,0.86,0.92,0.84,,,,,,,,,,,,,,,,
missense_variant,ZNFX1,MISSENSE,NM_021035.2:p.Thr1351Ile/c.4052C>T,aCc/aTc,MODERATE,COSM4134624(2),0.59984,0.5278,rs238209,0.73(T),0.0(B),-0.155(N),-0.9544(T),,chr20,47865509,47865509,G,A,het,missense_variant(MODERATE|MISSENSE|aCc/aTc|p.Thr1351Ile/c.4052C>T|1918|ZNFX1|protein_coding|CODING|NM_021035.2|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6043,0.6412,0.7634,0.69,0.53,0.77,,0.062245(N),0.374(P),"-2.16,-2.16(D,D)",0.0000(T),0.018,-1.472392,6.17,0.723,-0.122000,-0.099000,1.379000,0.989000,0.659000,0.976000,5.6088
missense_variant,ZNFX1,MISSENSE,NM_021035.2:p.Gln924His/c.2772G>C,caG/caC,MODERATE,,0.566893,0.4563,rs238221,0.18(T),0.004(B),0.835(L),-0.9416(T),,chr20,47872377,47872377,C,G,het,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln924His/c.2772G>C|1918|ZNFX1|protein_coding|CODING|NM_021035.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5082,0.6081,0.7505,0.69,0.56,0.75,,0.003453(N),0.717(P),"1.96,-2.16,-2.16,-0.8(T,D,D,T)",0.0000(T),0.507,2.268106,5.74,2.34,0.655000,0.791000,-0.033000,0.986000,1.000000,0.959000,4.9857
synonymous_variant,ZNFX1,SILENT,NM_021035.2:p.Tyr555Tyr/c.1665C>T,taC/taT,LOW,,0.779353,0.621,rs57950,,,,,,chr20,47886684,47886684,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr555Tyr/c.1665C>T|1918|ZNFX1|protein_coding|CODING|NM_021035.2|3|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.7075,0.841,0.86,0.92,0.84,,,,,,,,,,,,,,,,
synonymous_variant,B4GALT5,SILENT,NM_004776.3:p.Glu220Glu/c.660G>A,gaG/gaA,LOW,,0.810104,0.8284,rs421801,,,,,,chr20,48257149,48257149,C,T,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu220Glu/c.660G>A|388|B4GALT5|protein_coding|CODING|NM_004776.3|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8589,0.7594,0.8022,0.81,0.82,0.81,,,,,,,,,,,,,,,,
synonymous_variant,SLC9A8,SILENT,NM_001260491.1:p.Gly161Gly/c.483G>A,ggG/ggA,LOW,,0.142971,0,rs6012755,,,,,,chr20,48466166,48466166,G,A,het,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly161Gly/c.483G>A|597|SLC9A8|protein_coding|CODING|NM_001260491.1|6|1),synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly161Gly/c.483G>A|581|SLC9A8|protein_coding|CODING|NM_015266.2|6|1),intron_variant(MODIFIER|||n.642+4510G>A||SLC9A8||CODING|NR_048540.1|5|1),non_coding_exon_variant(MODIFIER|||n.693G>A||SLC9A8||CODING|NR_048537.1|6|1),non_coding_exon_variant(MODIFIER|||n.609G>A||SLC9A8||CODING|NR_048538.1|5|1),non_coding_exon_variant(MODIFIER|||n.693G>A||SLC9A8||CODING|NR_048539.1|6|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0389,0.0778,0.0616,0.16,0.34,0.07,,,,,,,,,,,,,,,,
synonymous_variant,SLC9A8,SILENT,NM_001260491.1:p.Leu341Leu/c.1023T>G,ctT/ctG,LOW,COSM4001934(1),0.822883,0.8373,rs542234,,,,,,chr20,48491258,48491258,T,G,hom,"synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu341Leu/c.1023T>G|597|SLC9A8|protein_coding|CODING|NM_001260491.1|11|1),synonymous_variant(LOW|SILENT|ctT/ctG|p.Leu325Leu/c.975T>G|581|SLC9A8|protein_coding|CODING|NM_015266.2|11|1),intron_variant(MODIFIER|||n.1032-6203T>G||SLC9A8||CODING|NR_048540.1|8|1),non_coding_exon_variant(MODIFIER|||n.1150T>G||SLC9A8||CODING|NR_048537.1|10|1),non_coding_exon_variant(MODIFIER|||n.1066T>G||SLC9A8||CODING|NR_048538.1|9|1),non_coding_exon_variant(MODIFIER|||n.1022T>G||SLC9A8||CODING|NR_048539.1|9|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8609,0.8256,0.7952,0.79,0.79,0.79,,,,,,,,,,,,,,,,
synonymous_variant,SPATA2,SILENT,NM_001135773.1:p.Cys463Cys/c.1389C>T,tgC/tgT,LOW,COSM3758623(2),0.358027,0.3403,rs386596699,,,,,,chr20,48522330,48522330,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys463Cys/c.1389C>T|520|SPATA2|protein_coding|CODING|NM_001135773.1|3|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys463Cys/c.1389C>T|520|SPATA2|protein_coding|CODING|NM_006038.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3","Psoriasis,Psoriasis",,,0.6104,0.464,0.3976,0.32,0.14,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SPATA2,SILENT,NM_001135773.1:p.Ser378Ser/c.1134C>T,tcC/tcT,LOW,COSM3758624(5),0.488618,0.7728,rs492702,,,,,,chr20,48522585,48522585,G,A,hom,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser378Ser/c.1134C>T|520|SPATA2|protein_coding|CODING|NM_001135773.1|3|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser378Ser/c.1134C>T|520|SPATA2|protein_coding|CODING|NM_006038.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6616,0.585,0.4503,0.37,0.18,0.46,,,,,,,,,,,,,,,,
synonymous_variant,SPATA2,SILENT,NM_001135773.1:p.Tyr67Tyr/c.201T>C,taT/taC,LOW,COSM3758625(1),0.490815,0.7738,rs2769982,,,,,,chr20,48524827,48524827,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr67Tyr/c.201T>C|520|SPATA2|protein_coding|CODING|NM_001135773.1|2|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr67Tyr/c.201T>C|520|SPATA2|protein_coding|CODING|NM_006038.3|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6595,0.585,0.4503,0.37,0.19,0.46,,,,,,,,,,,,,,,,
synonymous_variant,TMEM189-UBE2V1,SILENT,NM_199203.2:p.Pro124Pro/c.372G>A,ccG/ccA,LOW,COSM3758630(1),0.287141,0.25,rs6122878,,,,,,chr20,48746189,48746189,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro121Pro/c.363G>A|267|TMEM189|protein_coding|CODING|NM_001162505.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro124Pro/c.372G>A|270|TMEM189|protein_coding|CODING|NM_199129.2|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro124Pro/c.372G>A|370|TMEM189-UBE2V1|protein_coding|CODING|NM_199203.2|4|1),non_coding_exon_variant(MODIFIER|||n.637G>A||TMEM189||CODING|NR_027889.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2996,0.255,0.2863,0.28,0.30,0.27,,,,,,,,,,,,,,,,
missense_variant,TMEM189-UBE2V1,MISSENSE,NM_199203.2:p.Asn6Asp/c.16A>G,Aac/Gac,MODERATE,COSM4134648(2),1,1,rs232733,1(T),"0.0,0.0,0.0(B,B,B)",0(N),-0.9546(T),,chr20,48770159,48770159,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn6Asp/c.16A>G|267|TMEM189|protein_coding|CODING|NM_001162505.1|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn6Asp/c.16A>G|270|TMEM189|protein_coding|CODING|NM_199129.2|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn6Asp/c.16A>G|370|TMEM189-UBE2V1|protein_coding|CODING|NM_199203.2|1|1),non_coding_exon_variant(MODIFIER|||n.177A>G||TMEM189||CODING|NR_027889.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HepG2:Nrsf,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,1,1,1,,,,,,0.000(P),"0.86,0.86,1.11,1.11(T,T,T,T)",0.0000(T),0.025,-1.242740,3.81,0.707,-2.268000,-0.274000,0.497000,0.073000,0.503000,1.000000,3.4688
synonymous_variant,CEBPB,SILENT,NM_005194.3:p.Ala147Ala/c.441C>T,gcC/gcT,LOW,COSM3749717(15),0.369808,0.4752,rs4253439,,,,,,chr20,48808011,48808011,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala124Ala/c.372C>T|322|CEBPB|protein_coding|CODING|NM_001285878.1|1|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala147Ala/c.441C>T|345|CEBPB|protein_coding|CODING|NM_005194.3|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||147|CEBPB|protein_coding|CODING|NM_001285879.1|1|1),5_prime_UTR_variant(MODIFIER||154|c.-154C>T|147|CEBPB|protein_coding|CODING|NM_001285879.1|1|1),intron_variant(MODIFIER|||n.407-52G>A||LOC101927559||NON_CODING|NR_125739.1|1|1)","K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HUVEC:PolII,IMR90:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HepG2:Yy1,K562:SP1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.4121,0.3977,0.4344,0.34,0.22,0.40,,,,,,,,,,,,,,,,
missense_variant,FAM65C,MISSENSE,NM_001290268.1:p.Leu584Pro/c.1751T>C,cTg/cCg,MODERATE,,0.698283,0.7034,rs6020624,0.17(T),"0.0,0.0(B,B)",-1.79(N),-1.0560(T),,chr20,49214156,49214156,A,G,het,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu584Pro/c.1751T>C|950|FAM65C|protein_coding|CODING|NM_001290268.1|14|1),missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu580Pro/c.1739T>C|946|FAM65C|protein_coding|CODING|NM_080829.3|14|1),non_coding_exon_variant(MODIFIER|||n.2338T>C||FAM65C||CODING|NR_110890.1|14|1)","K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.6534,0.6758,0.7058,0.72,0.73,0.71,,0.485006(N),1.000(P),"2.58,2.58,2.57(T,T,T)",0.0000(T),0.077,-0.813151,4.6,1.11,-0.215000,0.101000,1.921000,0.013000,0.000000,0.035000,4.9545
synonymous_variant,KCNG1,SILENT,NM_002237.3:p.Ile445Ile/c.1335C>A,atC/atA,LOW,COSM1412447(2),0.642372,0.6558,rs1054268,,,,,,chr20,49620783,49620783,G,T,het,synonymous_variant(LOW|SILENT|atC/atA|p.Ile445Ile/c.1335C>A|513|KCNG1|protein_coding|CODING|NM_002237.3|3|1),"H1ESC:H3K36me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.7301,0.8372,0.8529,0.69,0.41,0.84,,,,,,,,,,,,,,,,
synonymous_variant,KCNG1,SILENT,NM_002237.3:p.Ala323Ala/c.969A>G,gcA/gcG,LOW,COSM3758631(6),0.650759,0.6587,rs6122993,,,,,,chr20,49621149,49621149,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala323Ala/c.969A>G|513|KCNG1|protein_coding|CODING|NM_002237.3|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.7301,0.8386,0.8529,0.71,0.45,0.84,,,,,,,,,,,,,,,,
synonymous_variant,NFATC2,SILENT,NM_173091.3:p.Ile501Ile/c.1503A>C,atA/atC,LOW,COSM4001940(1),0.51877,0.3472,rs6013193,,,,,,chr20,50092027,50092027,T,G,het,"synonymous_variant(LOW|SILENT|atA/atC|p.Ile481Ile/c.1443A>C|901|NFATC2|protein_coding|CODING|NM_001136021.2|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile481Ile/c.1443A>C|905|NFATC2|protein_coding|CODING|NM_001258292.1|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile282Ile/c.846A>C|702|NFATC2|protein_coding|CODING|NM_001258294.1|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile282Ile/c.846A>C|706|NFATC2|protein_coding|CODING|NM_001258295.1|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile282Ile/c.846A>C|702|NFATC2|protein_coding|CODING|NM_001258296.1|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile282Ile/c.846A>C|706|NFATC2|protein_coding|CODING|NM_001258297.1|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile501Ile/c.1503A>C|921|NFATC2|protein_coding|CODING|NM_012340.4|4|1),synonymous_variant(LOW|SILENT|atA/atC|p.Ile501Ile/c.1503A>C|925|NFATC2|protein_coding|CODING|NM_173091.3|4|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4458,0.4885,0.4394,0.56,0.73,0.47,,,,,,,,,,,,,,,,
synonymous_variant,ATP9A,SILENT,NM_006045.1:p.Ser366Ser/c.1098G>A,tcG/tcA,LOW,COSM3758634(1),0.532947,0.7937,rs2255341,,,,,,chr20,50287736,50287736,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser366Ser/c.1098G>A|1047|ATP9A|protein_coding|CODING|NM_006045.1|12|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6022,0.5173,0.5318,0.47,0.35,0.52,,,,,,,,,,,,,,,,
synonymous_variant,ATP9A,SILENT,NM_006045.1:p.Arg348Arg/c.1044T>C,cgT/cgC,LOW,,0.704073,0.7976,rs2255342,,,,,,chr20,50287790,50287790,A,G,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg348Arg/c.1044T>C|1047|ATP9A|protein_coding|CODING|NM_006045.1|12|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7781,0.7046,0.7942,0.73,0.59,0.80,,,,,,,,,,,,,,,,
synonymous_variant,SALL4,SILENT,NM_020436.3:p.Thr620Thr/c.1860A>G,acA/acG,LOW,,0.381989,0.6071,rs6021437,,,,,,chr20,50407162,50407162,T,C,hom,synonymous_variant(LOW|SILENT|acA/acG|p.Thr620Thr/c.1860A>G|1053|SALL4|protein_coding|CODING|NM_020436.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.4744,0.3415,0.336,0.30,0.22,0.34,,,,,,,,,,,,,,,,
missense_variant,SALL4,MISSENSE,NM_020436.3:p.Leu507Arg/c.1520T>G,cTg/cGg,MODERATE,COSM3758635(1),0.358826,0.5962,rs6126344,0.68(T),0.005(B),1.905(M),-0.9655(T),,chr20,50407502,50407502,A,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu507Arg/c.1520T>G|1053|SALL4|protein_coding|CODING|NM_020436.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.4734,0.3386,0.335,0.28,0.15,0.34,,0.055811(N),0.000(P),2.88(T),0.0000(T),0.084,-0.033053,5.34,1.9,-0.322000,0.343000,2.155000,0.486000,0.979000,0.998000,8.6398
synonymous_variant,SALL4,SILENT,NM_020436.3:p.Asn180Asn/c.540T>C,aaT/aaC,LOW,,0.997404,1,rs6013281,,,,,,chr20,50408482,50408482,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn180Asn/c.540T>C|1053|SALL4|protein_coding|CODING|NM_020436.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.9928,1,0.996,1.00,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,ZFP64,SILENT,NM_018197.2:p.Ala516Ala/c.1548C>T,gcC/gcT,LOW,,0.155751,0.0843,rs3746415,,,,,,chr20,50769183,50769183,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala516Ala/c.1548C>T|681|ZFP64|protein_coding|CODING|NM_018197.2|6|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala462Ala/c.1386C>T|627|ZFP64|protein_coding|CODING|NM_022088.4|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala514Ala/c.1542C>T|679|ZFP64|protein_coding|CODING|NM_199426.1|6|1),intron_variant(MODIFIER|||c.763+7479C>T|645|ZFP64|protein_coding|CODING|NM_199427.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1605,0.2695,0.2137,0.18,0.10,0.22,,,,,,,,,,,,,,,,
missense_variant,ZFP64,MISSENSE,NM_018197.2:p.Ser451Asn/c.1352G>A,aGt/aAt,MODERATE,,0.169329,0.0843,rs3746414,0.22(T),"0.003,0.0,0.0(B,B,B)",0.205(N),-0.9582(T),,chr20,50769379,50769379,C,T,het,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser451Asn/c.1352G>A|681|ZFP64|protein_coding|CODING|NM_018197.2|6|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser397Asn/c.1190G>A|627|ZFP64|protein_coding|CODING|NM_022088.4|5|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser449Asn/c.1346G>A|679|ZFP64|protein_coding|CODING|NM_199426.1|6|1),intron_variant(MODIFIER|||c.763+7283G>A|645|ZFP64|protein_coding|CODING|NM_199427.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1605,0.2781,0.2137,0.20,0.15,0.22,,0.889223(N),1.000(P),"3.21,3.25,3.2(T,T,T)",0.0000(T),0.0,-0.566451,5.49,-10.5,-1.178000,-2.527000,-2.377000,0.149000,0.000000,0.000000,17.7348
synonymous_variant,ZFP64,SILENT,NM_018197.2:p.His394His/c.1182T>C,caT/caC,LOW,,0.167732,0.0843,rs3746413,,,,,,chr20,50769549,50769549,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His394His/c.1182T>C|681|ZFP64|protein_coding|CODING|NM_018197.2|6|1),synonymous_variant(LOW|SILENT|caT/caC|p.His340His/c.1020T>C|627|ZFP64|protein_coding|CODING|NM_022088.4|5|1),synonymous_variant(LOW|SILENT|caT/caC|p.His392His/c.1176T>C|679|ZFP64|protein_coding|CODING|NM_199426.1|6|1),intron_variant(MODIFIER|||c.763+7113T>C|645|ZFP64|protein_coding|CODING|NM_199427.2|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1605,0.2767,0.2137,0.19,0.15,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TSHZ2,SILENT,NM_173485.5:p.Phe284Phe/c.852T>C,ttT/ttC,LOW,,0.834465,0.7837,rs739870,,,,,,chr20,51870849,51870849,T,C,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe281Phe/c.843T>C|1031|TSHZ2|protein_coding|CODING|NM_001193421.1|2|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe284Phe/c.852T>C|1034|TSHZ2|protein_coding|CODING|NM_173485.5|2|1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.817,0.8256,0.7237,0.79,0.94,0.72,,,,,,,,,,,,,,,,
synonymous_variant,CYP24A1,SILENT,NM_000782.4:p.Ala184Ala/c.552C>T,gcC/gcT,LOW,COSM4001955(1),0.458067,0.4058,rs2296241,,,,,,chr20,52786219,52786219,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala184Ala/c.552C>T|514|CYP24A1|protein_coding|CODING|NM_000782.4|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala184Ala/c.552C>T|448|CYP24A1|protein_coding|CODING|NM_001128915.1|4|1)","GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.4151,0.4222,0.5328,0.52,0.50,0.54,,,,,,,,,,,,,,,,
missense_variant,AURKA,MISSENSE,NM_003600.2:p.Ile57Val/c.169A>G,Att/Gtt,MODERATE,,0.84984,0.877,rs1047972,1(T),"0.0,0.001,0.0,0.001,0.0(B,B,B,B,B)",,-0.9368(T),,chr20,54961463,54961463,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile57Val/c.169A>G|403|AURKA|protein_coding|CODING|NM_003600.2|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile57Val/c.169A>G|403|AURKA|protein_coding|CODING|NM_198433.1|5|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile57Val/c.169A>G|403|AURKA|protein_coding|CODING|NM_198434.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile57Val/c.169A>G|403|AURKA|protein_coding|CODING|NM_198435.1|3|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile57Val/c.169A>G|403|AURKA|protein_coding|CODING|NM_198436.1|4|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile57Val/c.169A>G|403|AURKA|protein_coding|CODING|NM_198437.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8497,0.8948,0.8181,0.84,0.84,0.84,,0.022873(N),1.000(P),"-0.1,-0.1,-0.1,-0.1,-0.1,-0.1,-0.1,-0.1,-0.37,0.11,2.95,2.75,2.9,2.72(T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.172,-2.049068,5.01,1.97,-1.117000,-0.000000,-0.463000,0.073000,0.010000,0.000000,6.6292
synonymous_variant,CASS4,SILENT,NM_001164116.1:p.Val45Val/c.135G>A,gtG/gtA,LOW,COSM4134672(1),0.135383,0.1508,rs911159,,,,,,chr20,55012318,55012318,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val45Val/c.135G>A|732|CASS4|protein_coding|CODING|NM_001164114.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val45Val/c.135G>A|349|CASS4|protein_coding|CODING|NM_001164115.1|2|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val45Val/c.135G>A|786|CASS4|protein_coding|CODING|NM_001164116.1|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val45Val/c.135G>A|786|CASS4|protein_coding|CODING|NM_020356.3|2|1)","IMR90:H2BK120ac,HUVEC:H3K27me3,CD4:H4K91ac,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac",,,,0.1575,0.1628,0.1501,0.13,0.10,0.14,,,,,,,,,,,,,,,,
missense_variant,GCNT7,MISSENSE,NM_080615.1:p.Asp352Glu/c.1056T>A,gaT/gaA,MODERATE,,0.209265,0.0694,rs34552628,0.28(T),0.025(B),0.63(N),-0.9717(T),,chr20,55070268,55070268,A,T,het,"missense_variant(MODERATE|MISSENSE|gaT/gaA|p.Asp352Glu/c.1056T>A|430|GCNT7|protein_coding|CODING|NM_080615.1|6|1),intron_variant(MODIFIER|||c.567+11023A>T|336|RTFDC1|protein_coding|CODING|NM_001283035.1|6|1),intron_variant(MODIFIER|||c.477+11023A>T|305|RTFDC1|protein_coding|CODING|NM_001283036.1|5|1),intron_variant(MODIFIER|||c.477+11023A>T|230|RTFDC1|protein_coding|CODING|NM_001283037.1|5|1),intron_variant(MODIFIER|||c.477+11023A>T|306|RTFDC1|protein_coding|CODING|NM_016407.4|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3006,0.2925,0.4324,,,,,0.000000(N),0.000(P),2.88(T),0.0000(T),0.044,-0.523465,5.82,-11.6,-0.256000,-3.091000,-1.086000,0.370000,0.000000,0.000000,4.6123
stop_lost,GCNT7,MISSENSE,NM_080615.1:p.Ter65Glnext*?/c.193T>C,Taa/Caa,HIGH,,0.840056,0.9921,rs6024911,,,,,,chr20,55072472,55072472,A,G,het,"stop_lost(HIGH|MISSENSE|Taa/Caa|p.Ter65Glnext*?/c.193T>C|430|GCNT7|protein_coding|CODING|NM_080615.1|5|1),intron_variant(MODIFIER|||c.567+13227A>G|336|RTFDC1|protein_coding|CODING|NM_001283035.1|6|1),intron_variant(MODIFIER|||c.477+13227A>G|305|RTFDC1|protein_coding|CODING|NM_001283036.1|5|1),intron_variant(MODIFIER|||c.477+13227A>G|230|RTFDC1|protein_coding|CODING|NM_001283037.1|5|1),intron_variant(MODIFIER|||c.477+13227A>G|306|RTFDC1|protein_coding|CODING|NM_016407.4|5|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8027,0.8602,0.8002,0.78,0.76,0.78,,,,,,,,,,,,,,,,
missense_variant,RTFDC1,MISSENSE,NM_001283035.1:p.Met201Val/c.601A>G,Atg/Gtg,MODERATE,COSM4134678(1),0.865216,0.9911,rs1059768,0.87(T),"0.0,0.0,0.0(B,B,B)",-1.935(N),-0.9784(T),,chr20,55088404,55088404,A,G,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met201Val/c.601A>G|336|RTFDC1|protein_coding|CODING|NM_001283035.1|7|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met171Val/c.511A>G|305|RTFDC1|protein_coding|CODING|NM_001283036.1|6|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met171Val/c.511A>G|230|RTFDC1|protein_coding|CODING|NM_001283037.1|6|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met171Val/c.511A>G|306|RTFDC1|protein_coding|CODING|NM_016407.4|6|1),intron_variant(MODIFIER|||c.-301+448T>C|430|GCNT7|protein_coding|CODING|NM_080615.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7975,0.8631,0.8002,0.81,0.86,0.78,,0.000028(N),0.000(P),"1.7,1.7,1.7,1.7(T,T,T,T)",0.0000(T),0.163,-0.295598,5.62,4.67,-0.119000,0.740000,1.467000,0.927000,0.675000,0.992000,7.6233
synonymous_variant,FAM209A,SILENT,NM_001012971.3:p.Asn47Asn/c.141T>C,aaT/aaC,LOW,,,,rs2426632,,,,,,chr20,55100005,55100005,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn47Asn/c.141T>C|171|FAM209A|protein_coding|CODING|NM_001012971.3|1|1),intron_variant(MODIFIER|||c.-564+834A>G|430|GCNT7|protein_coding|CODING|NM_080615.1|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,FAM209B,MISSENSE,NM_001013646.3:p.Gln74Lys/c.220C>A,Cag/Aag,MODERATE,,0.664736,0.5456,rs3209183,1(T),0.0(B),-1.055(N),-1.0063(T),,chr20,55108617,55108617,C,A,hom,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln74Lys/c.220C>A|171|FAM209B|protein_coding|CODING|NM_001013646.3|1|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.5256,0.5086,0.6243,0.71,0.91,0.61,,0.002909(N),1.000(P),3.44(T),0.0000(T),0.029,-2.951362,2.8,2.8,-0.769000,0.297000,2.038000,0.023000,0.101000,0.975000,5.9871
synonymous_variant,FAM209B,SILENT,NM_001013646.3:p.Gln131Gln/c.393G>A,caG/caA,LOW,COSM3758650(2),0.374002,0.0466,rs2296130,,,,,,chr20,55111371,55111371,G,A,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln131Gln/c.393G>A|171|FAM209B|protein_coding|CODING|NM_001013646.3|2|1),"GM12878:H3K36me3,HepG2:H3K27me3",,,,0.4213,0.3473,0.4483,0.49,0.54,0.46,,,,,,,,,,,,,,,,
synonymous_variant,TFAP2C,SILENT,NM_003222.3:p.Ile285Ile/c.855T>C,atT/atC,LOW,,0.0623003,0.001,rs35023929,,,,,,chr20,55209257,55209257,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile285Ile/c.855T>C|450|TFAP2C|protein_coding|CODING|NM_003222.3|5|1),"NHEK:H3K9ac,NHEK:H3K27ac,GM06990:H3K27me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.0828,0.072,0.17,0.12,0.03,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PCK1,SILENT,NM_002591.3:p.Ile94Ile/c.282C>T,atC/atT,LOW,,0.122204,0.0159,rs6070157,,,,,,chr20,56137184,56137184,C,T,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile94Ile/c.282C>T|622|PCK1|protein_coding|CODING|NM_002591.3|3|1),"HepG2:H3K4me2,GM06990:H3K27me3,GM12878:H3K27me3,HepG2:H3K27ac,HepG2:PolII,HepG2:HEY1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1472,0.1167,0.174,0.17,0.13,0.20,,,,,,,,,,,,,,,,
missense_variant,PCK1,MISSENSE,NM_002591.3:p.Val184Leu/c.550G>C,Gtg/Ctg,MODERATE,COSM3736801(1),0.846046,0.7798,rs707555,1(T),0.0(B),-3.99(N),-0.9241(T),,chr20,56137895,56137895,G,C,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val184Leu/c.550G>C|622|PCK1|protein_coding|CODING|NM_002591.3|4|1),"GM06990:H3K27me3,GM12878:H3K27me3,HepG2:PolII,HepG2:HEY1,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7209,0.8055,0.8648,0.90,0.97,0.87,,0.000000(N),0.000(P),"3.96,3.96(T,T)",0.0000(T),0.235,-0.174947,5.13,5.13,-0.120000,1.304000,4.387000,0.025000,0.904000,1.000000,16.1341
missense_variant,PCK1,MISSENSE,NM_002591.3:p.Glu276Lys/c.826G>A,Gag/Aag,MODERATE,,0.0860623,0.0079,rs11552145,1(T),0.003(B),-0.115(N),-0.9348(T),,chr20,56138648,56138648,G,A,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu276Lys/c.826G>A|622|PCK1|protein_coding|CODING|NM_002591.3|6|1),"GM12878:H3K27me3,HepG2:PolII,HepG2:HEY1,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.1442,0.1052,0.172,0.15,0.05,0.19,,0.002042(N),0.000(P),"2.92,2.92(T,T)",0.0000(T),0.047,-0.511127,5.27,-2.16,-0.254000,-0.018000,0.080000,0.272000,0.257000,0.008000,7.5477
synonymous_variant,PCK1,SILENT,NM_002591.3:p.Gly380Gly/c.1140T>C,ggT/ggC,LOW,,0.786941,0.7728,rs2070756,,,,,,chr20,56139403,56139403,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly380Gly/c.1140T>C|622|PCK1|protein_coding|CODING|NM_002591.3|7|1),"HepG2:PolII,HepG2:HEY1,NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.6708,0.7147,0.7425,0.80,0.93,0.74,,,,,,,,,,,,,,,,
missense_variant,ZBP1,MISSENSE,NM_030776.2:p.Gln258Arg/c.773A>G,cAg/cGg,MODERATE,,0.996406,1,rs2865394,0.51(T),"0.0,0.0(B,B)",-1.1(N),-1.0196(T),,chr20,56186884,56186884,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln257Arg/c.770A>G|428|ZBP1|protein_coding|CODING|NM_001160417.1|6|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln183Arg/c.548A>G|354|ZBP1|protein_coding|CODING|NM_001160418.1|5|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln258Arg/c.773A>G|429|ZBP1|protein_coding|CODING|NM_030776.2|6|1),downstream_gene_variant(MODIFIER||1057||248|ZBP1|protein_coding|CODING|NM_001160419.2||1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9942,0.9861,0.99,1.00,0.99,,0.038339(N),1.000(P),"3.14,2.77,3.14,3.11(T,T,T,T)",0.0000(T),0.032,-0.856200,3.15,-2.03,-1.007000,-0.779000,-1.674000,0.014000,0.000000,0.000000,5.5929
missense_variant,ZBP1,MISSENSE,NM_030776.2:p.Asp154His/c.460G>C,Gac/Cac,MODERATE,,0.0535144,0.0079,rs16981187,0.14(T),"0.077,0.126,0.179,0.126(B,B,B,B)",0.46(N),-1.0719(T),,chr20,56189985,56189985,C,G,het,"missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp154His/c.460G>C|428|ZBP1|protein_coding|CODING|NM_001160417.1|4|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp79His/c.235G>C|354|ZBP1|protein_coding|CODING|NM_001160418.1|3|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp154His/c.460G>C|248|ZBP1|protein_coding|CODING|NM_001160419.2|4|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp154His/c.460G>C|429|ZBP1|protein_coding|CODING|NM_030776.2|4|1)","GM12878:H3K36me3,CD4:H4K20me1,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0879,0.0432,0.0487,0.06,0.07,0.05,,0.130409(N),1.000(N),"1.54,1.54,1.54,1.54,1.54(T,T,T,T,T)",0.0029(T),0.101,1.103680,3.39,-5.43,-0.175000,-1.257000,-1.232000,0.024000,0.000000,0.000000,5.7903
missense_variant,ZBP1,MISSENSE,NM_030776.2:p.Glu88Lys/c.262G>A,Gag/Aag,MODERATE,,0.604633,0.745,rs2073145,0.13(T),"0.001,0.006,0.001(B,B,B)",0.205(N),-0.9834(T),,chr20,56190634,56190634,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu88Lys/c.262G>A|428|ZBP1|protein_coding|CODING|NM_001160417.1|3|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu13Lys/c.37G>A|354|ZBP1|protein_coding|CODING|NM_001160418.1|2|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu88Lys/c.262G>A|248|ZBP1|protein_coding|CODING|NM_001160419.2|3|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu88Lys/c.262G>A|429|ZBP1|protein_coding|CODING|NM_030776.2|3|1),splice_region_variant(LOW|||c.262G>A|428|ZBP1|protein_coding|CODING|NM_001160417.1|3|1),splice_region_variant(LOW|||c.37G>A|354|ZBP1|protein_coding|CODING|NM_001160418.1|2|1),splice_region_variant(LOW|||c.262G>A|248|ZBP1|protein_coding|CODING|NM_001160419.2|3|1),splice_region_variant(LOW|||c.262G>A|429|ZBP1|protein_coding|CODING|NM_030776.2|3|1)","GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,CD4:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",Hippocampal_atrophy,,,0.8548,0.7205,0.6441,0.56,0.31,0.68,,0.325330(N),1.000(P),"2.9,2.54,2.87,2.46(T,T,T,T)",0.0000(T),0.099,0.561172,3.46,-1.1,-0.137000,-0.152000,-0.396000,0.007000,0.000000,0.000000,3.246
synonymous_variant,PMEPA1,SILENT,NM_020182.4:p.Gly284Gly/c.852A>G,ggA/ggG,LOW,COSM3758656(1),0.0109824,0,rs61744856,,,,,,chr20,56227121,56227121,T,C,het,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly256Gly/c.768A>G|259|PMEPA1|protein_coding|CODING|NM_001255976.1|4|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly284Gly/c.852A>G|287|PMEPA1|protein_coding|CODING|NM_020182.4|4|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly249Gly/c.747A>G|252|PMEPA1|protein_coding|CODING|NM_199169.2|4|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly234Gly/c.702A>G|237|PMEPA1|protein_coding|CODING|NM_199170.2|4|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly234Gly/c.702A>G|237|PMEPA1|protein_coding|CODING|NM_199171.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0164,0.0144,0.0268,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,PMEPA1,SILENT,NM_020182.4:p.Ser153Ser/c.459A>G,tcA/tcG,LOW,COSM329547(2),0.311102,0.3661,rs6025698,,,,,,chr20,56227514,56227514,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser125Ser/c.375A>G|259|PMEPA1|protein_coding|CODING|NM_001255976.1|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser153Ser/c.459A>G|287|PMEPA1|protein_coding|CODING|NM_020182.4|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser118Ser/c.354A>G|252|PMEPA1|protein_coding|CODING|NM_199169.2|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser103Ser/c.309A>G|237|PMEPA1|protein_coding|CODING|NM_199170.2|4|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser103Ser/c.309A>G|237|PMEPA1|protein_coding|CODING|NM_199171.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1973,0.1801,0.1451,0.27,0.47,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PMEPA1,SILENT,NM_020182.4:p.Pro147Pro/c.441A>G,ccA/ccG,LOW,COSM1412695(3),0.668131,0.8363,rs6025699,,,,,,chr20,56227532,56227532,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro119Pro/c.357A>G|259|PMEPA1|protein_coding|CODING|NM_001255976.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro147Pro/c.441A>G|287|PMEPA1|protein_coding|CODING|NM_020182.4|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro112Pro/c.336A>G|252|PMEPA1|protein_coding|CODING|NM_199169.2|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro97Pro/c.291A>G|237|PMEPA1|protein_coding|CODING|NM_199170.2|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro97Pro/c.291A>G|237|PMEPA1|protein_coding|CODING|NM_199171.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7464,0.6412,0.7505,0.67,0.48,0.76,,,,,,,,,,,,,,,,
missense_variant,PMEPA1,MISSENSE,NM_020182.4:p.Glu128Asp/c.384G>C,gaG/gaC,MODERATE,COSM3758657(1),0.0838658,0,rs41314918,1(T),"0.0,0.0(B,B)",-1.98(N),-0.9578(T),,chr20,56227589,56227589,C,G,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu100Asp/c.300G>C|259|PMEPA1|protein_coding|CODING|NM_001255976.1|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu128Asp/c.384G>C|287|PMEPA1|protein_coding|CODING|NM_020182.4|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu93Asp/c.279G>C|252|PMEPA1|protein_coding|CODING|NM_199169.2|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu78Asp/c.234G>C|237|PMEPA1|protein_coding|CODING|NM_199170.2|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu78Asp/c.234G>C|237|PMEPA1|protein_coding|CODING|NM_199171.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0194,0.0331,0.0308,0.10,0.21,0.04,,0.000364(N),0.999(P),"1.15,1.15,1.15,1.15,1.15,1.11,0.99(T,T,T,T,T,T,T)",0.0000(T),0.17,-0.239755,4.97,2.94,-0.187000,0.123000,1.293000,0.764000,0.998000,1.000000,9.8077
missense_variant,APCDD1L,MISSENSE,NM_153360.1:p.Cys30Arg/c.88T>C,Tgc/Cgc,MODERATE,,0.460863,0.3998,rs3946003,1(T),"0.0,0.0(B,B)",-1.7(N),-0.9257(T),,chr20,57045765,57045765,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys30Arg/c.88T>C|501|APCDD1L|protein_coding|CODING|NM_153360.1|2|1),"IMR90:H3K36me3,HepG2:H3K27me3",,,,0.4305,0.4265,0.3688,0.41,0.53,0.34,,0.679412(N),1.000(P),"2.66,2.65,1.59(T,T,T)",0.0000(T),0.048,-1.528342,4.88,1.78,-0.119000,-0.034000,0.784000,0.047000,0.001000,0.187000,3.6523
synonymous_variant,STX16,SILENT,NM_001001433.2:p.Gln180Gln/c.540G>A,caG/caA,LOW,,0.474441,0.4147,rs2296524,,,,,,chr20,57244493,57244493,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln180Gln/c.540G>A|325|STX16|protein_coding|CODING|NM_001001433.2|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln176Gln/c.528G>A|321|STX16|protein_coding|CODING|NM_001134772.2|4|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln163Gln/c.489G>A|308|STX16|protein_coding|CODING|NM_001134773.2|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln127Gln/c.381G>A|272|STX16|protein_coding|CODING|NM_001204868.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln159Gln/c.477G>A|304|STX16|protein_coding|CODING|NM_003763.5|4|1),intron_variant(MODIFIER|||n.1097-1075G>A||STX16||CODING|NR_037941.1|4|1),intron_variant(MODIFIER|||n.490-1075G>A||STX16||CODING|NR_037942.1|5|1),intron_variant(MODIFIER|||n.447-1075G>A||STX16||CODING|NR_037943.1|4|1),non_coding_exon_variant(MODIFIER|||n.1294G>A||STX16-NPEPL1||NON_CODING|NR_037945.1|5|1)","H1ESC:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27ac,HSMM:H3K36me3,H1ESC:DNase1,H1ESC:H4K5ac,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4877,0.4553,0.5,0.52,0.48,0.53,,,,,,,,,,,,,,,,
missense_variant,NPEPL1,MISSENSE,NM_024663.3:p.Leu513Val/c.1537C>G,Ctg/Gtg,MODERATE,,,,rs6026468,1(T),"0.0,0.0,0.0(B,B,B)",-0.895(N),-0.9282(T),,chr20,57290347,57290347,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu485Val/c.1453C>G|495|NPEPL1|protein_coding|CODING|NM_001204872.1|13|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu465Val/c.1393C>G|475|NPEPL1|protein_coding|CODING|NM_001204873.1|13|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu513Val/c.1537C>G|523|NPEPL1|protein_coding|CODING|NM_024663.3|12|1),non_coding_exon_variant(MODIFIER|||n.3495C>G||STX16-NPEPL1||NON_CODING|NR_037945.1|23|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.67,0.79,0.61,,0.406447(N),1.000(P),"1.55,1.57,1.57(T,T,T)",0.0000(T),0.068,-1.760425,5.26,-10.5,-1.773000,-3.969000,-0.623000,0.217000,0.000000,0.000000,1.4758
synonymous_variant,CTSZ,SILENT,NM_001336.3:p.Ser244Ser/c.732T>C,tcT/tcC,LOW,,0.698882,0.7798,rs9760,,,,,,chr20,57571763,57571763,A,G,het,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser244Ser/c.732T>C|303|CTSZ|protein_coding|CODING|NM_001336.3|5|1),downstream_gene_variant(MODIFIER||1575||599|NELFCD|protein_coding|CODING|NM_198976.2||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6769,0.6167,0.6352,0.67,0.72,0.64,,,,,,,,,,,,,,,,
synonymous_variant,CTSZ,SILENT,NM_001336.3:p.Tyr207Tyr/c.621T>C,taT/taC,LOW,,0.999401,1,rs163785,,,,,,chr20,57572675,57572675,A,G,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr207Tyr/c.621T>C|303|CTSZ|protein_coding|CODING|NM_001336.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,TUBB1,SILENT,NM_030773.3:p.Thr178Thr/c.534T>G,acT/acG,LOW,,0.999002,1,rs163777,,,,,,chr20,57599016,57599016,T,G,hom,synonymous_variant(LOW|SILENT|acT/acG|p.Thr178Thr/c.534T>G|451|TUBB1|protein_coding|CODING|NM_030773.3|4|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,TUBB1,MISSENSE,NM_030773.3:p.Arg307His/c.920G>A,cGt/cAt,MODERATE,COSM3736283(2),0.14397,0.1042,rs6070697,0(D),0.002(B),-2.11(N),-1.0186(T),,chr20,57599402,57599402,G,A,het,missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg307His/c.920G>A|451|TUBB1|protein_coding|CODING|NM_030773.3|4|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1544,0.1527,0.2048,0.16,0.13,0.17,,0.000445(N),0.001(P),-1.43(T),0.0001(T),0.087,-0.171452,5.41,1.91,0.561000,0.656000,1.933000,0.995000,0.868000,0.930000,9.4486
missense_variant,ZNF831,MISSENSE,NM_178457.2:p.Ser1513Pro/c.4537T>C,Tca/Cca,MODERATE,COSM1412769(2),0.618211,0.9107,rs259956,1(T),0.0(B),-1.06(N),-0.9762(T),,chr20,57829301,57829301,T,C,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser1513Pro/c.4537T>C|1677|ZNF831|protein_coding|CODING|NM_178457.2|5|1),"CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K27me3,CD4:H2BK20ac,H1ESC:H3K27me3,CD4:H3K27ac,HMEC:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,CD4:H4K5ac,CD4:H3K4ac,CD4:H3K4me2,HepG2:H3K27me3",,,,0.7975,0.6081,0.5606,0.47,0.34,0.54,,0.943747(N),1.000(P),3.53(T),0.0000(T),0.013,-0.591513,5.6,-2.98,-0.197000,-0.195000,-0.381000,0.001000,0.000000,0.000000,1.5739
synonymous_variant,CDH4,SILENT,NM_001794.4:p.Asp446Asp/c.1338C>T,gaC/gaT,LOW,COSM1685461(3),0.704872,0.5367,rs2427240,,,,,,chr20,60485627,60485627,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp409Asp/c.1227C>T|879|CDH4|protein_coding|CODING|NM_001252338.2|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp372Asp/c.1116C>T|842|CDH4|protein_coding|CODING|NM_001252339.2|8|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp446Asp/c.1338C>T|916|CDH4|protein_coding|CODING|NM_001794.4|9|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.7924,0.8501,0.9314,0.83,0.61,0.94,,,,,,,,,,,,,,,,
missense_variant,CDH4,MISSENSE,NM_001794.4:p.Lys625Arg/c.1874A>G,aAg/aGg,MODERATE,COSM3758683(3),0.567292,0.8413,rs6142884,,0.001(B),-0.98(N),-0.9728(T),,chr20,60503350,60503350,A,G,het,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys588Arg/c.1763A>G|879|CDH4|protein_coding|CODING|NM_001252338.2|11|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys551Arg/c.1652A>G|842|CDH4|protein_coding|CODING|NM_001252339.2|11|1),missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys625Arg/c.1874A>G|916|CDH4|protein_coding|CODING|NM_001794.4|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.7495,0.5793,0.5239,0.45,0.32,0.52,,0.004045(N),0.999(P),"0.18,0.18(T,T)",0.0000(T),0.086,-1.998776,4.56,-2.0,-0.464000,-0.818000,0.395000,0.022000,0.432000,0.994000,12.4864
synonymous_variant,CDH4,SILENT,NM_001794.4:p.Gly825Gly/c.2475C>T,ggC/ggT,LOW,COSM1412878(1),0.161342,0.1498,rs3753045,,,,,,chr20,60509209,60509209,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly788Gly/c.2364C>T|879|CDH4|protein_coding|CODING|NM_001252338.2|14|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly751Gly/c.2253C>T|842|CDH4|protein_coding|CODING|NM_001252339.2|14|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly825Gly/c.2475C>T|916|CDH4|protein_coding|CODING|NM_001794.4|15|1)","GM12878:H3K36me3,H1ESC:DNase1,HepG2:H3K27me3",,,,0.2311,0.1988,0.2535,0.19,0.06,0.25,,,,,,,,,,,,,,,,
synonymous_variant,TAF4,SILENT,NM_003185.3:p.Ala1011Ala/c.3033G>T,gcG/gcT,LOW,COSM1412879(2),0.587061,0.6528,rs2296081,,,,,,chr20,60572663,60572663,C,A,het,synonymous_variant(LOW|SILENT|gcG/gcT|p.Ala1011Ala/c.3033G>T|1085|TAF4|protein_coding|CODING|NM_003185.3|14|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5695,0.5879,0.672,0.61,0.51,0.66,,,,,,,,,,,,,,,,
synonymous_variant,TAF4,SILENT,NM_003185.3:p.Gln328Gln/c.984A>G,caA/caG,LOW,COSM4134718(2),,,rs1886009,,,,,,chr20,60639883,60639883,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln328Gln/c.984A>G|1085|TAF4|protein_coding|CODING|NM_003185.3|1|1),"K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K4me1,HepG2:H3K4me3,CD4:Tip60,HepG2:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PSMA7,SILENT,NM_002792.3:p.Arg169Arg/c.507C>T,cgC/cgT,LOW,,0.598243,0.7738,rs7076,,,,-1.0130(T),,chr20,60713311,60713311,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg169Arg/c.507C>T|248|PSMA7|protein_coding|CODING|NM_002792.3|5|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:Nrsf,GM06990:H3K36me3",,,,0.7219,0.7392,0.8032,0.61,0.25,0.80,,,0.000(P),,0.0000(T),.,-0.429897,5.12,-1.69,-1.008000,-0.567000,-0.355000,0.151000,0.946000,0.112000,6.494
synonymous_variant,PSMA7,SILENT,NM_002792.3:p.Gly162Gly/c.486T>C,ggT/ggC,LOW,,0.85643,0.8165,rs1135961,,,,-1.0586(T),,chr20,60713332,60713332,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly162Gly/c.486T>C|248|PSMA7|protein_coding|CODING|NM_002792.3|5|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HeLa-S3:Nrsf,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:Nrsf,GM06990:H3K36me3",,,,0.7955,0.8818,0.8678,0.87,0.91,0.86,,,0.000(P),,0.0000(T),.,1.214463,5.12,2.79,-0.213000,0.584000,0.350000,0.929000,1.000000,0.998000,11.75
synonymous_variant,HRH3,SILENT,NM_007232.2:p.Ser332Ser/c.996G>A,tcG/tcA,LOW,COSM3758689(2),0.490415,0.3671,rs3787429,,,,,,chr20,60791404,60791404,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser332Ser/c.996G>A|445|HRH3|protein_coding|CODING|NM_007232.2|3|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5746,0.4986,0.4056,0.45,0.55,0.39,,,,,,,,,,,,,,,,
synonymous_variant,ADRM1,SILENT,NM_007002.3:p.Ala136Ala/c.408G>A,gcG/gcA,LOW,,0.817891,0.9752,rs2427273,,,,,,chr20,60881330,60881330,G,A,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala97Ala/c.291G>A|368|ADRM1|protein_coding|CODING|NM_001281437.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala97Ala/c.291G>A|368|ADRM1|protein_coding|CODING|NM_001281438.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala136Ala/c.408G>A|407|ADRM1|protein_coding|CODING|NM_007002.3|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala136Ala/c.408G>A|407|ADRM1|protein_coding|CODING|NM_175573.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.8323,0.8818,0.9046,0.84,0.66,0.93,,,,,,,,,,,,,,,,
synonymous_variant,ADRM1,SILENT,NM_007002.3:p.Leu177Leu/c.531T>C,ctT/ctC,LOW,,0.962859,0.9841,rs2427275,,,,,,chr20,60881780,60881780,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu138Leu/c.414T>C|368|ADRM1|protein_coding|CODING|NM_001281437.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu138Leu/c.414T>C|368|ADRM1|protein_coding|CODING|NM_001281438.1|4|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu177Leu/c.531T>C|407|ADRM1|protein_coding|CODING|NM_007002.3|5|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu177Leu/c.531T>C|407|ADRM1|protein_coding|CODING|NM_175573.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.999,0.9899,0.998,0.97,0.91,1.00,,,,,,,,,,,,,,,,
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Arg3079Trp/c.9235C>T,Cgg/Tgg,MODERATE,COSM444167(11),0.677117,0.7411,rs944895,0.01(D),0.545(P),0(N),-0.9026(T),,chr20,60887581,60887581,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg3079Trp/c.9235C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|68|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7802,0.6988,0.6431,0.62,0.57,0.65,,0.085827(N),1.000(P),-1.18(T),0.0000(T),0.185,1.026390,4.36,3.38,0.556000,2.269000,-0.605000,0.038000,0.064000,0.000000,3.2954
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Pro3075Leu/c.9224C>T,cCg/cTg,MODERATE,,0.0634984,0.006,rs41307205,0.4(T),0.003(B),0.345(N),-1.1237(T),,chr20,60887691,60887691,G,A,het,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro3075Leu/c.9224C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|67|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.182,0.1023,0.0577,0.03,0.01,0.04,,0.427816(N),1.000(N),-1.07(T),0.0058(T),0.046,0.794965,4.78,-2.61,-0.366000,-0.866000,0.323000,0.376000,0.002000,0.001000,4.5381
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Asp2462Asp/c.7386T>C,gaT/gaC,LOW,,0.999201,1,rs2427281,,,,,,chr20,60892526,60892526,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp2462Asp/c.7386T>C|3695|LAMA5|protein_coding|CODING|NM_005560.4|55|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,0.999,1.00,1.00,1.00,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Ala2458Ala/c.7374C>T,gcC/gcT,LOW,,0.00219649,0,rs146174815,,,,,,chr20,60892538,60892538,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2458Ala/c.7374C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|55|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0072,0.005,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Asp2062Asn/c.6184G>A,Gat/Aat,MODERATE,COSM4134724(1),0.477835,0.747,rs2274934,0.39(T),0.023(B),0.71(N),-1.0357(T),,chr20,60897487,60897487,C,T,het,missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp2062Asn/c.6184G>A|3695|LAMA5|protein_coding|CODING|NM_005560.4|47|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6084,0.5159,0.5547,0.43,0.15,0.57,,0.199131(U),0.000(P),1.47(T),0.0000(T),0.034,1.319163,3.82,2.83,0.485000,0.768000,0.835000,0.008000,0.068000,0.025000,7.0499
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Val1900Met/c.5698G>A,Gtg/Atg,MODERATE,COSM149203(3),0.66274,0.7907,rs2427283,0.13(T),0.231(B),1.855(L),-0.9858(T),,chr20,60899206,60899206,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val1900Met/c.5698G>A|3695|LAMA5|protein_coding|CODING|NM_005560.4|43|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6595,0.7061,0.667,0.65,0.54,0.70,,0.032219(U),1.000(P),0.02(T),0.0000(T),0.255,1.236089,4.22,1.99,0.478000,0.699000,0.486000,0.121000,0.017000,0.237000,5.8577
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Phe1807Ser/c.5420T>C,tTc/tCc,MODERATE,,0.89397,0.9802,rs2427284,1(T),0.0(B),-1.855(N),-0.9499(T),,chr20,60900481,60900481,A,G,het,missense_variant(MODERATE|MISSENSE|tTc/tCc|p.Phe1807Ser/c.5420T>C|3695|LAMA5|protein_coding|CODING|NM_005560.4|41|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8211,0.9568,0.9364,0.92,0.85,0.95,,0.000000(N),0.000(P),1.44(T),0.0000(T),0.055,-0.472758,4.84,4.84,-0.227000,1.033000,4.754000,0.101000,0.986000,1.000000,13.335
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Thr1774Thr/c.5322G>T,acG/acT,LOW,,0.89397,0.9802,rs2427285,,,,,,chr20,60900579,60900579,C,A,het,synonymous_variant(LOW|SILENT|acG/acT|p.Thr1774Thr/c.5322G>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|41|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8211,0.9568,0.9364,0.92,0.85,0.95,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Tyr1708Tyr/c.5124C>T,taC/taT,LOW,,0.00179712,0,rs45540543,,,,,,chr20,60902011,60902011,G,A,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr1708Tyr/c.5124C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|39|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0061,0,0.003,0.00,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Lys1367Glu/c.4099A>G,Aag/Gag,MODERATE,COSM4134726(1),0.908746,0.9792,rs2427286,1(T),0.0(B),-1.79(N),-0.9620(T),,chr20,60904853,60904853,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys1367Glu/c.4099A>G|3695|LAMA5|protein_coding|CODING|NM_005560.4|32|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.819,0.9611,0.9364,0.93,0.89,0.95,,0.000026(N),0.000(P),2.25(T),0.0000(T),0.091,0.539763,4.36,4.36,-0.330000,0.850000,2.971000,0.931000,0.993000,0.987000,12.441
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Met1258Thr/c.3773T>C,aTg/aCg,MODERATE,COSM3758701(1),0.756589,0.9365,rs3810548,0.64(T),0.0(B),-0.69(N),-1.0379(T),,chr20,60905878,60905878,A,G,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1258Thr/c.3773T>C|3695|LAMA5|protein_coding|CODING|NM_005560.4|30|1),downstream_gene_variant(MODIFIER||1665|||MIR4758||NON_CODING|NR_039915.2||1)","NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7853,0.8098,0.9175,0.81,0.56,0.93,,0.519719(N),1.000(P),2.3(T),0.0000(T),0.028,-1.703247,5.15,1.82,-0.119000,0.504000,1.193000,0.000000,0.000000,0.001000,4.0389
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Glu1178Glu/c.3534A>G,gaA/gaG,LOW,COSM1412945(2),0.731629,0.9375,rs2151513,,,,,,chr20,60907446,60907446,T,C,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu1178Glu/c.3534A>G|3695|LAMA5|protein_coding|CODING|NM_005560.4|28|1),downstream_gene_variant(MODIFIER||97|||MIR4758||NON_CODING|NR_039915.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7975,0.804,0.9225,0.77,0.45,0.93,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Ala1127Ala/c.3381C>T,gcC/gcT,LOW,COSM444171(3),0.701278,0.9355,rs6142734,,,,,,chr20,60907675,60907675,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1127Ala/c.3381C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|27|1),upstream_gene_variant(MODIFIER||62|||MIR4758||NON_CODING|NR_039915.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7863,0.7781,0.8787,0.73,0.41,0.89,,,,,,,,,,,,,,,,
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Leu1099Phe/c.3295C>T,Ctt/Ttt,MODERATE,,0.00179712,0,rs138521932,0.01(D),0.083(B),1.565(L),-1.0619(T),,chr20,60907761,60907761,G,A,het,"missense_variant(MODERATE|MISSENSE|Ctt/Ttt|p.Leu1099Phe/c.3295C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|27|1),upstream_gene_variant(MODIFIER||148|||MIR4758||NON_CODING|NR_039915.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0061,0,0.003,0.00,0.00,0.01,,0.005017(U),1.000(D),2.02(T),0.0221(T),0.315,1.633999,4.23,2.15,0.289000,2.177000,1.065000,0.334000,0.988000,1.000000,6.6057
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Cys957Cys/c.2871C>T,tgC/tgT,LOW,COSM1412950(3),0.721446,0.9365,rs13044266,,,,,,chr20,60908964,60908964,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys957Cys/c.2871C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|23|1),upstream_gene_variant(MODIFIER||1351|||MIR4758||NON_CODING|NR_039915.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8006,0.7983,0.9155,0.75,0.41,0.92,,,,,,,,,,,,,,,,
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Thr956Ala/c.2866A>G,Acc/Gcc,MODERATE,COSM4134728(2),0.721246,0.9355,rs13042941,0.89(T),0.0(B),-0.41(N),-0.9542(T),,chr20,60908969,60908969,T,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr956Ala/c.2866A>G|3695|LAMA5|protein_coding|CODING|NM_005560.4|23|1),upstream_gene_variant(MODIFIER||1356|||MIR4758||NON_CODING|NR_039915.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8006,0.7983,0.9155,0.75,0.41,0.92,,0.265331(N),1.000(P),2.2(T),0.0000(T),0.014,-1.104490,4.83,-1.97,-1.085000,-0.784000,-0.029000,0.052000,0.004000,0.074000,14.6204
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Pro925Pro/c.2775T>C,ccT/ccC,LOW,COSM4134729(1),0.756589,0.9365,rs13038331,,,,,,chr20,60909060,60909060,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro925Pro/c.2775T>C|3695|LAMA5|protein_coding|CODING|NM_005560.4|23|1),upstream_gene_variant(MODIFIER||1447|||MIR4758||NON_CODING|NR_039915.2||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7873,0.8069,0.9165,0.80,0.54,0.93,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Thr709Thr/c.2127A>G,acA/acG,LOW,COSM1412953(2),0.740815,0.9365,rs2427289,,,,,,chr20,60912683,60912683,T,C,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr709Thr/c.2127A>G|3695|LAMA5|protein_coding|CODING|NM_005560.4|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:PolII,GM12878:ZEB1,IMR90:H3K36me3,GM12878:EBF,HeLa-S3:PolII,NHEK:H3K36me3,GM12878:H3K4me1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM12878:DNase1,GM06990:DNase1,GM12878:Tcf12",,,,0.7863,0.8055,0.9155,0.78,0.49,0.93,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Ala488Ala/c.1464C>T,gcC/gcT,LOW,,0.522564,0.7401,rs11204472,,,,,,chr20,60920887,60920887,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala488Ala/c.1464C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,HepG2:DNase1",,,,0.6288,0.6412,0.667,0.54,0.23,0.70,,,,,,,,,,,,,,,,
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Thr401Ala/c.1201A>G,Acc/Gcc,MODERATE,COSM4134732(1),0.859425,0.9613,rs4925229,0.41(T),0.113(B),0.9(L),-0.9431(T),,chr20,60921643,60921643,T,C,hom,missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr401Ala/c.1201A>G|3695|LAMA5|protein_coding|CODING|NM_005560.4|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.9693,0.853,0.9771,0.88,0.69,0.98,,0.000046(D),0.086(P),"0.16,0.16,0.16(T,T,T)",0.0000(T),0.155,0.446120,4.63,4.63,0.459000,1.719000,1.064000,0.201000,0.996000,0.765000,7.1385
missense_variant,LAMA5,MISSENSE,NM_005560.4:p.Pro317Leu/c.950C>T,cCg/cTg,MODERATE,,0.013778,0,rs78026347,0.06(T),0.571(P),0.805(L),-0.9672(T),,chr20,60926766,60926766,G,A,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro317Leu/c.950C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|6|1),upstream_gene_variant(MODIFIER||1300|||LAMA5-AS1||NON_CODING|NR_109922.1||1),upstream_gene_variant(MODIFIER||1300|||LAMA5-AS1||NON_CODING|NR_109923.1||1),upstream_gene_variant(MODIFIER||1300|||LAMA5-AS1||NON_CODING|NR_109924.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.001,0.0043,0.003,0.02,0.04,0.01,,0.000000(D),1.000(D),"-0.0,-0.0,-0.0(T,T,T)",0.0545(T),0.599,2.403746,4.3,3.34,-0.309000,0.797000,6.176000,0.039000,0.190000,1.000000,12.2194
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Ala212Ala/c.636G>A,gcG/gcA,LOW,COSM444175(2),0.751198,0.9405,rs483876,,,,,,chr20,60927349,60927349,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala212Ala/c.636G>A|3695|LAMA5|protein_coding|CODING|NM_005560.4|4|1),upstream_gene_variant(MODIFIER||717|||LAMA5-AS1||NON_CODING|NR_109922.1||1),upstream_gene_variant(MODIFIER||717|||LAMA5-AS1||NON_CODING|NR_109923.1||1),upstream_gene_variant(MODIFIER||717|||LAMA5-AS1||NON_CODING|NR_109924.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.7904,0.8026,0.9215,0.79,0.53,0.93,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Ser191Ser/c.573C>T,tcC/tcT,LOW,COSM444176(5),0.51897,0.7341,rs386602046,,,,,,chr20,60927412,60927412,G,A,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser191Ser/c.573C>T|3695|LAMA5|protein_coding|CODING|NM_005560.4|4|1),upstream_gene_variant(MODIFIER||654|||LAMA5-AS1||NON_CODING|NR_109922.1||1),upstream_gene_variant(MODIFIER||654|||LAMA5-AS1||NON_CODING|NR_109923.1||1),upstream_gene_variant(MODIFIER||654|||LAMA5-AS1||NON_CODING|NR_109924.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.6319,0.6369,0.6581,0.52,0.21,0.67,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Ser130Ser/c.390T>C,agT/agC,LOW,,0.0756789,0.0089,rs41284996,,,,,,chr20,60937516,60937516,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser130Ser/c.390T>C|3695|LAMA5|protein_coding|CODING|NM_005560.4|2|1),"H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,H1ESC:H4K5ac,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HMEC:H3K4me1,HepG2:H3K36me3",,,,0.1912,0.0375,0.0527,0.06,0.07,0.05,,,,,,,,,,,,,,,,
synonymous_variant,LAMA5,SILENT,NM_005560.4:p.Cys103Cys/c.309T>C,tgT/tgC,LOW,COSM3758705(1),0.829673,0.8938,rs477859,,,,,,chr20,60937597,60937597,A,G,hom,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys103Cys/c.309T>C|3695|LAMA5|protein_coding|CODING|NM_005560.4|2|1),"H1ESC:H3K36me3,HeLa-S3:Cmyc,HeLa-S3:DNase1,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27ac,H1ESC:H4K5ac,IMR90:H3K36me3,H1ESC:H3K4me1,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HMEC:H3K4me1,HepG2:H3K36me3",,,,0.8425,0.866,0.7793,0.78,0.77,0.78,,,,,,,,,,,,,,,,
missense_variant,CABLES2,MISSENSE,NM_031215.2:p.Thr428Lys/c.1283C>A,aCg/aAg,MODERATE,COSM3766628(1),0.902556,0.7004,rs6089219,,,-1.895(N),-0.9531(T),,chr20,60966318,60966318,G,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr428Lys/c.1283C>A|478|CABLES2|protein_coding|CODING|NM_031215.2|9|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9305,0.9452,0.9264,0.94,0.98,0.93,,,0.999(P),,0.0000(T),.,-0.125395,5.56,5.56,-0.363000,0.947000,4.101000,0.176000,1.000000,1.000000,12.9122
synonymous_variant,GATA5,SILENT,NM_080473.4:p.Pro376Pro/c.1128A>G,ccA/ccG,LOW,COSM3758710(3),0.629193,0.5238,rs6061550,,,,,,chr20,61039958,61039958,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro376Pro/c.1128A>G|397|GATA5|protein_coding|CODING|NM_080473.4|7|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.728,0.451,0.4791,0.60,0.78,0.51,,,,,,,,,,,,,,,,
synonymous_variant,GATA5,SILENT,NM_080473.4:p.Ser327Ser/c.981G>C,tcG/tcC,LOW,COSM3721897(3),0.534545,0.4613,rs6061243,,,,,,chr20,61040453,61040453,C,G,het,synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser327Ser/c.981G>C|397|GATA5|protein_coding|CODING|NM_080473.4|6|1),"HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4775,0.4755,0.4642,0.54,0.65,0.48,,,,,,,,,,,,,,,,
synonymous_variant,GATA5,SILENT,NM_080473.4:p.Lys284Lys/c.852G>A,aaG/aaA,LOW,COSM149205(6),0.529553,0.4315,rs6587239,,,,,,chr20,61040951,61040951,C,T,het,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys284Lys/c.852G>A|397|GATA5|protein_coding|CODING|NM_080473.4|5|1),"GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4765,0.4769,0.4622,0.54,0.65,0.48,,,,,,,,,,,,,,,,
missense_variant,GATA5,MISSENSE,NM_080473.4:p.Thr67Pro/c.199A>C,Aca/Cca,MODERATE,COSM3749728(1),0.142572,0.1042,rs6142775,1(T),0.002(B),-0.55(N),-0.6863(T),,chr20,61050379,61050379,T,G,het,missense_variant(MODERATE|MISSENSE|Aca/Cca|p.Thr67Pro/c.199A>C|397|GATA5|protein_coding|CODING|NM_080473.4|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2239,0.1888,0.161,,,,,,0.948(P),-4.73(D),0.0051(T),0.114,0.109478,3.87,1.8,0.164000,0.202000,-0.175000,0.057000,0.427000,0.472000,6.3257
missense_variant,GATA5,MISSENSE,NM_080473.4:p.Gln3Arg/c.8A>G,cAg/cGg,MODERATE,,0.000599042,0,rs113068438,0.01(D),0.583(P),2.52(M),0.7039(D),,chr20,61050570,61050570,T,C,het,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln3Arg/c.8A>G|397|GATA5|protein_coding|CODING|NM_080473.4|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.001,0,0.001,0.00,0.00,0.00,,0.026042(N),0.960(N),-5.12(D),0.9117(D),0.304,3.334837,3.86,1.32,0.329000,0.006000,2.418000,0.647000,0.997000,1.000000,10.0391
missense_variant,C20orf166,MISSENSE,NM_178463.3:p.Val27Ala/c.80T>C,gTg/gCg,MODERATE,COSM3758712(6),0.576677,0.3284,rs6062251,0.74(T),0.0(B),0(N),-0.9610(T),,chr20,61162267,61162267,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val27Ala/c.80T>C|117|C20orf166|protein_coding|CODING|NM_178463.3|3|1),downstream_gene_variant(MODIFIER||47|||MIR133A2||NON_CODING|NR_029676.1||1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6227,0.5605,0.6243,0.63,0.67,0.61,,,1.000(P),1.25(T),0.0000(T),0.029,1.198845,3.93,-7.86,-0.320000,-1.689000,-2.298000,0.007000,0.000000,0.000000,3.8336
missense_variant,SLCO4A1,MISSENSE,NM_016354.3:p.Val78Ile/c.232G>A,Gtc/Atc,MODERATE,COSM3758714(2),0.148562,0.1677,rs1047099,0.32(T),0.004(B),1.185(L),-1.0466(T),,chr20,61288038,61288038,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val78Ile/c.232G>A|722|SLCO4A1|protein_coding|CODING|NM_016354.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HUVEC:DNase1,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1605,0.1585,0.2903,0.20,0.05,0.27,,0.032622(N),1.000(P),"0.95,0.95(T,T)",0.0000(T),0.057,1.711049,3.79,1.77,0.462000,0.256000,0.676000,0.366000,0.002000,0.000000,5.8169
synonymous_variant,SLCO4A1,SILENT,NM_016354.3:p.Gly183Gly/c.549G>T,ggG/ggT,LOW,COSM1412975(2),0.153954,0.1706,rs3195701,,,,,,chr20,61288355,61288355,G,T,het,synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly183Gly/c.549G>T|722|SLCO4A1|protein_coding|CODING|NM_016354.3|2|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.1779,0.1599,0.2913,0.20,0.06,0.27,,,,,,,,,,,,,,,,
synonymous_variant,OGFR,SILENT,NM_007346.2:p.Leu223Leu/c.669G>A,ctG/ctA,LOW,,0.192692,0.0476,rs13038939,,,,,,chr20,61443636,61443636,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu223Leu/c.669G>A|677|OGFR|protein_coding|CODING|NM_007346.2|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.1442,0.1542,0.2545,0.25,0.27,0.24,,,,,,,,,,,,,,,,
synonymous_variant,OGFR,SILENT,NM_007346.2:p.Pro231Pro/c.693G>A,ccG/ccA,LOW,,0.117612,0.0367,rs3204347,,,,,,chr20,61443660,61443660,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro231Pro/c.693G>A|677|OGFR|protein_coding|CODING|NM_007346.2|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0787,0.134,0.2435,0.19,0.12,0.22,,,,,,,,,,,,,,,,
synonymous_variant,OGFR,SILENT,NM_007346.2:p.Pro301Pro/c.903C>G,ccC/ccG,LOW,,0.168131,0.0357,rs11086139,,,,,,chr20,61443870,61443870,C,G,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro301Pro/c.903C>G|677|OGFR|protein_coding|CODING|NM_007346.2|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0798,0.1542,0.2475,0.24,0.26,0.23,,,,,,,,,,,,,,,,
synonymous_variant,OGFR,SILENT,NM_007346.2:p.Pro606Pro/c.1818G>A,ccG/ccA,LOW,COSM1751546(10),0.408546,0.4673,rs28368556,,,,,,chr20,61444785,61444785,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro606Pro/c.1818G>A|677|OGFR|protein_coding|CODING|NM_007346.2|7|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4509,0.3343,0.2624,,,,,,,,,,,,,,,,,,,
missense_variant,COL9A3,MISSENSE,NM_001853.3:p.Gly17Glu/c.50G>A,gGg/gAg,MODERATE,COSM3766631(1),0.0900559,0.0317,rs2294984,0(D),0.021(B),1.15(L),-0.9389(T),,chr20,61448466,61448466,G,A,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly17Glu/c.50G>A|684|COL9A3|protein_coding|CODING|NM_001853.3|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:TAF1,HepG2:DNase1,K562:DNase1",,,,0.0593,0.098,0.173,,,,,0.162377(U),0.998(P),-2.68(D),0.0023(T),0.478,0.681049,2.49,0.411,-0.920000,0.148000,0.850000,0.018000,0.817000,0.002000,8.3369
synonymous_variant,COL9A3,SILENT,NM_001853.3:p.Pro303Pro/c.909G>A,ccG/ccA,LOW,COSM4134747(1),0.0842652,0.0308,rs2249903,,,,,,chr20,61460124,61460124,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro303Pro/c.909G>A|684|COL9A3|protein_coding|CODING|NM_001853.3|18|1),"H1ESC:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.0736,0.1167,0.1889,0.14,0.06,0.18,,,,,,,,,,,,,,,,
missense_variant,COL9A3,MISSENSE,NM_001853.3:p.Ala435Glu/c.1304C>A,gCa/gAa,MODERATE,COSM1413000(1),0.212859,0.0496,rs751557,0.83(T),0.061(B),-0.115(N),-1.0935(T),,chr20,61463522,61463522,C,A,het,missense_variant(MODERATE|MISSENSE|gCa/gAa|p.Ala435Glu/c.1304C>A|684|COL9A3|protein_coding|CODING|NM_001853.3|25|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HepG2:H3K36me3",,,,0.0879,0.1729,0.2177,0.27,0.40,0.21,,0.656672(N),1.000(P),-3.27(D),0.0000(T),0.085,1.371130,5.2,4.23,0.462000,2.584000,0.934000,0.227000,0.425000,0.003000,12.5103
synonymous_variant,COL9A3,SILENT,NM_001853.3:p.Pro580Pro/c.1740T>C,ccT/ccC,LOW,COSM4134749(2),0.709864,0.5883,rs2294995,,,,,,chr20,61468571,61468571,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro580Pro/c.1740T>C|684|COL9A3|protein_coding|CODING|NM_001853.3|30|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HepG2:H3K36me3",,,,0.5266,0.6744,0.6938,0.76,0.92,0.68,,,,,,,,,,,,,,,,
missense_variant,DIDO1,MISSENSE,NM_001193369.1:p.Thr1568Ala/c.4702A>G,Act/Gct,MODERATE,COSM3758729(5),0.995008,1,rs910148,0.4(T),0.0(B),0.145(N),-1.0508(T),,chr20,61512606,61512606,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr1568Ala/c.4702A>G|2240|DIDO1|protein_coding|CODING|NM_001193369.1|16|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr1568Ala/c.4702A>G|2240|DIDO1|protein_coding|CODING|NM_033081.2|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,0.9841,0.99,1.00,0.99,,0.322621(N),1.000(P),"3.07,3.07(T,T)",0.0000(T),0.019,0.214907,5.59,-0.318,-1.922000,-0.144000,-0.374000,0.000000,0.000000,0.000000,5.4299
synonymous_variant,DIDO1,SILENT,NM_001193369.1:p.Ala621Ala/c.1863A>G,gcA/gcG,LOW,COSM1751550(1),0.673922,0.6577,rs910149,,,,,,chr20,61528074,61528074,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala621Ala/c.1863A>G|2240|DIDO1|protein_coding|CODING|NM_001193369.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala621Ala/c.1863A>G|1189|DIDO1|protein_coding|CODING|NM_001193370.1|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala621Ala/c.1863A>G|2240|DIDO1|protein_coding|CODING|NM_033081.2|7|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala621Ala/c.1863A>G|1189|DIDO1|protein_coding|CODING|NM_080797.3|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.59,0.5836,0.4801,0.63,0.86,0.52,,,,,,,,,,,,,,,,
synonymous_variant,SLC17A9,SILENT,NM_022082.3:p.Thr34Thr/c.102A>G,acA/acG,LOW,COSM3758730(4),0.769968,0.746,rs2245341,,,,,,chr20,61588159,61588159,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr34Thr/c.102A>G|436|SLC17A9|protein_coding|CODING|NM_022082.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HepG2:PolII,NHEK:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8354,0.6801,0.7117,0.73,0.82,0.68,,,,,,,,,,,,,,,,
missense_variant,SLC17A9,MISSENSE,NM_022082.3:p.Asn228Ser/c.683A>G,aAc/aGc,MODERATE,,0.971446,1,rs2427463,0.52(T),"0.004,0.002(B,B)",-1.335(N),-1.0213(T),,chr20,61594679,61594679,A,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn228Ser/c.683A>G|436|SLC17A9|protein_coding|CODING|NM_022082.3|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HepG2:PolII,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9928,1,0.97,0.92,1.00,,0.389837(N),1.000(P),"0.48,0.48(T,T)",0.0000(T),0.028,-2.151531,4.86,-1.16,-3.218000,-0.081000,0.149000,0.023000,0.022000,0.945000,3.8634
synonymous_variant,SLC17A9,SILENT,NM_022082.3:p.Ser293Ser/c.879C>T,agC/agT,LOW,COSM1413042(3),0.153954,0.1974,rs2248900,,,,,,chr20,61595636,61595636,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser293Ser/c.879C>T|436|SLC17A9|protein_coding|CODING|NM_022082.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HepG2:PolII,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1207,0.2118,0.1958,0.18,0.11,0.22,,,,,,,,,,,,,,,,
synonymous_variant,COL20A1,SILENT,NM_020882.2:p.Thr141Thr/c.423G>A,acG/acA,LOW,,0.00419329,0,rs145631155,,,,,,chr20,61937318,61937318,G,A,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr141Thr/c.423G>A|1284|COL20A1|protein_coding|CODING|NM_020882.2|5|1),"NH-A:H3K27me3,K562:E2F6,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.001,0.0029,0.0149,0.01,0.00,0.01,,,,,,,,,,,,,,,,
missense_variant,COL20A1,MISSENSE,NM_020882.2:p.Gly167Ser/c.499G>A,Ggc/Agc,MODERATE,,0.000199681,0,rs201827276,0.7(T),0.002(B),0.695(N),-0.9799(T),,chr20,61938844,61938844,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly167Ser/c.499G>A|1284|COL20A1|protein_coding|CODING|NM_020882.2|6|1),splice_region_variant(LOW|||c.499G>A|1284|COL20A1|protein_coding|CODING|NM_020882.2|6|1)","K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0,0,0,0.00,0.00,0.00,,0.906200(U),1.000(N),"-1.16,-1.16,-1.16,-1.16(T,T,T,T)",0.2194(T),0.077,0.654191,3.59,0.283,-1.786000,-0.465000,0.023000,0.003000,0.000000,0.000000,7.2734
synonymous_variant,COL20A1,SILENT,NM_020882.2:p.Gly426Gly/c.1278A>G,ggA/ggG,LOW,COSM4134776(1),0.953474,1,rs4809287,,,,,,chr20,61941747,61941747,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly426Gly/c.1278A>G|1284|COL20A1|protein_coding|CODING|NM_020882.2|11|1),"H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9813,1,0.96,0.87,1.00,,,,,,,,,,,,,,,,
synonymous_variant,COL20A1,SILENT,NM_020882.2:p.Ala1005Ala/c.3015G>C,gcG/gcC,LOW,COSM3758736(3),0.883786,0.996,rs6089881,,,,,,chr20,61951489,61951489,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala1005Ala/c.3015G>C|1284|COL20A1|protein_coding|CODING|NM_020882.2|24|1),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9857,0.964,0.997,0.91,0.72,1.00,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA4,SILENT,NM_000744.6:p.Ala553Ala/c.1659G>A,gcG/gcA,LOW,COSM3758737(2),0.351837,0.4008,rs1044397,,,,,,chr20,61981104,61981104,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala553Ala/c.1659G>A|627|CHRNA4|protein_coding|CODING|NM_000744.6|5|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala377Ala/c.1131G>A|451|CHRNA4|protein_coding|CODING|NM_001256573.1|5|1),non_coding_exon_variant(MODIFIER|||n.1915G>A||CHRNA4||CODING|NR_046317.1|5|1)","K562:H3K27me3,HepG2:H3K27me3",,RCV000079314.3,,0.411,0.4899,0.5288,0.41,0.15,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA4,SILENT,NM_000744.6:p.Ser543Ser/c.1629C>T,agC/agT,LOW,COSM3758738(3),0.323482,0.2679,rs1044396,,,,,,chr20,61981134,61981134,G,A,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser543Ser/c.1629C>T|627|CHRNA4|protein_coding|CODING|NM_000744.6|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser367Ser/c.1101C>T|451|CHRNA4|protein_coding|CODING|NM_001256573.1|5|1),non_coding_exon_variant(MODIFIER|||n.1885C>T||CHRNA4||CODING|NR_046317.1|5|1)","K562:H3K27me3,HepG2:H3K27me3",,RCV000079313.3,,0.4059,0.4899,0.5288,0.41,0.15,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA4,SILENT,NM_000744.6:p.Cys409Cys/c.1227T>C,tgT/tgC,LOW,COSM4134782(1),0.870807,1,rs2229960,,,,,,chr20,61981536,61981536,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys409Cys/c.1227T>C|627|CHRNA4|protein_coding|CODING|NM_000744.6|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys233Cys/c.699T>C|451|CHRNA4|protein_coding|CODING|NM_001256573.1|5|1),non_coding_exon_variant(MODIFIER|||n.1483T>C||CHRNA4||CODING|NR_046317.1|5|1)","H1ESC:H3K36me3,K562:H3K27me3",,RCV000079311.3,,0.9642,0.9337,0.9533,0.86,0.68,0.95,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA4,SILENT,NM_000744.6:p.Pro403Pro/c.1209G>T,ccG/ccT,LOW,COSM4134783(1),0.733826,0.8988,rs2229959,,,,,,chr20,61981554,61981554,C,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro403Pro/c.1209G>T|627|CHRNA4|protein_coding|CODING|NM_000744.6|5|1),synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro227Pro/c.681G>T|451|CHRNA4|protein_coding|CODING|NM_001256573.1|5|1),non_coding_exon_variant(MODIFIER|||n.1465G>T||CHRNA4||CODING|NR_046317.1|5|1)",H1ESC:H3K36me3,,RCV000079310.3,,0.7689,0.8674,0.8897,0.75,0.50,0.88,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA4,SILENT,NM_000744.6:p.Cys226Cys/c.678T>C,tgT/tgC,LOW,,0.863618,1,rs1044394,,,,,,chr20,61982085,61982085,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys226Cys/c.678T>C|627|CHRNA4|protein_coding|CODING|NM_000744.6|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys50Cys/c.150T>C|451|CHRNA4|protein_coding|CODING|NM_001256573.1|5|1),non_coding_exon_variant(MODIFIER|||n.934T>C||CHRNA4||CODING|NR_046317.1|5|1)","H1ESC:H3K36me3,CD4:H2BK5me1",,RCV000116723.2,,0.9642,0.928,0.9304,0.84,0.67,0.93,,,,,,,,,,,,,,,,
synonymous_variant,CHRNA4,SILENT,NM_000744.6:p.Asp213Asp/c.639T>C,gaT/gaC,LOW,,0.757188,0.8998,rs1044393,,,,,,chr20,61982124,61982124,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp213Asp/c.639T>C|627|CHRNA4|protein_coding|CODING|NM_000744.6|5|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp37Asp/c.111T>C|451|CHRNA4|protein_coding|CODING|NM_001256573.1|5|1),non_coding_exon_variant(MODIFIER|||n.895T>C||CHRNA4||CODING|NR_046317.1|5|1)",H1ESC:H3K36me3,,RCV000116722.2,,0.7699,0.8732,0.8907,0.77,0.55,0.88,,,,,,,,,,,,,,,,
missense_variant,KCNQ2,MISSENSE,NM_172107.2:p.Asn780Thr/c.2339A>C,aAc/aCc,MODERATE,COSM3758740(3),0.590455,0.6687,rs1801475,0.38(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-0.9556(T),,chr20,62038277,62038277,T,G,hom,"missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn752Thr/c.2255A>C|844|KCNQ2|protein_coding|CODING|NM_004518.4|15|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn762Thr/c.2285A>C|854|KCNQ2|protein_coding|CODING|NM_172106.1|16|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn780Thr/c.2339A>C|872|KCNQ2|protein_coding|CODING|NM_172107.2|17|1),missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn749Thr/c.2246A>C|841|KCNQ2|protein_coding|CODING|NM_172108.3|16|1)","H1ESC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000020987.1|RCV000082686.2|RCV000126472.1,,0.6605,0.5519,0.6382,0.60,0.51,0.64,,0.021394(N),0.000(P),"0.96,0.96,0.96,0.96,0.96,0.96,0.96,0.96,0.96(T,T,T,T,T,T,T,T,T)",0.0000(T),0.013,-0.249080,4.95,0.0918,-0.323000,-0.549000,1.872000,0.026000,0.004000,0.958000,7.214
missense_variant,SRMS,MISSENSE,NM_080823.3:p.Ala353Thr/c.1057G>A,Gcc/Acc,MODERATE,COSM1227561(2),,,rs61740255,0.01(D),1.0(D),1.905(M),-1.1508(T),,chr20,62172863,62172863,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala353Thr/c.1057G>A|488|SRMS|protein_coding|CODING|NM_080823.3|6|1),"H1ESC:DNase1,HepG2:H3K27me3",,,,,,,0.00,0.00,0.00,,0.000043(D),0.999(D),2.69(T),0.0729(T),0.647,2.964193,4.03,2.01,0.462000,0.277000,5.718000,0.008000,0.453000,1.000000,8.0019
synonymous_variant,C20orf195,SILENT,NM_024059.2:p.Ser57Ser/c.171T>C,agT/agC,LOW,,0.663139,0.9067,rs3746348,,,,,,chr20,62187187,62187187,T,C,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser57Ser/c.171T>C|318|C20orf195|protein_coding|CODING|NM_024059.2|2|1),"H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7914,0.6081,0.4364,0.46,0.54,0.42,,,,,,,,,,,,,,,,
synonymous_variant,C20orf195,SILENT,NM_024059.2:p.Asp141Asp/c.423T>C,gaT/gaC,LOW,COSM3749737(7),0.683706,0.9067,rs734750,,,,,,chr20,62187439,62187439,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp141Asp/c.423T>C|318|C20orf195|protein_coding|CODING|NM_024059.2|2|1),downstream_gene_variant(MODIFIER||2000||2649|HELZ2|protein_coding|CODING|NM_001037335.2||1),downstream_gene_variant(MODIFIER||2000||2080|HELZ2|protein_coding|CODING|NM_033405.3||1)","H1ESC:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8057,0.6196,0.4712,0.49,0.57,0.45,,,,,,,,,,,,,,,,
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Asn2595Asn/c.7785T>C,aaT/aaC,LOW,COSM1413132(2),0.609625,0.8502,rs3810477,,,,,,chr20,62191321,62191321,A,G,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2595Asn/c.7785T>C|2649|HELZ2|protein_coding|CODING|NM_001037335.2|19|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn2026Asn/c.6078T>C|2080|HELZ2|protein_coding|CODING|NM_033405.3|13|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HUVEC:DNase1,K562:USF1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3,GM06990:DNase1,K562:DNase1",,,,0.6483,0.5908,0.5338,0.52,0.48,0.55,,,,,,,,,,,,,,,,
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Ala2541Ala/c.7623C>T,gcC/gcT,LOW,COSM3758744(1),0.156949,0.3433,rs3810479,,,,,,chr20,62191558,62191558,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2541Ala/c.7623C>T|2649|HELZ2|protein_coding|CODING|NM_001037335.2|18|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1972Ala/c.5916C>T|2080|HELZ2|protein_coding|CODING|NM_033405.3|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2157,0.0821,0.16,0.11,0.04,0.15,,,,,,,,,,,,,,,,
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Pro2257Pro/c.6771G>A,ccG/ccA,LOW,COSM1130579(2),0.21885,0.5734,rs11551684,,,,,,chr20,62193019,62193019,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro2257Pro/c.6771G>A|2649|HELZ2|protein_coding|CODING|NM_001037335.2|13|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro1688Pro/c.5064G>A|2080|HELZ2|protein_coding|CODING|NM_033405.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2894,0.085,0.166,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.Thr2170Met/c.6509C>T,aCg/aTg,MODERATE,,0.207268,0.5734,rs3810481,0.01(D),"0.998,0.998(D,D)",2.875(M),-0.9683(T),,chr20,62193445,62193445,G,A,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr2170Met/c.6509C>T|2649|HELZ2|protein_coding|CODING|NM_001037335.2|11|1),missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr1601Met/c.4802C>T|2080|HELZ2|protein_coding|CODING|NM_033405.3|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2362,0.085,0.16,0.11,0.04,0.15,,0.000456(D),0.000(P),"-1.87,-1.87(D,D)",0.0000(T),0.276,2.414176,4.06,4.06,0.313000,1.830000,5.234000,0.007000,0.078000,1.000000,11.8752
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.Gln2049Glu/c.6145C>G,Cag/Gag,MODERATE,,0.536741,0.8482,rs3810483,1(T),"0.0,0.0(B,B)",-1.67(N),-0.9027(T),,chr20,62194030,62194030,G,C,het,"missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln2049Glu/c.6145C>G|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),missense_variant(MODERATE|MISSENSE|Cag/Gag|p.Gln1480Glu/c.4438C>G|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.4827,0.4026,0.40,0.36,0.41,,0.000666(N),1.000(P),"-1.19,-1.09(T,T)",0.0000(T),0.01,-2.030290,4.11,4.11,-0.647000,0.734000,1.822000,0.023000,0.016000,0.003000,13.8267
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Pro2024Pro/c.6072T>C,ccT/ccC,LOW,COSM3758745(4),0.547125,0.8482,rs3810484,,,,,,chr20,62194103,62194103,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2024Pro/c.6072T>C|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1455Pro/c.4365T>C|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,GM12878:Tcf12",,,,0.6288,0.4827,0.4095,0.40,0.37,0.41,,,,,,,,,,,,,,,,
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.Leu1821Arg/c.5462T>G,cTg/cGg,MODERATE,COSM3749738(4),0.244808,0.5923,rs3810486,0.47(T),"0.0,0.0(B,B)",-1.61(N),-0.9755(T),,chr20,62194713,62194713,A,C,het,"missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu1821Arg/c.5462T>G|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),missense_variant(MODERATE|MISSENSE|cTg/cGg|p.Leu1252Arg/c.3755T>G|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2924,0.1023,0.1948,0.10,0.05,0.12,,0.007649(N),1.000(P),"-1.23,-1.15(T,T)",0.0000(T),0.045,0.588046,4.54,-2.49,-0.323000,-0.351000,0.101000,0.000000,0.000000,0.000000,1.1162
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.Arg1652Gln/c.4955G>A,cGg/cAg,MODERATE,COSM3749739(5),0.232228,0.5933,rs3827022,0.86(T),"0.0,0.0(B,B)",-1.125(N),-1.0071(T),,chr20,62195220,62195220,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1652Gln/c.4955G>A|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1083Gln/c.3248G>A|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2955,0.0994,0.1958,0.14,0.05,0.18,,0.911981(N),1.000(P),"-1.26,-1.16(T,T)",0.0000(T),0.009,-0.652832,4.98,-7.43,-0.339000,-1.188000,-0.209000,0.001000,0.000000,0.000000,4.1639
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Leu1501Leu/c.4503G>A,ctG/ctA,LOW,COSM3758748(1),0.231629,0.5913,rs3827023,,,,,,chr20,62195672,62195672,C,T,het,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu1501Leu/c.4503G>A|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu932Leu/c.2796G>A|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2945,0.0994,0.1958,0.14,0.05,0.18,,,,,,,,,,,,,,,,
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.Arg1381Lys/c.4142G>A,aGg/aAg,MODERATE,COSM3758750(4),0.219449,0.5317,rs3810487,1(T),"0.004,0.004(B,B)",-0.575(N),-0.9319(T),,chr20,62196033,62196033,C,T,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg1381Lys/c.4142G>A|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg812Lys/c.2435G>A|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2935,0.0994,0.1958,0.14,0.04,0.19,,0.312409(N),1.000(P),"1.4,1.4(T,T)",0.0000(T),0.018,-1.760787,4.66,-0.274,0.491000,0.069000,0.738000,0.015000,0.059000,0.573000,4.9363
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Ala1331Ala/c.3993C>G,gcC/gcG,LOW,COSM444226(2),0.210064,0.5288,rs3810488,,,,,,chr20,62196182,62196182,G,C,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala1331Ala/c.3993C>G|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala762Ala/c.2286C>G|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2802,0.085,0.1759,0.13,0.04,0.17,,,,,,,,,,,,,,,,
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.His1123Arg/c.3368A>G,cAc/cGc,MODERATE,COSM444227(4),0.983626,1,rs310632,1(T),"0.0,0.0(B,B)",-1.175(N),-0.9618(T),,chr20,62196807,62196807,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1123Arg/c.3368A>G|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His554Arg/c.1661A>G|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9712,0.9423,0.96,0.99,0.95,,0.462561(N),1.000(P),"-1.14,-1.05(T,T)",0.0000(T),0.025,-0.926635,4.65,2.7,-0.642000,0.089000,-0.695000,0.006000,0.003000,0.000000,4.6334
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Thr1097Thr/c.3291T>C,acT/acC,LOW,COSM3758752(2),0.974441,0.999,rs310633,,,,,,chr20,62196884,62196884,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr1097Thr/c.3291T>C|2649|HELZ2|protein_coding|CODING|NM_001037335.2|9|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr528Thr/c.1584T>C|2080|HELZ2|protein_coding|CODING|NM_033405.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9898,0.9481,0.9235,0.95,0.99,0.93,,,,,,,,,,,,,,,,
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.Ser788Asn/c.2363G>A,aGc/aAc,MODERATE,COSM444229(4),0.935304,0.999,rs438363,0.64(T),"0.004,0.001(B,B)",1.04(L),-0.9720(T),,chr20,62198348,62198348,C,T,het,"missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser788Asn/c.2363G>A|2649|HELZ2|protein_coding|CODING|NM_001037335.2|7|1),missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser219Asn/c.656G>A|2080|HELZ2|protein_coding|CODING|NM_033405.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.9898,0.9092,0.8767,0.90,0.90,0.90,,0.277693(N),1.000(P),"-1.6,-1.6(D,D)",0.0000(T),0.003,-0.165770,5.13,-10.3,-2.143000,-2.525000,-0.797000,0.000000,0.000000,0.000000,2.8209
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Tyr683Tyr/c.2049T>C,taT/taC,LOW,COSM3758754(4),0.935703,0.999,rs367440,,,,,,chr20,62198662,62198662,A,G,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr683Tyr/c.2049T>C|2649|HELZ2|protein_coding|CODING|NM_001037335.2|7|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr114Tyr/c.342T>C|2080|HELZ2|protein_coding|CODING|NM_033405.3|1|1)","CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.9898,0.9092,0.8767,0.91,0.91,0.90,,,,,,,,,,,,,,,,
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Ser338Ser/c.1014A>G,tcA/tcG,LOW,COSM3758756(2),0.934904,0.999,rs1741594,,,,,,chr20,62200575,62200575,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser338Ser/c.1014A>G|2649|HELZ2|protein_coding|CODING|NM_001037335.2|5|1),upstream_gene_variant(MODIFIER||1468||2080|HELZ2|protein_coding|CODING|NM_033405.3||1)","K562:PolII,HUVEC:H3K36me3,CD4:H4K20me1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.9857,0.9078,0.8767,0.90,0.90,0.90,,,,,,,,,,,,,,,,
missense_variant,HELZ2,MISSENSE,NM_001037335.2:p.Ser338Leu/c.1013C>T,tCa/tTa,MODERATE,COSM3758757(3),0.21885,0.5298,rs6090457,0.02(D),0.084(B),1.61(L),-0.9099(T),,chr20,62200576,62200576,G,A,het,"missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser338Leu/c.1013C>T|2649|HELZ2|protein_coding|CODING|NM_001037335.2|5|1),upstream_gene_variant(MODIFIER||1469||2080|HELZ2|protein_coding|CODING|NM_033405.3||1)","K562:PolII,HUVEC:H3K36me3,CD4:H4K20me1,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2945,0.0951,0.1948,0.14,0.05,0.19,,0.003191(N),0.001(P),1.86(T),0.0000(T),0.122,1.077747,4.5,4.5,0.563000,2.068000,3.690000,0.002000,0.005000,0.992000,17.1945
synonymous_variant,HELZ2,SILENT,NM_001037335.2:p.Ala243Ala/c.729T>C,gcT/gcC,LOW,COSM444230(3),0.749201,0.9673,rs1757752,,,,,,chr20,62200860,62200860,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala243Ala/c.729T>C|2649|HELZ2|protein_coding|CODING|NM_001037335.2|5|1),upstream_gene_variant(MODIFIER||1753||2080|HELZ2|protein_coding|CODING|NM_033405.3||1)","K562:PolII,HUVEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.8149,0.7723,0.8091,0.73,0.55,0.83,,,,,,,,,,,,,,,,
synonymous_variant,GMEB2,SILENT,NM_012384.3:p.Ala59Ala/c.177A>G,gcA/gcG,LOW,,0.672724,0.6171,rs6090471,,,,,,chr20,62236148,62236148,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala59Ala/c.177A>G|530|GMEB2|protein_coding|CODING|NM_012384.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.637,0.6844,0.9165,0.81,0.62,0.91,,,,,,,,,,,,,,,,
missense_variant,RTEL1,MISSENSE,NM_001283009.1:p.Asn124Ser/c.371A>G,aAc/aGc,MODERATE,,0.0353435,0.001,rs3848668,0.65(T),"0.004,0.006,0.004,0.002(B,B,B,B)",-0.47(N),-1.0614(T),,chr20,62293272,62293272,A,G,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn124Ser/c.371A>G|1300|RTEL1|protein_coding|CODING|NM_001283009.1|4|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn124Ser/c.371A>G|1219|RTEL1|protein_coding|CODING|NM_016434.3|4|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn124Ser/c.371A>G|1243|RTEL1|protein_coding|CODING|NM_032957.4|4|1),5_prime_UTR_variant(MODIFIER||5605|c.-299A>G|996|RTEL1|protein_coding|CODING|NM_001283010.1|3|1),non_coding_exon_variant(MODIFIER|||n.1198A>G||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0521,0.0504,0.0845,0.06,0.02,0.08,,0.290957(N),1.000(N),"0.99,0.99,-0.53,0.99,-0.45(T,T,T,T,T)",0.0103(T),0.024,-1.256084,4.84,2.77,-0.624000,0.447000,1.489000,0.038000,0.020000,0.005000,7.8064
synonymous_variant,RTEL1,SILENT,NM_001283009.1:p.Ile194Ile/c.582T>C,atT/atC,LOW,,0.0662939,0.001,rs73920935,,,,,,chr20,62297400,62297400,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile194Ile/c.582T>C|1300|RTEL1|protein_coding|CODING|NM_001283009.1|7|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile194Ile/c.582T>C|1219|RTEL1|protein_coding|CODING|NM_016434.3|7|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile218Ile/c.654T>C|1243|RTEL1|protein_coding|CODING|NM_032957.4|7|1),5_prime_UTR_variant(MODIFIER||1477|c.-88T>C|996|RTEL1|protein_coding|CODING|NM_001283010.1|6|1),non_coding_exon_variant(MODIFIER|||n.1409T>C||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0521,0.0533,0.0855,0.09,0.11,0.08,,,,,,,,,,,,,,,,
synonymous_variant,RTEL1,SILENT,NM_001283009.1:p.Asp664Asp/c.1992T>C,gaT/gaC,LOW,,0.718251,0.2986,rs6062302,,,,,,chr20,62320968,62320968,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp664Asp/c.1992T>C|1300|RTEL1|protein_coding|CODING|NM_001283009.1|23|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp441Asp/c.1323T>C|996|RTEL1|protein_coding|CODING|NM_001283010.1|22|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp664Asp/c.1992T>C|1219|RTEL1|protein_coding|CODING|NM_016434.3|23|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp688Asp/c.2064T>C|1243|RTEL1|protein_coding|CODING|NM_032957.4|23|1),non_coding_exon_variant(MODIFIER|||n.2819T>C||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|23|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7311,0.7133,0.7942,0.83,0.93,0.77,,,,,,,,,,,,,,,,
synonymous_variant,RTEL1,SILENT,NM_001283009.1:p.Ala758Ala/c.2274G>A,gcG/gcA,LOW,,0.696086,0.2897,rs2236506,,,,,,chr20,62321655,62321655,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala758Ala/c.2274G>A|1300|RTEL1|protein_coding|CODING|NM_001283009.1|26|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala535Ala/c.1605G>A|996|RTEL1|protein_coding|CODING|NM_001283010.1|25|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala758Ala/c.2274G>A|1219|RTEL1|protein_coding|CODING|NM_016434.3|26|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala782Ala/c.2346G>A|1243|RTEL1|protein_coding|CODING|NM_032957.4|26|1),non_coding_exon_variant(MODIFIER|||n.3101G>A||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|26|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7342,0.7061,0.7952,0.81,0.88,0.77,,,,,,,,,,,,,,,,
synonymous_variant,RTEL1,SILENT,NM_001283009.1:p.Pro848Pro/c.2544T>C,ccT/ccC,LOW,COSM3758768(1),0.718051,0.2907,rs3208007,,,,,,chr20,62322288,62322288,T,C,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro848Pro/c.2544T>C|1300|RTEL1|protein_coding|CODING|NM_001283009.1|27|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro625Pro/c.1875T>C|996|RTEL1|protein_coding|CODING|NM_001283010.1|26|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro848Pro/c.2544T>C|1219|RTEL1|protein_coding|CODING|NM_016434.3|27|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro872Pro/c.2616T>C|1243|RTEL1|protein_coding|CODING|NM_032957.4|27|1),non_coding_exon_variant(MODIFIER|||n.3371T>C||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|27|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,GM12878:PolII,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.7352,0.7161,0.7952,0.84,0.93,0.79,,,,,,,,,,,,,,,,
synonymous_variant,RTEL1,SILENT,NM_001283009.1:p.Phe928Phe/c.2784C>T,ttC/ttT,LOW,COSM3758769(2),0.255791,0.5724,rs3848672,,,,,,chr20,62324289,62324289,C,T,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe928Phe/c.2784C>T|1300|RTEL1|protein_coding|CODING|NM_001283009.1|29|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe705Phe/c.2115C>T|996|RTEL1|protein_coding|CODING|NM_001283010.1|28|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe928Phe/c.2784C>T|1219|RTEL1|protein_coding|CODING|NM_016434.3|29|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe952Phe/c.2856C>T|1243|RTEL1|protein_coding|CODING|NM_032957.4|29|1),non_coding_exon_variant(MODIFIER|||n.3611C>T||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|29|1)","H1ESC:H3K36me3,HeLa-S3:DNase1,K562:PolII,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.2771,0.389,0.1441,0.12,0.04,0.16,,,,,,,,,,,,,,,,
missense_variant,RTEL1,MISSENSE,NM_001283009.1:p.Gln1042His/c.3126A>C,caA/caC,MODERATE,COSM3758773(3),0.736821,0.3552,rs3208008,0.19(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.69(N),-0.9218(T),,chr20,62326110,62326110,A,C,het,"missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln1042His/c.3126A>C|1300|RTEL1|protein_coding|CODING|NM_001283009.1|32|1),missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln819His/c.2457A>C|996|RTEL1|protein_coding|CODING|NM_001283010.1|31|1),missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln1042His/c.3126A>C|1219|RTEL1|protein_coding|CODING|NM_016434.3|32|1),missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln1066His/c.3198A>C|1243|RTEL1|protein_coding|CODING|NM_032957.4|32|1),upstream_gene_variant(MODIFIER||1894||300|TNFRSF6B|protein_coding|CODING|NM_003823.3||1),non_coding_exon_variant(MODIFIER|||n.3953A>C||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|32|1)","H1ESC:H3K36me3,K562:PolII,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7464,0.7349,0.7972,0.82,0.93,0.77,,0.000000(N),1.000(P),"-1.53,-1.55,-1.48,-1.53,0.89(D,D,T,D,T)",0.0000(T),0.081,1.330560,4.22,-8.36,-1.219000,-1.701000,-0.086000,0.002000,0.000000,0.000000,1.3512
synonymous_variant,TNFRSF6B,SILENT,NM_003823.3:p.Cys49Cys/c.147C>T,tgC/tgT,LOW,COSM3758776(3),0.263778,0.6478,rs2257440,0.01(D),,,-0.8977(T),,chr20,62328267,62328267,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys49Cys/c.147C>T|300|TNFRSF6B|protein_coding|CODING|NM_003823.3|1|1),downstream_gene_variant(MODIFIER||661||1300|RTEL1|protein_coding|CODING|NM_001283009.1||1),downstream_gene_variant(MODIFIER||661||996|RTEL1|protein_coding|CODING|NM_001283010.1||1),downstream_gene_variant(MODIFIER||661||1219|RTEL1|protein_coding|CODING|NM_016434.3||1),downstream_gene_variant(MODIFIER||661||1243|RTEL1|protein_coding|CODING|NM_032957.4||1),downstream_gene_variant(MODIFIER||1728||173|ARFRP1|protein_coding|CODING|NM_001134758.3||1),downstream_gene_variant(MODIFIER||1728||144|ARFRP1|protein_coding|CODING|NM_001267544.2||1),downstream_gene_variant(MODIFIER||1728||121|ARFRP1|protein_coding|CODING|NM_001267545.2||1),downstream_gene_variant(MODIFIER||1728||154|ARFRP1|protein_coding|CODING|NM_001267546.2||1),downstream_gene_variant(MODIFIER||1728||201|ARFRP1|protein_coding|CODING|NM_001267547.2||1),downstream_gene_variant(MODIFIER||1728||201|ARFRP1|protein_coding|CODING|NM_001267548.2||1),downstream_gene_variant(MODIFIER||1728||173|ARFRP1|protein_coding|CODING|NM_001267549.2||1),downstream_gene_variant(MODIFIER||1728||201|ARFRP1|protein_coding|CODING|NM_003224.5||1),downstream_gene_variant(MODIFIER||1728|||ARFRP1||CODING|NR_051954.2||1),downstream_gene_variant(MODIFIER||1728|||ARFRP1||CODING|NR_051955.2||1),downstream_gene_variant(MODIFIER||1728|||ARFRP1||CODING|NR_051956.2||1),downstream_gene_variant(MODIFIER||1728|||ARFRP1||CODING|NR_051957.2||1),downstream_gene_variant(MODIFIER||1728|||ARFRP1||CODING|NR_051958.2||1),non_coding_exon_variant(MODIFIER|||n.4881C>T||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|36|1)","H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.2536,0.2637,0.2038,0.17,0.07,0.22,,0.002584(N),0.605(P),-1.71(D),0.0000(T),.,1.092457,4.06,-8.12,-1.327000,-1.993000,-1.308000,0.152000,0.000000,0.000000,18.8802
synonymous_variant,TNFRSF6B,SILENT,NM_003823.3:p.Leu85Leu/c.255A>G,ctA/ctG,LOW,COSM3758777(2),0.965455,0.995,rs2738787,0.68(T),,,-0.9584(T),,chr20,62328375,62328375,A,G,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu85Leu/c.255A>G|300|TNFRSF6B|protein_coding|CODING|NM_003823.3|1|1),downstream_gene_variant(MODIFIER||769||1300|RTEL1|protein_coding|CODING|NM_001283009.1||1),downstream_gene_variant(MODIFIER||769||996|RTEL1|protein_coding|CODING|NM_001283010.1||1),downstream_gene_variant(MODIFIER||769||1219|RTEL1|protein_coding|CODING|NM_016434.3||1),downstream_gene_variant(MODIFIER||769||1243|RTEL1|protein_coding|CODING|NM_032957.4||1),downstream_gene_variant(MODIFIER||1620||173|ARFRP1|protein_coding|CODING|NM_001134758.3||1),downstream_gene_variant(MODIFIER||1620||144|ARFRP1|protein_coding|CODING|NM_001267544.2||1),downstream_gene_variant(MODIFIER||1620||121|ARFRP1|protein_coding|CODING|NM_001267545.2||1),downstream_gene_variant(MODIFIER||1620||154|ARFRP1|protein_coding|CODING|NM_001267546.2||1),downstream_gene_variant(MODIFIER||1620||201|ARFRP1|protein_coding|CODING|NM_001267547.2||1),downstream_gene_variant(MODIFIER||1620||201|ARFRP1|protein_coding|CODING|NM_001267548.2||1),downstream_gene_variant(MODIFIER||1620||173|ARFRP1|protein_coding|CODING|NM_001267549.2||1),downstream_gene_variant(MODIFIER||1620||201|ARFRP1|protein_coding|CODING|NM_003224.5||1),downstream_gene_variant(MODIFIER||1620|||ARFRP1||CODING|NR_051954.2||1),downstream_gene_variant(MODIFIER||1620|||ARFRP1||CODING|NR_051955.2||1),downstream_gene_variant(MODIFIER||1620|||ARFRP1||CODING|NR_051956.2||1),downstream_gene_variant(MODIFIER||1620|||ARFRP1||CODING|NR_051957.2||1),downstream_gene_variant(MODIFIER||1620|||ARFRP1||CODING|NR_051958.2||1),non_coding_exon_variant(MODIFIER|||n.4989A>G||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|36|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.9509,0.9582,0.9145,0.94,0.98,0.92,,0.390658(N),0.000(P),-1.66(D),0.0000(T),.,2.349427,4.06,2.91,-0.355000,0.071000,1.455000,0.865000,0.996000,1.000000,5.1401
synonymous_variant,TNFRSF6B,SILENT,NM_003823.3:p.Arg111Arg/c.333T>C,cgT/cgC,LOW,COSM1162309(4),0.264177,0.6468,rs2258056,,,,,,chr20,62328453,62328453,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg111Arg/c.333T>C|300|TNFRSF6B|protein_coding|CODING|NM_003823.3|1|1),downstream_gene_variant(MODIFIER||847||1300|RTEL1|protein_coding|CODING|NM_001283009.1||1),downstream_gene_variant(MODIFIER||847||996|RTEL1|protein_coding|CODING|NM_001283010.1||1),downstream_gene_variant(MODIFIER||847||1219|RTEL1|protein_coding|CODING|NM_016434.3||1),downstream_gene_variant(MODIFIER||847||1243|RTEL1|protein_coding|CODING|NM_032957.4||1),downstream_gene_variant(MODIFIER||1542||173|ARFRP1|protein_coding|CODING|NM_001134758.3||1),downstream_gene_variant(MODIFIER||1542||144|ARFRP1|protein_coding|CODING|NM_001267544.2||1),downstream_gene_variant(MODIFIER||1542||121|ARFRP1|protein_coding|CODING|NM_001267545.2||1),downstream_gene_variant(MODIFIER||1542||154|ARFRP1|protein_coding|CODING|NM_001267546.2||1),downstream_gene_variant(MODIFIER||1542||201|ARFRP1|protein_coding|CODING|NM_001267547.2||1),downstream_gene_variant(MODIFIER||1542||201|ARFRP1|protein_coding|CODING|NM_001267548.2||1),downstream_gene_variant(MODIFIER||1542||173|ARFRP1|protein_coding|CODING|NM_001267549.2||1),downstream_gene_variant(MODIFIER||1542||201|ARFRP1|protein_coding|CODING|NM_003224.5||1),downstream_gene_variant(MODIFIER||1542|||ARFRP1||CODING|NR_051954.2||1),downstream_gene_variant(MODIFIER||1542|||ARFRP1||CODING|NR_051955.2||1),downstream_gene_variant(MODIFIER||1542|||ARFRP1||CODING|NR_051956.2||1),downstream_gene_variant(MODIFIER||1542|||ARFRP1||CODING|NR_051957.2||1),downstream_gene_variant(MODIFIER||1542|||ARFRP1||CODING|NR_051958.2||1),non_coding_exon_variant(MODIFIER|||n.5067T>C||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|36|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,HepG2:H3K4me2,K562:PolII,NHEK:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.2536,0.2666,0.2048,0.17,0.07,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TNFRSF6B,SILENT,NM_003823.3:p.Ser162Ser/c.486C>T,agC/agT,LOW,COSM1178475(2),0.261781,0.6468,rs909341,,,,,,chr20,62328742,62328742,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser162Ser/c.486C>T|300|TNFRSF6B|protein_coding|CODING|NM_003823.3|2|1),downstream_gene_variant(MODIFIER||1136||1300|RTEL1|protein_coding|CODING|NM_001283009.1||1),downstream_gene_variant(MODIFIER||1136||996|RTEL1|protein_coding|CODING|NM_001283010.1||1),downstream_gene_variant(MODIFIER||1136||1219|RTEL1|protein_coding|CODING|NM_016434.3||1),downstream_gene_variant(MODIFIER||1136||1243|RTEL1|protein_coding|CODING|NM_032957.4||1),downstream_gene_variant(MODIFIER||1253||173|ARFRP1|protein_coding|CODING|NM_001134758.3||1),downstream_gene_variant(MODIFIER||1253||144|ARFRP1|protein_coding|CODING|NM_001267544.2||1),downstream_gene_variant(MODIFIER||1253||121|ARFRP1|protein_coding|CODING|NM_001267545.2||1),downstream_gene_variant(MODIFIER||1253||154|ARFRP1|protein_coding|CODING|NM_001267546.2||1),downstream_gene_variant(MODIFIER||1253||201|ARFRP1|protein_coding|CODING|NM_001267547.2||1),downstream_gene_variant(MODIFIER||1253||201|ARFRP1|protein_coding|CODING|NM_001267548.2||1),downstream_gene_variant(MODIFIER||1253||173|ARFRP1|protein_coding|CODING|NM_001267549.2||1),downstream_gene_variant(MODIFIER||1253||201|ARFRP1|protein_coding|CODING|NM_003224.5||1),downstream_gene_variant(MODIFIER||1253|||ARFRP1||CODING|NR_051954.2||1),downstream_gene_variant(MODIFIER||1253|||ARFRP1||CODING|NR_051955.2||1),downstream_gene_variant(MODIFIER||1253|||ARFRP1||CODING|NR_051956.2||1),downstream_gene_variant(MODIFIER||1253|||ARFRP1||CODING|NR_051957.2||1),downstream_gene_variant(MODIFIER||1253|||ARFRP1||CODING|NR_051958.2||1),non_coding_exon_variant(MODIFIER|||n.5220C>T||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|37|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,K562:PolII,NHEK:H3K4me3,HUVEC:PolII,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.2464,0.2637,0.2018,0.17,0.07,0.23,,,,,,,,,,,,,,,,
synonymous_variant,TNFRSF6B,SILENT,NM_003823.3:p.Thr191Thr/c.573C>G,acC/acG,LOW,COSM1413174(3),0.263578,0.6468,rs1291205,,,,,,chr20,62328829,62328829,C,G,het,"synonymous_variant(LOW|SILENT|acC/acG|p.Thr191Thr/c.573C>G|300|TNFRSF6B|protein_coding|CODING|NM_003823.3|2|1),downstream_gene_variant(MODIFIER||1223||1300|RTEL1|protein_coding|CODING|NM_001283009.1||1),downstream_gene_variant(MODIFIER||1223||996|RTEL1|protein_coding|CODING|NM_001283010.1||1),downstream_gene_variant(MODIFIER||1223||1219|RTEL1|protein_coding|CODING|NM_016434.3||1),downstream_gene_variant(MODIFIER||1223||1243|RTEL1|protein_coding|CODING|NM_032957.4||1),downstream_gene_variant(MODIFIER||1166||173|ARFRP1|protein_coding|CODING|NM_001134758.3||1),downstream_gene_variant(MODIFIER||1166||144|ARFRP1|protein_coding|CODING|NM_001267544.2||1),downstream_gene_variant(MODIFIER||1166||121|ARFRP1|protein_coding|CODING|NM_001267545.2||1),downstream_gene_variant(MODIFIER||1166||154|ARFRP1|protein_coding|CODING|NM_001267546.2||1),downstream_gene_variant(MODIFIER||1166||201|ARFRP1|protein_coding|CODING|NM_001267547.2||1),downstream_gene_variant(MODIFIER||1166||201|ARFRP1|protein_coding|CODING|NM_001267548.2||1),downstream_gene_variant(MODIFIER||1166||173|ARFRP1|protein_coding|CODING|NM_001267549.2||1),downstream_gene_variant(MODIFIER||1166||201|ARFRP1|protein_coding|CODING|NM_003224.5||1),downstream_gene_variant(MODIFIER||1166|||ARFRP1||CODING|NR_051954.2||1),downstream_gene_variant(MODIFIER||1166|||ARFRP1||CODING|NR_051955.2||1),downstream_gene_variant(MODIFIER||1166|||ARFRP1||CODING|NR_051956.2||1),downstream_gene_variant(MODIFIER||1166|||ARFRP1||CODING|NR_051957.2||1),downstream_gene_variant(MODIFIER||1166|||ARFRP1||CODING|NR_051958.2||1),non_coding_exon_variant(MODIFIER|||n.5307C>G||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1|37|1)","H1ESC:PolII,NHEK:H3K9ac,H1ESC:H3K36me3,K562:PolII,NHEK:H3K4me3,HUVEC:PolII,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,NHEK:H3K4me2,HepG2:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,0.2536,0.2637,0.2038,0.17,0.07,0.22,,,,,,,,,,,,,,,,
synonymous_variant,ARFRP1,SILENT,NM_001267547.2:p.Arg161Arg/c.483A>C,cgA/cgC,LOW,COSM3933911(1),0.264776,0.6498,rs1048665,,,,,,chr20,62331989,62331989,T,G,het,"synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg161Arg/c.483A>C|173|ARFRP1|protein_coding|CODING|NM_001134758.3|7|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg161Arg/c.483A>C|173|ARFRP1|protein_coding|CODING|NM_001267549.2|7|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg114Arg/c.342A>C|154|ARFRP1|protein_coding|CODING|NM_001267546.2|6|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg161Arg/c.483A>C|201|ARFRP1|protein_coding|CODING|NM_001267547.2|7|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg161Arg/c.483A>C|201|ARFRP1|protein_coding|CODING|NM_001267548.2|7|1),synonymous_variant(LOW|SILENT|cgA/cgC|p.Arg161Arg/c.483A>C|201|ARFRP1|protein_coding|CODING|NM_003224.5|7|1),3_prime_UTR_variant(MODIFIER||46|c.*46A>C|144|ARFRP1|protein_coding|CODING|NM_001267544.2|7|1),3_prime_UTR_variant(MODIFIER||46|c.*46A>C|121|ARFRP1|protein_coding|CODING|NM_001267545.2|6|1),downstream_gene_variant(MODIFIER||1938||300|TNFRSF6B|protein_coding|CODING|NM_003823.3||1),downstream_gene_variant(MODIFIER||1938|||RTEL1-TNFRSF6B||NON_CODING|NR_037882.1||1),non_coding_exon_variant(MODIFIER|||n.629A>C||ARFRP1||CODING|NR_051954.2|7|1),non_coding_exon_variant(MODIFIER|||n.634A>C||ARFRP1||CODING|NR_051955.2|7|1),non_coding_exon_variant(MODIFIER|||n.631A>C||ARFRP1||CODING|NR_051956.2|7|1),non_coding_exon_variant(MODIFIER|||n.626A>C||ARFRP1||CODING|NR_051957.2|7|1),non_coding_exon_variant(MODIFIER|||n.560A>C||ARFRP1||CODING|NR_051958.2|6|1)","H1ESC:H3K36me3,K562:PolII,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,HepG2:PolII,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2546,0.2637,0.2048,0.18,0.07,0.23,,,,,,,,,,,,,,,,
missense_variant,ZGPAT,MISSENSE,NM_032527.4:p.Ser61Arg/c.183C>G,agC/agG,MODERATE,COSM444235(4),0.974241,0.995,rs1291212,0.65(T),"0.0,0.0,0.0(B,B,B)",-0.895(N),-1.0174(T),,chr20,62340115,62340115,C,G,het,"missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser61Arg/c.183C>G|511|ZGPAT|protein_coding|CODING|NM_001083113.1|2|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser61Arg/c.183C>G|511|ZGPAT|protein_coding|CODING|NM_001195653.1|2|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser61Arg/c.183C>G|502|ZGPAT|protein_coding|CODING|NM_001195654.1|2|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser61Arg/c.183C>G|531|ZGPAT|protein_coding|CODING|NM_032527.4|2|1),missense_variant(MODERATE|MISSENSE|agC/agG|p.Ser61Arg/c.183C>G|511|ZGPAT|protein_coding|CODING|NM_181485.2|2|1),upstream_gene_variant(MODIFIER||910||201|ARFRP1|protein_coding|CODING|NM_001267548.2||1),upstream_gene_variant(MODIFIER||750||173|ARFRP1|protein_coding|CODING|NM_001134758.3||1),upstream_gene_variant(MODIFIER||750||144|ARFRP1|protein_coding|CODING|NM_001267544.2||1),upstream_gene_variant(MODIFIER||750||121|ARFRP1|protein_coding|CODING|NM_001267545.2||1),upstream_gene_variant(MODIFIER||750||154|ARFRP1|protein_coding|CODING|NM_001267546.2||1),upstream_gene_variant(MODIFIER||750||201|ARFRP1|protein_coding|CODING|NM_001267547.2||1),upstream_gene_variant(MODIFIER||750||173|ARFRP1|protein_coding|CODING|NM_001267549.2||1),upstream_gene_variant(MODIFIER||750||201|ARFRP1|protein_coding|CODING|NM_003224.5||1),upstream_gene_variant(MODIFIER||750|||ARFRP1||CODING|NR_051954.2||1),upstream_gene_variant(MODIFIER||750|||ARFRP1||CODING|NR_051955.2||1),upstream_gene_variant(MODIFIER||750|||ARFRP1||CODING|NR_051956.2||1),upstream_gene_variant(MODIFIER||750|||ARFRP1||CODING|NR_051957.2||1),upstream_gene_variant(MODIFIER||750|||ARFRP1||CODING|NR_051958.2||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,GM12878:H3K79me2,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.9928,0.9597,0.9155,0.94,0.98,0.92,,0.000899(N),1.000(P),"1.45,1.45,1.45,1.45,1.45,1.45(T,T,T,T,T,T)",0.0000(T),0.086,1.163750,4.36,1.2,-0.216000,-0.012000,0.164000,0.399000,0.984000,0.982000,4.9513
missense_variant,LIME1,MISSENSE,NM_017806.2:p.Pro211Leu/c.632C>T,cCa/cTa,MODERATE,,0.0257588,0.005,rs1151625,0.03(D),0.005(B),0.55(N),-1.0621(T),,chr20,62369997,62369997,C,T,het,"missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro211Leu/c.632C>T|295|LIME1|protein_coding|CODING|NM_017806.2|6|1),upstream_gene_variant(MODIFIER||1214||387|SLC2A4RG|protein_coding|CODING|NM_020062.3||1)","HepG2:H3K4me2,GM12878:H3K4me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H4K20me1,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:H3K79me2,HepG2:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:DNase1",,,,0.0072,0.0403,0.0835,0.06,0.02,0.08,,,1.000(N),1.07(T),0.0043(T),0.033,1.250553,3.15,-0.00527,0.457000,-0.075000,0.051000,0.817000,0.000000,0.000000,6.8833
synonymous_variant,SLC2A4RG,SILENT,NM_020062.3:p.Pro124Pro/c.372G>A,ccG/ccA,LOW,COSM4134813(1),0.973642,0.995,rs2427536,,,,,,chr20,62372813,62372813,G,A,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro124Pro/c.372G>A|387|SLC2A4RG|protein_coding|CODING|NM_020062.3|3|1),"H1ESC:H3K36me3,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,NHEK:H3K4me3,IMR90:H3K9ac,HeLa-S3:Max,HeLa-S3:H3K9ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,HepG2:H3K27ac,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,HUVEC:DNase1,IMR90:H3K36me3,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,HepG2:Yy1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc",,,,0.9908,0.9597,0.9155,0.94,0.98,0.92,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB46,SILENT,NM_025224.3:p.Asp359Asp/c.1077C>T,gaC/gaT,LOW,,0.0275559,0,rs35738769,,,,,,chr20,62407176,62407176,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp359Asp/c.1077C>T|589|ZBTB46|protein_coding|CODING|NM_025224.3|3|1),"H1ESC:H3K36me3,H1ESC:H3K4me2,H1ESC:DNase1,H1ESC:H3K4me3,IMR90:H3K36me3,NHEK:H3K27me3,H1ESC:CTCF",,,,0.0215,0.0476,0.0775,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB46,SILENT,NM_025224.3:p.Ala163Ala/c.489T>C,gcT/gcC,LOW,COSM1413197(1),0.265176,0.4623,rs755017,,,,,,chr20,62421622,62421622,A,G,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala163Ala/c.489T>C|589|ZBTB46|protein_coding|CODING|NM_025224.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1922,0.1974,0.1243,0.17,0.27,0.12,,,,,,,,,,,,,,,,
missense_variant,ZBTB46,MISSENSE,NM_025224.3:p.Thr11Ala/c.31A>G,Acg/Gcg,MODERATE,,0.252796,0.4613,rs2281929,0.36(T),0.002(B),-0.075(N),-0.9381(T),,chr20,62422080,62422080,T,C,het,missense_variant(MODERATE|MISSENSE|Acg/Gcg|p.Thr11Ala/c.31A>G|589|ZBTB46|protein_coding|CODING|NM_025224.3|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1922,0.1931,0.1243,0.16,0.25,0.12,,0.001002(N),0.978(P),"-0.5,-0.5,-0.5(T,T,T)",0.0000(T),0.024,-1.289329,5.39,2.25,-1.082000,-0.022000,0.272000,0.418000,0.986000,0.991000,5.1718
synonymous_variant,ZNF512B,SILENT,NM_020713.2:p.Leu526Leu/c.1578T>C,ctT/ctC,LOW,COSM3758781(3),0.492412,0.0546,rs817325,,,,,,chr20,62595169,62595169,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu526Leu/c.1578T>C|892|ZNF512B|protein_coding|CODING|NM_020713.2|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5542,0.4294,0.5696,0.63,0.73,0.57,,,,,,,,,,,,,,,,
missense_variant,ZNF512B,MISSENSE,NM_020713.2:p.Ala453Thr/c.1357G>A,Gcc/Acc,MODERATE,COSM1413219(2),0.076877,0.0149,rs6062599,0.21(T),0.003(B),1.445(L),-1.0208(T),,chr20,62595547,62595547,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala453Thr/c.1357G>A|892|ZNF512B|protein_coding|CODING|NM_020713.2|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0767,0.1153,0.2068,0.15,0.04,0.20,,0.015736(N),0.294(P),"1.72,1.72,1.72(T,T,T)",0.0000(T),0.019,1.742905,4.69,1.48,0.467000,0.008000,1.378000,0.324000,0.672000,0.919000,9.4074
missense_variant,ZNF512B,MISSENSE,NM_020713.2:p.Met372Val/c.1114A>G,Atg/Gtg,MODERATE,COSM329638(5),0.0944489,0.0149,rs817326,0.72(T),0.0(B),0.69(N),-1.0104(T),,chr20,62595990,62595990,T,C,het,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met372Val/c.1114A>G|892|ZNF512B|protein_coding|CODING|NM_020713.2|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0787,0.1225,0.2207,0.17,0.09,0.21,,0.866716(N),1.000(P),"2.03,2.03,2.03(T,T,T)",0.0000(T),0.035,-0.415806,5.55,-11.0,-1.627000,-2.664000,-2.146000,0.005000,0.000000,0.000000,8.2355
missense_variant,ZNF512B,MISSENSE,NM_020713.2:p.Val288Met/c.862G>A,Gtg/Atg,MODERATE,COSM3758782(1),0.0736821,0.0149,rs45486695,0.13(T),0.005(B),1.795(L),-1.0168(T),,chr20,62597666,62597666,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val288Met/c.862G>A|892|ZNF512B|protein_coding|CODING|NM_020713.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0767,0.1081,0.1968,0.14,0.04,0.19,,0.880474(N),1.000(P),"1.68,1.68,1.68(T,T,T)",0.0001(T),0.049,0.032527,5.1,0.786,-0.919000,0.325000,-0.701000,0.006000,0.357000,0.000000,3.5808
synonymous_variant,ZNF512B,SILENT,NM_020713.2:p.Val278Val/c.834A>C,gtA/gtC,LOW,COSM1130578(3),0.490415,0.0546,rs817329,,,,,,chr20,62597694,62597694,T,G,het,synonymous_variant(LOW|SILENT|gtA/gtC|p.Val278Val/c.834A>C|892|ZNF512B|protein_coding|CODING|NM_020713.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,GM12878:PolII,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5532,0.428,0.5676,0.62,0.73,0.57,,,,,,,,,,,,,,,,
synonymous_variant,ZNF512B,SILENT,NM_020713.2:p.Pro61Pro/c.183G>A,ccG/ccA,LOW,COSM1413222(1),0.319089,0.0516,rs817330,,,,,,chr20,62598815,62598815,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro61Pro/c.183G>A|892|ZNF512B|protein_coding|CODING|NM_020713.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,H1ESC:H3K9me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4202,0.2507,0.3767,0.40,0.45,0.37,,,,,,,,,,,,,,,,
synonymous_variant,LKAAEAR1,SILENT,NM_001007125.1:p.Ala226Ala/c.678G>C,gcG/gcC,LOW,COSM444246(3),0.624601,0.7093,rs6010717,,,,,,chr20,62714783,62714783,C,G,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala226Ala/c.678G>C|240|LKAAEAR1|protein_coding|CODING|NM_001007125.1|2|1),upstream_gene_variant(MODIFIER||1586||370|OPRL1|protein_coding|CODING|NM_001200019.1||1),intron_variant(MODIFIER|||c.-185+3078C>G|370|OPRL1|protein_coding|CODING|NM_182647.2|1|1),intron_variant(MODIFIER|||c.-34+3078C>G|370|OPRL1|protein_coding|CODING|NM_000913.4|1|1)","K562:ZBTB7A,NHEK:CTCF,K562:H3K4me3,HepG2:H3K4me2,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:DNase1,K562:CTCF,H1ESC:H3K4me2,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.4571,0.6628,0.6531,0.63,0.64,0.62,,,,,,,,,,,,,,,,
missense_variant,LKAAEAR1,MISSENSE,NM_001007125.1:p.Gly9Trp/c.25G>T,Ggg/Tgg,MODERATE,COSM4134818(1),0.484625,0.5992,rs4431000,0.02(D),0.966(D),1.39(L),-0.9169(T),,chr20,62715548,62715548,C,A,het,"missense_variant(MODERATE|MISSENSE|Ggg/Tgg|p.Gly9Trp/c.25G>T|240|LKAAEAR1|protein_coding|CODING|NM_001007125.1|1|1),upstream_gene_variant(MODIFIER||821||370|OPRL1|protein_coding|CODING|NM_001200019.1||1),intron_variant(MODIFIER|||c.-185+3843C>A|370|OPRL1|protein_coding|CODING|NM_182647.2|1|1),intron_variant(MODIFIER|||c.-34+3843C>A|370|OPRL1|protein_coding|CODING|NM_000913.4|1|1)","K562:H3K4me3,HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:DNase1,HepG2:H3K27me3",,,,0.3057,0.5403,0.4871,0.34,0.36,0.33,,0.250806(N),1.000(P),"-0.02,0.3(T,T)",0.0000(T),0.117,2.532019,1.93,0.973,0.462000,0.380000,-0.242000,0.015000,0.013000,0.000000,4.4423
synonymous_variant,NPBWR2,SILENT,NM_005286.2:p.Pro289Pro/c.867C>T,ccC/ccT,LOW,COSM4134819(1),0.448682,0.6091,rs13036542,,,,,,chr20,62737318,62737318,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro289Pro/c.867C>T|333|NPBWR2|protein_coding|CODING|NM_005286.2|1|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3313,0.5245,0.4821,0.43,0.36,0.47,,,,,,,,,,,,,,,,
missense_variant,MYT1,MISSENSE,NM_004535.2:p.Thr782Ser/c.2345C>G,aCc/aGc,MODERATE,,0.00678914,0.0149,rs78568430,0.25(T),"0.023,0.014,0.003(B,B,B)",0.755(N),-0.7725(T),,chr20,62853349,62853349,C,G,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr782Ser/c.2345C>G|1121|MYT1|protein_coding|CODING|NM_004535.2|14|1),"GM06990:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K27me3",,,,0.002,0.0058,0.0129,0.01,0.00,0.02,,0.003447(N),0.627(N),"0.96,-0.66,0.96(T,T,T)",0.1226(T),0.069,1.948117,5.36,4.41,0.655000,1.249000,2.941000,0.999000,1.000000,1.000000,16.0619
missense_variant,TPTE,MISSENSE,NM_199261.3:p.Tyr482Ser/c.1445A>C,tAt/tCt,MODERATE,,0.611222,0.5466,rs9996,1(T),"0.0,0.0,0.0(B,B,B)",-2.225(N),-0.8616(T),,chr21,10910311,10910311,T,G,het,"missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr344Ser/c.1031A>C|413|TPTE|protein_coding|CODING|NM_001290224.1|17|1),missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr464Ser/c.1391A>C|533|TPTE|protein_coding|CODING|NM_199259.3|21|1),missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr444Ser/c.1331A>C|513|TPTE|protein_coding|CODING|NM_199260.3|20|1),missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr482Ser/c.1445A>C|551|TPTE|protein_coding|CODING|NM_199261.3|22|1)",H1ESC:H3K36me3,,,,0.5409,0.5288,0.5099,,,,,0.000126(N),1.000(P),"-1.78,-1.78,-1.78(D,D,D)",0.0998(T),0.174,-3.199556,2.25,1.32,-1.122000,0.068000,0.267000,0.096000,0.106000,0.026000,4.7642
missense_variant,TPTE,MISSENSE,NM_199261.3:p.Leu470Pro/c.1409T>C,cTa/cCa,MODERATE,COSM1180664(2),0.828674,0.997,rs150482,0.37(T),"0.001,0.0,0.004(B,B,B)",-1.305(N),-0.9767(T),,chr21,10910347,10910347,A,G,het,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu332Pro/c.995T>C|413|TPTE|protein_coding|CODING|NM_001290224.1|17|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu452Pro/c.1355T>C|533|TPTE|protein_coding|CODING|NM_199259.3|21|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu432Pro/c.1295T>C|513|TPTE|protein_coding|CODING|NM_199260.3|20|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu470Pro/c.1409T>C|551|TPTE|protein_coding|CODING|NM_199261.3|22|1)",H1ESC:H3K36me3,,,,0.7229,0.6643,0.6789,,,,,0.000000(N),1.000(P),"-2.19,-2.19,-2.19(D,D,D)",0.0000(T),0.267,0.176910,2.25,2.25,-1.160000,0.522000,2.206000,0.002000,0.005000,0.928000,5.1627
missense_variant,TPTE,MISSENSE,NM_199261.3:p.Lys386Glu/c.1156A>G,Aaa/Gaa,MODERATE,,1,1,rs212146,1(T),"0.001,0.001,0.001(B,B,B)",-2.8(N),-0.9160(T),,chr21,10920098,10920098,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys248Glu/c.742A>G|413|TPTE|protein_coding|CODING|NM_001290224.1|14|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys368Glu/c.1102A>G|533|TPTE|protein_coding|CODING|NM_199259.3|18|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys348Glu/c.1042A>G|513|TPTE|protein_coding|CODING|NM_199260.3|17|1),missense_variant(MODERATE|MISSENSE|Aaa/Gaa|p.Lys386Glu/c.1156A>G|551|TPTE|protein_coding|CODING|NM_199261.3|19|1)",,,,,1,1,1,,,,,0.000000(N),1.000(P),"-4.85,-4.85,-4.85(D,D,D)",0.0000(T),0.227,-2.236165,2.32,2.32,-1.160000,0.326000,2.842000,0.172000,0.941000,1.000000,5.2837
stop_gained,TPTE,NONSENSE,NM_199261.3:p.Arg229*/c.685C>T,Cga/Tga,HIGH,COSM1579240(2),,,rs1810540,1(T),,,,TPTE:1.00(4);TPTE:1.00(4);,chr21,10942756,10942756,G,A,het,"stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg91*/c.271C>T|413|TPTE|protein_coding|CODING|NM_001290224.1|8|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg211*/c.631C>T|533|TPTE|protein_coding|CODING|NM_199259.3|12|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg191*/c.571C>T|513|TPTE|protein_coding|CODING|NM_199260.3|11|1),stop_gained(HIGH|NONSENSE|Cga/Tga|p.Arg229*/c.685C>T|551|TPTE|protein_coding|CODING|NM_199261.3|13|1)",,,,,,,,,,,,0.000003(U),1.000(A),,,.,6.526122,2.73,0.513,0.194000,-0.040000,2.540000,0.576000,0.858000,0.999000,8.5255
missense_variant,BAGE3,MISSENSE,NM_182481.1:p.Arg106Gln/c.317G>A,cGg/cAg,MODERATE,,,,rs9808647,,,,,,chr21,11049584,11049584,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg106Gln/c.317G>A|109|BAGE3|protein_coding|CODING|NM_182481.1|4|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg106Gln/c.317G>A|109|BAGE2|protein_coding|CODING|NM_182482.2|4|1),3_prime_UTR_variant(MODIFIER||47958|c.*202G>A|39|BAGE4|protein_coding|CODING|NM_181704.1|4|1),3_prime_UTR_variant(MODIFIER||47959|c.*202G>A|38|BAGE5|protein_coding|CODING|NM_182484.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE)",HMEC:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,BAGE3,SILENT,NM_182481.1:p.Ala103Ala/c.309G>A,gcG/gcA,LOW,,,,rs3906134,,,,,,chr21,11049592,11049592,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala103Ala/c.309G>A|109|BAGE3|protein_coding|CODING|NM_182481.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala103Ala/c.309G>A|109|BAGE2|protein_coding|CODING|NM_182482.2|4|1),3_prime_UTR_variant(MODIFIER||47950|c.*194G>A|39|BAGE4|protein_coding|CODING|NM_181704.1|4|1),3_prime_UTR_variant(MODIFIER||47951|c.*194G>A|38|BAGE5|protein_coding|CODING|NM_182484.1|4|1|WARNING_TRANSCRIPT_INCOMPLETE)",HMEC:H3K36me3,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,BAGE3,MISSENSE,NM_182481.1:p.Pro72Ala/c.214C>G,Cct/Gct,MODERATE,,,,rs4913558,,,,,,chr21,11058226,11058226,G,C,het,"missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro72Ala/c.214C>G|109|BAGE3|protein_coding|CODING|NM_182481.1|3|1),missense_variant(MODERATE|MISSENSE|Cct/Gct|p.Pro72Ala/c.214C>G|109|BAGE2|protein_coding|CODING|NM_182482.2|3|1),3_prime_UTR_variant(MODIFIER||39317|c.*202C>G|38|BAGE|protein_coding|CODING|NM_001187.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),3_prime_UTR_variant(MODIFIER||39316|c.*99C>G|39|BAGE4|protein_coding|CODING|NM_181704.1|3|1),3_prime_UTR_variant(MODIFIER||39317|c.*99C>G|38|BAGE5|protein_coding|CODING|NM_182484.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K9me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,BAGE3,SILENT,NM_182481.1:p.Thr71Thr/c.213A>T,acA/acT,LOW,,,,rs2775343,,,,,,chr21,11058227,11058227,T,A,het,"synonymous_variant(LOW|SILENT|acA/acT|p.Thr71Thr/c.213A>T|109|BAGE3|protein_coding|CODING|NM_182481.1|3|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr71Thr/c.213A>T|109|BAGE2|protein_coding|CODING|NM_182482.2|3|1),3_prime_UTR_variant(MODIFIER||39316|c.*201A>T|38|BAGE|protein_coding|CODING|NM_001187.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),3_prime_UTR_variant(MODIFIER||39315|c.*98A>T|39|BAGE4|protein_coding|CODING|NM_181704.1|3|1),3_prime_UTR_variant(MODIFIER||39316|c.*98A>T|38|BAGE5|protein_coding|CODING|NM_182484.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K9me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,BAGE3,MISSENSE,NM_182481.1:p.Thr71Ala/c.211A>G,Aca/Gca,MODERATE,,,,rs2775344,,,,,,chr21,11058229,11058229,T,C,het,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr71Ala/c.211A>G|109|BAGE3|protein_coding|CODING|NM_182481.1|3|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr71Ala/c.211A>G|109|BAGE2|protein_coding|CODING|NM_182482.2|3|1),3_prime_UTR_variant(MODIFIER||39314|c.*199A>G|38|BAGE|protein_coding|CODING|NM_001187.1|5|1|WARNING_TRANSCRIPT_INCOMPLETE),3_prime_UTR_variant(MODIFIER||39313|c.*96A>G|39|BAGE4|protein_coding|CODING|NM_181704.1|3|1),3_prime_UTR_variant(MODIFIER||39314|c.*96A>G|38|BAGE5|protein_coding|CODING|NM_182484.1|3|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K9me3",,,,,,,,,,,,,,,,,,,,,,,,,
splice_donor_variant,BAGE4,protein_coding,NM_181704.1:c.15A>G,,HIGH,,0.0710863,0.1052,rs73151874,,,,,BAGE:1.00(1);BAGE4:1.00(1);BAGE5:1.00(1);,chr21,11098723,11098723,T,C,het,"splice_donor_variant(HIGH|||c.15A>G|38|BAGE|protein_coding|CODING|NM_001187.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_donor_variant(HIGH|||c.15A>G|39|BAGE4|protein_coding|CODING|NM_181704.1|1|1),splice_donor_variant(HIGH|||c.15A>G|38|BAGE5|protein_coding|CODING|NM_182484.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),5_prime_UTR_variant(MODIFIER||6|c.-6A>G|109|BAGE3|protein_coding|CODING|NM_182481.1|1|1),5_prime_UTR_variant(MODIFIER||6|c.-6A>G|109|BAGE2|protein_coding|CODING|NM_182482.2|1|1),intron_variant(MODIFIER|||c.14+1A>G|38|BAGE|protein_coding|CODING|NM_001187.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.14+1A>G|39|BAGE4|protein_coding|CODING|NM_181704.1|1|1),intron_variant(MODIFIER|||c.14+1A>G|38|BAGE5|protein_coding|CODING|NM_182484.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,GM12878:H3K36me3,H1ESC:DNase1,K562:Cmyc,K562:E2F6,K562:H3K9ac,K562:Yy1,H1ESC:H3K9me3,HepG2:H3K36me3,K562:H3K79me2,K562:HEY1,K562:H3K4me2,K562:H2AZ,K562:DNase1,GM12878:Sin3Ak20",,,,0.1554,0.0288,0.0209,,,,,,,,,,,,,,,,,,,
missense_variant,BAGE4,MISSENSE,NM_181704.1:p.Gly4Arg/c.10G>A,Gga/Aga,MODERATE,,,,rs113315187,,,,,,chr21,11098728,11098728,C,T,het,"missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly4Arg/c.10G>A|39|BAGE4|protein_coding|CODING|NM_181704.1|1|1),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly4Arg/c.10G>A|38|BAGE5|protein_coding|CODING|NM_182484.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Gga/Aga|p.Gly4Arg/c.10G>A|38|BAGE|protein_coding|CODING|NM_001187.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),5_prime_UTR_variant(MODIFIER||11|c.-11G>A|109|BAGE3|protein_coding|CODING|NM_182481.1|1|1),5_prime_UTR_variant(MODIFIER||11|c.-11G>A|109|BAGE2|protein_coding|CODING|NM_182482.2|1|1)","H1ESC:H3K36me3,K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,GM12878:H3K36me3,H1ESC:DNase1,K562:Cmyc,K562:E2F6,K562:H3K9ac,K562:Yy1,H1ESC:H3K9me3,HepG2:H3K36me3,K562:H3K79me2,K562:HEY1,K562:H3K4me2,K562:H2AZ,K562:DNase1,GM12878:Sin3Ak20",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,LIPI,MISSENSE,NM_198996.2:p.Asp465Glu/c.1395C>A,gaC/gaA,MODERATE,,0.51897,0.5099,rs7278737,1(T),0.0(B),-1.7(N),-0.9782(T),,chr21,15481365,15481365,G,T,het,missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp465Glu/c.1395C>A|481|LIPI|protein_coding|CODING|NM_198996.2|10|1),,,,,0.5521,0.5403,0.502,0.50,0.51,0.49,,0.000003(N),1.000(P),"-2.07,-2.02(D,D)",0.0000(T),0.027,-2.714912,3.7,0.125,-0.976000,-0.228000,0.194000,0.092000,0.055000,0.186000,3.8141
missense_variant,LIPI,MISSENSE,NM_198996.2:p.Arg442Ser/c.1326A>T,agA/agT,MODERATE,,1,1,rs7283442,0.28(T),0.012(B),1.185(L),-1.0046(T),,chr21,15516976,15516976,T,A,hom,missense_variant(MODERATE|MISSENSE|agA/agT|p.Arg442Ser/c.1326A>T|481|LIPI|protein_coding|CODING|NM_198996.2|9|1),,,,,1,1,1,,,,,0.542994(N),1.000(P),"-2.38,-2.32(D,D)",0.0000(T),0.089,0.985529,5.34,-0.291,-0.265000,-0.152000,-0.045000,0.704000,0.139000,0.053000,3.0773
missense_variant,LIPI,MISSENSE,NM_198996.2:p.Gly385Glu/c.1154G>A,gGa/gAa,MODERATE,,0.0942492,0.25,rs74369337,0.13(T),0.939(D),2.085(M),-1.2997(T),,chr21,15524921,15524921,C,T,het,missense_variant(MODERATE|MISSENSE|gGa/gAa|p.Gly385Glu/c.1154G>A|481|LIPI|protein_coding|CODING|NM_198996.2|8|1),,,,,0.1033,0.1297,0.0199,0.02,0.01,0.02,,0.000005(D),0.991(P),"-2.41,-2.4(D,D)",0.0006(T),0.518,4.458910,5.16,5.16,0.650000,2.779000,1.928000,0.532000,0.376000,0.494000,14.8693
synonymous_variant,LIPI,SILENT,NM_198996.2:p.Ser180Ser/c.540C>T,agC/agT,LOW,COSM4001986(2),0.178315,0.2669,rs397517,,,,-1.0315(T),,chr21,15558346,15558346,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser180Ser/c.540C>T|481|LIPI|protein_coding|CODING|NM_198996.2|3|1),,,,,0.2679,0.1138,0.2177,0.17,0.07,0.22,,,0.000(P),,0.0000(T),.,0.930140,5.37,2.07,0.650000,0.762000,0.986000,0.868000,1.000000,1.000000,6.2333
missense_variant,RBM11,MISSENSE,NM_144770.3:p.Leu116Val/c.346T>G,Ttg/Gtg,MODERATE,,0.755791,0.7331,rs409782,0.57(T),0.0(B),0(N),-1.0195(T),,chr21,15596772,15596772,T,G,hom,missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu116Val/c.346T>G|281|RBM11|protein_coding|CODING|NM_144770.3|4|1),"H1ESC:H3K36me3,CD4:H3K36me3",,,,0.7996,0.6988,0.836,0.80,0.76,0.82,,0.497497(N),1.000(P),3.13(T),0.0000(T),0.008,-2.401163,0.149,0.149,-1.043000,-1.052000,-0.851000,0.988000,0.053000,0.000000,.
missense_variant,SAMSN1,MISSENSE,NM_001256370.1:p.Pro42Leu/c.125C>T,cCt/cTt,MODERATE,COSM3841632(3),0.23143,0.2679,rs2822786,0(D),0.007(B),,-1.0015(T),,chr21,15954593,15954593,G,A,het,"missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro42Leu/c.125C>T|441|SAMSN1|protein_coding|CODING|NM_001256370.1|2|1),non_coding_exon_variant(MODIFIER|||n.71G>A||SAMSN1-AS1||NON_CODING|NR_046512.2|1|1)","CD4:H2AZ,K562:H3K4me3,K562:PolII,K562:H3K27ac,CD4:DNase1,K562:Gata2,K562:Cjun,K562:H3K9ac,K562:HEY1,K562:H3K4me2,K562:H2AZ,K562:DNase1,K562:Jund",,,,0.3057,0.3156,0.341,,,,,0.638314(N),1.000(P),0.94(T),0.0000(T),0.091,1.908162,5.87,1.88,0.655000,0.125000,0.579000,0.514000,0.013000,0.000000,10.0958
missense_variant,SAMSN1,MISSENSE,NM_001256370.1:p.Asn20Asp/c.58A>G,Aac/Gac,MODERATE,,0.735024,0.5119,rs2822787,1(T),0.0(B),,-0.9326(T),,chr21,15954660,15954660,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn20Asp/c.58A>G|441|SAMSN1|protein_coding|CODING|NM_001256370.1|2|1),intron_variant(MODIFIER|||n.90+48T>C||SAMSN1-AS1||NON_CODING|NR_046512.2|1|1)","CD4:H2AZ,K562:H3K4me3,K562:PolII,K562:H3K27ac,CD4:DNase1,K562:H3K9ac,K562:HEY1,K562:H3K4me2,K562:H2AZ,K562:DNase1",,,,0.6994,0.8746,0.83,,,,,0.096198(N),1.000(P),0.98(T),0.0000(T),0.009,-1.427653,6.17,2.05,-0.119000,0.447000,-0.653000,0.032000,0.000000,0.000000,1.3137
missense_variant,LOC388813,MISSENSE,NM_001256579.2:p.Asn84Asp/c.250A>G,Aat/Gat,MODERATE,,1,1,rs456067,,,-0.345(N),-0.9427(T),,chr21,15974409,15974409,T,C,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn84Asp/c.250A>G|132|LOC388813|protein_coding|CODING|NM_001256579.2|5|1),,,,,1,1,1,,,,,,1.000(P),,0.0000(T),.,-0.448251,5.05,3.2,-0.197000,0.783000,0.496000,0.004000,0.331000,0.670000,8.6444
synonymous_variant,NRIP1,SILENT,NM_003489.3:p.Gly75Gly/c.225G>A,ggG/ggA,LOW,COSM1130565(1),0.599441,0.7738,rs2229741,,,,,,chr21,16340289,16340289,C,T,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly75Gly/c.225G>A|1158|NRIP1|protein_coding|CODING|NM_003489.3|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",Cognitive_performance,,,0.41,0.549,0.4026,0.52,0.72,0.42,,,,,,,,,,,,,,,,
synonymous_variant,USP25,SILENT,NM_001283041.1:p.Ala610Ala/c.1830A>T,gcA/gcT,LOW,,0.195887,0.1915,rs2297248,,,,-0.9396(T),,chr21,17203785,17203785,A,T,het,"synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala610Ala/c.1830A>T|1125|USP25|protein_coding|CODING|NM_001283041.1|16|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala610Ala/c.1830A>T|1087|USP25|protein_coding|CODING|NM_001283042.1|16|1),synonymous_variant(LOW|SILENT|gcA/gcT|p.Ala610Ala/c.1830A>T|1055|USP25|protein_coding|CODING|NM_013396.4|16|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1063,0.121,0.0537,0.15,0.33,0.05,,,0.000(P),,0.0000(T),.,1.509046,4.87,-9.73,-1.004000,-1.637000,-0.943000,0.965000,0.848000,0.008000,0.4793
missense_variant,C21orf91,MISSENSE,NM_001100420.1:p.Asp136Glu/c.408C>G,gaC/gaG,MODERATE,,0.260583,0.3383,rs1047978,,"0.41,0.545(B,P)",2.135(M),-0.9193(T),,chr21,19169155,19169155,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp136Glu/c.408C>G|297|C21orf91|protein_coding|CODING|NM_001100420.1|3|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp136Glu/c.408C>G|221|C21orf91|protein_coding|CODING|NM_001100421.1|3|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp136Glu/c.408C>G|296|C21orf91|protein_coding|CODING|NM_017447.3|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:HNF4A,HepG2:FOXA2,NHEK:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.2955,0.3112,0.3996,0.26,0.07,0.34,,0.000000(D),0.000(P),"1.83,1.83,1.83,1.83(T,T,T,T)",0.0000(T),0.148,3.565398,6.16,3.36,0.650000,0.924000,0.841000,0.986000,1.000000,1.000000,9.6083
missense_variant,TMPRSS15,MISSENSE,NM_002772.2:p.Pro732Ser/c.2194C>T,Cct/Tct,MODERATE,COSM4001990(1),0.700879,0.6389,rs2824721,,0.0(B),-2.125(N),-0.9620(T),,chr21,19670118,19670118,G,A,hom,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro732Ser/c.2194C>T|1019|TMPRSS15|protein_coding|CODING|NM_002772.2|19|1),,,,,0.7311,0.7205,0.7624,0.76,0.71,0.78,,0.009507(N),1.000(P),0.86(T),0.0000(T),0.185,-1.952366,5.67,5.67,-0.268000,0.980000,1.914000,0.008000,0.022000,0.236000,8.62
missense_variant,TMPRSS15,MISSENSE,NM_002772.2:p.Glu134Gln/c.400G>C,Gaa/Caa,MODERATE,COSM3758811(1),0.225639,0.0883,rs2824790,,0.567(P),1.245(L),-0.9974(T),,chr21,19756040,19756040,C,G,het,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu134Gln/c.400G>C|1019|TMPRSS15|protein_coding|CODING|NM_002772.2|4|1),HSMM:H3K27ac,,,,0.2014,0.2925,0.3101,0.27,0.24,0.29,,0.043054(N),0.998(P),"1.11,1.11(T,T)",0.0000(T),0.162,2.456114,5.81,1.98,0.655000,0.092000,0.872000,0.998000,0.998000,1.000000,8.0508
missense_variant,TMPRSS15,MISSENSE,NM_002772.2:p.Lys77Arg/c.230A>G,aAa/aGa,MODERATE,,0.10024,0.0923,rs2824804,,0.024(B),1.7(L),-1.0707(T),,chr21,19770562,19770562,T,C,het,missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys77Arg/c.230A>G|1019|TMPRSS15|protein_coding|CODING|NM_002772.2|2|1),,,,,0.1391,0.1744,0.0855,0.07,0.06,0.08,,0.153167(N),0.995(P),"1.4,1.4(T,T)",0.0006(T),0.138,0.768563,5.23,2.76,-0.329000,0.400000,0.530000,0.351000,0.705000,1.000000,5.7538
missense_variant,NCAM2,MISSENSE,NM_004540.3:p.Leu350Pro/c.1049T>C,cTg/cCg,MODERATE,,0.389776,0.5804,rs232518,0.27(T),"0.001,0.0(B,B)",-0.195(N),-0.9166(T),,chr21,22746187,22746187,T,C,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu350Pro/c.1049T>C|837|NCAM2|protein_coding|CODING|NM_004540.3|9|1),,,,,0.3139,0.2939,0.3539,0.36,0.37,0.35,,0.000432(N),0.024(P),"1.5,1.5,-0.12(T,T,T)",0.0000(T),0.045,1.491592,5.43,4.54,-0.133000,0.679000,1.490000,0.776000,0.984000,0.994000,6.1798
synonymous_variant,NCAM2,SILENT,NM_004540.3:p.Thr719Thr/c.2157A>G,acA/acG,LOW,COSM3758812(1),0.180112,0.1111,rs2017705,,,,,,chr21,22881251,22881251,A,G,het,synonymous_variant(LOW|SILENT|acA/acG|p.Thr719Thr/c.2157A>G|837|NCAM2|protein_coding|CODING|NM_004540.3|16|1),,,,,0.2219,0.1484,0.0557,0.14,0.28,0.07,,,,,,,,,,,,,,,,
synonymous_variant,MRPL39,SILENT,NM_080794.3:p.Gly299Gly/c.897C>T,ggC/ggT,LOW,,0.732428,0.7153,rs1135638,,,,,,chr21,26965148,26965148,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly299Gly/c.897C>T|338|MRPL39|protein_coding|CODING|NM_017446.3|8|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly299Gly/c.897C>T|353|MRPL39|protein_coding|CODING|NM_080794.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6115,0.8199,0.8121,0.80,0.75,0.83,,,,,,,,,,,,,,,,
synonymous_variant,MRPL39,SILENT,NM_080794.3:p.Val280Val/c.840A>G,gtA/gtG,LOW,,0.732428,0.7153,rs1057885,,,,,,chr21,26965205,26965205,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val280Val/c.840A>G|338|MRPL39|protein_coding|CODING|NM_017446.3|8|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val280Val/c.840A>G|353|MRPL39|protein_coding|CODING|NM_080794.3|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6115,0.8199,0.8121,0.80,0.75,0.83,,,,,,,,,,,,,,,,
synonymous_variant,MRPL39,SILENT,NM_080794.3:p.Lys204Lys/c.612A>G,aaA/aaG,LOW,,0.732827,0.7153,rs1135618,,,,,,chr21,26969703,26969703,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys204Lys/c.612A>G|338|MRPL39|protein_coding|CODING|NM_017446.3|6|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys204Lys/c.612A>G|353|MRPL39|protein_coding|CODING|NM_080794.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6115,0.8199,0.8141,0.80,0.75,0.83,,,,,,,,,,,,,,,,
missense_variant,MRPL39,MISSENSE,NM_080794.3:p.Ser31Pro/c.91T>C,Tca/Cca,MODERATE,,0.907947,0.9524,rs3989369,1(T),"0.0,0.002(B,B)",-0.74(N),-0.9688(T),,chr21,26978950,26978950,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser31Pro/c.91T>C|338|MRPL39|protein_coding|CODING|NM_017446.3|2|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser31Pro/c.91T>C|353|MRPL39|protein_coding|CODING|NM_080794.3|2|1)","H1ESC:H3K36me3,K562:H3K4me3,NHEK:H3K4me3,GM12878:H3K4me3,HSMM:H3K4me2,H1ESC:H3K4me2,HMEC:H3K36me3,K562:H3K36me3,HeLa-S3:H3K4me2,GM12878:H3K79me2,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HepG2:H3K4me3,NHEK:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,0.9806,0.9568,0.9523,0.90,0.80,0.96,,0.040590(N),1.000(P),"1.01,1.01,1.01(T,T,T)",0.0000(T),0.144,-1.351456,5.35,1.36,-0.186000,-0.136000,0.147000,0.491000,0.016000,0.057000,2.4139
synonymous_variant,CYYR1,SILENT,NM_052954.2:p.Val67Val/c.201T>C,gtT/gtC,LOW,COSM4134856(1),0.456669,0.3353,rs966410,,,,,,chr21,27852724,27852724,A,G,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val67Val/c.201T>C|154|CYYR1|protein_coding|CODING|NM_052954.2|3|1),H1ESC:H3K36me3,,,,0.4734,0.3444,0.4483,0.49,0.56,0.46,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS1,SILENT,NM_006988.3:p.Cys924Cys/c.2772T>C,tgT/tgC,LOW,,0.00559105,0,rs3183693,,,,,,chr21,28210030,28210030,A,G,het,synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys924Cys/c.2772T>C|967|ADAMTS1|protein_coding|CODING|NM_006988.3|9|1),"H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,NHEK:DNase1",,,,0,0.013,0.0189,0.01,0.00,0.02,,,,,,,,,,,,,,,,
missense_variant,ADAMTS1,MISSENSE,NM_006988.3:p.Ala227Pro/c.679G>C,Gct/Cct,MODERATE,COSM444321(2),0.689097,0.4484,rs428785,0.26(T),0.001(B),0(N),-1.0368(T),,chr21,28216595,28216595,C,G,het,missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala227Pro/c.679G>C|967|ADAMTS1|protein_coding|CODING|NM_006988.3|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HeLa-S3:DNase1,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,NHEK:PolII,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,NH-A:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:CTCF,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,NHEK:H3K4me2,IMR90:H3K18ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.7004,0.4928,0.7386,0.81,0.89,0.77,,,1.000(P),0.02(T),0.0000(T),0.103,1.694081,3.96,-0.151,0.462000,-0.253000,-0.072000,0.029000,0.000000,0.000000,4.1007
synonymous_variant,ADAMTS1,SILENT,NM_006988.3:p.Val194Val/c.582C>A,gtC/gtA,LOW,COSM3758814(4),0.678115,0.4484,rs445784,,,,,,chr21,28216692,28216692,G,T,het,synonymous_variant(LOW|SILENT|gtC/gtA|p.Val194Val/c.582C>A|967|ADAMTS1|protein_coding|CODING|NM_006988.3|1|1),"NHEK:H3K9ac,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,NHEK:PolII,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,IMR90:H3K18ac,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K79me2,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.7004,0.4885,0.7376,0.83,0.89,0.80,,,,,,,,,,,,,,,,
synonymous_variant,ADAMTS1,SILENT,NM_006988.3:p.Pro32Pro/c.96A>C,ccA/ccC,LOW,COSM3758815(3),0.688898,0.4484,rs434857,,,,,,chr21,28217178,28217178,T,G,het,synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro32Pro/c.96A>C|967|ADAMTS1|protein_coding|CODING|NM_006988.3|1|1),"NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,NHEK:PolII,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,HUVEC:CTCF,HMEC:H3K4me2,H1ESC:H3K4me3,HeLa-S3:CTCF,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:CTCF,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ini1,NHEK:H3K4me2,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,H1ESC:CTCF",,,,0.6994,0.4928,0.7376,0.82,0.90,0.78,,,,,,,,,,,,,,,,
missense_variant,ADAMTS5,MISSENSE,NM_007038.3:p.Leu692Pro/c.2075T>C,cTg/cCg,MODERATE,,0.809704,0.498,rs226794,1(T),0.0(B),-1.775(N),-0.9359(T),,chr21,28302355,28302355,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu692Pro/c.2075T>C|930|ADAMTS5|protein_coding|CODING|NM_007038.3|7|1),"HSMM:H3K36me3,IMR90:H3K36me3",,,,0.8763,0.732,0.8867,0.91,0.96,0.89,,0.000000(N),0.001(P),0.97(T),0.0000(T),0.153,-0.367581,5.97,5.97,-0.119000,1.555000,7.315000,0.071000,0.256000,1.000000,15.4646
synonymous_variant,ADAMTS5,SILENT,NM_007038.3:p.Arg96Arg/c.288G>C,cgG/cgC,LOW,COSM444328(2),0.0992412,0.0069,rs55933916,,,,,,chr21,28338423,28338423,C,G,het,synonymous_variant(LOW|SILENT|cgG/cgC|p.Arg96Arg/c.288G>C|930|ADAMTS5|protein_coding|CODING|NM_007038.3|1|1),"HUVEC:H3K27me3,HSMM:H3K27ac,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HSMM:H3K9ac,IMR90:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K4me3,IMR90:H3K4me3",,,,0.0828,0.0951,0.2048,0.17,0.11,0.20,,,,,,,,,,,,,,,,
missense_variant,N6AMT1,MISSENSE,NM_013240.5:p.Lys166Arg/c.497A>G,aAa/aGa,MODERATE,,1,1,rs2205446,0.86(T),"0.002,0.002(B,B)",0.385(N),-0.9684(T),,chr21,30250555,30250555,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys166Arg/c.497A>G|214|N6AMT1|protein_coding|CODING|NM_013240.5|5|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys138Arg/c.413A>G|186|N6AMT1|protein_coding|CODING|NM_182749.4|4|1),non_coding_exon_variant(MODIFIER|||n.525A>G||N6AMT1||CODING|NR_047510.2|5|1)","IMR90:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.094779(N),1.000(P),"2.56,2.26(T,T)",0.0000(T),0.088,-0.550536,5.26,1.23,-1.557000,0.117000,0.741000,0.820000,0.994000,0.730000,5.2707
missense_variant,N6AMT1,MISSENSE,NM_013240.5:p.Lys146Arg/c.437A>G,aAa/aGa,MODERATE,,1,1,rs2205447,0.45(T),"0.003,0.005(B,B)",0.245(N),-0.9530(T),,chr21,30250615,30250615,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys146Arg/c.437A>G|214|N6AMT1|protein_coding|CODING|NM_013240.5|5|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys118Arg/c.353A>G|186|N6AMT1|protein_coding|CODING|NM_182749.4|4|1),non_coding_exon_variant(MODIFIER|||n.465A>G||N6AMT1||CODING|NR_047510.2|5|1)","IMR90:H3K36me3,HepG2:H3K36me3",,,,1,1,1,,,,,0.028852(N),1.000(P),"2.52,2.1(T,T)",0.0000(T),0.067,0.615905,5.17,4.26,-0.119000,1.433000,0.728000,0.430000,0.986000,0.998000,7.544
synonymous_variant,N6AMT1,SILENT,NM_013240.5:p.Leu36Leu/c.108G>C,ctG/ctC,LOW,COSM3758818(2),0.783147,0.5317,rs1997606,,,,,,chr21,30257560,30257560,C,G,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu36Leu/c.108G>C|214|N6AMT1|protein_coding|CODING|NM_013240.5|1|1),synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu36Leu/c.108G>C|186|N6AMT1|protein_coding|CODING|NM_182749.4|1|1),non_coding_exon_variant(MODIFIER|||n.136G>C||N6AMT1||CODING|NR_047510.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ATF3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,H1ESC:H4K5ac,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:Max,GM12878:DNase1,HeLa-S3:Nrf1,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.9305,0.7435,0.8787,0.87,0.84,0.88,,,,,,,,,,,,,,,,
missense_variant,N6AMT1,MISSENSE,NM_013240.5:p.Asn34Asp/c.100A>G,Aac/Gac,MODERATE,,1,1,rs1997607,1(T),"0.0,0.0(B,B)",-2.485(N),-0.9694(T),,chr21,30257568,30257568,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn34Asp/c.100A>G|214|N6AMT1|protein_coding|CODING|NM_013240.5|1|1),missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn34Asp/c.100A>G|186|N6AMT1|protein_coding|CODING|NM_182749.4|1|1),non_coding_exon_variant(MODIFIER|||n.128A>G||N6AMT1||CODING|NR_047510.2|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,GM12878:USF1,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,IMR90:H2BK120ac,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,HeLa-S3:Max,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ATF3,HepG2:USF1,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,GM12878:Egr1,H1ESC:H4K5ac,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:Pbx3,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:Max,GM12878:DNase1,HeLa-S3:Nrf1,K562:HEY1,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,HepG2:Cmyc,K562:H2AZ,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,1,1,1,,,,,0.000000(N),1.000(P),"2.71,2.41(T,T)",0.0000(T),0.099,0.497497,5.18,5.18,-0.197000,1.439000,3.760000,0.157000,1.000000,1.000000,9.8139
synonymous_variant,USP16,SILENT,NM_001032410.1:p.Ser113Ser/c.339T>C,agT/agC,LOW,,0.000199681,0,rs143845841,,,,,,chr21,30407256,30407256,T,C,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser113Ser/c.339T>C|822|USP16|protein_coding|CODING|NM_001001992.1|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser113Ser/c.339T>C|823|USP16|protein_coding|CODING|NM_001032410.1|5|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser113Ser/c.339T>C|823|USP16|protein_coding|CODING|NM_006447.2|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM12878:PU1",,,,0,0,0.001,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,CLDN8,MISSENSE,NM_199328.2:p.Ser151Pro/c.451T>C,Tca/Cca,MODERATE,COSM4001995(1),0.41873,0.4484,rs686364,1(T),0.0(B),-2.91(N),-0.9035(T),,chr21,31587793,31587793,A,G,het,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser151Pro/c.451T>C|225|CLDN8|protein_coding|CODING|NM_199328.2|1|1),,,,,0.2331,0.2651,0.2773,0.38,0.66,0.24,,0.000001(N),0.999(P),"-2.42,-2.42(D,D)",0.0000(T),0.07,-1.429690,4.84,3.96,-0.790000,0.776000,7.728000,0.029000,0.983000,1.000000,11.4472
synonymous_variant,KRTAP24-1,SILENT,NM_001085455.2:p.Gly13Gly/c.39T>G,ggT/ggG,LOW,,1,1,rs1557291,,,,,,chr21,31655212,31655212,A,C,hom,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly13Gly/c.39T>G|254|KRTAP24-1|protein_coding|CODING|NM_001085455.2|1|1),NHEK:H3K27me3,,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP27-1,MISSENSE,NM_001077711.1:p.Ala99Val/c.296C>T,gCg/gTg,MODERATE,COSM3758829(1),0.321286,0.2639,rs2244485,0.22(T),0.15(B),1.1(L),-0.9355(T),,chr21,31709691,31709691,G,A,het,missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala99Val/c.296C>T|207|KRTAP27-1|protein_coding|CODING|NM_001077711.1|1|1),,,,,0.4213,0.3473,0.4503,0.40,0.22,0.49,,0.026127(N),1.000(P),3.98(T),0.0000(T),0.023,0.330292,4.44,0.262,0.591000,0.039000,0.536000,0.007000,0.000000,0.003000,4.478
stop_gained,KRTAP13-2,NONSENSE,NM_181621.3:p.Cys135*/c.405T>A,tgT/tgA,HIGH,COSM3758831(1),0.318091,0.2688,rs877346,0.24(T),,,,,chr21,31744127,31744127,A,T,het,stop_gained(HIGH|NONSENSE|tgT/tgA|p.Cys135*/c.405T>A|175|KRTAP13-2|protein_coding|CODING|NM_181621.3|1|1),,,,,0.4172,0.3473,0.4483,0.39,0.22,0.49,,0.431189(U),0.987(P),,,.,1.499213,4.63,2.31,-0.274000,0.865000,0.246000,0.063000,0.081000,0.001000,5.6289
synonymous_variant,KRTAP13-1,SILENT,NM_181599.2:p.Thr45Thr/c.135G>C,acG/acC,LOW,COSM3758832(1),0.186302,0.4256,rs9636833,,,,,,chr21,31768539,31768539,G,C,het,synonymous_variant(LOW|SILENT|acG/acC|p.Thr45Thr/c.135G>C|172|KRTAP13-1|protein_coding|CODING|NM_181599.2|1|1),NHEK:H3K27me3,,,,0.137,0.0677,0.1272,0.12,0.15,0.11,,,,,,,,,,,,,,,,
missense_variant,KRTAP13-4,MISSENSE,NM_181600.1:p.Ala59Thr/c.175G>A,Gcc/Acc,MODERATE,COSM3758833(2),0.551118,0.2758,rs2226548,1(T),0.001(B),-2.365(N),-0.9094(T),,chr21,31802768,31802768,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala59Thr/c.175G>A|160|KRTAP13-4|protein_coding|CODING|NM_181600.1|1|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,0.6196,0.6427,0.5736,0.60,0.64,0.59,,0.477219(N),1.000(P),4.27(T),0.0000(T),0.022,-1.772617,4.95,-2.5,-0.988000,-0.445000,-0.656000,0.021000,0.000000,0.000000,0.6398
missense_variant,KRTAP15-1,MISSENSE,NM_181623.1:p.Leu43Met/c.127C>A,Ctg/Atg,MODERATE,COSM3758834(2),0.554113,0.2788,rs2832873,0.04(D),0.622(P),2.325(M),-0.9361(T),,chr21,31812772,31812772,C,A,het,missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu43Met/c.127C>A|137|KRTAP15-1|protein_coding|CODING|NM_181623.1|1|1),HMEC:H3K27me3,,,,0.6196,0.6427,0.5736,0.61,0.64,0.59,,0.135621(N),1.000(P),3.86(T),0.0000(T),0.059,1.980915,4.79,0.826,0.655000,0.140000,0.037000,0.252000,0.961000,0.917000,3.5753
missense_variant,KRTAP19-4,MISSENSE,NM_181610.1:p.Tyr48Cys/c.143A>G,tAc/tGc,MODERATE,COSM3758835(3),0.614217,0.3194,rs2298437,0(D),0.001(B),,-1.0356(T),,chr21,31869286,31869286,T,C,het,missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr48Cys/c.143A>G|84|KRTAP19-4|protein_coding|CODING|NM_181610.1|1|1),,,,,0.6646,0.6571,0.5606,0.64,0.75,0.58,,,1.000(P),3.19(T),0.0000(T),0.058,0.586432,4.03,-4.2,-0.186000,-1.323000,-1.290000,0.143000,0.002000,0.000000,4.8584
synonymous_variant,KRTAP19-6,SILENT,NM_181612.2:p.Gly51Gly/c.153A>T,ggA/ggT,LOW,,0.747804,0.7024,rs1023364,,,,,,chr21,31914000,31914000,T,A,hom,synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly51Gly/c.153A>T|58|KRTAP19-6|protein_coding|CODING|NM_181612.2|1|1),,,,,0.771,0.7277,0.7117,0.73,0.78,0.71,,,,,,,,,,,,,,,,
missense_variant,KRTAP6-3,MISSENSE,NM_181605.3:p.Tyr51Ser/c.152A>C,tAt/tCt,MODERATE,COSM3758836(2),0.567093,0.2937,rs9305426,0(D),0.894(P),1.24(L),-0.9771(T),,chr21,31964916,31964916,A,C,het,missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr51Ser/c.152A>C|110|KRTAP6-3|protein_coding|CODING|NM_181605.3|1|1),,,,,0.6902,0.6715,0.5915,0.61,0.60,0.61,,,0.977(P),1.0(T),0.0000(T),0.19,-0.650370,2.33,2.33,0.449000,1.313000,0.056000,0.083000,0.998000,0.813000,6.5963
missense_variant,KRTAP22-1,MISSENSE,NM_181620.1:p.Leu26His/c.77T>A,cTt/cAt,MODERATE,COSM149218(1),0.839856,0.6022,rs198915,0(D),0.0(B),,-1.0653(T),,chr21,31973516,31973516,T,A,het,missense_variant(MODERATE|MISSENSE|cTt/cAt|p.Leu26His/c.77T>A|48|KRTAP22-1|protein_coding|CODING|NM_181620.1|1|1),,,,,0.9213,0.9496,0.8807,0.89,0.86,0.90,,0.537275(N),1.000(P),2.87(T),0.0000(T),0.075,0.132898,4.35,-0.461,-1.386000,-0.201000,-1.110000,0.001000,0.000000,0.000000,5.7576
missense_variant,KRTAP22-1,MISSENSE,NM_181620.1:p.Tyr29Cys/c.86A>G,tAt/tGt,MODERATE,,0.0191693,0,rs386608686,0(D),0.049(B),,-1.0741(T),,chr21,31973525,31973525,A,G,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr29Cys/c.86A>G|48|KRTAP22-1|protein_coding|CODING|NM_181620.1|1|1),,,,,0.0133,0.0375,0.0527,0.04,0.01,0.05,,0.001358(N),1.000(N),0.65(T),0.0140(T),0.211,1.395290,4.61,0.45,0.533000,-0.020000,0.449000,0.001000,0.000000,0.024000,3.6783
synonymous_variant,KRTAP7-1,SILENT,NM_181606.2:p.Gly65Gly/c.195C>A,ggC/ggA,LOW,,0.490815,0.4405,rs9982910,,,,,,chr21,32201822,32201822,G,T,het,synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly65Gly/c.195C>A|87|KRTAP7-1|protein_coding|CODING|NM_181606.2|2|1),,,,,0.5399,0.6354,0.4781,0.43,0.44,0.43,,,,,,,,,,,,,,,,
missense_variant,KRTAP7-1,MISSENSE,NM_181606.2:p.Ile61Ser/c.182T>G,aTc/aGc,MODERATE,,0.491813,0.4454,rs9982675,,,,,,chr21,32201835,32201835,A,C,het,missense_variant(MODERATE|MISSENSE|aTc/aGc|p.Ile61Ser/c.182T>G|87|KRTAP7-1|protein_coding|CODING|NM_181606.2|2|1),,,,,0.5399,0.6354,0.4781,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP7-1,MISSENSE,NM_181606.2:p.Ser51Pro/c.151T>C,Tcc/Ccc,MODERATE,,0.510583,0.4454,rs9982755,,,,,,chr21,32201866,32201866,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser51Pro/c.151T>C|87|KRTAP7-1|protein_coding|CODING|NM_181606.2|2|1),,,,,0.5665,0.6614,0.5278,,,,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP7-1,SILENT,NM_181606.2:p.His22His/c.66T>C,caT/caC,LOW,,0.510583,0.4454,rs9982775,,,,,,chr21,32201951,32201951,A,G,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His22His/c.66T>C|87|KRTAP7-1|protein_coding|CODING|NM_181606.2|2|1),,,,,0.5665,0.6614,0.5278,0.47,0.45,0.48,,,,,,,,,,,,,,,,
missense_variant,KRTAP11-1,MISSENSE,NM_175858.2:p.Cys111Ser/c.331T>A,Tgt/Agt,MODERATE,,0.17492,0.4663,rs9636845,0.08(T),0.999(D),2.445(M),-0.8768(T),,chr21,32253513,32253513,A,T,hom,missense_variant(MODERATE|MISSENSE|Tgt/Agt|p.Cys111Ser/c.331T>A|163|KRTAP11-1|protein_coding|CODING|NM_175858.2|1|1),NHEK:H3K27me3,,,,0.1738,0.2032,0.0885,0.07,0.03,0.09,,0.013280(N),0.002(P),3.61(T),0.0000(T),0.316,2.992318,5.4,5.4,0.529000,2.197000,4.106000,0.372000,0.915000,0.998000,13.7235
synonymous_variant,TIAM1,SILENT,NM_003253.2:p.Gly1477Gly/c.4431T>C,ggT/ggC,LOW,COSM3758838(1),0.535343,0.7639,rs762194,,,,,,chr21,32493031,32493031,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly1477Gly/c.4431T>C|1591|TIAM1|protein_coding|CODING|NM_003253.2|29|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.3272,0.598,0.4712,0.48,0.52,0.46,,,,,,,,,,,,,,,,
missense_variant,TIAM1,MISSENSE,NM_003253.2:p.Gly247Val/c.740G>T,gGg/gTg,MODERATE,COSM3758840(2),0.213458,0.4107,rs2070417,0.07(T),"0.118,0.055,0.055(B,B,B)",1.1(L),-0.9854(T),,chr21,32638549,32638549,C,A,het,missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly247Val/c.740G>T|1591|TIAM1|protein_coding|CODING|NM_003253.2|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.3476,0.2594,0.1133,0.07,0.03,0.08,,0.008718(N),0.000(P),"1.03,1.01(T,T)",0.0000(T),0.728,3.156271,5.4,4.45,0.585000,2.803000,4.159000,0.994000,1.000000,0.938000,14.725
missense_variant,TIAM1,MISSENSE,NM_003253.2:p.Gly247Arg/c.739G>A,Ggg/Agg,MODERATE,COSM3758841(2),0.213458,0.4107,rs2070418,0.13(T),"0.19,0.093,0.093(B,B,B)",1.1(L),-0.9474(T),,chr21,32638550,32638550,C,T,het,missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly247Arg/c.739G>A|1591|TIAM1|protein_coding|CODING|NM_003253.2|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.3476,0.2594,0.1133,0.07,0.03,0.08,,0.008718(N),0.012(P),"1.11,1.09(T,T)",0.0000(T),0.781,2.176241,5.4,4.49,0.585000,2.803000,2.031000,0.993000,0.998000,0.911000,17.6719
missense_variant,TIAM1,MISSENSE,NM_003253.2:p.Thr109Ile/c.326C>T,aCt/aTt,MODERATE,,0.00499201,0.001,rs34882418,0(D),"0.414,0.168,0.235(B,B,B)",1.245(L),-0.8364(T),,chr21,32638963,32638963,G,A,het,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr109Ile/c.326C>T|1591|TIAM1|protein_coding|CODING|NM_003253.2|5|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.0112,0.0058,0.0089,0.01,0.00,0.02,,0.008108(N),0.891(D),"0.84,0.8(T,T)",0.0753(T),0.174,2.881565,5.59,4.71,0.591000,1.350000,5.112000,0.997000,0.979000,1.000000,16.6572
synonymous_variant,HUNK,SILENT,NM_014586.1:p.Leu471Leu/c.1413T>C,ctT/ctC,LOW,,0.703075,0.6726,rs2070371,,,,,,chr21,33368188,33368188,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu471Leu/c.1413T>C|714|HUNK|protein_coding|CODING|NM_014586.1|10|1),"H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K36me3",,,,0.7423,0.7017,0.7555,0.74,0.68,0.77,,,,,,,,,,,,,,,,
missense_variant,URB1,MISSENSE,NM_014825.2:p.Val1791Leu/c.5371G>C,Gtt/Ctt,MODERATE,COSM149220(2),0.898762,0.7292,rs3761342,1(T),0.002(B),-0.785(N),-0.9044(T),,chr21,33694224,33694224,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtt/Ctt|p.Val1791Leu/c.5371G>C|2271|URB1|protein_coding|CODING|NM_014825.2|34|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.956,0.8905,0.9235,0.94,0.97,0.93,,0.136252(N),1.000(P),1.86(T),0.0000(T),0.033,-1.653897,5.24,-10.5,-2.086000,-2.572000,-4.221000,0.011000,0.000000,0.000000,11.9174
synonymous_variant,URB1,SILENT,NM_014825.2:p.Lys1146Lys/c.3438G>A,aaG/aaA,LOW,,0.680911,0.5605,rs2070378,,,,,,chr21,33719695,33719695,C,T,hom,synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys1146Lys/c.3438G>A|2271|URB1|protein_coding|CODING|NM_014825.2|22|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7505,0.5994,0.8519,0.80,0.68,0.86,,,,,,,,,,,,,,,,
missense_variant,C21orf62,MISSENSE,NM_001162495.2:p.Phe181Leu/c.543T>A,ttT/ttA,MODERATE,,1,1,rs74617086,1(T),0.0(B),-2.135(N),-0.9749(T),,chr21,34166190,34166190,A,T,hom,"missense_variant(MODERATE|MISSENSE|ttT/ttA|p.Phe181Leu/c.543T>A|219|C21orf62|protein_coding|CODING|NM_001162495.2|4|1),missense_variant(MODERATE|MISSENSE|ttT/ttA|p.Phe181Leu/c.543T>A|219|C21orf62|protein_coding|CODING|NM_001162496.2|2|1),missense_variant(MODERATE|MISSENSE|ttT/ttA|p.Phe181Leu/c.543T>A|219|C21orf62|protein_coding|CODING|NM_019596.5|3|1),intron_variant(MODIFIER|||n.435-3059A>T||C21orf49||NON_CODING|NR_024622.1|3|1),intron_variant(MODIFIER|||n.423-3059A>T||C21orf49||NON_CODING|NR_024623.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,1,1,1,,,,,,0.652(N),,0.0101(T),0.227,-1.387371,5.57,-2.94,-0.527000,-0.787000,0.737000,0.063000,0.000000,1.000000,5.7566
synonymous_variant,C21orf62,SILENT,NM_001162495.2:p.Glu130Glu/c.390G>A,gaG/gaA,LOW,,0.727436,0.9157,rs2231390,,,,,,chr21,34166343,34166343,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu130Glu/c.390G>A|219|C21orf62|protein_coding|CODING|NM_001162495.2|4|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu130Glu/c.390G>A|219|C21orf62|protein_coding|CODING|NM_001162496.2|2|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu130Glu/c.390G>A|219|C21orf62|protein_coding|CODING|NM_019596.5|3|1),intron_variant(MODIFIER|||n.435-2906C>T||C21orf49||NON_CODING|NR_024622.1|3|1),intron_variant(MODIFIER|||n.423-2906C>T||C21orf49||NON_CODING|NR_024623.1|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.7117,0.8127,0.7565,0.71,0.60,0.77,,,,,,,,,,,,,,,,
synonymous_variant,OLIG2,SILENT,NM_005806.3:p.Ser77Ser/c.231A>G,tcA/tcG,LOW,COSM3766647(1),0.439696,0.1845,rs762178,,,,,,chr21,34399401,34399401,A,G,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser77Ser/c.231A>G|323|OLIG2|protein_coding|CODING|NM_005806.3|2|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.4325,0.5245,0.5726,0.56,0.52,0.58,,,,,,,,,,,,,,,,
missense_variant,IFNGR2,MISSENSE,NM_005534.3:p.Gln64Arg/c.191A>G,cAa/cGa,MODERATE,COSM3758854(1),0.271965,0.4296,rs9808753,,"0.001,0.002(B,B)",0.685(N),-1.0008(T),,chr21,34787312,34787312,A,G,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln64Arg/c.191A>G|337|IFNGR2|protein_coding|CODING|NM_005534.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3272,0.196,0.1431,0.17,0.22,0.14,,0.507005(N),1.000(P),"-0.73,-0.73(T,T)",0.0000(T),0.029,-2.136795,5.39,-1.31,-1.557000,-0.769000,0.163000,0.006000,0.107000,0.198000,7.2739
missense_variant,GART,MISSENSE,NM_000819.4:p.Val421Ile/c.1261G>A,Gtc/Atc,MODERATE,,0.874201,0.9831,rs8788,1(T),0.001(B),-3.51(N),-0.9488(T),,chr21,34897113,34897113,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val421Ile/c.1261G>A|433|GART|protein_coding|CODING|NM_175085.2|11|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val421Ile/c.1261G>A|1010|GART|protein_coding|CODING|NM_000819.4|11|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val421Ile/c.1261G>A|1010|GART|protein_coding|CODING|NM_001136005.1|11|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val421Ile/c.1261G>A|1010|GART|protein_coding|CODING|NM_001136006.1|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8057,0.8703,0.7753,0.81,0.90,0.76,,0.000000(N),0.000(P),"2.14,2.14,2.14,2.14(T,T,T,T)",0.0000(T),0.051,-0.006732,6.03,6.03,-0.381000,1.107000,5.789000,0.182000,0.991000,1.000000,12.349
synonymous_variant,SON,SILENT,NM_138927.2:p.Ala212Ala/c.636A>G,gcA/gcG,LOW,COSM3758857(1),0.0111821,0.001,rs79746820,,,,,,chr21,34922173,34922173,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala212Ala/c.636A>G|2108|SON|protein_coding|CODING|NM_001291411.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala212Ala/c.636A>G|2303|SON|protein_coding|CODING|NM_032195.2|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala212Ala/c.636A>G|2426|SON|protein_coding|CODING|NM_138927.2|3|1),upstream_gene_variant(MODIFIER||795|||MIR6501||NON_CODING|NR_106756.1||1),intron_variant(MODIFIER|||c.244+3488A>G|454|SON|protein_coding|CODING|NM_001291412.1|2|1),non_coding_exon_variant(MODIFIER|||n.691A>G||SON||CODING|NR_103797.1|3|1)","H1ESC:H3K36me3,K562:PolII,HeLa-S3:H3K79me2,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.0072,0.0144,0.0338,0.02,0.00,0.03,,,,,,,,,,,,,,,,
missense_variant,SON,MISSENSE,NM_138927.2:p.Ser1202Leu/c.3605C>T,tCa/tTa,MODERATE,,1,1,rs13433428,,,-1.15(N),-0.9635(T),,chr21,34925142,34925142,C,T,hom,"missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1202Leu/c.3605C>T|2108|SON|protein_coding|CODING|NM_001291411.1|3|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1202Leu/c.3605C>T|2303|SON|protein_coding|CODING|NM_032195.2|3|1),missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser1202Leu/c.3605C>T|2426|SON|protein_coding|CODING|NM_138927.2|3|1),intron_variant(MODIFIER|||c.245-4320C>T|454|SON|protein_coding|CODING|NM_001291412.1|2|1),non_coding_exon_variant(MODIFIER|||n.3660C>T||SON||CODING|NR_103797.1|3|1)","H1ESC:H3K36me3,K562:PolII,HeLa-S3:H3K79me2,NHEK:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2,IMR90:H3K79me2",,,,1,1,1,1.00,1.00,1.00,,,0.000(P),,0.0000(T),.,-0.291708,5.12,5.12,-0.360000,0.905000,2.222000,0.660000,0.924000,1.000000,9.4492
missense_variant,SON,MISSENSE,NM_138927.2:p.Arg1575Cys/c.4723C>T,Cgc/Tgc,MODERATE,,0.716254,0.751,rs13047599,0.51(T),"0.0,0.0,0.0,0.0,0.0(B,B,B,B,B)",-1.355(N),-1.0773(T),,chr21,34926260,34926260,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1575Cys/c.4723C>T|2108|SON|protein_coding|CODING|NM_001291411.1|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1575Cys/c.4723C>T|2303|SON|protein_coding|CODING|NM_032195.2|3|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg1575Cys/c.4723C>T|2426|SON|protein_coding|CODING|NM_138927.2|3|1),intron_variant(MODIFIER|||c.245-3202C>T|454|SON|protein_coding|CODING|NM_001291412.1|2|1),non_coding_exon_variant(MODIFIER|||n.4778C>T||SON||CODING|NR_103797.1|3|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,HSMM:H3K79me2",,,,0.6616,0.683,0.672,0.70,0.77,0.67,,0.198651(N),1.000(P),"2.99,2.99,2.99,2.8(T,T,T,T)",0.0000(T),0.383,-2.749948,5.0,0.837,-0.332000,0.038000,-0.042000,0.338000,0.516000,0.076000,4.394
synonymous_variant,ITSN1,SILENT,NM_003024.2:p.Asp1348Asp/c.4044T>C,gaT/gaC,LOW,COSM4134908(1),0.831669,0.9425,rs9976801,,,,,,chr21,35237608,35237608,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp1348Asp/c.4044T>C|1721|ITSN1|protein_coding|CODING|NM_003024.2|32|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8333,0.6254,0.6978,0.76,0.92,0.68,,,0.000(P),,,.,1.157498,5.91,-0.181,-0.748000,-0.299000,-0.664000,0.882000,0.901000,0.062000,12.8122
synonymous_variant,ITSN1,SILENT,NM_003024.2:p.Arg1681Arg/c.5043T>C,cgT/cgC,LOW,COSM3758860(2),0.575679,0.7054,rs2073370,,,,,,chr21,35260481,35260481,T,C,het,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg1681Arg/c.5043T>C|1721|ITSN1|protein_coding|CODING|NM_003024.2|40|1),"GM12878:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.6554,0.487,0.5825,0.55,0.51,0.57,,,,,,,,,,,,,,,,
synonymous_variant,ATP5O,SILENT,NM_001697.2:p.Asn107Asn/c.321T>C,aaT/aaC,LOW,,0.702077,0.7391,rs4591,,,,-0.9849(T),,chr21,35281393,35281393,A,G,het,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn107Asn/c.321T>C|213|ATP5O|protein_coding|CODING|NM_001697.2|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.727,0.5591,0.6958,0.70,0.71,0.69,,,0.000(P),,0.0000(T),.,-0.339922,5.34,2.59,-0.128000,0.021000,2.282000,0.159000,0.996000,1.000000,9.5986
missense_variant,SLC5A3,MISSENSE,NM_006933.6:p.Thr50Ala/c.148A>G,Aca/Gca,MODERATE,,1,1,rs8129891,0.17(T),0.0(B),-1.575(N),-0.9025(T),,chr21,35467645,35467645,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr50Ala/c.148A>G|718|SLC5A3|protein_coding|CODING|NM_006933.6|2|1),intron_variant(MODIFIER|||c.45+21600A>G|125|MRPS6|protein_coding|CODING|NM_032476.3|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000001(N),0.000(P),-2.22(D),0.0000(T),0.07,2.065652,6.11,6.11,-0.166000,1.615000,5.337000,0.987000,0.954000,1.000000,14.4597
missense_variant,SLC5A3,MISSENSE,NM_006933.6:p.Gln566Lys/c.1696C>A,Caa/Aaa,MODERATE,,1,1,rs4817617,0.77(T),0.0(B),-0.345(N),-0.9723(T),,chr21,35469193,35469193,C,A,hom,"missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln566Lys/c.1696C>A|718|SLC5A3|protein_coding|CODING|NM_006933.6|2|1),intron_variant(MODIFIER|||c.45+23148C>A|125|MRPS6|protein_coding|CODING|NM_032476.3|1|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.391793(N),0.000(P),-0.01(T),0.0000(T),0.044,-0.027110,6.06,3.59,-0.269000,0.544000,2.403000,0.930000,0.908000,0.888000,8.165
missense_variant,KCNE1,MISSENSE,NM_000219.5:p.Ser38Gly/c.112A>G,Agt/Ggt,MODERATE,COSM4134909(1),0.673922,0.7083,rs1805127,0.4(T),0.0(B),0.11(N),-0.9573(T),,chr21,35821821,35821821,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_000219.5|4|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_001127668.3|3|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_001127669.3|3|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_001127670.3|2|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_001270402.2|3|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_001270403.2|3|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_001270404.2|2|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser38Gly/c.112A>G|129|KCNE1|protein_coding|CODING|NM_001270405.2|3|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,RCV000035351.1|RCV000119063.2,,0.6636,0.6138,0.6243,0.66,0.71,0.64,,0.773538(N),1.000(P),"-3.09,-3.09,-3.09,-3.09,-3.09,-3.09(D,D,D,D,D,D)",0.0000(T),0.236,1.386290,5.16,0.18,-0.880000,-0.024000,-0.889000,0.000000,0.000000,0.000000,5.8765
synonymous_variant,CLIC6,SILENT,NM_053277.1:p.Gln97Gln/c.291A>G,caA/caG,LOW,COSM4134910(1),1,1,rs7280973,,,,,,chr21,36041978,36041978,A,G,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln97Gln/c.291A>G|686|CLIC6|protein_coding|CODING|NM_053277.1|1|1),"HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,CLIC6,SILENT,NM_053277.1:p.Ala172Ala/c.516G>C,gcG/gcC,LOW,COSM4134913(1),1,1,rs9680380,,,,,,chr21,36042203,36042203,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala172Ala/c.516G>C|686|CLIC6|protein_coding|CODING|NM_053277.1|1|1),"HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,GM12878:ELF1,H1ESC:H3K4me3,NH-A:H3K27me3,GM06990:H3K4me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,GM12878:PolII,IMR90:H3K27me3,HSMM:H3K27me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,CLIC6,SILENT,NM_053277.1:p.Phe511Phe/c.1533C>T,ttC/ttT,LOW,COSM3758862(1),0.370008,0.1944,rs6517254,,,,,,chr21,36080290,36080290,C,T,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe511Phe/c.1533C>T|686|CLIC6|protein_coding|CODING|NM_053277.1|3|1),"HUVEC:H3K27me3,GM12878:BATF,GM12878:H3K27ac,GM12878:H3K36me3,CD4:H3K27ac,GM12878:EBF,K562:H3K27me3,GM12878:IRF4,GM12878:BCL11A,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM06990:DNase1,GM12878:Tcf12",,,,0.2372,0.281,0.3708,0.46,0.61,0.39,,,,,,,,,,,,,,,,
missense_variant,CBR3,MISSENSE,NM_001236.3:p.Cys4Tyr/c.11G>A,tGc/tAc,MODERATE,COSM444425(8),0.366813,0.4335,rs8133052,0.3(T),0.002(B),-0.205(N),-0.9305(T),,chr21,37507501,37507501,G,A,het,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys4Tyr/c.11G>A|277|CBR3|protein_coding|CODING|NM_001236.3|1|1),intron_variant(MODIFIER|||n.193-2129C>T||CBR3-AS1||NON_CODING|NR_038893.1|2|1),intron_variant(MODIFIER|||n.193-1442C>T||CBR3-AS1||NON_CODING|NR_038892.1|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HeLa-S3:PolII,K562:H3K27me3,IMR90:H3K27ac,HepG2:H3K4me3,CD4:PolII,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.2904,0.4856,0.4523,0.37,0.27,0.42,,0.136957(N),0.020(P),-0.37(T),0.0000(T),0.085,1.572033,5.32,2.52,0.655000,0.375000,-0.042000,0.995000,1.000000,0.244000,8.715
synonymous_variant,CBR3,SILENT,NM_001236.3:p.Asn85Asn/c.255C>T,aaC/aaT,LOW,,0.820288,0.8403,rs881711,,,,,,chr21,37507745,37507745,C,T,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn85Asn/c.255C>T|277|CBR3|protein_coding|CODING|NM_001236.3|1|1),intron_variant(MODIFIER|||n.193-2373G>A||CBR3-AS1||NON_CODING|NR_038893.1|2|1),intron_variant(MODIFIER|||n.193-1686G>A||CBR3-AS1||NON_CODING|NR_038892.1|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,HeLa-S3:DNase1,HSMM:H2AZ,GM06990:H3K27me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HeLa-S3:PolII,K562:H3K27me3,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HepG2:H3K4me3,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.8558,0.7839,0.8748,0.85,0.78,0.88,,,,,,,,,,,,,,,,
synonymous_variant,CBR3,SILENT,NM_001236.3:p.Val93Val/c.279C>T,gtC/gtT,LOW,,0.308506,0.4276,rs881712,,,,,,chr21,37507769,37507769,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val93Val/c.279C>T|277|CBR3|protein_coding|CODING|NM_001236.3|1|1),intron_variant(MODIFIER|||n.193-2397G>A||CBR3-AS1||NON_CODING|NR_038893.1|2|1),intron_variant(MODIFIER|||n.193-1710G>A||CBR3-AS1||NON_CODING|NR_038892.1|2|1)","NHEK:H3K9ac,H1ESC:H3K36me3,HeLa-S3:DNase1,HSMM:H2AZ,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HeLa-S3:PolII,K562:H3K27me3,IMR90:H3K27ac,HeLa-S3:Ap2alpha,HepG2:H3K4me3,HeLa-S3:Ap2gamma,NHEK:H3K4me2,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,GM12878:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.2843,0.4524,0.4304,0.34,0.14,0.44,,,,,,,,,,,,,,,,
missense_variant,CBR3,MISSENSE,NM_001236.3:p.Val244Met/c.730G>A,Gtg/Atg,MODERATE,COSM3758864(2),0.427117,0.4048,rs1056892,0.05(D),0.141(B),2.185(M),-0.9038(T),,chr21,37518706,37518706,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val244Met/c.730G>A|277|CBR3|protein_coding|CODING|NM_001236.3|3|1),intron_variant(MODIFIER|||n.93-53C>T||CBR3-AS1||NON_CODING|NR_038892.1|1|1),intron_variant(MODIFIER|||n.93-53C>T||CBR3-AS1||NON_CODING|NR_038893.1|1|1),intron_variant(MODIFIER|||n.93-53C>T||CBR3-AS1||NON_CODING|NR_038894.1|1|1)","CD4:H4K91ac,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H2BK120ac",,,,0.5317,0.2608,0.3539,0.40,0.47,0.36,,0.000805(D),0.898(P),2.87(T),0.0000(T),0.063,2.340505,4.8,0.552,0.655000,0.567000,2.055000,0.926000,0.415000,0.854000,11.3336
missense_variant,DOPEY2,MISSENSE,NM_005128.2:p.Cys1118Gly/c.3352T>G,Tgc/Ggc,MODERATE,COSM4134917(1),0.949281,0.999,rs4817788,1(T),"0.0,0.0(B,B)",-1.735(N),-1.0013(T),,chr21,37617630,37617630,T,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Ggc|p.Cys1118Gly/c.3352T>G|2298|DOPEY2|protein_coding|CODING|NM_005128.2|19|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9673,0.9236,0.8449,0.90,0.97,0.86,,0.006509(N),1.000(P),2.35(T),0.0000(T),0.041,-2.104830,5.3,2.47,-0.127000,0.059000,2.596000,0.124000,0.037000,0.910000,4.6088
missense_variant,DOPEY2,MISSENSE,NM_005128.2:p.Gly2139Glu/c.6416G>A,gGg/gAg,MODERATE,COSM149222(2),0.144569,0.126,rs3827183,0.65(T),"0.109,0.051(B,B)",1.78(L),-1.0688(T),,chr21,37661405,37661405,G,A,het,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly2139Glu/c.6416G>A|2298|DOPEY2|protein_coding|CODING|NM_005128.2|35|1),"H1ESC:H3K36me3,CD4:H4K91ac,CD4:DNase1,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K4me2,HSMM:H3K36me3,IMR90:DNase1,CD4:H3K27ac,CD4:H3K36ac,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H2BK120ac,GM12878:DNase1,GM12878:H3K4me2,GM06990:DNase1",,,,0.2505,0.111,0.1223,0.12,0.12,0.12,,0.040199(N),0.418(P),0.99(T),0.0011(T),0.058,2.819449,4.81,2.87,0.563000,1.387000,2.524000,0.733000,0.199000,0.515000,9.9191
synonymous_variant,MORC3,SILENT,NM_015358.2:p.Ile9Ile/c.27A>T,atA/atT,LOW,,0.226438,0.4871,rs2236433,,,,,,chr21,37692589,37692589,A,T,het,synonymous_variant(LOW|SILENT|atA/atT|p.Ile9Ile/c.27A>T|939|MORC3|protein_coding|CODING|NM_015358.2|1|1),"H1ESC:PolII,CD4:CBP,HepG2:Gabp,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,GM12878:Gabp,HSMM:H3K27ac,HUVEC:PolII,HUVEC:H3K9ac,CD4:MOF,H1ESC:SP1,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,H1ESC:Gabp,HepG2:PolII,GM12878:ELF1,HepG2:SP1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:Gabp,H1ESC:Yy1,HeLa-S3:PolII,GM12878:TAF1,HeLa-S3:Ap2alpha,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HeLa-S3:Ap2gamma,CD4:PolII,HepG2:TAF1,H1ESC:Jund,CD4:HDAC1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,CD4:p300,HepG2:H3K27me3,GM12878:DNase1,K562:HEY1,HepG2:Yy1,GM12878:PU1,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.2648,0.33,0.1372,0.11,0.04,0.14,,,,,,,,,,,,,,,,
synonymous_variant,MORC3,SILENT,NM_015358.2:p.Leu755Leu/c.2263T>C,Tta/Cta,LOW,,0.043131,0,rs61739929,,,,,,chr21,37741929,37741929,T,C,het,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu755Leu/c.2263T>C|939|MORC3|protein_coding|CODING|NM_015358.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,GM06990:DNase1",,,,0.0123,0.0562,0.0368,0.06,0.10,0.04,,,,,,,,,,,,,,,,
missense_variant,SIM2,MISSENSE,NM_005069.3:p.Leu483Met/c.1447C>A,Ctg/Atg,MODERATE,COSM4134922(1),0.171925,0.0427,rs2073601,0.22(T),"0.908,0.983(P,D)",1.845(L),-0.9963(T),,chr21,38117308,38117308,C,A,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu483Met/c.1447C>A|667|SIM2|protein_coding|CODING|NM_005069.3|10|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu483Met/c.1447C>A|570|SIM2|protein_coding|CODING|NM_009586.2|10|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K36me3",,,,0.3088,0.1729,0.326,0.27,0.10,0.36,,0.000004(N),0.733(P),"1.21,1.21(T,T)",0.0000(T),0.266,3.420969,4.46,3.55,0.558000,2.194000,0.413000,0.994000,1.000000,0.123000,11.0463
synonymous_variant,HLCS,SILENT,NM_000411.6:p.Ser278Ser/c.834C>T,agC/agT,LOW,COSM4002018(1),0.0712859,0.0417,rs1065758,,,,,,chr21,38308911,38308911,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser278Ser/c.834C>T|726|HLCS|protein_coding|CODING|NM_000411.6|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser278Ser/c.834C>T|726|HLCS|protein_coding|CODING|NM_001242784.1|5|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser278Ser/c.834C>T|726|HLCS|protein_coding|CODING|NM_001242785.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000078724.3,,0.045,0.0821,0.172,0.13,0.05,0.16,,,,,,,,,,,,,,,,
missense_variant,PIGP,MISSENSE,NM_153681.2:p.Ala9Thr/c.25G>A,Gcg/Acg,MODERATE,,1,1,rs2507733,1(T),,,-0.9654(T),,chr21,38444863,38444863,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala9Thr/c.25G>A|158|PIGP|protein_coding|CODING|NM_153681.2|1|1),upstream_gene_variant(MODIFIER||708||2025|TTC3|protein_coding|CODING|NM_001001894.1||1),intron_variant(MODIFIER|||c.-22-26G>A|134|PIGP|protein_coding|CODING|NM_153682.2|1|1),intron_variant(MODIFIER|||n.160-26G>A||PIGP||CODING|NR_028352.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HeLa-S3:E2F1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,CD4:H2BK12ac,GM12878:H2AZ,IMR90:H4K8ac",,,,1,1,1,,,,,0.427998(N),1.000(P),1.84(T),0.0000(T),0.05,0.060104,4.79,0.406,-0.360000,0.194000,0.654000,0.002000,0.006000,0.000000,1.0705
missense_variant,PIGP,MISSENSE,NM_153681.2:p.Pro3Ser/c.7C>T,Cca/Tca,MODERATE,,0.208866,0.0823,rs73200245,0.27(T),0.0(B),-0.345(N),-0.9409(T),,chr21,38444881,38444881,G,A,het,"missense_variant(MODERATE|MISSENSE|Cca/Tca|p.Pro3Ser/c.7C>T|158|PIGP|protein_coding|CODING|NM_153681.2|1|1),upstream_gene_variant(MODIFIER||690||2025|TTC3|protein_coding|CODING|NM_001001894.1||1),intron_variant(MODIFIER|||c.-22-44C>T|134|PIGP|protein_coding|CODING|NM_153682.2|1|1),intron_variant(MODIFIER|||n.160-44C>T||PIGP||CODING|NR_028352.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,CD4:H4K8ac,H1ESC:H3K27ac,HepG2:H3K27ac,HeLa-S3:H3K4me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,K562:Yy1,CD4:H4K5ac,HeLa-S3:Ini1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,HepG2:TAF1,IMR90:H3K18ac,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,CD4:H2BK120ac,HeLa-S3:E2F1,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,CD4:H2BK12ac,GM12878:H2AZ,IMR90:H4K8ac,GM12878:Sin3Ak20",,,,0.0644,0.3573,0.1521,0.22,0.34,0.16,,0.000039(N),1.000(P),1.91(T),0.0000(T),0.118,1.601930,4.39,-4.09,-0.457000,-0.353000,-0.903000,0.004000,0.000000,0.000000,2.1501
synonymous_variant,TTC3,SILENT,NM_001001894.1:p.Val585Val/c.1755A>G,gtA/gtG,LOW,COSM4002019(1),0.591853,0.6032,rs1133001,,,,,,chr21,38512956,38512956,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val585Val/c.1755A>G|2025|TTC3|protein_coding|CODING|NM_001001894.1|20|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val585Val/c.1755A>G|2025|TTC3|protein_coding|CODING|NM_003316.3|20|1)","NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.6145,0.6282,0.4642,0.51,0.63,0.45,,,,,,,,,,,,,,,,
missense_variant,TTC3,MISSENSE,NM_001001894.1:p.Met840Thr/c.2519T>C,aTg/aCg,MODERATE,COSM3758869(1),0.627995,0.621,rs1053808,,,-0.69(N),-0.9282(T),,chr21,38525356,38525356,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met840Thr/c.2519T>C|2025|TTC3|protein_coding|CODING|NM_001001894.1|27|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met840Thr/c.2519T>C|2025|TTC3|protein_coding|CODING|NM_003316.3|27|1)","NH-A:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6258,0.6628,0.505,0.55,0.69,0.49,,,0.000(P),,0.0000(T),.,-2.135049,5.31,-0.107,-1.123000,-0.472000,0.014000,0.231000,0.888000,0.009000,12.196
missense_variant,TTC3,MISSENSE,NM_001001894.1:p.Asp1751His/c.5251G>C,Gac/Cac,MODERATE,COSM3758871(1),0.738419,0.8492,rs1053966,0.39(T),0.0(B),-1.59(N),-1.0165(T),,chr21,38568009,38568009,G,C,het,"missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp1751His/c.5251G>C|2025|TTC3|protein_coding|CODING|NM_001001894.1|42|1),missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp1751His/c.5251G>C|2025|TTC3|protein_coding|CODING|NM_003316.3|42|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.638,0.7334,0.5129,0.61,0.84,0.49,,0.298665(N),1.000(P),"3.13,3.13,3.13(T,T,T)",0.0000(T),0.322,-0.966110,4.72,2.82,-0.215000,0.145000,-2.243000,0.019000,0.000000,0.000000,7.6428
synonymous_variant,TTC3,SILENT,NM_001001894.1:p.His1850His/c.5550C>T,caC/caT,LOW,COSM3758872(1),0.592053,0.6032,rs6579,,,,-0.9432(T),,chr21,38568308,38568308,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His1850His/c.5550C>T|2025|TTC3|protein_coding|CODING|NM_001001894.1|42|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1850His/c.5550C>T|2025|TTC3|protein_coding|CODING|NM_003316.3|42|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6155,0.6282,0.4642,0.51,0.63,0.45,,,0.000(P),,0.0000(T),.,0.905837,4.34,1.26,0.467000,0.337000,0.114000,0.859000,0.614000,0.995000,5.8525
synonymous_variant,KCNJ6,SILENT,NM_002240.3:p.Asp344Asp/c.1032C>T,gaC/gaT,LOW,,0.773962,0.8671,rs702859,,,,,,chr21,38997701,38997701,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp344Asp/c.1032C>T|423|KCNJ6|protein_coding|CODING|NM_002240.3|4|1),"HSMM:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7065,0.8127,0.666,0.73,0.81,0.69,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ6,SILENT,NM_002240.3:p.Pro165Pro/c.495A>G,ccA/ccG,LOW,,0.823283,0.6389,rs2070995,,,,,,chr21,39086965,39086965,T,C,het,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro165Pro/c.495A>G|423|KCNJ6|protein_coding|CODING|NM_002240.3|3|1),"HUVEC:H3K27me3,GM12878:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.8231,0.804,0.7982,0.84,0.95,0.79,,,,,,,,,,,,,,,,
missense_variant,KCNJ15,MISSENSE,NM_001276435.1:p.Gly98Asp/c.293G>A,gGt/gAt,MODERATE,COSM3758874(2),0.288738,0.253,rs2230033,,0.079(B),-0.405(N),-0.9426(T),,chr21,39671476,39671476,G,A,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_001276435.1|5|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_001276436.1|5|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_001276437.1|4|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_001276438.1|3|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_001276439.1|4|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_002243.4|4|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_170736.2|3|1),missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly98Asp/c.293G>A|375|KCNJ15|protein_coding|CODING|NM_170737.2|3|1)","GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.3292,0.4625,0.497,0.40,0.12,0.55,,0.272284(U),1.000(P),"-3.27,-3.27,-3.27,-3.27,-3.27,-3.27,-3.27,-3.27,-3.27(D,D,D,D,D,D,D,D,D)",0.0000(T),0.39,-1.728508,5.13,4.22,0.655000,1.249000,1.174000,0.019000,0.005000,0.001000,2.9987
synonymous_variant,ETS2,SILENT,NM_001256295.1:p.Thr412Thr/c.1236T>G,acT/acG,LOW,COSM444459(4),0.58107,0.4563,rs457705,,,,,,chr21,40191431,40191431,T,G,hom,"synonymous_variant(LOW|SILENT|acT/acG|p.Thr412Thr/c.1236T>G|609|ETS2|protein_coding|CODING|NM_001256295.1|9|1),synonymous_variant(LOW|SILENT|acT/acG|p.Thr272Thr/c.816T>G|469|ETS2|protein_coding|CODING|NM_005239.5|8|1)","H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H2BK12ac,IMR90:H3K4me1,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4724,0.5778,0.838,0.77,0.62,0.85,,,,,,,,,,,,,,,,
synonymous_variant,ETS2,SILENT,NM_001256295.1:p.Pro481Pro/c.1443A>G,ccA/ccG,LOW,,0.580671,0.4563,rs461155,,,,,,chr21,40191638,40191638,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro481Pro/c.1443A>G|609|ETS2|protein_coding|CODING|NM_001256295.1|9|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro341Pro/c.1023A>G|469|ETS2|protein_coding|CODING|NM_005239.5|8|1)","NHEK:H3K27ac,H1ESC:H3K36me3,NHEK:PolII,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H2BK12ac,IMR90:H3K4me1,IMR90:H3K36me3,CD4:H3K36me3,IMR90:H3K27ac,HeLa-S3:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.4724,0.5778,0.838,0.77,0.62,0.85,,,,,,,,,,,,,,,,
synonymous_variant,PSMG1,SILENT,NM_003720.3:p.Pro229Pro/c.687A>G,ccA/ccG,LOW,COSM3758875(2),0.216254,0.0446,rs14194,,,,-0.9334(T),,chr21,40549466,40549466,T,C,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro224Pro/c.672A>G|283|PSMG1|protein_coding|CODING|NM_001261824.1|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro229Pro/c.687A>G|288|PSMG1|protein_coding|CODING|NM_003720.3|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro208Pro/c.624A>G|267|PSMG1|protein_coding|CODING|NM_203433.2|5|1),non_coding_exon_variant(MODIFIER|||n.709A>G||PSMG1||CODING|NR_049728.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1769,0.2248,0.3171,0.33,0.30,0.35,,,0.000(P),,0.0000(T),.,0.766614,5.73,-4.69,-0.646000,-1.025000,-0.059000,0.765000,0.194000,0.916000,0.7766
missense_variant,BRWD1,MISSENSE,NM_018963.4:p.Leu1699Pro/c.5096T>C,cTa/cCa,MODERATE,,0.852835,0.6091,rs1041439,0.39(T),"0.0,0.0(B,B)",-0.55(N),-1.0361(T),,chr21,40571246,40571246,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu1699Pro/c.5096T>C|2320|BRWD1|protein_coding|CODING|NM_018963.4|40|1),missense_variant(MODERATE|MISSENSE|cTa/cCa|p.Leu1699Pro/c.5096T>C|2269|BRWD1|protein_coding|CODING|NM_033656.3|40|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8139,0.9337,0.9195,0.95,0.97,0.93,,0.541469(N),1.000(P),"0.63,0.66,0.73(T,T,T)",0.0000(T),0.034,-2.806355,5.51,1.48,-0.710000,0.052000,-1.370000,0.000000,0.000000,0.000000,4.679
missense_variant,BRWD1,MISSENSE,NM_018963.4:p.Ser1511Pro/c.4531T>C,Tca/Cca,MODERATE,,0.61861,0.5734,rs2183573,0(D),,1.955(M),-0.9127(T),,chr21,40574305,40574305,A,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser1511Pro/c.4531T>C|2320|BRWD1|protein_coding|CODING|NM_018963.4|38|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser1511Pro/c.4531T>C|2269|BRWD1|protein_coding|CODING|NM_033656.3|38|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.638,0.7089,0.6034,0.60,0.61,0.59,,,0.000(P),,0.0000(T),.,1.798112,5.27,5.27,0.533000,2.006000,1.873000,0.450000,0.083000,0.710000,13.4708
synonymous_variant,BRWD1,SILENT,NM_018963.4:p.Arg1298Arg/c.3894G>A,agG/agA,LOW,,0.851637,0.6091,rs6517529,,,,-1.0060(T),,chr21,40584598,40584598,C,T,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg1298Arg/c.3894G>A|2320|BRWD1|protein_coding|CODING|NM_018963.4|34|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg1298Arg/c.3894G>A|2269|BRWD1|protein_coding|CODING|NM_033656.3|34|1)","HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.8139,0.9294,0.9195,0.95,0.97,0.93,,,0.000(P),,0.0000(T),.,0.840296,5.47,-1.27,-0.982000,-0.704000,-0.167000,0.894000,0.952000,0.983000,10.7025
synonymous_variant,BRWD1,SILENT,NM_018963.4:p.Tyr288Tyr/c.864C>T,taC/taT,LOW,COSM444480(2),0.215056,0.0367,rs2836972,,,,,,chr21,40652142,40652142,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr288Tyr/c.864C>T|2320|BRWD1|protein_coding|CODING|NM_018963.4|9|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr288Tyr/c.864C>T|2269|BRWD1|protein_coding|CODING|NM_033656.3|9|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1769,0.2176,0.3171,0.33,0.30,0.35,,,,,,,,,,,,,,,,
missense_variant,HMGN1,MISSENSE,NM_004965.6:p.Ala9Thr/c.25G>A,Gcc/Acc,MODERATE,COSM4134928(1),0.0591054,0.0149,rs34613278,0.75(T),0.004(B),0.96(L),-1.1342(T),,chr21,40720494,40720494,C,T,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala9Thr/c.25G>A|100|HMGN1|protein_coding|CODING|NM_004965.6|2|1),"K562:ZBTB7A,H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,K562:H3K36me3,HUVEC:H3K9ac,HepG2:H3K27ac,H1ESC:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,H1ESC:H4K5ac,NH-A:H3K4me3,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,K562:E2F4,GM12878:Sin3Ak20",,,,0.0613,0.0706,0.0636,0.08,0.08,0.07,,,1.000(D),,0.0056(T),0.05,1.621432,4.13,3.24,0.655000,0.711000,2.858000,0.132000,0.344000,0.983000,10.6698
missense_variant,LCA5L,MISSENSE,NM_152505.3:p.Gly17Ser/c.49G>A,Ggc/Agc,MODERATE,COSM3758876(1),0.21885,0.0268,rs2837029,1(T),"0.001,0.001(B,B)",-0.255(N),-1.0739(T),,chr21,40800371,40800371,C,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly17Ser/c.49G>A|670|LCA5L|protein_coding|CODING|NM_152505.3|4|1),,,,,0.18,0.1628,0.2157,0.26,0.40,0.20,,0.650621(N),1.000(P),"0.68,0.68,0.68,1.11,1.12,1.12,1.12,1.12,1.14,1.15,-1.13(T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.298,0.668727,5.65,-3.13,-0.254000,-0.792000,-1.232000,0.003000,0.000000,0.000000,3.4211
missense_variant,SH3BGR,MISSENSE,NM_007341.2:p.Asp23Glu/c.69C>G,gaC/gaG,MODERATE,COSM3758878(2),0.166334,0.0268,rs11575939,1(T),0.0(B),0(N),-1.0372(T),,chr21,40823902,40823902,C,G,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp23Glu/c.69C>G|239|SH3BGR|protein_coding|CODING|NM_007341.2|1|1),intron_variant(MODIFIER|||c.-100+6047C>G|128|SH3BGR|protein_coding|CODING|NM_001001713.1|1|1)","K562:H3K4me3,K562:PolII,HUVEC:H3K27me3,K562:H3K27ac,HMEC:H3K4me2,K562:Cfos,HSMM:DNase1,K562:H3K9ac,HMEC:DNase1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,K562:DNase1",,,,0.1748,0.1369,0.2058,0.21,0.23,0.19,,0.321084(N),1.000(P),1.63(T),0.0000(T),0.007,-1.965622,5.14,-0.25,-0.824000,-0.244000,0.805000,0.005000,0.000000,0.001000,2.843
missense_variant,SH3BGR,MISSENSE,NM_007341.2:p.Asp50Asn/c.148G>A,Gac/Aac,MODERATE,COSM4134931(1),0.989816,1,rs386603257,1(T),0.0(B),0(N),-0.9720(T),,chr21,40823981,40823981,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp50Asn/c.148G>A|239|SH3BGR|protein_coding|CODING|NM_007341.2|1|1),intron_variant(MODIFIER|||c.-100+6126G>A|128|SH3BGR|protein_coding|CODING|NM_001001713.1|1|1)","K562:H3K4me3,K562:PolII,HUVEC:H3K27me3,K562:H3K27ac,HMEC:H3K4me2,K562:H3K9ac,HMEC:DNase1,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,K562:H2AZ,K562:DNase1",,,,0.9959,0.9813,0.9682,0.98,0.99,0.97,,0.033745(N),0.981(P),1.56(T),0.0000(T),0.051,0.073497,5.42,-4.92,-0.254000,-1.002000,-1.488000,0.931000,0.001000,0.000000,4.4747
missense_variant,B3GALT5,MISSENSE,NM_033172.2:p.Met89Thr/c.266T>C,aTg/aCg,MODERATE,COSM4002023(1),0.653355,0.6508,rs3746887,0.6(T),0.002(B),-0.675(N),-0.9926(T),,chr21,41032740,41032740,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met85Thr/c.254T>C|310|B3GALT5|protein_coding|CODING|NM_001278650.1|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met85Thr/c.254T>C|310|B3GALT5|protein_coding|CODING|NM_006057.2|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met85Thr/c.254T>C|310|B3GALT5|protein_coding|CODING|NM_033170.2|3|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met85Thr/c.254T>C|310|B3GALT5|protein_coding|CODING|NM_033171.2|4|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met89Thr/c.266T>C|314|B3GALT5|protein_coding|CODING|NM_033172.2|3|1)","H1ESC:H3K36me3,HSMM:H3K27ac,GM12878:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.7975,0.7233,0.8151,0.69,0.44,0.81,,0.012860(N),1.000(P),"1.08,1.08,1.08,1.08(T,T,T,T)",0.0000(T),0.027,-0.498176,5.89,-5.7,-0.960000,-1.037000,-3.510000,0.006000,0.000000,0.000000,2.6827
synonymous_variant,B3GALT5,SILENT,NM_033172.2:p.Thr110Thr/c.330G>A,acG/acA,LOW,COSM4002025(1),0.629393,0.6468,rs734413,,,,,,chr21,41032804,41032804,G,A,hom,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr106Thr/c.318G>A|310|B3GALT5|protein_coding|CODING|NM_001278650.1|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr106Thr/c.318G>A|310|B3GALT5|protein_coding|CODING|NM_006057.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr106Thr/c.318G>A|310|B3GALT5|protein_coding|CODING|NM_033170.2|3|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr106Thr/c.318G>A|310|B3GALT5|protein_coding|CODING|NM_033171.2|4|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr110Thr/c.330G>A|314|B3GALT5|protein_coding|CODING|NM_033172.2|3|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:DNase1,H1ESC:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:H3K27me3,HeLa-S3:H3K27me3",,,,0.7965,0.7147,0.8151,0.66,0.38,0.81,,,,,,,,,,,,,,,,
missense_variant,IGSF5,MISSENSE,NM_001080444.1:p.Arg49Thr/c.146G>C,aGa/aCa,MODERATE,COSM4134935(1),0.659545,0.7292,rs2205204,1(T),0.0(B),-2.255(N),-0.9281(T),,chr21,41137507,41137507,G,C,het,missense_variant(MODERATE|MISSENSE|aGa/aCa|p.Arg49Thr/c.146G>C|407|IGSF5|protein_coding|CODING|NM_001080444.1|3|1),,,,,0.7546,0.7507,0.7396,0.65,0.46,0.74,,0.000002(N),1.000(P),-0.16(T),0.0000(T),0.083,-2.009370,4.05,4.05,-0.127000,1.026000,2.825000,0.001000,0.007000,0.997000,12.9111
missense_variant,DSCAM,MISSENSE,NM_001389.3:p.Asp232Glu/c.696C>G,gaC/gaG,MODERATE,,0.142572,0.2093,rs2297270,1(T),0.001(B),-0.92(N),-1.0786(T),,chr21,41725630,41725630,G,C,het,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp232Glu/c.696C>G|1994|DSCAM|protein_coding|CODING|NM_001271534.1|5|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp232Glu/c.696C>G|2012|DSCAM|protein_coding|CODING|NM_001389.3|5|1),non_coding_exon_variant(MODIFIER|||n.1148C>G||DSCAM||CODING|NR_073202.1|5|1)",NHEK:H3K36me3,,,,0.0511,0.1499,0.0755,0.11,0.17,0.08,,0.000058(D),0.998(P),-0.18(T),0.0000(T),0.013,-0.488713,5.31,-10.1,-0.806000,-1.752000,-0.492000,0.975000,0.690000,0.193000,12.5074
synonymous_variant,BACE2,SILENT,NM_012105.4:p.Asp364Asp/c.1092C>T,gaC/gaT,LOW,COSM3758881(1),0.41893,0.6865,rs1046210,,,,,,chr21,42622786,42622786,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp364Asp/c.1092C>T|518|BACE2|protein_coding|CODING|NM_012105.4|7|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp364Asp/c.1092C>T|396|BACE2|protein_coding|CODING|NM_138992.2|7|1),intron_variant(MODIFIER|||c.984+4796C>T|468|BACE2|protein_coding|CODING|NM_138991.2|6|1)","H1ESC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HUVEC:H3K27ac,HepG2:H3K27me3",,,,0.5603,0.5403,0.3797,0.30,0.13,0.39,,,,,,,,,,,,,,,,
synonymous_variant,MX1,SILENT,NM_001144925.2:p.Ile223Ile/c.669C>T,atC/atT,LOW,COSM3758882(1),0.354832,0.1062,rs467960,,,,,,chr21,42812891,42812891,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile223Ile/c.669C>T|662|MX1|protein_coding|CODING|NM_001144925.2|11|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile223Ile/c.669C>T|662|MX1|protein_coding|CODING|NM_001178046.2|7|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile223Ile/c.669C>T|508|MX1|protein_coding|CODING|NM_001282920.1|5|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile223Ile/c.669C>T|662|MX1|protein_coding|CODING|NM_002462.4|9|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3589,0.4424,0.5706,0.50,0.35,0.58,,,,,,,,,,,,,,,,
missense_variant,MX1,MISSENSE,NM_001144925.2:p.Val379Ile/c.1135G>A,Gtt/Att,MODERATE,,0.461861,0.2857,rs469390,1(T),0.0(B),-1.555(N),-0.9216(T),,chr21,42817930,42817930,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val379Ile/c.1135G>A|662|MX1|protein_coding|CODING|NM_001144925.2|15|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val379Ile/c.1135G>A|662|MX1|protein_coding|CODING|NM_001178046.2|11|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val379Ile/c.1135G>A|508|MX1|protein_coding|CODING|NM_001282920.1|9|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val379Ile/c.1135G>A|662|MX1|protein_coding|CODING|NM_002462.4|13|1)","GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.546,0.4496,0.5885,0.54,0.45,0.59,,0.001046(N),0.632(P),"-0.39,-0.39,-0.39,-0.39(T,T,T,T)",0.0000(T),0.064,-1.128583,4.72,2.29,-0.285000,0.350000,0.915000,0.352000,0.912000,1.000000,6.626
synonymous_variant,MX1,SILENT,NM_001144925.2:p.Arg441Arg/c.1323T>C,cgT/cgC,LOW,COSM3758883(1),0.33766,0.2381,rs2070229,,,,,,chr21,42821113,42821113,T,C,het,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg441Arg/c.1323T>C|662|MX1|protein_coding|CODING|NM_001144925.2|16|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg441Arg/c.1323T>C|662|MX1|protein_coding|CODING|NM_001178046.2|12|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg441Arg/c.1323T>C|662|MX1|protein_coding|CODING|NM_002462.4|14|1),intron_variant(MODIFIER|||c.1273+3045T>C|508|MX1|protein_coding|CODING|NM_001282920.1|9|1)","GM12878:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.2423,0.2608,0.2952,0.37,0.51,0.30,,,,,,,,,,,,,,,,
synonymous_variant,MX1,SILENT,NM_001144925.2:p.Gln565Gln/c.1695G>A,caG/caA,LOW,,0.266973,0.006,rs469304,,,,,,chr21,42824733,42824733,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln565Gln/c.1695G>A|662|MX1|protein_coding|CODING|NM_001144925.2|18|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln565Gln/c.1695G>A|662|MX1|protein_coding|CODING|NM_001178046.2|14|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln565Gln/c.1695G>A|662|MX1|protein_coding|CODING|NM_002462.4|16|1),intron_variant(MODIFIER|||c.1274-5722G>A|508|MX1|protein_coding|CODING|NM_001282920.1|9|1)","GM12878:H3K36me3,CD4:H3K36me3,GM12878:PolII,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3671,0.3127,0.5348,0.44,0.22,0.55,,,,,,,,,,,,,,,,
synonymous_variant,TMPRSS2,SILENT,NM_001135099.1:p.Gly296Gly/c.888C>T,ggC/ggT,LOW,COSM444509(2),0.209465,0.249,rs2298659,,,,,,chr21,42845374,42845374,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly296Gly/c.888C>T|529|TMPRSS2|protein_coding|CODING|NM_001135099.1|9|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly259Gly/c.777C>T|492|TMPRSS2|protein_coding|CODING|NM_005656.3|9|1)","H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.1892,0.2176,0.2296,0.21,0.19,0.22,,,,,,,,,,,,,,,,
synonymous_variant,TMPRSS2,SILENT,NM_001135099.1:p.Ile293Ile/c.879T>C,atT/atC,LOW,COSM1483964(3),0.366214,0.121,rs17854725,,,,,,chr21,42845383,42845383,A,G,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile293Ile/c.879T>C|529|TMPRSS2|protein_coding|CODING|NM_001135099.1|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile256Ile/c.768T>C|492|TMPRSS2|protein_coding|CODING|NM_005656.3|9|1)","H1ESC:H3K36me3,NHEK:H3K27me3",,,,0.4438,0.4107,0.5417,0.49,0.39,0.54,,,,,,,,,,,,,,,,
missense_variant,TMPRSS2,MISSENSE,NM_001135099.1:p.Val197Met/c.589G>A,Gtg/Atg,MODERATE,COSM3758884(1),0.261382,0.3621,rs12329760,0.02(D),"0.938,0.937(D,D)",2.755(M),-1.0612(T),,chr21,42852497,42852497,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val197Met/c.589G>A|529|TMPRSS2|protein_coding|CODING|NM_001135099.1|6|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val160Met/c.478G>A|492|TMPRSS2|protein_coding|CODING|NM_005656.3|6|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.226,0.1542,0.2356,0.24,0.29,0.22,,0.022371(N),0.077(P),"-0.75,-0.75,-0.75,-0.75,-0.75(T,T,T,T,T)",0.0000(T),0.274,3.615593,5.12,4.23,0.561000,2.392000,1.578000,0.756000,0.999000,1.000000,9.9163
missense_variant,RIPK4,MISSENSE,NM_020639.2:p.Met666Val/c.1996A>G,Atg/Gtg,MODERATE,COSM4134938(1),0.956869,0.9107,rs3746891,0.59(T),0.0(B),-0.48(N),-1.0139(T),,chr21,43161357,43161357,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met666Val/c.1996A>G|784|RIPK4|protein_coding|CODING|NM_020639.2|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.8947,1,0.9791,0.98,0.99,0.97,,0.238245(N),1.000(P),"-0.03,-0.03,-0.03,-0.03(T,T,T,T)",0.0000(T),0.034,-0.283167,4.52,-0.0937,-0.215000,0.005000,0.638000,0.117000,0.116000,0.000000,2.795
synonymous_variant,RIPK4,SILENT,NM_020639.2:p.Asp516Asp/c.1548C>T,gaC/gaT,LOW,COSM4002031(2),0.53095,0.6071,rs2838113,,,,,,chr21,43161805,43161805,G,A,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp516Asp/c.1548C>T|784|RIPK4|protein_coding|CODING|NM_020639.2|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.6687,0.5764,0.659,0.51,0.31,0.62,,,,,,,,,,,,,,,,
synonymous_variant,RIPK4,SILENT,NM_020639.2:p.Ala210Ala/c.630G>A,gcG/gcA,LOW,,0.0710863,0,rs2838114,,,,,,chr21,43169357,43169357,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala210Ala/c.630G>A|784|RIPK4|protein_coding|CODING|NM_020639.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.0399,0.0663,0.0915,,,,,,,,,,,,,,,,,,,
synonymous_variant,RIPK4,SILENT,NM_020639.2:p.Ser53Ser/c.159G>A,tcG/tcA,LOW,,0.0996406,0,rs6586238,,,,,,chr21,43187043,43187043,C,T,het,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser53Ser/c.159G>A|784|RIPK4|protein_coding|CODING|NM_020639.2|1|1),"NHEK:H3K9ac,NHEK:H3K27ac,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,HepG2:Sin3Ak20,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HeLa-S3:PolII,K562:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.0399,0.0836,0.1322,0.15,0.18,0.14,,,,,,,,,,,,,,,,
missense_variant,RIPK4,MISSENSE,NM_020639.2:p.Ala12Gly/c.35C>G,gCg/gGg,MODERATE,COSM1414218(1),0.122604,0,rs6586239,1(T),0.0(B),-2.19(N),-0.9440(T),,chr21,43187167,43187167,G,C,het,missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala12Gly/c.35C>G|784|RIPK4|protein_coding|CODING|NM_020639.2|1|1),"NHEK:CTCF,NHEK:H3K9ac,NHEK:H3K27ac,HepG2:Gabp,HeLa-S3:DNase1,HMEC:H3K9ac,NHEK:H3K4me3,HUVEC:H3K27me3,HepG2:Sin3Ak20,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,NH-A:H3K27me3,HepG2:HEY1,HeLa-S3:PolII,K562:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3",,,,0.1094,0.1095,0.1561,0.17,0.18,0.16,,0.001775(N),0.000(P),"2.42,2.42(T,T)",0.0000(T),0.074,1.037100,3.68,3.68,-0.365000,0.548000,4.871000,0.932000,1.000000,1.000000,12.1646
missense_variant,PRDM15,MISSENSE,NM_022115.4:p.Ser1481Pro/c.4441T>C,Tcg/Ccg,MODERATE,,0.998403,1,rs3850706,1(T),"0.0,0.0,0.0(B,B,B)",-0.695(N),-0.9803(T),,chr21,43221483,43221483,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser1152Pro/c.3454T>C|1178|PRDM15|protein_coding|CODING|NM_001040424.2|24|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser1172Pro/c.3514T>C|1198|PRDM15|protein_coding|CODING|NM_001282934.1|25|1),missense_variant(MODERATE|MISSENSE|Tcg/Ccg|p.Ser1481Pro/c.4441T>C|1507|PRDM15|protein_coding|CODING|NM_022115.4|31|1),non_coding_exon_variant(MODIFIER|||n.3573T>C||PRDM15||CODING|NR_104257.1|25|1),non_coding_exon_variant(MODIFIER|||n.3453T>C||PRDM15||CODING|NR_104258.1|24|1),non_coding_exon_variant(MODIFIER|||n.3420T>C||PRDM15||CODING|NR_104260.1|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.994,0.99,1.00,0.99,,,1.000(P),"3.21,3.22,3.22,3.21,3.14(T,T,T,T,T)",0.0000(T),0.1,-1.645340,4.2,3.3,-1.132000,0.346000,2.113000,0.012000,0.026000,0.044000,8.7884
synonymous_variant,PRDM15,SILENT,NM_022115.4:p.Leu1366Leu/c.4098A>G,ttA/ttG,LOW,,0.788339,0.7718,rs2236696,,,,,,chr21,43221826,43221826,T,C,hom,"synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1037Leu/c.3111A>G|1178|PRDM15|protein_coding|CODING|NM_001040424.2|24|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1057Leu/c.3171A>G|1198|PRDM15|protein_coding|CODING|NM_001282934.1|25|1),synonymous_variant(LOW|SILENT|ttA/ttG|p.Leu1366Leu/c.4098A>G|1507|PRDM15|protein_coding|CODING|NM_022115.4|31|1),non_coding_exon_variant(MODIFIER|||n.3230A>G||PRDM15||CODING|NR_104257.1|25|1),non_coding_exon_variant(MODIFIER|||n.3110A>G||PRDM15||CODING|NR_104258.1|24|1),non_coding_exon_variant(MODIFIER|||n.3077A>G||PRDM15||CODING|NR_104260.1|24|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7914,0.6182,0.6978,0.79,0.91,0.73,,,,,,,,,,,,,,,,
synonymous_variant,PRDM15,SILENT,NM_022115.4:p.Asn1108Asn/c.3324T>C,aaT/aaC,LOW,,0.842851,0.7103,rs28477638,,,,,,chr21,43239972,43239972,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn779Asn/c.2337T>C|1178|PRDM15|protein_coding|CODING|NM_001040424.2|18|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn799Asn/c.2397T>C|1198|PRDM15|protein_coding|CODING|NM_001282934.1|19|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn1108Asn/c.3324T>C|1507|PRDM15|protein_coding|CODING|NM_022115.4|25|1),non_coding_exon_variant(MODIFIER|||n.2456T>C||PRDM15||CODING|NR_104257.1|19|1),non_coding_exon_variant(MODIFIER|||n.2336T>C||PRDM15||CODING|NR_104258.1|18|1),non_coding_exon_variant(MODIFIER|||n.2303T>C||PRDM15||CODING|NR_104260.1|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8221,0.8602,0.8907,0.90,0.92,0.90,,,,,,,,,,,,,,,,
missense_variant,PRDM15,MISSENSE,NM_001282934.1:p.Asp510His/c.1528G>C,Gac/Cac,MODERATE,,0.0357428,0,rs113774580,0.12(T),0.0(B),,-0.9908(T),,chr21,43254623,43254623,C,G,het,"missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp510His/c.1528G>C|1198|PRDM15|protein_coding|CODING|NM_001282934.1|12|1),intron_variant(MODIFIER|||n.1528+923G>C||PRDM15||CODING|NR_104258.1|11|1),intron_variant(MODIFIER|||c.1477+923G>C|1178|PRDM15|protein_coding|CODING|NM_001040424.2|11|1),intron_variant(MODIFIER|||c.2464+923G>C|1507|PRDM15|protein_coding|CODING|NM_022115.4|18|1),intron_variant(MODIFIER|||n.1443+923G>C||PRDM15||CODING|NR_104260.1|11|1),non_coding_exon_variant(MODIFIER|||n.1639G>C||PRDM15||CODING|NR_104257.1|12|1)","H1ESC:H3K36me3,GM12878:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0112,0.0504,0.1213,,,,,,1.000(P),"3.08,3.08(T,T)",0.0003(T),0.063,1.646708,1.63,-0.444,0.298000,-0.114000,0.086000,0.973000,0.037000,0.021000,7.2415
synonymous_variant,PRDM15,SILENT,NM_022115.4:p.Gln782Gln/c.2346G>A,caG/caA,LOW,COSM4002035(1),0.535743,0.4425,rs4920098,,,,,,chr21,43256252,43256252,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln453Gln/c.1359G>A|1178|PRDM15|protein_coding|CODING|NM_001040424.2|10|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln453Gln/c.1359G>A|1198|PRDM15|protein_coding|CODING|NM_001282934.1|10|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln782Gln/c.2346G>A|1507|PRDM15|protein_coding|CODING|NM_022115.4|17|1),non_coding_exon_variant(MODIFIER|||n.1470G>A||PRDM15||CODING|NR_104257.1|10|1),non_coding_exon_variant(MODIFIER|||n.1410G>A||PRDM15||CODING|NR_104258.1|10|1),non_coding_exon_variant(MODIFIER|||n.1325G>A||PRDM15||CODING|NR_104260.1|10|1)","H1ESC:H3K36me3,K562:PolII,K562:H3K27ac,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.5838,0.6671,0.5915,0.55,0.48,0.59,,,,,,,,,,,,,,,,
synonymous_variant,PRDM15,SILENT,NM_022115.4:p.Cys743Cys/c.2229C>T,tgC/tgT,LOW,,0.0103834,0,rs73219067,,,,,,chr21,43256629,43256629,G,A,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys414Cys/c.1242C>T|1178|PRDM15|protein_coding|CODING|NM_001040424.2|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys414Cys/c.1242C>T|1198|PRDM15|protein_coding|CODING|NM_001282934.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys743Cys/c.2229C>T|1507|PRDM15|protein_coding|CODING|NM_022115.4|16|1),non_coding_exon_variant(MODIFIER|||n.1293C>T||PRDM15||CODING|NR_104258.1|9|1),non_coding_exon_variant(MODIFIER|||n.1353C>T||PRDM15||CODING|NR_104257.1|9|1),non_coding_exon_variant(MODIFIER|||n.1208C>T||PRDM15||CODING|NR_104260.1|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0115,0.0348,0.02,0.01,0.03,,,,,,,,,,,,,,,,
synonymous_variant,PRDM15,SILENT,NM_022115.4:p.Glu559Glu/c.1677G>A,gaG/gaA,LOW,,0.615415,0.4742,rs2277793,,,,,,chr21,43267260,43267260,C,T,het,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu230Glu/c.690G>A|1178|PRDM15|protein_coding|CODING|NM_001040424.2|6|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu230Glu/c.690G>A|1198|PRDM15|protein_coding|CODING|NM_001282934.1|6|1),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu559Glu/c.1677G>A|1507|PRDM15|protein_coding|CODING|NM_022115.4|13|1),non_coding_exon_variant(MODIFIER|||n.801G>A||PRDM15||CODING|NR_104257.1|6|1),non_coding_exon_variant(MODIFIER|||n.801G>A||PRDM15||CODING|NR_104258.1|6|1),non_coding_exon_variant(MODIFIER|||n.656G>A||PRDM15||CODING|NR_104260.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6299,0.745,0.6928,0.65,0.59,0.69,,,,,,,,,,,,,,,,
missense_variant,PRDM15,MISSENSE,NM_022115.4:p.Gly124Asp/c.371G>A,gGt/gAt,MODERATE,COSM3758888(1),0.0411342,0,rs143393748,0(D),0.959(D),0(N),-1.0319(T),,chr21,43298846,43298846,C,T,het,"missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly124Asp/c.371G>A|1507|PRDM15|protein_coding|CODING|NM_022115.4|3|1),intron_variant(MODIFIER|||c.102+533G>A|1178|PRDM15|protein_coding|CODING|NM_001040424.2|1|1),intron_variant(MODIFIER|||c.102+533G>A|1198|PRDM15|protein_coding|CODING|NM_001282934.1|1|1),intron_variant(MODIFIER|||n.213+533G>A||PRDM15||CODING|NR_104257.1|1|1),intron_variant(MODIFIER|||n.213+533G>A||PRDM15||CODING|NR_104258.1|1|1)","K562:ZBTB7A,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,GM12878:ZEB1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.0276,0.0677,0.1233,0.08,0.02,0.11,,,0.999(P),2.7(T),0.0006(T),0.043,2.124613,1.67,1.67,0.289000,1.251000,0.388000,0.331000,0.034000,0.001000,6.7903
synonymous_variant,C2CD2,SILENT,NM_015500.1:p.Ser373Ser/c.1119G>A,tcG/tcA,LOW,COSM444519(1),0.365815,0.3859,rs3746904,,,,,,chr21,43327793,43327793,C,T,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser373Ser/c.1119G>A|696|C2CD2|protein_coding|CODING|NM_015500.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser218Ser/c.654G>A|541|C2CD2|protein_coding|CODING|NM_199050.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3538,0.4683,0.3509,0.35,0.36,0.35,,,,,,,,,,,,,,,,
synonymous_variant,C2CD2,SILENT,NM_015500.1:p.Phe352Phe/c.1056T>C,ttT/ttC,LOW,,0.607428,0.5923,rs3746906,,,,,,chr21,43327856,43327856,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe352Phe/c.1056T>C|696|C2CD2|protein_coding|CODING|NM_015500.1|9|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe197Phe/c.591T>C|541|C2CD2|protein_coding|CODING|NM_199050.2|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6217,0.5159,0.6491,0.63,0.61,0.64,,,,,,,,,,,,,,,,
synonymous_variant,ZBTB21,SILENT,NM_001098402.1:p.Ala158Ala/c.474G>A,gcG/gcA,LOW,,0.691893,0.6637,rs915837,,,,,,chr21,43413731,43413731,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala158Ala/c.474G>A|1066|ZBTB21|protein_coding|CODING|NM_001098402.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala158Ala/c.474G>A|1066|ZBTB21|protein_coding|CODING|NM_020727.4|2|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala158Ala/c.474G>A|865|ZBTB21|protein_coding|CODING|NM_001098403.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7822,0.5086,0.7217,0.71,0.72,0.71,,,,,,,,,,,,,,,,
synonymous_variant,UMODL1,SILENT,NM_173568.3:p.Pro118Pro/c.354T>C,ccT/ccC,LOW,COSM3758892(1),0.667332,0.5496,rs7278485,,,,,,chr21,43504228,43504228,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro118Pro/c.354T>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro46Pro/c.138T>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro46Pro/c.138T>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro118Pro/c.354T>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|3|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7249,0.5821,0.6223,0.67,0.77,0.63,,,,,,,,,,,,,,,,
synonymous_variant,UMODL1,SILENT,NM_173568.3:p.Tyr270Tyr/c.810T>C,taT/taC,LOW,COSM1414239(1),0.300719,0.374,rs67055914,,,,-1.0068(T),,chr21,43510427,43510427,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr270Tyr/c.810T>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr198Tyr/c.594T>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr198Tyr/c.594T>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|6|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr270Tyr/c.810T>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3333,0.2997,0.2018,0.22,0.24,0.21,,,1.000(P),,0.0000(T),.,-2.138538,3.89,-3.21,-1.741000,-1.396000,-2.077000,0.050000,0.000000,0.000000,11.1076
missense_variant,UMODL1,MISSENSE,NM_173568.3:p.Asn274His/c.820A>C,Aat/Cat,MODERATE,COSM1414242(1),0.240815,0.374,rs17114359,0.13(T),"0.12,0.022(B,B)",0.345(N),-1.1342(T),,chr21,43510437,43510437,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn274His/c.820A>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|6|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn202His/c.604A>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|6|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn202His/c.604A>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|6|1),missense_variant(MODERATE|MISSENSE|Aat/Cat|p.Asn274His/c.820A>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|6|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3282,0.281,0.2018,0.17,0.09,0.21,,0.878228(N),1.000(P),"-2.89,-2.89,-2.89,-2.89(D,D,D,D)",0.0000(T),0.145,0.368519,3.89,1.51,0.260000,0.188000,1.864000,0.044000,0.004000,0.925000,8.6932
synonymous_variant,UMODL1,SILENT,NM_173568.3:p.Ser420Ser/c.1260T>C,agT/agC,LOW,,0.542332,0.5813,rs220109,,,,,,chr21,43522349,43522349,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser420Ser/c.1260T>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|8|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser348Ser/c.1044T>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|8|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser348Ser/c.1044T>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|8|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser420Ser/c.1260T>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|8|1),non_coding_exon_variant(MODIFIER|||n.2036A>G||C21orf128||NON_CODING|NR_027243.1|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:DNase1,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5562,0.6484,0.5358,0.52,0.49,0.54,,,,,,,,,,,,,,,,
missense_variant,UMODL1,MISSENSE,NM_173568.3:p.Met559Thr/c.1676T>C,aTg/aCg,MODERATE,,0.768171,0.8909,rs220126,1(T),"0.0,0.0(B,B)",-1.1(N),-0.9664(T),,chr21,43531008,43531008,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met559Thr/c.1676T>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|11|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met487Thr/c.1460T>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|11|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met487Thr/c.1460T>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|11|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met559Thr/c.1676T>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|11|1)","GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7975,0.8516,0.8042,0.75,0.66,0.80,,0.424186(N),1.000(P),"-0.45,-0.44,-0.45,-0.44(T,T,T,T)",0.0000(T),0.061,-2.142517,3.7,1.88,-0.119000,0.188000,-0.208000,0.001000,0.000000,0.000000,6.4164
missense_variant,UMODL1,MISSENSE,NM_173568.3:p.Arg691Gly/c.2071C>G,Cgg/Ggg,MODERATE,COSM3758894(5),0.722644,0.881,rs220127,0.45(T),0.0(B),,-0.9846(T),,chr21,43531403,43531403,C,G,hom,"missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg619Gly/c.1855C>G|1374|UMODL1|protein_coding|CODING|NM_001199527.1|11|1),missense_variant(MODERATE|MISSENSE|Cgg/Ggg|p.Arg691Gly/c.2071C>G|1446|UMODL1|protein_coding|CODING|NM_173568.3|11|1),intron_variant(MODIFIER|||c.1899+172C>G|1318|UMODL1|protein_coding|CODING|NM_001004416.2|11|1),intron_variant(MODIFIER|||c.1683+172C>G|1246|UMODL1|protein_coding|CODING|NM_001199528.2|11|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7894,0.8343,0.8062,0.75,0.60,0.81,,,1.000(P),"-0.57,-0.37(T,T)",0.0000(T),0.013,-0.429238,2.16,-3.33,-1.000000,-1.264000,-0.665000,0.000000,0.000000,0.000000,2.0086
missense_variant,UMODL1,MISSENSE,NM_173568.3:p.Ile767Thr/c.2300T>C,aTc/aCc,MODERATE,,0.780351,0.8621,rs220129,1(T),"0.0,0.0(B,B)",-0.975(N),-0.9573(T),,chr21,43531632,43531632,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile695Thr/c.2084T>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|11|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile767Thr/c.2300T>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|11|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile639Thr/c.1916T>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|12|1),missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile567Thr/c.1700T>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|12|1)","HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8262,0.8617,0.8211,0.77,0.66,0.81,,0.232739(N),1.000(P),"-0.57,-0.49,-0.57,-0.49(T,T,T,T)",0.0000(T),0.02,-1.492611,4.6,1.72,-1.318000,-0.010000,0.060000,0.034000,0.000000,0.027000,6.8287
synonymous_variant,UMODL1,SILENT,NM_173568.3:p.Pro1307Pro/c.3921T>C,ccT/ccC,LOW,,0.815296,0.7579,rs220158,,,,,,chr21,43547788,43547788,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1179Pro/c.3537T>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|20|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1235Pro/c.3705T>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|19|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1107Pro/c.3321T>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|20|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1307Pro/c.3921T>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|19|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.771,0.8876,0.9066,0.88,0.79,0.92,,,,,,,,,,,,,,,,
synonymous_variant,UMODL1,SILENT,NM_173568.3:p.Pro1390Pro/c.4170T>A,ccT/ccA,LOW,COSM3758896(1),0.335463,0.4097,rs3819141,,,,,,chr21,43557559,43557559,T,A,hom,"synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro1262Pro/c.3786T>A|1318|UMODL1|protein_coding|CODING|NM_001004416.2|22|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro1318Pro/c.3954T>A|1374|UMODL1|protein_coding|CODING|NM_001199527.1|21|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro1190Pro/c.3570T>A|1246|UMODL1|protein_coding|CODING|NM_001199528.2|22|1),synonymous_variant(LOW|SILENT|ccT/ccA|p.Pro1390Pro/c.4170T>A|1446|UMODL1|protein_coding|CODING|NM_173568.3|21|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.409,0.3703,0.3718,0.32,0.21,0.38,,,,,,,,,,,,,,,,
missense_variant,UMODL1,MISSENSE,NM_173568.3:p.Asn1437His/c.4309A>C,Aac/Cac,MODERATE,COSM3758898(1),0.220647,0.256,rs3819142,,"0.126,0.116(B,B)",0(N),-1.0793(T),,chr21,43557698,43557698,A,C,hom,"missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn1309His/c.3925A>C|1318|UMODL1|protein_coding|CODING|NM_001004416.2|22|1),missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn1365His/c.4093A>C|1374|UMODL1|protein_coding|CODING|NM_001199527.1|21|1),missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn1237His/c.3709A>C|1246|UMODL1|protein_coding|CODING|NM_001199528.2|22|1),missense_variant(MODERATE|MISSENSE|Aac/Cac|p.Asn1437His/c.4309A>C|1446|UMODL1|protein_coding|CODING|NM_173568.3|21|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3139,0.245,0.1769,0.17,0.16,0.18,,0.253004(N),1.000(P),"-0.66,-0.64,-0.66,-0.65(T,T,T,T)",0.0000(T),0.05,1.088116,3.03,1.19,-1.098000,0.336000,2.218000,0.004000,0.011000,0.215000,7.5416
synonymous_variant,TMPRSS3,SILENT,NM_024022.2:p.Val151Val/c.453G>A,gtG/gtA,LOW,COSM1414270(3),0.463059,0.2758,rs2839501,,,,,,chr21,43805637,43805637,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val151Val/c.453G>A|453|TMPRSS3|protein_coding|CODING|NM_001256317.1|6|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val151Val/c.453G>A|454|TMPRSS3|protein_coding|CODING|NM_024022.2|6|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val24Val/c.72G>A|327|TMPRSS3|protein_coding|CODING|NM_032404.2|3|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val151Val/c.453G>A|344|TMPRSS3|protein_coding|CODING|NM_032405.1|6|1),non_coding_exon_variant(MODIFIER|||n.1409G>A||TMPRSS3||CODING|NR_046020.1|6|1)","HepG2:H3K4me2,GM12878:H3K36me3,HepG2:H3K27ac,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,IMR90:H3K27me3",,RCV000039359.1,,0.273,0.3646,0.3429,0.51,0.80,0.36,,,,,,,,,,,,,,,,
missense_variant,UBASH3A,MISSENSE,NM_018961.3:p.Ser18Gly/c.52A>G,Agc/Ggc,MODERATE,,0.545327,0.4643,rs2277798,0.65(T),"0.001,0.001,0.0(B,B,B)",-1.39(N),-0.9862(T),,chr21,43824106,43824106,A,G,het,"missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser18Gly/c.52A>G|623|UBASH3A|protein_coding|CODING|NM_001001895.2|1|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser18Gly/c.52A>G|526|UBASH3A|protein_coding|CODING|NM_001243467.1|1|1),missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser18Gly/c.52A>G|661|UBASH3A|protein_coding|CODING|NM_018961.3|1|1)","K562:ZBTB7A,K562:PolII,HUVEC:H3K27me3,CD4:DNase1,CD4:H3K4me3,K562:Gata2,NHEK:H3K27me3,IMR90:H3K27me3,CD4:PolII,K562:H3K4me2,K562:DNase1",,,,0.5562,0.4899,0.6262,0.63,0.58,0.65,,0.415485(N),1.000(P),"1.95,1.95,1.95,1.95(T,T,T,T)",0.0000(T),0.044,1.010149,5.22,3.39,-0.677000,0.588000,0.556000,0.859000,0.990000,0.985000,8.3647
synonymous_variant,UBASH3A,SILENT,NM_018961.3:p.Ser23Ser/c.69G>C,tcG/tcC,LOW,COSM1744676(2),0.39976,0.4593,rs2277799,,,,,,chr21,43824123,43824123,G,C,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser23Ser/c.69G>C|623|UBASH3A|protein_coding|CODING|NM_001001895.2|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser23Ser/c.69G>C|526|UBASH3A|protein_coding|CODING|NM_001243467.1|1|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser23Ser/c.69G>C|661|UBASH3A|protein_coding|CODING|NM_018961.3|1|1)","K562:ZBTB7A,K562:PolII,HUVEC:H3K27me3,CD4:DNase1,CD4:H3K4me3,K562:Gata2,NHEK:H3K27me3,IMR90:H3K27me3,CD4:PolII,K562:H3K4me2,K562:DNase1",,,,0.3804,0.3415,0.3688,0.39,0.38,0.39,,,,,,,,,,,,,,,,
missense_variant,UBASH3A,MISSENSE,NM_018961.3:p.Leu28Phe/c.82C>T,Ctc/Ttc,MODERATE,,0.067492,0.1716,rs2277800,0.02(D),"0.999,0.999,0.997(D,D,D)",3.77(H),-0.7549(T),,chr21,43824136,43824136,C,T,het,"missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu28Phe/c.82C>T|623|UBASH3A|protein_coding|CODING|NM_001001895.2|1|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu28Phe/c.82C>T|526|UBASH3A|protein_coding|CODING|NM_001243467.1|1|1),missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu28Phe/c.82C>T|661|UBASH3A|protein_coding|CODING|NM_018961.3|1|1)","K562:ZBTB7A,K562:PolII,HUVEC:H3K27me3,CD4:DNase1,CD4:H3K4me3,K562:Gata2,NHEK:H3K27me3,IMR90:H3K27me3,CD4:PolII,K562:H3K4me2,K562:DNase1",,,,0.0787,0.0159,0.0537,0.03,0.02,0.04,,0.000067(D),0.001(P),"0.41,0.41,0.41,0.41(T,T,T,T)",0.0073(T),0.486,4.606385,5.32,4.43,0.416000,1.222000,5.443000,0.960000,0.990000,1.000000,15.3365
synonymous_variant,UBASH3A,SILENT,NM_018961.3:p.Pro577Pro/c.1731A>G,ccA/ccG,LOW,,0.616813,0.5169,rs868092,,,,,,chr21,43863521,43863521,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro539Pro/c.1617A>G|623|UBASH3A|protein_coding|CODING|NM_001001895.2|12|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro577Pro/c.1731A>G|661|UBASH3A|protein_coding|CODING|NM_018961.3|13|1),intron_variant(MODIFIER|||c.1517+815A>G|526|UBASH3A|protein_coding|CODING|NM_001243467.1|11|1)",HepG2:H3K27me3,,,,0.6554,0.6556,0.6879,0.70,0.63,0.73,,,,,,,,,,,,,,,,
synonymous_variant,RSPH1,SILENT,NM_080860.3:p.Ala131Ala/c.393G>A,gcG/gcA,LOW,COSM3758911(3),0.279353,0.1994,rs2839536,,,,,,chr21,43905887,43905887,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala93Ala/c.279G>A|271|RSPH1|protein_coding|CODING|NM_001286506.1|4|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala131Ala/c.393G>A|309|RSPH1|protein_coding|CODING|NM_080860.3|5|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.2924,0.6182,0.3728,0.31,0.14,0.39,,,,,,,,,,,,,,,,
missense_variant,SLC37A1,MISSENSE,NM_018964.3:p.Val414Ile/c.1240G>A,Gtc/Atc,MODERATE,COSM4002047(1),0.819888,0.5069,rs228104,0.47(T),0.001(B),0.41(N),-0.9525(T),,chr21,43985955,43985955,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val414Ile/c.1240G>A|533|SLC37A1|protein_coding|CODING|NM_018964.3|16|1),"H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.7751,0.9265,0.8748,0.92,0.98,0.90,,0.031029(N),1.000(P),"0.26,0.26(T,T)",0.0000(T),0.065,-0.225827,4.12,-3.5,-1.326000,-1.063000,0.321000,0.673000,0.821000,0.282000,15.4175
synonymous_variant,PDE9A,SILENT,NM_002606.2:p.Cys301Cys/c.903C>T,tgC/tgT,LOW,COSM149237(4),0.228834,0.4127,rs13047953,,,,,,chr21,44180443,44180443,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys241Cys/c.723C>T|533|PDE9A|protein_coding|CODING|NM_001001567.1|11|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys174Cys/c.522C>T|466|PDE9A|protein_coding|CODING|NM_001001568.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys173Cys/c.519C>T|465|PDE9A|protein_coding|CODING|NM_001001569.1|8|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys248Cys/c.744C>T|540|PDE9A|protein_coding|CODING|NM_001001570.1|11|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys200Cys/c.600C>T|492|PDE9A|protein_coding|CODING|NM_001001571.1|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys94Cys/c.282C>T|386|PDE9A|protein_coding|CODING|NM_001001572.1|8|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys94Cys/c.282C>T|386|PDE9A|protein_coding|CODING|NM_001001573.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys215Cys/c.645C>T|507|PDE9A|protein_coding|CODING|NM_001001574.1|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys141Cys/c.423C>T|433|PDE9A|protein_coding|CODING|NM_001001575.1|7|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys84Cys/c.252C>T|376|PDE9A|protein_coding|CODING|NM_001001576.1|7|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys167Cys/c.501C>T|459|PDE9A|protein_coding|CODING|NM_001001577.1|8|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys199Cys/c.597C>T|491|PDE9A|protein_coding|CODING|NM_001001578.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys94Cys/c.282C>T|386|PDE9A|protein_coding|CODING|NM_001001579.1|9|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys84Cys/c.252C>T|376|PDE9A|protein_coding|CODING|NM_001001580.1|6|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys234Cys/c.702C>T|526|PDE9A|protein_coding|CODING|NM_001001581.1|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys260Cys/c.780C>T|552|PDE9A|protein_coding|CODING|NM_001001582.1|11|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys275Cys/c.825C>T|567|PDE9A|protein_coding|CODING|NM_001001583.1|11|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys94Cys/c.282C>T|386|PDE9A|protein_coding|CODING|NM_001001584.2|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys94Cys/c.282C>T|386|PDE9A|protein_coding|CODING|NM_001001585.1|10|1),synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys301Cys/c.903C>T|593|PDE9A|protein_coding|CODING|NM_002606.2|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.1115,0.219,0.4374,0.32,0.08,0.43,,,,,,,,,,,,,,,,
missense_variant,WDR4,MISSENSE,NM_018669.5:p.Pro266Ser/c.796C>T,Cct/Tct,MODERATE,COSM3758914(2),0.34345,0.0744,rs15736,0.47(T),"0.352,0.106(B,B)",2.175(M),-1.0135(T),,chr21,44273858,44273858,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro265Ser/c.793C>T|411|WDR4|protein_coding|CODING|NM_001260474.1|9|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro120Ser/c.358C>T|266|WDR4|protein_coding|CODING|NM_001260475.1|9|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro120Ser/c.358C>T|266|WDR4|protein_coding|CODING|NM_001260476.1|9|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro120Ser/c.358C>T|266|WDR4|protein_coding|CODING|NM_001260477.1|9|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro266Ser/c.796C>T|412|WDR4|protein_coding|CODING|NM_018669.5|9|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro266Ser/c.796C>T|412|WDR4|protein_coding|CODING|NM_033661.4|9|1),non_coding_exon_variant(MODIFIER|||n.776C>T||WDR4||CODING|NR_048535.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2454,0.232,0.3767,0.47,0.62,0.39,,0.002702(N),0.002(P),"1.7,1.7(T,T)",0.0000(T),0.192,1.525330,4.52,4.52,0.609000,2.227000,4.410000,0.274000,0.134000,1.000000,14.5336
missense_variant,WDR4,MISSENSE,NM_018669.5:p.Lys71Asn/c.213G>C,aaG/aaC,MODERATE,COSM3758916(1),0.502995,0.3363,rs2248490,0.03(D),"0.156,0.111(B,B)",1.845(L),-0.9137(T),,chr21,44293744,44293744,C,G,hom,"missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys71Asn/c.213G>C|411|WDR4|protein_coding|CODING|NM_001260474.1|3|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys71Asn/c.213G>C|412|WDR4|protein_coding|CODING|NM_018669.5|3|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys71Asn/c.213G>C|412|WDR4|protein_coding|CODING|NM_033661.4|3|1),5_prime_UTR_variant(MODIFIER||10180|c.-174G>C|266|WDR4|protein_coding|CODING|NM_001260475.1|3|1),5_prime_UTR_variant(MODIFIER||10180|c.-174G>C|266|WDR4|protein_coding|CODING|NM_001260476.1|3|1),5_prime_UTR_variant(MODIFIER||10180|c.-174G>C|266|WDR4|protein_coding|CODING|NM_001260477.1|3|1),non_coding_exon_variant(MODIFIER|||n.193G>C||WDR4||CODING|NR_048535.1|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4765,0.3199,0.5258,0.58,0.69,0.52,,0.980933(N),0.836(P),"1.59,1.59(T,T)",0.0000(T),0.122,1.772878,4.68,3.52,0.655000,2.302000,1.906000,0.997000,0.973000,1.000000,5.7912
synonymous_variant,NDUFV3,SILENT,NM_021075.3:p.Ser156Ser/c.468T>G,tcT/tcG,LOW,COSM4134964(1),0.530152,0.3383,rs4148973,,,,,,chr21,44323590,44323590,T,G,hom,"synonymous_variant(LOW|SILENT|tcT/tcG|p.Ser156Ser/c.468T>G|473|NDUFV3|protein_coding|CODING|NM_021075.3|3|1),intron_variant(MODIFIER|||c.170-5384T>G|108|NDUFV3|protein_coding|CODING|NM_001001503.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.3473,0.5885,0.64,0.71,0.61,,,,,,,,,,,,,,,,
missense_variant,NDUFV3,MISSENSE,NM_021075.3:p.Asp415Asn/c.1243G>A,Gac/Aac,MODERATE,COSM4134965(1),0.529153,0.3363,rs10595,0.03(D),,,-0.9316(T),,chr21,44324365,44324365,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp415Asn/c.1243G>A|473|NDUFV3|protein_coding|CODING|NM_021075.3|3|1),intron_variant(MODIFIER|||c.170-4609G>A|108|NDUFV3|protein_coding|CODING|NM_001001503.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5276,0.3473,0.5885,0.64,0.70,0.61,,0.169968(N),1.000(P),,0.0000(T),0.001,1.033001,3.82,2.94,0.462000,0.907000,0.822000,0.021000,0.006000,0.009000,7.8987
synonymous_variant,PKNOX1,SILENT,NM_004571.4:p.Thr114Thr/c.342T>C,acT/acC,LOW,,0.848043,0.7708,rs234781,,,,,,chr21,44430325,44430325,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr114Thr/c.342T>C|436|PKNOX1|protein_coding|CODING|NM_004571.4|4|1),intron_variant(MODIFIER|||c.-1+2597T>C|319|PKNOX1|protein_coding|CODING|NM_001286258.1|3|1)","H1ESC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.864,0.7824,0.8817,0.91,0.91,0.91,,,,,,,,,,,,,,,,
synonymous_variant,CBS,SILENT,NM_000071.2:p.Ala360Ala/c.1080C>T,gcC/gcT,LOW,COSM3758919(3),0.295527,0.5744,rs1801181,,,,-0.9948(T),,chr21,44480616,44480616,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala360Ala/c.1080C>T|551|CBS|protein_coding|CODING|NM_000071.2|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala360Ala/c.1080C>T|551|CBS|protein_coding|CODING|NM_001178008.1|12|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala360Ala/c.1080C>T|551|CBS|protein_coding|CODING|NM_001178009.1|12|1)","H1ESC:H3K36me3,K562:PolII,GM06990:H3K27me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,RCV000078107.1|RCV000124155.1,,0.363,0.1888,0.3857,0.26,0.07,0.36,,,0.000(P),,0.0000(T),.,-0.520158,5.05,-10.1,-0.469000,-2.547000,-2.619000,0.024000,0.239000,0.000000,3.9564
synonymous_variant,CBS,SILENT,NM_000071.2:p.Tyr233Tyr/c.699C>T,taC/taT,LOW,COSM1414310(3),0.196486,0.0327,rs234706,,,,,,chr21,44485350,44485350,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr233Tyr/c.699C>T|551|CBS|protein_coding|CODING|NM_000071.2|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr233Tyr/c.699C>T|551|CBS|protein_coding|CODING|NM_001178008.1|8|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr233Tyr/c.699C>T|551|CBS|protein_coding|CODING|NM_001178009.1|8|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,RCV000078110.1|RCV000124149.1,,0.229,0.1844,0.3062,0.31,0.23,0.34,,,,,,,,,,,,,,,,
synonymous_variant,CRYAA,SILENT,NM_000394.3:p.Asp2Asp/c.6C>T,gaC/gaT,LOW,COSM4134966(1),0.5,0.2192,rs872331,,,,,,chr21,44589215,44589215,C,T,het,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp2Asp/c.6C>T|173|CRYAA|protein_coding|CODING|NM_000394.3|1|1),"GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.3129,0.5389,0.5934,0.64,0.73,0.60,,,,,,,,,,,,,,,,
synonymous_variant,SIK1,SILENT,NM_173354.3:p.Pro616Pro/c.1848C>T,ccC/ccT,LOW,COSM3758921(3),0.725439,0.8849,rs430552,,,,,,chr21,44837551,44837551,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro616Pro/c.1848C>T|783|SIK1|protein_coding|CODING|NM_173354.3|13|1),"H1ESC:H3K36me3,NHEK:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.727,0.8617,0.7922,0.72,0.56,0.81,,,,,,,,,,,,,,,,
missense_variant,SIK1,MISSENSE,NM_173354.3:p.Ala615Val/c.1844C>T,gCc/gTc,MODERATE,COSM3766658(1),0.830671,0.8958,rs430554,0.21(T),0.075(B),1.15(L),-1.0042(T),,chr21,44837555,44837555,G,A,het,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala615Val/c.1844C>T|783|SIK1|protein_coding|CODING|NM_173354.3|13|1),"H1ESC:H3K36me3,NHEK:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HeLa-S3:PolII,NHEK:H3K36me3,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,HMEC:DNase1,GM06990:H3K36me3,NHEK:DNase1",,,,0.8262,0.9092,0.8797,0.85,0.76,0.89,,0.280290(U),1.000(P),-0.59(T),0.0000(T),0.027,0.966961,3.17,2.25,0.655000,0.421000,5.716000,0.044000,0.074000,1.000000,10.6271
missense_variant,SIK1,MISSENSE,NM_173354.3:p.Gly15Ser/c.43G>A,Ggt/Agt,MODERATE,COSM3758922(1),0.166534,0.2153,rs3746951,0.74(T),0.001(B),0.55(N),-1.0817(T),,chr21,44846016,44846016,C,T,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly15Ser/c.43G>A|783|SIK1|protein_coding|CODING|NM_173354.3|2|1),"K562:ZBTB7A,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,HepG2:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:DNase1,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HeLa-S3:Ini1,IMR90:H3K27me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3,GM12878:Tcf12",,,,0.1299,0.2925,0.2684,0.19,0.05,0.26,,0.087231(N),1.000(P),-0.52(T),0.0000(T),0.046,1.062697,3.5,2.39,0.405000,1.506000,1.484000,0.405000,0.467000,0.800000,5.0217
synonymous_variant,RRP1B,SILENT,NM_015056.2:p.Ala201Ala/c.603G>A,gcG/gcA,LOW,COSM149238(2),0.646166,0.8353,rs2155722,,,,,,chr21,45096206,45096206,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala201Ala/c.603G>A|758|RRP1B|protein_coding|CODING|NM_015056.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7127,0.7291,0.6252,0.56,0.47,0.60,,,,,,,,,,,,,,,,
synonymous_variant,RRP1B,SILENT,NM_015056.2:p.Pro421Pro/c.1263A>G,ccA/ccG,LOW,COSM3758924(1),0.96845,0.8452,rs7279959,,,,,,chr21,45107518,45107518,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro421Pro/c.1263A>G|758|RRP1B|protein_coding|CODING|NM_015056.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.998,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,RRP1B,MISSENSE,NM_015056.2:p.Leu436Pro/c.1307T>C,cTg/cCg,MODERATE,,0.799521,0.8353,rs9306160,0(D),0.0(B),-0.345(N),-0.9336(T),,chr21,45107562,45107562,T,C,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu436Pro/c.1307T>C|758|RRP1B|protein_coding|CODING|NM_015056.2|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7096,0.7968,0.6173,0.70,0.92,0.59,,0.169105(N),1.000(P),1.48(T),0.0000(T),0.012,-0.192446,3.71,-3.16,-2.401000,-0.762000,-0.260000,0.002000,0.000000,0.000000,0.5899
synonymous_variant,RRP1,SILENT,NM_003683.5:p.Leu17Leu/c.49C>T,Ctg/Ttg,LOW,,0.0660942,0.0863,rs78489660,,,,,,chr21,45209559,45209559,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu17Leu/c.49C>T|461|RRP1|protein_coding|CODING|NM_003683.5|1|1),"GM12878:Cmyc,H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,H1ESC:USF1,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,K562:ETS1,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HeLa-S3:Max,HeLa-S3:H3K9ac,K562:ATF3,K562:CTCF,HUVEC:PolII,H1ESC:ATF3,HUVEC:H3K9ac,H1ESC:H3K27ac,HUVEC:CTCF,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,GM12878:ATF3,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM12878:Srf,GM06990:H3K4me3,HepG2:HEY1,GM12878:CTCF,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,K562:Gabp,K562:Cmyc,HUVEC:Cmyc,HMEC:CTCF,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:PolII,K562:Egr1,HepG2:H3K4me3,HepG2:CTCF,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,HepG2:Cmyc,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,H1ESC:CTCF,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.1626,0.0259,0.0457,0.05,0.02,0.06,,,,,,,,,,,,,,,,
synonymous_variant,RRP1,SILENT,NM_003683.5:p.Ile200Ile/c.600T>C,atT/atC,LOW,COSM149239(4),0.703474,0.7917,rs2838378,,,,,,chr21,45217559,45217559,T,C,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile200Ile/c.600T>C|461|RRP1|protein_coding|CODING|NM_003683.5|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7474,0.7003,0.4115,0.57,0.82,0.44,,,,,,,,,,,,,,,,
synonymous_variant,RRP1,SILENT,NM_003683.5:p.Gly253Gly/c.759T>C,ggT/ggC,LOW,COSM3758925(2),0.402756,0.3204,rs2838379,,,,,,chr21,45217929,45217929,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly253Gly/c.759T>C|461|RRP1|protein_coding|CODING|NM_003683.5|8|1),"H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4346,0.3631,0.2087,0.34,0.55,0.24,,,,,,,,,,,,,,,,
synonymous_variant,RRP1,SILENT,NM_003683.5:p.Val295Val/c.885T>C,gtT/gtC,LOW,COSM4134970(2),0.348842,0.3175,rs4566449,,,,,,chr21,45219524,45219524,T,C,het,synonymous_variant(LOW|SILENT|gtT/gtC|p.Val295Val/c.885T>C|461|RRP1|protein_coding|CODING|NM_003683.5|9|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4335,0.3415,0.2078,0.28,0.37,0.24,,,,,,,,,,,,,,,,
missense_variant,TRAPPC10,MISSENSE,NM_003274.4:p.Val726Met/c.2176G>A,Gtg/Atg,MODERATE,,0.394169,0.2976,rs2071152,0.17(T),"0.009,0.003(B,B)",0.145(N),-0.9801(T),,chr21,45503121,45503121,G,A,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val726Met/c.2176G>A|1259|TRAPPC10|protein_coding|CODING|NM_003274.4|14|1),"H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,CD4:H4K5ac,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3,NHEK:DNase1",,,,0.4387,0.3012,0.1541,0.31,0.61,0.16,,0.043713(N),0.000(P),1.91(T),0.0000(T),0.024,0.181776,5.73,-1.09,-0.773000,-0.108000,1.941000,0.003000,0.013000,0.951000,6.6404
synonymous_variant,TRAPPC10,SILENT,NM_003274.4:p.Ala839Ala/c.2517T>C,gcT/gcC,LOW,,0.420727,0.2986,rs1131999,,,,,,chr21,45506819,45506819,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala839Ala/c.2517T>C|1259|TRAPPC10|protein_coding|CODING|NM_003274.4|16|1),"H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.4427,0.3184,0.164,0.35,0.67,0.18,,,,,,,,,,,,,,,,
synonymous_variant,PWP2,SILENT,NM_005049.2:p.Tyr428Tyr/c.1284C>T,taC/taT,LOW,,,,,,,,,,chr21,45540324,45540324,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr428Tyr/c.1284C>T|919|PWP2|protein_coding|CODING|NM_005049.2|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ICOSLG,MISSENSE,NM_001283050.1:p.Val128Ile/c.382G>A,Gtt/Att,MODERATE,COSM3758927(2),0.269169,0.1438,rs11558819,0.36(T),"0.253,0.253(B,B)",1.87(L),-0.9920(T),,chr21,45656774,45656774,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val43Ile/c.127G>A|217|ICOSLG|protein_coding|CODING|NM_001283052.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val128Ile/c.382G>A|309|ICOSLG|protein_coding|CODING|NM_001283050.1|3|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val128Ile/c.382G>A|302|ICOSLG|protein_coding|CODING|NM_015259.5|3|1),intron_variant(MODIFIER|||c.56-1329G>A|185|ICOSLG|protein_coding|CODING|NM_001283051.1|2|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2393,0.3271,0.2873,0.29,0.32,0.27,,0.585727(N),1.000(P),"1.66,1.66,1.66(T,T,T)",0.0000(T),0.025,0.911038,5.01,1.05,-0.766000,0.332000,-0.355000,0.000000,0.000000,0.000000,4.0371
synonymous_variant,AIRE,SILENT,NM_000383.3:p.Ser196Ser/c.588C>T,tcC/tcT,LOW,COSM4002050(1),0.133187,0.1002,rs878081,,,,,,chr21,45708277,45708277,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser196Ser/c.588C>T|545|AIRE|protein_coding|CODING|NM_000383.3|5|1),"GM12878:H3K36me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116301.2,,0.1595,0.1916,0.2555,0.19,0.05,0.26,,,,,,,,,,,,,,,,
synonymous_variant,AIRE,SILENT,NM_000383.3:p.Ala399Ala/c.1197T>C,gcT/gcC,LOW,COSM1483985(4),0.35623,0.247,rs1800521,,,,,,chr21,45712977,45712977,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala399Ala/c.1197T>C|545|AIRE|protein_coding|CODING|NM_000383.3|10|1),"H1ESC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,RCV000116299.2,,0.3057,0.3184,0.3579,0.39,0.48,0.35,,,,,,,,,,,,,,,,
synonymous_variant,AIRE,SILENT,NM_000383.3:p.Asp526Asp/c.1578T>C,gaT/gaC,LOW,COSM329123(4),0.530351,0.6369,rs1133779,,,,,,chr21,45717550,45717550,T,C,het,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp526Asp/c.1578T>C|545|AIRE|protein_coding|CODING|NM_000383.3|14|1),"NHEK:CTCF,HeLa-S3:DNase1,HeLa-S3:Max,CD4:DNase1,K562:CTCF,H1ESC:H3K27me3,HUVEC:CTCF,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,HMEC:CTCF,K562:Rad21,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,IMR90:H3K27me3,HepG2:DNase1,GM12878:DNase1,HepG2:H3K27me3,HepG2:Rad21,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,K562:DNase1,H1ESC:CTCF,GM06990:CTCF",,RCV000116300.2,,0.3937,0.4841,0.4056,0.49,0.65,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PFKL,SILENT,NM_001002021.2:p.Leu172Leu/c.516C>T,ctC/ctT,LOW,COSM4134981(2),0.458466,0.38,rs1057034,,,,,,chr21,45732116,45732116,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu172Leu/c.516C>T|830|PFKL|protein_coding|CODING|NM_001002021.2|7|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu122Leu/c.366C>T|780|PFKL|protein_coding|CODING|NM_002626.5|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6074,0.5231,0.5755,0.48,0.30,0.57,,,,,,,,,,,,,,,,
missense_variant,PFKL,MISSENSE,NM_001002021.2:p.Asp287Val/c.860A>T,gAc/gTc,MODERATE,,0.0784744,0.0099,rs1057037,0.24(T),"0.008,0.682(B,P)",0.065(N),-0.8193(T),,chr21,45733867,45733867,A,T,het,"missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp287Val/c.860A>T|830|PFKL|protein_coding|CODING|NM_001002021.2|10|1),missense_variant(MODERATE|MISSENSE|gAc/gTc|p.Asp237Val/c.710A>T|780|PFKL|protein_coding|CODING|NM_002626.5|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1145,0.0677,0.0795,0.09,0.10,0.08,,0.000002(D),0.000(P),"-1.4,-1.4(T,T)",0.0121(T),0.154,2.458818,4.64,4.64,0.397000,1.736000,8.885000,0.585000,0.996000,1.000000,13.0796
synonymous_variant,C21orf2,SILENT,NM_001271441.1:p.Arg11Arg/c.33G>A,cgG/cgA,LOW,COSM3758931(1),0.326078,0.1528,rs11870,,,,,,chr21,45759045,45759045,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg11Arg/c.33G>A|255|C21orf2|protein_coding|CODING|NM_001271440.1|1|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg11Arg/c.33G>A|375|C21orf2|protein_coding|CODING|NM_001271441.1|1|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg11Arg/c.33G>A|256|C21orf2|protein_coding|CODING|NM_004928.2|1|1),upstream_gene_variant(MODIFIER||824||214|C21orf2|protein_coding|CODING|NM_001271442.1||1)","H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HepG2:ELF1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:H3K27ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,CD4:H3K36ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,CD4:HDAC1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,K562:HEY1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1,K562:E2F4",,,,0.4417,0.3069,0.2386,0.24,0.35,0.19,,,,,,,,,,,,,,,,
missense_variant,TRPM2,MISSENSE,NM_003307.3:p.Gln1189Arg/c.3566A>G,cAa/cGa,MODERATE,,0.950479,0.9593,rs9978351,0.63(T),"0.0,0.0(B,B)",-0.895(N),-1.0109(T),,chr21,45844751,45844751,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln1189Arg/c.3566A>G|1503|TRPM2|protein_coding|CODING|NM_003307.3|24|1),intron_variant(MODIFIER|||n.414+282T>C||TRPM2-AS||NON_CODING|NR_109964.1|1|1),non_coding_exon_variant(MODIFIER|||n.3669A>G||TRPM2||CODING|NR_038257.1|24|1)","K562:H3K27me3,HeLa-S3:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.9734,0.9078,0.998,0.98,0.94,1.00,,0.698376(N),1.000(P),"1.59,1.59,1.59,-0.8(T,T,T,T)",0.0000(T),0.044,-2.449711,3.75,-1.31,-0.246000,-0.387000,0.653000,0.058000,0.000000,0.007000,4.6363
missense_variant,KRTAP10-1,MISSENSE,NM_198691.2:p.Pro280Leu/c.839C>T,cCg/cTg,MODERATE,COSM3749751(6),0.621805,0.4861,rs233316,0.24(T),0.39(B),1.335(L),-1.1096(T),,chr21,45959195,45959195,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro280Leu/c.839C>T|282|KRTAP10-1|protein_coding|CODING|NM_198691.2|1|1),intron_variant(MODIFIER|||c.100-5389C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.304-5389C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5634,0.6081,0.6531,0.69,0.73,0.67,,,1.000(P),5.66(T),0.0000(T),0.037,-0.927214,3.28,-1.15,-0.186000,-0.403000,-0.233000,0.056000,0.000000,0.001000,4.1151
missense_variant,KRTAP10-1,MISSENSE,NM_198691.2:p.Arg241Gln/c.722G>A,cGg/cAg,MODERATE,,0.808506,0.755,rs233317,0.08(T),0.973(D),0.6(N),-1.2012(T),,chr21,45959312,45959312,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg241Gln/c.722G>A|282|KRTAP10-1|protein_coding|CODING|NM_198691.2|1|1),intron_variant(MODIFIER|||c.100-5506G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.304-5506G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8906,0.7305,0.826,0.83,0.81,0.83,,,1.000(P),4.94(T),0.0000(T),0.157,-0.377979,3.75,3.75,0.591000,2.101000,0.187000,0.008000,0.155000,0.000000,8.7834
synonymous_variant,KRTAP10-1,SILENT,NM_198691.2:p.Cys216Cys/c.648C>T,tgC/tgT,LOW,COSM3766660(2),0.574481,0.4683,rs233318,,,,,,chr21,45959386,45959386,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys216Cys/c.648C>T|282|KRTAP10-1|protein_coding|CODING|NM_198691.2|1|1),intron_variant(MODIFIER|||c.100-5580C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.304-5580C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5143,0.5634,0.6203,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-1,MISSENSE,NM_198691.2:p.Val101Met/c.301G>A,Gtg/Atg,MODERATE,,0.594649,0.4831,rs233319,0.09(T),0.922(D),2.31(M),-1.1464(T),,chr21,45959733,45959733,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val101Met/c.301G>A|282|KRTAP10-1|protein_coding|CODING|NM_198691.2|1|1),intron_variant(MODIFIER|||c.100-5927G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.304-5927G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","NHEK:CTCF,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.5593,0.5807,0.6362,,,,,,0.784(P),5.54(T),0.0000(T),0.285,-0.770030,3.46,3.46,0.491000,1.946000,0.530000,0.020000,0.036000,0.000000,14.0068
missense_variant,KRTAP10-1,MISSENSE,NM_198691.2:p.Pro39Leu/c.116C>T,cCg/cTg,MODERATE,,0.609824,0.4861,rs233320,0.05(D),0.995(D),2.51(M),-1.0710(T),,chr21,45959918,45959918,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro39Leu/c.116C>T|282|KRTAP10-1|protein_coding|CODING|NM_198691.2|1|1),intron_variant(MODIFIER|||c.100-6112C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.304-6112C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","NHEK:CTCF,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3",,,,0.546,0.5821,0.6402,0.69,0.73,0.66,,,0.000(P),2.99(T),0.0000(T),0.269,1.569235,3.03,3.03,0.491000,1.697000,2.860000,0.556000,0.418000,0.783000,9.6553
missense_variant,KRTAP10-2,MISSENSE,NM_198693.2:p.Pro177Leu/c.530C>T,cCg/cTg,MODERATE,COSM3766662(3),0.547524,0.371,rs2329834,0.16(T),0.009(B),3.245(M),-1.0348(T),,chr21,45970812,45970812,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro177Leu/c.530C>T|255|KRTAP10-2|protein_coding|CODING|NM_198693.2|1|1),intron_variant(MODIFIER|||c.99+16857C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.303+16857C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","NHEK:CTCF,GM06990:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,NHEK:DNase1",,,,0.7025,0.5735,0.6163,0.58,0.48,0.63,,,1.000(P),5.04(T),0.0000(T),0.034,-0.575612,2.98,-1.58,-4.721000,-0.221000,-0.958000,0.000000,0.000000,0.000000,3.9041
missense_variant,KRTAP10-3,MISSENSE,NM_198696.2:p.Cys170Tyr/c.509G>A,tGc/tAc,MODERATE,COSM4134989(2),0.86901,0.7649,rs233252,0.24(T),0.006(B),3.015(M),-1.0052(T),,chr21,45978090,45978090,C,T,hom,"missense_variant(MODERATE|MISSENSE|tGc/tAc|p.Cys170Tyr/c.509G>A|221|KRTAP10-3|protein_coding|CODING|NM_198696.2|1|1),intron_variant(MODIFIER|||c.99+9579G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.303+9579G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.865,0.8473,0.9563,0.93,0.89,0.95,,,0.000(P),4.15(T),0.0000(T),0.066,1.006368,3.36,0.176,-0.940000,-0.021000,0.052000,0.001000,0.559000,0.968000,7.1537
synonymous_variant,KRTAP10-3,SILENT,NM_198696.2:p.Cys37Cys/c.111C>T,tgC/tgT,LOW,COSM3758934(4),0.252995,0.128,rs12483390,,,,,,chr21,45978488,45978488,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys37Cys/c.111C>T|221|KRTAP10-3|protein_coding|CODING|NM_198696.2|1|1),intron_variant(MODIFIER|||c.99+9181C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.303+9181C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.3978,0.2363,0.4642,0.35,0.13,0.46,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-3,MISSENSE,NM_198696.2:p.Thr34Pro/c.100A>C,Acc/Ccc,MODERATE,COSM4134990(2),0.869209,0.754,rs377549,1(T),0.0(B),-1.45(N),-1.0162(T),,chr21,45978499,45978499,T,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr34Pro/c.100A>C|221|KRTAP10-3|protein_coding|CODING|NM_198696.2|1|1),intron_variant(MODIFIER|||c.99+9170A>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.303+9170A>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8559,0.9563,0.93,0.88,0.95,,,0.118(P),3.49(T),0.0000(T),0.084,-2.379653,3.24,1.18,-0.224000,0.222000,0.619000,0.067000,0.377000,0.975000,1.5336
synonymous_variant,KRTAP10-3,SILENT,NM_198696.2:p.Cys32Cys/c.96C>T,tgC/tgT,LOW,COSM4134991(2),0.868011,0.753,rs435424,,,,,,chr21,45978503,45978503,G,A,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys32Cys/c.96C>T|221|KRTAP10-3|protein_coding|CODING|NM_198696.2|1|1),intron_variant(MODIFIER|||c.99+9166C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|3|1),intron_variant(MODIFIER|||c.303+9166C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|2|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8845,0.8545,0.9563,0.93,0.88,0.95,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-4,MISSENSE,NM_198687.2:p.Arg62Cys/c.184C>T,Cgt/Tgt,MODERATE,COSM4134992(3),0.477835,0.3968,rs233285,1(T),0.0(B),-2.275(N),-0.9892(T),,chr21,45993819,45993819,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgt/Tgt|p.Arg62Cys/c.184C>T|401|KRTAP10-4|protein_coding|CODING|NM_198687.2|1|1),intron_variant(MODIFIER|||c.-122-5930G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-5930G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3",,,,0.59,0.4726,0.6789,,,,,,0.000(P),2.99(T),0.0000(T),0.212,-1.404339,3.29,2.1,-0.539000,0.291000,-0.057000,0.402000,0.927000,0.003000,6.0377
missense_variant,KRTAP10-6,MISSENSE,NM_198688.3:p.Pro300Ser/c.898C>T,Ccc/Tcc,MODERATE,COSM4134998(2),0.501997,0.4435,rs465279,0.02(D),1.0(D),1.795(L),-1.1463(T),,chr21,46011468,46011468,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro300Ser/c.898C>T|365|KRTAP10-6|protein_coding|CODING|NM_198688.3|1|1),intron_variant(MODIFIER|||c.-122-23579C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-23579C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5971,0.6311,0.7286,0.56,0.30,0.70,,,0.000(P),4.58(T),0.0000(T),0.15,1.800987,2.7,2.7,0.194000,1.520000,.,0.184000,0.999000,.,11.1673
stop_gained,KRTAP10-6,NONSENSE,NM_198688.3:p.Cys261*/c.783C>A,tgC/tgA,HIGH,COSM4002053(2),0.216254,0.3214,rs233303,1(T),,,,,chr21,46011583,46011583,G,T,het,"stop_gained(HIGH|NONSENSE|tgC/tgA|p.Cys261*/c.783C>A|365|KRTAP10-6|protein_coding|CODING|NM_198688.3|1|1),intron_variant(MODIFIER|||c.-122-23694C>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-23694C>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1933,0.2248,0.2107,0.22,0.16,0.24,,,0.000(P),,,.,1.542055,2.61,-0.354,0.400000,0.012000,-0.199000,0.249000,0.039000,0.015000,6.1164
synonymous_variant,KRTAP10-6,SILENT,NM_198688.3:p.Cys42Cys/c.126T>C,tgT/tgC,LOW,COSM4135003(2),,,rs543542,,,,,,chr21,46012240,46012240,A,G,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys42Cys/c.126T>C|365|KRTAP10-6|protein_coding|CODING|NM_198688.3|1|1),intron_variant(MODIFIER|||c.-122-24351T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-24351T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP10-7,SILENT,NM_198689.2:p.Ala2Ala/c.6C>T,gcC/gcT,LOW,,0.787939,0.8264,rs1211103,,,,,,chr21,46020527,46020527,C,T,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala2Ala/c.6C>T|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|1|1),intron_variant(MODIFIER|||c.-122-32638G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-32638G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.7822,0.9179,0.9354,0.84,0.64,0.94,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP10-7,SILENT,NM_198689.2:p.Ser184Ser/c.552C>T,agC/agT,LOW,COSM4135013(1),,,rs388827,,,,,,chr21,46021088,46021088,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser184Ser/c.552C>T|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33199G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33199G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-7,MISSENSE,NM_198689.2:p.Gln215Lys/c.643C>A,Cag/Aag,MODERATE,,0.774561,0.8234,rs363877,0.17(T),0.298(B),3.32(M),-1.0454(T),,chr21,46021179,46021179,C,A,hom,"missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln215Lys/c.643C>A|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33290G>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33290G>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,,,0.7771,0.9121,0.9354,,,,,,0.000(P),4.8(T),0.0000(T),0.315,1.171010,3.75,2.77,0.454000,1.804000,0.149000,0.180000,0.994000,0.196000,8.9065
synonymous_variant,KRTAP10-7,SILENT,NM_198689.2:p.Pro223Pro/c.669C>T,ccC/ccT,LOW,COSM4135015(2),0.776558,0.8234,rs389167,,,,,,chr21,46021205,46021205,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro223Pro/c.669C>T|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33316G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33316G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,,,0.7812,0.9135,0.9354,0.82,0.60,0.94,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP10-7,SILENT,NM_198689.2:p.Pro278Pro/c.834T>C,ccT/ccC,LOW,COSM4135017(1),0.777756,0.8254,rs437149,,,,,,chr21,46021370,46021370,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro278Pro/c.834T>C|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33481A>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33481A>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,,,0.7812,0.9135,0.9354,0.83,0.61,0.94,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-7,MISSENSE,NM_198689.2:p.Ser285Thr/c.854G>C,aGt/aCt,MODERATE,COSM4135019(1),0.777756,0.8254,rs446817,0.48(T),0.001(B),1.975(M),-0.9653(T),,chr21,46021390,46021390,G,C,hom,"missense_variant(MODERATE|MISSENSE|aGt/aCt|p.Ser285Thr/c.854G>C|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33501C>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33501C>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","NHEK:CTCF,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,H1ESC:CTCF",,,,0.7812,0.9135,0.9354,0.82,0.60,0.94,,,1.000(P),5.83(T),0.0000(T),0.181,0.386751,3.28,2.35,-0.477000,0.505000,0.038000,0.498000,0.361000,0.000000,4.2232
synonymous_variant,KRTAP10-7,SILENT,NM_198689.2:p.Pro315Pro/c.945T>C,ccT/ccC,LOW,,0.777955,0.8244,rs437334,,,,,,chr21,46021481,46021481,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro315Pro/c.945T>C|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33592A>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33592A>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.7822,0.915,0.9354,0.80,0.55,0.92,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-7,MISSENSE,NM_198689.2:p.Thr320Ala/c.958A>G,Acc/Gcc,MODERATE,,0.778754,0.8254,rs369720,1(T),0.0(B),-0.095(N),-1.0013(T),,chr21,46021494,46021494,A,G,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr320Ala/c.958A>G|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33605T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33605T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.7822,0.9135,0.9354,0.81,0.58,0.93,,,0.000(P),4.98(T),0.0000(T),0.083,0.111759,3.89,2.97,-0.349000,0.767000,0.111000,0.051000,0.711000,0.063000,8.7287
synonymous_variant,KRTAP10-7,SILENT,NM_198689.2:p.Pro357Pro/c.1071A>G,ccA/ccG,LOW,COSM4135021(1),0.777157,0.8254,rs370092,,,,,,chr21,46021607,46021607,A,G,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro357Pro/c.1071A>G|370|KRTAP10-7|protein_coding|CODING|NM_198689.2|2|1),intron_variant(MODIFIER|||c.-122-33718T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-33718T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.7822,0.915,0.9364,0.83,0.61,0.94,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-8,MISSENSE,NM_198695.2:p.His26Arg/c.77A>G,cAt/cGt,MODERATE,COSM4135022(2),0.901158,0.8185,rs411254,0.26(T),0.0(B),-0.345(N),-1.0416(T),,chr21,46032094,46032094,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His26Arg/c.77A>G|259|KRTAP10-8|protein_coding|CODING|NM_198695.2|1|1),intron_variant(MODIFIER|||c.-122-44205T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-44205T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:H3K79me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8497,0.9524,0.9503,0.94,0.94,0.94,,,1.000(P),4.08(T),0.0000(T),0.029,-1.295384,3.75,-4.73,-0.971000,-2.039000,-0.595000,0.009000,0.017000,0.000000,11.4339
synonymous_variant,KRTAP10-9,SILENT,NM_198690.2:p.Cys110Cys/c.330C>T,tgC/tgT,LOW,COSM4135024(1),0.787141,0.6746,rs8126553,,,,,,chr21,46047418,46047418,C,T,het,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys110Cys/c.330C>T|292|KRTAP10-9|protein_coding|CODING|NM_198690.2|1|1),intron_variant(MODIFIER|||c.-122-59529G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-59529G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)",HepG2:H3K27me3,,,,0.7802,0.745,0.7714,0.78,0.89,0.72,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-9,MISSENSE,NM_198690.2:p.Tyr182Cys/c.545A>G,tAc/tGc,MODERATE,,0.637181,0.6667,rs8127342,,0.0(B),-4.235(N),-0.9789(T),,chr21,46047633,46047633,A,G,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr182Cys/c.545A>G|292|KRTAP10-9|protein_coding|CODING|NM_198690.2|1|1),intron_variant(MODIFIER|||c.-122-59744T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-59744T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:H3K18ac,CD4:H2BK5me1,HepG2:H3K27me3",,,,0.6524,0.6772,0.7167,0.63,0.53,0.68,,,0.999(P),5.72(T),0.0000(T),0.042,-2.837910,3.45,1.28,-0.176000,0.092000,0.351000,0.010000,0.004000,0.001000,6.7087
synonymous_variant,KRTAP10-9,SILENT,NM_198690.2:p.Leu208Leu/c.622T>C,Ttg/Ctg,LOW,,0.648163,0.6637,rs8131142,,,,,,chr21,46047710,46047710,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu208Leu/c.622T>C|292|KRTAP10-9|protein_coding|CODING|NM_198690.2|1|1),intron_variant(MODIFIER|||c.-122-59821A>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-59821A>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:H3K18ac,CD4:H2BK5me1,HepG2:H3K27me3",,,,0.6503,0.6787,0.7107,0.64,0.57,0.67,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-9,MISSENSE,NM_198690.2:p.Arg257Cys/c.769C>T,Cgc/Tgc,MODERATE,COSM4135025(1),0.626597,0.6488,rs9980129,,0.023(B),-2.465(N),-1.0799(T),,chr21,46047857,46047857,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg257Cys/c.769C>T|292|KRTAP10-9|protein_coding|CODING|NM_198690.2|1|1),intron_variant(MODIFIER|||c.-122-59968G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-59968G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:H3K18ac,CD4:H2BK5me1,HepG2:H3K27me3",,,,0.6483,0.6744,0.7068,0.62,0.53,0.67,,,0.000(P),6.06(T),0.0000(T),0.136,-1.322386,2.6,1.24,-0.360000,0.229000,0.165000,0.734000,0.997000,0.190000,3.9932
synonymous_variant,KRTAP10-9,SILENT,NM_198690.2:p.Pro279Pro/c.837G>T,ccG/ccT,LOW,,0.632788,0.6627,rs9979457,,,,,,chr21,46047925,46047925,G,T,het,"synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro279Pro/c.837G>T|292|KRTAP10-9|protein_coding|CODING|NM_198690.2|1|1),intron_variant(MODIFIER|||c.-122-60036C>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-60036C>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:H3K18ac,HepG2:H3K27me3",,,,0.6452,0.6715,0.7107,0.63,0.54,0.68,,,,,,,,,,,,,,,,
synonymous_variant,KRTAP10-10,SILENT,NM_181688.2:p.Val19Val/c.57A>G,gtA/gtG,LOW,COSM4135026(2),0.38738,0.3115,rs9306108,,,,,,chr21,46057391,46057391,A,G,het,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val19Val/c.57A>G|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+53069T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69502T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5706,0.2651,0.3827,0.34,0.34,0.34,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-10,MISSENSE,NM_181688.2:p.Val20Asp/c.59T>A,gTc/gAc,MODERATE,COSM4135027(3),0.781749,0.6468,rs2838602,1(T),0.0(B),-2.21(N),-1.0382(T),,chr21,46057393,46057393,T,A,het,"missense_variant(MODERATE|MISSENSE|gTc/gAc|p.Val20Asp/c.59T>A|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+53067A>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69504A>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7751,0.745,0.7694,0.77,0.88,0.71,,,0.000(P),4.18(T),0.0000(T),0.113,-2.111369,3.52,3.52,-0.522000,0.357000,0.966000,0.104000,0.998000,0.166000,3.1103
missense_variant,KRTAP10-10,MISSENSE,NM_181688.2:p.Glu28Ala/c.83A>C,gAg/gCg,MODERATE,COSM3766668(4),0.288339,0.253,rs114653592,0.15(T),0.287(B),2.23(M),-0.9565(T),,chr21,46057417,46057417,A,C,het,"missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu28Ala/c.83A>C|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+53043T>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69528T>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4335,0.2075,0.3101,0.08,0.06,0.08,,,0.000(P),2.48(T),0.0000(T),0.187,1.742087,3.52,3.52,0.383000,1.358000,1.008000,0.009000,0.987000,0.642000,10.2769
missense_variant,KRTAP10-10,MISSENSE,NM_181688.2:p.Glu28Asp/c.84G>C,gaG/gaC,MODERATE,COSM4004824(2),0.288339,0.253,rs116673061,0.04(D),0.355(B),2.925(M),-1.0137(T),,chr21,46057418,46057418,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu28Asp/c.84G>C|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+53042C>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69529C>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4335,0.2075,0.3101,,,,,,0.000(P),2.53(T),0.0000(T),0.321,1.696515,3.52,2.6,0.467000,1.661000,1.085000,0.010000,0.995000,0.638000,8.1233
missense_variant,KRTAP10-10,MISSENSE,NM_181688.2:p.Cys30Ser/c.88T>A,Tgc/Agc,MODERATE,COSM1414428(3),0.290136,0.253,rs112205018,0.9(T),0.005(B),-0.76(N),-0.9226(T),,chr21,46057422,46057422,T,A,het,"missense_variant(MODERATE|MISSENSE|Tgc/Agc|p.Cys30Ser/c.88T>A|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+53038A>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69533A>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.4427,0.2075,0.3101,,,,,,0.000(P),2.93(T),0.0000(T),0.258,-2.351941,3.09,0.455,-0.407000,-0.062000,.,0.005000,0.910000,.,5.6129
missense_variant,KRTAP10-10,MISSENSE,NM_181688.2:p.Thr72Pro/c.214A>C,Acc/Ccc,MODERATE,,0.778355,0.6786,rs4818947,1(T),0.0(B),-2.45(N),-1.0610(T),,chr21,46057548,46057548,A,C,het,"missense_variant(MODERATE|MISSENSE|Acc/Ccc|p.Thr72Pro/c.214A>C|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+52912T>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69659T>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7822,0.7464,0.7704,0.77,0.86,0.72,,,1.000(P),5.48(T),0.0000(T),0.088,-2.957708,3.22,2.32,-0.352000,0.053000,.,0.001000,0.000000,.,4.095
missense_variant,KRTAP10-10,MISSENSE,NM_181688.2:p.Thr86Ser/c.256A>T,Acc/Tcc,MODERATE,COSM4002057(2),0.191294,0.2956,rs9306109,0.4(T),0.026(B),1.59(L),-0.9681(T),,chr21,46057590,46057590,A,T,het,"missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr86Ser/c.256A>T|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+52870T>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69701T>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2822,0.0735,0.1451,0.14,0.16,0.13,,,1.000(P),4.99(T),0.0000(T),0.073,0.463966,3.11,-2.5,0.383000,-0.213000,-0.170000,0.042000,0.193000,0.001000,5.492
missense_variant,KRTAP10-10,MISSENSE,NM_181688.2:p.Val158Met/c.472G>A,Gtg/Atg,MODERATE,COSM3758936(1),0.603435,0.6667,rs4818950,0.1(T),0.574(P),1.7(L),-1.0887(T),,chr21,46057806,46057806,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val158Met/c.472G>A|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+52654C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-69917C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6299,0.6671,0.6928,0.60,0.47,0.67,,,1.000(P),4.92(T),0.0000(T),0.036,-0.721876,3.13,-0.278,0.306000,-0.309000,-1.385000,0.011000,0.000000,0.000000,3.0811
synonymous_variant,KRTAP10-10,SILENT,NM_181688.2:p.Ser208Ser/c.624C>T,tcC/tcT,LOW,COSM4135029(1),0.640176,0.6687,rs4818951,,,,,,chr21,46057958,46057958,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser208Ser/c.624C>T|251|KRTAP10-10|protein_coding|CODING|NM_181688.2|1|1),intron_variant(MODIFIER|||c.-123+52502G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.83-70069G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7628,0.6931,0.7594,0.62,0.44,0.71,,,,,,,,,,,,,,,,
missense_variant,KRTAP10-11,MISSENSE,NM_198692.2:p.Ser130Phe/c.389C>T,tCt/tTt,MODERATE,,0.777356,0.6548,rs4818952,0(D),0.999(D),3.325(M),-1.1027(T),,chr21,46066764,46066764,C,T,het,"missense_variant(MODERATE|MISSENSE|tCt/tTt|p.Ser130Phe/c.389C>T|298|KRTAP10-11|protein_coding|CODING|NM_198692.2|1|1),intron_variant(MODIFIER|||c.-123+43696G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+64584G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:H3K18ac,GM06990:H3K27me3,GM12878:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.7802,0.7493,0.7694,0.77,0.87,0.72,,,0.000(P),4.52(T),0.0000(T),0.233,1.790471,3.32,3.32,0.456000,1.583000,0.618000,0.496000,0.358000,0.002000,10.528
missense_variant,KRTAP10-11,MISSENSE,NM_198692.2:p.Arg269Cys/c.805C>T,Cgc/Tgc,MODERATE,COSM3758937(1),0.816094,0.6796,rs462007,0.06(T),0.895(P),1.955(M),-0.9393(T),,chr21,46067180,46067180,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg269Cys/c.805C>T|298|KRTAP10-11|protein_coding|CODING|NM_198692.2|1|1),intron_variant(MODIFIER|||c.-123+43280G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+64168G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7485,0.7954,0.8062,0.84,0.96,0.78,,,0.001(P),5.85(T),0.0000(T),0.125,0.877898,3.93,3.04,-1.295000,0.187000,-1.248000,0.053000,0.334000,0.000000,6.258
synonymous_variant,KRTAP12-4,SILENT,NM_198698.1:p.Thr110Thr/c.330T>C,acT/acC,LOW,COSM4135031(1),0.785144,0.6458,rs9984726,,,,,,chr21,46074202,46074202,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr110Thr/c.330T>C|112|KRTAP12-4|protein_coding|CODING|NM_198698.1|1|1),intron_variant(MODIFIER|||c.-123+36258T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+57146T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:CBP,CD4:DNase1,CD4:H2BK20ac,NHEK:H3K27me3,CD4:H3K4me1,CD4:H3K4ac,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7965,0.7493,0.7624,0.77,0.90,0.71,,,,,,,,,,,,,,,,
missense_variant,KRTAP12-3,MISSENSE,NM_198697.2:p.His17Arg/c.50A>G,cAc/cGc,MODERATE,COSM3722325(1),0.789537,0.6637,rs9306111,0.06(T),0.0(B),,-1.0706(T),,chr21,46077946,46077946,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His17Arg/c.50A>G|96|KRTAP12-3|protein_coding|CODING|NM_198697.2|1|1),intron_variant(MODIFIER|||c.-123+32514T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+53402T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,CD4:H2BK20ac,CD4:H3K27ac,CD4:H2BK5me1,NHEK:H3K27me3,CD4:H3K36ac,CD4:H3K4me1,HeLa-S3:H3K27me3,CD4:H3K4ac,CD4:PolII,CD4:H2BK120ac,HepG2:H3K27me3,CD4:H2BK12ac",,,,0.7986,0.7507,0.7624,0.77,0.89,0.71,,,0.921(P),5.03(T),0.0000(T),0.03,0.155633,4.9,3.03,-2.261000,0.116000,-0.359000,0.028000,0.022000,0.000000,3.3378
missense_variant,KRTAP12-2,MISSENSE,NM_181684.2:p.Ser143Pro/c.427T>C,Tct/Cct,MODERATE,,0.582668,0.5655,rs2838622,1(T),0.0(B),-1.59(N),-1.0425(T),,chr21,46086377,46086377,A,G,het,"missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser143Pro/c.427T>C|146|KRTAP12-2|protein_coding|CODING|NM_181684.2|1|1),intron_variant(MODIFIER|||c.-123+24083T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+44971T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.5695,0.5403,0.492,0.53,0.68,0.46,,,1.000(P),4.47(T),0.0000(T),0.034,-2.494097,3.62,1.78,-0.355000,-0.049000,-0.301000,0.008000,0.002000,0.003000,5.8109
missense_variant,KRTAP12-2,MISSENSE,NM_181684.2:p.Ser29Cys/c.86C>G,tCc/tGc,MODERATE,COSM4135034(1),0.613019,0.5675,rs7275281,0.46(T),0.665(P),-0.735(N),-0.9756(T),,chr21,46086718,46086718,G,C,het,"missense_variant(MODERATE|MISSENSE|tCc/tGc|p.Ser29Cys/c.86C>G|146|KRTAP12-2|protein_coding|CODING|NM_181684.2|1|1),intron_variant(MODIFIER|||c.-123+23742C>G|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+44630C>G|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.59,0.5807,0.5547,0.22,0.29,0.18,,,0.994(P),4.07(T),0.0000(T),0.095,0.456248,3.4,-2.73,0.462000,-1.078000,-0.386000,0.019000,0.000000,0.004000,3.0179
missense_variant,KRTAP12-2,MISSENSE,NM_181684.2:p.Ser29Pro/c.85T>C,Tcc/Ccc,MODERATE,COSM4135035(1),0.613019,0.5675,rs63164960,0.94(T),0.001(B),0.285(N),-0.9430(T),,chr21,46086719,46086719,A,G,het,"missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser29Pro/c.85T>C|146|KRTAP12-2|protein_coding|CODING|NM_181684.2|1|1),intron_variant(MODIFIER|||c.-123+23741T>C|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+44629T>C|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.59,0.5807,0.5547,0.21,0.28,0.18,,,1.000(P),4.03(T),0.0000(T),0.04,-0.481680,3.4,-6.8,-2.692000,-4.007000,-4.335000,0.001000,0.000000,0.000000,1.6096
missense_variant,KRTAP12-2,MISSENSE,NM_181684.2:p.Ala16Val/c.47C>T,gCg/gTg,MODERATE,COSM4135036(1),0.771565,0.6597,rs7275298,0.31(T),0.003(B),-1.17(N),-1.0707(T),,chr21,46086757,46086757,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala16Val/c.47C>T|146|KRTAP12-2|protein_coding|CODING|NM_181684.2|1|1),intron_variant(MODIFIER|||c.-123+23703C>T|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+44591C>T|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7904,0.7493,0.7634,0.75,0.84,0.71,,,1.000(P),4.06(T),0.0000(T),0.04,1.019523,2.82,-4.35,-1.896000,-1.420000,-0.534000,0.007000,0.000000,0.000000,6.4392
missense_variant,KRTAP12-2,MISSENSE,NM_181684.2:p.Ala16Thr/c.46G>A,Gcg/Acg,MODERATE,COSM4135037(1),0.771166,0.6597,rs13046903,0.31(T),0.005(B),-0.945(N),-1.1023(T),,chr21,46086758,46086758,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala16Thr/c.46G>A|146|KRTAP12-2|protein_coding|CODING|NM_181684.2|1|1),intron_variant(MODIFIER|||c.-123+23702G>A|601|TSPEAR|protein_coding|CODING|NM_001272037.1|2|1),intron_variant(MODIFIER|||c.82+44590G>A|669|TSPEAR|protein_coding|CODING|NM_144991.2|1|1)","HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.7894,0.7493,0.7624,0.75,0.84,0.70,,,1.000(P),4.08(T),0.0000(T),0.011,0.584458,2.82,-0.954,-1.898000,-0.448000,-4.558000,0.006000,0.000000,0.000000,9.9651
missense_variant,SUMO3,MISSENSE,NM_001286416.1:p.Leu60Val/c.178C>G,Ctc/Gtc,MODERATE,COSM3766670(1),0.145966,0.1002,rs13050872,0.19(T),0.001(B),,-0.9576(T),,chr21,46233863,46233863,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu60Val/c.178C>G|141|SUMO3|protein_coding|CODING|NM_001286416.1|2|1),intron_variant(MODIFIER|||c.150+28C>G|103|SUMO3|protein_coding|CODING|NM_006936.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2342,0.1239,0.2992,0.23,0.06,0.32,,,1.000(P),1.42(T),0.0000(T),0.051,-0.897461,1.29,-2.57,-0.786000,-2.112000,-0.034000,0.003000,0.000000,0.000000,1.8991
missense_variant,PTTG1IP,MISSENSE,NM_001286822.1:p.Ala87Thr/c.259G>A,Gct/Act,MODERATE,COSM4002061(2),0.434704,0.377,rs235314,0.56(T),0.001(B),,-0.9107(T),,chr21,46271452,46271452,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala87Thr/c.259G>A|142|PTTG1IP|protein_coding|CODING|NM_001286822.1|3|1),3_prime_UTR_variant(MODIFIER||44|c.*44G>A|180|PTTG1IP|protein_coding|CODING|NM_004339.3|6|1),non_coding_exon_variant(MODIFIER|||n.765G>A||PTTG1IP||CODING|NR_104597.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,HepG2:USF1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6145,0.3285,0.5328,0.48,0.38,0.53,,,1.000(P),0.94(T),0.0000(T),0.045,2.364568,2.44,-3.16,-1.306000,-0.795000,-1.057000,0.001000,0.000000,0.000000,7.4156
synonymous_variant,ITGB2,SILENT,NM_000211.3:p.Val441Val/c.1323T>C,gtT/gtC,LOW,COSM3766671(1),0.762979,0.75,rs235326,,,,,,chr21,46311813,46311813,A,G,hom,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val441Val/c.1323T>C|769|ITGB2|protein_coding|CODING|NM_000211.3|11|1),synonymous_variant(LOW|SILENT|gtT/gtC|p.Val441Val/c.1323T>C|769|ITGB2|protein_coding|CODING|NM_001127491.1|11|1)","GM12878:H3K36me3,CD4:H4K20me1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.6431,0.6729,0.7008,0.75,0.91,0.67,,,,,,,,,,,,,,,,
missense_variant,ITGB2,MISSENSE,NM_000211.3:p.Gln354His/c.1062A>T,caA/caT,MODERATE,COSM4135040(1),1,1,rs235330,0.02(D),"0.098,0.575(B,P)",2.765(M),-0.9453(T),,chr21,46314907,46314907,T,A,hom,"missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln354His/c.1062A>T|769|ITGB2|protein_coding|CODING|NM_000211.3|9|1),missense_variant(MODERATE|MISSENSE|caA/caT|p.Gln354His/c.1062A>T|769|ITGB2|protein_coding|CODING|NM_001127491.1|9|1)","GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,RCV000087107.1,,1,1,1,1.00,1.00,1.00,,,0.000(P),"-4.56,-4.56,-4.56,-4.56,-4.56,-4.56(D,D,D,D,D,D)",0.0000(T),0.072,1.994936,5.28,1.13,-0.942000,0.227000,-0.934000,0.020000,0.930000,0.026000,3.0674
synonymous_variant,ADARB1,SILENT,NM_015833.3:p.Lys694Lys/c.2082G>A,aaG/aaA,LOW,COSM3758943(1),0.49401,0.5595,rs1051367,0.33(T),,,-0.9443(T),,chr21,46641968,46641968,G,A,hom,"synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys654Lys/c.1962G>A|674|ADARB1|protein_coding|CODING|NM_001160230.1|11|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys694Lys/c.2082G>A|714|ADARB1|protein_coding|CODING|NM_015834.3|12|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys654Lys/c.1962G>A|701|ADARB1|protein_coding|CODING|NM_001112.3|11|1),synonymous_variant(LOW|SILENT|aaG/aaA|p.Lys694Lys/c.2082G>A|741|ADARB1|protein_coding|CODING|NM_015833.3|12|1),non_coding_exon_variant(MODIFIER|||n.1462G>A||ADARB1||CODING|NR_027672.1|10|1),non_coding_exon_variant(MODIFIER|||n.2515G>A||ADARB1||CODING|NR_027673.1|12|1),non_coding_exon_variant(MODIFIER|||n.2397G>A||ADARB1||CODING|NR_027674.1|11|1),non_coding_exon_variant(MODIFIER|||n.2517G>A||ADARB1||CODING|NR_073200.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5092,0.464,0.5606,0.50,0.43,0.53,,,0.000(P),,0.0000(T),.,-0.186757,5.05,-2.64,-0.768000,-0.532000,0.686000,0.336000,0.362000,1.000000,11.1863
synonymous_variant,COL18A1,SILENT,NM_030582.3:p.His40His/c.120T>C,caT/caC,LOW,,0.988419,1,rs914230,,,,,,chr21,46875564,46875564,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His40His/c.120T>C|1516|COL18A1|protein_coding|CODING|NM_030582.3|1|1),intron_variant(MODIFIER|||c.107-12592T>C|1336|COL18A1|protein_coding|CODING|NM_130445.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:DNase1",,,,0.9898,0.9827,0.9662,0.97,0.99,0.96,,,,,,,,,,,,,,,,
missense_variant,COL18A1,MISSENSE,NM_030582.3:p.Ala1295Thr/c.3883G>A,Gca/Aca,MODERATE,COSM1196760(1),,,rs113268527,0.47(T),"0.391,0.188,0.271,0.165(B,B,B,B)",1.385(L),-0.2379(T),,chr21,46929372,46929372,G,A,het,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1295Thr/c.3883G>A|1516|COL18A1|protein_coding|CODING|NM_030582.3|39|1),missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala1115Thr/c.3343G>A|1336|COL18A1|protein_coding|CODING|NM_130445.2|40|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,0.01,0.00,0.01,,0.135600(N),1.000(D),"-2.66,-2.68,-2.58,-3.04(D,D,D,D)",0.5151(D),0.228,3.461361,4.28,2.2,0.542000,0.890000,0.352000,0.718000,0.986000,0.041000,6.5068
synonymous_variant,COL18A1,SILENT,NM_030582.3:p.Ala1326Ala/c.3978G>A,gcG/gcA,LOW,COSM3749754(8),0.503594,0.5744,rs1050351,,,,-1.0123(T),,chr21,46929467,46929467,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1326Ala/c.3978G>A|1516|COL18A1|protein_coding|CODING|NM_030582.3|39|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1146Ala/c.3438G>A|1336|COL18A1|protein_coding|CODING|NM_130445.2|40|1)","K562:ZBTB7A,H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.499,0.5331,0.4235,0.38,0.40,0.37,,,1.000(P),,0.0000(T),.,-0.897882,4.3,-8.61,-1.036000,-3.489000,-2.970000,0.001000,0.000000,0.000000,1.8031
synonymous_variant,COL18A1,SILENT,NM_030582.3:p.Ile1404Ile/c.4212C>T,atC/atT,LOW,,0.0203674,0.001,rs2838952,,,,-1.0808(T),,chr21,46930163,46930163,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile1404Ile/c.4212C>T|1516|COL18A1|protein_coding|CODING|NM_030582.3|40|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile1224Ile/c.3672C>T|1336|COL18A1|protein_coding|CODING|NM_130445.2|41|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0143,0.0908,0.0209,0.02,0.00,0.02,,,1.000(D),,0.0115(T),.,0.505868,4.7,-0.976,-0.768000,-0.446000,-2.960000,0.500000,0.983000,0.000000,10.3146
synonymous_variant,SLC19A1,SILENT,NM_194255.2:p.Pro232Pro/c.696T>C,ccT/ccC,LOW,COSM3758952(5),0.553115,0.4752,rs12659,,,,,,chr21,46951556,46951556,A,G,het,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro232Pro/c.696T>C|489|SLC19A1|protein_coding|CODING|NM_001205206.1|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro192Pro/c.576T>C|551|SLC19A1|protein_coding|CODING|NM_001205207.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro232Pro/c.696T>C|591|SLC19A1|protein_coding|CODING|NM_194255.2|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6503,0.5908,0.5557,0.57,0.56,0.58,,,,,,,,,,,,,,,,
missense_variant,SLC19A1,MISSENSE,NM_194255.2:p.His27Arg/c.80A>G,cAc/cGc,MODERATE,COSM1751689(4),0.488618,0.4742,rs1051266,0.37(T),"0.0,0.0,0.0(B,B,B)",-1.15(N),-0.9843(T),,chr21,46957794,46957794,T,C,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His27Arg/c.80A>G|489|SLC19A1|protein_coding|CODING|NM_001205206.1|2|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His27Arg/c.80A>G|591|SLC19A1|protein_coding|CODING|NM_194255.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5941,0.5821,0.5487,0.51,0.39,0.57,,0.403225(N),0.006(P),"-1.39,-1.39,0.36,0.36,-1.95(T,T,T,T,D)",0.0000(T),0.389,0.019156,3.85,2.77,-0.197000,0.766000,1.608000,0.036000,0.164000,0.827000,4.7202
synonymous_variant,PCBP3,SILENT,NM_020528.2:p.Cys141Cys/c.423T>C,tgT/tgC,LOW,COSM3758953(1),0.88139,0.997,rs2277812,,,,,,chr21,47329352,47329352,T,C,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys141Cys/c.423T>C|345|PCBP3|protein_coding|CODING|NM_001130141.1|6|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys141Cys/c.423T>C|371|PCBP3|protein_coding|CODING|NM_020528.2|6|1)","GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,0.8957,0.8098,0.7068,0.77,0.93,0.69,,,,,,,,,,,,,,,,
synonymous_variant,COL6A1,SILENT,NM_001848.2:p.Gly365Gly/c.1095T>C,ggT/ggC,LOW,COSM3758956(2),0.544928,0.3333,rs1980982,,,,,,chr21,47410931,47410931,T,C,het,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly365Gly/c.1095T>C|1028|COL6A1|protein_coding|CODING|NM_001848.2|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079742.2,,0.5256,0.451,0.5298,0.62,0.75,0.56,,,,,,,,,,,,,,,,
missense_variant,COL6A1,MISSENSE,NM_001848.2:p.Arg850His/c.2549G>A,cGc/cAc,MODERATE,COSM3758957(3),0.270168,0.1339,rs1053312,0.15(T),0.002(B),0.345(N),-1.0246(T),,chr21,47423389,47423389,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg850His/c.2549G>A|1028|COL6A1|protein_coding|CODING|NM_001848.2|35|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079798.2,,0.1984,0.281,0.2724,0.34,0.40,0.31,,0.489117(N),0.996(P),-1.75(D),0.0000(T),0.056,3.755932,4.84,0.709,0.530000,0.063000,-0.001000,0.989000,0.992000,0.006000,3.4558
synonymous_variant,COL6A1,SILENT,NM_001848.2:p.Ala889Ala/c.2667G>A,gcG/gcA,LOW,COSM329269(4),0.268171,0.1379,rs1053315,,,,,,chr21,47423507,47423507,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala889Ala/c.2667G>A|1028|COL6A1|protein_coding|CODING|NM_001848.2|35|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079801.3,,0.1994,0.281,0.2734,0.34,0.39,0.31,,,,,,,,,,,,,,,,
synonymous_variant,COL6A1,SILENT,NM_001848.2:p.Ser932Ser/c.2796C>T,tcC/tcT,LOW,COSM444608(2),0.264177,0.1329,rs1053320,,,,,,chr21,47423636,47423636,C,T,het,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser932Ser/c.2796C>T|1028|COL6A1|protein_coding|CODING|NM_001848.2|35|1),"H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079807.2,,0.183,0.2752,0.2555,0.33,0.40,0.29,,,,,,,,,,,,,,,,
missense_variant,COL6A2,MISSENSE,NM_001849.3:p.Ser399Asn/c.1196G>A,aGt/aAt,MODERATE,COSM3758958(2),0.705272,0.874,rs2839110,0.56(T),"0.001,0.0,0.0(B,B,B)",0.45(N),-0.9673(T),,chr21,47538960,47538960,G,A,hom,"missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser399Asn/c.1196G>A|1019|COL6A2|protein_coding|CODING|NM_001849.3|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser399Asn/c.1196G>A|918|COL6A2|protein_coding|CODING|NM_058174.2|14|1),missense_variant(MODERATE|MISSENSE|aGt/aAt|p.Ser399Asn/c.1196G>A|828|COL6A2|protein_coding|CODING|NM_058175.2|14|1)","H1ESC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000079842.2,,0.5501,0.8804,0.83,0.73,0.54,0.83,,0.050308(N),1.000(P),"-3.24,-3.24,-3.24,-3.24,-3.24(D,D,D,D,D)",0.0000(T),0.044,0.124319,4.57,0.703,-0.332000,-0.153000,0.361000,0.203000,0.683000,0.027000,5.8733
missense_variant,COL6A2,MISSENSE,NM_001849.3:p.Arg680His/c.2039G>A,cGt/cAt,MODERATE,COSM3758963(2),0.39397,0.4306,rs1042917,0.09(T),"0.982,0.871,0.784(D,P,P)",1.39(L),-0.8544(T),,chr21,47545768,47545768,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg680His/c.2039G>A|1019|COL6A2|protein_coding|CODING|NM_001849.3|26|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg680His/c.2039G>A|918|COL6A2|protein_coding|CODING|NM_058174.2|26|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg680His/c.2039G>A|828|COL6A2|protein_coding|CODING|NM_058175.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079868.2,,0.3139,0.6398,0.5099,0.41,0.24,0.50,,0.000030(D),0.000(P),"-1.15,-1.15,-1.15,-1.15,-1.15,-1.15(T,T,T,T,T,T)",0.0000(T),0.385,2.613296,4.4,4.4,0.491000,1.998000,4.764000,0.638000,0.998000,1.000000,16.9942
synonymous_variant,COL6A2,SILENT,NM_001849.3:p.Ala698Ala/c.2094G>A,gcG/gcA,LOW,COSM3758965(1),0.394169,0.4306,rs13052956,,,,,,chr21,47545823,47545823,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala698Ala/c.2094G>A|1019|COL6A2|protein_coding|CODING|NM_001849.3|26|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala698Ala/c.2094G>A|918|COL6A2|protein_coding|CODING|NM_058174.2|26|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala698Ala/c.2094G>A|828|COL6A2|protein_coding|CODING|NM_058175.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079869.2,,0.3139,0.6398,0.5109,0.41,0.24,0.50,,,,,,,,,,,,,,,,
synonymous_variant,COL6A2,SILENT,NM_001849.3:p.Gly699Gly/c.2097C>T,ggC/ggT,LOW,COSM3758968(2),0.39397,0.4306,rs13046639,,,,,,chr21,47545826,47545826,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly699Gly/c.2097C>T|1019|COL6A2|protein_coding|CODING|NM_001849.3|26|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly699Gly/c.2097C>T|918|COL6A2|protein_coding|CODING|NM_058174.2|26|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly699Gly/c.2097C>T|828|COL6A2|protein_coding|CODING|NM_058175.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079870.2,,0.3139,0.6383,0.5109,0.41,0.24,0.50,,,,,,,,,,,,,,,,
synonymous_variant,COL6A2,SILENT,NM_001849.3:p.Val728Val/c.2184G>A,gtG/gtA,LOW,COSM3758972(2),0.322085,0.4226,rs2839114,,,,,,chr21,47545913,47545913,G,A,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val728Val/c.2184G>A|1019|COL6A2|protein_coding|CODING|NM_001849.3|26|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val728Val/c.2184G>A|918|COL6A2|protein_coding|CODING|NM_058174.2|26|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val728Val/c.2184G>A|828|COL6A2|protein_coding|CODING|NM_058175.2|26|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3",,RCV000079875.2,,0.2812,0.5548,0.3837,0.29,0.13,0.37,,,,,,,,,,,,,,,,
synonymous_variant,COL6A2,SILENT,NM_001849.3:p.Arg993Arg/c.2979C>T,cgC/cgT,LOW,COSM3721324(2),0.0924521,0.0288,rs386604137,,,,,,chr21,47552385,47552385,C,T,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg993Arg/c.2979C>T|1019|COL6A2|protein_coding|CODING|NM_001849.3|28|1),"IMR90:H3K36me3,K562:H3K27me3",,RCV000079889.2,,0.0665,0.0749,0.1978,0.17,0.11,0.20,,,,,,,,,,,,,,,,
synonymous_variant,FTCD,SILENT,NM_006657.2:p.Ala464Ala/c.1392C>G,gcC/gcG,LOW,COSM3758974(6),0.48103,0.4296,rs1047179,,0.0(B),,-0.9479(T),,chr21,47558473,47558473,G,C,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala464Ala/c.1392C>G|541|FTCD|protein_coding|CODING|NM_006657.2|12|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala464Ala/c.1392C>G|541|FTCD|protein_coding|CODING|NM_206965.1|12|1)","GM12878:H3K36me3,H1ESC:DNase1,HepG2:PolII,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000081448.1,,0.3466,0.6599,0.4771,0.47,0.50,0.46,,,1.000(P),"-1.75,-1.75(D,D)",0.0000(T),.,-2.731311,4.23,-6.55,-2.002000,-1.536000,-2.827000,0.003000,0.020000,0.000000,3.3951
missense_variant,FTCD,MISSENSE,NM_006657.2:p.Ala438Val/c.1313C>T,gCg/gTg,MODERATE,COSM3758976(4),0.0289537,0.0069,rs61735841,0.17(T),"0.027,0.067(B,B)",1.735(L),-1.1522(T),,chr21,47558552,47558552,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala438Val/c.1313C>T|541|FTCD|protein_coding|CODING|NM_006657.2|12|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala438Val/c.1313C>T|541|FTCD|protein_coding|CODING|NM_206965.1|12|1)","GM12878:H3K36me3,H1ESC:DNase1,HepG2:PolII,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3",,RCV000081447.1,,0.0102,0.0331,0.0954,0.07,0.02,0.10,,0.022944(N),1.000(D),"0.83,0.83,0.83,0.83(T,T,T,T)",0.0039(T),0.142,1.998345,4.39,3.47,0.557000,0.913000,1.492000,0.014000,0.002000,0.546000,9.6865
synonymous_variant,SPATC1L,SILENT,NM_001142854.1:p.Gly4Gly/c.12C>T,ggC/ggT,LOW,COSM3991995(2),0.0748802,0.002,rs55819909,,,,,,chr21,47602719,47602719,G,A,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly4Gly/c.12C>T|340|SPATC1L|protein_coding|CODING|NM_001142854.1|2|1),intron_variant(MODIFIER|||c.-270+1551C>T|186|SPATC1L|protein_coding|CODING|NM_032261.4|1|1)","H1ESC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3",,,,0.0215,0.0403,0.1044,,,,,,,,,,,,,,,,,,,
missense_variant,LSS,MISSENSE,NM_001001438.2:p.Leu642Val/c.1924T>G,Ttg/Gtg,MODERATE,COSM444622(3),0.732228,0.6875,rs2254524,,,-2.365(N),-0.9953(T),,chr21,47614469,47614469,A,C,hom,"missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu642Val/c.1924T>G|732|LSS|protein_coding|CODING|NM_001001438.2|20|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu631Val/c.1891T>G|721|LSS|protein_coding|CODING|NM_001145436.1|20|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu562Val/c.1684T>G|652|LSS|protein_coding|CODING|NM_001145437.1|19|1),missense_variant(MODERATE|MISSENSE|Ttg/Gtg|p.Leu642Val/c.1924T>G|732|LSS|protein_coding|CODING|NM_002340.5|20|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6677,0.5821,0.6809,0.74,0.89,0.67,,,1.000(P),,0.0000(T),.,-0.136198,5.07,3.26,-0.121000,0.275000,2.308000,0.148000,0.227000,0.966000,7.8607
missense_variant,LSS,MISSENSE,NM_001001438.2:p.His310Arg/c.929A>G,cAc/cGc,MODERATE,COSM444623(2),0.117412,0.0833,rs34115287,0.35(T),"0.0,0.0(B,B)",-1.24(N),-1.0215(T),,chr21,47635176,47635176,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His310Arg/c.929A>G|732|LSS|protein_coding|CODING|NM_001001438.2|9|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His299Arg/c.896A>G|721|LSS|protein_coding|CODING|NM_001145436.1|9|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His230Arg/c.689A>G|652|LSS|protein_coding|CODING|NM_001145437.1|8|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His310Arg/c.929A>G|732|LSS|protein_coding|CODING|NM_002340.5|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.0951,0.1889,0.15,0.13,0.17,,0.276282(N),1.000(P),"1.61,1.61,1.61,1.61(T,T,T,T)",0.0000(T),0.025,-0.941611,5.52,1.51,-0.384000,0.001000,-0.050000,0.054000,0.278000,0.000000,1.8576
synonymous_variant,LSS,SILENT,NM_001001438.2:p.Pro288Pro/c.864G>C,ccG/ccC,LOW,COSM3758985(2),0.361022,0.127,rs9980968,,,,,,chr21,47635627,47635627,C,G,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro288Pro/c.864G>C|732|LSS|protein_coding|CODING|NM_001001438.2|8|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro277Pro/c.831G>C|721|LSS|protein_coding|CODING|NM_001145436.1|8|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro208Pro/c.624G>C|652|LSS|protein_coding|CODING|NM_001145437.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro288Pro/c.864G>C|732|LSS|protein_coding|CODING|NM_002340.5|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.453,0.2781,0.4235,0.41,0.44,0.40,,,,,,,,,,,,,,,,
missense_variant,LSS,MISSENSE,NM_001001438.2:p.Arg175Gln/c.524G>A,cGa/cAa,MODERATE,COSM4135100(1),0.121206,0.0833,rs2839158,0.04(D),"0.092,0.043(B,B)",2.18(M),-1.0418(T),,chr21,47641794,47641794,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg175Gln/c.524G>A|732|LSS|protein_coding|CODING|NM_001001438.2|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg164Gln/c.491G>A|721|LSS|protein_coding|CODING|NM_001145436.1|5|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg95Gln/c.284G>A|652|LSS|protein_coding|CODING|NM_001145437.1|4|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg175Gln/c.524G>A|732|LSS|protein_coding|CODING|NM_002340.5|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.0965,0.1879,0.16,0.14,0.17,,0.000032(D),0.000(P),"1.1,1.1,1.1,1.1,1.1(T,T,T,T,T)",0.0002(T),0.75,4.203594,4.58,4.58,0.643000,2.261000,5.859000,0.712000,0.984000,1.000000,17.3189
synonymous_variant,LSS,SILENT,NM_001001438.2:p.Ala121Ala/c.363C>T,gcC/gcT,LOW,COSM4135101(1),0.122804,0.0923,rs11558754,,,,,,chr21,47642609,47642609,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala121Ala/c.363C>T|732|LSS|protein_coding|CODING|NM_001001438.2|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala41Ala/c.123C>T|652|LSS|protein_coding|CODING|NM_001145437.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala121Ala/c.363C>T|732|LSS|protein_coding|CODING|NM_002340.5|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala121Ala/c.363C>T|721|LSS|protein_coding|CODING|NM_001145436.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0818,0.0965,0.1879,0.16,0.14,0.17,,,,,,,,,,,,,,,,
synonymous_variant,MCM3AP,SILENT,NM_003906.4:p.Asn441Asn/c.1323C>T,aaC/aaT,LOW,COSM3758989(1),0.270567,0.1558,rs11702450,,,,,,chr21,47703649,47703649,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn441Asn/c.1323C>T|1980|MCM3AP|protein_coding|CODING|NM_003906.4|2|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HSMM:H3K79me2",,,,0.365,0.232,0.4125,0.33,0.22,0.39,,,,,,,,,,,,,,,,
missense_variant,MCM3AP,MISSENSE,NM_003906.4:p.Glu396Lys/c.1186G>A,Gag/Aag,MODERATE,,0.000199681,0,rs118133821,0.21(T),0.292(B),0.975(L),-0.8913(T),,chr21,47704015,47704015,C,T,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu396Lys/c.1186G>A|1980|MCM3AP|protein_coding|CODING|NM_003906.4|1|1),"H1ESC:H3K36me3,HeLa-S3:H3K79me2,NH-A:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H4K20me1,K562:SETDB1,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.007368(N),0.771(D),"3.91,3.91(T,T)",0.0089(T),0.287,3.362879,5.33,4.44,0.563000,2.490000,1.656000,0.963000,1.000000,1.000000,7.2331
missense_variant,MCM3AP,MISSENSE,NM_003906.4:p.Ser102Leu/c.305C>T,tCa/tTa,MODERATE,COSM3736289(3),0.248602,0.1488,rs9975588,0.02(D),0.313(B),0.895(L),-0.9089(T),,chr21,47704896,47704896,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCa/tTa|p.Ser102Leu/c.305C>T|1980|MCM3AP|protein_coding|CODING|NM_003906.4|1|1),upstream_gene_variant(MODIFIER||1371||121|YBEY|protein_coding|CODING|NM_001006114.1||1),upstream_gene_variant(MODIFIER||1371||167|YBEY|protein_coding|CODING|NM_058181.1||1)","H1ESC:H3K36me3,HeLa-S3:H3K79me2,GM12878:H3K4me3,NH-A:H3K36me3,HSMM:H3K4me2,K562:H3K36me3,HMEC:H3K36me3,GM12878:H3K79me2,HeLa-S3:H3K4me2,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,GM12878:SP1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HUVEC:H3K4me1,NHEK:H3K4me2,K562:PU1,K562:H3K79me2,GM06990:H3K36me3,GM12878:PU1,K562:SP1,GM12878:H3K4me2,K562:H3K4me2,HSMM:H3K79me2",,,,0.2669,0.232,0.4085,0.33,0.21,0.39,,0.007357(N),0.561(P),"2.16,2.16(T,T)",0.0000(T),0.137,3.682683,5.47,4.59,0.561000,2.561000,4.224000,0.974000,0.992000,0.887000,12.4261
synonymous_variant,C21orf58,SILENT,NM_001286462.1:p.Leu27Leu/c.79T>C,Ttg/Ctg,LOW,,0.034345,0.001,rs117095783,,,,,,chr21,47734842,47734842,A,G,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu27Leu/c.79T>C|216|C21orf58|protein_coding|CODING|NM_001286462.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu27Leu/c.79T>C|216|C21orf58|protein_coding|CODING|NM_001286463.1|4|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu27Leu/c.79T>C|216|C21orf58|protein_coding|CODING|NM_001286476.1|5|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu27Leu/c.79T>C|216|C21orf58|protein_coding|CODING|NM_001286477.1|5|1),intron_variant(MODIFIER|||c.445-48T>C|322|C21orf58|protein_coding|CODING|NM_058180.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0245,0.1044,0.03,0.02,0.03,,,,,,,,,,,,,,,,
missense_variant,C21orf58,MISSENSE,NM_001286462.1:p.Ala26Val/c.77C>T,gCg/gTg,MODERATE,,0.0321486,0.001,rs114869542,0.04(D),0.002(B),,-1.0758(T),,chr21,47734844,47734844,G,A,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala26Val/c.77C>T|216|C21orf58|protein_coding|CODING|NM_001286462.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala26Val/c.77C>T|216|C21orf58|protein_coding|CODING|NM_001286463.1|4|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala26Val/c.77C>T|216|C21orf58|protein_coding|CODING|NM_001286476.1|5|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala26Val/c.77C>T|216|C21orf58|protein_coding|CODING|NM_001286477.1|5|1),intron_variant(MODIFIER|||c.445-50C>T|322|C21orf58|protein_coding|CODING|NM_058180.4|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0245,0.1044,0.03,0.01,0.03,,,1.000(N),"0.77,0.77,0.77,0.77(T,T,T,T)",0.0028(T),0.137,0.823678,1.76,-0.371,-1.520000,-0.356000,0.713000,0.000000,0.000000,0.003000,4.6466
synonymous_variant,PCNT,SILENT,NM_006031.5:p.Ser514Ser/c.1542C>A,tcC/tcA,LOW,COSM1130514(5),0.289537,0.3839,rs2249057,,,,,,chr21,47773103,47773103,C,A,hom,synonymous_variant(LOW|SILENT|tcC/tcA|p.Ser514Ser/c.1542C>A|3336|PCNT|protein_coding|CODING|NM_006031.5|10|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3016,0.1988,0.3449,0.30,0.23,0.33,,,,,,,,,,,,,,,,
missense_variant,PCNT,MISSENSE,NM_006031.5:p.Gly704Glu/c.2111G>A,gGg/gAg,MODERATE,COSM4135102(1),0.848642,0.8056,rs2839223,1(T),"0.0,0.0(B,B)",-0.895(N),-1.0244(T),,chr21,47777063,47777063,G,A,hom,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly704Glu/c.2111G>A|3336|PCNT|protein_coding|CODING|NM_006031.5|13|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7883,0.8199,0.8728,0.89,0.93,0.88,,,1.000(P),5.12(T),0.0000(T),0.03,-1.413341,5.03,5.03,-0.361000,0.772000,3.837000,0.012000,0.968000,0.998000,8.53
synonymous_variant,PCNT,SILENT,NM_006031.5:p.Ala852Ala/c.2556T>C,gcT/gcC,LOW,COSM444637(3),0.847045,0.8026,rs8131546,,,,,,chr21,47783796,47783796,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala852Ala/c.2556T>C|3336|PCNT|protein_coding|CODING|NM_006031.5|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7853,0.817,0.8728,0.89,0.93,0.88,,,,,,,,,,,,,,,,
synonymous_variant,PCNT,SILENT,NM_006031.5:p.Leu976Leu/c.2928C>G,ctC/ctG,LOW,COSM1414625(2),0.838858,0.8036,rs2839228,,,,,,chr21,47786817,47786817,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu976Leu/c.2928C>G|3336|PCNT|protein_coding|CODING|NM_006031.5|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7863,0.8156,0.8728,0.88,0.90,0.87,,,,,,,,,,,,,,,,
missense_variant,PCNT,MISSENSE,NM_006031.5:p.Val1038Ala/c.3113T>C,gTg/gCg,MODERATE,,0.83766,0.8006,rs6518289,1(T),"0.0,0.0(B,B)",0(N),-0.9316(T),,chr21,47787002,47787002,T,C,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val1038Ala/c.3113T>C|3336|PCNT|protein_coding|CODING|NM_006031.5|15|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7853,0.8156,0.8708,0.88,0.90,0.88,,0.002087(N),1.000(P),4.79(T),0.0000(T),0.046,0.731685,4.85,-9.48,-1.070000,-2.268000,-0.987000,0.000000,0.000000,0.000000,2.2782
synonymous_variant,PCNT,SILENT,NM_006031.5:p.Asp1399Asp/c.4197C>T,gaC/gaT,LOW,COSM444639(2),0.301518,0.4008,rs3737438,,,,,,chr21,47811272,47811272,C,T,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1399Asp/c.4197C>T|3336|PCNT|protein_coding|CODING|NM_006031.5|21|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2883,0.2262,0.3907,0.29,0.20,0.33,,,,,,,,,,,,,,,,
missense_variant,PCNT,MISSENSE,NM_006031.5:p.Pro2274Leu/c.6821C>T,cCg/cTg,MODERATE,COSM3759001(2),0.249601,0.3671,rs2070425,0.55(T),"0.005,0.001(B,B)",-0.41(N),-1.0274(T),,chr21,47836653,47836653,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro2274Leu/c.6821C>T|3336|PCNT|protein_coding|CODING|NM_006031.5|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2597,0.1686,0.2942,0.23,0.16,0.26,,0.811814(N),1.000(P),4.91(T),0.0000(T),0.023,-1.217766,4.57,-0.651,-0.794000,-0.235000,0.039000,0.000000,0.000000,0.000000,4.5198
synonymous_variant,PCNT,SILENT,NM_006031.5:p.Ala2600Ala/c.7800G>A,gcG/gcA,LOW,,0.00579073,0,rs61735820,,,,,,chr21,47850033,47850033,G,A,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala2600Ala/c.7800G>A|3336|PCNT|protein_coding|CODING|NM_006031.5|36|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.001,0.0029,0.0249,0.02,0.00,0.03,,,,,,,,,,,,,,,,
missense_variant,PCNT,MISSENSE,NM_006031.5:p.Gln2659His/c.7977G>C,caG/caC,MODERATE,COSM3759003(3),0.488219,0.6141,rs2070426,0.02(D),"0.003,0.003(B,B)",1.385(L),-0.9194(T),,chr21,47850484,47850484,G,C,hom,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln2659His/c.7977G>C|3336|PCNT|protein_coding|CODING|NM_006031.5|37|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5235,0.451,0.5586,0.48,0.34,0.56,,0.370482(N),1.000(P),4.42(T),0.0000(T),0.063,2.006586,4.76,-9.46,-0.302000,-1.418000,-3.277000,0.187000,0.000000,0.000000,4.3016
missense_variant,PCNT,MISSENSE,NM_006031.5:p.Gln2792Arg/c.8375A>G,cAg/cGg,MODERATE,COSM4135105(1),0.669928,0.619,rs2073376,0.75(T),"0.0,0.0(B,B)",-0.625(N),-1.0975(T),,chr21,47851753,47851753,A,G,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln2792Arg/c.8375A>G|3336|PCNT|protein_coding|CODING|NM_006031.5|38|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6135,0.5447,0.6511,0.69,0.79,0.64,,0.124923(N),1.000(P),5.0(T),0.0000(T),0.042,-1.982483,5.32,2.32,-0.119000,0.020000,0.246000,0.030000,0.314000,0.862000,8.7059
missense_variant,PCNT,MISSENSE,NM_006031.5:p.Arg3245Ser/c.9735A>C,agA/agC,MODERATE,COSM1751704(4),0.20627,0.4117,rs2073380,0.77(T),"0.009,0.004(B,B)",0.69(N),-0.9783(T),,chr21,47863757,47863757,A,C,het,missense_variant(MODERATE|MISSENSE|agA/agC|p.Arg3245Ser/c.9735A>C|3336|PCNT|protein_coding|CODING|NM_006031.5|45|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2382,0.1354,0.2157,0.17,0.08,0.21,,,1.000(P),4.92(T),0.0000(T),0.039,0.404264,5.0,-2.95,0.533000,-0.225000,-0.016000,0.020000,0.000000,0.000000,1.0943
synonymous_variant,DIP2A,SILENT,NM_015151.3:p.Pro58Pro/c.174A>G,ccA/ccG,LOW,COSM4002067(2),0.358826,0.4067,rs7279002,,,,,,chr21,47910523,47910523,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro58Pro/c.174A>G|798|DIP2A|protein_coding|CODING|NM_001146115.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro58Pro/c.174A>G|1567|DIP2A|protein_coding|CODING|NM_001146116.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro58Pro/c.174A>G|1571|DIP2A|protein_coding|CODING|NM_015151.3|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro58Pro/c.174A>G|889|DIP2A|protein_coding|CODING|NM_206889.2|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro58Pro/c.174A>G|841|DIP2A|protein_coding|CODING|NM_206890.2|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro58Pro/c.174A>G|812|DIP2A|protein_coding|CODING|NM_206891.2|3|1),intron_variant(MODIFIER|||c.92-6378A>G|1110|DIP2A|protein_coding|CODING|NM_001146114.1|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.1988,0.2545,0.30,0.43,0.23,,,,,,,,,,,,,,,,
missense_variant,DIP2A,MISSENSE,NM_015151.3:p.Pro191Ala/c.571C>G,Ccc/Gcc,MODERATE,COSM1414645(2),0.029353,0.001,rs7283507,0.43(T),"0.001,0.006,0.003,0.001,0.003,0.005(B,B,B,B,B,B)",0.82(L),-1.0697(T),,chr21,47918662,47918662,C,G,het,"missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro127Ala/c.379C>G|1110|DIP2A|protein_coding|CODING|NM_001146114.1|3|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro191Ala/c.571C>G|798|DIP2A|protein_coding|CODING|NM_001146115.1|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro191Ala/c.571C>G|1567|DIP2A|protein_coding|CODING|NM_001146116.1|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro191Ala/c.571C>G|1571|DIP2A|protein_coding|CODING|NM_015151.3|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro191Ala/c.571C>G|889|DIP2A|protein_coding|CODING|NM_206889.2|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro191Ala/c.571C>G|841|DIP2A|protein_coding|CODING|NM_206890.2|5|1),missense_variant(MODERATE|MISSENSE|Ccc/Gcc|p.Pro191Ala/c.571C>G|812|DIP2A|protein_coding|CODING|NM_206891.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0215,0.0245,0.0895,0.06,0.02,0.08,,0.009267(U),1.000(D),"2.0,1.99,1.97,1.98,1.86,1.99,2.0(T,T,T,T,T,T,T)",0.0021(T),0.135,2.330893,5.54,4.66,0.650000,1.337000,3.454000,0.915000,0.984000,1.000000,13.3155
synonymous_variant,DIP2A,SILENT,NM_015151.3:p.Leu693Leu/c.2079G>A,ctG/ctA,LOW,COSM3759005(2),0.38738,0.4058,rs2070435,,,,,,chr21,47961711,47961711,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu629Leu/c.1887G>A|1110|DIP2A|protein_coding|CODING|NM_001146114.1|16|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu650Leu/c.1950G>A|798|DIP2A|protein_coding|CODING|NM_001146115.1|17|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu689Leu/c.2067G>A|1567|DIP2A|protein_coding|CODING|NM_001146116.1|18|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu693Leu/c.2079G>A|1571|DIP2A|protein_coding|CODING|NM_015151.3|18|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu693Leu/c.2079G>A|889|DIP2A|protein_coding|CODING|NM_206889.2|18|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu693Leu/c.2079G>A|841|DIP2A|protein_coding|CODING|NM_206890.2|18|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu693Leu/c.2079G>A|812|DIP2A|protein_coding|CODING|NM_206891.2|18|1)","H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3282,0.2147,0.3439,0.37,0.48,0.32,,,,,,,,,,,,,,,,
synonymous_variant,DIP2A,SILENT,NM_015151.3:p.Thr921Thr/c.2763G>A,acG/acA,LOW,COSM3759011(1),0.265575,0.3452,rs2255397,,,,,,chr21,47970581,47970581,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr857Thr/c.2571G>A|1110|DIP2A|protein_coding|CODING|NM_001146114.1|21|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr917Thr/c.2751G>A|1567|DIP2A|protein_coding|CODING|NM_001146116.1|23|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr921Thr/c.2763G>A|1571|DIP2A|protein_coding|CODING|NM_015151.3|23|1),downstream_gene_variant(MODIFIER||558||889|DIP2A|protein_coding|CODING|NM_206889.2||1)","CD4:CBP,H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,NHEK:H3K36me3,CD4:H4K5ac,CD4:H3K4ac,HepG2:H3K36me3,CD4:PolII,HeLa-S3:H3K36me3,CD4:H2BK120ac,CD4:p300,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.2393,0.2795,0.2078,0.22,0.25,0.21,,,,,,,,,,,,,,,,
synonymous_variant,PRMT2,SILENT,NM_001535.4:p.Ala23Ala/c.69C>G,gcC/gcG,LOW,,0.863019,0.9067,rs10854485,,,,,,chr21,48063476,48063476,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|331|PRMT2|protein_coding|CODING|NM_001242864.2|3|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|284|PRMT2|protein_coding|CODING|NM_001242865.2|3|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|277|PRMT2|protein_coding|CODING|NM_001242866.2|3|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|301|PRMT2|protein_coding|CODING|NM_001286676.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|289|PRMT2|protein_coding|CODING|NM_001286677.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|228|PRMT2|protein_coding|CODING|NM_001286678.1|3|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|433|PRMT2|protein_coding|CODING|NM_001535.4|3|1),synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala23Ala/c.69C>G|433|PRMT2|protein_coding|CODING|NM_206962.3|4|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8763,0.8718,0.8032,0.81,0.85,0.78,,,,,,,,,,,,,,,,
missense_variant,CCT8L2,MISSENSE,NM_014406.4:p.Trp320Arg/c.958T>C,Tgg/Cgg,MODERATE,COSM149246(3),0.870407,0.6875,rs2236639,0.24(T),0.0(B),,-1.0360(T),,chr22,17072483,17072483,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp320Arg/c.958T>C|557|CCT8L2|protein_coding|CODING|NM_014406.4|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.908,0.8386,0.9344,0.94,0.94,0.93,,0.003320(N),1.000(P),-0.95(T),0.0000(T),0.023,-1.915050,1.98,0.711,-0.974000,0.181000,0.374000,0.002000,0.008000,0.002000,2.3239
synonymous_variant,CCT8L2,SILENT,NM_014406.4:p.Ala125Ala/c.375T>C,gcT/gcC,LOW,COSM3759012(2),0.869209,0.6875,rs5747988,,,,,,chr22,17073066,17073066,A,G,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala125Ala/c.375T>C|557|CCT8L2|protein_coding|CODING|NM_014406.4|1|1),"GM12878:H3K36me3,H1ESC:H3K9me3,HepG2:H3K27me3",,,,0.91,0.8343,0.9324,0.94,0.94,0.93,,,,,,,,,,,,,,,,
missense_variant,IL17RA,MISSENSE,NM_014339.6:p.Ala367Val/c.1100C>T,gCg/gTg,MODERATE,COSM149248(3),0.271565,0.0942,rs386618952,0.32(T),"0.003,0.003(B,B)",0.92(L),-0.9107(T),,chr22,17589209,17589209,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala333Val/c.998C>T|832|IL17RA|protein_coding|CODING|NM_001289905.1|12|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala367Val/c.1100C>T|866|IL17RA|protein_coding|CODING|NM_014339.6|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1943,0.2767,0.2624,0.31,0.43,0.25,,0.002247(N),1.000(P),3.37(T),0.0000(T),0.019,0.946477,5.06,-1.44,-0.234000,-0.308000,-2.423000,0.043000,0.000000,0.000000,0.6191
synonymous_variant,IL17RA,SILENT,NM_014339.6:p.Ile486Ile/c.1458C>T,atC/atT,LOW,COSM3759014(3),0.163938,0.0685,rs879575,,,,,,chr22,17589567,17589567,C,T,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile452Ile/c.1356C>T|832|IL17RA|protein_coding|CODING|NM_001289905.1|12|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile486Ile/c.1458C>T|866|IL17RA|protein_coding|CODING|NM_014339.6|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.1687,0.1268,0.2555,0.22,0.17,0.24,,,,,,,,,,,,,,,,
synonymous_variant,IL17RA,SILENT,NM_014339.6:p.Pro720Pro/c.2160C>T,ccC/ccT,LOW,COSM3759015(1),0.242612,0.0962,rs4819555,,,,,,chr22,17590269,17590269,C,T,het,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro686Pro/c.2058C>T|832|IL17RA|protein_coding|CODING|NM_001289905.1|12|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro720Pro/c.2160C>T|866|IL17RA|protein_coding|CODING|NM_014339.6|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.183,0.2723,0.2505,0.27,0.33,0.24,,,,,,,,,,,,,,,,
synonymous_variant,CECR6,SILENT,NM_031890.3:p.Phe347Phe/c.1041C>T,ttC/ttT,LOW,COSM3759017(1),0.476837,0.495,rs5994165,,,,,,chr22,17600977,17600977,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe347Phe/c.1041C>T|578|CECR6|protein_coding|CODING|NM_031890.3|1|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||223|CECR6|protein_coding|CODING|NM_001163079.1|2|1),5_prime_UTR_variant(MODIFIER||25|c.-25C>T|223|CECR6|protein_coding|CODING|NM_001163079.1|2|1),upstream_gene_variant(MODIFIER||1508|||LOC100996342||NON_CODING|NR_103793.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,HepG2:Nrsf,H1ESC:H3K27me3,CD4:H4K20me1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,CD4:H3K4me1,IMR90:H3K27me3,K562:Nrsf,HepG2:H3K27me3,GM12878:Nrsf",,,,0.5174,0.5101,0.3847,0.41,0.47,0.37,,,,,,,,,,,,,,,,
synonymous_variant,CECR6,SILENT,NM_031890.3:p.Arg184Arg/c.552A>G,agA/agG,LOW,COSM4135111(3),0.226038,0.2669,rs75243280,,,,,,chr22,17601466,17601466,T,C,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg184Arg/c.552A>G|578|CECR6|protein_coding|CODING|NM_031890.3|1|1),upstream_gene_variant(MODIFIER||1019|||LOC100996342||NON_CODING|NR_103793.1||1),intron_variant(MODIFIER|||c.-81-433A>G|223|CECR6|protein_coding|CODING|NM_001163079.1|1|1)","HUVEC:H3K27me3,CD4:DNase1,HepG2:Nrsf,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HeLa-S3:Nrsf,IMR90:H3K27me3,H1ESC:Nrsf,HepG2:DNase1,H1ESC:Sin3Ak20,K562:Nrsf,GM06990:DNase1,GM12878:Nrsf,K562:DNase1,H1ESC:CTCF,GM12878:Sin3Ak20",,,,0.2168,0.2233,0.2833,0.16,0.10,0.20,,,,,,,,,,,,,,,,
synonymous_variant,CECR6,SILENT,NM_031890.3:p.Val90Val/c.270G>A,gtG/gtA,LOW,COSM4135112(1),0.333666,0.129,rs9606620,,,,,,chr22,17601748,17601748,C,T,het,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val90Val/c.270G>A|578|CECR6|protein_coding|CODING|NM_031890.3|1|1),upstream_gene_variant(MODIFIER||737|||LOC100996342||NON_CODING|NR_103793.1||1),intron_variant(MODIFIER|||c.-82+394G>A|223|CECR6|protein_coding|CODING|NM_001163079.1|1|1)","HUVEC:H3K27me3,GM12878:H3K27me3,HepG2:Nrsf,H1ESC:H3K4me2,H1ESC:H3K27me3,CD4:H4K20me1,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K4me3,K562:Nrsf,HepG2:H3K27me3,GM12878:Nrsf",,,,0.2751,0.2363,0.336,0.34,0.46,0.28,,,,,,,,,,,,,,,,
synonymous_variant,CECR5,SILENT,NM_033070.2:p.Gly92Gly/c.276G>T,ggG/ggT,LOW,,0.534345,0.6796,rs1034859,,,,,,chr22,17630486,17630486,C,A,het,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly62Gly/c.186G>T|393|CECR5|protein_coding|CODING|NM_017829.5|2|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly92Gly/c.276G>T|423|CECR5|protein_coding|CODING|NM_033070.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4888,0.6744,0.5447,0.48,0.39,0.53,,,,,,,,,,,,,,,,
synonymous_variant,CECR5,SILENT,NM_033070.2:p.Pro40Pro/c.120C>G,ccC/ccG,LOW,,0.104433,0.123,rs11550530,,,,,,chr22,17640022,17640022,G,C,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro40Pro/c.120C>G|423|CECR5|protein_coding|CODING|NM_033070.2|1|1),upstream_gene_variant(MODIFIER||257|||CECR5-AS1||NON_CODING|NR_024482.1||1),upstream_gene_variant(MODIFIER||257|||CECR5-AS1||NON_CODING|NR_024483.1||1),intron_variant(MODIFIER|||c.36+6077C>G|393|CECR5|protein_coding|CODING|NM_017829.5|1|1)","HeLa-S3:Cmyc,K562:Max,K562:H3K4me3,GM12878:USF1,HeLa-S3:DNase1,CD4:H3K18ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HUVEC:PolII,H1ESC:H3K27me3,H1ESC:H3K27ac,IMR90:DNase1,H1ESC:DNase1,GM12878:ELF1,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,GM06990:H3K4me3,GM12878:Egr1,HUVEC:DNase1,K562:USF1,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,K562:E2F6,HeLa-S3:PolII,GM12878:PolII,CD4:HDAC1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.0583,0.1297,0.0865,0.06,0.07,0.05,,,,,,,,,,,,,,,,
synonymous_variant,CECR1,SILENT,NM_001282225.1:p.Tyr453Tyr/c.1359T>C,taT/taC,LOW,COSM3759020(1),0.191893,0.0456,rs7289170,,,,,,chr22,17662793,17662793,A,G,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr453Tyr/c.1359T>C|511|CECR1|protein_coding|CODING|NM_001282225.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr453Tyr/c.1359T>C|511|CECR1|protein_coding|CODING|NM_001282226.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr411Tyr/c.1233T>C|469|CECR1|protein_coding|CODING|NM_001282227.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr411Tyr/c.1233T>C|469|CECR1|protein_coding|CODING|NM_001282228.1|9|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr333Tyr/c.999T>C|391|CECR1|protein_coding|CODING|NM_001282229.1|8|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr212Tyr/c.636T>C|270|CECR1|protein_coding|CODING|NM_177405.2|6|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,K562:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.1401,0.2003,0.3211,0.30,0.24,0.33,,,,,,,,,,,,,,,,
synonymous_variant,CECR1,SILENT,NM_001282226.1:p.Asn53Asn/c.159C>T,aaC/aaT,LOW,COSM4135116(1),0.311302,0.0744,rs362129,,,,,,chr22,17690409,17690409,G,A,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn11Asn/c.33C>T|469|CECR1|protein_coding|CODING|NM_001282227.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn11Asn/c.33C>T|469|CECR1|protein_coding|CODING|NM_001282228.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn53Asn/c.159C>T|511|CECR1|protein_coding|CODING|NM_001282226.1|2|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn53Asn/c.159C>T|511|CECR1|protein_coding|CODING|NM_001282225.1|2|1),intron_variant(MODIFIER|||c.-38-2229C>T|391|CECR1|protein_coding|CODING|NM_001282229.1|1|1)","GM12878:H3K36me3,CD4:H4K20me1,K562:H3K27me3",,,,0.3967,0.3444,0.495,0.45,0.31,0.52,,,,,,,,,,,,,,,,
missense_variant,CECR2,MISSENSE,NM_001290047.1:p.Val252Ile/c.754G>A,Gtc/Atc,MODERATE,COSM149250(1),0.203874,0.4444,rs5747211,0.04(D),"0.482,0.572,0.908(P,P,P)",1.355(L),-0.9454(T),,chr22,17990852,17990852,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg130His/c.389G>A|1300|CECR2|protein_coding|CODING|NM_001290046.1|8|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val252Ile/c.754G>A|1422|CECR2|protein_coding|CODING|NM_001290047.1|7|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1012,0.2205,0.1193,0.12,0.12,0.11,,0.439294(N),0.158(P),"0.7,0.7,0.7(T,T,T)",0.0000(T),0.172,3.626341,3.62,1.5,0.585000,0.239000,1.476000,0.951000,0.995000,1.000000,7.5256
missense_variant,CECR2,MISSENSE,NM_001290047.1:p.Arg613Trp/c.1837C>T,Cgg/Tgg,MODERATE,COSM4002083(2),0.076278,0.0397,rs1296794,0.08(T),"0.998,0.982,0.448(D,D,P)",2.125(M),-1.1373(T),,chr22,18021604,18021604,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro491Leu/c.1472C>T|1300|CECR2|protein_coding|CODING|NM_001290046.1|15|1),missense_variant(MODERATE|MISSENSE|Cgg/Tgg|p.Arg613Trp/c.1837C>T|1422|CECR2|protein_coding|CODING|NM_001290047.1|14|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0726,0.134,0.17,0.14,0.03,0.19,,0.000060(D),0.000(P),"1.34,1.31,1.24(T,T,T)",0.0004(T),0.28,2.919307,5.65,4.64,0.591000,1.377000,3.519000,0.093000,0.972000,0.996000,14.4254
synonymous_variant,BCL2L13,SILENT,NM_001270726.1:p.Ser281Ser/c.843A>G,tcA/tcG,LOW,,0.665935,0.9325,rs4488761,,,,,,chr22,18209613,18209613,A,G,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser281Ser/c.843A>G|509|BCL2L13|protein_coding|CODING|NM_001270726.1|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser233Ser/c.699A>G|461|BCL2L13|protein_coding|CODING|NM_001270727.1|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser95Ser/c.285A>G|323|BCL2L13|protein_coding|CODING|NM_001270729.1|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser95Ser/c.285A>G|323|BCL2L13|protein_coding|CODING|NM_001270730.1|5|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser95Ser/c.285A>G|323|BCL2L13|protein_coding|CODING|NM_001270731.1|6|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser257Ser/c.771A>G|485|BCL2L13|protein_coding|CODING|NM_015367.3|7|1),5_prime_UTR_variant(MODIFIER||70|c.-70A>G|205|BCL2L13|protein_coding|CODING|NM_001270733.1|2|1),3_prime_UTR_variant(MODIFIER||157|c.*157A>G|92|BCL2L13|protein_coding|CODING|NM_001270728.1|4|1),3_prime_UTR_variant(MODIFIER||157|c.*157A>G|128|BCL2L13|protein_coding|CODING|NM_001270732.1|5|1),3_prime_UTR_variant(MODIFIER||157|c.*157A>G|80|BCL2L13|protein_coding|CODING|NM_001270735.1|4|1),3_prime_UTR_variant(MODIFIER||41|c.*41A>G|171|BCL2L13|protein_coding|CODING|NM_001270734.1|5|1),non_coding_exon_variant(MODIFIER|||n.722A>G||BCL2L13||CODING|NR_073068.1|5|1),non_coding_exon_variant(MODIFIER|||n.705A>G||BCL2L13||CODING|NR_073069.1|5|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,NH-A:H3K36me3,HUVEC:H3K36me3,IMR90:H3K56ac,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H4K5ac,IMR90:H3K4me2,CD4:H4K8ac,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K4ac,IMR90:H3K4me1,IMR90:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6554,0.6527,0.5358,0.55,0.60,0.53,,,,,,,,,,,,,,,,
synonymous_variant,MICAL3,SILENT,NM_015241.2:p.Leu1729Leu/c.5187A>G,ctA/ctG,LOW,COSM3766677(1),0.386182,0.1726,rs5992854,,,,,,chr22,18300240,18300240,T,C,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu1729Leu/c.5187A>G|2002|MICAL3|protein_coding|CODING|NM_015241.2|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2812,0.2651,0.3897,0.48,0.65,0.40,,,0.006(P),,,.,-1.642718,4.65,-2.63,-2.031000,-0.962000,-1.496000,0.002000,0.002000,0.001000,6.7809
synonymous_variant,MICAL3,SILENT,NM_015241.2:p.Asp1611Asp/c.4833C>T,gaC/gaT,LOW,COSM3766679(1),0.151158,0.0863,rs11704160,,,,-0.9255(T),,chr22,18300594,18300594,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp1611Asp/c.4833C>T|2002|MICAL3|protein_coding|CODING|NM_015241.2|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1892,0.1859,0.3171,0.24,0.07,0.33,,,0.000(P),,0.0000(T),.,0.606705,4.9,-9.8,-1.069000,-2.868000,-1.313000,0.955000,0.080000,0.005000,21.8178
synonymous_variant,MICAL3,SILENT,NM_015241.2:p.Ser1516Ser/c.4548C>T,agC/agT,LOW,COSM4135122(1),0.151957,0.0843,rs11704809,,,,-1.0889(T),,chr22,18300879,18300879,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser1516Ser/c.4548C>T|2002|MICAL3|protein_coding|CODING|NM_015241.2|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1892,0.1844,0.3161,0.24,0.07,0.33,,,0.000(P),,0.0000(T),.,-0.220901,4.9,-8.09,-0.291000,-1.838000,-0.400000,0.370000,0.749000,0.145000,15.7355
missense_variant,MICAL3,MISSENSE,NM_015241.2:p.Pro1491Ser/c.4471C>T,Ccc/Tcc,MODERATE,,,,,0.49(T),0.014(B),1.795(L),-0.8776(T),,chr22,18300956,18300956,G,A,het,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro1491Ser/c.4471C>T|2002|MICAL3|protein_coding|CODING|NM_015241.2|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,0.999(D),-0.1(T),0.1869(T),0.082,0.310922,4.27,3.23,0.455000,1.940000,1.705000,0.003000,0.037000,0.387000,12.254
missense_variant,MICAL3,MISSENSE,NM_015241.2:p.Gln1245Arg/c.3734A>G,cAg/cGg,MODERATE,,0.254992,0.0893,rs8135914,0.67(T),0.0(B),0.345(N),-0.9487(T),,chr22,18301693,18301693,T,C,hom,missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln1245Arg/c.3734A>G|2002|MICAL3|protein_coding|CODING|NM_015241.2|26|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2045,0.2161,0.331,0.33,0.33,0.33,,,1.000(P),0.04(T),0.0000(T),0.016,0.193465,4.73,-4.25,-2.475000,-1.684000,-1.645000,0.001000,0.000000,0.000000,6.364
synonymous_variant,DGCR6,SILENT,NM_005675.4:p.Tyr165Tyr/c.495C>T,taC/taT,LOW,,0.0407348,0.0496,rs41277586,,,,,,chr22,18898523,18898523,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr165Tyr/c.495C>T|220|DGCR6|protein_coding|CODING|NM_005675.4|4|1),downstream_gene_variant(MODIFIER||1764||492|PRODH|protein_coding|CODING|NM_001195226.1||1),downstream_gene_variant(MODIFIER||1764||600|PRODH|protein_coding|CODING|NM_016335.4||1)","K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K27me3",,,,0.0102,0.0317,0.0328,0.04,0.05,0.03,,,,,,,,,,,,,,,,
synonymous_variant,PRODH,SILENT,NM_016335.4:p.Leu581Leu/c.1741C>T,Ctg/Ttg,LOW,COSM4135137(1),0.763379,0.8224,rs372055,,,,,,chr22,18900750,18900750,G,A,hom,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu473Leu/c.1417C>T|492|PRODH|protein_coding|CODING|NM_001195226.1|14|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu581Leu/c.1741C>T|600|PRODH|protein_coding|CODING|NM_016335.4|15|1),downstream_gene_variant(MODIFIER||1149||220|DGCR6|protein_coding|CODING|NM_005675.4||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27me3",,RCV000115064.1,,0.8354,0.8156,0.7932,0.76,0.66,0.81,,,,,,,,,,,,,,,,
missense_variant,PRODH,MISSENSE,NM_016335.4:p.Arg521Gln/c.1562G>A,cGg/cAg,MODERATE,COSM4004837(1),0.905551,0.9633,rs450046,0.61(T),0.0(B),,-0.9848(T),,chr22,18901004,18901004,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg413Gln/c.1238G>A|492|PRODH|protein_coding|CODING|NM_001195226.1|13|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg521Gln/c.1562G>A|600|PRODH|protein_coding|CODING|NM_016335.4|14|1),downstream_gene_variant(MODIFIER||1403||220|DGCR6|protein_coding|CODING|NM_005675.4||1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,RCV000004222.1|RCV000004223.1|RCV000115065.1,,0.9213,0.9568,0.9284,0.90,0.84,0.94,,0.001155(N),0.000(P),1.63(T),0.0000(T),0.192,1.605010,4.67,4.67,-0.471000,0.750000,2.472000,0.425000,0.988000,1.000000,8.8381
synonymous_variant,PRODH,SILENT,NM_016335.4:p.Phe505Phe/c.1515T>C,ttT/ttC,LOW,COSM4135138(1),0.83746,0.8948,rs455072,,,,,,chr22,18904414,18904414,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe397Phe/c.1191T>C|492|PRODH|protein_coding|CODING|NM_001195226.1|12|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe505Phe/c.1515T>C|600|PRODH|protein_coding|CODING|NM_016335.4|13|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.9039,0.9424,0.9274,,,,,,,,,,,,,,,,,,,
synonymous_variant,PRODH,SILENT,NM_016335.4:p.Leu331Leu/c.991T>C,Ttg/Ctg,LOW,,0.73143,0.8175,rs1808320,,,,,,chr22,18908875,18908875,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu223Leu/c.667T>C|492|PRODH|protein_coding|CODING|NM_001195226.1|8|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu331Leu/c.991T>C|600|PRODH|protein_coding|CODING|NM_016335.4|9|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,IMR90:H3K27me3",,,,0.727,0.5937,0.5676,0.66,0.82,0.58,,,,,,,,,,,,,,,,
missense_variant,PRODH,MISSENSE,NM_016335.4:p.Leu289Met/c.865T>A,Ttg/Atg,MODERATE,,0.00319489,0,,0.48(T),"0.02,0.078,0.011(B,B,B)",0(N),-1.0625(T),,chr22,18909902,18909902,A,T,het,"missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu181Met/c.541T>A|492|PRODH|protein_coding|CODING|NM_001195226.1|7|1),missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu289Met/c.865T>A|600|PRODH|protein_coding|CODING|NM_016335.4|8|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,RCV000004216.1|RCV000004217.1,,0.002,0.0058,0.0089,0.00,0.00,0.01,,0.000084(N),0.961(D),"0.36,1.2(T,T)",0.0589(T),0.733,-0.776637,4.63,4.63,-0.280000,0.753000,0.968000,0.834000,0.997000,1.000000,7.7507
stop_gained,PRODH,NONSENSE,NM_016335.4:p.Trp185*/c.554G>A,tGg/tAg,HIGH,COSM3759027(1),0.0563099,0.0298,rs11913840,0.02(D),,,,PRODH:1.00(2);PRODH:1.00(2);,chr22,18912677,18912677,C,T,het,"stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp77*/c.230G>A|492|PRODH|protein_coding|CODING|NM_001195226.1|4|1),stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp185*/c.554G>A|600|PRODH|protein_coding|CODING|NM_016335.4|5|1)","H1ESC:H3K36me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0112,0.0476,0.0477,0.06,0.10,0.04,,0.094139(N),0.000(P),,,.,1.645458,5.03,-6.11,-0.400000,-1.080000,-0.210000,0.007000,0.001000,0.000000,6.8348
missense_variant,PRODH,MISSENSE,NM_016335.4:p.Trp185Arg/c.553T>C,Tgg/Cgg,MODERATE,,0.78095,0.9712,rs4819756,,,,-0.9908(T),,chr22,18912678,18912678,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp77Arg/c.229T>C|492|PRODH|protein_coding|CODING|NM_001195226.1|4|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp185Arg/c.553T>C|600|PRODH|protein_coding|CODING|NM_016335.4|5|1)","H1ESC:H3K36me3,GM12878:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7106,0.6715,0.5567,0.67,0.86,0.58,,,0.999(P),,0.0000(T),.,-1.215883,5.03,2.88,-1.516000,0.250000,3.683000,0.007000,0.234000,0.975000,6.4381
missense_variant,PRODH,MISSENSE,NM_016335.4:p.Ala58Thr/c.172G>A,Gcg/Acg,MODERATE,,0.0297524,0,rs146648839,1(T),0.001(B),-0.925(N),-1.0297(T),,chr22,18923629,18923629,C,T,het,"missense_variant(MODERATE|MISSENSE|Gcg/Acg|p.Ala58Thr/c.172G>A|600|PRODH|protein_coding|CODING|NM_016335.4|2|1),intron_variant(MODIFIER|||c.-52+274G>A|492|PRODH|protein_coding|CODING|NM_001195226.1|1|1)","HeLa-S3:DNase1,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:H3K27ac,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.0031,0.0346,0.0328,0.02,0.03,0.01,,0.004238(N),0.000(P),1.87(T),0.0004(T),0.022,1.252591,2.4,-4.35,-0.763000,-0.476000,-1.355000,0.560000,0.902000,0.053000,2.7313
missense_variant,DGCR2,MISSENSE,NM_005137.2:p.Val473Ala/c.1418T>C,gTg/gCg,MODERATE,COSM4135140(2),0.43151,0.3442,rs2072123,0.84(T),"0.001,0.0(B,B)",-0.29(N),-0.9770(T),,chr22,19026613,19026613,A,G,het,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val432Ala/c.1295T>C|509|DGCR2|protein_coding|CODING|NM_001173533.1|9|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val429Ala/c.1286T>C|506|DGCR2|protein_coding|CODING|NM_001173534.1|9|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val470Ala/c.1409T>C|547|DGCR2|protein_coding|CODING|NM_001184781.1|10|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val473Ala/c.1418T>C|550|DGCR2|protein_coding|CODING|NM_005137.2|10|1),non_coding_exon_variant(MODIFIER|||n.1551T>C||DGCR2||CODING|NR_033674.1|9|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.4294,0.4078,0.3559,0.42,0.51,0.38,,0.424762(N),1.000(P),"1.0,1.0(T,T)",0.0000(T),0.031,-0.885473,5.61,-4.41,-1.714000,-1.523000,-0.707000,0.003000,0.000000,0.000000,2.7147
missense_variant,DGCR14,MISSENSE,NM_022719.2:p.Ala423Val/c.1268C>T,gCa/gTa,MODERATE,COSM4135146(1),0.102835,0.1062,rs712965,0.35(T),0.004(B),0.805(L),-0.9874(T),,chr22,19121872,19121872,G,A,het,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala423Val/c.1268C>T|476|DGCR14|protein_coding|CODING|NM_022719.2|10|1),downstream_gene_variant(MODIFIER||1736||358|TSSK2|protein_coding|CODING|NM_053006.4||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0706,0.0865,0.0547,0.09,0.17,0.06,,0.004843(N),0.955(D),1.87(T),0.0001(T),0.015,2.178402,4.32,3.23,0.484000,2.241000,4.499000,0.988000,1.000000,1.000000,12.4077
missense_variant,GSC2,MISSENSE,NM_005315.1:p.Arg47Cys/c.139C>T,Cgc/Tgc,MODERATE,,0.364816,0.4911,rs34341950,0.06(T),0.0(B),0.55(N),-1.0396(T),,chr22,19137658,19137658,G,A,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg47Cys/c.139C>T|205|GSC2|protein_coding|CODING|NM_005315.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.3211,0.2939,0.2545,,,,,0.206721(N),1.000(P),-2.8(D),0.0000(T),0.105,1.229983,3.6,-7.19,-1.224000,-1.460000,-0.397000,0.163000,0.000000,0.000000,6.5431
missense_variant,CLTCL1,MISSENSE,NM_007098.3:p.Met1316Val/c.3946A>G,Atg/Gtg,MODERATE,,0.403554,0.3075,rs1061325,0.14(T),"0.314,0.994,0.994(B,D,D)",2.295(M),-0.9011(T),,chr22,19184095,19184095,T,C,het,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1316Val/c.3946A>G|1583|CLTCL1|protein_coding|CODING|NM_001835.3|25|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met1316Val/c.3946A>G|1640|CLTCL1|protein_coding|CODING|NM_007098.3|25|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5879,0.4568,0.5149,0.42,0.26,0.50,,0.000000(D),0.000(P),"2.55,2.55,2.55(T,T,T)",0.0000(T),0.634,3.457621,3.5,3.5,0.402000,1.469000,7.144000,0.864000,1.000000,1.000000,12.1517
synonymous_variant,CLTCL1,SILENT,NM_007098.3:p.Ala1124Ala/c.3372C>T,gcC/gcT,LOW,COSM4002092(1),0.153155,0.3968,rs1060376,,,,,,chr22,19196502,19196502,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1124Ala/c.3372C>T|1583|CLTCL1|protein_coding|CODING|NM_001835.3|21|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1124Ala/c.3372C>T|1640|CLTCL1|protein_coding|CODING|NM_007098.3|21|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1053,0.1225,0.0378,0.06,0.10,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CLTCL1,SILENT,NM_007098.3:p.Ala1063Ala/c.3189A>G,gcA/gcG,LOW,,0.848043,0.9365,rs698423,,,,,,chr22,19197896,19197896,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1063Ala/c.3189A>G|1583|CLTCL1|protein_coding|CODING|NM_001835.3|20|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala1063Ala/c.3189A>G|1640|CLTCL1|protein_coding|CODING|NM_007098.3|20|1)","H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8763,0.7767,0.6272,0.73,0.92,0.64,,,,,,,,,,,,,,,,
synonymous_variant,TBX1,SILENT,NM_080647.1:p.Leu222Leu/c.664C>T,Cta/Tta,LOW,COSM3759032(4),0.341254,0.1171,rs2301558,,,,,,chr22,19751829,19751829,C,T,hom,"synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu222Leu/c.664C>T|372|TBX1|protein_coding|CODING|NM_005992.1|5|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu222Leu/c.664C>T|398|TBX1|protein_coding|CODING|NM_080646.1|5|1),synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu222Leu/c.664C>T|495|TBX1|protein_coding|CODING|NM_080647.1|5|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K27me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,H1ESC:DNase1,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.3517,0.3127,0.2087,0.34,0.56,0.23,,,,,,,,,,,,,,,,
missense_variant,TBX1,MISSENSE,NM_080646.1:p.Thr350Met/c.1049C>T,aCg/aTg,MODERATE,COSM1414906(2),0.209265,0.119,rs4819522,0.13(T),0.736(P),0.55(N),-1.0370(T),,chr22,19766782,19766782,C,T,het,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr350Met/c.1049C>T|398|TBX1|protein_coding|CODING|NM_080646.1|9|1),intron_variant(MODIFIER|||c.1010-3654C>T|372|TBX1|protein_coding|CODING|NM_005992.1|8|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HepG2:H3K27me3",,,,0.3845,0.255,0.169,0.17,0.15,0.18,,,1.000(P),-2.19(D),0.0003(T),0.019,1.950373,1.69,-3.37,0.555000,-0.727000,-0.716000,0.012000,0.000000,0.000000,3.5111
missense_variant,GNB1L,MISSENSE,NM_053004.2:p.Arg37His/c.110G>A,cGc/cAc,MODERATE,COSM3759036(1),0.14397,0.0913,rs5748449,0.52(T),0.0(B),-0.895(N),-1.0195(T),,chr22,19808769,19808769,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg37His/c.110G>A|327|GNB1L|protein_coding|CODING|NM_053004.2|3|1),"GM12878:H3K36me3,K562:H3K36me3,NHEK:H3K36me3",,,,0.2894,0.1758,0.1968,0.15,0.05,0.20,,0.528250(N),1.000(P),"2.16,2.16,5.02,1.29(T,T,T,T)",0.0000(T),0.194,-0.167019,4.9,-4.57,-0.752000,-0.600000,-2.766000,0.040000,0.000000,0.000000,4.561
missense_variant,TXNRD2,MISSENSE,NM_006440.4:p.Ile370Thr/c.1109T>C,aTa/aCa,MODERATE,,0.718251,0.623,rs1139793,0.15(T),"0.0,0.0,0.0(B,B,B)",-1.14(N),-0.9806(T),,chr22,19868218,19868218,A,G,hom,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile370Thr/c.1109T>C|524|TXNRD2|protein_coding|CODING|NM_006440.4|13|1),"IMR90:H2BK120ac,K562:PolII,HUVEC:H3K4me3,HSMM:H3K27ac,NHEK:H3K4me1,HUVEC:PolII,HSMM:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:H2BK12ac,IMR90:H2AK5ac,IMR90:H3K4me1,IMR90:H3K4ac,NH-A:H3K27ac,IMR90:H3K36me3,HUVEC:Cmyc,HUVEC:H3K4me2,H1ESC:H3K4me1,HSMM:H3K4me1,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HMEC:H3K4me1,IMR90:H3K18ac,HUVEC:H3K27ac,HSMM:H3K4me3,IMR90:H2BK20ac,K562:DNase1,IMR90:H4K8ac",,,,0.5644,0.6239,0.7217,0.80,0.92,0.74,,0.000000(N),0.000(P),"0.55,0.55,0.55,0.55,0.55,0.55(T,T,T,T,T,T)",0.0000(T),0.111,1.751901,5.38,5.38,-0.355000,1.437000,5.302000,0.095000,0.763000,1.000000,13.6135
synonymous_variant,COMT,SILENT,NM_000754.3:p.His62His/c.186C>T,caC/caT,LOW,COSM149252(1),0.371605,0.2698,rs4633,,,,,,chr22,19950235,19950235,C,T,het,"synonymous_variant(LOW|SILENT|caC/caT|p.His62His/c.186C>T|271|COMT|protein_coding|CODING|NM_000754.3|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His62His/c.186C>T|271|COMT|protein_coding|CODING|NM_001135161.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His62His/c.186C>T|271|COMT|protein_coding|CODING|NM_001135162.1|3|1),synonymous_variant(LOW|SILENT|caC/caT|p.His12His/c.36C>T|221|COMT|protein_coding|CODING|NM_007310.2|1|1),upstream_gene_variant(MODIFIER||1041|||MIR4761||NON_CODING|NR_039918.1||1)","NHEK:CTCF,NHEK:H3K27ac,HepG2:H3K4me2,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me1,HUVEC:H3K36me3,H1ESC:H3K4me2,K562:H3K36me3,HepG2:H3K27ac,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,HepG2:HEY1,HUVEC:DNase1,IMR90:H3K4me1,K562:Cmyc,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:DNase1,HMEC:DNase1,GM06990:H3K36me3,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:Srf,K562:DNase1",,,,0.4448,0.3804,0.499,0.46,0.34,0.52,,,,,,,,,,,,,,,,
synonymous_variant,COMT,SILENT,NM_000754.3:p.Leu136Leu/c.408C>G,ctC/ctG,LOW,COSM3759038(3),0.296925,0.3413,rs4818,,,,,,chr22,19951207,19951207,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu136Leu/c.408C>G|271|COMT|protein_coding|CODING|NM_000754.3|4|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu136Leu/c.408C>G|271|COMT|protein_coding|CODING|NM_001135161.1|4|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu136Leu/c.408C>G|271|COMT|protein_coding|CODING|NM_001135162.1|4|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu86Leu/c.258C>G|221|COMT|protein_coding|CODING|NM_007310.2|2|1),upstream_gene_variant(MODIFIER||69|||MIR4761||NON_CODING|NR_039918.1||1)","NHEK:H3K27ac,HepG2:H3K4me2,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,GM06990:H3K36me3,HMEC:H3K4me3,K562:Srf",,,,0.3149,0.2954,0.4026,0.33,0.20,0.39,,,,,,,,,,,,,,,,
missense_variant,COMT,MISSENSE,NM_000754.3:p.Val158Met/c.472G>A,Gtg/Atg,MODERATE,,0.369209,0.2798,rs4680,,,1.66(L),-0.9219(T),,chr22,19951271,19951271,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val158Met/c.472G>A|271|COMT|protein_coding|CODING|NM_000754.3|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val158Met/c.472G>A|271|COMT|protein_coding|CODING|NM_001135161.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val158Met/c.472G>A|271|COMT|protein_coding|CODING|NM_001135162.1|4|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val108Met/c.322G>A|221|COMT|protein_coding|CODING|NM_007310.2|2|1),upstream_gene_variant(MODIFIER||5|||MIR4761||NON_CODING|NR_039918.1||1)","NHEK:H3K27ac,HepG2:H3K4me2,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,HSMM:H3K36me3,CD4:H4K20me1,HMEC:H3K4me2,IMR90:H3K36me3,HepG2:H3K4me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,GM06990:H3K36me3,HMEC:H3K4me3,K562:Srf",,RCV000019156.2,,0.4407,0.3775,0.5,0.45,0.31,0.52,,,1.000(P),,0.0000(T),.,1.280712,5.33,-0.75,-0.839000,0.033000,-0.132000,0.006000,0.947000,0.006000,6.5527
missense_variant,ARVCF,MISSENSE,NM_001670.2:p.Arg906Gln/c.2717G>A,cGg/cAg,MODERATE,COSM444706(1),0.616813,0.5337,rs165815,,"0.001,0.001(B,B)",0.55(N),-0.9859(T),,chr22,19959473,19959473,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg906Gln/c.2717G>A|962|ARVCF|protein_coding|CODING|NM_001670.2|18|1),downstream_gene_variant(MODIFIER||1975||271|COMT|protein_coding|CODING|NM_000754.3||1),downstream_gene_variant(MODIFIER||1975||271|COMT|protein_coding|CODING|NM_001135161.1||1),downstream_gene_variant(MODIFIER||1975||271|COMT|protein_coding|CODING|NM_001135162.1||1),downstream_gene_variant(MODIFIER||1975||221|COMT|protein_coding|CODING|NM_007310.2||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.7157,0.621,0.8459,0.74,0.50,0.86,,0.626694(N),0.547(P),"-0.11,-0.05,-0.05,-0.05,-0.11(T,T,T,T,T)",0.0000(T),0.062,0.059172,4.01,1.91,-0.379000,1.046000,0.141000,0.035000,0.985000,0.250000,4.8786
missense_variant,ARVCF,MISSENSE,NM_001670.2:p.Pro220Leu/c.659C>T,cCa/cTa,MODERATE,COSM1751722(9),0.360024,0.2302,rs2073748,,0.001(B),0.69(N),-0.9173(T),,chr22,19968971,19968971,G,A,het,missense_variant(MODERATE|MISSENSE|cCa/cTa|p.Pro220Leu/c.659C>T|962|ARVCF|protein_coding|CODING|NM_001670.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.4826,0.3501,0.3439,0.34,0.35,0.34,,0.002506(N),0.986(P),"1.57,1.57,1.57,1.57,1.57(T,T,T,T,T)",0.0000(T),0.106,0.341913,4.71,1.26,-0.140000,0.719000,0.843000,0.524000,0.293000,0.023000,1.505
synonymous_variant,ARVCF,SILENT,NM_001670.2:p.Ser185Ser/c.555T>C,agT/agC,LOW,COSM3759040(2),0.721446,0.6081,rs2073747,,,,,,chr22,19969075,19969075,A,G,het,synonymous_variant(LOW|SILENT|agT/agC|p.Ser185Ser/c.555T>C|962|ARVCF|protein_coding|CODING|NM_001670.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.7352,0.6455,0.7674,0.81,0.83,0.80,,,,,,,,,,,,,,,,
missense_variant,ARVCF,MISSENSE,NM_001670.2:p.Val175Ala/c.524T>C,gTg/gCg,MODERATE,COSM3759041(3),0.419529,0.2302,rs2240717,,0.0(B),-0.69(N),-0.9247(T),,chr22,19969106,19969106,A,G,het,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val175Ala/c.524T>C|962|ARVCF|protein_coding|CODING|NM_001670.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4867,0.366,0.3459,0.41,0.53,0.34,,0.630796(N),1.000(P),"1.63,1.63,1.63,1.63,1.63(T,T,T,T,T)",0.0000(T),0.011,-0.414989,4.43,0.00231,-2.027000,-0.211000,1.447000,0.004000,0.003000,0.793000,8.9895
synonymous_variant,ZDHHC8,SILENT,NM_001185024.1:p.Asn654Asn/c.1962C>T,aaC/aaT,LOW,COSM3759043(2),0.0830671,0.004,rs9605069,,,,,,chr22,20131115,20131115,C,T,het,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn654Asn/c.1962C>T|778|ZDHHC8|protein_coding|CODING|NM_001185024.1|10|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn654Asn/c.1962C>T|765|ZDHHC8|protein_coding|CODING|NM_013373.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.1687,0.1037,0.168,0.13,0.03,0.18,,,,,,,,,,,,,,,,
synonymous_variant,ZDHHC8,SILENT,NM_001185024.1:p.Ser774Ser/c.2322C>T,agC/agT,LOW,COSM1566005(2),0.134585,0.0873,rs9605070,,,,,,chr22,20134739,20134739,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser774Ser/c.2322C>T|778|ZDHHC8|protein_coding|CODING|NM_001185024.1|11|1),3_prime_UTR_variant(MODIFIER||1816|c.*1816C>T|765|ZDHHC8|protein_coding|CODING|NM_013373.3|11|1),downstream_gene_variant(MODIFIER||1370||144|LOC388849|protein_coding|CODING|NM_001243537.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,GM12878:EBF,NHEK:H3K36me3,K562:DNase1",,,,0.274,0.1138,0.2207,,,,,,,,,,,,,,,,,,,
synonymous_variant,LOC388849,SILENT,NM_001243537.1:p.Tyr103Tyr/c.309C>T,taC/taT,LOW,,0.19369,0.0843,rs175181,,,,-0.9671(T),,chr22,20136263,20136263,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr103Tyr/c.309C>T|144|LOC388849|protein_coding|CODING|NM_001243537.1|6|1),downstream_gene_variant(MODIFIER||733||778|ZDHHC8|protein_coding|CODING|NM_001185024.1||1),downstream_gene_variant(MODIFIER||733||765|ZDHHC8|protein_coding|CODING|NM_013373.3||1)","IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,K562:DNase1",,,,0.3078,0.1859,0.3042,,,,,,0.723(P),,0.0000(T),.,-0.223862,4.46,0.979,0.305000,1.007000,0.215000,0.373000,1.000000,0.865000,3.7621
synonymous_variant,DGCR6L,SILENT,NM_033257.3:p.Thr59Thr/c.177C>T,acC/acT,LOW,COSM149253(2),0.239217,0.1766,rs56616767,1(T),,,-0.9557(T),,chr22,20307256,20307256,G,A,het,synonymous_variant(LOW|SILENT|acC/acT|p.Thr59Thr/c.177C>T|220|DGCR6L|protein_coding|CODING|NM_033257.3|2|1),"CD4:H2AZ,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,K562:CTCF,K562:TFIIIC-110,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,K562:Gabp,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,IMR90:H3K27ac,K562:H3K9ac,HepG2:H3K4me3,NHEK:H3K4me2,HepG2:DNase1,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,K562:Srf,K562:H2AZ,IMR90:H3K4me3,K562:DNase1,K562:E2F4,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.271,0.2205,0.4314,0.35,0.16,0.44,,,0.000(P),1.29(T),0.0000(T),.,-0.658346,1.83,-2.34,0.306000,-0.496000,-1.230000,0.808000,0.989000,0.019000,6.2719
synonymous_variant,SCARF2,SILENT,NM_153334.6:p.Thr777Thr/c.2331G>C,acG/acC,LOW,COSM4135167(2),1,1,rs759612,1(T),0.0(B),-0.895(N),-0.9883(T),,chr22,20779946,20779946,C,G,hom,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr777Thr/c.2331G>C|869|SCARF2|protein_coding|CODING|NM_153334.6|12|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|acG/acC|p.Thr772Thr/c.2316G>C|864|SCARF2|protein_coding|CODING|NM_182895.4|12|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,1,1,1,,,,,0.000154(N),1.000(P),"2.64,2.58(T,T)",0.0000(T),0.066,-1.398674,3.01,1.95,-1.660000,0.147000,3.304000,0.071000,0.970000,1.000000,1.8635
missense_variant,SCARF2,MISSENSE,NM_153334.6:p.Thr777Arg/c.2330C>G,aCg/aGg,MODERATE,COSM4135168(2),1,1,rs759611,1(T),0.0(B),-0.55(N),-0.9458(T),,chr22,20779947,20779947,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr777Arg/c.2330C>G|869|SCARF2|protein_coding|CODING|NM_153334.6|12|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|aCg/aGg|p.Thr772Arg/c.2315C>G|864|SCARF2|protein_coding|CODING|NM_182895.4|12|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,1,1,1,,,,,0.000783(N),1.000(P),"2.33,2.27(T,T)",0.0000(T),0.014,-0.626654,3.01,3.01,-0.388000,0.630000,0.828000,0.066000,0.958000,1.000000,10.0174
splice_acceptor_variant,SCARF2,protein_coding,NM_153334.6:c.2247C>G,,HIGH,COSM3759048(1),1,1,rs2329378,,,,,SCARF2:1.00(2);,chr22,20780031,20780031,G,C,hom,"splice_acceptor_variant(HIGH|||c.2247C>G|869|SCARF2|protein_coding|CODING|NM_153334.6|12|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_acceptor_variant(HIGH|||c.2232C>G|864|SCARF2|protein_coding|CODING|NM_182895.4|12|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_donor_variant(HIGH|||c.2247C>G|869|SCARF2|protein_coding|CODING|NM_153334.6|11|1|WARNING_TRANSCRIPT_INCOMPLETE),splice_donor_variant(HIGH|||c.2232C>G|864|SCARF2|protein_coding|CODING|NM_182895.4|11|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.2246+1C>G|869|SCARF2|protein_coding|CODING|NM_153334.6|11|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.2231+1C>G|864|SCARF2|protein_coding|CODING|NM_182895.4|11|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,SCARF2,SILENT,NM_153334.6:p.Pro729Pro/c.2187G>C,ccG/ccC,LOW,COSM3759049(1),,,rs759610,,,,,,chr22,20780091,20780091,C,G,hom,"synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro729Pro/c.2187G>C|869|SCARF2|protein_coding|CODING|NM_153334.6|11|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ccG/ccC|p.Pro724Pro/c.2172G>C|864|SCARF2|protein_coding|CODING|NM_182895.4|11|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,0.98,0.98,0.98,,,,,,,,,,,,,,,,
synonymous_variant,SCARF2,SILENT,NM_153334.6:p.Arg727Arg/c.2181C>G,cgC/cgG,LOW,COSM3749758(12),,,rs759609,,,,,,chr22,20780097,20780097,G,C,hom,"synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg727Arg/c.2181C>G|869|SCARF2|protein_coding|CODING|NM_153334.6|11|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|cgC/cgG|p.Arg722Arg/c.2166C>G|864|SCARF2|protein_coding|CODING|NM_182895.4|11|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM12878:H3K27me3,HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,,,,0.97,0.96,0.97,,,,,,,,,,,,,,,,
missense_variant,SCARF2,MISSENSE,NM_153334.6:p.Pro174Ser/c.520C>T,Ccc/Tcc,MODERATE,,0.11242,0.1478,rs361566,0.04(D),"0.946,0.946(D,D)",2.31(M),-1.1058(T),,chr22,20785639,20785639,G,A,het,"missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro174Ser/c.520C>T|869|SCARF2|protein_coding|CODING|NM_153334.6|4|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro174Ser/c.520C>T|864|SCARF2|protein_coding|CODING|NM_182895.4|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K4me2,GM12878:H3K36me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,HMEC:H3K4me2,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HMEC:H3K27me3,K562:E2F6,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,NHEK:DNase1,K562:Srf,K562:DNase1",,,,0.1483,0.0879,0.1769,0.11,0.05,0.14,,0.000000(D),0.000(P),"0.86,0.86(T,T)",0.0004(T),0.15,3.833935,4.15,4.15,0.460000,2.044000,3.514000,0.978000,0.994000,1.000000,14.3413
synonymous_variant,PI4KA,SILENT,NM_058004.3:p.Thr1929Thr/c.5787T>C,acT/acC,LOW,COSM149255(1),,,rs5996654,,,,,,chr22,21066789,21066789,A,G,het,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr681Thr/c.2043T>C|854|PI4KA|protein_coding|CODING|NM_002650.2|18|1),synonymous_variant(LOW|SILENT|acT/acC|p.Thr1929Thr/c.5787T>C|2102|PI4KA|protein_coding|CODING|NM_058004.3|50|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SERPIND1,SILENT,NM_000185.3:p.His482His/c.1446T>C,caT/caC,LOW,COSM149258(3),0.521565,0.5645,rs4675,,,,,,chr22,21141300,21141300,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His482His/c.1446T>C|499|SERPIND1|protein_coding|CODING|NM_000185.3|5|1),intron_variant(MODIFIER|||c.2328+6181A>G|2102|PI4KA|protein_coding|CODING|NM_058004.3|19|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3793,0.5504,0.4742,0.50,0.58,0.45,,,,,,,,,,,,,,,,
synonymous_variant,PI4KA,SILENT,NM_058004.3:p.Cys288Cys/c.864C>T,tgC/tgT,LOW,COSM149259(2),0.491414,0.5486,rs165854,,,,,,chr22,21167787,21167787,G,A,het,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys288Cys/c.864C>T|2102|PI4KA|protein_coding|CODING|NM_058004.3|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3323,0.5144,0.4254,0.46,0.57,0.41,,,,,,,,,,,,,,,,
synonymous_variant,SNAP29,SILENT,NM_004782.3:p.Lys6Lys/c.18A>G,aaA/aaG,LOW,COSM444738(3),0.403554,0.372,rs1061064,,,,,,chr22,21213416,21213416,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys6Lys/c.18A>G|258|SNAP29|protein_coding|CODING|NM_004782.3|1|1),upstream_gene_variant(MODIFIER||316||2102|PI4KA|protein_coding|CODING|NM_058004.3||1)","K562:ZBTB7A,NHEK:H3K9ac,K562:Max,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,K562:ETS1,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,K562:Nfe2,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,K562:TFIIIC-110,H1ESC:H3K4me2,GM12878:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,HepG2:H3K27ac,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,HepG2:PolII,K562:Znf263,GM12878:ELF1,GM12878:Yy1,K562:SETDB1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:USF1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Gabp,K562:Cmyc,K562:E2F6,K562:Cjun,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,CD4:H2BK120ac,HSMM:H3K4me3,K562:Nrsf,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,K562:Srf,IMR90:H3K4me3,GM12878:Tcf12,K562:DNase1,GM12878:H2AZ,HeLa-S3:E2F6,K562:E2F4,GM12878:Sin3Ak20",,,,0.6196,0.4323,0.5249,0.42,0.21,0.52,,,,,,,,,,,,,,,,
missense_variant,AIFM3,MISSENSE,NM_144704.2:p.Arg375Cys/c.1123C>T,Cgc/Tgc,MODERATE,,0.00179712,0,rs139501949,0.02(D),"0.91,0.892,0.827,0.827,0.892(D,P,P,P,P)",2.045(M),-0.6625(T),,chr22,21331032,21331032,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg375Cys/c.1123C>T|598|AIFM3|protein_coding|CODING|NM_001018060.2|12|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg381Cys/c.1141C>T|604|AIFM3|protein_coding|CODING|NM_001146288.1|12|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg375Cys/c.1123C>T|605|AIFM3|protein_coding|CODING|NM_144704.2|12|1),non_coding_exon_variant(MODIFIER|||n.1298C>T||AIFM3||CODING|NR_027464.1|11|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,K562:DNase1",,,,0.001,0.0014,0.006,0.01,0.00,0.01,,0.000841(D),1.000(D),"0.36,0.36,0.36,0.36,0.36,0.36(T,T,T,T,T,T)",0.1947(T),0.514,3.635493,4.55,2.24,0.561000,1.097000,4.667000,0.761000,0.688000,1.000000,9.6043
synonymous_variant,AIFM3,SILENT,NM_144704.2:p.Arg378Arg/c.1134A>T,cgA/cgT,LOW,COSM4135186(1),1,1,rs178269,,,,,,chr22,21331043,21331043,A,T,hom,"synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg378Arg/c.1134A>T|598|AIFM3|protein_coding|CODING|NM_001018060.2|12|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg384Arg/c.1152A>T|604|AIFM3|protein_coding|CODING|NM_001146288.1|12|1),synonymous_variant(LOW|SILENT|cgA/cgT|p.Arg378Arg/c.1134A>T|605|AIFM3|protein_coding|CODING|NM_144704.2|12|1),non_coding_exon_variant(MODIFIER|||n.1309A>T||AIFM3||CODING|NR_027464.1|11|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K36me3,K562:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,LZTR1,SILENT,NM_006767.3:p.Ala516Ala/c.1548C>T,gcC/gcT,LOW,,0.000199681,0,,,,,,,chr22,21348491,21348491,C,T,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala516Ala/c.1548C>T|840|LZTR1|protein_coding|CODING|NM_006767.3|14|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0.0014,0,,,,,,,,,,,,,,,,,,,
missense_variant,THAP7,MISSENSE,NM_001008695.1:p.Ala115Pro/c.343G>C,Gct/Cct,MODERATE,COSM149260(3),0.854633,0.8591,rs426938,0.69(T),0.0(B),-0.345(N),-0.9770(T),,chr22,21354970,21354970,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala115Pro/c.343G>C|309|THAP7|protein_coding|CODING|NM_001008695.1|4|1),missense_variant(MODERATE|MISSENSE|Gct/Cct|p.Ala115Pro/c.343G>C|309|THAP7|protein_coding|CODING|NM_030573.2|3|1),upstream_gene_variant(MODIFIER||1241|||THAP7-AS1||NON_CODING|NR_027051.1||1),upstream_gene_variant(MODIFIER||1241|||THAP7-AS1||NON_CODING|NR_027052.1||1),downstream_gene_variant(MODIFIER||1644||840|LZTR1|protein_coding|CODING|NM_006767.3||1)","H1ESC:H3K36me3,K562:H3K4me3,K562:PolII,K562:H3K27ac,GM12878:H3K4me3,K562:CTCF,HUVEC:H3K36me3,K562:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,HUVEC:H3K4me2,K562:E2F6,K562:H3K9ac,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,K562:H3K79me2,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,K562:DNase1",,,,0.8517,0.8818,0.84,0.85,0.85,0.86,,0.887902(N),1.000(P),"-3.75,-3.75(D,D)",0.0000(T),0.024,-1.997352,4.03,0.539,-2.753000,-0.124000,0.221000,0.000000,0.000000,0.091000,3.2048
synonymous_variant,P2RX6,SILENT,NM_005446.3:p.Ala57Ala/c.171T>G,gcT/gcG,LOW,COSM444744(1),0.076278,0.1111,rs2007013,,,,,,chr22,21370237,21370237,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala31Ala/c.93T>G|415|P2RX6|protein_coding|CODING|NM_001159554.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala57Ala/c.171T>G|441|P2RX6|protein_coding|CODING|NM_005446.3|2|1),upstream_gene_variant(MODIFIER||1661|||TUBA3FP||NON_CODING|NR_003608.1||1)","K562:H3K4me3,K562:PolII,GM06990:H3K27me3,GM12878:H3K27me3,K562:H3K4me1,GM12878:H3K36me3,H1ESC:H3K27me3,K562:E2F6,K562:H3K9ac,HepG2:DNase1,HSMM:H3K4me3,K562:H3K4me2,K562:DNase1",,,,0.1196,0.0879,0.0835,0.06,0.02,0.08,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A4,SILENT,NM_004173.2:p.Thr39Thr/c.117G>A,acG/acA,LOW,COSM4135195(1),0.113019,0.0357,rs402931,,,,,,chr22,21385985,21385985,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr39Thr/c.117G>A|635|SLC7A4|protein_coding|CODING|NM_004173.2|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,K562:Srf",,,,0.1002,0.1628,0.2932,0.22,0.06,0.31,,,,,,,,,,,,,,,,
missense_variant,LRRC74B,MISSENSE,NM_001291006.1:p.Ala184Asp/c.551C>A,gCc/gAc,MODERATE,COSM4135196(2),0.183107,0.1091,rs28504593,0.01(D),,,-0.5638(T),,chr22,21403375,21403375,C,A,het,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala184Asp/c.551C>A|392|LRRC74B|protein_coding|CODING|NM_001291006.1|4|1),non_coding_exon_variant(MODIFIER|||n.1512C>A||LRRC74B||CODING|NR_027006.1|3|1),non_coding_exon_variant(MODIFIER|||n.1512C>A||LRRC74B||CODING|NR_110991.1|3|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1994,0.2176,0.2356,,,,,,1.000(D),"0.44,0.44(T,T)",0.2509(T),0.744,2.929835,3.93,3.93,0.484000,1.906000,2.541000,0.779000,0.976000,0.943000,11.8229
synonymous_variant,LRRC74B,SILENT,NM_001291006.1:p.Ala184Ala/c.552C>T,gcC/gcT,LOW,COSM4135197(2),0.183107,0.1091,rs28450680,,,,,,chr22,21403376,21403376,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala184Ala/c.552C>T|392|LRRC74B|protein_coding|CODING|NM_001291006.1|4|1),non_coding_exon_variant(MODIFIER|||n.1513C>T||LRRC74B||CODING|NR_027006.1|3|1),non_coding_exon_variant(MODIFIER|||n.1513C>T||LRRC74B||CODING|NR_110991.1|3|1)","GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1994,0.2176,0.2356,,,,,,,,,,,,,,,,,,,
synonymous_variant,HIC2,SILENT,NM_015094.2:p.Ala286Ala/c.858T>C,gcT/gcC,LOW,,0.940495,0.9375,rs386481316,,,,,,chr22,21800042,21800042,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala286Ala/c.858T>C|615|HIC2|protein_coding|CODING|NM_015094.2|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.771,0.9928,0.994,1.00,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,HIC2,SILENT,NM_015094.2:p.His420His/c.1260T>C,caT/caC,LOW,,0.94349,0.9345,rs128477,,,,,,chr22,21800444,21800444,T,C,hom,synonymous_variant(LOW|SILENT|caT/caC|p.His420His/c.1260T>C|615|HIC2|protein_coding|CODING|NM_015094.2|3|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7894,0.9928,0.994,1.00,1.00,0.99,,,,,,,,,,,,,,,,
missense_variant,CCDC116,MISSENSE,NM_152612.2:p.Glu264Lys/c.790G>A,Gag/Aag,MODERATE,,0.0499201,0.0734,rs35113423,0(D),"0.996,0.82(D,P)",1.495(L),-1.1784(T),,chr22,21989142,21989142,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu264Lys/c.790G>A|613|CCDC116|protein_coding|CODING|NM_152612.2|4|1),"GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,K562:Srf,K562:DNase1",,,,0.1462,0.0058,0.0258,0.01,0.00,0.02,,0.010704(N),1.000(N),1.83(T),0.0106(T),0.234,1.869987,4.11,3.09,0.485000,1.100000,1.973000,0.015000,0.090000,0.801000,7.6997
missense_variant,CCDC116,MISSENSE,NM_152612.2:p.Ala436Thr/c.1306G>A,Gcc/Acc,MODERATE,,0.0503195,0.0744,rs11705259,0.38(T),0.001(B),0(N),-0.9936(T),,chr22,21990823,21990823,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala436Thr/c.1306G>A|613|CCDC116|protein_coding|CODING|NM_152612.2|5|1),"GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.1472,0.0058,0.0258,0.01,0.00,0.02,,0.319081(N),1.000(P),2.78(T),0.0010(T),0.037,1.260634,4.68,-9.36,-1.051000,-2.763000,-1.648000,0.003000,0.000000,0.000000,3.4317
missense_variant,CCDC116,MISSENSE,NM_152612.2:p.Cys519Arg/c.1555T>C,Tgc/Cgc,MODERATE,COSM4135211(1),0.297524,0.122,rs861852,0.31(T),0.0(B),,-0.9856(T),,chr22,21991072,21991072,T,C,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys519Arg/c.1555T>C|613|CCDC116|protein_coding|CODING|NM_152612.2|5|1),"GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.2566,0.1643,0.2485,0.33,0.52,0.23,,,1.000(P),2.85(T),0.0000(T),0.011,-0.714148,3.13,-0.564,-0.320000,-0.265000,0.074000,0.009000,0.000000,0.000000,4.7009
missense_variant,CCDC116,MISSENSE,NM_152612.2:p.Ala535Thr/c.1603G>A,Gcc/Acc,MODERATE,,0.0700879,0.1151,rs11705317,0.43(T),0.027(B),,-0.9999(T),,chr22,21991120,21991120,G,A,het,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala535Thr/c.1603G>A|613|CCDC116|protein_coding|CODING|NM_152612.2|5|1),"GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.1544,0.0058,0.0258,0.03,0.05,0.02,,0.001289(N),1.000(P),2.68(T),0.0005(T),0.006,1.443616,4.09,-0.805,0.491000,-0.137000,-0.266000,0.007000,0.000000,0.000000,6.6712
synonymous_variant,PPM1F,SILENT,NM_014634.3:p.Asn216Asn/c.648C>T,aaC/aaT,LOW,COSM3759066(2),0.247005,0.0863,rs2027789,,,,,,chr22,22287862,22287862,G,A,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn216Asn/c.648C>T|454|PPM1F|protein_coding|CODING|NM_014634.3|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,K562:Znf263,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:Srf",,,,0.1667,0.2939,0.4006,0.36,0.28,0.39,,,,,,,,,,,,,,,,
missense_variant,PPM1F,MISSENSE,NM_014634.3:p.Arg132Cys/c.394C>T,Cgc/Tgc,MODERATE,COSM1415092(1),0.0858626,0.0655,rs9610645,0.19(T),"0.002,0.006,0.004(B,B,B)",0.145(N),-1.0452(T),,chr22,22288560,22288560,G,A,hom,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg132Cys/c.394C>T|454|PPM1F|protein_coding|CODING|NM_014634.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0491,0.1081,0.1223,0.10,0.07,0.12,,0.003003(N),0.354(P),"2.5,2.48,1.91,0.88(T,T,T,T)",0.0007(T),0.07,1.027297,4.99,0.283,0.555000,0.645000,0.430000,0.353000,0.592000,0.148000,1.284
missense_variant,TOP3B,MISSENSE,NM_001282112.1:p.Asp365Asn/c.1093G>A,Gac/Aac,MODERATE,COSM3766690(1),0.0978435,0.0665,rs9610728,0.41(T),"0.006,0.005(B,B)",1.045(L),-1.0327(T),,chr22,22318538,22318538,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp365Asn/c.1093G>A|862|TOP3B|protein_coding|CODING|NM_001282112.1|10|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp365Asn/c.1093G>A|862|TOP3B|protein_coding|CODING|NM_001282113.1|10|1),missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp365Asn/c.1093G>A|862|TOP3B|protein_coding|CODING|NM_003935.4|10|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.0491,0.1095,0.1183,0.12,0.12,0.12,,0.000074(N),0.001(P),"2.0,2.0,2.0(T,T,T)",0.0004(T),0.075,1.463748,5.05,2.85,-0.291000,1.359000,2.847000,0.094000,0.947000,0.990000,12.1463
synonymous_variant,TOP3B,SILENT,NM_001282112.1:p.His320His/c.960C>T,caC/caT,LOW,COSM3766692(1),0.0838658,0.0655,rs9610729,,,,-1.0359(T),,chr22,22318671,22318671,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His320His/c.960C>T|862|TOP3B|protein_coding|CODING|NM_001282112.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His320His/c.960C>T|862|TOP3B|protein_coding|CODING|NM_001282113.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His320His/c.960C>T|862|TOP3B|protein_coding|CODING|NM_003935.4|10|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:Srf,K562:DNase1",,,,0.0491,0.1037,0.1183,0.11,0.08,0.12,,,0.000(P),,0.0016(T),.,1.016764,5.05,-0.173,-0.367000,-0.107000,-0.179000,0.905000,0.998000,0.648000,9.575
synonymous_variant,ZNF280B,SILENT,NM_080764.2:p.Ser506Ser/c.1518A>G,tcA/tcG,LOW,,0.79972,0.7698,rs11109,,,,,,chr22,22842206,22842206,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser506Ser/c.1518A>G|543|ZNF280B|protein_coding|CODING|NM_080764.2|4|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6881,0.8991,0.9076,0.86,0.78,0.90,,,,,,,,,,,,,,,,
missense_variant,ZNF280B,MISSENSE,NM_080764.2:p.Glu256Ala/c.767A>C,gAa/gCa,MODERATE,,0.822484,0.7698,rs2236729,0.33(T),0.077(B),0.29(N),-1.0861(T),,chr22,22842957,22842957,T,G,hom,missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu256Ala/c.767A>C|543|ZNF280B|protein_coding|CODING|NM_080764.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6871,0.9006,0.9085,0.88,0.85,0.90,,,1.000(P),"4.07,4.07(T,T)",0.0000(T),0.152,-0.952877,4.32,2.17,0.533000,0.302000,0.479000,0.550000,0.017000,0.373000,3.7208
synonymous_variant,ZNF280B,SILENT,NM_080764.2:p.Ser202Ser/c.606G>A,tcG/tcA,LOW,,0.746605,0.7421,rs2236730,,,,,,chr22,22843118,22843118,C,T,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser202Ser/c.606G>A|543|ZNF280B|protein_coding|CODING|NM_080764.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6616,0.8516,0.8738,0.80,0.68,0.86,,,,,,,,,,,,,,,,
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Arg488Ser/c.1462C>A,Cgt/Agt,MODERATE,COSM4002100(1),0.471645,0.4107,rs361666,0.15(T),0.008(B),1.1(L),-1.0976(T),,chr22,22868493,22868493,G,T,hom,missense_variant(MODERATE|MISSENSE|Cgt/Agt|p.Arg488Ser/c.1462C>A|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4294,0.732,0.7018,0.55,0.31,0.68,,,0.640(P),5.29(T),0.0000(T),0.105,1.491486,3.76,3.76,0.655000,2.372000,4.885000,0.034000,0.382000,1.000000,13.8754
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Phe486Leu/c.1458C>G,ttC/ttG,MODERATE,COSM4002101(1),0.473642,0.4127,rs361762,1(T),0.0(B),-2.215(N),-0.9948(T),,chr22,22868497,22868497,G,C,hom,missense_variant(MODERATE|MISSENSE|ttC/ttG|p.Phe486Leu/c.1458C>G|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4335,0.732,0.7048,0.55,0.31,0.68,,,1.000(P),5.65(T),0.0000(T),0.036,-2.455226,3.76,0.473,-0.736000,-0.038000,-0.219000,0.029000,0.055000,0.830000,0.7824
synonymous_variant,ZNF280A,SILENT,NM_080740.4:p.Tyr394Tyr/c.1182C>T,taC/taT,LOW,COSM1179797(3),0.47504,0.4137,rs361737,,,,,,chr22,22868773,22868773,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr394Tyr/c.1182C>T|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:DNase1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4335,0.7334,0.7068,0.55,0.31,0.68,,,,,,,,,,,,,,,,
synonymous_variant,ZNF280A,SILENT,NM_080740.4:p.Pro393Pro/c.1179C>T,ccC/ccT,LOW,COSM1179798(3),0.47504,0.4137,rs362173,,,,,,chr22,22868776,22868776,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro393Pro/c.1179C>T|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:DNase1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4335,0.7334,0.7068,0.55,0.31,0.68,,,,,,,,,,,,,,,,
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Asn278Asp/c.832A>G,Aac/Gac,MODERATE,COSM4002102(2),0.473642,0.4137,rs362003,1(T),0.0(B),-2.56(N),-1.0375(T),,chr22,22869123,22869123,T,C,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn278Asp/c.832A>G|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"K562:PolII,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:DNase1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4315,0.7334,0.7028,0.55,0.31,0.68,,,1.000(P),5.64(T),0.0000(T),0.004,-1.412170,3.56,2.54,-0.146000,1.063000,3.227000,0.180000,0.370000,0.995000,7.2962
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Gly249Ala/c.746G>C,gGc/gCc,MODERATE,COSM4002103(1),0.473442,0.4147,rs362124,0.09(T),0.196(B),1.905(M),-1.0777(T),,chr22,22869209,22869209,C,G,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly249Ala/c.746G>C|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"K562:PolII,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:DNase1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4315,0.732,0.7038,0.55,0.31,0.68,,,1.000(P),5.21(T),0.0000(T),0.037,1.091525,3.66,-2.85,-0.165000,-0.404000,-1.278000,0.001000,0.000000,0.000000,2.5252
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Asn246Ser/c.737A>G,aAt/aGt,MODERATE,COSM4002104(1),0.473442,0.4147,rs362132,0.66(T),0.046(B),0.55(N),-1.1038(T),,chr22,22869218,22869218,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn246Ser/c.737A>G|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"K562:PolII,HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:DNase1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4315,0.732,0.7038,0.55,0.31,0.68,,,1.000(P),5.17(T),0.0000(T),0.008,0.857162,3.56,0.0271,0.533000,-0.070000,1.136000,0.042000,0.000000,0.264000,2.4867
synonymous_variant,ZNF280A,SILENT,NM_080740.4:p.Asp139Asp/c.417T>C,gaT/gaC,LOW,COSM4002105(1),0.473842,0.4147,rs361611,,,,,,chr22,22869538,22869538,A,G,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp139Asp/c.417T>C|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4315,0.7334,0.7038,0.55,0.31,0.68,,,,,,,,,,,,,,,,
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Tyr137Ser/c.410A>C,tAc/tCc,MODERATE,COSM4002106(1),0.473842,0.4147,rs361580,1(T),0.0(B),-1.905(N),-0.9469(T),,chr22,22869545,22869545,T,G,hom,missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr137Ser/c.410A>C|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4315,0.7334,0.7038,0.55,0.31,0.68,,,1.000(P),2.47(T),0.0000(T),0.026,-1.384710,3.7,-2.5,-0.127000,-0.684000,0.053000,0.005000,0.000000,0.000000,0.6421
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Asn136Ser/c.407A>G,aAt/aGt,MODERATE,COSM4002107(1),0.473842,0.4147,rs362011,0.75(T),0.036(B),0.755(N),-0.9739(T),,chr22,22869548,22869548,T,C,hom,missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn136Ser/c.407A>G|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4315,0.7334,0.7038,0.55,0.31,0.68,,,1.000(P),1.89(T),0.0000(T),0.003,-0.296399,3.7,0.624,0.528000,0.049000,-0.116000,0.007000,0.000000,0.000000,5.8027
synonymous_variant,ZNF280A,SILENT,NM_080740.4:p.Pro102Pro/c.306C>G,ccC/ccG,LOW,COSM4002108(1),0.617612,0.4395,rs361721,,,,,,chr22,22869649,22869649,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro102Pro/c.306C>G|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4714,0.8012,0.7545,0.70,0.67,0.72,,,,,,,,,,,,,,,,
missense_variant,ZNF280A,MISSENSE,NM_080740.4:p.Lys71Asn/c.213G>T,aaG/aaT,MODERATE,COSM4002109(1),0.473842,0.4147,rs361959,0.34(T),0.0(B),-1.1(N),-1.0264(T),,chr22,22869742,22869742,C,A,hom,missense_variant(MODERATE|MISSENSE|aaG/aaT|p.Lys71Asn/c.213G>T|542|ZNF280A|protein_coding|CODING|NM_080740.4|2|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.4294,0.7349,0.7038,0.55,0.31,0.68,,,1.000(P),1.96(T),0.0000(T),0.009,0.041208,2.98,-0.551,-1.522000,-0.555000,-0.005000,0.030000,0.000000,0.004000,3.9104
missense_variant,PRAME,MISSENSE,NM_001291716.1:p.Trp7Arg/c.19T>C,Tgg/Cgg,MODERATE,COSM85675(5),0.70627,0.752,rs1129172,1(T),0.0(B),0(N),-0.9844(T),,chr22,22899234,22899234,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|509|PRAME|protein_coding|CODING|NM_001291716.1|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|509|PRAME|protein_coding|CODING|NM_206954.2|3|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|509|PRAME|protein_coding|CODING|NM_206956.2|3|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|509|PRAME|protein_coding|CODING|NM_001291715.1|2|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|509|PRAME|protein_coding|CODING|NM_006115.4|3|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|509|PRAME|protein_coding|CODING|NM_206955.2|3|1),missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp7Arg/c.19T>C|509|PRAME|protein_coding|CODING|NM_206953.2|2|1),splice_region_variant(LOW|||c.19T>C|509|PRAME|protein_coding|CODING|NM_001291715.1|2|1),splice_region_variant(LOW|||c.19T>C|509|PRAME|protein_coding|CODING|NM_001291716.1|2|1),splice_region_variant(LOW|||c.19T>C|509|PRAME|protein_coding|CODING|NM_006115.4|3|1),splice_region_variant(LOW|||c.19T>C|509|PRAME|protein_coding|CODING|NM_206953.2|2|1),splice_region_variant(LOW|||c.19T>C|509|PRAME|protein_coding|CODING|NM_206954.2|3|1),splice_region_variant(LOW|||c.19T>C|509|PRAME|protein_coding|CODING|NM_206955.2|3|1),splice_region_variant(LOW|||c.19T>C|509|PRAME|protein_coding|CODING|NM_206956.2|3|1),intron_variant(MODIFIER|||c.-28+731T>C|493|PRAME|protein_coding|CODING|NM_001291717.1|2|1),intron_variant(MODIFIER|||c.-28+731T>C|493|PRAME|protein_coding|CODING|NM_001291719.1|1|1)","K562:Max,K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:H3K4me1,GM12878:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,K562:H3K9me1,K562:Cmyc,K562:H4K20me1,K562:H3K9ac,K562:H3K79me2,K562:HEY1,K562:H3K4me2,K562:DNase1",,,,0.7157,0.6931,0.5944,0.63,0.74,0.57,,,0.588(P),"2.87,2.87,2.87,2.87,2.87,2.87,2.87,2.87,2.87(T,T,T,T,T,T,T,T,T)",0.0000(T),0.404,-0.922440,2.78,2.78,-0.213000,0.765000,0.671000,0.002000,0.392000,0.547000,5.8996
missense_variant,GGTLC2,MISSENSE,NM_001282879.1:p.Glu70Gly/c.209A>G,gAg/gGg,MODERATE,COSM1130493(1),0.953075,1,rs2904923,1(T),"0.0,0.0(B,B)",-4.51(N),-0.9252(T),,chr22,22989256,22989256,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu70Gly/c.209A>G|252|GGTLC2|protein_coding|CODING|NM_001282879.1|3|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu70Gly/c.209A>G|218|GGTLC2|protein_coding|CODING|NM_199127.2|2|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.9571,0.9452,0.8519,0.88,0.97,0.83,,0.000002(N),1.000(P),"6.35,6.35(T,T)",0.0000(T),0.056,-1.312951,.,.,0.000000,-0.000000,4.302000,0.000000,0.000000,1.000000,2.6652
missense_variant,GGTLC2,MISSENSE,NM_001282879.1:p.Asp75Asn/c.223G>A,Gat/Aat,MODERATE,,0.16893,0.2123,rs2330126,1(T),"0.007,0.003(B,B)",0.11(N),-0.8933(T),,chr22,22989270,22989270,G,A,het,"missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp75Asn/c.223G>A|252|GGTLC2|protein_coding|CODING|NM_001282879.1|3|1),missense_variant(MODERATE|MISSENSE|Gat/Aat|p.Asp75Asn/c.223G>A|218|GGTLC2|protein_coding|CODING|NM_199127.2|2|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.2587,0.1066,0.2296,,,,,0.000104(N),0.652(D),"3.75,3.75(T,T)",0.0000(T),0.084,-1.492819,.,.,0.000000,-0.000000,1.893000,0.000000,0.000000,1.000000,5.8178
synonymous_variant,GGTLC2,SILENT,NM_001282879.1:p.Asp78Asp/c.234T>C,gaT/gaC,LOW,COSM3774006(2),0.174321,0.2143,rs3966363,,,,,,chr22,22989281,22989281,T,C,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp78Asp/c.234T>C|252|GGTLC2|protein_coding|CODING|NM_001282879.1|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp78Asp/c.234T>C|218|GGTLC2|protein_coding|CODING|NM_199127.2|2|1)","GM12878:H3K36me3,K562:H3K27me3",,,,0.2618,0.1095,0.2296,0.13,0.07,0.16,,,,,,,,,,,,,,,,
synonymous_variant,RTDR1,SILENT,NM_014433.2:p.Leu50Leu/c.148T>C,Ttg/Ctg,LOW,COSM149261(1),0.52476,0.4038,rs4822360,,,,,,chr22,23482460,23482460,A,G,het,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu50Leu/c.148T>C|348|RTDR1|protein_coding|CODING|NM_014433.2|2|1),"GM12878:Pax5,GM12878:H3K36me3,GM12878:H3K4me1,K562:Srf",,,,0.4366,0.5706,0.5547,0.59,0.64,0.56,,,,,,,,,,,,,,,,
missense_variant,RTDR1,MISSENSE,NM_014433.2:p.Thr42Met/c.125C>T,aCg/aTg,MODERATE,,0.0824681,0.0387,rs35211242,0.09(T),"0.999,0.998(D,D)",2.425(M),-1.0255(T),,chr22,23482483,23482483,G,A,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr42Met/c.125C>T|348|RTDR1|protein_coding|CODING|NM_014433.2|2|1),"GM12878:Pax5,GM12878:H3K36me3,GM12878:H3K4me1,K562:Srf",,,,0.1442,0.0879,0.1471,0.12,0.04,0.16,,0.001127(N),0.004(P),"2.19,0.65,2.19(T,T,T)",0.0016(T),0.524,2.218034,4.91,3.89,0.561000,1.214000,2.293000,0.039000,0.054000,0.994000,10.8955
missense_variant,RAB36,MISSENSE,NM_004914.2:p.Asn308Asp/c.922A>G,Aat/Gat,MODERATE,,0.555312,0.6448,rs5759612,1(T),"0.0,0.0(B,B)",-1.5(N),-0.9109(T),,chr22,23503170,23503170,A,G,hom,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn308Asp/c.922A>G|333|RAB36|protein_coding|CODING|NM_004914.2|10|1),"GM12878:H3K36me3,K562:Znf263,IMR90:H3K36me3,K562:H3K27me3,K562:H4K20me1,K562:DNase1",,,,0.6104,0.4654,0.5119,0.51,0.55,0.50,,0.035086(N),1.000(P),"-0.02,0.38(T,T)",0.0000(T),0.01,-0.536108,5.67,3.59,-0.119000,0.457000,0.812000,0.283000,0.980000,0.332000,9.9112
missense_variant,BCR,MISSENSE,NM_004327.3:p.Asn796Ser/c.2387A>G,aAt/aGt,MODERATE,COSM3759076(1),0.79373,0.5377,rs140504,1(T),"0.003,0.002,0.002,0.001(B,B,B,B)",-0.84(N),-0.9644(T),,chr22,23627369,23627369,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn796Ser/c.2387A>G|1271|BCR|protein_coding|CODING|NM_004327.3|10|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn796Ser/c.2387A>G|1227|BCR|protein_coding|CODING|NM_021574.2|10|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,K562:Znf263,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.7178,0.8573,0.8748,0.88,0.94,0.85,,0.000136(N),0.000(P),"1.85,1.85(T,T)",0.0000(T),0.005,-0.107306,5.06,1.63,-0.119000,-0.032000,0.354000,0.893000,0.989000,0.058000,8.9564
synonymous_variant,BCR,SILENT,NM_004327.3:p.Asn900Asn/c.2700T>C,aaT/aaC,LOW,COSM3759077(2),0.322684,0.0754,rs2227939,,,,,,chr22,23631801,23631801,T,C,het,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn900Asn/c.2700T>C|1271|BCR|protein_coding|CODING|NM_004327.3|13|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn900Asn/c.2700T>C|1227|BCR|protein_coding|CODING|NM_021574.2|13|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,K562:DNase1",,,,0.2996,0.3242,0.2982,0.37,0.51,0.30,,,0.000(P),,,.,0.797066,4.78,2.7,-0.213000,0.703000,0.565000,0.543000,1.000000,0.999000,5.5429
missense_variant,DRICH1,MISSENSE,NM_016449.3:p.Ile4Thr/c.11T>C,aTa/aCa,MODERATE,,0.164137,0.2371,rs3827318,0.74(T),0.702(P),-0.145(N),-1.0794(T),,chr22,23974200,23974200,A,G,het,missense_variant(MODERATE|MISSENSE|aTa/aCa|p.Ile4Thr/c.11T>C|229|DRICH1|protein_coding|CODING|NM_016449.3|1|1),,,,,0.1401,0.1383,0.1133,0.13,0.17,0.11,,,1.000(P),1.55(T),0.0000(T),0.128,-0.305118,0.14,0.14,0.155000,0.157000,0.238000,0.018000,0.018000,0.021000,.
missense_variant,RGL4,MISSENSE,NM_153615.1:p.Gln24Arg/c.71A>G,cAg/cGg,MODERATE,COSM4156036(2),0.55012,0.6071,rs738786,0.93(T),"0.027,0.403(B,B)",0.695(N),-0.9652(T),,chr22,24034288,24034288,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln24Arg/c.71A>G|473|RGL4|protein_coding|CODING|NM_153615.1|1|1),intron_variant(MODIFIER|||n.2562-1745T>C||GUSBP11||NON_CODING|NR_024448.2|8|1)","H1ESC:H3K36me3,CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6145,0.6167,0.5328,0.49,0.45,0.52,,0.059673(U),1.000(P),"1.56,1.56(T,T)",0.0000(T),0.109,0.868317,1.77,-0.665,0.443000,-0.151000,-0.294000,0.005000,0.000000,0.490000,2.363
missense_variant,RGL4,MISSENSE,NM_153615.1:p.His241Tyr/c.721C>T,Cac/Tac,MODERATE,,0.774561,0.6687,rs2070446,1(T),"0.003,0.004,0.003(B,B,B)",-0.55(N),-1.0019(T),,chr22,24035970,24035970,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cac/Tac|p.His241Tyr/c.721C>T|473|RGL4|protein_coding|CODING|NM_153615.1|4|1),intron_variant(MODIFIER|||n.2561+336G>A||GUSBP11||NON_CODING|NR_024448.2|8|1)","H1ESC:H3K36me3,CD4:H2BK5ac,CD4:H2AK5ac,CD4:H4K91ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.7117,0.768,0.7018,0.78,0.93,0.71,,0.502274(N),1.000(P),"1.58,1.58,1.58(T,T,T)",0.0000(T),0.09,-1.483311,2.95,-1.06,-0.408000,-0.608000,1.616000,0.000000,0.000000,1.000000,8.4529
synonymous_variant,RGL4,SILENT,NM_153615.1:p.Ser314Ser/c.942G>A,tcG/tcA,LOW,COSM3759078(1),0.11881,0.2798,rs2070447,,,,,,chr22,24036563,24036563,G,A,het,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser314Ser/c.942G>A|473|RGL4|protein_coding|CODING|NM_153615.1|5|1),non_coding_exon_variant(MODIFIER|||n.2304C>T||GUSBP11||NON_CODING|NR_024448.2|8|1)","H1ESC:H3K36me3,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,NH-A:H3K36me3,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H2BK12ac",,,,0.1391,0.1009,0.0915,0.07,0.03,0.09,,,,,,,,,,,,,,,,
missense_variant,RGL4,MISSENSE,NM_153615.1:p.Val378Ala/c.1133T>C,gTc/gCc,MODERATE,COSM1599892(3),0.76857,0.6964,rs1007298,1(T),"0.0,0.0,0.0(B,B,B)",-2.08(N),-0.9973(T),,chr22,24038847,24038847,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val378Ala/c.1133T>C|473|RGL4|protein_coding|CODING|NM_153615.1|7|1),intron_variant(MODIFIER|||n.1163-1143A>G||GUSBP11||NON_CODING|NR_024448.2|7|1)","CD4:H4K16ac,CD4:H3K18ac,CD4:H2BK5ac,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K8ac,CD4:H3K4me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36ac,GM12878:PolII,NHEK:H3K36me3,CD4:H3K4ac,HepG2:H3K36me3,CD4:H3K4me2,CD4:H2BK120ac,GM06990:H3K36me3,CD4:H3K9ac,GM06990:DNase1,CD4:H2BK12ac",,,,0.7321,0.7594,0.6799,0.76,0.89,0.69,,0.609879(N),1.000(P),"1.59,1.59,1.59(T,T,T)",0.0000(T),0.104,-0.814429,2.02,-0.409,-0.246000,-0.372000,0.711000,0.385000,0.027000,0.976000,3.1695
synonymous_variant,ZNF70,SILENT,NM_021916.2:p.Leu434Leu/c.1302G>A,ctG/ctA,LOW,,0.0135783,0,rs41277301,,,,,,chr22,24086026,24086026,C,T,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu434Leu/c.1302G>A|446|ZNF70|protein_coding|CODING|NM_021916.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0092,0.0288,0.0348,0.03,0.01,0.04,,,,,,,,,,,,,,,,
synonymous_variant,ZNF70,SILENT,NM_021916.2:p.Ile407Ile/c.1221T>C,atT/atC,LOW,COSM3759079(1),0.55651,0.6865,rs5759985,,,,,,chr22,24086107,24086107,A,G,het,synonymous_variant(LOW|SILENT|atT/atC|p.Ile407Ile/c.1221T>C|446|ZNF70|protein_coding|CODING|NM_021916.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4182,0.4006,0.3579,0.49,0.74,0.36,,,,,,,,,,,,,,,,
synonymous_variant,ZNF70,SILENT,NM_021916.2:p.Val3Val/c.9T>G,gtT/gtG,LOW,COSM3759080(2),0.166134,0.2966,rs2070451,,,,,,chr22,24087319,24087319,A,C,het,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val3Val/c.9T>G|446|ZNF70|protein_coding|CODING|NM_021916.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1176,0.1225,0.1034,0.12,0.18,0.09,,,,,,,,,,,,,,,,
synonymous_variant,CHCHD10,SILENT,NM_001301339.1:p.Tyr111Tyr/c.333C>T,taC/taT,LOW,COSM3766695(4),0.729832,0.6647,rs80027270,0(D),,,-1.0031(T),,chr22,24108412,24108412,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr104Tyr/c.312C>T|142|CHCHD10|protein_coding|CODING|NM_213720.2|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr111Tyr/c.333C>T|149|CHCHD10|protein_coding|CODING|NM_001301339.1|3|1),downstream_gene_variant(MODIFIER||362||148|C22orf15|protein_coding|CODING|NM_182520.2||1),non_coding_exon_variant(MODIFIER|||n.357C>T||CHCHD10||CODING|NR_125755.1|3|1),non_coding_exon_variant(MODIFIER|||n.190C>T||CHCHD10||CODING|NR_125756.1|2|1)","H1ESC:H3K36me3,GM12878:H3K4me3,GM12878:H3K36me3,K562:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,HMEC:H3K27me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5726,0.8458,0.837,0.81,0.75,0.83,,,0.000(P),,0.0000(T),.,3.866735,4.35,-5.17,-0.489000,-1.034000,0.271000,0.975000,0.886000,0.974000,13.858
synonymous_variant,CHCHD10,SILENT,NM_001301339.1:p.Pro16Pro/c.48A>C,ccA/ccC,LOW,COSM4156038(2),0.875799,0.7758,rs179468,,,,,,chr22,24109774,24109774,T,G,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro16Pro/c.48A>C|149|CHCHD10|protein_coding|CODING|NM_001301339.1|2|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro16Pro/c.48A>C|142|CHCHD10|protein_coding|CODING|NM_213720.2|2|1),downstream_gene_variant(MODIFIER||1724||148|C22orf15|protein_coding|CODING|NM_182520.2||1),intron_variant(MODIFIER|||n.139+247A>C||CHCHD10||CODING|NR_125756.1|1|1),intron_variant(MODIFIER|||n.140-47A>C||CHCHD10||CODING|NR_125755.1|1|1)","K562:Max,K562:H3K4me3,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,H1ESC:H3K27me3,HepG2:H3K27ac,H1ESC:DNase1,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Cmyc,HUVEC:Cmyc,H1ESC:Yy1,HeLa-S3:PolII,NHEK:H3K27me3,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,HepG2:H3K36me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HepG2:H3K27me3,HepG2:Yy1,HMEC:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.7975,0.8732,0.9135,,,,,,,,,,,,,,,,,,,
missense_variant,MMP11,MISSENSE,NM_005940.3:p.Ala38Val/c.113C>T,gCc/gTc,MODERATE,COSM1751756(10),0.708267,0.6984,rs738792,0.32(T),0.025(B),0.205(N),-0.9743(T),,chr22,24121378,24121378,C,T,hom,missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala38Val/c.113C>T|488|MMP11|protein_coding|CODING|NM_005940.3|2|1),IMR90:H3K36me3,,,,0.681,0.8487,0.9294,0.80,0.58,0.92,,0.000002(N),1.000(P),2.59(T),0.0000(T),0.06,1.626057,4.32,0.812,0.430000,0.138000,0.244000,0.082000,0.074000,0.000000,8.3614
synonymous_variant,CABIN1,SILENT,NM_001199281.1:p.Cys571Cys/c.1713T>C,tgT/tgC,LOW,,0.932308,0.9236,rs762273,,,,,,chr22,24459438,24459438,T,C,hom,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys571Cys/c.1713T>C|2220|CABIN1|protein_coding|CODING|NM_001199281.1|14|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys521Cys/c.1563T>C|2170|CABIN1|protein_coding|CODING|NM_001201429.1|13|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys571Cys/c.1713T>C|2220|CABIN1|protein_coding|CODING|NM_012295.3|14|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8701,0.8948,0.9414,0.96,0.99,0.94,,,,,,,,,,,,,,,,
missense_variant,CABIN1,MISSENSE,NM_001199281.1:p.Arg853Gln/c.2558G>A,cGg/cAg,MODERATE,COSM3759087(1),0.0613019,0.1587,rs17854874,0.31(T),"0.638,0.435(P,B)",1.845(L),-1.1322(T),,chr22,24468386,24468386,G,A,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg853Gln/c.2558G>A|2220|CABIN1|protein_coding|CODING|NM_001199281.1|18|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg803Gln/c.2408G>A|2170|CABIN1|protein_coding|CODING|NM_001201429.1|17|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg853Gln/c.2558G>A|2220|CABIN1|protein_coding|CODING|NM_012295.3|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0225,0.0317,0.0974,0.05,0.02,0.07,,0.000000(D),0.000(P),"0.34,0.34,0.34(T,T,T)",0.0008(T),0.457,3.148196,4.57,4.57,0.650000,2.300000,5.903000,0.445000,0.989000,1.000000,16.8003
synonymous_variant,CABIN1,SILENT,NM_001199281.1:p.Ala1915Ala/c.5745C>T,gcC/gcT,LOW,COSM3759088(2),0.0720847,0.1677,rs17854875,0.27(T),,,-1.0631(T),,chr22,24564477,24564477,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1915Ala/c.5745C>T|2220|CABIN1|protein_coding|CODING|NM_001199281.1|33|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1865Ala/c.5595C>T|2170|CABIN1|protein_coding|CODING|NM_001201429.1|32|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1915Ala/c.5745C>T|2220|CABIN1|protein_coding|CODING|NM_012295.3|33|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0399,0.0375,0.1213,0.07,0.02,0.09,,,0.000(P),,0.0002(T),.,0.785733,5.28,-10.6,-1.096000,-2.333000,-1.153000,0.927000,0.052000,0.014000,10.3646
missense_variant,SUSD2,MISSENSE,NM_019601.3:p.Arg34His/c.101G>A,cGc/cAc,MODERATE,COSM1178084(4),,,rs62231981,0.06(T),0.133(B),1.6(L),-0.8599(T),,chr22,24579049,24579049,G,A,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg34His/c.101G>A|822|SUSD2|protein_coding|CODING|NM_019601.3|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,0.050071(N),0.907(N),-0.0(T),0.1333(T),0.386,2.126204,3.76,2.74,0.449000,2.151000,1.506000,0.650000,0.987000,0.601000,5.2886
missense_variant,SUSD2,MISSENSE,NM_019601.3:p.Gly70Val/c.209G>T,gGa/gTa,MODERATE,COSM1180264(3),,,rs200945728,0.31(T),0.999(D),2.33(M),0.1186(D),,chr22,24579157,24579157,G,T,het,missense_variant(MODERATE|MISSENSE|gGa/gTa|p.Gly70Val/c.209G>T|822|SUSD2|protein_coding|CODING|NM_019601.3|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-1.28(T),0.6170(D),0.947,3.942095,3.33,3.33,0.449000,2.208000,3.237000,0.811000,0.983000,1.000000,13.1227
synonymous_variant,SUSD2,SILENT,NM_019601.3:p.Gly70Gly/c.210A>C,ggA/ggC,LOW,COSM1180265(1),,,rs201628954,,,,,,chr22,24579158,24579158,A,C,het,synonymous_variant(LOW|SILENT|ggA/ggC|p.Gly70Gly/c.210A>C|822|SUSD2|protein_coding|CODING|NM_019601.3|2|1),"GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,GGT5,SILENT,NM_001099781.1:p.Thr78Thr/c.234C>T,acC/acT,LOW,,0.019369,0,rs116976546,,,,,,chr22,24629912,24629912,G,A,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr78Thr/c.234C>T|587|GGT5|protein_coding|CODING|NM_001099781.1|2|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr78Thr/c.234C>T|554|GGT5|protein_coding|CODING|NM_001099782.1|2|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr78Thr/c.234C>T|586|GGT5|protein_coding|CODING|NM_004121.2|2|1)",HUVEC:H3K36me3,,,,0.0348,0.0202,0.0427,0.04,0.01,0.05,,,,,,,,,,,,,,,,
missense_variant,SPECC1L,MISSENSE,NM_001145468.3:p.Asp301Gly/c.902A>G,gAt/gGt,MODERATE,,1,1,rs204710,0.86(T),"0.0,0.0(B,B)",0.345(N),-0.9470(T),,chr22,24717850,24717850,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp301Gly/c.902A>G|1117|SPECC1L|protein_coding|CODING|NM_001145468.3|4|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp301Gly/c.902A>G|1078|SPECC1L|protein_coding|CODING|NM_001254732.2|4|1),missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp301Gly/c.902A>G|1117|SPECC1L|protein_coding|CODING|NM_015330.4|5|1),non_coding_exon_variant(MODIFIER|||n.1210A>G||SPECC1L-ADORA2A||NON_CODING|NR_103546.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000001(N),0.992(P),"0.27,2.76,0.27,3.27(T,T,T,T)",0.0000(T),0.353,-0.228480,4.72,4.72,-0.642000,1.334000,6.930000,0.959000,0.729000,1.000000,12.9742
missense_variant,SPECC1L,MISSENSE,NM_001145468.3:p.Val951Met/c.2851G>A,Gtg/Atg,MODERATE,,0.9998,0.999,rs204718,0.49(T),"0.0,0.0(B,B)",0(N),-1.0045(T),,chr22,24761467,24761467,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val951Met/c.2851G>A|1117|SPECC1L|protein_coding|CODING|NM_001145468.3|12|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val951Met/c.2851G>A|1078|SPECC1L|protein_coding|CODING|NM_001254732.2|12|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val17Met/c.49G>A|183|SPECC1L|protein_coding|CODING|NM_001254733.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val951Met/c.2851G>A|1117|SPECC1L|protein_coding|CODING|NM_015330.4|13|1),non_coding_exon_variant(MODIFIER|||n.3281G>A||SPECC1L-ADORA2A||NON_CODING|NR_103546.1|14|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000317(N),1.000(P),"0.31,0.31,3.3(T,T,T)",0.0000(T),0.153,0.593649,5.55,3.35,-0.332000,0.365000,1.826000,0.990000,0.999000,1.000000,5.5988
synonymous_variant,ADORA2A,SILENT,NM_000675.5:p.Tyr361Tyr/c.1083T>C,taT/taC,LOW,,0.442292,0.4722,rs5751876,,,,,,chr22,24837301,24837301,T,C,het,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr361Tyr/c.1083T>C|412|ADORA2A|protein_coding|CODING|NM_000675.5|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr361Tyr/c.1083T>C|412|ADORA2A|protein_coding|CODING|NM_001278497.1|4|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr361Tyr/c.1083T>C|412|ADORA2A|protein_coding|CODING|NM_001278498.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr361Tyr/c.1083T>C|412|ADORA2A|protein_coding|CODING|NM_001278499.1|3|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr361Tyr/c.1083T>C|412|ADORA2A|protein_coding|CODING|NM_001278500.1|3|1),intron_variant(MODIFIER|||n.574+659A>G||ADORA2A-AS1||NON_CODING|NR_028484.1|4|1),intron_variant(MODIFIER|||n.1011+659A>G||ADORA2A-AS1||NON_CODING|NR_028483.1|6|1),non_coding_exon_variant(MODIFIER|||n.936T>C||ADORA2A||CODING|NR_103543.1|2|1),non_coding_exon_variant(MODIFIER|||n.916T>C||ADORA2A||CODING|NR_103544.1|2|1),non_coding_exon_variant(MODIFIER|||n.5262T>C||SPECC1L-ADORA2A||NON_CODING|NR_103546.1|20|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,CD4:H2BK5me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3364,0.5418,0.6093,0.52,0.36,0.60,,,,,,,,,,,,,,,,
synonymous_variant,SNRPD3,SILENT,NM_001278656.1:p.Ala101Ala/c.303T>C,gcT/gcC,LOW,COSM4156058(2),0.681709,0.8522,rs4597,,,,,,chr22,24964128,24964128,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala101Ala/c.303T>C|126|SNRPD3|protein_coding|CODING|NM_001278656.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala101Ala/c.303T>C|126|SNRPD3|protein_coding|CODING|NM_004175.4|3|1),intron_variant(MODIFIER|||n.567-3756T>C||SNRPD3||CODING|NR_103819.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.7925,0.8539,0.72,0.50,0.83,,,,,,,,,,,,,,,,
missense_variant,PIWIL3,MISSENSE,NM_001008496.3:p.Val471Ile/c.1411G>A,Gtt/Att,MODERATE,,0.202676,0.1478,rs11703684,0.42(T),"0.023,0.083,0.061(B,B,B)",0.69(N),-0.9251(T),,chr22,25144912,25144912,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val471Ile/c.1411G>A|882|PIWIL3|protein_coding|CODING|NM_001008496.3|12|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val471Ile/c.1411G>A|873|PIWIL3|protein_coding|CODING|NM_001255975.1|12|1),non_coding_exon_variant(MODIFIER|||n.2042G>A||PIWIL3||CODING|NR_045648.1|13|1),non_coding_exon_variant(MODIFIER|||n.1915G>A||PIWIL3||CODING|NR_045649.1|13|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.3804,0.2097,0.19,0.15,0.21,,0.119081(N),1.000(P),"3.69,3.69,3.69(T,T,T)",0.0000(T),0.018,-0.067331,2.29,-3.89,0.313000,-0.807000,0.004000,0.078000,0.000000,0.421000,4.2885
missense_variant,PIWIL3,MISSENSE,NM_001008496.3:p.Val418Met/c.1252G>A,Gtg/Atg,MODERATE,,0.926518,0.9405,rs1892723,1(T),"0.003,0.0(B,B)",-3.165(N),-1.0229(T),,chr22,25145453,25145453,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val418Met/c.1252G>A|882|PIWIL3|protein_coding|CODING|NM_001008496.3|11|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val418Met/c.1252G>A|873|PIWIL3|protein_coding|CODING|NM_001255975.1|11|1),non_coding_exon_variant(MODIFIER|||n.1883G>A||PIWIL3||CODING|NR_045648.1|12|1),non_coding_exon_variant(MODIFIER|||n.1756G>A||PIWIL3||CODING|NR_045649.1|12|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8701,0.8919,0.8996,0.94,0.98,0.92,,0.000000(N),1.000(P),"3.3,3.3,3.3(T,T,T)",0.0000(T),0.19,-2.086393,2.81,1.74,-0.893000,-0.034000,1.783000,0.013000,0.001000,0.982000,5.9639
missense_variant,PIWIL3,MISSENSE,NM_001008496.3:p.Cys412Arg/c.1234T>C,Tgt/Cgt,MODERATE,COSM3759090(1),0.672923,0.7312,rs1892722,1(T),"0.0,0.0,0.0(B,B,B)",-3.205(N),-0.9431(T),,chr22,25145471,25145471,A,G,het,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys412Arg/c.1234T>C|882|PIWIL3|protein_coding|CODING|NM_001008496.3|11|1),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys412Arg/c.1234T>C|873|PIWIL3|protein_coding|CODING|NM_001255975.1|11|1),non_coding_exon_variant(MODIFIER|||n.1865T>C||PIWIL3||CODING|NR_045648.1|12|1),non_coding_exon_variant(MODIFIER|||n.1738T>C||PIWIL3||CODING|NR_045649.1|12|1)","HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.682,0.7061,0.5696,0.62,0.66,0.60,,0.003758(N),1.000(P),"3.45,3.45,3.45(T,T,T)",0.0000(T),0.184,-1.989360,2.81,-4.97,-0.684000,-1.121000,-0.216000,0.266000,0.000000,0.022000,0.4211
synonymous_variant,KIAA1671,SILENT,NM_001145206.1:p.Glu1672Glu/c.5016G>A,gaG/gaA,LOW,,0.123403,0.0913,rs12168578,,,,,,chr22,25573431,25573431,G,A,het,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1672Glu/c.5016G>A|1806|KIAA1671|protein_coding|CODING|NM_001145206.1|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2117,0.0591,0.0805,0.12,0.16,0.10,,,,,,,,,,,,,,,,
missense_variant,CRYBB3,MISSENSE,NM_004076.4:p.His113Asp/c.337C>G,Cat/Gat,MODERATE,COSM3733888(1),0.664137,0.9296,rs9608378,0.59(T),0.0(B),-1.66(N),-0.9629(T),,chr22,25601196,25601196,C,G,het,missense_variant(MODERATE|MISSENSE|Cat/Gat|p.His113Asp/c.337C>G|211|CRYBB3|protein_coding|CODING|NM_004076.4|5|1),NHEK:H3K36me3,,,,0.6953,0.732,0.6402,0.58,0.47,0.63,,0.001282(N),0.000(P),-0.77(T),0.0000(T),0.051,0.814062,5.3,5.3,-0.225000,1.242000,7.097000,0.053000,0.367000,1.000000,14.878
missense_variant,CRYBB2,MISSENSE,NM_000496.2:p.Gln194Lys/c.580C>A,Cag/Aag,MODERATE,,,,,0.21(T),0.311(B),1.955(M),-0.3839(T),,chr22,25627701,25627701,C,A,het,missense_variant(MODERATE|MISSENSE|Cag/Aag|p.Gln194Lys/c.580C>A|205|CRYBB2|protein_coding|CODING|NM_000496.2|6|1),"HUVEC:H3K27me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,,,,,0.000000(D),1.000(D),-0.95(T),0.3534(T),0.659,1.839799,3.98,3.98,0.462000,1.763000,5.417000,0.025000,1.000000,1.000000,15.0574
synonymous_variant,LRP5L,SILENT,NM_001135772.1:p.Arg113Arg/c.339C>T,cgC/cgT,LOW,,0.0816693,0.001,rs9624807,,,,,,chr22,25753321,25753321,G,A,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg113Arg/c.339C>T|252|LRP5L|protein_coding|CODING|NM_001135772.1|4|1),synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg113Arg/c.339C>T|252|LRP5L|protein_coding|CODING|NM_182492.2|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0777,0.0663,0.1133,0.12,0.14,0.11,,,,,,,,,,,,,,,,
missense_variant,MYO18B,MISSENSE,NM_032608.5:p.Gly44Glu/c.131G>A,gGg/gAg,MODERATE,,0.701677,0.8185,rs133885,1(T),0.0(B),-2.125(N),-0.9421(T),,chr22,26159289,26159289,G,A,hom,missense_variant(MODERATE|MISSENSE|gGg/gAg|p.Gly44Glu/c.131G>A|2567|MYO18B|protein_coding|CODING|NM_032608.5|3|1),"K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",Mathematical_ability_in_children_with_dyslexia,,,0.5859,0.6585,0.4374,0.57,0.85,0.44,,0.001076(N),0.998(P),"-1.38,-1.38,-1.4(T,T,T)",0.0000(T),0.16,0.118450,5.09,5.09,-0.516000,0.892000,3.620000,0.936000,1.000000,1.000000,8.8503
missense_variant,MYO18B,MISSENSE,NM_032608.5:p.Trp547Cys/c.1641G>C,tgG/tgC,MODERATE,,0.938498,0.8869,rs3859866,0.14(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.995(N),-0.9521(T),,chr22,26166900,26166900,G,C,hom,missense_variant(MODERATE|MISSENSE|tgG/tgC|p.Trp547Cys/c.1641G>C|2567|MYO18B|protein_coding|CODING|NM_032608.5|6|1),"K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8906,0.9841,0.9871,0.98,0.96,0.99,,0.003163(N),0.087(P),"-0.56,-0.56,-0.56(T,T,T)",0.0000(T),0.165,-2.341963,4.74,3.72,-0.647000,0.434000,-0.260000,0.090000,0.526000,0.000000,5.6853
missense_variant,MYO18B,MISSENSE,NM_032608.5:p.Trp661Arg/c.1981T>C,Tgg/Cgg,MODERATE,,0.932508,0.8849,rs5761170,1(T),"0.0,0.0(B,B)",,-0.9438(T),,chr22,26173661,26173661,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp661Arg/c.1981T>C|2567|MYO18B|protein_coding|CODING|NM_032608.5|8|1),"HUVEC:H3K27me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.8947,0.9856,0.9861,0.97,0.94,0.99,,0.000287(N),0.998(P),"-2.18,-2.18,-2.18(D,D,D)",0.0000(T),0.059,-2.191719,5.38,-0.0333,-0.821000,-0.026000,0.713000,0.004000,0.987000,0.895000,6.0013
synonymous_variant,MYO18B,SILENT,NM_032608.5:p.Leu813Leu/c.2439C>G,ctC/ctG,LOW,,0.684305,0.879,rs738642,,,,,,chr22,26193982,26193982,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu813Leu/c.2439C>G|2567|MYO18B|protein_coding|CODING|NM_032608.5|12|1),"HSMM:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.8078,0.7363,0.7217,0.65,0.46,0.74,,,,,,,,,,,,,,,,
synonymous_variant,MYO18B,SILENT,NM_032608.5:p.Gly834Gly/c.2502T>C,ggT/ggC,LOW,,0.56889,0.6647,rs738643,,,,,,chr22,26194045,26194045,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly834Gly/c.2502T>C|2567|MYO18B|protein_coding|CODING|NM_032608.5|12|1),"HSMM:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.7055,0.6282,0.6978,0.59,0.35,0.71,,,,,,,,,,,,,,,,
missense_variant,MYO18B,MISSENSE,NM_032608.5:p.His1119Gln/c.3357C>A,caC/caA,MODERATE,COSM4156086(1),0.723442,0.998,rs5761268,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.695(N),-0.9316(T),,chr22,26239850,26239850,C,A,het,missense_variant(MODERATE|MISSENSE|caC/caA|p.His1119Gln/c.3357C>A|2567|MYO18B|protein_coding|CODING|NM_032608.5|18|1),"K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K27me3",,,,0.816,0.7622,0.6988,0.64,0.49,0.71,,0.000000(N),1.000(P),"-2.06,-2.06,-2.06(D,D,D)",0.0000(T),0.127,-1.201868,4.55,-3.23,-1.838000,-1.034000,0.891000,0.481000,0.884000,1.000000,0.7912
synonymous_variant,MYO18B,SILENT,NM_032608.5:p.Gly1265Gly/c.3795G>A,ggG/ggA,LOW,COSM444799(2),0.242013,0.0833,rs5996988,,,,,,chr22,26247456,26247456,G,A,het,synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly1265Gly/c.3795G>A|2567|MYO18B|protein_coding|CODING|NM_032608.5|21|1),"HSMM:H3K36me3,HepG2:H3K27me3",,,,0.2638,0.3559,0.3946,0.32,0.20,0.38,,,,,,,,,,,,,,,,
missense_variant,MYO18B,MISSENSE,NM_032608.5:p.Gln2347Arg/c.7040A>G,cAa/cGa,MODERATE,COSM4156088(1),0.426318,0.244,rs2236005,,,-1.935(N),-0.9436(T),,chr22,26422980,26422980,A,G,het,missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln2347Arg/c.7040A>G|2567|MYO18B|protein_coding|CODING|NM_032608.5|43|1),"HSMM:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.3425,0.2522,0.174,0.35,0.77,0.15,,,1.000(P),,0.0000(T),.,-2.419485,4.89,3.78,-0.355000,1.056000,2.406000,0.094000,0.005000,0.121000,4.7014
missense_variant,MYO18B,MISSENSE,NM_032608.5:p.Gly2395Ala/c.7184G>C,gGc/gCc,MODERATE,COSM4156089(1),0.0974441,0.004,rs6004901,,,1.43(L),-1.1099(T),,chr22,26423124,26423124,G,C,het,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly2395Ala/c.7184G>C|2567|MYO18B|protein_coding|CODING|NM_032608.5|43|1),"HSMM:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0654,0.0476,0.0348,0.09,0.22,0.03,,,1.000(P),,0.0002(T),.,-1.985354,5.12,-1.6,-0.264000,0.154000,0.135000,0.130000,0.011000,0.003000,1.509
missense_variant,MYO18B,MISSENSE,NM_032608.5:p.Gly2513Ser/c.7537G>A,Ggc/Agc,MODERATE,,0.0702875,0.004,rs7284177,1(T),"0.002,0.001,0.001,0.002,0.002(B,B,B,B,B)",-1.24(N),-1.0548(T),,chr22,26423477,26423477,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly2513Ser/c.7537G>A|2567|MYO18B|protein_coding|CODING|NM_032608.5|43|1),"HSMM:H3K36me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0481,0.0259,0.0179,0.07,0.17,0.02,,0.002083(N),1.000(P),"-1.92,-1.92,-1.94(D,D,D)",0.0003(T),0.325,0.121893,5.17,1.8,-0.361000,-0.007000,0.694000,0.893000,0.958000,0.459000,4.0444
synonymous_variant,SEZ6L,SILENT,NM_021115.4:p.Asp187Asp/c.561C>T,gaC/gaT,LOW,COSM3766700(2),0.0533147,0,rs17304075,,,,,,chr22,26688838,26688838,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|1023|SEZ6L|protein_coding|CODING|NM_001184773.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|1013|SEZ6L|protein_coding|CODING|NM_001184774.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|1011|SEZ6L|protein_coding|CODING|NM_001184775.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|949|SEZ6L|protein_coding|CODING|NM_001184776.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|948|SEZ6L|protein_coding|CODING|NM_001184777.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp187Asp/c.561C>T|1024|SEZ6L|protein_coding|CODING|NM_021115.4|2|1)",HepG2:H3K27me3,,,,0.0808,0.0576,0.1362,0.09,0.02,0.12,,,,,,,,,,,,,,,,
synonymous_variant,SEZ6L,SILENT,NM_021115.4:p.Gln276Gln/c.828G>A,caG/caA,LOW,,0.0527157,0,rs17395296,,,,,,chr22,26689105,26689105,G,A,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln276Gln/c.828G>A|1023|SEZ6L|protein_coding|CODING|NM_001184773.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln276Gln/c.828G>A|1013|SEZ6L|protein_coding|CODING|NM_001184774.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln276Gln/c.828G>A|1011|SEZ6L|protein_coding|CODING|NM_001184775.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln276Gln/c.828G>A|949|SEZ6L|protein_coding|CODING|NM_001184776.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln276Gln/c.828G>A|948|SEZ6L|protein_coding|CODING|NM_001184777.1|2|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln276Gln/c.828G>A|1024|SEZ6L|protein_coding|CODING|NM_021115.4|2|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0798,0.0576,0.1352,0.08,0.02,0.12,,,,,,,,,,,,,,,,
missense_variant,SEZ6L,MISSENSE,NM_021115.4:p.Met430Ile/c.1290G>T,atG/atT,MODERATE,,0.187899,0.0704,rs663048,0.34(T),"0.006,0.013,0.03,0.002,0.05,0.05(B,B,B,B,B,B)",-1.24(N),-0.9715(T),,chr22,26695077,26695077,G,T,het,"missense_variant(MODERATE|MISSENSE|atG/atT|p.Met430Ile/c.1290G>T|1023|SEZ6L|protein_coding|CODING|NM_001184773.1|5|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met430Ile/c.1290G>T|1013|SEZ6L|protein_coding|CODING|NM_001184774.1|5|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met430Ile/c.1290G>T|1011|SEZ6L|protein_coding|CODING|NM_001184775.1|5|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met430Ile/c.1290G>T|949|SEZ6L|protein_coding|CODING|NM_001184776.1|5|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met430Ile/c.1290G>T|948|SEZ6L|protein_coding|CODING|NM_001184777.1|5|1),missense_variant(MODERATE|MISSENSE|atG/atT|p.Met430Ile/c.1290G>T|1024|SEZ6L|protein_coding|CODING|NM_021115.4|5|1)","NHEK:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.0706,0.1484,0.2376,0.26,0.31,0.23,,0.069001(N),0.000(P),"-0.02,-0.02,-0.02,-0.02,-0.02,-0.02,-0.02(T,T,T,T,T,T,T)",0.0000(T),0.085,0.394361,4.55,0.149,-0.291000,-0.041000,0.352000,0.737000,0.869000,0.079000,4.5191
synonymous_variant,SEZ6L,SILENT,NM_021115.4:p.Thr473Thr/c.1419A>C,acA/acC,LOW,COSM149272(1),0.362819,0.1042,rs1210894,,,,,,chr22,26702015,26702015,A,C,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr473Thr/c.1419A>C|1023|SEZ6L|protein_coding|CODING|NM_001184773.1|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr473Thr/c.1419A>C|1013|SEZ6L|protein_coding|CODING|NM_001184774.1|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr473Thr/c.1419A>C|1011|SEZ6L|protein_coding|CODING|NM_001184775.1|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr473Thr/c.1419A>C|949|SEZ6L|protein_coding|CODING|NM_001184776.1|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr473Thr/c.1419A>C|948|SEZ6L|protein_coding|CODING|NM_001184777.1|6|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr473Thr/c.1419A>C|1024|SEZ6L|protein_coding|CODING|NM_021115.4|6|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1605,0.3386,0.4433,0.50,0.62,0.43,,,,,,,,,,,,,,,,
missense_variant,HPS4,MISSENSE,NM_022081.5:p.Gln625His/c.1875G>T,caG/caT,MODERATE,,0.827276,0.8046,rs1894704,0.26(T),"0.504,0.589,0.504(P,P,P)",1.71(L),-1.0525(T),,chr22,26853905,26853905,C,A,hom,"missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln625His/c.1875G>T|708|HPS4|protein_coding|CODING|NM_022081.5|13|1),missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln620His/c.1860G>T|703|HPS4|protein_coding|CODING|NM_152841.2|11|1),non_coding_exon_variant(MODIFIER|||n.2561G>T||HPS4||CODING|NR_073135.1|13|1),non_coding_exon_variant(MODIFIER|||n.2323G>T||HPS4||CODING|NR_073136.1|12|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8967,0.7594,0.9384,0.87,0.75,0.93,,0.017359(N),0.853(P),"1.88,1.88,1.88,1.88(T,T,T,T)",0.0000(T),0.219,2.379386,5.13,5.13,0.655000,2.390000,2.017000,0.353000,0.904000,1.000000,11.226
missense_variant,HPS4,MISSENSE,NM_022081.5:p.His606Tyr/c.1816C>T,Cat/Tat,MODERATE,COSM4156096(1),0.827476,0.8046,rs1894706,0.08(T),"0.999,0.999,0.999(D,D,D)",2.36(M),-1.0993(T),,chr22,26854441,26854441,G,A,hom,"missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His606Tyr/c.1816C>T|708|HPS4|protein_coding|CODING|NM_022081.5|12|1),missense_variant(MODERATE|MISSENSE|Cat/Tat|p.His601Tyr/c.1801C>T|703|HPS4|protein_coding|CODING|NM_152841.2|10|1),non_coding_exon_variant(MODIFIER|||n.2502C>T||HPS4||CODING|NR_073135.1|12|1),non_coding_exon_variant(MODIFIER|||n.2264C>T||HPS4||CODING|NR_073136.1|11|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8967,0.7594,0.9384,0.87,0.75,0.93,,0.000013(D),0.012(P),"1.94,1.94,1.94,1.94(T,T,T,T)",0.0000(T),0.369,3.974871,4.7,4.7,0.655000,2.437000,8.282000,0.638000,0.024000,1.000000,16.8245
missense_variant,HPS4,MISSENSE,NM_022081.5:p.Val552Met/c.1654G>A,Gtg/Atg,MODERATE,COSM444809(1),0.793131,0.8026,rs5752330,0.08(T),"0.462,0.462,0.662,0.329(P,P,P,B)",2.33(M),-1.0647(T),,chr22,26859942,26859942,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val552Met/c.1654G>A|708|HPS4|protein_coding|CODING|NM_022081.5|11|1),missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val547Met/c.1639G>A|703|HPS4|protein_coding|CODING|NM_152841.2|9|1),non_coding_exon_variant(MODIFIER|||n.2340G>A||HPS4||CODING|NR_073135.1|11|1),non_coding_exon_variant(MODIFIER|||n.2102G>A||HPS4||CODING|NR_073136.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8783,0.7248,0.9105,0.82,0.69,0.89,,0.002676(N),0.978(P),"1.93,1.93,1.93,1.93(T,T,T,T)",0.0000(T),0.246,2.831078,5.27,1.94,0.655000,0.196000,0.717000,0.538000,0.182000,0.586000,8.7434
missense_variant,HPS4,MISSENSE,NM_022081.5:p.Leu443Val/c.1327C>G,Ctc/Gtc,MODERATE,COSM3759100(3),0.354233,0.3026,rs2014410,0.47(T),"0.037,0.037,0.037,0.083,0.037(B,B,B,B,B)",1.525(L),-1.0390(T),,chr22,26860269,26860269,G,C,het,"missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu443Val/c.1327C>G|708|HPS4|protein_coding|CODING|NM_022081.5|11|1),missense_variant(MODERATE|MISSENSE|Ctc/Gtc|p.Leu438Val/c.1312C>G|703|HPS4|protein_coding|CODING|NM_152841.2|9|1),non_coding_exon_variant(MODIFIER|||n.2013C>G||HPS4||CODING|NR_073135.1|11|1),non_coding_exon_variant(MODIFIER|||n.1775C>G||HPS4||CODING|NR_073136.1|10|1)","H1ESC:H3K36me3,NH-A:H3K36me3,NHEK:H3K4me1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.5337,0.2536,0.3817,0.38,0.31,0.41,,0.017037(N),1.000(P),"1.46,1.46,1.46,1.46,0.47(T,T,T,T,T)",0.0000(T),0.189,-0.069509,4.83,-3.76,-1.202000,-0.455000,-0.433000,0.000000,0.000000,0.000000,10.0843
missense_variant,HPS4,MISSENSE,NM_022081.5:p.Glu229Gly/c.686A>G,gAg/gGg,MODERATE,,0.793131,0.8026,rs713998,0.51(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.445(N),-0.9576(T),,chr22,26862212,26862212,T,C,hom,"missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu229Gly/c.686A>G|708|HPS4|protein_coding|CODING|NM_022081.5|9|1),missense_variant(MODERATE|MISSENSE|gAg/gGg|p.Glu224Gly/c.671A>G|703|HPS4|protein_coding|CODING|NM_152841.2|7|1),non_coding_exon_variant(MODIFIER|||n.1372A>G||HPS4||CODING|NR_073135.1|9|1),non_coding_exon_variant(MODIFIER|||n.1080A>G||HPS4||CODING|NR_073136.1|7|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8783,0.7248,0.9105,0.82,0.69,0.89,,0.486273(N),1.000(P),"-2.19,-2.19,-2.19,-2.19,-2.19(D,D,D,D,D)",0.0000(T),0.338,-0.985713,4.95,0.46,-0.748000,-0.212000,0.158000,0.046000,0.000000,0.001000,0.8005
missense_variant,SRRD,MISSENSE,NM_001013694.2:p.Ala99Thr/c.295G>A,Gcc/Acc,MODERATE,,0.808307,0.8085,rs4820682,0.59(T),0.002(B),1.67(L),-0.9582(T),,chr22,26884039,26884039,G,A,hom,missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala99Thr/c.295G>A|339|SRRD|protein_coding|CODING|NM_001013694.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8793,0.8372,0.9095,0.82,0.68,0.88,,0.423189(N),1.000(P),0.91(T),0.0000(T),0.01,2.220915,4.49,-2.14,-1.047000,-0.116000,-0.017000,0.098000,0.008000,0.000000,0.9945
synonymous_variant,TFIP11,SILENT,NM_001008697.1:p.His354His/c.1062C>T,caC/caT,LOW,COSM4156104(1),0.777556,0.8254,rs1008530,,,,,,chr22,26895337,26895337,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His354His/c.1062C>T|837|TFIP11|protein_coding|CODING|NM_001008697.1|10|1),synonymous_variant(LOW|SILENT|caC/caT|p.His354His/c.1062C>T|837|TFIP11|protein_coding|CODING|NM_012143.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.863,0.8098,0.8926,0.78,0.59,0.87,,,,,,,,,,,,,,,,
synonymous_variant,TPST2,SILENT,NM_001008566.1:p.Ala90Ala/c.270G>C,gcG/gcC,LOW,COSM3759103(2),0.914537,1,rs4822735,,,,,,chr22,26937327,26937327,C,G,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala90Ala/c.270G>C|377|TPST2|protein_coding|CODING|NM_001008566.1|3|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala90Ala/c.270G>C|377|TPST2|protein_coding|CODING|NM_003595.3|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9867,0.9337,0.9294,0.93,0.98,0.91,,,,,,,,,,,,,,,,
synonymous_variant,CRYBA4,SILENT,NM_001886.2:p.Phe57Phe/c.171T>C,ttT/ttC,LOW,,0.923722,0.994,rs5761637,,,,,,chr22,27021457,27021457,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe57Phe/c.171T>C|196|CRYBA4|protein_coding|CODING|NM_001886.2|4|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9305,0.889,0.8579,0.87,0.92,0.85,,,,,,,,,,,,,,,,
synonymous_variant,CRYBA4,SILENT,NM_001886.2:p.Gly72Gly/c.216C>T,ggC/ggT,LOW,COSM444821(1),0.000998403,0,rs148454808,,,,,,chr22,27021502,27021502,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly72Gly/c.216C>T|196|CRYBA4|protein_coding|CODING|NM_001886.2|4|1),"H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0,0.0029,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,TTC28,SILENT,NM_001145418.1:p.Ala1648Ala/c.4944C>T,gcC/gcT,LOW,,0.000798722,0,rs372164265,,,,,,chr22,28394703,28394703,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala1648Ala/c.4944C>T|2481|TTC28|protein_coding|CODING|NM_001145418.1|16|1),non_coding_exon_variant(MODIFIER|||n.1736G>A||TTC28-AS1||NON_CODING|NR_026963.1|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0,0.0029,0.002,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,ZNRF3,SILENT,NM_001206998.1:p.Pro814Pro/c.2442A>C,ccA/ccC,LOW,COSM3759104(2),0.516374,0.5198,rs5997435,,,,,,chr22,29446611,29446611,A,C,het,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro814Pro/c.2442A>C|936|ZNRF3|protein_coding|CODING|NM_001206998.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro714Pro/c.2142A>C|836|ZNRF3|protein_coding|CODING|NM_032173.3|8|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4785,0.5461,0.498,0.53,0.56,0.51,,,,,,,,,,,,,,,,
synonymous_variant,C22orf31,SILENT,NM_015370.1:p.Ser34Ser/c.102A>G,tcA/tcG,LOW,COSM1130467(2),0.483826,0.3125,rs386499173,,,,,,chr22,29456733,29456733,T,C,hom,synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser34Ser/c.102A>G|290|C22orf31|protein_coding|CODING|NM_015370.1|2|1),"GM12878:H3K27me3,IMR90:H3K27me3",,,,0.5307,0.4914,0.6431,0.60,0.49,0.66,,,,,,,,,,,,,,,,
synonymous_variant,KREMEN1,SILENT,NM_032045.4:p.Pro4Pro/c.12A>C,ccA/ccC,LOW,COSM4156116(5),0.721845,0.6994,rs7292708,,,,,,chr22,29469130,29469130,A,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro4Pro/c.12A>C|458|KREMEN1|protein_coding|CODING|NM_001039570.2|1|1),synonymous_variant(LOW|SILENT|ccA/ccC|p.Pro4Pro/c.12A>C|492|KREMEN1|protein_coding|CODING|NM_032045.4|1|1)","K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,HUVEC:H3K27me3,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HepG2:H3K4me3,IMR90:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.6851,0.5634,0.7217,,,,,,,,,,,,,,,,,,,
synonymous_variant,KREMEN1,SILENT,NM_032045.4:p.Ala267Ala/c.801G>A,gcG/gcA,LOW,,0.108427,0.0427,rs35612970,,,,,,chr22,29533499,29533499,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala267Ala/c.801G>A|458|KREMEN1|protein_coding|CODING|NM_001039570.2|6|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala267Ala/c.801G>A|492|KREMEN1|protein_coding|CODING|NM_032045.4|6|1)","HUVEC:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1329,0.111,0.1958,0.14,0.08,0.17,,,,,,,,,,,,,,,,
missense_variant,KREMEN1,MISSENSE,NM_032045.4:p.Leu292Val/c.874C>G,Ctg/Gtg,MODERATE,COSM3736290(2),0.108427,0.0427,rs34920087,0.35(T),"0.122,0.08,0.035(B,B,B)",1.4(L),-1.1339(T),,chr22,29533572,29533572,C,G,het,"missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu292Val/c.874C>G|458|KREMEN1|protein_coding|CODING|NM_001039570.2|6|1),missense_variant(MODERATE|MISSENSE|Ctg/Gtg|p.Leu292Val/c.874C>G|492|KREMEN1|protein_coding|CODING|NM_032045.4|6|1)","HUVEC:H3K27me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1329,0.111,0.1958,0.14,0.08,0.17,,0.280963(N),1.000(P),"2.24,2.24,2.24,2.24(T,T,T,T)",0.0000(T),0.031,1.946617,4.99,-8.68,0.467000,-1.629000,-0.438000,0.982000,0.010000,0.000000,20.4747
missense_variant,EMID1,MISSENSE,NM_133455.3:p.Ala109Gly/c.326C>G,gCt/gGt,MODERATE,COSM3759106(1),0.467851,0.6081,rs743920,0.88(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-2.125(N),-0.9461(T),,chr22,29621128,29621128,C,G,het,"missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala109Gly/c.326C>G|443|EMID1|protein_coding|CODING|NM_133455.3|4|1),missense_variant(MODERATE|MISSENSE|gCt/gGt|p.Ala107Gly/c.320C>G|441|EMID1|protein_coding|CODING|NM_001267895.1|4|1),splice_region_variant(LOW|||c.320C>G|441|EMID1|protein_coding|CODING|NM_001267895.1|4|1)","HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3436,0.3646,0.1143,0.32,0.68,0.13,,0.034589(N),1.000(P),"-2.58,0.93,-2.41,-2.56(D,T,D,D)",0.0000(T),0.043,-0.983016,4.62,1.28,-0.815000,0.250000,0.813000,0.003000,0.352000,0.754000,7.6922
synonymous_variant,RHBDD3,SILENT,NM_012265.1:p.Ala303Ala/c.909C>A,gcC/gcA,LOW,COSM3766703(3),0.171326,0.0397,rs2231398,,,,,,chr22,29656389,29656389,G,T,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala303Ala/c.909C>A|386|RHBDD3|protein_coding|CODING|NM_012265.1|6|1),downstream_gene_variant(MODIFIER||803||441|EMID1|protein_coding|CODING|NM_001267895.1||1),downstream_gene_variant(MODIFIER||803||443|EMID1|protein_coding|CODING|NM_133455.3||1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1554,0.245,0.3608,0.30,0.14,0.38,,,,,,,,,,,,,,,,
synonymous_variant,GAS2L1,SILENT,NM_006478.4:p.Gly10Gly/c.30C>T,ggC/ggT,LOW,COSM1162503(5),0.327276,0.2847,rs11090564,,,,,,chr22,29704125,29704125,C,T,het,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly10Gly/c.30C>T|680|GAS2L1|protein_coding|CODING|NM_006478.4|2|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly10Gly/c.30C>T|454|GAS2L1|protein_coding|CODING|NM_001278730.1|2|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly10Gly/c.30C>T|680|GAS2L1|protein_coding|CODING|NM_152236.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","NHEK:H3K9ac,H1ESC:H3K36me3,NHEK:H3K4me3,K562:H3K36me3,H1ESC:H3K27me3,HMEC:H3K4me2,HUVEC:DNase1,HSMM:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,NHEK:H3K4me2,HSMM:H3K4me3",,,,0.4029,0.5159,0.3588,0.32,0.20,0.38,,,,,,,,,,,,,,,,
missense_variant,GAS2L1,MISSENSE,NM_006478.4:p.His505Leu/c.1514A>T,cAc/cTc,MODERATE,,0.167732,0.2044,rs9613860,0.36(T),0.0(B),0(N),-1.0239(T),,chr22,29707955,29707955,A,T,het,"missense_variant(MODERATE|MISSENSE|cAc/cTc|p.His505Leu/c.1514A>T|680|GAS2L1|protein_coding|CODING|NM_006478.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|cAc/cTc|p.His505Leu/c.1514A>T|680|GAS2L1|protein_coding|CODING|NM_152236.2|6|1|WARNING_TRANSCRIPT_INCOMPLETE),downstream_gene_variant(MODIFIER||967||203|RASL10A|protein_coding|CODING|NM_006477.4||1),intron_variant(MODIFIER|||c.1011-177A>T|454|GAS2L1|protein_coding|CODING|NM_001278730.1|5|1)","GM06990:H3K27me3,HUVEC:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3323,0.1628,0.1839,0.11,0.03,0.15,,,0.000(P),"0.9,0.9,0.9,0.9(T,T,T,T)",0.0000(T),0.258,2.726994,3.6,-7.19,0.402000,-1.930000,-4.240000,0.986000,0.889000,0.000000,1.6254
synonymous_variant,AP1B1,SILENT,NM_001127.3:p.Ala783Ala/c.2349G>A,gcG/gcA,LOW,COSM3759109(4),0.531949,0.6984,rs174765,,,,,,chr22,29727866,29727866,C,T,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala783Ala/c.2349G>A|949|AP1B1|protein_coding|CODING|NM_001127.3|18|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala756Ala/c.2268G>A|919|AP1B1|protein_coding|CODING|NM_001166019.1|17|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala776Ala/c.2328G>A|939|AP1B1|protein_coding|CODING|NM_145730.2|17|1),downstream_gene_variant(MODIFIER||1281|||MIR3653||NON_CODING|NR_037426.1||1),downstream_gene_variant(MODIFIER||1286|||SNORD125||NON_CODING|NR_003686.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5562,0.3977,0.5954,0.52,0.44,0.55,,,,,,,,,,,,,,,,
missense_variant,AP1B1,MISSENSE,NM_001127.3:p.Thr777Ala/c.2329A>G,Acc/Gcc,MODERATE,COSM4156120(1),0.9998,1,rs2857465,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.82(N),-0.9375(T),,chr22,29727886,29727886,T,C,hom,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr777Ala/c.2329A>G|949|AP1B1|protein_coding|CODING|NM_001127.3|18|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr750Ala/c.2248A>G|919|AP1B1|protein_coding|CODING|NM_001166019.1|17|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr770Ala/c.2308A>G|939|AP1B1|protein_coding|CODING|NM_145730.2|17|1),downstream_gene_variant(MODIFIER||1261|||MIR3653||NON_CODING|NR_037426.1||1),downstream_gene_variant(MODIFIER||1266|||SNORD125||NON_CODING|NR_003686.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.999,1,1,1.00,1.00,1.00,,0.000027(N),1.000(P),"0.96,0.96,0.96,0.96,0.96,0.96,0.96(T,T,T,T,T,T,T)",0.0000(T),0.074,-1.477918,4.58,3.57,-0.989000,0.581000,2.481000,0.003000,0.996000,0.977000,10.5485
missense_variant,RFPL1,MISSENSE,NM_021026.2:p.Trp94Arg/c.280T>C,Tgg/Cgg,MODERATE,,0.146166,0.0298,rs16987627,0.35(T),0.0(B),-0.895(N),-0.9408(T),,chr22,29835060,29835060,T,C,het,"missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp94Arg/c.280T>C|317|RFPL1|protein_coding|CODING|NM_021026.2|1|1),non_coding_exon_variant(MODIFIER|||n.3059A>G||RFPL1S||NON_CODING|NR_002727.2|1|1)","HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0941,0.0893,0.172,0.19,0.22,0.18,,,1.000(P),2.12(T),0.0000(T),0.009,-0.788099,1.23,-2.47,-1.637000,-1.479000,-2.452000,0.000000,0.000000,0.139000,2.4401
missense_variant,RFPL1,MISSENSE,NM_021026.2:p.Met127Thr/c.380T>C,aTg/aCg,MODERATE,COSM1415507(2),0.23103,0.1091,rs3804076,0.04(D),0.998(D),2.965(M),-0.9587(T),,chr22,29837537,29837537,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met127Thr/c.380T>C|317|RFPL1|protein_coding|CODING|NM_021026.2|2|1),non_coding_exon_variant(MODIFIER|||n.582A>G||RFPL1S||NON_CODING|NR_002727.2|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2873,0.4006,0.4384,0.32,0.09,0.43,,,0.990(P),2.87(T),0.0000(T),0.123,2.676780,1.1,1.1,0.348000,0.744000,3.478000,0.354000,0.345000,0.939000,6.3123
stop_gained,RFPL1,NONSENSE,NM_021026.2:p.Gln243*/c.727C>T,Cag/Tag,HIGH,,0.125,0.0298,rs12484086,0.28(T),,,,,chr22,29837884,29837884,C,T,het,"stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln243*/c.727C>T|317|RFPL1|protein_coding|CODING|NM_021026.2|2|1),non_coding_exon_variant(MODIFIER|||n.235G>A||RFPL1S||NON_CODING|NR_002727.2|1|1)","HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0951,0.0821,0.168,0.18,0.19,0.17,,,0.000(P),,,.,3.568256,1.42,-7.77E-4,0.195000,-0.217000,-0.878000,0.148000,0.001000,0.000000,6.2097
missense_variant,NEFH,MISSENSE,NM_021076.3:p.Pro615Leu/c.1844C>T,cCg/cTg,MODERATE,COSM3759114(1),0.150559,0.0744,rs5763269,0(D),0.085(B),2.215(M),-1.2872(T),,chr22,29885473,29885473,C,T,hom,missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro615Leu/c.1844C>T|1020|NEFH|protein_coding|CODING|NM_021076.3|4|1),"H1ESC:H3K36me3,K562:H3K36me3,GM12878:EBF,NHEK:H3K27me3,HepG2:H3K27me3",,RCV000057185.1,,0.1104,0.232,0.2306,0.20,0.17,0.22,,0.000133(D),1.000(P),-6.23(D),0.0078(T),0.097,0.846715,4.6,4.6,0.650000,2.568000,2.462000,0.005000,0.055000,0.853000,17.564
missense_variant,THOC5,MISSENSE,NM_001002877.1:p.Val579Ile/c.1735G>A,Gtt/Att,MODERATE,COSM3759115(2),0.222045,0.4167,rs1049534,0.47(T),0.0(B),-0.97(N),-0.9072(T),,chr22,29908072,29908072,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val579Ile/c.1735G>A|683|THOC5|protein_coding|CODING|NM_001002877.1|19|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val579Ile/c.1735G>A|683|THOC5|protein_coding|CODING|NM_001002878.1|19|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val579Ile/c.1735G>A|683|THOC5|protein_coding|CODING|NM_001002879.1|18|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val579Ile/c.1735G>A|683|THOC5|protein_coding|CODING|NM_003678.4|18|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.184,0.1988,0.2425,0.19,0.13,0.23,,0.004059(N),1.000(P),"2.06,2.06,2.06,2.06(T,T,T,T)",0.0000(T),0.096,-1.780653,6.06,1.09,-2.276000,-0.692000,-0.307000,0.186000,0.139000,0.001000,13.851
missense_variant,THOC5,MISSENSE,NM_001002877.1:p.Val525Ile/c.1573G>A,Gtt/Att,MODERATE,,0.445687,0.7242,rs737976,1(T),0.0(B),-0.55(N),-1.0077(T),,chr22,29913272,29913272,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val525Ile/c.1573G>A|683|THOC5|protein_coding|CODING|NM_001002877.1|17|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val525Ile/c.1573G>A|683|THOC5|protein_coding|CODING|NM_001002878.1|17|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val525Ile/c.1573G>A|683|THOC5|protein_coding|CODING|NM_001002879.1|16|1),missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val525Ile/c.1573G>A|683|THOC5|protein_coding|CODING|NM_003678.4|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.2935,0.379,0.5129,0.45,0.35,0.50,,0.024946(N),1.000(P),"1.9,1.9,1.9,1.9(T,T,T,T)",0.0000(T),0.045,-1.518513,5.35,-2.49,-2.134000,-1.032000,0.249000,0.283000,0.005000,0.040000,7.0418
missense_variant,UQCR10,MISSENSE,NM_013387.3:p.Ile47Val/c.139A>G,Atc/Gtc,MODERATE,COSM4002131(1),0.147564,0.0853,rs76013375,0.52(T),"0.006,0.107(B,B)",,-0.9655(T),,chr22,30163526,30163526,A,G,het,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile47Val/c.139A>G|63|UQCR10|protein_coding|CODING|NM_013387.3|1|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile47Val/c.139A>G|62|UQCR10|protein_coding|CODING|NM_001003684.1|1|1),upstream_gene_variant(MODIFIER||557||170|ZMAT5|protein_coding|CODING|NM_001003692.1||1),upstream_gene_variant(MODIFIER||557||170|ZMAT5|protein_coding|CODING|NM_019103.2||1)","H1ESC:PolII,NHEK:H3K9ac,CD4:H2AZ,NHEK:H3K27ac,K562:H3K4me3,HSMM:H2AZ,CD4:H3K18ac,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,IMR90:H3K14ac,IMR90:H3K56ac,H1ESC:H3K4me2,K562:H3K36me3,IMR90:H4K5ac,HUVEC:H3K9ac,IMR90:H3K4me2,CD4:H4K8ac,H1ESC:H3K27ac,GM12878:SIX5,HepG2:H3K27ac,GM12878:H3K79me2,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,IMR90:H3K23ac,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,H1ESC:H4K5ac,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,IMR90:H2AK5ac,IMR90:H3K4ac,NH-A:H3K27ac,HSMM:H3K9ac,HUVEC:H3K4me2,H1ESC:Yy1,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,GM12878:TAF1,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,IMR90:H4K91ac,K562:Yy1,CD4:H3K4ac,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,IMR90:H3K18ac,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,CD4:H2BK120ac,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,CD4:H3K9ac,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,K562:H2AZ,IMR90:H3K79me2,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,IMR90:H4K8ac",,,,0.0941,0.0951,0.0467,0.12,0.26,0.05,,,0.911(P),"0.96,0.96(T,T)",0.0000(T),0.117,2.341566,5.73,4.63,0.456000,2.196000,0.609000,0.960000,1.000000,0.876000,9.2483
missense_variant,ASCC2,MISSENSE,NM_032204.4:p.Arg571Gln/c.1712G>A,cGg/cAg,MODERATE,,0.0311502,0.0675,rs61736786,0.55(T),"0.04,0.018(B,B)",1.405(L),-1.1033(T),,chr22,30189642,30189642,C,T,het,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg495Gln/c.1484G>A|681|ASCC2|protein_coding|CODING|NM_001242906.1|15|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg571Gln/c.1712G>A|757|ASCC2|protein_coding|CODING|NM_032204.4|16|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.062,0.0249,0.02,0.00,0.03,,0.000071(D),0.999(D),"3.05,3.05,3.05,1.44(T,T,T,T)",0.0036(T),0.203,2.034215,5.26,5.26,0.561000,2.735000,1.492000,0.148000,0.995000,0.011000,11.4524
missense_variant,TBC1D10A,MISSENSE,NM_001204240.1:p.Arg418His/c.1253G>A,cGc/cAc,MODERATE,COSM4156133(2),0.0453275,0.001,rs4823086,0.05(D),"0.469,0.469,0.469(P,P,P)",1.61(L),-1.0194(T),,chr22,30688659,30688659,C,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg418His/c.1253G>A|515|TBC1D10A|protein_coding|CODING|NM_001204240.1|9|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg411His/c.1232G>A|508|TBC1D10A|protein_coding|CODING|NM_031937.2|9|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0256,0.0692,0.1461,0.10,0.03,0.14,,0.003430(N),0.000(P),"3.49,3.49,3.51(T,T,T)",0.0002(T),0.2,2.524925,5.51,5.51,0.561000,2.768000,1.726000,0.189000,1.000000,0.999000,12.1901
synonymous_variant,TBC1D10A,SILENT,NM_001204240.1:p.Val81Val/c.243A>C,gtA/gtC,LOW,,0.158147,0.1448,rs4823089,,,,,,chr22,30700607,30700607,T,G,het,"synonymous_variant(LOW|SILENT|gtA/gtC|p.Val74Val/c.222A>C|508|TBC1D10A|protein_coding|CODING|NM_031937.2|2|1),synonymous_variant(LOW|SILENT|gtA/gtC|p.Val81Val/c.243A>C|515|TBC1D10A|protein_coding|CODING|NM_001204240.1|2|1)","CD4:H2BK5ac,NH-A:H3K36me3,NHEK:H3K4me1,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H3K27ac,IMR90:H3K36me3,CD4:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.1012,0.1571,0.2535,0.22,0.15,0.26,,,,,,,,,,,,,,,,
synonymous_variant,SF3A1,SILENT,NM_005877.4:p.Val670Val/c.2010G>T,gtG/gtT,LOW,,0.153554,0.1448,rs2229807,,,,,,chr22,30733111,30733111,C,A,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val605Val/c.1815G>T|728|SF3A1|protein_coding|CODING|NM_001005409.1|13|1),synonymous_variant(LOW|SILENT|gtG/gtT|p.Val670Val/c.2010G>T|793|SF3A1|protein_coding|CODING|NM_005877.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0859,0.1556,0.2535,0.22,0.15,0.26,,,,,,,,,,,,,,,,
missense_variant,CCDC157,MISSENSE,NM_001017437.2:p.Asp51Asn/c.151G>A,Gac/Aac,MODERATE,COSM3759120(3),0.159145,0.1468,rs386609822,0.15(T),1.0(D),1.905(M),-1.2119(T),,chr22,30762140,30762140,G,A,het,missense_variant(MODERATE|MISSENSE|Gac/Aac|p.Asp51Asn/c.151G>A|752|CCDC157|protein_coding|CODING|NM_001017437.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0838,0.1571,0.2694,0.22,0.15,0.26,,,0.000(P),"0.57,1.46,1.46,1.09,1.09(T,T,T,T,T)",0.0001(T),0.301,5.588928,5.25,5.25,0.455000,2.613000,9.060000,0.968000,1.000000,1.000000,17.3819
synonymous_variant,CCDC157,SILENT,NM_001017437.2:p.Ala110Ala/c.330G>A,gcG/gcA,LOW,,0.153355,0.1458,rs5749080,,,,,,chr22,30765502,30765502,G,A,het,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala110Ala/c.330G>A|752|CCDC157|protein_coding|CODING|NM_001017437.2|4|1),non_coding_exon_variant(MODIFIER|||n.6903C>T||KIAA1656||NON_CODING|NR_046312.1|2|1)",IMR90:H3K36me3,,,,0.0828,0.1571,0.2545,0.22,0.15,0.26,,,,,,,,,,,,,,,,
missense_variant,CCDC157,MISSENSE,NM_001017437.2:p.Ser587Ala/c.1759T>G,Tcc/Gcc,MODERATE,,0.986422,1,rs2015035,1(T),0.0(B),-1.955(N),-0.9355(T),,chr22,30771554,30771554,T,G,hom,"missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser587Ala/c.1759T>G|752|CCDC157|protein_coding|CODING|NM_001017437.2|10|1),non_coding_exon_variant(MODIFIER|||n.851A>C||KIAA1656||NON_CODING|NR_046312.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9928,0.9712,0.9612,0.96,0.99,0.95,,0.000000(N),0.000(P),"-1.06,-1.06(T,T)",0.0000(T),0.233,3.152334,5.24,5.24,-0.121000,1.223000,4.139000,0.976000,1.000000,1.000000,13.4183
missense_variant,RNF215,MISSENSE,NM_001017981.1:p.Ala322Thr/c.964G>A,Gct/Act,MODERATE,COSM4002139(2),0.131589,0.1438,rs5749088,0.5(T),0.0(B),0(N),-0.9577(T),,chr22,30776095,30776095,C,T,het,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala322Thr/c.964G>A|377|RNF215|protein_coding|CODING|NM_001017981.1|7|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.0828,0.1556,0.2545,0.20,0.08,0.26,,0.443090(N),1.000(P),2.13(T),0.0000(T),0.167,0.026624,3.71,-6.25,-0.258000,-1.111000,0.008000,0.002000,0.006000,0.000000,2.1934
synonymous_variant,RNF215,SILENT,NM_001017981.1:p.Leu157Leu/c.471T>C,ctT/ctC,LOW,COSM3740395(1),0.352037,0.3929,rs5997629,,,,-0.9264(T),,chr22,30782089,30782089,A,G,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu157Leu/c.471T>C|377|RNF215|protein_coding|CODING|NM_001017981.1|3|1),"IMR90:H3K36me3,NHEK:H3K36me3",,,,0.3916,0.353,0.3111,0.31,0.33,0.30,,,0.000(P),,0.0000(T),.,1.473926,4.61,-0.0468,-0.124000,-0.472000,0.733000,0.996000,0.956000,1.000000,5.1726
missense_variant,SEC14L2,MISSENSE,NM_012429.4:p.Arg11Lys/c.32G>A,aGg/aAg,MODERATE,COSM3764924(2),0.370807,0.3849,rs757660,0.98(T),"0.0,0.0,0.0(B,B,B)",-1.4(N),-0.9236(T),,chr22,30793137,30793137,G,A,het,"missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg11Lys/c.32G>A|320|SEC14L2|protein_coding|CODING|NM_001204204.2|1|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg11Lys/c.32G>A|403|SEC14L2|protein_coding|CODING|NM_012429.4|1|1),missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg11Lys/c.32G>A|392|SEC14L2|protein_coding|CODING|NM_033382.2|1|1),5_prime_UTR_variant(MODIFIER||9226|c.-55G>A|349|SEC14L2|protein_coding|CODING|NM_001291932.1|1|1)","CD4:H3K9me1,HepG2:H3K4me2,HeLa-S3:DNase1,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:DNase1,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.3722,0.3617,0.3121,0.28,0.35,0.25,,0.000208(N),0.000(P),"1.61,1.61,1.61,1.61(T,T,T,T)",0.0000(T),0.02,0.460151,4.15,0.645,-0.361000,-0.099000,0.584000,0.881000,0.956000,0.197000,7.7743
missense_variant,SEC14L3,MISSENSE,NM_174975.4:p.Asp335Glu/c.1005T>G,gaT/gaG,MODERATE,COSM330401(1),0.776558,0.8601,rs2240345,1(T),"0.0,0.0(B,B)",-1.985(N),-0.9708(T),,chr22,30857373,30857373,A,C,het,"missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp258Glu/c.774T>G|323|SEC14L3|protein_coding|CODING|NM_001257378.1|13|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp276Glu/c.828T>G|341|SEC14L3|protein_coding|CODING|NM_001257379.1|12|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp276Glu/c.828T>G|341|SEC14L3|protein_coding|CODING|NM_001257382.1|12|1),missense_variant(MODERATE|MISSENSE|gaT/gaG|p.Asp335Glu/c.1005T>G|400|SEC14L3|protein_coding|CODING|NM_174975.4|11|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8354,0.5735,0.6123,0.69,0.85,0.61,,0.000000(N),0.000(P),"1.15,1.15,1.15,1.15,1.15,1.15,1.15(T,T,T,T,T,T,T)",0.0000(T),0.067,-0.414758,5.67,3.55,-0.701000,0.322000,0.355000,0.340000,0.952000,0.990000,7.9705
synonymous_variant,SEC14L3,SILENT,NM_174975.4:p.Asp310Asp/c.930T>C,gaT/gaC,LOW,COSM4156138(1),0.771965,0.8601,rs5749104,,,,,,chr22,30857448,30857448,A,G,het,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp233Asp/c.699T>C|323|SEC14L3|protein_coding|CODING|NM_001257378.1|13|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp251Asp/c.753T>C|341|SEC14L3|protein_coding|CODING|NM_001257379.1|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp251Asp/c.753T>C|341|SEC14L3|protein_coding|CODING|NM_001257382.1|12|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp310Asp/c.930T>C|400|SEC14L3|protein_coding|CODING|NM_174975.4|11|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8354,0.5648,0.5785,0.68,0.86,0.58,,,,,,,,,,,,,,,,
missense_variant,SEC14L6,MISSENSE,NM_001193336.2:p.Arg145Lys/c.434G>A,aGg/aAg,MODERATE,COSM4156140(1),0.880391,0.999,rs5749118,0.69(T),,-0.56(N),-0.9801(T),,chr22,30927975,30927975,C,T,hom,missense_variant(MODERATE|MISSENSE|aGg/aAg|p.Arg145Lys/c.434G>A|397|SEC14L6|protein_coding|CODING|NM_001193336.2|6|1),IMR90:H3K27me3,,,,0.9059,0.7911,0.8082,,,,,,0.000(P),-0.81(T),0.0000(T),0.012,-0.477785,3.21,2.16,-0.665000,0.019000,1.446000,0.172000,0.870000,0.954000,6.792
missense_variant,SEC14L6,MISSENSE,NM_001193336.2:p.Gln43Arg/c.128A>G,cAa/cGa,MODERATE,COSM4156143(1),0.721645,0.5437,rs5753190,1(T),,-3.005(N),-0.9338(T),,chr22,30934816,30934816,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln43Arg/c.128A>G|397|SEC14L6|protein_coding|CODING|NM_001193336.2|2|1),splice_region_variant(LOW|||c.128A>G|397|SEC14L6|protein_coding|CODING|NM_001193336.2|2|1)",IMR90:H3K27me3,,,,0.7188,0.7061,0.7565,,,,,,0.000(P),-0.94(T),0.0000(T),0.122,-1.551938,4.33,-0.512,-1.072000,-0.691000,0.391000,0.200000,0.001000,0.984000,1.5553
missense_variant,GAL3ST1,MISSENSE,NM_004861.1:p.Val29Met/c.85G>A,Gtg/Atg,MODERATE,,0.309904,0.3502,rs2267161,0.24(T),0.106(B),0.345(N),-0.8934(T),,chr22,30953295,30953295,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val29Met/c.85G>A|423|GAL3ST1|protein_coding|CODING|NM_004861.1|3|1),"H1ESC:DNase1,IMR90:H3K27me3,H1ESC:CTCF",,,,0.2178,0.2536,0.326,0.34,0.37,0.32,,0.002686(N),0.000(P),"2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18,2.18(T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.371,2.327313,5.58,1.09,-0.147000,0.316000,1.007000,0.726000,0.931000,1.000000,7.6791
missense_variant,TCN2,MISSENSE,NM_000355.3:p.Ile23Val/c.67A>G,Ata/Gta,MODERATE,,0.113019,0.0129,rs9606756,0.19(T),"0.04,0.026,0.026(B,B,B)",1.485(L),-1.0668(T),,chr22,31006860,31006860,A,G,het,"missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile23Val/c.67A>G|427|TCN2|protein_coding|CODING|NM_000355.3|2|1),missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile23Val/c.67A>G|400|TCN2|protein_coding|CODING|NM_001184726.1|2|1),splice_region_variant(LOW|||c.67A>G|427|TCN2|protein_coding|CODING|NM_000355.3|2|1),splice_region_variant(LOW|||c.67A>G|400|TCN2|protein_coding|CODING|NM_001184726.1|2|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.0961,0.196,0.1133,0.13,0.15,0.12,,0.000409(N),0.144(P),"1.54,1.54,1.54,1.21(T,T,T,T)",0.0004(T),0.089,2.382508,5.94,1.27,0.528000,-0.109000,0.182000,0.378000,0.003000,0.122000,2.0113
missense_variant,TCN2,MISSENSE,NM_000355.3:p.Arg259Pro/c.776G>C,cGt/cCt,MODERATE,COSM4002151(1),0.579673,0.4444,rs1801198,0.65(T),"0.0,0.0,0.0(B,B,B)",-1.155(N),-0.9530(T),,chr22,31011610,31011610,G,C,het,"missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg259Pro/c.776G>C|427|TCN2|protein_coding|CODING|NM_000355.3|6|1),missense_variant(MODERATE|MISSENSE|cGt/cCt|p.Arg232Pro/c.695G>C|400|TCN2|protein_coding|CODING|NM_001184726.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3",,RCV000000117.1,,0.409,0.6441,0.5716,0.63,0.77,0.57,,0.612573(N),1.000(P),"1.41,1.41,1.41(T,T,T)",0.0000(T),0.132,-0.931342,5.15,4.13,-0.216000,0.766000,0.146000,0.000000,0.001000,0.000000,13.2458
synonymous_variant,SLC35E4,SILENT,NM_001001479.2:p.Pro161Pro/c.483A>G,ccA/ccG,LOW,COSM1415741(4),0.6252,0.4534,rs5997714,,,,,,chr22,31032920,31032920,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro161Pro/c.483A>G|350|SLC35E4|protein_coding|CODING|NM_001001479.2|1|1),"NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,IMR90:H3K4me2,H1ESC:H3K27me3,HMEC:H3K4me2,GM12878:CTCF,HMEC:CTCF,NHEK:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3",,,,0.4192,0.6801,0.6004,0.68,0.84,0.60,,,,,,,,,,,,,,,,
synonymous_variant,OSBP2,SILENT,NM_030758.3:p.Glu81Glu/c.243A>G,gaA/gaG,LOW,COSM3759124(3),0.251797,0.004,rs13053290,,,,,,chr22,31091139,31091139,A,G,het,"synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu81Glu/c.243A>G|915|OSBP2|protein_coding|CODING|NM_001282739.1|1|1),synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu81Glu/c.243A>G|916|OSBP2|protein_coding|CODING|NM_030758.3|1|1),intron_variant(MODIFIER|||c.149+808A>G|750|OSBP2|protein_coding|CODING|NM_001282738.1|2|1)","K562:H3K4me3,GM06990:H3K27me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K4me2,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NHEK:H3K27me3,HepG2:H3K4me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM12878:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1207,0.2104,0.2972,0.35,0.46,0.29,,,,,,,,,,,,,,,,
synonymous_variant,OSBP2,SILENT,NM_030758.3:p.Ala328Ala/c.984T>C,gcT/gcC,LOW,,0.706669,0.8234,rs2301816,,,,,,chr22,31266546,31266546,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala163Ala/c.489T>C|750|OSBP2|protein_coding|CODING|NM_001282738.1|4|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala328Ala/c.984T>C|915|OSBP2|protein_coding|CODING|NM_001282739.1|3|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala70Ala/c.210T>C|659|OSBP2|protein_coding|CODING|NM_001282741.1|2|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala328Ala/c.984T>C|916|OSBP2|protein_coding|CODING|NM_030758.3|3|1),5_prime_UTR_variant(MODIFIER||115|c.-115T>C|549|OSBP2|protein_coding|CODING|NM_001282740.1|2|1)","HUVEC:H3K36me3,HSMM:H3K36me3,K562:Cjun,NHEK:H3K36me3,HeLa-S3:H3K36me3,HepG2:H3K27me3",,,,0.6544,0.6686,0.6252,0.66,0.73,0.62,,,,,,,,,,,,,,,,
synonymous_variant,SMTN,SILENT,NM_001207017.1:p.Ser554Ser/c.1662C>T,agC/agT,LOW,,0.0181709,0,rs35541583,,,,,,chr22,31487701,31487701,C,T,het,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser554Ser/c.1662C>T|1002|SMTN|protein_coding|CODING|NM_001207017.1|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser556Ser/c.1668C>T|971|SMTN|protein_coding|CODING|NM_001207018.1|10|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser500Ser/c.1500C>T|917|SMTN|protein_coding|CODING|NM_006932.4|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser500Ser/c.1500C>T|915|SMTN|protein_coding|CODING|NM_134269.2|11|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser500Ser/c.1500C>T|940|SMTN|protein_coding|CODING|NM_134270.2|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0204,0.0245,0.0487,0.03,0.01,0.04,,,,,,,,,,,,,,,,
missense_variant,SMTN,MISSENSE,NM_001207017.1:p.Ala632Pro/c.1894G>C,Gca/Cca,MODERATE,,0.491613,0.123,rs3205187,1(T),"0.001,0.0,0.0,0.0,0.0,0.0,0.002(B,B,B,B,B,B,B)",-0.895(N),-0.9751(T),,chr22,31491295,31491295,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala632Pro/c.1894G>C|1002|SMTN|protein_coding|CODING|NM_001207017.1|13|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala603Pro/c.1807G>C|971|SMTN|protein_coding|CODING|NM_001207018.1|11|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala547Pro/c.1639G>C|917|SMTN|protein_coding|CODING|NM_006932.4|12|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala547Pro/c.1639G>C|915|SMTN|protein_coding|CODING|NM_134269.2|12|1),missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala547Pro/c.1639G>C|940|SMTN|protein_coding|CODING|NM_134270.2|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.636,0.5159,0.672,0.61,0.50,0.66,,0.002053(N),0.000(P),"0.2,-0.26,-0.26,1.94,-3.07(T,T,T,T,D)",0.0000(T),0.1,-0.469884,4.98,3.9,-0.216000,1.495000,1.084000,0.495000,0.995000,0.161000,11.3436
missense_variant,SMTN,MISSENSE,NM_001207017.1:p.Ala644Val/c.1931C>T,gCg/gTg,MODERATE,,0.136182,0.0923,rs5997872,0.73(T),"0.003,0.001,0.001,0.0,0.001,0.003,0.001,0.006(B,B,B,B,B,B,B,B)",-0.145(N),-1.0389(T),,chr22,31491332,31491332,C,T,het,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala644Val/c.1931C>T|1002|SMTN|protein_coding|CODING|NM_001207017.1|13|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala615Val/c.1844C>T|971|SMTN|protein_coding|CODING|NM_001207018.1|11|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala559Val/c.1676C>T|917|SMTN|protein_coding|CODING|NM_006932.4|12|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala559Val/c.1676C>T|915|SMTN|protein_coding|CODING|NM_134269.2|12|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala559Val/c.1676C>T|940|SMTN|protein_coding|CODING|NM_134270.2|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.085,0.167,0.17,0.18,0.17,,0.199311(N),1.000(P),"0.09,-0.35,-0.35,1.89,-3.14(T,T,T,T,D)",0.0013(T),0.054,1.293795,4.98,0.294,0.561000,0.010000,-0.029000,0.066000,0.029000,0.019000,4.2355
synonymous_variant,INPP5J,SILENT,NM_001284285.1:p.Thr375Thr/c.1125A>C,acA/acC,LOW,COSM444884(2),0.752596,0.5992,rs2240431,,,,,,chr22,31521850,31521850,A,C,hom,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr375Thr/c.1125A>C|1006|INPP5J|protein_coding|CODING|NM_001284285.1|2|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr308Thr/c.924A>C|939|INPP5J|protein_coding|CODING|NM_001284286.1|3|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr8Thr/c.24A>C|639|INPP5J|protein_coding|CODING|NM_001284288.1|3|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr8Thr/c.24A>C|639|INPP5J|protein_coding|CODING|NM_001284289.1|4|1),intron_variant(MODIFIER|||c.-116-430A>C|571|INPP5J|protein_coding|CODING|NM_001284287.1|1|1),intron_variant(MODIFIER|||c.168-512A>C|638|INPP5J|protein_coding|CODING|NM_001002837.2|2|1)","GM06990:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9325,0.8631,0.828,0.76,0.67,0.80,,,,,,,,,,,,,,,,
synonymous_variant,INPP5J,SILENT,NM_001284285.1:p.Thr801Thr/c.2403C>A,acC/acA,LOW,COSM4156158(1),0.259784,0.0208,rs35342535,,,,,,chr22,31529463,31529463,C,A,het,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr433Thr/c.1299C>A|638|INPP5J|protein_coding|CODING|NM_001002837.2|11|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr801Thr/c.2403C>A|1006|INPP5J|protein_coding|CODING|NM_001284285.1|11|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr734Thr/c.2202C>A|939|INPP5J|protein_coding|CODING|NM_001284286.1|12|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr366Thr/c.1098C>A|571|INPP5J|protein_coding|CODING|NM_001284287.1|10|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr434Thr/c.1302C>A|639|INPP5J|protein_coding|CODING|NM_001284288.1|12|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr434Thr/c.1302C>A|639|INPP5J|protein_coding|CODING|NM_001284289.1|13|1),downstream_gene_variant(MODIFIER||1330||509|PLA2G3|protein_coding|CODING|NM_015715.4||1)",H1ESC:H3K36me3,,,,0.453,0.281,0.3877,0.33,0.21,0.39,,,,,,,,,,,,,,,,
missense_variant,PLA2G3,MISSENSE,NM_015715.4:p.Arg378Gln/c.1133G>A,cGg/cAg,MODERATE,COSM4156162(1),0.133786,0.0238,rs2232183,1(T),0.001(B),-1.6(N),-0.9449(T),,chr22,31532960,31532960,C,T,het,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg378Gln/c.1133G>A|509|PLA2G3|protein_coding|CODING|NM_015715.4|5|1),"H1ESC:H3K36me3,HMEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.181,0.1657,0.2505,0.20,0.10,0.26,,0.039117(N),1.000(P),1.62(T),0.0000(T),0.011,-0.391533,5.62,2.33,-1.062000,0.111000,0.110000,0.312000,0.993000,0.072000,8.7555
synonymous_variant,PLA2G3,SILENT,NM_015715.4:p.Tyr265Tyr/c.795C>T,taC/taT,LOW,COSM3759134(1),0.536342,0.3948,rs2074739,,,,,,chr22,31533967,31533967,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr265Tyr/c.795C>T|509|PLA2G3|protein_coding|CODING|NM_015715.4|4|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7996,0.4395,0.5736,0.54,0.47,0.58,,,,,,,,,,,,,,,,
missense_variant,PLA2G3,MISSENSE,NM_015715.4:p.Ser70Ala/c.208T>G,Tca/Gca,MODERATE,COSM1484160(4),0.832069,0.9325,rs2232176,0.88(T),0.0(B),-1.355(N),-1.0248(T),,chr22,31536133,31536133,A,C,hom,missense_variant(MODERATE|MISSENSE|Tca/Gca|p.Ser70Ala/c.208T>G|509|PLA2G3|protein_coding|CODING|NM_015715.4|1|1),"H1ESC:H3K9ac,HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K4me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.8988,0.8646,0.7873,0.75,0.70,0.78,,0.889048(N),1.000(P),2.75(T),0.0000(T),0.014,-0.605006,5.69,3.58,-0.121000,0.342000,0.989000,0.560000,0.103000,0.335000,7.1186
synonymous_variant,LIMK2,SILENT,NM_001031801.1:p.Leu382Leu/c.1146C>G,ctC/ctG,LOW,,0.845048,0.876,rs2228619,,,,,,chr22,31663842,31663842,C,G,hom,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu382Leu/c.1146C>G|686|LIMK2|protein_coding|CODING|NM_001031801.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu403Leu/c.1209C>G|638|LIMK2|protein_coding|CODING|NM_005569.3|10|1),synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu382Leu/c.1146C>G|617|LIMK2|protein_coding|CODING|NM_016733.2|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8139,0.7478,0.7266,0.80,0.95,0.72,,,,,,,,,,,,,,,,
missense_variant,PIK3IP1,MISSENSE,NM_052880.4:p.Thr251Ser/c.752C>G,aCc/aGc,MODERATE,,0.845048,0.876,rs2040533,1(T),"0.0,0.0(B,B)",-1.7(N),-0.9842(T),,chr22,31679110,31679110,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr251Ser/c.752C>G|263|PIK3IP1|protein_coding|CODING|NM_052880.4|6|1),3_prime_UTR_variant(MODIFIER||151|c.*151C>G|173|PIK3IP1|protein_coding|CODING|NM_001135911.1|5|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.8139,0.7478,0.7266,0.80,0.95,0.72,,0.060270(N),0.997(P),"0.98,0.98(T,T)",0.0000(T),0.018,-2.192325,5.67,1.32,-0.978000,0.357000,0.236000,0.033000,0.473000,0.006000,2.2271
synonymous_variant,EIF4ENIF1,SILENT,NM_001164501.1:p.Ser742Ser/c.2226C>T,agC/agT,LOW,COSM3759138(1),0.323682,0.0377,rs5997988,,,,,,chr22,31838085,31838085,G,A,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser742Ser/c.2226C>T|985|EIF4ENIF1|protein_coding|CODING|NM_001164501.1|17|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser568Ser/c.1704C>T|811|EIF4ENIF1|protein_coding|CODING|NM_001164502.1|15|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser742Ser/c.2226C>T|985|EIF4ENIF1|protein_coding|CODING|NM_019843.3|17|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3865,0.3026,0.4583,0.45,0.42,0.46,,,,,,,,,,,,,,,,
missense_variant,SFI1,MISSENSE,NM_001007467.2:p.Tyr322His/c.964T>C,Tac/Cac,MODERATE,,0.955671,0.9911,rs5753700,0.71(T),"0.0,0.0,0.0,0.0,0.0,0.001(B,B,B,B,B,B)",0(N),-1.0122(T),,chr22,31971258,31971258,T,C,hom,"missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr322His/c.964T>C|1242|SFI1|protein_coding|CODING|NM_001007467.2|10|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr298His/c.892T>C|1187|SFI1|protein_coding|CODING|NM_001258325.1|9|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr240His/c.718T>C|1160|SFI1|protein_coding|CODING|NM_001258326.1|8|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr240His/c.718T>C|1148|SFI1|protein_coding|CODING|NM_001258327.1|8|1),missense_variant(MODERATE|MISSENSE|Tac/Cac|p.Tyr322His/c.964T>C|1211|SFI1|protein_coding|CODING|NM_014775.3|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9816,0.9856,0.9642,0.94,0.91,0.95,,0.256696(N),1.000(P),"3.22,3.2,3.05,3.07,3.08,3.05,3.22(T,T,T,T,T,T,T)",0.0000(T),0.391,-1.151756,5.49,-1.01,-0.726000,0.056000,0.094000,0.004000,0.346000,0.001000,5.1134
missense_variant,SFI1,MISSENSE,NM_001007467.2:p.Arg549Gln/c.1646G>A,cGa/cAa,MODERATE,COSM3759139(2),0.351837,0.12,rs2006771,0.65(T),"0.011,0.031,0.053,0.011,0.047,0.117(B,B,B,B,B,B)",0(N),-0.9523(T),,chr22,31998612,31998612,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg549Gln/c.1646G>A|1242|SFI1|protein_coding|CODING|NM_001007467.2|17|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg494Gln/c.1481G>A|1187|SFI1|protein_coding|CODING|NM_001258325.1|15|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg467Gln/c.1400G>A|1160|SFI1|protein_coding|CODING|NM_001258326.1|15|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg467Gln/c.1400G>A|1148|SFI1|protein_coding|CODING|NM_001258327.1|15|1),missense_variant(MODERATE|MISSENSE|cGa/cAa|p.Arg518Gln/c.1553G>A|1211|SFI1|protein_coding|CODING|NM_014775.3|16|1)","H1ESC:H3K36me3,IMR90:H2BK120ac,GM12878:H3K36me3,K562:H3K36me3,IMR90:H4K5ac,HSMM:H3K36me3,IMR90:DNase1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,IMR90:H3K4ac,IMR90:H3K4me1,IMR90:H3K36me3,IMR90:H3K27ac,IMR90:H4K91ac,NHEK:H3K36me3,HepG2:H3K36me3,IMR90:H3K18ac,GM06990:H3K36me3",,,,0.3712,0.3847,0.4612,0.45,0.42,0.46,,0.725566(N),1.000(P),"1.59,1.59,1.59,1.59,1.59,1.59,1.59,1.59(T,T,T,T,T,T,T,T)",0.0000(T),0.231,1.424511,5.82,-3.74,0.561000,-0.393000,-0.421000,0.574000,0.428000,0.018000,11.6767
synonymous_variant,SLC5A1,SILENT,NM_000343.3:p.Thr633Thr/c.1899G>A,acG/acA,LOW,,0.0333466,0.0198,rs33943816,,,,,,chr22,32506104,32506104,G,A,het,"synonymous_variant(LOW|SILENT|acG/acA|p.Thr633Thr/c.1899G>A|664|SLC5A1|protein_coding|CODING|NM_000343.3|15|1),synonymous_variant(LOW|SILENT|acG/acA|p.Thr506Thr/c.1518G>A|537|SLC5A1|protein_coding|CODING|NM_001256314.1|14|1)","GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0532,0.0418,0.0577,0.05,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,C22orf42,MISSENSE,NM_001010859.1:p.Arg82His/c.245G>A,cGc/cAc,MODERATE,,0.0299521,0.0169,rs142906642,0.51(T),0.0(B),0(N),-1.0051(T),,chr22,32550293,32550293,C,T,het,missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg82His/c.245G>A|251|C22orf42|protein_coding|CODING|NM_001010859.1|2|1),"HUVEC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0491,0.036,0.0527,0.04,0.01,0.05,,,1.000(N),1.47(T),0.0052(T),0.068,-1.416868,0.167,-0.334,-0.849000,-0.841000,-2.447000,0.001000,0.000000,0.000000,.
missense_variant,C22orf42,MISSENSE,NM_001010859.1:p.Leu73Pro/c.218T>C,cTg/cCg,MODERATE,,0.582468,0.4167,rs5998267,0.15(T),0.0(B),0(N),-0.9957(T),,chr22,32554985,32554985,A,G,het,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu73Pro/c.218T>C|251|C22orf42|protein_coding|CODING|NM_001010859.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6104,0.4193,0.4831,0.57,0.80,0.46,,,1.000(P),1.36(T),0.0000(T),0.039,-1.533546,.,.,-2.094000,-2.036000,-1.336000,0.021000,0.021000,0.003000,.
missense_variant,RFPL3,MISSENSE,NM_001098535.1:p.Gln15His/c.45A>C,caA/caC,MODERATE,,0.144569,0.4583,rs58637580,1(T),0.0(B),0.345(N),-0.9774(T),,chr22,32754103,32754103,A,C,het,"missense_variant(MODERATE|MISSENSE|caA/caC|p.Gln15His/c.45A>C|317|RFPL3|protein_coding|CODING|NM_001098535.1|1|1),downstream_gene_variant(MODIFIER||1790|||RFPL3S||NON_CODING|NR_001450.3||1),downstream_gene_variant(MODIFIER||1790|||RFPL3S||NON_CODING|NR_002596.2||1),downstream_gene_variant(MODIFIER||1790|||RFPL3S||NON_CODING|NR_104232.1||1),intron_variant(MODIFIER|||c.-5-38A>C|288|RFPL3|protein_coding|CODING|NM_006604.2|1|1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1268,0.0893,0.0408,0.04,0.03,0.05,,,1.000(P),0.66(T),0.0000(T),0.023,-1.042871,0.784,-1.26,-2.543000,-1.119000,-2.692000,0.029000,0.002000,0.002000,1.4237
missense_variant,RFPL3,MISSENSE,NM_001098535.1:p.Thr58Ala/c.172A>G,Acc/Gcc,MODERATE,,0.147165,0.4603,rs57676160,0.9(T),0.001(B),0.83(L),-0.9670(T),,chr22,32754230,32754230,A,G,het,"missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr58Ala/c.172A>G|317|RFPL3|protein_coding|CODING|NM_001098535.1|1|1),missense_variant(MODERATE|MISSENSE|Acc/Gcc|p.Thr29Ala/c.85A>G|288|RFPL3|protein_coding|CODING|NM_006604.2|2|1),downstream_gene_variant(MODIFIER||1663|||RFPL3S||NON_CODING|NR_001450.3||1),downstream_gene_variant(MODIFIER||1663|||RFPL3S||NON_CODING|NR_002596.2||1),downstream_gene_variant(MODIFIER||1663|||RFPL3S||NON_CODING|NR_104232.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1278,0.0951,0.0427,0.05,0.04,0.05,,,1.000(P),"-3.48,-3.48,-3.48(D,D,D)",0.0000(T),0.02,-2.102065,0.622,-1.24,-2.809000,-2.719000,0.834000,0.021000,0.000000,0.994000,.
synonymous_variant,RFPL3,SILENT,NM_001098535.1:p.Thr58Thr/c.174C>T,acC/acT,LOW,,0.144569,0.4583,rs57606003,,,,,,chr22,32754232,32754232,C,T,het,"synonymous_variant(LOW|SILENT|acC/acT|p.Thr58Thr/c.174C>T|317|RFPL3|protein_coding|CODING|NM_001098535.1|1|1),synonymous_variant(LOW|SILENT|acC/acT|p.Thr29Thr/c.87C>T|288|RFPL3|protein_coding|CODING|NM_006604.2|2|1),downstream_gene_variant(MODIFIER||1661|||RFPL3S||NON_CODING|NR_001450.3||1),downstream_gene_variant(MODIFIER||1661|||RFPL3S||NON_CODING|NR_002596.2||1),downstream_gene_variant(MODIFIER||1661|||RFPL3S||NON_CODING|NR_104232.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1268,0.0893,0.0408,0.05,0.04,0.05,,,,,,,,,,,,,,,,
missense_variant,RFPL3,MISSENSE,NM_001098535.1:p.Met83Thr/c.248T>C,aTg/aCg,MODERATE,,0.145767,0.4583,rs16987625,0.43(T),0.0(B),0(N),-0.9240(T),,chr22,32754306,32754306,T,C,het,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met83Thr/c.248T>C|317|RFPL3|protein_coding|CODING|NM_001098535.1|1|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met54Thr/c.161T>C|288|RFPL3|protein_coding|CODING|NM_006604.2|2|1),downstream_gene_variant(MODIFIER||1587|||RFPL3S||NON_CODING|NR_001450.3||1),downstream_gene_variant(MODIFIER||1587|||RFPL3S||NON_CODING|NR_002596.2||1),downstream_gene_variant(MODIFIER||1587|||RFPL3S||NON_CODING|NR_104232.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1268,0.0908,0.0408,0.05,0.05,0.06,,,1.000(P),"1.98,1.98,1.98(T,T,T)",0.0000(T),0.033,-2.141191,0.851,-1.7,-1.366000,-2.354000,-0.115000,0.007000,0.000000,0.000000,2.4356
synonymous_variant,RFPL3,SILENT,NM_001098535.1:p.Pro108Pro/c.324C>G,ccC/ccG,LOW,,0.0173722,0,rs117491646,,,,,,chr22,32754382,32754382,C,G,het,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro108Pro/c.324C>G|317|RFPL3|protein_coding|CODING|NM_001098535.1|1|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro79Pro/c.237C>G|288|RFPL3|protein_coding|CODING|NM_006604.2|2|1),downstream_gene_variant(MODIFIER||1511|||RFPL3S||NON_CODING|NR_001450.3||1),downstream_gene_variant(MODIFIER||1511|||RFPL3S||NON_CODING|NR_002596.2||1),downstream_gene_variant(MODIFIER||1511|||RFPL3S||NON_CODING|NR_104232.1||1)","HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0337,0.0173,0.0398,0.02,0.00,0.03,,,,,,,,,,,,,,,,
missense_variant,RFPL3,MISSENSE,NM_001098535.1:p.Tyr181Cys/c.542A>G,tAc/tGc,MODERATE,COSM149282(2),0.169928,0.4583,rs5749408,0.06(T),0.093(B),2.545(M),-1.0213(T),,chr22,32756407,32756407,A,G,het,"missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr181Cys/c.542A>G|317|RFPL3|protein_coding|CODING|NM_001098535.1|2|1),missense_variant(MODERATE|MISSENSE|tAc/tGc|p.Tyr152Cys/c.455A>G|288|RFPL3|protein_coding|CODING|NM_006604.2|3|1),non_coding_exon_variant(MODIFIER|||n.694T>C||RFPL3S||NON_CODING|NR_001450.3|4|1),non_coding_exon_variant(MODIFIER|||n.781T>C||RFPL3S||NON_CODING|NR_002596.2|5|1),non_coding_exon_variant(MODIFIER|||n.626T>C||RFPL3S||NON_CODING|NR_104232.1|5|1)","HUVEC:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1268,0.1124,0.0467,0.08,0.11,0.06,,,0.000(P),"-0.89,-0.89,-0.89(T,T,T)",0.0000(T),0.243,0.870091,0.704,0.704,0.172000,0.528000,1.786000,0.050000,0.246000,0.989000,5.601
synonymous_variant,RFPL3,SILENT,NM_001098535.1:p.Thr230Thr/c.690G>C,acG/acC,LOW,,0.155751,0.4603,rs136471,,,,,,chr22,32756555,32756555,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr230Thr/c.690G>C|317|RFPL3|protein_coding|CODING|NM_001098535.1|2|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr201Thr/c.603G>C|288|RFPL3|protein_coding|CODING|NM_006604.2|3|1),non_coding_exon_variant(MODIFIER|||n.546C>G||RFPL3S||NON_CODING|NR_001450.3|4|1),non_coding_exon_variant(MODIFIER|||n.633C>G||RFPL3S||NON_CODING|NR_002596.2|5|1),non_coding_exon_variant(MODIFIER|||n.478C>G||RFPL3S||NON_CODING|NR_104232.1|5|1)","HUVEC:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,0.1268,0.0951,0.0636,,,,,,,,,,,,,,,,,,,
synonymous_variant,RFPL3,SILENT,NM_001098535.1:p.Gln293Gln/c.879A>G,caA/caG,LOW,,,,rs2076035,,,,,,chr22,32756744,32756744,A,G,hom,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln293Gln/c.879A>G|317|RFPL3|protein_coding|CODING|NM_001098535.1|2|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln264Gln/c.792A>G|288|RFPL3|protein_coding|CODING|NM_006604.2|3|1),non_coding_exon_variant(MODIFIER|||n.357T>C||RFPL3S||NON_CODING|NR_001450.3|4|1),non_coding_exon_variant(MODIFIER|||n.444T>C||RFPL3S||NON_CODING|NR_002596.2|5|1),non_coding_exon_variant(MODIFIER|||n.289T>C||RFPL3S||NON_CODING|NR_104232.1|5|1)","HUVEC:H3K27me3,HeLa-S3:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,RTCB,SILENT,NM_014306.4:p.Val482Val/c.1446A>G,gtA/gtG,LOW,,0.163139,0.4593,rs11635,,,,,,chr22,32784051,32784051,T,C,het,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val482Val/c.1446A>G|505|RTCB|protein_coding|CODING|NM_014306.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1268,0.0893,0.0467,0.07,0.10,0.06,,,,,,,,,,,,,,,,
synonymous_variant,RTCB,SILENT,NM_014306.4:p.Gln201Gln/c.603G>A,caG/caA,LOW,,0.445687,0.5179,rs5749426,,,,,,chr22,32795641,32795641,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln201Gln/c.603G>A|505|RTCB|protein_coding|CODING|NM_014306.4|6|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3252,0.3487,0.3032,0.44,0.61,0.35,,,,,,,,,,,,,,,,
missense_variant,BPIFC,MISSENSE,NM_174932.2:p.Ser451Pro/c.1351T>C,Tcc/Ccc,MODERATE,COSM444914(2),0.620807,0.5565,rs5998478,1(T),"0.0,0.0(B,B)",-3.005(N),-1.0097(T),,chr22,32811952,32811952,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser451Pro/c.1351T>C|507|BPIFC|protein_coding|CODING|NM_174932.2|14|1),"HUVEC:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5215,0.5764,0.4801,0.63,0.84,0.52,,0.000000(N),0.000(P),"4.9,4.9,4.9,4.9(T,T,T,T)",0.0000(T),0.141,0.434913,5.5,5.5,-0.128000,1.470000,3.469000,0.903000,1.000000,1.000000,10.8732
missense_variant,FBXO7,MISSENSE,NM_001033024.1:p.Leu12Arg/c.35T>G,cTc/cGc,MODERATE,COSM444916(4),0.154952,0.1567,rs8137714,0.16(T),0.001(B),0(N),-1.0694(T),,chr22,32871383,32871383,T,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu12Arg/c.35T>G|443|FBXO7|protein_coding|CODING|NM_001033024.1|1|1),splice_region_variant(LOW|||c.35T>G|443|FBXO7|protein_coding|CODING|NM_001033024.1|1|1),splice_region_variant(LOW||||408|FBXO7|protein_coding|CODING|NM_001257990.1|1|1),5_prime_UTR_variant(MODIFIER||3805|c.-223T>G|408|FBXO7|protein_coding|CODING|NM_001257990.1|1|1),intron_variant(MODIFIER|||c.122+272T>G|522|FBXO7|protein_coding|CODING|NM_012179.3|1|1)","K562:ZBTB7A,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,H1ESC:H3K4me2,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H3K27ac,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,GM12878:ZEB1,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HepG2:TAF1,K562:H3K79me2,HUVEC:H3K27ac,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.1135,0.2161,0.1928,0.19,0.15,0.20,,,0.137(P),"0.81,-0.15(T,T)",0.0000(T),0.145,0.027415,3.07,-6.13,-0.441000,-1.638000,-0.257000,0.001000,0.002000,0.003000,0.5836
start_lost,FBXO7,MISSENSE,NM_001257990.1:p.Met1?/c.3G>A,atG/atA,HIGH,COSM3759153(1),0.48742,0.6915,rs11107,0.19(T),"0.0,0.0,0.0(B,B,B)",-2.015(N),-0.9123(T),FBXO7:0.33(3);,chr22,32875190,32875190,G,A,het,"start_lost(HIGH|MISSENSE|atG/atA|p.Met1?/c.3G>A|408|FBXO7|protein_coding|CODING|NM_001257990.1|2|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met115Ile/c.345G>A|522|FBXO7|protein_coding|CODING|NM_012179.3|2|1),missense_variant(MODERATE|MISSENSE|atG/atA|p.Met36Ile/c.108G>A|443|FBXO7|protein_coding|CODING|NM_001033024.1|2|1)","HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,0.4489,0.5663,0.3748,0.37,0.37,0.37,,0.043074(N),0.000(P),"1.27,1.27,1.27,1.27,1.27(T,T,T,T,T)",0.0000(T),0.257,-0.776340,4.53,-3.63,-0.578000,-0.629000,-0.024000,0.231000,0.000000,0.000000,0.4433
synonymous_variant,FBXO7,SILENT,NM_012179.3:p.Leu317Leu/c.949C>T,Ctg/Ttg,LOW,COSM3759156(1),0.48762,0.6925,rs9726,,,,,,chr22,32887150,32887150,C,T,het,"synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu238Leu/c.712C>T|443|FBXO7|protein_coding|CODING|NM_001033024.1|6|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu203Leu/c.607C>T|408|FBXO7|protein_coding|CODING|NM_001257990.1|6|1),synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu317Leu/c.949C>T|522|FBXO7|protein_coding|CODING|NM_012179.3|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4499,0.5663,0.3748,0.37,0.37,0.37,,,,,,,,,,,,,,,,
missense_variant,FBXO7,MISSENSE,NM_012179.3:p.Asp516His/c.1546G>C,Gat/Cat,MODERATE,,0.000399361,0,rs34316445,0(D),"0.973,0.983,0.973(D,D,D)",2.515(M),0.3671(D),,chr22,32894494,32894494,G,C,het,"missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp437His/c.1309G>C|443|FBXO7|protein_coding|CODING|NM_001033024.1|9|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp402His/c.1204G>C|408|FBXO7|protein_coding|CODING|NM_001257990.1|9|1),missense_variant(MODERATE|MISSENSE|Gat/Cat|p.Asp516His/c.1546G>C|522|FBXO7|protein_coding|CODING|NM_012179.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.002,0,0,0.00,0.00,0.00,,0.000000(D),1.000(D),"-1.2,-0.69,-0.62(T,T,T)",0.6679(D),0.947,3.099556,6.03,6.03,0.655000,2.861000,7.159000,0.339000,0.253000,1.000000,20.5568
synonymous_variant,TIMP3,SILENT,NM_000362.4:p.His83His/c.249T>C,caT/caC,LOW,COSM4002168(1),0.650958,0.6121,rs9862,,,,,,chr22,33253280,33253280,T,C,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His83His/c.249T>C|211|TIMP3|protein_coding|CODING|NM_000362.4|3|1),intron_variant(MODIFIER|||c.708+7622A>G|579|SYN3|protein_coding|CODING|NM_001135774.1|6|1),intron_variant(MODIFIER|||c.711+7622A>G|580|SYN3|protein_coding|CODING|NM_003490.3|5|1),intron_variant(MODIFIER|||c.711+7622A>G|444|SYN3|protein_coding|CODING|NM_133633.2|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.5184,0.696,0.4821,0.61,0.83,0.50,,,,,,,,,,,,,,,,
synonymous_variant,TIMP3,SILENT,NM_000362.4:p.Ser87Ser/c.261C>T,tcC/tcT,LOW,COSM4002169(1),0.143371,0.3581,rs11547635,,,,,,chr22,33253292,33253292,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser87Ser/c.261C>T|211|TIMP3|protein_coding|CODING|NM_000362.4|3|1),intron_variant(MODIFIER|||c.708+7610G>A|579|SYN3|protein_coding|CODING|NM_001135774.1|6|1),intron_variant(MODIFIER|||c.711+7610G>A|580|SYN3|protein_coding|CODING|NM_003490.3|5|1),intron_variant(MODIFIER|||c.711+7610G>A|444|SYN3|protein_coding|CODING|NM_133633.2|5|1)","H1ESC:H3K36me3,GM06990:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.0746,0.232,0.0616,0.07,0.06,0.07,,,,,,,,,,,,,,,,
synonymous_variant,LARGE,SILENT,NM_004737.4:p.Ala145Ala/c.435C>T,gcC/gcT,LOW,COSM4156187(1),0.412939,0.5615,rs86487,,,,,,chr22,34022284,34022284,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala145Ala/c.435C>T|756|LARGE|protein_coding|CODING|NM_004737.4|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala145Ala/c.435C>T|756|LARGE|protein_coding|CODING|NM_133642.3|4|1)",,,RCV000081181.1,,0.5266,0.4841,0.505,0.38,0.16,0.48,,,,,,,,,,,,,,,,
missense_variant,ISX,MISSENSE,NM_001008494.1:p.Ser28Gly/c.82A>G,Agc/Ggc,MODERATE,,0.79992,0.8552,rs361863,0.44(T),0.0(B),-1.04(N),-0.9318(T),,chr22,35463162,35463162,A,G,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser28Gly/c.82A>G|245|ISX|protein_coding|CODING|NM_001008494.1|1|1),"HepG2:H3K4me2,K562:H3K36me3,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.8834,0.6441,0.671,0.73,0.86,0.66,,0.041768(N),1.000(P),"-2.65,-2.65(D,D)",0.0000(T),0.004,0.574716,5.13,5.13,-0.119000,1.177000,0.474000,0.989000,1.000000,0.724000,9.8544
synonymous_variant,ISX,SILENT,NM_001008494.1:p.Ile33Ile/c.99T>C,atT/atC,LOW,,0.79972,0.8552,rs361668,,,,,,chr22,35463179,35463179,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile33Ile/c.99T>C|245|ISX|protein_coding|CODING|NM_001008494.1|1|1),"K562:H3K36me3,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.8834,0.6441,0.671,0.73,0.86,0.66,,,,,,,,,,,,,,,,
missense_variant,ISX,MISSENSE,NM_001008494.1:p.Pro57Ser/c.169C>T,Ccc/Tcc,MODERATE,,0.57508,0.7827,rs362090,0.76(T),0.001(B),0(N),-0.9748(T),,chr22,35463249,35463249,C,T,hom,missense_variant(MODERATE|MISSENSE|Ccc/Tcc|p.Pro57Ser/c.169C>T|245|ISX|protein_coding|CODING|NM_001008494.1|1|1),"K562:H3K36me3,HepG2:H3K27me3",,,,0.6299,0.5432,0.507,0.49,0.47,0.49,,0.304336(N),1.000(P),"-2.72,-2.72(D,D)",0.0000(T),0.022,0.867336,4.9,-6.22,-0.140000,-0.993000,-2.951000,0.000000,0.000000,0.000000,1.7971
missense_variant,HMOX1,MISSENSE,NM_002133.2:p.Asp7His/c.19G>C,Gac/Cac,MODERATE,,0.0363419,0.0536,rs2071747,0.03(D),0.001(B),0(N),-1.0339(T),,chr22,35777185,35777185,G,C,het,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp7His/c.19G>C|288|HMOX1|protein_coding|CODING|NM_002133.2|1|1),"H1ESC:PolII,NHEK:CTCF,NHEK:H3K9ac,H1ESC:USF1,HepG2:H3K4me2,GM12878:USF1,HeLa-S3:DNase1,H1ESC:H3K9ac,HMEC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HepG2:USF1,HMEC:H3K4me2,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HeLa-S3:CTCF,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:Ap2alpha,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:Ap2gamma,HepG2:H3K9ac,NHEK:H3K4me2,HepG2:TAF1,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,HepG2:Rad21,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,GM12878:H2AZ",,,,0.0164,0.0216,0.0586,0.03,0.02,0.04,,0.238258(N),0.882(N),"2.21,2.26(T,T)",0.0034(T),0.153,1.249851,3.44,2.43,0.650000,1.033000,0.359000,0.335000,0.996000,0.604000,6.7633
missense_variant,HMOX1,MISSENSE,NM_002133.2:p.Arg262Cys/c.784C>T,Cgc/Tgc,MODERATE,,0.000199681,0,rs149487862,0.21(T),0.009(B),0(N),-1.0211(T),,chr22,35789508,35789508,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg262Cys/c.784C>T|288|HMOX1|protein_coding|CODING|NM_002133.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,0.00,0.00,0.00,,0.378385(N),1.000(N),2.28(T),0.0187(T),0.179,1.347695,5.57,3.48,-0.230000,0.679000,0.659000,0.002000,0.000000,0.000000,4.3644
missense_variant,MCM5,MISSENSE,NM_006739.3:p.Thr180Ser/c.539C>G,aCc/aGc,MODERATE,,0.0415335,0.006,rs2307340,0.68(T),"0.001,0.001(B,B)",0.115(N),-0.8968(T),,chr22,35802661,35802661,C,G,het,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr180Ser/c.539C>G|734|MCM5|protein_coding|CODING|NM_006739.3|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0665,0.0288,0.0855,0.07,0.03,0.09,,0.134238(N),0.994(N),"3.58,3.58,3.58,3.58(T,T,T,T)",0.0003(T),0.238,0.243830,3.94,0.199,0.561000,0.397000,-0.180000,0.998000,1.000000,0.701000,8.3315
missense_variant,APOL5,MISSENSE,NM_030642.1:p.Thr272Met/c.815C>T,aCg/aTg,MODERATE,,0.386382,0.5962,rs2076671,0.03(D),0.21(B),0.695(N),-0.9559(T),,chr22,36122930,36122930,C,T,het,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr272Met/c.815C>T|433|APOL5|protein_coding|CODING|NM_030642.1|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.4663,0.2349,0.2903,0.31,0.32,0.31,,0.097668(U),1.000(P),3.87(T),0.0000(T),0.022,3.617524,3.8,-0.258,-1.137000,-0.784000,0.057000,0.009000,0.000000,0.008000,2.6112
missense_variant,APOL5,MISSENSE,NM_030642.1:p.Ser406Cys/c.1217C>G,tCt/tGt,MODERATE,,0.362021,0.5942,rs2076673,0(D),0.953(D),0(N),-0.9548(T),,chr22,36124860,36124860,C,G,het,missense_variant(MODERATE|MISSENSE|tCt/tGt|p.Ser406Cys/c.1217C>G|433|APOL5|protein_coding|CODING|NM_030642.1|4|1),,,,,0.4663,0.2291,0.2942,0.28,0.22,0.31,,,1.000(P),3.48(T),0.0000(T),0.066,1.710932,1.95,0.921,0.195000,0.387000,-0.128000,0.089000,0.008000,0.011000,4.2875
missense_variant,RBFOX2,MISSENSE,NM_001082578.1:p.His8Gln/c.24T>G,caT/caG,MODERATE,COSM4156193(2),,,rs9607299,0.53(T),"0.0,0.0(B,B)",,-1.0124(T),,chr22,36424450,36424450,A,C,hom,"missense_variant(MODERATE|MISSENSE|caT/caG|p.His8Gln/c.24T>G|451|RBFOX2|protein_coding|CODING|NM_001082578.1|1|1),missense_variant(MODERATE|MISSENSE|caT/caG|p.His8Gln/c.24T>G|450|RBFOX2|protein_coding|CODING|NM_001082579.1|1|1)","NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,H1ESC:H3K9ac,GM06990:H3K27me3,NHEK:H3K4me3,H1ESC:TAF1,HUVEC:H3K4me3,GM12878:H3K27me3,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,K562:Egr1,HepG2:H3K4me3,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:H3K27me3,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,,,,,,,,,0.000(P),1.02(T),0.0000(T),0.144,-0.016281,3.1,0.604,-0.371000,0.135000,-0.135000,0.974000,1.000000,0.986000,1.7355
synonymous_variant,APOL3,SILENT,NM_145640.2:p.Gly319Gly/c.957T>A,ggT/ggA,LOW,COSM149285(3),0.36262,0.3502,rs132618,,,,,,chr22,36537500,36537500,A,T,hom,"synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly319Gly/c.957T>A|402|APOL3|protein_coding|CODING|NM_145640.2|3|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly119Gly/c.357T>A|202|APOL3|protein_coding|CODING|NM_145641.2|5|1),synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly119Gly/c.357T>A|202|APOL3|protein_coding|CODING|NM_145642.2|4|1),non_coding_exon_variant(MODIFIER|||n.1321T>A||APOL3||CODING|NR_027833.1|4|1),non_coding_exon_variant(MODIFIER|||n.1205T>A||APOL3||CODING|NR_027834.1|5|1),non_coding_exon_variant(MODIFIER|||n.1092T>A||APOL3||CODING|NR_027835.1|4|1)","HUVEC:H3K27me3,HUVEC:H3K36me3,GM12878:H3K36me3,NH-A:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.6247,0.3847,0.496,0.37,0.13,0.49,,,,,,,,,,,,,,,,
missense_variant,APOL3,MISSENSE,NM_145640.2:p.Ser39Arg/c.117C>A,agC/agA,MODERATE,,0.784744,0.9762,rs132653,0.05(D),0.447(P),0(N),-0.8241(T),,chr22,36556823,36556823,G,T,hom,"missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser39Arg/c.117C>A|402|APOL3|protein_coding|CODING|NM_145640.2|1|1),5_prime_UTR_variant(MODIFIER||18967|c.-484C>A|202|APOL3|protein_coding|CODING|NM_145641.2|3|1),5_prime_UTR_variant(MODIFIER||18967|c.-484C>A|202|APOL3|protein_coding|CODING|NM_145642.2|2|1),non_coding_exon_variant(MODIFIER|||n.155C>A||APOL3||CODING|NR_027833.1|1|1),non_coding_exon_variant(MODIFIER|||n.155C>A||APOL3||CODING|NR_027834.1|1|1),non_coding_exon_variant(MODIFIER|||n.155C>A||APOL3||CODING|NR_027835.1|1|1)","CD4:H2AZ,HepG2:H3K4me2,CD4:H3K18ac,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,CD4:H2BK20ac,CD4:H4K8ac,IMR90:DNase1,CD4:H3K4me3,CD4:H3K27ac,GM06990:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,GM12878:PolII,CD4:H4K5ac,CD4:H3K4ac,IMR90:H3K27me3,CD4:PolII,NHEK:H3K4me2,CD4:H3K4me2,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,NHEK:DNase1,CD4:H2BK12ac",,,,0.9049,0.8919,0.8588,0.72,0.50,0.83,,0.005192(N),1.000(P),"3.57,0.02(T,T)",0.0000(T),0.051,0.511823,2.62,-4.25,-1.238000,-0.934000,-0.708000,0.000000,0.000000,0.000000,0.9755
synonymous_variant,APOL4,SILENT,NM_145660.2:p.Val325Val/c.975C>T,gtC/gtT,LOW,,0.646965,0.8234,rs6000172,0.18(T),"0.102,0.062(B,B)",0.345(N),-1.0556(T),,chr22,36587202,36587202,G,A,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val322Val/c.966C>T|347|APOL4|protein_coding|CODING|NM_030643.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val325Val/c.975C>T|350|APOL4|protein_coding|CODING|NM_145660.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.589,0.5317,0.496,0.56,0.67,0.50,,0.865866(N),1.000(P),"3.97,3.97(T,T)",0.0000(T),.,0.069337,2.2,-4.41,-2.258000,-1.840000,-1.252000,0.000000,0.000000,0.000000,0.477
synonymous_variant,APOL4,SILENT,NM_145660.2:p.Gly318Gly/c.954C>A,ggC/ggA,LOW,,0.647165,0.8244,rs6000173,0.12(T),"0.977,0.961(D,D)",2.275(M),-1.0488(T),,chr22,36587223,36587223,G,T,hom,"synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly315Gly/c.945C>A|347|APOL4|protein_coding|CODING|NM_030643.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ggC/ggA|p.Gly318Gly/c.954C>A|350|APOL4|protein_coding|CODING|NM_145660.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.589,0.5317,0.496,0.56,0.67,0.50,,0.196012(N),1.000(P),"3.56,3.56(T,T)",0.0000(T),.,1.868063,2.2,1.17,0.407000,0.492000,1.560000,0.012000,0.002000,0.011000,4.6852
missense_variant,APOL4,MISSENSE,NM_145660.2:p.Cys300Arg/c.898T>C,Tgt/Cgt,MODERATE,COSM4156195(1),0.646965,0.8234,rs6000174,,,,,,chr22,36587279,36587279,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys297Arg/c.889T>C|347|APOL4|protein_coding|CODING|NM_030643.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Tgt/Cgt|p.Cys300Arg/c.898T>C|350|APOL4|protein_coding|CODING|NM_145660.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.589,0.5317,0.496,0.56,0.68,0.50,,,,,,,,,,,,,,,,
missense_variant,APOL4,MISSENSE,NM_145660.2:p.Phe231Leu/c.691T>C,Ttt/Ctt,MODERATE,,0.647364,0.8244,rs2227167,,,,,,chr22,36587486,36587486,A,G,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe228Leu/c.682T>C|347|APOL4|protein_coding|CODING|NM_030643.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe231Leu/c.691T>C|350|APOL4|protein_coding|CODING|NM_145660.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K36me3,NH-A:DNase1,HSMM:DNase1,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.589,0.5317,0.497,0.56,0.66,0.50,,,,,,,,,,,,,,,,
synonymous_variant,APOL4,SILENT,NM_145660.2:p.Ala222Ala/c.666G>A,gcG/gcA,LOW,COSM4156196(1),0.653155,0.8442,rs2227168,0.4(T),"0.002,0.001(B,B)",0.35(N),-1.0258(T),,chr22,36587511,36587511,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala219Ala/c.657G>A|347|APOL4|protein_coding|CODING|NM_030643.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala222Ala/c.666G>A|350|APOL4|protein_coding|CODING|NM_145660.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K36me3,IMR90:DNase1,NH-A:DNase1,HSMM:DNase1,NHEK:H3K27me3",,,,0.592,0.5346,0.497,0.56,0.67,0.50,,0.016549(N),1.000(P),"3.96,3.96(T,T)",0.0000(T),.,0.259988,2.01,-4.03,-0.481000,-1.371000,-3.431000,0.000000,0.000000,0.000000,0.7218
synonymous_variant,APOL4,SILENT,NM_145660.2:p.Glu75Glu/c.225G>A,gaG/gaA,LOW,,0.642572,0.8244,rs2227169,,,,,,chr22,36587952,36587952,C,T,hom,"synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu72Glu/c.216G>A|347|APOL4|protein_coding|CODING|NM_030643.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu75Glu/c.225G>A|350|APOL4|protein_coding|CODING|NM_145660.2|5|1|WARNING_TRANSCRIPT_INCOMPLETE)","GM06990:H3K27me3,HUVEC:H3K27me3,K562:H3K36me3,NHEK:H3K27me3",,,,0.5869,0.5231,0.4851,0.55,0.67,0.50,,,,,,,,,,,,,,,,
synonymous_variant,APOL4,SILENT,NM_145660.2:p.Phe65Phe/c.195T>C,ttT/ttC,LOW,,0.700679,0.8502,rs2007468,,,,,,chr22,36591380,36591380,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe62Phe/c.186T>C|347|APOL4|protein_coding|CODING|NM_030643.4|5|1|WARNING_TRANSCRIPT_INCOMPLETE),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe65Phe/c.195T>C|350|APOL4|protein_coding|CODING|NM_145660.2|4|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:CTCF,K562:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,NHEK:H3K27me3,HepG2:CTCF,H1ESC:CTCF",,,,0.6186,0.5605,0.504,0.61,0.81,0.51,,,,,,,,,,,,,,,,
splice_donor_variant,APOL4,protein_coding,NM_030643.4:c.36T>G,,HIGH,COSM3720832(1),0.118011,0.0645,rs386503239,,,,,APOL4:0.50(2);,chr22,36597744,36597744,A,C,het,"splice_donor_variant(HIGH|||c.36T>G|347|APOL4|protein_coding|CODING|NM_030643.4|3|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.35+2T>G|347|APOL4|protein_coding|CODING|NM_030643.4|3|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||c.44+295T>G|350|APOL4|protein_coding|CODING|NM_145660.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:Cmyc,K562:H3K9ac,NHEK:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.0644,0.0836,0.1441,0.12,0.16,0.10,,,0.997(P),,,.,-0.808557,0.837,-1.67,-1.945000,-2.120000,-3.874000,0.000000,0.000000,0.000000,2.4879
missense_variant,APOL4,MISSENSE,NM_145660.2:p.Val12Leu/c.34G>C,Gtc/Ctc,MODERATE,,0.621006,0.9028,rs80587,1(T),0.0(B),,-0.9674(T),,chr22,36598049,36598049,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val12Leu/c.34G>C|350|APOL4|protein_coding|CODING|NM_145660.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),5_prime_UTR_variant(MODIFIER||269|c.-165G>C|347|APOL4|protein_coding|CODING|NM_030643.4|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:Max,K562:PolII,HSMM:DNase1,K562:Cmyc,NHEK:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.5562,0.4755,0.4125,0.48,0.63,0.39,,0.000002(N),1.000(P),"1.59,3.88(T,T)",0.0000(T),0.016,-1.470993,1.35,0.181,-0.647000,-0.292000,-1.861000,0.281000,0.012000,0.000000,3.6031
missense_variant,APOL4,MISSENSE,NM_145660.2:p.Ile9Val/c.25A>G,Atc/Gtc,MODERATE,,0.621206,0.9038,rs132736,1(T),0.0(B),,-0.9716(T),,chr22,36598058,36598058,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile9Val/c.25A>G|350|APOL4|protein_coding|CODING|NM_145660.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),5_prime_UTR_variant(MODIFIER||278|c.-174A>G|347|APOL4|protein_coding|CODING|NM_030643.4|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:Max,K562:PolII,HSMM:DNase1,K562:Cmyc,NHEK:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.5562,0.4755,0.4125,0.48,0.63,0.39,,0.022689(N),1.000(P),"1.7,3.95(T,T)",0.0000(T),0.013,-2.135278,1.55,-0.9,-2.655000,-0.875000,-0.362000,0.010000,0.004000,0.000000,3.5521
start_lost,APOL4,MISSENSE,NM_145660.2:p.Met1?/c.2T>A,aTg/aAg,HIGH,,0.0766773,0.0694,rs6000181,0(D),0.003(B),,-1.0181(T),APOL4:0.50(2);,chr22,36598081,36598081,A,T,het,"start_lost(HIGH|MISSENSE|aTg/aAg|p.Met1?/c.2T>A|350|APOL4|protein_coding|CODING|NM_145660.2|2|1|WARNING_TRANSCRIPT_INCOMPLETE),5_prime_UTR_variant(MODIFIER||301|c.-197T>A|347|APOL4|protein_coding|CODING|NM_030643.4|2|1|WARNING_TRANSCRIPT_INCOMPLETE)","K562:Max,K562:PolII,K562:Cmyc,NHEK:H3K27me3,K562:H3K4me2,K562:DNase1",,,,0.0644,0.0735,0.1441,0.08,0.04,0.11,,0.017747(U),0.000(P),"1.69,3.94(T,T)",0.0004(T),0.34,1.295794,1.78,-3.55,0.172000,-0.948000,-0.059000,0.011000,0.000000,0.000000,4.7164
missense_variant,APOL2,MISSENSE,NM_030882.2:p.Ile245Val/c.733A>G,Atc/Gtc,MODERATE,,1,1,rs132760,0.45(T),0.001(B),-0.705(N),-1.0620(T),,chr22,36623731,36623731,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile245Val/c.733A>G|337|APOL2|protein_coding|CODING|NM_030882.2|5|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile245Val/c.733A>G|337|APOL2|protein_coding|CODING|NM_145637.1|6|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.748744(N),1.000(P),"4.02,4.02,4.02(T,T,T)",0.0000(T),0.023,-0.858682,3.9,-1.47,-1.427000,-0.413000,-0.172000,0.000000,0.000000,0.000000,3.1873
synonymous_variant,MYH9,SILENT,NM_002473.4:p.Arg1633Arg/c.4899G>A,cgG/cgA,LOW,,0.096246,0.0833,rs5756130,,,,,,chr22,36684331,36684331,C,T,het,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg1633Arg/c.4899G>A|1960|MYH9|protein_coding|CODING|NM_002473.4|34|1),upstream_gene_variant(MODIFIER||1378|||MIR6819||NON_CODING|NR_106877.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000037564.1,,0.0971,0.1023,0.0527,0.06,0.11,0.04,,,,,,,,,,,,,,,,
synonymous_variant,MYH9,SILENT,NM_002473.4:p.Ala1143Ala/c.3429T>G,gcT/gcG,LOW,,0.982628,0.999,rs710181,,,,,,chr22,36691607,36691607,A,C,hom,synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala1143Ala/c.3429T>G|1960|MYH9|protein_coding|CODING|NM_002473.4|26|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,RCV000037556.1,,0.9939,0.987,0.9682,0.97,0.97,0.97,,,,,,,,,,,,,,,,
missense_variant,FOXRED2,MISSENSE,NM_001102371.1:p.Asn308Ser/c.923A>G,aAc/aGc,MODERATE,COSM4156203(2),0.649361,0.2143,rs2277841,0.76(T),0.001(B),0.69(N),-1.0329(T),,chr22,36900271,36900271,T,C,het,"missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn308Ser/c.923A>G|684|FOXRED2|protein_coding|CODING|NM_001102371.1|4|1),missense_variant(MODERATE|MISSENSE|aAc/aGc|p.Asn308Ser/c.923A>G|684|FOXRED2|protein_coding|CODING|NM_024955.5|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.498,0.8127,0.7823,0.83,0.89,0.80,,0.715756(N),1.000(P),"2.5,2.5,2.5(T,T,T)",0.0000(T),0.002,-2.540449,3.24,-6.48,-1.082000,-2.059000,-0.320000,0.010000,0.000000,0.000000,6.6931
missense_variant,FOXRED2,MISSENSE,NM_001102371.1:p.Phe179Leu/c.535T>C,Ttt/Ctt,MODERATE,,0.454473,0.2123,rs760718,0.77(T),0.001(B),-0.125(N),-1.0053(T),,chr22,36900806,36900806,A,G,het,"missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe179Leu/c.535T>C|684|FOXRED2|protein_coding|CODING|NM_001102371.1|3|1),missense_variant(MODERATE|MISSENSE|Ttt/Ctt|p.Phe179Leu/c.535T>C|684|FOXRED2|protein_coding|CODING|NM_024955.5|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.318,0.7089,0.668,0.62,0.47,0.70,,0.000111(N),0.000(P),"2.42,2.42,2.42(T,T,T)",0.0000(T),0.088,-1.750466,5.6,1.94,-0.119000,0.333000,0.726000,0.005000,0.108000,0.423000,9.7994
missense_variant,NCF4,MISSENSE,NM_013416.3:p.Leu272Pro/c.815T>C,cTg/cCg,MODERATE,COSM4156206(1),0.828075,0.6825,rs2075939,,0.0(B),,-0.9569(T),,chr22,37271882,37271882,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu272Pro/c.815T>C|348|NCF4|protein_coding|CODING|NM_013416.3|8|1),intron_variant(MODIFIER|||c.758+57T>C|339|NCF4|protein_coding|CODING|NM_000631.4|8|1)","GM12878:H3K36me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.7751,0.8386,0.836,0.87,0.94,0.84,,0.000000(N),1.000(P),0.24(T),0.0000(T),0.186,1.642568,3.86,-0.74,-0.780000,-0.408000,0.294000,0.002000,0.000000,0.000000,7.4145
synonymous_variant,CSF2RB,SILENT,NM_000395.2:p.Ser426Ser/c.1278C>T,agC/agT,LOW,COSM3759164(2),0.187899,0.0734,rs1801117,,,,,,chr22,37329999,37329999,C,T,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser426Ser/c.1278C>T|897|CSF2RB|protein_coding|CODING|NM_000395.2|10|1),"HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.2137,0.1268,0.2187,0.23,0.24,0.23,,,,,,,,,,,,,,,,
synonymous_variant,CSF2RB,SILENT,NM_000395.2:p.Pro648Pro/c.1944A>G,ccA/ccG,LOW,COSM3766706(2),0.802316,0.9385,rs131840,,,,,,chr22,37333794,37333794,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro648Pro/c.1944A>G|897|CSF2RB|protein_coding|CODING|NM_000395.2|14|1),"HUVEC:H3K36me3,GM12878:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8712,0.8761,0.7932,0.76,0.66,0.81,,,,,,,,,,,,,,,,
synonymous_variant,KCTD17,SILENT,NM_001282684.1:p.His142His/c.426C>T,caC/caT,LOW,,0.83766,0.9931,rs710185,,,,-1.0022(T),,chr22,37453452,37453452,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His142His/c.426C>T|321|KCTD17|protein_coding|CODING|NM_001282684.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His142His/c.426C>T|225|KCTD17|protein_coding|CODING|NM_001282685.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His142His/c.426C>T|220|KCTD17|protein_coding|CODING|NM_001282686.1|4|1),synonymous_variant(LOW|SILENT|caC/caT|p.His142His/c.426C>T|297|KCTD17|protein_coding|CODING|NM_024681.3|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8558,0.9308,0.8738,0.80,0.68,0.87,,,0.000(P),,0.0000(T),.,0.796557,4.46,0.46,0.407000,0.299000,-0.024000,0.781000,1.000000,0.817000,7.132
synonymous_variant,TMPRSS6,SILENT,NM_001289000.1:p.Pro24Pro/c.72G>A,ccG/ccA,LOW,,0.151558,0.131,rs11704654,,,,,,chr22,37499386,37499386,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro24Pro/c.72G>A|824|TMPRSS6|protein_coding|CODING|NM_001289000.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro24Pro/c.72G>A|802|TMPRSS6|protein_coding|CODING|NM_001289001.1|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro33Pro/c.99G>A|811|TMPRSS6|protein_coding|CODING|NM_153609.3|2|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.1616,0.1124,0.1879,0.18,0.15,0.19,,,,,,,,,,,,,,,,
synonymous_variant,IL2RB,SILENT,NM_000878.3:p.Gly250Gly/c.750C>T,ggC/ggT,LOW,COSM3759168(2),0.411142,0.3929,rs228953,,,,-0.8880(T),,chr22,37531436,37531436,G,A,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly250Gly/c.750C>T|551|IL2RB|protein_coding|CODING|NM_000878.3|8|1),"H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4029,0.428,0.4235,0.42,0.41,0.43,,,1.000(P),,0.0000(T),.,0.020364,3.96,2.94,0.549000,2.211000,0.230000,0.005000,0.062000,0.000000,6.7992
missense_variant,C1QTNF6,MISSENSE,NM_031910.3:p.Gly55Asp/c.164G>A,gGc/gAc,MODERATE,,0.0786741,0,rs7290488,0.3(T),"0.23,0.115(B,B)",1.61(L),-1.0993(T),,chr22,37581383,37581383,C,T,het,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly55Asp/c.164G>A|278|C1QTNF6|protein_coding|CODING|NM_031910.3|2|1),missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly55Asp/c.164G>A|278|C1QTNF6|protein_coding|CODING|NM_182486.1|2|1)","HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0.0368,0.1138,0.1958,0.14,0.08,0.18,,0.054378(N),1.000(P),"1.26,1.26(T,T)",0.0002(T),0.158,0.898587,4.49,1.05,0.491000,-0.035000,0.303000,0.406000,0.004000,0.002000,1.764
missense_variant,C1QTNF6,MISSENSE,NM_031910.3:p.Pro42Arg/c.125C>G,cCt/cGt,MODERATE,,0.189097,0.1071,rs229526,0.13(T),"0.483,0.387(P,B)",2.24(M),-1.0555(T),,chr22,37581422,37581422,G,C,het,"missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro42Arg/c.125C>G|278|C1QTNF6|protein_coding|CODING|NM_031910.3|2|1),missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro42Arg/c.125C>G|278|C1QTNF6|protein_coding|CODING|NM_182486.1|2|1)","HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",Hypothyroidism,,,0.1738,0.1369,0.2068,0.24,0.27,0.22,,0.000960(D),0.000(P),"1.08,1.08(T,T)",0.0000(T),0.298,1.557493,4.49,4.49,0.491000,2.039000,3.883000,0.004000,0.229000,1.000000,15.3686
synonymous_variant,C1QTNF6,SILENT,NM_031910.3:p.Ala30Ala/c.90A>G,gcA/gcG,LOW,,0.00139776,0,rs138910187,,,,,,chr22,37581457,37581457,T,C,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala30Ala/c.90A>G|278|C1QTNF6|protein_coding|CODING|NM_031910.3|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala30Ala/c.90A>G|278|C1QTNF6|protein_coding|CODING|NM_182486.1|2|1)","HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3",,,,0,0.0029,0.003,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,C1QTNF6,MISSENSE,NM_031910.3:p.Gly21Val/c.62G>T,gGg/gTg,MODERATE,,0.45008,0.6548,rs229527,0.24(T),"0.007,0.003(B,B)",1.1(L),-0.9710(T),,chr22,37581485,37581485,C,A,het,"missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly21Val/c.62G>T|278|C1QTNF6|protein_coding|CODING|NM_031910.3|2|1),missense_variant(MODERATE|MISSENSE|gGg/gTg|p.Gly21Val/c.62G>T|278|C1QTNF6|protein_coding|CODING|NM_182486.1|2|1)","HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K36me3","Graves_disease,Vitiligo",,,0.4489,0.3934,0.4225,0.40,0.34,0.42,,0.423108(N),0.000(P),"1.22,1.22(T,T)",0.0000(T),0.059,1.893803,4.49,1.04,0.491000,0.876000,0.776000,0.794000,0.983000,0.997000,0.4518
synonymous_variant,CYTH4,SILENT,NM_013385.3:p.Phe210Phe/c.630T>C,ttT/ttC,LOW,COSM3766711(1),0.750399,0.7183,rs2239822,,,,,,chr22,37699377,37699377,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe210Phe/c.630T>C|394|CYTH4|protein_coding|CODING|NM_013385.3|8|1),"GM12878:H3K36me3,H1ESC:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.8262,0.7637,0.6312,0.68,0.78,0.62,,,,,,,,,,,,,,,,
synonymous_variant,ELFN2,SILENT,NM_052906.4:p.Ile315Ile/c.945C>T,atC/atT,LOW,COSM149293(3),0.321286,0.3988,rs2071856,,,,,,chr22,37770630,37770630,G,A,het,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile315Ile/c.945C>T|820|ELFN2|protein_coding|CODING|NM_052906.4|3|1),intron_variant(MODIFIER|||n.174-31886C>T||ELFN2||CODING|NR_110512.1|1|1)","GM12878:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.454,0.1758,0.325,0.28,0.23,0.30,,,,,,,,,,,,,,,,
synonymous_variant,CDC42EP1,SILENT,NM_152243.2:p.Leu216Leu/c.648C>G,ctC/ctG,LOW,COSM1751860(6),0.459265,0.3204,rs2281098,,,,,,chr22,37964299,37964299,C,G,het,"synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu216Leu/c.648C>G|391|CDC42EP1|protein_coding|CODING|NM_152243.2|3|1),downstream_gene_variant(MODIFIER||1954||132|LGALS2|protein_coding|CODING|NM_006498.2||1)","K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.5695,0.6297,0.5626,0.49,0.34,0.57,,,,,,,,,,,,,,,,
synonymous_variant,SH3BP1,SILENT,NM_018957.3:p.Lys140Lys/c.420A>G,aaA/aaG,LOW,COSM444965(2),0.0944489,0.0139,rs74516928,,,,,,chr22,38039128,38039128,A,G,het,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys140Lys/c.420A>G|701|SH3BP1|protein_coding|CODING|NM_018957.3|6|1),intron_variant(MODIFIER|||n.813-157T>C||LOC101927051||NON_CODING|NR_109952.1|5|1)","NHEK:CTCF,H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,CD4:H4K20me1,GM12878:CTCF,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1421,0.0591,0.0616,0.10,0.16,0.08,,,,,,,,,,,,,,,,
synonymous_variant,SH3BP1,SILENT,NM_018957.3:p.Gly177Gly/c.531T>C,ggT/ggC,LOW,COSM3759174(1),0.0944489,0.0139,rs1894529,,,,,,chr22,38039708,38039708,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly177Gly/c.531T>C|701|SH3BP1|protein_coding|CODING|NM_018957.3|7|1),non_coding_exon_variant(MODIFIER|||n.738A>G||LOC101927051||NON_CODING|NR_109952.1|5|1)","CD4:H3K9me1,NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,K562:CTCF,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,CD4:H4K20me1,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,NH-A:CTCF,CD4:H3K4me1,NHEK:H3K36me3,CD4:CTCF,HepG2:H3K36me3,GM12878:DNase1,GM06990:H3K36me3,NHEK:DNase1,GM06990:CTCF",,,,0.1421,0.0591,0.0616,0.10,0.16,0.08,,,,,,,,,,,,,,,,
synonymous_variant,SH3BP1,SILENT,NM_018957.3:p.Ala528Ala/c.1584A>G,gcA/gcG,LOW,COSM3759176(1),0.155351,0.0149,rs762987,,,,,,chr22,38046718,38046718,A,G,het,"splice_region_variant(LOW|||n.125T>C||LOC101927051||NON_CODING|NR_109952.1|2|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala528Ala/c.1584A>G|701|SH3BP1|protein_coding|CODING|NM_018957.3|16|1),non_coding_exon_variant(MODIFIER|||n.125T>C||LOC101927051||NON_CODING|NR_109952.1|2|1)","H1ESC:H3K36me3,NH-A:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1554,0.0735,0.0626,0.17,0.34,0.08,,,,,,,,,,,,,,,,
missense_variant,TRIOBP,MISSENSE,NM_001039141.2:p.Ser217Asn/c.650G>A,aGc/aAc,MODERATE,COSM3723980(2),0.526558,0.7073,rs12628603,0.02(D),0.111(B),0.805(L),-0.9815(T),,chr22,38119213,38119213,G,A,het,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser217Asn/c.650G>A|2365|TRIOBP|protein_coding|CODING|NM_001039141.2|7|1),"H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.4407,0.611,0.5696,0.54,0.41,0.61,,,0.000(P),1.71(T),0.0000(T),0.074,2.213080,4.18,3.16,0.456000,1.910000,3.006000,0.656000,0.709000,0.985000,6.9728
missense_variant,TRIOBP,MISSENSE,NM_001039141.2:p.His1300Arg/c.3899A>G,cAc/cGc,MODERATE,COSM3749766(4),0.601038,0.8859,rs739138,1(T),0.0(B),-0.805(N),-1.0004(T),,chr22,38122462,38122462,A,G,het,missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His1300Arg/c.3899A>G|2365|TRIOBP|protein_coding|CODING|NM_001039141.2|7|1),H1ESC:H3K36me3,,,,0.7515,0.5836,0.7157,0.63,0.35,0.76,,,0.000(P),2.81(T),0.0000(T),0.027,2.065195,4.93,3.9,-0.366000,0.503000,1.338000,0.841000,1.000000,1.000000,4.383
missense_variant,TRIOBP,MISSENSE,NM_001039141.2:p.Glu1372Asp/c.4116G>T,gaG/gaT,MODERATE,COSM3759181(1),0.263978,0.3016,rs8140207,0.4(T),0.02(B),0.695(N),-0.9166(T),,chr22,38130459,38130459,G,T,het,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1372Asp/c.4116G>T|2365|TRIOBP|protein_coding|CODING|NM_001039141.2|9|1),"HepG2:H3K4me2,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3",,RCV000036821.1,,0.4427,0.2968,0.3241,0.23,0.08,0.30,,,1.000(P),1.61(T),0.0000(T),0.04,1.496753,5.45,0.937,0.563000,0.228000,-0.109000,0.219000,0.010000,0.008000,3.1706
missense_variant,TRIOBP,MISSENSE,NM_001039141.2:p.Trp1377Arg/c.4129T>C,Tgg/Cgg,MODERATE,,0.982628,1,rs8140958,0.89(T),0.0(B),-0.695(N),-1.0054(T),,chr22,38130472,38130472,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp1377Arg/c.4129T>C|2365|TRIOBP|protein_coding|CODING|NM_001039141.2|9|1),"HepG2:H3K4me2,H1ESC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3",,RCV000036822.1,,0.9959,0.9683,0.9414,0.96,0.99,0.95,,,1.000(P),2.29(T),0.0000(T),0.044,-1.015298,5.5,0.848,-1.687000,-0.201000,1.021000,0.000000,0.089000,0.554000,1.8367
synonymous_variant,TRIOBP,SILENT,NM_001039141.2:p.Tyr2166Tyr/c.6498C>T,taC/taT,LOW,COSM444972(2),0.264776,0.2927,rs4821708,,,,,,chr22,38164106,38164106,C,T,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr2166Tyr/c.6498C>T|2365|TRIOBP|protein_coding|CODING|NM_001039141.2|19|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr453Tyr/c.1359C>T|652|TRIOBP|protein_coding|CODING|NM_007032.5|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000036833.1,,0.4407,0.2997,0.336,0.23,0.08,0.31,,,,,,,,,,,,,,,,
missense_variant,GCAT,MISSENSE,NM_001171690.1:p.Arg39Cys/c.115C>T,Cgc/Tgc,MODERATE,COSM444973(3),0.597045,0.6815,rs710187,0(D),"0.002,0.006(B,B)",1.83(L),-0.9213(T),,chr22,38204089,38204089,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg39Cys/c.115C>T|445|GCAT|protein_coding|CODING|NM_001171690.1|1|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg39Cys/c.115C>T|419|GCAT|protein_coding|CODING|NM_014291.3|1|1),downstream_gene_variant(MODIFIER||646||194|H1F0|protein_coding|CODING|NM_005318.3||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HSMM:H2AZ,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HepG2:Sin3Ak20,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HMEC:H3K4me2,HepG2:PolII,GM12878:ELF1,H1ESC:H3K4me3,GM12878:Srf,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,K562:Cmyc,HUVEC:H3K4me2,K562:E2F6,HeLa-S3:PolII,K562:H3K9ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K36me3,NHEK:H3K4me2,HepG2:TAF1,H1ESC:Jund,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,HepG2:Yy1,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:H2AZ,GM12878:Sin3Ak20",,,,0.502,0.6023,0.5437,0.57,0.61,0.55,,0.000000(D),0.000(P),"-3.91,-3.69,-1.9(D,D,D)",0.0000(T),0.476,4.190764,4.6,4.6,0.655000,2.545000,6.794000,0.736000,0.999000,1.000000,17.9807
missense_variant,GCAT,MISSENSE,NM_001171690.1:p.Leu77Ser/c.230T>C,tTg/tCg,MODERATE,,0.275559,0.3135,rs2285178,0(D),0.009(B),,-1.0677(T),,chr22,38205989,38205989,T,C,het,"missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu77Ser/c.230T>C|445|GCAT|protein_coding|CODING|NM_001171690.1|2|1),intron_variant(MODIFIER|||c.197-45T>C|419|GCAT|protein_coding|CODING|NM_014291.3|1|1)","K562:H3K36me3,H1ESC:H3K27me3,HepG2:PolII,HepG2:HEY1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3896,0.3098,0.332,0.25,0.14,0.31,,,1.000(P),"-3.52,-1.86(D,D)",0.0000(T),0.075,0.329321,3.68,0.00572,0.402000,-0.072000,0.213000,0.039000,0.000000,0.001000,4.1025
synonymous_variant,GALR3,SILENT,NM_003614.1:p.Ala198Ala/c.594T>C,gcT/gcC,LOW,COSM4156244(3),0.783746,0.8591,rs8138029,,,,,,chr22,38220964,38220964,T,C,het,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala198Ala/c.594T>C|368|GALR3|protein_coding|CODING|NM_003614.1|2|1),"NHEK:CTCF,H1ESC:H3K36me3,HUVEC:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HUVEC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,H1ESC:CTCF",,,,0.7117,0.6643,0.6362,0.77,0.92,0.70,,,,,,,,,,,,,,,,
synonymous_variant,EIF3L,SILENT,NM_016091.3:p.Ile382Ile/c.1146T>C,atT/atC,LOW,,0.402955,0.1815,rs9466,,,,,,chr22,38273749,38273749,T,C,het,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile334Ile/c.1002T>C|516|EIF3L|protein_coding|CODING|NM_001242923.1|9|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile382Ile/c.1146T>C|564|EIF3L|protein_coding|CODING|NM_016091.3|11|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4162,0.4294,0.4215,0.46,0.51,0.43,,,,,,,,,,,,,,,,
synonymous_variant,C22orf23,SILENT,NM_032561.4:p.Thr132Thr/c.396A>G,acA/acG,LOW,COSM3759185(2),0.78135,0.8353,rs139859,,,,,,chr22,38341134,38341134,T,C,het,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr111Thr/c.333A>G|196|C22orf23|protein_coding|CODING|NM_001207062.1|4|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr132Thr/c.396A>G|217|C22orf23|protein_coding|CODING|NM_032561.4|5|1)","HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.6861,0.67,0.6531,0.75,0.93,0.66,,,,,,,,,,,,,,,,
synonymous_variant,SOX10,SILENT,NM_006941.3:p.His309His/c.927T>C,caT/caC,LOW,COSM4156245(1),0.713259,0.748,rs139884,,,,,,chr22,38369976,38369976,A,G,het,"synonymous_variant(LOW|SILENT|caT/caC|p.His309His/c.927T>C|466|SOX10|protein_coding|CODING|NM_006941.3|4|1),intron_variant(MODIFIER|||c.293+6799A>G|158|POLR2F|protein_coding|CODING|NM_001301130.1|4|1),intron_variant(MODIFIER|||c.293+6799A>G|105|POLR2F|protein_coding|CODING|NM_001301131.1|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.6499,0.6372,0.70,0.82,0.63,,,,,,,,,,,,,,,,
missense_variant,SLC16A8,MISSENSE,NM_013356.2:p.Val405Ala/c.1214T>C,gTg/gCg,MODERATE,COSM3759186(1),0.810703,0.9058,rs2076371,1(T),0.001(B),-0.865(N),-0.9469(T),,chr22,38474696,38474696,A,G,hom,missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val405Ala/c.1214T>C|504|SLC16A8|protein_coding|CODING|NM_013356.2|5|1),"H1ESC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.6319,0.7176,0.7386,0.80,0.94,0.72,,0.027139(N),1.000(P),0.98(T),0.0000(T),0.03,-0.883118,4.9,3.88,-0.279000,0.608000,2.016000,0.001000,0.127000,0.415000,9.66
missense_variant,SLC16A8,MISSENSE,NM_013356.2:p.Arg235Trp/c.703A>T,Agg/Tgg,MODERATE,COSM3749767(11),0.436102,0.4841,rs4289289,0.02(D),0.295(B),0.805(L),-1.0314(T),,chr22,38477342,38477342,T,A,het,missense_variant(MODERATE|MISSENSE|Agg/Tgg|p.Arg235Trp/c.703A>T|504|SLC16A8|protein_coding|CODING|NM_013356.2|4|1),"H1ESC:H3K36me3,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3425,0.4524,0.497,0.44,0.40,0.46,,0.238018(U),1.000(P),-1.44(T),0.0000(T),0.049,1.627132,3.34,-0.0221,0.260000,0.190000,0.490000,0.005000,0.001000,0.039000,5.3072
synonymous_variant,SLC16A8,SILENT,NM_013356.2:p.Leu108Leu/c.324C>T,ctC/ctT,LOW,COSM444984(2),0.435304,0.4831,rs2235573,,,,,,chr22,38477930,38477930,G,A,het,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu108Leu/c.324C>T|504|SLC16A8|protein_coding|CODING|NM_013356.2|3|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3425,0.4524,0.493,0.46,0.42,0.48,,,,,,,,,,,,,,,,
missense_variant,BAIAP2L2,MISSENSE,NM_025045.5:p.Cys252Arg/c.754T>C,Tgc/Cgc,MODERATE,COSM4156251(3),0.390775,0.4058,rs17856487,0.48(T),0.0(B),-0.345(N),-0.8956(T),,chr22,38485540,38485540,A,G,het,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys252Arg/c.754T>C|529|BAIAP2L2|protein_coding|CODING|NM_025045.5|8|1),"HUVEC:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.5409,0.4625,0.4076,,,,,0.981996(N),0.000(P),,0.0000(T),0.362,0.274329,3.4,2.34,-0.642000,0.096000,2.509000,0.665000,0.999000,1.000000,8.0025
synonymous_variant,BAIAP2L2,SILENT,NM_025045.5:p.Phe8Phe/c.24T>C,ttT/ttC,LOW,COSM3759189(1),1,1,rs4820313,,,,,,chr22,38506509,38506509,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe8Phe/c.24T>C|529|BAIAP2L2|protein_coding|CODING|NM_025045.5|1|1),downstream_gene_variant(MODIFIER||993||752|PLA2G6|protein_coding|CODING|NM_001004426.1||1),downstream_gene_variant(MODIFIER||993||752|PLA2G6|protein_coding|CODING|NM_001199562.1||1),downstream_gene_variant(MODIFIER||993||806|PLA2G6|protein_coding|CODING|NM_003560.2||1)","HepG2:H3K4me2,HepG2:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:DNase1,NHEK:DNase1",,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,KCNJ4,SILENT,NM_004981.1:p.Ser334Ser/c.1002A>G,tcA/tcG,LOW,COSM3759192(2),0.809505,0.9444,rs196059,,,,,,chr22,38823136,38823136,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser334Ser/c.1002A>G|445|KCNJ4|protein_coding|CODING|NM_004981.1|2|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser334Ser/c.1002A>G|445|KCNJ4|protein_coding|CODING|NM_152868.2|2|1)",H1ESC:H3K36me3,,,,0.8926,0.6758,0.6004,0.69,0.84,0.62,,,,,,,,,,,,,,,,
missense_variant,APOBEC3B,MISSENSE,NM_004900.4:p.Lys62Glu/c.184A>G,Aag/Gag,MODERATE,COSM3759193(2),0.641174,0.628,rs2076109,0.46(T),"0.009,0.007(B,B)",0.78(N),-0.9029(T),,chr22,39381826,39381826,A,G,hom,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys62Glu/c.184A>G|357|APOBEC3B|protein_coding|CODING|NM_001270411.1|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys62Glu/c.184A>G|382|APOBEC3B|protein_coding|CODING|NM_004900.4|3|1),intron_variant(MODIFIER|||c.586-6610A>G|199|APOBEC3A_B|protein_coding|CODING|NM_001193289.1|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:H3K4me1,CD4:H2BK120ac,GM06990:H3K36me3",,,,0.7342,0.5259,0.5974,0.61,0.69,0.56,,,1.000(P),"-0.14,-0.14,-0.14(T,T,T)",0.0000(T),0.065,0.238307,0.575,-1.15,-2.942000,-2.941000,-1.983000,0.001000,0.000000,0.000000,.
missense_variant,APOBEC3B,MISSENSE,NM_004900.4:p.Pro98Leu/c.293C>T,cCg/cTg,MODERATE,COSM1416297(2),0.0754792,0.0079,rs2076110,0.41(T),"0.059,0.107(B,B)",1.935(M),-1.0971(T),,chr22,39381935,39381935,C,T,het,"missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro98Leu/c.293C>T|357|APOBEC3B|protein_coding|CODING|NM_001270411.1|3|1),missense_variant(MODERATE|MISSENSE|cCg/cTg|p.Pro98Leu/c.293C>T|382|APOBEC3B|protein_coding|CODING|NM_004900.4|3|1),intron_variant(MODIFIER|||c.586-6501C>T|199|APOBEC3A_B|protein_coding|CODING|NM_001193289.1|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:H3K4me1,GM06990:H3K36me3",,,,0.0654,0.0274,0.0596,0.10,0.17,0.06,,,1.000(P),"-0.04,-0.04,-0.04(T,T,T)",0.0005(T),0.112,0.192766,2.12,-4.23,0.184000,-1.760000,-3.926000,0.121000,0.000000,0.000000,1.3839
synonymous_variant,APOBEC3B,SILENT,NM_004900.4:p.Ser119Ser/c.357T>C,tcT/tcC,LOW,COSM4156275(1),,,rs2076111,,,,,,chr22,39381999,39381999,T,C,hom,"synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser119Ser/c.357T>C|357|APOBEC3B|protein_coding|CODING|NM_001270411.1|3|1),synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser119Ser/c.357T>C|382|APOBEC3B|protein_coding|CODING|NM_004900.4|3|1),intron_variant(MODIFIER|||c.586-6437T>C|199|APOBEC3A_B|protein_coding|CODING|NM_001193289.1|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:H3K4me1,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,APOBEC3B,MISSENSE,NM_004900.4:p.Thr146Lys/c.437C>A,aCg/aAg,MODERATE,,0.949681,0.9792,rs5995649,1(T),"0.0,0.004(B,B)",-1.42(N),-0.9950(T),,chr22,39382079,39382079,C,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr146Lys/c.437C>A|357|APOBEC3B|protein_coding|CODING|NM_001270411.1|3|1),missense_variant(MODERATE|MISSENSE|aCg/aAg|p.Thr146Lys/c.437C>A|382|APOBEC3B|protein_coding|CODING|NM_004900.4|3|1),intron_variant(MODIFIER|||c.586-6357C>A|199|APOBEC3A_B|protein_coding|CODING|NM_001193289.1|4|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:H3K4me1,GM06990:H3K36me3",,,,0.9039,0.9597,0.9592,0.95,0.94,0.96,,,1.000(P),"-0.02,-0.02,-0.02(T,T,T)",0.0000(T),0.142,-2.102502,2.12,-4.25,-1.227000,-1.743000,-0.841000,0.016000,0.000000,0.000000,8.8942
synonymous_variant,APOBEC3B,SILENT,NM_004900.4:p.Tyr315Tyr/c.945C>T,taC/taT,LOW,COSM3759194(1),,,rs1065184,,,,,,chr22,39387558,39387558,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr315Tyr/c.945C>T|382|APOBEC3B|protein_coding|CODING|NM_004900.4|6|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr290Tyr/c.870C>T|357|APOBEC3B|protein_coding|CODING|NM_001270411.1|6|1),downstream_gene_variant(MODIFIER||6|||APOBEC3B-AS1||NON_CODING|NR_104187.1||1),intron_variant(MODIFIER|||c.586-878C>T|199|APOBEC3A_B|protein_coding|CODING|NM_001193289.1|4|1)","H1ESC:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,,,,0.48,0.54,0.46,,,,,,,,,,,,,,,,
missense_variant,APOBEC3F,MISSENSE,NM_001006666.1:p.Ala78Val/c.233C>T,gCc/gTc,MODERATE,,0.5,0.7093,rs5750728,0.1(T),0.006(B),,-1.0261(T),,chr22,39440149,39440149,C,T,het,"missense_variant(MODERATE|MISSENSE|gCc/gTc|p.Ala78Val/c.233C>T|101|APOBEC3F|protein_coding|CODING|NM_001006666.1|3|1),intron_variant(MODIFIER|||c.172-797C>T|373|APOBEC3F|protein_coding|CODING|NM_145298.5|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6084,0.6239,0.4911,0.44,0.26,0.53,,,1.000(P),2.28(T),0.0000(T),0.039,0.437123,0.235,0.235,0.313000,0.308000,-0.356000,0.034000,0.033000,0.001000,.
missense_variant,APOBEC3F,MISSENSE,NM_145298.5:p.Ala108Ser/c.322G>T,Gct/Tct,MODERATE,COSM4156278(1),0.533746,0.7133,rs2020390,0.17(T),0.252(B),1.045(L),-0.9813(T),,chr22,39441096,39441096,G,T,het,"missense_variant(MODERATE|MISSENSE|Gct/Tct|p.Ala108Ser/c.322G>T|373|APOBEC3F|protein_coding|CODING|NM_145298.5|3|1),downstream_gene_variant(MODIFIER||668||101|APOBEC3F|protein_coding|CODING|NM_001006666.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6043,0.634,0.492,,,,,,1.000(P),0.0(T),0.0000(T),0.064,1.560780,2.27,-4.53,-0.755000,-1.170000,-1.834000,0.002000,0.000000,0.000000,4.6832
synonymous_variant,APOBEC3F,SILENT,NM_145298.5:p.Arg143Arg/c.429C>T,cgC/cgT,LOW,,0.59345,0.7123,rs4821862,,,,,,chr22,39441203,39441203,C,T,het,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg143Arg/c.429C>T|373|APOBEC3F|protein_coding|CODING|NM_145298.5|3|1),downstream_gene_variant(MODIFIER||775||101|APOBEC3F|protein_coding|CODING|NM_001006666.1||1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6053,0.6427,0.492,0.54,0.54,0.53,,,,,,,,,,,,,,,,
missense_variant,APOBEC3F,MISSENSE,NM_145298.5:p.Val231Ile/c.691G>A,Gtc/Atc,MODERATE,,0.495407,0.7113,rs2076101,0.18(T),0.81(P),1.765(L),-0.9359(T),,chr22,39445554,39445554,G,A,het,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val231Ile/c.691G>A|373|APOBEC3F|protein_coding|CODING|NM_145298.5|5|1),,,,,0.6084,0.6182,0.4901,0.43,0.25,0.53,,,1.000(P),-0.19(T),0.0000(T),0.024,1.630907,1.53,0.462,0.505000,0.212000,0.354000,0.012000,0.002000,0.002000,3.9175
synonymous_variant,APOBEC3G,SILENT,NM_021822.3:p.Phe119Phe/c.357T>C,ttT/ttC,LOW,COSM3759195(2),0.284545,0.2242,rs5757465,,,,,,chr22,39477123,39477123,T,C,het,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe119Phe/c.357T>C|384|APOBEC3G|protein_coding|CODING|NM_021822.3|3|1),"CD4:H4K91ac,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.4448,0.3977,0.4473,0.32,0.09,0.43,,,,,,,,,,,,,,,,
missense_variant,APOBEC3H,MISSENSE,NM_001166003.2:p.Arg18Leu/c.53G>T,cGc/cTc,MODERATE,COSM3759196(1),0.201677,0.1587,rs139293,0.59(T),0.925(D),1.975(M),-1.0168(T),,chr22,39496336,39496336,G,T,het,"missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg18Leu/c.53G>T|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|2|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg18Leu/c.53G>T|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|2|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg18Leu/c.53G>T|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|2|1),missense_variant(MODERATE|MISSENSE|cGc/cTc|p.Arg18Leu/c.53G>T|183|APOBEC3H|protein_coding|CODING|NM_181773.4|2|1)","CD4:DNase1,GM12878:H3K27ac,GM12878:EBF,IMR90:H3K27me3,GM12878:DNase1,GM06990:DNase1",,,,0.3057,0.2421,0.2932,0.21,0.08,0.27,,,1.000(P),"0.04,0.04,-0.05,0.01(T,T,T,T)",0.0000(T),0.173,2.022317,3.01,-0.212,-0.481000,0.030000,-0.120000,0.000000,0.000000,0.000000,5.1589
synonymous_variant,APOBEC3H,SILENT,NM_001166003.2:p.Thr43Thr/c.129G>C,acG/acC,LOW,COSM3759197(1),0.514776,0.3333,rs139294,,,,,,chr22,39496412,39496412,G,C,het,"synonymous_variant(LOW|SILENT|acG/acC|p.Thr43Thr/c.129G>C|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|2|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr43Thr/c.129G>C|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|2|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr43Thr/c.129G>C|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|2|1),synonymous_variant(LOW|SILENT|acG/acC|p.Thr43Thr/c.129G>C|183|APOBEC3H|protein_coding|CODING|NM_181773.4|2|1)","CD4:DNase1,GM12878:H3K27ac,GM12878:EBF,IMR90:H3K27me3,GM12878:DNase1,GM06990:DNase1",,,,0.4387,0.3775,0.4543,0.56,0.76,0.46,,,,,,,,,,,,,,,,
missense_variant,APOBEC3H,MISSENSE,NM_001166003.2:p.Gly105Arg/c.313G>C,Ggc/Cgc,MODERATE,COSM3759198(6),0.52476,0.3155,rs139297,1(T),0.001(B),-2.605(N),-0.9676(T),,chr22,39497404,39497404,G,C,het,"missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly105Arg/c.313G>C|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly105Arg/c.313G>C|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly105Arg/c.313G>C|183|APOBEC3H|protein_coding|CODING|NM_181773.4|3|1),missense_variant(MODERATE|MISSENSE|Ggc/Cgc|p.Gly105Arg/c.313G>C|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|3|1)",IMR90:H3K27me3,,,,0.4294,0.3833,0.4642,0.58,0.81,0.46,,,1.000(P),"0.03,0.03,0.03,0.03(T,T,T,T)",0.0000(T),0.081,-1.398362,3.33,-4.63,-0.365000,-1.275000,-1.028000,0.040000,0.001000,0.000000,7.6083
missense_variant,APOBEC3H,MISSENSE,NM_001166003.2:p.Lys121Glu/c.361A>G,Aag/Gag,MODERATE,COSM3759199(4),0.529752,0.3155,rs139298,1(T),0.003(B),-0.58(N),-1.0326(T),,chr22,39497452,39497452,A,G,het,"missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys121Glu/c.361A>G|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys121Glu/c.361A>G|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys121Glu/c.361A>G|183|APOBEC3H|protein_coding|CODING|NM_181773.4|3|1),missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys121Glu/c.361A>G|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|3|1)",IMR90:H3K27me3,,,,0.4387,0.3876,0.4771,0.58,0.81,0.46,,,1.000(P),"0.12,0.12,0.12,0.12(T,T,T,T)",0.0000(T),0.017,-1.720768,3.33,-6.67,-1.473000,-3.352000,-1.684000,0.003000,0.000000,0.000000,8.7069
missense_variant,APOBEC3H,MISSENSE,NM_001166003.2:p.Lys121Asn/c.363G>C,aaG/aaC,MODERATE,COSM3759200(4),0.529752,0.3155,rs139299,0.01(D),0.231(B),1.845(L),-1.0344(T),,chr22,39497454,39497454,G,C,het,"missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys121Asn/c.363G>C|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|3|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys121Asn/c.363G>C|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|3|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys121Asn/c.363G>C|183|APOBEC3H|protein_coding|CODING|NM_181773.4|3|1),missense_variant(MODERATE|MISSENSE|aaG/aaC|p.Lys121Asn/c.363G>C|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|3|1)",IMR90:H3K27me3,,,,0.4387,0.3876,0.4771,0.58,0.81,0.46,,,1.000(P),"-0.22,-0.22,-0.22,-0.22(T,T,T,T)",0.0000(T),0.036,1.698131,3.33,1.26,0.460000,0.441000,1.033000,0.010000,0.436000,0.860000,5.5224
splice_donor_variant,APOBEC3H,protein_coding,NM_001166004.2:c.417A>G,,HIGH,COSM4156279(1),1,1,rs139300,1(T),,-2.625(N),-0.9439(T),APOBEC3H:0.25(4);,chr22,39497509,39497509,A,G,hom,"splice_donor_variant(HIGH|||c.417A>G|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|3|1),splice_region_variant(LOW|||c.416A>G|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|3|1),splice_region_variant(LOW|||c.416A>G|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|3|1),splice_region_variant(LOW|||c.416A>G|183|APOBEC3H|protein_coding|CODING|NM_181773.4|3|1),intron_variant(MODIFIER|||c.415+3A>G|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|3|1),intron_variant(MODIFIER|||c.415+3A>G|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|3|1),intron_variant(MODIFIER|||c.415+3A>G|183|APOBEC3H|protein_coding|CODING|NM_181773.4|3|1),intron_variant(MODIFIER|||c.416+2A>G|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|3|1)",IMR90:H3K27me3,,,,1,1,1,,,,,,1.000(P),"-0.01,-0.01,-0.01(T,T,T)",0.0000(T),0.122,-1.195025,3.33,2.28,-0.368000,0.408000,0.458000,0.003000,0.222000,0.110000,4.721
missense_variant,APOBEC3H,MISSENSE,NM_001166003.2:p.Glu178Asp/c.534G>C,gaG/gaC,MODERATE,COSM3759201(1),0.515575,0.3313,rs139302,0.28(T),0.016(B),0.6(N),-1.0124(T),,chr22,39498038,39498038,G,C,het,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu178Asp/c.534G>C|182|APOBEC3H|protein_coding|CODING|NM_001166002.2|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu178Asp/c.534G>C|200|APOBEC3H|protein_coding|CODING|NM_001166003.2|4|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu178Asp/c.534G>C|183|APOBEC3H|protein_coding|CODING|NM_181773.4|4|1),intron_variant(MODIFIER|||c.417-477G>C|154|APOBEC3H|protein_coding|CODING|NM_001166004.2|3|1)",IMR90:H3K27me3,,,,0.4315,0.3458,0.4632,0.57,0.79,0.46,,,1.000(P),"-0.08,-0.08,-0.1(T,T,T)",0.0000(T),0.065,-0.370687,3.06,-6.12,-2.185000,-2.277000,-1.286000,0.007000,0.000000,0.000000,1.9922
synonymous_variant,RPL3,SILENT,NM_000967.3:p.Pro37Pro/c.111G>A,ccG/ccA,LOW,COSM3759202(2),0.29972,0.119,rs6509,,,,-0.9440(T),,chr22,39714490,39714490,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro37Pro/c.111G>A|403|RPL3|protein_coding|CODING|NM_000967.3|2|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro37Pro/c.111G>A|354|RPL3|protein_coding|CODING|NM_001033853.1|2|1),upstream_gene_variant(MODIFIER||1589|||RNU86||NON_CODING|NR_000026.1||1),downstream_gene_variant(MODIFIER||567|||SNORD43||NON_CODING|NR_002439.1||1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,K562:PolII,H1ESC:H3K9ac,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,GM12878:H3K27ac,HeLa-S3:H3K9ac,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:DNase1,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K4me3",,,,0.3579,0.4121,0.493,0.40,0.22,0.50,,,0.000(P),,0.0000(T),.,-0.168576,4.5,-5.55,-0.493000,-1.649000,0.413000,0.148000,0.000000,0.997000,4.7003
missense_variant,ATF4,MISSENSE,NM_001675.4:p.Gln22Pro/c.65A>C,cAg/cCg,MODERATE,COSM3759203(1),0.273762,0.2024,rs4894,0(D),0.002(B),1.4(L),-1.0328(T),,chr22,39917515,39917515,A,C,het,"missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln22Pro/c.65A>C|351|ATF4|protein_coding|CODING|NM_001675.4|1|1),missense_variant(MODERATE|MISSENSE|cAg/cCg|p.Gln22Pro/c.65A>C|351|ATF4|protein_coding|CODING|NM_182810.2|2|1)","H1ESC:PolII,NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,H1ESC:H3K9ac,K562:PolII,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NHEK:PolII,GM12878:H3K27ac,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K36me3,HSMM:H3K4me2,IMR90:H3K56ac,H1ESC:H3K4me2,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HepG2:H3K27ac,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,IMR90:H4K20me1,CD4:H3K4me3,HMEC:H3K27ac,CD4:H4K20me1,HepG2:PolII,HMEC:H3K4me2,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,NH-A:H3K27ac,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,IMR90:H3K27ac,K562:H4K20me1,K562:H3K9ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HepG2:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HepG2:H3K27me3,K562:HEY1,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,NHEK:DNase1,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K79me2,IMR90:H3K4me3",,,,0.3436,0.2507,0.3171,0.30,0.27,0.32,,0.000003(N),0.000(P),"0.64,0.64,0.64(T,T,T)",0.0000(T),0.212,1.867018,4.37,3.29,0.459000,0.504000,1.075000,0.998000,1.000000,1.000000,10.646
synonymous_variant,CACNA1I,SILENT,NM_021096.3:p.Ser33Ser/c.99C>T,tcC/tcT,LOW,,0.328874,0.7272,rs3747178,,,,,,chr22,39966856,39966856,C,T,het,"synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser33Ser/c.99C>T|2188|CACNA1I|protein_coding|CODING|NM_001003406.1|1|1),synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser33Ser/c.99C>T|2223|CACNA1I|protein_coding|CODING|NM_021096.3|1|1)","NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.274,0.33,0.3429,0.23,0.09,0.30,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1I,SILENT,NM_021096.3:p.Ile719Ile/c.2157T>C,atT/atC,LOW,COSM1130430(2),0.748403,0.994,rs5757761,,,,,,chr22,40054948,40054948,T,C,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile684Ile/c.2052T>C|2188|CACNA1I|protein_coding|CODING|NM_001003406.1|11|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile719Ile/c.2157T>C|2223|CACNA1I|protein_coding|CODING|NM_021096.3|12|1)","CD4:H3K18ac,GM06990:H3K27me3,HUVEC:H3K27me3,CD4:H2BK5ac,CD4:H4K91ac,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,CD4:H3K4ac,IMR90:H3K27me3,CD4:H2BK120ac,HepG2:H3K27me3",,,,0.5849,0.7392,0.5567,0.63,0.79,0.54,,,,,,,,,,,,,,,,
synonymous_variant,CACNA1I,SILENT,NM_021096.3:p.Ser953Ser/c.2859T>C,agT/agC,LOW,COSM3759207(2),0.736821,0.994,rs136852,,,,,,chr22,40057273,40057273,T,C,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser918Ser/c.2754T>C|2188|CACNA1I|protein_coding|CODING|NM_001003406.1|15|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser953Ser/c.2859T>C|2223|CACNA1I|protein_coding|CODING|NM_021096.3|16|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,CD4:H4K91ac,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5869,0.7363,0.5527,0.61,0.76,0.53,,,,,,,,,,,,,,,,
missense_variant,CACNA1I,MISSENSE,NM_021096.3:p.Ile1040Val/c.3118A>G,Att/Gtt,MODERATE,COSM3759214(2),0.736821,0.994,rs136853,0.29(T),"0.0,0.0,0.0,0.0(B,B,B,B)",0(N),-0.9027(T),,chr22,40058186,40058186,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1005Val/c.3013A>G|2188|CACNA1I|protein_coding|CODING|NM_001003406.1|16|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1040Val/c.3118A>G|2223|CACNA1I|protein_coding|CODING|NM_021096.3|17|1)","K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5849,0.7349,0.5537,0.64,0.78,0.57,,0.000864(N),1.000(P),"-4.0,-3.98,-4.02,-3.98,-4.03,-3.95(D,D,D,D,D,D)",0.0000(T),0.03,-0.195909,4.3,-2.66,-0.355000,-0.448000,-0.093000,0.006000,0.000000,0.000000,8.2458
missense_variant,CACNA1I,MISSENSE,NM_021096.3:p.Gly1782Arg/c.5344G>A,Ggg/Agg,MODERATE,COSM4156313(2),0.107428,0.0327,rs2294369,0.55(T),"0.001,0.003,0.001,0.001(B,B,B,B)",0(N),-0.9149(T),,chr22,40075400,40075400,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly1747Arg/c.5239G>A|2188|CACNA1I|protein_coding|CODING|NM_001003406.1|31|1),missense_variant(MODERATE|MISSENSE|Ggg/Agg|p.Gly1782Arg/c.5344G>A|2223|CACNA1I|protein_coding|CODING|NM_021096.3|32|1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0818,0.2061,0.2425,,,,,,1.000(P),"-4.09,-4.06,-4.09,-4.05,-4.11,-4.02(D,D,D,D,D,D)",0.0005(T),0.261,1.208212,4.78,-1.61,-1.244000,-0.129000,2.654000,0.000000,0.000000,0.998000,1.627
missense_variant,MCHR1,MISSENSE,NM_005297.3:p.Asn32Asp/c.94A>G,Aac/Gac,MODERATE,COSM4156322(2),0.667732,0.9802,rs133072,1(T),0.0(B),0(N),-0.9393(T),,chr22,41075543,41075543,A,G,hom,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn32Asp/c.94A>G|422|MCHR1|protein_coding|CODING|NM_005297.3|1|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,K562:Egr1,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.4826,0.4207,0.6352,0.65,0.69,0.64,,0.012529(N),1.000(P),"0.02,0.56(T,T)",0.0000(T),0.111,-0.386845,4.54,2.02,-0.320000,0.487000,2.486000,0.538000,0.778000,0.925000,5.5049
synonymous_variant,MCHR1,SILENT,NM_005297.3:p.Asn82Asn/c.246C>T,aaC/aaT,LOW,,0.617612,0.9792,rs133073,,,,,,chr22,41075695,41075695,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn82Asn/c.246C>T|422|MCHR1|protein_coding|CODING|NM_005297.3|1|1),"HepG2:H3K4me2,GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,NH-A:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,K562:Egr1,HepG2:H3K4me3,HepG2:H3K27me3",,,,0.4693,0.3991,0.6054,0.60,0.58,0.61,,,,,,,,,,,,,,,,
synonymous_variant,EP300,SILENT,NM_001429.3:p.Thr1061Thr/c.3183T>A,acT/acA,LOW,,0.673922,0.8175,rs20552,,,,,,chr22,41551039,41551039,T,A,het,synonymous_variant(LOW|SILENT|acT/acA|p.Thr1061Thr/c.3183T>A|2414|EP300|protein_coding|CODING|NM_001429.3|17|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079675.1,,0.7209,0.7695,0.6352,0.58,0.51,0.62,,,,,,,,,,,,,,,,
synonymous_variant,L3MBTL2,SILENT,NM_031488.4:p.Arg130Arg/c.390G>A,agG/agA,LOW,,0.364018,0.1885,rs139451,,,,,,chr22,41610024,41610024,G,A,het,synonymous_variant(LOW|SILENT|agG/agA|p.Arg130Arg/c.390G>A|705|L3MBTL2|protein_coding|CODING|NM_031488.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2802,0.3357,0.3638,0.44,0.56,0.38,,,,,,,,,,,,,,,,
synonymous_variant,TOB2,SILENT,NM_016272.3:p.Ala78Ala/c.234G>A,gcG/gcA,LOW,COSM3759220(1),0.71266,0.9435,rs202641,,,,,,chr22,41833116,41833116,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala78Ala/c.234G>A|344|TOB2|protein_coding|CODING|NM_016272.3|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.6135,0.5202,0.7773,0.75,0.67,0.79,,,,,,,,,,,,,,,,
synonymous_variant,ACO2,SILENT,NM_001098.2:p.Leu224Leu/c.670C>T,Ctg/Ttg,LOW,COSM4002194(2),0.270367,0.1994,rs1799932,,,,,,chr22,41911525,41911525,C,T,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu224Leu/c.670C>T|780|ACO2|protein_coding|CODING|NM_001098.2|5|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000116217.2|RCV000123482.1,,0.3354,0.2767,0.4722,0.38,0.16,0.50,,,,,,,,,,,,,,,,
synonymous_variant,XRCC6,SILENT,NM_001288976.1:p.Gly593Gly/c.1779G>T,ggG/ggT,LOW,COSM3759221(2),0.209065,0.2331,rs132788,,,,,,chr22,42059768,42059768,G,T,hom,"synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly593Gly/c.1779G>T|609|XRCC6|protein_coding|CODING|NM_001288976.1|13|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly552Gly/c.1656G>T|568|XRCC6|protein_coding|CODING|NM_001288977.1|13|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly543Gly/c.1629G>T|559|XRCC6|protein_coding|CODING|NM_001288978.1|12|1),synonymous_variant(LOW|SILENT|ggG/ggT|p.Gly593Gly/c.1779G>T|609|XRCC6|protein_coding|CODING|NM_001469.4|13|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2628,0.2089,0.3628,0.27,0.09,0.36,,,,,,,,,,,,,,,,
missense_variant,C22orf46,MISSENSE,NM_001142964.1:p.Trp125Arg/c.373T>C,Tgg/Cgg,MODERATE,COSM3759222(1),0.795727,0.9087,rs739134,0.13(T),0.005(B),0.55(N),-1.0556(T),,chr22,42089623,42089623,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp125Arg/c.373T>C|243|C22orf46|protein_coding|CODING|NM_001142964.1|2|1),"GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7178,0.5115,0.7932,0.83,0.90,0.80,,,1.000(P),,0.0000(T),0.129,1.907797,3.84,0.288,0.379000,-0.111000,-0.022000,0.286000,0.004000,0.064000,1.0199
synonymous_variant,MEI1,SILENT,NM_152513.3:p.Ser724Ser/c.2172G>T,tcG/tcT,LOW,COSM3759224(1),0.841254,0.9355,rs2050033,,,,,,chr22,42159229,42159229,G,T,hom,synonymous_variant(LOW|SILENT|tcG/tcT|p.Ser724Ser/c.2172G>T|1274|MEI1|protein_coding|CODING|NM_152513.3|19|1),"NHEK:CTCF,HUVEC:H3K27me3,K562:CTCF,HUVEC:CTCF,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HMEC:CTCF,CD4:CTCF,HepG2:CTCF,GM12878:Rad21,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,H1ESC:Rad21,H1ESC:CTCF,GM06990:CTCF",,,,0.7751,0.5893,0.8032,0.86,0.95,0.81,,,,,,,,,,,,,,,,
synonymous_variant,SREBF2,SILENT,NM_004599.3:p.Leu556Leu/c.1668G>T,ctG/ctT,LOW,,0.0217652,0,rs9623465,,,,,,chr22,42274034,42274034,G,T,het,"synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu556Leu/c.1668G>T|1141|SREBF2|protein_coding|CODING|NM_004599.3|9|1),non_coding_exon_variant(MODIFIER|||n.1860G>T||SREBF2||CODING|NR_103834.1|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0102,0.036,0.0686,0.04,0.01,0.06,,,,,,,,,,,,,,,,
missense_variant,WBP2NL,MISSENSE,NM_152613.2:p.Asp121Gly/c.362A>G,gAt/gGt,MODERATE,COSM3759226(1),0.546126,0.8641,rs133335,1(T),0.0(B),-2.505(N),-1.0003(T),,chr22,42416056,42416056,A,G,hom,missense_variant(MODERATE|MISSENSE|gAt/gGt|p.Asp121Gly/c.362A>G|309|WBP2NL|protein_coding|CODING|NM_152613.2|4|1),"HUVEC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.5204,0.3631,0.4791,0.47,0.48,0.46,,0.000295(N),0.998(P),"3.93,3.93(T,T)",0.0000(T),0.203,-0.769100,5.23,5.23,-0.119000,1.454000,5.333000,0.086000,1.000000,1.000000,13.0995
missense_variant,WBP2NL,MISSENSE,NM_152613.2:p.Gln285His/c.855G>C,caG/caC,MODERATE,,0.777756,0.8542,rs2301521,0.61(T),0.0(B),-0.55(N),-1.0485(T),,chr22,42423110,42423110,G,C,hom,missense_variant(MODERATE|MISSENSE|caG/caC|p.Gln285His/c.855G>C|309|WBP2NL|protein_coding|CODING|NM_152613.2|6|1),"HUVEC:H3K27me3,GM12878:H3K36me3,K562:H3K27me3",,,,0.6339,0.7046,0.671,0.75,0.90,0.67,,,1.000(P),"2.22,1.94(T,T)",0.0000(T),0.056,-1.653181,3.89,-7.78,-4.874000,-4.641000,-3.008000,0.000000,0.000000,0.000000,0.3602
synonymous_variant,NAGA,SILENT,NM_000262.2:p.Pro93Pro/c.279G>A,ccG/ccA,LOW,COSM3759227(1),0.676917,0.8532,rs133369,,,,,,chr22,42463814,42463814,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro93Pro/c.279G>A|411|NAGA|protein_coding|CODING|NM_000262.2|3|1),"H1ESC:H3K36me3,HeLa-S3:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,HeLa-S3:PolII,HeLa-S3:Ap2alpha,HeLa-S3:H3K27ac,NHEK:H3K36me3,HeLa-S3:Ap2gamma,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6452,0.6772,0.668,0.64,0.60,0.67,,,,,,,,,,,,,,,,
synonymous_variant,FAM109B,SILENT,NM_001002034.2:p.Ala102Ala/c.306C>T,gcC/gcT,LOW,COSM3759228(3),0.327476,0.2917,rs133383,,,,,,chr22,42473603,42473603,C,T,hom,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala102Ala/c.306C>T|259|FAM109B|protein_coding|CODING|NM_001002034.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.4796,0.4971,0.4592,0.33,0.12,0.44,,,,,,,,,,,,,,,,
missense_variant,CYP2D6,MISSENSE,NM_000106.5:p.Thr486Ser/c.1457C>G,aCc/aGc,MODERATE,COSM1599976(2),0.401158,0.2956,,0.77(T),"0.023,0.023,0.023(B,B,B)",,-0.9893(T),,chr22,42522613,42522613,G,C,hom,"missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr486Ser/c.1457C>G|497|CYP2D6|protein_coding|CODING|NM_000106.5|9|1),missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr435Ser/c.1304C>G|446|CYP2D6|protein_coding|CODING|NM_001025161.2|8|1),downstream_gene_variant(MODIFIER||1259|||NDUFA6-AS1||NON_CODING|NR_034118.2||1),non_coding_exon_variant(MODIFIER|||n.1546C>G||LOC101929829||NON_CODING|NR_111920.1|9|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000018391.26,,0.4724,0.5245,0.4543,0.41,0.36,0.43,,0.567358(N),1.000(P),"-0.35,-0.35,5.1(T,T,T)",0.0000(T),0.109,-0.179188,4.85,-2.65,-0.315000,-0.465000,0.361000,0.004000,0.001000,0.080000,5.2556
missense_variant,CYP2D6,MISSENSE,NM_000106.5:p.Gly373Ser/c.1117G>A,Ggt/Agt,MODERATE,COSM3730229(1),,,rs150552908,0.14(T),"0.094,0.032,0.094(B,B,B)",0.865(L),-0.9870(T),,chr22,42523505,42523505,C,T,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly373Ser/c.1117G>A|497|CYP2D6|protein_coding|CODING|NM_000106.5|7|1),missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly322Ser/c.964G>A|446|CYP2D6|protein_coding|CODING|NM_001025161.2|6|1),non_coding_exon_variant(MODIFIER|||n.1206G>A||LOC101929829||NON_CODING|NR_111920.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.006427(N),1.000(N),"-0.29,-0.29,-0.29(T,T,T)",0.0708(T),0.305,1.753313,4.93,2.84,0.555000,0.495000,-0.231000,0.965000,0.001000,0.000000,8.1034
missense_variant,CYP2D6,MISSENSE,NM_000106.5:p.Val370Ile/c.1108G>A,Gtc/Atc,MODERATE,,,,rs61745683,0.57(T),"0.002,0.013,0.002(B,B,B)",1.175(L),-0.9925(T),,chr22,42523514,42523514,C,T,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val370Ile/c.1108G>A|497|CYP2D6|protein_coding|CODING|NM_000106.5|7|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val319Ile/c.955G>A|446|CYP2D6|protein_coding|CODING|NM_001025161.2|6|1),non_coding_exon_variant(MODIFIER|||n.1197G>A||LOC101929829||NON_CODING|NR_111920.1|7|1)","H1ESC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.662437(N),1.000(N),"-0.57,-0.57,-0.57(T,T,T)",0.1639(T),0.184,0.510813,4.93,-6.63,-0.266000,-0.880000,-1.950000,0.946000,0.014000,0.000000,4.9748
missense_variant,CYP2D6,MISSENSE,NM_000106.5:p.Cys296Arg/c.886T>C,Tgc/Cgc,MODERATE,COSM1130423(2),0.640775,0.8601,,,"0.001,0.001(B,B)",,-0.9803(T),,chr22,42523943,42523943,A,G,hom,"missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys296Arg/c.886T>C|497|CYP2D6|protein_coding|CODING|NM_000106.5|6|1),missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys245Arg/c.733T>C|446|CYP2D6|protein_coding|CODING|NM_001025161.2|5|1),non_coding_exon_variant(MODIFIER|||n.975T>C||LOC101929829||NON_CODING|NR_111920.1|6|1)","H1ESC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000018391.26,,0.638,0.6729,0.6571,0.60,0.49,0.66,,0.605212(N),1.000(P),"-0.14,-0.14,-0.14(T,T,T)",0.0000(T),0.343,-0.851746,4.45,-0.156,-0.227000,-0.119000,-1.200000,0.041000,0.019000,0.000000,9.5064
synonymous_variant,CYP2D6,SILENT,NM_000106.5:p.Phe219Phe/c.657T>C,ttT/ttC,LOW,COSM1632628(8),,,,,,,,,chr22,42524795,42524795,A,G,het,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe219Phe/c.657T>C|497|CYP2D6|protein_coding|CODING|NM_000106.5|4|1),synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe168Phe/c.504T>C|446|CYP2D6|protein_coding|CODING|NM_001025161.2|3|1),non_coding_exon_variant(MODIFIER|||n.746T>C||LOC101929829||NON_CODING|NR_111920.1|4|1)","H1ESC:DNase1,NHEK:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,CYP2D6,SILENT,NM_000106.5:p.Val136Val/c.408C>G,gtC/gtG,LOW,COSM3759229(2),0.400958,0.2907,rs1058164,,,,,,chr22,42525132,42525132,G,C,hom,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val136Val/c.408C>G|497|CYP2D6|protein_coding|CODING|NM_000106.5|3|1),intron_variant(MODIFIER|||c.353-186C>G|446|CYP2D6|protein_coding|CODING|NM_001025161.2|2|1),non_coding_exon_variant(MODIFIER|||n.498C>G||LOC101929829||NON_CODING|NR_111920.1|3|1)",NHEK:H3K36me3,,,,0.4673,0.5274,0.4563,0.39,0.34,0.42,,,,,,,,,,,,,,,,
synonymous_variant,RRP7A,SILENT,NM_015703.4:p.Tyr159Tyr/c.477C>T,taC/taT,LOW,COSM1130418(1),0.0764776,0.004,rs4822146,,,,,,chr22,42910769,42910769,G,A,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr159Tyr/c.477C>T|280|RRP7A|protein_coding|CODING|NM_015703.4|5|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0327,0.1772,0.1461,0.12,0.08,0.14,,,,,,,,,,,,,,,,
missense_variant,RRP7A,MISSENSE,NM_015703.4:p.Val88Ile/c.262G>A,Gta/Ata,MODERATE,,0.0760783,0.003,rs11553441,0.12(T),0.373(B),2(M),-1.0038(T),,chr22,42912097,42912097,C,T,hom,missense_variant(MODERATE|MISSENSE|Gta/Ata|p.Val88Ile/c.262G>A|280|RRP7A|protein_coding|CODING|NM_015703.4|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0337,0.1772,0.1461,0.12,0.08,0.14,,0.000000(D),0.000(P),2.21(T),0.0001(T),0.133,1.211667,3.93,2.9,-0.346000,0.946000,3.845000,0.004000,0.050000,0.994000,12.1146
synonymous_variant,SERHL2,SILENT,NM_014509.4:p.Val296Val/c.888G>C,gtG/gtC,LOW,COSM1484278(2),,,rs147451679,,,,,,chr22,42970004,42970004,G,C,het,"synonymous_variant(LOW|SILENT|gtG/gtC|p.Val232Val/c.696G>C|250|SERHL2|protein_coding|CODING|NM_001284334.1|10|1),synonymous_variant(LOW|SILENT|gtG/gtC|p.Val296Val/c.888G>C|314|SERHL2|protein_coding|CODING|NM_014509.4|12|1),non_coding_exon_variant(MODIFIER|||n.1578C>G||RRP7B||NON_CODING|NR_002184.2|7|1),non_coding_exon_variant(MODIFIER|||n.1726G>C||SERHL2||CODING|NR_104300.1|11|1),non_coding_exon_variant(MODIFIER|||n.1710G>C||SERHL2||CODING|NR_104301.1|11|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,A4GALT,SILENT,NM_017436.4:p.Thr329Thr/c.987G>A,acG/acA,LOW,COSM3759232(1),0.349042,0.1319,rs9623659,,,,,,chr22,43088971,43088971,C,T,hom,synonymous_variant(LOW|SILENT|acG/acA|p.Thr329Thr/c.987G>A|353|A4GALT|protein_coding|CODING|NM_017436.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3364,0.3415,0.3817,0.40,0.47,0.37,,,,,,,,,,,,,,,,
synonymous_variant,A4GALT,SILENT,NM_017436.4:p.Pro301Pro/c.903C>G,ccC/ccG,LOW,COSM3720658(2),0.695288,0.7063,rs6002904,,,,,,chr22,43089055,43089055,G,C,hom,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro301Pro/c.903C>G|353|A4GALT|protein_coding|CODING|NM_017436.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6309,0.6052,0.5915,0.65,0.82,0.57,,,,,,,,,,,,,,,,
missense_variant,A4GALT,MISSENSE,NM_017436.4:p.Met37Val/c.109A>G,Atg/Gtg,MODERATE,COSM3759233(1),0.350639,0.1319,rs11541159,0.94(T),0.0(B),0(N),-1.0481(T),,chr22,43089849,43089849,T,C,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met37Val/c.109A>G|353|A4GALT|protein_coding|CODING|NM_017436.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.3364,0.3415,0.3827,0.40,0.47,0.37,,0.314222(U),1.000(P),"-1.33,-1.33,-1.33(T,T,T)",0.0000(T),0.048,1.205490,5.34,-4.6,0.459000,-1.433000,-1.483000,0.941000,0.016000,0.000000,3.7109
synonymous_variant,ARFGAP3,SILENT,NM_014570.4:p.Ser477Ser/c.1431T>C,agT/agC,LOW,COSM3759234(2),0.377396,0.0813,rs1128013,,,,,,chr22,43195147,43195147,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser433Ser/c.1299T>C|472|ARFGAP3|protein_coding|CODING|NM_001142293.1|14|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser477Ser/c.1431T>C|516|ARFGAP3|protein_coding|CODING|NM_014570.4|15|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4151,0.3847,0.4642,0.49,0.52,0.48,,,,,,,,,,,,,,,,
synonymous_variant,ARFGAP3,SILENT,NM_014570.4:p.Ser451Ser/c.1353G>A,tcG/tcA,LOW,COSM3759235(1),0.310104,0.0853,rs738535,,,,-0.9003(T),,chr22,43203137,43203137,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser407Ser/c.1221G>A|472|ARFGAP3|protein_coding|CODING|NM_001142293.1|13|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser451Ser/c.1353G>A|516|ARFGAP3|protein_coding|CODING|NM_014570.4|14|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4008,0.366,0.4364,0.42,0.35,0.45,,,0.000(P),,0.0000(T),.,-1.253780,4.94,-6.15,-0.923000,-0.428000,-0.630000,0.006000,0.015000,0.156000,1.6031
missense_variant,ARFGAP3,MISSENSE,NM_014570.4:p.Ser355Arg/c.1065T>G,agT/agG,MODERATE,,0.701877,0.6399,rs1018448,0.94(T),"0.002,0.001(B,B)",-1.01(N),-1.0023(T),,chr22,43206950,43206950,A,C,hom,"missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser311Arg/c.933T>G|472|ARFGAP3|protein_coding|CODING|NM_001142293.1|11|1),missense_variant(MODERATE|MISSENSE|agT/agG|p.Ser355Arg/c.1065T>G|516|ARFGAP3|protein_coding|CODING|NM_014570.4|12|1),splice_region_variant(LOW|||c.933T>G|472|ARFGAP3|protein_coding|CODING|NM_001142293.1|11|1),splice_region_variant(LOW|||c.1065T>G|516|ARFGAP3|protein_coding|CODING|NM_014570.4|12|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6094,0.7378,0.5417,0.65,0.86,0.55,,0.002850(N),0.895(P),"3.48,3.33,3.46(T,T,T)",0.0000(T),0.066,-0.241382,5.22,4.2,-0.121000,1.192000,1.294000,0.227000,0.998000,1.000000,4.3541
synonymous_variant,PACSIN2,SILENT,NM_001184970.1:p.Pro292Pro/c.876G>A,ccG/ccA,LOW,COSM3759236(3),0.340855,0.0933,rs2899365,,,,,,chr22,43278220,43278220,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro292Pro/c.876G>A|486|PACSIN2|protein_coding|CODING|NM_001184970.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro292Pro/c.876G>A|445|PACSIN2|protein_coding|CODING|NM_001184971.1|7|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro292Pro/c.876G>A|486|PACSIN2|protein_coding|CODING|NM_007229.3|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4162,0.3761,0.4622,0.46,0.41,0.48,,,,,,,,,,,,,,,,
synonymous_variant,PACSIN2,SILENT,NM_001184970.1:p.Leu69Leu/c.207C>T,ctC/ctT,LOW,COSM3759237(9),0.274361,0.0933,rs5759013,,,,,,chr22,43289473,43289473,G,A,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu69Leu/c.207C>T|486|PACSIN2|protein_coding|CODING|NM_001184970.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu69Leu/c.207C>T|445|PACSIN2|protein_coding|CODING|NM_001184971.1|3|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu69Leu/c.207C>T|486|PACSIN2|protein_coding|CODING|NM_007229.3|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3988,0.3573,0.4304,0.37,0.21,0.45,,,,,,,,,,,,,,,,
missense_variant,MCAT,MISSENSE,NM_173467.4:p.Ala303Gly/c.908C>G,gCg/gGg,MODERATE,COSM3759241(1),0.489617,0.6369,rs13815,0.99(T),0.0(B),-0.76(N),-0.9599(T),,chr22,43529314,43529314,G,C,het,"missense_variant(MODERATE|MISSENSE|gCg/gGg|p.Ala303Gly/c.908C>G|390|MCAT|protein_coding|CODING|NM_173467.4|4|1),3_prime_UTR_variant(MODIFIER||147|c.*147C>G|180|MCAT|protein_coding|CODING|NM_014507.3|3|1),non_coding_exon_variant(MODIFIER|||n.773C>G||MCAT||CODING|NR_046423.1|3|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:DNase1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.4836,0.5432,0.663,0.55,0.29,0.68,,0.000000(N),0.000(P),1.1(T),0.0000(T),0.089,-0.591281,5.46,5.46,-0.120000,1.322000,2.987000,0.004000,0.126000,0.766000,16.4628
synonymous_variant,TTLL12,SILENT,NM_015140.3:p.Val206Val/c.618G>A,gtG/gtA,LOW,,0.048722,0.0208,rs33970602,,,,,,chr22,43575935,43575935,C,T,het,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val206Val/c.618G>A|644|TTLL12|protein_coding|CODING|NM_015140.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0576,0.0358,0.04,0.06,0.03,,,,,,,,,,,,,,,,
synonymous_variant,TTLL12,SILENT,NM_015140.3:p.Pro189Pro/c.567G>A,ccG/ccA,LOW,COSM1416675(1),0.000199681,0,rs139884471,,,,,,chr22,43575986,43575986,C,T,het,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro189Pro/c.567G>A|644|TTLL12|protein_coding|CODING|NM_015140.3|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0,0,0.001,,,,,,,,,,,,,,,,,,,
synonymous_variant,TTLL12,SILENT,NM_015140.3:p.His130His/c.390C>T,caC/caT,LOW,COSM445089(3),0.327676,0.3165,rs2071723,,,,,,chr22,43576904,43576904,G,A,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His130His/c.390C>T|644|TTLL12|protein_coding|CODING|NM_015140.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3303,0.3905,0.4105,0.35,0.25,0.40,,,,,,,,,,,,,,,,
synonymous_variant,SCUBE1,SILENT,NM_173050.3:p.Ala829Ala/c.2487G>A,gcG/gcA,LOW,COSM4156366(1),0.696486,0.9286,rs5759217,,,,,,chr22,43606143,43606143,C,T,het,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala829Ala/c.2487G>A|988|SCUBE1|protein_coding|CODING|NM_173050.3|19|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6973,0.7608,0.6938,0.63,0.49,0.70,,,,,,,,,,,,,,,,
synonymous_variant,SCUBE1,SILENT,NM_173050.3:p.Thr707Thr/c.2121G>A,acG/acA,LOW,,0.0730831,0.0159,rs7284575,,,,,,chr22,43608531,43608531,C,T,het,synonymous_variant(LOW|SILENT|acG/acA|p.Thr707Thr/c.2121G>A|988|SCUBE1|protein_coding|CODING|NM_173050.3|17|1),"NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0521,0.0764,0.0368,0.07,0.14,0.03,,,,,,,,,,,,,,,,
missense_variant,SCUBE1,MISSENSE,NM_173050.3:p.Ser648Pro/c.1942T>C,Tca/Cca,MODERATE,COSM445091(3),0.434505,0.0784,rs138993,0.8(T),0.0(B),-1.06(N),-1.0140(T),,chr22,43610207,43610207,A,G,hom,missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser648Pro/c.1942T>C|988|SCUBE1|protein_coding|CODING|NM_173050.3|16|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5164,0.5865,0.6789,0.61,0.44,0.69,,0.000023(N),0.000(P),2.7(T),0.0000(T),0.045,-0.520336,3.81,3.81,-0.246000,0.958000,4.576000,0.167000,0.976000,1.000000,11.924
synonymous_variant,SCUBE1,SILENT,NM_173050.3:p.Arg410Arg/c.1230C>T,cgC/cgT,LOW,,0.223642,0.0327,rs6003114,,,,,,chr22,43619200,43619200,G,A,het,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg410Arg/c.1230C>T|988|SCUBE1|protein_coding|CODING|NM_173050.3|11|1),"GM06990:H3K27me3,GM12878:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3262,0.2939,0.2505,0.28,0.26,0.28,,,,,,,,,,,,,,,,
missense_variant,SCUBE1,MISSENSE,NM_173050.3:p.Gly398Arg/c.1192G>C,Ggg/Cgg,MODERATE,COSM3759243(3),0.736621,0.5377,rs129415,0.67(T),0.009(B),1.235(L),-0.9781(T),,chr22,43623395,43623395,C,G,hom,missense_variant(MODERATE|MISSENSE|Ggg/Cgg|p.Gly398Arg/c.1192G>C|988|SCUBE1|protein_coding|CODING|NM_173050.3|10|1),"GM06990:H3K27me3,H1ESC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7536,0.6527,0.7237,0.77,0.90,0.71,,0.001422(N),0.000(P),-2.5(D),0.0000(T),0.039,0.528224,3.91,-7.04,-1.511000,-1.366000,2.953000,0.398000,0.411000,1.000000,11.0482
synonymous_variant,MPPED1,SILENT,NM_001044370.1:p.Tyr89Tyr/c.267C>T,taC/taT,LOW,,0.354633,0.0873,rs2413761,,,,,,chr22,43830996,43830996,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr89Tyr/c.267C>T|326|MPPED1|protein_coding|CODING|NM_001044370.1|3|1),"GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3793,0.3919,0.4861,0.48,0.41,0.52,,,,,,,,,,,,,,,,
synonymous_variant,MPPED1,SILENT,NM_001044370.1:p.Tyr109Tyr/c.327C>T,taC/taT,LOW,COSM3766718(1),0.355431,0.0873,rs4331615,,,,,,chr22,43831056,43831056,C,T,het,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr109Tyr/c.327C>T|326|MPPED1|protein_coding|CODING|NM_001044370.1|3|1),"GM06990:H3K27me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3834,0.3919,0.4861,0.48,0.41,0.52,,,,,,,,,,,,,,,,
missense_variant,EFCAB6,MISSENSE,NM_022785.3:p.Glu1223Lys/c.3667G>A,Gag/Aag,MODERATE,,0.0984425,0.0288,rs61995890,0.34(T),0.032(B),1.375(L),-1.0880(T),,chr22,43936219,43936219,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1223Lys/c.3667G>A|1501|EFCAB6|protein_coding|CODING|NM_022785.3|28|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1071Lys/c.3211G>A|1349|EFCAB6|protein_coding|CODING|NM_198856.2|26|1)","GM06990:H3K27me3,K562:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1074,0.1066,0.172,0.15,0.10,0.17,,0.026268(N),0.026(P),"-1.34,-1.34(T,T)",0.0009(T),0.266,1.704657,5.49,2.02,0.650000,0.787000,0.472000,0.981000,0.687000,0.269000,5.0927
synonymous_variant,EFCAB6,SILENT,NM_022785.3:p.Ala411Ala/c.1233A>G,gcA/gcG,LOW,COSM149306(1),0.0808706,0.0327,rs8141450,,,,,,chr22,44079645,44079645,T,C,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala411Ala/c.1233A>G|1501|EFCAB6|protein_coding|CODING|NM_022785.3|12|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala259Ala/c.777A>G|1349|EFCAB6|protein_coding|CODING|NM_198856.2|10|1)",HepG2:H3K27me3,,,,0.1595,0.0807,0.1481,0.10,0.03,0.14,,,,,,,,,,,,,,,,
missense_variant,EFCAB6,MISSENSE,NM_022785.3:p.Thr351Ala/c.1051A>G,Act/Gct,MODERATE,COSM3759244(1),0.415735,0.2669,rs5764214,0.47(T),"0.002,0.001(B,B)",1.1(L),-0.9209(T),,chr22,44083442,44083442,T,C,hom,"missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr351Ala/c.1051A>G|1501|EFCAB6|protein_coding|CODING|NM_022785.3|11|1),missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr199Ala/c.595A>G|1349|EFCAB6|protein_coding|CODING|NM_198856.2|9|1)",,,,,0.4969,0.2867,0.4573,0.48,0.50,0.47,,0.056195(N),1.000(P),"3.17,3.17(T,T)",0.0000(T),0.019,0.496279,4.68,-3.84,0.533000,-0.759000,-1.233000,0.958000,0.001000,0.000000,13.2868
synonymous_variant,EFCAB6,SILENT,NM_022785.3:p.Ser255Ser/c.765G>A,tcG/tcA,LOW,,0.798522,0.8581,rs5764234,,,,,,chr22,44112845,44112845,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser255Ser/c.765G>A|1501|EFCAB6|protein_coding|CODING|NM_022785.3|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser103Ser/c.309G>A|1349|EFCAB6|protein_coding|CODING|NM_198856.2|7|1)",,,,,0.7771,0.7853,0.7366,0.78,0.81,0.76,,,,,,,,,,,,,,,,
missense_variant,PNPLA3,MISSENSE,NM_025225.2:p.Gly115Cys/c.343G>T,Ggc/Tgc,MODERATE,COSM3759246(1),0.121805,0.0694,rs2076212,0.31(T),0.0(B),-0.585(N),-1.0994(T),,chr22,44322970,44322970,G,T,het,missense_variant(MODERATE|MISSENSE|Ggc/Tgc|p.Gly115Cys/c.343G>T|481|PNPLA3|protein_coding|CODING|NM_025225.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.1401,0.1095,0.1262,0.14,0.16,0.13,,0.148858(N),1.000(P),"-1.08,-1.08(T,T)",0.0007(T),0.09,-0.456571,5.5,-6.85,-0.269000,-1.567000,-0.199000,0.002000,0.000000,0.000000,6.1878
missense_variant,PNPLA3,MISSENSE,NM_025225.2:p.Ile148Met/c.444C>G,atC/atG,MODERATE,COSM149307(3),0.262181,0.3502,rs738409,0.03(D),0.944(D),3.265(M),-1.0285(T),,chr22,44324727,44324727,C,G,het,missense_variant(MODERATE|MISSENSE|atC/atG|p.Ile148Met/c.444C>G|481|PNPLA3|protein_coding|CODING|NM_025225.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3","Nonalcoholic_fatty_liver_disease,Liver_enzyme_levels_alanine_transaminase,Nonalcoholic_fatty_liver_disease",,,0.2464,0.4841,0.2256,0.20,0.15,0.22,,0.016391(N),0.000(P),"-1.41,-1.41(T,T)",0.0000(T),0.209,1.841297,5.7,-1.97,-0.136000,-0.125000,-0.914000,0.080000,0.289000,0.058000,6.3831
synonymous_variant,PNPLA3,SILENT,NM_025225.2:p.Pro149Pro/c.447C>T,ccC/ccT,LOW,COSM149308(2),0.262181,0.3502,rs386496818,,,,,,chr22,44324730,44324730,C,T,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro149Pro/c.447C>T|481|PNPLA3|protein_coding|CODING|NM_025225.2|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2464,0.4841,0.2256,0.19,0.14,0.22,,,,,,,,,,,,,,,,
missense_variant,PNPLA3,MISSENSE,NM_025225.2:p.Lys434Glu/c.1300A>G,Aag/Gag,MODERATE,COSM4156373(1),0.78774,0.8185,rs2294918,0.31(T),0.0(B),0(N),-0.9931(T),,chr22,44342116,44342116,A,G,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys434Glu/c.1300A>G|481|PNPLA3|protein_coding|CODING|NM_025225.2|9|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,CD4:DNase1,K562:CTCF,HMEC:H3K36me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:DNase1,HSMM:CTCF,HeLa-S3:CTCF,GM12878:CTCF,HUVEC:DNase1,IMR90:H3K36me3,HMEC:CTCF,NH-A:CTCF,NHEK:H3K36me3,HepG2:CTCF,HepG2:H3K36me3,GM06990:DNase1,H1ESC:CTCF,GM06990:CTCF",,,,0.772,0.7882,0.6292,0.68,0.85,0.59,,0.000015(N),1.000(P),"1.36,1.36(T,T)",0.0000(T),0.017,-1.343700,2.74,-5.47,-1.163000,-1.617000,-2.202000,0.001000,0.000000,0.000000,1.4741
synonymous_variant,SAMM50,SILENT,NM_015380.4:p.Leu339Leu/c.1017T>C,ctT/ctC,LOW,,0.727636,0.8165,rs10452,,,,,,chr22,44379822,44379822,T,C,het,synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu339Leu/c.1017T>C|469|SAMM50|protein_coding|CODING|NM_015380.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7474,0.6254,0.5984,0.63,0.76,0.57,,,,,,,,,,,,,,,,
missense_variant,SAMM50,MISSENSE,NM_015380.4:p.Ile345Val/c.1033A>G,Atc/Gtc,MODERATE,,0.766973,0.8194,rs386617024,1(T),0.002(B),-0.31(N),-0.9637(T),,chr22,44379838,44379838,A,G,het,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile345Val/c.1033A>G|469|SAMM50|protein_coding|CODING|NM_015380.4|12|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7526,0.6441,0.6143,0.68,0.86,0.58,,0.000179(N),1.000(P),"1.41,1.41(T,T)",0.0000(T),0.069,-1.466822,5.04,5.04,-0.128000,1.255000,3.202000,0.012000,0.599000,1.000000,11.4569
missense_variant,PARVB,MISSENSE,NM_001003828.2:p.Trp37Arg/c.109T>C,Tgg/Cgg,MODERATE,COSM149312(4),0.531949,0.4623,rs1007863,0.86(T),0.002(B),0(N),-0.9504(T),,chr22,44395451,44395451,T,C,het,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp37Arg/c.109T>C|397|PARVB|protein_coding|CODING|NM_001003828.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5337,0.5014,0.4344,0.45,0.58,0.38,,0.998800(N),1.000(P),1.33(T),0.0000(T),0.02,-1.586745,1.91,-3.83,-1.645000,-1.311000,-2.505000,0.001000,0.000000,0.000000,7.888
missense_variant,PARVB,MISSENSE,NM_001003828.2:p.Val91Ala/c.272T>C,gTg/gCg,MODERATE,COSM4004956(1),0.872204,0.9593,rs1983609,0.7(T),"0.0,0.001,0.001,0.005(B,B,B,B)",0.025(N),-1.0362(T),,chr22,44489868,44489868,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val91Ala/c.272T>C|397|PARVB|protein_coding|CODING|NM_001003828.2|3|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val21Ala/c.62T>C|327|PARVB|protein_coding|CODING|NM_001243385.1|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val6Ala/c.17T>C|289|PARVB|protein_coding|CODING|NM_001243386.1|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val58Ala/c.173T>C|364|PARVB|protein_coding|CODING|NM_013327.4|2|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.771,0.8818,0.7386,0.82,0.95,0.76,,0.525663(N),1.000(P),"1.5,1.5,1.5,1.5,1.5(T,T,T,T,T)",0.0000(T),0.161,-1.193909,4.91,-4.14,-1.073000,-1.601000,0.009000,0.001000,0.001000,0.004000,8.9807
synonymous_variant,PARVG,SILENT,NM_001137605.2:p.Val160Val/c.480C>T,gtC/gtT,LOW,COSM3759247(1),0.17472,0.12,rs2272942,,,,,,chr22,44586522,44586522,C,T,het,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val160Val/c.480C>T|331|PARVG|protein_coding|CODING|NM_001137605.2|7|1),synonymous_variant(LOW|SILENT|gtC/gtT|p.Val160Val/c.480C>T|331|PARVG|protein_coding|CODING|NM_022141.6|7|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.18,0.1758,0.3618,0.26,0.10,0.34,,,,,,,,,,,,,,,,
synonymous_variant,PARVG,SILENT,NM_001137605.2:p.Pro265Pro/c.795C>G,ccC/ccG,LOW,COSM3759248(1),0.204073,0.1954,rs139152,,,,,,chr22,44594584,44594584,C,G,hom,"synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro265Pro/c.795C>G|331|PARVG|protein_coding|CODING|NM_001137605.2|12|1),synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro265Pro/c.795C>G|331|PARVG|protein_coding|CODING|NM_022141.6|12|1)","HMEC:H3K27me3,CD4:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.2168,0.2046,0.3966,0.30,0.10,0.39,,,,,,,,,,,,,,,,
synonymous_variant,PARVG,SILENT,NM_001137605.2:p.Arg307Arg/c.919A>C,Agg/Cgg,LOW,COSM3722941(3),0.73123,0.6518,rs139186,,,,,,chr22,44602229,44602229,A,C,het,"synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg307Arg/c.919A>C|331|PARVG|protein_coding|CODING|NM_001137605.2|14|1),synonymous_variant(LOW|SILENT|Agg/Cgg|p.Arg307Arg/c.919A>C|331|PARVG|protein_coding|CODING|NM_022141.6|14|1)","HSMM:DNase1,CD4:H2BK5me1,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.6493,0.67,0.8569,0.83,0.79,0.85,,,,,,,,,,,,,,,,
synonymous_variant,KIAA1644,SILENT,NM_001099294.1:p.Leu99Leu/c.295T>C,Ttg/Ctg,LOW,COSM3759249(1),0.465056,0.3284,rs135388,,,,,,chr22,44681612,44681612,A,G,hom,synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu99Leu/c.295T>C|199|KIAA1644|protein_coding|CODING|NM_001099294.1|4|1),"GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3,H1ESC:CTCF",,,,0.6053,0.3674,0.6163,0.57,0.44,0.63,,,,,,,,,,,,,,,,
missense_variant,PRR5,MISSENSE,NM_001198721.1:p.Met20Thr/c.59T>C,aTg/aCg,MODERATE,,0.703874,0.6161,rs763213,0(D),0.0(B),,-1.0648(T),,chr22,45075738,45075738,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met20Thr/c.59T>C|411|PRR5|protein_coding|CODING|NM_001198721.1|2|1),intron_variant(MODIFIER|||c.-11+11053T>C|379|PRR5|protein_coding|CODING|NM_001017528.2|1|1),intron_variant(MODIFIER|||c.-152+11053T>C|293|PRR5|protein_coding|CODING|NM_001017529.2|1|1),intron_variant(MODIFIER|||c.-11+2618T>C|379|PRR5|protein_coding|CODING|NM_015366.3|1|1),intron_variant(MODIFIER|||c.-152+2618T>C|293|PRR5|protein_coding|CODING|NM_001017530.1|1|1)","IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K36me3",,,,0.5961,0.755,0.6292,0.70,0.85,0.64,,,1.000(P),1.58(T),0.0000(T),0.01,-0.996854,0.361,0.361,-0.473000,-0.476000,-0.189000,0.000000,0.001000,0.000000,.
synonymous_variant,PRR5-ARHGAP8,SILENT,NM_181334.4:p.Pro166Pro/c.498A>G,ccA/ccG,LOW,,0.638778,0.5605,rs2239813,,,,-0.9880(T),,chr22,45198009,45198009,A,G,het,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro44Pro/c.132A>G|464|ARHGAP8|protein_coding|CODING|NM_001017526.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro44Pro/c.132A>G|305|ARHGAP8|protein_coding|CODING|NM_001198726.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro166Pro/c.498A>G|555|PRR5-ARHGAP8|protein_coding|CODING|NM_181334.4|6|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro44Pro/c.132A>G|433|ARHGAP8|protein_coding|CODING|NM_181335.2|3|1)","H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6513,0.6729,0.4781,0.54,0.75,0.44,,,0.000(P),,0.0000(T),.,-0.308200,4.28,-2.83,-2.548000,-0.574000,-2.827000,0.197000,0.943000,0.000000,0.9958
synonymous_variant,PRR5-ARHGAP8,SILENT,NM_181334.4:p.Pro304Pro/c.912A>T,ccA/ccT,LOW,COSM3766721(1),0.146166,0.0099,rs3209476,,,,-1.0356(T),,chr22,45221423,45221423,A,T,het,"synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro213Pro/c.639A>T|464|ARHGAP8|protein_coding|CODING|NM_001017526.1|8|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro182Pro/c.546A>T|305|ARHGAP8|protein_coding|CODING|NM_001198726.1|7|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro304Pro/c.912A>T|555|PRR5-ARHGAP8|protein_coding|CODING|NM_181334.4|10|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro182Pro/c.546A>T|433|ARHGAP8|protein_coding|CODING|NM_181335.2|7|1)","H1ESC:H3K36me3,HMEC:H3K36me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.2188,0.085,0.1948,0.19,0.19,0.20,,,0.630(P),,0.0000(T),.,0.522414,4.39,-8.78,-0.771000,-2.852000,-6.362000,0.001000,0.002000,0.000000,1.066
synonymous_variant,PRR5-ARHGAP8,SILENT,NM_181334.4:p.Leu411Leu/c.1233C>T,ctC/ctT,LOW,COSM4156379(1),0.367212,0.3105,rs2269543,,,,-1.0091(T),,chr22,45244930,45244930,C,T,het,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu320Leu/c.960C>T|464|ARHGAP8|protein_coding|CODING|NM_001017526.1|11|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu289Leu/c.867C>T|305|ARHGAP8|protein_coding|CODING|NM_001198726.1|10|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu411Leu/c.1233C>T|555|PRR5-ARHGAP8|protein_coding|CODING|NM_181334.4|13|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu289Leu/c.867C>T|433|ARHGAP8|protein_coding|CODING|NM_181335.2|10|1)","H1ESC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.32,0.2594,0.2495,0.36,0.53,0.27,,,0.000(P),,0.0000(T),.,-0.376321,3.82,-7.64,-0.244000,-1.448000,-2.997000,0.505000,0.002000,0.000000,9.5126
missense_variant,PRR5-ARHGAP8,MISSENSE,NM_181334.4:p.Gly513Ser/c.1537G>A,Ggc/Agc,MODERATE,,0.000798722,0,rs140567858,0.8(T),"0.001,0.002,0.001,0.0,0.004(B,B,B,B,B)",1.04(L),-0.9377(T),,chr22,45258344,45258344,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly422Ser/c.1264G>A|464|ARHGAP8|protein_coding|CODING|NM_001017526.1|13|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly513Ser/c.1537G>A|555|PRR5-ARHGAP8|protein_coding|CODING|NM_181334.4|15|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly391Ser/c.1171G>A|433|ARHGAP8|protein_coding|CODING|NM_181335.2|12|1),3_prime_UTR_variant(MODIFIER||149|c.*149G>A|305|ARHGAP8|protein_coding|CODING|NM_001198726.1|11|1)","H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.001,0,0.002,0.00,0.00,0.00,,,1.000(N),"2.38,2.34,2.34,2.38,2.32,2.32(T,T,T,T,T,T)",0.0215(T),0.577,0.861633,3.04,-3.63,-2.156000,-0.651000,-2.413000,0.000000,0.000000,0.000000,5.0387
synonymous_variant,PRR5-ARHGAP8,SILENT,NM_181334.4:p.Ala550Ala/c.1650A>G,gcA/gcG,LOW,,0.0483227,0.001,rs386619547,,,,-1.0628(T),,chr22,45258457,45258457,A,G,het,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala459Ala/c.1377A>G|464|ARHGAP8|protein_coding|CODING|NM_001017526.1|13|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala550Ala/c.1650A>G|555|PRR5-ARHGAP8|protein_coding|CODING|NM_181334.4|15|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala428Ala/c.1284A>G|433|ARHGAP8|protein_coding|CODING|NM_181335.2|12|1),3_prime_UTR_variant(MODIFIER||262|c.*262A>G|305|ARHGAP8|protein_coding|CODING|NM_001198726.1|11|1)","H1ESC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3",,,,0.0368,0.0893,0.1153,0.10,0.04,0.13,,,1.000(P),,0.0005(T),.,-0.146116,2.78,-5.57,-2.545000,-2.807000,-1.357000,0.001000,0.000000,0.000000,1.4089
synonymous_variant,PHF21B,SILENT,NM_138415.4:p.Pro381Pro/c.1143G>A,ccG/ccA,LOW,,0.180711,0.0833,rs6006901,,,,,,chr22,45283897,45283897,C,T,het,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro339Pro/c.1017G>A|489|PHF21B|protein_coding|CODING|NM_001135862.2|11|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro327Pro/c.981G>A|477|PHF21B|protein_coding|CODING|NM_001242450.1|10|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro177Pro/c.531G>A|327|PHF21B|protein_coding|CODING|NM_001284296.1|11|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro381Pro/c.1143G>A|531|PHF21B|protein_coding|CODING|NM_138415.4|10|1)","H1ESC:H3K36me3,K562:H3K27me3,HepG2:H3K27me3",,,,0.1708,0.1225,0.1004,0.17,0.29,0.10,,,,,,,,,,,,,,,,
synonymous_variant,PHF21B,SILENT,NM_138415.4:p.Ala160Ala/c.480C>T,gcC/gcT,LOW,COSM1416758(3),0.149161,0.0119,rs6519902,,,,,,chr22,45312244,45312244,G,A,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala160Ala/c.480C>T|489|PHF21B|protein_coding|CODING|NM_001135862.2|5|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala148Ala/c.444C>T|477|PHF21B|protein_coding|CODING|NM_001242450.1|4|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala160Ala/c.480C>T|531|PHF21B|protein_coding|CODING|NM_138415.4|4|1),5_prime_UTR_premature_start_codon_gain_variant(LOW||||327|PHF21B|protein_coding|CODING|NM_001284296.1|5|1),5_prime_UTR_variant(MODIFIER||7|c.-7C>T|327|PHF21B|protein_coding|CODING|NM_001284296.1|5|1)","H1ESC:H3K36me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.1462,0.0908,0.0974,0.16,0.27,0.11,,,,,,,,,,,,,,,,
synonymous_variant,UPK3A,SILENT,NM_006953.3:p.Val134Val/c.402C>T,gtC/gtT,LOW,COSM4156382(1),0.548123,0.5417,rs2673088,,,,,,chr22,45683246,45683246,C,T,hom,"synonymous_variant(LOW|SILENT|gtC/gtT|p.Val134Val/c.402C>T|287|UPK3A|protein_coding|CODING|NM_006953.3|3|1),intron_variant(MODIFIER|||c.208+1269C>T|166|UPK3A|protein_coding|CODING|NM_001167574.1|2|1)","HepG2:H3K4me2,HUVEC:H3K27me3,HepG2:H3K27ac,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.636,0.768,0.7316,0.61,0.32,0.76,,,,,,,,,,,,,,,,
missense_variant,UPK3A,MISSENSE,NM_006953.3:p.Ala154Pro/c.460G>C,Gca/Cca,MODERATE,COSM4004958(2),0.774361,0.7262,rs1057353,0.7(T),0.001(B),-0.745(N),-0.9554(T),,chr22,45683304,45683304,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gca/Cca|p.Ala154Pro/c.460G>C|287|UPK3A|protein_coding|CODING|NM_006953.3|3|1),intron_variant(MODIFIER|||c.208+1327G>C|166|UPK3A|protein_coding|CODING|NM_001167574.1|2|1)","HepG2:H3K4me2,HUVEC:H3K27me3,HepG2:H3K27ac,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.7679,0.817,0.7396,0.79,0.81,0.78,,0.010158(N),0.000(P),-0.03(T),0.0000(T),0.094,-0.922748,5.51,3.37,-0.127000,0.273000,0.433000,0.424000,0.953000,0.984000,15.7033
synonymous_variant,UPK3A,SILENT,NM_006953.3:p.Gln286Gln/c.858A>G,caA/caG,LOW,COSM3759254(3),0.628195,0.6508,rs1057356,,,,,,chr22,45691594,45691594,A,G,het,"synonymous_variant(LOW|SILENT|caA/caG|p.Gln165Gln/c.495A>G|166|UPK3A|protein_coding|CODING|NM_001167574.1|4|1),synonymous_variant(LOW|SILENT|caA/caG|p.Gln286Gln/c.858A>G|287|UPK3A|protein_coding|CODING|NM_006953.3|6|1)","HUVEC:H3K27me3,CD4:H4K91ac,NHEK:H3K27me3,HSMM:H3K27me3",,,,0.637,0.4841,0.3598,0.50,0.80,0.35,,,,,,,,,,,,,,,,
missense_variant,FAM118A,MISSENSE,NM_001104595.1:p.Val129Leu/c.385G>C,Gtg/Ctg,MODERATE,COSM3759255(1),0.53734,0.5258,rs11556482,0.31(T),0.0(B),0(N),-0.9759(T),,chr22,45723807,45723807,G,C,het,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val129Leu/c.385G>C|357|FAM118A|protein_coding|CODING|NM_001104595.1|5|1),missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val129Leu/c.385G>C|357|FAM118A|protein_coding|CODING|NM_017911.2|4|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4673,0.402,0.2932,0.44,0.75,0.28,,0.930981(N),1.000(P),"1.03,1.03,0.98,0.99(T,T,T,T)",0.0000(T),0.133,-0.726183,5.12,-0.0348,-0.335000,0.124000,1.400000,0.190000,0.119000,0.935000,13.0846
synonymous_variant,FAM118A,SILENT,NM_001104595.1:p.Arg140Arg/c.420G>A,agG/agA,LOW,COSM3759256(1),0.536342,0.5268,rs17851057,,,,,,chr22,45723842,45723842,G,A,het,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg140Arg/c.420G>A|357|FAM118A|protein_coding|CODING|NM_001104595.1|5|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg140Arg/c.420G>A|357|FAM118A|protein_coding|CODING|NM_017911.2|4|1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.4673,0.4006,0.2932,0.44,0.75,0.28,,,,,,,,,,,,,,,,
synonymous_variant,FAM118A,SILENT,NM_001104595.1:p.Val144Val/c.432C>G,gtC/gtG,LOW,COSM3759257(4),0.313299,0.3006,rs9615108,,,,,,chr22,45723854,45723854,C,G,het,"synonymous_variant(LOW|SILENT|gtC/gtG|p.Val144Val/c.432C>G|357|FAM118A|protein_coding|CODING|NM_001104595.1|5|1),synonymous_variant(LOW|SILENT|gtC/gtG|p.Val144Val/c.432C>G|357|FAM118A|protein_coding|CODING|NM_017911.2|4|1)","H1ESC:H3K36me3,CD4:DNase1,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:H3K27me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:DNase1,GM06990:H3K36me3",,,,0.2812,0.5014,0.5905,0.44,0.12,0.60,,,,,,,,,,,,,,,,
missense_variant,FAM118A,MISSENSE,NM_001104595.1:p.Arg239His/c.716G>A,cGt/cAt,MODERATE,COSM149314(4),0.525559,0.5218,rs6007594,0.11(T),0.934(D),0.755(N),-1.1102(T),,chr22,45728370,45728370,G,A,het,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg239His/c.716G>A|357|FAM118A|protein_coding|CODING|NM_001104595.1|7|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg239His/c.716G>A|357|FAM118A|protein_coding|CODING|NM_017911.2|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4591,0.3905,0.2724,0.43,0.74,0.27,,0.000067(D),0.000(P),"1.58,1.58,1.58(T,T,T)",0.0000(T),0.345,3.981425,5.8,5.8,0.655000,2.743000,5.769000,0.953000,0.243000,1.000000,12.9483
synonymous_variant,SMC1B,SILENT,NM_148674.4:p.Ala1139Ala/c.3417T>C,gcT/gcC,LOW,COSM3759259(2),0.289736,0.2946,rs5765275,,,,,,chr22,45748339,45748339,A,G,het,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1139Ala/c.3417T>C|1235|SMC1B|protein_coding|CODING|NM_148674.4|22|1),intron_variant(MODIFIER|||c.3273+1519T>C|1161|SMC1B|protein_coding|CODING|NM_001291501.1|21|1)",,,,,0.272,0.4683,0.494,0.39,0.11,0.52,,,,,,,,,,,,,,,,
missense_variant,SMC1B,MISSENSE,NM_148674.4:p.Leu1050Met/c.3148C>A,Ctg/Atg,MODERATE,COSM3759263(1),0.288139,0.2946,rs5764698,0.11(T),"0.003,0.003(B,B)",0.345(N),-0.9585(T),,chr22,45749983,45749983,G,T,het,"missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu1050Met/c.3148C>A|1161|SMC1B|protein_coding|CODING|NM_001291501.1|21|1),missense_variant(MODERATE|MISSENSE|Ctg/Atg|p.Leu1050Met/c.3148C>A|1235|SMC1B|protein_coding|CODING|NM_148674.4|21|1)",CD4:DNase1,,,,0.271,0.4654,0.492,0.39,0.11,0.52,,0.391884(N),1.000(P),"-1.24,-1.04(T,T)",0.0000(T),0.025,1.670439,5.74,2.38,-0.346000,0.107000,0.418000,0.951000,0.776000,0.249000,2.7414
missense_variant,SMC1B,MISSENSE,NM_148674.4:p.Cys748Tyr/c.2243G>A,tGt/tAt,MODERATE,COSM4156384(1),0.0866613,0.003,rs56174639,0.47(T),"0.001,0.001,0.003(B,B,B)",-0.75(N),-1.1036(T),,chr22,45767421,45767421,C,T,het,"missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys748Tyr/c.2243G>A|1161|SMC1B|protein_coding|CODING|NM_001291501.1|14|1),missense_variant(MODERATE|MISSENSE|tGt/tAt|p.Cys748Tyr/c.2243G>A|1235|SMC1B|protein_coding|CODING|NM_148674.4|14|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.0593,0.0908,0.1889,0.14,0.09,0.16,,0.037825(N),1.000(P),"-1.14,-0.97(T,T)",0.0002(T),0.142,0.184893,5.66,3.35,0.655000,2.669000,0.560000,0.345000,0.436000,0.022000,6.1198
synonymous_variant,SMC1B,SILENT,NM_148674.4:p.Leu737Leu/c.2209T>C,Tta/Cta,LOW,COSM3759269(1),0.71226,0.7054,rs136569,,,,,,chr22,45767455,45767455,A,G,het,"synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu737Leu/c.2209T>C|1161|SMC1B|protein_coding|CODING|NM_001291501.1|14|1),synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu737Leu/c.2209T>C|1235|SMC1B|protein_coding|CODING|NM_148674.4|14|1)","HUVEC:H3K27me3,HepG2:H3K27me3",,,,0.728,0.5375,0.506,0.61,0.89,0.48,,,,,,,,,,,,,,,,
synonymous_variant,SMC1B,SILENT,NM_148674.4:p.Leu585Leu/c.1755A>G,ctA/ctG,LOW,COSM1416789(2),0.566494,0.5268,rs6007010,,,,,,chr22,45782903,45782903,T,C,het,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu585Leu/c.1755A>G|1161|SMC1B|protein_coding|CODING|NM_001291501.1|11|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu585Leu/c.1755A>G|1235|SMC1B|protein_coding|CODING|NM_148674.4|11|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.4683,0.3977,0.3728,0.50,0.83,0.36,,,,,,,,,,,,,,,,
missense_variant,SMC1B,MISSENSE,NM_148674.4:p.Phe473Val/c.1417T>G,Ttt/Gtt,MODERATE,,1,1,rs136603,0.35(T),"0.0,0.0,0.0(B,B,B)",-2.42(N),-0.9172(T),,chr22,45789642,45789642,A,C,hom,"missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe473Val/c.1417T>G|1161|SMC1B|protein_coding|CODING|NM_001291501.1|9|1),missense_variant(MODERATE|MISSENSE|Ttt/Gtt|p.Phe473Val/c.1417T>G|1235|SMC1B|protein_coding|CODING|NM_148674.4|9|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,1,1,1,,,,,0.000046(N),1.000(P),"3.92,3.92(T,T)",0.0000(T),0.158,0.050336,6.07,5.01,-0.195000,0.810000,1.822000,0.985000,1.000000,1.000000,7.02
stop_gained,RIBC2,NONSENSE,NM_015653.4:p.Trp245*/c.734G>A,tGg/tAg,HIGH,,0.705671,0.6925,rs1022477,,,,,RIBC2:1.00(1);RIBC2:1.00(1);,chr22,45821887,45821887,G,A,het,stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp245*/c.734G>A|381|RIBC2|protein_coding|CODING|NM_015653.4|5|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7331,0.5403,0.508,0.61,0.86,0.48,,,,,,,,,,,,,,,,
missense_variant,RIBC2,MISSENSE,NM_015653.4:p.Ser268Trp/c.803C>G,tCg/tGg,MODERATE,COSM3766722(1),0.563898,0.5238,rs1022478,0.72(T),0.093(B),,-1.0389(T),,chr22,45821956,45821956,C,G,het,missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser268Trp/c.803C>G|381|RIBC2|protein_coding|CODING|NM_015653.4|5|1|WARNING_TRANSCRIPT_INCOMPLETE),"H1ESC:H3K36me3,K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.6074,0.3674,0.3579,0.47,0.75,0.32,,0.018129(N),0.870(P),"2.03,2.03(T,T)",0.0000(T),0.323,1.913147,4.3,-8.59,-1.642000,-2.157000,-2.139000,0.930000,0.099000,0.005000,10.231
missense_variant,RIBC2,MISSENSE,NM_015653.4:p.Gly335Ser/c.1003G>A,Ggc/Agc,MODERATE,COSM1416811(1),0.709864,0.6925,rs2072770,0.75(T),0.0(B),,-1.0142(T),,chr22,45826880,45826880,G,A,het,missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly335Ser/c.1003G>A|381|RIBC2|protein_coding|CODING|NM_015653.4|6|1|WARNING_TRANSCRIPT_INCOMPLETE),"K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.7311,0.5418,0.5089,0.62,0.88,0.49,,0.228266(N),1.000(P),"1.95,1.95(T,T)",0.0000(T),0.347,-0.688857,3.9,0.0163,-0.254000,-0.191000,0.509000,0.008000,0.002000,0.001000,5.3907
missense_variant,FBLN1,MISSENSE,NM_006486.2:p.Gln141Arg/c.422A>G,cAg/cGg,MODERATE,,0.999601,1,rs136730,0.81(T),"0.001,0.0,0.001,0.0(B,B,B,B)",-1.955(N),-0.9598(T),,chr22,45923827,45923827,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln141Arg/c.422A>G|683|FBLN1|protein_coding|CODING|NM_001996.3|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln141Arg/c.422A>G|601|FBLN1|protein_coding|CODING|NM_006485.3|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln141Arg/c.422A>G|703|FBLN1|protein_coding|CODING|NM_006486.2|4|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln141Arg/c.422A>G|566|FBLN1|protein_coding|CODING|NM_006487.2|4|1)","H1ESC:H3K36me3,GM12878:H3K27me3,GM12878:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,1,0.9986,0.999,1.00,1.00,1.00,,0.000001(N),1.000(P),"2.03,2.03,2.03,2.03,2.03,2.03,2.03,2.03,2.03,2.03(T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.329,0.183855,5.21,5.21,-0.119000,1.199000,5.512000,0.498000,0.988000,1.000000,13.6656
synonymous_variant,FBLN1,SILENT,NM_006486.2:p.Ile321Ile/c.963C>T,atC/atT,LOW,COSM4002204(1),0.262181,0.1825,rs9682,,,,,,chr22,45937149,45937149,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile321Ile/c.963C>T|683|FBLN1|protein_coding|CODING|NM_001996.3|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile321Ile/c.963C>T|601|FBLN1|protein_coding|CODING|NM_006485.3|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile321Ile/c.963C>T|703|FBLN1|protein_coding|CODING|NM_006486.2|9|1),synonymous_variant(LOW|SILENT|atC/atT|p.Ile321Ile/c.963C>T|566|FBLN1|protein_coding|CODING|NM_006487.2|9|1)","H1ESC:H3K36me3,GM06990:H3K27me3,GM12878:H3K27me3,NH-A:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2321,0.2637,0.4294,0.36,0.25,0.42,,,,,,,,,,,,,,,,
missense_variant,PRR34,MISSENSE,NM_018280.2:p.Pro28Leu/c.83C>T,cCc/cTc,MODERATE,,0.215455,0.0278,rs12159707,0(D),0.958(D),0(N),-0.9466(T),,chr22,46449891,46449891,G,A,hom,"missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro28Leu/c.83C>T|138|PRR34|protein_coding|CODING|NM_018280.2|1|1),intron_variant(MODIFIER|||n.75+91G>A||PRR34-AS1||NON_CODING|NR_027034.1|1|1)","NHEK:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:H3K4me2,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,HMEC:H3K4me2,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,CD4:H3K4ac,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.1738,0.2723,0.33,0.34,0.37,0.33,,,1.000(P),"1.0,1.0(T,T)",0.0000(T),0.038,0.213778,0.666,0.666,0.645000,0.636000,0.672000,0.010000,0.008000,0.742000,.
synonymous_variant,PKDREJ,SILENT,NM_006071.1:p.Pro2087Pro/c.6261T>C,ccT/ccC,LOW,COSM4002205(1),0.370407,0.0516,rs4508712,,,,,,chr22,46652959,46652959,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro2087Pro/c.6261T>C|2253|PKDREJ|protein_coding|CODING|NM_006071.1|1|1),"HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.1442,0.2147,0.2893,0.47,0.83,0.29,,,,,,,,,,,,,,,,
synonymous_variant,PKDREJ,SILENT,NM_006071.1:p.Ser972Ser/c.2916C>T,agC/agT,LOW,,0.00379393,0.002,rs56301018,,,,,,chr22,46656304,46656304,G,A,het,synonymous_variant(LOW|SILENT|agC/agT|p.Ser972Ser/c.2916C>T|2253|PKDREJ|protein_coding|CODING|NM_006071.1|1|1),"HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0041,0.0058,0.0089,0.00,0.00,0.00,,,,,,,,,,,,,,,,
missense_variant,TTC38,MISSENSE,NM_017931.2:p.Phe243Leu/c.727T>C,Ttc/Ctc,MODERATE,,0.999601,1,rs130642,0.81(T),"0.0,0.001(B,B)",0(N),-0.9454(T),,chr22,46677607,46677607,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe243Leu/c.727T>C|469|TTC38|protein_coding|CODING|NM_017931.2|7|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000120(N),1.000(P),"1.97,-0.71(T,T)",0.0000(T),0.393,1.981053,5.79,3.65,-0.119000,0.304000,1.157000,0.760000,0.108000,0.608000,8.937
missense_variant,GTSE1,MISSENSE,NM_016426.6:p.Trp525Arg/c.1573T>C,Tgg/Cgg,MODERATE,COSM3766725(1),0.971645,1,rs140054,1(T),0.0(B),-1.995(N),-0.9738(T),,chr22,46722400,46722400,T,C,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp525Arg/c.1573T>C|739|GTSE1|protein_coding|CODING|NM_016426.6|9|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9908,0.9352,0.9195,0.94,0.98,0.92,,0.995640(N),1.000(P),3.58(T),0.0000(T),0.07,-1.569631,3.88,-3.82,-1.428000,-1.400000,-0.408000,0.002000,0.000000,0.000000,2.3707
synonymous_variant,CELSR1,SILENT,NM_014246.1:p.Val2576Val/c.7728C>T,gtC/gtT,LOW,,0.0263578,0,rs35852431,,,,,,chr22,46768811,46768811,G,A,het,synonymous_variant(LOW|SILENT|gtC/gtT|p.Val2576Val/c.7728C>T|3014|CELSR1|protein_coding|CODING|NM_014246.1|25|1),"HMEC:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.0307,0.0274,0.0616,0.05,0.02,0.06,,,,,,,,,,,,,,,,
missense_variant,CELSR1,MISSENSE,NM_014246.1:p.Cys1126Arg/c.3376T>C,Tgc/Cgc,MODERATE,COSM3766728(2),0.952875,0.9772,rs4823561,1(T),0.0(B),-2(N),-0.9711(T),,chr22,46929692,46929692,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgc/Cgc|p.Cys1126Arg/c.3376T>C|3014|CELSR1|protein_coding|CODING|NM_014246.1|1|1),"NHEK:CTCF,H1ESC:H3K36me3,HeLa-S3:DNase1,NHEK:H3K4me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,HeLa-S3:CTCF,K562:H3K27me3,NHEK:H3K36me3,HepG2:CTCF,IMR90:H3K27me3,HepG2:H3K27me3,NHEK:DNase1,H1ESC:CTCF",,,,0.9192,0.9625,0.9523,0.93,0.93,0.93,,0.002510(N),0.045(P),"1.3,1.3(T,T)",0.0000(T),0.415,-1.784831,4.53,4.53,-0.355000,0.911000,2.055000,0.265000,1.000000,1.000000,6.4365
missense_variant,CELSR1,MISSENSE,NM_014246.1:p.Ser664Trp/c.1991C>G,tCg/tGg,MODERATE,COSM3759278(3),0.888978,0.9772,rs4823850,,,2.565(M),-0.9974(T),,chr22,46931077,46931077,G,C,hom,missense_variant(MODERATE|MISSENSE|tCg/tGg|p.Ser664Trp/c.1991C>G|3014|CELSR1|protein_coding|CODING|NM_014246.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,GM12878:H3K36me3,HMEC:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.9192,0.9366,0.9533,0.87,0.73,0.94,,,0.984(P),,0.0000(T),.,2.059552,4.52,3.47,0.313000,0.860000,0.617000,0.937000,0.975000,0.001000,2.2439
synonymous_variant,CELSR1,SILENT,NM_014246.1:p.Leu425Leu/c.1275C>G,ctC/ctG,LOW,COSM3759279(3),0.939896,0.9742,rs1009154,,,,,,chr22,46931793,46931793,G,C,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu425Leu/c.1275C>G|3014|CELSR1|protein_coding|CODING|NM_014246.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.9192,0.9597,0.9543,0.92,0.89,0.93,,,,,,,,,,,,,,,,
synonymous_variant,CELSR1,SILENT,NM_014246.1:p.Ser410Ser/c.1230C>T,agC/agT,LOW,COSM4156395(2),0.886581,0.9742,rs1009155,,,,,,chr22,46931838,46931838,G,A,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser410Ser/c.1230C>T|3014|CELSR1|protein_coding|CODING|NM_014246.1|1|1),"H1ESC:H3K36me3,HUVEC:H3K27me3,HMEC:H3K36me3,H1ESC:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.9192,0.9352,0.9533,0.86,0.72,0.93,,,,,,,,,,,,,,,,
synonymous_variant,GRAMD4,SILENT,NM_015124.3:p.Phe174Phe/c.522T>C,ttT/ttC,LOW,,0.999401,0.997,rs2542040,,,,,,chr22,47058992,47058992,T,C,hom,synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe174Phe/c.522T>C|578|GRAMD4|protein_coding|CODING|NM_015124.3|5|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,CERK,MISSENSE,NM_022766.5:p.Leu306Phe/c.918G>T,ttG/ttT,MODERATE,,0.0159744,0,rs13057352,0.09(T),0.045(B),2.05(M),-1.0442(T),,chr22,47095235,47095235,C,A,het,missense_variant(MODERATE|MISSENSE|ttG/ttT|p.Leu306Phe/c.918G>T|537|CERK|protein_coding|CODING|NM_022766.5|8|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0133,0.0403,0.0368,0.03,0.01,0.04,,0.000022(D),0.998(D),"0.73,0.73(T,T)",0.0277(T),0.211,1.988628,5.09,5.09,0.655000,2.370000,3.330000,0.148000,1.000000,1.000000,10.6911
synonymous_variant,ZBED4,SILENT,NM_014838.2:p.Ser175Ser/c.525T>C,agT/agC,LOW,,0.935304,0.9464,rs910796,,,,,,chr22,50277835,50277835,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser175Ser/c.525T>C|1171|ZBED4|protein_coding|CODING|NM_014838.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8916,0.9352,0.8877,0.92,0.98,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ZBED4,SILENT,NM_014838.2:p.Pro191Pro/c.573A>G,ccA/ccG,LOW,,0.935304,0.9464,rs910797,,,,,,chr22,50277883,50277883,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro191Pro/c.573A>G|1171|ZBED4|protein_coding|CODING|NM_014838.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8916,0.9352,0.8877,0.92,0.98,0.90,,,,,,,,,,,,,,,,
synonymous_variant,ZBED4,SILENT,NM_014838.2:p.Pro376Pro/c.1128A>G,ccA/ccG,LOW,COSM4156405(1),0.934305,0.9464,rs910798,,,,,,chr22,50278438,50278438,A,G,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro376Pro/c.1128A>G|1171|ZBED4|protein_coding|CODING|NM_014838.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.8926,0.9323,0.8877,0.92,0.98,0.90,,,,,,,,,,,,,,,,
missense_variant,ZBED4,MISSENSE,NM_014838.2:p.Ile420Val/c.1258A>G,Ata/Gta,MODERATE,COSM4156406(1),0.617812,0.8264,rs910799,0.99(T),0.0(B),0.41(N),-0.9325(T),,chr22,50278568,50278568,A,G,hom,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile420Val/c.1258A>G|1171|ZBED4|protein_coding|CODING|NM_014838.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6544,0.8242,0.8022,0.63,0.29,0.80,,0.806631(N),1.000(P),0.98(T),0.0000(T),0.007,-1.643533,5.08,0.478,-0.733000,0.044000,1.047000,0.001000,0.000000,0.011000,2.0173
synonymous_variant,ZBED4,SILENT,NM_014838.2:p.Gly444Gly/c.1332C>T,ggC/ggT,LOW,COSM4156407(1),0.60024,0.8244,rs910800,,,,,,chr22,50278642,50278642,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly444Gly/c.1332C>T|1171|ZBED4|protein_coding|CODING|NM_014838.2|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.591,0.8213,0.7922,0.62,0.29,0.79,,,,,,,,,,,,,,,,
synonymous_variant,ZBED4,SILENT,NM_014838.2:p.Ala942Ala/c.2826T>C,gcT/gcC,LOW,,0.590056,0.8264,rs386599915,,,,,,chr22,50280136,50280136,T,C,hom,synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala942Ala/c.2826T>C|1171|ZBED4|protein_coding|CODING|NM_014838.2|2|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5368,0.8199,0.7932,0.62,0.29,0.79,,,,,,,,,,,,,,,,
synonymous_variant,CRELD2,SILENT,NM_001135101.2:p.Ala387Ala/c.1161C>T,gcC/gcT,LOW,,,,,,,,,,chr22,50320907,50320907,C,T,het,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala387Ala/c.1161C>T|402|CRELD2|protein_coding|CODING|NM_001135101.2|11|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala310Ala/c.930C>T|325|CRELD2|protein_coding|CODING|NM_001284317.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala306Ala/c.918C>T|321|CRELD2|protein_coding|CODING|NM_001284318.1|9|1),synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala338Ala/c.1014C>T|353|CRELD2|protein_coding|CODING|NM_024324.4|10|1),non_coding_exon_variant(MODIFIER|||n.1297C>T||CRELD2||CODING|NR_104295.1|10|1)","CD4:H4K91ac,HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,PIM3,SILENT,NM_001001852.3:p.Ala44Ala/c.132C>A,gcC/gcA,LOW,COSM3759281(2),0.371805,0.3383,rs11541025,,,,,,chr22,50354819,50354819,C,A,het,"synonymous_variant(LOW|SILENT|gcC/gcA|p.Ala44Ala/c.132C>A|326|PIM3|protein_coding|CODING|NM_001001852.3|2|1),upstream_gene_variant(MODIFIER||1695|||MIR6821||NON_CODING|NR_106879.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:Max,K562:H3K4me3,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,H1ESC:H3K27me3,GM12878:H3K79me2,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K36me3,HepG2:H3K9ac,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.5542,0.2867,0.2922,0.32,0.34,0.31,,,,,,,,,,,,,,,,
missense_variant,PIM3,MISSENSE,NM_001001852.3:p.Val300Ala/c.899T>C,gTc/gCc,MODERATE,COSM445150(2),0.72504,0.7778,rs4077129,0.91(T),0.001(B),0(N),-0.9826(T),,chr22,50356693,50356693,T,C,het,"missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val300Ala/c.899T>C|326|PIM3|protein_coding|CODING|NM_001001852.3|6|1),downstream_gene_variant(MODIFIER||106|||MIR6821||NON_CODING|NR_106879.1||1)","NHEK:H3K9ac,NHEK:H3K27ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,NH-A:H3K36me3,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,HepG2:H3K27ac,GM12878:H3K79me2,HMEC:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,HepG2:PolII,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,CD4:H2BK5me1,HeLa-S3:PolII,HeLa-S3:H3K27ac,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,CD4:PolII,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.5133,0.817,0.7674,0.75,0.76,0.75,,0.810324(N),1.000(P),2.12(T),0.0000(T),0.015,-1.475491,4.69,-1.31,-1.217000,-0.060000,0.398000,0.002000,0.000000,0.000000,4.6066
missense_variant,IL17REL,MISSENSE,NM_001001694.2:p.Leu333Pro/c.998T>C,cTt/cCt,MODERATE,,0.607029,0.5536,rs5771069,0.26(T),0.0(B),0(N),-0.9485(T),,chr22,50435480,50435480,A,G,het,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu333Pro/c.998T>C|336|IL17REL|protein_coding|CODING|NM_001001694.2|14|1),HepG2:H3K27me3,"Ulcerative_colitis,Ulcerative_colitis",,,0.7853,0.4755,0.5209,0.54,0.61,0.50,,,1.000(P),"1.67,1.67(T,T)",0.0000(T),0.021,0.544605,2.79,-4.33,-0.355000,-1.041000,-3.930000,0.075000,0.000000,0.000000,1.356
synonymous_variant,MLC1,SILENT,NM_015166.3:p.Tyr198Tyr/c.594C>T,taC/taT,LOW,COSM4002218(1),0.130591,0.0913,rs6010165,,,,,,chr22,50515273,50515273,G,A,het,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr198Tyr/c.594C>T|377|MLC1|protein_coding|CODING|NM_015166.3|7|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr198Tyr/c.594C>T|377|MLC1|protein_coding|CODING|NM_139202.2|7|1)","NHEK:H3K27me3,HepG2:H3K27me3",,RCV000117625.2,,0.229,0.1585,0.1153,0.11,0.10,0.12,,,,,,,,,,,,,,,,
missense_variant,MLC1,MISSENSE,NM_015166.3:p.Cys171Phe/c.512G>T,tGc/tTc,MODERATE,,0.121605,0.0913,rs6010260,0.04(D),"0.116,0.116,0.116,0.116(B,B,B,B)",1.61(L),-0.7286(T),,chr22,50515843,50515843,C,A,het,"missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys171Phe/c.512G>T|377|MLC1|protein_coding|CODING|NM_015166.3|6|1),missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys171Phe/c.512G>T|377|MLC1|protein_coding|CODING|NM_139202.2|6|1)","NHEK:H3K27me3,HepG2:H3K27me3",,RCV000020714.2|RCV000117624.2,,0.229,0.1571,0.1153,0.10,0.07,0.12,,0.000035(D),0.000(P),"-2.25,-2.25,-2.25,-2.25,-2.25,-2.25,-2.25(D,D,D,D,D,D,D)",0.0082(T),0.269,2.175120,4.38,3.27,0.655000,2.124000,2.112000,0.736000,0.237000,0.967000,10.5524
missense_variant,MOV10L1,MISSENSE,NM_018995.2:p.Thr18Ser/c.52A>T,Acc/Tcc,MODERATE,COSM3759284(5),0.248003,0.255,rs12628964,0.77(T),"0.001,0.001(B,B)",-0.805(N),-1.0792(T),,chr22,50528569,50528569,A,T,het,"missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr18Ser/c.52A>T|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|1|1),missense_variant(MODERATE|MISSENSE|Acc/Tcc|p.Thr18Ser/c.52A>T|1211|MOV10L1|protein_coding|CODING|NM_018995.2|1|1),upstream_gene_variant(MODIFIER||116||1165|MOV10L1|protein_coding|CODING|NM_001164105.1||1)","H1ESC:H3K27me3,H1ESC:DNase1,HUVEC:DNase1,NHEK:H3K27me3",,,,0.3292,0.3818,0.2356,,,,,0.034422(N),1.000(P),"-1.75,-1.75,-1.34(D,D,T)",0.0000(T),0.132,1.780956,4.73,-8.4,-1.098000,-1.708000,-1.754000,0.022000,0.000000,0.000000,0.9037
missense_variant,MOV10L1,MISSENSE,NM_018995.2:p.Met57Leu/c.169A>T,Atg/Ttg,MODERATE,COSM149320(2),0.250599,0.255,rs9617066,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-1.56(N),-1.0570(T),,chr22,50530501,50530501,A,T,het,"missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met57Leu/c.169A>T|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met37Leu/c.109A>T|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|2|1),missense_variant(MODERATE|MISSENSE|Atg/Ttg|p.Met57Leu/c.169A>T|1211|MOV10L1|protein_coding|CODING|NM_018995.2|2|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.3303,0.3833,0.2356,0.21,0.16,0.24,,0.178429(N),1.000(P),"-1.6,-1.6,-1.18,-1.79(D,D,T,D)",0.0000(T),0.08,-0.439463,5.21,-0.971,-0.265000,-0.198000,-1.156000,0.988000,0.117000,0.000000,4.8754
missense_variant,MOV10L1,MISSENSE,NM_018995.2:p.Arg182Cys/c.544C>T,Cgc/Tgc,MODERATE,,0.246805,0.248,rs3810971,0(D),"0.96,0.938,0.912,0.912(D,D,D,D)",2.215(M),-1.0179(T),,chr22,50546666,50546666,C,T,het,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg182Cys/c.544C>T|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg162Cys/c.484C>T|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|4|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg182Cys/c.544C>T|1211|MOV10L1|protein_coding|CODING|NM_018995.2|4|1)",HepG2:H3K27me3,,,,0.3292,0.3833,0.2346,0.21,0.15,0.24,,0.000001(D),0.000(P),"0.91,0.91,0.91,0.91(T,T,T,T)",0.0000(T),0.497,3.570145,5.28,4.2,0.644000,2.480000,2.470000,0.563000,0.951000,1.000000,10.4014
synonymous_variant,MOV10L1,SILENT,NM_018995.2:p.Ala239Ala/c.717A>G,gcA/gcG,LOW,,0.996206,1,rs138217,,,,,,chr22,50547247,50547247,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala239Ala/c.717A>G|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala219Ala/c.657A>G|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|5|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala239Ala/c.717A>G|1211|MOV10L1|protein_coding|CODING|NM_018995.2|5|1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.9969,0.9957,0.9881,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,MOV10L1,SILENT,NM_018995.2:p.Leu431Leu/c.1293C>T,ctC/ctT,LOW,,0.930511,0.9087,rs138222,,,,,,chr22,50555619,50555619,C,T,hom,"synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu431Leu/c.1293C>T|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu411Leu/c.1233C>T|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|9|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu431Leu/c.1293C>T|1211|MOV10L1|protein_coding|CODING|NM_018995.2|9|1)","K562:PolII,HUVEC:H3K36me3,K562:GTF2B,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,K562:DNase1",,,,0.9427,0.9395,0.9046,0.93,0.94,0.92,,,,,,,,,,,,,,,,
missense_variant,MOV10L1,MISSENSE,NM_018995.2:p.Val650Ile/c.1948G>A,Gtc/Atc,MODERATE,COSM149321(1),0.248003,0.254,rs2340601,0.27(T),"0.232,0.117,0.117(B,B,B)",0.895(L),-1.0971(T),,chr22,50572473,50572473,G,A,het,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val650Ile/c.1948G>A|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|14|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val630Ile/c.1888G>A|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|14|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val650Ile/c.1948G>A|1211|MOV10L1|protein_coding|CODING|NM_018995.2|14|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3",,,,0.3282,0.3847,0.2356,0.21,0.15,0.24,,0.001735(N),0.000(P),"-1.79,-1.79,-1.38,-1.98(D,D,T,D)",0.0000(T),0.174,2.518497,5.78,5.78,0.655000,2.730000,4.303000,0.979000,0.011000,0.645000,19.6307
missense_variant,MOV10L1,MISSENSE,NM_018995.2:p.Gln820Arg/c.2459A>G,cAg/cGg,MODERATE,,0.33746,0.5734,rs2272837,0.54(T),"0.001,0.001,0.001(B,B,B)",-0.705(N),-0.9760(T),,chr22,50582626,50582626,A,G,het,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln820Arg/c.2459A>G|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|18|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln800Arg/c.2399A>G|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|18|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln820Arg/c.2459A>G|1211|MOV10L1|protein_coding|CODING|NM_018995.2|18|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:CTCF,HepG2:H3K27me3,H1ESC:CTCF",,,,0.3896,0.402,0.2237,0.22,0.19,0.24,,0.872037(N),1.000(P),"-1.57,-1.57,-1.57,-1.57(D,D,D,D)",0.0000(T),0.053,-0.572018,5.52,-4.18,-0.735000,-0.519000,1.697000,0.008000,0.000000,0.437000,8.6847
synonymous_variant,MOV10L1,SILENT,NM_018995.2:p.Thr863Thr/c.2589A>C,acA/acC,LOW,COSM149322(1),0.25,0.252,rs2272838,,,,,,chr22,50584201,50584201,A,C,het,"synonymous_variant(LOW|SILENT|acA/acC|p.Thr863Thr/c.2589A>C|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|19|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr843Thr/c.2529A>C|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|19|1),synonymous_variant(LOW|SILENT|acA/acC|p.Thr863Thr/c.2589A>C|1211|MOV10L1|protein_coding|CODING|NM_018995.2|19|1),upstream_gene_variant(MODIFIER||1283||338|MOV10L1|protein_coding|CODING|NM_001164106.1||1)","HepG2:H3K4me2,HUVEC:H3K36me3,HepG2:PolII,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:HNF4A,HepG2:DNase1",,,,0.3303,0.3934,0.2376,0.21,0.15,0.24,,,,,,,,,,,,,,,,
synonymous_variant,MOV10L1,SILENT,NM_018995.2:p.Asp905Asp/c.2715C>T,gaC/gaT,LOW,,0.127995,0.0109,rs138271,,,,,,chr22,50588131,50588131,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp905Asp/c.2715C>T|1165|MOV10L1|protein_coding|CODING|NM_001164104.1|20|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp885Asp/c.2655C>T|1165|MOV10L1|protein_coding|CODING|NM_001164105.1|20|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp32Asp/c.96C>T|338|MOV10L1|protein_coding|CODING|NM_001164106.1|2|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp905Asp/c.2715C>T|1211|MOV10L1|protein_coding|CODING|NM_018995.2|20|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.1554,0.1974,0.2823,0.25,0.09,0.32,,,,,,,,,,,,,,,,
synonymous_variant,PANX2,SILENT,NM_052839.3:p.Pro505Pro/c.1515T>C,ccT/ccC,LOW,COSM3749774(11),0.860024,0.6577,rs7286904,,,,,,chr22,50616656,50616656,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro505Pro/c.1515T>C|643|PANX2|protein_coding|CODING|NM_001160300.1|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro505Pro/c.1515T>C|677|PANX2|protein_coding|CODING|NM_052839.3|2|1),non_coding_exon_variant(MODIFIER|||n.1566T>C||PANX2||CODING|NR_027691.1|3|1)","H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3",,,,0.9151,0.7579,0.9066,0.94,0.98,0.93,,,,,,,,,,,,,,,,
synonymous_variant,PANX2,SILENT,NM_052839.3:p.Leu555Leu/c.1665A>G,ctA/ctG,LOW,COSM3749777(10),0.560903,0.5188,rs5771206,,,,,,chr22,50616806,50616806,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu555Leu/c.1665A>G|643|PANX2|protein_coding|CODING|NM_001160300.1|2|1),synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu555Leu/c.1665A>G|677|PANX2|protein_coding|CODING|NM_052839.3|2|1),non_coding_exon_variant(MODIFIER|||n.1716A>G||PANX2||CODING|NR_027691.1|3|1)","H1ESC:DNase1,HUVEC:DNase1,IMR90:H3K36me3",,,,0.5706,0.5504,0.6461,,,,,,,,,,,,,,,,,,,
missense_variant,SELO,MISSENSE,NM_031454.1:p.Val3Ala/c.8T>C,gTa/gCa,MODERATE,,0.642971,0.5397,rs5771225,1(T),0.0(B),0.55(N),-0.9511(T),,chr22,50639473,50639473,T,C,het,"missense_variant(MODERATE|MISSENSE|gTa/gCa|p.Val3Ala/c.8T>C|669|SELO|protein_coding|CODING|NM_031454.1|1|1),downstream_gene_variant(MODIFIER||1446||376|TRABD|protein_coding|CODING|NM_025204.2||1)","H1ESC:PolII,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,K562:SP2,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:DNase1,HSMM:DNase1,K562:Gabp,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,GM12878:Pbx3,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6933,0.5231,0.5368,,,,,0.667275(N),1.000(P),2.3(T),0.0000(T),0.072,-0.227142,3.33,-1.84,-0.684000,-0.433000,-1.148000,0.001000,0.000000,0.000000,1.8333
synonymous_variant,SELO,SILENT,NM_031454.1:p.Gly21Gly/c.63T>C,ggT/ggC,LOW,,0.643171,0.5397,rs5771226,,,,,,chr22,50639528,50639528,T,C,het,"synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly21Gly/c.63T>C|669|SELO|protein_coding|CODING|NM_031454.1|1|1),downstream_gene_variant(MODIFIER||1501||376|TRABD|protein_coding|CODING|NM_025204.2||1)","H1ESC:PolII,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,K562:SP2,H1ESC:H3K27me3,GM12878:SIX5,IMR90:DNase1,H1ESC:DNase1,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,HSMM:DNase1,K562:Gabp,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,K562:ELF1,GM12878:PolII,HepG2:H3K4me3,K562:Yy1,CD4:PolII,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,GM12878:Sin3Ak20",,,,0.6943,0.5231,0.5368,,,,,,,,,,,,,,,,,,,
synonymous_variant,SELO,SILENT,NM_031454.1:p.Ala57Ala/c.171C>G,gcC/gcG,LOW,,0.607827,0.5397,rs6010201,,,,,,chr22,50639636,50639636,C,G,het,"synonymous_variant(LOW|SILENT|gcC/gcG|p.Ala57Ala/c.171C>G|669|SELO|protein_coding|CODING|NM_031454.1|1|1),downstream_gene_variant(MODIFIER||1609||376|TRABD|protein_coding|CODING|NM_025204.2||1)","H1ESC:PolII,HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,GM12878:Gabp,HeLa-S3:H3K9ac,HUVEC:PolII,H1ESC:H3K27me3,H1ESC:DNase1,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,K562:Gabp,K562:E2F6,HeLa-S3:Gabp,HeLa-S3:PolII,GM12878:PolII,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM12878:DNase1,HepG2:Yy1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.6943,0.5072,0.5368,,,,,,,,,,,,,,,,,,,
synonymous_variant,SELO,SILENT,NM_031454.1:p.Leu105Leu/c.313T>C,Ttg/Ctg,LOW,,0.608427,0.5397,rs3747942,,,,,,chr22,50639778,50639778,T,C,het,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu105Leu/c.313T>C|669|SELO|protein_coding|CODING|NM_031454.1|1|1),downstream_gene_variant(MODIFIER||1751||376|TRABD|protein_coding|CODING|NM_025204.2||1)","HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Gabp,K562:E2F6,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6,GM12878:Sin3Ak20",,,,0.6943,0.5072,0.5388,,,,,,,,,,,,,,,,,,,
missense_variant,SELO,MISSENSE,NM_031454.1:p.Thr167Asn/c.500C>A,aCc/aAc,MODERATE,,0.607827,0.5397,rs2272846,0.5(T),0.043(B),-0.02(N),-0.9904(T),,chr22,50639965,50639965,C,A,het,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr167Asn/c.500C>A|669|SELO|protein_coding|CODING|NM_031454.1|1|1),downstream_gene_variant(MODIFIER||1938||376|TRABD|protein_coding|CODING|NM_025204.2||1)","HepG2:Gabp,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H4K20me1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:Gabp,K562:E2F6,HepG2:H3K4me3,HepG2:TAF1,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,HeLa-S3:E2F6",,,,0.6933,0.5072,0.5368,,,,,0.284018(U),1.000(P),1.16(T),0.0000(T),0.104,-0.134015,3.29,-0.906,-0.499000,0.074000,1.155000,0.110000,0.882000,0.993000,10.6941
missense_variant,TUBGCP6,MISSENSE,NM_020461.3:p.Val1621Leu/c.4861G>C,Gtg/Ctg,MODERATE,,0.998802,1,rs4838864,1(T),"0.003,0.002(B,B)",-1.795(N),-1.0162(T),,chr22,50657010,50657010,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val1621Leu/c.4861G>C|1819|TUBGCP6|protein_coding|CODING|NM_020461.3|22|1),downstream_gene_variant(MODIFIER||965||669|SELO|protein_coding|CODING|NM_031454.1||1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,0.9971,0.996,0.99,1.00,0.99,,0.004437(N),0.000(P),"3.43,3.43(T,T)",0.0000(T),0.129,-0.148281,5.16,1.61,-0.187000,0.194000,2.408000,0.826000,1.000000,1.000000,1.927
missense_variant,TUBGCP6,MISSENSE,NM_020461.3:p.Thr1377Ala/c.4129A>G,Act/Gct,MODERATE,COSM4156444(1),0.427117,0.3948,rs11703226,0.77(T),"0.016,0.01,0.006(B,B,B)",0.11(N),-0.9211(T),,chr22,50658424,50658424,T,C,hom,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr1377Ala/c.4129A>G|1819|TUBGCP6|protein_coding|CODING|NM_020461.3|17|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3824,0.4481,0.4414,0.46,0.49,0.44,,0.000517(N),1.000(P),"3.14,2.07(T,T)",0.0000(T),0.041,1.046404,5.31,-1.43,-0.441000,0.022000,0.876000,0.022000,0.001000,0.118000,0.8927
missense_variant,TUBGCP6,MISSENSE,NM_020461.3:p.Ser1364Cys/c.4090A>T,Agt/Tgt,MODERATE,,0.161542,0.255,rs5771107,0.2(T),"0.815,0.86,0.719(P,P,P)",1.15(L),-0.9683(T),,chr22,50658698,50658698,T,A,het,missense_variant(MODERATE|MISSENSE|Agt/Tgt|p.Ser1364Cys/c.4090A>T|1819|TUBGCP6|protein_coding|CODING|NM_020461.3|16|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.18,0.1354,0.164,0.13,0.08,0.15,,0.067092(U),1.000(P),"3.04,1.85,2.58(T,T,T)",0.0000(T),0.095,2.279751,5.11,-10.2,-1.044000,-2.434000,-5.043000,0.004000,0.000000,0.000000,6.016
missense_variant,TUBGCP6,MISSENSE,NM_020461.3:p.Leu567Ser/c.1700T>C,tTg/tCg,MODERATE,,0.858826,0.8492,rs4838865,0.43(T),"0.007,0.007(B,B)",-0.69(N),-1.0687(T),,chr22,50664612,50664612,A,G,hom,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu567Ser/c.1700T>C|1819|TUBGCP6|protein_coding|CODING|NM_020461.3|9|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9018,0.6902,0.7773,0.82,0.95,0.76,,0.603642(N),1.000(P),"3.31,3.31(T,T)",0.0000(T),0.029,-0.852497,5.17,-5.69,-2.253000,-1.647000,0.685000,0.003000,0.001000,0.426000,4.4321
synonymous_variant,TUBGCP6,SILENT,NM_020461.3:p.Phe8Phe/c.24C>T,ttC/ttT,LOW,COSM445163(1),0.28155,0.3562,rs5771270,,,,,,chr22,50682865,50682865,G,A,het,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe8Phe/c.24C>T|1819|TUBGCP6|protein_coding|CODING|NM_020461.3|1|1),downstream_gene_variant(MODIFIER||748||649|HDAC10|protein_coding|CODING|NM_001159286.1||1),downstream_gene_variant(MODIFIER||748||669|HDAC10|protein_coding|CODING|NM_032019.5||1)","NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HepG2:H3K4me2,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HSMM:H3K4me2,H1ESC:H3K4me2,HUVEC:H3K9ac,IMR90:H3K4me2,GM12878:H3K79me2,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,CD4:H4K20me1,HMEC:H3K4me2,GM12878:ELF1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,NH-A:DNase1,HSMM:DNase1,HSMM:H3K9ac,HUVEC:H3K4me2,GM12878:Pbx3,K562:H3K9ac,GM12878:PolII,K562:ELF1,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,CD4:H3K9ac,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.3763,0.2478,0.4026,0.30,0.14,0.39,,,,,,,,,,,,,,,,
synonymous_variant,HDAC10,SILENT,NM_032019.5:p.Cys145Cys/c.435T>C,tgT/tgC,LOW,,0.871406,0.8671,rs1555048,,,,,,chr22,50688348,50688348,A,G,het,"synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys145Cys/c.435T>C|649|HDAC10|protein_coding|CODING|NM_001159286.1|5|1),synonymous_variant(LOW|SILENT|tgT/tgC|p.Cys145Cys/c.435T>C|669|HDAC10|protein_coding|CODING|NM_032019.5|5|1)","K562:PolII,HUVEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,CD4:H3K4me1,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9172,0.83,0.7078,0.79,0.94,0.71,,,,,,,,,,,,,,,,
synonymous_variant,MAPK12,SILENT,NM_002969.3:p.Ser211Ser/c.633T>C,tcT/tcC,LOW,COSM3759292(1),0.844649,0.869,rs1129880,,,,,,chr22,50694297,50694297,A,G,het,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser211Ser/c.633T>C|367|MAPK12|protein_coding|CODING|NM_002969.3|8|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9162,0.8127,0.6998,0.76,0.86,0.70,,,,,,,,,,,,,,,,
synonymous_variant,MAPK12,SILENT,NM_002969.3:p.Pro61Pro/c.183T>C,ccT/ccC,LOW,COSM1484338(1),0.671126,0.5645,rs2272857,,,,,,chr22,50699668,50699668,A,G,het,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro61Pro/c.183T>C|367|MAPK12|protein_coding|CODING|NM_002969.3|2|1),"K562:Max,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:PolII,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:H3K27me3,IMR90:DNase1,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,K562:E2F6,HeLa-S3:PolII,IMR90:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,HSMM:H3K4me3,HeLa-S3:E2F1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6718,0.7493,0.7445,0.74,0.68,0.77,,,,,,,,,,,,,,,,
synonymous_variant,MAPK11,SILENT,NM_002751.6:p.Ser252Ser/c.756A>G,tcA/tcG,LOW,COSM1751941(1),0.686901,0.5724,rs2076139,,,,,,chr22,50704661,50704661,T,C,het,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser252Ser/c.756A>G|364|MAPK11|protein_coding|CODING|NM_002751.6|9|1),non_coding_exon_variant(MODIFIER|||n.857A>G||MAPK11||CODING|NR_110887.1|9|1)","HUVEC:H3K36me3,H1ESC:H3K27me3,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.681,0.7507,0.7435,0.75,0.72,0.76,,,,,,,,,,,,,,,,
synonymous_variant,MAPK11,SILENT,NM_002751.6:p.Phe169Phe/c.507T>C,ttT/ttC,LOW,,0.999002,1,rs760748,,,,,,chr22,50705466,50705466,A,G,hom,"synonymous_variant(LOW|SILENT|ttT/ttC|p.Phe169Phe/c.507T>C|364|MAPK11|protein_coding|CODING|NM_002751.6|7|1),non_coding_exon_variant(MODIFIER|||n.608T>C||MAPK11||CODING|NR_110887.1|7|1)","H1ESC:H3K27me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,1,0.9986,0.996,1.00,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,PLXNB2,SILENT,NM_012401.3:p.Pro1305Pro/c.3915T>C,ccT/ccC,LOW,COSM3759294(3),0.616414,0.6111,rs11547734,,,,,,chr22,50719251,50719251,A,G,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro1305Pro/c.3915T>C|1838|PLXNB2|protein_coding|CODING|NM_012401.3|24|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6472,0.5317,0.5875,0.61,0.64,0.59,,,,,,,,,,,,,,,,
synonymous_variant,PLXNB2,SILENT,NM_012401.3:p.Gln1036Gln/c.3108G>A,caG/caA,LOW,COSM3759295(3),0.381589,0.2688,rs11547728,,,,,,chr22,50720622,50720622,C,T,hom,synonymous_variant(LOW|SILENT|caG/caA|p.Gln1036Gln/c.3108G>A|1838|PLXNB2|protein_coding|CODING|NM_012401.3|19|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,H1ESC:DNase1,HMEC:H3K4me2,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.5317,0.3112,0.4791,0.43,0.34,0.47,,,,,,,,,,,,,,,,
missense_variant,PLXNB2,MISSENSE,NM_012401.3:p.Ile823Val/c.2467A>G,Atc/Gtc,MODERATE,COSM445170(7),0.654353,0.5813,rs11547731,0.11(T),0.998(D),2.295(M),-0.9424(T),,chr22,50722134,50722134,T,C,hom,missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile823Val/c.2467A>G|1838|PLXNB2|protein_coding|CODING|NM_012401.3|15|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6728,0.5548,0.6392,0.68,0.76,0.65,,0.014301(N),0.003(P),"-0.09,-0.09(T,T)",0.0000(T),0.131,3.074368,4.22,4.22,0.397000,1.780000,2.064000,0.380000,0.995000,1.000000,11.3529
missense_variant,PLXNB2,MISSENSE,NM_012401.3:p.Asn759Asp/c.2275A>G,Aac/Gac,MODERATE,COSM304162(3),0.0744808,0.0694,rs79966207,0.45(T),0.354(B),1.18(L),-0.7463(T),,chr22,50722408,50722408,T,C,het,missense_variant(MODERATE|MISSENSE|Aac/Gac|p.Asn759Asp/c.2275A>G|1838|PLXNB2|protein_coding|CODING|NM_012401.3|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HUVEC:DNase1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.0583,0.0893,0.175,0.11,0.03,0.16,,0.000272(D),0.000(P),"4.0,4.0(T,T)",0.0000(T),0.031,1.392764,4.52,4.52,0.398000,1.899000,3.062000,0.851000,1.000000,1.000000,11.8308
missense_variant,PLXNB2,MISSENSE,NM_012401.3:p.Lys318Glu/c.952A>G,Aag/Gag,MODERATE,COSM3759297(3),0.454073,0.5734,rs28379706,1(T),0.002(B),-0.805(N),-0.9813(T),,chr22,50728062,50728062,T,C,het,missense_variant(MODERATE|MISSENSE|Aag/Gag|p.Lys318Glu/c.952A>G|1838|PLXNB2|protein_coding|CODING|NM_012401.3|3|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1902,0.2666,0.3996,0.45,0.61,0.38,,0.985111(N),1.000(P),"3.69,3.69,3.69(T,T,T)",0.0000(T),0.013,-2.194844,4.75,-1.27,-0.215000,-0.271000,-0.279000,0.003000,0.001000,0.000000,6.7594
synonymous_variant,DENND6B,SILENT,NM_001001794.3:p.Pro452Pro/c.1356C>G,ccC/ccG,LOW,COSM1417088(2),0.30651,0.2669,rs67248662,,,,,,chr22,50751529,50751529,G,C,het,synonymous_variant(LOW|SILENT|ccC/ccG|p.Pro452Pro/c.1356C>G|585|DENND6B|protein_coding|CODING|NM_001001794.3|17|1),"IMR90:H3K36me3,GM06990:H3K36me3",,,,0.4407,0.3242,0.2962,0.26,0.22,0.28,,,,,,,,,,,,,,,,
missense_variant,DENND6B,MISSENSE,NM_001001794.3:p.Val403Met/c.1207G>A,Gtg/Atg,MODERATE,COSM4156452(1),0.28095,0.1994,rs68178377,0.31(T),"0.004,0.006(B,B)",0.395(N),-0.9621(T),,chr22,50752150,50752150,C,T,het,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val403Met/c.1207G>A|585|DENND6B|protein_coding|CODING|NM_001001794.3|15|1),"GM12878:H3K4me3,GM06990:H3K4me3,GM12878:H3K4me2",,,,0.4376,0.3199,0.2922,0.27,0.20,0.30,,0.126460(N),1.000(P),,0.0000(T),0.023,1.154751,4.82,-2.63,0.462000,-0.577000,0.249000,0.733000,0.032000,0.041000,6.125
synonymous_variant,DENND6B,SILENT,NM_001001794.3:p.Leu259Leu/c.775C>T,Ctg/Ttg,LOW,COSM4156453(1),0.3752,0.2956,rs73439311,,,,,,chr22,50753334,50753334,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu259Leu/c.775C>T|585|DENND6B|protein_coding|CODING|NM_001001794.3|10|1),"CD4:H3K9me1,HepG2:H3K4me2,CD4:H2BK5ac,GM12878:H3K4me3,CD4:H4K91ac,GM12878:BATF,GM12878:H3K27ac,H1ESC:H3K27me3,CD4:H4K8ac,GM12878:ELF1,GM12878:Yy1,GM06990:H3K4me3,HUVEC:DNase1,GM12878:EBF,NHEK:H3K27me3,CD4:H3K4me1,GM12878:PolII,HepG2:H3K4me3,CD4:H2BK120ac,GM12878:H3K9ac,GM12878:DNase1,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,GM06990:DNase1,GM12878:Tcf12,GM12878:H2AZ",,,,0.5798,0.3746,0.3767,0.35,0.28,0.38,,,,,,,,,,,,,,,,
synonymous_variant,DENND6B,SILENT,NM_001001794.3:p.Gln230Gln/c.690G>A,caG/caA,LOW,,0.34405,0.2679,rs62241230,,,,-0.9626(T),,chr22,50754466,50754466,C,T,het,synonymous_variant(LOW|SILENT|caG/caA|p.Gln230Gln/c.690G>A|585|DENND6B|protein_coding|CODING|NM_001001794.3|8|1),"CD4:H4K91ac,NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.5695,0.3429,0.3241,0.31,0.25,0.34,,,0.000(P),,0.0000(T),.,-1.135026,4.6,2.45,0.491000,1.158000,1.553000,0.032000,0.423000,0.944000,7.1472
synonymous_variant,DENND6B,SILENT,NM_001001794.3:p.Ala198Ala/c.594A>G,gcA/gcG,LOW,COSM445173(2),,,rs11553141,,,,-0.9117(T),,chr22,50754648,50754648,T,C,het,synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala198Ala/c.594A>G|585|DENND6B|protein_coding|CODING|NM_001001794.3|7|1),"NHEK:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,,,,0.46,0.56,0.42,,,0.000(P),,0.0000(T),.,-0.814211,4.97,1.42,-2.888000,-0.303000,-0.015000,0.092000,0.008000,0.002000,7.78
synonymous_variant,PPP6R2,SILENT,NM_001242898.1:p.Ala701Ala/c.2103G>C,gcG/gcC,LOW,COSM3759299(1),0.669129,0.9345,rs4824131,,,,,,chr22,50877166,50877166,G,C,het,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala701Ala/c.2103G>C|959|PPP6R2|protein_coding|CODING|NM_001242898.1|19|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala675Ala/c.2025G>C|933|PPP6R2|protein_coding|CODING|NM_001242899.1|18|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala674Ala/c.2022G>C|927|PPP6R2|protein_coding|CODING|NM_001242900.1|18|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala674Ala/c.2022G>C|932|PPP6R2|protein_coding|CODING|NM_014678.4|18|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.6176,0.7478,0.661,0.59,0.49,0.64,,,,,,,,,,,,,,,,
synonymous_variant,PPP6R2,SILENT,NM_001242898.1:p.Ala857Ala/c.2571T>G,gcT/gcG,LOW,COSM4156458(1),0.167931,0.252,rs2273260,,,,,,chr22,50879447,50879447,T,G,het,"synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala857Ala/c.2571T>G|959|PPP6R2|protein_coding|CODING|NM_001242898.1|22|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala831Ala/c.2493T>G|933|PPP6R2|protein_coding|CODING|NM_001242899.1|21|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala831Ala/c.2493T>G|927|PPP6R2|protein_coding|CODING|NM_001242900.1|21|1),synonymous_variant(LOW|SILENT|gcT/gcG|p.Ala830Ala/c.2490T>G|932|PPP6R2|protein_coding|CODING|NM_014678.4|21|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,H1ESC:DNase1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1063,0.2248,0.1909,0.15,0.11,0.17,,,,,,,,,,,,,,,,
synonymous_variant,SBF1,SILENT,NM_002972.2:p.Thr1853Thr/c.5559T>C,acT/acC,LOW,,0.500998,0.4673,rs1053744,,,,-0.9232(T),,chr22,50885775,50885775,A,G,het,synonymous_variant(LOW|SILENT|acT/acC|p.Thr1853Thr/c.5559T>C|1893|SBF1|protein_coding|CODING|NM_002972.2|40|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.4642,0.5389,0.5577,0.52,0.49,0.54,,,0.000(P),,0.0000(T),.,0.217273,3.17,-2.66,-0.609000,-0.623000,0.012000,0.493000,0.991000,0.534000,6.3706
missense_variant,SBF1,MISSENSE,NM_002972.2:p.Tyr1353Cys/c.4058A>G,tAt/tGt,MODERATE,,,,rs373208315,0(D),"0.757,0.487(P,P)",2.88(M),0.7853(D),,chr22,50894949,50894949,T,C,het,missense_variant(MODERATE|MISSENSE|tAt/tGt|p.Tyr1353Cys/c.4058A>G|1893|SBF1|protein_coding|CODING|NM_002972.2|30|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,0.010666(N),1.000(D),"-2.61,-2.61,-2.61(D,D,D)",0.7957(D),0.864,1.316246,5.02,5.02,0.454000,2.132000,5.596000,0.004000,0.998000,1.000000,14.6115
synonymous_variant,MIOX,SILENT,NM_017584.5:p.Asp90Asp/c.270C>T,gaC/gaT,LOW,,0.00838658,0,rs2232882,,,,,,chr22,50926407,50926407,C,T,het,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp90Asp/c.270C>T|285|MIOX|protein_coding|CODING|NM_017584.5|4|1),downstream_gene_variant(MODIFIER||1541||148|ADM2|protein_coding|CODING|NM_001253845.1||1),downstream_gene_variant(MODIFIER||1541||148|ADM2|protein_coding|CODING|NM_024866.5||1)","NHEK:H3K27me3,HepG2:H3K27me3",,,,0.0102,0.0086,0.0258,0.01,0.00,0.02,,,,,,,,,,,,,,,,
synonymous_variant,MIOX,SILENT,NM_017584.5:p.Leu234Leu/c.702G>A,ctG/ctA,LOW,COSM1751949(2),0.197484,0.3125,rs2232885,,,,,,chr22,50928026,50928026,G,A,het,synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu234Leu/c.702G>A|285|MIOX|protein_coding|CODING|NM_017584.5|9|1),,,,,0.1493,0.2176,0.2137,0.19,0.15,0.22,,,,,,,,,,,,,,,,
synonymous_variant,LMF2,SILENT,NM_033200.2:p.Gln653Gln/c.1959A>G,caA/caG,LOW,COSM3759302(2),0.838059,0.753,rs6009975,,,,-1.0374(T),,chr22,50941985,50941985,T,C,hom,synonymous_variant(LOW|SILENT|caA/caG|p.Gln653Gln/c.1959A>G|707|LMF2|protein_coding|CODING|NM_033200.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.7249,0.8573,0.9384,0.91,0.91,0.91,,,1.000(P),,0.0000(T),.,0.376383,5.36,-0.663,-1.551000,-0.108000,-0.216000,0.004000,0.026000,0.724000,5.085
missense_variant,LMF2,MISSENSE,NM_033200.2:p.Ser608Asn/c.1823G>A,aGc/aAc,MODERATE,COSM3759303(3),0.138578,0.0417,rs13056405,0.45(T),"0.004,0.004(B,B)",2.015(M),-1.0306(T),,chr22,50942121,50942121,C,T,hom,missense_variant(MODERATE|MISSENSE|aGc/aAc|p.Ser608Asn/c.1823G>A|707|LMF2|protein_coding|CODING|NM_033200.2|14|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1217,0.1369,0.2227,0.20,0.15,0.22,,0.175437(N),0.999(P),"1.4,1.87,1.86(T,T,T)",0.0000(T),0.145,0.480878,5.33,0.458,-0.143000,0.311000,0.491000,0.073000,0.943000,0.117000,5.4231
synonymous_variant,LMF2,SILENT,NM_033200.2:p.Leu530Leu/c.1590G>T,ctG/ctT,LOW,COSM4156464(1),0.142572,0.0397,rs762671,,,,-1.0641(T),,chr22,50943004,50943004,C,A,hom,synonymous_variant(LOW|SILENT|ctG/ctT|p.Leu530Leu/c.1590G>T|707|LMF2|protein_coding|CODING|NM_033200.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.1398,0.2326,0.21,0.16,0.23,,,0.000(P),,0.0001(T),.,1.235038,5.63,3.31,0.643000,1.351000,2.217000,0.982000,1.000000,1.000000,10.3398
synonymous_variant,LMF2,SILENT,NM_033200.2:p.Arg528Arg/c.1584C>T,cgC/cgT,LOW,COSM3759304(2),0.142572,0.0397,rs762670,,,,-1.0673(T),,chr22,50943010,50943010,G,A,hom,synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg528Arg/c.1584C>T|707|LMF2|protein_coding|CODING|NM_033200.2|11|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1288,0.1398,0.2326,0.21,0.16,0.23,,,0.000(P),,0.0001(T),.,1.588451,5.46,2.13,0.643000,0.233000,0.693000,0.984000,0.983000,1.000000,9.5897
missense_variant,LMF2,MISSENSE,NM_033200.2:p.Thr479Met/c.1436C>T,aCg/aTg,MODERATE,COSM3759305(2),0.141973,0.0387,rs8136495,0.07(T),"0.225,0.202(B,B)",1.825(L),-1.0306(T),,chr22,50943232,50943232,G,A,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr479Met/c.1436C>T|707|LMF2|protein_coding|CODING|NM_033200.2|10|1),splice_region_variant(LOW|||c.1436C>T|707|LMF2|protein_coding|CODING|NM_033200.2|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H2BK5me1,NHEK:H3K36me3,HMEC:H3K4me1,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.1299,0.1398,0.2316,0.21,0.16,0.23,,0.001725(N),0.000(P),"1.89,1.89(T,T)",0.0000(T),0.415,1.889841,4.85,1.58,-0.122000,0.120000,2.881000,0.238000,0.765000,1.000000,5.9129
synonymous_variant,LMF2,SILENT,NM_033200.2:p.Pro101Pro/c.303T>C,ccT/ccC,LOW,COSM1751950(3),0.320687,0.0377,rs131824,,,,-0.9146(T),,chr22,50945256,50945256,A,G,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro101Pro/c.303T>C|707|LMF2|protein_coding|CODING|NM_033200.2|2|1),upstream_gene_variant(MODIFIER||1389||606|NCAPH2|protein_coding|CODING|NM_001185011.1||1),upstream_gene_variant(MODIFIER||1389||299|NCAPH2|protein_coding|CODING|NM_014551.4||1),upstream_gene_variant(MODIFIER||1389||605|NCAPH2|protein_coding|CODING|NM_152299.3||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K4me2,GM12878:H3K79me2,CD4:H4K20me1,HMEC:H3K4me2,GM06990:H3K4me3,NH-A:H3K4me3,IMR90:H3K36me3,CD4:H2BK5me1,HUVEC:H3K4me2,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,CD4:H3K4me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.2546,0.3069,0.4185,0.44,0.48,0.42,,,1.000(P),,0.0000(T),.,-0.296187,4.37,-2.61,-1.769000,-0.490000,-0.755000,0.003000,0.000000,0.000000,1.9743
synonymous_variant,KLHDC7B,SILENT,NM_138433.3:p.Val489Val/c.1467G>T,gtG/gtT,LOW,COSM3759310(1),0.405152,0.5784,rs140519,,,,,,chr22,50988062,50988062,G,T,het,"synonymous_variant(LOW|SILENT|gtG/gtT|p.Val489Val/c.1467G>T|594|KLHDC7B|protein_coding|CODING|NM_138433.3|1|1),downstream_gene_variant(MODIFIER||1479||88|SYCE3|protein_coding|CODING|NM_001123225.1||1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,CD4:H3K4me1,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.3978,0.4366,0.495,0.40,0.23,0.48,,,,,,,,,,,,,,,,
missense_variant,KLHDC7B,MISSENSE,NM_138433.3:p.His533Arg/c.1598A>G,cAc/cGc,MODERATE,COSM445185(2),0.580272,0.5942,rs131779,0.42(T),0.001(B),-0.84(N),-1.0298(T),,chr22,50988193,50988193,A,G,het,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His533Arg/c.1598A>G|594|KLHDC7B|protein_coding|CODING|NM_138433.3|1|1),downstream_gene_variant(MODIFIER||1348||88|SYCE3|protein_coding|CODING|NM_001123225.1||1)","HUVEC:H3K27me3,H1ESC:H3K27me3,NH-A:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.5552,0.5288,0.6421,0.62,0.58,0.65,,0.079762(N),0.891(P),2.64(T),0.0000(T),0.046,-1.806562,5.45,3.31,-0.320000,0.244000,3.906000,0.013000,0.311000,0.998000,8.3074
missense_variant,CPT1B,MISSENSE,NM_001145135.1:p.Glu531Lys/c.1591G>A,Gag/Aag,MODERATE,,0.334864,0.4593,rs470117,0.15(T),"0.503,0.094,0.311(P,B,B)",2.155(M),-1.1180(T),,chr22,51009953,51009953,C,T,het,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu497Lys/c.1489G>A|738|CPT1B|protein_coding|CODING|NM_001145134.1|13|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu531Lys/c.1591G>A|772|CPT1B|protein_coding|CODING|NM_001145135.1|14|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu450Lys/c.1348G>A|691|CPT1B|protein_coding|CODING|NM_001145136.1|14|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu531Lys/c.1591G>A|772|CPT1B|protein_coding|CODING|NM_001145137.1|13|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu531Lys/c.1591G>A|772|CPT1B|protein_coding|CODING|NM_004377.3|14|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu531Lys/c.1591G>A|772|CPT1B|protein_coding|CODING|NM_152245.2|14|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu531Lys/c.1591G>A|772|CPT1B|protein_coding|CODING|NM_152246.2|14|1),non_coding_exon_variant(MODIFIER|||n.3161G>A||CHKB-CPT1B||NON_CODING|NR_027928.2|24|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3354,0.4352,0.4602,0.36,0.16,0.46,,0.000000(D),0.000(P),"-2.46,-2.46,-2.46,-2.46,-2.46,-2.46,-2.46(D,D,D,D,D,D,D)",0.0000(T),0.541,3.385632,5.31,5.31,0.561000,2.768000,2.827000,0.408000,0.993000,1.000000,16.511
missense_variant,SHANK3,MISSENSE,NM_033517.1:p.Ile245Thr/c.734T>C,aTc/aCc,MODERATE,COSM445196(4),0.343251,0.0754,rs9616915,0.51(T),0.001(B),0.78(N),-0.9353(T),,chr22,51117580,51117580,T,C,het,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile245Thr/c.734T>C|1717|SHANK3|protein_coding|CODING|NM_033517.1|6|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.3548,0.353,0.5089,0.48,0.40,0.52,,,0.999(P),"2.07,2.07(T,T)",0.0000(T),0.102,1.281994,4.65,4.65,-0.142000,1.190000,1.469000,0.979000,0.997000,0.997000,6.7166
missense_variant,XG,MISSENSE,NM_001141919.1:p.Leu131Pro/c.392T>C,cTc/cCc,MODERATE,COSM4156783(1),0.965033,0.983,rs3749988,0.34(T),0.0(B),,-1.0372(T),,chrX,2724760,2724760,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu131Pro/c.392T>C|195|XG|protein_coding|CODING|NM_001141919.1|8|1),intron_variant(MODIFIER|||c.377-1466T>C|181|XG|protein_coding|CODING|NM_001141920.1|7|1),intron_variant(MODIFIER|||c.374-1466T>C|180|XG|protein_coding|CODING|NM_175569.2|7|1)",NHEK:H3K36me3,,,,0.9944,0.9752,0.9909,0.95,0.86,1.00,,0.000088(N),1.000(P),1.2(T),0.0000(T),0.012,-1.452515,1.93,1.93,-0.524000,0.139000,0.335000,0.080000,0.044000,0.056000,4.5272
missense_variant,GYG2,MISSENSE,NM_003918.2:p.Ala270Val/c.809C>T,gCg/gTg,MODERATE,,0.578278,0.8037,rs2306734,0.33(T),"0.001,0.145,0.138,0.04,0.018(B,B,B,B,B)",0.55(N),-0.9452(T),,chrX,2777985,2777985,C,T,hom,"missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala239Val/c.716C>T|470|GYG2|protein_coding|CODING|NM_001079855.1|7|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala239Val/c.716C>T|469|GYG2|protein_coding|CODING|NM_001184702.1|7|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala270Val/c.809C>T|430|GYG2|protein_coding|CODING|NM_001184703.1|8|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala84Val/c.251C>T|244|GYG2|protein_coding|CODING|NM_001184704.1|6|1),missense_variant(MODERATE|MISSENSE|gCg/gTg|p.Ala270Val/c.809C>T|501|GYG2|protein_coding|CODING|NM_003918.2|8|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.5864,0.6069,0.7154,0.61,0.36,0.75,,0.039699(N),1.000(P),"-0.04,-0.04,-0.04,-0.04(T,T,T,T)",0.0000(T),0.262,0.757544,3.55,-2.74,-0.357000,-0.334000,-0.439000,0.000000,0.000000,0.000000,6.7803
missense_variant,GYG2,MISSENSE,NM_003918.2:p.His313Arg/c.938A>G,cAc/cGc,MODERATE,,0.575364,0.805,rs2306735,0.43(T),"0.0,0.001,0.0,0.0,0.001(B,B,B,B,B)",0(N),-0.9301(T),,chrX,2779570,2779570,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His282Arg/c.845A>G|470|GYG2|protein_coding|CODING|NM_001079855.1|8|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His282Arg/c.845A>G|469|GYG2|protein_coding|CODING|NM_001184702.1|8|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His313Arg/c.938A>G|430|GYG2|protein_coding|CODING|NM_001184703.1|9|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His127Arg/c.380A>G|244|GYG2|protein_coding|CODING|NM_001184704.1|7|1),missense_variant(MODERATE|MISSENSE|cAc/cGc|p.His313Arg/c.938A>G|501|GYG2|protein_coding|CODING|NM_003918.2|9|1)","H1ESC:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,0.5975,0.5935,0.6971,0.59,0.37,0.72,,0.000023(N),1.000(P),"1.05,1.37,1.39,1.39(T,T,T,T)",0.0000(T),0.155,-2.339894,1.21,-2.43,-4.475000,-3.128000,-1.460000,0.000000,0.000000,0.000000,0.392
stop_gained,ARSD,NONSENSE,NM_001669.3:p.Trp331*/c.992G>A,tGg/tAg,HIGH,COSM1467373(4),,,rs111939179,1(T),,,,ARSD:1.00(1);ARSD:1.00(1);,chrX,2833605,2833605,C,T,het,stop_gained(HIGH|NONSENSE|tGg/tAg|p.Trp331*/c.992G>A|593|ARSD|protein_coding|CODING|NM_001669.3|6|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000517(U),0.000(P),,,.,3.216389,3.68,3.68,0.508000,1.478000,3.671000,0.169000,0.749000,1.000000,8.9467
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Gly323Gly/c.969T>G,ggT/ggG,LOW,COSM1467374(1),,,rs373216270,,,,,,chrX,2833628,2833628,A,C,het,synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly323Gly/c.969T>G|593|ARSD|protein_coding|CODING|NM_001669.3|6|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Tyr322Tyr/c.966T>C,taT/taC,LOW,COSM1467375(3),,,rs377542415,,,,,,chrX,2833631,2833631,A,G,het,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr322Tyr/c.966T>C|593|ARSD|protein_coding|CODING|NM_001669.3|6|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Gly320Asp/c.959G>A,gGc/gAc,MODERATE,COSM1467376(4),,,rs370769167,0(D),"0.994,0.986(D,D)",2.545(M),1.0218(D),,chrX,2833638,2833638,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly320Asp/c.959G>A|593|ARSD|protein_coding|CODING|NM_001669.3|6|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.000005(U),0.000(P),-3.3(D),0.8822(D),0.759,3.767977,3.68,3.68,0.508000,1.478000,6.334000,0.003000,0.011000,1.000000,14.8467
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Gln318His/c.954G>T,caG/caT,MODERATE,COSM1467377(2),,,rs115332247,0.06(T),"0.02,0.004(B,B)",1.39(L),-0.4345(T),,chrX,2833643,2833643,C,A,het,missense_variant(MODERATE|MISSENSE|caG/caT|p.Gln318His/c.954G>T|593|ARSD|protein_coding|CODING|NM_001669.3|6|1),"IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.914110(N),1.000(P),-3.26(D),0.5912(D),0.062,0.787191,3.68,-6.79,-0.363000,-1.408000,-2.691000,0.002000,0.000000,0.000000,2.4437
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Ala282Asp/c.845C>A,gCt/gAt,MODERATE,COSM1319458(2),,,rs78034736,0(D),"0.993,0.971(D,D)",4.72(H),-0.8128(T),,chrX,2835863,2835863,G,T,het,missense_variant(MODERATE|MISSENSE|gCt/gAt|p.Ala282Asp/c.845C>A|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,RCV000073163.2,,,,,,,,,0.000909(U),0.000(P),-3.86(D),0.1627(T),0.757,2.889517,3.36,3.36,0.281000,1.338000,6.148000,0.274000,0.008000,1.000000,14.3198
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Phe248Phe/c.744C>T,ttC/ttT,LOW,COSM3363957(1),,,rs73632972,,,,,,chrX,2835964,2835964,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe248Phe/c.744C>T|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Phe241Phe/c.723C>T,ttC/ttT,LOW,COSM4005069(1),0.00370861,0,,,,,,,chrX,2835985,2835985,G,A,het,synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe241Phe/c.723C>T|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,0.007,0,0.0013,,,,,,,,,,,,,,,,,,,
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Phe240Cys/c.719T>G,tTt/tGt,MODERATE,,0.00370861,0,rs143238998,0.09(T),"0.111,0.078(B,B)",2.36(M),0.0794(D),,chrX,2835989,2835989,A,C,het,missense_variant(MODERATE|MISSENSE|tTt/tGt|p.Phe240Cys/c.719T>G|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,0.007,0,0.0013,,,,,0.095070(U),1.000(N),-3.28(D),0.7478(D),0.519,1.399704,3.36,2.17,0.233000,0.176000,1.565000,0.078000,0.000000,0.512000,7.7176
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Leu239Leu/c.715C>T,Ctg/Ttg,LOW,COSM3363958(1),0.00370861,0,,,,,,,chrX,2835993,2835993,G,A,het,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu239Leu/c.715C>T|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,0.007,0,0.0013,,,,,,,,,,,,,,,,,,,
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Cys238Phe/c.713G>T,tGc/tTc,MODERATE,COSM3363959(1),,,rs150899882,1(T),"0.0,0.0(B,B)",-1.79(N),-0.6053(T),,chrX,2835995,2835995,C,A,het,missense_variant(MODERATE|MISSENSE|tGc/tTc|p.Cys238Phe/c.713G>T|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,K562:DNase1",,,,,,,,,,,0.142380(N),1.000(N),-3.19(D),0.2998(T),0.113,-1.837745,3.34,0.742,-1.290000,-0.693000,1.483000,0.031000,0.002000,0.001000,6.2103
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Phe223Ile/c.667T>A,Ttc/Atc,MODERATE,,,,rs67272620,0.69(T),"0.006,0.002(B,B)",-1.29(N),-0.5363(T),,chrX,2836041,2836041,A,T,het,missense_variant(MODERATE|MISSENSE|Ttc/Atc|p.Phe223Ile/c.667T>A|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,0.009474(N),1.000(N),-3.21(D),0.3041(T),0.064,-0.224509,3.47,-2.84,-0.663000,-1.381000,-4.118000,0.021000,0.000000,0.000000,1.9766
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Gly221Ser/c.661G>A,Ggt/Agt,MODERATE,COSM3363960(2),,,rs67359049,0.14(T),"0.943,0.812(D,P)",2.515(M),-0.3989(T),,chrX,2836047,2836047,C,T,het,missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly221Ser/c.661G>A|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,0.000004(U),1.000(N),-3.26(D),0.2590(T),0.164,2.969913,3.47,2.6,-0.454000,0.383000,-0.249000,0.012000,0.001000,0.000000,7.3482
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Ala216Ala/c.648C>T,gcC/gcT,LOW,COSM3363961(1),,,rs113318393,,,,,,chrX,2836060,2836060,G,A,het,synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala216Ala/c.648C>T|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Ala208Ala/c.624G>C,gcG/gcC,LOW,,,,rs73632973,,,,,,chrX,2836084,2836084,C,G,het,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala208Ala/c.624G>C|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARSD,SILENT,NM_001669.3:p.Pro190Pro/c.570C>T,ccC/ccT,LOW,COSM4005070(1),,,rs73632974,,,,,,chrX,2836138,2836138,G,A,het,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro190Pro/c.570C>T|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Met176Lys/c.527T>A,aTg/aAg,MODERATE,COSM1636495(3),,,rs73632975,0.03(D),"0.248,0.114(B,B)",3.1(M),-0.1175(T),,chrX,2836181,2836181,A,T,het,missense_variant(MODERATE|MISSENSE|aTg/aAg|p.Met176Lys/c.527T>A|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,0.000010(U),0.002(P),-3.28(D),0.1715(T),0.556,3.048099,3.47,3.47,0.343000,1.132000,5.800000,0.868000,0.287000,1.000000,11.4758
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Gly175Asp/c.524G>A,gGc/gAc,MODERATE,COSM1636496(2),,,rs73632976,0.01(D),"0.873,0.883(P,P)",3.97(H),-0.1398(T),,chrX,2836184,2836184,C,T,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly175Asp/c.524G>A|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,0.000000(U),0.000(P),-3.76(D),0.5109(D),0.845,4.432561,3.47,3.47,0.420000,1.394000,4.701000,0.851000,0.184000,1.000000,14.5312
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Leu166Gln/c.497T>A,cTg/cAg,MODERATE,COSM298990(4),,,rs73632977,0.03(D),"0.93,0.917(D,D)",2.47(M),-0.0831(T),,chrX,2836211,2836211,A,T,het,missense_variant(MODERATE|MISSENSE|cTg/cAg|p.Leu166Gln/c.497T>A|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,0.002147(U),1.000(P),-3.37(D),0.2667(T),0.409,1.480007,3.47,3.47,0.343000,1.132000,2.195000,0.309000,0.027000,0.026000,7.379
missense_variant,ARSD,MISSENSE,NM_001669.3:p.Ser157Phe/c.470C>T,tCc/tTc,MODERATE,COSM1636497(3),,,rs73632978,0.04(D),"0.104,0.059(B,B)",1.67(L),-0.3109(T),,chrX,2836238,2836238,G,A,het,missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser157Phe/c.470C>T|593|ARSD|protein_coding|CODING|NM_001669.3|5|1),"HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,,,,,,,,0.276051(U),1.000(P),-3.4(D),0.1282(T),0.108,-0.502464,3.47,1.08,0.420000,0.371000,0.383000,0.025000,0.000000,0.000000,8.5841
synonymous_variant,ARSE,SILENT,NM_001282628.1:p.Asn589Asn/c.1767C>T,aaC/aaT,LOW,,0.565828,0.8966,rs11222,,,,,,chrX,2852951,2852951,G,A,hom,"synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn564Asn/c.1692C>T|589|ARSE|protein_coding|CODING|NM_000047.2|11|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn589Asn/c.1767C>T|614|ARSE|protein_coding|CODING|NM_001282628.1|12|1),synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn519Asn/c.1557C>T|544|ARSE|protein_coding|CODING|NM_001282631.1|10|1)",HepG2:H3K36me3,,,,0.8148,0.542,0.6606,0.46,0.17,0.62,,,,,,,,,,,,,,,,
missense_variant,ARSE,MISSENSE,NM_001282628.1:p.Gly449Ser/c.1345G>A,Ggc/Agc,MODERATE,,0.57457,0.8953,rs35143646,0.43(T),"0.511,0.41,0.49(P,B,P)",1.78(L),-0.9030(T),,chrX,2856155,2856155,C,T,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly424Ser/c.1270G>A|589|ARSE|protein_coding|CODING|NM_000047.2|9|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly449Ser/c.1345G>A|614|ARSE|protein_coding|CODING|NM_001282628.1|10|1),missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly379Ser/c.1135G>A|544|ARSE|protein_coding|CODING|NM_001282631.1|8|1)","GM12878:H3K36me3,HepG2:H3K36me3",,,,0.8189,0.5496,0.6932,0.49,0.18,0.67,,0.000001(D),0.001(P),"-3.3,-3.3,-3.3(D,D,D)",0.0000(T),0.151,1.369388,3.46,3.46,0.540000,1.355000,6.335000,0.005000,0.017000,1.000000,14.3929
synonymous_variant,ARSH,SILENT,NM_001011719.1:p.Leu49Leu/c.147C>T,ctC/ctT,LOW,COSM3759461(1),0.026755,0.0105,rs79487908,,,,,,chrX,2928125,2928125,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu49Leu/c.147C>T|562|ARSH|protein_coding|CODING|NM_001011719.1|2|1),,,,,0.0348,0.021,0.0666,0.05,0.02,0.07,,,,,,,,,,,,,,,,
synonymous_variant,ARSH,SILENT,NM_001011719.1:p.Thr64Thr/c.192C>T,acC/acT,LOW,COSM3759462(1),0.066755,0.0105,rs77183343,,,,,,chrX,2928170,2928170,C,T,hom,synonymous_variant(LOW|SILENT|acC/acT|p.Thr64Thr/c.192C>T|562|ARSH|protein_coding|CODING|NM_001011719.1|2|1),,,,,0.0585,0.042,0.1097,0.11,0.11,0.11,,,,,,,,,,,,,,,,
missense_variant,ARSH,MISSENSE,NM_001011719.1:p.Thr387Met/c.1160C>T,aCg/aTg,MODERATE,COSM3759463(1),0.0378808,0.0118,rs61751925,0(D),0.999(D),4.58(H),-0.5466(T),,chrX,2945477,2945477,C,T,hom,missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr387Met/c.1160C>T|562|ARSH|protein_coding|CODING|NM_001011719.1|7|1),,,,,0.0515,0.0477,0.0927,0.07,0.02,0.10,,0.000000(U),0.064(P),-5.49(D),0.6976(D),0.303,1.639794,3.4,3.4,0.596000,1.328000,4.677000,0.010000,0.004000,0.999000,14.2922
synonymous_variant,PRKX,SILENT,NM_005044.4:p.Pro83Pro/c.249C>T,ccC/ccT,LOW,COSM1467793(1),0.455364,0.3678,rs10871864,,,,,,chrX,3592725,3592725,G,A,hom,synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro83Pro/c.249C>T|358|PRKX|protein_coding|CODING|NM_005044.4|2|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.4429,0.6469,0.5692,0.50,0.38,0.57,,,,,,,,,,,,,,,,
missense_variant,HDHD1,MISSENSE,NM_001178135.1:p.Thr208Asn/c.623C>A,aCc/aAc,MODERATE,COSM3845268(1),0.34649,0.3141,rs5978220,,0.127(B),,-0.9295(T),,chrX,6975752,6975752,G,T,hom,"missense_variant(MODERATE|MISSENSE|aCc/aAc|p.Thr208Asn/c.623C>A|208|HDHD1|protein_coding|CODING|NM_001178135.1|4|1),intron_variant(MODIFIER|||c.580-7239C>A|251|HDHD1|protein_coding|CODING|NM_001135565.1|4|1),intron_variant(MODIFIER|||c.382-7239C>A|185|HDHD1|protein_coding|CODING|NM_001178136.1|3|1),intron_variant(MODIFIER|||c.511-7239C>A|228|HDHD1|protein_coding|CODING|NM_012080.4|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.3733,0.2252,0.2977,,,,,,1.000(P),1.41(T),0.0000(T),0.077,-0.294797,1.15,1.15,0.429000,0.865000,1.306000,0.005000,0.001000,0.003000,5.3176
missense_variant,HDHD1,MISSENSE,NM_001178135.1:p.Cys198Ser/c.593G>C,tGt/tCt,MODERATE,COSM4156988(1),0.618013,0.5982,rs868756,,0.0(B),,-0.9097(T),,chrX,6975782,6975782,C,G,hom,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys198Ser/c.593G>C|208|HDHD1|protein_coding|CODING|NM_001178135.1|4|1),intron_variant(MODIFIER|||c.580-7269G>C|251|HDHD1|protein_coding|CODING|NM_001135565.1|4|1),intron_variant(MODIFIER|||c.382-7269G>C|185|HDHD1|protein_coding|CODING|NM_001178136.1|3|1),intron_variant(MODIFIER|||c.511-7269G>C|228|HDHD1|protein_coding|CODING|NM_012080.4|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.734,0.6756,0.5483,,,,,,1.000(P),1.48(T),0.0000(T),0.021,-0.489530,1.41,-0.514,-0.178000,-0.781000,-2.366000,0.000000,0.000000,0.000000,2.6984
synonymous_variant,HDHD1,SILENT,NM_001135565.1:p.Pro175Pro/c.525G>A,ccG/ccA,LOW,COSM4156991(1),0.663046,0.5969,rs2379206,,,,,,chrX,6995315,6995315,C,T,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro175Pro/c.525G>A|251|HDHD1|protein_coding|CODING|NM_001135565.1|4|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro152Pro/c.456G>A|208|HDHD1|protein_coding|CODING|NM_001178135.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro109Pro/c.327G>A|185|HDHD1|protein_coding|CODING|NM_001178136.1|3|1),synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro152Pro/c.456G>A|228|HDHD1|protein_coding|CODING|NM_012080.4|3|1)","HUVEC:H3K36me3,GM12878:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.734,0.687,0.5496,0.64,0.74,0.59,,,,,,,,,,,,,,,,
missense_variant,VCX2,MISSENSE,NM_016378.2:p.Thr138Ser/c.413C>G,aCc/aGc,MODERATE,COSM4157031(2),0.89404,0.966,rs1058239,1(T),0.0(B),0(N),-0.9734(T),,chrX,8138080,8138080,G,C,hom,missense_variant(MODERATE|MISSENSE|aCc/aGc|p.Thr138Ser/c.413C>G|139|VCX2|protein_coding|CODING|NM_016378.2|3|1),,,,,0.7925,0.9084,0.8198,0.86,0.94,0.81,,,1.000(P),2.45(T),0.0000(T),0.014,-2.419037,0.189,0.189,-0.752000,-0.759000,-0.409000,0.003000,0.003000,0.106000,.
synonymous_variant,VCX2,SILENT,NM_016378.2:p.Glu111Glu/c.333A>G,gaA/gaG,LOW,COSM4157032(2),,,rs1058238,,,,,,chrX,8138160,8138160,T,C,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu111Glu/c.333A>G|139|VCX2|protein_coding|CODING|NM_016378.2|3|1),,,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,VCX2,MISSENSE,NM_016378.2:p.Val110Leu/c.328G>C,Gtg/Ctg,MODERATE,COSM3774037(3),0.83894,0.9555,rs1058237,0.92(T),0.0(B),-0.55(N),-0.9597(T),,chrX,8138165,8138165,C,G,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ctg|p.Val110Leu/c.328G>C|139|VCX2|protein_coding|CODING|NM_016378.2|3|1),,,,,0.7577,0.8588,0.7611,,,,,,1.000(P),2.68(T),0.0000(T),0.144,-2.260355,0.0465,0.0465,-1.461000,-1.450000,-0.675000,0.002000,0.002000,0.000000,.
missense_variant,VCX2,MISSENSE,NM_016378.2:p.Ser108Thr/c.323G>C,aGc/aCc,MODERATE,COSM3774038(4),0.809536,0.949,rs75657421,1(T),0.0(B),-0.695(N),-0.9507(T),,chrX,8138170,8138170,C,G,hom,missense_variant(MODERATE|MISSENSE|aGc/aCc|p.Ser108Thr/c.323G>C|139|VCX2|protein_coding|CODING|NM_016378.2|3|1),,,,,0.7284,0.8511,0.7585,,,,,,1.000(P),2.54(T),0.0000(T),0.128,-2.558529,0.0465,0.0465,-1.461000,-1.450000,-0.361000,0.004000,0.004000,0.000000,.
missense_variant,VCX2,MISSENSE,NM_016378.2:p.Ser108Gly/c.322A>G,Agc/Ggc,MODERATE,COSM3774039(3),,,rs78723459,0.01(D),0.001(B),0.895(L),-0.9766(T),,chrX,8138171,8138171,T,C,hom,missense_variant(MODERATE|MISSENSE|Agc/Ggc|p.Ser108Gly/c.322A>G|139|VCX2|protein_coding|CODING|NM_016378.2|3|1),,,,,,,,,,,,,1.000(P),2.17(T),0.0000(T),0.134,0.408758,0.0465,0.0465,0.104000,0.105000,0.893000,0.008000,0.008000,0.001000,.
missense_variant,VCX2,MISSENSE,NM_016378.2:p.Leu104Pro/c.311T>C,cTg/cCg,MODERATE,COSM1570010(3),,,rs41305169,0.08(T),0.883(P),1.895(L),-0.9101(T),,chrX,8138182,8138182,A,G,hom,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu104Pro/c.311T>C|139|VCX2|protein_coding|CODING|NM_016378.2|3|1),,,,,,,,,,,,,1.000(N),1.34(T),0.0000(T),0.307,-0.098106,0.0465,0.0465,0.104000,0.105000,-0.143000,0.015000,0.014000,0.001000,.
synonymous_variant,KAL1,SILENT,NM_000216.2:p.Ile611Ile/c.1833C>T,atC/atT,LOW,COSM1469751(1),0.481854,0.6675,rs386615412,,,,,,chrX,8503641,8503641,G,A,hom,synonymous_variant(LOW|SILENT|atC/atT|p.Ile611Ile/c.1833C>T|680|KAL1|protein_coding|CODING|NM_000216.2|12|1),H1ESC:H3K36me3,,,,0.3565,0.458,0.6632,0.55,0.35,0.67,,,,,,,,,,,,,,,,
missense_variant,KAL1,MISSENSE,NM_000216.2:p.Val534Ile/c.1600G>A,Gtt/Att,MODERATE,,0.488212,0.6675,rs808119,1(T),0.001(B),-0.38(N),-1.0059(T),,chrX,8504833,8504833,C,T,hom,missense_variant(MODERATE|MISSENSE|Gtt/Att|p.Val534Ile/c.1600G>A|680|KAL1|protein_coding|CODING|NM_000216.2|11|1),"H1ESC:H3K36me3,HeLa-S3:H3K27me3",,,,0.3538,0.4618,0.6684,0.56,0.38,0.67,,0.491758(N),1.000(P),-0.74(T),0.0000(T),0.014,-2.328820,3.89,-4.09,-0.198000,-1.055000,-0.458000,0.000000,0.000000,0.003000,7.395
synonymous_variant,SHROOM2,SILENT,NM_001649.2:p.Ser261Ser/c.783G>A,tcG/tcA,LOW,,0.00609272,0,rs74461072,,,,,,chrX,9862731,9862731,G,A,hom,synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser261Ser/c.783G>A|1616|SHROOM2|protein_coding|CODING|NM_001649.2|4|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,K562:H3K27me3,HepG2:H3K36me3",,,,0.0014,0.0095,0.0196,0.01,0.00,0.01,,,,,,,,,,,,,,,,
synonymous_variant,WWC3,SILENT,NM_015691.3:p.Asp525Asp/c.1575T>C,gaT/gaC,LOW,COSM4156479(1),0.959205,1,rs6530368,,,,,,chrX,10085674,10085674,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp525Asp/c.1575T>C|1092|WWC3|protein_coding|CODING|NM_015691.3|11|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.9708,0.9389,0.8708,0.91,0.98,0.87,,,,,,,,,,,,,,,,
synonymous_variant,AMELX,SILENT,NM_182680.1:p.His87His/c.261C>T,caC/caT,LOW,COSM3759330(3),0.164768,0.0196,rs2106416,,,,,,chrX,11316742,11316742,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His73His/c.219C>T|191|AMELX|protein_coding|CODING|NM_001142.2|5|1),synonymous_variant(LOW|SILENT|caC/caT|p.His87His/c.261C>T|205|AMELX|protein_coding|CODING|NM_182680.1|6|1),synonymous_variant(LOW|SILENT|caC/caT|p.His57His/c.171C>T|175|AMELX|protein_coding|CODING|NM_182681.1|4|1),intron_variant(MODIFIER|||c.49-43915G>A|794|ARHGAP6|protein_coding|CODING|NM_001287242.1|1|1),intron_variant(MODIFIER|||c.589-43915G>A|765|ARHGAP6|protein_coding|CODING|NM_006125.2|1|1),intron_variant(MODIFIER|||c.589-43915G>A|974|ARHGAP6|protein_coding|CODING|NM_013427.2|1|1),intron_variant(MODIFIER|||n.1462-8144G>A||ARHGAP6||CODING|NR_109776.1|1|1)",NHEK:H3K27me3,,,,0.1337,0.1145,0.2206,0.25,0.29,0.22,,,,,,,,,,,,,,,,
synonymous_variant,PRPS2,SILENT,NM_001039091.2:p.Leu15Leu/c.45G>A,ctG/ctA,LOW,COSM4156574(1),0.578013,0.805,rs1731469,,,,,,chrX,12809661,12809661,G,A,hom,"synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu15Leu/c.45G>A|321|PRPS2|protein_coding|CODING|NM_001039091.2|1|1),synonymous_variant(LOW|SILENT|ctG/ctA|p.Leu15Leu/c.45G>A|318|PRPS2|protein_coding|CODING|NM_002765.4|1|1)","K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:H3K27me3,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,K562:E2F6,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:DNase1,HeLa-S3:H3K4me3,HSMM:H3K4me3,HeLa-S3:E2F1,K562:HEY1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1,HeLa-S3:E2F6",,,,0.5014,0.6317,0.6123,0.57,0.46,0.63,,,,,,,,,,,,,,,,
synonymous_variant,TLR8,SILENT,NM_016610.3:p.Asp941Asp/c.2823T>C,gaT/gaC,LOW,,0.99894,1,rs2109135,,,,,,chrX,12939928,12939928,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp941Asp/c.2823T>C|1059|TLR8|protein_coding|CODING|NM_016610.3|3|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp923Asp/c.2769T>C|1041|TLR8|protein_coding|CODING|NM_138636.5|2|1),intron_variant(MODIFIER|||n.241-13476A>G||TLR8-AS1||NON_CODING|NR_030727.1|2|1)","HUVEC:H3K27me3,GM12878:H3K27me3,NHEK:H3K27me3",,,,1,0.9981,0.9961,1.00,1.00,1.00,,,,,,,,,,,,,,,,
missense_variant,ATXN3L,MISSENSE,NM_001135995.1:p.Gly332Asp/c.995G>A,gGc/gAc,MODERATE,COSM3759363(1),0.65351,0.8377,rs4830842,1(T),0.0(B),-0.895(N),-0.9979(T),,chrX,13337059,13337059,C,T,hom,"missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly332Asp/c.995G>A|355|ATXN3L|protein_coding|CODING|NM_001135995.1|1|1),intron_variant(MODIFIER|||n.1449-68C>T||GS1-600G8.3||NON_CODING|NR_046087.1|15|1)",K562:H3K36me3,,,,0.5195,0.7004,0.3251,0.48,0.76,0.34,,0.000011(N),1.000(P),2.57(T),0.0000(T),0.033,-2.384494,0.793,0.793,-0.631000,-0.243000,-0.055000,0.003000,0.008000,0.013000,.
synonymous_variant,GLRA2,SILENT,NM_001118885.1:p.His249His/c.747T>C,caT/caC,LOW,,0.217219,0.0183,rs2229963,,,,,,chrX,14627144,14627144,T,C,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His249His/c.747T>C|452|GLRA2|protein_coding|CODING|NM_001118885.1|8|1),synonymous_variant(LOW|SILENT|caT/caC|p.His249His/c.747T>C|452|GLRA2|protein_coding|CODING|NM_001118886.1|7|1),synonymous_variant(LOW|SILENT|caT/caC|p.His160His/c.480T>C|363|GLRA2|protein_coding|CODING|NM_001171942.1|9|1),synonymous_variant(LOW|SILENT|caT/caC|p.His249His/c.747T>C|452|GLRA2|protein_coding|CODING|NM_002063.3|7|1)",,,,,0.2326,0.1985,0.3055,0.30,0.28,0.30,,,,,,,,,,,,,,,,
missense_variant,ASB11,MISSENSE,NM_080873.2:p.Ser263Gly/c.787A>G,Agt/Ggt,MODERATE,,0.00953642,0,rs35859007,0.01(D),"0.063,0.023,0.023(B,B,B)",1.245(L),-0.9655(T),,chrX,15306063,15306063,T,C,hom,"missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser242Gly/c.724A>G|302|ASB11|protein_coding|CODING|NM_001012428.2|6|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser246Gly/c.736A>G|306|ASB11|protein_coding|CODING|NM_001201583.1|6|1),missense_variant(MODERATE|MISSENSE|Agt/Ggt|p.Ser263Gly/c.787A>G|323|ASB11|protein_coding|CODING|NM_080873.2|6|1)",,,,,0.0084,0.021,0.0248,0.02,0.00,0.02,,0.056149(N),1.000(N),"-0.2,-0.2,-0.2,-0.2(T,T,T,T)",0.0775(T),0.184,1.767340,5.44,-0.694,-0.565000,0.190000,1.013000,0.980000,0.001000,0.001000,6.4511
synonymous_variant,PIR,SILENT,NM_001018109.2:p.Gln227Gln/c.681G>A,caG/caA,LOW,COSM150767(2),0.438146,0.4686,rs8094,,,,,,chrX,15415583,15415583,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln227Gln/c.681G>A|290|PIR|protein_coding|CODING|NM_001018109.2|8|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln227Gln/c.681G>A|290|PIR|protein_coding|CODING|NM_003662.3|8|1),non_coding_exon_variant(MODIFIER|||n.986G>A||PIR-FIGF||NON_CODING|NR_037859.2|8|1)",,,,,0.429,0.4885,0.5705,0.49,0.33,0.58,,,,,,,,,,,,,,,,
synonymous_variant,ACE2,SILENT,NM_021804.2:p.Val749Val/c.2247G>A,gtG/gtA,LOW,,0.0209272,0,rs35803318,,,,,,chrX,15582209,15582209,C,T,hom,synonymous_variant(LOW|SILENT|gtG/gtA|p.Val749Val/c.2247G>A|805|ACE2|protein_coding|CODING|NM_021804.2|18|1),"GM12878:H3K27me3,IMR90:H3K27me3",,,,0,0.0706,0.0535,0.04,0.01,0.05,,,,,,,,,,,,,,,,
synonymous_variant,ZRSR2,SILENT,NM_005089.3:p.Asn288Asn/c.864C>T,aaC/aaT,LOW,COSM3759436(1),0.557616,0.5942,rs2301724,,,,,,chrX,15838366,15838366,C,T,hom,synonymous_variant(LOW|SILENT|aaC/aaT|p.Asn288Asn/c.864C>T|482|ZRSR2|protein_coding|CODING|NM_005089.3|10|1),"H1ESC:H3K36me3,HSMM:H3K27ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.5808,0.5344,0.5222,0.51,0.54,0.49,,,,,,,,,,,,,,,,
synonymous_variant,GRPR,SILENT,NM_005314.2:p.Ser151Ser/c.453T>C,tcT/tcC,LOW,COSM3759437(1),0.274967,0.161,rs386476554,,,,,,chrX,16168467,16168467,T,C,hom,synonymous_variant(LOW|SILENT|tcT/tcC|p.Ser151Ser/c.453T>C|384|GRPR|protein_coding|CODING|NM_005314.2|2|1),H1ESC:H3K36me3,,,,0.2911,0.2767,0.3342,0.34,0.33,0.34,,,,,,,,,,,,,,,,
synonymous_variant,GRPR,SILENT,NM_005314.2:p.Ile221Ile/c.663T>C,atT/atC,LOW,COSM3759438(1),0.389669,0.1662,rs4986946,,,,,,chrX,16168677,16168677,T,C,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile221Ile/c.663T>C|384|GRPR|protein_coding|CODING|NM_005314.2|2|1),H1ESC:H3K36me3,,,,0.3162,0.3149,0.3355,0.46,0.66,0.35,,,,,,,,,,,,,,,,
missense_variant,RAI2,MISSENSE,NM_001172739.1:p.Met252Val/c.754A>G,Atg/Gtg,MODERATE,COSM4156765(1),0.99947,1,rs6527818,1(T),"0.0,0.0(B,B)",-1.39(N),-0.9561(T),,chrX,17819377,17819377,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met202Val/c.604A>G|480|RAI2|protein_coding|CODING|NM_001172732.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met252Val/c.754A>G|530|RAI2|protein_coding|CODING|NM_001172739.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met252Val/c.754A>G|530|RAI2|protein_coding|CODING|NM_001172743.1|3|1),missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met252Val/c.754A>G|530|RAI2|protein_coding|CODING|NM_021785.4|2|1),non_coding_exon_variant(MODIFIER|||n.1291A>G||RAI2||CODING|NR_033348.1|3|1),non_coding_exon_variant(MODIFIER|||n.1097A>G||RAI2||CODING|NR_033349.1|2|1)",NHEK:H3K27me3,,,,1,1,0.9974,1.00,1.00,1.00,,0.004191(N),1.000(P),"1.72,1.72,1.72,1.72,1.79(T,T,T,T,T)",0.0000(T),0.182,-1.354178,5.29,5.29,-0.177000,1.233000,1.494000,0.914000,0.966000,0.909000,8.0651
missense_variant,PDHA1,MISSENSE,NM_001173454.1:p.Thr25Met/c.74C>T,aCg/aTg,MODERATE,,0.247947,0.0065,rs7883320,0.14(T),0.0(B),0(N),-0.9334(T),,chrX,19364644,19364644,C,T,hom,"missense_variant(MODERATE|MISSENSE|aCg/aTg|p.Thr25Met/c.74C>T|428|PDHA1|protein_coding|CODING|NM_001173454.1|2|1),intron_variant(MODIFIER|||c.57+2432C>T|390|PDHA1|protein_coding|CODING|NM_000284.3|1|1),intron_variant(MODIFIER|||c.57+2432C>T|397|PDHA1|protein_coding|CODING|NM_001173455.1|1|1),intron_variant(MODIFIER|||c.57+2432C>T|359|PDHA1|protein_coding|CODING|NM_001173456.1|1|1)","HeLa-S3:H3K79me2,K562:H3K36me3,HepG2:H3K36me3",,,,0.1546,0.0973,0.0352,,,,,,1.000(P),"-4.72,-4.91(D,D)",0.0000(T),0.025,-1.231873,0.427,-0.854,-2.020000,-1.890000,-0.622000,0.001000,0.001000,0.002000,.
synonymous_variant,PDHA1,SILENT,NM_001173454.1:p.Ala303Ala/c.909A>G,gcA/gcG,LOW,COSM3759444(1),0.304636,0.0065,rs1126565,,,,,,chrX,19373839,19373839,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala265Ala/c.795A>G|390|PDHA1|protein_coding|CODING|NM_000284.3|8|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala303Ala/c.909A>G|428|PDHA1|protein_coding|CODING|NM_001173454.1|9|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala272Ala/c.816A>G|397|PDHA1|protein_coding|CODING|NM_001173455.1|8|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala234Ala/c.702A>G|359|PDHA1|protein_coding|CODING|NM_001173456.1|7|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000078559.3|RCV000127398.1,,0.1546,0.1126,0.0352,0.32,0.82,0.04,,,,,,,,,,,,,,,,
missense_variant,MAP3K15,MISSENSE,NM_001001671.3:p.Ala192Thr/c.574G>A,Gct/Act,MODERATE,COSM4156768(1),0.67947,0.8927,rs5909299,0.1(T),,-0.345(N),-1.1412(T),,chrX,19482476,19482476,C,T,hom,missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala192Thr/c.574G>A|1313|MAP3K15|protein_coding|CODING|NM_001001671.3|4|1),K562:H3K27me3,,,,0.8301,0.8492,0.9125,0.68,0.24,0.89,,0.003569(N),1.000(P),"3.0,3.0(T,T)",0.0000(T),0.242,1.437515,5.4,3.64,0.594000,0.573000,1.610000,0.009000,0.005000,0.004000,11.7692
missense_variant,MAP7D2,MISSENSE,NM_001168465.1:p.Asn182Ser/c.545A>G,aAt/aGt,MODERATE,COSM3759445(1),0.35947,0.0327,rs34519770,1(T),"0.001,0.001,0.007,0.0,0.001(B,B,B,B,B)",-0.735(N),-1.0057(T),,chrX,20071046,20071046,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn182Ser/c.545A>G|773|MAP7D2|protein_coding|CODING|NM_001168465.1|5|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn138Ser/c.413A>G|680|MAP7D2|protein_coding|CODING|NM_001168467.1|5|1),missense_variant(MODERATE|MISSENSE|aAt/aGt|p.Asn182Ser/c.545A>G|732|MAP7D2|protein_coding|CODING|NM_152780.3|5|1),intron_variant(MODIFIER|||c.484+3752A>G|687|MAP7D2|protein_coding|CODING|NM_001168466.1|4|1)","GM12878:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.11,0.2595,0.2493,0.47,0.83,0.27,,0.000003(N),0.000(P),"4.06,4.06,3.91,4.06(T,T,T,T)",0.0000(T),0.025,0.136847,5.64,2.93,-0.170000,-0.033000,0.953000,0.994000,0.998000,1.000000,9.4993
synonymous_variant,MAP7D2,SILENT,NM_001168465.1:p.Gly6Gly/c.18C>T,ggC/ggT,LOW,,0.319205,0.0223,rs17523345,,,,,,chrX,20134980,20134980,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly6Gly/c.18C>T|773|MAP7D2|protein_coding|CODING|NM_001168465.1|1|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly6Gly/c.18C>T|687|MAP7D2|protein_coding|CODING|NM_001168466.1|1|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly6Gly/c.18C>T|732|MAP7D2|protein_coding|CODING|NM_152780.3|1|1),upstream_gene_variant(MODIFIER||224||680|MAP7D2|protein_coding|CODING|NM_001168467.1||1)","H1ESC:H3K36me3,HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:DNase1,HSMM:H3K4me3,HMEC:H3K4me3",,,,0.0794,0.2443,0.218,0.44,0.76,0.24,,,,,,,,,,,,,,,,
missense_variant,ZNF645,MISSENSE,NM_152577.3:p.Asp166Glu/c.498C>A,gaC/gaA,MODERATE,COSM3759450(1),0.406093,0.4476,rs386600625,0.9(T),0.0(B),-0.345(N),-0.9575(T),,chrX,22291606,22291606,C,A,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaA|p.Asp166Glu/c.498C>A|425|ZNF645|protein_coding|CODING|NM_152577.3|1|1),intron_variant(MODIFIER|||n.512-13647G>T||PTCHD1-AS||NON_CODING|NR_073010.1|5|1)",,,,,0.1866,0.3912,0.111,0.32,0.68,0.11,,0.012685(N),1.000(P),1.46(T),0.0000(T),0.009,-0.137835,3.32,0.836,-1.309000,-0.203000,-0.180000,0.001000,0.000000,0.047000,0.5068
synonymous_variant,ZNF645,SILENT,NM_152577.3:p.Ile208Ile/c.624C>T,atC/atT,LOW,COSM3759451(1),0.268609,0.449,rs6629461,,,,,,chrX,22291732,22291732,C,T,hom,"synonymous_variant(LOW|SILENT|atC/atT|p.Ile208Ile/c.624C>T|425|ZNF645|protein_coding|CODING|NM_152577.3|1|1),intron_variant(MODIFIER|||n.512-13773G>A||PTCHD1-AS||NON_CODING|NR_073010.1|5|1)",,,,,0.1866,0.3454,0.1162,0.16,0.24,0.12,,,,,,,,,,,,,,,,
synonymous_variant,ACOT9,SILENT,NM_001037171.1:p.Leu412Leu/c.1234T>C,Ttg/Ctg,LOW,,0.0929801,0,rs11175,,,,,,chrX,23722835,23722835,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu403Leu/c.1207T>C|439|ACOT9|protein_coding|CODING|NM_001033583.2|14|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu412Leu/c.1234T>C|448|ACOT9|protein_coding|CODING|NM_001037171.1|15|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0432,0.0878,0.2167,0.16,0.10,0.19,,,,,,,,,,,,,,,,
missense_variant,CXorf58,MISSENSE,NM_152761.2:p.Arg24Cys/c.70C>T,Cgc/Tgc,MODERATE,COSM1179846(2),0.370066,0.3141,rs2707164,0.19(T),0.55(P),0.55(N),-0.9422(T),,chrX,23928489,23928489,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg24Cys/c.70C>T|330|CXorf58|protein_coding|CODING|NM_001169574.1|2|1),missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg24Cys/c.70C>T|332|CXorf58|protein_coding|CODING|NM_152761.2|2|1)",,,,,0.1992,0.5687,0.6749,0.54,0.25,0.71,,0.289533(N),1.000(P),1.44(T),0.0000(T),0.099,0.485625,3.44,-0.668,0.600000,-0.274000,0.158000,0.001000,0.000000,0.000000,6.5671
synonymous_variant,EIF2S3,SILENT,NM_001415.3:p.His33His/c.99C>T,caC/caT,LOW,COSM3759453(1),0.363179,0.356,rs36018672,,,,,,chrX,24073761,24073761,C,T,hom,synonymous_variant(LOW|SILENT|caC/caT|p.His33His/c.99C>T|472|EIF2S3|protein_coding|CODING|NM_001415.3|2|1),"NHEK:H3K9ac,NHEK:H3K27ac,K562:H3K4me3,HMEC:H3K9ac,HeLa-S3:H3K79me2,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HeLa-S3:H3K9ac,HMEC:H3K36me3,K562:H3K36me3,HUVEC:H3K9ac,IMR90:H3K4me2,HeLa-S3:H3K4me2,GM12878:H3K79me2,HSMM:H3K36me3,HMEC:H3K27ac,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HSMM:H3K9ac,IMR90:H3K36me3,HUVEC:H3K4me2,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,GM12878:H3K9ac,HepG2:H3K27me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3,HSMM:H3K79me2,IMR90:H3K4me3",,RCV000116975.2,,0.1755,0.6126,0.6997,0.50,0.19,0.67,,,0.000(P),,,.,1.195295,4.68,-5.59,-0.458000,-0.749000,0.070000,0.969000,0.958000,0.963000,2.8051
missense_variant,ARX,MISSENSE,NM_139058.2:p.Thr464Ala/c.1390A>G,Act/Gct,MODERATE,,,,,0.15(T),0.782(P),0.695(N),0.2823(D),,chrX,25025286,25025286,T,C,het,missense_variant(MODERATE|MISSENSE|Act/Gct|p.Thr464Ala/c.1390A>G|562|ARX|protein_coding|CODING|NM_139058.2|4|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:DNase1,NH-A:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,0.000000(D),1.000(D),-2.81(D),0.6488(D),0.371,4.866673,4.19,4.19,0.341000,1.550000,5.267000,0.929000,1.000000,1.000000,12.2872
missense_variant,MAGEB2,MISSENSE,NM_002364.4:p.Glu61Lys/c.181G>A,Gag/Aag,MODERATE,COSM150775(2),0.89351,0.7147,rs2529541,0.89(T),0.004(B),-0.125(N),-1.0122(T),,chrX,30236878,30236878,G,A,hom,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu61Lys/c.181G>A|319|MAGEB2|protein_coding|CODING|NM_002364.4|2|1),K562:H3K36me3,,,,0.851,0.9542,0.936,0.96,0.99,0.95,,0.199059(N),1.000(P),3.69(T),0.0000(T),0.042,-0.988291,3.43,-1.45,-0.428000,-0.828000,-0.475000,0.004000,0.000000,0.000000,1.447
synonymous_variant,MAGEB2,SILENT,NM_002364.4:p.Ala72Ala/c.216G>A,gcG/gcA,LOW,,0.171126,0.0288,rs5973792,,,,,,chrX,30236913,30236913,G,A,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala72Ala/c.216G>A|319|MAGEB2|protein_coding|CODING|NM_002364.4|2|1),K562:H3K36me3,,,,0.1226,0.1985,0.2742,0.26,0.23,0.28,,,,,,,,,,,,,,,,
synonymous_variant,MAGEB2,SILENT,NM_002364.4:p.Ser102Ser/c.306C>T,tcC/tcT,LOW,,0.323444,0.0393,rs2074793,,,,,,chrX,30237003,30237003,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser102Ser/c.306C>T|319|MAGEB2|protein_coding|CODING|NM_002364.4|2|1),K562:H3K36me3,,,,0.1894,0.4103,0.3577,0.45,0.54,0.39,,,,,,,,,,,,,,,,
missense_variant,MAGEB3,MISSENSE,NM_002365.4:p.Ile112Thr/c.335T>C,aTc/aCc,MODERATE,COSM1467436(2),0.805563,0.5628,rs2071309,1(T),0.0(B),-1.895(N),-0.9444(T),,chrX,30254376,30254376,T,C,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile112Thr/c.335T>C|346|MAGEB3|protein_coding|CODING|NM_002365.4|5|1),IMR90:H3K27me3,,,,0.773,0.8931,0.8969,0.90,0.89,0.90,,0.187368(N),1.000(P),"4.92,4.92(T,T)",0.0000(T),0.013,-1.824202,4.1,-8.21,-0.915000,-3.153000,-2.949000,0.001000,0.000000,0.000000,4.2551
synonymous_variant,MAGEB4,SILENT,NM_002367.3:p.Val250Val/c.750A>G,gtA/gtG,LOW,COSM1132336(5),0.805828,0.5641,rs2071311,,,,,,chrX,30261002,30261002,A,G,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val250Val/c.750A>G|346|MAGEB4|protein_coding|CODING|NM_002367.3|1|1),upstream_gene_variant(MODIFIER||846||347|MAGEB1|protein_coding|CODING|NM_002363.4||1),upstream_gene_variant(MODIFIER||846||347|MAGEB1|protein_coding|CODING|NM_177415.2||1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.773,0.8931,0.8969,0.90,0.90,0.90,,,,,,,,,,,,,,,,
synonymous_variant,MAGEB4,SILENT,NM_002367.3:p.Leu302Leu/c.906G>C,ctG/ctC,LOW,COSM4002295(1),0.805828,0.5641,rs2856733,,,,,,chrX,30261158,30261158,G,C,hom,"synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu302Leu/c.906G>C|346|MAGEB4|protein_coding|CODING|NM_002367.3|1|1),upstream_gene_variant(MODIFIER||690||347|MAGEB1|protein_coding|CODING|NM_002363.4||1),upstream_gene_variant(MODIFIER||690||347|MAGEB1|protein_coding|CODING|NM_177415.2||1)","IMR90:H3K27me3,HepG2:H3K27me3",,,,0.773,0.8931,0.8969,0.90,0.90,0.90,,,,,,,,,,,,,,,,
synonymous_variant,CXorf21,SILENT,NM_025159.2:p.Val209Val/c.627T>G,gtT/gtG,LOW,,0.897219,0.9372,rs887369,,,,,,chrX,30577846,30577846,A,C,hom,synonymous_variant(LOW|SILENT|gtT/gtG|p.Val209Val/c.627T>G|301|CXorf21|protein_coding|CODING|NM_025159.2|3|1),"GM12878:H3K36me3,HMEC:H3K27me3,GM06990:H3K36me3",,,,0.9457,0.916,0.7637,0.80,0.90,0.75,,,,,,,,,,,,,,,,
missense_variant,TAB3,MISSENSE,NM_152787.3:p.Trp394Arg/c.1180T>C,Tgg/Cgg,MODERATE,,1,1,rs5927629,1(T),"0.0,0.0(B,B)",-0.805(N),-0.9399(T),,chrX,30872602,30872602,A,G,hom,missense_variant(MODERATE|MISSENSE|Tgg/Cgg|p.Trp394Arg/c.1180T>C|712|TAB3|protein_coding|CODING|NM_152787.3|6|1),"NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000378(N),0.000(P),"-0.33,-0.33,-0.33,-0.35(T,T,T,T)",0.0000(T),0.144,1.593634,4.7,3.8,-0.289000,0.470000,2.152000,0.962000,0.995000,1.000000,7.0008
missense_variant,DMD,MISSENSE,NM_004006.2:p.Arg2937Gln/c.8810G>A,cGg/cAg,MODERATE,,0.881854,0.928,rs1800280,0.82(T),"0.001,0.0,0.0,0.001,0.001,0.001,0.001,0.001,0.001(B,B,B,B,B,B,B,B,B)",,-0.9449(T),,chrX,31496350,31496350,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2929Gln/c.8786G>A|3677|DMD|protein_coding|CODING|NM_000109.3|59|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2937Gln/c.8810G>A|3685|DMD|protein_coding|CODING|NM_004006.2|59|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2933Gln/c.8798G>A|3681|DMD|protein_coding|CODING|NM_004009.3|59|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg2814Gln/c.8441G>A|3562|DMD|protein_coding|CODING|NM_004010.3|59|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1596Gln/c.4787G>A|2344|DMD|protein_coding|CODING|NM_004011.3|31|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg1593Gln/c.4778G>A|2341|DMD|protein_coding|CODING|NM_004012.3|31|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg477Gln/c.1430G>A|1225|DMD|protein_coding|CODING|NM_004013.2|16|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg208Gln/c.623G>A|956|DMD|protein_coding|CODING|NM_004014.2|5|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg477Gln/c.1430G>A|1115|DMD|protein_coding|CODING|NM_004020.3|16|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg477Gln/c.1430G>A|1243|DMD|protein_coding|CODING|NM_004021.2|16|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg477Gln/c.1430G>A|1230|DMD|protein_coding|CODING|NM_004022.2|16|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg477Gln/c.1430G>A|1133|DMD|protein_coding|CODING|NM_004023.2|16|1)",,,,,0.6476,0.8282,0.9386,0.96,0.99,0.94,,0.003095(N),0.000(P),"1.01,1.01,1.01,1.01,1.01,1.01,1.01,1.01(T,T,T,T,T,T,T,T)",0.0000(T),0.203,0.478310,5.4,4.23,-0.407000,0.789000,0.871000,0.659000,1.000000,0.998000,8.899
missense_variant,FAM47B,MISSENSE,NM_152631.2:p.Glu120Gln/c.358G>C,Gaa/Caa,MODERATE,,0.0225166,0,rs41305183,0.31(T),0.009(B),1.04(L),-0.9987(T),,chrX,34961306,34961306,G,C,hom,missense_variant(MODERATE|MISSENSE|Gaa/Caa|p.Glu120Gln/c.358G>C|645|FAM47B|protein_coding|CODING|NM_152631.2|1|1),,,,,0.0056,0.0286,0.0809,0.06,0.02,0.08,,,1.000(P),2.09(T),0.0019(T),0.046,-0.189971,0.843,-0.306,0.292000,-0.184000,0.080000,0.001000,0.000000,0.002000,2.5077
synonymous_variant,LANCL3,SILENT,NM_001170331.1:p.Ser263Ser/c.789C>T,agC/agT,LOW,,0.296954,0.0654,rs12009345,,,,,,chrX,37518806,37518806,C,T,hom,"synonymous_variant(LOW|SILENT|agC/agT|p.Ser263Ser/c.789C>T|420|LANCL3|protein_coding|CODING|NM_001170331.1|3|1),synonymous_variant(LOW|SILENT|agC/agT|p.Ser263Ser/c.789C>T|388|LANCL3|protein_coding|CODING|NM_198511.2|3|1)",,,,,0.2368,0.1947,0.1462,0.34,0.63,0.17,,,,,,,,,,,,,,,,
missense_variant,LANCL3,MISSENSE,NM_198511.2:p.Leu381Pro/c.1142T>C,cTg/cCg,MODERATE,,0.150464,0.0654,rs28503960,0.28(T),0.08(B),,-1.0493(T),,chrX,37527659,37527659,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu381Pro/c.1142T>C|388|LANCL3|protein_coding|CODING|NM_198511.2|5|1),intron_variant(MODIFIER|||c.1103+917T>C|420|LANCL3|protein_coding|CODING|NM_001170331.1|4|1)",,,,,0.2368,0.1317,0.1475,0.18,0.18,0.17,,,1.000(P),,0.0001(T),0.081,0.023659,2.17,2.17,0.430000,1.111000,0.193000,0.003000,0.001000,0.000000,5.629
missense_variant,SRPX,MISSENSE,NM_006307.4:p.Ser413Phe/c.1238C>T,tCc/tTc,MODERATE,,0.021457,0,rs35318931,0.53(T),"0.83,0.568,0.694(P,P,P)",1.245(L),-0.9988(T),,chrX,38009121,38009121,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser393Phe/c.1178C>T|444|SRPX|protein_coding|CODING|NM_001170750.1|9|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser354Phe/c.1061C>T|405|SRPX|protein_coding|CODING|NM_001170751.1|9|1),missense_variant(MODERATE|MISSENSE|tCc/tTc|p.Ser413Phe/c.1238C>T|464|SRPX|protein_coding|CODING|NM_006307.4|10|1),synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu372Leu/c.1116C>T|379|SRPX|protein_coding|CODING|NM_001170752.1|9|1)","HUVEC:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.0097,0.0286,0.0705,0.05,0.01,0.08,,0.000872(D),0.000(P),"0.87,0.87,0.87,0.87(T,T,T,T)",0.0092(T),0.142,2.838926,6.03,5.17,0.600000,1.301000,3.242000,0.998000,1.000000,1.000000,7.6485
synonymous_variant,RPGR,SILENT,NM_001034853.1:p.Ala388Ala/c.1164G>A,gcG/gcA,LOW,,0.0659603,0,rs1801686,,,,-1.0532(T),,chrX,38158290,38158290,C,T,hom,"synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala388Ala/c.1164G>A|815|RPGR|protein_coding|CODING|NM_000328.2|10|1),synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala388Ala/c.1164G>A|1152|RPGR|protein_coding|CODING|NM_001034853.1|10|1)",HSMM:H3K36me3,,RCV000078645.1|RCV000085044.1,,0.0292,0.063,0.1645,0.12,0.07,0.15,,,1.000(P),,0.0002(T),.,0.283315,4.95,-9.12,-0.522000,-1.756000,-2.506000,0.001000,0.000000,0.000000,2.9469
synonymous_variant,BCOR,SILENT,NM_001123385.1:p.Asp420Asp/c.1260T>C,gaT/gaC,LOW,COSM4156839(1),0.903046,0.9594,rs5917933,,,,,,chrX,39933339,39933339,A,G,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp420Asp/c.1260T>C|1721|BCOR|protein_coding|CODING|NM_001123383.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp420Asp/c.1260T>C|1703|BCOR|protein_coding|CODING|NM_001123384.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp420Asp/c.1260T>C|1755|BCOR|protein_coding|CODING|NM_001123385.1|4|1),synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp420Asp/c.1260T>C|1721|BCOR|protein_coding|CODING|NM_017745.5|4|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081809.3,,0.7967,0.9294,0.8799,0.90,0.92,0.88,,,,,,,,,,,,,,,,
synonymous_variant,CXorf38,SILENT,NM_144970.2:p.Leu26Leu/c.76T>C,Tta/Cta,LOW,COSM1132306(8),0.976689,1,rs6610447,,,,,,chrX,40506697,40506697,A,G,hom,synonymous_variant(LOW|SILENT|Tta/Cta|p.Leu26Leu/c.76T>C|319|CXorf38|protein_coding|CODING|NM_144970.2|1|1),"H1ESC:PolII,NHEK:H3K9ac,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,K562:PolII,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:PolII,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,CD4:H3K4me3,HepG2:PolII,GM12878:ELF1,GM12878:Yy1,H1ESC:H3K4me3,HepG2:HEY1,GM06990:H3K4me3,HUVEC:DNase1,GM12878:ZEB1,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:PolII,HepG2:TAF1,H1ESC:Jund,HepG2:DNase1,HeLa-S3:H3K4me3,HMEC:DNase1,GM12878:H3K9ac,HSMM:H3K4me3,GM12878:DNase1,HeLa-S3:Nrf1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.9819,0.9599,0.9334,0.96,0.99,0.94,,,,,,,,,,,,,,,,
synonymous_variant,GPR82,SILENT,NM_080817.4:p.Asp313Asp/c.939T>C,gaT/gaC,LOW,,0.865166,0.9777,rs1023065,,,,,,chrX,41587218,41587218,T,C,hom,"synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp313Asp/c.939T>C|336|GPR82|protein_coding|CODING|NM_080817.4|3|1),intron_variant(MODIFIER|||c.429+11419A>G|898|CASK|protein_coding|CODING|NM_001126054.2|5|1),intron_variant(MODIFIER|||c.429+11419A>G|897|CASK|protein_coding|CODING|NM_001126055.2|5|1),intron_variant(MODIFIER|||c.429+11419A>G|921|CASK|protein_coding|CODING|NM_003688.3|5|1)",,,,,0.8747,0.8989,0.7076,0.81,0.87,0.77,,,,,,,,,,,,,,,,
synonymous_variant,SLC9A7,SILENT,NM_001257291.1:p.Tyr609Tyr/c.1827C>T,taC/taT,LOW,,0.718411,0.7199,rs3208940,,,,,,chrX,46472826,46472826,G,A,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr609Tyr/c.1827C>T|726|SLC9A7|protein_coding|CODING|NM_001257291.1|16|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr608Tyr/c.1824C>T|725|SLC9A7|protein_coding|CODING|NM_032591.2|16|1)","H1ESC:H3K36me3,GM12878:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K27me3,GM06990:H3K36me3",,,,0.6908,0.6508,0.517,0.63,0.86,0.50,,,,,,,,,,,,,,,,
synonymous_variant,SLC9A7,SILENT,NM_001257291.1:p.Ala48Ala/c.144G>C,gcG/gcC,LOW,COSM4156851(1),0.766887,0.8626,rs1056846,,,,,,chrX,46618321,46618321,C,G,hom,"synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala48Ala/c.144G>C|726|SLC9A7|protein_coding|CODING|NM_001257291.1|1|1),synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala48Ala/c.144G>C|725|SLC9A7|protein_coding|CODING|NM_032591.2|1|1)","H1ESC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,K562:H3K27me3,GM12878:PolII,HepG2:H3K4me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.7563,0.6756,0.4661,0.61,0.91,0.45,,,,,,,,,,,,,,,,
synonymous_variant,ZNF630,SILENT,NM_001037735.3:p.Pro542Pro/c.1626C>T,ccC/ccT,LOW,,0.639735,0.8665,rs501128,,,,,,chrX,47918205,47918205,G,A,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro418Pro/c.1254C>T|533|ZNF630|protein_coding|CODING|NM_001282202.1|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro542Pro/c.1626C>T|657|ZNF630|protein_coding|CODING|NM_001037735.3|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro528Pro/c.1584C>T|643|ZNF630|protein_coding|CODING|NM_001190255.2|5|1),synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro542Pro/c.1626C>T|657|ZNF630|protein_coding|CODING|NM_001282201.1|5|1),intron_variant(MODIFIER|||n.123+2384G>A||ZNF630-AS1||NON_CODING|NR_046742.1|1|1)","H1ESC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3",,,,0.5334,0.6927,0.5405,0.55,0.57,0.54,,,,,,,,,,,,,,,,
synonymous_variant,SSX5,SILENT,NM_021015.3:p.Ser164Ser/c.492G>A,tcG/tcA,LOW,,0.909934,1,rs5906557,,,,,,chrX,48049666,48049666,C,T,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser164Ser/c.492G>A|229|SSX5|protein_coding|CODING|NM_021015.3|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser123Ser/c.369G>A|188|SSX5|protein_coding|CODING|NM_175723.1|6|1)",HUVEC:DNase1,,,,1,0.9656,1,0.89,0.71,1.00,,,,,,,,,,,,,,,,
missense_variant,SSX5,MISSENSE,NM_021015.3:p.Glu19Gln/c.55G>C,Gag/Cag,MODERATE,,0.859603,0.8874,rs4824675,0.14(T),"0.721,0.713(P,P)",2.785(M),-0.9920(T),,chrX,48054740,48054740,C,G,hom,"missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu19Gln/c.55G>C|229|SSX5|protein_coding|CODING|NM_021015.3|2|1),missense_variant(MODERATE|MISSENSE|Gag/Cag|p.Glu19Gln/c.55G>C|188|SSX5|protein_coding|CODING|NM_175723.1|2|1)",H1ESC:CTCF,,,,0.9861,0.8931,1,0.87,0.66,1.00,,0.494759(N),1.000(P),"2.2,5.68,5.68(T,T,T)",0.0000(T),0.092,1.520672,1.51,0.506,0.171000,0.095000,-0.198000,0.006000,0.035000,0.001000,5.1017
missense_variant,WDR13,MISSENSE,NM_017883.4:p.His325Arg/c.974A>G,cAt/cGt,MODERATE,COSM4156875(1),1,1,rs235842,0.28(T),0.0(B),-1.555(N),-0.9581(T),,chrX,48460314,48460314,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His233Arg/c.698A>G|393|WDR13|protein_coding|CODING|NM_001166426.1|5|1),missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His325Arg/c.974A>G|485|WDR13|protein_coding|CODING|NM_017883.4|6|1),non_coding_exon_variant(MODIFIER|||n.1445A>G||WDR13||CODING|NR_029427.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,1,1,1.00,1.00,1.00,,0.000002(N),1.000(P),"-0.14,-0.14(T,T)",0.0000(T),0.2,-0.866848,5.4,4.54,-0.405000,0.507000,3.190000,0.462000,0.626000,1.000000,9.3892
synonymous_variant,PCSK1N,SILENT,NM_013271.4:p.Leu150Leu/c.450C>A,ctC/ctA,LOW,COSM3759508(1),0.739603,0.7605,rs6520383,,,,,,chrX,48690416,48690416,G,T,hom,synonymous_variant(LOW|SILENT|ctC/ctA|p.Leu150Leu/c.450C>A|260|PCSK1N|protein_coding|CODING|NM_013271.4|2|1),"HUVEC:H3K27me3,H1ESC:H3K27me3,H1ESC:H3K4me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,0.7772,0.5477,0.5052,,,,,,,,,,,,,,,,,,,
synonymous_variant,TIMM17B,SILENT,NM_001167947.2:p.Ile126Ile/c.378T>C,atT/atC,LOW,COSM4156880(1),0.731656,0.7539,rs1128363,,,,,,chrX,48751471,48751471,A,G,hom,"synonymous_variant(LOW|SILENT|atT/atC|p.Ile126Ile/c.378T>C|222|TIMM17B|protein_coding|CODING|NM_001167947.2|6|1),synonymous_variant(LOW|SILENT|atT/atC|p.Ile76Ile/c.228T>C|172|TIMM17B|protein_coding|CODING|NM_005834.4|5|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.7688,0.5382,0.4935,0.67,0.92,0.54,,,,,,,,,,,,,,,,
synonymous_variant,TFE3,SILENT,NM_006521.5:p.Val441Val/c.1323A>G,gtA/gtG,LOW,COSM457623(1),0.231258,0.072,rs199492429,,,,,,chrX,48888074,48888074,T,C,hom,"synonymous_variant(LOW|SILENT|gtA/gtG|p.Val336Val/c.1008A>G|470|TFE3|protein_coding|CODING|NM_001282142.1|10|1),synonymous_variant(LOW|SILENT|gtA/gtG|p.Val441Val/c.1323A>G|575|TFE3|protein_coding|CODING|NM_006521.5|10|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2869,0.313,0.5496,0.36,0.08,0.53,,,,,,,,,,,,,,,,
missense_variant,MAGIX,MISSENSE,NM_024859.3:p.His112Arg/c.335A>G,cAt/cGt,MODERATE,,0.999735,1,rs5906744,0.61(T),"0.0,0.0,0.0(B,B,B)",-0.205(N),-1.0281(T),,chrX,49021256,49021256,A,G,hom,"missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His112Arg/c.335A>G|334|MAGIX|protein_coding|CODING|NM_024859.3|4|1),intron_variant(MODIFIER|||c.279+129A>G|258|MAGIX|protein_coding|CODING|NM_001099681.2|3|1),intron_variant(MODIFIER|||c.279+129A>G|253|MAGIX|protein_coding|CODING|NM_001099682.2|3|1)","K562:H3K36me3,H1ESC:H3K27me3",,,,0.9986,1,1,1.00,1.00,1.00,,0.671838(N),1.000(P),"2.08,2.02,1.9,1.78(T,T,T,T)",0.0000(T),0.092,-1.229632,4.66,-1.36,-1.140000,-0.646000,-0.113000,0.007000,0.000000,0.000000,6.1824
missense_variant,MAGIX,MISSENSE,NM_024859.3:p.Val173Leu/c.517G>C,Gtc/Ctc,MODERATE,COSM4156885(1),0.999735,1,rs5905720,,,0.52(N),-0.9957(T),,chrX,49021537,49021537,G,C,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val97Leu/c.289G>C|258|MAGIX|protein_coding|CODING|NM_001099681.2|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val97Leu/c.289G>C|253|MAGIX|protein_coding|CODING|NM_001099682.2|4|1),missense_variant(MODERATE|MISSENSE|Gtc/Ctc|p.Val173Leu/c.517G>C|334|MAGIX|protein_coding|CODING|NM_024859.3|5|1)","K562:H3K36me3,H1ESC:H3K27me3",,,,0.9986,1,1,1.00,1.00,1.00,,,1.000(P),,0.0000(T),.,-1.823176,4.17,4.17,-0.252000,0.880000,2.462000,0.047000,0.116000,0.984000,9.7514
missense_variant,MAGIX,MISSENSE,NM_024859.3:p.Phe323Leu/c.967T>C,Ttc/Ctc,MODERATE,COSM3759515(2),1,1,rs4824462,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.55(N),-0.9781(T),,chrX,49022700,49022700,T,C,hom,"missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe247Leu/c.739T>C|258|MAGIX|protein_coding|CODING|NM_001099681.2|5|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe323Leu/c.967T>C|334|MAGIX|protein_coding|CODING|NM_024859.3|6|1),missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe242Leu/c.724T>C|253|MAGIX|protein_coding|CODING|NM_001099682.2|5|1)","NHEK:CTCF,HeLa-S3:Cmyc,HeLa-S3:DNase1,NHEK:H3K4me3,HeLa-S3:Max,CD4:DNase1,H1ESC:H3K27me3,H1ESC:DNase1,HeLa-S3:CTCF,GM12878:CTCF,H1ESC:SIX5,HUVEC:DNase1,HMEC:CTCF,HeLa-S3:PolII,HeLa-S3:H3K27ac,HeLa-S3:Ap2alpha,CD4:CTCF,HeLa-S3:Ap2gamma,H1ESC:p300,HMEC:DNase1,HeLa-S3:E2F1,GM12878:DNase1,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,H1ESC:CTCF,HeLa-S3:E2F6",,,,1,1,1,,,,,,1.000(P),"2.32,2.64,2.33,2.16(T,T,T,T)",0.0000(T),0.146,-0.568276,3.84,0.554,-2.304000,-0.050000,-0.448000,0.012000,0.012000,0.060000,1.4939
synonymous_variant,NUDT10,SILENT,NM_153183.2:p.Tyr67Tyr/c.201C>T,taC/taT,LOW,,0.0982781,0.0157,rs12846945,,,,,,chrX,51076018,51076018,C,T,hom,synonymous_variant(LOW|SILENT|taC/taT|p.Tyr67Tyr/c.201C>T|164|NUDT10|protein_coding|CODING|NM_153183.2|2|1),"NHEK:H3K4me3,HUVEC:H3K27me3,HUVEC:H3K4me3,H1ESC:H3K4me2,CD4:H3K4me3,HMEC:H3K4me2,H1ESC:H3K4me3,NH-A:H3K4me3,K562:H3K27me3,NHEK:H3K27me3,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.0961,0.0763,0.1619,0.15,0.13,0.16,,,,,,,,,,,,,,,,
synonymous_variant,CXorf67,SILENT,NM_203407.2:p.Thr191Thr/c.573G>T,acG/acT,LOW,,0.125828,0.0524,rs17854399,,,,,,chrX,51150441,51150441,G,T,hom,synonymous_variant(LOW|SILENT|acG/acT|p.Thr191Thr/c.573G>T|503|CXorf67|protein_coding|CODING|NM_203407.2|1|1),,,,,0.0947,0.0821,0.1567,0.18,0.21,0.16,,,,,,,,,,,,,,,,
synonymous_variant,SPANXN5,SILENT,NM_001009616.3:p.Leu67Leu/c.201G>C,ctG/ctC,LOW,,0.979073,1,rs2806838,,,,,,chrX,52825546,52825546,C,G,hom,synonymous_variant(LOW|SILENT|ctG/ctC|p.Leu67Leu/c.201G>C|72|SPANXN5|protein_coding|CODING|NM_001009616.3|2|1),IMR90:H3K27me3,,,,0.9721,0.9771,0.9726,0.97,0.98,0.97,,,,,,,,,,,,,,,,
synonymous_variant,XAGE3,SILENT,NM_130776.1:p.Gln110Gln/c.330G>A,caG/caA,LOW,COSM287951(2),,,rs73206488,,,,,,chrX,52891653,52891653,C,T,het,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln110Gln/c.330G>A|111|XAGE3|protein_coding|CODING|NM_130776.1|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln110Gln/c.330G>A|111|XAGE3|protein_coding|CODING|NM_133179.2|5|1)",IMR90:H3K27me3,,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,HUWE1,SILENT,NM_031407.6:p.Gly4059Gly/c.12177T>C,ggT/ggC,LOW,,0.994967,1,rs426298,,,,-1.0298(T),,chrX,53563589,53563589,A,G,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly4059Gly/c.12177T>C|4374|HUWE1|protein_coding|CODING|NM_031407.6|79|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000082281.3,,1,0.9981,1,0.99,0.98,1.00,,,0.000(P),,0.0000(T),.,0.822543,5.5,0.0708,-1.211000,-0.210000,-0.388000,0.750000,0.997000,0.431000,0.8783
missense_variant,FAM120C,MISSENSE,NM_017848.5:p.Ile82Thr/c.245T>C,aTt/aCt,MODERATE,COSM3749793(9),1,1,rs2495783,0.53(T),"0.0,0.0,0.0(B,B,B)",0(N),-1.0093(T),,chrX,54209387,54209387,A,G,hom,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile82Thr/c.245T>C|1096|FAM120C|protein_coding|CODING|NM_017848.5|1|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile82Thr/c.245T>C|895|FAM120C|protein_coding|CODING|NM_001300788.1|1|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile82Thr/c.245T>C|238|FAM120C|protein_coding|CODING|NM_198456.2|1|1)","NHEK:H3K9ac,K562:H3K4me3,K562:PolII,H1ESC:H3K9ac,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K9ac,H1ESC:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:PolII,IMR90:H3K27ac,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,HepG2:H3K9ac,CD4:PolII,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,1,1,,,,,,1.000(P),"2.01,1.54,0.99(T,T,T)",0.0000(T),0.122,-1.460349,3.42,2.53,-0.287000,0.138000,0.687000,0.289000,0.924000,0.014000,5.8502
missense_variant,PFKFB1,MISSENSE,NM_002625.3:p.Ile167Thr/c.500T>C,aTt/aCt,MODERATE,,,,,0(D),"0.977,0.99(D,D)",4.075(H),0.4676(D),,chrX,54984755,54984755,A,G,het,"missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile145Thr/c.434T>C|449|PFKFB1|protein_coding|CODING|NM_001271804.1|6|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile102Thr/c.305T>C|406|PFKFB1|protein_coding|CODING|NM_001271805.1|5|1),missense_variant(MODERATE|MISSENSE|aTt/aCt|p.Ile167Thr/c.500T>C|471|PFKFB1|protein_coding|CODING|NM_002625.3|6|1),non_coding_exon_variant(MODIFIER|||n.477T>C||PFKFB1||CODING|NR_073450.1|5|1)",,,,,,,,,,,,0.000000(D),1.000(D),,0.6141(D),0.916,3.747545,4.08,4.08,0.486000,1.583000,9.019000,0.902000,0.970000,1.000000,11.8147
missense_variant,PAGE2,MISSENSE,NM_207339.2:p.Leu5Val/c.13C>G,Cta/Gta,MODERATE,,0.93351,1,rs1845444,1(T),0.0(B),-2.39(N),-0.9774(T),,chrX,55116466,55116466,C,G,hom,missense_variant(MODERATE|MISSENSE|Cta/Gta|p.Leu5Val/c.13C>G|111|PAGE2|protein_coding|CODING|NM_207339.2|2|1),,,,,0.9777,0.979,0.9948,0.92,0.80,0.99,,,1.000(P),"2.31,1.57,2.01(T,T,T)",0.0000(T),0.166,-3.053347,0.749,-0.443,-1.095000,-0.952000,-0.300000,0.005000,0.000000,0.000000,.
synonymous_variant,MAGEH1,SILENT,NM_014061.4:p.Gly164Gly/c.492G>A,ggG/ggA,LOW,COSM3759528(2),0.265695,0.3743,rs11545211,,,,,,chrX,55479299,55479299,G,A,hom,"synonymous_variant(LOW|SILENT|ggG/ggA|p.Gly164Gly/c.492G>A|219|MAGEH1|protein_coding|CODING|NM_014061.4|1|1),downstream_gene_variant(MODIFIER||1346|||MIR4536-1||NON_CODING|NR_039764.1||1)","K562:H3K4me3,NHEK:H3K4me3,IMR90:H3K9ac,GM12878:H3K4me3,HUVEC:H3K4me3,HUVEC:H3K9ac,IMR90:DNase1,CD4:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HUVEC:H3K4me2,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,0.3148,0.4313,0.2937,0.21,0.08,0.28,,,,,,,,,,,,,,,,
missense_variant,FOXR2,MISSENSE,NM_198451.3:p.Val286Ala/c.857T>C,gTc/gCc,MODERATE,COSM4156947(2),0.811656,1,rs2375465,1(T),0.001(B),-1.175(N),-0.9686(T),,chrX,55651001,55651001,T,C,hom,missense_variant(MODERATE|MISSENSE|gTc/gCc|p.Val286Ala/c.857T>C|311|FOXR2|protein_coding|CODING|NM_198451.3|1|1),"HeLa-S3:DNase1,NHEK:H3K27me3",,,,0.9401,0.9294,0.9726,0.80,0.50,0.97,,0.628961(N),1.000(P),-3.16(D),0.0000(T),0.037,-1.103155,3.54,1.2,-0.170000,-0.090000,0.685000,0.012000,0.001000,0.998000,4.4161
synonymous_variant,FAAH2,SILENT,NM_174912.3:p.Gly33Gly/c.99T>C,ggT/ggC,LOW,COSM3759529(1),0.529801,0.3861,rs2516023,,,,,,chrX,57313357,57313357,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly33Gly/c.99T>C|532|FAAH2|protein_coding|CODING|NM_174912.3|1|1),"NHEK:H3K9ac,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,H1ESC:TAF1,CD4:H2BK5ac,GM12878:H3K4me3,CD4:DNase1,HeLa-S3:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,HepG2:H3K4me3,CD4:PolII,NHEK:H3K4me2,HeLa-S3:H3K4me3,CD4:H2BK120ac,HMEC:H3K4me3",,,,0.3886,0.4656,0.2833,0.49,0.88,0.27,,,,,,,,,,,,,,,,
synonymous_variant,FAAH2,SILENT,NM_174912.3:p.Arg274Arg/c.822T>C,cgT/cgC,LOW,,0.918146,1,rs4826543,,,,,,chrX,57405163,57405163,T,C,hom,synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg274Arg/c.822T>C|532|FAAH2|protein_coding|CODING|NM_174912.3|6|1),,,,,1,0.958,0.9987,0.91,0.76,1.00,,,,,,,,,,,,,,,,
missense_variant,ZXDB,MISSENSE,NM_007157.3:p.Glu122Lys/c.364G>A,Gag/Aag,MODERATE,COSM225105(3),,,rs199513692,0.3(T),0.027(B),0.805(L),-1.0499(T),,chrX,57618845,57618845,G,A,het,missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu122Lys/c.364G>A|803|ZXDB|protein_coding|CODING|NM_007157.3|1|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,HeLa-S3:E2F1,CD4:H3K9ac,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,CD4:H2BK12ac",,,,,,,,,,,0.626423(N),1.000(N),1.39(T),0.0629(T),0.077,0.850716,2.93,2.93,0.556000,1.402000,0.974000,0.079000,0.635000,0.001000,11.3184
missense_variant,ZXDB,MISSENSE,NM_007157.3:p.Glu123Ala/c.368A>C,gAg/gCg,MODERATE,COSM225106(4),,,rs200267267,1(T),0.0(B),-0.345(N),-0.9921(T),,chrX,57618849,57618849,A,C,het,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu123Ala/c.368A>C|803|ZXDB|protein_coding|CODING|NM_007157.3|1|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,GM12878:Yy1,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,CD4:H3K9ac,HepG2:Yy1,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,CD4:H2BK12ac",,,,,,,,,,,0.112191(N),1.000(N),1.77(T),0.0163(T),0.055,-2.782788,2.93,-2.1,-1.280000,-0.362000,-2.328000,0.054000,0.040000,0.000000,3.1899
missense_variant,ZXDB,MISSENSE,NM_007157.3:p.Gly130Asp/c.389G>A,gGc/gAc,MODERATE,COSM4156952(2),,,rs189164178,0.48(T),0.002(B),0.895(L),-1.0473(T),,chrX,57618870,57618870,G,A,het,missense_variant(MODERATE|MISSENSE|gGc/gAc|p.Gly130Asp/c.389G>A|803|ZXDB|protein_coding|CODING|NM_007157.3|1|1),"NHEK:H3K9ac,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,H1ESC:H3K9ac,K562:PolII,NHEK:H3K4me3,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,CD4:H2BK20ac,HUVEC:H3K9ac,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:DNase1,IMR90:H3K36me3,HeLa-S3:PolII,HeLa-S3:H3K27ac,GM12878:PolII,HepG2:H3K4me3,CD4:H3K4ac,HepG2:H3K9ac,HepG2:TAF1,HepG2:DNase1,HeLa-S3:H3K4me3,CD4:H2BK120ac,HSMM:H3K4me3,CD4:H3K9ac,GM06990:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,CD4:H2BK12ac",,,,,,,,,,,0.412819(N),1.000(P),1.39(T),0.0015(T),0.1,-0.781881,2.27,1.38,0.556000,0.374000,0.023000,0.027000,0.001000,0.000000,6.4732
synonymous_variant,ZXDB,SILENT,NM_007157.3:p.Pro389Pro/c.1167G>T,ccG/ccT,LOW,,0.996026,1,rs1057328,,,,,,chrX,57619648,57619648,G,T,hom,synonymous_variant(LOW|SILENT|ccG/ccT|p.Pro389Pro/c.1167G>T|803|ZXDB|protein_coding|CODING|NM_007157.3|1|1),"HeLa-S3:DNase1,GM12878:H3K4me3,HUVEC:CTCF,HSMM:H3K36me3,H1ESC:H3K4me3,HeLa-S3:CTCF,IMR90:H3K36me3,HMEC:CTCF,HeLa-S3:PolII,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:CTCF,HeLa-S3:H3K4me3,HepG2:DNase1,HSMM:H3K4me3,GM06990:H3K36me3,HMEC:H3K4me3",,,,1,0.9924,0.9974,0.00,0.01,0.00,,,,,,,,,,,,,,,,
missense_variant,HEPH,MISSENSE,NM_138737.4:p.Val39Ala/c.116T>C,gTg/gCg,MODERATE,,0.920795,0.9974,rs5919015,,,0(N),-0.9721(T),,chrX,65382685,65382685,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val39Ala/c.116T>C|1212|HEPH|protein_coding|CODING|NM_138737.4|1|1),upstream_gene_variant(MODIFIER||1387||1160|HEPH|protein_coding|CODING|NM_001130860.3||1),upstream_gene_variant(MODIFIER||1387||969|HEPH|protein_coding|CODING|NM_001282141.1||1),upstream_gene_variant(MODIFIER||1387||891|HEPH|protein_coding|CODING|NM_014799.3||1)","K562:H3K4me3,K562:PolII,K562:H3K27ac,K562:H3K9ac,K562:H3K4me2,K562:DNase1",,,,0.9499,0.9141,0.7324,0.78,0.97,0.69,,,1.000(P),-5.68(D),0.0000(T),0.009,-1.874961,5.17,-4.38,-0.863000,-2.211000,-0.196000,0.001000,0.000000,0.001000,4.8755
synonymous_variant,HEPH,SILENT,NM_138737.4:p.Tyr819Tyr/c.2457T>C,taT/taC,LOW,,0.349669,0.0013,rs386615160,,,,,,chrX,65427040,65427040,T,C,hom,"synonymous_variant(LOW|SILENT|taT/taC|p.Tyr768Tyr/c.2304T>C|1160|HEPH|protein_coding|CODING|NM_001130860.3|14|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr576Tyr/c.1728T>C|969|HEPH|protein_coding|CODING|NM_001282141.1|11|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr498Tyr/c.1494T>C|891|HEPH|protein_coding|CODING|NM_014799.3|13|1),synonymous_variant(LOW|SILENT|taT/taC|p.Tyr819Tyr/c.2457T>C|1212|HEPH|protein_coding|CODING|NM_138737.4|14|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.0905,0.2634,0.2245,0.45,0.85,0.22,,,,,,,,,,,,,,,,
synonymous_variant,HEPH,SILENT,NM_138737.4:p.Thr847Thr/c.2541A>G,acA/acG,LOW,,0.245828,0.0013,rs809363,,,,,,chrX,65427124,65427124,A,G,hom,"synonymous_variant(LOW|SILENT|acA/acG|p.Thr796Thr/c.2388A>G|1160|HEPH|protein_coding|CODING|NM_001130860.3|14|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr604Thr/c.1812A>G|969|HEPH|protein_coding|CODING|NM_001282141.1|11|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr526Thr/c.1578A>G|891|HEPH|protein_coding|CODING|NM_014799.3|13|1),synonymous_variant(LOW|SILENT|acA/acG|p.Thr847Thr/c.2541A>G|1212|HEPH|protein_coding|CODING|NM_138737.4|14|1)","K562:H3K36me3,HepG2:H3K36me3",,,,0.0905,0.2309,0.2089,0.32,0.51,0.21,,,,,,,,,,,,,,,,
missense_variant,EDA2R,MISSENSE,NM_001242310.1:p.Thr129Ala/c.385A>G,Aca/Gca,MODERATE,,0.929007,1,rs1385698,0.83(T),"0.0,0.0(B,B)",-0.345(N),-1.0181(T),,chrX,65822607,65822607,T,C,hom,"missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr129Ala/c.385A>G|297|EDA2R|protein_coding|CODING|NM_001199687.2|5|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr129Ala/c.385A>G|318|EDA2R|protein_coding|CODING|NM_001242310.1|4|1),missense_variant(MODERATE|MISSENSE|Aca/Gca|p.Thr129Ala/c.385A>G|297|EDA2R|protein_coding|CODING|NM_021783.3|5|1)","NH-A:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,HepG2:H3K36me3",,,,1,0.9828,1,0.92,0.78,1.00,,0.791176(N),1.000(P),"-1.77,-1.77,-1.79,-1.77,-1.79(D,D,D,D,D)",0.0000(T),0.064,1.136502,4.37,3.49,-0.170000,0.170000,-0.049000,0.845000,0.301000,0.000000,6.8935
synonymous_variant,AR,SILENT,NM_000044.3:p.Gly461Gly/c.1383C>T,ggC/ggT,LOW,,,,,,,,,,chrX,66766371,66766371,C,T,het,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly461Gly/c.1383C>T|920|AR|protein_coding|CODING|NM_000044.3|1|1),"HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:H3K4me3,HUVEC:DNase1,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,P2RY4,SILENT,NM_002565.3:p.Arg242Arg/c.726C>A,cgC/cgA,LOW,,0.173245,0.3704,rs3829708,,,,,,chrX,69478749,69478749,G,T,hom,synonymous_variant(LOW|SILENT|cgC/cgA|p.Arg242Arg/c.726C>A|365|P2RY4|protein_coding|CODING|NM_002565.3|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.1894,0.0992,0.0509,0.08,0.12,0.06,,,,,,,,,,,,,,,,
missense_variant,P2RY4,MISSENSE,NM_002565.3:p.Ser234Ala/c.700T>G,Tct/Gct,MODERATE,,0.204768,0.3704,rs3829709,0.86(T),0.001(B),0.255(N),-0.9626(T),,chrX,69478775,69478775,A,C,hom,missense_variant(MODERATE|MISSENSE|Tct/Gct|p.Ser234Ala/c.700T>G|365|P2RY4|protein_coding|CODING|NM_002565.3|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.1936,0.1145,0.0509,0.11,0.21,0.06,,0.260870(N),1.000(P),2.09(T),0.0000(T),0.018,-2.468299,4.43,1.55,-0.183000,-0.228000,0.076000,0.009000,0.001000,0.008000,1.122
missense_variant,P2RY4,MISSENSE,NM_002565.3:p.Asn178Thr/c.533A>C,aAc/aCc,MODERATE,,0.419603,0.5445,rs1152187,0.59(T),0.0(B),-0.645(N),-0.9928(T),,chrX,69478942,69478942,T,G,hom,missense_variant(MODERATE|MISSENSE|aAc/aCc|p.Asn178Thr/c.533A>C|365|P2RY4|protein_coding|CODING|NM_002565.3|1|1),"GM12878:H3K36me3,K562:H3K27me3",,,,0.3607,0.1832,0.1436,0.33,0.64,0.15,,0.217713(N),1.000(P),2.11(T),0.0000(T),0.018,-1.379396,4.29,1.42,-0.269000,-0.262000,0.507000,0.362000,0.008000,0.021000,2.8679
synonymous_variant,ARR3,SILENT,NM_004312.2:p.Ser9Ser/c.27C>T,agC/agT,LOW,,0.188874,0.4018,rs3818862,,,,,,chrX,69489530,69489530,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser9Ser/c.27C>T|388|ARR3|protein_coding|CODING|NM_004312.2|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.2284,0.1031,0.0574,0.08,0.12,0.06,,,,,,,,,,,,,,,,
missense_variant,ARR3,MISSENSE,NM_004312.2:p.Arg186Cys/c.556C>T,Cgc/Tgc,MODERATE,,,,rs145241324,0.02(D),"0.446,0.711(B,P)",1.61(L),-1.0507(T),,chrX,69497326,69497326,C,T,het,missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg186Cys/c.556C>T|388|ARR3|protein_coding|CODING|NM_004312.2|9|1),"GM12878:H3K36me3,K562:H3K27me3",,,,,,,0.00,0.00,0.00,,0.662480(N),1.000(N),"2.48,2.9(T,T)",0.0564(T),0.252,2.749137,4.61,2.69,0.513000,0.263000,1.380000,0.790000,0.027000,0.005000,11.6082
synonymous_variant,KIF4A,SILENT,NM_012310.4:p.Pro9Pro/c.27C>T,ccC/ccT,LOW,,0.995232,1,rs1199470,,,,,,chrX,69510335,69510335,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro9Pro/c.27C>T|1232|KIF4A|protein_coding|CODING|NM_012310.4|2|1),upstream_gene_variant(MODIFIER||537||140|PDZD11|protein_coding|CODING|NM_016484.4||1)","NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,NHEK:H3K4me3,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HepG2:H3K27ac,CD4:H3K4me3,H1ESC:H3K4me3,GM06990:H3K4me3,NH-A:H3K4me3,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:H3K4me3,CD4:H3K4me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,HepG2:H3K27me3,K562:H3K4me2,HMEC:H3K4me3,IMR90:H3K4me3",,,,1,0.9771,0.9922,0.99,1.00,0.99,,,,,,,,,,,,,,,,
synonymous_variant,KIF4A,SILENT,NM_012310.4:p.Tyr329Tyr/c.987T>C,taT/taC,LOW,,0.102781,0.1531,rs41305391,,,,,,chrX,69550098,69550098,T,C,hom,synonymous_variant(LOW|SILENT|taT/taC|p.Tyr329Tyr/c.987T>C|1232|KIF4A|protein_coding|CODING|NM_012310.4|9|1),"HUVEC:H3K36me3,K562:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1685,0.0859,0.0496,0.05,0.05,0.05,,,,,,,,,,,,,,,,
synonymous_variant,TEX11,SILENT,NM_001003811.1:p.Thr773Thr/c.2319T>A,acT/acA,LOW,,0.976424,1,rs4844240,,,,,,chrX,69774517,69774517,A,T,hom,"synonymous_variant(LOW|SILENT|acT/acA|p.Thr773Thr/c.2319T>A|940|TEX11|protein_coding|CODING|NM_001003811.1|27|1),synonymous_variant(LOW|SILENT|acT/acA|p.Thr758Thr/c.2274T>A|925|TEX11|protein_coding|CODING|NM_031276.2|26|1)",HUVEC:H3K27me3,,,,1,0.9962,0.9987,0.98,0.94,1.00,,,,,,,,,,,,,,,,
synonymous_variant,SLC7A3,SILENT,NM_001048164.2:p.Ser533Ser/c.1599T>C,agT/agC,LOW,,0.812185,0.9948,rs4360450,,,,,,chrX,70146398,70146398,A,G,hom,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser533Ser/c.1599T>C|619|SLC7A3|protein_coding|CODING|NM_001048164.2|10|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser533Ser/c.1599T>C|619|SLC7A3|protein_coding|CODING|NM_032803.5|10|1)","H1ESC:H3K36me3,NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,0.9109,0.8053,0.6292,0.69,0.76,0.65,,,,,,,,,,,,,,,,
synonymous_variant,RGAG4,SILENT,NM_001024455.3:p.Arg546Arg/c.1638C>T,cgC/cgT,LOW,COSM4157010(1),0.307285,0.0393,rs12397326,,,,,,chrX,71349753,71349753,G,A,hom,"synonymous_variant(LOW|SILENT|cgC/cgT|p.Arg546Arg/c.1638C>T|569|RGAG4|protein_coding|CODING|NM_001024455.3|1|1),intron_variant(MODIFIER|||c.281-2176G>A|1225|NHSL2|protein_coding|CODING|NM_001013627.2|1|1)","H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3064,0.5,0.7794,0.57,0.16,0.79,,,,,,,,,,,,,,,,
synonymous_variant,RGAG4,SILENT,NM_001024455.3:p.Gly539Gly/c.1617A>G,ggA/ggG,LOW,,0.385166,0.1571,rs12393722,,,,,,chrX,71349774,71349774,T,C,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly539Gly/c.1617A>G|569|RGAG4|protein_coding|CODING|NM_001024455.3|1|1),intron_variant(MODIFIER|||c.281-2155T>C|1225|NHSL2|protein_coding|CODING|NM_001013627.2|1|1)","H1ESC:H3K27me3,IMR90:H3K36me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.429,0.5553,0.7833,0.61,0.24,0.79,,,,,,,,,,,,,,,,
synonymous_variant,NHSL2,SILENT,NM_001013627.2:p.Pro1223Pro/c.3669C>T,ccC/ccT,LOW,,0.926623,1,rs6624597,,,,,,chrX,71363415,71363415,C,T,hom,"synonymous_variant(LOW|SILENT|ccC/ccT|p.Pro1223Pro/c.3669C>T|1225|NHSL2|protein_coding|CODING|NM_001013627.2|8|1),upstream_gene_variant(MODIFIER||619||140|FLJ44635|protein_coding|CODING|NM_207422.2||1)","HUVEC:H3K36me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9771,0.9987,0.92,0.76,1.00,,,,,,,,,,,,,,,,
missense_variant,FLJ44635,MISSENSE,NM_207422.2:p.Ile8Thr/c.23T>C,aTc/aCc,MODERATE,,0.363444,0.0419,rs7884806,,,,,,chrX,71379702,71379702,T,C,hom,missense_variant(MODERATE|MISSENSE|aTc/aCc|p.Ile8Thr/c.23T>C|140|FLJ44635|protein_coding|CODING|NM_207422.2|2|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3203,0.5153,0.7245,0.59,0.31,0.74,,,,,,,,,,,,,,,,
synonymous_variant,FLJ44635,SILENT,NM_207422.2:p.Ser58Ser/c.174C>T,tcC/tcT,LOW,,0.363444,0.0419,rs7880917,,,,,,chrX,71379853,71379853,C,T,hom,synonymous_variant(LOW|SILENT|tcC/tcT|p.Ser58Ser/c.174C>T|140|FLJ44635|protein_coding|CODING|NM_207422.2|2|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.3203,0.5153,0.7245,0.59,0.32,0.74,,,,,,,,,,,,,,,,
missense_variant,PIN4,MISSENSE,NM_006223.3:p.Arg16Gln/c.47G>A,cGg/cAg,MODERATE,COSM1469288(2),0.712848,0.5366,rs6525589,1(T),"0.0,0.0(B,B)",0(N),-0.9805(T),,chrX,71401607,71401607,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg16Gln/c.47G>A|133|PIN4|protein_coding|CODING|NM_001170747.1|1|1),missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg16Gln/c.47G>A|156|PIN4|protein_coding|CODING|NM_006223.3|1|1),non_coding_exon_variant(MODIFIER|||n.82G>A||PIN4||CODING|NR_033187.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HepG2:HNF4A,HeLa-S3:H3K27ac,HepG2:H3K4me3,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:Max,GM12878:DNase1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.7242,0.8015,0.97,0.84,0.63,0.96,,0.054502(N),1.000(P),,0.0000(T),0.009,1.647720,4.89,-2.0,-0.453000,-0.975000,-1.628000,0.007000,0.000000,0.000000,5.5761
missense_variant,PIN4,MISSENSE,NM_006223.3:p.Ser18Arg/c.54C>A,agC/agA,MODERATE,COSM1469289(2),0.712848,0.5366,rs7058353,0.98(T),"0.0,0.0(B,B)",-0.975(N),-1.0015(T),,chrX,71401614,71401614,C,A,hom,"missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser18Arg/c.54C>A|133|PIN4|protein_coding|CODING|NM_001170747.1|1|1),missense_variant(MODERATE|MISSENSE|agC/agA|p.Ser18Arg/c.54C>A|156|PIN4|protein_coding|CODING|NM_006223.3|1|1),non_coding_exon_variant(MODIFIER|||n.89C>A||PIN4||CODING|NR_033187.1|1|1)","H1ESC:PolII,NHEK:H3K9ac,K562:Max,HeLa-S3:Cmyc,K562:H3K4me3,HeLa-S3:DNase1,H1ESC:H3K9ac,HUVEC:Max,NHEK:H3K4me3,H1ESC:TAF1,IMR90:H3K9ac,K562:H3K27ac,GM12878:H3K4me3,HUVEC:H3K4me3,HeLa-S3:Max,CD4:DNase1,HeLa-S3:H3K9ac,HUVEC:H3K9ac,HepG2:H3K27ac,IMR90:DNase1,H1ESC:DNase1,HeLa-S3:TAF1,CD4:H3K4me3,HepG2:PolII,GM12878:Yy1,K562:Cfos,H1ESC:H3K4me3,GM06990:H3K4me3,HepG2:HEY1,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,NH-A:H3K27ac,HSMM:H3K9ac,K562:Cmyc,HUVEC:Cmyc,HeLa-S3:PolII,K562:H3K9ac,NHEK:H3K27me3,HepG2:HNF4A,HeLa-S3:H3K27ac,HepG2:H3K4me3,HUVEC:H3K27ac,HeLa-S3:H3K4me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,GM12878:Max,GM12878:DNase1,HepG2:Yy1,K562:H3K4me2,GM06990:DNase1,HMEC:H3K4me3,NHEK:DNase1,IMR90:H3K4me3,K562:DNase1",,,,0.7242,0.7996,0.97,0.84,0.63,0.96,,0.209147(N),1.000(P),,0.0000(T),0.015,1.055996,4.89,-4.79,-0.500000,-1.667000,-0.809000,0.014000,0.000000,0.000000,3.9722
synonymous_variant,RPS4X,SILENT,NM_001007.4:p.Leu164Leu/c.492G>A,ttG/ttA,LOW,COSM1469302(1),0.303046,0.0118,rs7580,,,,,,chrX,71493691,71493691,C,T,hom,synonymous_variant(LOW|SILENT|ttG/ttA|p.Leu164Leu/c.492G>A|263|RPS4X|protein_coding|CODING|NM_001007.4|5|1),"H1ESC:H3K36me3,GM12878:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3,NHEK:DNase1",,,,0.2981,0.4924,0.7402,0.55,0.16,0.77,,,,,,,,,,,,,,,,
missense_variant,CITED1,MISSENSE,NM_001144885.1:p.His122Gln/c.366C>G,caC/caG,MODERATE,,0.809272,0.4738,rs3012627,1(T),"0.0,0.0(B,B)",-0.875(N),-0.9518(T),,chrX,71521867,71521867,G,C,hom,"missense_variant(MODERATE|MISSENSE|caC/caG|p.His122Gln/c.366C>G|219|CITED1|protein_coding|CODING|NM_001144885.1|4|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His96Gln/c.288C>G|193|CITED1|protein_coding|CODING|NM_001144886.1|3|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His96Gln/c.288C>G|193|CITED1|protein_coding|CODING|NM_001144887.1|3|1),missense_variant(MODERATE|MISSENSE|caC/caG|p.His96Gln/c.288C>G|193|CITED1|protein_coding|CODING|NM_004143.3|3|1)","GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.8719,0.7939,0.8603,0.91,0.97,0.88,,0.000001(N),0.000(P),"0.07,0.07,0.07,0.07,0.07,0.07,0.07(T,T,T,T,T,T,T)",0.0000(T),0.266,-0.845509,5.54,2.83,-1.708000,0.191000,1.629000,0.715000,1.000000,1.000000,6.3327
missense_variant,SLC16A2,MISSENSE,NM_006517.4:p.Ser33Pro/c.97T>C,Tct/Cct,MODERATE,COSM458039(7),0.663841,0.9712,rs6647476,0.47(T),0.403(B),-1.52(N),-0.8803(T),,chrX,73641569,73641569,T,C,hom,missense_variant(MODERATE|MISSENSE|Tct/Cct|p.Ser33Pro/c.97T>C|539|SLC16A2|protein_coding|CODING|NM_006517.4|1|1),"NHEK:H3K4me3,HUVEC:H3K4me3,H1ESC:H3K27me3,H1ESC:DNase1,H1ESC:H3K4me3,HUVEC:DNase1,HSMM:DNase1,K562:H3K27me3,HepG2:DNase1,HMEC:DNase1,HSMM:H3K4me3,HepG2:H3K27me3,HMEC:H3K4me3,IMR90:H3K4me3",,RCV000020650.1|RCV000081443.1,,0.7145,0.4084,0.4373,0.46,0.62,0.37,,0.388737(N),1.000(P),-0.39(T),0.0000(T),0.134,-3.547578,.,.,0.000000,-0.420000,-0.390000,0.047000,0.097000,0.057000,.
synonymous_variant,RLIM,SILENT,NM_016120.3:p.Ser485Ser/c.1455T>C,agT/agC,LOW,COSM1636605(1),,,rs374955178,,,,,,chrX,73811695,73811695,A,G,het,"synonymous_variant(LOW|SILENT|agT/agC|p.Ser485Ser/c.1455T>C|624|RLIM|protein_coding|CODING|NM_016120.3|4|1),synonymous_variant(LOW|SILENT|agT/agC|p.Ser485Ser/c.1455T>C|624|RLIM|protein_coding|CODING|NM_183353.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,RLIM,SILENT,NM_016120.3:p.Ser471Ser/c.1413A>T,tcA/tcT,LOW,COSM2155576(1),,,rs113198776,,,,,,chrX,73811737,73811737,T,A,het,"synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser471Ser/c.1413A>T|624|RLIM|protein_coding|CODING|NM_016120.3|4|1),synonymous_variant(LOW|SILENT|tcA/tcT|p.Ser471Ser/c.1413A>T|624|RLIM|protein_coding|CODING|NM_183353.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,RLIM,MISSENSE,NM_016120.3:p.Ser471Pro/c.1411T>C,Tca/Cca,MODERATE,COSM2155575(1),,,rs201164156,0.22(T),0.1(B),0(N),-0.7951(T),,chrX,73811739,73811739,A,G,het,"missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser471Pro/c.1411T>C|624|RLIM|protein_coding|CODING|NM_016120.3|4|1),missense_variant(MODERATE|MISSENSE|Tca/Cca|p.Ser471Pro/c.1411T>C|624|RLIM|protein_coding|CODING|NM_183353.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,0.514165(U),1.000(N),"-1.96,-1.96(D,D)",0.2164(T),0.391,-2.619369,1.66,0.0881,0.441000,0.675000,0.068000,0.011000,0.012000,0.991000,3.7245
synonymous_variant,RLIM,SILENT,NM_016120.3:p.Ser465Ser/c.1395G>C,tcG/tcC,LOW,COSM2155574(1),0.0124503,0,rs7883332,,,,,,chrX,73811755,73811755,C,G,het,"synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser465Ser/c.1395G>C|624|RLIM|protein_coding|CODING|NM_016120.3|4|1),synonymous_variant(LOW|SILENT|tcG/tcC|p.Ser465Ser/c.1395G>C|624|RLIM|protein_coding|CODING|NM_183353.2|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.0056,0.0038,0.0078,,,,,,,,,,,,,,,,,,,
synonymous_variant,UPRT,SILENT,NM_145052.3:p.Arg127Arg/c.381T>G,cgT/cgG,LOW,COSM4157020(1),0.925563,1,rs4892396,,,,,,chrX,74494470,74494470,T,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgG|p.Arg127Arg/c.381T>G|309|UPRT|protein_coding|CODING|NM_145052.3|1|1),non_coding_exon_variant(MODIFIER|||n.577T>G||UPRT||CODING|NR_030774.1|1|1)","NHEK:H3K9ac,CD4:H2AZ,K562:H3K4me3,HeLa-S3:DNase1,CD4:H3K18ac,NHEK:H3K4me3,IMR90:H3K9ac,CD4:H2BK5ac,GM12878:H3K4me3,HUVEC:H3K4me3,CD4:H4K91ac,CD4:DNase1,GM12878:H3K27ac,HSMM:H3K27ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K4me2,HUVEC:H3K9ac,H1ESC:DNase1,CD4:H3K4me3,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NH-A:H3K4me3,HSMM:DNase1,NH-A:DNase1,HSMM:H3K9ac,HeLa-S3:PolII,CD4:H3K36ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,CD4:H3K4ac,HeLa-S3:H3K4me3,HepG2:DNase1,CD4:H2BK120ac,HSMM:H3K4me3,HepG2:H3K27me3,CD4:H3K9ac,K562:SP1,K562:H3K4me2,GM06990:DNase1,NHEK:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,1,0.9714,1,0.90,0.74,1.00,,,,,,,,,,,,,,,,
missense_variant,ATP7A,MISSENSE,NM_000052.6:p.Glu1350Lys/c.4048G>A,Gag/Aag,MODERATE,,1,1,rs4826245,1(T),0.0(B),-1.87(N),-0.9026(T),,chrX,77298857,77298857,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1350Lys/c.4048G>A|1500|ATP7A|protein_coding|CODING|NM_000052.6|21|1),missense_variant(MODERATE|MISSENSE|Gag/Aag|p.Glu1272Lys/c.3814G>A|1422|ATP7A|protein_coding|CODING|NM_001282224.1|20|1),non_coding_exon_variant(MODIFIER|||n.1258G>A||ATP7A||CODING|NR_104109.1|8|1)",IMR90:H3K36me3,,RCV000078036.1,,1,1,1,,,,,0.000000(N),0.999(P),"-4.81,-4.81,-4.81(D,D,D)",0.0000(T),0.337,-0.393540,5.21,5.21,-0.314000,0.631000,7.078000,0.122000,0.998000,1.000000,10.2794
synonymous_variant,CYSLTR1,SILENT,NM_001282186.1:p.Phe309Phe/c.927C>T,ttC/ttT,LOW,,0.663046,0.6086,rs320995,,,,,,chrX,77528317,77528317,G,A,hom,"synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe309Phe/c.927C>T|337|CYSLTR1|protein_coding|CODING|NM_001282186.1|2|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe309Phe/c.927C>T|337|CYSLTR1|protein_coding|CODING|NM_001282187.1|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe309Phe/c.927C>T|337|CYSLTR1|protein_coding|CODING|NM_001282188.1|4|1),synonymous_variant(LOW|SILENT|ttC/ttT|p.Phe309Phe/c.927C>T|337|CYSLTR1|protein_coding|CODING|NM_006639.3|3|1)",,,,,0.6337,0.6412,0.799,0.74,0.66,0.79,,,,,,,,,,,,,,,,
missense_variant,FAM46D,MISSENSE,NM_001170574.1:p.Asp185Glu/c.555C>G,gaC/gaG,MODERATE,,0.37245,0.0812,rs1113265,1(T),0.003(B),0.975(L),-0.9282(T),,chrX,79698593,79698593,C,G,hom,"missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp185Glu/c.555C>G|389|FAM46D|protein_coding|CODING|NM_001170574.1|5|1),missense_variant(MODERATE|MISSENSE|gaC/gaG|p.Asp185Glu/c.555C>G|389|FAM46D|protein_coding|CODING|NM_152630.4|3|1)",,,,,0.2423,0.5573,0.6828,0.59,0.39,0.71,,0.006750(N),1.000(P),"2.03,2.03(T,T)",0.0000(T),0.027,-1.924635,4.8,-8.75,-0.996000,-2.291000,-0.369000,0.702000,0.050000,0.482000,3.1878
missense_variant,BRWD3,MISSENSE,NM_153252.4:p.Lys1288Arg/c.3863A>G,aAg/aGg,MODERATE,,0.989669,1,rs3122407,,0.001(B),-1.655(N),-0.9708(T),,chrX,79943569,79943569,T,C,hom,"missense_variant(MODERATE|MISSENSE|aAg/aGg|p.Lys1288Arg/c.3863A>G|1802|BRWD3|protein_coding|CODING|NM_153252.4|34|1),splice_region_variant(LOW|||c.3863A>G|1802|BRWD3|protein_coding|CODING|NM_153252.4|34|1)","HMEC:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3",,,,1,0.9981,1,0.99,0.97,1.00,,0.041458(N),1.000(P),2.18(T),0.0000(T),0.042,-0.358762,5.0,4.11,-0.180000,1.102000,0.170000,0.676000,0.997000,0.882000,9.3251
synonymous_variant,POU3F4,SILENT,NM_000307.4:p.Glu236Glu/c.708A>G,gaA/gaG,LOW,COSM4157035(1),0.99894,1,rs5921978,,,,,,chrX,82764040,82764040,A,G,hom,synonymous_variant(LOW|SILENT|gaA/gaG|p.Glu236Glu/c.708A>G|361|POU3F4|protein_coding|CODING|NM_000307.4|1|1),"H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,RCV000036259.1,,0.9986,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,POU3F4,MISSENSE,NM_000307.4:p.Gly237Ala/c.710G>C,gGc/gCc,MODERATE,COSM4157036(1),0.993907,1,rs5921979,1(T),0.0(B),-2.595(N),-0.9235(T),,chrX,82764042,82764042,G,C,hom,missense_variant(MODERATE|MISSENSE|gGc/gCc|p.Gly237Ala/c.710G>C|361|POU3F4|protein_coding|CODING|NM_000307.4|1|1),"H1ESC:H3K4me2,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3",,RCV000036257.1,,0.9833,1,1,,,,,0.000000(N),0.979(P),-1.51(D),0.0000(T),0.316,0.005390,5.07,5.07,-0.260000,1.057000,5.871000,0.850000,1.000000,1.000000,14.7773
missense_variant,CPXCR1,MISSENSE,NM_001184771.1:p.Tyr3Ser/c.8A>C,tAt/tCt,MODERATE,,0.913642,0.9228,rs5940915,,0.0(B),-0.895(N),-1.0010(T),,chrX,88008423,88008423,A,C,hom,"missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr3Ser/c.8A>C|301|CPXCR1|protein_coding|CODING|NM_001184771.1|3|1),missense_variant(MODERATE|MISSENSE|tAt/tCt|p.Tyr3Ser/c.8A>C|301|CPXCR1|protein_coding|CODING|NM_033048.5|3|1)",,,,,0.8774,0.9141,0.859,0.91,0.97,0.87,,0.046906(N),1.000(P),"2.0,2.0(T,T)",0.0000(T),0.234,-0.996647,3.28,3.28,-0.178000,0.789000,0.625000,0.868000,0.897000,0.782000,7.1546
missense_variant,CPXCR1,MISSENSE,NM_001184771.1:p.Arg131His/c.392G>A,cGt/cAt,MODERATE,COSM3759552(1),0.230464,0.0393,rs5984611,,0.496(P),0.55(N),-0.9882(T),,chrX,88008807,88008807,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg131His/c.392G>A|301|CPXCR1|protein_coding|CODING|NM_001184771.1|3|1),missense_variant(MODERATE|MISSENSE|cGt/cAt|p.Arg131His/c.392G>A|301|CPXCR1|protein_coding|CODING|NM_033048.5|3|1)",,,,,0.3426,0.2672,0.3525,0.33,0.18,0.41,,0.850257(N),1.000(P),"0.86,0.86(T,T)",0.0000(T),0.058,1.483747,3.06,0.0957,-0.223000,-0.091000,-0.426000,0.003000,0.000000,0.000000,4.5942
missense_variant,TGIF2LX,MISSENSE,NM_138960.3:p.Val197Ile/c.589G>A,Gtc/Atc,MODERATE,COSM3759553(1),0.727417,0.6597,rs2290380,,0.0(B),-0.895(N),-0.9787(T),,chrX,89177673,89177673,G,A,hom,missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val197Ile/c.589G>A|241|TGIF2LX|protein_coding|CODING|NM_138960.3|2|1),,,,,0.5571,0.7939,0.6514,0.76,0.90,0.68,,0.062395(N),1.000(P),-0.05(T),0.0000(T),0.008,0.570894,2.82,0.387,-0.631000,-0.320000,0.495000,0.001000,0.000000,0.000000,5.7356
missense_variant,RPA4,MISSENSE,NM_013347.4:p.Ala33Thr/c.97G>A,Gct/Act,MODERATE,,0.401854,0.3743,rs2642219,0.03(D),0.035(B),1.04(L),-1.0044(T),,chrX,96139406,96139406,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala33Thr/c.97G>A|261|RPA4|protein_coding|CODING|NM_013347.4|1|1),intron_variant(MODIFIER|||c.587+2689G>A|1101|DIAPH2|protein_coding|CODING|NM_006729.4|5|1),intron_variant(MODIFIER|||c.587+2689G>A|1096|DIAPH2|protein_coding|CODING|NM_007309.3|5|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2075,0.3836,0.2742,0.42,0.64,0.30,,,1.000(P),2.21(T),0.0000(T),0.028,0.204401,3.17,1.31,-0.191000,0.213000,0.878000,0.000000,0.000000,0.006000,3.8015
synonymous_variant,RPA4,SILENT,NM_013347.4:p.Asn50Asn/c.150T>C,aaT/aaC,LOW,COSM4157050(1),0.406093,0.3743,rs2642218,,,,,,chrX,96139459,96139459,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn50Asn/c.150T>C|261|RPA4|protein_coding|CODING|NM_013347.4|1|1),intron_variant(MODIFIER|||c.587+2742T>C|1101|DIAPH2|protein_coding|CODING|NM_006729.4|5|1),intron_variant(MODIFIER|||c.587+2742T>C|1096|DIAPH2|protein_coding|CODING|NM_007309.3|5|1)","IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.2075,0.3912,0.2742,0.42,0.64,0.30,,,,,,,,,,,,,,,,
missense_variant,SYTL4,MISSENSE,NM_001129896.2:p.Ile420Val/c.1258A>G,Att/Gtt,MODERATE,,0.932715,1,rs2022039,,0.003(B),-0.6(N),-0.8994(T),,chrX,99941705,99941705,T,C,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile420Val/c.1258A>G|671|SYTL4|protein_coding|CODING|NM_001129896.2|13|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile420Val/c.1258A>G|671|SYTL4|protein_coding|CODING|NM_001174068.1|12|1),missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile420Val/c.1258A>G|671|SYTL4|protein_coding|CODING|NM_080737.2|14|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,1,0.979,0.9974,0.91,0.77,1.00,,0.085702(N),0.316(P),"3.21,3.21,3.21,3.21,3.21(T,T,T,T,T)",0.0000(T),0.076,-0.643395,5.97,-5.45,-0.321000,-1.333000,-0.083000,0.318000,0.001000,0.001000,17.8674
missense_variant,TAF7L,MISSENSE,NM_024885.3:p.Leu34Pro/c.101T>C,cTt/cCt,MODERATE,,0.994967,1,rs5951328,0.36(T),0.0(B),-0.205(N),-0.9664(T),,chrX,100547933,100547933,A,G,hom,"missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu34Pro/c.101T>C|462|TAF7L|protein_coding|CODING|NM_024885.3|1|1),upstream_gene_variant(MODIFIER||1608||376|TAF7L|protein_coding|CODING|NM_001168474.1||1)",NHEK:H3K27me3,,,,0.9889,0.9962,0.9883,0.99,1.00,0.99,,0.068147(N),1.000(P),2.47(T),0.0000(T),0.017,-0.035513,3.67,-2.79,-1.795000,-1.418000,-1.292000,0.001000,0.000000,0.000000,11.4757
missense_variant,ARMCX4,MISSENSE,NM_001256155.2:p.Arg84Gly/c.250A>G,Agg/Ggg,MODERATE,,0.619338,0.4791,rs5951332,1(T),,,-0.9356(T),,chrX,100743826,100743826,A,G,hom,"missense_variant(MODERATE|MISSENSE|Agg/Ggg|p.Arg84Gly/c.250A>G|2290|ARMCX4|protein_coding|CODING|NM_001256155.2|2|1),intron_variant(MODIFIER|||n.573+740A>G||ARMCX4||CODING|NR_045862.1|5|1),intron_variant(MODIFIER|||n.567+740A>G||ARMCX4||CODING|NR_045863.1|5|1),non_coding_exon_variant(MODIFIER|||n.1072A>G||ARMCX4||CODING|NR_028407.2|9|1),non_coding_exon_variant(MODIFIER|||n.963A>G||ARMCX4||CODING|NR_045861.1|6|1),non_coding_exon_variant(MODIFIER|||n.1005A>G||ARMCX4||CODING|NR_045864.1|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.5042,0.6355,0.7115,,,,,0.677405(N),1.000(P),,0.0000(T),0.048,-0.356754,4.86,-0.997,-0.838000,-0.407000,0.393000,0.407000,0.001000,0.891000,4.1572
missense_variant,ARMCX4,MISSENSE,NM_001256155.2:p.Leu750Pro/c.2249T>C,cTc/cCc,MODERATE,,0.661987,0.4869,rs5951333,,,,-1.0003(T),,chrX,100745825,100745825,T,C,hom,"missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu750Pro/c.2249T>C|2290|ARMCX4|protein_coding|CODING|NM_001256155.2|2|1),intron_variant(MODIFIER|||n.573+2739T>C||ARMCX4||CODING|NR_045862.1|5|1),intron_variant(MODIFIER|||n.567+2739T>C||ARMCX4||CODING|NR_045863.1|5|1),intron_variant(MODIFIER|||n.1548+1523T>C||ARMCX4||CODING|NR_028407.2|9|1),intron_variant(MODIFIER|||n.1439+1523T>C||ARMCX4||CODING|NR_045861.1|6|1),intron_variant(MODIFIER|||n.1481+1523T>C||ARMCX4||CODING|NR_045864.1|6|1)",IMR90:H3K36me3,,,,0.5056,0.6489,0.7141,,,,,,1.000(P),,0.0000(T),0.051,0.126618,3.95,2.08,-0.170000,0.090000,.,0.019000,0.000000,.,5.4958
missense_variant,ARMCX4,MISSENSE,NM_001256155.2:p.Asp1501Gly/c.4502A>G,gAc/gGc,MODERATE,,1,1,rs5991911,,,,-1.0214(T),,chrX,100748078,100748078,A,G,hom,"missense_variant(MODERATE|MISSENSE|gAc/gGc|p.Asp1501Gly/c.4502A>G|2290|ARMCX4|protein_coding|CODING|NM_001256155.2|2|1),intron_variant(MODIFIER|||n.573+4992A>G||ARMCX4||CODING|NR_045862.1|5|1),intron_variant(MODIFIER|||n.567+4992A>G||ARMCX4||CODING|NR_045863.1|5|1),intron_variant(MODIFIER|||n.1548+3776A>G||ARMCX4||CODING|NR_028407.2|9|1),intron_variant(MODIFIER|||n.1439+3776A>G||ARMCX4||CODING|NR_045861.1|6|1),intron_variant(MODIFIER|||n.1481+3776A>G||ARMCX4||CODING|NR_045864.1|6|1)",,,,,1,1,1,,,,,,1.000(P),,0.0000(T),0.028,-0.151584,3.97,-0.227,-0.289000,-0.649000,-0.160000,0.490000,0.000000,0.001000,4.6532
missense_variant,ARMCX4,MISSENSE,NM_001256155.2:p.Ile1851Val/c.5551A>G,Att/Gtt,MODERATE,,0.691656,0.4908,rs5951336,,,,-1.0298(T),,chrX,100749127,100749127,A,G,hom,"missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile1851Val/c.5551A>G|2290|ARMCX4|protein_coding|CODING|NM_001256155.2|2|1),intron_variant(MODIFIER|||n.574-4005A>G||ARMCX4||CODING|NR_045862.1|5|1),intron_variant(MODIFIER|||n.568-4005A>G||ARMCX4||CODING|NR_045863.1|5|1),intron_variant(MODIFIER|||n.1549-4005A>G||ARMCX4||CODING|NR_028407.2|9|1),intron_variant(MODIFIER|||n.1440-4005A>G||ARMCX4||CODING|NR_045861.1|6|1),intron_variant(MODIFIER|||n.1482-4005A>G||ARMCX4||CODING|NR_045864.1|6|1)",,,,,0.5084,0.6584,0.7141,,,,,,1.000(P),,0.0000(T),0.037,-0.843557,1.37,-1.9,-2.214000,-1.494000,-0.243000,0.029000,0.087000,0.192000,2.8852
synonymous_variant,ARMCX4,SILENT,NM_001256155.2:p.His2003His/c.6009C>T,caC/caT,LOW,,0.44106,0.4516,rs3174476,,,,,,chrX,100749585,100749585,C,T,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His2003His/c.6009C>T|2290|ARMCX4|protein_coding|CODING|NM_001256155.2|2|1),intron_variant(MODIFIER|||n.574-3547C>T||ARMCX4||CODING|NR_045862.1|5|1),intron_variant(MODIFIER|||n.568-3547C>T||ARMCX4||CODING|NR_045863.1|5|1),intron_variant(MODIFIER|||n.1549-3547C>T||ARMCX4||CODING|NR_028407.2|9|1),intron_variant(MODIFIER|||n.1440-3547C>T||ARMCX4||CODING|NR_045861.1|6|1),intron_variant(MODIFIER|||n.1482-3547C>T||ARMCX4||CODING|NR_045864.1|6|1)",,,,,0.4095,0.5458,0.6802,,,,,,,,,,,,,,,,,,,
synonymous_variant,ARMCX2,SILENT,NM_001282231.1:p.Gln503Gln/c.1509G>A,caG/caA,LOW,,0.966887,1,rs3850315,,,,,,chrX,100911066,100911066,C,T,hom,"synonymous_variant(LOW|SILENT|caG/caA|p.Gln503Gln/c.1509G>A|632|ARMCX2|protein_coding|CODING|NM_001282231.1|6|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln503Gln/c.1509G>A|632|ARMCX2|protein_coding|CODING|NM_014782.6|5|1),synonymous_variant(LOW|SILENT|caG/caA|p.Gln503Gln/c.1509G>A|632|ARMCX2|protein_coding|CODING|NM_177949.3|6|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.9777,0.9542,0.9047,0.94,0.98,0.92,,,,,,,,,,,,,,,,
missense_variant,ZMAT1,MISSENSE,NM_001011657.3:p.Gln536Arg/c.1607A>G,cAg/cGg,MODERATE,,1,1,rs5944882,1(T),0.0(B),-0.805(N),-0.9638(T),,chrX,101138792,101138792,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln536Arg/c.1607A>G|638|ZMAT1|protein_coding|CODING|NM_001011657.3|7|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln365Arg/c.1094A>G|467|ZMAT1|protein_coding|CODING|NM_001282400.1|10|1),missense_variant(MODERATE|MISSENSE|cAg/cGg|p.Gln365Arg/c.1094A>G|467|ZMAT1|protein_coding|CODING|NM_001282401.1|9|1)",HUVEC:H3K36me3,,,,1,1,1,,,,,0.004338(N),1.000(P),"2.65,2.65,2.05(T,T,T)",0.0000(T),0.068,-0.954561,4.37,0.612,-0.170000,-0.260000,-0.195000,0.957000,0.152000,0.000000,8.6994
missense_variant,ZMAT1,MISSENSE,NM_001011657.3:p.Glu247Val/c.740A>T,gAg/gTg,MODERATE,,,,,0.11(T),0.221(B),2.05(M),-1.0111(T),,chrX,101139659,101139659,T,A,hom,"missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu247Val/c.740A>T|638|ZMAT1|protein_coding|CODING|NM_001011657.3|7|1),missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu76Val/c.227A>T|467|ZMAT1|protein_coding|CODING|NM_001282400.1|10|1),missense_variant(MODERATE|MISSENSE|gAg/gTg|p.Glu76Val/c.227A>T|467|ZMAT1|protein_coding|CODING|NM_001282401.1|9|1)","HUVEC:H3K36me3,CD4:H3K36me3",,,,,,,,,,,0.385829(N),1.000(N),"2.28,2.28,1.69(T,T,T)",0.0757(T),0.277,1.863643,4.37,1.81,0.437000,0.240000,1.148000,0.951000,0.071000,0.627000,5.1632
synonymous_variant,TCEAL6,SILENT,NM_001006938.2:p.Asp31Asp/c.93C>T,gaC/gaT,LOW,,0.0113907,0,rs56215301,,,,,,chrX,101396211,101396211,G,A,hom,synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp31Asp/c.93C>T|183|TCEAL6|protein_coding|CODING|NM_001006938.2|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.0056,0.021,0.0339,0.02,0.00,0.03,,,,,,,,,,,,,,,,
synonymous_variant,BEX2,SILENT,NM_001168399.1:p.Leu140Leu/c.418T>C,Ttg/Ctg,LOW,,0.832848,0.9843,rs7557,,,,,,chrX,102564583,102564583,A,G,hom,"synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu140Leu/c.418T>C|160|BEX2|protein_coding|CODING|NM_001168399.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu139Leu/c.415T>C|159|BEX2|protein_coding|CODING|NM_001168400.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu108Leu/c.322T>C|128|BEX2|protein_coding|CODING|NM_001168401.1|3|1),synonymous_variant(LOW|SILENT|Ttg/Ctg|p.Leu108Leu/c.322T>C|128|BEX2|protein_coding|CODING|NM_032621.3|3|1)","HUVEC:H3K27me3,IMR90:H3K27me3",,,,0.8273,0.8454,0.6292,0.70,0.84,0.62,,,,,,,,,,,,,,,,
missense_variant,GLRA4,MISSENSE,NM_001024452.2:p.Ile85Val/c.253A>G,Atc/Gtc,MODERATE,,0.986755,1,rs4907817,0.97(T),"0.015,0.109(B,B)",0.73(N),-0.9116(T),,chrX,102979486,102979486,T,C,hom,"missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile85Val/c.253A>G|417|GLRA4|protein_coding|CODING|NM_001024452.2|3|1),missense_variant(MODERATE|MISSENSE|Atc/Gtc|p.Ile85Val/c.253A>G|342|GLRA4|protein_coding|CODING|NM_001172285.1|3|1)","GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,1,0.9866,0.9452,0.97,0.99,0.95,,0.000011(N),0.994(P),-0.87(T),0.0000(T),0.026,0.222920,5.79,4.93,-0.252000,0.616000,0.395000,0.630000,0.999000,0.036000,8.4683
missense_variant,H2BFWT,MISSENSE,NM_001002916.4:p.Arg123His/c.368G>A,cGc/cAc,MODERATE,,0.580927,0.6073,rs553509,0.03(D),0.017(B),1.365(L),-0.9347(T),,chrX,103267865,103267865,C,T,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg123His/c.368G>A|175|H2BFWT|protein_coding|CODING|NM_001002916.4|1|1),intron_variant(MODIFIER|||n.17+77491G>A||MIR1256||NON_CODING|NR_031657.1.2|1|1)",IMR90:H3K27me3,,,,0.5891,0.4103,0.6684,0.64,0.59,0.67,,0.780175(U),1.000(P),1.64(T),0.0000(T),0.057,1.182830,2.84,-2.67,-0.849000,-0.944000,0.783000,0.000000,0.000000,0.994000,3.36
stop_gained,H2BFM,NONSENSE,NM_001164416.1:p.Gln73*/c.217C>T,Cag/Tag,HIGH,COSM3992277(2),0.30649,0.394,rs2301384,0.04(D),,,,H2BFM:1.00(1);H2BFM:1.00(1);,chrX,103294760,103294760,C,T,hom,"stop_gained(HIGH|NONSENSE|Cag/Tag|p.Gln73*/c.217C>T|154|H2BFM|protein_coding|CODING|NM_001164416.1|1|1),intron_variant(MODIFIER|||n.17+50596G>A||MIR1256||NON_CODING|NR_031657.1.2|1|1)",HepG2:H3K27me3,,,,0.5084,0.2519,0.4217,0.31,0.06,0.44,,,0.000(P),,,.,2.462579,2.54,-5.08,-0.389000,-2.587000,0.930000,0.002000,0.000000,0.834000,2.3382
synonymous_variant,NRK,SILENT,NM_198465.3:p.Lys456Lys/c.1368A>G,aaA/aaG,LOW,,1,1,rs209372,,,,,,chrX,105153001,105153001,A,G,hom,synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys456Lys/c.1368A>G|1582|NRK|protein_coding|CODING|NM_198465.3|13|1),NHEK:H3K27me3,,,,1,1,1,,,,,,,,,,,,,,,,,,,
synonymous_variant,COL4A6,SILENT,NM_001287758.1:p.Gly1043Gly/c.3129C>T,ggC/ggT,LOW,COSM3759326(2),0.406093,0.6348,rs5973851,,,,,,chrX,107417730,107417730,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1043Gly/c.3129C>T|1707|COL4A6|protein_coding|CODING|NM_001287758.1|32|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1026Gly/c.3078C>T|1666|COL4A6|protein_coding|CODING|NM_001287759.1|31|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1026Gly/c.3078C>T|1633|COL4A6|protein_coding|CODING|NM_001287760.1|31|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1027Gly/c.3081C>T|1691|COL4A6|protein_coding|CODING|NM_001847.3|31|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly1026Gly/c.3078C>T|1690|COL4A6|protein_coding|CODING|NM_033641.3|31|1)","K562:H3K27me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,0.4234,0.521,0.2298,0.23,0.28,0.21,,,,,,,,,,,,,,,,
synonymous_variant,COL4A6,SILENT,NM_001287758.1:p.Arg953Arg/c.2859T>C,cgT/cgC,LOW,,0.983841,1,rs4623610,,,,,,chrX,107418906,107418906,A,G,hom,"synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg953Arg/c.2859T>C|1707|COL4A6|protein_coding|CODING|NM_001287758.1|30|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg936Arg/c.2808T>C|1666|COL4A6|protein_coding|CODING|NM_001287759.1|29|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg936Arg/c.2808T>C|1633|COL4A6|protein_coding|CODING|NM_001287760.1|29|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg937Arg/c.2811T>C|1691|COL4A6|protein_coding|CODING|NM_001847.3|29|1),synonymous_variant(LOW|SILENT|cgT/cgC|p.Arg936Arg/c.2808T>C|1690|COL4A6|protein_coding|CODING|NM_033641.3|29|1)","HMEC:H3K36me3,NHEK:H3K27me3,NHEK:H3K36me3,IMR90:H3K27me3",,,,1,0.9905,1,0.98,0.95,1.00,,,,,,,,,,,,,,,,
missense_variant,GUCY2F,MISSENSE,NM_001522.2:p.Arg296Gln/c.887G>A,cGg/cAg,MODERATE,COSM4156516(1),0.948609,1,rs502209,0.65(T),0.0(B),-0.345(N),-0.9692(T),,chrX,108708516,108708516,C,T,hom,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg296Gln/c.887G>A|1108|GUCY2F|protein_coding|CODING|NM_001522.2|3|1),"HUVEC:H3K27me3,NHEK:H3K27me3",,,,0.9721,0.9351,0.8264,0.88,0.97,0.83,,0.035610(N),1.000(P),-0.84(T),0.0000(T),0.022,0.563628,3.94,3.94,-0.314000,0.669000,0.199000,0.987000,0.883000,0.001000,7.0492
synonymous_variant,RGAG1,SILENT,NM_020769.2:p.Gly280Gly/c.840T>A,ggT/ggA,LOW,,0.37404,0.017,rs2073787,,,,,,chrX,109694685,109694685,T,A,hom,synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly280Gly/c.840T>A|1388|RGAG1|protein_coding|CODING|NM_020769.2|3|1),"NHEK:H3K27me3,HeLa-S3:H3K27me3,IMR90:H3K27me3",,,,0.1922,0.2748,0.4373,0.54,0.76,0.41,,,,,,,,,,,,,,,,
synonymous_variant,CHRDL1,SILENT,NM_001143981.1:p.Lys318Lys/c.954A>G,aaA/aaG,LOW,COSM1464844(3),0.387815,0.0105,rs5943053,,,,,,chrX,109931856,109931856,T,C,hom,"synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys318Lys/c.954A>G|458|CHRDL1|protein_coding|CODING|NM_001143981.1|9|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys317Lys/c.951A>G|457|CHRDL1|protein_coding|CODING|NM_001143982.1|9|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys238Lys/c.714A>G|378|CHRDL1|protein_coding|CODING|NM_001143983.2|7|1),synonymous_variant(LOW|SILENT|aaA/aaG|p.Lys317Lys/c.951A>G|456|CHRDL1|protein_coding|CODING|NM_145234.3|9|1)",,,,,0.2173,0.2653,0.4217,0.54,0.78,0.40,,,,,,,,,,,,,,,,
missense_variant,ZCCHC16,MISSENSE,NM_001004308.2:p.Leu27Pro/c.80T>C,cTt/cCt,MODERATE,COSM3759328(2),0.514437,0.3469,rs6568050,0.31(T),0.0(B),-1.04(N),-1.0244(T),,chrX,111698036,111698036,T,C,hom,missense_variant(MODERATE|MISSENSE|cTt/cCt|p.Leu27Pro/c.80T>C|310|ZCCHC16|protein_coding|CODING|NM_001004308.2|3|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,0.3969,0.4198,0.4386,0.56,0.76,0.44,,0.277099(N),1.000(P),1.16(T),0.0000(T),0.08,-3.126419,4.19,2.37,-0.834000,0.164000,0.919000,0.000000,0.001000,0.086000,3.814
missense_variant,ZCCHC16,MISSENSE,NM_001004308.2:p.Asp162Tyr/c.484G>T,Gac/Tac,MODERATE,,0.0831788,0.0013,rs7474140,1(T),0.012(B),1.04(L),-0.9577(T),,chrX,111698440,111698440,G,T,hom,missense_variant(MODERATE|MISSENSE|Gac/Tac|p.Asp162Tyr/c.484G>T|310|ZCCHC16|protein_coding|CODING|NM_001004308.2|3|1),NHEK:H3K27me3,,,,0.0975,0.0973,0.2037,0.16,0.07,0.22,,0.292551(N),1.000(P),2.38(T),0.0000(T),0.106,-1.643386,3.73,-0.266,0.529000,-0.205000,-0.719000,0.009000,0.001000,0.000000,2.7787
synonymous_variant,ZCCHC16,SILENT,NM_001004308.2:p.Leu169Leu/c.507C>T,ctC/ctT,LOW,,0.0283444,0,rs112035132,,,,,,chrX,111698463,111698463,C,T,hom,synonymous_variant(LOW|SILENT|ctC/ctT|p.Leu169Leu/c.507C>T|310|ZCCHC16|protein_coding|CODING|NM_001004308.2|3|1),NHEK:H3K27me3,,,,0.0265,0.0382,0.0875,0.07,0.02,0.10,,,,,,,,,,,,,,,,
missense_variant,HTR2C,MISSENSE,NM_000868.2:p.Cys23Ser/c.68G>C,tGt/tCt,MODERATE,COSM1465011(2),0.165828,0.0157,rs6318,0.41(T),"0.069,0.008(B,B)",0(N),-0.9554(T),,chrX,113965735,113965735,G,C,hom,"missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys23Ser/c.68G>C|458|HTR2C|protein_coding|CODING|NM_000868.2|4|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys23Ser/c.68G>C|458|HTR2C|protein_coding|CODING|NM_001256760.1|5|1),missense_variant(MODERATE|MISSENSE|tGt/tCt|p.Cys23Ser/c.68G>C|248|HTR2C|protein_coding|CODING|NM_001256761.1|4|1)",,,RCV000010563.1,,0.0752,0.0878,0.154,0.24,0.34,0.18,,0.049465(N),1.000(P),"0.45,0.45,0.65(T,T,T)",0.0000(T),0.384,1.142518,4.57,2.7,0.594000,0.586000,0.924000,0.777000,0.586000,0.750000,4.5956
synonymous_variant,RBMXL3,SILENT,NM_001145346.1:p.Ser48Ser/c.144G>A,tcG/tcA,LOW,COSM3759331(1),0.058543,0.0026,rs62601525,,,,,,chrX,114424148,114424148,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser48Ser/c.144G>A|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-1215C>T|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-1215C>T|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)","IMR90:H3K36me3,NHEK:H3K27me3",,,,0.0877,0.0706,0.1488,0.12,0.03,0.16,,,,,,,,,,,,,,,,
missense_variant,RBMXL3,MISSENSE,NM_001145346.1:p.Pro145Arg/c.434C>G,cCg/cGg,MODERATE,COSM3749783(2),0.0582781,0.0026,rs62601527,0(D),0.059(B),1.355(L),-0.9716(T),,chrX,114424438,114424438,C,G,hom,"missense_variant(MODERATE|MISSENSE|cCg/cGg|p.Pro145Arg/c.434C>G|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-1505G>C|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-1505G>C|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)","IMR90:H3K36me3,NHEK:H3K27me3",,,,0.0877,0.0706,0.1475,,,,,,1.000(P),3.69(T),0.0007(T),0.26,1.268305,1.07,0.162,-0.354000,-0.018000,-0.085000,0.001000,0.002000,0.000000,5.333
synonymous_variant,RBMXL3,SILENT,NM_001145346.1:p.Pro167Pro/c.501G>A,ccG/ccA,LOW,COSM3749784(6),0.058543,0.0026,rs62601528,,,,,,chrX,114424505,114424505,G,A,hom,"synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro167Pro/c.501G>A|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-1572C>T|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-1572C>T|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)","IMR90:H3K36me3,NHEK:H3K27me3",,,,0.0877,0.0725,0.1475,,,,,,,,,,,,,,,,,,,
missense_variant,RBMXL3,MISSENSE,NM_001145346.1:p.Ala313Thr/c.937G>A,Gct/Act,MODERATE,COSM456542(3),0.0596026,0.0026,rs62601530,0(D),0.017(B),0(N),-0.9043(T),,chrX,114424941,114424941,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gct/Act|p.Ala313Thr/c.937G>A|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-2008C>T|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-2008C>T|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)",IMR90:H3K36me3,,,,0.0905,0.0706,0.1488,0.12,0.03,0.16,,,1.000(P),3.43(T),0.0000(T),0.045,1.531256,0.682,-0.276,-0.494000,-0.218000,1.366000,0.000000,0.000000,0.026000,.
missense_variant,RBMXL3,MISSENSE,NM_001145346.1:p.Gly412Ser/c.1234G>A,Ggc/Agc,MODERATE,COSM4156536(1),0.0900662,0.0563,rs55718100,0(D),0.01(B),0(N),-0.9302(T),,chrX,114425238,114425238,G,A,hom,"missense_variant(MODERATE|MISSENSE|Ggc/Agc|p.Gly412Ser/c.1234G>A|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-2305C>T|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-2305C>T|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)","HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.0947,0.1031,0.1945,0.12,0.03,0.16,,,1.000(P),3.21(T),0.0000(T),0.021,0.164466,0.341,-0.683,-1.442000,-1.340000,-0.224000,0.002000,0.001000,0.876000,.
missense_variant,RBMXL3,MISSENSE,NM_001145346.1:p.Ala640Asp/c.1919C>A,gCc/gAc,MODERATE,COSM3759334(2),0.0582781,0.0026,rs142223554,0(D),0.3(B),0(N),-0.8865(T),,chrX,114425923,114425923,C,A,hom,"missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala640Asp/c.1919C>A|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-2990G>T|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-2990G>T|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.0877,0.0706,0.1475,0.12,0.03,0.16,,,0.999(P),3.4(T),0.0000(T),0.039,1.083366,.,.,0.110000,0.108000,0.148000,0.004000,0.004000,0.002000,.
missense_variant,RBMXL3,MISSENSE,NM_001145346.1:p.Arg723Cys/c.2167C>T,Cgc/Tgc,MODERATE,,0.927947,0.9856,rs5946294,0(D),0.0(B),0(N),-1.0566(T),,chrX,114426171,114426171,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cgc/Tgc|p.Arg723Cys/c.2167C>T|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-3238G>A|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-3238G>A|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.9875,0.979,1,0.93,0.79,1.00,,,0.999(P),3.34(T),0.0000(T),0.064,-1.421437,0.118,-0.237,-1.164000,-1.165000,-0.973000,0.002000,0.002000,0.001000,4.528
missense_variant,RBMXL3,MISSENSE,NM_001145346.1:p.Arg794His/c.2381G>A,cGc/cAc,MODERATE,COSM3992300(1),0.0582781,0.0026,rs80194951,0(D),0.522(P),0(N),-0.8896(T),,chrX,114426385,114426385,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg794His/c.2381G>A|1067|RBMXL3|protein_coding|CODING|NM_001145346.1|1|1),intron_variant(MODIFIER|||c.350-3452C>T|748|LRCH2|protein_coding|CODING|NM_001243963.1|1|1),intron_variant(MODIFIER|||c.350-3452C>T|765|LRCH2|protein_coding|CODING|NM_020871.3|1|1)","H1ESC:H3K36me3,HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.0877,0.0706,0.1475,0.12,0.03,0.16,,,0.000(P),3.36(T),0.0001(T),0.131,2.683230,0.92,0.92,0.181000,0.179000,0.066000,0.014000,0.013000,0.003000,7.6329
synonymous_variant,SLC6A14,SILENT,NM_007231.4:p.Gly28Gly/c.84T>A,ggT/ggA,LOW,,0.0540397,0.0183,rs12720074,,,,,,chrX,115568993,115568993,T,A,hom,synonymous_variant(LOW|SILENT|ggT/ggA|p.Gly28Gly/c.84T>A|642|SLC6A14|protein_coding|CODING|NM_007231.4|2|1),"HMEC:H3K27me3,NHEK:H3K27me3",,,,0.1031,0.0439,0.0966,0.07,0.04,0.09,,,,,,,,,,,,,,,,
synonymous_variant,LONRF3,SILENT,NM_001031855.2:p.Ala14Ala/c.42T>C,gcT/gcC,LOW,,0.502781,0.7814,rs3813933,,,,,,chrX,118108785,118108785,T,C,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala14Ala/c.42T>C|759|LONRF3|protein_coding|CODING|NM_001031855.2|1|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala14Ala/c.42T>C|718|LONRF3|protein_coding|CODING|NM_024778.5|1|1),upstream_gene_variant(MODIFIER||1510||503|LONRF3|protein_coding|CODING|NM_001289109.1||1),non_coding_exon_variant(MODIFIER|||n.209T>C||LONRF3||CODING|NR_110311.1|1|1)","HeLa-S3:Cmyc,K562:H3K4me3,HepG2:H3K4me2,CD4:H3K18ac,K562:PolII,GM06990:H3K27me3,HUVEC:H3K27me3,CD4:H2BK5ac,HUVEC:H3K4me3,GM12878:H3K27me3,CD4:H4K91ac,HeLa-S3:H3K9ac,HUVEC:PolII,CD4:H2BK20ac,H1ESC:H3K27me3,CD4:H3K4me3,CD4:H3K27ac,HepG2:PolII,NH-A:H3K27me3,HMEC:H3K27me3,K562:E2F6,HeLa-S3:PolII,NHEK:H3K27me3,HeLa-S3:H3K27ac,HepG2:H3K4me3,IMR90:H3K27me3,HSMM:H3K27me3,HeLa-S3:H3K4me3,CD4:H2BK120ac,HepG2:H3K27me3",,,,0.4916,0.6145,0.4295,0.39,0.32,0.43,,,,,,,,,,,,,,,,
missense_variant,KIAA1210,MISSENSE,NM_020721.1:p.Gly103Val/c.308G>T,gGc/gTc,MODERATE,,0.93404,1,rs5910522,1(T),0.0(B),0(N),-0.9667(T),,chrX,118281538,118281538,C,A,hom,missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly103Val/c.308G>T|1709|KIAA1210|protein_coding|CODING|NM_020721.1|2|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.9986,0.9809,0.9987,0.92,0.78,1.00,,,1.000(P),2.47(T),0.0000(T),0.081,-0.417314,2.54,1.3,-0.314000,-0.093000,0.269000,0.256000,0.001000,0.002000,2.7265
synonymous_variant,SLC25A5,SILENT,NM_001152.4:p.Val67Val/c.201T>C,gtT/gtC,LOW,COSM1625443(2),,,rs201182381,,,,,,chrX,118603713,118603713,T,C,het,"synonymous_variant(LOW|SILENT|gtT/gtC|p.Val67Val/c.201T>C|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||630|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,CD4:H3K27ac,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,CD4:H3K36ac,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SLC25A5,MISSENSE,NM_001152.4:p.Gly73Ser/c.217G>A,Ggt/Agt,MODERATE,COSM250165(3),,,rs143413528,0(D),0.984(D),4.735(H),1.0179(D),,chrX,118603729,118603729,G,A,het,"missense_variant(MODERATE|MISSENSE|Ggt/Agt|p.Gly73Ser/c.217G>A|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||646|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,,,,,,,,0.000000(D),0.000(P),-4.76(D),0.9812(D),0.866,4.569470,4.18,4.18,0.529000,2.019000,9.307000,0.994000,1.000000,1.000000,15.4079
missense_variant,SLC25A5,MISSENSE,NM_001152.4:p.Asn77Thr/c.230A>C,aAt/aCt,MODERATE,COSM4156552(1),,,rs148294496,0(D),0.987(D),2.45(M),0.4692(D),,chrX,118603742,118603742,A,C,het,"missense_variant(MODERATE|MISSENSE|aAt/aCt|p.Asn77Thr/c.230A>C|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||659|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,,,,,,,,0.000000(D),0.000(P),-1.24(T),0.6008(D),0.544,3.874563,4.18,4.18,0.430000,1.622000,8.811000,0.991000,1.000000,1.000000,12.1849
missense_variant,SLC25A5,MISSENSE,NM_001152.4:p.Ile79Phe/c.235A>T,Atc/Ttc,MODERATE,COSM4004985(3),,,rs141428607,0(D),0.834(P),3.43(M),0.7425(D),,chrX,118603747,118603747,A,T,het,"missense_variant(MODERATE|MISSENSE|Atc/Ttc|p.Ile79Phe/c.235A>T|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||664|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","NHEK:H3K9ac,H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,HMEC:H3K9ac,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,H1ESC:H3K4me2,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,HeLa-S3:PolII,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,,,,,,,,0.000000(D),0.000(P),-1.3(T),0.6850(D),0.853,4.400958,4.18,4.18,0.430000,1.622000,8.811000,0.988000,1.000000,1.000000,12.1849
synonymous_variant,SLC25A5,SILENT,NM_001152.4:p.Leu87Leu/c.261T>C,ctT/ctC,LOW,COSM4156553(2),,,rs148920941,,,,,,chrX,118603773,118603773,T,C,het,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu87Leu/c.261T>C|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||690|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","H1ESC:H3K36me3,HepG2:H3K4me2,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,GM12878:H3K79me2,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K4me1,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HeLa-S3:H3K4me3,HSMM:H3K4me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A5,SILENT,NM_001152.4:p.Gly102Gly/c.306T>G,ggT/ggG,LOW,COSM150817(3),,,rs77766798,,,,,,chrX,118603818,118603818,T,G,het,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly102Gly/c.306T>G|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||735|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,HUVEC:H3K4me2,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,K562:H3K4me2,HMEC:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
synonymous_variant,SLC25A5,SILENT,NM_001152.4:p.Arg106Arg/c.318A>G,agA/agG,LOW,COSM150818(7),,,rs73637847,,,,,,chrX,118603830,118603830,A,G,het,"synonymous_variant(LOW|SILENT|agA/agG|p.Arg106Arg/c.318A>G|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||747|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,H1ESC:H3K4me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,SLC25A5,MISSENSE,NM_001152.4:p.Leu111Arg/c.332T>G,cTc/cGc,MODERATE,COSM1465204(2),0.811656,0.6846,rs371749,1(T),0.0(B),-1.505(N),-0.9428(T),,chrX,118603844,118603844,T,G,het,"missense_variant(MODERATE|MISSENSE|cTc/cGc|p.Leu111Arg/c.332T>G|298|SLC25A5|protein_coding|CODING|NM_001152.4|2|1),upstream_gene_variant(MODIFIER||761|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","H1ESC:H3K36me3,NHEK:H3K4me3,GM12878:H3K4me3,HUVEC:H3K4me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,GM06990:H3K4me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,NHEK:H3K4me2,HeLa-S3:H3K36me3,HepG2:H3K27me3,GM06990:H3K36me3,GM12878:H3K4me2,HMEC:H3K4me3",,,,0.8092,0.7595,0.7467,,,,,0.000000(N),0.964(P),-1.36(T),0.0000(T),0.404,0.043209,4.35,4.35,-0.253000,0.940000,7.542000,0.986000,1.000000,1.000000,12.2673
synonymous_variant,SLC25A5,SILENT,NM_001152.4:p.Thr233Thr/c.699T>C,acT/acC,LOW,COSM1465208(2),0.811391,0.6846,rs12390,,,,,,chrX,118604436,118604436,T,C,hom,"synonymous_variant(LOW|SILENT|acT/acC|p.Thr233Thr/c.699T>C|298|SLC25A5|protein_coding|CODING|NM_001152.4|3|1),upstream_gene_variant(MODIFIER||1353|||SLC25A5-AS1||NON_CODING|NR_028443.1||1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.8092,0.7595,0.7467,0.83,0.96,0.76,,,,,,,,,,,,,,,,
synonymous_variant,CXorf56,SILENT,NM_022101.3:p.Gly125Gly/c.375C>T,ggC/ggT,LOW,COSM4156555(1),0.605828,0.767,rs5910611,,,,,,chrX,118678364,118678364,G,A,hom,"synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly76Gly/c.228C>T|173|CXorf56|protein_coding|CODING|NM_001170569.1|4|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly111Gly/c.333C>T|208|CXorf56|protein_coding|CODING|NM_001170570.1|3|1),synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly125Gly/c.375C>T|222|CXorf56|protein_coding|CODING|NM_022101.3|4|1)","IMR90:H3K36me3,HepG2:H3K36me3",,,,0.663,0.6279,0.6345,0.57,0.48,0.63,,,,,,,,,,,,,,,,
synonymous_variant,SOWAHD,SILENT,NM_001105576.2:p.Ala86Ala/c.258G>C,gcG/gcC,LOW,COSM3759341(2),0.607947,0.4908,rs2782222,,,,,,chrX,118892888,118892888,G,C,hom,synonymous_variant(LOW|SILENT|gcG/gcC|p.Ala86Ala/c.258G>C|315|SOWAHD|protein_coding|CODING|NM_001105576.2|1|1),"K562:H3K4me3,NHEK:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:DNase1,HMEC:H3K4me2,H1ESC:H3K4me3,GM06990:H3K4me3,HUVEC:DNase1,NHEK:H3K27me3,HepG2:H3K4me3,HepG2:DNase1,HMEC:H3K4me3,IMR90:H3K4me3,K562:DNase1",,,,0.6407,0.6412,0.6501,0.68,0.71,0.67,,,,,,,,,,,,,,,,
synonymous_variant,SOWAHD,SILENT,NM_001105576.2:p.Arg142Arg/c.424C>A,Cgg/Agg,LOW,COSM3759342(7),0.611391,0.4935,rs2782223,,,,,,chrX,118893054,118893054,C,A,hom,synonymous_variant(LOW|SILENT|Cgg/Agg|p.Arg142Arg/c.424C>A|315|SOWAHD|protein_coding|CODING|NM_001105576.2|1|1),"K562:H3K4me3,HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K27me3,HepG2:H3K4me3,HMEC:H3K4me3",,,,0.6518,0.645,0.6501,0.66,0.69,0.65,,,,,,,,,,,,,,,,
synonymous_variant,SOWAHD,SILENT,NM_001105576.2:p.Asp169Asp/c.507T>C,gaT/gaC,LOW,COSM3759343(4),0.611391,0.4935,rs2782224,,,,,,chrX,118893137,118893137,T,C,hom,synonymous_variant(LOW|SILENT|gaT/gaC|p.Asp169Asp/c.507T>C|315|SOWAHD|protein_coding|CODING|NM_001105576.2|1|1),"HUVEC:H3K27me3,GM12878:H3K4me3,CD4:DNase1,H1ESC:H3K4me2,H1ESC:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K27me3,HepG2:H3K4me3,HMEC:H3K4me3",,,,0.6504,0.645,0.6501,0.65,0.67,0.64,,,,,,,,,,,,,,,,
synonymous_variant,SOWAHD,SILENT,NM_001105576.2:p.Ser261Ser/c.783T>C,agT/agC,LOW,COSM1465231(2),0.644503,0.4935,rs2782225,,,,,,chrX,118893413,118893413,T,C,hom,synonymous_variant(LOW|SILENT|agT/agC|p.Ser261Ser/c.783T>C|315|SOWAHD|protein_coding|CODING|NM_001105576.2|1|1),"HUVEC:H3K27me3,GM12878:H3K4me3,H1ESC:H3K4me2,H1ESC:H3K27me3,NH-A:H3K27me3,H1ESC:H3K4me3,GM06990:H3K4me3,NHEK:H3K27me3",,,,0.6504,0.6718,0.6501,0.69,0.77,0.64,,,,,,,,,,,,,,,,
missense_variant,C1GALT1C1,MISSENSE,NM_001011551.2:p.Ala143Val/c.428C>T,gCa/gTa,MODERATE,,0.00900662,0,rs45557031,,0.099(B),2.31(M),-0.7769(T),,chrX,119760594,119760594,G,A,hom,"missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala143Val/c.428C>T|318|C1GALT1C1|protein_coding|CODING|NM_001011551.2|2|1),missense_variant(MODERATE|MISSENSE|gCa/gTa|p.Ala143Val/c.428C>T|318|C1GALT1C1|protein_coding|CODING|NM_152692.4|3|1)",,,,,0.0042,0.0153,0.03,0.02,0.00,0.02,,0.000005(D),0.000(P),"0.45,0.45(T,T)",0.1075(T),0.396,3.093579,5.14,5.14,0.544000,2.259000,7.575000,0.928000,1.000000,1.000000,16.3759
synonymous_variant,GRIA3,SILENT,NM_000828.4:p.Asn400Asn/c.1200T>C,aaT/aaC,LOW,COSM1465322(1),0.529007,0.6872,rs502434,,,,,,chrX,122537277,122537277,T,C,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn400Asn/c.1200T>C|894|GRIA3|protein_coding|CODING|NM_000828.4|9|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn400Asn/c.1200T>C|894|GRIA3|protein_coding|CODING|NM_007325.4|9|1)",,,RCV000117156.2,,0.4248,0.5706,0.6149,0.55,0.43,0.61,,,,,,,,,,,,,,,,
synonymous_variant,TENM1,SILENT,NM_001163278.1:p.Ser1853Ser/c.5559A>G,tcA/tcG,LOW,,0.17457,0.339,rs2076165,,,,,,chrX,123526031,123526031,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1853Ser/c.5559A>G|2732|TENM1|protein_coding|CODING|NM_001163278.1|28|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1852Ser/c.5556A>G|2731|TENM1|protein_coding|CODING|NM_001163279.1|28|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser1846Ser/c.5538A>G|2725|TENM1|protein_coding|CODING|NM_014253.3|27|1)",,,,,0.0919,0.208,0.1175,0.12,0.14,0.11,,,,,,,,,,,,,,,,
synonymous_variant,TENM1,SILENT,NM_001163278.1:p.Thr1669Thr/c.5007C>A,acC/acA,LOW,,0.380397,0.3573,rs960869,,,,,,chrX,123540315,123540315,G,T,hom,"synonymous_variant(LOW|SILENT|acC/acA|p.Thr1669Thr/c.5007C>A|2732|TENM1|protein_coding|CODING|NM_001163278.1|26|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr1668Thr/c.5004C>A|2731|TENM1|protein_coding|CODING|NM_001163279.1|26|1),synonymous_variant(LOW|SILENT|acC/acA|p.Thr1662Thr/c.4986C>A|2725|TENM1|protein_coding|CODING|NM_014253.3|25|1)",,,,,0.3217,0.4065,0.4256,0.41,0.40,0.42,,,,,,,,,,,,,,,,
synonymous_variant,PRR32,SILENT,NM_001122716.1:p.Pro269Pro/c.807G>A,ccG/ccA,LOW,COSM4002256(2),0.312053,0.4751,rs2269777,,,,,,chrX,125955428,125955428,G,A,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro269Pro/c.807G>A|298|PRR32|protein_coding|CODING|NM_001122716.1|2|1),,,,,0.2994,0.313,0.5026,0.37,0.10,0.51,,,,,,,,,,,,,,,,
synonymous_variant,XPNPEP2,SILENT,NM_003399.5:p.Pro149Pro/c.447T>C,ccT/ccC,LOW,,0.590728,0.7814,rs3747343,,,,,,chrX,128880614,128880614,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro149Pro/c.447T>C|674|XPNPEP2|protein_coding|CODING|NM_003399.5|6|1),"GM06990:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3",,,,0.4791,0.3473,0.3029,0.46,0.79,0.27,,,,,,,,,,,,,,,,
missense_variant,BCORL1,MISSENSE,NM_021946.4:p.Phe111Leu/c.331T>C,Ttc/Ctc,MODERATE,,1,1,rs4830173,0.37(T),"0.0,0.0(B,B)",-0.55(N),-0.9891(T),,chrX,129147079,129147079,T,C,hom,missense_variant(MODERATE|MISSENSE|Ttc/Ctc|p.Phe111Leu/c.331T>C|1711|BCORL1|protein_coding|CODING|NM_021946.4|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.103040(N),1.000(P),"1.37,1.72,1.37,1.37(T,T,T,T)",0.0000(T),0.067,0.048319,5.28,3.35,-0.252000,1.025000,0.657000,0.833000,0.989000,0.757000,2.2485
synonymous_variant,IGSF1,SILENT,NM_001170961.1:p.Val316Val/c.948G>A,gtG/gtA,LOW,,0.906225,1,rs5932877,,,,,,chrX,130416958,130416958,C,T,hom,"synonymous_variant(LOW|SILENT|gtG/gtA|p.Val316Val/c.948G>A|1341|IGSF1|protein_coding|CODING|NM_001170961.1|6|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val307Val/c.921G>A|1327|IGSF1|protein_coding|CODING|NM_001170962.1|5|1),synonymous_variant(LOW|SILENT|gtG/gtA|p.Val316Val/c.948G>A|1336|IGSF1|protein_coding|CODING|NM_001555.4|6|1),downstream_gene_variant(MODIFIER||1182||242|IGSF1|protein_coding|CODING|NM_001170963.1||1),downstream_gene_variant(MODIFIER||1182||242|IGSF1|protein_coding|CODING|NM_205833.3||1)",HepG2:H3K36me3,,,,1,0.9656,0.9987,0.89,0.69,1.00,,,,,,,,,,,,,,,,
synonymous_variant,IGSF1,SILENT,NM_001170961.1:p.Pro38Pro/c.114A>G,ccA/ccG,LOW,,0.944636,1,rs5930458,,,,,,chrX,130420006,130420006,T,C,hom,"synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro38Pro/c.114A>G|1341|IGSF1|protein_coding|CODING|NM_001170961.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro29Pro/c.87A>G|1327|IGSF1|protein_coding|CODING|NM_001170962.1|3|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro38Pro/c.114A>G|242|IGSF1|protein_coding|CODING|NM_001170963.1|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro38Pro/c.114A>G|1336|IGSF1|protein_coding|CODING|NM_001555.4|4|1),synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro38Pro/c.114A>G|242|IGSF1|protein_coding|CODING|NM_205833.3|4|1)","H1ESC:H3K36me3,IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9752,0.9987,0.94,0.83,1.00,,,,,,,,,,,,,,,,
synonymous_variant,IGSF1,SILENT,NM_001170961.1:p.Ser31Ser/c.93A>G,tcA/tcG,LOW,COSM4156586(1),0.97351,1,rs4495600,,,,,,chrX,130420415,130420415,T,C,hom,"synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser31Ser/c.93A>G|1341|IGSF1|protein_coding|CODING|NM_001170961.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser31Ser/c.93A>G|242|IGSF1|protein_coding|CODING|NM_001170963.1|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser31Ser/c.93A>G|1336|IGSF1|protein_coding|CODING|NM_001555.4|3|1),synonymous_variant(LOW|SILENT|tcA/tcG|p.Ser31Ser/c.93A>G|242|IGSF1|protein_coding|CODING|NM_205833.3|3|1),intron_variant(MODIFIER|||c.70+164A>G|1327|IGSF1|protein_coding|CODING|NM_001170962.1|2|1)","IMR90:H3K27me3,HepG2:H3K36me3",,,,1,0.9943,0.9987,0.97,0.92,1.00,,,,,,,,,,,,,,,,
synonymous_variant,OR13H1,SILENT,NM_001004486.1:p.Val140Val/c.420A>G,gtA/gtG,LOW,COSM3759360(2),0.695629,0.6387,rs499030,,,,,,chrX,130678467,130678467,A,G,hom,synonymous_variant(LOW|SILENT|gtA/gtG|p.Val140Val/c.420A>G|308|OR13H1|protein_coding|CODING|NM_001004486.1|1|1),H1ESC:CTCF,,,,0.7772,0.5344,0.6018,0.70,0.82,0.63,,,,,,,,,,,,,,,,
synonymous_variant,OR13H1,SILENT,NM_001004486.1:p.Leu183Leu/c.549C>G,ctC/ctG,LOW,,0.181192,0.0589,rs17316625,,,,,,chrX,130678596,130678596,C,G,hom,synonymous_variant(LOW|SILENT|ctC/ctG|p.Leu183Leu/c.549C>G|308|OR13H1|protein_coding|CODING|NM_001004486.1|1|1),,,,,0.3579,0.1813,0.3486,0.25,0.05,0.36,,,,,,,,,,,,,,,,
missense_variant,OR13H1,MISSENSE,NM_001004486.1:p.Tyr266Ser/c.797A>C,tAc/tCc,MODERATE,,0.695894,0.6387,rs655415,1(T),0.0(B),-3.14(N),-0.9808(T),,chrX,130678844,130678844,A,C,hom,missense_variant(MODERATE|MISSENSE|tAc/tCc|p.Tyr266Ser/c.797A>C|308|OR13H1|protein_coding|CODING|NM_001004486.1|1|1),,,,,0.7772,0.5363,0.6018,0.70,0.82,0.63,,0.001374(N),1.000(P),9.15(T),0.0000(T),0.086,-2.735259,4.87,4.87,-0.178000,1.058000,0.570000,0.063000,0.010000,0.000000,9.5077
synonymous_variant,FRMD7,SILENT,NM_194277.2:p.Ile511Ile/c.1533T>C,atT/atC,LOW,COSM1132405(3),0.260662,0.1113,rs5977623,,,,,,chrX,131212512,131212512,A,G,hom,synonymous_variant(LOW|SILENT|atT/atC|p.Ile511Ile/c.1533T>C|714|FRMD7|protein_coding|CODING|NM_194277.2|12|1),"NHEK:H3K27me3,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.195,0.1088,0.299,0.36,0.44,0.31,,,,,,,,,,,,,,,,
synonymous_variant,FRMD7,SILENT,NM_194277.2:p.Asn367Asn/c.1101T>C,aaT/aaC,LOW,,0.0474172,0,rs7051368,,,,,,chrX,131212944,131212944,A,G,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn367Asn/c.1101T>C|714|FRMD7|protein_coding|CODING|NM_194277.2|12|1),"NHEK:H3K27me3,IMR90:H3K27me3",,,,0.0097,0.0305,0.0953,0.10,0.10,0.10,,,,,,,,,,,,,,,,
synonymous_variant,USP26,SILENT,NM_031907.1:p.Glu192Glu/c.576G>A,gaG/gaA,LOW,COSM3759362(1),0.304106,0.3783,rs41304540,,,,,,chrX,132161673,132161673,C,T,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu192Glu/c.576G>A|913|USP26|protein_coding|CODING|NM_031907.1|1|1),,,,,0.3858,0.2405,0.5287,0.35,0.10,0.50,,,,,,,,,,,,,,,,
synonymous_variant,CCDC160,SILENT,NM_001101357.1:p.Leu241Leu/c.721C>T,Cta/Tta,LOW,,1,1,rs2428577,,,,,,chrX,133379551,133379551,C,T,hom,synonymous_variant(LOW|SILENT|Cta/Tta|p.Leu241Leu/c.721C>T|325|CCDC160|protein_coding|CODING|NM_001101357.1|2|1),GM12878:H3K27me3,,,,1,1,1,,,,,,,,,,,,,,,,,,,
missense_variant,FAM122C,MISSENSE,NM_001170779.1:p.Pro68Ser/c.202C>T,Cct/Tct,MODERATE,,0.0193377,0,rs45447592,1(T),"0.0,0.0(B,B)",-1.21(N),-0.9858(T),,chrX,133963268,133963268,C,T,hom,"missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro68Ser/c.202C>T|195|FAM122C|protein_coding|CODING|NM_001170779.1|3|1),missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro68Ser/c.202C>T|152|FAM122C|protein_coding|CODING|NM_138819.3|3|1)",,,,,0.0084,0.0401,0.0561,0.04,0.01,0.06,,0.005804(N),1.000(P),"0.75,0.75(T,T)",0.0039(T),0.048,-1.479178,5.17,-1.62,-0.366000,-0.650000,0.969000,0.004000,0.000000,0.021000,9.1072
synonymous_variant,LOC102723631,SILENT,NM_001291527.1:p.Asn97Asn/c.291T>C,aaT/aaC,LOW,COSM1178534(2),0.834702,0.8678,rs2034920,,,,,,chrX,134948034,134948034,A,G,hom,"synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn97Asn/c.291T>C|189|LOC102723631|protein_coding|CODING|NM_001291527.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn97Asn/c.291T>C|189|LOC102723631|protein_coding|CODING|NM_001291528.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn97Asn/c.291T>C|189|LOC102723631|protein_coding|CODING|NM_001291529.1|3|1),synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn97Asn/c.291T>C|189|LOC102723631|protein_coding|CODING|NM_001291530.1|3|1)","GM12878:H3K27me3,K562:H3K36me3,HepG2:H3K27me3",,,,0.8565,0.7863,0.7206,0.78,0.86,0.74,,,,,,,,,,,,,,,,
missense_variant,MAP7D3,MISSENSE,NM_024597.3:p.Gln628Arg/c.1883A>G,cAa/cGa,MODERATE,COSM1132401(2),0.489007,0.716,rs2273221,0.34(T),"0.002,0.001,0.002,0.003(B,B,B,B)",0.895(L),-0.9312(T),,chrX,135310785,135310785,T,C,hom,"missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln610Arg/c.1829A>G|858|MAP7D3|protein_coding|CODING|NM_001173516.1|11|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln593Arg/c.1778A>G|841|MAP7D3|protein_coding|CODING|NM_001173517.1|10|1),missense_variant(MODERATE|MISSENSE|cAa/cGa|p.Gln628Arg/c.1883A>G|876|MAP7D3|protein_coding|CODING|NM_024597.3|11|1)","HUVEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5084,0.4637,0.5352,0.46,0.30,0.54,,,1.000(P),"1.97,1.97,1.97,1.97(T,T,T,T)",0.0000(T),0.163,0.750132,5.44,-5.9,-0.879000,-2.118000,-0.479000,0.021000,0.000000,0.001000,6.02
missense_variant,MAP7D3,MISSENSE,NM_024597.3:p.Glu502Ala/c.1505A>C,gAa/gCa,MODERATE,COSM3759365(1),0.548344,0.716,rs1055497,1(T),"0.0,0.0,0.0,0.0(B,B,B,B)",-0.205(N),-0.9477(T),,chrX,135313034,135313034,T,G,hom,"missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu484Ala/c.1451A>C|858|MAP7D3|protein_coding|CODING|NM_001173516.1|9|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu467Ala/c.1400A>C|841|MAP7D3|protein_coding|CODING|NM_001173517.1|8|1),missense_variant(MODERATE|MISSENSE|gAa/gCa|p.Glu502Ala/c.1505A>C|876|MAP7D3|protein_coding|CODING|NM_024597.3|9|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.5084,0.4943,0.5392,0.54,0.52,0.55,,0.857688(N),1.000(P),"4.28,3.65,3.65,3.82(T,T,T,T)",0.0000(T),0.236,-1.160453,5.8,1.03,-1.902000,-0.527000,0.932000,0.000000,0.000000,0.001000,3.6492
missense_variant,GPR101,MISSENSE,NM_054021.1:p.Val124Leu/c.370G>T,Gtg/Ttg,MODERATE,COSM4156606(1),0.232053,0.3455,rs1190736,0.25(T),0.674(P),1.155(L),-0.8754(T),,chrX,136113464,136113464,C,A,hom,missense_variant(MODERATE|MISSENSE|Gtg/Ttg|p.Val124Leu/c.370G>T|508|GPR101|protein_coding|CODING|NM_054021.1|1|1),"GM06990:H3K27me3,HUVEC:H3K27me3,GM12878:H3K27me3,GM12878:H3K36me3,H1ESC:H3K27me3,NH-A:H3K27me3,HMEC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3,HepG2:H3K27me3",,,,0.1741,0.1947,0.483,0.35,0.08,0.51,,0.008604(N),0.002(P),1.71(T),0.0000(T),0.391,1.945593,5.04,4.14,0.600000,2.081000,2.797000,0.179000,0.862000,0.981000,12.3336
synonymous_variant,MCF2,SILENT,NM_001171876.1:p.Gly730Gly/c.2190A>T,ggA/ggT,LOW,COSM1465995(1),0.192318,0.0615,rs1051619,,,,-0.9041(T),,chrX,138679712,138679712,T,A,hom,"synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly714Gly/c.2142A>T|985|MCF2|protein_coding|CODING|NM_001099855.1|21|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly730Gly/c.2190A>T|1001|MCF2|protein_coding|CODING|NM_001171876.1|22|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly615Gly/c.1845A>T|821|MCF2|protein_coding|CODING|NM_001171877.1|17|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly654Gly/c.1962A>T|860|MCF2|protein_coding|CODING|NM_001171878.1|18|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly670Gly/c.2010A>T|941|MCF2|protein_coding|CODING|NM_001171879.1|19|1),synonymous_variant(LOW|SILENT|ggA/ggT|p.Gly654Gly/c.1962A>T|925|MCF2|protein_coding|CODING|NM_005369.4|18|1)",,,,,0.1852,0.2748,0.4896,0.36,0.09,0.51,,,0.000(P),,0.0000(T),.,-0.606460,5.69,1.45,0.486000,0.279000,-0.162000,0.333000,0.021000,0.002000,5.805
missense_variant,ATP11C,MISSENSE,NM_173694.4:p.Cys114Trp/c.342T>G,tgT/tgG,MODERATE,,0.992053,0.9974,rs2491014,1(T),"0.0,0.0(B,B)",-3.15(N),-0.9446(T),,chrX,138897130,138897130,A,C,hom,"missense_variant(MODERATE|MISSENSE|tgT/tgG|p.Cys114Trp/c.342T>G|1119|ATP11C|protein_coding|CODING|NM_001010986.2|5|1),missense_variant(MODERATE|MISSENSE|tgT/tgG|p.Cys114Trp/c.342T>G|1132|ATP11C|protein_coding|CODING|NM_173694.4|5|1)",,,,,1,0.9905,0.97,0.98,1.00,0.98,,0.000000(N),0.077(P),"-1.0,-1.0,-1.0,-1.0,-1.0(T,T,T,T,T)",0.0000(T),0.345,-0.188846,4.29,4.29,-0.322000,0.971000,5.222000,0.870000,1.000000,1.000000,10.717
missense_variant,MAGEC3,MISSENSE,NM_138702.1:p.Ser155Pro/c.463T>C,Tcc/Ccc,MODERATE,,0.439205,0.4817,rs11095909,0.43(T),0.0(B),0(N),-0.9844(T),,chrX,140967165,140967165,T,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser155Pro/c.463T>C|643|MAGEC3|protein_coding|CODING|NM_138702.1|3|1),,,,,0.383,0.458,0.0888,0.27,0.60,0.08,,,1.000(P),3.29(T),0.0000(T),0.015,-1.811288,0.994,-1.44,-2.375000,-1.544000,-2.198000,0.000000,0.000000,0.000000,0.3624
missense_variant,MAGEC3,MISSENSE,NM_138702.1:p.Leu165Met/c.493T>A,Ttg/Atg,MODERATE,,0.369536,0.4817,rs11095910,0.14(T),0.0(B),0(N),-0.9044(T),,chrX,140967195,140967195,T,A,hom,missense_variant(MODERATE|MISSENSE|Ttg/Atg|p.Leu165Met/c.493T>A|643|MAGEC3|protein_coding|CODING|NM_138702.1|3|1),,,,,0.3747,0.4389,0.0888,0.21,0.42,0.08,,,1.000(P),3.15(T),0.0000(T),0.075,-4.228477,0.225,-0.451,-2.905000,-2.698000,-4.506000,0.000000,0.000000,0.000000,.
missense_variant,MAGEC3,MISSENSE,NM_138702.1:p.Ala307Thr/c.919G>A,Gcc/Acc,MODERATE,COSM4156625(1),0.713907,0.4948,rs176024,0.13(T),0.0(B),0(N),-1.0575(T),,chrX,140983064,140983064,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala307Thr/c.919G>A|643|MAGEC3|protein_coding|CODING|NM_138702.1|5|1),5_prime_UTR_variant(MODIFIER||1375|c.-369G>A|346|MAGEC3|protein_coding|CODING|NM_177456.2|2|1)",,,,,0.6226,0.7252,0.9491,0.90,0.81,0.95,,,1.000(P),"4.02,1.01(T,T)",0.0000(T),0.063,-0.455031,1.02,0.00707,-1.886000,-0.568000,-1.951000,0.000000,0.000000,0.000000,5.668
missense_variant,MAGEC3,MISSENSE,NM_138702.1:p.Ala328Thr/c.982G>A,Gca/Aca,MODERATE,COSM4002264(1),0.616689,0.4856,rs176026,0.46(T),0.811(P),1.24(L),-0.9724(T),,chrX,140983127,140983127,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gca/Aca|p.Ala328Thr/c.982G>A|643|MAGEC3|protein_coding|CODING|NM_138702.1|5|1),5_prime_UTR_variant(MODIFIER||1312|c.-306G>A|346|MAGEC3|protein_coding|CODING|NM_177456.2|2|1)",,,,,0.6393,0.6889,0.9217,0.78,0.51,0.93,,,1.000(P),"3.78,1.01(T,T)",0.0000(T),0.099,0.923358,0.684,0.684,0.165000,0.623000,0.475000,0.005000,0.003000,0.001000,.
missense_variant,MAGEC1,MISSENSE,NM_005462.4:p.Thr151Ile/c.452C>T,aCt/aTt,MODERATE,,0.29245,0.1898,rs176037,0.44(T),0.127(B),0(N),-1.0313(T),,chrX,140993642,140993642,C,T,hom,missense_variant(MODERATE|MISSENSE|aCt/aTt|p.Thr151Ile/c.452C>T|1142|MAGEC1|protein_coding|CODING|NM_005462.4|4|1),,,,,0.2604,0.2901,0.4935,0.38,0.26,0.45,,,1.000(P),4.19(T),0.0000(T),0.064,-0.697338,.,.,-0.000000,-0.000000,0.109000,0.000000,0.000000,0.002000,5.8318
missense_variant,MAGEC1,MISSENSE,NM_005462.4:p.His327Gln/c.981C>G,caC/caG,MODERATE,,0.702517,0.7107,rs176047,1(T),0.0(B),0(N),-0.9547(T),,chrX,140994171,140994171,C,G,hom,missense_variant(MODERATE|MISSENSE|caC/caG|p.His327Gln/c.981C>G|1142|MAGEC1|protein_coding|CODING|NM_005462.4|4|1),,,,,0.7465,0.7271,0.7559,0.67,0.57,0.73,,,1.000(P),4.46(T),0.0000(T),0.007,-1.186854,.,.,-2.261000,-2.354000,-3.962000,0.029000,0.029000,0.004000,1.5002
synonymous_variant,MAGEC1,SILENT,NM_005462.4:p.Glu1058Glu/c.3174G>A,gaG/gaA,LOW,COSM1179703(3),0.140132,0.127,rs12845617,,,,,,chrX,140996364,140996364,G,A,hom,synonymous_variant(LOW|SILENT|gaG/gaA|p.Glu1058Glu/c.3174G>A|1142|MAGEC1|protein_coding|CODING|NM_005462.4|4|1),,,,,0.2228,0.0897,0.1632,0.15,0.12,0.17,,,,,,,,,,,,,,,,
synonymous_variant,MAGEC2,SILENT,NM_016249.3:p.Pro303Pro/c.909G>A,ccG/ccA,LOW,COSM4156639(1),0.713377,0.8783,rs3765272,,,,,,chrX,141290865,141290865,C,T,hom,synonymous_variant(LOW|SILENT|ccG/ccA|p.Pro303Pro/c.909G>A|373|MAGEC2|protein_coding|CODING|NM_016249.3|3|1),K562:H3K36me3,,,,0.6783,0.7767,0.7193,0.66,0.60,0.70,,,,,,,,,,,,,,,,
synonymous_variant,SLITRK2,SILENT,NM_001144003.2:p.Pro313Pro/c.939T>C,ccT/ccC,LOW,,0.958146,1,rs2748588,,,,,,chrX,144904882,144904882,T,C,hom,"synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_001144003.2|5|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_001144005.2|5|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_001144008.2|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_001144009.2|2|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_032539.4|5|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_001144004.2|5|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_001144006.2|3|1),synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro313Pro/c.939T>C|845|SLITRK2|protein_coding|CODING|NM_001144010.2|3|1)","H1ESC:H3K27me3,NH-A:H3K27me3",,,,0.9819,0.9676,0.859,0.90,0.97,0.86,,,,,,,,,,,,,,,,
synonymous_variant,FMR1,SILENT,NM_002024.5:p.Arg138Arg/c.414G>A,cgG/cgA,LOW,COSM3759387(1),0.0996026,0.0013,rs25707,,,,,,chrX,147010320,147010320,G,A,hom,"synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg138Arg/c.414G>A|537|FMR1|protein_coding|CODING|NM_001185075.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg138Arg/c.414G>A|611|FMR1|protein_coding|CODING|NM_001185076.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg138Arg/c.414G>A|516|FMR1|protein_coding|CODING|NM_001185081.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg138Arg/c.414G>A|586|FMR1|protein_coding|CODING|NM_001185082.1|5|1),synonymous_variant(LOW|SILENT|cgG/cgA|p.Arg138Arg/c.414G>A|632|FMR1|protein_coding|CODING|NM_002024.5|5|1),non_coding_exon_variant(MODIFIER|||n.643G>A||FMR1||CODING|NR_033699.1|5|1),non_coding_exon_variant(MODIFIER|||n.643G>A||FMR1||CODING|NR_033700.1|5|1)","K562:H3K36me3,HSMM:H3K36me3,HepG2:H3K36me3",,RCV000079966.3,,0.1086,0.0401,0.107,0.11,0.17,0.08,,,,,,,,,,,,,,,,
synonymous_variant,AFF2,SILENT,NM_002025.3:p.Ser496Ser/c.1488G>A,tcG/tcA,LOW,,0.141987,0.0039,rs12011040,,,,,,chrX,148035200,148035200,G,A,hom,"synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser463Ser/c.1389G>A|1276|AFF2|protein_coding|CODING|NM_001169122.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser486Ser/c.1458G>A|1301|AFF2|protein_coding|CODING|NM_001169123.1|10|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser461Ser/c.1383G>A|1276|AFF2|protein_coding|CODING|NM_001169124.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser457Ser/c.1371G>A|1272|AFF2|protein_coding|CODING|NM_001169125.1|9|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser137Ser/c.411G>A|952|AFF2|protein_coding|CODING|NM_001170628.1|7|1),synonymous_variant(LOW|SILENT|tcG/tcA|p.Ser496Ser/c.1488G>A|1311|AFF2|protein_coding|CODING|NM_002025.3|10|1)",,,RCV000116243.1,,0.0195,0.063,0.0509,0.17,0.40,0.04,,,,,,,,,,,,,,,,
synonymous_variant,CXorf40A,SILENT,NM_001171907.2:p.Pro153Pro/c.459A>T,ccA/ccT,LOW,COSM4156653(1),0.942517,1,rs12116111,,,,,,chrX,148628490,148628490,A,T,hom,"synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro153Pro/c.459A>T|158|CXorf40A|protein_coding|CODING|NM_001171907.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro153Pro/c.459A>T|158|CXorf40A|protein_coding|CODING|NM_001171908.2|5|1),synonymous_variant(LOW|SILENT|ccA/ccT|p.Pro153Pro/c.459A>T|158|CXorf40A|protein_coding|CODING|NM_178124.5|5|1),intron_variant(MODIFIER|||c.432+27A>T|146|CXorf40A|protein_coding|CODING|NM_001171909.2|4|1)","NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,1,0.9885,0.9987,,,,,,,,,,,,,,,,,,,
synonymous_variant,MAGEA11,SILENT,NM_005366.4:p.Leu359Leu/c.1077T>C,ctT/ctC,LOW,COSM4002271(1),0.507815,0.2343,rs2233050,,,,,,chrX,148798223,148798223,T,C,hom,"synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu330Leu/c.990T>C|400|MAGEA11|protein_coding|CODING|NM_001011544.1|5|1),synonymous_variant(LOW|SILENT|ctT/ctC|p.Leu359Leu/c.1077T>C|429|MAGEA11|protein_coding|CODING|NM_005366.4|5|1)","H1ESC:H3K27me3,HepG2:H3K27me3",,,,0.188,0.6508,0.5183,0.60,0.81,0.48,,,,,,,,,,,,,,,,
synonymous_variant,MAGEA8,SILENT,NM_001166400.1:p.Ala227Ala/c.681A>G,gcA/gcG,LOW,COSM4154874(1),0.887152,0.8887,rs5983916,,,,,,chrX,149013727,149013727,A,G,hom,"synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala227Ala/c.681A>G|318|MAGEA8|protein_coding|CODING|NM_001166400.1|4|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala227Ala/c.681A>G|318|MAGEA8|protein_coding|CODING|NM_001166401.1|3|1),synonymous_variant(LOW|SILENT|gcA/gcG|p.Ala227Ala/c.681A>G|318|MAGEA8|protein_coding|CODING|NM_005364.4|3|1),intron_variant(MODIFIER|||n.81-2455T>C||MAGEA8-AS1||NON_CODING|NR_102703.1|1|1)",,,,,0.844,0.9046,0.8016,0.85,0.96,0.79,,,,,,,,,,,,,,,,
synonymous_variant,MTMR1,SILENT,NM_003828.2:p.Gly634Gly/c.1902C>T,ggC/ggT,LOW,COSM1466306(2),0.82649,0.9921,rs16995747,,,,,,chrX,149931106,149931106,C,T,hom,synonymous_variant(LOW|SILENT|ggC/ggT|p.Gly634Gly/c.1902C>T|665|MTMR1|protein_coding|CODING|NM_003828.2|15|1),"GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.7953,0.9218,0.8825,0.81,0.68,0.88,,,,,,,,,,,,,,,,
missense_variant,GPR50,MISSENSE,NM_004224.3:p.Ile606Val/c.1816A>G,Att/Gtt,MODERATE,COSM3759396(2),0.273377,0.017,rs13440581,0.08(T),0.002(B),0.695(N),-0.9413(T),,chrX,150349871,150349871,A,G,hom,missense_variant(MODERATE|MISSENSE|Att/Gtt|p.Ile606Val/c.1816A>G|617|GPR50|protein_coding|CODING|NM_004224.3|2|1),"GM12878:H3K36me3,H1ESC:H3K27me3,K562:H3K27me3,NHEK:H3K27me3,HepG2:H3K27me3",,,,0.2758,0.2595,0.5836,0.47,0.27,0.58,,0.041201(N),1.000(P),-0.47(T),0.0000(T),0.074,0.375080,3.33,2.13,0.430000,0.493000,-1.224000,0.013000,0.002000,0.000000,4.235
synonymous_variant,PASD1,SILENT,NM_173493.2:p.Gly171Gly/c.513A>G,ggA/ggG,LOW,,0.117086,0.0183,rs5924977,,,,,,chrX,150791503,150791503,A,G,hom,synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly171Gly/c.513A>G|773|PASD1|protein_coding|CODING|NM_173493.2|7|1),,,,,0.1978,0.1336,0.1775,0.14,0.10,0.17,,,,,,,,,,,,,,,,
synonymous_variant,PASD1,SILENT,NM_173493.2:p.Cys174Cys/c.522C>T,tgC/tgT,LOW,,0.110464,0.0183,rs5924978,,,,,,chrX,150791512,150791512,C,T,hom,synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys174Cys/c.522C>T|773|PASD1|protein_coding|CODING|NM_173493.2|7|1),,,,,0.188,0.126,0.1593,0.13,0.10,0.15,,,,,,,,,,,,,,,,
missense_variant,PASD1,MISSENSE,NM_173493.2:p.Gln213Glu/c.637C>G,Caa/Gaa,MODERATE,COSM3759399(1),0.135364,0.0249,rs5924658,0.19(T),0.206(B),0.805(L),-1.0924(T),,chrX,150817094,150817094,C,G,hom,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln213Glu/c.637C>G|773|PASD1|protein_coding|CODING|NM_173493.2|9|1),,,,,0.195,0.208,0.3029,0.19,0.04,0.28,,,1.000(P),-0.51(T),0.0000(T),0.039,1.296431,4.0,1.12,0.422000,-0.009000,-0.766000,0.051000,0.000000,0.000000,4.0817
synonymous_variant,PASD1,SILENT,NM_173493.2:p.Leu567Leu/c.1699C>T,Ctg/Ttg,LOW,COSM1466336(1),0.193907,0.0707,rs41299110,,,,,,chrX,150840916,150840916,C,T,hom,synonymous_variant(LOW|SILENT|Ctg/Ttg|p.Leu567Leu/c.1699C>T|773|PASD1|protein_coding|CODING|NM_173493.2|14|1),HepG2:H3K27me3,,,,0.2465,0.3149,0.2533,0.20,0.14,0.24,,,,,,,,,,,,,,,,
missense_variant,CNGA2,MISSENSE,NM_005140.1:p.Trp139Leu/c.416G>T,tGg/tTg,MODERATE,COSM1179851(1),0.12106,0.2605,rs35350051,0.71(T),0.002(B),-0.175(N),-0.5345(T),,chrX,150909307,150909307,G,T,hom,missense_variant(MODERATE|MISSENSE|tGg/tTg|p.Trp139Leu/c.416G>T|664|CNGA2|protein_coding|CODING|NM_005140.1|5|1),,,,,0.1086,0.1431,0.1253,0.10,0.03,0.15,,0.004228(N),0.488(P),-4.27(D),0.0140(T),0.374,-0.547556,5.44,5.44,0.544000,2.267000,2.216000,0.588000,1.000000,1.000000,15.5522
missense_variant,MAGEA4,MISSENSE,NM_001011548.1:p.Ala173Thr/c.517G>A,Gcc/Acc,MODERATE,COSM1466377(1),0.534834,0.5942,rs1047251,,0.003(B),-0.95(N),-0.9856(T),,chrX,151092653,151092653,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala173Thr/c.517G>A|317|MAGEA4|protein_coding|CODING|NM_001011548.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala173Thr/c.517G>A|317|MAGEA4|protein_coding|CODING|NM_001011549.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala173Thr/c.517G>A|317|MAGEA4|protein_coding|CODING|NM_001011550.1|3|1),missense_variant(MODERATE|MISSENSE|Gcc/Acc|p.Ala173Thr/c.517G>A|317|MAGEA4|protein_coding|CODING|NM_002362.4|3|1)",,,,,0.461,0.3874,0.5222,0.57,0.61,0.54,,0.591025(N),1.000(P),"3.61,3.61,3.61,3.61,3.61,3.61,3.61,3.61,3.61,3.61,3.61,3.61,3.61,3.61(T,T,T,T,T,T,T,T,T,T,T,T,T,T)",0.0000(T),0.271,-1.467449,2.37,-0.42,-0.885000,-0.660000,-1.022000,0.003000,0.000000,0.000000,0.041
missense_variant,GABRE,MISSENSE,NM_004961.3:p.Pro437Leu/c.1310C>T,cCc/cTc,MODERATE,,0.0145695,0,rs45439991,0.05(D),0.587(P),0.895(L),-0.6696(T),,chrX,151123384,151123384,G,A,hom,missense_variant(MODERATE|MISSENSE|cCc/cTc|p.Pro437Leu/c.1310C>T|506|GABRE|protein_coding|CODING|NM_004961.3|9|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.0042,0.0191,0.0535,0.04,0.01,0.05,,0.118563(N),1.000(P),-2.0(D),0.1486(T),0.095,0.947195,2.34,1.46,-0.191000,0.402000,-0.017000,0.001000,0.001000,0.000000,4.4187
synonymous_variant,GABRE,SILENT,NM_004961.3:p.Ala193Ala/c.579C>T,gcC/gcT,LOW,COSM3759406(1),0.311258,0.3259,rs2256882,,,,,,chrX,151129822,151129822,G,A,hom,"synonymous_variant(LOW|SILENT|gcC/gcT|p.Ala193Ala/c.579C>T|506|GABRE|protein_coding|CODING|NM_004961.3|5|1),upstream_gene_variant(MODIFIER||1638|||MIR452||NON_CODING|NR_029973.1||1)","HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.1838,0.126,0.1123,0.28,0.56,0.12,,,,,,,,,,,,,,,,
missense_variant,GABRE,MISSENSE,NM_004961.3:p.Ser102Ala/c.304T>G,Tcc/Gcc,MODERATE,,0.70649,0.8599,rs1139916,0.49(T),0.415(B),1.75(L),-0.9033(T),,chrX,151138179,151138179,A,C,hom,missense_variant(MODERATE|MISSENSE|Tcc/Gcc|p.Ser102Ala/c.304T>G|506|GABRE|protein_coding|CODING|NM_004961.3|3|1),"NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3",,,,0.8412,0.7405,0.6984,0.61,0.50,0.67,,0.069169(N),0.999(P),"-1.09,-1.09(T,T)",0.0000(T),0.098,1.052992,5.28,2.71,0.483000,0.204000,3.505000,0.024000,0.001000,0.998000,7.3801
missense_variant,MAGEA10,MISSENSE,NM_001011543.2:p.Val234Ile/c.700G>A,Gtc/Atc,MODERATE,,0.974305,1,rs210586,1(T),0.002(B),-2.96(N),-1.0220(T),,chrX,151303393,151303393,C,T,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val234Ile/c.700G>A|369|MAGEA10|protein_coding|CODING|NM_001011543.2|5|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val234Ile/c.700G>A|369|MAGEA10|protein_coding|CODING|NM_001251828.1|5|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val234Ile/c.700G>A|369|MAGEA10|protein_coding|CODING|NM_021048.4|4|1),intron_variant(MODIFIER|||c.-278+3554G>A|124|MAGEA10-MAGEA5|protein_coding|CODING|NM_001204811.2|1|1)",,,,,1,0.9943,1,0.97,0.93,1.00,,0.000013(N),1.000(P),"4.01,4.01(T,T)",0.0000(T),0.172,-0.406099,2.6,2.6,-0.885000,0.292000,0.851000,0.694000,0.001000,0.041000,4.0585
missense_variant,MAGEA10,MISSENSE,NM_001011543.2:p.Arg166Lys/c.497G>A,aGa/aAa,MODERATE,,0.949139,1,rs210585,1(T),0.006(B),-0.115(N),-0.9886(T),,chrX,151303596,151303596,C,T,hom,"missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg166Lys/c.497G>A|369|MAGEA10|protein_coding|CODING|NM_001011543.2|5|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg166Lys/c.497G>A|369|MAGEA10|protein_coding|CODING|NM_001251828.1|5|1),missense_variant(MODERATE|MISSENSE|aGa/aAa|p.Arg166Lys/c.497G>A|369|MAGEA10|protein_coding|CODING|NM_021048.4|4|1),intron_variant(MODIFIER|||c.-278+3351G>A|124|MAGEA10-MAGEA5|protein_coding|CODING|NM_001204811.2|1|1)",,,,,0.9986,0.9866,1,0.94,0.82,1.00,,0.082165(N),1.000(P),"3.65,3.65,3.65(T,T,T)",0.0000(T),0.18,0.569980,2.6,-3.22,-0.885000,-1.520000,-1.974000,0.092000,0.000000,0.000000,6.1696
missense_variant,GABRQ,MISSENSE,NM_018558.3:p.Phe478Ile/c.1432T>A,Ttt/Att,MODERATE,COSM3759407(1),0.435497,0.3547,rs3810651,1(T),0.0(B),-1.355(N),-1.1052(T),,chrX,151821277,151821277,T,A,hom,missense_variant(MODERATE|MISSENSE|Ttt/Att|p.Phe478Ile/c.1432T>A|632|GABRQ|protein_coding|CODING|NM_018558.3|9|1),H1ESC:H3K36me3,,,,0.4206,0.7099,0.5561,,,,,0.000025(N),1.000(P),-0.99(T),0.0000(T),0.059,-1.126593,4.59,-9.19,-1.197000,-4.339000,-0.939000,0.008000,0.000000,0.000000,6.847
synonymous_variant,MAGEA6,SILENT,NM_005363.2:p.Tyr145Tyr/c.435C>T,taC/taT,LOW,,0.123974,0.0366,rs7057497,,,,,,chrX,151869745,151869745,C,T,hom,"synonymous_variant(LOW|SILENT|taC/taT|p.Tyr145Tyr/c.435C>T|314|MAGEA6|protein_coding|CODING|NM_005363.2|3|1),synonymous_variant(LOW|SILENT|taC/taT|p.Tyr145Tyr/c.435C>T|314|MAGEA6|protein_coding|CODING|NM_175868.1|3|1)",K562:H3K36me3,,,,0.0669,0.0763,0.1645,0.18,0.22,0.16,,,,,,,,,,,,,,,,
missense_variant,MAGEA6,MISSENSE,NM_005363.2:p.Ser152Ile/c.455G>T,aGc/aTc,MODERATE,,0.0980132,0.034,rs7056365,0.1(T),0.216(B),2.375(M),-1.0042(T),,chrX,151869765,151869765,G,T,hom,"missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser152Ile/c.455G>T|314|MAGEA6|protein_coding|CODING|NM_005363.2|3|1),missense_variant(MODERATE|MISSENSE|aGc/aTc|p.Ser152Ile/c.455G>T|314|MAGEA6|protein_coding|CODING|NM_175868.1|3|1)",K562:H3K36me3,,,,0.0669,0.063,0.1632,0.15,0.14,0.16,,,1.000(P),"3.5,3.5,3.5(T,T,T)",0.0001(T),0.443,0.415311,0.605,0.605,0.181000,0.573000,0.040000,0.046000,0.013000,0.000000,.
missense_variant,CSAG1,MISSENSE,NM_001102576.2:p.Tyr28Phe/c.83A>T,tAc/tTc,MODERATE,,0.0998675,0.0314,rs1894359,0.08(T),0.0(B),,-1.0824(T),,chrX,151908844,151908844,A,T,hom,"missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr28Phe/c.83A>T|78|CSAG1|protein_coding|CODING|NM_001102576.2|3|1),missense_variant(MODERATE|MISSENSE|tAc/tTc|p.Tyr28Phe/c.83A>T|78|CSAG1|protein_coding|CODING|NM_153478.2|4|1)",,,,,0.078,0.0706,0.201,0.13,0.08,0.16,,,1.000(P),"1.39,1.39,0.78(T,T,T)",0.0004(T),0.03,-0.329767,0.837,0.837,-1.340000,-0.223000,-0.150000,0.003000,0.001000,0.002000,.
stop_gained,CSAG1,NONSENSE,NM_001102576.2:p.Tyr28*/c.84C>G,taC/taG,HIGH,,0.0998675,0.0314,rs1894360,0.21(T),,,,CSAG1:1.00(2);CSAG1:1.00(2);,chrX,151908845,151908845,C,G,hom,"stop_gained(HIGH|NONSENSE|taC/taG|p.Tyr28*/c.84C>G|78|CSAG1|protein_coding|CODING|NM_001102576.2|3|1),stop_gained(HIGH|NONSENSE|taC/taG|p.Tyr28*/c.84C>G|78|CSAG1|protein_coding|CODING|NM_153478.2|4|1)",,,,,0.078,0.0706,0.201,0.13,0.08,0.16,,,0.000(P),,,.,2.618155,0.837,0.837,-1.113000,-0.097000,-0.060000,0.003000,0.000000,0.002000,.
missense_variant,CSAG1,MISSENSE,NM_001102576.2:p.Lys62Arg/c.185A>G,aAa/aGa,MODERATE,COSM3759408(1),0.576424,0.3547,rs2515848,0.25(T),0.0(B),,-1.0102(T),,chrX,151909156,151909156,A,G,hom,"missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys62Arg/c.185A>G|78|CSAG1|protein_coding|CODING|NM_001102576.2|4|1),missense_variant(MODERATE|MISSENSE|aAa/aGa|p.Lys62Arg/c.185A>G|78|CSAG1|protein_coding|CODING|NM_153478.2|5|1)",,,,,0.4276,0.7653,0.5705,0.64,0.73,0.58,,,1.000(P),"1.35,1.35(T,T)",0.0000(T),0.09,-0.621960,0.837,0.837,-1.150000,-0.098000,0.195000,0.003000,0.000000,0.002000,.
synonymous_variant,NSDHL,SILENT,NM_001129765.1:p.Gly44Gly/c.132T>G,ggT/ggG,LOW,,0.861457,0.9123,rs5969919,,,,,,chrX,152018832,152018832,T,G,hom,"synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly44Gly/c.132T>G|373|NSDHL|protein_coding|CODING|NM_001129765.1|4|1),synonymous_variant(LOW|SILENT|ggT/ggG|p.Gly44Gly/c.132T>G|373|NSDHL|protein_coding|CODING|NM_015922.2|3|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HMEC:H3K36me3,IMR90:H3K36me3,CD4:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.9443,0.9389,0.8681,0.82,0.74,0.86,,,,,,,,,,,,,,,,
missense_variant,ZNF185,MISSENSE,NM_001178106.1:p.Arg9His/c.26G>A,cGc/cAc,MODERATE,COSM3759409(1),0.254834,0.1296,rs6526142,0.16(T),"0.121,0.067,0.085,0.188,0.121,0.085(B,B,B,B,B,B)",0(N),-0.9680(T),,chrX,152083059,152083059,G,A,hom,"missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg9His/c.26G>A|721|ZNF185|protein_coding|CODING|NM_001178106.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg9His/c.26G>A|692|ZNF185|protein_coding|CODING|NM_001178107.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg9His/c.26G>A|690|ZNF185|protein_coding|CODING|NM_001178108.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg9His/c.26G>A|660|ZNF185|protein_coding|CODING|NM_001178109.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg9His/c.26G>A|630|ZNF185|protein_coding|CODING|NM_001178110.1|1|1),missense_variant(MODERATE|MISSENSE|cGc/cAc|p.Arg9His/c.26G>A|689|ZNF185|protein_coding|CODING|NM_007150.3|1|1)","NHEK:H3K36me3,HepG2:H3K27me3",,,,0.273,0.145,0.3042,0.31,0.33,0.29,,,1.000(P),"0.88,0.88,0.89,0.89,0.88(T,T,T,T,T)",0.0000(T),0.103,0.305112,4.17,2.32,0.529000,0.494000,1.256000,0.272000,0.002000,0.008000,4.1622
missense_variant,PNMA3,MISSENSE,NM_013364.5:p.Val377Ala/c.1130T>C,gTg/gCg,MODERATE,COSM4156672(1),0.903841,0.9319,rs6526155,1(T),0.0(B),-1.525(N),-1.0223(T),,chrX,152226542,152226542,T,C,hom,"missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val377Ala/c.1130T>C|455|PNMA3|protein_coding|CODING|NM_001282535.1|2|1),missense_variant(MODERATE|MISSENSE|gTg/gCg|p.Val377Ala/c.1130T>C|463|PNMA3|protein_coding|CODING|NM_013364.5|2|1)","HUVEC:H3K27me3,H1ESC:H3K27me3,HMEC:H3K27me3,NHEK:H3K27me3,IMR90:H3K27me3,HSMM:H3K27me3",,,,0.837,0.9313,0.8773,0.89,0.94,0.86,,,1.000(P),"2.49,2.49,2.49(T,T,T)",0.0000(T),0.02,-1.948235,2.15,-0.952,-2.608000,-0.844000,-1.803000,0.000000,0.000000,0.000000,4.8244
synonymous_variant,ZNF275,SILENT,NM_001080485.3:p.Pro13Pro/c.39T>C,ccT/ccC,LOW,,0.470464,0.5654,rs3213466,,,,,,chrX,152610985,152610985,T,C,hom,synonymous_variant(LOW|SILENT|ccT/ccC|p.Pro13Pro/c.39T>C|329|ZNF275|protein_coding|CODING|NM_001080485.3|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,0.305,0.4198,0.3133,0.40,0.58,0.31,,,,,,,,,,,,,,,,
missense_variant,HAUS7,MISSENSE,NM_017518.7:p.Gly344Val/c.1031G>T,gGc/gTc,MODERATE,,,,,,,1.7(L),-0.9566(T),,chrX,152719896,152719896,C,A,hom,"missense_variant(MODERATE|MISSENSE|gGc/gTc|p.Gly344Val/c.1031G>T|368|HAUS7|protein_coding|CODING|NM_017518.7|9|1),non_coding_exon_variant(MODIFIER|||n.1845G>T||HAUS7||CODING|NR_073156.1|12|1)","H1ESC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,,,,,,,,,1.000(N),,0.0699(T),.,2.525275,4.88,-2.76,0.529000,-0.654000,-1.097000,0.337000,0.000000,0.000000,5.5089
synonymous_variant,BGN,SILENT,NM_001711.4:p.Ser180Ser/c.540C>T,agC/agT,LOW,COSM1569627(1),0.335364,0.3979,rs1126499,,,,,,chrX,152771509,152771509,C,T,hom,synonymous_variant(LOW|SILENT|agC/agT|p.Ser180Ser/c.540C>T|368|BGN|protein_coding|CODING|NM_001711.4|4|1),"HUVEC:H3K36me3,IMR90:H3K36me3",,,,0.4025,0.3779,0.4948,0.36,0.16,0.47,,,,,,,,,,,,,,,,
synonymous_variant,ATP2B3,SILENT,NM_001001344.2:p.Gly491Gly/c.1473A>G,ggA/ggG,LOW,,0.98543,1,rs3020949,,,,,,chrX,152815089,152815089,A,G,hom,"synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly491Gly/c.1473A>G|1220|ATP2B3|protein_coding|CODING|NM_001001344.2|9|1),synonymous_variant(LOW|SILENT|ggA/ggG|p.Gly491Gly/c.1473A>G|1173|ATP2B3|protein_coding|CODING|NM_021949.3|9|1)","K562:H3K27me3,IMR90:H3K27me3,HepG2:H3K27me3",,,,1,0.9924,1,0.99,0.97,1.00,,,,,,,,,,,,,,,,
synonymous_variant,PLXNB3,SILENT,NM_001163257.1:p.Asp183Asp/c.549C>T,gaC/gaT,LOW,,0.0119205,0,rs112274376,,,,,,chrX,153032762,153032762,C,T,hom,"synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp183Asp/c.549C>T|1932|PLXNB3|protein_coding|CODING|NM_001163257.1|4|1),synonymous_variant(LOW|SILENT|gaC/gaT|p.Asp160Asp/c.480C>T|1909|PLXNB3|protein_coding|CODING|NM_005393.2|3|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0,0.0057,0.0026,0.02,0.04,0.00,,,,,,,,,,,,,,,,
missense_variant,PLXNB3,MISSENSE,NM_001163257.1:p.Val621Ile/c.1861G>A,Gtc/Atc,MODERATE,COSM1466598(1),0.301192,0.106,rs2266879,0.28(T),"0.007,0.161,0.026,0.012(B,B,B,B)",0.725(N),-0.9746(T),,chrX,153035798,153035798,G,A,hom,"missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val621Ile/c.1861G>A|1932|PLXNB3|protein_coding|CODING|NM_001163257.1|10|1),missense_variant(MODERATE|MISSENSE|Gtc/Atc|p.Val598Ile/c.1792G>A|1909|PLXNB3|protein_coding|CODING|NM_005393.2|9|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.2437,0.3149,0.6292,0.51,0.27,0.64,,0.832721(N),0.999(P),"5.1,5.06,4.51,1.75,-0.46(T,T,T,T,T)",0.0000(T),0.045,0.317087,4.78,-2.94,-0.303000,-1.033000,-0.430000,0.021000,0.037000,0.000000,11.2095
missense_variant,PLXNB3,MISSENSE,NM_001163257.1:p.Glu1179Asp/c.3537G>C,gaG/gaC,MODERATE,COSM3759413(2),0.774305,0.7775,rs6643791,0.23(T),"0.005,0.018,0.005(B,B,B)",1.035(L),-1.0017(T),,chrX,153039502,153039502,G,C,hom,"missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu1179Asp/c.3537G>C|1932|PLXNB3|protein_coding|CODING|NM_001163257.1|21|1),missense_variant(MODERATE|MISSENSE|gaG/gaC|p.Glu1156Asp/c.3468G>C|1909|PLXNB3|protein_coding|CODING|NM_005393.2|20|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3",,,,0.8482,0.8282,0.8016,0.75,0.69,0.79,,0.001117(N),0.871(P),"5.2,5.16,4.57,-0.41(T,T,T,T)",0.0000(T),0.042,0.048215,4.98,-0.654,0.468000,-0.245000,-0.444000,0.112000,0.008000,0.142000,0.874
missense_variant,PLXNB3,MISSENSE,NM_001163257.1:p.Met1558Thr/c.4673T>C,aTg/aCg,MODERATE,COSM3759417(2),0.831523,0.7736,rs5987155,0.54(T),"0.0,0.0,0.0(B,B,B)",-1.03(N),-1.0160(T),,chrX,153041544,153041544,T,C,hom,"missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1558Thr/c.4673T>C|1932|PLXNB3|protein_coding|CODING|NM_001163257.1|28|1),missense_variant(MODERATE|MISSENSE|aTg/aCg|p.Met1535Thr/c.4604T>C|1909|PLXNB3|protein_coding|CODING|NM_005393.2|27|1)","HUVEC:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3",,,,0.8468,0.8416,0.8016,0.82,0.88,0.78,,0.000000(N),1.000(P),"5.41,5.38,4.8(T,T,T)",0.0000(T),0.042,-1.836143,4.93,-5.5,-1.471000,-1.237000,-2.560000,0.004000,0.000000,0.000000,9.4446
synonymous_variant,PLXNB3,SILENT,NM_001163257.1:p.Arg1660Arg/c.4980G>A,agG/agA,LOW,,0.401589,0.1688,rs34966902,,,,-0.9577(T),,chrX,153042419,153042419,G,A,hom,"synonymous_variant(LOW|SILENT|agG/agA|p.Arg1660Arg/c.4980G>A|1932|PLXNB3|protein_coding|CODING|NM_001163257.1|30|1),synonymous_variant(LOW|SILENT|agG/agA|p.Arg1637Arg/c.4911G>A|1909|PLXNB3|protein_coding|CODING|NM_005393.2|29|1)","HeLa-S3:DNase1,HUVEC:H3K36me3,IMR90:H3K36me3,HeLa-S3:H3K27ac,NHEK:H3K36me3,HepG2:H3K36me3,K562:DNase1",,,,0.2549,0.4008,0.658,0.61,0.52,0.66,,,0.000(P),,0.0000(T),.,-0.332388,4.92,3.14,-0.311000,0.434000,0.190000,0.156000,0.624000,0.974000,4.3884
synonymous_variant,AVPR2,SILENT,NM_000054.4:p.Leu309Leu/c.927A>G,ctA/ctG,LOW,COSM4154898(2),0.688477,0.7186,rs5201,0.02(D),,,-1.0654(T),,chrX,153171993,153171993,A,G,hom,"synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu309Leu/c.927A>G|371|AVPR2|protein_coding|CODING|NM_000054.4|3|1),3_prime_UTR_variant(MODIFIER||103|c.*103A>G|309|AVPR2|protein_coding|CODING|NM_001146151.1|2|1),downstream_gene_variant(MODIFIER||837||986|ARHGAP4|protein_coding|CODING|NM_001164741.1||1),downstream_gene_variant(MODIFIER||837||946|ARHGAP4|protein_coding|CODING|NM_001666.4||1),non_coding_exon_variant(MODIFIER|||n.974A>G||AVPR2||CODING|NR_027419.1|4|1)","K562:PolII,GM12878:H3K36me3,CD4:H4K20me1,GM12878:PolII,IMR90:H3K27me3,HepG2:H3K27me3,GM06990:H3K36me3",,,,0.7354,0.645,0.3185,0.50,0.86,0.30,,,0.000(P),0.99(T),0.0000(T),.,0.131710,4.3,3.44,-1.480000,0.258000,0.989000,0.185000,1.000000,0.974000,5.1929
synonymous_variant,ARHGAP4,SILENT,NM_001164741.1:p.His612His/c.1836T>C,caT/caC,LOW,COSM4156722(2),0.704901,0.7173,rs2070097,,,,-1.0795(T),,chrX,153176254,153176254,A,G,hom,"synonymous_variant(LOW|SILENT|caT/caC|p.His612His/c.1836T>C|986|ARHGAP4|protein_coding|CODING|NM_001164741.1|16|1),synonymous_variant(LOW|SILENT|caT/caC|p.His572His/c.1716T>C|946|ARHGAP4|protein_coding|CODING|NM_001666.4|15|1)","H1ESC:H3K36me3,GM12878:H3K36me3,CD4:H4K20me1,IMR90:H3K27me3,GM06990:H3K36me3",,,,0.7646,0.6527,0.4021,0.56,0.85,0.39,,,0.004(P),,0.0000(T),.,-1.146679,4.61,-6.94,-2.187000,-2.323000,-1.160000,0.020000,0.000000,0.000000,7.0917
missense_variant,RENBP,MISSENSE,NM_002910.5:p.Ala280Asp/c.839C>A,gCc/gAc,MODERATE,COSM116666(1),0.021457,0.0105,rs78377269,0.55(T),0.005(B),1.235(L),-1.0084(T),,chrX,153207037,153207037,G,T,hom,missense_variant(MODERATE|MISSENSE|gCc/gAc|p.Ala280Asp/c.839C>A|427|RENBP|protein_coding|CODING|NM_002910.5|8|1),"K562:Max,H1ESC:DNase1,K562:DNase1",,,,0.0084,0.0038,0.0287,0.04,0.05,0.03,,0.177323(N),1.000(P),"1.72,1.72(T,T)",0.0198(T),0.414,0.498797,5.15,3.35,0.436000,0.397000,1.164000,0.040000,0.002000,0.007000,8.9147
synonymous_variant,HCFC1,SILENT,NM_005334.2:p.Ala1395Ala/c.4185G>A,gcG/gcA,LOW,,0.403179,0.7801,rs2071133,,,,,,chrX,153219665,153219665,C,T,hom,synonymous_variant(LOW|SILENT|gcG/gcA|p.Ala1395Ala/c.4185G>A|2035|HCFC1|protein_coding|CODING|NM_005334.2|17|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081293.3,,0.6212,0.4733,0.1893,0.15,0.11,0.18,,,,,,,,,,,,,,,,
missense_variant,HCFC1,MISSENSE,NM_005334.2:p.Ser1164Pro/c.3490T>C,Tcc/Ccc,MODERATE,COSM1569620(2),0.58596,0.7775,rs1051152,1(T),0.0(B),-0.805(N),-1.0255(T),,chrX,153220360,153220360,A,G,hom,missense_variant(MODERATE|MISSENSE|Tcc/Ccc|p.Ser1164Pro/c.3490T>C|2035|HCFC1|protein_coding|CODING|NM_005334.2|17|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081291.3,,0.624,0.5324,0.1958,0.34,0.64,0.18,,0.006441(N),1.000(P),"4.25,4.23,4.26(T,T,T)",0.0000(T),0.029,-1.063977,4.91,-0.339,-1.185000,-0.527000,1.020000,0.582000,0.005000,0.999000,6.7272
synonymous_variant,HCFC1,SILENT,NM_005334.2:p.Pro947Pro/c.2841A>G,ccA/ccG,LOW,,0.585166,0.7775,rs730106,,,,,,chrX,153221657,153221657,T,C,hom,synonymous_variant(LOW|SILENT|ccA/ccG|p.Pro947Pro/c.2841A>G|2035|HCFC1|protein_coding|CODING|NM_005334.2|16|1),"H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000081290.3,,0.6184,0.5324,0.1932,0.36,0.68,0.18,,,,,,,,,,,,,,,,
missense_variant,TMEM187,MISSENSE,NM_003492.2:p.Ser70Leu/c.209C>T,tCg/tTg,MODERATE,COSM4156734(1),0.390464,0.7277,rs2266890,0.17(T),0.0(B),-0.345(N),-0.9669(T),,chrX,153247722,153247722,C,T,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser70Leu/c.209C>T|261|TMEM187|protein_coding|CODING|NM_003492.2|2|1),upstream_gene_variant(MODIFIER||1095|||MIR3202-2||NON_CODING|NR_036175.1||1),downstream_gene_variant(MODIFIER||1094|||MIR3202-1||NON_CODING|NR_036174.1||1)","IMR90:H3K36me3,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.6058,0.4752,0.1867,0.15,0.11,0.18,,0.237814(U),1.000(P),2.15(T),0.0000(T),0.038,1.815302,4.13,0.241,-2.240000,-0.343000,1.795000,0.000000,0.015000,0.979000,2.0999
missense_variant,TMEM187,MISSENSE,NM_003492.2:p.Met78Val/c.232A>G,Atg/Gtg,MODERATE,COSM4156735(1),0.540132,0.7317,rs7350355,0.62(T),0.0(B),-0.69(N),-0.9226(T),,chrX,153247745,153247745,A,G,hom,"missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met78Val/c.232A>G|261|TMEM187|protein_coding|CODING|NM_003492.2|2|1),upstream_gene_variant(MODIFIER||1118|||MIR3202-2||NON_CODING|NR_036175.1||1),downstream_gene_variant(MODIFIER||1117|||MIR3202-1||NON_CODING|NR_036174.1||1)","IMR90:H3K36me3,NHEK:H3K36me3,CD4:PolII,GM06990:H3K36me3",,,,0.6156,0.5286,0.1919,0.32,0.56,0.18,,0.034052(N),1.000(P),2.04(T),0.0000(T),0.005,0.521765,3.6,2.71,-0.396000,0.012000,0.132000,0.000000,0.000000,0.000000,4.6881
synonymous_variant,TMEM187,SILENT,NM_003492.2:p.Cys147Cys/c.441C>T,tgC/tgT,LOW,COSM4156736(1),0.392053,0.7317,rs6571303,,,,,,chrX,153247954,153247954,C,T,hom,"synonymous_variant(LOW|SILENT|tgC/tgT|p.Cys147Cys/c.441C>T|261|TMEM187|protein_coding|CODING|NM_003492.2|2|1),upstream_gene_variant(MODIFIER||1327|||MIR3202-2||NON_CODING|NR_036175.1||1),downstream_gene_variant(MODIFIER||1326|||MIR3202-1||NON_CODING|NR_036174.1||1)","IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,GM06990:H3K36me3",,,,0.6058,0.4752,0.1867,0.15,0.11,0.18,,,,,,,,,,,,,,,,
missense_variant,IRAK1,MISSENSE,NM_001569.3:p.Ser532Leu/c.1595C>T,tCg/tTg,MODERATE,COSM4156738(2),0.516821,0.2107,rs1059703,0.38(T),"0.0,0.0(B,B)",0(N),-0.9499(T),,chrX,153278829,153278829,G,A,hom,"missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser453Leu/c.1358C>T|633|IRAK1|protein_coding|CODING|NM_001025243.1|11|1),missense_variant(MODERATE|MISSENSE|tCg/tTg|p.Ser532Leu/c.1595C>T|712|IRAK1|protein_coding|CODING|NM_001569.3|12|1),intron_variant(MODIFIER|||c.1540-35C>T|682|IRAK1|protein_coding|CODING|NM_001025242.1|11|1)","H1ESC:H3K36me3,K562:PolII,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HepG2:H3K27ac,IMR90:H3K36me3,NHEK:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,0.3565,0.5286,0.8433,0.78,0.65,0.85,,0.045764(N),1.000(P),"-0.73,-0.71(T,T)",0.0000(T),0.192,0.927074,4.69,-0.873,-0.905000,-0.378000,-0.171000,0.000000,0.000000,0.000000,1.7514
missense_variant,IRAK1,MISSENSE,NM_001569.3:p.Phe196Ser/c.587T>C,tTt/tCt,MODERATE,,0.628874,0.2199,rs1059702,0.44(T),"0.001,0.0,0.0(B,B,B)",-2.08(N),-0.9354(T),,chrX,153284192,153284192,A,G,hom,"missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe196Ser/c.587T>C|682|IRAK1|protein_coding|CODING|NM_001025242.1|5|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe196Ser/c.587T>C|633|IRAK1|protein_coding|CODING|NM_001025243.1|5|1),missense_variant(MODERATE|MISSENSE|tTt/tCt|p.Phe196Ser/c.587T>C|712|IRAK1|protein_coding|CODING|NM_001569.3|5|1),downstream_gene_variant(MODIFIER||1179|||MIR718||NON_CODING|NR_031757.1||1)","H1ESC:H3K36me3,K562:H3K4me3,HepG2:H3K4me2,NHEK:H3K4me3,K562:H3K27ac,GM12878:H3K4me3,GM12878:H3K27ac,HeLa-S3:H3K9ac,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,GM06990:H3K4me3,HUVEC:DNase1,IMR90:H3K36me3,K562:H3K9ac,HeLa-S3:H3K27ac,HepG2:H3K4me3,NHEK:H3K36me3,HepG2:H3K36me3,HepG2:H3K9ac,NHEK:H3K4me2,HeLa-S3:H3K36me3,K562:H3K79me2,HeLa-S3:H3K4me3,GM12878:H3K9ac,HSMM:H3K4me3,GM06990:H3K36me3,K562:H3K4me2,HMEC:H3K4me3",,,,0.3928,0.5744,0.8525,0.89,0.96,0.86,,0.159961(N),1.000(P),"1.44,-3.12,-3.12,1.44,1.44(T,D,D,T,T)",0.0000(T),0.04,0.756226,4.57,3.68,-0.252000,0.235000,0.487000,0.090000,0.002000,0.053000,6.4293
synonymous_variant,OPN1LW,SILENT,NM_020061.5:p.Leu100Leu/c.300A>G,ctA/ctG,LOW,,0.0121854,0.0065,rs17294500,,,,,,chrX,153416315,153416315,A,G,hom,synonymous_variant(LOW|SILENT|ctA/ctG|p.Leu100Leu/c.300A>G|364|OPN1LW|protein_coding|CODING|NM_020061.5|2|1),IMR90:H3K27me3,,,,0.007,0.0134,0.0235,0.02,0.01,0.02,,,,,,,,,,,,,,,,
missense_variant,OPN1LW,MISSENSE,NM_020061.5:p.Met236Val/c.706A>G,Atg/Gtg,MODERATE,,0.149669,0.017,rs78093925,0.35(T),0.002(B),-1.445(N),-0.9562(T),,chrX,153420176,153420176,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met236Val/c.706A>G|364|OPN1LW|protein_coding|CODING|NM_020061.5|4|1),IMR90:H3K27me3,,,,0.0404,0.0744,0.0809,0.19,0.37,0.09,,0.035968(N),1.000(P),"-0.47,-0.47(T,T)",0.0000(T),0.038,-1.991273,4.27,-2.95,-0.775000,-0.716000,-1.488000,0.134000,0.239000,0.000000,7.105
synonymous_variant,OPN1LW,SILENT,NM_020061.5:p.Gly296Gly/c.888T>C,ggT/ggC,LOW,,0.149934,0.0209,rs1065439,,,,,,chrX,153421912,153421912,T,C,hom,synonymous_variant(LOW|SILENT|ggT/ggC|p.Gly296Gly/c.888T>C|364|OPN1LW|protein_coding|CODING|NM_020061.5|5|1),"IMR90:H3K27me3,HepG2:H3K27me3",,,,0.0306,0.0725,0.0796,0.19,0.36,0.09,,,,,,,,,,,,,,,,
synonymous_variant,FLNA,SILENT,NM_001110556.1:p.Ala1950Ala/c.5850T>C,gcT/gcC,LOW,,0.25404,0.0877,rs2070825,,,,,,chrX,153581932,153581932,A,G,hom,"synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1950Ala/c.5850T>C|2647|FLNA|protein_coding|CODING|NM_001110556.1|36|1),synonymous_variant(LOW|SILENT|gcT/gcC|p.Ala1942Ala/c.5826T>C|2639|FLNA|protein_coding|CODING|NM_001456.3|35|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,GM12878:PolII,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,RCV000079703.3|RCV000125135.1,,0.2409,0.1775,0.0822,0.24,0.49,0.10,,,,,,,,,,,,,,,,
synonymous_variant,FLNA,SILENT,NM_001110556.1:p.His1292His/c.3876C>T,caC/caT,LOW,,,,rs199917719,,,,,,chrX,153588203,153588203,G,A,hom,"synonymous_variant(LOW|SILENT|caC/caT|p.His1292His/c.3876C>T|2647|FLNA|protein_coding|CODING|NM_001110556.1|23|1),synonymous_variant(LOW|SILENT|caC/caT|p.His1292His/c.3876C>T|2639|FLNA|protein_coding|CODING|NM_001456.3|23|1)","H1ESC:H3K36me3,K562:PolII,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,GM06990:H3K36me3",,,,,,,0.00,0.00,0.00,,,,,,,,,,,,,,,,
synonymous_variant,GDI1,SILENT,NM_001493.2:p.Asn73Asn/c.219T>C,aaT/aaC,LOW,,0.290861,0.0694,rs4834,,,,,,chrX,153667176,153667176,T,C,hom,synonymous_variant(LOW|SILENT|aaT/aaC|p.Asn73Asn/c.219T>C|447|GDI1|protein_coding|CODING|NM_001493.2|3|1),"H1ESC:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,CD4:H4K20me1,IMR90:H3K36me3,CD4:H3K4me1,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,RCV000117138.2,,0.2214,0.2233,0.111,0.31,0.63,0.13,,,,,,,,,,,,,,,,
synonymous_variant,DKC1,SILENT,NM_001363.4:p.Thr123Thr/c.369G>T,acG/acT,LOW,,0.992583,1,rs2728532,,,,-1.0599(T),,chrX,153994596,153994596,G,T,hom,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr123Thr/c.369G>T|509|DKC1|protein_coding|CODING|NM_001142463.2|5|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr123Thr/c.369G>T|420|DKC1|protein_coding|CODING|NM_001288747.1|5|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr123Thr/c.369G>T|514|DKC1|protein_coding|CODING|NM_001363.4|5|1),non_coding_exon_variant(MODIFIER|||n.1070G>T||DKC1||CODING|NR_110021.1|4|1),non_coding_exon_variant(MODIFIER|||n.593G>T||DKC1||CODING|NR_110023.1|5|1),non_coding_exon_variant(MODIFIER|||n.593G>T||DKC1||CODING|NR_110022.1|5|1)","H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,GM12878:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,HeLa-S3:H3K36me3,K562:H3K79me2,GM06990:H3K36me3",,,,1,0.9981,1,0.99,0.98,1.00,,,0.000(P),,0.0000(T),.,1.008163,5.95,-5.61,-0.429000,-2.151000,-3.515000,0.955000,0.147000,0.000000,3.9682
synonymous_variant,MPP1,SILENT,NM_002436.3:p.Thr85Thr/c.255G>T,acG/acT,LOW,,0.544106,0.7395,rs1126762,,,,,,chrX,154020114,154020114,C,A,hom,"synonymous_variant(LOW|SILENT|acG/acT|p.Thr68Thr/c.204G>T|449|MPP1|protein_coding|CODING|NM_001166460.1|3|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr85Thr/c.255G>T|446|MPP1|protein_coding|CODING|NM_001166461.1|3|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr55Thr/c.165G>T|436|MPP1|protein_coding|CODING|NM_001166462.1|4|1),synonymous_variant(LOW|SILENT|acG/acT|p.Thr85Thr/c.255G>T|466|MPP1|protein_coding|CODING|NM_002436.3|3|1)","K562:H3K36me3,K562:H3K79me2",,,,0.4735,0.6508,0.7833,0.55,0.26,0.72,,,,,,,,,,,,,,,,
missense_variant,VBP1,MISSENSE,NM_003372.5:p.Met123Val/c.367A>G,Atg/Gtg,MODERATE,,1,1,rs386599527,1(T),0.0(B),-3.37(N),-0.9600(T),,chrX,154456747,154456747,A,G,hom,missense_variant(MODERATE|MISSENSE|Atg/Gtg|p.Met123Val/c.367A>G|197|VBP1|protein_coding|CODING|NM_003372.5|4|1),"H1ESC:H3K36me3,NH-A:H3K36me3,HUVEC:H3K36me3,HMEC:H3K36me3,K562:H3K36me3,HSMM:H3K36me3,IMR90:H3K36me3,NHEK:H3K36me3,HepG2:H3K36me3,GM06990:H3K36me3",,,,1,1,1,,,,,0.000000(N),1.000(P),"1.64,1.64(T,T)",0.0000(T),0.474,0.007850,5.05,5.05,-0.236000,1.064000,7.595000,0.966000,1.000000,1.000000,10.9258
missense_variant,NLGN4Y,MISSENSE,NM_014893.4:p.Thr794Asn/c.2381C>A,aCt/aAt,MODERATE,,,,,,,,,,chrY,16953072,16953072,C,A,hom,"missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr626Asn/c.1877C>A|648|NLGN4Y|protein_coding|CODING|NM_001206850.1|6|1),missense_variant(MODERATE|MISSENSE|aCt/aAt|p.Thr794Asn/c.2381C>A|816|NLGN4Y|protein_coding|CODING|NM_014893.4|6|1),non_coding_exon_variant(MODIFIER|||n.2855C>A||NLGN4Y||CODING|NR_028319.1|6|1),non_coding_exon_variant(MODIFIER|||n.2620C>A||NLGN4Y||CODING|NR_046355.1|7|1)","H1ESC:H3K36me3,HepG2:H3K36me3",,,,,,,,,,,,,,,,,,,,,,,,,
missense_variant,CD24,MISSENSE,NM_001291738.1:p.Thr44Ser/c.130A>T,Act/Tct,MODERATE,,,,rs10465460,,,,,,chrY,21154466,21154466,T,A,het,"missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr44Ser/c.130A>T|80|CD24|protein_coding|CODING|NM_001291738.1|2|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr44Ser/c.130A>T|80|CD24|protein_coding|CODING|NM_013230.3|1|1),missense_variant(MODERATE|MISSENSE|Act/Tct|p.Thr44Ser/c.130A>T|80|CD24|protein_coding|CODING|NM_001291737.1|1|1),synonymous_variant(LOW|SILENT|acA/acT|p.Thr21Thr/c.63A>T|57|CD24|protein_coding|CODING|NM_001291739.1|1|1|WARNING_TRANSCRIPT_INCOMPLETE),intron_variant(MODIFIER|||n.578+76144A>T||TTTY14||NON_CODING|NR_125734.1|2|1),intron_variant(MODIFIER|||n.503+84465A>T||TTTY14||NON_CODING|NR_125735.1|1|1),intron_variant(MODIFIER|||n.138+76144A>T||TTTY14||NON_CODING|NR_125736.1|2|1),intron_variant(MODIFIER|||n.139-59739A>T||TTTY14||NON_CODING|NR_125737.1|2|1),intron_variant(MODIFIER|||n.504-59739A>T||TTTY14||NON_CODING|NR_001543.3|1|1),intron_variant(MODIFIER|||n.579-59105A>T||TTTY14||NON_CODING|NR_125733.1|2|1),non_coding_exon_variant(MODIFIER|||n.320A>T||CD24||CODING|NR_117089.1|2|1),non_coding_exon_variant(MODIFIER|||n.161A>T||CD24||CODING|NR_117090.1|2|1)","H1ESC:PolII,H1ESC:H3K36me3,H1ESC:H3K9ac,HUVEC:H3K27me3,H1ESC:TAF1,H1ESC:H3K4me2,HMEC:H3K36me3,H1ESC:H3K27ac,H1ESC:DNase1,H1ESC:H3K4me3,HepG2:H3K4me3,HSMM:H3K27me3,HepG2:DNase1,HMEC:DNase1,H1ESC:TAF7,HMEC:H3K4me3",,,,,,,,,,,,,,,,,,,,,,,,,